|
NM_000552.5(VWF):c.4641T>C (p.Thr1547=)
|
rs216310
|
0.71518
|
|
NM_000352.6(ABCC8):c.2390+123C>T
|
rs4148631
|
0.70926
|
|
NM_000352.6(ABCC8):c.2390+93C>T
|
rs4148630
|
0.70902
|
|
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_000352.6(ABCC8):c.1686C>T (p.His562=)
|
rs1799857
|
0.44260
|
|
NM_000552.5(VWF):c.2365A>G (p.Thr789Ala)
|
rs1063856
|
0.40814
|
|
NM_000140.5(FECH):c.68-23C>T
|
rs2269219
|
0.27629
|
|
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)
|
rs1042602
|
0.24593
|
|
NM_000352.6(ABCC8):c.4119+93G>T
|
rs4148644
|
0.21307
|
|
NM_138413.4(HOGA1):c.212-21A>G
|
rs11817730
|
0.19877
|
|
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.18094
|
|
NM_138413.4(HOGA1):c.700+67G>A
|
rs2297643
|
0.16278
|
|
NM_014694.4(ADAMTSL2):c.1641C>T (p.His547=)
|
rs7868941
|
0.16167
|
|
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met)
|
rs4426527
|
0.15412
|
|
NM_000545.8(HNF1A):c.1545G>A (p.Thr515=)
|
rs55834942
|
0.13864
|
|
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_000540.3(RYR1):c.10687-7C>T
|
rs2960354
|
0.12378
|
|
NM_032790.4(ORAI1):c.121G>A (p.Gly41Arg)
|
rs782650611
|
0.11673
|
|
NM_001267550.2(TTN):c.36655T>G (p.Leu12219Val)
|
rs12994774
|
0.09975
|
|
NM_000036.3(AMPD1):c.143C>T (p.Pro48Leu)
|
rs61752479
|
0.08857
|
|
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter)
|
rs17602729
|
0.08701
|
|
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
|
NM_000110.4(DPYD):c.496A>G (p.Met166Val)
|
rs2297595
|
0.08071
|
|
NM_000041.2(APOE):c.526C>T (p.Arg176Cys)
|
rs7412
|
0.07986
|
|
NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr)
|
rs6092
|
0.07905
|
|
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)
|
rs2070074
|
0.07150
|
|
NM_001164508.2(NEB):c.13534G>A (p.Ala4512Thr)
|
rs886038435
|
0.07143
|
|
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4])
|
rs398124622
|
0.06994
|
|
NM_000257.4(MYH7):c.1062C>T (p.Gly354=)
|
rs735712
|
0.06133
|
|
NM_001128164.2(ATXN1):c.627T>G (p.His209Gln)
|
rs11969612
|
0.05921
|
|
NM_018100.4(EFHC1):c.545G>A (p.Arg182His)
|
rs3804505
|
0.05453
|
|
NM_000135.4(FANCA):c.542C>T (p.Ala181Val)
|
rs17232246
|
0.04972
|
|
NM_014049.5(ACAD9):c.-44_-41dup
|
rs387906242
|
0.04863
|
|
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp)
|
rs1805008
|
0.04851
|
|
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys)
|
rs1805007
|
0.04832
|
|
NM_012203.2(GRHPR):c.734+9G>A
|
rs56401536
|
0.04769
|
|
NM_001366110.1(PAX4):c.474C>T (p.Gly158=)
|
rs77039439
|
0.04703
|
|
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg)
|
rs1799950
|
0.04695
|
|
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=)
|
rs113579185
|
0.04642
|
|
NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser)
|
rs2227869
|
0.04366
|
|
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)
|
rs1801466
|
0.04126
|
|
NM_021922.3(FANCE):c.611C>T (p.Ser204Leu)
|
rs7761870
|
0.03770
|
|
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser)
|
rs34006675
|
0.03359
|
|
NM_015627.3(LDLRAP1):c.712C>T (p.Arg238Trp)
|
rs41291058
|
0.03285
|
|
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys)
|
rs35829419
|
0.03262
|
|
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln)
|
rs41265017
|
0.03176
|
|
NM_013339.4(ALG6):c.391T>C (p.Tyr131His)
|
rs35383149
|
0.02935
|
|
NM_000531.6(OTC):c.809A>G (p.Gln270Arg)
|
rs1800328
|
0.02868
|
|
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val)
|
rs35947132
|
0.02791
|
|
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val)
|
rs35077384
|
0.02717
|
|
NM_003465.3(CHIT1):c.1060G>A (p.Gly354Arg)
|
rs9943208
|
0.02564
|
|
NM_001232.4(CASQ2):c.731A>G (p.His244Arg)
|
rs28730716
|
0.02511
|
|
NM_213599.3(ANO5):c.*554C>T
|
rs117180492
|
0.02476
|
|
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_000251.3(MSH2):c.380A>G (p.Asn127Ser)
|
rs17217772
|
0.02317
|
|
NM_000384.3(APOB):c.8148C>T (p.Ile2716=)
|
rs6413458
|
0.02288
|
|
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)
|
rs7626962
|
0.02208
|
|
NM_025077.4(TOE1):c.52+77G>A
|
rs3219466
|
0.02177
|
|
NM_000384.3(APOB):c.10701G>A (p.Thr3567=)
|
rs12713558
|
0.02176
|
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
|
NM_025137.4(SPG11):c.7023C>T (p.Tyr2341=)
|
rs80338869
|
0.02054
|
|
NM_018136.5(ASPM):c.-110C>T
|
rs74981632
|
0.02032
|
|
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg)
|
rs11934801
|
0.01974
|
|
NM_213599.3(ANO5):c.*3168C>T
|
rs35892535
|
0.01843
|
|
NM_144508.5(KNL1):c.2369C>G (p.Thr790Ser)
|
rs33931006
|
0.01841
|
|
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met)
|
rs4987117
|
0.01834
|
|
NM_001130987.2(DYSF):c.*53G>A
|
rs114777968
|
0.01775
|
|
NM_213599.3(ANO5):c.2259A>G (p.Ser753=)
|
rs61746201
|
0.01772
|
|
NM_000500.9(CYP21A2):c.*13G>A
|
rs6447
|
0.01770
|
|
NM_003126.4(SPTA1):c.4453C>T (p.Leu1485Phe)
|
rs34973695
|
0.01729
|
|
NM_017755.5(NSUN2):c.-193G>C
|
rs8192123
|
0.01707
|
|
NM_017755.5(NSUN2):c.-340C>T
|
rs147269098
|
0.01704
|
|
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)
|
rs1800095
|
0.01670
|
|
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=)
|
rs62145939
|
0.01642
|
|
NM_000071.3(CBS):c.*540G>A
|
rs111386779
|
0.01634
|
|
NM_001164508.2(NEB):c.571G>C (p.Glu191Gln)
|
rs35686968
|
0.01624
|
|
NM_213599.3(ANO5):c.*2095G>A
|
rs142192440
|
0.01610
|
|
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)
|
rs11466023
|
0.01590
|
|
NM_020975.6(RET):c.2944C>T (p.Arg982Cys)
|
rs17158558
|
0.01567
|
|
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=)
|
rs5216
|
0.01521
|
|
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu)
|
rs1800362
|
0.01494
|
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
|
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg)
|
rs74874677
|
0.01472
|
|
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=)
|
rs61749202
|
0.01463
|
|
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala)
|
rs200533370
|
0.01462
|
|
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)
|
rs11466024
|
0.01456
|
|
NM_000520.5(HEXA):c.-167G>A
|
rs77707876
|
0.01456
|
|
NM_000230.3(LEP):c.*34G>A
|
rs28954114
|
0.01449
|
|
NM_014915.3(ANKRD26):c.3384G>A (p.Lys1128=)
|
rs41299210
|
0.01449
|
|
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg)
|
rs61742937
|
0.01445
|
|
NM_006059.4(LAMC3):c.-2C>T
|
rs137883250
|
0.01424
|
|
NM_017755.5(NSUN2):c.-189C>A
|
rs8192122
|
0.01396
|
|
NM_005612.5(REST):c.2443C>T (p.Pro815Ser)
|
rs114282228
|
0.01389
|
|
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln)
|
rs35824453
|
0.01388
|
|
NM_000321.3(RB1):c.2212-16T>A
|
rs201258424
|
0.01386
|
|
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr)
|
rs35719940
|
0.01370
|
|
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile)
|
rs1799967
|
0.01348
|
|
NM_213599.3(ANO5):c.*3155T>C
|
rs78929863
|
0.01340
|
|
NM_000207.3(INS):c.36G>A (p.Ala12=)
|
rs3842744
|
0.01335
|
|
NM_003126.4(SPTA1):c.4490G>A (p.Gly1497Glu)
|
rs41273523
|
0.01332
|
|
NM_000552.5(VWF):c.6532G>T (p.Ala2178Ser)
|
rs34230288
|
0.01330
|
|
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln)
|
rs607969
|
0.01309
|
|
NM_001142864.4(PIEZO1):c.2992-18G>A
|
rs190814667
|
0.01297
|
|
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe)
|
rs4987047
|
0.01281
|
|
NM_016203.3(PRKAG2):c.-520C>T
|
rs73160072
|
0.01266
|
|
NM_213599.3(ANO5):c.*1328C>T
|
rs78089375
|
0.01250
|
|
NM_213599.3(ANO5):c.-261A>C
|
rs114897158
|
0.01250
|
|
NM_213599.3(ANO5):c.*1661C>T
|
rs12284506
|
0.01249
|
|
NM_000070.3(CAPN3):c.-104G>C
|
rs149698681
|
0.01241
|
|
NM_000552.5(VWF):c.2771G>A (p.Arg924Gln)
|
rs33978901
|
0.01237
|
|
NM_018082.5(POLR3B):c.-173C>T
|
rs73186443
|
0.01232
|
|
NM_000112.4(SLC26A2):c.*4799G>A
|
rs72832119
|
0.01211
|
|
NM_213599.3(ANO5):c.*930C>T
|
rs78428314
|
0.01204
|
|
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln)
|
rs56367069
|
0.01203
|
|
NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr)
|
rs35727744
|
0.01194
|
|
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu)
|
rs28364364
|
0.01193
|
|
NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=)
|
rs73419228
|
0.01181
|
|
NM_002693.3(POLG):c.3644-99C>T
|
rs3176241
|
0.01180
|
|
NM_000250.2(MPO):c.995C>T (p.Ala332Val)
|
rs28730837
|
0.01176
|
|
NM_001498.4(GCLC):c.1384C>T (p.Pro462Ser)
|
rs17883718
|
0.01172
|
|
NM_000249.4(MLH1):c.1039-8T>A
|
rs193922367
|
0.01153
|
|
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys)
|
rs45562031
|
0.01150
|
|
NM_000359.3(TGM1):c.1552G>A (p.Val518Met)
|
rs35312232
|
0.01146
|
|
NM_002386.4(MC1R):c.880G>C (p.Asp294His)
|
rs1805009
|
0.01121
|
|
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn)
|
rs4986852
|
0.01109
|
|
NM_152383.5(DIS3L2):c.265-15C>A
|
rs114804860
|
0.01092
|
|
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys)
|
rs28936670
|
0.01082
|
|
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr)
|
rs112239768
|
0.01081
|
|
NM_001271696.3(ABCB7):c.246+1G>A
|
rs61323727
|
0.01077
|
|
NM_130797.4(DPP6):c.227A>T (p.Asp76Val)
|
rs572667303
|
0.01073
|
|
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)
|
rs2230288
|
0.01061
|
|
NM_000232.5(SGCB):c.*1105A>G
|
rs77404139
|
0.01061
|
|
NM_000059.4(BRCA2):c.8487+19A>G
|
rs11571743
|
0.01055
|
|
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)
|
rs80358251
|
0.01055
|
|
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly)
|
rs2227945
|
0.01054
|
|
NM_000410.4(HFE):c.193A>T (p.Ser65Cys)
|
rs1800730
|
0.01042
|
|
NM_001305581.2(LRMDA):c.132-253012del
|
rs146123023
|
0.01042
|
|
NM_012203.2(GRHPR):c.963G>A (p.Pro321=)
|
rs76299266
|
0.01042
|
|
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)
|
rs34885143
|
0.01036
|
|
NM_001379610.1(SPINK1):c.200G>A (p.Arg67His)
|
rs35523678
|
0.01028
|
|
NM_000293.3(PHKB):c.555G>T (p.Met185Ile)
|
rs56257827
|
0.01025
|
|
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)
|
rs11466045
|
0.01021
|
|
NM_006363.6(SEC23B):c.770C>T (p.Thr257Ile)
|
rs146917730
|
0.01006
|
|
NM_000512.5(GALNS):c.*3C>G
|
rs77826920
|
0.01005
|
|
NM_001160372.4(TRAPPC9):c.1869C>T (p.Ser623=)
|
rs117685875
|
0.01001
|
|
NM_000136.3(FANCC):c.-155A>C
|
rs549658720
|
0.00998
|
|
NM_015192.4(PLCB1):c.2191C>G (p.Pro731Ala)
|
rs61755434
|
0.00997
|
|
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)
|
rs74374973
|
0.00994
|
|
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln)
|
rs199644078
|
0.00993
|
|
NM_213599.3(ANO5):c.1029C>T (p.Asp343=)
|
rs78899595
|
0.00992
|
|
NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys)
|
rs41282930
|
0.00987
|
|
NM_014363.6(SACS):c.10305T>C (p.Ser3435=)
|
rs35670472
|
0.00986
|
|
NM_000112.4(SLC26A2):c.*4930C>T
|
rs79521091
|
0.00981
|
|
NM_014363.6(SACS):c.12762C>T (p.Ser4254=)
|
rs11554397
|
0.00978
|
|
NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln)
|
rs79251326
|
0.00978
|
|
NM_000232.5(SGCB):c.*724C>T
|
rs79282232
|
0.00971
|
|
NM_000540.3(RYR1):c.7737G>A (p.Val2579=)
|
rs114975624
|
0.00971
|
|
NM_000527.5(LDLR):c.90C>T (p.Asn30=)
|
rs72658855
|
0.00965
|
|
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu)
|
rs56082113
|
0.00964
|
|
NM_001384474.1(LOXHD1):c.1742T>C (p.Val581Ala)
|
rs35007621
|
0.00961
|
|
NM_005666.4(CFHR2):c.595G>T (p.Glu199Ter)
|
rs41257904
|
0.00960
|
|
NM_016373.4(WWOX):c.885G>A (p.Arg295=)
|
rs79771882
|
0.00946
|
|
NM_033100.4(CDHR1):c.240C>T (p.Val80=)
|
rs11593005
|
0.00943
|
|
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr)
|
rs11807956
|
0.00940
|
|
NM_006446.5(SLCO1B1):c.481+1G>T
|
rs77271279
|
0.00934
|
|
NM_004360.5(CDH1):c.-71C>G
|
rs34033771
|
0.00927
|
|
NM_000249.4(MLH1):c.1732-19T>A
|
rs77120160
|
0.00923
|
|
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
|
rs33927012
|
0.00921
|
|
NM_000249.4(MLH1):c.1959G>T (p.Leu653=)
|
rs1800146
|
0.00913
|
|
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr)
|
rs58037052
|
0.00910
|
|
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys)
|
rs138611001
|
0.00910
|
|
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly)
|
rs143793528
|
0.00910
|
|
NM_001278689.2(EOGT):c.562A>T (p.Lys188Ter)
|
rs116711473
|
0.00908
|
|
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val)
|
rs78652302
|
0.00908
|
|
NM_000492.4(CFTR):c.2898G>A (p.Thr966=)
|
rs1800109
|
0.00907
|
|
NM_000374.5(UROD):c.*3G>A
|
rs74349352
|
0.00902
|
|
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala)
|
rs150047904
|
0.00893
|
|
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr)
|
rs61995747
|
0.00892
|
|
UGT1A1*6
|
rs4148323
|
0.00891
|
|
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys)
|
rs41273726
|
0.00885
|
|
NM_004268.5(MED17):c.1071T>A (p.Phe357Leu)
|
rs35313315
|
0.00877
|
|
NM_001374504.1(TMPRSS6):c.2356G>A (p.Val786Ile)
|
rs139105452
|
0.00876
|
|
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=)
|
rs193922854
|
0.00873
|
|
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)
|
rs11571707
|
0.00868
|
|
NM_001142864.4(PIEZO1):c.5828G>A (p.Arg1943Gln)
|
rs115799619
|
0.00868
|
|
NM_004278.4(PIGL):c.*254T>C
|
rs144070256
|
0.00867
|
|
NM_004700.4(KCNQ4):c.-14G>T
|
rs886042324
|
0.00867
|
|
NM_000243.3(MEFV):c.2118G>A (p.Pro706=)
|
rs2234939
|
0.00864
|
|
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln)
|
rs17885240
|
0.00863
|
|
NM_003126.4(SPTA1):c.6437A>G (p.Gln2146Arg)
|
rs138055271
|
0.00862
|
|
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala)
|
rs34799090
|
0.00854
|
|
NM_000500.9(CYP21A2):c.*12C>T
|
rs150697472
|
0.00853
|
|
NM_001042432.2(CLN3):c.*99C>T
|
rs113845299
|
0.00853
|
|
NM_000037.4(ANK1):c.5544+91C>T
|
rs72638959
|
0.00849
|
|
NM_000546.6(TP53):c.*1175A>C
|
rs78378222
|
0.00849
|
|
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val)
|
rs114137750
|
0.00844
|
|
NM_000552.5(VWF):c.2900G>A (p.Gly967Asp)
|
rs141087261
|
0.00842
|
|
NM_005142.3(CBLIF):c.290T>C (p.Met97Thr)
|
rs150884181
|
0.00842
|
|
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn)
|
rs1805128
|
0.00841
|
|
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met)
|
rs121908147
|
0.00835
|
|
NM_001160372.4(TRAPPC9):c.1458C>T (p.Phe486=)
|
rs34179337
|
0.00827
|
|
NM_018136.5(ASPM):c.*158T>C
|
rs41265225
|
0.00824
|
|
NM_004998.4(MYO1E):c.1593C>G (p.Ile531Met)
|
rs140447165
|
0.00815
|
|
NM_001457.4(FLNB):c.3724+13_3724+15del
|
rs773897420
|
0.00809
|
|
NM_144596.4(TTC8):c.625-5C>T
|
rs137853922
|
0.00807
|
|
NM_004628.5(XPC):c.1001C>A (p.Pro334His)
|
rs74737358
|
0.00806
|
|
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp)
|
rs35799469
|
0.00804
|
|
NM_019844.4(SLCO1B3):c.1679T>C (p.Val560Ala)
|
rs12299012
|
0.00802
|
|
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=)
|
rs36060526
|
0.00793
|
|
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn)
|
rs45574331
|
0.00792
|
|
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=)
|
rs7573406
|
0.00792
|
|
NM_002439.5(MSH3):c.1567G>A (p.Glu523Lys)
|
rs34058399
|
0.00789
|
|
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=)
|
rs78926093
|
0.00784
|
|
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile)
|
rs63750055
|
0.00784
|
|
NM_000350.3(ABCA4):c.3831G>A (p.Thr1277=)
|
rs75092434
|
0.00783
|
|
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=)
|
rs150761878
|
0.00781
|
|
NM_000037.4(ANK1):c.*1708G>C
|
rs182454354
|
0.00775
|
|
NM_001386298.1(CIC):c.7510T>C (p.Ser2504Pro)
|
rs745695673
|
0.00775
|
|
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu)
|
rs52820871
|
0.00774
|
|
NM_001040108.2(MLH3):c.1870G>C (p.Glu624Gln)
|
rs28756986
|
0.00772
|
|
NM_006363.6(SEC23B):c.1743+168A>G
|
rs111951711
|
0.00771
|
|
NM_002113.3(CFHR1):c.19del (p.Ser6_Val7insTer)
|
rs769938205
|
0.00770
|
|
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=)
|
rs11571642
|
0.00768
|
|
NM_016239.4(MYO15A):c.2680C>T (p.Pro894Ser)
|
rs76707172
|
0.00765
|
|
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser)
|
rs28933375
|
0.00756
|
|
NM_005138.3(SCO2):c.763C>A (p.Arg255=)
|
rs112793292
|
0.00755
|
|
NM_025216.3(WNT10A):c.493G>A (p.Gly165Arg)
|
rs77583146
|
0.00755
|
|
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu)
|
rs187587197
|
0.00751
|
|
NM_022356.4(P3H1):c.611C>A (p.Pro204His)
|
rs77208721
|
0.00751
|
|
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val)
|
rs143907597
|
0.00750
|
|
NM_000231.3(SGCG):c.-6T>C
|
rs141771521
|
0.00749
|
|
NM_001142864.4(PIEZO1):c.7529C>T (p.Pro2510Leu)
|
rs61745086
|
0.00748
|
|
NM_198999.3(SLC26A5):c.-53-2A>G
|
rs116900495
|
0.00748
|
|
NM_001083961.2(WDR62):c.*5G>A
|
rs61740165
|
0.00745
|
|
NM_001130987.2(DYSF):c.1380+6G>C
|
rs75796187
|
0.00745
|
|
NM_080759.6(DACH1):c.1722+6C>T
|
rs192675802
|
0.00741
|
|
NM_016292.3(TRAP1):c.1406G>A (p.Arg469His)
|
rs144787542
|
0.00740
|
|
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr)
|
rs12324002
|
0.00737
|
|
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys)
|
rs3738888
|
0.00736
|
|
NM_020247.5(COQ8A):c.*349G>A
|
rs113041399
|
0.00729
|
|
NM_000497.4(CYP11B1):c.243C>T (p.Tyr81=)
|
rs9657022
|
0.00726
|
|
NM_213599.3(ANO5):c.*3350T>G
|
rs144806967
|
0.00723
|
|
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val)
|
rs547352394
|
0.00722
|
|
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn)
|
rs115014558
|
0.00719
|
|
NM_000298.6(PKLR):c.1269+43T>C
|
rs8177982
|
0.00718
|
|
NM_001384474.1(LOXHD1):c.1028G>A (p.Arg343His)
|
rs183531840
|
0.00717
|
|
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile)
|
rs61753381
|
0.00715
|
|
NM_213599.3(ANO5):c.*2357A>T
|
rs151218419
|
0.00715
|
|
NM_000051.4(ATM):c.146C>G (p.Ser49Cys)
|
rs1800054
|
0.00712
|
|
NM_001130987.2(DYSF):c.*107T>A
|
rs11903223
|
0.00707
|
|
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=)
|
rs28897679
|
0.00707
|
|
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)
|
rs34677591
|
0.00706
|
|
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro)
|
rs61326562
|
0.00706
|
|
NM_170754.4(TNS2):c.3352A>G (p.Thr1118Ala)
|
rs117152710
|
0.00706
|
|
NM_003001.5(SDHC):c.*84G>C
|
rs201210474
|
0.00703
|
|
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val)
|
rs113562492
|
0.00702
|
|
NM_000041.4(APOE):c.487C>T (p.Arg163Cys)
|
rs769455
|
0.00701
|
|
NM_005609.4(PYGM):c.1092+6dup
|
rs368602234
|
0.00700
|
|
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg)
|
rs1801316
|
0.00694
|
|
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg)
|
rs76389165
|
0.00694
|
|
NM_000059.4(BRCA2):c.517-19C>T
|
rs11571623
|
0.00693
|
|
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln)
|
rs62619919
|
0.00690
|
|
NM_014874.4(MFN2):c.957C>T (p.Gly319=)
|
rs41278632
|
0.00690
|
|
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg)
|
rs75295839
|
0.00687
|
|
NM_001206927.2(DNAH8):c.11771C>T (p.Thr3924Met)
|
rs61757218
|
0.00685
|
|
NM_003002.4(SDHD):c.149A>G (p.His50Arg)
|
rs11214077
|
0.00679
|
|
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met)
|
rs115556836
|
0.00678
|
|
NM_006204.4(PDE6C):c.1755G>T (p.Lys585Asn)
|
rs45522236
|
0.00677
|
|
NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln)
|
rs41281338
|
0.00677
|
|
NM_002386.4(MC1R):c.464T>C (p.Ile155Thr)
|
rs1110400
|
0.00675
|
|
NM_181078.3(IL21R):c.824G>A (p.Arg275Gln)
|
rs52822694
|
0.00673
|
|
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys)
|
rs535143891
|
0.00670
|
|
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=)
|
rs7811324
|
0.00669
|
|
NM_015634.4(KIFBP):c.68A>G (p.Glu23Gly)
|
rs148768851
|
0.00669
|
|
NM_001384474.1(LOXHD1):c.611-15T>C
|
rs146912450
|
0.00662
|
|
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=)
|
rs1800135
|
0.00660
|
|
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg)
|
rs12735723
|
0.00660
|
|
NM_020247.5(COQ8A):c.*727C>T
|
rs16846762
|
0.00659
|
|
NM_000019.4(ACAT1):c.941-14C>T
|
rs12801620
|
0.00658
|
|
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe)
|
rs140029076
|
0.00658
|
|
NM_018451.5(CENPJ):c.*594_*595dup
|
rs570468323
|
0.00658
|
|
NM_000552.5(VWF):c.3686T>G (p.Val1229Gly)
|
rs61749367
|
0.00656
|
|
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn)
|
rs4987048
|
0.00655
|
|
NM_001029883.3(PCARE):c.3059A>G (p.Gln1020Arg)
|
rs200367963
|
0.00653
|
|
NM_001029883.3(PCARE):c.3058C>A (p.Gln1020Lys)
|
rs201355503
|
0.00651
|
|
NM_022124.6(CDH23):c.8980-14C>A
|
rs45522532
|
0.00642
|
|
NM_001160372.4(TRAPPC9):c.2797G>A (p.Gly933Ser)
|
rs114949291
|
0.00641
|
|
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser)
|
rs72677242
|
0.00641
|
|
NM_206933.4(USH2A):c.12066+4409C>G
|
rs115494070
|
0.00638
|
|
NM_022095.4(ZNF335):c.1963C>T (p.Pro655Ser)
|
rs117132825
|
0.00636
|
|
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr)
|
rs146578303
|
0.00633
|
|
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly)
|
rs116809571
|
0.00632
|
|
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe)
|
rs184339274
|
0.00631
|
|
NM_001206744.2(TPO):c.2305C>T (p.Arg769Trp)
|
rs114406277
|
0.00629
|
|
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met)
|
rs75548401
|
0.00627
|
|
NM_006891.4(CRYGD):c.168C>G (p.Tyr56Ter)
|
rs202233735
|
0.00627
|
|
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)
|
rs45575636
|
0.00625
|
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
|
NM_001130987.2(DYSF):c.*267C>G
|
rs181677134
|
0.00625
|
|
NM_001366057.1(OTUD4):c.3003T>A (p.Ala1001=)
|
rs147253069
|
0.00625
|
|
NM_000110.4(DPYD):c.557A>G (p.Tyr186Cys)
|
rs115232898
|
0.00622
|
|
NM_000541.5(SAG):c.1091C>T (p.Pro364Leu)
|
rs112613526
|
0.00622
|
|
NM_001114134.2(EPB42):c.1767C>A (p.His589Gln)
|
rs114354377
|
0.00619
|
|
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=)
|
rs56174006
|
0.00618
|
|
NM_000275.3(OCA2):c.574-19A>G
|
rs145242923
|
0.00618
|
|
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu)
|
rs114819130
|
0.00617
|
|
NM_017841.4(SDHAF2):c.*12C>T
|
rs113652589
|
0.00617
|
|
NM_000081.4(LYST):c.10941-7C>A
|
rs72761794
|
0.00614
|
|
NM_152879.3(DGKD):c.2925G>A (p.Glu975=)
|
rs147134923
|
0.00614
|
|
NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys)
|
rs12720445
|
0.00612
|
|
NM_004525.3(LRP2):c.923-6G>A
|
rs144147038
|
0.00611
|
|
NM_000368.5(TSC1):c.2626-3C>T
|
rs1060503192
|
0.00608
|
|
NM_001267550.2(TTN):c.83063G>A (p.Arg27688His)
|
rs185002960
|
0.00608
|
|
NM_213599.3(ANO5):c.*2869A>G
|
rs115249135
|
0.00608
|
|
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe)
|
rs61749895
|
0.00606
|
|
NM_001372073.1(PDGFRL):c.408A>G (p.Ala136=)
|
rs34445293
|
0.00606
|
|
NM_032520.5(GNPTG):c.255G>A (p.Pro85=)
|
rs76594024
|
0.00606
|
|
NM_022725.4(FANCF):c.373G>A (p.Asp125Asn)
|
rs61752920
|
0.00605
|
|
NM_017950.4(CCDC40):c.2832+466_2832+467del
|
rs570440845
|
0.00603
|
|
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys)
|
rs146092501
|
0.00602
|
|
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile)
|
rs141159831
|
0.00600
|
|
NM_001142864.4(PIEZO1):c.7505A>G (p.Lys2502Arg)
|
rs34830861
|
0.00599
|
|
NM_001378183.1(PIEZO2):c.3730G>A (p.Val1244Met)
|
rs73946020
|
0.00599
|
|
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val)
|
rs138072724
|
0.00599
|
|
NM_000498.3(CYP11B2):c.743T>C (p.Ile248Thr)
|
rs4547
|
0.00598
|
|
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe)
|
rs151296605
|
0.00596
|
|
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)
|
rs28940884
|
0.00596
|
|
NM_000518.5(HBB):c.93-23T>C
|
rs111851677
|
0.00593
|
|
NM_000492.4(CFTR):c.164+28A>G
|
rs34010645
|
0.00589
|
|
NM_002109.6(HARS1):c.14C>A (p.Ala5Glu)
|
rs78741041
|
0.00588
|
|
NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser)
|
rs76537615
|
0.00586
|
|
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)
|
rs142645936
|
0.00585
|
|
NM_198576.4(AGRN):c.67G>C (p.Val23Leu)
|
rs201073369
|
0.00583
|
|
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys)
|
rs142558269
|
0.00581
|
|
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)
|
rs138036823
|
0.00577
|
|
NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser)
|
rs111738042
|
0.00575
|
|
NM_001358921.2(COQ2):c.194A>C (p.Asp65Ala)
|
rs375934957
|
0.00574
|
|
NM_152467.5(KLHL10):c.887T>C (p.Ile296Thr)
|
rs61752339
|
0.00574
|
|
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp)
|
rs11569534
|
0.00573
|
|
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)
|
rs34911792
|
0.00573
|
|
NM_002471.4(MYH6):c.2579G>A (p.Arg860His)
|
rs115845031
|
0.00573
|
|
NM_052945.4(TNFRSF13C):c.475C>T (p.His159Tyr)
|
rs61756766
|
0.00573
|
|
NM_138694.4(PKHD1):c.2279+13T>G
|
rs188914598
|
0.00572
|
|
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=)
|
rs1800118
|
0.00570
|
|
NM_001195248.2(APTX):c.*187G>C
|
rs113638548
|
0.00570
|
|
NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser)
|
rs116621885
|
0.00569
|
|
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)
|
rs111033282
|
0.00569
|
|
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg)
|
rs17233141
|
0.00567
|
|
NM_001195248.2(APTX):c.*606G>A
|
rs111430445
|
0.00567
|
|
NM_000384.3(APOB):c.10131G>A (p.Leu3377=)
|
rs1799812
|
0.00564
|
|
NM_015272.5(RPGRIP1L):c.*491C>G
|
rs35669682
|
0.00564
|
|
NM_015192.4(PLCB1):c.2309-15A>C
|
rs117816042
|
0.00563
|
|
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn)
|
rs35865691
|
0.00562
|
|
NM_000515.5(GH1):c.406G>A (p.Val136Ile)
|
rs5388
|
0.00560
|
|
NM_006610.4(MASP2):c.467G>A (p.Cys156Tyr)
|
rs41307788
|
0.00558
|
|
NM_015570.4(AUTS2):c.2784C>T (p.Ala928=)
|
rs79439293
|
0.00558
|
|
NM_031407.7(HUWE1):c.12573C>G (p.Pro4191=)
|
rs140734968
|
0.00558
|
|
NM_199420.4(POLQ):c.4262_4268del (p.Ile1421fs)
|
rs546221341
|
0.00558
|
|
NM_004525.3(LRP2):c.8892G>A (p.Arg2964=)
|
rs149148763
|
0.00557
|
|
NM_000243.3(MEFV):c.1587+33C>G
|
rs146820856
|
0.00556
|
|
NM_000885.6(ITGA4):c.2471T>C (p.Val824Ala)
|
rs1143675
|
0.00556
|
|
NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr)
|
rs149601594
|
0.00556
|
|
NM_006493.4(CLN5):c.*180C>T
|
rs700364
|
0.00556
|
|
NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly)
|
rs142404759
|
0.00555
|
|
NM_002386.4(MC1R):c.252C>A (p.Asp84Glu)
|
rs1805006
|
0.00553
|
|
NM_000426.4(LAMA2):c.2476C>T (p.Arg826Trp)
|
rs118147866
|
0.00549
|
|
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser)
|
rs55638457
|
0.00545
|
|
NM_001308330.2(STXBP5L):c.1135G>A (p.Val379Met)
|
rs61996323
|
0.00545
|
|
NM_002273.4(KRT8):c.184G>T (p.Gly62Cys)
|
rs11554495
|
0.00545
|
|
NM_024740.2(ALG9):c.1383C>T (p.Thr461=)
|
rs45516107
|
0.00545
|
|
NM_000085.5(CLCNKB):c.1297+5G>T
|
rs35351345
|
0.00544
|
|
NM_212482.4(FN1):c.4486C>T (p.Arg1496Trp)
|
rs139078629
|
0.00542
|
|
NM_017875.4(SLC25A38):c.*431G>A
|
rs73058292
|
0.00540
|
|
NM_000059.4(BRCA2):c.-11C>T
|
rs76874770
|
0.00539
|
|
NM_001143992.2(WRAP53):c.1223G>A (p.Gly408Asp)
|
rs116535684
|
0.00539
|
|
NM_001308093.3(GATA4):c.912+25G>A
|
rs147860174
|
0.00539
|
|
NM_025059.4(CCDC170):c.1033G>A (p.Glu345Lys)
|
rs55868409
|
0.00538
|
|
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val)
|
rs146496725
|
0.00537
|
|
NM_000439.5(PCSK1):c.397-10T>C
|
rs142423997
|
0.00535
|
|
NM_014336.5(AIPL1):c.937G>T (p.Ala313Ser)
|
rs115681466
|
0.00535
|
|
NM_001112.4(ADARB1):c.1582A>G (p.Ile528Val)
|
rs146201109
|
0.00533
|
|
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys)
|
rs149840356
|
0.00532
|
|
NM_000374.5(UROD):c.952G>A (p.Gly318Arg)
|
rs116233118
|
0.00531
|
|
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu)
|
rs55866005
|
0.00531
|
|
NM_003041.4(SLC5A2):c.1961A>G (p.Asn654Ser)
|
rs61742739
|
0.00531
|
|
NM_006236.3(POU3F3):c.549C>T (p.His183=)
|
rs993106557
|
0.00531
|
|
NM_007137.5(ZNF81):c.470A>G (p.Asn157Ser)
|
rs41312157
|
0.00531
|
|
NM_005609.4(PYGM):c.645G>A (p.Lys215=)
|
rs116315896
|
0.00530
|
|
NM_001367624.2(ZNF469):c.2717C>T (p.Pro906Leu)
|
rs77951481
|
0.00528
|
|
NM_000374.5(UROD):c.758T>A (p.Leu253Gln)
|
rs36033115
|
0.00527
|
|
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser)
|
rs78239814
|
0.00525
|
|
NM_000500.9(CYP21A2):c.719T>A (p.Met240Lys)
|
rs6476
|
0.00523
|
|
NM_015272.5(RPGRIP1L):c.*1627G>A
|
rs188203905
|
0.00522
|
|
NM_145691.4(ATPAF2):c.511G>A (p.Val171Met)
|
rs62073570
|
0.00522
|
|
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
|
rs147099630
|
0.00521
|
|
NM_000292.3(PHKA2):c.1246G>A (p.Gly416Arg)
|
rs16980929
|
0.00520
|
|
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)
|
rs1800098
|
0.00519
|
|
NM_006996.3(SLC19A2):c.-114C>T
|
rs145285893
|
0.00519
|
|
NM_003172.4(SURF1):c.604G>C (p.Asp202His)
|
rs72619327
|
0.00517
|
|
NM_138694.4(PKHD1):c.1964+17G>T
|
rs201349527
|
0.00517
|
|
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)
|
rs61752783
|
0.00516
|
|
NM_003748.4(ALDH4A1):c.678+3G>A
|
rs138788183
|
0.00516
|
|
NM_013444.4(UBQLN2):c.1461C>A (p.Thr487=)
|
rs45559331
|
0.00516
|
|
NM_000037.4(ANK1):c.-204C>G
|
rs117184692
|
0.00514
|
|
NM_014363.6(SACS):c.1593C>T (p.Ile531=)
|
rs113756713
|
0.00513
|
|
NM_001160372.4(TRAPPC9):c.3163G>A (p.Val1055Ile)
|
rs35578974
|
0.00512
|
|
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn)
|
rs72677225
|
0.00512
|
|
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)
|
rs1800361
|
0.00511
|
|
NM_014639.4(SKIC3):c.4187A>G (p.Asn1396Ser)
|
rs116690692
|
0.00511
|
|
NM_001127496.3(SPRY4):c.653C>A (p.Ser218Tyr)
|
rs139512218
|
0.00510
|
|
NM_000525.4(KCNJ11):c.108G>A (p.Val36=)
|
rs112070496
|
0.00509
|
|
NM_024312.5(GNPTAB):c.137G>A (p.Arg46Gln)
|
rs117566084
|
0.00508
|
|
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser)
|
rs74315394
|
0.00508
|
|
NM_001384474.1(LOXHD1):c.1843C>A (p.Arg615=)
|
rs112463030
|
0.00507
|
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
|
NM_001940.4(ATN1):c.408C>T (p.Tyr136=)
|
rs147993402
|
0.00506
|
|
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)
|
rs146722795
|
0.00506
|
|
NM_002658.6(PLAU):c.172G>A (p.Gly58Arg)
|
rs55744193
|
0.00504
|
|
NM_004268.5(MED17):c.690C>T (p.Leu230=)
|
rs116727804
|
0.00502
|
|
NM_001113378.2(FANCI):c.976-13A>T
|
rs145864790
|
0.00501
|
|
NM_001160372.4(TRAPPC9):c.3249C>T (p.Phe1083=)
|
rs112551069
|
0.00501
|
|
NM_001987.5(ETV6):c.602T>C (p.Leu201Pro)
|
rs145477191
|
0.00501
|
|
NM_000208.4(INSR):c.3034G>A (p.Val1012Met)
|
rs1799816
|
0.00500
|
|
NM_174936.4(PCSK9):c.720C>T (p.Gly240=)
|
rs41297883
|
0.00500
|
|
NM_001276270.2(MBD4):c.1684G>C (p.Asp562His)
|
rs2307293
|
0.00496
|
|
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)
|
rs141268327
|
0.00496
|
|
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys)
|
rs144979397
|
0.00495
|
|
NM_001360.3(DHCR7):c.99-10G>A
|
rs189549129
|
0.00495
|
|
NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=)
|
rs149313666
|
0.00495
|
|
NM_000392.5(ABCC2):c.3107T>C (p.Ile1036Thr)
|
rs45441199
|
0.00494
|
|
NM_014861.4(ATP2C2):c.304G>A (p.Val102Met)
|
rs78887288
|
0.00494
|
|
NM_198576.4(AGRN):c.5201G>A (p.Arg1734His)
|
rs145444272
|
0.00493
|
|
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met)
|
rs61749417
|
0.00491
|
|
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)
|
rs121908954
|
0.00491
|
|
NM_001367624.2(ZNF469):c.11277C>T (p.Ser3759=)
|
rs372634401
|
0.00490
|
|
NM_001378778.1(MPDZ):c.3582T>G (p.Ser1194Arg)
|
rs188840960
|
0.00490
|
|
NM_000520.5(HEXA):c.-59G>A
|
rs147174351
|
0.00489
|
|
NM_001242957.3(MAK):c.1715T>C (p.Ile572Thr)
|
rs79544660
|
0.00488
|
|
NM_005373.3(MPL):c.1565+5C>T
|
rs41269541
|
0.00488
|
|
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=)
|
rs142131750
|
0.00488
|
|
NM_000030.3(AGXT):c.166-14C>T
|
rs180177176
|
0.00486
|
|
NM_000232.5(SGCB):c.*2907T>C
|
rs138349341
|
0.00486
|
|
NM_004278.4(PIGL):c.424C>A (p.Leu142Met)
|
rs115958467
|
0.00486
|
|
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala)
|
rs115330112
|
0.00485
|
|
NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser)
|
rs28362261
|
0.00485
|
|
NM_017739.4(POMGNT1):c.-11G>A
|
rs80107141
|
0.00484
|
|
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser)
|
rs34134328
|
0.00483
|
|
NM_016292.3(TRAP1):c.1330T>A (p.Tyr444Asn)
|
rs61756351
|
0.00483
|
|
NM_002156.5(HSPD1):c.27C>G (p.Arg9=)
|
rs11551349
|
0.00481
|
|
NM_000255.4(MMUT):c.1629C>T (p.Ser543=)
|
rs150642856
|
0.00479
|
|
NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys)
|
rs57865060
|
0.00478
|
|
NM_001130987.2(DYSF):c.2980-15C>T
|
rs148732505
|
0.00477
|
|
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser)
|
rs1801710
|
0.00475
|
|
NM_001142864.4(PIEZO1):c.5694G>C (p.Glu1898Asp)
|
rs201829917
|
0.00472
|
|
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met)
|
rs587784372
|
0.00471
|
|
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser)
|
rs1799802
|
0.00471
|
|
NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val)
|
rs141441058
|
0.00470
|
|
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro)
|
rs62346982
|
0.00470
|
|
NM_144687.4(NLRP12):c.3046C>T (p.Arg1016Ter)
|
rs35064500
|
0.00470
|
|
NM_005763.4(AASS):c.1678C>T (p.Pro560Ser)
|
rs74882337
|
0.00469
|
|
NM_004320.6(ATP2A1):c.663C>G (p.Gly221=)
|
rs113803159
|
0.00468
|
|
NM_024120.5(NDUFAF5):c.183G>C (p.Arg61=)
|
rs139219896
|
0.00468
|
|
NM_000407.5(GP1BB):c.399C>T (p.Ala133=)
|
rs142352780
|
0.00467
|
|
NM_000037.4(ANK1):c.3399C>T (p.Thr1133=)
|
rs117516263
|
0.00465
|
|
NM_004462.5(FDFT1):c.100-232G>C
|
rs181750463
|
0.00465
|
|
NM_001081.4(CUBN):c.2756A>G (p.His919Arg)
|
rs148869805
|
0.00464
|
|
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=)
|
rs182322608
|
0.00464
|
|
NM_007294.4(BRCA1):c.5468-10C>A
|
rs8176316
|
0.00464
|
|
NM_001364905.1(LRBA):c.3350G>T (p.Gly1117Val)
|
rs35977354
|
0.00462
|
|
NM_022436.3(ABCG5):c.1864A>G (p.Met622Val)
|
rs140374206
|
0.00461
|
|
NM_139281.3(WDR36):c.1805A>G (p.Asp602Gly)
|
rs34595252
|
0.00461
|
|
NM_000540.3(RYR1):c.12588C>T (p.Ile4196=)
|
rs61739895
|
0.00460
|
|
NM_001194998.2(CEP152):c.1866G>T (p.Leu622=)
|
rs61737684
|
0.00460
|
|
NM_002693.3(POLG):c.3198G>A (p.Thr1066=)
|
rs61752780
|
0.00460
|
|
NM_000243.3(MEFV):c.1760-4G>A
|
rs79662406
|
0.00459
|
|
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly)
|
rs72653762
|
0.00459
|
|
NM_000638.4(VTN):c.377A>T (p.Glu126Val)
|
rs112887300
|
0.00458
|
|
NM_013342.4(TFPT):c.-350G>T
|
rs45619231
|
0.00456
|
|
NM_001430.5(EPAS1):c.1121T>A (p.Phe374Tyr)
|
rs150797491
|
0.00455
|
|
NM_006567.5(FARS2):c.737C>T (p.Thr246Met)
|
rs116567033
|
0.00455
|
|
NM_015465.5(GEMIN5):c.3046C>T (p.Arg1016Cys)
|
rs61749643
|
0.00455
|
|
NM_004826.4(ECEL1):c.155T>C (p.Leu52Pro)
|
rs564717204
|
0.00453
|
|
NM_017636.4(TRPM4):c.755G>A (p.Arg252His)
|
rs146564314
|
0.00453
|
|
NM_014363.6(SACS):c.12597A>G (p.Pro4199=)
|
rs112630127
|
0.00451
|
|
NM_183357.3(ADCY5):c.1902G>C (p.Glu634Asp)
|
rs61734561
|
0.00451
|
|
NM_001199267.2(DGKZ):c.2660C>G (p.Thr887Arg)
|
rs76583617
|
0.00449
|
|
NM_006612.6(KIF1C):c.1165+4G>A
|
rs192489748
|
0.00449
|
|
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)
|
rs2020912
|
0.00448
|
|
NM_000350.3(ABCA4):c.*136G>A
|
rs55665437
|
0.00448
|
|
NM_014363.6(SACS):c.11688G>A (p.Arg3896=)
|
rs116791509
|
0.00448
|
|
NM_000231.3(SGCG):c.*185G>A
|
rs115918628
|
0.00447
|
|
NM_001317778.2(SFTPC):c.482G>A (p.Arg161Gln)
|
rs34957318
|
0.00444
|
|
NM_213599.3(ANO5):c.*166G>T
|
rs145219772
|
0.00444
|
|
NM_030973.4(MED25):c.1004C>T (p.Ala335Val)
|
rs145770066
|
0.00443
|
|
NM_052865.4(MGME1):c.532C>T (p.Arg178Trp)
|
rs143417446
|
0.00443
|
|
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)
|
rs1801673
|
0.00441
|
|
NM_000081.4(LYST):c.10800+4G>T
|
rs41308172
|
0.00441
|
|
NM_032588.4(TRIM63):c.*2G>A
|
rs77965623
|
0.00441
|
|
NM_002768.5(CHMP1A):c.210C>T (p.Asp70=)
|
rs114931496
|
0.00440
|
|
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu)
|
rs143759519
|
0.00440
|
|
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly)
|
rs142841727
|
0.00439
|
|
NM_000520.6(HEXA):c.673-13T>C
|
rs75211071
|
0.00438
|
|
NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser)
|
rs61750615
|
0.00437
|
|
NM_000552.5(VWF):c.1037C>T (p.Thr346Ile)
|
rs111971143
|
0.00436
|
|
NM_001080414.4(CCDC88C):c.3895C>T (p.Arg1299Cys)
|
rs142539336
|
0.00436
|
|
NM_001134363.3(RBM20):c.2655+15A>G
|
rs187915202
|
0.00436
|
|
NM_002693.3(POLG):c.-80C>T
|
rs3087378
|
0.00435
|
|
NM_002863.5(PYGL):c.1900G>C (p.Asp634His)
|
rs35026927
|
0.00435
|
|
NM_024301.5(FKRP):c.235G>A (p.Val79Met)
|
rs104894683
|
0.00435
|
|
NM_003126.4(SPTA1):c.6850G>A (p.Asp2284Asn)
|
rs138732899
|
0.00433
|
|
NM_004656.4(BAP1):c.2057-4G>T
|
rs149499021
|
0.00433
|
|
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln)
|
rs138787771
|
0.00432
|
|
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)
|
rs2227922
|
0.00431
|
|
NM_005689.4(ABCB6):c.1762G>A (p.Gly588Ser)
|
rs145526996
|
0.00431
|
|
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg)
|
rs74085882
|
0.00430
|
|
NM_001164508.2(NEB):c.19455G>A (p.Lys6485=)
|
rs182847302
|
0.00430
|
|
NM_006412.4(AGPAT2):c.475C>T (p.Arg159Cys)
|
rs142993240
|
0.00430
|
|
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val)
|
rs145401010
|
0.00428
|
|
NM_001384900.1(SEMA3D):c.1272C>A (p.His424Gln)
|
rs141893504
|
0.00428
|
|
NM_001739.2(CA5A):c.749A>G (p.Glu250Gly)
|
rs146136907
|
0.00428
|
|
NM_004970.3(IGFALS):c.860C>T (p.Pro287Leu)
|
rs35706152
|
0.00428
|
|
NM_007374.3(SIX6):c.385G>A (p.Glu129Lys)
|
rs146737847
|
0.00428
|
|
NM_001367805.3(KIF23):c.293A>G (p.Asn98Ser)
|
rs61751120
|
0.00427
|
|
NM_007078.3(LDB3):c.690-4A>G
|
rs45529531
|
0.00427
|
|
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val)
|
rs116005007
|
0.00425
|
|
NM_000186.4(CFH):c.2850G>T (p.Gln950His)
|
rs149474608
|
0.00425
|
|
NM_000350.3(ABCA4):c.4925G>T (p.Ser1642Ile)
|
rs114518437
|
0.00425
|
|
NM_003126.4(SPTA1):c.1078A>T (p.Thr360Ser)
|
rs34133563
|
0.00424
|
|
NM_003126.4(SPTA1):c.33G>C (p.Glu11Asp)
|
rs41273533
|
0.00424
|
|
NM_152750.5(CDHR3):c.1516C>T (p.Leu506Phe)
|
rs76067797
|
0.00424
|
|
NM_031885.5(BBS2):c.805-20A>G
|
rs41280892
|
0.00423
|
|
NM_000492.4(CFTR):c.-226G>T
|
rs73717525
|
0.00422
|
|
NM_000245.4(MET):c.504G>T (p.Glu168Asp)
|
rs55985569
|
0.00420
|
|
NM_022124.6(CDH23):c.*361C>A
|
rs115033851
|
0.00420
|
|
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr)
|
rs151268759
|
0.00419
|
|
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)
|
rs28897689
|
0.00419
|
|
NM_020366.4(RPGRIP1):c.930+3A>G
|
rs150107283
|
0.00419
|
|
NM_001142864.4(PIEZO1):c.2423G>A (p.Arg808Gln)
|
rs202103485
|
0.00418
|
|
NM_001375405.1(CEP120):c.2134C>T (p.Leu712Phe)
|
rs114280473
|
0.00417
|
|
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala)
|
rs147756847
|
0.00416
|
|
NM_032444.4(SLX4):c.1637A>G (p.Tyr546Cys)
|
rs150547487
|
0.00416
|
|
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile)
|
rs8177988
|
0.00414
|
|
NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe)
|
rs61755770
|
0.00414
|
|
NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser)
|
rs200970763
|
0.00414
|
|
NM_000747.3(CHRNB1):c.342G>A (p.Val114=)
|
rs75019736
|
0.00411
|
|
NM_000163.5(GHR):c.535C>T (p.Arg179Cys)
|
rs121909362
|
0.00410
|
|
NM_000030.3(AGXT):c.*19G>A
|
rs143458283
|
0.00409
|
|
NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe)
|
rs138886378
|
0.00409
|
|
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val)
|
rs73740379
|
0.00408
|
|
NM_000037.4(ANK1):c.1506C>T (p.Ala502=)
|
rs34387324
|
0.00407
|
|
NM_012179.4(FBXO7):c.122+9G>A
|
rs192327462
|
0.00407
|
|
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr)
|
rs45503297
|
0.00407
|
|
NM_000261.2(MYOC):c.1193A>G (p.Lys398Arg)
|
rs56314834
|
0.00406
|
|
NM_001378778.1(MPDZ):c.2580A>G (p.Leu860=)
|
rs34704118
|
0.00406
|
|
NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln)
|
rs35669708
|
0.00406
|
|
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg)
|
rs141287105
|
0.00406
|
|
NM_000224.3(KRT18):c.689G>C (p.Ser230Thr)
|
rs58472472
|
0.00405
|
|
NM_002439.5(MSH3):c.2254-19T>G
|
rs41562717
|
0.00405
|
|
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)
|
rs188164241
|
0.00405
|
|
NM_000383.4(AIRE):c.595G>A (p.Val199Ile)
|
rs74162061
|
0.00404
|
|
NM_000512.5(GALNS):c.359C>T (p.Ser120Leu)
|
rs112454391
|
0.00404
|
|
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln)
|
rs72647894
|
0.00404
|
|
NM_002294.3(LAMP2):c.1093+2514G>A
|
rs144140265
|
0.00404
|
|
NM_004608.4(TBX6):c.484G>A (p.Gly162Ser)
|
rs56098093
|
0.00404
|
|
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe)
|
rs16955851
|
0.00404
|
|
NM_033100.4(CDHR1):c.1868A>G (p.Asn623Ser)
|
rs137876961
|
0.00404
|
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
|
NM_018238.3(AGK):c.-100G>A
|
rs552726046
|
0.00401
|
|
NM_000552.5(VWF):c.5170+10C>T
|
rs61750601
|
0.00400
|
|
NM_001478.5(B4GALNT1):c.*2667C>T
|
rs113207856
|
0.00400
|
|
NM_001916.5(CYC1):c.227T>C (p.Met76Thr)
|
rs144257411
|
0.00400
|
|
NM_000022.4(ADA):c.425G>A (p.Arg142Gln)
|
rs61732239
|
0.00399
|
|
NM_000214.3(JAG1):c.-384T>G
|
rs559044448
|
0.00399
|
|
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu)
|
rs35001569
|
0.00399
|
|
NM_004531.5(MOCS2):c.367C>T (p.His123Tyr)
|
rs2233218
|
0.00399
|
|
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp)
|
rs61749249
|
0.00399
|
|
NM_006432.5(NPC2):c.441+1G>A
|
rs140130028
|
0.00399
|
|
NM_000249.4(MLH1):c.307-29C>A
|
rs139620056
|
0.00398
|
|
NM_000251.3(MSH2):c.1662-9G>A
|
rs17218356
|
0.00398
|
|
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu)
|
rs112306990
|
0.00398
|
|
NM_005589.4(ALDH6A1):c.755C>T (p.Pro252Leu)
|
rs139579994
|
0.00398
|
|
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys)
|
rs149694033
|
0.00397
|
|
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser)
|
rs28940272
|
0.00396
|
|
NM_030787.4(CFHR5):c.1135G>C (p.Val379Leu)
|
rs111327589
|
0.00395
|
|
NM_000081.4(LYST):c.1686G>C (p.Gln562His)
|
rs77091385
|
0.00394
|
|
NM_004076.5(CRYBB3):c.38C>G (p.Ala13Gly)
|
rs147831812
|
0.00394
|
|
NM_019040.5(ELP4):c.*2740G>A
|
rs149777109
|
0.00394
|
|
NM_018136.5(ASPM):c.7554A>G (p.Arg2518=)
|
rs140248383
|
0.00393
|
|
NM_022340.4(RBSN):c.1273G>A (p.Gly425Arg)
|
rs144008665
|
0.00393
|
|
NM_001102401.4(TTI2):c.1063C>T (p.Arg355Cys)
|
rs138108276
|
0.00392
|
|
NM_001134363.3(RBM20):c.1275+13A>G
|
rs373230569
|
0.00392
|
|
NM_016219.5(MAN1B1):c.794G>A (p.Arg265His)
|
rs114057640
|
0.00392
|
|
NM_144687.4(NLRP12):c.910C>T (p.His304Tyr)
|
rs141245482
|
0.00392
|
|
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe)
|
rs116262072
|
0.00392
|
|
NM_000018.4(ACADVL):c.308A>G (p.Lys103Arg)
|
rs140566084
|
0.00391
|
|
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys)
|
rs45608240
|
0.00391
|
|
NM_018389.5(SLC35C1):c.1054C>T (p.Pro352Ser)
|
rs145613857
|
0.00391
|
|
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)
|
rs16024
|
0.00390
|
|
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys)
|
rs35932623
|
0.00390
|
|
NM_022134.3(GAL3ST2):c.29+1G>A
|
rs78620448
|
0.00390
|
|
NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg)
|
rs187695569
|
0.00389
|
|
NM_006208.3(ENPP1):c.313+10del
|
rs778260177
|
0.00389
|
|
NM_001122659.3(EDNRB):c.*296A>G
|
rs12720203
|
0.00388
|
|
NM_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val)
|
rs34315917
|
0.00388
|
|
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=)
|
rs35346129
|
0.00388
|
|
NM_006899.5(IDH3B):c.117+6C>A
|
rs191680997
|
0.00388
|
|
NM_022041.4(GAN):c.1684C>G (p.Pro562Ala)
|
rs79901179
|
0.00388
|
|
NM_018368.3(LMBRD1):c.-276A>G
|
rs148064952
|
0.00387
|
|
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala)
|
rs61749435
|
0.00385
|
|
NM_022124.6(CDH23):c.*515C>A
|
rs16929375
|
0.00385
|
|
NM_000036.3(AMPD1):c.930G>T (p.Met310Ile)
|
rs61752478
|
0.00384
|
|
NM_001270974.2(HYDIN):c.131G>A (p.Arg44Gln)
|
rs113448164
|
0.00384
|
|
NM_003227.4(TFR2):c.1127C>A (p.Ala376Asp)
|
rs41303495
|
0.00384
|
|
NM_001098.3(ACO2):c.220C>G (p.Leu74Val)
|
rs141772938
|
0.00383
|
|
NM_006393.3(NEBL):c.180G>C (p.Lys60Asn)
|
rs41277374
|
0.00382
|
|
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser)
|
rs137853921
|
0.00380
|
|
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn)
|
rs112822256
|
0.00379
|
|
NM_006612.6(KIF1C):c.1111G>A (p.Ala371Thr)
|
rs142056835
|
0.00379
|
|
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
|
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr)
|
rs72650011
|
0.00378
|
|
NM_000130.5(F5):c.4035A>G (p.Gln1345=)
|
rs886045547
|
0.00377
|
|
NM_000782.5(CYP24A1):c.470G>A (p.Arg157Gln)
|
rs35051736
|
0.00377
|
|
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys)
|
rs72648272
|
0.00377
|
|
NM_001190417.2(ZNF674):c.586C>T (p.Arg196Ter)
|
rs182004761
|
0.00376
|
|
NM_017999.5(RNF31):c.415G>A (p.Glu139Lys)
|
rs45466595
|
0.00376
|
|
NM_000492.4(CFTR):c.-812T>G
|
rs181008242
|
0.00375
|
|
NM_006996.3(SLC19A2):c.561G>T (p.Leu187=)
|
rs150548640
|
0.00374
|
|
NM_017739.4(POMGNT1):c.*221G>A
|
rs181362801
|
0.00374
|
|
NM_000123.4(ERCC5):c.2877A>C (p.Arg959Ser)
|
rs41281674
|
0.00373
|
|
NM_000430.4(PAFAH1B1):c.*1042_*1043del
|
rs55976318
|
0.00373
|
|
NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp)
|
rs201472270
|
0.00373
|
|
NM_006262.4(PRPH):c.421G>T (p.Asp141Tyr)
|
rs58599399
|
0.00373
|
|
NM_000202.8(IDS):c.754G>A (p.Asp252Asn)
|
rs146458524
|
0.00372
|
|
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg)
|
rs148999583
|
0.00372
|
|
NM_003560.4(PLA2G6):c.495G>C (p.Gly165=)
|
rs150190277
|
0.00372
|
|
NM_000271.5(NPC1):c.1947+14_1947+15insC
|
rs201170241
|
0.00371
|
|
NM_001206979.2(NR1H4):c.518T>C (p.Met173Thr)
|
rs61755050
|
0.00371
|
|
NM_004260.4(RECQL4):c.3314G>A (p.Gly1105Asp)
|
rs36078464
|
0.00371
|
|
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe)
|
rs45517932
|
0.00371
|
|
NM_000204.5(CFI):c.1246A>C (p.Ile416Leu)
|
rs61733901
|
0.00369
|
|
NM_000243.3(MEFV):c.42G>A (p.Glu14=)
|
rs113314808
|
0.00369
|
|
NM_000275.3(OCA2):c.1109T>C (p.Ile370Thr)
|
rs34731820
|
0.00369
|
|
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser)
|
rs143037290
|
0.00369
|
|
NM_002465.4(MYBPC1):c.129C>T (p.Ser43=)
|
rs138170393
|
0.00369
|
|
NM_020366.4(RPGRIP1):c.2878G>C (p.Ala960Pro)
|
rs35810926
|
0.00369
|
|
NM_033337.3(CAV3):c.*805C>A
|
rs186579720
|
0.00369
|
|
NM_001080449.3(DNA2):c.2153G>T (p.Cys718Phe)
|
rs147096750
|
0.00367
|
|
NM_001384474.1(LOXHD1):c.6034G>A (p.Glu2012Lys)
|
rs79045813
|
0.00367
|
|
NM_003126.4(SPTA1):c.5911G>A (p.Asp1971Asn)
|
rs116466258
|
0.00367
|
|
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter)
|
rs35744605
|
0.00367
|
|
NM_138370.3(PKDCC):c.304C>G (p.Pro102Ala)
|
rs534596867
|
0.00367
|
|
NM_152467.5(KLHL10):c.647A>C (p.Gln216Pro)
|
rs116420871
|
0.00367
|
|
NM_173648.4(CCDC141):c.2299G>A (p.Asp767Asn)
|
rs141939661
|
0.00367
|
|
NM_003356.4(UCP3):c.332C>T (p.Ala111Val)
|
rs74907838
|
0.00366
|
|
NM_006996.2(SLC19A2):c.-196C>A
|
rs72542444
|
0.00366
|
|
NM_014336.5(AIPL1):c.267C>T (p.Cys89=)
|
rs62653020
|
0.00366
|
|
NM_000266.4(NDP):c.*14G>A
|
rs73475744
|
0.00365
|
|
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala)
|
rs56201325
|
0.00364
|
|
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)
|
rs61752784
|
0.00364
|
|
NM_052854.4(CREB3L1):c.599A>T (p.Asp200Val)
|
rs187725533
|
0.00364
|
|
NM_152468.5(TMC8):c.1982C>T (p.Pro661Leu)
|
rs139972217
|
0.00364
|
|
NM_001164508.2(NEB):c.1413C>T (p.Phe471=)
|
rs112958786
|
0.00363
|
|
NM_002892.4(ARID4A):c.3211+1G>A
|
rs62621193
|
0.00363
|
|
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)
|
rs4988345
|
0.00363
|
|
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=)
|
rs61733679
|
0.00362
|
|
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)
|
rs17227403
|
0.00362
|
|
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)
|
rs28938473
|
0.00362
|
|
NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn)
|
rs141932807
|
0.00362
|
|
NM_213595.4(ISCU):c.10G>C (p.Ala4Pro)
|
rs558084375
|
0.00362
|
|
NM_001394062.1(MACF1):c.3450G>A (p.Lys1150=)
|
rs147586507
|
0.00361
|
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
|
NM_001067.4(TOP2A):c.1737+5G>A
|
rs140672916
|
0.00360
|
|
NM_001813.3(CENPE):c.4791A>C (p.Arg1597Ser)
|
rs61751594
|
0.00360
|
|
NM_006059.4(LAMC3):c.4092C>T (p.Ser1364=)
|
rs141724499
|
0.00360
|
|
NM_031272.5(TEX14):c.709C>G (p.Gln237Glu)
|
rs35551271
|
0.00360
|
|
NM_181078.3(IL21R):c.137C>T (p.Thr46Met)
|
rs137946070
|
0.00360
|
|
NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln)
|
rs118083923
|
0.00359
|
|
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu)
|
rs10482810
|
0.00359
|
|
NM_003977.4(AIP):c.100-18C>T
|
rs202156895
|
0.00359
|
|
NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys)
|
rs146569520
|
0.00359
|
|
NM_004560.4(ROR2):c.2285C>T (p.Ser762Leu)
|
rs34491822
|
0.00357
|
|
NM_014336.5(AIPL1):c.140C>G (p.Thr47Arg)
|
rs150656720
|
0.00357
|
|
NM_000384.3(APOB):c.3383G>A (p.Arg1128His)
|
rs12713843
|
0.00356
|
|
NM_052813.5(CARD9):c.809A>T (p.Glu270Val)
|
rs114895119
|
0.00356
|
|
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys)
|
rs41303287
|
0.00356
|
|
NM_004004.6(GJB2):c.-6T>A
|
rs148136545
|
0.00355
|
|
NM_199242.3(UNC13D):c.2335G>A (p.Val779Met)
|
rs113861754
|
0.00355
|
|
NM_001379180.1(ESRRB):c.*1474T>C
|
rs188462546
|
0.00354
|
|
NM_001384474.1(LOXHD1):c.1708G>A (p.Asp570Asn)
|
rs140437150
|
0.00354
|
|
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly)
|
rs114557412
|
0.00354
|
|
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val)
|
rs78042826
|
0.00353
|
|
NM_019066.5(MAGEL2):c.1286C>T (p.Pro429Leu)
|
rs2233061
|
0.00353
|
|
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser)
|
rs34084984
|
0.00352
|
|
NM_000330.4(RS1):c.184+3118C>T
|
rs139155110
|
0.00352
|
|
NM_000525.4(KCNJ11):c.-498T>C
|
rs529946415
|
0.00352
|
|
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met)
|
rs61751302
|
0.00352
|
|
NM_005502.4(ABCA1):c.1196T>C (p.Val399Ala)
|
rs9282543
|
0.00352
|
|
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=)
|
rs41313693
|
0.00351
|
|
NM_000519.4(HBD):c.*102G>A
|
rs80018520
|
0.00351
|
|
NM_024876.4(COQ8B):c.187C>T (p.Arg63Trp)
|
rs113358395
|
0.00351
|
|
NM_000373.4(UMPS):c.88A>G (p.Ser30Gly)
|
rs17843776
|
0.00350
|
|
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)
|
rs115545701
|
0.00350
|
|
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser)
|
rs145910245
|
0.00349
|
|
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=)
|
rs41313703
|
0.00349
|
|
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=)
|
rs147258619
|
0.00349
|
|
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met)
|
rs115784602
|
0.00349
|
|
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser)
|
rs17027133
|
0.00349
|
|
NM_001723.7(DST):c.3336G>C (p.Glu1112Asp)
|
rs34767818
|
0.00349
|
|
NM_139058.3(ARX):c.1671G>A (p.Thr557=)
|
rs190910161
|
0.00349
|
|
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu)
|
rs59912467
|
0.00348
|
|
NM_000504.4(F10):c.424G>A (p.Glu142Lys)
|
rs61753266
|
0.00347
|
|
NM_001098816.3(TENM4):c.2804C>G (p.Pro935Arg)
|
rs141706152
|
0.00347
|
|
NM_002206.3(ITGA7):c.2644G>A (p.Glu882Lys)
|
rs144983062
|
0.00347
|
|
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)
|
rs28383481
|
0.00347
|
|
NM_014363.6(SACS):c.171+13C>T
|
rs374672041
|
0.00347
|
|
NM_022124.6(CDH23):c.2954-14G>A
|
rs191534381
|
0.00347
|
|
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe)
|
rs11571659
|
0.00346
|
|
NM_000156.6(GAMT):c.79T>C (p.Tyr27His)
|
rs200833152
|
0.00345
|
|
NM_000330.4(RS1):c.184+3199G>A
|
rs36022183
|
0.00345
|
|
NM_025009.5(CEP135):c.2990C>T (p.Ser997Leu)
|
rs146076380
|
0.00345
|
|
NM_032608.7(MYO18B):c.7147C>T (p.Arg2383Trp)
|
rs192639023
|
0.00345
|
|
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn)
|
rs201370621
|
0.00344
|
|
NM_025074.7(FRAS1):c.5046C>G (p.Asp1682Glu)
|
rs35219594
|
0.00344
|
|
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg)
|
rs187401185
|
0.00343
|
|
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)
|
rs118203657
|
0.00343
|
|
NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser)
|
rs145110602
|
0.00343
|
|
NM_001363711.2(DUOX2):c.1921G>A (p.Glu641Lys)
|
rs139161034
|
0.00343
|
|
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala)
|
rs138427376
|
0.00342
|
|
NM_001165967.2(HES7):c.591C>T (p.Pro197=)
|
rs558811781
|
0.00342
|
|
NM_001291303.3(FAT4):c.3658T>A (p.Ser1220Thr)
|
rs181368820
|
0.00342
|
|
NM_004525.3(LRP2):c.149C>G (p.Thr50Ser)
|
rs114460450
|
0.00342
|
|
NM_000243.3(MEFV):c.1467G>A (p.Gln489=)
|
rs61732424
|
0.00341
|
|
NM_002661.5(PLCG2):c.1444T>C (p.Tyr482His)
|
rs187956469
|
0.00341
|
|
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly)
|
rs113593896
|
0.00341
|
|
NM_001184.4(ATR):c.2290A>G (p.Lys764Glu)
|
rs77208665
|
0.00340
|
|
NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys)
|
rs5743277
|
0.00340
|
|
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly)
|
rs150925674
|
0.00340
|
|
NM_001394062.1(MACF1):c.7194C>A (p.Ala2398=)
|
rs141334491
|
0.00339
|
|
NM_006059.4(LAMC3):c.2891-8C>T
|
rs199535979
|
0.00339
|
|
NM_014236.4(GNPAT):c.555A>T (p.Ile185=)
|
rs34613633
|
0.00339
|
|
NM_021870.3(FGG):c.571G>A (p.Gly191Arg)
|
rs6063
|
0.00339
|
|
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)
|
rs147077184
|
0.00338
|
|
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)
|
rs11971167
|
0.00338
|
|
NM_000527.4(LDLR):c.-217C>T
|
rs17249141
|
0.00338
|
|
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys)
|
rs147025508
|
0.00338
|
|
NM_005472.5(KCNE3):c.248G>A (p.Arg83His)
|
rs17215437
|
0.00338
|
|
NM_015311.3(OBSL1):c.4732C>T (p.Gln1578Ter)
|
rs116131367
|
0.00337
|
|
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=)
|
rs116204385
|
0.00336
|
|
NM_001164508.2(NEB):c.5555T>G (p.Met1852Arg)
|
rs144180493
|
0.00336
|
|
NM_006393.3(NEBL):c.480+3A>G
|
rs71578983
|
0.00336
|
|
NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu)
|
rs148934699
|
0.00336
|
|
NM_020066.5(FMN2):c.1259A>C (p.Lys420Thr)
|
rs146681532
|
0.00336
|
|
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)
|
rs121909046
|
0.00335
|
|
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His)
|
rs34819316
|
0.00334
|
|
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=)
|
rs118126378
|
0.00334
|
|
NM_000562.3(C8A):c.1331G>A (p.Arg444His)
|
rs143908758
|
0.00334
|
|
NM_001164508.2(NEB):c.22122C>G (p.Asp7374Glu)
|
rs192402741
|
0.00334
|
|
NM_001367624.2(ZNF469):c.2841G>A (p.Arg947=)
|
rs150435442
|
0.00334
|
|
NM_020631.6(PLEKHG5):c.1724C>T (p.Pro575Leu)
|
rs77134982
|
0.00334
|
|
NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile)
|
rs183413880
|
0.00334
|
|
NM_198407.2(GHSR):c.531C>A (p.Pro177=)
|
rs4988509
|
0.00334
|
|
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser)
|
rs199689193
|
0.00333
|
|
NM_001291303.3(FAT4):c.12070C>T (p.Arg4024Trp)
|
rs138019311
|
0.00333
|
|
NM_002206.3(ITGA7):c.2146A>C (p.Met716Leu)
|
rs149403824
|
0.00333
|
|
NM_006363.6(SEC23B):c.221+76A>G
|
rs183784857
|
0.00333
|
|
NM_018249.6(CDK5RAP2):c.2655C>G (p.Phe885Leu)
|
rs112600265
|
0.00333
|
|
NM_000222.3(KIT):c.-14T>A
|
rs140909964
|
0.00332
|
|
NM_000285.4(PEPD):c.1294G>A (p.Ala432Thr)
|
rs149042427
|
0.00332
|
|
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)
|
rs111540787
|
0.00332
|
|
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala)
|
rs72667032
|
0.00331
|
|
NM_000313.4(PROS1):c.1528G>A (p.Val510Met)
|
rs138925964
|
0.00331
|
|
NM_012254.3(SLC27A5):c.1160G>A (p.Arg387Gln)
|
rs142672241
|
0.00331
|
|
NM_001355436.2(SPTB):c.345T>C (p.Asn115=)
|
rs17180518
|
0.00330
|
|
NM_000218.3(KCNQ1):c.*717T>G
|
rs189162344
|
0.00329
|
|
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)
|
rs55680026
|
0.00329
|
|
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys)
|
rs138490756
|
0.00328
|
|
NM_198904.4(GABRG2):c.*348A>G
|
rs192973258
|
0.00328
|
|
NM_000245.4(MET):c.2908C>T (p.Arg970Cys)
|
rs34589476
|
0.00327
|
|
NM_000687.4(AHCY):c.274A>G (p.Ile92Val)
|
rs11552695
|
0.00327
|
|
NM_001148.6(ANK2):c.10861C>G (p.Leu3621Val)
|
rs45570339
|
0.00327
|
|
NM_001257096.2(PAX1):c.1282+12A>C
|
rs368123079
|
0.00327
|
|
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn)
|
rs78727187
|
0.00327
|
|
NM_005656.4(TMPRSS2):c.1467G>A (p.Arg489=)
|
rs142750000
|
0.00327
|
|
NM_001244008.2(KIF1A):c.3202+10C>A
|
rs190997558
|
0.00326
|
|
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met)
|
rs143669458
|
0.00326
|
|
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)
|
rs34382952
|
0.00326
|
|
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu)
|
rs144420697
|
0.00325
|
|
NM_000350.3(ABCA4):c.4352+14C>T
|
rs75359153
|
0.00325
|
|
NM_000222.3(KIT):c.1383A>G (p.Thr461=)
|
rs151016327
|
0.00324
|
|
NM_007374.3(SIX6):c.614T>G (p.Leu205Arg)
|
rs45549246
|
0.00324
|
|
NM_014244.5(ADAMTS2):c.2751-4G>A
|
rs112155474
|
0.00324
|
|
NM_014862.4(ARNT2):c.1707G>T (p.Gln569His)
|
rs145379118
|
0.00324
|
|
NM_001606.5(ABCA2):c.5134G>A (p.Gly1712Ser)
|
rs149871834
|
0.00323
|
|
NM_020822.3(KCNT1):c.99A>G (p.Gln33=)
|
rs146152956
|
0.00323
|
|
NM_001005498.4(RHBDF2):c.1495G>T (p.Asp499Tyr)
|
rs11553545
|
0.00322
|
|
NM_001386125.1(OBSCN):c.35T>A (p.Phe12Tyr)
|
rs191837710
|
0.00322
|
|
NM_017668.3(NDE1):c.*286G>A
|
rs558625464
|
0.00322
|
|
NM_018062.4(FANCL):c.112C>T (p.Leu38Phe)
|
rs55849827
|
0.00322
|
|
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=)
|
rs111866498
|
0.00321
|
|
NM_023036.6(DNAI2):c.468-4G>T
|
rs146462823
|
0.00321
|
|
NM_148923.4(CYB5A):c.13T>G (p.Ser5Ala)
|
rs75160992
|
0.00321
|
|
NM_201384.3(PLEC):c.7267G>A (p.Ala2423Thr)
|
rs193257576
|
0.00321
|
|
NM_000070.3(CAPN3):c.1746-20C>G
|
rs201892814
|
0.00320
|
|
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn)
|
rs137852783
|
0.00320
|
|
NM_001365951.3(KIF1B):c.2115+7031T>C
|
rs149267056
|
0.00320
|
|
NM_175914.4(HNF4A):c.-401G>A
|
rs537336047
|
0.00320
|
|
NM_213599.3(ANO5):c.680G>C (p.Gly227Ala)
|
rs140903276
|
0.00320
|
|
NM_000527.5(LDLR):c.1920C>T (p.Asn640=)
|
rs5926
|
0.00319
|
|
NM_001372044.2(SHANK3):c.5185C>A (p.Pro1729Thr)
|
rs749130556
|
0.00319
|
|
NM_021927.3(GUF1):c.748C>T (p.Arg250Cys)
|
rs116062572
|
0.00319
|
|
NR_003051.4(RMRP):n.129G>C
|
rs74810894
|
0.00319
|
|
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)
|
rs71534278
|
0.00318
|
|
NM_000125.4(ESR1):c.16C>T (p.His6Tyr)
|
rs139960913
|
0.00317
|
|
NM_033337.3(CAV3):c.233C>T (p.Thr78Met)
|
rs72546668
|
0.00317
|
|
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg)
|
rs75977701
|
0.00316
|
|
NM_001368067.1(LDB3):c.546T>C (p.Ser182=)
|
rs71473272
|
0.00316
|
|
NM_001368809.2(AMPD2):c.1242C>T (p.Tyr414=)
|
rs114727970
|
0.00316
|
|
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys)
|
rs61733519
|
0.00316
|
|
NM_014362.4(HIBCH):c.796G>A (p.Asp266Asn)
|
rs144053672
|
0.00316
|
|
NM_020921.4(NIN):c.3197T>A (p.Val1066Asp)
|
rs78280523
|
0.00316
|
|
NM_198253.3(TERT):c.1234C>T (p.His412Tyr)
|
rs34094720
|
0.00316
|
|
NM_000203.5(IDUA):c.1345C>A (p.His449Asn)
|
rs532731688
|
0.00315
|
|
NM_001042432.2(CLN3):c.-129G>C
|
rs141305257
|
0.00315
|
|
NM_014270.5(SLC7A9):c.978-17G>A
|
rs45628833
|
0.00315
|
|
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met)
|
rs73003348
|
0.00315
|
|
NM_032122.5(DTNBP1):c.702C>T (p.Asn234=)
|
rs78181071
|
0.00315
|
|
NM_000053.4(ATP7B):c.3557-6C>T
|
rs140708492
|
0.00314
|
|
NM_004393.6(DAG1):c.258G>C (p.Leu86Phe)
|
rs145403829
|
0.00314
|
|
NM_000251.3(MSH2):c.339G>A (p.Lys113=)
|
rs35898375
|
0.00313
|
|
NM_006846.4(SPINK5):c.1964G>A (p.Gly655Asp)
|
rs142227576
|
0.00313
|
|
NM_000540.3(RYR1):c.9685+16C>T
|
rs45496799
|
0.00312
|
|
NM_001065.4(TNFRSF1A):c.-96C>T
|
rs115164694
|
0.00312
|
|
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg)
|
rs114089598
|
0.00312
|
|
NM_001368809.2(AMPD2):c.1407+3A>G
|
rs41280332
|
0.00312
|
|
NM_001372106.1(DNAH10):c.3337C>T (p.Arg1113Trp)
|
rs118146260
|
0.00312
|
|
NM_001399.5(EDA):c.206G>T (p.Arg69Leu)
|
rs132630309
|
0.00312
|
|
NM_005529.7(HSPG2):c.13088C>T (p.Ser4363Leu)
|
rs62642502
|
0.00312
|
|
NM_001114753.3(ENG):c.1510G>A (p.Val504Met)
|
rs116330805
|
0.00311
|
|
NM_002470.4(MYH3):c.4910C>T (p.Ala1637Val)
|
rs34165480
|
0.00311
|
|
NM_017636.4(TRPM4):c.3611C>T (p.Pro1204Leu)
|
rs150391806
|
0.00310
|
|
NM_020975.6(RET):c.166C>A (p.Leu56Met)
|
rs145633958
|
0.00310
|
|
NM_032634.4(PIGO):c.2268G>A (p.Ala756=)
|
rs149171782
|
0.00310
|
|
NM_000371.4(TTR):c.336+19G>A
|
rs75517067
|
0.00309
|
|
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu)
|
rs114973968
|
0.00309
|
|
NM_001201543.2(FAM161A):c.1153C>G (p.Gln385Glu)
|
rs139266382
|
0.00309
|
|
NM_033004.4(NLRP1):c.2605G>A (p.Glu869Lys)
|
rs146505967
|
0.00309
|
|
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)
|
rs28935490
|
0.00308
|
|
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)
|
rs41292677
|
0.00308
|
|
NM_001182.4(ALDH7A1):c.-80T>G
|
rs563928852
|
0.00308
|
|
NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=)
|
rs72657304
|
0.00308
|
|
NM_005993.5(TBCD):c.2852+3A>G
|
rs187081192
|
0.00308
|
|
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu)
|
rs56344740
|
0.00307
|
|
NM_001036.6(RYR3):c.9254C>G (p.Pro3085Arg)
|
rs61996335
|
0.00307
|
|
NM_001277115.2(DNAH11):c.9935A>T (p.Asp3312Val)
|
rs72657389
|
0.00307
|
|
NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val)
|
rs61747625
|
0.00307
|
|
NM_002253.4(KDR):c.2066C>T (p.Thr689Met)
|
rs34038364
|
0.00307
|
|
NM_002693.3(POLG):c.2481-7C>T
|
rs2307448
|
0.00307
|
|
NM_005120.3(MED12):c.1248+15T>C
|
rs187377817
|
0.00307
|
|
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe)
|
rs139913632
|
0.00307
|
|
NM_017999.5(RNF31):c.1865A>T (p.Gln622Leu)
|
rs149481717
|
0.00307
|
|
NM_032977.4(CASP10):c.1216A>T (p.Ile406Leu)
|
rs80358239
|
0.00307
|
|
NM_000540.3(RYR1):c.12956G>A (p.Arg4319Gln)
|
rs539194350
|
0.00306
|
|
NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met)
|
rs61731477
|
0.00306
|
|
NM_006416.5(SLC35A1):c.133A>G (p.Thr45Ala)
|
rs145006535
|
0.00306
|
|
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile)
|
rs187043152
|
0.00306
|
|
NM_022081.6(HPS4):c.250A>G (p.Ile84Val)
|
rs149830675
|
0.00306
|
|
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val)
|
rs146920285
|
0.00306
|
|
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=)
|
rs11840224
|
0.00305
|
|
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys)
|
rs1801696
|
0.00305
|
|
NM_002528.7(NTHL1):c.113C>T (p.Ala38Val)
|
rs202082304
|
0.00305
|
|
NM_019885.4(CYP26B1):c.572G>A (p.Arg191His)
|
rs76025186
|
0.00305
|
|
NM_001365536.1(SCN9A):c.3361C>T (p.Arg1121Trp)
|
rs190664764
|
0.00304
|
|
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu)
|
rs34000644
|
0.00304
|
|
NM_015450.3(POT1):c.903G>T (p.Gln301His)
|
rs116916706
|
0.00304
|
|
NM_000057.4(BLM):c.2160C>T (p.Ile720=)
|
rs28385028
|
0.00303
|
|
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg)
|
rs13336566
|
0.00303
|
|
NM_000781.3(CYP11A1):c.235G>A (p.Val79Ile)
|
rs143655263
|
0.00303
|
|
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln)
|
rs188101277
|
0.00303
|
|
NM_007208.4(MRPL3):c.931G>A (p.Gly311Ser)
|
rs148679749
|
0.00303
|
|
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu)
|
rs142813109
|
0.00303
|
|
NM_019040.5(ELP4):c.*3242G>A
|
rs187705792
|
0.00303
|
|
NM_000275.3(OCA2):c.1744C>T (p.Leu582=)
|
rs61751032
|
0.00302
|
|
NM_024596.5(MCPH1):c.1495G>A (p.Val499Met)
|
rs146586991
|
0.00302
|
|
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His)
|
rs34295241
|
0.00302
|
|
NM_080473.5(GATA5):c.56C>G (p.Ser19Trp)
|
rs200383755
|
0.00302
|
|
NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=)
|
rs141743294
|
0.00302
|
|
NM_002163.4(IRF8):c.602C>T (p.Ala201Val)
|
rs144424711
|
0.00301
|
|
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr)
|
rs55688530
|
0.00301
|
|
NM_201384.3(PLEC):c.4651C>T (p.Arg1551Cys)
|
rs2857824
|
0.00301
|
|
NM_000101.4(CYBA):c.403G>A (p.Glu135Lys)
|
rs114610092
|
0.00300
|
|
NM_000760.4(CSF3R):c.447G>C (p.Glu149Asp)
|
rs139332126
|
0.00300
|
|
NM_001110219.3(GJB6):c.489G>A (p.Leu163=)
|
rs35002004
|
0.00300
|
|
NM_005918.4(MDH2):c.415G>A (p.Val139Ile)
|
rs111879470
|
0.00300
|
|
NM_018122.5(DARS2):c.128-4A>T
|
rs769597479
|
0.00300
|
|
NM_020361.5(CPA6):c.809C>T (p.Ala270Val)
|
rs114402678
|
0.00300
|
|
NM_000236.3(LIPC):c.1214C>T (p.Thr405Met)
|
rs113298164
|
0.00299
|
|
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln)
|
rs141246107
|
0.00299
|
|
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln)
|
rs150418024
|
0.00299
|
|
NM_002615.7(SERPINF1):c.85-14C>T
|
rs200755661
|
0.00299
|
|
NM_207352.4(CYP4V2):c.610G>A (p.Ala204Thr)
|
rs61745524
|
0.00299
|
|
NM_000540.3(RYR1):c.12869C>T (p.Ala4290Val)
|
rs755065800
|
0.00298
|
|
NM_004525.3(LRP2):c.10937G>A (p.Arg3646His)
|
rs142549310
|
0.00298
|
|
NM_014467.3(SRPX2):c.460C>G (p.His154Asp)
|
rs73636611
|
0.00298
|
|
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val)
|
rs55907433
|
0.00297
|
|
NM_000431.4(MVK):c.226+4A>G
|
rs145732290
|
0.00297
|
|
NM_000505.3(F12):c.-57G>C
|
rs41309132
|
0.00297
|
|
NM_003238.6(TGFB2):c.272G>A (p.Arg91His)
|
rs10482721
|
0.00297
|
|
NM_005559.4(LAMA1):c.5302G>A (p.Val1768Met)
|
rs73938527
|
0.00297
|
|
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly)
|
rs181639116
|
0.00297
|
|
NM_024537.4(CARS2):c.1632C>A (p.Ser544Arg)
|
rs141184379
|
0.00297
|
|
NM_000528.4(MAN2B1):c.844C>T (p.Pro282Ser)
|
rs45576136
|
0.00296
|
|
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala)
|
rs58806616
|
0.00296
|
|
NM_153614.4(DNAJB13):c.671G>A (p.Arg224His)
|
rs147921001
|
0.00296
|
|
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=)
|
rs28897724
|
0.00295
|
|
NM_000128.4(F11):c.1304+12G>A
|
rs116667976
|
0.00295
|
|
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys)
|
rs192376005
|
0.00295
|
|
NM_002691.4(POLD1):c.778A>G (p.Ile260Val)
|
rs8105725
|
0.00295
|
|
NM_004364.5(CEBPA):c.402G>A (p.Ala134=)
|
rs752254340
|
0.00295
|
|
NM_014639.4(SKIC3):c.1765G>A (p.Ala589Thr)
|
rs147622709
|
0.00295
|
|
NM_020964.3(EPG5):c.2063T>C (p.Phe688Ser)
|
rs61978576
|
0.00295
|
|
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His)
|
rs147390654
|
0.00294
|
|
NM_000487.6(ARSA):c.466-7G>C
|
rs6151414
|
0.00294
|
|
NM_015404.4(WHRN):c.1365T>C (p.Ser455=)
|
rs111033459
|
0.00294
|
|
NM_000053.4(ATP7B):c.2355+13T>G
|
rs139211339
|
0.00293
|
|
NM_001365276.2(TNXB):c.11539G>A (p.Gly3847Ser)
|
rs199688928
|
0.00293
|
|
NM_002296.4(LBR):c.995C>T (p.Ala332Val)
|
rs141647564
|
0.00293
|
|
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=)
|
rs28903094
|
0.00293
|
|
NM_006231.4(POLE):c.16G>C (p.Gly6Arg)
|
rs202220778
|
0.00293
|
|
NM_213599.3(ANO5):c.259G>A (p.Val87Ile)
|
rs34994927
|
0.00293
|
|
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn)
|
rs2219594
|
0.00292
|
|
NM_000152.5(GAA):c.917C>T (p.Ser306Leu)
|
rs138097673
|
0.00292
|
|
NM_001098816.3(TENM4):c.1453C>T (p.Pro485Ser)
|
rs191549326
|
0.00292
|
|
NM_006059.4(LAMC3):c.2517G>A (p.Thr839=)
|
rs140540789
|
0.00292
|
|
NM_014252.4(SLC25A15):c.182G>A (p.Arg61His)
|
rs34615430
|
0.00292
|
|
NM_014363.6(SACS):c.3129A>G (p.Ser1043=)
|
rs148878361
|
0.00292
|
|
NM_016953.4(PDE11A):c.919C>T (p.Arg307Ter)
|
rs76308115
|
0.00292
|
|
NM_020987.5(ANK3):c.5582C>T (p.Thr1861Met)
|
rs117475706
|
0.00292
|
|
NM_000282.4(PCCA):c.231+15C>T
|
rs202049874
|
0.00291
|
|
NM_001370466.1(NOD2):c.485C>T (p.Thr162Met)
|
rs61755182
|
0.00291
|
|
NM_001458.5(FLNC):c.8003T>C (p.Met2668Thr)
|
rs200502811
|
0.00291
|
|
NM_001982.4(ERBB3):c.3529C>A (p.Leu1177Ile)
|
rs55699040
|
0.00291
|
|
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)
|
rs72552293
|
0.00291
|
|
NM_000059.4(BRCA2):c.7805+6C>G
|
rs81002819
|
0.00290
|
|
NM_000195.5(HPS1):c.478C>T (p.Arg160Trp)
|
rs142893758
|
0.00290
|
|
NM_000780.4(CYP7A1):c.1192C>G (p.Pro398Ala)
|
rs142708991
|
0.00290
|
|
NM_001010892.3(RSPH4A):c.675G>T (p.Ser225=)
|
rs79327004
|
0.00290
|
|
NM_001374623.1(PNPLA1):c.383C>T (p.Thr128Met)
|
rs140585347
|
0.00290
|
|
NM_001378778.1(MPDZ):c.4220A>G (p.Tyr1407Cys)
|
rs200891478
|
0.00290
|
|
NM_001394062.1(MACF1):c.22506T>G (p.Phe7502Leu)
|
rs138819868
|
0.00290
|
|
NM_001558.4(IL10RA):c.67+8T>C
|
rs200992970
|
0.00290
|
|
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn)
|
rs41302885
|
0.00290
|
|
NM_001136193.2(FASTKD2):c.149A>G (p.Lys50Arg)
|
rs141447598
|
0.00289
|
|
NM_003227.4(TFR2):c.1473G>A (p.Glu491=)
|
rs139178017
|
0.00289
|
|
NM_006031.6(PCNT):c.6933C>T (p.Val2311=)
|
rs148444313
|
0.00289
|
|
NM_015175.3(NBEAL2):c.6866G>A (p.Arg2289Gln)
|
rs181413143
|
0.00289
|
|
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys)
|
rs11571657
|
0.00288
|
|
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile)
|
rs202014478
|
0.00288
|
|
NM_022436.3(ABCG5):c.1763-7T>G
|
rs114780578
|
0.00288
|
|
NM_000341.4(SLC3A1):c.566C>T (p.Thr189Met)
|
rs140317484
|
0.00287
|
|
NM_001199138.2(NLRC4):c.2357G>T (p.Gly786Val)
|
rs149451729
|
0.00287
|
|
NM_005045.4(RELN):c.3651C>G (p.Ile1217Met)
|
rs56342240
|
0.00287
|
|
NM_007055.4(POLR3A):c.927C>T (p.Asp309=)
|
rs41274610
|
0.00287
|
|
NM_018139.3(DNAAF2):c.1953A>G (p.Pro651=)
|
rs34352773
|
0.00287
|
|
NM_021098.3(CACNA1H):c.4039-4G>A
|
rs57315342
|
0.00287
|
|
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile)
|
rs148932323
|
0.00287
|
|
NM_000939.4(POMC):c.706C>G (p.Arg236Gly)
|
rs28932472
|
0.00286
|
|
NM_003803.4(MYOM1):c.2384+4A>T
|
rs73373171
|
0.00286
|
|
NM_006883.2(SHOX):c.676T>C (p.Ter226Arg)
|
rs778160013
|
0.00286
|
|
NM_017757.3(ZNF407):c.1991G>T (p.Ser664Ile)
|
rs149806516
|
0.00286
|
|
NM_147127.5(EVC2):c.122C>A (p.Pro41His)
|
rs544397395
|
0.00286
|
|
NM_198525.3(KIF7):c.1220C>A (p.Ala407Asp)
|
rs587780375
|
0.00286
|
|
NM_000208.4(INSR):c.2355G>A (p.Ser785=)
|
rs148137322
|
0.00285
|
|
NM_000452.3(SLC10A2):c.910T>C (p.Phe304Leu)
|
rs61966074
|
0.00285
|
|
NM_001114134.2(EPB42):c.1279C>T (p.Arg427Cys)
|
rs45594632
|
0.00285
|
|
NM_001199862.2(KCNAB2):c.1183A>G (p.Ile395Val)
|
rs146277144
|
0.00285
|
|
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met)
|
rs61754061
|
0.00285
|
|
NM_025074.7(FRAS1):c.6584A>G (p.Glu2195Gly)
|
rs10029227
|
0.00285
|
|
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)
|
rs142787001
|
0.00284
|
|
NM_001160372.4(TRAPPC9):c.588T>C (p.His196=)
|
rs61736350
|
0.00284
|
|
NM_005215.4(DCC):c.2105A>G (p.Asn702Ser)
|
rs35691189
|
0.00284
|
|
NM_016341.4(PLCE1):c.2728G>A (p.Val910Ile)
|
rs61751497
|
0.00284
|
|
NM_018136.5(ASPM):c.3599-4A>G
|
rs149303254
|
0.00284
|
|
NM_022916.6(VPS33A):c.1318C>T (p.His440Tyr)
|
rs143287106
|
0.00284
|
|
NM_198576.4(AGRN):c.4639G>A (p.Glu1547Lys)
|
rs2799068
|
0.00284
|
|
NM_000518.5(HBB):c.*96T>C
|
rs34029390
|
0.00283
|
|
NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys)
|
rs189476639
|
0.00283
|
|
NM_012179.4(FBXO7):c.693C>T (p.Ser231=)
|
rs61752254
|
0.00283
|
|
NM_016363.5(GP6):c.307C>G (p.Leu103Val)
|
rs28969501
|
0.00283
|
|
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)
|
rs60986317
|
0.00282
|
|
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg)
|
rs137933390
|
0.00282
|
|
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val)
|
rs141641266
|
0.00282
|
|
NM_000552.5(VWF):c.4457C>T (p.Ser1486Leu)
|
rs149424724
|
0.00282
|
|
NM_000593.6(TAP1):c.1547C>T (p.Pro516Leu)
|
rs2228106
|
0.00282
|
|
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val)
|
rs144908351
|
0.00282
|
|
NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys)
|
rs116524991
|
0.00282
|
|
NM_007078.3(LDB3):c.-23-32C>A
|
rs34972863
|
0.00282
|
|
NM_015702.3(MMADHC):c.-8C>T
|
rs180812156
|
0.00282
|
|
NM_018341.3(ERMARD):c.1162A>G (p.Asn388Asp)
|
rs151283330
|
0.00282
|
|
NM_020312.4(COQ9):c.835G>A (p.Asp279Asn)
|
rs76508383
|
0.00282
|
|
NM_022436.3(ABCG5):c.80G>C (p.Gly27Ala)
|
rs56204478
|
0.00282
|
|
NM_001128228.3(TPRN):c.470C>G (p.Pro157Arg)
|
rs914939520
|
0.00281
|
|
NM_001909.5(CTSD):c.912G>A (p.Pro304=)
|
rs140238987
|
0.00281
|
|
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu)
|
rs2229073
|
0.00281
|
|
NM_000081.4(LYST):c.7870C>T (p.Arg2624Trp)
|
rs150306354
|
0.00280
|
|
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn)
|
rs145343957
|
0.00280
|
|
NM_016239.4(MYO15A):c.4888C>T (p.Arg1630Cys)
|
rs138861831
|
0.00280
|
|
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe)
|
rs186745328
|
0.00280
|
|
NM_020751.3(COG6):c.358A>G (p.Ser120Gly)
|
rs139313781
|
0.00280
|
|
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser)
|
rs147551003
|
0.00280
|
|
NM_000426.4(LAMA2):c.5633C>T (p.Ser1878Phe)
|
rs139586720
|
0.00279
|
|
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala)
|
rs71524349
|
0.00279
|
|
NM_020366.4(RPGRIP1):c.218+13C>G
|
rs200225522
|
0.00279
|
|
NM_020533.3(MCOLN1):c.16G>T (p.Gly6Cys)
|
rs61736595
|
0.00279
|
|
NM_020839.4(WDR48):c.280T>G (p.Ser94Ala)
|
rs148407227
|
0.00279
|
|
NM_000057.4(BLM):c.1928G>A (p.Arg643His)
|
rs12720097
|
0.00278
|
|
NM_000170.3(GLDC):c.2053-5C>G
|
rs140877566
|
0.00278
|
|
NM_001005498.4(RHBDF2):c.1396C>T (p.Arg466Trp)
|
rs143503813
|
0.00278
|
|
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val)
|
rs182650126
|
0.00278
|
|
NM_001369.3(DNAH5):c.299G>C (p.Gly100Ala)
|
rs144236383
|
0.00278
|
|
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=)
|
rs141423593
|
0.00278
|
|
NM_000059.4(BRCA2):c.68-7T>A
|
rs81002830
|
0.00277
|
|
NM_000419.5(ITGA2B):c.1627C>T (p.Arg543Trp)
|
rs143967758
|
0.00277
|
|
NM_001201543.2(FAM161A):c.354G>T (p.Gln118His)
|
rs140622968
|
0.00277
|
|
NM_003793.4(CTSF):c.676C>T (p.Arg226Cys)
|
rs143313688
|
0.00277
|
|
NM_004563.4(PCK2):c.1756G>A (p.Gly586Ser)
|
rs61737098
|
0.00277
|
|
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val)
|
rs55791823
|
0.00277
|
|
NM_006087.4(TUBB4A):c.915G>A (p.Pro305=)
|
rs149903666
|
0.00277
|
|
NM_018249.6(CDK5RAP2):c.5355G>A (p.Thr1785=)
|
rs145402135
|
0.00277
|
|
NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys)
|
rs34702903
|
0.00276
|
|
NM_000152.5(GAA):c.1552-13G>A
|
rs111261964
|
0.00276
|
|
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln)
|
rs62646862
|
0.00276
|
|
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg)
|
rs78488552
|
0.00276
|
|
NM_001365088.1(SLC12A6):c.271+17825C>T
|
rs150751809
|
0.00276
|
|
NM_004727.3(SLC24A1):c.1859C>T (p.Ala620Val)
|
rs35398714
|
0.00276
|
|
NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys)
|
rs116920018
|
0.00276
|
|
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)
|
rs1800365
|
0.00275
|
|
NM_005141.5(FGB):c.794C>T (p.Pro265Leu)
|
rs6054
|
0.00275
|
|
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr)
|
rs140963213
|
0.00275
|
|
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser)
|
rs187546086
|
0.00275
|
|
NM_000686.5(AGTR2):c.62G>T (p.Gly21Val)
|
rs121917810
|
0.00274
|
|
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln)
|
rs148525155
|
0.00274
|
|
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val)
|
rs72648994
|
0.00274
|
|
NM_005199.5(CHRNG):c.714G>T (p.Gln238His)
|
rs17838626
|
0.00274
|
|
NM_006343.3(MERTK):c.2593C>T (p.Arg865Trp)
|
rs2230516
|
0.00274
|
|
NM_020631.6(PLEKHG5):c.88C>T (p.Arg30Cys)
|
rs111400494
|
0.00274
|
|
NM_207361.6(FREM2):c.2128C>T (p.Arg710Cys)
|
rs41292753
|
0.00274
|
|
NM_000301.5(PLG):c.782G>A (p.Arg261His)
|
rs4252187
|
0.00273
|
|
NM_001142800.2(EYS):c.5629C>T (p.Arg1877Trp)
|
rs139822086
|
0.00273
|
|
NM_001194998.2(CEP152):c.5115A>G (p.Pro1705=)
|
rs1048042
|
0.00273
|
|
NM_003619.4(PRSS12):c.523G>A (p.Gly175Ser)
|
rs145151396
|
0.00273
|
|
NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=)
|
rs145720664
|
0.00273
|
|
NM_004817.4(TJP2):c.2636A>G (p.Gln879Arg)
|
rs75450131
|
0.00273
|
|
NM_012208.4(HARS2):c.7C>G (p.Leu3Val)
|
rs186043734
|
0.00273
|
|
NM_000213.5(ITGB4):c.2701C>T (p.Leu901Phe)
|
rs145644205
|
0.00272
|
|
NM_000277.3(PAH):c.772C>T (p.Leu258=)
|
rs75065106
|
0.00272
|
|
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys)
|
rs58241708
|
0.00272
|
|
NM_003465.3(CHIT1):c.585C>T (p.Tyr195=)
|
rs114168492
|
0.00272
|
|
NM_025074.7(FRAS1):c.11907C>G (p.His3969Gln)
|
rs140492803
|
0.00272
|
|
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr)
|
rs35648932
|
0.00272
|
|
NM_001177316.2(SLC34A3):c.1149C>T (p.Ala383=)
|
rs199536442
|
0.00271
|
|
NM_001395413.1(POR):c.674C>T (p.Pro225Leu)
|
rs17853284
|
0.00271
|
|
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=)
|
rs138198461
|
0.00271
|
|
NM_032043.3(BRIP1):c.2097+7G>A
|
rs4988352
|
0.00271
|
|
NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val)
|
rs186999408
|
0.00271
|
|
NM_181078.3(IL21R):c.1033G>A (p.Gly345Ser)
|
rs56148525
|
0.00271
|
|
NM_000107.3(DDB2):c.1228G>A (p.Ala410Thr)
|
rs143049891
|
0.00270
|
|
NM_000278.5(PAX2):c.360C>T (p.Ala120=)
|
rs41291450
|
0.00270
|
|
NM_000352.6(ABCC8):c.-8G>T
|
rs200091822
|
0.00270
|
|
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe)
|
rs142838522
|
0.00270
|
|
NM_001384317.1(ZHX3):c.2249A>T (p.Asp750Val)
|
rs147861291
|
0.00270
|
|
NM_002206.3(ITGA7):c.2569G>A (p.Gly857Ser)
|
rs149081471
|
0.00270
|
|
NM_002439.5(MSH3):c.2511G>A (p.Leu837=)
|
rs149628160
|
0.00270
|
|
NM_004319.3(ASTN1):c.3283A>C (p.Met1095Leu)
|
rs151246825
|
0.00270
|
|
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala)
|
rs35238405
|
0.00270
|
|
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg)
|
rs146165014
|
0.00270
|
|
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe)
|
rs28390202
|
0.00270
|
|
NM_020442.6(VARS2):c.2293G>A (p.Val765Met)
|
rs55865499
|
0.00270
|
|
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser)
|
rs140824939
|
0.00270
|
|
NM_032782.5(HAVCR2):c.291A>G (p.Ile97Met)
|
rs35960726
|
0.00270
|
|
NM_152641.4(ARID2):c.1718C>T (p.Thr573Met)
|
rs76994389
|
0.00270
|
|
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys)
|
rs147689373
|
0.00269
|
|
NM_001457.4(FLNB):c.362A>T (p.Tyr121Phe)
|
rs147846832
|
0.00269
|
|
NM_003737.4(DCHS1):c.4072G>A (p.Glu1358Lys)
|
rs184586428
|
0.00269
|
|
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=)
|
rs139180845
|
0.00269
|
|
NM_015072.5(TTLL5):c.2891G>A (p.Arg964Gln)
|
rs142169707
|
0.00269
|
|
NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe)
|
rs148663672
|
0.00269
|
|
NM_182919.4(TICAM1):c.1702G>A (p.Ala568Thr)
|
rs143679494
|
0.00269
|
|
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys)
|
rs1799954
|
0.00268
|
|
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe)
|
rs34226296
|
0.00268
|
|
NM_001159773.2(CANT1):c.1172G>A (p.Gly391Glu)
|
rs34082669
|
0.00268
|
|
NM_015275.3(WASHC4):c.2162G>A (p.Arg721His)
|
rs74426960
|
0.00268
|
|
NM_015909.4(NBAS):c.4822A>G (p.Met1608Val)
|
rs140868609
|
0.00268
|
|
NM_194248.3(OTOF):c.2215-80T>C
|
rs143141993
|
0.00268
|
|
NM_000094.4(COL7A1):c.5259C>T (p.Pro1753=)
|
rs151261530
|
0.00267
|
|
NM_000218.3(KCNQ1):c.-5T>C
|
rs532941548
|
0.00267
|
|
NM_000314.8(PTEN):c.-165C>G
|
rs575260016
|
0.00267
|
|
NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu)
|
rs72653095
|
0.00267
|
|
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile)
|
rs188807564
|
0.00267
|
|
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln)
|
rs41282065
|
0.00267
|
|
NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser)
|
rs76440173
|
0.00267
|
|
NM_024649.5(BBS1):c.24T>C (p.Asp8=)
|
rs55848325
|
0.00267
|
|
NM_001358530.2(MOCS1):c.124-69G>A
|
rs45487695
|
0.00266
|
|
NM_016302.4(CRBN):c.88G>A (p.Glu30Lys)
|
rs78564552
|
0.00266
|
|
NM_020361.5(CPA6):c.1237C>T (p.Leu413Phe)
|
rs142597675
|
0.00266
|
|
NM_022132.5(MCCC2):c.1439A>G (p.Asn480Ser)
|
rs115328026
|
0.00266
|
|
NM_198578.4(LRRK2):c.1000G>A (p.Glu334Lys)
|
rs78501232
|
0.00266
|
|
NM_001378615.1(CC2D2A):c.4459C>T (p.Arg1487Cys)
|
rs186486235
|
0.00265
|
|
NM_198576.4(AGRN):c.800C>T (p.Thr267Met)
|
rs566673314
|
0.00265
|
|
NM_000343.4(SLC5A1):c.625G>T (p.Val209Leu)
|
rs150117594
|
0.00264
|
|
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser)
|
rs45517419
|
0.00264
|
|
NM_001098484.3(SLC4A4):c.1805A>G (p.Lys602Arg)
|
rs72650362
|
0.00264
|
|
NM_020461.4(TUBGCP6):c.3382A>C (p.Arg1128=)
|
rs1266725037
|
0.00264
|
|
NM_194454.3(KRIT1):c.2044A>C (p.Lys682Gln)
|
rs138763545
|
0.00264
|
|
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg)
|
rs201342438
|
0.00263
|
|
NM_001384910.1(GUCA1A):c.205G>T (p.Gly69Cys)
|
rs146354667
|
0.00263
|
|
NM_020921.4(NIN):c.2041G>A (p.Gly681Arg)
|
rs142733791
|
0.00263
|
|
NM_201384.3(PLEC):c.9718G>A (p.Glu3240Lys)
|
rs75857070
|
0.00263
|
|
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys)
|
rs6161
|
0.00262
|
|
NM_001126049.2(KLLN):c.-898G>A
|
rs538728843
|
0.00262
|
|
NM_003105.6(SORL1):c.5448T>C (p.Tyr1816=)
|
rs150315143
|
0.00262
|
|
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn)
|
rs140806722
|
0.00262
|
|
NM_144573.4(NEXN):c.995A>C (p.Glu332Ala)
|
rs201763096
|
0.00262
|
|
NM_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=)
|
rs34338935
|
0.00261
|
|
NM_004168.4(SDHA):c.146A>G (p.Asp49Gly)
|
rs80207011
|
0.00261
|
|
NM_005562.3(LAMC2):c.493C>T (p.Arg165Cys)
|
rs142335339
|
0.00261
|
|
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala)
|
rs146519878
|
0.00261
|
|
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His)
|
rs35029074
|
0.00260
|
|
NM_000433.4(NCF2):c.563G>A (p.Arg188Lys)
|
rs115365142
|
0.00260
|
|
NM_001371623.1(TCOF1):c.295G>A (p.Ala99Thr)
|
rs112332762
|
0.00260
|
|
NM_013435.3(RAX):c.197G>C (p.Arg66Thr)
|
rs536765190
|
0.00260
|
|
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala)
|
rs61752327
|
0.00260
|
|
NM_000431.4(MVK):c.238G>A (p.Val80Ile)
|
rs76914224
|
0.00259
|
|
NM_006514.4(SCN10A):c.3803G>A (p.Arg1268Gln)
|
rs138832868
|
0.00259
|
|
NM_013372.7(GREM1):c.103C>G (p.Pro35Ala)
|
rs111262341
|
0.00259
|
|
NM_001123385.2(BCOR):c.408C>T (p.Ala136=)
|
rs139802143
|
0.00258
|
|
NM_001134831.2(AHI1):c.-140+1G>T
|
rs145372075
|
0.00258
|
|
NM_006059.4(LAMC3):c.4160C>T (p.Ala1387Val)
|
rs141497885
|
0.00258
|
|
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00257
|
|
NM_000233.4(LHCGR):c.458+3A>G
|
rs76210637
|
0.00257
|
|
NM_000391.4(TPP1):c.840G>C (p.Leu280=)
|
rs140349036
|
0.00257
|
|
NM_000517.6(HBA2):c.300+64A>G
|
rs111264741
|
0.00257
|
|
NM_001164508.2(NEB):c.10744G>A (p.Val3582Ile)
|
rs139798654
|
0.00257
|
|
NM_002168.4(IDH2):c.327G>A (p.Val109=)
|
rs150943639
|
0.00257
|
|
NM_002303.6(LEPR):c.3417A>G (p.Ala1139=)
|
rs61781316
|
0.00257
|
|
NM_005562.3(LAMC2):c.1899G>C (p.Leu633=)
|
rs141812464
|
0.00257
|
|
NM_014806.5(RUSC2):c.1418C>T (p.Pro473Leu)
|
rs61740253
|
0.00257
|
|
NM_000542.5(SFTPB):c.403G>A (p.Gly135Ser)
|
rs35373464
|
0.00256
|
|
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser)
|
rs138824667
|
0.00256
|
|
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val)
|
rs191830054
|
0.00256
|
|
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)
|
rs117687681
|
0.00255
|
|
NM_000361.3(THBD):c.127G>A (p.Ala43Thr)
|
rs1800576
|
0.00255
|
|
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile)
|
rs146102241
|
0.00255
|
|
NM_001136046.3(ZMYND15):c.2015G>A (p.Arg672His)
|
rs148980412
|
0.00255
|
|
NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met)
|
rs375045076
|
0.00255
|
|
NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr)
|
rs202233363
|
0.00255
|
|
NM_005384.3(NFIL3):c.510G>A (p.Met170Ile)
|
rs142259863
|
0.00255
|
|
NM_005592.4(MUSK):c.1931T>C (p.Val644Ala)
|
rs41279055
|
0.00255
|
|
NM_014874.4(MFN2):c.1403G>A (p.Arg468His)
|
rs138382758
|
0.00255
|
|
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp)
|
rs41307461
|
0.00255
|
|
NM_144988.4(ALG14):c.113G>T (p.Ser38Ile)
|
rs139521179
|
0.00255
|
|
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=)
|
rs79125791
|
0.00254
|
|
NM_006080.3(SEMA3A):c.458A>G (p.Asn153Ser)
|
rs139295139
|
0.00254
|
|
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys)
|
rs34625968
|
0.00253
|
|
NM_000392.5(ABCC2):c.1032-3C>T
|
rs139800035
|
0.00253
|
|
NM_001081.4(CUBN):c.2656G>A (p.Glu886Lys)
|
rs138545198
|
0.00253
|
|
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly)
|
rs72648273
|
0.00253
|
|
NM_001369.3(DNAH5):c.7752+10T>C
|
rs149460805
|
0.00253
|
|
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe)
|
rs104895500
|
0.00253
|
|
NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp)
|
rs1872267
|
0.00253
|
|
NM_032208.3(ANTXR1):c.1553C>T (p.Ala518Val)
|
rs139807657
|
0.00253
|
|
NM_000081.4(LYST):c.2363+4T>C
|
rs201398337
|
0.00252
|
|
NM_000152.5(GAA):c.2481+16G>A
|
rs41292408
|
0.00252
|
|
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe)
|
rs150821281
|
0.00252
|
|
NM_001040142.2(SCN2A):c.2955C>T (p.Ser985=)
|
rs149859004
|
0.00252
|
|
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala)
|
rs147356378
|
0.00252
|
|
NM_007294.4(BRCA1):c.4987-20A>G
|
rs80358035
|
0.00252
|
|
NM_015046.7(SETX):c.*254C>T
|
rs11545230
|
0.00252
|
|
NM_022370.4(ROBO3):c.1838C>T (p.Thr613Ile)
|
rs200202857
|
0.00252
|
|
NM_025074.7(FRAS1):c.2861C>T (p.Thr954Met)
|
rs17003166
|
0.00252
|
|
NM_000035.4(ALDOB):c.799+6G>A
|
rs141888548
|
0.00251
|
|
NM_000552.5(VWF):c.1596C>T (p.Gly532=)
|
rs111240043
|
0.00251
|
|
NM_000562.3(C8A):c.385G>A (p.Asp129Asn)
|
rs150404785
|
0.00251
|
|
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu)
|
rs57932685
|
0.00251
|
|
NM_007315.4(STAT1):c.796G>A (p.Val266Ile)
|
rs41473544
|
0.00251
|
|
NM_017662.5(TRPM6):c.1421G>A (p.Arg474Gln)
|
rs142043309
|
0.00251
|
|
NM_198239.2(CCN6):c.310G>C (p.Val104Leu)
|
rs78266262
|
0.00251
|
|
NM_000064.4(C3):c.463A>C (p.Lys155Gln)
|
rs147859257
|
0.00250
|
|
NM_000101.4(CYBA):c.226G>A (p.Val76Met)
|
rs149344911
|
0.00250
|
|
NM_000243.3(MEFV):c.97G>T (p.Val33Leu)
|
rs11466016
|
0.00250
|
|
NM_003114.5(SPAG1):c.1226C>G (p.Thr409Ser)
|
rs544372581
|
0.00250
|
|
NM_006371.5(CRTAP):c.1039C>T (p.Leu347Phe)
|
rs115198029
|
0.00250
|
|
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile)
|
rs150576537
|
0.00250
|
|
NM_031885.5(BBS2):c.1422G>A (p.Ser474=)
|
rs117033008
|
0.00250
|
|
NM_000260.4(MYO7A):c.1554+8G>A
|
rs111033227
|
0.00249
|
|
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser)
|
rs72552027
|
0.00249
|
|
NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His)
|
rs199612744
|
0.00249
|
|
NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln)
|
rs113591604
|
0.00249
|
|
NM_014339.7(IL17RA):c.1174G>T (p.Val392Leu)
|
rs146478431
|
0.00249
|
|
NM_018993.4(RIN2):c.1141C>T (p.Arg381Trp)
|
rs199954296
|
0.00249
|
|
NM_000153.4(GALC):c.997G>A (p.Gly333Arg)
|
rs190921137
|
0.00248
|
|
NM_000276.4(OCRL):c.439+3A>G
|
rs61752971
|
0.00248
|
|
NM_001191061.2(SLC25A22):c.500G>A (p.Arg167Gln)
|
rs201089795
|
0.00248
|
|
NM_001360.3(DHCR7):c.399C>T (p.Ala133=)
|
rs147424205
|
0.00248
|
|
NM_002615.7(SERPINF1):c.202G>C (p.Val68Leu)
|
rs143827025
|
0.00248
|
|
NM_004525.3(LRP2):c.1973A>G (p.Tyr658Cys)
|
rs111360923
|
0.00248
|
|
NM_017763.6(RNF43):c.1010G>A (p.Arg337Gln)
|
rs138844366
|
0.00248
|
|
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn)
|
rs111033369
|
0.00248
|
|
NM_025009.5(CEP135):c.3265T>A (p.Leu1089Ile)
|
rs76659072
|
0.00248
|
|
NM_032806.6(POMGNT2):c.450A>G (p.Pro150=)
|
rs142190930
|
0.00248
|
|
NM_000444.6(PHEX):c.1344C>T (p.Asp448=)
|
rs144911719
|
0.00247
|
|
NM_000505.4(F12):c.418C>G (p.Leu140Val)
|
rs35515200
|
0.00247
|
|
NM_000939.4(POMC):c.583G>A (p.Ala195Thr)
|
rs141309351
|
0.00247
|
|
NM_001457.4(FLNB):c.1559C>T (p.Pro520Leu)
|
rs138220431
|
0.00247
|
|
NM_020631.6(PLEKHG5):c.928G>A (p.Asp310Asn)
|
rs61730399
|
0.00247
|
|
NM_032273.4(TMEM126A):c.314G>A (p.Arg105Gln)
|
rs146573578
|
0.00247
|
|
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=)
|
rs116302615
|
0.00246
|
|
NM_015346.4(ZFYVE26):c.4854C>T (p.Leu1618=)
|
rs151287975
|
0.00246
|
|
NM_173651.4(FSIP2):c.9739A>G (p.Arg3247Gly)
|
rs142306380
|
0.00246
|
|
NM_000098.3(CPT2):c.1806T>C (p.Phe602=)
|
rs147953465
|
0.00245
|
|
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys)
|
rs148352371
|
0.00245
|
|
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys)
|
rs72648981
|
0.00245
|
|
NM_001365088.1(SLC12A6):c.3042+8A>G
|
rs186141509
|
0.00245
|
|
NM_002863.5(PYGL):c.611A>G (p.Tyr204Cys)
|
rs34096980
|
0.00245
|
|
NM_004168.4(SDHA):c.1523C>T (p.Thr508Ile)
|
rs151266052
|
0.00245
|
|
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val)
|
rs140067659
|
0.00245
|
|
NM_017950.4(CCDC40):c.334A>G (p.Thr112Ala)
|
rs201709592
|
0.00245
|
|
NM_020812.4(DOCK6):c.3752G>A (p.Arg1251Gln)
|
rs200390354
|
0.00245
|
|
NM_020964.3(EPG5):c.2998A>G (p.Met1000Val)
|
rs144334723
|
0.00245
|
|
NM_144508.5(KNL1):c.1233G>C (p.Met411Ile)
|
rs116093409
|
0.00245
|
|
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)
|
rs148584617
|
0.00244
|
|
NM_001349.4(DARS1):c.590G>A (p.Arg197His)
|
rs141522501
|
0.00244
|
|
NM_005529.7(HSPG2):c.2462C>T (p.Ala821Val)
|
rs141901178
|
0.00244
|
|
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val)
|
rs35550482
|
0.00244
|
|
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser)
|
rs146197239
|
0.00244
|
|
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn)
|
rs138480801
|
0.00244
|
|
NM_000204.5(CFI):c.1322A>G (p.Lys441Arg)
|
rs41278047
|
0.00243
|
|
NM_000255.4(MMUT):c.205A>G (p.Ile69Val)
|
rs115923556
|
0.00243
|
|
NM_000350.3(ABCA4):c.1653G>A (p.Val551=)
|
rs61753963
|
0.00243
|
|
NM_001005361.3(DNM2):c.190G>A (p.Val64Ile)
|
rs144250390
|
0.00243
|
|
NM_003072.5(SMARCA4):c.2275-3C>A
|
rs117611401
|
0.00243
|
|
NM_020937.4(FANCM):c.1040C>T (p.Pro347Leu)
|
rs151071546
|
0.00243
|
|
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn)
|
rs148777544
|
0.00243
|
|
NM_000096.4(CP):c.1430C>T (p.Pro477Leu)
|
rs35331711
|
0.00242
|
|
NM_000540.3(RYR1):c.14130-8C>G
|
rs140808099
|
0.00242
|
|
NM_001089.3(ABCA3):c.2309C>T (p.Pro770Leu)
|
rs143929832
|
0.00242
|
|
NM_001291303.3(FAT4):c.5987A>G (p.Lys1996Arg)
|
rs140055438
|
0.00242
|
|
NM_001292063.2(OTOG):c.7867G>A (p.Asp2623Asn)
|
rs183470913
|
0.00242
|
|
NM_001852.4(COL9A2):c.1982C>T (p.Pro661Leu)
|
rs150687987
|
0.00242
|
|
NM_005027.4(PIK3R2):c.160G>A (p.Val54Met)
|
rs201370957
|
0.00242
|
|
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu)
|
rs137852776
|
0.00242
|
|
NM_000543.5(SMPD1):c.441G>A (p.Val147=)
|
rs148944108
|
0.00241
|
|
NM_002234.4(KCNA5):c.919C>T (p.Pro307Ser)
|
rs17215409
|
0.00241
|
|
NM_002838.5(PTPRC):c.1568A>T (p.Glu523Val)
|
rs116464756
|
0.00241
|
|
NM_025074.7(FRAS1):c.7033G>A (p.Glu2345Lys)
|
rs56291926
|
0.00241
|
|
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)
|
rs182369459
|
0.00241
|
|
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=)
|
rs181573957
|
0.00240
|
|
NM_001035.3(RYR2):c.4068C>T (p.Pro1356=)
|
rs199821105
|
0.00240
|
|
NM_001270891.2(TRAPPC6A):c.277T>A (p.Tyr93Asn)
|
rs142501705
|
0.00240
|
|
NM_002435.3(MPI):c.303C>T (p.Leu101=)
|
rs139228075
|
0.00240
|
|
NM_003041.4(SLC5A2):c.1297A>G (p.Ile433Val)
|
rs150546732
|
0.00240
|
|
NM_003235.5(TG):c.6200-7T>A
|
rs79724982
|
0.00240
|
|
NM_005876.5(SPEG):c.6076C>G (p.Arg2026Gly)
|
rs531879999
|
0.00240
|
|
NM_006231.4(POLE):c.4184A>G (p.Tyr1395Cys)
|
rs5744933
|
0.00240
|
|
NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=)
|
rs145896974
|
0.00240
|
|
NM_024782.3(NHEJ1):c.258C>T (p.Asp86=)
|
rs113689741
|
0.00240
|
|
NM_133379.5(TTN):c.13948C>T (p.Pro4650Ser)
|
rs149748934
|
0.00240
|
|
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys)
|
rs35689779
|
0.00239
|
|
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg)
|
rs113106943
|
0.00239
|
|
NM_001293298.2(CEMIP):c.3397G>A (p.Glu1133Lys)
|
rs151273972
|
0.00239
|
|
NM_004444.5(EPHB4):c.1144G>A (p.Gly382Ser)
|
rs114926839
|
0.00239
|
|
NM_006904.7(PRKDC):c.422C>G (p.Ser141Cys)
|
rs201231274
|
0.00239
|
|
NM_000240.4(MAOA):c.825G>A (p.Pro275=)
|
rs138703731
|
0.00238
|
|
NM_001164508.2(NEB):c.9155G>A (p.Arg3052Gln)
|
rs201176993
|
0.00238
|
|
NM_003383.5(VLDLR):c.982A>G (p.Ser328Gly)
|
rs116306908
|
0.00238
|
|
NM_006580.3(CLDN16):c.-3A>T
|
rs200322099
|
0.00238
|
|
NM_014908.4(DOLK):c.631C>T (p.Arg211Cys)
|
rs145310298
|
0.00238
|
|
NM_016343.4(CENPF):c.3811A>G (p.Lys1271Glu)
|
rs62000407
|
0.00238
|
|
NM_198129.4(LAMA3):c.8028C>T (p.Asn2676=)
|
rs35737354
|
0.00238
|
|
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser)
|
rs143777403
|
0.00238
|
|
NM_000129.4(F13A1):c.1777G>A (p.Gly593Ser)
|
rs138754417
|
0.00237
|
|
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg)
|
rs36099971
|
0.00237
|
|
NM_000179.3(MSH6):c.3439-16C>T
|
rs192614006
|
0.00237
|
|
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=)
|
rs112751577
|
0.00237
|
|
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu)
|
rs117843968
|
0.00237
|
|
NM_001256864.2(DNAJC6):c.1492T>A (p.Cys498Ser)
|
rs145329294
|
0.00237
|
|
NM_001384732.1(CPLANE1):c.8958+4A>C
|
rs199810663
|
0.00237
|
|
NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu)
|
rs148331180
|
0.00237
|
|
NM_022895.3(C12orf43):c.*2956C>T
|
rs112986697
|
0.00237
|
|
NM_178452.6(DNAAF1):c.1718T>C (p.Ile573Thr)
|
rs137862641
|
0.00237
|
|
NM_194248.3(OTOF):c.245G>A (p.Arg82His)
|
rs149766574
|
0.00237
|
|
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro)
|
rs41281202
|
0.00236
|
|
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn)
|
rs75671029
|
0.00236
|
|
NM_000326.5(RLBP1):c.9A>C (p.Glu3Asp)
|
rs146844731
|
0.00236
|
|
NM_000426.4(LAMA2):c.4959+6G>T
|
rs148060790
|
0.00236
|
|
NM_001065.4(TNFRSF1A):c.1110C>T (p.Arg370=)
|
rs201683984
|
0.00236
|
|
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=)
|
rs35654397
|
0.00236
|
|
NM_001377.3(DYNC2H1):c.9814T>A (p.Leu3272Ile)
|
rs200342335
|
0.00236
|
|
NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His)
|
rs41301481
|
0.00236
|
|
NM_006269.2(RP1):c.3132A>C (p.Lys1044Asn)
|
rs35234349
|
0.00236
|
|
NM_014363.6(SACS):c.10611A>G (p.Ala3537=)
|
rs137856939
|
0.00236
|
|
NM_024809.5(TCTN2):c.720C>G (p.Pro240=)
|
rs149430216
|
0.00236
|
|
NM_025074.7(FRAS1):c.11605A>G (p.Ile3869Val)
|
rs145035489
|
0.00236
|
|
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu)
|
rs139525250
|
0.00236
|
|
NM_000254.3(MTR):c.3079C>T (p.Arg1027Trp)
|
rs116836001
|
0.00235
|
|
NM_000428.3(LTBP2):c.2668G>A (p.Glu890Lys)
|
rs141783623
|
0.00235
|
|
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys)
|
rs45454496
|
0.00235
|
|
NM_001256317.3(TMPRSS3):c.1125C>T (p.Tyr375=)
|
rs111033292
|
0.00235
|
|
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=)
|
rs116985497
|
0.00235
|
|
NM_001363711.2(DUOX2):c.2950G>T (p.Ala984Ser)
|
rs138358075
|
0.00235
|
|
NM_003458.4(BSN):c.863C>T (p.Pro288Leu)
|
rs200890584
|
0.00235
|
|
NM_003982.4(SLC7A7):c.1380C>G (p.Ile460Met)
|
rs139415285
|
0.00235
|
|
NM_004168.4(SDHA):c.313-19G>T
|
rs185555941
|
0.00235
|
|
NM_005534.4(IFNGR2):c.708A>T (p.Glu236Asp)
|
rs121913212
|
0.00235
|
|
NM_006904.7(PRKDC):c.5120T>A (p.Leu1707Gln)
|
rs202110076
|
0.00235
|
|
NM_015261.3(NCAPD3):c.1981G>T (p.Asp661Tyr)
|
rs151013524
|
0.00235
|
|
NM_020921.4(NIN):c.2987C>T (p.Ala996Val)
|
rs41313507
|
0.00235
|
|
NM_024740.2(ALG9):c.815A>G (p.Tyr272Cys)
|
rs145762575
|
0.00235
|
|
NM_152783.5(D2HGDH):c.1258G>A (p.Ala420Thr)
|
rs149504235
|
0.00235
|
|
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys)
|
rs144090917
|
0.00234
|
|
NM_000394.4(CRYAA):c.154C>T (p.Leu52Phe)
|
rs146914780
|
0.00234
|
|
NM_004525.3(LRP2):c.5390A>G (p.Asn1797Ser)
|
rs138070797
|
0.00234
|
|
NM_006204.4(PDE6C):c.2037-7T>C
|
rs181296577
|
0.00234
|
|
NM_138425.4(C12orf57):c.86C>T (p.Ala29Val)
|
rs139938808
|
0.00234
|
|
NM_153676.4(USH1C):c.403G>A (p.Val135Ile)
|
rs145013633
|
0.00234
|
|
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=)
|
rs148000219
|
0.00234
|
|
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=)
|
rs537723089
|
0.00233
|
|
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)
|
rs117725825
|
0.00233
|
|
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln)
|
rs78046647
|
0.00233
|
|
NM_002291.3(LAMB1):c.476C>G (p.Thr159Ser)
|
rs140146478
|
0.00233
|
|
NM_002439.5(MSH3):c.2732T>G (p.Leu911Trp)
|
rs41545019
|
0.00233
|
|
NM_020779.4(WDR35):c.1591C>G (p.Leu531Val)
|
rs148242353
|
0.00233
|
|
NM_153603.4(COG7):c.1178A>G (p.His393Arg)
|
rs116331296
|
0.00233
|
|
NM_003999.3(OSMR):c.1307T>A (p.Val436Asp)
|
rs34324145
|
0.00232
|
|
NM_004239.4(TRIP11):c.5137G>C (p.Glu1713Gln)
|
rs137974620
|
0.00232
|
|
NM_004287.5(GOSR2):c.40G>A (p.Glu14Lys)
|
rs113817924
|
0.00232
|
|
NM_005208.5(CRYBA1):c.475G>A (p.Gly159Ser)
|
rs117757092
|
0.00232
|
|
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val)
|
rs139570786
|
0.00232
|
|
NM_020964.3(EPG5):c.3965G>A (p.Arg1322His)
|
rs148641800
|
0.00232
|
|
NM_025074.7(FRAS1):c.10594A>G (p.Ile3532Val)
|
rs144715071
|
0.00232
|
|
NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser)
|
rs11575933
|
0.00232
|
|
NM_172095.4(CATSPER2):c.920G>C (p.Trp307Ser)
|
rs146701338
|
0.00232
|
|
NM_000126.4(ETFA):c.186+7A>G
|
rs184587113
|
0.00231
|
|
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala)
|
rs112592855
|
0.00231
|
|
NM_002168.4(IDH2):c.23T>C (p.Val8Ala)
|
rs369445642
|
0.00231
|
|
NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val)
|
rs142062146
|
0.00231
|
|
NM_005045.4(RELN):c.7438G>A (p.Gly2480Ser)
|
rs150236371
|
0.00231
|
|
NM_013247.5(HTRA2):c.1195G>A (p.Gly399Ser)
|
rs72470545
|
0.00231
|
|
NM_016042.4(EXOSC3):c.193G>A (p.Val65Ile)
|
rs62640002
|
0.00231
|
|
NM_020921.4(NIN):c.2665G>C (p.Val889Leu)
|
rs78251482
|
0.00231
|
|
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=)
|
rs56329646
|
0.00231
|
|
NM_000046.5(ARSB):c.317G>A (p.Arg106His)
|
rs150087888
|
0.00230
|
|
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)
|
rs139235751
|
0.00230
|
|
NM_000465.4(BARD1):c.1977A>G (p.Arg659=)
|
rs147215925
|
0.00230
|
|
NM_000484.3(APP):c.-626C>T
|
rs139885956
|
0.00230
|
|
NM_001715.3(BLK):c.674C>T (p.Pro225Leu)
|
rs144592409
|
0.00230
|
|
NM_002335.4(LRP5):c.2124G>A (p.Ser708=)
|
rs140977837
|
0.00230
|
|
NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=)
|
rs149172723
|
0.00230
|
|
NM_012238.5(SIRT1):c.40T>C (p.Ser14Pro)
|
rs201230502
|
0.00230
|
|
NM_014339.7(IL17RA):c.958T>C (p.Trp320Arg)
|
rs140221307
|
0.00230
|
|
NM_017866.6(TMEM70):c.211-6C>T
|
rs113669789
|
0.00230
|
|
NM_021729.6(VPS11):c.2078T>C (p.Met693Thr)
|
rs146380141
|
0.00230
|
|
NM_138422.4(ADAT3):c.383G>T (p.Arg128Leu)
|
rs200992550
|
0.00230
|
|
NM_173630.4(RTTN):c.4303-8A>G
|
rs199597732
|
0.00230
|
|
NM_000077.5(CDKN2A):c.458-491C>T
|
rs181044510
|
0.00229
|
|
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)
|
rs147313927
|
0.00229
|
|
NM_001042413.2(GLIS3):c.2089G>A (p.Val697Met)
|
rs148816140
|
0.00229
|
|
NM_001048166.1(STIL):c.1024-4T>C
|
rs188900275
|
0.00229
|
|
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn)
|
rs144177566
|
0.00229
|
|
NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val)
|
rs61736002
|
0.00229
|
|
NM_001363.4(DKC1):c.-142C>G
|
rs199422241
|
0.00229
|
|
NM_002972.4(SBF1):c.4927C>A (p.Pro1643Thr)
|
rs202049257
|
0.00229
|
|
NM_003235.5(TG):c.2610G>T (p.Gln870His)
|
rs2229843
|
0.00229
|
|
NM_006949.4(STXBP2):c.365G>A (p.Arg122His)
|
rs144914451
|
0.00229
|
|
NM_032193.4(RNASEH2C):c.417C>G (p.Gly139=)
|
rs147021687
|
0.00229
|
|
NM_053025.4(MYLK):c.24C>G (p.Ala8=)
|
rs78118111
|
0.00229
|
|
NM_147686.4(TRAF3IP2):c.232C>G (p.Arg78Gly)
|
rs73764462
|
0.00229
|
|
NM_152703.5(SAMD9L):c.1216C>T (p.Arg406Ter)
|
rs150070697
|
0.00229
|
|
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=)
|
rs61754138
|
0.00228
|
|
NM_000180.4(GUCY2D):c.74C>T (p.Ser25Phe)
|
rs557108466
|
0.00228
|
|
NM_000686.5(AGTR2):c.971G>A (p.Arg324Gln)
|
rs35474657
|
0.00228
|
|
NM_001004334.4(GPR179):c.4306C>T (p.Arg1436Trp)
|
rs147966258
|
0.00228
|
|
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=)
|
rs193148631
|
0.00228
|
|
NM_001244008.2(KIF1A):c.4889G>A (p.Arg1630Gln)
|
rs191428830
|
0.00228
|
|
NM_001369.3(DNAH5):c.624C>T (p.Asn208=)
|
rs139640247
|
0.00228
|
|
NM_016553.5(NUP62):c.192C>T (p.Thr64=)
|
rs145084636
|
0.00228
|
|
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His)
|
rs35586704
|
0.00228
|
|
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=)
|
rs116587608
|
0.00227
|
|
NM_000122.2(ERCC3):c.2111C>T (p.Ser704Leu)
|
rs4150521
|
0.00227
|
|
NM_001037.5(SCN1B):c.448+193G>A
|
rs66876876
|
0.00227
|
|
NM_001127178.3(PIGG):c.422C>T (p.Ala141Val)
|
rs116772777
|
0.00227
|
|
NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr)
|
rs189186475
|
0.00227
|
|
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile)
|
rs141010716
|
0.00227
|
|
NM_001845.6(COL4A1):c.-103G>A
|
rs538721412
|
0.00227
|
|
NM_002435.3(MPI):c.414G>A (p.Met138Ile)
|
rs150217523
|
0.00227
|
|
NM_002470.4(MYH3):c.1411T>C (p.Tyr471His)
|
rs115742228
|
0.00227
|
|
NM_005502.4(ABCA1):c.5774G>A (p.Arg1925Gln)
|
rs142688906
|
0.00227
|
|
NM_014339.7(IL17RA):c.1530C>T (p.Asp510=)
|
rs148319877
|
0.00227
|
|
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)
|
rs61729954
|
0.00227
|
|
NM_014855.3(AP5Z1):c.366+5C>T
|
rs143800095
|
0.00227
|
|
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg)
|
rs142938748
|
0.00227
|
|
NM_000064.4(C3):c.4100T>C (p.Ile1367Thr)
|
rs11569541
|
0.00226
|
|
NM_001012759.3(CTU2):c.1531G>A (p.Glu511Lys)
|
rs201215099
|
0.00226
|
|
NM_001093.4(ACACB):c.134A>G (p.Gln45Arg)
|
rs139767464
|
0.00226
|
|
NM_012092.4(ICOS):c.451G>C (p.Val151Leu)
|
rs76778263
|
0.00226
|
|
NM_022454.4(SOX17):c.775T>A (p.Tyr259Asn)
|
rs267607083
|
0.00226
|
|
NM_182894.3(VSX2):c.162C>A (p.Asp54Glu)
|
rs61747367
|
0.00226
|
|
NM_000552.5(VWF):c.385C>A (p.Leu129Met)
|
rs61753991
|
0.00225
|
|
NM_001114134.2(EPB42):c.894C>T (p.Thr298=)
|
rs35719500
|
0.00225
|
|
NM_001142864.4(PIEZO1):c.7426C>T (p.Arg2476Cys)
|
rs144035770
|
0.00225
|
|
NM_001163435.3(TBCK):c.1130A>T (p.Asp377Val)
|
rs34840340
|
0.00225
|
|
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val)
|
rs116355217
|
0.00225
|
|
NM_001374736.1(DST):c.2256A>T (p.Ser752=)
|
rs113432929
|
0.00225
|
|
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp)
|
rs148040591
|
0.00225
|
|
NM_004998.4(MYO1E):c.153T>C (p.Tyr51=)
|
rs113544635
|
0.00225
|
|
NM_005559.4(LAMA1):c.2657C>T (p.Ala886Val)
|
rs144738522
|
0.00225
|
|
NM_015295.3(SMCHD1):c.424+10C>T
|
rs201631086
|
0.00225
|
|
NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val)
|
rs142586585
|
0.00225
|
|
NM_153704.6(TMEM67):c.25G>A (p.Val9Met)
|
rs199961375
|
0.00225
|
|
NM_005076.5(CNTN2):c.505C>T (p.Leu169Phe)
|
rs142502980
|
0.00224
|
|
NM_024809.5(TCTN2):c.-2G>A
|
rs141768405
|
0.00224
|
|
NM_000016.6(ACADM):c.469-9A>G
|
rs181322317
|
0.00223
|
|
NM_000492.4(CFTR):c.1585-9395C>G
|
rs77164005
|
0.00223
|
|
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser)
|
rs140959406
|
0.00223
|
|
NM_003482.4(KMT2D):c.8774C>T (p.Ala2925Val)
|
rs199547661
|
0.00223
|
|
NM_004562.3(PRKN):c.1310C>T (p.Pro437Leu)
|
rs149953814
|
0.00223
|
|
NM_007315.4(STAT1):c.793A>G (p.Ile265Val)
|
rs148775168
|
0.00223
|
|
NM_014339.7(IL17RA):c.152C>T (p.Thr51Met)
|
rs143008696
|
0.00223
|
|
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp)
|
rs201620358
|
0.00223
|
|
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro)
|
rs147444165
|
0.00223
|
|
NM_021098.3(CACNA1H):c.6622G>A (p.Ala2208Thr)
|
rs60445853
|
0.00223
|
|
NM_024598.4(USB1):c.641G>A (p.Cys214Tyr)
|
rs146685901
|
0.00223
|
|
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)
|
rs147222255
|
0.00223
|
|
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser)
|
rs141620200
|
0.00222
|
|
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)
|
rs62646863
|
0.00222
|
|
NM_000379.4(XDH):c.3536T>C (p.Ile1179Thr)
|
rs139515054
|
0.00222
|
|
NM_000552.5(VWF):c.3089A>G (p.Gln1030Arg)
|
rs145125264
|
0.00222
|
|
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met)
|
rs139971481
|
0.00222
|
|
NM_001148.6(ANK2):c.7132G>A (p.Glu2378Lys)
|
rs141191319
|
0.00222
|
|
NM_001160372.4(TRAPPC9):c.3291C>T (p.Ser1097=)
|
rs148857575
|
0.00222
|
|
NM_001355436.2(SPTB):c.1896A>G (p.Gln632=)
|
rs74056006
|
0.00222
|
|
NM_001367624.2(ZNF469):c.7267C>A (p.Pro2423Thr)
|
rs199727372
|
0.00222
|
|
NM_001854.4(COL11A1):c.2556+92T>A
|
rs550991929
|
0.00222
|
|
NM_004482.4(GALNT3):c.901G>A (p.Val301Ile)
|
rs143647583
|
0.00222
|
|
NM_006767.4(LZTR1):c.2187C>T (p.Tyr729=)
|
rs117346988
|
0.00222
|
|
NM_021870.3(FGG):c.323C>G (p.Ala108Gly)
|
rs148685782
|
0.00222
|
|
NM_022042.4(SLC26A1):c.1043T>C (p.Leu348Pro)
|
rs148386572
|
0.00222
|
|
NM_024747.6(HPS6):c.337C>T (p.Arg113Trp)
|
rs371307947
|
0.00222
|
|
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp)
|
rs144383241
|
0.00222
|
|
NM_000212.3(ITGB3):c.557C>T (p.Pro186Leu)
|
rs61736876
|
0.00221
|
|
NM_005359.6(SMAD4):c.1140-10T>C
|
rs186332162
|
0.00221
|
|
NM_020066.5(FMN2):c.4619C>T (p.Ser1540Leu)
|
rs150801382
|
0.00221
|
|
NM_020779.4(WDR35):c.355C>T (p.Arg119Cys)
|
rs140308808
|
0.00221
|
|
NM_033026.6(PCLO):c.10767C>G (p.Asp3589Glu)
|
rs149879954
|
0.00221
|
|
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=)
|
rs150638770
|
0.00220
|
|
NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn)
|
rs113870881
|
0.00220
|
|
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe)
|
rs145891889
|
0.00220
|
|
NM_001048166.1(STIL):c.3581C>T (p.Pro1194Leu)
|
rs144746030
|
0.00220
|
|
NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro)
|
rs558064127
|
0.00220
|
|
NM_002334.4(LRP4):c.1048+7G>T
|
rs148557097
|
0.00220
|
|
NM_004369.4(COL6A3):c.1688A>G (p.Asp563Gly)
|
rs112913396
|
0.00220
|
|
NM_005051.3(QARS1):c.25C>A (p.Leu9Ile)
|
rs62621067
|
0.00220
|
|
NM_005916.5(MCM7):c.1417G>A (p.Gly473Ser)
|
rs2307347
|
0.00220
|
|
NM_014336.5(AIPL1):c.516T>C (p.His172=)
|
rs62637017
|
0.00220
|
|
NM_020745.4(AARS2):c.1162C>T (p.Pro388Ser)
|
rs139372744
|
0.00220
|
|
NM_032273.4(TMEM126A):c.96T>G (p.Leu32=)
|
rs36100288
|
0.00220
|
|
NM_133642.5(LARGE1):c.210C>T (p.Arg70=)
|
rs145048151
|
0.00220
|
|
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg)
|
rs74315416
|
0.00220
|
|
NM_152618.3(BBS12):c.212A>G (p.Asn71Ser)
|
rs143960329
|
0.00220
|
|
NM_183050.4(BCKDHB):c.742+16A>G
|
rs140373763
|
0.00220
|
|
NM_000019.4(ACAT1):c.60G>C (p.Arg20=)
|
rs77311724
|
0.00219
|
|
NM_000135.4(FANCA):c.3514-4A>G
|
rs149388130
|
0.00219
|
|
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr)
|
rs45517319
|
0.00219
|
|
NM_001143820.2(ETS1):c.617A>G (p.Tyr206Cys)
|
rs142279599
|
0.00219
|
|
NM_001365276.2(TNXB):c.3272C>A (p.Ser1091Tyr)
|
rs61978561
|
0.00219
|
|
NM_001377.3(DYNC2H1):c.9254C>T (p.Ala3085Val)
|
rs202071528
|
0.00219
|
|
NM_003922.4(HERC1):c.3374G>A (p.Gly1125Asp)
|
rs80203202
|
0.00219
|
|
NM_004937.3(CTNS):c.116C>T (p.Ser39Leu)
|
rs144751390
|
0.00219
|
|
NM_052859.4(RFT1):c.382C>T (p.Leu128Phe)
|
rs140127085
|
0.00219
|
|
NM_000466.3(PEX1):c.330C>G (p.Pro110=)
|
rs71560821
|
0.00218
|
|
NM_001079802.2(FKTN):c.167G>A (p.Arg56His)
|
rs146951171
|
0.00218
|
|
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser)
|
rs140666848
|
0.00218
|
|
NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=)
|
rs202043044
|
0.00218
|
|
NM_004525.3(LRP2):c.11663G>A (p.Arg3888His)
|
rs77686710
|
0.00218
|
|
NM_018418.5(SPATA7):c.815G>A (p.Arg272Gln)
|
rs34682727
|
0.00218
|
|
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala)
|
rs143303575
|
0.00218
|
|
NM_032444.4(SLX4):c.2290C>G (p.Pro764Ala)
|
rs151105762
|
0.00218
|
|
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro)
|
rs11466018
|
0.00217
|
|
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)
|
rs144942544
|
0.00217
|
|
NM_001001557.4(GDF6):c.112G>C (p.Gly38Arg)
|
rs139075817
|
0.00217
|
|
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala)
|
rs144787939
|
0.00217
|
|
NM_001305581.2(LRMDA):c.193C>T (p.Leu65=)
|
rs147768808
|
0.00217
|
|
NM_001813.3(CENPE):c.3749C>G (p.Thr1250Ser)
|
rs114698062
|
0.00217
|
|
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly)
|
rs56157422
|
0.00217
|
|
NM_005506.4(SCARB2):c.445G>A (p.Val149Met)
|
rs147159813
|
0.00217
|
|
NM_020458.4(TTC7A):c.2014T>C (p.Ser672Pro)
|
rs149602485
|
0.00217
|
|
NM_020863.4(ZFAT):c.1409C>G (p.Ser470Cys)
|
rs112892337
|
0.00217
|
|
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)
|
rs41419545
|
0.00217
|
|
NM_173630.4(RTTN):c.3338G>A (p.Cys1113Tyr)
|
rs117774280
|
0.00217
|
|
NM_198514.4(NHLRC2):c.1823C>T (p.Ala608Val)
|
rs150975627
|
0.00217
|
|
NM_000466.3(PEX1):c.2442C>T (p.Phe814=)
|
rs145430946
|
0.00216
|
|
NM_001080414.4(CCDC88C):c.5242G>A (p.Gly1748Arg)
|
rs200543687
|
0.00216
|
|
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met)
|
rs7196804
|
0.00216
|
|
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln)
|
rs137934837
|
0.00216
|
|
NM_003721.4(RFXANK):c.445G>A (p.Asp149Asn)
|
rs115220304
|
0.00216
|
|
NM_016122.3(CEP83):c.1232T>C (p.Met411Thr)
|
rs199617764
|
0.00216
|
|
NM_020458.4(TTC7A):c.1817A>G (p.Lys606Arg)
|
rs139010200
|
0.00216
|
|
NM_139125.4(MASP1):c.1521G>A (p.Thr507=)
|
rs139497497
|
0.00216
|
|
NM_173630.4(RTTN):c.4193C>T (p.Thr1398Met)
|
rs62089120
|
0.00216
|
|
NM_198576.4(AGRN):c.1394C>T (p.Pro465Leu)
|
rs116586548
|
0.00216
|
|
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)
|
rs34596189
|
0.00216
|
|
NM_213599.3(ANO5):c.*1712T>C
|
rs530413127
|
0.00216
|
|
NM_000051.4(ATM):c.370A>G (p.Ile124Val)
|
rs148590073
|
0.00215
|
|
NM_000222.3(KIT):c.1199A>G (p.Asn400Ser)
|
rs72549294
|
0.00215
|
|
NM_001083961.2(WDR62):c.4312-5T>G
|
rs182467995
|
0.00215
|
|
NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val)
|
rs181295720
|
0.00215
|
|
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=)
|
rs61757111
|
0.00215
|
|
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=)
|
rs137932254
|
0.00215
|
|
NM_004447.6(EPS8):c.1876C>A (p.Pro626Thr)
|
rs142733590
|
0.00215
|
|
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile)
|
rs74360232
|
0.00215
|
|
NM_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val)
|
rs2066520
|
0.00215
|
|
NM_015937.6(PIGT):c.1067G>A (p.Arg356Gln)
|
rs139366969
|
0.00215
|
|
NM_032122.5(DTNBP1):c.662G>A (p.Arg221Gln)
|
rs76349207
|
0.00215
|
|
NM_152564.5(VPS13B):c.10744A>G (p.Ile3582Val)
|
rs145547375
|
0.00215
|
|
NM_178857.6(RP1L1):c.32C>T (p.Pro11Leu)
|
rs199642627
|
0.00215
|
|
NM_000112.4(SLC26A2):c.2087A>G (p.Asn696Ser)
|
rs34351171
|
0.00214
|
|
NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val)
|
rs201036248
|
0.00214
|
|
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=)
|
rs370286749
|
0.00214
|
|
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys)
|
rs142429411
|
0.00214
|
|
NM_144631.6(ZNF513):c.781G>A (p.Val261Met)
|
rs61742428
|
0.00214
|
|
NM_000170.3(GLDC):c.2487C>T (p.Ala829=)
|
rs141806715
|
0.00213
|
|
NM_000384.3(APOB):c.11257T>C (p.Phe3753Leu)
|
rs61741974
|
0.00213
|
|
NM_001126108.2(SLC12A3):c.928G>A (p.Glu310Lys)
|
rs146834675
|
0.00213
|
|
NM_001142800.2(EYS):c.788A>G (p.His263Arg)
|
rs139517572
|
0.00213
|
|
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser)
|
rs139968311
|
0.00213
|
|
NM_018699.4(PRDM5):c.1283-5C>T
|
rs185134294
|
0.00213
|
|
NM_018943.3(TUBA8):c.1334A>T (p.Glu445Val)
|
rs138073466
|
0.00213
|
|
NM_020070.4(IGLL1):c.350C>T (p.Thr117Ile)
|
rs143780139
|
0.00213
|
|
NM_198514.4(NHLRC2):c.1751T>C (p.Leu584Pro)
|
rs144606661
|
0.00213
|
|
NM_000077.5(CDKN2A):c.150+37G>C
|
rs45456595
|
0.00212
|
|
NM_000321.3(RB1):c.2212-15A>G
|
rs372815788
|
0.00212
|
|
NM_000492.4(CFTR):c.2620-15C>G
|
rs139379077
|
0.00212
|
|
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser)
|
rs149210307
|
0.00212
|
|
NM_001080414.4(CCDC88C):c.5087T>C (p.Leu1696Pro)
|
rs77154172
|
0.00212
|
|
NM_001256071.3(RNF213):c.5947C>T (p.Arg1983Trp)
|
rs116608867
|
0.00212
|
|
NM_001277115.2(DNAH11):c.13076G>A (p.Arg4359Gln)
|
rs113653972
|
0.00212
|
|
NM_001303.4(COX10):c.1291C>T (p.Arg431Trp)
|
rs113058506
|
0.00212
|
|
NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=)
|
rs180787556
|
0.00212
|
|
NM_001378030.1(CCDC78):c.966C>A (p.Asn322Lys)
|
rs148595483
|
0.00212
|
|
NM_001384474.1(LOXHD1):c.4822G>A (p.Val1608Ile)
|
rs140042576
|
0.00212
|
|
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile)
|
rs41275239
|
0.00212
|
|
NM_005245.4(FAT1):c.10966G>A (p.Val3656Ile)
|
rs192691397
|
0.00212
|
|
NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp)
|
rs144888041
|
0.00212
|
|
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His)
|
rs76024428
|
0.00212
|
|
NM_147127.5(EVC2):c.463T>C (p.Ser155Pro)
|
rs143388379
|
0.00212
|
|
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs)
|
rs565866662
|
0.00212
|
|
NM_000138.5(FBN1):c.1469-36A>C
|
rs72739819
|
0.00211
|
|
NM_000593.6(TAP1):c.1103T>C (p.Ile368Thr)
|
rs55767910
|
0.00211
|
|
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys)
|
rs28929470
|
0.00211
|
|
NM_001292063.2(OTOG):c.6893G>A (p.Arg2298His)
|
rs142799217
|
0.00211
|
|
NM_001367805.3(KIF23):c.274G>C (p.Val92Leu)
|
rs137922672
|
0.00211
|
|
NM_001378778.1(MPDZ):c.1975G>A (p.Val659Ile)
|
rs77838108
|
0.00211
|
|
NM_006079.5(CITED2):c.479A>T (p.His160Leu)
|
rs111814036
|
0.00211
|
|
NM_006796.3(AFG3L2):c.98A>C (p.Gln33Pro)
|
rs777868371
|
0.00211
|
|
NM_015967.8(PTPN22):c.1108C>A (p.His370Asn)
|
rs72650671
|
0.00211
|
|
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser)
|
rs142021049
|
0.00211
|
|
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys)
|
rs147559466
|
0.00210
|
|
NM_000153.4(GALC):c.-318T>C
|
rs556647825
|
0.00210
|
|
NM_001105206.3(LAMA4):c.195+131C>G
|
rs138579810
|
0.00210
|
|
NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn)
|
rs116134953
|
0.00210
|
|
NM_001292063.2(OTOG):c.7009G>C (p.Val2337Leu)
|
rs540794663
|
0.00210
|
|
NM_001378609.3(OTOGL):c.3255T>C (p.Thr1085=)
|
rs138823379
|
0.00210
|
|
NM_001854.4(COL11A1):c.3384+13T>G
|
rs201970483
|
0.00210
|
|
NM_004625.4(WNT7A):c.861G>A (p.Val287=)
|
rs149962459
|
0.00210
|
|
NM_004946.3(DOCK2):c.1360G>A (p.Ala454Thr)
|
rs114888195
|
0.00210
|
|
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg)
|
rs137973321
|
0.00210
|
|
NM_006563.5(KLF1):c.311C>T (p.Ala104Val)
|
rs182276666
|
0.00210
|
|
NM_018255.4(ELP2):c.224C>G (p.Ser75Cys)
|
rs74438152
|
0.00210
|
|
NM_025145.7(CFAP43):c.745G>T (p.Asp249Tyr)
|
rs41291844
|
0.00210
|
|
NM_031296.3(RAB33B):c.530C>T (p.Thr177Met)
|
rs140381459
|
0.00210
|
|
NM_032444.4(SLX4):c.2103G>C (p.Glu701Asp)
|
rs73505420
|
0.00210
|
|
NM_144991.3(TSPEAR):c.170G>A (p.Arg57Gln)
|
rs151001222
|
0.00210
|
|
NM_153006.3(NAGS):c.1281C>G (p.Ala427=)
|
rs371886833
|
0.00210
|
|
NM_172364.5(CACNA2D4):c.3356C>T (p.Pro1119Leu)
|
rs145150489
|
0.00210
|
|
NM_173630.4(RTTN):c.5212C>T (p.His1738Tyr)
|
rs35068710
|
0.00210
|
|
NM_000037.4(ANK1):c.*8C>A
|
rs146341756
|
0.00209
|
|
NM_000391.4(TPP1):c.293C>T (p.Thr98Met)
|
rs140726254
|
0.00209
|
|
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe)
|
rs150441555
|
0.00209
|
|
NM_001868.4(CPA1):c.497G>A (p.Gly166Asp)
|
rs144546424
|
0.00209
|
|
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp)
|
rs4986845
|
0.00209
|
|
NM_020631.6(PLEKHG5):c.307G>A (p.Val103Met)
|
rs141032388
|
0.00209
|
|
NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu)
|
rs36220240
|
0.00209
|
|
NM_000170.3(GLDC):c.1156-7C>G
|
rs150095531
|
0.00208
|
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
|
NM_000540.3(RYR1):c.2121C>A (p.Gly707=)
|
rs146104858
|
0.00208
|
|
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met)
|
rs78592085
|
0.00208
|
|
NM_001292063.2(OTOG):c.8476C>T (p.Arg2826Cys)
|
rs191662816
|
0.00208
|
|
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter)
|
rs61752842
|
0.00208
|
|
NM_005245.4(FAT1):c.9440T>G (p.Val3147Gly)
|
rs188733415
|
0.00208
|
|
NM_006493.4(CLN5):c.-99G>C
|
rs202118652
|
0.00208
|
|
NM_020919.4(ALS2):c.2241C>T (p.Tyr747=)
|
rs3219160
|
0.00208
|
|
NM_000243.3(MEFV):c.1459G>C (p.Val487Leu)
|
rs104895100
|
0.00207
|
|
NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr)
|
rs147012990
|
0.00207
|
|
NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr)
|
rs139872140
|
0.00207
|
|
NM_001849.4(COL6A2):c.1333-10C>G
|
rs199513044
|
0.00207
|
|
NM_001851.6(COL9A1):c.904G>A (p.Gly302Ser)
|
rs151129325
|
0.00207
|
|
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln)
|
rs61889560
|
0.00207
|
|
NM_005518.4(HMGCS2):c.1522G>A (p.Val508Ile)
|
rs76773981
|
0.00207
|
|
NM_005732.4(RAD50):c.980G>A (p.Arg327His)
|
rs28903091
|
0.00207
|
|
NM_006363.6(SEC23B):c.1595G>C (p.Gly532Ala)
|
rs143456757
|
0.00207
|
|
NM_016343.4(CENPF):c.1055A>G (p.Gln352Arg)
|
rs6697155
|
0.00207
|
|
NM_018136.5(ASPM):c.8255T>G (p.Met2752Arg)
|
rs148328539
|
0.00207
|
|
NM_020884.7(MYH7B):c.2629C>T (p.Arg877Cys)
|
rs200371401
|
0.00207
|
|
NM_030928.4(CDT1):c.1411C>G (p.Pro471Ala)
|
rs141663679
|
0.00207
|
|
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)
|
rs147241704
|
0.00207
|
|
NM_147127.5(EVC2):c.18C>T (p.Ser6=)
|
rs556910528
|
0.00207
|
|
NM_198253.3(TERT):c.3105C>T (p.Val1035=)
|
rs181612536
|
0.00207
|
|
NM_000204.5(CFI):c.1642G>C (p.Glu548Gln)
|
rs7437875
|
0.00206
|
|
NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg)
|
rs60103800
|
0.00206
|
|
NM_000383.4(AIRE):c.1566+8C>T
|
rs72650680
|
0.00206
|
|
NM_000426.4(LAMA2):c.411G>A (p.Ala137=)
|
rs149347601
|
0.00206
|
|
NM_000484.4(APP):c.2212-11_2212-10del
|
rs112965435
|
0.00206
|
|
NM_000540.3(RYR1):c.12283-7C>T
|
rs143861818
|
0.00206
|
|
NM_001625.4(AK2):c.602A>T (p.Tyr201Phe)
|
rs113711467
|
0.00206
|
|
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
|
NM_052989.3(IFT122):c.3129C>T (p.Arg1043=)
|
rs76881473
|
0.00206
|
|
NM_000293.3(PHKB):c.518A>G (p.Asn173Ser)
|
rs139738333
|
0.00205
|
|
NM_001035.3(RYR2):c.2760G>A (p.Glu920=)
|
rs186181155
|
0.00205
|
|
NM_001114134.2(EPB42):c.453T>C (p.Asn151=)
|
rs114136713
|
0.00205
|
|
NM_001378609.3(OTOGL):c.3069A>G (p.Gln1023=)
|
rs144125797
|
0.00205
|
|
NM_001379270.1(CNGA1):c.1031A>G (p.Lys344Arg)
|
rs140419673
|
0.00205
|
|
NM_001876.4(CPT1A):c.2198A>G (p.Asn733Ser)
|
rs151271754
|
0.00205
|
|
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys)
|
rs150278938
|
0.00205
|
|
NM_004646.4(NPHS1):c.128T>C (p.Val43Ala)
|
rs140626538
|
0.00205
|
|
NM_005431.2(XRCC2):c.808T>G (p.Phe270Val)
|
rs145085742
|
0.00205
|
|
NM_005559.4(LAMA1):c.2989C>T (p.Pro997Ser)
|
rs148593258
|
0.00205
|
|
NM_016239.4(MYO15A):c.5287C>T (p.Arg1763Trp)
|
rs200146361
|
0.00205
|
|
NM_018076.5(ODAD2):c.2342G>T (p.Gly781Val)
|
rs145619075
|
0.00205
|
|
NM_020759.3(STARD9):c.10480G>A (p.Val3494Ile)
|
rs143444286
|
0.00205
|
|
NM_021978.4(ST14):c.508G>A (p.Glu170Lys)
|
rs150984123
|
0.00205
|
|
NM_023036.6(DNAI2):c.1408G>A (p.Gly470Ser)
|
rs115299472
|
0.00205
|
|
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)
|
rs80359890
|
0.00205
|
|
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val)
|
rs61733680
|
0.00204
|
|
NM_000304.4(PMP22):c.-141C>G
|
rs560442424
|
0.00204
|
|
NM_000452.3(SLC10A2):c.762-3T>C
|
rs190734512
|
0.00204
|
|
NM_001126121.2(SLC25A19):c.797T>G (p.Met266Arg)
|
rs148372053
|
0.00204
|
|
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr)
|
rs55837610
|
0.00204
|
|
NM_001365304.2(LOC112694756):c.*621+4C>T
|
rs200278984
|
0.00204
|
|
NM_004239.4(TRIP11):c.5629C>A (p.Pro1877Thr)
|
rs148261539
|
0.00204
|
|
NM_006269.2(RP1):c.4250T>C (p.Leu1417Pro)
|
rs139294220
|
0.00204
|
|
NM_032833.5(PPP1R15B):c.136G>A (p.Gly46Arg)
|
rs149785262
|
0.00204
|
|
NM_207361.6(FREM2):c.9113T>C (p.Val3038Ala)
|
rs114688149
|
0.00204
|
|
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys)
|
rs55977008
|
0.00203
|
|
NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala)
|
rs141893001
|
0.00203
|
|
NM_001035.3(RYR2):c.10324-4A>G
|
rs72751287
|
0.00203
|
|
NM_001122659.3(EDNRB):c.1239C>G (p.Ser413=)
|
rs139317762
|
0.00203
|
|
NM_001163809.2(WDR81):c.5231C>T (p.Ala1744Val)
|
rs137952560
|
0.00203
|
|
NM_002187.3(IL12B):c.749G>A (p.Arg250Gln)
|
rs74644143
|
0.00203
|
|
NM_003640.5(ELP1):c.1886G>A (p.Arg629His)
|
rs148378319
|
0.00203
|
|
NM_005559.4(LAMA1):c.1792G>C (p.Glu598Gln)
|
rs116690149
|
0.00203
|
|
NM_014639.4(SKIC3):c.3940G>A (p.Glu1314Lys)
|
rs74664147
|
0.00203
|
|
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=)
|
rs114827737
|
0.00203
|
|
NM_153816.6(SNX14):c.994-5T>A
|
rs145795023
|
0.00203
|
|
NM_177986.5(DSG4):c.2366C>T (p.Ala789Val)
|
rs144490546
|
0.00203
|
|
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg)
|
rs138410949
|
0.00203
|
|
NM_198576.4(AGRN):c.2690C>T (p.Ala897Val)
|
rs116836855
|
0.00203
|
|
NM_000175.5(GPI):c.907A>C (p.Met303Leu)
|
rs143733383
|
0.00202
|
|
NM_000313.4(PROS1):c.698G>A (p.Arg233Lys)
|
rs41267007
|
0.00202
|
|
NM_000601.6(HGF):c.1008G>A (p.Glu336=)
|
rs148714837
|
0.00202
|
|
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile)
|
rs72677232
|
0.00202
|
|
NM_001379500.1(COL18A1):c.3665G>A (p.Arg1222His)
|
rs201006742
|
0.00202
|
|
NM_004407.4(DMP1):c.815G>A (p.Arg272His)
|
rs145237146
|
0.00202
|
|
NM_004807.3(HS6ST1):c.652C>T (p.Pro218Ser)
|
rs200268730
|
0.00202
|
|
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile)
|
rs138232538
|
0.00202
|
|
NM_017775.4(TTC19):c.820A>G (p.Arg274Gly)
|
rs147111211
|
0.00202
|
|
NM_025150.5(TARS2):c.1160C>T (p.Pro387Leu)
|
rs141179905
|
0.00202
|
|
NM_052945.4(TNFRSF13C):c.317G>A (p.Arg106Gln)
|
rs150374940
|
0.00202
|
|
NM_080605.4(B3GALT6):c.107C>T (p.Pro36Leu)
|
rs568623476
|
0.00202
|
|
NM_182746.3(MCM4):c.1406G>C (p.Ser469Thr)
|
rs117063344
|
0.00202
|
|
NM_000243.3(MEFV):c.1173T>C (p.Asp391=)
|
rs146077729
|
0.00201
|
|
NM_000463.3(UGT1A1):c.540A>G (p.Glu180=)
|
rs148755655
|
0.00201
|
|
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg)
|
rs200662010
|
0.00201
|
|
NM_001142800.2(EYS):c.-337T>A
|
rs145321084
|
0.00201
|
|
NM_001374385.1(ATP8B1):c.1286A>C (p.Glu429Ala)
|
rs34018205
|
0.00201
|
|
NM_002439.5(MSH3):c.1469C>A (p.Ser490Tyr)
|
rs76249824
|
0.00201
|
|
NM_004525.3(LRP2):c.13685T>C (p.Val4562Ala)
|
rs142245618
|
0.00201
|
|
NM_006096.4(NDRG1):c.331A>C (p.Met111Leu)
|
rs2233328
|
0.00201
|
|
NM_006348.5(COG5):c.790T>A (p.Leu264Ile)
|
rs142276972
|
0.00201
|
|
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu)
|
rs17883862
|
0.00201
|
|
NM_012232.6(CAVIN1):c.356T>A (p.Val119Asp)
|
rs146547678
|
0.00201
|
|
NM_014402.5(UQCRQ):c.10G>A (p.Glu4Lys)
|
rs137995316
|
0.00201
|
|
NM_014855.3(AP5Z1):c.481G>A (p.Val161Met)
|
rs191971593
|
0.00201
|
|
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln)
|
rs41269557
|
0.00201
|
|
NM_000051.4(ATM):c.162T>C (p.Tyr54=)
|
rs3218690
|
0.00200
|
|
NM_000170.3(GLDC):c.2683A>G (p.Met895Val)
|
rs141152043
|
0.00200
|
|
NM_000197.2(HSD17B3):c.133C>T (p.Arg45Trp)
|
rs139084702
|
0.00200
|
|
NM_000492.3(CFTR):c.-461A>G
|
rs185028612
|
0.00200
|
|
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu)
|
rs121909352
|
0.00200
|
|
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser)
|
rs146616621
|
0.00200
|
|
NM_001365999.1(SZT2):c.6380A>T (p.Tyr2127Phe)
|
rs149812437
|
0.00200
|
|
NM_002408.4(MGAT2):c.229C>T (p.Pro77Ser)
|
rs145684106
|
0.00200
|
|
NM_004840.3(ARHGEF6):c.169T>C (p.Cys57Arg)
|
rs147131853
|
0.00200
|
|
NM_012123.4(MTO1):c.922A>G (p.Thr308Ala)
|
rs145043138
|
0.00200
|
|
NM_014336.5(AIPL1):c.1006G>A (p.Ala336Thr)
|
rs143092701
|
0.00200
|
|
NM_014639.4(SKIC3):c.3207G>C (p.Glu1069Asp)
|
rs143346257
|
0.00200
|
|
NM_017950.4(CCDC40):c.1673C>G (p.Thr558Arg)
|
rs191736683
|
0.00200
|
|
NM_020461.4(TUBGCP6):c.89G>A (p.Arg30Gln)
|
rs148626062
|
0.00200
|
|
NM_000041.4(APOE):c.137T>C (p.Leu46Pro)
|
rs769452
|
0.00199
|
|
NM_000153.4(GALC):c.525C>T (p.Val175=)
|
rs181066089
|
0.00199
|
|
NM_001042413.2(GLIS3):c.893C>A (p.Ser298Tyr)
|
rs148572278
|
0.00199
|
|
NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met)
|
rs138509553
|
0.00199
|
|
NM_001374504.1(TMPRSS6):c.307C>T (p.Arg103Cys)
|
rs113803353
|
0.00199
|
|
NM_001567.4(INPPL1):c.1343C>T (p.Ser448Leu)
|
rs139442327
|
0.00199
|
|
NM_006329.4(FBLN5):c.376G>A (p.Val126Met)
|
rs61734479
|
0.00199
|
|
NM_012073.5(CCT5):c.331+14A>T
|
rs201171003
|
0.00199
|
|
NM_181426.2(CCDC39):c.1363-3del
|
rs551191744
|
0.00199
|
|
NM_194318.4(B3GLCT):c.271-8T>C
|
rs183322816
|
0.00199
|
|
NM_000064.4(C3):c.2203C>T (p.Arg735Trp)
|
rs117793540
|
0.00198
|
|
NM_000228.3(LAMB3):c.332A>G (p.Asp111Gly)
|
rs55824996
|
0.00198
|
|
NM_001358263.1(HK1):c.75+20082A>G
|
rs187500777
|
0.00198
|
|
NM_002253.4(KDR):c.2312C>T (p.Thr771Met)
|
rs149745504
|
0.00198
|
|
NM_002396.5(ME2):c.629T>C (p.Ile210Thr)
|
rs142990108
|
0.00198
|
|
NM_003098.3(SNTA1):c.221C>T (p.Pro74Leu)
|
rs572545726
|
0.00198
|
|
NM_003235.5(TG):c.6181G>A (p.Gly2061Arg)
|
rs115436575
|
0.00198
|
|
NM_005327.7(HADH):c.643C>A (p.Pro215Thr)
|
rs140413151
|
0.00198
|
|
NM_005559.4(LAMA1):c.1239C>A (p.Asp413Glu)
|
rs144278838
|
0.00198
|
|
NM_006901.4(MYO9A):c.6454G>A (p.Glu2152Lys)
|
rs74022458
|
0.00198
|
|
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)
|
rs36061856
|
0.00198
|
|
NM_017662.5(TRPM6):c.2319G>C (p.Gln773His)
|
rs143164660
|
0.00198
|
|
NM_025114.4(CEP290):c.251-11T>A
|
rs200666995
|
0.00198
|
|
NM_032608.7(MYO18B):c.3431C>T (p.Ala1144Val)
|
rs185802314
|
0.00198
|
|
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys)
|
rs149522482
|
0.00198
|
|
NM_000260.4(MYO7A):c.3750+9G>A
|
rs111033252
|
0.00197
|
|
NM_000540.3(RYR1):c.271-7C>G
|
rs192495718
|
0.00197
|
|
NM_001040108.2(MLH3):c.2425A>G (p.Met809Val)
|
rs61752722
|
0.00197
|
|
NM_001355436.2(SPTB):c.5052C>T (p.Arg1684=)
|
rs229593
|
0.00197
|
|
NM_001365999.1(SZT2):c.4898C>T (p.Ser1633Leu)
|
rs138762270
|
0.00197
|
|
NM_001378609.3(OTOGL):c.3356T>C (p.Ile1119Thr)
|
rs150426222
|
0.00197
|
|
NM_001909.5(CTSD):c.639C>G (p.Pro213=)
|
rs146073498
|
0.00197
|
|
NM_003742.4(ABCB11):c.127G>A (p.Val43Ile)
|
rs183406496
|
0.00197
|
|
NM_003748.4(ALDH4A1):c.244G>A (p.Val82Met)
|
rs76762510
|
0.00197
|
|
NM_003977.4(AIP):c.47G>A (p.Arg16His)
|
rs145047094
|
0.00197
|
|
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln)
|
rs146321088
|
0.00197
|
|
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)
|
rs146451611
|
0.00197
|
|
NM_016239.4(MYO15A):c.5754T>G (p.Ile1918Met)
|
rs150403702
|
0.00197
|
|
NM_024426.6(WT1):c.309C>A (p.Gly103=)
|
rs547333427
|
0.00197
|
|
NM_000389.5(CDKN1A):c.350G>A (p.Cys117Tyr)
|
rs148679597
|
0.00196
|
|
NM_001136193.2(FASTKD2):c.2018A>G (p.Asn673Ser)
|
rs142211558
|
0.00196
|
|
NM_001329943.3(KIAA0586):c.4519G>A (p.Ala1507Thr)
|
rs140026883
|
0.00196
|
|
NM_001918.5(DBT):c.1418A>G (p.Asn473Ser)
|
rs75525811
|
0.00196
|
|
NM_002454.3(MTRR):c.1982A>G (p.His661Arg)
|
rs148909799
|
0.00196
|
|
NM_003619.4(PRSS12):c.323C>G (p.Pro108Arg)
|
rs199996930
|
0.00196
|
|
NM_004525.3(LRP2):c.6850A>G (p.Thr2284Ala)
|
rs35413340
|
0.00196
|
|
NM_005373.3(MPL):c.1654-10T>A
|
rs200460456
|
0.00196
|
|
NM_014714.4(IFT140):c.1336A>G (p.Ile446Val)
|
rs139619013
|
0.00196
|
|
NM_020751.3(COG6):c.320A>T (p.Asp107Val)
|
rs146229425
|
0.00196
|
|
NM_024996.7(GFM1):c.2190C>T (p.Asp730=)
|
rs149049400
|
0.00196
|
|
NM_024996.7(GFM1):c.960A>C (p.Pro320=)
|
rs145970222
|
0.00196
|
|
NM_203447.4(DOCK8):c.380G>A (p.Arg127His)
|
rs150742426
|
0.00196
|
|
NM_206937.2(LIG4):c.686A>G (p.His229Arg)
|
rs142957638
|
0.00196
|
|
NM_000059.4(BRCA2):c.6937+565T>C
|
rs11571675
|
0.00195
|
|
NM_000070.3(CAPN3):c.2264-11C>T
|
rs28364537
|
0.00195
|
|
NM_000552.5(VWF):c.7059G>C (p.Glu2353Asp)
|
rs112319661
|
0.00195
|
|
NM_000717.5(CA4):c.*59G>A
|
rs530720914
|
0.00195
|
|
NM_000940.3(PON3):c.94C>T (p.Arg32Ter)
|
rs147006695
|
0.00195
|
|
NM_001036.6(RYR3):c.7490A>G (p.Asn2497Ser)
|
rs61996331
|
0.00195
|
|
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)
|
rs72646873
|
0.00195
|
|
NM_001361.5(DHODH):c.983C>T (p.Pro328Leu)
|
rs79673084
|
0.00195
|
|
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val)
|
rs73945001
|
0.00195
|
|
NM_001378609.3(OTOGL):c.3488A>G (p.Asp1163Gly)
|
rs202085918
|
0.00195
|
|
NM_002473.6(MYH9):c.4396C>T (p.Arg1466Trp)
|
rs139134727
|
0.00195
|
|
NM_005327.7(HADH):c.456G>T (p.Gln152His)
|
rs1051519
|
0.00195
|
|
NM_005529.7(HSPG2):c.9327C>T (p.His3109=)
|
rs61743674
|
0.00195
|
|
NM_005632.3(CAPN15):c.2192+8C>T
|
rs144209708
|
0.00195
|
|
NM_016292.3(TRAP1):c.2053G>A (p.Asp685Asn)
|
rs61756352
|
0.00195
|
|
NM_030928.4(CDT1):c.1631A>T (p.Glu544Val)
|
rs144843732
|
0.00195
|
|
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr)
|
rs145556097
|
0.00195
|
|
NM_153717.3(EVC):c.8G>C (p.Arg3Pro)
|
rs756852655
|
0.00195
|
|
NM_000044.6(AR):c.1139C>G (p.Pro380Arg)
|
rs200510049
|
0.00194
|
|
NM_001004334.4(GPR179):c.959G>A (p.Arg320Gln)
|
rs189931659
|
0.00194
|
|
NM_001010892.3(RSPH4A):c.2101G>C (p.Glu701Gln)
|
rs140660854
|
0.00194
|
|
NM_001048166.1(STIL):c.1069G>A (p.Ala357Thr)
|
rs75426387
|
0.00194
|
|
NM_001082538.3(TCTN1):c.1387T>C (p.Trp463Arg)
|
rs114568905
|
0.00194
|
|
NM_001102401.4(TTI2):c.1115+7C>G
|
rs199720231
|
0.00194
|
|
NM_001142864.4(PIEZO1):c.985C>G (p.Leu329Val)
|
rs114507258
|
0.00194
|
|
NM_001244008.2(KIF1A):c.5043G>A (p.Gly1681=)
|
rs143815273
|
0.00194
|
|
NM_002693.3(POLG):c.1174C>G (p.Leu392Val)
|
rs145289229
|
0.00194
|
|
NM_003356.4(UCP3):c.427C>T (p.Arg143Ter)
|
rs104894319
|
0.00194
|
|
NM_153717.3(EVC):c.550G>A (p.Asp184Asn)
|
rs41269549
|
0.00194
|
|
NM_153717.3(EVC):c.93C>G (p.Ala31=)
|
rs866226288
|
0.00194
|
|
NM_000349.3(STAR):c.361C>T (p.Arg121Trp)
|
rs34908868
|
0.00193
|
|
NM_000361.3(THBD):c.1502C>T (p.Pro501Leu)
|
rs1800579
|
0.00193
|
|
NM_000553.6(WRN):c.2983G>A (p.Ala995Thr)
|
rs140768346
|
0.00193
|
|
NM_001012339.3(DNAJC21):c.316-8T>G
|
rs182094106
|
0.00193
|
|
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln)
|
rs72648969
|
0.00193
|
|
NM_001330691.3(CEP78):c.1846-1G>C
|
rs146563928
|
0.00193
|
|
NM_002941.4(ROBO1):c.2204G>A (p.Ser735Asn)
|
rs34515208
|
0.00193
|
|
NM_004563.4(PCK2):c.1234+1G>T
|
rs138881435
|
0.00193
|
|
NM_006261.5(PROP1):c.425C>T (p.Ala142Val)
|
rs143790367
|
0.00193
|
|
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=)
|
rs56107171
|
0.00193
|
|
NM_025074.7(FRAS1):c.5374G>A (p.Ala1792Thr)
|
rs150916370
|
0.00193
|
|
NM_181882.3(PRX):c.445G>A (p.Ala149Thr)
|
rs142436391
|
0.00193
|
|
NM_182914.3(SYNE2):c.19964A>T (p.Gln6655Leu)
|
rs149978500
|
0.00193
|
|
NM_207346.3(TSEN54):c.1167G>C (p.Gln389His)
|
rs369805010
|
0.00193
|
|
NM_000018.4(ACADVL):c.1828-4C>G
|
rs184559206
|
0.00192
|
|
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile)
|
rs148399850
|
0.00192
|
|
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu)
|
rs41311117
|
0.00192
|
|
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn)
|
rs143340522
|
0.00192
|
|
NM_001039876.3(SYNE4):c.1102G>A (p.Val368Met)
|
rs141202530
|
0.00192
|
|
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val)
|
rs147641443
|
0.00192
|
|
NM_001254.4(CDC6):c.712A>G (p.Thr238Ala)
|
rs4135010
|
0.00192
|
|
NM_001363.5(DKC1):c.1456G>A (p.Gly486Arg)
|
rs150319104
|
0.00192
|
|
NM_002303.6(LEPR):c.371A>G (p.Asp124Gly)
|
rs35573508
|
0.00192
|
|
NM_004813.4(PEX16):c.204G>T (p.Glu68Asp)
|
rs149348130
|
0.00192
|
|
NM_020223.4(FAM20C):c.252C>A (p.Asn84Lys)
|
rs190382829
|
0.00192
|
|
NM_032119.4(ADGRV1):c.12527+6G>T
|
rs141701016
|
0.00192
|
|
NM_001034853.2(RPGR):c.732G>A (p.Lys244=)
|
rs62638654
|
0.00191
|
|
NM_001193375.3(NDUFA11):c.460G>T (p.Glu154Ter)
|
rs73920081
|
0.00191
|
|
NM_001372106.1(DNAH10):c.11863C>T (p.Arg3955Cys)
|
rs144421774
|
0.00191
|
|
NM_002439.5(MSH3):c.2480A>G (p.His827Arg)
|
rs138339194
|
0.00191
|
|
NM_004994.3(MMP9):c.886G>A (p.Gly296Ser)
|
rs144098289
|
0.00191
|
|
NM_014967.5(FAN1):c.149T>G (p.Met50Arg)
|
rs148404807
|
0.00191
|
|
NM_015087.5(SPART):c.1130A>T (p.Lys377Met)
|
rs148672324
|
0.00191
|
|
NM_015627.3(LDLRAP1):c.672C>T (p.Ser224=)
|
rs41291054
|
0.00191
|
|
NM_016239.4(MYO15A):c.4033A>T (p.Ile1345Leu)
|
rs201234482
|
0.00191
|
|
NM_018475.5(TMEM165):c.294C>T (p.Val98=)
|
rs11542641
|
0.00191
|
|
NM_024306.5(FA2H):c.1113G>C (p.Thr371=)
|
rs140017632
|
0.00191
|
|
NM_031427.4(DNAL1):c.415C>G (p.Leu139Val)
|
rs141873943
|
0.00191
|
|
NM_138289.4(ACTRT1):c.547dup (p.Met183fs)
|
rs771087307
|
0.00191
|
|
NM_138773.4(SLC25A46):c.742A>C (p.Ile248Leu)
|
rs149585060
|
0.00191
|
|
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser)
|
rs148939995
|
0.00191
|
|
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=)
|
rs141235641
|
0.00191
|
|
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu)
|
rs149287302
|
0.00190
|
|
NM_001080472.4(FITM2):c.773A>G (p.Asp258Gly)
|
rs142318812
|
0.00190
|
|
NM_001102608.3(COL6A6):c.4300G>T (p.Gly1434Ter)
|
rs140872639
|
0.00190
|
|
NM_001127649.3(PEX26):c.325T>C (p.Tyr109His)
|
rs45567240
|
0.00190
|
|
NM_001605.3(AARS1):c.2521-3C>T
|
rs200586605
|
0.00190
|
|
NM_003647.3(DGKE):c.1679A>G (p.Gln560Arg)
|
rs61751972
|
0.00190
|
|
NM_004727.3(SLC24A1):c.2778C>T (p.Pro926=)
|
rs117685425
|
0.00190
|
|
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr)
|
rs1800069
|
0.00190
|
|
NM_022436.3(ABCG5):c.293C>G (p.Ala98Gly)
|
rs145164937
|
0.00190
|
|
NM_024753.5(TTC21B):c.1676T>G (p.Val559Gly)
|
rs149325238
|
0.00190
|
|
NM_033305.3(VPS13A):c.5831-8T>C
|
rs113702270
|
0.00190
|
|
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=)
|
rs146462407
|
0.00190
|
|
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)
|
rs41303255
|
0.00190
|
|
NM_000096.4(CP):c.2571C>T (p.Tyr857=)
|
rs151304828
|
0.00189
|
|
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile)
|
rs56357060
|
0.00189
|
|
NM_001195263.2(PDZD7):c.2719-9C>A
|
rs184247824
|
0.00189
|
|
NM_001204375.2(NPR3):c.1388G>A (p.Arg463Gln)
|
rs41270319
|
0.00189
|
|
NM_001360.3(DHCR7):c.321+10C>T
|
rs377108406
|
0.00189
|
|
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile)
|
rs189806840
|
0.00189
|
|
NM_001377.3(DYNC2H1):c.5334+6G>A
|
rs372964069
|
0.00189
|
|
NM_005609.4(PYGM):c.330C>T (p.Asp110=)
|
rs114742918
|
0.00189
|
|
NM_006059.4(LAMC3):c.4130C>T (p.Thr1377Ile)
|
rs144662546
|
0.00189
|
|
NM_019040.5(ELP4):c.*3904G>A
|
rs3026397
|
0.00189
|
|
NM_144991.3(TSPEAR):c.343G>A (p.Asp115Asn)
|
rs144586270
|
0.00189
|
|
NM_198488.5(FAM83H):c.601C>T (p.Gln201Ter)
|
rs189033490
|
0.00189
|
|
NM_000027.4(AGA):c.436T>G (p.Leu146Val)
|
rs146381591
|
0.00188
|
|
NM_000027.4(AGA):c.623-7C>T
|
rs201125635
|
0.00188
|
|
NM_000124.4(ERCC6):c.1274A>C (p.Asp425Ala)
|
rs4253046
|
0.00188
|
|
NM_000245.4(MET):c.1715G>A (p.Ser572Asn)
|
rs199771406
|
0.00188
|
|
NM_000249.4(MLH1):c.790+10A>G
|
rs182733777
|
0.00188
|
|
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser)
|
rs191692293
|
0.00188
|
|
NM_001277115.2(DNAH11):c.58C>A (p.Arg20Ser)
|
rs72655967
|
0.00188
|
|
NM_002335.4(LRP5):c.1801+675A>G
|
rs555106014
|
0.00188
|
|
NM_002485.5(NBN):c.283G>A (p.Asp95Asn)
|
rs61753720
|
0.00188
|
|
NM_016341.4(PLCE1):c.1567A>G (p.Ile523Val)
|
rs61751494
|
0.00188
|
|
NM_080424.4(SP110):c.584-10C>G
|
rs148591984
|
0.00188
|
|
NM_139285.4(GAS2L2):c.1441G>A (p.Ala481Thr)
|
rs143921323
|
0.00188
|
|
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala)
|
rs140191346
|
0.00188
|
|
NM_000554.6(CRX):c.253-15G>A
|
rs145805694
|
0.00187
|
|
NM_001127178.3(PIGG):c.724G>A (p.Val242Met)
|
rs144411585
|
0.00187
|
|
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile)
|
rs149881695
|
0.00187
|
|
NM_001256715.2(DNAAF3):c.832G>A (p.Ala278Thr)
|
rs200775946
|
0.00187
|
|
NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val)
|
rs35193202
|
0.00187
|
|
NM_002529.4(NTRK1):c.157G>C (p.Asp53His)
|
rs200815412
|
0.00187
|
|
NM_020549.5(CHAT):c.1248C>T (p.Asn416=)
|
rs116071049
|
0.00187
|
|
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)
|
rs139998038
|
0.00187
|
|
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)
|
rs183655276
|
0.00187
|
|
NM_052859.4(RFT1):c.5G>A (p.Gly2Asp)
|
rs185366134
|
0.00187
|
|
NM_152384.3(BBS5):c.584A>G (p.Asp195Gly)
|
rs143191074
|
0.00187
|
|
NM_153006.3(NAGS):c.374C>A (p.Thr125Lys)
|
rs185863881
|
0.00187
|
|
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln)
|
rs149304901
|
0.00187
|
|
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)
|
rs56128736
|
0.00186
|
|
NM_000096.4(CP):c.2793A>G (p.Leu931=)
|
rs34987997
|
0.00186
|
|
NM_000166.6(GJB1):c.235C>T (p.Leu79=)
|
rs144717157
|
0.00186
|
|
NM_000199.5(SGSH):c.1283G>A (p.Arg428His)
|
rs144862290
|
0.00186
|
|
NM_000572.3(IL10):c.43G>A (p.Gly15Arg)
|
rs145922845
|
0.00186
|
|
NM_000709.4(BCKDHA):c.485-28G>A
|
rs114178789
|
0.00186
|
|
NM_001271938.2(MEGF8):c.8176C>T (p.Arg2726Cys)
|
rs141224456
|
0.00186
|
|
NM_003872.3(NRP2):c.1000C>T (p.Arg334Cys)
|
rs114144673
|
0.00186
|
|
NM_006412.4(AGPAT2):c.340C>T (p.Arg114Cys)
|
rs142145391
|
0.00186
|
|
NM_020207.7(ERCC6L2):c.1140G>C (p.Leu380Phe)
|
rs150328847
|
0.00186
|
|
NM_203395.3(IYD):c.604G>A (p.Ala202Thr)
|
rs146905706
|
0.00186
|
|
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=)
|
rs61748519
|
0.00185
|
|
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe)
|
rs141798874
|
0.00185
|
|
NM_001126108.2(SLC12A3):c.1980C>T (p.Asp660=)
|
rs201519016
|
0.00185
|
|
NM_001267550.2(TTN):c.81539T>C (p.Ile27180Thr)
|
rs182126530
|
0.00185
|
|
NM_001308093.3(GATA4):c.*1168T>C
|
rs549543886
|
0.00185
|
|
NM_001367624.2(ZNF469):c.10700G>A (p.Gly3567Glu)
|
rs199610834
|
0.00185
|
|
NM_001369.3(DNAH5):c.10294G>T (p.Val3432Leu)
|
rs143251588
|
0.00185
|
|
NM_001369.3(DNAH5):c.10323G>A (p.Met3441Ile)
|
rs149133845
|
0.00185
|
|
NM_002742.3(PRKD1):c.1356C>T (p.Thr452=)
|
rs147948478
|
0.00185
|
|
NM_003000.3(SDHB):c.32G>A (p.Arg11His)
|
rs111430410
|
0.00185
|
|
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn)
|
rs3821945
|
0.00185
|
|
NM_006892.4(DNMT3B):c.608C>T (p.Pro203Leu)
|
rs147945634
|
0.00185
|
|
NM_007254.4(PNKP):c.416G>A (p.Arg139His)
|
rs34472250
|
0.00185
|
|
NM_014780.5(CUL7):c.2645G>A (p.Arg882Gln)
|
rs45574335
|
0.00185
|
|
NM_019032.6(ADAMTSL4):c.584C>T (p.Pro195Leu)
|
rs139990606
|
0.00185
|
|
NM_020745.4(AARS2):c.1084A>T (p.Met362Leu)
|
rs147091256
|
0.00185
|
|
NM_020759.3(STARD9):c.1655G>T (p.Arg552Leu)
|
rs202074007
|
0.00185
|
|
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=)
|
rs377118941
|
0.00185
|
|
NM_130398.4(EXO1):c.2212-1G>C
|
rs4150000
|
0.00185
|
|
NM_130398.4(EXO1):c.820G>A (p.Gly274Arg)
|
rs149397534
|
0.00185
|
|
NM_173630.4(RTTN):c.5883G>A (p.Leu1961=)
|
rs35313369
|
0.00185
|
|
NM_181882.3(PRX):c.2254G>A (p.Glu752Lys)
|
rs147587689
|
0.00185
|
|
NM_000135.4(FANCA):c.694A>C (p.Arg232=)
|
rs61757384
|
0.00184
|
|
NM_000251.3(MSH2):c.23C>T (p.Thr8Met)
|
rs17217716
|
0.00184
|
|
NM_000301.5(PLG):c.1259G>A (p.Gly420Asp)
|
rs139071351
|
0.00184
|
|
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)
|
rs72648247
|
0.00184
|
|
NM_001329943.3(KIAA0586):c.698G>A (p.Arg233Lys)
|
rs193056942
|
0.00184
|
|
NM_001365276.2(TNXB):c.1047C>G (p.Gly349=)
|
rs369785145
|
0.00184
|
|
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys)
|
rs141168110
|
0.00184
|
|
NM_001371596.2(MFSD8):c.590G>A (p.Gly197Asp)
|
rs28544073
|
0.00184
|
|
NM_003835.4(RGS9):c.313A>G (p.Thr105Ala)
|
rs200798153
|
0.00184
|
|
NM_015404.4(WHRN):c.1627-5T>A
|
rs187221008
|
0.00184
|
|
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly)
|
rs55999987
|
0.00184
|
|
NM_000306.4(POU1F1):c.370A>G (p.Met124Val)
|
rs143373007
|
0.00183
|
|
NM_000350.3(ABCA4):c.2588-12C>G
|
rs61751396
|
0.00183
|
|
NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=)
|
rs147884766
|
0.00183
|
|
NM_000350.3(ABCA4):c.838A>T (p.Met280Leu)
|
rs138682163
|
0.00183
|
|
NM_000417.3(IL2RA):c.272C>T (p.Thr91Met)
|
rs72650666
|
0.00183
|
|
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys)
|
rs111033255
|
0.00183
|
|
NM_000492.4(CFTR):c.1365G>A (p.Ala455=)
|
rs79074685
|
0.00183
|
|
NM_001128840.3(CACNA1D):c.1998G>A (p.Leu666=)
|
rs146747080
|
0.00183
|
|
NM_001195248.2(APTX):c.742T>A (p.Leu248Met)
|
rs141195622
|
0.00183
|
|
NM_001198800.3(ASCC1):c.107A>G (p.Tyr36Cys)
|
rs145940742
|
0.00183
|
|
NM_001363711.2(DUOX2):c.1351G>A (p.Asp451Asn)
|
rs139786814
|
0.00183
|
|
NM_006279.5(ST3GAL3):c.618C>T (p.Arg206=)
|
rs115003742
|
0.00183
|
|
NM_012210.4(TRIM32):c.558G>C (p.Gln186His)
|
rs117599771
|
0.00183
|
|
NM_020366.4(RPGRIP1):c.2376G>A (p.Ser792=)
|
rs185667326
|
0.00183
|
|
NM_032520.5(GNPTG):c.741+5C>T
|
rs201263537
|
0.00183
|
|
NM_203288.2(RP9):c.34G>A (p.Ala12Thr)
|
rs775870239
|
0.00183
|
|
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala)
|
rs28897710
|
0.00182
|
|
NM_000558.5(HBA1):c.95+38C>T
|
rs556086584
|
0.00182
|
|
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr)
|
rs202215735
|
0.00182
|
|
NM_001130823.3(DNMT1):c.150C>T (p.His50=)
|
rs146112081
|
0.00182
|
|
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His)
|
rs201979610
|
0.00182
|
|
NM_001723.7(DST):c.4961C>T (p.Ala1654Val)
|
rs150229184
|
0.00182
|
|
NM_003001.5(SDHC):c.*78G>A
|
rs182629842
|
0.00182
|
|
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val)
|
rs142025324
|
0.00182
|
|
NM_003737.4(DCHS1):c.5567C>A (p.Pro1856His)
|
rs111515657
|
0.00182
|
|
NM_005076.5(CNTN2):c.1656C>A (p.Asp552Glu)
|
rs145352110
|
0.00182
|
|
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=)
|
rs145144233
|
0.00182
|
|
NM_015311.3(OBSL1):c.375G>A (p.Glu125=)
|
rs374656370
|
0.00182
|
|
NM_022124.6(CDH23):c.*68G>C
|
rs527311705
|
0.00182
|
|
NM_024876.4(COQ8B):c.1036-3C>G
|
rs200061712
|
0.00182
|
|
NM_139285.4(GAS2L2):c.1621G>A (p.Val541Ile)
|
rs145313062
|
0.00182
|
|
NM_001081.4(CUBN):c.1681G>A (p.Asp561Asn)
|
rs147449194
|
0.00181
|
|
NM_002180.3(IGHMBP2):c.304G>T (p.Ala102Ser)
|
rs35610053
|
0.00181
|
|
NM_002618.4(PEX13):c.355G>A (p.Val119Ile)
|
rs147707348
|
0.00181
|
|
NM_003114.5(SPAG1):c.2714C>T (p.Ser905Leu)
|
rs142031266
|
0.00181
|
|
NM_003126.4(SPTA1):c.1181A>G (p.Asn394Ser)
|
rs111834376
|
0.00181
|
|
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)
|
rs141093638
|
0.00181
|
|
NM_145207.3(AFG2A):c.896G>T (p.Gly299Val)
|
rs75871497
|
0.00181
|
|
NM_173660.5(DOK7):c.1278C>T (p.Pro426=)
|
rs139468087
|
0.00181
|
|
NM_177965.4(CFAP418):c.512T>G (p.Ile171Arg)
|
rs143893647
|
0.00181
|
|
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu)
|
rs139029314
|
0.00181
|
|
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile)
|
rs143326262
|
0.00181
|
|
NM_000286.3(PEX12):c.451C>T (p.Arg151Cys)
|
rs138731505
|
0.00180
|
|
NM_000349.3(STAR):c.687G>A (p.Pro229=)
|
rs35852516
|
0.00180
|
|
NM_000539.3(RHO):c.480C>A (p.Thr160=)
|
rs151063543
|
0.00180
|
|
NM_000787.4(DBH):c.1444G>A (p.Gly482Arg)
|
rs41316996
|
0.00180
|
|
NM_001164508.2(NEB):c.18579+6T>C
|
rs116189169
|
0.00180
|
|
NM_001171.6(ABCC6):c.1263C>T (p.Thr421=)
|
rs114179357
|
0.00180
|
|
NM_001195263.2(PDZD7):c.2411C>T (p.Ala804Val)
|
rs397516635
|
0.00180
|
|
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg)
|
rs121908919
|
0.00180
|
|
NM_001369.3(DNAH5):c.9244C>A (p.Leu3082Ile)
|
rs147372600
|
0.00180
|
|
NM_001369.3(DNAH5):c.9941G>A (p.Arg3314His)
|
rs143858741
|
0.00180
|
|
NM_004771.4(MMP20):c.389C>T (p.Thr130Ile)
|
rs61730849
|
0.00180
|
|
NM_005559.4(LAMA1):c.6354C>T (p.Val2118=)
|
rs150849018
|
0.00180
|
|
NM_015261.3(NCAPD3):c.4129C>T (p.Pro1377Ser)
|
rs150526752
|
0.00180
|
|
NM_017721.5(CC2D1A):c.314C>T (p.Ala105Val)
|
rs192358667
|
0.00180
|
|
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg)
|
rs137917233
|
0.00180
|
|
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys)
|
rs61760163
|
0.00179
|
|
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)
|
rs139007661
|
0.00179
|
|
NM_001127649.3(PEX26):c.200A>G (p.Asn67Ser)
|
rs201884779
|
0.00179
|
|
NM_001127649.3(PEX26):c.409G>C (p.Val137Leu)
|
rs142648687
|
0.00179
|
|
NM_001684.5(ATP2B4):c.2819A>G (p.Lys940Arg)
|
rs138580420
|
0.00179
|
|
NM_001918.5(DBT):c.753C>T (p.Asp251=)
|
rs79292123
|
0.00179
|
|
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr)
|
rs145007501
|
0.00179
|
|
NM_005220.3(DLX3):c.710A>G (p.Tyr237Cys)
|
rs142563930
|
0.00179
|
|
NM_005422.4(TECTA):c.701A>G (p.Gln234Arg)
|
rs144682235
|
0.00179
|
|
NM_006204.4(PDE6C):c.2082G>A (p.Met694Ile)
|
rs150112560
|
0.00179
|
|
NM_020427.3(SLURP1):c.310T>C (p.Ter104Arg)
|
rs62636565
|
0.00179
|
|
NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser)
|
rs144200355
|
0.00179
|
|
NM_000129.4(F13A1):c.1730C>T (p.Thr577Met)
|
rs143711562
|
0.00178
|
|
NM_000152.5(GAA):c.2332-12A>T
|
rs200965268
|
0.00178
|
|
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly)
|
rs61754024
|
0.00178
|
|
NM_000441.2(SLC26A4):c.416-7T>C
|
rs111033387
|
0.00178
|
|
NM_000780.4(CYP7A1):c.38C>T (p.Ala13Val)
|
rs147162838
|
0.00178
|
|
NM_001042413.2(GLIS3):c.232C>G (p.Arg78Gly)
|
rs148168366
|
0.00178
|
|
NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val)
|
rs144215383
|
0.00178
|
|
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile)
|
rs36021462
|
0.00178
|
|
NM_001378778.1(MPDZ):c.511C>G (p.Gln171Glu)
|
rs181479224
|
0.00178
|
|
NM_001384474.1(LOXHD1):c.1617G>A (p.Met539Ile)
|
rs143142227
|
0.00178
|
|
NM_001879.6(MASP1):c.1442-5C>G
|
rs138989954
|
0.00178
|
|
NM_001999.4(FBN2):c.6551A>T (p.Asn2184Ile)
|
rs149071226
|
0.00178
|
|
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp)
|
rs148041814
|
0.00178
|
|
NM_006208.3(ENPP1):c.2757A>T (p.Pro919=)
|
rs73541508
|
0.00178
|
|
NM_006371.5(CRTAP):c.732C>T (p.Leu244=)
|
rs149119710
|
0.00178
|
|
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)
|
rs140551762
|
0.00178
|
|
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=)
|
rs2234473
|
0.00178
|
|
NM_019616.4(F7):c.64+4C>T
|
rs187128791
|
0.00178
|
|
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)
|
rs77724903
|
0.00178
|
|
NM_020987.5(ANK3):c.9997A>T (p.Thr3333Ser)
|
rs140183285
|
0.00178
|
|
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr)
|
rs141138349
|
0.00178
|
|
NM_138425.4(C12orf57):c.-3C>T
|
rs113296395
|
0.00178
|
|
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln)
|
rs149318176
|
0.00178
|
|
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser)
|
rs145569846
|
0.00178
|
|
NM_178452.6(DNAAF1):c.1664A>T (p.Asp555Val)
|
rs145973397
|
0.00178
|
|
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro)
|
rs139834542
|
0.00178
|
|
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)
|
rs116373169
|
0.00177
|
|
NM_001164508.2(NEB):c.22800+9A>G
|
rs144303545
|
0.00177
|
|
NM_001164508.2(NEB):c.23477A>G (p.Asn7826Ser)
|
rs143602832
|
0.00177
|
|
NM_002894.3(RBBP8):c.1367A>G (p.His456Arg)
|
rs139743319
|
0.00177
|
|
NM_002900.3(RBP3):c.3062C>A (p.Ser1021Tyr)
|
rs148591757
|
0.00177
|
|
NM_004646.4(NPHS1):c.3562G>A (p.Ala1188Thr)
|
rs116700257
|
0.00177
|
|
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met)
|
rs142433309
|
0.00177
|
|
NM_014956.5(CEP164):c.3032T>C (p.Leu1011Pro)
|
rs138868323
|
0.00177
|
|
NM_016239.4(MYO15A):c.9754A>G (p.Asn3252Asp)
|
rs147458358
|
0.00177
|
|
NM_018136.5(ASPM):c.5940C>T (p.Tyr1980=)
|
rs150642468
|
0.00177
|
|
NM_019892.6(INPP5E):c.623C>T (p.Thr208Ile)
|
rs143107549
|
0.00177
|
|
NM_020987.5(ANK3):c.10688A>G (p.Glu3563Gly)
|
rs147527383
|
0.00177
|
|
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu)
|
rs61744480
|
0.00177
|
|
NM_181426.2(CCDC39):c.2534T>C (p.Ile845Thr)
|
rs139560004
|
0.00177
|
|
NM_198060.4(NRAP):c.2963A>C (p.Gln988Pro)
|
rs150955833
|
0.00177
|
|
NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr)
|
rs74977201
|
0.00176
|
|
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=)
|
rs200224422
|
0.00176
|
|
NM_000275.3(OCA2):c.1560C>A (p.Leu520=)
|
rs140932222
|
0.00176
|
|
NM_000293.3(PHKB):c.400G>A (p.Asp134Asn)
|
rs144486825
|
0.00176
|
|
NM_000465.4(BARD1):c.33G>T (p.Gln11His)
|
rs143914387
|
0.00176
|
|
NM_000875.5(IGF1R):c.1532G>A (p.Arg511Gln)
|
rs33958176
|
0.00176
|
|
NM_001195263.2(PDZD7):c.971G>A (p.Ser324Asn)
|
rs200592310
|
0.00176
|
|
NM_001355436.2(SPTB):c.5463C>T (p.Pro1821=)
|
rs114513294
|
0.00176
|
|
NM_001375808.2(LPIN2):c.-10+1381T>C
|
rs566304730
|
0.00176
|
|
NM_001879.6(MASP1):c.1528A>G (p.Ser510Gly)
|
rs28945070
|
0.00176
|
|
NM_002691.4(POLD1):c.773C>T (p.Thr258Met)
|
rs76131127
|
0.00176
|
|
NM_003803.4(MYOM1):c.3539A>G (p.Asp1180Gly)
|
rs188319622
|
0.00176
|
|
NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys)
|
rs45496998
|
0.00176
|
|
NM_013296.5(GPSM2):c.2043G>A (p.Ser681=)
|
rs140949805
|
0.00176
|
|
NM_014317.5(PDSS1):c.589A>G (p.Lys197Glu)
|
rs116424900
|
0.00176
|
|
NM_018013.4(SOBP):c.1321C>T (p.Pro441Ser)
|
rs201319446
|
0.00176
|
|
NM_020937.4(FANCM):c.491A>C (p.His164Pro)
|
rs144278051
|
0.00176
|
|
NM_022124.6(CDH23):c.6713-8G>A
|
rs369946986
|
0.00176
|
|
NM_152783.5(D2HGDH):c.423C>T (p.Pro141=)
|
rs142473303
|
0.00176
|
|
NM_173630.4(RTTN):c.3048G>A (p.Pro1016=)
|
rs149233888
|
0.00176
|
|
NM_000173.7(GP1BA):c.206C>T (p.Pro69Leu)
|
rs138825640
|
0.00175
|
|
NM_000233.4(LHCGR):c.568C>A (p.Gln190Lys)
|
rs61996318
|
0.00175
|
|
NM_000287.4(PEX6):c.1171G>A (p.Glu391Lys)
|
rs150046979
|
0.00175
|
|
NM_000301.5(PLG):c.1878-6T>C
|
rs192519670
|
0.00175
|
|
NM_000372.5(TYR):c.1366+4A>G
|
rs61754398
|
0.00175
|
|
NM_000426.4(LAMA2):c.1621A>G (p.Ser541Gly)
|
rs141363186
|
0.00175
|
|
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=)
|
rs148108322
|
0.00175
|
|
NM_001034852.3(SMOC1):c.230C>T (p.Pro77Leu)
|
rs143606483
|
0.00175
|
|
NM_001126108.2(SLC12A3):c.1561A>G (p.Ile521Val)
|
rs147046379
|
0.00175
|
|
NM_001142800.2(EYS):c.7737T>C (p.Thr2579=)
|
rs191846522
|
0.00175
|
|
NM_001710.6(CFB):c.724A>C (p.Ile242Leu)
|
rs144812066
|
0.00175
|
|
NM_001813.3(CENPE):c.6928A>G (p.Ile2310Val)
|
rs111281600
|
0.00175
|
|
NM_002253.4(KDR):c.1384T>G (p.Leu462Val)
|
rs56286620
|
0.00175
|
|
NM_002591.4(PCK1):c.413C>T (p.Thr138Ile)
|
rs28359542
|
0.00175
|
|
NM_004629.2(FANCG):c.1638T>C (p.Gly546=)
|
rs45537335
|
0.00175
|
|
NM_005450.6(NOG):c.275G>A (p.Gly92Glu)
|
rs199566527
|
0.00175
|
|
NM_005522.5(HOXA1):c.684A>G (p.Gln228=)
|
rs34462126
|
0.00175
|
|
NM_005609.4(PYGM):c.924C>T (p.Ile308=)
|
rs139726186
|
0.00175
|
|
NM_006059.4(LAMC3):c.1520-6G>A
|
rs192031352
|
0.00175
|
|
NM_007215.4(POLG2):c.122G>A (p.Gly41Glu)
|
rs146504115
|
0.00175
|
|
NM_012144.4(DNAI1):c.81+5del
|
rs200411544
|
0.00175
|
|
NM_015072.5(TTLL5):c.2603-3T>C
|
rs185326652
|
0.00175
|
|
NM_020949.3(SLC7A14):c.821C>T (p.Thr274Ile)
|
rs116040996
|
0.00175
|
|
NM_025137.4(SPG11):c.6759C>G (p.Asp2253Glu)
|
rs141818132
|
0.00175
|
|
NM_182943.3(PLOD2):c.1639T>C (p.Tyr547His)
|
rs115199093
|
0.00175
|
|
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala)
|
rs61754030
|
0.00174
|
|
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val)
|
rs180922748
|
0.00174
|
|
NM_001875.5(CPS1):c.783C>T (p.Ile261=)
|
rs142468138
|
0.00174
|
|
NM_002181.4(IHH):c.1051G>A (p.Val351Met)
|
rs143959492
|
0.00174
|
|
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys)
|
rs150759461
|
0.00174
|
|
NM_004970.3(IGFALS):c.1436G>A (p.Gly479Asp)
|
rs182305760
|
0.00174
|
|
NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val)
|
rs59190330
|
0.00174
|
|
NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe)
|
rs2920791
|
0.00174
|
|
NM_000268.4(NF2):c.1123-6C>T
|
rs147898623
|
0.00173
|
|
NM_000349.3(STAR):c.141G>A (p.Thr47=)
|
rs147318238
|
0.00173
|
|
NM_000392.5(ABCC2):c.4430C>T (p.Thr1477Met)
|
rs142573385
|
0.00173
|
|
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met)
|
rs117422805
|
0.00173
|
|
NM_000426.4(LAMA2):c.6279C>T (p.Ala2093=)
|
rs141190803
|
0.00173
|
|
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln)
|
rs150734270
|
0.00173
|
|
NM_000520.6(HEXA):c.346+13C>T
|
rs200871198
|
0.00173
|
|
NM_001025603.2(RFX5):c.233+4G>C
|
rs2233846
|
0.00173
|
|
NM_001126049.2(KLLN):c.339_340del (p.Ala115fs)
|
rs749052307
|
0.00173
|
|
NM_001151.4(SLC25A4):c.490A>G (p.Ile164Val)
|
rs143511445
|
0.00173
|
|
NM_001384474.1(LOXHD1):c.3090G>A (p.Thr1030=)
|
rs113994614
|
0.00173
|
|
NM_001953.5(TYMP):c.1290G>A (p.Arg430=)
|
rs570574111
|
0.00173
|
|
NM_002529.4(NTRK1):c.10G>A (p.Gly4Ser)
|
rs556840308
|
0.00173
|
|
NM_004560.4(ROR2):c.2395C>T (p.Pro799Ser)
|
rs141235720
|
0.00173
|
|
NM_012254.3(SLC27A5):c.1229G>A (p.Gly410Glu)
|
rs149709084
|
0.00173
|
|
NM_014339.7(IL17RA):c.1493C>T (p.Thr498Ile)
|
rs41529049
|
0.00173
|
|
NM_016138.5(COQ7):c.545A>G (p.His182Arg)
|
rs139931303
|
0.00173
|
|
NM_018062.4(FANCL):c.963T>A (p.Asp321Glu)
|
rs140088149
|
0.00173
|
|
NM_021957.4(GYS2):c.1553A>C (p.Glu518Ala)
|
rs150433001
|
0.00173
|
|
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His)
|
rs143032801
|
0.00173
|
|
NM_144508.5(KNL1):c.5271C>T (p.Cys1757=)
|
rs191249840
|
0.00173
|
|
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)
|
rs146077918
|
0.00172
|
|
NM_000384.3(APOB):c.905-16A>C
|
rs12720810
|
0.00172
|
|
NM_000532.5(PCCB):c.49C>A (p.Leu17Met)
|
rs200185747
|
0.00172
|
|
NM_000834.5(GRIN2B):c.*1230G>C
|
rs151270374
|
0.00172
|
|
NM_001089.3(ABCA3):c.2125C>T (p.Arg709Trp)
|
rs148671332
|
0.00172
|
|
NM_001105247.2(ARMC5):c.2192C>G (p.Pro731Arg)
|
rs200951744
|
0.00172
|
|
NM_001366722.1(GRIP1):c.3207C>T (p.Pro1069=)
|
rs187691546
|
0.00172
|
|
NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met)
|
rs184458982
|
0.00172
|
|
NM_001369.3(DNAH5):c.3734G>A (p.Arg1245His)
|
rs77939839
|
0.00172
|
|
NM_001377.3(DYNC2H1):c.5047C>T (p.Leu1683Phe)
|
rs201563576
|
0.00172
|
|
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val)
|
rs138544311
|
0.00172
|
|
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg)
|
rs61736380
|
0.00172
|
|
NM_004279.3(PMPCB):c.1336A>G (p.Asn446Asp)
|
rs144744182
|
0.00172
|
|
NM_005876.5(SPEG):c.3998C>T (p.Thr1333Met)
|
rs76811720
|
0.00172
|
|
NM_006348.5(COG5):c.50G>T (p.Gly17Val)
|
rs139763861
|
0.00172
|
|
NM_016729.3(FOLR1):c.508G>A (p.Ala170Thr)
|
rs139633601
|
0.00172
|
|
NM_020717.5(SHROOM4):c.3611A>G (p.Glu1204Gly)
|
rs148721221
|
0.00172
|
|
NM_147686.4(TRAF3IP2):c.819C>G (p.His273Gln)
|
rs144405088
|
0.00172
|
|
NM_182914.3(SYNE2):c.9230C>T (p.Pro3077Leu)
|
rs200742016
|
0.00172
|
|
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu)
|
rs149109801
|
0.00172
|
|
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met)
|
rs56136489
|
0.00172
|
|
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr)
|
rs140992177
|
0.00171
|
|
NM_000081.4(LYST):c.3683A>G (p.Asn1228Ser)
|
rs145553827
|
0.00171
|
|
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu)
|
rs2227624
|
0.00171
|
|
NM_000492.4(CFTR):c.2260G>A (p.Val754Met)
|
rs150157202
|
0.00171
|
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00171
|
|
NM_000550.3(TYRP1):c.70G>A (p.Ala24Thr)
|
rs61758405
|
0.00171
|
|
NM_001178015.2(SLC4A10):c.3166C>G (p.Gln1056Glu)
|
rs142943771
|
0.00171
|
|
NM_001256545.2(MEGF10):c.3216G>C (p.Arg1072Ser)
|
rs75783175
|
0.00171
|
|
NM_001277115.2(DNAH11):c.4001T>C (p.Ile1334Thr)
|
rs72657309
|
0.00171
|
|
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=)
|
rs188336294
|
0.00171
|
|
NM_002296.4(LBR):c.866G>A (p.Gly289Glu)
|
rs148541545
|
0.00171
|
|
NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser)
|
rs113667224
|
0.00171
|
|
NM_002875.5(RAD51):c.449G>A (p.Arg150Gln)
|
rs121917739
|
0.00171
|
|
NM_004525.3(LRP2):c.12725A>G (p.Asp4242Gly)
|
rs35942532
|
0.00171
|
|
NM_004618.5(TOP3A):c.604G>A (p.Asp202Asn)
|
rs117856165
|
0.00171
|
|
NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys)
|
rs139165033
|
0.00171
|
|
NM_022132.5(MCCC2):c.1217-7C>G
|
rs148369119
|
0.00171
|
|
NM_025233.7(COASY):c.802C>T (p.Pro268Ser)
|
rs143964295
|
0.00171
|
|
NM_138295.5(PKD1L1):c.6949C>T (p.Arg2317Trp)
|
rs139293796
|
0.00171
|
|
NM_153717.3(EVC):c.934G>A (p.Asp312Asn)
|
rs115275195
|
0.00171
|
|
NM_000037.4(ANK1):c.2830G>A (p.Ala944Thr)
|
rs35797405
|
0.00170
|
|
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His)
|
rs75419644
|
0.00170
|
|
NM_001025356.3(ANO6):c.1274G>A (p.Arg425Gln)
|
rs142960268
|
0.00170
|
|
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met)
|
rs72773422
|
0.00170
|
|
NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser)
|
rs45592239
|
0.00170
|
|
NM_001364905.1(LRBA):c.2637G>A (p.Lys879=)
|
rs138956153
|
0.00170
|
|
NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser)
|
rs61733140
|
0.00170
|
|
NM_004625.4(WNT7A):c.555C>T (p.Asn185=)
|
rs149363953
|
0.00170
|
|
NM_006231.4(POLE):c.4523G>A (p.Arg1508His)
|
rs142508245
|
0.00170
|
|
NM_014363.6(SACS):c.2988A>G (p.Leu996=)
|
rs111846884
|
0.00170
|
|
NM_014780.5(CUL7):c.2614G>A (p.Gly872Ser)
|
rs61750320
|
0.00170
|
|
NM_015425.6(POLR1A):c.2017C>G (p.Pro673Ala)
|
rs191928354
|
0.00170
|
|
NM_018451.5(CENPJ):c.1021T>G (p.Tyr341Asp)
|
rs143258862
|
0.00170
|
|
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln)
|
rs115113440
|
0.00170
|
|
NM_025074.7(FRAS1):c.7622A>G (p.Asn2541Ser)
|
rs144530996
|
0.00170
|
|
NM_153676.4(USH1C):c.674+4G>A
|
rs202095395
|
0.00170
|
|
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val)
|
rs117360770
|
0.00170
|
|
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln)
|
rs144800506
|
0.00170
|
|
NM_203447.4(DOCK8):c.3460C>T (p.Arg1154Cys)
|
rs34390308
|
0.00170
|
|
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)
|
rs1800059
|
0.00169
|
|
NM_000433.4(NCF2):c.1081A>T (p.Thr361Ser)
|
rs147744729
|
0.00169
|
|
NM_000553.6(WRN):c.1717A>G (p.Thr573Ala)
|
rs150148567
|
0.00169
|
|
NM_000969.5(RPL5):c.325-11T>G
|
rs145058455
|
0.00169
|
|
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)
|
rs117985576
|
0.00169
|
|
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=)
|
rs56077602
|
0.00169
|
|
NM_003126.4(SPTA1):c.748C>T (p.Arg250Cys)
|
rs143459302
|
0.00169
|
|
NM_003859.3(DPM1):c.40C>T (p.Arg14Trp)
|
rs117175017
|
0.00169
|
|
NM_005051.3(QARS1):c.1426G>A (p.Val476Ile)
|
rs144092780
|
0.00169
|
|
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=)
|
rs116541276
|
0.00169
|
|
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr)
|
rs143578698
|
0.00169
|
|
NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr)
|
rs58173258
|
0.00169
|
|
NM_022041.4(GAN):c.1445C>T (p.Ala482Val)
|
rs146576740
|
0.00169
|
|
NM_033641.4(COL4A6):c.2371G>A (p.Gly791Ser)
|
rs143895379
|
0.00169
|
|
NM_213599.3(ANO5):c.2698A>C (p.Met900Leu)
|
rs148293985
|
0.00169
|
|
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg)
|
rs55969723
|
0.00168
|
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
|
NM_000369.5(TSHR):c.357T>A (p.Pro119=)
|
rs144084915
|
0.00168
|
|
NM_001081.4(CUBN):c.10119C>A (p.Val3373=)
|
rs139596037
|
0.00168
|
|
NM_001093.4(ACACB):c.5362G>A (p.Val1788Met)
|
rs143901792
|
0.00168
|
|
NM_001130987.2(DYSF):c.3403-10G>A
|
rs116733194
|
0.00168
|
|
NM_001206927.2(DNAH8):c.13823C>T (p.Thr4608Met)
|
rs142438011
|
0.00168
|
|
NM_001370298.3(FGD4):c.1777C>A (p.Pro593Thr)
|
rs138160928
|
0.00168
|
|
NM_001371986.1(UNC80):c.4141C>G (p.Pro1381Ala)
|
rs192242889
|
0.00168
|
|
NM_001378609.3(OTOGL):c.6968G>A (p.Arg2323Gln)
|
rs143495342
|
0.00168
|
|
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=)
|
rs373924055
|
0.00168
|
|
NM_001852.4(COL9A2):c.2019G>A (p.Ser673=)
|
rs148008235
|
0.00168
|
|
NM_003647.3(DGKE):c.465-3C>T
|
rs375726408
|
0.00168
|
|
NM_004817.4(TJP2):c.185C>T (p.Thr62Met)
|
rs138241615
|
0.00168
|
|
NM_005559.4(LAMA1):c.5794C>G (p.Leu1932Val)
|
rs115759032
|
0.00168
|
|
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg)
|
rs147317123
|
0.00168
|
|
NM_014714.4(IFT140):c.3993G>C (p.Gln1331His)
|
rs35823417
|
0.00168
|
|
NM_016239.4(MYO15A):c.6785G>A (p.Arg2262His)
|
rs200623501
|
0.00168
|
|
NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter)
|
rs71352737
|
0.00168
|
|
NM_020779.4(WDR35):c.2066G>A (p.Arg689His)
|
rs74470618
|
0.00168
|
|
NM_024589.3(ROGDI):c.822+8C>T
|
rs376868221
|
0.00168
|
|
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=)
|
rs111033445
|
0.00168
|
|
NM_130797.4(DPP6):c.1711A>C (p.Lys571Gln)
|
rs140460765
|
0.00168
|
|
NM_198506.5(LRIT3):c.1455C>T (p.Ala485=)
|
rs149304853
|
0.00168
|
|
NM_000159.4(GCDH):c.271+3G>A
|
rs75430014
|
0.00167
|
|
NM_001128228.3(TPRN):c.1261C>T (p.Pro421Ser)
|
rs72763296
|
0.00167
|
|
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu)
|
rs151071780
|
0.00167
|
|
NM_001384732.1(CPLANE1):c.8790C>T (p.Ser2930=)
|
rs148005445
|
0.00167
|
|
NM_001723.7(DST):c.4060C>A (p.Gln1354Lys)
|
rs35599167
|
0.00167
|
|
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr)
|
rs80116829
|
0.00167
|
|
NM_004035.7(ACOX1):c.497A>G (p.Asn166Ser)
|
rs145056278
|
0.00167
|
|
NM_006214.4(PHYH):c.1010_1012dup (p.Asn337_Leu338insHis)
|
rs566116760
|
0.00167
|
|
NM_030928.4(CDT1):c.900G>C (p.Gln300His)
|
rs143149360
|
0.00167
|
|
NM_033100.4(CDHR1):c.1071C>T (p.Ser357=)
|
rs146588811
|
0.00167
|
|
NM_178452.6(DNAAF1):c.1567G>A (p.Val523Ile)
|
rs148387367
|
0.00167
|
|
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=)
|
rs147947402
|
0.00167
|
|
NM_000051.4(ATM):c.609C>T (p.Asp203=)
|
rs144709948
|
0.00166
|
|
NM_000135.4(FANCA):c.3584G>A (p.Arg1195Gln)
|
rs138013482
|
0.00166
|
|
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp)
|
rs201580493
|
0.00166
|
|
NM_001145306.2(CDK6):c.328G>A (p.Asp110Asn)
|
rs35654944
|
0.00166
|
|
NM_001164508.2(NEB):c.4466G>A (p.Gly1489Asp)
|
rs74482326
|
0.00166
|
|
NM_001497.4(B4GALT1):c.259C>T (p.Pro87Ser)
|
rs149181384
|
0.00166
|
|
NM_002693.3(POLG):c.1837C>T (p.His613Tyr)
|
rs147407423
|
0.00166
|
|
NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln)
|
rs72659383
|
0.00166
|
|
NM_005276.4(GPD1):c.612G>A (p.Lys204=)
|
rs35256655
|
0.00166
|
|
NM_005689.4(ABCB6):c.574C>T (p.Arg192Trp)
|
rs149202834
|
0.00166
|
|
NM_015175.3(NBEAL2):c.7658G>A (p.Gly2553Glu)
|
rs144664865
|
0.00166
|
|
NM_015268.4(DNAJC13):c.5684C>T (p.Thr1895Met)
|
rs145242123
|
0.00166
|
|
NM_016953.4(PDE11A):c.1825G>A (p.Asp609Asn)
|
rs77934668
|
0.00166
|
|
NM_017563.5(IL17RD):c.878C>T (p.Pro293Leu)
|
rs150457965
|
0.00166
|
|
NM_020812.4(DOCK6):c.4862T>C (p.Val1621Ala)
|
rs201738818
|
0.00166
|
|
NM_030777.4(SLC2A10):c.-15C>T
|
rs377142129
|
0.00166
|
|
NM_033100.4(CDHR1):c.526-7C>G
|
rs190906755
|
0.00166
|
|
NM_144666.3(DNHD1):c.5617C>A (p.Arg1873Ser)
|
rs575635539
|
0.00166
|
|
NM_000051.4(ATM):c.7788+8G>T
|
rs112775908
|
0.00165
|
|
NM_000293.3(PHKB):c.1574C>A (p.Pro525His)
|
rs79509460
|
0.00165
|
|
NM_000293.3(PHKB):c.574A>G (p.Ile192Val)
|
rs117218785
|
0.00165
|
|
NM_000426.4(LAMA2):c.1308T>G (p.Gly436=)
|
rs41285286
|
0.00165
|
|
NM_000426.4(LAMA2):c.7640G>A (p.Gly2547Glu)
|
rs115488979
|
0.00165
|
|
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys)
|
rs144157950
|
0.00165
|
|
NM_001041.4(SI):c.1111G>A (p.Val371Met)
|
rs138434001
|
0.00165
|
|
NM_001142800.2(EYS):c.6535A>G (p.Ile2179Val)
|
rs148019592
|
0.00165
|
|
NM_001164508.2(NEB):c.4206T>A (p.Asn1402Lys)
|
rs201169452
|
0.00165
|
|
NM_001193313.2(SUGCT):c.126A>C (p.Glu42Asp)
|
rs193023834
|
0.00165
|
|
NM_001286445.3(RIPOR2):c.3133A>G (p.Thr1045Ala)
|
rs373913240
|
0.00165
|
|
NM_005216.5(DDOST):c.1148C>T (p.Thr383Ile)
|
rs145940009
|
0.00165
|
|
NM_018993.4(RIN2):c.1427C>G (p.Pro476Arg)
|
rs35142632
|
0.00165
|
|
NM_020919.4(ALS2):c.1816-8C>T
|
rs185911369
|
0.00165
|
|
NM_025137.4(SPG11):c.3436A>G (p.Ile1146Val)
|
rs114945876
|
0.00165
|
|
NM_130810.4(DNAAF4):c.881A>T (p.Lys294Met)
|
rs116339967
|
0.00165
|
|
NM_177438.3(DICER1):c.20A>G (p.Gln7Arg)
|
rs117358479
|
0.00165
|
|
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)
|
rs45629132
|
0.00164
|
|
NM_000426.4(LAMA2):c.7111T>G (p.Phe2371Val)
|
rs150644209
|
0.00164
|
|
NM_000448.3(RAG1):c.725A>G (p.Gln242Arg)
|
rs76897604
|
0.00164
|
|
NM_001276270.2(MBD4):c.1382A>G (p.Asn461Ser)
|
rs78782061
|
0.00164
|
|
NM_003193.5(TBCE):c.394G>A (p.Val132Ile)
|
rs144448831
|
0.00164
|
|
NM_003701.4(TNFSF11):c.214G>A (p.Ala72Thr)
|
rs142756983
|
0.00164
|
|
NM_004525.3(LRP2):c.4351G>T (p.Val1451Phe)
|
rs146289506
|
0.00164
|
|
NM_016953.4(PDE11A):c.155G>C (p.Arg52Thr)
|
rs77972073
|
0.00164
|
|
NM_017721.5(CC2D1A):c.1357-2A>C
|
rs200557641
|
0.00164
|
|
NM_173630.4(RTTN):c.2804A>G (p.His935Arg)
|
rs145832674
|
0.00164
|
|
NM_201384.3(PLEC):c.2551G>A (p.Val851Met)
|
rs200647397
|
0.00164
|
|
NM_201548.5(CERKL):c.27G>A (p.Arg9=)
|
rs368855330
|
0.00164
|
|
NM_000057.4(BLM):c.2268A>G (p.Lys756=)
|
rs146013879
|
0.00163
|
|
NM_000135.4(FANCA):c.1471-12A>G
|
rs9282684
|
0.00163
|
|
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile)
|
rs148091558
|
0.00163
|
|
NM_000298.6(PKLR):c.814C>G (p.Leu272Val)
|
rs147659527
|
0.00163
|
|
NM_000532.5(PCCB):c.774C>G (p.His258Gln)
|
rs141615209
|
0.00163
|
|
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val)
|
rs193922855
|
0.00163
|
|
NM_001036.6(RYR3):c.10698G>A (p.Thr3566=)
|
rs200309704
|
0.00163
|
|
NM_001042413.2(GLIS3):c.1191G>C (p.Gln397His)
|
rs138497710
|
0.00163
|
|
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=)
|
rs191125006
|
0.00163
|
|
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys)
|
rs141399869
|
0.00163
|
|
NM_001253852.3(AP4B1):c.755T>C (p.Val252Ala)
|
rs141417436
|
0.00163
|
|
NM_001277115.2(DNAH11):c.8533C>G (p.Arg2845Gly)
|
rs121908854
|
0.00163
|
|
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His)
|
rs200473652
|
0.00163
|
|
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro)
|
rs149096794
|
0.00163
|
|
NM_001382567.1(STIM1):c.1664C>T (p.Ser555Phe)
|
rs141215990
|
0.00163
|
|
NM_001482.3(GATM):c.669T>C (p.Tyr223=)
|
rs151231277
|
0.00163
|
|
NM_002900.3(RBP3):c.418G>A (p.Gly140Ser)
|
rs34932849
|
0.00163
|
|
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp)
|
rs45568335
|
0.00163
|
|
NM_013435.3(RAX):c.290-4C>A
|
rs200338566
|
0.00163
|
|
NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu)
|
rs35641267
|
0.00163
|
|
NM_080911.3(UNG):c.533+6G>A
|
rs55812333
|
0.00163
|
|
NM_138295.5(PKD1L1):c.3475T>C (p.Tyr1159His)
|
rs111983425
|
0.00163
|
|
NM_138694.4(PKHD1):c.8951-13C>T
|
rs112249812
|
0.00163
|
|
NM_144631.6(ZNF513):c.290C>T (p.Ala97Val)
|
rs35554630
|
0.00163
|
|
NM_153717.3(EVC):c.1500G>A (p.Met500Ile)
|
rs149898884
|
0.00163
|
|
NM_198271.5(LMOD3):c.1190A>G (p.Gln397Arg)
|
rs199592188
|
0.00163
|
|
NM_201548.5(CERKL):c.820+9G>A
|
rs189638090
|
0.00163
|
|
NM_000036.3(AMPD1):c.334G>A (p.Val112Met)
|
rs61741025
|
0.00162
|
|
NM_000071.3(CBS):c.1059G>A (p.Thr353=)
|
rs61735859
|
0.00162
|
|
NM_000096.4(CP):c.2684G>C (p.Gly895Ala)
|
rs139633388
|
0.00162
|
|
NM_001164508.2(NEB):c.9071C>T (p.Ala3024Val)
|
rs143933602
|
0.00162
|
|
NM_001369268.1(ACAN):c.5368T>A (p.Ser1790Thr)
|
rs201149160
|
0.00162
|
|
NM_001946.4(DUSP6):c.545C>T (p.Ser182Phe)
|
rs139318648
|
0.00162
|
|
NM_003906.5(MCM3AP):c.1267A>G (p.Thr423Ala)
|
rs144151494
|
0.00162
|
|
NM_006019.4(TCIRG1):c.90C>T (p.Gly30=)
|
rs141859450
|
0.00162
|
|
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln)
|
rs151272083
|
0.00162
|
|
NM_032409.3(PINK1):c.165G>A (p.Glu55=)
|
rs537679886
|
0.00162
|
|
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp)
|
rs145499142
|
0.00162
|
|
NM_144508.5(KNL1):c.4379T>C (p.Ile1460Thr)
|
rs187007187
|
0.00162
|
|
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile)
|
rs149871493
|
0.00162
|
|
NM_000152.5(GAA):c.-312C>T
|
rs574326920
|
0.00161
|
|
NM_001083961.2(WDR62):c.253G>A (p.Val85Met)
|
rs146274964
|
0.00161
|
|
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp)
|
rs139879284
|
0.00161
|
|
NM_001370298.3(FGD4):c.666A>T (p.Ala222=)
|
rs139357821
|
0.00161
|
|
NM_001384125.1(BLTP1):c.5194T>C (p.Cys1732Arg)
|
rs75923324
|
0.00161
|
|
NM_003126.4(SPTA1):c.7104G>T (p.Lys2368Asn)
|
rs112884419
|
0.00161
|
|
NM_004793.4(LONP1):c.767C>T (p.Ala256Val)
|
rs116591583
|
0.00161
|
|
NM_004946.3(DOCK2):c.4201G>T (p.Ala1401Ser)
|
rs143100569
|
0.00161
|
|
NM_005559.4(LAMA1):c.2900G>A (p.Gly967Asp)
|
rs141851670
|
0.00161
|
|
NM_005609.4(PYGM):c.660G>A (p.Gln220=)
|
rs142234258
|
0.00161
|
|
NM_018238.4(AGK):c.29A>G (p.Asn10Ser)
|
rs35269563
|
0.00161
|
|
NM_020937.4(FANCM):c.171G>C (p.Leu57Phe)
|
rs142007602
|
0.00161
|
|
NM_024753.5(TTC21B):c.2600G>A (p.Arg867His)
|
rs76726265
|
0.00161
|
|
NM_201384.3(PLEC):c.9558A>G (p.Thr3186=)
|
rs201102719
|
0.00161
|
|
NM_213655.5(WNK1):c.2201C>T (p.Pro734Leu)
|
rs564717613
|
0.00161
|
|
NM_000185.4(SERPIND1):c.842T>C (p.Ile281Thr)
|
rs145370736
|
0.00160
|
|
NM_000352.6(ABCC8):c.3399+13G>A
|
rs182340196
|
0.00160
|
|
NM_000567.3(CRP):c.176C>T (p.Thr59Met)
|
rs77832441
|
0.00160
|
|
NM_000642.3(AGL):c.1885G>A (p.Glu629Lys)
|
rs146041189
|
0.00160
|
|
NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp)
|
rs200936863
|
0.00160
|
|
NM_001089.3(ABCA3):c.2268C>T (p.Ala756=)
|
rs143552557
|
0.00160
|
|
NM_001089.3(ABCA3):c.2340C>T (p.His780=)
|
rs45620539
|
0.00160
|
|
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met)
|
rs145988230
|
0.00160
|
|
NM_001244008.2(KIF1A):c.3085G>A (p.Val1029Met)
|
rs183359489
|
0.00160
|
|
NM_001397406.1(FDX2):c.299A>G (p.Asp100Gly)
|
rs142729488
|
0.00160
|
|
NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val)
|
rs184018403
|
0.00160
|
|
NM_004972.4(JAK2):c.3178-12_3178-11insC
|
rs533264615
|
0.00160
|
|
NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe)
|
rs145433186
|
0.00160
|
|
NM_005422.4(TECTA):c.1834G>A (p.Asp612Asn)
|
rs143730090
|
0.00160
|
|
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln)
|
rs149772470
|
0.00160
|
|
NM_005609.4(PYGM):c.1888G>A (p.Val630Met)
|
rs115347245
|
0.00160
|
|
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys)
|
rs116180923
|
0.00160
|
|
NM_005726.6(TSFM):c.797T>A (p.Leu266His)
|
rs146777264
|
0.00160
|
|
NM_012293.3(PXDN):c.2827C>T (p.Arg943Trp)
|
rs200127189
|
0.00160
|
|
NM_018979.4(WNK1):c.1074C>T (p.Thr358=)
|
rs72648621
|
0.00160
|
|
NM_020191.4(MRPS22):c.617C>T (p.Thr206Ile)
|
rs76148008
|
0.00160
|
|
NM_024079.5(ALG8):c.96-6G>C
|
rs199911532
|
0.00160
|
|
NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr)
|
rs77959215
|
0.00160
|
|
NM_024675.4(PALB2):c.400G>A (p.Asp134Asn)
|
rs139555085
|
0.00160
|
|
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val)
|
rs199755408
|
0.00159
|
|
NM_000251.3(MSH2):c.1277-8T>C
|
rs145400590
|
0.00159
|
|
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys)
|
rs112237881
|
0.00159
|
|
NM_000392.5(ABCC2):c.3492C>T (p.Ser1164=)
|
rs144192700
|
0.00159
|
|
NM_000642.3(AGL):c.3764A>G (p.Asn1255Ser)
|
rs138134718
|
0.00159
|
|
NM_000666.3(ACY1):c.1177C>T (p.Arg393Cys)
|
rs6804746
|
0.00159
|
|
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)
|
rs121918799
|
0.00159
|
|
NM_001199799.2(ILDR1):c.227C>T (p.Ala76Val)
|
rs143072070
|
0.00159
|
|
NM_001232.4(CASQ2):c.421-14G>A
|
rs139281637
|
0.00159
|
|
NM_001358530.2(MOCS1):c.1064T>C (p.Ile355Thr)
|
rs143912353
|
0.00159
|
|
NM_001378615.1(CC2D2A):c.2050T>A (p.Leu684Ile)
|
rs190698163
|
0.00159
|
|
NM_001966.4(EHHADH):c.1666A>G (p.Arg556Gly)
|
rs140735525
|
0.00159
|
|
NM_002691.4(POLD1):c.80A>T (p.Asp27Val)
|
rs150066950
|
0.00159
|
|
NM_003482.4(KMT2D):c.10993C>G (p.Pro3665Ala)
|
rs112170602
|
0.00159
|
|
NM_004260.4(RECQL4):c.615C>G (p.Pro205=)
|
rs35639991
|
0.00159
|
|
NM_004431.5(EPHA2):c.2904G>C (p.Gln968His)
|
rs138818894
|
0.00159
|
|
NM_005502.4(ABCA1):c.2543-3C>T
|
rs139457469
|
0.00159
|
|
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg)
|
rs141521925
|
0.00159
|
|
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp)
|
rs200945405
|
0.00159
|
|
NM_032782.5(HAVCR2):c.245A>G (p.Tyr82Cys)
|
rs184868814
|
0.00159
|
|
NM_173689.7(CRB2):c.3128C>T (p.Ser1043Phe)
|
rs35578485
|
0.00159
|
|
NM_201384.3(PLEC):c.2458-8C>T
|
rs201818691
|
0.00159
|
|
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys)
|
rs4987046
|
0.00158
|
|
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala)
|
rs11571747
|
0.00158
|
|
NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu)
|
rs4150319
|
0.00158
|
|
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile)
|
rs3211299
|
0.00158
|
|
NM_000350.3(ABCA4):c.574G>A (p.Ala192Thr)
|
rs61748535
|
0.00158
|
|
NM_000383.4(AIRE):c.1567-5C>T
|
rs192215705
|
0.00158
|
|
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln)
|
rs150555106
|
0.00158
|
|
NM_000760.4(CSF3R):c.1748G>A (p.Arg583His)
|
rs148104401
|
0.00158
|
|
NM_001145715.3(KPNA7):c.1317+3G>A
|
rs138176387
|
0.00158
|
|
NM_001164508.2(NEB):c.9181A>T (p.Met3061Leu)
|
rs143473183
|
0.00158
|
|
NM_001164688.2(RD3):c.494A>C (p.Asp165Ala)
|
rs149051185
|
0.00158
|
|
NM_001298.3(CNGA3):c.740C>T (p.Thr247Met)
|
rs148616345
|
0.00158
|
|
NM_001365276.2(TNXB):c.2030A>G (p.Asp677Gly)
|
rs141190850
|
0.00158
|
|
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys)
|
rs140782270
|
0.00158
|
|
NM_001370259.2(MEN1):c.-20G>A
|
rs386134244
|
0.00158
|
|
NM_001379286.1(ZNF423):c.1655G>T (p.Gly552Val)
|
rs34425379
|
0.00158
|
|
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile)
|
rs193922639
|
0.00158
|
|
NM_014629.4(ARHGEF10):c.1631A>T (p.Gln544Leu)
|
rs148715187
|
0.00158
|
|
NM_016239.4(MYO15A):c.823G>C (p.Gly275Arg)
|
rs183969516
|
0.00158
|
|
NM_022042.4(SLC26A1):c.1906G>T (p.Asp636Tyr)
|
rs146466185
|
0.00158
|
|
NM_022437.3(ABCG8):c.1094C>T (p.Thr365Met)
|
rs140778634
|
0.00158
|
|
NM_024996.7(GFM1):c.788A>G (p.Gln263Arg)
|
rs115984741
|
0.00158
|
|
NM_025009.5(CEP135):c.2767G>A (p.Glu923Lys)
|
rs145959811
|
0.00158
|
|
NM_032578.4(MYPN):c.1790G>A (p.Arg597His)
|
rs150911078
|
0.00158
|
|
NM_152468.5(TMC8):c.1364G>A (p.Arg455Gln)
|
rs151076155
|
0.00158
|
|
NM_170707.4(LMNA):c.1851C>T (p.Ala617=)
|
rs143189394
|
0.00158
|
|
NM_177924.5(ASAH1):c.1004C>T (p.Thr335Met)
|
rs147233112
|
0.00158
|
|
NM_178554.6(KY):c.557T>C (p.Val186Ala)
|
rs188233679
|
0.00158
|
|
NM_178857.6(RP1L1):c.217C>T (p.Pro73Ser)
|
rs202082944
|
0.00158
|
|
NM_201384.3(PLEC):c.1955C>T (p.Thr652Ile)
|
rs190470017
|
0.00158
|
|
NM_000439.5(PCSK1):c.1918A>G (p.Thr640Ala)
|
rs139453594
|
0.00157
|
|
NM_000466.3(PEX1):c.130-9T>C
|
rs377337949
|
0.00157
|
|
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val)
|
rs142679083
|
0.00157
|
|
NM_001135254.2(PAX7):c.335C>T (p.Pro112Leu)
|
rs142754204
|
0.00157
|
|
NM_001206744.2(TPO):c.2715_2724dup (p.Ala909fs)
|
rs554989865
|
0.00157
|
|
NM_001382567.1(STIM1):c.1634+287G>A
|
rs562406813
|
0.00157
|
|
NM_002180.3(IGHMBP2):c.2545G>A (p.Ala849Thr)
|
rs2228208
|
0.00157
|
|
NM_004525.3(LRP2):c.6473A>C (p.Asn2158Thr)
|
rs34052957
|
0.00157
|
|
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr)
|
rs142054672
|
0.00157
|
|
NM_006612.6(KIF1C):c.2299G>A (p.Gly767Arg)
|
rs118037269
|
0.00157
|
|
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys)
|
rs139503476
|
0.00157
|
|
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr)
|
rs200865108
|
0.00157
|
|
NM_018979.4(WNK1):c.6150T>C (p.Leu2050=)
|
rs151331381
|
0.00157
|
|
NM_019066.5(MAGEL2):c.1470G>A (p.Pro490=)
|
rs771501846
|
0.00157
|
|
NM_030787.4(CFHR5):c.622T>C (p.Cys208Arg)
|
rs41299613
|
0.00157
|
|
NM_030928.4(CDT1):c.1546C>T (p.Arg516Cys)
|
rs144721725
|
0.00157
|
|
NM_201525.4(ADGRG1):c.1810C>T (p.Leu604=)
|
rs113358058
|
0.00157
|
|
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)
|
rs45517423
|
0.00156
|
|
NM_000553.6(WRN):c.355+4G>C
|
rs145764920
|
0.00156
|
|
NM_001142864.4(PIEZO1):c.4363G>A (p.Ala1455Thr)
|
rs191656121
|
0.00156
|
|
NM_001142864.4(PIEZO1):c.5728G>A (p.Glu1910Lys)
|
rs200929552
|
0.00156
|
|
NM_001282225.2(ADA2):c.927G>A (p.Met309Ile)
|
rs146597836
|
0.00156
|
|
NM_001370658.1(BTD):c.201C>T (p.Asn67=)
|
rs147057169
|
0.00156
|
|
NM_001377.3(DYNC2H1):c.12366+8A>G
|
rs200404815
|
0.00156
|
|
NM_002838.5(PTPRC):c.3670G>A (p.Val1224Ile)
|
rs150672767
|
0.00156
|
|
NM_003721.4(RFXANK):c.95C>T (p.Ala32Val)
|
rs114064359
|
0.00156
|
|
NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln)
|
rs115961753
|
0.00156
|
|
NM_006517.5(SLC16A2):c.949C>T (p.Arg317Cys)
|
rs144755294
|
0.00156
|
|
NM_012301.4(MAGI2):c.2142G>A (p.Pro714=)
|
rs144574076
|
0.00156
|
|
NM_015175.3(NBEAL2):c.3384+5G>A
|
rs370559049
|
0.00156
|
|
NM_015272.5(RPGRIP1L):c.2153-4G>C
|
rs201380599
|
0.00156
|
|
NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn)
|
rs202196322
|
0.00156
|
|
NM_017721.5(CC2D1A):c.1424C>T (p.Ser475Leu)
|
rs143529486
|
0.00156
|
|
NM_017775.4(TTC19):c.898A>C (p.Ile300Leu)
|
rs143293913
|
0.00156
|
|
NM_017780.4(CHD7):c.2067G>A (p.Thr689=)
|
rs34979623
|
0.00156
|
|
NM_020631.6(PLEKHG5):c.1932T>C (p.Pro644=)
|
rs150807400
|
0.00156
|
|
NM_020800.3(IFT80):c.897G>A (p.Val299=)
|
rs145776235
|
0.00156
|
|
NM_022098.4(XPNPEP3):c.590-8A>G
|
rs143719656
|
0.00156
|
|
NM_032856.5(WDR73):c.935G>A (p.Arg312Gln)
|
rs201294090
|
0.00156
|
|
NM_181426.2(CCDC39):c.880A>G (p.Arg294Gly)
|
rs61733577
|
0.00156
|
|
NM_182961.4(SYNE1):c.7433C>G (p.Ser2478Cys)
|
rs149030452
|
0.00156
|
|
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser)
|
rs148411623
|
0.00155
|
|
NM_000027.4(AGA):c.303A>T (p.Ala101=)
|
rs142449515
|
0.00155
|
|
NM_000443.4(ABCB4):c.712C>G (p.Leu238Val)
|
rs45596335
|
0.00155
|
|
NM_000466.3(PEX1):c.1011G>A (p.Lys337=)
|
rs142018583
|
0.00155
|
|
NM_000529.2(MC2R):c.318C>T (p.Ile106=)
|
rs147706299
|
0.00155
|
|
NM_000552.5(VWF):c.1728G>T (p.Met576Ile)
|
rs150146744
|
0.00155
|
|
NM_001003722.2(GLE1):c.1393T>A (p.Ser465Thr)
|
rs141709685
|
0.00155
|
|
NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val)
|
rs141640975
|
0.00155
|
|
NM_001330078.2(NRXN1):c.1575A>G (p.Arg525=)
|
rs201941844
|
0.00155
|
|
NM_001355436.2(SPTB):c.807T>C (p.Tyr269=)
|
rs115882528
|
0.00155
|
|
NM_001366722.1(GRIP1):c.2381T>G (p.Met794Arg)
|
rs144494437
|
0.00155
|
|
NM_002187.3(IL12B):c.283G>A (p.Glu95Lys)
|
rs56287471
|
0.00155
|
|
NM_002241.5(KCNJ10):c.735C>G (p.Asp245Glu)
|
rs146426296
|
0.00155
|
|
NM_002474.3(MYH11):c.2961C>T (p.Ile987=)
|
rs137988790
|
0.00155
|
|
NM_002528.7(NTHL1):c.503T>C (p.Ile168Thr)
|
rs1805378
|
0.00155
|
|
NM_004004.6(GJB2):c.*3C>A
|
rs111033460
|
0.00155
|
|
NM_006214.4(PHYH):c.356C>T (p.Thr119Met)
|
rs34571629
|
0.00155
|
|
NM_006412.4(AGPAT2):c.359A>G (p.Lys120Arg)
|
rs114782902
|
0.00155
|
|
NM_006767.4(LZTR1):c.1530C>T (p.His510=)
|
rs190714197
|
0.00155
|
|
NM_015311.3(OBSL1):c.1255C>T (p.Arg419Cys)
|
rs79295927
|
0.00155
|
|
NM_016239.4(MYO15A):c.4623G>A (p.Thr1541=)
|
rs926074
|
0.00155
|
|
NM_018036.7(ATG2B):c.653A>G (p.His218Arg)
|
rs199569218
|
0.00155
|
|
NM_018136.5(ASPM):c.9254T>C (p.Ile3085Thr)
|
rs138138436
|
0.00155
|
|
NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser)
|
rs147586703
|
0.00155
|
|
NM_177965.4(CFAP418):c.528A>G (p.Thr176=)
|
rs143748636
|
0.00155
|
|
NM_201384.3(PLEC):c.6198G>T (p.Gln2066His)
|
rs201574539
|
0.00155
|
|
NM_000124.4(ERCC6):c.4223A>C (p.Glu1408Ala)
|
rs61760167
|
0.00154
|
|
NM_000362.5(TIMP3):c.516C>T (p.Phe172=)
|
rs149161075
|
0.00154
|
|
NM_001003787.4(STRADA):c.135G>A (p.Ala45=)
|
rs56163554
|
0.00154
|
|
NM_001848.3(COL6A1):c.2635A>G (p.Ser879Gly)
|
rs140534207
|
0.00154
|
|
NM_001875.5(CPS1):c.1630A>T (p.Thr544Ser)
|
rs144230667
|
0.00154
|
|
NM_003737.4(DCHS1):c.4555C>T (p.Pro1519Ser)
|
rs199544459
|
0.00154
|
|
NM_005045.4(RELN):c.77C>T (p.Ala26Val)
|
rs144557847
|
0.00154
|
|
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter)
|
rs147622517
|
0.00154
|
|
NM_020754.4(ARHGAP31):c.2344C>A (p.Pro782Thr)
|
rs139659618
|
0.00154
|
|
NM_032447.5(FBN3):c.4847G>A (p.Cys1616Tyr)
|
rs141592778
|
0.00154
|
|
NM_138711.6(PPARG):c.150C>T (p.Asp50=)
|
rs112174008
|
0.00154
|
|
NM_000022.4(ADA):c.402C>T (p.Gly134=)
|
rs146921882
|
0.00153
|
|
NM_000040.3(APOC3):c.55+1G>A
|
rs138326449
|
0.00153
|
|
NM_000294.3(PHKG2):c.393G>A (p.Arg131=)
|
rs55751949
|
0.00153
|
|
NM_000302.4(PLOD1):c.77-3358C>T
|
rs534978828
|
0.00153
|
|
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)
|
rs1800552
|
0.00153
|
|
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn)
|
rs142155101
|
0.00153
|
|
NM_000527.5(LDLR):c.498C>T (p.Ala166=)
|
rs10417394
|
0.00153
|
|
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe)
|
rs111671438
|
0.00153
|
|
NM_001330078.2(NRXN1):c.772+1078A>G
|
rs144049982
|
0.00153
|
|
NM_001498.4(GCLC):c.1039G>A (p.Asp347Asn)
|
rs80120302
|
0.00153
|
|
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala)
|
rs142992009
|
0.00153
|
|
NM_003193.5(TBCE):c.194C>A (p.Thr65Lys)
|
rs144747353
|
0.00153
|
|
NM_006269.2(RP1):c.3826C>T (p.Pro1276Ser)
|
rs151316028
|
0.00153
|
|
NM_016239.4(MYO15A):c.1111C>A (p.Pro371Thr)
|
rs200382813
|
0.00153
|
|
NM_018136.5(ASPM):c.4733G>A (p.Arg1578Gln)
|
rs143822761
|
0.00153
|
|
NM_020461.4(TUBGCP6):c.3490G>A (p.Val1164Met)
|
rs9628306
|
0.00153
|
|
NM_022081.6(HPS4):c.1700C>T (p.Ala567Val)
|
rs140234219
|
0.00153
|
|
NM_025137.4(SPG11):c.4744-6T>C
|
rs147550048
|
0.00153
|
|
NM_032242.4(PLXNA1):c.4903A>G (p.Ser1635Gly)
|
rs147504334
|
0.00153
|
|
NM_133259.4(LRPPRC):c.3148+12C>T
|
rs199684766
|
0.00153
|
|
NM_138386.3(NAF1):c.1478A>C (p.Tyr493Ser)
|
rs143001503
|
0.00153
|
|
NM_139315.3(TAF6):c.1396G>T (p.Ala466Ser)
|
rs144875978
|
0.00153
|
|
NM_199242.3(UNC13D):c.227C>T (p.Thr76Met)
|
rs78028658
|
0.00153
|
|
NM_201384.3(PLEC):c.8051G>A (p.Arg2684Gln)
|
rs200239963
|
0.00153
|
|
NM_000327.4(ROM1):c.81G>T (p.Leu27=)
|
rs148196509
|
0.00152
|
|
NM_000533.5(PLP1):c.-31C>T
|
rs2233695
|
0.00152
|
|
NM_000618.5(IGF1):c.207G>A (p.Arg69=)
|
rs147960415
|
0.00152
|
|
NM_000687.4(AHCY):c.853C>T (p.Arg285Trp)
|
rs116846245
|
0.00152
|
|
NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln)
|
rs121912280
|
0.00152
|
|
NM_000789.4(ACE):c.209C>T (p.Ala70Val)
|
rs372565955
|
0.00152
|
|
NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys)
|
rs145709687
|
0.00152
|
|
NM_001374736.1(DST):c.2350C>G (p.Pro784Ala)
|
rs151271595
|
0.00152
|
|
NM_004525.3(LRP2):c.9477G>A (p.Met3159Ile)
|
rs144322413
|
0.00152
|
|
NM_004563.4(PCK2):c.1405C>T (p.Arg469Cys)
|
rs141383988
|
0.00152
|
|
NM_005591.4(MRE11):c.822T>C (p.Leu274=)
|
rs137868143
|
0.00152
|
|
NM_006017.3(PROM1):c.1345G>A (p.Val449Met)
|
rs200620291
|
0.00152
|
|
NM_015662.3(IFT172):c.3073C>G (p.Pro1025Ala)
|
rs61747068
|
0.00152
|
|
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr)
|
rs147494464
|
0.00152
|
|
NM_018965.4(TREM2):c.259G>A (p.Asp87Asn)
|
rs142232675
|
0.00152
|
|
NM_020987.5(ANK3):c.4465C>T (p.Pro1489Ser)
|
rs41274676
|
0.00152
|
|
NM_032415.7(CARD11):c.3019+9C>T
|
rs200741645
|
0.00152
|
|
NM_133259.4(LRPPRC):c.3275+7G>A
|
rs111392631
|
0.00152
|
|
NM_152743.4(BRAT1):c.1828C>T (p.Arg610Trp)
|
rs61753094
|
0.00152
|
|
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)
|
rs181250704
|
0.00151
|
|
NM_001009185.3(ACSL6):c.1652C>T (p.Thr551Met)
|
rs115302912
|
0.00151
|
|
NM_001040436.3(YARS2):c.104C>A (p.Ala35Asp)
|
rs149447502
|
0.00151
|
|
NM_001064.4(TKT):c.1177T>C (p.Phe393Leu)
|
rs138820989
|
0.00151
|
|
NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys)
|
rs185594460
|
0.00151
|
|
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=)
|
rs181099904
|
0.00151
|
|
NM_001159773.2(CANT1):c.56G>A (p.Arg19Gln)
|
rs144060377
|
0.00151
|
|
NM_001160372.4(TRAPPC9):c.1407C>T (p.Tyr469=)
|
rs117632905
|
0.00151
|
|
NM_001171155.2(PET100):c.74A>G (p.Asn25Ser)
|
rs184325854
|
0.00151
|
|
NM_001199397.3(NEK1):c.924T>G (p.Ile308Met)
|
rs10034957
|
0.00151
|
|
NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp)
|
rs35155575
|
0.00151
|
|
NM_001378454.1(ALMS1):c.10079-11C>T
|
rs368250605
|
0.00151
|
|
NM_001519.4(BRF1):c.696G>A (p.Ala232=)
|
rs142328073
|
0.00151
|
|
NM_001905.4(CTPS1):c.1276C>G (p.Pro426Ala)
|
rs139322260
|
0.00151
|
|
NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys)
|
rs114896482
|
0.00151
|
|
NM_004994.3(MMP9):c.773C>T (p.Thr258Ile)
|
rs41529445
|
0.00151
|
|
NM_005993.5(TBCD):c.2566A>G (p.Met856Val)
|
rs202149526
|
0.00151
|
|
NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala)
|
rs148453565
|
0.00151
|
|
NM_014967.5(FAN1):c.2071G>C (p.Glu691Gln)
|
rs111476645
|
0.00151
|
|
NM_015175.3(NBEAL2):c.1634C>T (p.Ser545Leu)
|
rs201749187
|
0.00151
|
|
NM_015275.3(WASHC4):c.2465A>G (p.His822Arg)
|
rs187432521
|
0.00151
|
|
NM_016219.5(MAN1B1):c.1173C>T (p.Ser391=)
|
rs145704211
|
0.00151
|
|
NM_017875.4(SLC25A38):c.11A>G (p.Asn4Ser)
|
rs61995897
|
0.00151
|
|
NM_017950.4(CCDC40):c.856-18G>A
|
rs189118723
|
0.00151
|
|
NM_022081.6(HPS4):c.445A>G (p.Asn149Asp)
|
rs140430822
|
0.00151
|
|
NM_024101.7(MLPH):c.1240G>C (p.Glu414Gln)
|
rs61737688
|
0.00151
|
|
NM_000037.4(ANK1):c.2495G>A (p.Arg832Gln)
|
rs34523608
|
0.00150
|
|
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=)
|
rs145798966
|
0.00150
|
|
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=)
|
rs151125564
|
0.00150
|
|
NM_000426.4(LAMA2):c.8728G>A (p.Val2910Ile)
|
rs141479751
|
0.00150
|
|
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala)
|
rs35122256
|
0.00150
|
|
NM_000637.5(GSR):c.866T>C (p.Val289Ala)
|
rs151187899
|
0.00150
|
|
NM_001080414.4(CCDC88C):c.5251G>A (p.Val1751Ile)
|
rs142295786
|
0.00150
|
|
NM_001128431.4(SLC39A14):c.23C>G (p.Pro8Arg)
|
rs34328787
|
0.00150
|
|
NM_001355436.2(SPTB):c.40C>T (p.Pro14Ser)
|
rs147059670
|
0.00150
|
|
NM_001355436.2(SPTB):c.5651C>T (p.Ala1884Val)
|
rs148337824
|
0.00150
|
|
NM_001372.4(DNAH9):c.12835G>A (p.Gly4279Ser)
|
rs78845357
|
0.00150
|
|
NM_001376256.1(CRYM):c.523G>T (p.Glu175Ter)
|
rs145787995
|
0.00150
|
|
NM_001481.3(GAS8):c.808G>C (p.Ala270Pro)
|
rs141125763
|
0.00150
|
|
NM_001943.5(DSG2):c.166G>A (p.Val56Met)
|
rs121913013
|
0.00150
|
|
NM_001983.4(ERCC1):c.796G>A (p.Ala266Thr)
|
rs3212977
|
0.00150
|
|
NM_002253.4(KDR):c.1615G>A (p.Gly539Arg)
|
rs55716939
|
0.00150
|
|
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=)
|
rs142639688
|
0.00150
|
|
NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys)
|
rs141868117
|
0.00150
|
|
NM_006206.6(PDGFRA):c.2899C>G (p.Leu967Val)
|
rs140943817
|
0.00150
|
|
NM_006446.5(SLCO1B1):c.1332-14T>C
|
rs71581991
|
0.00150
|
|
NM_007255.3(B4GALT7):c.277C>T (p.His93Tyr)
|
rs142476892
|
0.00150
|
|
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile)
|
rs56158747
|
0.00150
|
|
NM_017433.5(MYO3A):c.1275G>A (p.Gln425=)
|
rs77562287
|
0.00150
|
|
NM_018249.6(CDK5RAP2):c.2568G>A (p.Gln856=)
|
rs144723485
|
0.00150
|
|
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)
|
rs140679502
|
0.00150
|
|
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met)
|
rs145804755
|
0.00150
|
|
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg)
|
rs35926225
|
0.00150
|
|
NM_198525.3(KIF7):c.3514C>A (p.Arg1172=)
|
rs138196132
|
0.00150
|
|
NM_198525.3(KIF7):c.3998C>A (p.Pro1333Gln)
|
rs145726393
|
0.00150
|
|
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)
|
rs72552259
|
0.00149
|
|
NM_000359.3(TGM1):c.61A>G (p.Thr21Ala)
|
rs140542428
|
0.00149
|
|
NM_000536.4(RAG2):c.1504A>G (p.Met502Val)
|
rs145614809
|
0.00149
|
|
NM_001177316.2(SLC34A3):c.756G>A (p.Gln252=)
|
rs121918239
|
0.00149
|
|
NM_001242908.2(RSPO1):c.658C>T (p.Arg220Trp)
|
rs182482113
|
0.00149
|
|
NM_001270974.2(HYDIN):c.9223C>T (p.Arg3075Cys)
|
rs199706377
|
0.00149
|
|
NM_001277115.2(DNAH11):c.3466G>A (p.Gly1156Arg)
|
rs183521702
|
0.00149
|
|
NM_001318789.2(TLR2):c.271A>G (p.Ile91Val)
|
rs116232047
|
0.00149
|
|
NM_001365536.1(SCN9A):c.3051G>C (p.Lys1017Asn)
|
rs147623238
|
0.00149
|
|
NM_001384474.1(LOXHD1):c.5023C>T (p.Arg1675Cys)
|
rs201060702
|
0.00149
|
|
NM_001486.4(GCKR):c.1135dup (p.Thr379fs)
|
rs573498430
|
0.00149
|
|
NM_001845.6(COL4A1):c.1466-6C>T
|
rs183563055
|
0.00149
|
|
NM_003322.6(TULP1):c.1297G>A (p.Glu433Lys)
|
rs74461100
|
0.00149
|
|
NM_004793.4(LONP1):c.742G>A (p.Asp248Asn)
|
rs149169865
|
0.00149
|
|
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp)
|
rs142486386
|
0.00149
|
|
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly)
|
rs560874115
|
0.00149
|
|
NM_014363.6(SACS):c.810T>G (p.Phe270Leu)
|
rs116907814
|
0.00149
|
|
NM_020812.4(DOCK6):c.5939+6C>T
|
rs200393834
|
0.00149
|
|
NM_032119.4(ADGRV1):c.15786C>T (p.Phe5262=)
|
rs369083434
|
0.00149
|
|
NM_032380.5(GFM2):c.1234C>T (p.Arg412Cys)
|
rs142425196
|
0.00149
|
|
NM_153614.4(DNAJB13):c.757G>A (p.Asp253Asn)
|
rs140556652
|
0.00149
|
|
NM_000073.3(CD3G):c.158T>C (p.Ile53Thr)
|
rs142915569
|
0.00148
|
|
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro)
|
rs138443479
|
0.00148
|
|
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)
|
rs363847
|
0.00148
|
|
NM_000355.4(TCN2):c.138C>T (p.Ser46=)
|
rs143250551
|
0.00148
|
|
NM_000399.5(EGR2):c.1399G>C (p.Ala467Pro)
|
rs146116229
|
0.00148
|
|
NM_000492.4(CFTR):c.2820T>G (p.Thr940=)
|
rs60887846
|
0.00148
|
|
NM_000553.6(WRN):c.1149G>T (p.Leu383Phe)
|
rs4987238
|
0.00148
|
|
NM_000875.5(IGF1R):c.1336A>G (p.Met446Val)
|
rs117440569
|
0.00148
|
|
NM_001130987.2(DYSF):c.2409+14G>A
|
rs141170955
|
0.00148
|
|
NM_001142800.2(EYS):c.6632C>T (p.Ser2211Leu)
|
rs145623359
|
0.00148
|
|
NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser)
|
rs148072630
|
0.00148
|
|
NM_001353214.3(DYM):c.620+4T>G
|
rs201652921
|
0.00148
|
|
NM_001366722.1(GRIP1):c.1645A>G (p.Ile549Val)
|
rs201867922
|
0.00148
|
|
NM_001379500.1(COL18A1):c.3539G>A (p.Arg1180Gln)
|
rs200484625
|
0.00148
|
|
NM_001457.4(FLNB):c.6683T>C (p.Ile2228Thr)
|
rs149629209
|
0.00148
|
|
NM_003036.4(SKI):c.1196C>T (p.Ala399Val)
|
rs141862996
|
0.00148
|
|
NM_003865.2(HESX1):c.-276T>G
|
rs983243
|
0.00148
|
|
NM_005076.5(CNTN2):c.1405C>A (p.Pro469Thr)
|
rs147693556
|
0.00148
|
|
NM_005142.3(CBLIF):c.154T>A (p.Tyr52Asn)
|
rs144916324
|
0.00148
|
|
NM_005566.4(LDHA):c.439G>T (p.Ala147Ser)
|
rs116841148
|
0.00148
|
|
NM_012418.4(FSCN2):c.1230C>T (p.Asp410=)
|
rs182593453
|
0.00148
|
|
NM_018451.5(CENPJ):c.646T>C (p.Cys216Arg)
|
rs143260721
|
0.00148
|
|
NM_020207.7(ERCC6L2):c.163T>G (p.Leu55Val)
|
rs141719745
|
0.00148
|
|
NM_145200.5(CABP4):c.155G>A (p.Arg52Gln)
|
rs145789542
|
0.00148
|
|
NM_000426.4(LAMA2):c.1782+14T>C
|
rs191215452
|
0.00147
|
|
NM_000426.4(LAMA2):c.74C>T (p.Pro25Leu)
|
rs145310035
|
0.00147
|
|
NM_001042413.2(GLIS3):c.496C>G (p.Pro166Ala)
|
rs141467694
|
0.00147
|
|
NM_001042472.3(ABHD12):c.1113G>A (p.Arg371=)
|
rs146028040
|
0.00147
|
|
NM_001093.4(ACACB):c.2872G>A (p.Val958Met)
|
rs139511102
|
0.00147
|
|
NM_001127217.3(SMAD9):c.788G>A (p.Arg263Gln)
|
rs78249575
|
0.00147
|
|
NM_001142864.4(PIEZO1):c.2409G>C (p.Gln803His)
|
rs200029740
|
0.00147
|
|
NM_001160372.4(TRAPPC9):c.3421G>A (p.Val1141Met)
|
rs140157207
|
0.00147
|
|
NM_001267550.2(TTN):c.11254+2T>C
|
rs199565715
|
0.00147
|
|
NM_001298.3(CNGA3):c.198C>T (p.Thr66=)
|
rs139544302
|
0.00147
|
|
NM_001350162.2(TEX15):c.9223G>A (p.Gly3075Arg)
|
rs150606321
|
0.00147
|
|
NM_001355436.2(SPTB):c.5750C>T (p.Ser1917Phe)
|
rs149678681
|
0.00147
|
|
NM_001365308.1(BMPER):c.220A>G (p.Asn74Asp)
|
rs144030074
|
0.00147
|
|
NM_001366722.1(GRIP1):c.1756A>C (p.Ile586Leu)
|
rs189438534
|
0.00147
|
|
NM_001369268.1(ACAN):c.230G>A (p.Arg77His)
|
rs199701329
|
0.00147
|
|
NM_002291.3(LAMB1):c.1945G>A (p.Asp649Asn)
|
rs142386151
|
0.00147
|
|
NM_002476.2(MYL4):c.167T>C (p.Phe56Ser)
|
rs144870368
|
0.00147
|
|
NM_004183.4(BEST1):c.637-6C>T
|
rs62639356
|
0.00147
|
|
NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His)
|
rs182139018
|
0.00147
|
|
NM_006660.5(CLPX):c.1463T>C (p.Ile488Thr)
|
rs35754835
|
0.00147
|
|
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=)
|
rs4986844
|
0.00147
|
|
NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn)
|
rs147588666
|
0.00147
|
|
NM_015404.4(WHRN):c.1048C>T (p.Arg350Trp)
|
rs142990800
|
0.00147
|
|
NM_015627.3(LDLRAP1):c.605C>A (p.Ser202Tyr)
|
rs121908326
|
0.00147
|
|
NM_015909.4(NBAS):c.4358G>A (p.Cys1453Tyr)
|
rs148644578
|
0.00147
|
|
NM_020937.4(FANCM):c.1576C>G (p.Leu526Val)
|
rs144215747
|
0.00147
|
|
NM_023083.4(CAPN10):c.959C>T (p.Pro320Leu)
|
rs140681762
|
0.00147
|
|
NM_024876.4(COQ8B):c.344T>C (p.Met115Thr)
|
rs148374624
|
0.00147
|
|
NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe)
|
rs139334167
|
0.00147
|
|
NM_144991.3(TSPEAR):c.1566+5G>A
|
rs117034581
|
0.00147
|
|
NM_145725.3(TRAF3):c.352C>T (p.Arg118Trp)
|
rs143813189
|
0.00147
|
|
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn)
|
rs146366996
|
0.00147
|
|
NM_194318.4(B3GLCT):c.1371A>G (p.Gln457=)
|
rs114941150
|
0.00147
|
|
NM_198129.4(LAMA3):c.8851C>T (p.Arg2951Cys)
|
rs61752346
|
0.00147
|
|
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp)
|
rs61734354
|
0.00146
|
|
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu)
|
rs80358600
|
0.00146
|
|
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr)
|
rs77820367
|
0.00146
|
|
NM_001082538.3(TCTN1):c.1471A>T (p.Ile491Phe)
|
rs201894544
|
0.00146
|
|
NM_001083614.2(EARS2):c.1045G>A (p.Glu349Lys)
|
rs187662524
|
0.00146
|
|
NM_001278182.2(EOMES):c.436C>T (p.Leu146Phe)
|
rs200215171
|
0.00146
|
|
NM_001363711.2(DUOX2):c.598G>A (p.Gly200Arg)
|
rs2467827
|
0.00146
|
|
NM_001365276.2(TNXB):c.2945C>T (p.Thr982Ile)
|
rs199569974
|
0.00146
|
|
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu)
|
rs147688221
|
0.00146
|
|
NM_001374385.1(ATP8B1):c.150A>G (p.Glu50=)
|
rs137973298
|
0.00146
|
|
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys)
|
rs199573929
|
0.00146
|
|
NM_002241.5(KCNJ10):c.136G>A (p.Asp46Asn)
|
rs141553756
|
0.00146
|
|
NM_002591.4(PCK1):c.1642G>A (p.Ala548Thr)
|
rs148684857
|
0.00146
|
|
NM_003361.4(UMOD):c.1375C>T (p.Arg459Trp)
|
rs139607138
|
0.00146
|
|
NM_005732.4(RAD50):c.379G>A (p.Val127Ile)
|
rs28903086
|
0.00146
|
|
NM_006379.5(SEMA3C):c.688C>T (p.Pro230Ser)
|
rs138522639
|
0.00146
|
|
NM_006901.4(MYO9A):c.3257G>A (p.Arg1086His)
|
rs75986913
|
0.00146
|
|
NM_007074.4(CORO1A):c.1189G>A (p.Val397Ile)
|
rs35967690
|
0.00146
|
|
NM_012144.4(DNAI1):c.47A>G (p.Gln16Arg)
|
rs148701985
|
0.00146
|
|
NM_015272.5(RPGRIP1L):c.640G>A (p.Val214Ile)
|
rs139067427
|
0.00146
|
|
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly)
|
rs200211587
|
0.00146
|
|
NM_031471.6(FERMT3):c.527C>T (p.Ala176Val)
|
rs113348354
|
0.00146
|
|
NM_032409.3(PINK1):c.1231G>A (p.Gly411Ser)
|
rs45478900
|
0.00146
|
|
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg)
|
rs149781976
|
0.00146
|
|
NM_144997.7(FLCN):c.871+16T>A
|
rs116643153
|
0.00146
|
|
NM_206933.4(USH2A):c.486-15C>T
|
rs114194722
|
0.00146
|
|
NM_000208.4(INSR):c.2838C>G (p.Asp946Glu)
|
rs146588336
|
0.00145
|
|
NM_000398.7(CYB5R3):c.890G>A (p.Arg297His)
|
rs76458556
|
0.00145
|
|
NM_000433.4(NCF2):c.113G>A (p.Arg38Gln)
|
rs147415774
|
0.00145
|
|
NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys)
|
rs140630401
|
0.00145
|
|
NM_001164508.2(NEB):c.22878C>A (p.Ala7626=)
|
rs185574478
|
0.00145
|
|
NM_001201543.2(FAM161A):c.2064T>C (p.Ile688=)
|
rs138464813
|
0.00145
|
|
NM_001291303.3(FAT4):c.5275A>G (p.Ile1759Val)
|
rs145639192
|
0.00145
|
|
NM_001543.5(NDST1):c.239G>A (p.Arg80His)
|
rs145390254
|
0.00145
|
|
NM_002485.5(NBN):c.511A>G (p.Ile171Val)
|
rs61754966
|
0.00145
|
|
NM_004168.4(SDHA):c.136A>G (p.Lys46Glu)
|
rs144599870
|
0.00145
|
|
NM_004817.4(TJP2):c.61-6A>T
|
rs200415824
|
0.00145
|
|
NM_005502.4(ABCA1):c.3542C>T (p.Ser1181Phe)
|
rs76881554
|
0.00145
|
|
NM_005957.5(MTHFR):c.1761C>T (p.Ala587=)
|
rs115049252
|
0.00145
|
|
NM_013296.5(GPSM2):c.1739C>T (p.Ser580Leu)
|
rs79730689
|
0.00145
|
|
NM_014264.5(PLK4):c.17G>A (p.Gly6Glu)
|
rs149003893
|
0.00145
|
|
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile)
|
rs149051060
|
0.00145
|
|
NM_015275.3(WASHC4):c.878G>A (p.Arg293Gln)
|
rs35267264
|
0.00145
|
|
NM_018341.3(ERMARD):c.1246G>A (p.Val416Ile)
|
rs143351214
|
0.00145
|
|
NM_020433.5(JPH2):c.637C>T (p.Arg213Trp)
|
rs767328866
|
0.00145
|
|
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met)
|
rs144701688
|
0.00145
|
|
NM_022095.4(ZNF335):c.1418G>A (p.Arg473His)
|
rs137901051
|
0.00145
|
|
NM_022436.3(ABCG5):c.957C>T (p.Ser319=)
|
rs146131711
|
0.00145
|
|
NM_025137.4(SPG11):c.16G>A (p.Gly6Arg)
|
rs200573434
|
0.00145
|
|
NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met)
|
rs146954342
|
0.00145
|
|
NM_033100.4(CDHR1):c.1461G>A (p.Gly487=)
|
rs141787212
|
0.00145
|
|
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu)
|
rs142526715
|
0.00145
|
|
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile)
|
rs147851214
|
0.00145
|
|
NM_181741.4(ORC4):c.1090G>A (p.Val364Ile)
|
rs138876526
|
0.00145
|
|
NM_000130.5(F5):c.5054C>G (p.Thr1685Ser)
|
rs6011
|
0.00144
|
|
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile)
|
rs139061260
|
0.00144
|
|
NM_001127208.3(TET2):c.521C>A (p.Pro174His)
|
rs146031219
|
0.00144
|
|
NM_001134831.2(AHI1):c.2714G>C (p.Cys905Ser)
|
rs199879855
|
0.00144
|
|
NM_001267550.2(TTN):c.85406C>G (p.Ser28469Cys)
|
rs202040332
|
0.00144
|
|
NM_001848.3(COL6A1):c.588+8C>G
|
rs398123638
|
0.00144
|
|
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu)
|
rs147674615
|
0.00144
|
|
NM_002185.5(IL7R):c.778G>A (p.Ala260Thr)
|
rs147153824
|
0.00144
|
|
NM_003846.3(PEX11B):c.483A>G (p.Gly161=)
|
rs148000769
|
0.00144
|
|
NM_005562.3(LAMC2):c.889A>G (p.Thr297Ala)
|
rs143817389
|
0.00144
|
|
NM_006019.4(TCIRG1):c.482C>T (p.Pro161Leu)
|
rs34227834
|
0.00144
|
|
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser)
|
rs79474211
|
0.00144
|
|
NM_024301.5(FKRP):c.567C>T (p.Pro189=)
|
rs201454433
|
0.00144
|
|
NM_152564.5(VPS13B):c.3116T>C (p.Met1039Thr)
|
rs140015545
|
0.00144
|
|
NM_182476.3(COQ6):c.395A>G (p.Asp132Gly)
|
rs45496292
|
0.00144
|
|
NM_198525.3(KIF7):c.3842G>T (p.Ser1281Ile)
|
rs143877028
|
0.00144
|
|
NM_000030.3(AGXT):c.866G>A (p.Arg289His)
|
rs61729604
|
0.00143
|
|
NM_000098.3(CPT2):c.932A>G (p.Asn311Ser)
|
rs142790440
|
0.00143
|
|
NM_000436.4(OXCT1):c.1491C>T (p.Asp497=)
|
rs144283422
|
0.00143
|
|
NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=)
|
rs2230029
|
0.00143
|
|
NM_000642.3(AGL):c.1875G>T (p.Thr625=)
|
rs141944878
|
0.00143
|
|
NM_001017995.3(SH3PXD2B):c.1955C>T (p.Thr652Met)
|
rs148050566
|
0.00143
|
|
NM_001166108.2(PALLD):c.731A>G (p.Gln244Arg)
|
rs114946738
|
0.00143
|
|
NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu)
|
rs146264035
|
0.00143
|
|
NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser)
|
rs200992277
|
0.00143
|
|
NM_001458.5(FLNC):c.6714C>T (p.Thr2238=)
|
rs10268251
|
0.00143
|
|
NM_003079.5(SMARCE1):c.1079G>A (p.Gly360Asp)
|
rs142193069
|
0.00143
|
|
NM_004004.6(GJB2):c.380G>A (p.Arg127His)
|
rs111033196
|
0.00143
|
|
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp)
|
rs145933612
|
0.00143
|
|
NM_004525.3(LRP2):c.7406A>G (p.Asp2469Gly)
|
rs116507519
|
0.00143
|
|
NM_012301.4(MAGI2):c.219C>T (p.Pro73=)
|
rs148240352
|
0.00143
|
|
NM_014639.4(SKIC3):c.2275C>T (p.Leu759Phe)
|
rs145496449
|
0.00143
|
|
NM_024809.5(TCTN2):c.615C>T (p.Gly205=)
|
rs147485641
|
0.00143
|
|
NM_032415.7(CARD11):c.2301C>T (p.Asp767=)
|
rs144358235
|
0.00143
|
|
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr)
|
rs117502839
|
0.00143
|
|
NM_173560.4(RFX6):c.1733G>C (p.Arg578Pro)
|
rs146115506
|
0.00143
|
|
NM_181741.4(ORC4):c.353T>C (p.Leu118Ser)
|
rs61750441
|
0.00143
|
|
NM_198859.4(PRICKLE2):c.788-6T>C
|
rs180903875
|
0.00143
|
|
NM_201253.3(CRB1):c.2307C>T (p.Arg769=)
|
rs151104285
|
0.00143
|
|
NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met)
|
rs55698015
|
0.00142
|
|
NM_000326.5(RLBP1):c.141+6G>A
|
rs181321141
|
0.00142
|
|
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp)
|
rs149202766
|
0.00142
|
|
NM_001032283.3(TMPO):c.565+1696C>T
|
rs141443652
|
0.00142
|
|
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu)
|
rs141155976
|
0.00142
|
|
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser)
|
rs80338805
|
0.00142
|
|
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln)
|
rs187003641
|
0.00142
|
|
NM_003737.4(DCHS1):c.1493G>A (p.Arg498Gln)
|
rs150834672
|
0.00142
|
|
NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys)
|
rs61757671
|
0.00142
|
|
NM_006348.5(COG5):c.1776T>C (p.Ala592=)
|
rs142970891
|
0.00142
|
|
NM_006949.4(STXBP2):c.1455C>T (p.Asp485=)
|
rs146425381
|
0.00142
|
|
NM_015425.6(POLR1A):c.1097C>T (p.Ser366Phe)
|
rs183490100
|
0.00142
|
|
NM_016239.4(MYO15A):c.54G>A (p.Lys18=)
|
rs144909486
|
0.00142
|
|
NM_018344.6(SLC29A3):c.687C>T (p.Ser229=)
|
rs113542201
|
0.00142
|
|
NM_021728.4(OTX2):c.-119-101C>T
|
rs534764707
|
0.00142
|
|
NM_022436.3(ABCG5):c.50T>G (p.Val17Gly)
|
rs72542427
|
0.00142
|
|
NM_031407.7(HUWE1):c.5091A>G (p.Gly1697=)
|
rs149893977
|
0.00142
|
|
NM_139125.4(MASP1):c.674A>G (p.Asn225Ser)
|
rs145045341
|
0.00142
|
|
NM_000059.4(BRCA2):c.9634G>C (p.Gly3212Arg)
|
rs55775473
|
0.00141
|
|
NM_000213.5(ITGB4):c.4489C>T (p.Arg1497Cys)
|
rs148205043
|
0.00141
|
|
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr)
|
rs199813223
|
0.00141
|
|
NM_001080453.3(INTS1):c.6248T>G (p.Phe2083Cys)
|
rs201675191
|
0.00141
|
|
NM_001089.3(ABCA3):c.839G>A (p.Arg280His)
|
rs143008553
|
0.00141
|
|
NM_001145026.2(PTPRQ):c.6586A>G (p.Met2196Val)
|
rs200166814
|
0.00141
|
|
NM_001256447.2(BCAP31):c.383C>T (p.Thr128Met)
|
rs111450526
|
0.00141
|
|
NM_001355436.2(SPTB):c.3679C>T (p.Pro1227Ser)
|
rs149186357
|
0.00141
|
|
NM_001374736.1(DST):c.21538A>G (p.Met7180Val)
|
rs200006386
|
0.00141
|
|
NM_001382347.1(MYO5A):c.5093C>T (p.Ser1698Leu)
|
rs9282796
|
0.00141
|
|
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe)
|
rs144590904
|
0.00141
|
|
NM_002471.4(MYH6):c.5400C>T (p.Asp1800=)
|
rs144329079
|
0.00141
|
|
NM_003383.5(VLDLR):c.902G>A (p.Arg301Gln)
|
rs139671268
|
0.00141
|
|
NM_005732.4(RAD50):c.943G>T (p.Val315Leu)
|
rs28903090
|
0.00141
|
|
NM_006567.5(FARS2):c.506A>T (p.Asp169Val)
|
rs146356199
|
0.00141
|
|
NM_014254.3(RXYLT1):c.252C>T (p.Ser84=)
|
rs141095352
|
0.00141
|
|
NM_014915.3(ANKRD26):c.3007G>A (p.Glu1003Lys)
|
rs41304587
|
0.00141
|
|
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg)
|
rs572671060
|
0.00141
|
|
NM_017721.5(CC2D1A):c.2372G>A (p.Arg791Gln)
|
rs200354654
|
0.00141
|
|
NM_017775.4(TTC19):c.146C>T (p.Pro49Leu)
|
rs537063695
|
0.00141
|
|
NM_020812.4(DOCK6):c.133G>A (p.Val45Ile)
|
rs183060698
|
0.00141
|
|
NM_144672.4(OTOA):c.2417A>C (p.Tyr806Ser)
|
rs464691
|
0.00141
|
|
NM_201384.3(PLEC):c.8660A>G (p.Lys2887Arg)
|
rs201655861
|
0.00141
|
|
NM_207361.6(FREM2):c.5642-9T>C
|
rs148794835
|
0.00141
|
|
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu)
|
rs142551229
|
0.00140
|
|
NM_000089.4(COL1A2):c.1350+11A>T
|
rs193922160
|
0.00140
|
|
NM_000130.5(F5):c.2222A>G (p.Asn741Ser)
|
rs144979314
|
0.00140
|
|
NM_000130.5(F5):c.4589A>C (p.Glu1530Ala)
|
rs6007
|
0.00140
|
|
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu)
|
rs147493628
|
0.00140
|
|
NM_000301.5(PLG):c.1469G>A (p.Arg490Gln)
|
rs140537724
|
0.00140
|
|
NM_000431.4(MVK):c.924C>T (p.Leu308=)
|
rs72648042
|
0.00140
|
|
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln)
|
rs112414325
|
0.00140
|
|
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=)
|
rs200660642
|
0.00140
|
|
NM_001164508.2(NEB):c.19626T>C (p.Asp6542=)
|
rs190336010
|
0.00140
|
|
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser)
|
rs193224180
|
0.00140
|
|
NM_001291303.3(FAT4):c.3424G>A (p.Val1142Met)
|
rs202188213
|
0.00140
|
|
NM_001292063.2(OTOG):c.311A>G (p.Asn104Ser)
|
rs534942001
|
0.00140
|
|
NM_001355436.2(SPTB):c.2881G>A (p.Val961Ile)
|
rs149316006
|
0.00140
|
|
NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg)
|
rs753664726
|
0.00140
|
|
NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val)
|
rs200466720
|
0.00140
|
|
NM_001379500.1(COL18A1):c.2849G>A (p.Arg950His)
|
rs202106628
|
0.00140
|
|
NM_001384140.1(PCDH15):c.4801G>A (p.Gly1601Ser)
|
rs181306086
|
0.00140
|
|
NM_004820.5(CYP7B1):c.1464G>A (p.Leu488=)
|
rs114797034
|
0.00140
|
|
NM_005186.4(CAPN1):c.1474G>A (p.Gly492Arg)
|
rs17883283
|
0.00140
|
|
NM_006096.4(NDRG1):c.31G>A (p.Ala11Thr)
|
rs145871479
|
0.00140
|
|
NM_006214.4(PHYH):c.244C>G (p.Arg82Gly)
|
rs145404396
|
0.00140
|
|
NM_014244.5(ADAMTS2):c.139+4G>A
|
rs1023653032
|
0.00140
|
|
NM_014727.3(KMT2B):c.2268_2279dup (p.Gln759_Pro762dup)
|
rs564202766
|
0.00140
|
|
NM_014844.5(TECPR2):c.623C>T (p.Thr208Ile)
|
rs144870163
|
0.00140
|
|
NM_015294.6(TRIM37):c.1919G>A (p.Arg640His)
|
rs112762655
|
0.00140
|
|
NM_018451.5(CENPJ):c.656C>T (p.Pro219Leu)
|
rs139844197
|
0.00140
|
|
NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys)
|
rs200510462
|
0.00140
|
|
NM_032119.4(ADGRV1):c.10260C>T (p.Phe3420=)
|
rs113938044
|
0.00140
|
|
NM_080911.3(UNG):c.246G>C (p.Leu82=)
|
rs144083363
|
0.00140
|
|
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser)
|
rs41273722
|
0.00140
|
|
NM_173483.4(CYP4F22):c.463C>T (p.His155Tyr)
|
rs141382984
|
0.00140
|
|
NM_198578.4(LRRK2):c.356T>C (p.Leu119Pro)
|
rs33995463
|
0.00140
|
|
NM_000018.4(ACADVL):c.1606-22C>T
|
rs370303265
|
0.00139
|
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00139
|
|
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser)
|
rs118203742
|
0.00139
|
|
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp)
|
rs143002265
|
0.00139
|
|
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys)
|
rs145062583
|
0.00139
|
|
NM_000601.6(HGF):c.137C>T (p.Ala46Val)
|
rs150267054
|
0.00139
|
|
NM_001353345.2(SETD1B):c.3587T>A (p.Val1196Glu)
|
rs188280904
|
0.00139
|
|
NM_001365276.2(TNXB):c.6649C>A (p.Pro2217Thr)
|
rs142409885
|
0.00139
|
|
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp)
|
rs148720124
|
0.00139
|
|
NM_001557.4(CXCR2):c.458G>A (p.Arg153His)
|
rs55799208
|
0.00139
|
|
NM_004525.3(LRP2):c.2178G>T (p.Leu726Phe)
|
rs144451000
|
0.00139
|
|
NM_015488.5(PNKD):c.265G>A (p.Gly89Arg)
|
rs147259983
|
0.00139
|
|
NM_016169.4(SUFU):c.910+14C>T
|
rs202247757
|
0.00139
|
|
NM_033100.4(CDHR1):c.1553+6T>C
|
rs199567321
|
0.00139
|
|
NM_138420.4(AHNAK2):c.1198G>A (p.Gly400Ser)
|
rs140752229
|
0.00139
|
|
NM_182914.3(SYNE2):c.15928T>C (p.Leu5310=)
|
rs74975380
|
0.00139
|
|
NM_000043.6(FAS):c.580G>A (p.Glu194Lys)
|
rs56006128
|
0.00138
|
|
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu)
|
rs55816687
|
0.00138
|
|
NM_000094.4(COL7A1):c.1613G>A (p.Arg538His)
|
rs138791004
|
0.00138
|
|
NM_000178.4(GSS):c.988C>T (p.Arg330Cys)
|
rs148640446
|
0.00138
|
|
NM_000213.5(ITGB4):c.3112-3C>T
|
rs151033645
|
0.00138
|
|
NM_000260.4(MYO7A):c.510G>A (p.Leu170=)
|
rs34477144
|
0.00138
|
|
NM_000285.4(PEPD):c.104G>A (p.Arg35Gln)
|
rs200435937
|
0.00138
|
|
NM_000506.3(F2):c.598G>A (p.Glu200Lys)
|
rs62623459
|
0.00138
|
|
NM_001041.4(SI):c.1043C>T (p.Pro348Leu)
|
rs77546399
|
0.00138
|
|
NM_001080414.4(CCDC88C):c.5296G>A (p.Val1766Met)
|
rs201931182
|
0.00138
|
|
NM_001083961.2(WDR62):c.1359C>T (p.Asn453=)
|
rs148667984
|
0.00138
|
|
NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser)
|
rs199784029
|
0.00138
|
|
NM_001355436.2(SPTB):c.5050C>T (p.Arg1684Cys)
|
rs141226650
|
0.00138
|
|
NM_001384140.1(PCDH15):c.4891C>T (p.Leu1631=)
|
rs200155519
|
0.00138
|
|
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys)
|
rs367630521
|
0.00138
|
|
NM_001384474.1(LOXHD1):c.3024C>T (p.Val1008=)
|
rs370616818
|
0.00138
|
|
NM_002408.4(MGAT2):c.99G>T (p.Lys33Asn)
|
rs140584714
|
0.00138
|
|
NM_003114.5(SPAG1):c.2265A>T (p.Lys755Asn)
|
rs148883126
|
0.00138
|
|
NM_004629.2(FANCG):c.20C>T (p.Ser7Phe)
|
rs35984312
|
0.00138
|
|
NM_005055.5(RAPSN):c.821G>A (p.Ser274Asn)
|
rs140996453
|
0.00138
|
|
NM_005198.5(CHKB):c.457T>C (p.Leu153=)
|
rs146693439
|
0.00138
|
|
NM_005262.3(GFER):c.189G>C (p.Glu63Asp)
|
rs375792737
|
0.00138
|
|
NM_006642.5(SDCCAG8):c.1501G>C (p.Asp501His)
|
rs150646039
|
0.00138
|
|
NM_017668.3(NDE1):c.948-2772T>C
|
rs143288748
|
0.00138
|
|
NM_017807.4(OSGEP):c.355C>T (p.Leu119Phe)
|
rs147548960
|
0.00138
|
|
NM_020631.6(PLEKHG5):c.1019C>T (p.Ala340Val)
|
rs72861528
|
0.00138
|
|
NM_020661.4(AICDA):c.299G>C (p.Gly100Ala)
|
rs201210527
|
0.00138
|
|
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)
|
rs151024019
|
0.00138
|
|
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn)
|
rs184143186
|
0.00138
|
|
NM_145046.5(CALR3):c.848C>T (p.Thr283Ile)
|
rs75099211
|
0.00138
|
|
NM_173076.3(ABCA12):c.2033A>G (p.Asn678Ser)
|
rs147218173
|
0.00138
|
|
NM_181882.3(PRX):c.3947C>T (p.Ala1316Val)
|
rs142762689
|
0.00138
|
|
NM_194454.3(KRIT1):c.*132T>G
|
rs572414111
|
0.00138
|
|
NM_194454.3(KRIT1):c.*137del
|
rs543954194
|
0.00138
|
|
NM_198525.3(KIF7):c.3944C>T (p.Pro1315Leu)
|
rs150248985
|
0.00138
|
|
NM_000044.6(AR):c.2395C>G (p.Gln799Glu)
|
rs137852591
|
0.00137
|
|
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)
|
rs28904919
|
0.00137
|
|
NM_000059.4(BRCA2):c.631+43G>T
|
rs276174869
|
0.00137
|
|
NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln)
|
rs145720191
|
0.00137
|
|
NM_000135.4(FANCA):c.2977C>A (p.Gln993Lys)
|
rs140823801
|
0.00137
|
|
NM_000151.4(G6PC1):c.-45G>A
|
rs367816430
|
0.00137
|
|
NM_000540.3(RYR1):c.2797G>A (p.Ala933Thr)
|
rs148623597
|
0.00137
|
|
NM_001040436.3(YARS2):c.*126_*127del
|
rs141873255
|
0.00137
|
|
NM_001083961.2(WDR62):c.2666T>C (p.Met889Thr)
|
rs139749569
|
0.00137
|
|
NM_001142864.4(PIEZO1):c.5963C>T (p.Ala1988Val)
|
rs556192193
|
0.00137
|
|
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr)
|
rs201141958
|
0.00137
|
|
NM_001195263.2(PDZD7):c.370C>T (p.Arg124Trp)
|
rs114917863
|
0.00137
|
|
NM_001289104.2(PRKCSH):c.416G>A (p.Arg139His)
|
rs139991238
|
0.00137
|
|
NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln)
|
rs104895464
|
0.00137
|
|
NM_001378609.3(OTOGL):c.3213+10C>T
|
rs201373228
|
0.00137
|
|
NM_001384474.1(LOXHD1):c.5767C>G (p.Gln1923Glu)
|
rs377368588
|
0.00137
|
|
NM_001723.7(DST):c.4049C>T (p.Thr1350Met)
|
rs45472691
|
0.00137
|
|
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala)
|
rs79068489
|
0.00137
|
|
NM_002470.4(MYH3):c.3479C>T (p.Thr1160Met)
|
rs145080512
|
0.00137
|
|
NM_003737.4(DCHS1):c.4080G>A (p.Ala1360=)
|
rs372790303
|
0.00137
|
|
NM_004667.6(HERC2):c.8342G>C (p.Ser2781Thr)
|
rs146558015
|
0.00137
|
|
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)
|
rs1800709
|
0.00137
|
|
NM_015192.4(PLCB1):c.2550G>T (p.Glu850Asp)
|
rs141433824
|
0.00137
|
|
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu)
|
rs71640285
|
0.00137
|
|
NM_020631.6(PLEKHG5):c.509C>T (p.Pro170Leu)
|
rs59117380
|
0.00137
|
|
NM_021098.3(CACNA1H):c.6848A>T (p.Asp2283Val)
|
rs58597457
|
0.00137
|
|
NM_022772.4(EPS8L2):c.1584G>C (p.Trp528Cys)
|
rs184903112
|
0.00137
|
|
NM_032119.4(ADGRV1):c.8815C>T (p.Pro2939Ser)
|
rs202211640
|
0.00137
|
|
NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu)
|
rs115534729
|
0.00137
|
|
NM_000342.4(SLC4A1):c.1522G>A (p.Glu508Lys)
|
rs45568837
|
0.00136
|
|
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys)
|
rs200714434
|
0.00136
|
|
NM_001142864.4(PIEZO1):c.3793G>A (p.Asp1265Asn)
|
rs570106950
|
0.00136
|
|
NM_001160372.4(TRAPPC9):c.1164C>T (p.Tyr388=)
|
rs148976893
|
0.00136
|
|
NM_001195263.2(PDZD7):c.2250G>T (p.Trp750Cys)
|
rs759725715
|
0.00136
|
|
NM_001355436.2(SPTB):c.6496C>G (p.Pro2166Ala)
|
rs144051169
|
0.00136
|
|
NM_001395413.1(POR):c.975C>T (p.Ala325=)
|
rs72557941
|
0.00136
|
|
NM_002180.3(IGHMBP2):c.1603A>G (p.Ile535Val)
|
rs140221316
|
0.00136
|
|
NM_002972.4(SBF1):c.2650C>G (p.Leu884Val)
|
rs202055128
|
0.00136
|
|
NM_003119.4(SPG7):c.4G>A (p.Ala2Thr)
|
rs535030441
|
0.00136
|
|
NM_003126.4(SPTA1):c.5378G>A (p.Arg1793Gln)
|
rs200938874
|
0.00136
|
|
NM_005559.4(LAMA1):c.5867A>G (p.Asn1956Ser)
|
rs117433399
|
0.00136
|
|
NM_007118.4(TRIO):c.41C>T (p.Ser14Phe)
|
rs905287265
|
0.00136
|
|
NM_020549.5(CHAT):c.909C>T (p.His303=)
|
rs76570508
|
0.00136
|
|
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys)
|
rs200649500
|
0.00136
|
|
NM_024514.5(CYP2R1):c.4T>C (p.Trp2Arg)
|
rs199997444
|
0.00136
|
|
NM_181426.2(CCDC39):c.1954C>T (p.Pro652Ser)
|
rs145506099
|
0.00136
|
|
NM_181882.3(PRX):c.1574T>C (p.Val525Ala)
|
rs149715830
|
0.00136
|
|
NM_203447.4(DOCK8):c.452G>A (p.Arg151Gln)
|
rs149918318
|
0.00136
|
|
NM_000053.4(ATP7B):c.1278C>T (p.Val426=)
|
rs143556945
|
0.00135
|
|
NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr)
|
rs139956524
|
0.00135
|
|
NM_000081.4(LYST):c.4337G>A (p.Arg1446Gln)
|
rs111722949
|
0.00135
|
|
NM_000213.5(ITGB4):c.1345G>A (p.Gly449Ser)
|
rs147963396
|
0.00135
|
|
NM_000355.4(TCN2):c.296A>C (p.Lys99Thr)
|
rs150225103
|
0.00135
|
|
NM_000760.4(CSF3R):c.1919C>T (p.Thr640Ile)
|
rs121918426
|
0.00135
|
|
NM_001009944.3(PKD1):c.11017-3C>T
|
rs185355445
|
0.00135
|
|
NM_001029883.3(PCARE):c.2418C>T (p.Pro806=)
|
rs189042259
|
0.00135
|
|
NM_001367624.2(ZNF469):c.10330G>C (p.Gly3444Arg)
|
rs569602115
|
0.00135
|
|
NM_001369268.1(ACAN):c.199G>A (p.Ala67Thr)
|
rs182894280
|
0.00135
|
|
NM_002732.4(PRKACG):c.239T>C (p.Val80Ala)
|
rs148063597
|
0.00135
|
|
NM_003235.5(TG):c.1567T>C (p.Ser523Pro)
|
rs116062097
|
0.00135
|
|
NM_004076.5(CRYBB3):c.547G>T (p.Glu183Ter)
|
rs147328317
|
0.00135
|
|
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys)
|
rs141280063
|
0.00135
|
|
NM_007315.4(STAT1):c.1222-5T>C
|
rs191364028
|
0.00135
|
|
NM_012254.3(SLC27A5):c.899-6C>T
|
rs200114980
|
0.00135
|
|
NM_016219.5(MAN1B1):c.337T>C (p.Phe113Leu)
|
rs147529965
|
0.00135
|
|
NM_019892.6(INPP5E):c.21T>C (p.Asn7=)
|
rs571588033
|
0.00135
|
|
NM_022041.4(GAN):c.1612+12A>G
|
rs150344737
|
0.00135
|
|
NM_025136.4(OPA3):c.478C>T (p.Arg160Cys)
|
rs137978109
|
0.00135
|
|
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=)
|
rs141574387
|
0.00135
|
|
NM_144508.5(KNL1):c.4772A>G (p.Asn1591Ser)
|
rs200656662
|
0.00135
|
|
NM_153006.3(NAGS):c.1216G>A (p.Asp406Asn)
|
rs140481641
|
0.00135
|
|
NM_181882.3(PRX):c.3838G>C (p.Glu1280Gln)
|
rs146205352
|
0.00135
|
|
NM_203486.3(DLL3):c.352-15C>T
|
rs201902809
|
0.00135
|
|
NM_000179.3(MSH6):c.3647-6T>A
|
rs182871847
|
0.00134
|
|
NM_000208.4(INSR):c.2736G>A (p.Arg912=)
|
rs147125937
|
0.00134
|
|
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=)
|
rs200799870
|
0.00134
|
|
NM_000349.3(STAR):c.504C>T (p.His168=)
|
rs147138315
|
0.00134
|
|
NM_000355.4(TCN2):c.428-4T>C
|
rs201408393
|
0.00134
|
|
NM_000355.4(TCN2):c.523G>A (p.Val175Met)
|
rs142791153
|
0.00134
|
|
NM_000483.5(APOC2):c.8C>T (p.Thr3Ile)
|
rs148343756
|
0.00134
|
|
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)
|
rs1800073
|
0.00134
|
|
NM_001122769.3(LCA5):c.2026G>T (p.Asp676Tyr)
|
rs143582502
|
0.00134
|
|
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu)
|
rs114986640
|
0.00134
|
|
NM_001164508.2(NEB):c.1206C>T (p.Cys402=)
|
rs199695976
|
0.00134
|
|
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=)
|
rs371802557
|
0.00134
|
|
NM_001267550.2(TTN):c.8902+14T>A
|
rs13388274
|
0.00134
|
|
NM_001457.4(FLNB):c.420G>A (p.Thr140=)
|
rs192491895
|
0.00134
|
|
NM_003126.4(SPTA1):c.1982G>A (p.Arg661His)
|
rs201845149
|
0.00134
|
|
NM_003235.5(TG):c.3999C>G (p.Ile1333Met)
|
rs150728539
|
0.00134
|
|
NM_004998.4(MYO1E):c.1615C>A (p.Leu539Met)
|
rs139049058
|
0.00134
|
|
NM_005141.5(FGB):c.298C>T (p.Pro100Ser)
|
rs2227434
|
0.00134
|
|
NM_005883.3(APC2):c.4958G>A (p.Arg1653Gln)
|
rs555371409
|
0.00134
|
|
NM_005957.5(MTHFR):c.708C>T (p.Phe236=)
|
rs34279942
|
0.00134
|
|
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly)
|
rs186504463
|
0.00134
|
|
NM_016341.4(PLCE1):c.1495C>T (p.Arg499Cys)
|
rs61751493
|
0.00134
|
|
NM_016729.3(FOLR1):c.493+2T>C
|
rs144637717
|
0.00134
|
|
NM_153676.4(USH1C):c.1906C>T (p.Arg636Cys)
|
rs149510892
|
0.00134
|
|
NM_201384.3(PLEC):c.174+10del
|
rs528031000
|
0.00134
|
|
NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg)
|
rs148978269
|
0.00133
|
|
NM_000237.3(LPL):c.1136C>T (p.Thr379Ile)
|
rs76708715
|
0.00133
|
|
NM_000243.3(MEFV):c.986G>A (p.Arg329His)
|
rs104895112
|
0.00133
|
|
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile)
|
rs61749440
|
0.00133
|
|
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp)
|
rs138976576
|
0.00133
|
|
NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser)
|
rs117620008
|
0.00133
|
|
NM_001114134.2(EPB42):c.1672G>A (p.Glu558Lys)
|
rs75424023
|
0.00133
|
|
NM_001142800.2(EYS):c.6547A>G (p.Ser2183Gly)
|
rs368458853
|
0.00133
|
|
NM_001235.5(SERPINH1):c.1219G>C (p.Val407Leu)
|
rs138241050
|
0.00133
|
|
NM_001367624.2(ZNF469):c.8788G>T (p.Asp2930Tyr)
|
rs76792613
|
0.00133
|
|
NM_001379500.1(COL18A1):c.3920C>T (p.Ser1307Leu)
|
rs61735035
|
0.00133
|
|
NM_001379610.1(SPINK1):c.75C>T (p.Ser25=)
|
rs35006579
|
0.00133
|
|
NM_001384474.1(LOXHD1):c.1961C>T (p.Pro654Leu)
|
rs369297699
|
0.00133
|
|
NM_001388492.1(HTT):c.3244G>C (p.Asp1082His)
|
rs1065746
|
0.00133
|
|
NM_001625.4(AK2):c.49C>G (p.Arg17Gly)
|
rs138577419
|
0.00133
|
|
NM_001985.3(ETFB):c.292C>T (p.Arg98Cys)
|
rs147353781
|
0.00133
|
|
NM_002435.3(MPI):c.10C>T (p.Pro4Ser)
|
rs143982014
|
0.00133
|
|
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser)
|
rs141553918
|
0.00133
|
|
NM_004525.3(LRP2):c.3110G>A (p.Arg1037Lys)
|
rs147058423
|
0.00133
|
|
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg)
|
rs142736845
|
0.00133
|
|
NM_006073.4(TRDN):c.1713A>C (p.Glu571Asp)
|
rs201115952
|
0.00133
|
|
NM_006267.5(RANBP2):c.4498G>C (p.Ala1500Pro)
|
rs145284139
|
0.00133
|
|
NM_007254.4(PNKP):c.1491C>T (p.Ala497=)
|
rs116192442
|
0.00133
|
|
NM_012293.3(PXDN):c.19G>T (p.Gly7Cys)
|
rs775995985
|
0.00133
|
|
NM_017668.3(NDE1):c.723G>T (p.Gly241=)
|
rs570994490
|
0.00133
|
|
NM_020944.3(GBA2):c.815T>C (p.Val272Ala)
|
rs142602400
|
0.00133
|
|
NM_022124.6(CDH23):c.*434G>A
|
rs529522213
|
0.00133
|
|
NM_024577.4(SH3TC2):c.79A>G (p.Thr27Ala)
|
rs141649676
|
0.00133
|
|
NM_025074.7(FRAS1):c.11264C>T (p.Pro3755Leu)
|
rs199510509
|
0.00133
|
|
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)
|
rs201838492
|
0.00133
|
|
NM_030957.4(ADAMTS10):c.1719C>T (p.His573=)
|
rs142320702
|
0.00133
|
|
NM_181712.5(KANK4):c.2401T>C (p.Tyr801His)
|
rs145623004
|
0.00133
|
|
NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met)
|
rs111033393
|
0.00133
|
|
NM_198586.3(NHLRC1):c.422T>C (p.Val141Ala)
|
rs143537405
|
0.00133
|
|
NM_212552.3(BOLA3):c.258+9A>C
|
rs201380456
|
0.00133
|
|
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=)
|
rs28897762
|
0.00132
|
|
NM_000276.4(OCRL):c.39+10G>A
|
rs765141317
|
0.00132
|
|
NM_000290.4(PGAM2):c.310G>A (p.Ala104Thr)
|
rs150570281
|
0.00132
|
|
NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp)
|
rs139310448
|
0.00132
|
|
NM_000369.5(TSHR):c.1600C>T (p.Arg534Cys)
|
rs150602845
|
0.00132
|
|
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys)
|
rs141212446
|
0.00132
|
|
NM_000552.5(VWF):c.6303C>A (p.Gly2101=)
|
rs115914543
|
0.00132
|
|
NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr)
|
rs142614369
|
0.00132
|
|
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=)
|
rs144256966
|
0.00132
|
|
NM_001042646.3(TRAK1):c.866C>T (p.Ser289Leu)
|
rs145303759
|
0.00132
|
|
NM_001079866.2(BCS1L):c.775T>A (p.Ser259Thr)
|
rs77729067
|
0.00132
|
|
NM_001142800.2(EYS):c.5474C>A (p.Thr1825Asn)
|
rs182151153
|
0.00132
|
|
NM_001267550.2(TTN):c.40223A>G (p.Glu13408Gly)
|
rs183950862
|
0.00132
|
|
NM_001355436.2(SPTB):c.5915G>A (p.Arg1972Gln)
|
rs140141633
|
0.00132
|
|
NM_004998.4(MYO1E):c.1135C>G (p.His379Asp)
|
rs150983259
|
0.00132
|
|
NM_005559.4(LAMA1):c.4550T>A (p.Val1517Asp)
|
rs146822562
|
0.00132
|
|
NM_014336.5(AIPL1):c.-17C>A
|
rs188246267
|
0.00132
|
|
NM_016239.4(MYO15A):c.2194C>T (p.Pro732Ser)
|
rs376451611
|
0.00132
|
|
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val)
|
rs181626399
|
0.00132
|
|
NM_182961.4(SYNE1):c.9655G>A (p.Val3219Ile)
|
rs140927945
|
0.00132
|
|
NM_201384.3(PLEC):c.11524G>A (p.Glu3842Lys)
|
rs187011732
|
0.00132
|
|
NM_000428.3(LTBP2):c.3863G>T (p.Gly1288Val)
|
rs139481866
|
0.00131
|
|
NM_000433.4(NCF2):c.1184G>A (p.Arg395Gln)
|
rs145229115
|
0.00131
|
|
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=)
|
rs201258230
|
0.00131
|
|
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=)
|
rs375628894
|
0.00131
|
|
NM_001127671.2(LIFR):c.364A>G (p.Thr122Ala)
|
rs145163157
|
0.00131
|
|
NM_001164508.2(NEB):c.4463T>C (p.Met1488Thr)
|
rs201545521
|
0.00131
|
|
NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser)
|
rs186681106
|
0.00131
|
|
NM_001267550.2(TTN):c.83315A>T (p.Asn27772Ile)
|
rs578191491
|
0.00131
|
|
NM_001297.5(CNGB1):c.232G>A (p.Ala78Thr)
|
rs201407276
|
0.00131
|
|
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu)
|
rs547116063
|
0.00131
|
|
NM_001367624.2(ZNF469):c.9516C>T (p.Ala3172=)
|
rs577913880
|
0.00131
|
|
NM_001370298.3(FGD4):c.2560G>A (p.Val854Met)
|
rs61753359
|
0.00131
|
|
NM_001370466.1(NOD2):c.1970G>A (p.Arg657Gln)
|
rs114664276
|
0.00131
|
|
NM_001458.5(FLNC):c.7862G>A (p.Arg2621Gln)
|
rs201636548
|
0.00131
|
|
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser)
|
rs150966847
|
0.00131
|
|
NM_003477.3(PDHX):c.47A>C (p.Tyr16Ser)
|
rs118136428
|
0.00131
|
|
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp)
|
rs150165484
|
0.00131
|
|
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)
|
rs28763965
|
0.00131
|
|
NM_004998.4(MYO1E):c.1713C>G (p.Asp571Glu)
|
rs143249432
|
0.00131
|
|
NM_006015.6(ARID1A):c.5779G>C (p.Ala1927Pro)
|
rs143257313
|
0.00131
|
|
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe)
|
rs142553916
|
0.00131
|
|
NM_014140.4(SMARCAL1):c.2528+5G>C
|
rs145908212
|
0.00131
|
|
NM_014244.5(ADAMTS2):c.94C>T (p.Pro32Ser)
|
rs547548078
|
0.00131
|
|
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr)
|
rs111920492
|
0.00131
|
|
NM_015202.5(KATNIP):c.2051C>A (p.Ser684Tyr)
|
rs144244281
|
0.00131
|
|
NM_020451.3(SELENON):c.729G>A (p.Pro243=)
|
rs139020143
|
0.00131
|
|
NM_022124.6(CDH23):c.*430A>T
|
rs562268606
|
0.00131
|
|
NM_025074.7(FRAS1):c.7039G>T (p.Val2347Phe)
|
rs201369510
|
0.00131
|
|
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn)
|
rs201386977
|
0.00131
|
|
NM_032119.4(ADGRV1):c.1776C>A (p.Val592=)
|
rs184127858
|
0.00131
|
|
NM_032444.4(SLX4):c.422G>T (p.Gly141Val)
|
rs77306735
|
0.00131
|
|
NM_033109.5(PNPT1):c.688G>C (p.Glu230Gln)
|
rs34928857
|
0.00131
|
|
NM_133372.3(FNIP1):c.1553G>A (p.Arg518Gln)
|
rs115209326
|
0.00131
|
|
NM_173551.5(ANKS6):c.281T>C (p.Val94Ala)
|
rs538147505
|
0.00131
|
|
NM_182914.3(SYNE2):c.1447G>A (p.Glu483Lys)
|
rs200611311
|
0.00131
|
|
NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn)
|
rs142272833
|
0.00130
|
|
NM_001355436.2(SPTB):c.414T>C (p.Ile138=)
|
rs139699062
|
0.00130
|
|
NM_001363711.2(DUOX2):c.3232G>A (p.Val1078Met)
|
rs147772932
|
0.00130
|
|
NM_001384910.1(GUCA1A):c.149C>T (p.Pro50Leu)
|
rs104893968
|
0.00130
|
|
NM_001558.4(IL10RA):c.698T>G (p.Val233Gly)
|
rs138929400
|
0.00130
|
|
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr)
|
rs114544564
|
0.00130
|
|
NM_002439.5(MSH3):c.2740A>G (p.Ile914Val)
|
rs148633216
|
0.00130
|
|
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)
|
rs35719192
|
0.00130
|
|
NM_004519.4(KCNQ3):c.*3591T>C
|
rs778136645
|
0.00130
|
|
NM_006201.5(CDK16):c.727C>T (p.Leu243=)
|
rs145117961
|
0.00130
|
|
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys)
|
rs78920863
|
0.00130
|
|
NM_015175.3(NBEAL2):c.1948G>A (p.Gly650Arg)
|
rs201373710
|
0.00130
|
|
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg)
|
rs45527543
|
0.00130
|
|
NM_017553.3(INO80):c.3842G>A (p.Arg1281Gln)
|
rs141223506
|
0.00130
|
|
NM_020381.4(PDSS2):c.667G>A (p.Val223Ile)
|
rs35555197
|
0.00130
|
|
NM_020661.4(AICDA):c.427+4C>T
|
rs201180477
|
0.00130
|
|
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys)
|
rs140148105
|
0.00130
|
|
NM_130849.4(SLC39A4):c.1743C>T (p.Val581=)
|
rs144252108
|
0.00130
|
|
NM_138477.4(CDAN1):c.2735C>T (p.Ala912Val)
|
rs143086237
|
0.00130
|
|
NM_000047.3(ARSL):c.1694T>G (p.Ile565Ser)
|
rs142375403
|
0.00129
|
|
NM_000305.3(PON2):c.358A>G (p.Ile120Val)
|
rs116397473
|
0.00129
|
|
NM_000392.5(ABCC2):c.3026T>C (p.Ile1009Thr)
|
rs57351269
|
0.00129
|
|
NM_000541.5(SAG):c.31G>A (p.Glu11Lys)
|
rs200078242
|
0.00129
|
|
NM_001193315.2(VIPAS39):c.1455C>A (p.Ser485Arg)
|
rs145453157
|
0.00129
|
|
NM_001256545.2(MEGF10):c.1626C>T (p.Cys542=)
|
rs146902993
|
0.00129
|
|
NM_001267550.2(TTN):c.1137A>G (p.Arg379=)
|
rs55972547
|
0.00129
|
|
NM_001277115.2(DNAH11):c.2486G>A (p.Arg829His)
|
rs201261243
|
0.00129
|
|
NM_001329943.3(KIAA0586):c.182T>C (p.Leu61Ser)
|
rs183168709
|
0.00129
|
|
NM_001365951.3(KIF1B):c.2115+6625G>A
|
rs145248590
|
0.00129
|
|
NM_001377.3(DYNC2H1):c.8481A>C (p.Thr2827=)
|
rs370627443
|
0.00129
|
|
NM_001492.6(GDF1):c.55C>G (p.Leu19Val)
|
rs370986101
|
0.00129
|
|
NM_002693.3(POLG):c.1585+11T>C
|
rs201566815
|
0.00129
|
|
NM_003322.6(TULP1):c.1376T>C (p.Ile459Thr)
|
rs121909075
|
0.00129
|
|
NM_004260.4(RECQL4):c.716C>T (p.Ala239Val)
|
rs146709578
|
0.00129
|
|
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr)
|
rs139866691
|
0.00129
|
|
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met)
|
rs139872089
|
0.00129
|
|
NM_017654.4(SAMD9):c.4724G>A (p.Gly1575Glu)
|
rs148724199
|
0.00129
|
|
NM_020442.6(VARS2):c.2551C>T (p.Arg851Cys)
|
rs138855624
|
0.00129
|
|
NM_020549.5(CHAT):c.2177C>T (p.Pro726Leu)
|
rs79414242
|
0.00129
|
|
NM_024642.5(GALNT12):c.907G>A (p.Asp303Asn)
|
rs145236923
|
0.00129
|
|
NM_024854.5(PYROXD1):c.365G>A (p.Cys122Tyr)
|
rs140460108
|
0.00129
|
|
NM_031471.6(FERMT3):c.331C>T (p.Arg111Cys)
|
rs140328152
|
0.00129
|
|
NM_033641.4(COL4A6):c.2653G>T (p.Val885Phe)
|
rs112034997
|
0.00129
|
|
NM_144991.3(TSPEAR):c.151G>A (p.Val51Ile)
|
rs150016894
|
0.00129
|
|
NM_147127.5(EVC2):c.1823G>A (p.Arg608His)
|
rs145693546
|
0.00129
|
|
NM_201384.3(PLEC):c.12876G>A (p.Val4292=)
|
rs199509259
|
0.00129
|
|
NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp)
|
rs72660870
|
0.00129
|
|
NM_000159.4(GCDH):c.1143C>T (p.Ile381=)
|
rs142553521
|
0.00128
|
|
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn)
|
rs73167107
|
0.00128
|
|
NM_000529.2(MC2R):c.133G>A (p.Val45Ile)
|
rs148298654
|
0.00128
|
|
NM_001006658.3(CR2):c.2903-3C>A
|
rs372214909
|
0.00128
|
|
NM_001036.6(RYR3):c.2486G>A (p.Arg829His)
|
rs199500216
|
0.00128
|
|
NM_001166114.2(PNPLA6):c.1109C>T (p.Pro370Leu)
|
rs200897068
|
0.00128
|
|
NM_001365536.1(SCN9A):c.3509T>C (p.Ile1170Thr)
|
rs73019664
|
0.00128
|
|
NM_001377.3(DYNC2H1):c.3015A>G (p.Leu1005=)
|
rs201310509
|
0.00128
|
|
NM_001379081.2(FREM1):c.795C>A (p.Asp265Glu)
|
rs140222993
|
0.00128
|
|
NM_002234.4(KCNA5):c.633G>C (p.Glu211Asp)
|
rs35853292
|
0.00128
|
|
NM_002439.5(MSH3):c.1313C>T (p.Ala438Val)
|
rs35121792
|
0.00128
|
|
NM_002626.6(PFKL):c.2209C>T (p.Arg737Trp)
|
rs118106526
|
0.00128
|
|
NM_002693.3(POLG):c.2735-7C>G
|
rs200372494
|
0.00128
|
|
NM_004130.4(GYG1):c.98G>A (p.Arg33Lys)
|
rs146101365
|
0.00128
|
|
NM_004530.6(MMP2):c.1858G>A (p.Val620Ile)
|
rs41459945
|
0.00128
|
|
NM_004655.4(AXIN2):c.1807G>C (p.Ala603Pro)
|
rs145353986
|
0.00128
|
|
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val)
|
rs145564837
|
0.00128
|
|
NM_005559.4(LAMA1):c.181G>A (p.Val61Ile)
|
rs147676957
|
0.00128
|
|
NM_006073.4(TRDN):c.1367A>G (p.Gln456Arg)
|
rs200243235
|
0.00128
|
|
NM_014875.3(KIF14):c.346G>A (p.Glu116Lys)
|
rs141768593
|
0.00128
|
|
NM_018076.5(ODAD2):c.883G>C (p.Val295Leu)
|
rs143215183
|
0.00128
|
|
NM_020376.4(PNPLA2):c.1220C>T (p.Ser407Phe)
|
rs202081894
|
0.00128
|
|
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln)
|
rs138282349
|
0.00128
|
|
NM_024740.2(ALG9):c.1792T>C (p.Tyr598His)
|
rs201194863
|
0.00128
|
|
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=)
|
rs117587497
|
0.00128
|
|
NM_054012.4(ASS1):c.1101G>A (p.Leu367=)
|
rs139031154
|
0.00128
|
|
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=)
|
rs115563233
|
0.00128
|
|
NM_182961.4(SYNE1):c.14221C>T (p.Arg4741Cys)
|
rs150062167
|
0.00128
|
|
NM_194318.4(B3GLCT):c.1207G>A (p.Val403Ile)
|
rs147485868
|
0.00128
|
|
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser)
|
rs28897747
|
0.00127
|
|
NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val)
|
rs41562713
|
0.00127
|
|
NM_000170.3(GLDC):c.1618A>C (p.Lys540Gln)
|
rs140516872
|
0.00127
|
|
NM_000492.4(CFTR):c.4242+10T>C
|
rs138642693
|
0.00127
|
|
NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=)
|
rs61736168
|
0.00127
|
|
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=)
|
rs55865524
|
0.00127
|
|
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)
|
rs140446520
|
0.00127
|
|
NM_001292063.2(OTOG):c.7510G>A (p.Ala2504Thr)
|
rs548278514
|
0.00127
|
|
NM_001364905.1(LRBA):c.2340A>G (p.Thr780=)
|
rs79392371
|
0.00127
|
|
NM_001388419.1(KALRN):c.5182+21760C>T
|
rs56407180
|
0.00127
|
|
NM_001457.4(FLNB):c.6000T>C (p.Gly2000=)
|
rs140926445
|
0.00127
|
|
NM_002234.4(KCNA5):c.1595C>T (p.Pro532Leu)
|
rs17221812
|
0.00127
|
|
NM_006204.4(PDE6C):c.742A>G (p.Asn248Asp)
|
rs140524715
|
0.00127
|
|
NM_006231.4(POLE):c.296C>T (p.Pro99Leu)
|
rs5744739
|
0.00127
|
|
NM_006946.4(SPTBN2):c.5980C>T (p.Arg1994Trp)
|
rs140000699
|
0.00127
|
|
NM_014239.4(EIF2B2):c.380C>T (p.Ala127Val)
|
rs150617429
|
0.00127
|
|
NM_014687.4(RUBCN):c.430G>A (p.Gly144Arg)
|
rs115638090
|
0.00127
|
|
NM_015466.4(PTPN23):c.257C>T (p.Ser86Leu)
|
rs149197378
|
0.00127
|
|
NM_020247.5(COQ8A):c.989A>G (p.Tyr330Cys)
|
rs150243147
|
0.00127
|
|
NM_020366.4(RPGRIP1):c.542C>G (p.Ala181Gly)
|
rs186266220
|
0.00127
|
|
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=)
|
rs144557304
|
0.00127
|
|
NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg)
|
rs144973796
|
0.00127
|
|
NM_025137.4(SPG11):c.2887A>C (p.Arg963=)
|
rs150689014
|
0.00127
|
|
NM_182476.3(COQ6):c.1009A>G (p.Arg337Gly)
|
rs139010315
|
0.00127
|
|
NM_182914.3(SYNE2):c.15445C>T (p.Arg5149Cys)
|
rs143088941
|
0.00127
|
|
NM_182961.4(SYNE1):c.21781C>A (p.Arg7261=)
|
rs138032057
|
0.00127
|
|
NM_194248.3(OTOF):c.578G>T (p.Arg193Ile)
|
rs139779680
|
0.00127
|
|
NM_207361.6(FREM2):c.2740T>G (p.Cys914Gly)
|
rs146685625
|
0.00127
|
|
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile)
|
rs144761622
|
0.00126
|
|
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val)
|
rs55712212
|
0.00126
|
|
NM_000081.4(LYST):c.8487C>T (p.Ile2829=)
|
rs144597913
|
0.00126
|
|
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg)
|
rs140781259
|
0.00126
|
|
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg)
|
rs150062050
|
0.00126
|
|
NM_000463.3(UGT1A1):c.1122T>C (p.Gly374=)
|
rs139698110
|
0.00126
|
|
NM_000540.3(RYR1):c.7923C>G (p.Leu2641=)
|
rs142558977
|
0.00126
|
|
NM_001029883.3(PCARE):c.2864G>A (p.Arg955Gln)
|
rs184249075
|
0.00126
|
|
NM_001029883.3(PCARE):c.530C>T (p.Pro177Leu)
|
rs190791051
|
0.00126
|
|
NM_001040716.2(PC):c.616G>T (p.Val206Leu)
|
rs147945506
|
0.00126
|
|
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro)
|
rs61735272
|
0.00126
|
|
NM_001145026.2(PTPRQ):c.3313A>G (p.Thr1105Ala)
|
rs186746372
|
0.00126
|
|
NM_001378609.3(OTOGL):c.2456C>T (p.Ser819Leu)
|
rs199855270
|
0.00126
|
|
NM_001458.5(FLNC):c.1813+11G>T
|
rs138716837
|
0.00126
|
|
NM_001783.4(CD79A):c.419C>A (p.Thr140Asn)
|
rs148797987
|
0.00126
|
|
NM_002291.3(LAMB1):c.1736G>A (p.Arg579Gln)
|
rs115518856
|
0.00126
|
|
NM_002900.3(RBP3):c.1795A>G (p.Ile599Val)
|
rs144289912
|
0.00126
|
|
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)
|
rs72466590
|
0.00126
|
|
NM_004525.3(LRP2):c.5209C>T (p.Leu1737Phe)
|
rs149469954
|
0.00126
|
|
NM_004615.4(TSPAN7):c.515C>A (p.Pro172His)
|
rs104894951
|
0.00126
|
|
NM_004947.5(DOCK3):c.5020A>T (p.Met1674Leu)
|
rs142515812
|
0.00126
|
|
NM_005559.4(LAMA1):c.6250C>T (p.Arg2084Trp)
|
rs146111631
|
0.00126
|
|
NM_005609.4(PYGM):c.2286T>G (p.Ile762Met)
|
rs75685607
|
0.00126
|
|
NM_005876.5(SPEG):c.6358C>T (p.Leu2120Phe)
|
rs201901718
|
0.00126
|
|
NM_006121.4(KRT1):c.982A>T (p.Thr328Ser)
|
rs139428176
|
0.00126
|
|
NM_020632.3(ATP6V0A4):c.1048A>G (p.Met350Val)
|
rs76977934
|
0.00126
|
|
NM_020987.5(ANK3):c.8534G>A (p.Gly2845Glu)
|
rs139022925
|
0.00126
|
|
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg)
|
rs116046810
|
0.00126
|
|
NM_022095.4(ZNF335):c.3392G>A (p.Arg1131Lys)
|
rs114864530
|
0.00126
|
|
NM_031433.4(MFRP):c.1014C>A (p.Ser338Arg)
|
rs145319149
|
0.00126
|
|
NM_033004.4(NLRP1):c.1732G>A (p.Gly578Ser)
|
rs115799546
|
0.00126
|
|
NM_133261.3(GIPC3):c.856G>A (p.Val286Ile)
|
rs138339125
|
0.00126
|
|
NM_173076.3(ABCA12):c.485C>T (p.Ala162Val)
|
rs149399707
|
0.00126
|
|
NM_206933.4(USH2A):c.8315C>T (p.Thr2772Ile)
|
rs150807452
|
0.00126
|
|
NM_000036.3(AMPD1):c.381+1G>C
|
rs143303736
|
0.00125
|
|
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)
|
rs4988008
|
0.00125
|
|
NM_000059.4(BRCA2):c.632-69T>C
|
rs61948377
|
0.00125
|
|
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)
|
rs79204362
|
0.00125
|
|
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu)
|
rs149112292
|
0.00125
|
|
NM_000158.4(GBE1):c.1521T>C (p.Thr507=)
|
rs372821643
|
0.00125
|
|
NM_000158.4(GBE1):c.15G>A (p.Met5Ile)
|
rs62267114
|
0.00125
|
|
NM_000218.3(KCNQ1):c.*904T>C
|
rs186055804
|
0.00125
|
|
NM_000222.3(KIT):c.1588G>A (p.Val530Ile)
|
rs72550822
|
0.00125
|
|
NM_000327.4(ROM1):c.47G>A (p.Arg16His)
|
rs143166696
|
0.00125
|
|
NM_000439.5(PCSK1):c.1197-9C>T
|
rs200973203
|
0.00125
|
|
NM_000540.3(RYR1):c.94C>T (p.Leu32Phe)
|
rs138630815
|
0.00125
|
|
NM_000552.5(VWF):c.546G>A (p.Ser182=)
|
rs143054357
|
0.00125
|
|
NM_000628.5(IL10RB):c.442G>A (p.Val148Met)
|
rs45545138
|
0.00125
|
|
NM_000642.3(AGL):c.1810T>G (p.Phe604Val)
|
rs138105395
|
0.00125
|
|
NM_000823.4(GHRHR):c.512C>G (p.Thr171Ser)
|
rs10227922
|
0.00125
|
|
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe)
|
rs139945204
|
0.00125
|
|
NM_001079802.2(FKTN):c.166-4A>G
|
rs193922689
|
0.00125
|
|
NM_001080414.4(CCDC88C):c.3202G>T (p.Ala1068Ser)
|
rs201044013
|
0.00125
|
|
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg)
|
rs189623595
|
0.00125
|
|
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met)
|
rs115119858
|
0.00125
|
|
NM_001322934.2(NFKB2):c.1288C>T (p.Pro430Ser)
|
rs202001697
|
0.00125
|
|
NM_001367561.1(DOCK7):c.3935C>T (p.Thr1312Met)
|
rs59558623
|
0.00125
|
|
NM_001369369.1(FOXN1):c.546C>T (p.Asn182=)
|
rs62640040
|
0.00125
|
|
NM_001384474.1(LOXHD1):c.1244T>G (p.Val415Gly)
|
rs529972175
|
0.00125
|
|
NM_001698.3(AUH):c.381A>G (p.Ile127Met)
|
rs146227896
|
0.00125
|
|
NM_001813.3(CENPE):c.326C>G (p.Ala109Gly)
|
rs115065523
|
0.00125
|
|
NM_002185.5(IL7R):c.339A>C (p.Glu113Asp)
|
rs11567735
|
0.00125
|
|
NM_003126.4(SPTA1):c.6132G>C (p.Leu2044=)
|
rs186987240
|
0.00125
|
|
NM_004320.6(ATP2A1):c.159G>A (p.Val53=)
|
rs148925426
|
0.00125
|
|
NM_004369.4(COL6A3):c.489G>A (p.Ala163=)
|
rs148970984
|
0.00125
|
|
NM_004370.6(COL12A1):c.8405C>T (p.Pro2802Leu)
|
rs200646131
|
0.00125
|
|
NM_014028.4(OSTM1):c.143C>G (p.Ser48Trp)
|
rs201176284
|
0.00125
|
|
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=)
|
rs146417316
|
0.00125
|
|
NM_018714.3(COG1):c.401C>T (p.Ser134Leu)
|
rs146066919
|
0.00125
|
|
NM_030928.4(CDT1):c.514C>T (p.Arg172Cys)
|
rs3218727
|
0.00125
|
|
NM_030973.4(MED25):c.396C>T (p.Arg132=)
|
rs142353864
|
0.00125
|
|
NM_032409.3(PINK1):c.67G>A (p.Gly23Ser)
|
rs551542832
|
0.00125
|
|
NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys)
|
rs140600202
|
0.00125
|
|
NM_033026.6(PCLO):c.13840G>A (p.Ala4614Thr)
|
rs117222461
|
0.00125
|
|
NM_144508.5(KNL1):c.165C>T (p.Asn55=)
|
rs201818761
|
0.00125
|
|
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala)
|
rs150149784
|
0.00124
|
|
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu)
|
rs201062903
|
0.00124
|
|
NM_000036.3(AMPD1):c.235C>T (p.Arg79Trp)
|
rs61758863
|
0.00124
|
|
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)
|
rs11212587
|
0.00124
|
|
NM_000140.5(FECH):c.185C>G (p.Pro62Arg)
|
rs150830931
|
0.00124
|
|
NM_000151.4(G6PC1):c.340+10C>A
|
rs368450665
|
0.00124
|
|
NM_000153.4(GALC):c.1489+3G>A
|
rs186664912
|
0.00124
|
|
NM_000154.2(GALK1):c.593C>T (p.Ala198Val)
|
rs80084721
|
0.00124
|
|
NM_000265.7(NCF1):c.292T>G (p.Cys98Gly)
|
rs144018361
|
0.00124
|
|
NM_001042646.3(TRAK1):c.2054G>A (p.Arg685Gln)
|
rs149186690
|
0.00124
|
|
NM_001042702.5(PJVK):c.250T>A (p.Ser84Thr)
|
rs200507933
|
0.00124
|
|
NM_001061.7(TBXAS1):c.179G>A (p.Arg60His)
|
rs6138
|
0.00124
|
|
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=)
|
rs772339340
|
0.00124
|
|
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly)
|
rs188093810
|
0.00124
|
|
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser)
|
rs147580753
|
0.00124
|
|
NM_001369.3(DNAH5):c.2443T>A (p.Leu815Met)
|
rs149654950
|
0.00124
|
|
NM_001387430.1(SH2B1):c.269C>A (p.Pro90His)
|
rs149091795
|
0.00124
|
|
NM_002334.4(LRP4):c.639C>T (p.Asp213=)
|
rs144974139
|
0.00124
|
|
NM_002472.3(MYH8):c.1209C>A (p.Cys403Ter)
|
rs144321381
|
0.00124
|
|
NM_003482.4(KMT2D):c.6733C>G (p.Leu2245Val)
|
rs201931833
|
0.00124
|
|
NM_004727.3(SLC24A1):c.2445C>T (p.His815=)
|
rs185027365
|
0.00124
|
|
NM_005373.3(MPL):c.754T>C (p.Tyr252His)
|
rs141311765
|
0.00124
|
|
NM_005534.4(IFNGR2):c.37C>T (p.Leu13Phe)
|
rs1012938610
|
0.00124
|
|
NM_006214.4(PHYH):c.601C>G (p.Arg201Gly)
|
rs143957922
|
0.00124
|
|
NM_006261.5(PROP1):c.471C>T (p.Tyr157=)
|
rs145883811
|
0.00124
|
|
NM_006420.3(ARFGEF2):c.3892G>A (p.Gly1298Ser)
|
rs139037316
|
0.00124
|
|
NM_012232.6(CAVIN1):c.540G>A (p.Glu180=)
|
rs143511306
|
0.00124
|
|
NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg)
|
rs115488133
|
0.00124
|
|
NM_015102.5(NPHP4):c.800A>T (p.His267Leu)
|
rs201124357
|
0.00124
|
|
NM_020451.3(SELENON):c.1715C>A (p.Thr572Asn)
|
rs183272965
|
0.00124
|
|
NM_021008.4(DEAF1):c.56T>C (p.Val19Ala)
|
rs767318857
|
0.00124
|
|
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe)
|
rs200542052
|
0.00124
|
|
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=)
|
rs186394654
|
0.00124
|
|
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln)
|
rs528000488
|
0.00124
|
|
NM_024753.5(TTC21B):c.2161A>C (p.Asn721His)
|
rs146637219
|
0.00124
|
|
NM_024753.5(TTC21B):c.511G>A (p.Gly171Arg)
|
rs199821354
|
0.00124
|
|
NM_024996.7(GFM1):c.690-5C>G
|
rs201685981
|
0.00124
|
|
NM_138387.4(G6PC3):c.187A>C (p.Ile63Leu)
|
rs34878178
|
0.00124
|
|
NM_173602.3(DIP2B):c.2755C>A (p.Gln919Lys)
|
rs151181050
|
0.00124
|
|
NM_000352.6(ABCC8):c.1177-56G>A
|
rs183921963
|
0.00123
|
|
NM_000414.4(HSD17B4):c.1210-8T>C
|
rs34254740
|
0.00123
|
|
NM_000642.3(AGL):c.968G>A (p.Arg323Gln)
|
rs139399527
|
0.00123
|
|
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=)
|
rs193922628
|
0.00123
|
|
NM_001122681.2(SH3BP2):c.937G>A (p.Gly313Arg)
|
rs141518457
|
0.00123
|
|
NM_001164508.2(NEB):c.25035C>T (p.Asp8345=)
|
rs201825451
|
0.00123
|
|
NM_001376.5(DYNC1H1):c.9264-8T>G
|
rs368432468
|
0.00123
|
|
NM_001378615.1(CC2D2A):c.2813T>C (p.Met938Thr)
|
rs61740537
|
0.00123
|
|
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=)
|
rs79023226
|
0.00123
|
|
NM_002524.5(NRAS):c.225C>T (p.Gly75=)
|
rs142739534
|
0.00123
|
|
NM_003865.3(HESX1):c.525G>A (p.Ala175=)
|
rs141063672
|
0.00123
|
|
NM_004447.6(EPS8):c.1638C>T (p.Asn546=)
|
rs149455769
|
0.00123
|
|
NM_004525.3(LRP2):c.13921A>T (p.Thr4641Ser)
|
rs79179577
|
0.00123
|
|
NM_004655.4(AXIN2):c.2428G>A (p.Asp810Asn)
|
rs140344858
|
0.00123
|
|
NM_005219.5(DIAPH1):c.1423G>A (p.Glu475Lys)
|
rs193036129
|
0.00123
|
|
NM_005535.3(IL12RB1):c.1172C>T (p.Pro391Leu)
|
rs140254802
|
0.00123
|
|
NM_005612.5(REST):c.2855A>G (p.Asp952Gly)
|
rs148565623
|
0.00123
|
|
NM_006005.3(WFS1):c.2052G>A (p.Ala684=)
|
rs71539668
|
0.00123
|
|
NM_006059.4(LAMC3):c.2066C>T (p.Pro689Leu)
|
rs113443891
|
0.00123
|
|
NM_006514.4(SCN10A):c.-8A>T
|
rs200901459
|
0.00123
|
|
NM_006662.3(SRCAP):c.4189A>G (p.Ile1397Val)
|
rs144657822
|
0.00123
|
|
NM_006996.3(SLC19A2):c.639G>A (p.Lys213=)
|
rs137970656
|
0.00123
|
|
NM_014629.4(ARHGEF10):c.2197C>T (p.His733Tyr)
|
rs147531758
|
0.00123
|
|
NM_015087.5(SPART):c.1172A>G (p.Asp391Gly)
|
rs148833652
|
0.00123
|
|
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln)
|
rs200300254
|
0.00123
|
|
NM_016239.4(MYO15A):c.6186C>A (p.Ala2062=)
|
rs141475629
|
0.00123
|
|
NM_017534.6(MYH2):c.3127T>G (p.Ser1043Ala)
|
rs11658164
|
0.00123
|
|
NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile)
|
rs117307093
|
0.00123
|
|
NM_020207.7(ERCC6L2):c.1375G>T (p.Val459Phe)
|
rs146551545
|
0.00123
|
|
NM_020745.4(AARS2):c.2905G>T (p.Asp969Tyr)
|
rs150039184
|
0.00123
|
|
NM_021120.4(DLG3):c.429C>T (p.Phe143=)
|
rs144225009
|
0.00123
|
|
NM_022437.3(ABCG8):c.1785C>T (p.Phe595=)
|
rs139677898
|
0.00123
|
|
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile)
|
rs138313730
|
0.00123
|
|
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)
|
rs149339264
|
0.00123
|
|
NM_181507.2(HPS5):c.2402G>A (p.Ser801Asn)
|
rs145135349
|
0.00123
|
|
NM_194248.3(OTOF):c.339C>T (p.Cys113=)
|
rs139098225
|
0.00123
|
|
NM_201384.3(PLEC):c.9034G>A (p.Glu3012Lys)
|
rs200898220
|
0.00123
|
|
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr)
|
rs199865688
|
0.00122
|
|
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile)
|
rs140769712
|
0.00122
|
|
NM_000369.5(TSHR):c.929G>A (p.Arg310His)
|
rs139286618
|
0.00122
|
|
NM_001010892.3(RSPH4A):c.1990C>T (p.Pro664Ser)
|
rs146142715
|
0.00122
|
|
NM_001114086.2(CLIC5):c.361G>A (p.Ala121Thr)
|
rs189893797
|
0.00122
|
|
NM_001127178.3(PIGG):c.998G>A (p.Ser333Asn)
|
rs185712951
|
0.00122
|
|
NM_001183.6(ATP6AP1):c.361G>C (p.Glu121Gln)
|
rs148803059
|
0.00122
|
|
NM_001292063.2(OTOG):c.5252G>A (p.Arg1751His)
|
rs185432248
|
0.00122
|
|
NM_001324144.2(ZNF41):c.73-42A>C
|
rs201140907
|
0.00122
|
|
NM_001849.4(COL6A2):c.2683A>C (p.Ser895Arg)
|
rs141233891
|
0.00122
|
|
NM_001904.4(CTNNB1):c.486C>T (p.Asp162=)
|
rs5743392
|
0.00122
|
|
NM_002972.4(SBF1):c.2255C>T (p.Thr752Met)
|
rs188976869
|
0.00122
|
|
NM_003179.3(SYP):c.877G>A (p.Gly293Ser)
|
rs139475570
|
0.00122
|
|
NM_005529.7(HSPG2):c.10280G>A (p.Arg3427Gln)
|
rs142939330
|
0.00122
|
|
NM_006231.4(POLE):c.861T>A (p.Asp287Glu)
|
rs139075637
|
0.00122
|
|
NM_006302.3(MOGS):c.2055T>C (p.Tyr685=)
|
rs202094225
|
0.00122
|
|
NM_012232.6(CAVIN1):c.923A>G (p.Tyr308Cys)
|
rs146799286
|
0.00122
|
|
NM_014140.4(SMARCAL1):c.1851+5G>A
|
rs2066514
|
0.00122
|
|
NM_014714.4(IFT140):c.1574G>C (p.Cys525Ser)
|
rs112545558
|
0.00122
|
|
NM_015721.3(GEMIN4):c.1336G>A (p.Ala446Thr)
|
rs143168627
|
0.00122
|
|
NM_020376.4(PNPLA2):c.1277A>G (p.Asn426Ser)
|
rs140634178
|
0.00122
|
|
NM_022089.4(ATP13A2):c.7G>C (p.Ala3Pro)
|
rs549839037
|
0.00122
|
|
NM_144631.6(ZNF513):c.395G>C (p.Cys132Ser)
|
rs184500376
|
0.00122
|
|
NM_174936.4(PCSK9):c.835C>A (p.Pro279Thr)
|
rs72646509
|
0.00122
|
|
NM_194248.3(OTOF):c.2381G>A (p.Arg794His)
|
rs80356592
|
0.00122
|
|
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu)
|
rs112459877
|
0.00122
|
|
NM_000037.4(ANK1):c.4606C>T (p.Arg1536Cys)
|
rs146416859
|
0.00121
|
|
NM_000091.5(COL4A3):c.3939G>A (p.Gly1313=)
|
rs141552752
|
0.00121
|
|
NM_000211.5(ITGB2):c.311C>T (p.Thr104Met)
|
rs138682103
|
0.00121
|
|
NM_000215.4(JAK3):c.1581G>A (p.Leu527=)
|
rs3213408
|
0.00121
|
|
NM_000243.3(MEFV):c.124C>T (p.Arg42Trp)
|
rs61754767
|
0.00121
|
|
NM_000426.4(LAMA2):c.2856+13G>A
|
rs149487202
|
0.00121
|
|
NM_000426.4(LAMA2):c.8692A>C (p.Arg2898=)
|
rs200718262
|
0.00121
|
|
NM_001009944.3(PKD1):c.4654G>A (p.Val1552Ile)
|
rs149874529
|
0.00121
|
|
NM_001061.7(TBXAS1):c.1394G>A (p.Arg465Gln)
|
rs41311778
|
0.00121
|
|
NM_001127649.3(PEX26):c.911G>A (p.Arg304His)
|
rs17851387
|
0.00121
|
|
NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr)
|
rs114250691
|
0.00121
|
|
NM_001142800.2(EYS):c.5335G>A (p.Gly1779Ser)
|
rs186499459
|
0.00121
|
|
NM_001163809.2(WDR81):c.3532G>A (p.Ala1178Thr)
|
rs151330612
|
0.00121
|
|
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys)
|
rs202162520
|
0.00121
|
|
NM_001267550.2(TTN):c.76645G>A (p.Gly25549Ser)
|
rs181166140
|
0.00121
|
|
NM_001291303.3(FAT4):c.8021A>T (p.Asp2674Val)
|
rs138655269
|
0.00121
|
|
NM_001322934.2(NFKB2):c.2072-3C>T
|
rs201550645
|
0.00121
|
|
NM_001378609.3(OTOGL):c.917C>T (p.Pro306Leu)
|
rs200050988
|
0.00121
|
|
NM_001384140.1(PCDH15):c.2563C>T (p.Arg855Trp)
|
rs138010738
|
0.00121
|
|
NM_002469.3(MYF6):c.334G>T (p.Ala112Ser)
|
rs28928909
|
0.00121
|
|
NM_002900.3(RBP3):c.299C>T (p.Pro100Leu)
|
rs143076262
|
0.00121
|
|
NM_003332.4(TYROBP):c.46C>T (p.Leu16=)
|
rs147393700
|
0.00121
|
|
NM_003355.3(UCP2):c.169G>A (p.Ala57Thr)
|
rs145662569
|
0.00121
|
|
NM_004517.4(ILK):c.631C>T (p.Arg211Cys)
|
rs140322345
|
0.00121
|
|
NM_004982.4(KCNJ8):c.1265C>T (p.Ser422Leu)
|
rs72554071
|
0.00121
|
|
NM_005120.3(MED12):c.5400+6C>T
|
rs192656109
|
0.00121
|
|
NM_005356.5(LCK):c.601G>A (p.Gly201Ser)
|
rs11567841
|
0.00121
|
|
NM_005502.4(ABCA1):c.254C>T (p.Pro85Leu)
|
rs145183203
|
0.00121
|
|
NM_015001.3(SPEN):c.908A>G (p.Asp303Gly)
|
rs150756182
|
0.00121
|
|
NM_015512.5(DNAH1):c.10852T>C (p.Tyr3618His)
|
rs199603472
|
0.00121
|
|
NM_016630.7(SPG21):c.538G>A (p.Ala180Thr)
|
rs149251662
|
0.00121
|
|
NM_017433.5(MYO3A):c.424C>T (p.His142Tyr)
|
rs140301218
|
0.00121
|
|
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)
|
rs45478192
|
0.00121
|
|
NM_033100.4(CDHR1):c.1133G>A (p.Arg378Gln)
|
rs140621272
|
0.00121
|
|
NM_033100.4(CDHR1):c.408C>T (p.Ile136=)
|
rs148125234
|
0.00121
|
|
NM_152383.5(DIS3L2):c.878C>A (p.Pro293His)
|
rs187563594
|
0.00121
|
|
NM_153026.3(PRICKLE1):c.1461C>T (p.Ser487=)
|
rs116197349
|
0.00121
|
|
NM_153717.3(EVC):c.89C>T (p.Pro30Leu)
|
rs886044558
|
0.00121
|
|
NM_173560.4(RFX6):c.223G>C (p.Glu75Gln)
|
rs201996097
|
0.00121
|
|
NM_182914.3(SYNE2):c.18835G>A (p.Ala6279Thr)
|
rs145871645
|
0.00121
|
|
NM_198525.3(KIF7):c.3738C>G (p.Pro1246=)
|
rs144929293
|
0.00121
|
|
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile)
|
rs142481947
|
0.00121
|
|
NM_000153.4(GALC):c.-327G>T
|
rs185943390
|
0.00120
|
|
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=)
|
rs145483148
|
0.00120
|
|
NM_000392.5(ABCC2):c.998A>G (p.Asp333Gly)
|
rs17222674
|
0.00120
|
|
NM_000426.4(LAMA2):c.1650C>T (p.Gly550=)
|
rs899353
|
0.00120
|
|
NM_000719.7(CACNA1C):c.724C>T (p.Leu242=)
|
rs200800133
|
0.00120
|
|
NM_001127496.3(SPRY4):c.461A>G (p.Lys154Arg)
|
rs78310959
|
0.00120
|
|
NM_001129.5(AEBP1):c.260C>T (p.Pro87Leu)
|
rs75107445
|
0.00120
|
|
NM_001189.4(NKX3-2):c.520G>C (p.Val174Leu)
|
rs559539989
|
0.00120
|
|
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu)
|
rs141493373
|
0.00120
|
|
NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr)
|
rs112217391
|
0.00120
|
|
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile)
|
rs150860808
|
0.00120
|
|
NM_001377229.1(DISP1):c.1322C>T (p.Thr441Met)
|
rs114523965
|
0.00120
|
|
NM_001386795.1(DTNA):c.1000G>A (p.Val334Met)
|
rs148123045
|
0.00120
|
|
NM_003193.5(TBCE):c.585C>T (p.Ser195=)
|
rs139440109
|
0.00120
|
|
NM_004667.6(HERC2):c.11381G>A (p.Arg3794Lys)
|
rs142880342
|
0.00120
|
|
NM_015378.4(VPS13D):c.459A>C (p.Gln153His)
|
rs116415833
|
0.00120
|
|
NM_015466.4(PTPN23):c.4618A>G (p.Ile1540Val)
|
rs111852098
|
0.00120
|
|
NM_016955.4(SEPSECS):c.780A>G (p.Ser260=)
|
rs61747281
|
0.00120
|
|
NM_017775.4(TTC19):c.122A>G (p.Gln41Arg)
|
rs1462593526
|
0.00120
|
|
NM_017882.3(CLN6):c.53C>T (p.Ala18Val)
|
rs547125345
|
0.00120
|
|
NM_020451.3(SELENON):c.1602+14C>T
|
rs41284307
|
0.00120
|
|
NM_033100.4(CDHR1):c.556C>T (p.His186Tyr)
|
rs147420731
|
0.00120
|
|
NM_201384.3(PLEC):c.9333G>A (p.Gly3111=)
|
rs188739870
|
0.00120
|
|
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser)
|
rs142786231
|
0.00120
|
|
NM_000037.4(ANK1):c.997G>A (p.Asp333Asn)
|
rs147608206
|
0.00119
|
|
NM_000215.4(JAK3):c.1929G>A (p.Leu643=)
|
rs138645044
|
0.00119
|
|
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val)
|
rs75789129
|
0.00119
|
|
NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys)
|
rs140901235
|
0.00119
|
|
NM_001177693.2(ARHGEF28):c.4664G>A (p.Arg1555Gln)
|
rs201626401
|
0.00119
|
|
NM_001184.4(ATR):c.2776T>C (p.Phe926Leu)
|
rs141783863
|
0.00119
|
|
NM_001365999.1(SZT2):c.4727G>A (p.Arg1576His)
|
rs143935839
|
0.00119
|
|
NM_001379081.2(FREM1):c.4442+3G>A
|
rs181859461
|
0.00119
|
|
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)
|
rs141373204
|
0.00119
|
|
NM_004260.4(RECQL4):c.3443C>T (p.Ser1148Phe)
|
rs35346077
|
0.00119
|
|
NM_004793.4(LONP1):c.2711G>A (p.Arg904His)
|
rs112807920
|
0.00119
|
|
NM_005677.4(COLQ):c.106+6T>C
|
rs201376373
|
0.00119
|
|
NM_006070.6(TFG):c.1060C>G (p.Pro354Ala)
|
rs111356679
|
0.00119
|
|
NM_006282.5(STK4):c.1057A>G (p.Thr353Ala)
|
rs140089638
|
0.00119
|
|
NM_016023.5(OTUD6B):c.-39A>G
|
rs199542428
|
0.00119
|
|
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn)
|
rs142485035
|
0.00119
|
|
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)
|
rs147876778
|
0.00119
|
|
NM_032119.4(ADGRV1):c.207+3A>G
|
rs142356935
|
0.00119
|
|
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln)
|
rs150712805
|
0.00119
|
|
NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile)
|
rs150861748
|
0.00119
|
|
NM_198576.4(AGRN):c.1570C>T (p.Arg524Trp)
|
rs144164397
|
0.00119
|
|
NM_000035.4(ALDOB):c.*12C>T
|
rs201867948
|
0.00118
|
|
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg)
|
rs2230210
|
0.00118
|
|
NM_000152.5(GAA):c.1830C>T (p.Ala610=)
|
rs61736896
|
0.00118
|
|
NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter)
|
rs11574410
|
0.00118
|
|
NM_000617.3(SLC11A2):c.197G>A (p.Ser66Asn)
|
rs141728916
|
0.00118
|
|
NM_001017995.3(SH3PXD2B):c.698C>T (p.Thr233Ile)
|
rs149519060
|
0.00118
|
|
NM_001083614.2(EARS2):c.263C>A (p.Ala88Glu)
|
rs201929423
|
0.00118
|
|
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=)
|
rs199853721
|
0.00118
|
|
NM_001142800.2(EYS):c.5233G>A (p.Asp1745Asn)
|
rs145274061
|
0.00118
|
|
NM_001182.5(ALDH7A1):c.1406G>A (p.Arg469His)
|
rs147940248
|
0.00118
|
|
NM_001793.6(CDH3):c.1681G>A (p.Val561Met)
|
rs151198926
|
0.00118
|
|
NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys)
|
rs137979116
|
0.00118
|
|
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met)
|
rs143713841
|
0.00118
|
|
NM_004994.3(MMP9):c.1891C>A (p.Arg631Ser)
|
rs201280938
|
0.00118
|
|
NM_005333.5(HCCS):c.5G>A (p.Gly2Asp)
|
rs144641429
|
0.00118
|
|
NM_005655.4(KLF10):c.946G>A (p.Ala316Thr)
|
rs141560064
|
0.00118
|
|
NM_005876.5(SPEG):c.1753G>A (p.Gly585Ser)
|
rs200066956
|
0.00118
|
|
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu)
|
rs45449298
|
0.00118
|
|
NM_005993.5(TBCD):c.1534-4G>A
|
rs116536514
|
0.00118
|
|
NM_012213.3(MLYCD):c.1044G>T (p.Glu348Asp)
|
rs138675420
|
0.00118
|
|
NM_014425.5(INVS):c.2310C>T (p.His770=)
|
rs116606949
|
0.00118
|
|
NM_014467.3(SRPX2):c.840G>A (p.Ala280=)
|
rs139377205
|
0.00118
|
|
NM_015272.5(RPGRIP1L):c.482G>A (p.Arg161His)
|
rs74957591
|
0.00118
|
|
NM_015631.6(TCTN3):c.946A>G (p.Thr316Ala)
|
rs200042949
|
0.00118
|
|
NM_016219.5(MAN1B1):c.707C>T (p.Pro236Leu)
|
rs147577332
|
0.00118
|
|
NM_017636.4(TRPM4):c.988G>A (p.Glu330Lys)
|
rs145771389
|
0.00118
|
|
NM_018136.5(ASPM):c.7620A>G (p.Ala2540=)
|
rs147160053
|
0.00118
|
|
NM_019112.4(ABCA7):c.3727-6C>T
|
rs189260652
|
0.00118
|
|
NM_019616.4(F7):c.785G>A (p.Arg262Gln)
|
rs77121822
|
0.00118
|
|
NM_020207.7(ERCC6L2):c.4090A>C (p.Thr1364Pro)
|
rs147269000
|
0.00118
|
|
NM_021815.5(SLC5A7):c.46C>T (p.Leu16Phe)
|
rs143876748
|
0.00118
|
|
NM_024009.3(GJB3):c.187G>A (p.Val63Ile)
|
rs61732295
|
0.00118
|
|
NM_024577.4(SH3TC2):c.1195T>C (p.Phe399Leu)
|
rs144764160
|
0.00118
|
|
NM_033028.5(BBS4):c.208A>G (p.Ile70Val)
|
rs142692981
|
0.00118
|
|
NM_139027.6(ADAMTS13):c.2384C>T (p.Ala795Val)
|
rs201607490
|
0.00118
|
|
NM_152564.5(VPS13B):c.11158G>A (p.Glu3720Lys)
|
rs150393340
|
0.00118
|
|
NM_198253.3(TERT):c.2769G>A (p.Pro923=)
|
rs200174990
|
0.00118
|
|
NM_206933.4(USH2A):c.1179A>G (p.Gln393=)
|
rs148447919
|
0.00118
|
|
NM_206933.4(USH2A):c.4698G>A (p.Gln1566=)
|
rs143218330
|
0.00118
|
|
NM_207361.6(FREM2):c.9038C>T (p.Thr3013Met)
|
rs114400765
|
0.00118
|
|
NM_000180.4(GUCY2D):c.369C>T (p.Gly123=)
|
rs529594203
|
0.00117
|
|
NM_000293.3(PHKB):c.1459-9G>T
|
rs201995780
|
0.00117
|
|
NM_000527.5(LDLR):c.*19G>A
|
rs56270417
|
0.00117
|
|
NM_001089.3(ABCA3):c.3784A>G (p.Ser1262Gly)
|
rs35089233
|
0.00117
|
|
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln)
|
rs200212521
|
0.00117
|
|
NM_001457.4(FLNB):c.6047G>A (p.Arg2016Gln)
|
rs137885421
|
0.00117
|
|
NM_001715.3(BLK):c.974A>C (p.Lys325Thr)
|
rs77401687
|
0.00117
|
|
NM_003126.4(SPTA1):c.3062A>T (p.Asp1021Val)
|
rs200511900
|
0.00117
|
|
NM_003184.4(TAF2):c.157A>G (p.Ile53Val)
|
rs112002462
|
0.00117
|
|
NM_003504.5(CDC45):c.19C>G (p.Arg7Gly)
|
rs147730653
|
0.00117
|
|
NM_005276.4(GPD1):c.236T>G (p.Val79Gly)
|
rs147914698
|
0.00117
|
|
NM_006225.4(PLCD1):c.35-4000A>G
|
rs143961610
|
0.00117
|
|
NM_014053.4(FLVCR1):c.1624C>T (p.Pro542Ser)
|
rs141575859
|
0.00117
|
|
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00117
|
|
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala)
|
rs147370143
|
0.00117
|
|
NM_017777.4(MKS1):c.261+7C>T
|
rs200156751
|
0.00117
|
|
NM_018112.3(TMEM38B):c.748C>T (p.Pro250Ser)
|
rs140157299
|
0.00117
|
|
NM_020661.4(AICDA):c.48A>G (p.Lys16=)
|
rs186739900
|
0.00117
|
|
NM_024577.4(SH3TC2):c.1178C>T (p.Ala393Val)
|
rs148321018
|
0.00117
|
|
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser)
|
rs200440641
|
0.00117
|
|
NM_025132.4(WDR19):c.2702A>G (p.Tyr901Cys)
|
rs76326086
|
0.00117
|
|
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn)
|
rs140179844
|
0.00117
|
|
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00117
|
|
NM_000102.4(CYP17A1):c.62G>A (p.Arg21Lys)
|
rs61754263
|
0.00116
|
|
NM_000123.4(ERCC5):c.3356C>T (p.Ala1119Val)
|
rs2227871
|
0.00116
|
|
NM_000158.4(GBE1):c.2074G>A (p.Ala692Thr)
|
rs192877602
|
0.00116
|
|
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu)
|
rs143523271
|
0.00116
|
|
NM_000233.4(LHCGR):c.1360G>A (p.Val454Ile)
|
rs114320052
|
0.00116
|
|
NM_000255.4(MMUT):c.393G>A (p.Gln131=)
|
rs145682249
|
0.00116
|
|
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=)
|
rs111967655
|
0.00116
|
|
NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser)
|
rs180869784
|
0.00116
|
|
NM_000426.4(LAMA2):c.255C>T (p.Ile85=)
|
rs142083777
|
0.00116
|
|
NM_000441.2(SLC26A4):c.535G>A (p.Ala179Thr)
|
rs114473792
|
0.00116
|
|
NM_000527.5(LDLR):c.858C>T (p.Ser286=)
|
rs140241383
|
0.00116
|
|
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln)
|
rs138246328
|
0.00116
|
|
NM_001006658.3(CR2):c.1140G>A (p.Met380Ile)
|
rs147638245
|
0.00116
|
|
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=)
|
rs41267517
|
0.00116
|
|
NM_001039141.3(TRIOBP):c.3068C>T (p.Ala1023Val)
|
rs201681832
|
0.00116
|
|
NM_001041.4(SI):c.3972A>G (p.Pro1324=)
|
rs142838806
|
0.00116
|
|
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys)
|
rs72648958
|
0.00116
|
|
NM_001378609.3(OTOGL):c.860C>T (p.Ser287Leu)
|
rs147195954
|
0.00116
|
|
NM_001385.3(DPYS):c.264+5C>T
|
rs672601293
|
0.00116
|
|
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg)
|
rs200710788
|
0.00116
|
|
NM_002838.5(PTPRC):c.782G>T (p.Gly261Val)
|
rs142941257
|
0.00116
|
|
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val)
|
rs140317560
|
0.00116
|
|
NM_003072.5(SMARCA4):c.76G>A (p.Ala26Thr)
|
rs145867502
|
0.00116
|
|
NM_003742.4(ABCB11):c.3548T>C (p.Ile1183Thr)
|
rs143484849
|
0.00116
|
|
NM_004646.4(NPHS1):c.658T>G (p.Ser220Ala)
|
rs115333628
|
0.00116
|
|
NM_004870.4(MPDU1):c.43C>T (p.Pro15Ser)
|
rs148935720
|
0.00116
|
|
NM_004937.3(CTNS):c.220G>A (p.Asp74Asn)
|
rs139364393
|
0.00116
|
|
NM_005477.3(HCN4):c.1356C>T (p.Ser452=)
|
rs148453034
|
0.00116
|
|
NM_006343.3(MERTK):c.960+9C>A
|
rs373198570
|
0.00116
|
|
NM_006383.4(CIB2):c.231G>A (p.Ala77=)
|
rs144346527
|
0.00116
|
|
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg)
|
rs199727787
|
0.00116
|
|
NM_013352.4(DSE):c.1961G>A (p.Arg654Gln)
|
rs61741781
|
0.00116
|
|
NM_016023.5(OTUD6B):c.389C>A (p.Ala130Asp)
|
rs143832637
|
0.00116
|
|
NM_016169.4(SUFU):c.600C>T (p.Ile200=)
|
rs149513330
|
0.00116
|
|
NM_016929.5(CLIC5):c.326G>A (p.Arg109Gln)
|
rs117204561
|
0.00116
|
|
NM_018076.5(ODAD2):c.3086C>T (p.Ser1029Phe)
|
rs138588942
|
0.00116
|
|
NM_018668.5(VPS33B):c.944G>A (p.Arg315Gln)
|
rs145303578
|
0.00116
|
|
NM_020435.4(GJC2):c.575C>G (p.Pro192Arg)
|
rs375318012
|
0.00116
|
|
NM_020686.6(ABAT):c.1186A>G (p.Ile396Val)
|
rs150914629
|
0.00116
|
|
NM_020987.5(ANK3):c.11825A>G (p.Lys3942Arg)
|
rs148549519
|
0.00116
|
|
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys)
|
rs61754109
|
0.00116
|
|
NM_178857.6(RP1L1):c.2923T>A (p.Leu975Met)
|
rs146002320
|
0.00116
|
|
NM_182961.4(SYNE1):c.6521C>T (p.Thr2174Ile)
|
rs141858284
|
0.00116
|
|
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=)
|
rs146424389
|
0.00116
|
|
NM_201384.3(PLEC):c.7753G>C (p.Glu2585Gln)
|
rs200488179
|
0.00116
|
|
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu)
|
rs201089582
|
0.00116
|
|
NM_000057.4(BLM):c.3849G>A (p.Gln1283=)
|
rs140524886
|
0.00115
|
|
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu)
|
rs193922358
|
0.00115
|
|
NM_000249.4(MLH1):c.-7C>T
|
rs104894994
|
0.00115
|
|
NM_000337.6(SGCD):c.213G>A (p.Arg71=)
|
rs74846539
|
0.00115
|
|
NM_000760.4(CSF3R):c.1856T>C (p.Leu619Ser)
|
rs141619366
|
0.00115
|
|
NM_001005273.3(CHD3):c.3417G>T (p.Gly1139=)
|
rs61753146
|
0.00115
|
|
NM_001018115.3(FANCD2):c.311T>C (p.Ile104Thr)
|
rs143936557
|
0.00115
|
|
NM_001039141.3(TRIOBP):c.634G>A (p.Gly212Ser)
|
rs201794404
|
0.00115
|
|
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg)
|
rs138268837
|
0.00115
|
|
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)
|
rs201213901
|
0.00115
|
|
NM_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg)
|
rs147236883
|
0.00115
|
|
NM_003073.5(SMARCB1):c.444C>T (p.Ser148=)
|
rs138184483
|
0.00115
|
|
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)
|
rs112215250
|
0.00115
|
|
NM_003977.4(AIP):c.911G>A (p.Arg304Gln)
|
rs104894190
|
0.00115
|
|
NM_005391.5(PDK3):c.376A>G (p.Met126Val)
|
rs138321172
|
0.00115
|
|
NM_014780.5(CUL7):c.1859C>T (p.Pro620Leu)
|
rs147326417
|
0.00115
|
|
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu)
|
rs141715950
|
0.00115
|
|
NM_018238.4(AGK):c.803C>A (p.Thr268Asn)
|
rs142779190
|
0.00115
|
|
NM_018292.5(QRSL1):c.1090A>G (p.Thr364Ala)
|
rs143151340
|
0.00115
|
|
NM_020070.4(IGLL1):c.334G>A (p.Ala112Thr)
|
rs149986237
|
0.00115
|
|
NM_025074.7(FRAS1):c.108+10T>G
|
rs76831011
|
0.00115
|
|
NM_032119.4(ADGRV1):c.2023A>C (p.Ile675Leu)
|
rs200187681
|
0.00115
|
|
NM_032444.4(SLX4):c.590T>C (p.Val197Ala)
|
rs147826749
|
0.00115
|
|
NM_138694.4(PKHD1):c.11130C>T (p.Ile3710=)
|
rs146224907
|
0.00115
|
|
NM_145207.3(AFG2A):c.766A>G (p.Ile256Val)
|
rs143384152
|
0.00115
|
|
NM_207361.6(FREM2):c.7429C>T (p.Arg2477Trp)
|
rs143571375
|
0.00115
|
|
NM_000033.4(ABCD1):c.707G>A (p.Arg236His)
|
rs201455322
|
0.00114
|
|
NM_000037.4(ANK1):c.1484A>G (p.Asn495Ser)
|
rs142690258
|
0.00114
|
|
NM_000314.8(PTEN):c.-461G>A
|
rs1209261790
|
0.00114
|
|
NM_000340.2(SLC2A2):c.1087G>T (p.Ala363Ser)
|
rs76362149
|
0.00114
|
|
NM_001038603.3(MARVELD2):c.389T>A (p.Leu130His)
|
rs144717803
|
0.00114
|
|
NM_001164508.2(NEB):c.17510A>G (p.Lys5837Arg)
|
rs201962649
|
0.00114
|
|
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=)
|
rs145296488
|
0.00114
|
|
NM_001365276.2(TNXB):c.2170C>T (p.Arg724Cys)
|
rs138771398
|
0.00114
|
|
NM_001673.5(ASNS):c.1364C>T (p.Ser455Phe)
|
rs61733327
|
0.00114
|
|
NM_002485.5(NBN):c.1317A>G (p.Ile439Met)
|
rs28538230
|
0.00114
|
|
NM_004183.4(BEST1):c.624G>A (p.Gln208=)
|
rs150247275
|
0.00114
|
|
NM_004333.6(BRAF):c.1433-19A>G
|
rs369635503
|
0.00114
|
|
NM_005005.3(NDUFB9):c.109T>C (p.Tyr37His)
|
rs140417066
|
0.00114
|
|
NM_005055.5(RAPSN):c.474C>T (p.Asp158=)
|
rs56245238
|
0.00114
|
|
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala)
|
rs143558324
|
0.00114
|
|
NM_005559.4(LAMA1):c.3164G>A (p.Arg1055Gln)
|
rs150940045
|
0.00114
|
|
NM_005562.3(LAMC2):c.196G>A (p.Glu66Lys)
|
rs146325169
|
0.00114
|
|
NM_014780.5(CUL7):c.1067G>A (p.Arg356His)
|
rs146227929
|
0.00114
|
|
NM_014855.3(AP5Z1):c.1062C>T (p.His354=)
|
rs192441133
|
0.00114
|
|
NM_015311.3(OBSL1):c.4429G>A (p.Ala1477Thr)
|
rs199936876
|
0.00114
|
|
NM_018136.5(ASPM):c.4436A>G (p.Lys1479Arg)
|
rs115594989
|
0.00114
|
|
NM_018668.5(VPS33B):c.1148T>C (p.Ile383Thr)
|
rs149121639
|
0.00114
|
|
NM_020987.5(ANK3):c.4029G>A (p.Glu1343=)
|
rs116757606
|
0.00114
|
|
NM_024577.4(SH3TC2):c.137A>C (p.Gln46Pro)
|
rs146162276
|
0.00114
|
|
NM_024592.5(SRD5A3):c.110C>T (p.Pro37Leu)
|
rs199975696
|
0.00114
|
|
NM_025099.6(CTC1):c.147C>T (p.Val49=)
|
rs201492796
|
0.00114
|
|
NM_032444.4(SLX4):c.3676C>T (p.Arg1226Trp)
|
rs142008398
|
0.00114
|
|
NM_130849.4(SLC39A4):c.518C>T (p.Ala173Val)
|
rs141890870
|
0.00114
|
|
NM_207037.2(TCF12):c.1465A>G (p.Met489Val)
|
rs149621019
|
0.00114
|
|
NM_000094.4(COL7A1):c.4559C>T (p.Pro1520Leu)
|
rs140114392
|
0.00113
|
|
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met)
|
rs146344855
|
0.00113
|
|
NM_000130.5(F5):c.5265A>G (p.Ile1755Met)
|
rs41272455
|
0.00113
|
|
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)
|
rs61730054
|
0.00113
|
|
NM_000143.4(FH):c.-11C>T
|
rs200942733
|
0.00113
|
|
NM_000152.5(GAA):c.915G>A (p.Gly305=)
|
rs150343359
|
0.00113
|
|
NM_000199.5(SGSH):c.1002C>T (p.Ala334=)
|
rs145596938
|
0.00113
|
|
NM_000286.3(PEX12):c.452G>A (p.Arg151His)
|
rs150186509
|
0.00113
|
|
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=)
|
rs41313033
|
0.00113
|
|
NM_000400.4(ERCC2):c.1789C>T (p.Leu597=)
|
rs138038607
|
0.00113
|
|
NM_000540.3(RYR1):c.9355C>T (p.Arg3119Cys)
|
rs61739911
|
0.00113
|
|
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn)
|
rs2230308
|
0.00113
|
|
NM_001004334.4(GPR179):c.3401G>A (p.Arg1134Gln)
|
rs112987826
|
0.00113
|
|
NM_001018115.3(FANCD2):c.986C>G (p.Ala329Gly)
|
rs116736407
|
0.00113
|
|
NM_001065.4(TNFRSF1A):c.935G>A (p.Arg312Lys)
|
rs200900510
|
0.00113
|
|
NM_001083961.2(WDR62):c.3440A>G (p.Tyr1147Cys)
|
rs146867414
|
0.00113
|
|
NM_001110219.3(GJB6):c.15G>A (p.Thr5=)
|
rs150075979
|
0.00113
|
|
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr)
|
rs141867897
|
0.00113
|
|
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp)
|
rs140640738
|
0.00113
|
|
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His)
|
rs149567378
|
0.00113
|
|
NM_001291303.3(FAT4):c.3402A>T (p.Glu1134Asp)
|
rs144768563
|
0.00113
|
|
NM_001298.3(CNGA3):c.1618G>A (p.Val540Ile)
|
rs116448158
|
0.00113
|
|
NM_001349.4(DARS1):c.1088G>A (p.Gly363Glu)
|
rs2228660
|
0.00113
|
|
NM_001353214.3(DYM):c.1868G>A (p.Arg623Gln)
|
rs138427861
|
0.00113
|
|
NM_001355436.2(SPTB):c.4670A>G (p.Glu1557Gly)
|
rs140648376
|
0.00113
|
|
NM_001355436.2(SPTB):c.6345+19T>A
|
rs151232626
|
0.00113
|
|
NM_001364905.1(LRBA):c.6887C>A (p.Thr2296Asn)
|
rs151286835
|
0.00113
|
|
NM_001375834.1(WIPF1):c.1037C>T (p.Pro346Leu)
|
rs149434153
|
0.00113
|
|
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu)
|
rs45495192
|
0.00113
|
|
NM_004625.4(WNT7A):c.213C>T (p.Asp71=)
|
rs75651130
|
0.00113
|
|
NM_004924.6(ACTN4):c.2680G>A (p.Gly894Ser)
|
rs141002044
|
0.00113
|
|
NM_006269.2(RP1):c.4030T>C (p.Phe1344Leu)
|
rs146256526
|
0.00113
|
|
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys)
|
rs3747835
|
0.00113
|
|
NM_015346.4(ZFYVE26):c.773G>A (p.Arg258Gln)
|
rs150230201
|
0.00113
|
|
NM_015466.4(PTPN23):c.3545G>A (p.Arg1182Gln)
|
rs148987427
|
0.00113
|
|
NM_020461.4(TUBGCP6):c.589T>C (p.Ser197Pro)
|
rs138586345
|
0.00113
|
|
NM_022168.4(IFIH1):c.2863C>G (p.Gln955Glu)
|
rs144455277
|
0.00113
|
|
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys)
|
rs116998555
|
0.00113
|
|
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)
|
rs28997570
|
0.00113
|
|
NM_138694.4(PKHD1):c.281+3A>G
|
rs79803080
|
0.00113
|
|
NM_182895.5(SCARF2):c.2522C>T (p.Thr841Ile)
|
rs537247534
|
0.00113
|
|
NM_198576.4(AGRN):c.4840G>A (p.Glu1614Lys)
|
rs147259096
|
0.00113
|
|
NM_198999.3(SLC26A5):c.1944A>C (p.Gln648His)
|
rs148546326
|
0.00113
|
|
NM_201525.4(ADGRG1):c.1983T>C (p.Gly661=)
|
rs111939130
|
0.00113
|
|
NM_000044.6(AR):c.170T>A (p.Leu57Gln)
|
rs78686797
|
0.00112
|
|
NM_000152.5(GAA):c.2415G>A (p.Val805=)
|
rs150536507
|
0.00112
|
|
NM_000170.3(GLDC):c.2988G>C (p.Gln996His)
|
rs138640017
|
0.00112
|
|
NM_000350.3(ABCA4):c.4050G>C (p.Leu1350=)
|
rs141004967
|
0.00112
|
|
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser)
|
rs121909548
|
0.00112
|
|
NM_001042472.3(ABHD12):c.769C>T (p.Arg257Trp)
|
rs41306784
|
0.00112
|
|
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu)
|
rs144636654
|
0.00112
|
|
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=)
|
rs41292592
|
0.00112
|
|
NM_001142864.4(PIEZO1):c.7374C>G (p.Phe2458Leu)
|
rs202127176
|
0.00112
|
|
NM_001146079.2(CLDN14):c.406G>A (p.Val136Ile)
|
rs140918123
|
0.00112
|
|
NM_001164508.2(NEB):c.177G>A (p.Gln59=)
|
rs200990309
|
0.00112
|
|
NM_001369.3(DNAH5):c.3650T>C (p.Ile1217Thr)
|
rs112124692
|
0.00112
|
|
NM_001941.5(DSC3):c.2488G>A (p.Gly830Ser)
|
rs142851621
|
0.00112
|
|
NM_002016.2(FLG):c.7801G>A (p.Asp2601Asn)
|
rs146849256
|
0.00112
|
|
NM_002439.5(MSH3):c.1522A>G (p.Lys508Glu)
|
rs146768828
|
0.00112
|
|
NM_002439.5(MSH3):c.2041C>T (p.Pro681Ser)
|
rs115198722
|
0.00112
|
|
NM_002796.3(PSMB4):c.-9G>A
|
rs200946642
|
0.00112
|
|
NM_004260.4(RECQL4):c.3010C>T (p.Arg1004Trp)
|
rs36023964
|
0.00112
|
|
NM_004369.4(COL6A3):c.9524T>C (p.Met3175Thr)
|
rs148183839
|
0.00112
|
|
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val)
|
rs138287857
|
0.00112
|
|
NM_007254.4(PNKP):c.650C>G (p.Thr217Ser)
|
rs115259839
|
0.00112
|
|
NM_014049.5(ACAD9):c.928G>A (p.Val310Ile)
|
rs139073821
|
0.00112
|
|
NM_019032.6(ADAMTSL4):c.1893G>A (p.Pro631=)
|
rs112045022
|
0.00112
|
|
NM_020919.4(ALS2):c.3741T>G (p.Gly1247=)
|
rs3219166
|
0.00112
|
|
NM_022081.6(HPS4):c.557C>T (p.Ser186Leu)
|
rs61729175
|
0.00112
|
|
NM_022369.4(STRA6):c.1685-5C>G
|
rs201730717
|
0.00112
|
|
NM_139027.6(ADAMTS13):c.2944G>A (p.Gly982Arg)
|
rs36222275
|
0.00112
|
|
NM_201384.3(PLEC):c.4556C>T (p.Ser1519Leu)
|
rs182120395
|
0.00112
|
|
NM_000163.5(GHR):c.239G>T (p.Gly80Val)
|
rs114025919
|
0.00111
|
|
NM_000540.3(RYR1):c.725+6G>A
|
rs201679831
|
0.00111
|
|
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser)
|
rs45484298
|
0.00111
|
|
NM_001039141.3(TRIOBP):c.2811C>T (p.Ile937=)
|
rs115800799
|
0.00111
|
|
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=)
|
rs149240122
|
0.00111
|
|
NM_001048166.1(STIL):c.2362G>A (p.Val788Ile)
|
rs149697952
|
0.00111
|
|
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu)
|
rs139944375
|
0.00111
|
|
NM_001164508.2(NEB):c.5747T>C (p.Met1916Thr)
|
rs142540692
|
0.00111
|
|
NM_001166108.2(PALLD):c.1394G>A (p.Arg465His)
|
rs115372194
|
0.00111
|
|
NM_001177599.2(SUCLG2):c.1245T>A (p.Asn415Lys)
|
rs192811331
|
0.00111
|
|
NM_001252024.2(TRPM1):c.2953A>C (p.Met985Leu)
|
rs181499296
|
0.00111
|
|
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser)
|
rs184412722
|
0.00111
|
|
NM_001367624.2(ZNF469):c.2297G>A (p.Arg766Gln)
|
rs144492145
|
0.00111
|
|
NM_001374385.1(ATP8B1):c.1014C>T (p.Asn338=)
|
rs145750280
|
0.00111
|
|
NM_001378609.3(OTOGL):c.2564C>T (p.Pro855Leu)
|
rs183159689
|
0.00111
|
|
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val)
|
rs146739496
|
0.00111
|
|
NM_001386140.1(MTTP):c.972G>A (p.Glu324=)
|
rs146953015
|
0.00111
|
|
NM_001457.4(FLNB):c.3522G>A (p.Ser1174=)
|
rs140993979
|
0.00111
|
|
NM_001852.4(COL9A2):c.1576G>A (p.Val526Met)
|
rs141556170
|
0.00111
|
|
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys)
|
rs149082597
|
0.00111
|
|
NM_003477.3(PDHX):c.589C>A (p.Leu197Met)
|
rs139052284
|
0.00111
|
|
NM_004370.6(COL12A1):c.7898T>C (p.Val2633Ala)
|
rs200408101
|
0.00111
|
|
NM_004525.3(LRP2):c.170C>T (p.Ala57Val)
|
rs115350461
|
0.00111
|
|
NM_005732.4(RAD50):c.3253A>G (p.Ile1085Val)
|
rs143189763
|
0.00111
|
|
NM_005751.5(AKAP9):c.10767G>A (p.Leu3589=)
|
rs56198613
|
0.00111
|
|
NM_012254.3(SLC27A5):c.937C>T (p.Leu313=)
|
rs143272701
|
0.00111
|
|
NM_014384.3(ACAD8):c.1162G>A (p.Val388Met)
|
rs139792723
|
0.00111
|
|
NM_014908.4(DOLK):c.1079A>G (p.Tyr360Cys)
|
rs138453255
|
0.00111
|
|
NM_016529.6(ATP8A2):c.1469G>A (p.Arg490His)
|
rs201904651
|
0.00111
|
|
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His)
|
rs143024324
|
0.00111
|
|
NM_173560.4(RFX6):c.2039C>A (p.Thr680Lys)
|
rs146081967
|
0.00111
|
|
NM_182914.3(SYNE2):c.7643+6T>C
|
rs144143344
|
0.00111
|
|
NM_000044.6(AR):c.1424C>T (p.Ala475Val)
|
rs200390780
|
0.00110
|
|
NM_000091.5(COL4A3):c.1483C>T (p.His495Tyr)
|
rs200510532
|
0.00110
|
|
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr)
|
rs144658100
|
0.00110
|
|
NM_000135.4(FANCA):c.80-13C>T
|
rs189841793
|
0.00110
|
|
NM_000170.3(GLDC):c.498T>C (p.Pro166=)
|
rs150193069
|
0.00110
|
|
NM_000249.4(MLH1):c.-28A>G
|
rs56198082
|
0.00110
|
|
NM_000274.4(OAT):c.969C>T (p.Tyr323=)
|
rs138895801
|
0.00110
|
|
NM_000324.3(RHAG):c.199T>C (p.Phe67Leu)
|
rs116356543
|
0.00110
|
|
NM_001258392.3(CLPB):c.1253A>G (p.Asn418Ser)
|
rs116118397
|
0.00110
|
|
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr)
|
rs55663050
|
0.00110
|
|
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys)
|
rs146496197
|
0.00110
|
|
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)
|
rs201043950
|
0.00110
|
|
NM_001277115.2(DNAH11):c.12174C>T (p.Ala4058=)
|
rs185794149
|
0.00110
|
|
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His)
|
rs34193178
|
0.00110
|
|
NM_001378609.3(OTOGL):c.6229T>G (p.Cys2077Gly)
|
rs145929269
|
0.00110
|
|
NM_001852.4(COL9A2):c.1041C>T (p.Gly347=)
|
rs138882727
|
0.00110
|
|
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln)
|
rs201255083
|
0.00110
|
|
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)
|
rs143978652
|
0.00110
|
|
NM_002618.4(PEX13):c.893T>C (p.Met298Thr)
|
rs138545154
|
0.00110
|
|
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile)
|
rs145473716
|
0.00110
|
|
NM_003896.4(ST3GAL5):c.155G>A (p.Arg52Gln)
|
rs141917910
|
0.00110
|
|
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp)
|
rs138466455
|
0.00110
|
|
NM_004817.4(TJP2):c.1877C>G (p.Thr626Ser)
|
rs149911553
|
0.00110
|
|
NM_006941.4(SOX10):c.72C>T (p.Ser24=)
|
rs763019569
|
0.00110
|
|
NM_007059.4(KPTN):c.188G>A (p.Arg63Gln)
|
rs142867197
|
0.00110
|
|
NM_014956.5(CEP164):c.3332G>A (p.Arg1111His)
|
rs61740738
|
0.00110
|
|
NM_015166.4(MLC1):c.628G>A (p.Val210Ile)
|
rs11568178
|
0.00110
|
|
NM_015192.4(PLCB1):c.1491C>T (p.Phe497=)
|
rs145869401
|
0.00110
|
|
NM_015378.4(VPS13D):c.1414+5G>A
|
rs190463258
|
0.00110
|
|
NM_018249.6(CDK5RAP2):c.3558C>T (p.Leu1186=)
|
rs146736925
|
0.00110
|
|
NM_032730.5(RTN4IP1):c.5A>C (p.Glu2Ala)
|
rs138612238
|
0.00110
|
|
NM_133261.3(GIPC3):c.4G>A (p.Glu2Lys)
|
rs764467903
|
0.00110
|
|
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys)
|
rs140383655
|
0.00110
|
|
NM_145861.4(EDARADD):c.161-13T>C
|
rs184596437
|
0.00110
|
|
NM_182961.4(SYNE1):c.22068C>T (p.Thr7356=)
|
rs35686213
|
0.00110
|
|
NM_201384.3(PLEC):c.5391C>T (p.Arg1797=)
|
rs551187778
|
0.00110
|
|
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg)
|
rs55800493
|
0.00109
|
|
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)
|
rs363824
|
0.00109
|
|
NM_000214.3(JAG1):c.2778C>T (p.Phe926=)
|
rs147793030
|
0.00109
|
|
NM_000525.4(KCNJ11):c.678C>T (p.Pro226=)
|
rs74162102
|
0.00109
|
|
NM_000528.4(MAN2B1):c.1110-8C>T
|
rs201690866
|
0.00109
|
|
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser)
|
rs142959373
|
0.00109
|
|
NM_001122769.3(LCA5):c.902G>A (p.Arg301His)
|
rs139142572
|
0.00109
|
|
NM_001128228.3(TPRN):c.617C>T (p.Thr206Ile)
|
rs576809784
|
0.00109
|
|
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=)
|
rs142483266
|
0.00109
|
|
NM_001142864.4(PIEZO1):c.7180G>A (p.Gly2394Ser)
|
rs201950081
|
0.00109
|
|
NM_001164508.2(NEB):c.2283C>T (p.Ala761=)
|
rs373946448
|
0.00109
|
|
NM_001256317.3(TMPRSS3):c.715T>C (p.Tyr239His)
|
rs149001183
|
0.00109
|
|
NM_001256715.2(DNAAF3):c.1255C>T (p.Arg419Trp)
|
rs201929981
|
0.00109
|
|
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro)
|
rs72648930
|
0.00109
|
|
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=)
|
rs56402642
|
0.00109
|
|
NM_001330078.2(NRXN1):c.4254A>G (p.Pro1418=)
|
rs55923848
|
0.00109
|
|
NM_001737.5(C9):c.1451T>A (p.Met484Lys)
|
rs145969667
|
0.00109
|
|
NM_002857.4(PEX19):c.181-5C>T
|
rs199818690
|
0.00109
|
|
NM_003737.4(DCHS1):c.5503C>T (p.Leu1835Phe)
|
rs148791938
|
0.00109
|
|
NM_004069.6(AP2S1):c.153+6G>A
|
rs201686470
|
0.00109
|
|
NM_004655.4(AXIN2):c.1532C>T (p.Thr511Met)
|
rs200883019
|
0.00109
|
|
NM_005591.4(MRE11):c.426C>T (p.Asp142=)
|
rs3218740
|
0.00109
|
|
NM_007347.5(AP4E1):c.1276A>C (p.Ile426Leu)
|
rs148817957
|
0.00109
|
|
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=)
|
rs140034972
|
0.00109
|
|
NM_015512.5(DNAH1):c.9343C>T (p.Arg3115Trp)
|
rs185397176
|
0.00109
|
|
NM_015631.6(TCTN3):c.1591-5C>T
|
rs181107730
|
0.00109
|
|
NM_017837.4(PIGV):c.1277C>T (p.Pro426Leu)
|
rs146969255
|
0.00109
|
|
NM_018972.4(GDAP1):c.310+6del
|
rs780828430
|
0.00109
|
|
NM_019066.5(MAGEL2):c.385A>G (p.Met129Val)
|
rs188762916
|
0.00109
|
|
NM_020435.4(GJC2):c.1193C>T (p.Thr398Ile)
|
rs140942230
|
0.00109
|
|
NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln)
|
rs141828689
|
0.00109
|
|
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile)
|
rs146571352
|
0.00109
|
|
NM_181426.2(CCDC39):c.1781C>T (p.Thr594Ile)
|
rs140505857
|
0.00109
|
|
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala)
|
rs56091799
|
0.00108
|
|
NM_000137.4(FAH):c.565G>A (p.Val189Ile)
|
rs145389125
|
0.00108
|
|
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile)
|
rs202106192
|
0.00108
|
|
NM_000338.3(SLC12A1):c.2287C>G (p.Leu763Val)
|
rs148689126
|
0.00108
|
|
NM_000384.3(APOB):c.2068-4T>A
|
rs41291161
|
0.00108
|
|
NM_000492.4(CFTR):c.2620-26A>G
|
rs201716473
|
0.00108
|
|
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)
|
rs147136339
|
0.00108
|
|
NM_000550.3(TYRP1):c.1554G>C (p.Gln518His)
|
rs41305647
|
0.00108
|
|
NM_001041.4(SI):c.2320A>G (p.Arg774Gly)
|
rs147207752
|
0.00108
|
|
NM_001077446.4(TSEN34):c.581C>T (p.Pro194Leu)
|
rs200626822
|
0.00108
|
|
NM_001082538.3(TCTN1):c.1410C>T (p.Tyr470=)
|
rs370336923
|
0.00108
|
|
NM_001127671.2(LIFR):c.670A>G (p.Ile224Val)
|
rs151282774
|
0.00108
|
|
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile)
|
rs183130427
|
0.00108
|
|
NM_001164508.2(NEB):c.10269G>A (p.Pro3423=)
|
rs368719373
|
0.00108
|
|
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr)
|
rs201767727
|
0.00108
|
|
NM_001164508.2(NEB):c.4834C>T (p.Arg1612Cys)
|
rs200545007
|
0.00108
|
|
NM_001166108.2(PALLD):c.909A>T (p.Arg303Ser)
|
rs138897963
|
0.00108
|
|
NM_001177316.2(SLC34A3):c.375C>T (p.Gly125=)
|
rs142873841
|
0.00108
|
|
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr)
|
rs148617456
|
0.00108
|
|
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe)
|
rs191484894
|
0.00108
|
|
NM_001283009.2(RTEL1):c.959T>C (p.Met320Thr)
|
rs143550996
|
0.00108
|
|
NM_001384474.1(LOXHD1):c.177G>A (p.Thr59=)
|
rs116413527
|
0.00108
|
|
NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln)
|
rs149824485
|
0.00108
|
|
NM_002335.4(LRP5):c.3990G>A (p.Ala1330=)
|
rs147637431
|
0.00108
|
|
NM_002437.5(MPV17):c.239C>T (p.Thr80Ile)
|
rs35759430
|
0.00108
|
|
NM_002863.5(PYGL):c.603G>T (p.Val201=)
|
rs138364932
|
0.00108
|
|
NM_003126.4(SPTA1):c.2600C>A (p.Ala867Glu)
|
rs115877891
|
0.00108
|
|
NM_003383.5(VLDLR):c.1901G>A (p.Arg634His)
|
rs35339834
|
0.00108
|
|
NM_003801.4(GPAA1):c.1863G>T (p.Lys621Asn)
|
rs13255101
|
0.00108
|
|
NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln)
|
rs71318369
|
0.00108
|
|
NM_004530.6(MMP2):c.759C>T (p.Ser253=)
|
rs148801200
|
0.00108
|
|
NM_004560.4(ROR2):c.1583G>A (p.Arg528Gln)
|
rs142215888
|
0.00108
|
|
NM_005051.3(QARS1):c.2123C>T (p.Pro708Leu)
|
rs142327602
|
0.00108
|
|
NM_005245.4(FAT1):c.11497A>G (p.Thr3833Ala)
|
rs201279606
|
0.00108
|
|
NM_005529.7(HSPG2):c.149A>T (p.His50Leu)
|
rs138518139
|
0.00108
|
|
NM_006267.5(RANBP2):c.783-6T>C
|
rs138540027
|
0.00108
|
|
NM_014244.5(ADAMTS2):c.2795G>A (p.Arg932Gln)
|
rs140022033
|
0.00108
|
|
NM_014780.5(CUL7):c.136C>T (p.Arg46Trp)
|
rs141692693
|
0.00108
|
|
NM_015426.5(POC1A):c.235G>A (p.Gly79Ser)
|
rs35249554
|
0.00108
|
|
NM_015713.5(RRM2B):c.48+96G>C
|
rs200373694
|
0.00108
|
|
NM_018006.5(TRMU):c.296T>C (p.Ile99Thr)
|
rs144054758
|
0.00108
|
|
NM_018993.4(RIN2):c.2501A>T (p.Tyr834Phe)
|
rs183141566
|
0.00108
|
|
NM_021951.3(DMRT1):c.671A>G (p.Asn224Ser)
|
rs140506267
|
0.00108
|
|
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln)
|
rs139192433
|
0.00108
|
|
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp)
|
rs34489989
|
0.00108
|
|
NM_025074.7(FRAS1):c.641C>T (p.Pro214Leu)
|
rs200053639
|
0.00108
|
|
NM_052859.4(RFT1):c.303C>G (p.Gly101=)
|
rs148576979
|
0.00108
|
|
NM_080669.6(SLC46A1):c.158C>T (p.Ala53Val)
|
rs41297069
|
0.00108
|
|
NM_144670.6(A2ML1):c.4061+1G>A
|
rs202067416
|
0.00108
|
|
NM_181882.3(PRX):c.823C>A (p.Leu275Ile)
|
rs200033507
|
0.00108
|
|
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val)
|
rs146636139
|
0.00108
|
|
NM_201384.3(PLEC):c.6438G>A (p.Ala2146=)
|
rs374211586
|
0.00108
|
|
NM_201384.3(PLEC):c.7101G>A (p.Thr2367=)
|
rs202132558
|
0.00108
|
|
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp)
|
rs140895792
|
0.00108
|
|
NM_000091.5(COL4A3):c.1886C>T (p.Thr629Met)
|
rs139361545
|
0.00107
|
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
|
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser)
|
rs147307031
|
0.00107
|
|
NM_000153.4(GALC):c.659G>A (p.Arg220Gln)
|
rs199967869
|
0.00107
|
|
NM_000228.3(LAMB3):c.1051G>A (p.Glu351Lys)
|
rs114875539
|
0.00107
|
|
NM_000515.5(GH1):c.15C>T (p.Ser5=)
|
rs111957225
|
0.00107
|
|
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)
|
rs146429605
|
0.00107
|
|
NM_001080414.4(CCDC88C):c.2456A>G (p.Asp819Gly)
|
rs61743881
|
0.00107
|
|
NM_001114134.2(EPB42):c.1609G>A (p.Ala537Thr)
|
rs45495503
|
0.00107
|
|
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly)
|
rs139848756
|
0.00107
|
|
NM_001128840.3(CACNA1D):c.2467G>A (p.Val823Met)
|
rs35090700
|
0.00107
|
|
NM_001142864.4(PIEZO1):c.2815C>A (p.Leu939Met)
|
rs201226914
|
0.00107
|
|
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met)
|
rs150661999
|
0.00107
|
|
NM_001369.3(DNAH5):c.11437C>T (p.Arg3813Trp)
|
rs140948493
|
0.00107
|
|
NM_001374736.1(DST):c.18433C>T (p.Arg6145Trp)
|
rs193252082
|
0.00107
|
|
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln)
|
rs184394424
|
0.00107
|
|
NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr)
|
rs141980901
|
0.00107
|
|
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)
|
rs34988750
|
0.00107
|
|
NM_006420.3(ARFGEF2):c.1888G>A (p.Val630Ile)
|
rs146772848
|
0.00107
|
|
NM_006950.3(SYN1):c.1107C>T (p.Ile369=)
|
rs150248483
|
0.00107
|
|
NM_014780.5(CUL7):c.4659G>A (p.Glu1553=)
|
rs139243761
|
0.00107
|
|
NM_015346.4(ZFYVE26):c.1945G>A (p.Val649Met)
|
rs144790966
|
0.00107
|
|
NM_021939.4(FKBP10):c.1256C>T (p.Ser419Leu)
|
rs146422412
|
0.00107
|
|
NM_025009.5(CEP135):c.64C>T (p.Arg22Cys)
|
rs150681316
|
0.00107
|
|
NM_025114.4(CEP290):c.1716A>G (p.Leu572=)
|
rs372349042
|
0.00107
|
|
NM_144508.5(KNL1):c.2311G>A (p.Val771Ile)
|
rs151288115
|
0.00107
|
|
NM_201384.3(PLEC):c.3070G>A (p.Ala1024Thr)
|
rs376665854
|
0.00107
|
|
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser)
|
rs141609561
|
0.00107
|
|
NM_207361.6(FREM2):c.3539C>G (p.Pro1180Arg)
|
rs139236965
|
0.00107
|
|
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile)
|
rs55933907
|
0.00106
|
|
NM_000081.4(LYST):c.7506A>G (p.Gln2502=)
|
rs140434436
|
0.00106
|
|
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=)
|
rs61736827
|
0.00106
|
|
NM_000142.5(FGFR3):c.1497C>T (p.Ala499=)
|
rs140594137
|
0.00106
|
|
NM_000180.4(GUCY2D):c.3098C>T (p.Ser1033Leu)
|
rs146149224
|
0.00106
|
|
NM_000246.4(CIITA):c.460G>A (p.Asp154Asn)
|
rs76923280
|
0.00106
|
|
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His)
|
rs187705120
|
0.00106
|
|
NM_000359.3(TGM1):c.106C>A (p.Arg36Ser)
|
rs145197904
|
0.00106
|
|
NM_000404.4(GLB1):c.623G>A (p.Arg208His)
|
rs111840209
|
0.00106
|
|
NM_000478.6(ALPL):c.818C>T (p.Thr273Met)
|
rs148405563
|
0.00106
|
|
NM_000551.3(VHL):c.-97T>G
|
rs34271731
|
0.00106
|
|
NM_000551.4(VHL):c.-5A>C
|
rs35793832
|
0.00106
|
|
NM_001089.3(ABCA3):c.393C>T (p.Ala131=)
|
rs145383120
|
0.00106
|
|
NM_001164508.2(NEB):c.8719G>A (p.Gly2907Ser)
|
rs201707021
|
0.00106
|
|
NM_001256071.3(RNF213):c.6979A>G (p.Asn2327Asp)
|
rs138044665
|
0.00106
|
|
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His)
|
rs55669553
|
0.00106
|
|
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His)
|
rs149855485
|
0.00106
|
|
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr)
|
rs146181477
|
0.00106
|
|
NM_001369.3(DNAH5):c.1644+12A>G
|
rs201116549
|
0.00106
|
|
NM_001374828.1(ARID1B):c.3105C>T (p.Pro1035=)
|
rs144894118
|
0.00106
|
|
NM_001377229.1(DISP1):c.3931G>A (p.Gly1311Ser)
|
rs143356409
|
0.00106
|
|
NM_001384732.1(CPLANE1):c.8711A>G (p.Asp2904Gly)
|
rs144427399
|
0.00106
|
|
NM_001395413.1(POR):c.1882G>A (p.Val628Ile)
|
rs145782750
|
0.00106
|
|
NM_001458.5(FLNC):c.6998-5C>T
|
rs139030003
|
0.00106
|
|
NM_001999.4(FBN2):c.4100-9G>T
|
rs377002313
|
0.00106
|
|
NM_003482.4(KMT2D):c.1797G>A (p.Leu599=)
|
rs113282510
|
0.00106
|
|
NM_004393.6(DAG1):c.278T>C (p.Ile93Thr)
|
rs149218670
|
0.00106
|
|
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met)
|
rs145687082
|
0.00106
|
|
NM_005609.4(PYGM):c.999+20C>T
|
rs201711087
|
0.00106
|
|
NM_006348.5(COG5):c.1160G>A (p.Arg387His)
|
rs35258567
|
0.00106
|
|
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His)
|
rs80357459
|
0.00106
|
|
NM_016013.4(NDUFAF1):c.708G>A (p.Met236Ile)
|
rs150539399
|
0.00106
|
|
NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser)
|
rs139491925
|
0.00106
|
|
NM_020436.5(SALL4):c.1287T>G (p.Phe429Leu)
|
rs143818932
|
0.00106
|
|
NM_020971.3(SPTBN4):c.3927C>G (p.His1309Gln)
|
rs140544038
|
0.00106
|
|
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp)
|
rs111033457
|
0.00106
|
|
NM_022369.4(STRA6):c.826C>T (p.Arg276Cys)
|
rs142089943
|
0.00106
|
|
NM_022436.3(ABCG5):c.325T>C (p.Phe109Leu)
|
rs201889290
|
0.00106
|
|
NM_024027.5(COLEC11):c.191C>T (p.Thr64Met)
|
rs142369741
|
0.00106
|
|
NM_031471.6(FERMT3):c.1893C>T (p.Ile631=)
|
rs142025489
|
0.00106
|
|
NM_033100.4(CDHR1):c.2229G>A (p.Arg743=)
|
rs150969538
|
0.00106
|
|
NM_052865.4(MGME1):c.242C>G (p.Pro81Arg)
|
rs150656271
|
0.00106
|
|
NM_139125.4(MASP1):c.501C>G (p.Ser167=)
|
rs16861801
|
0.00106
|
|
NM_144508.5(KNL1):c.251-7T>A
|
rs555296963
|
0.00106
|
|
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=)
|
rs118158347
|
0.00106
|
|
NM_182961.4(SYNE1):c.21470G>A (p.Arg7157His)
|
rs34963077
|
0.00106
|
|
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr)
|
rs138617999
|
0.00106
|
|
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu)
|
rs144968313
|
0.00106
|
|
NM_201253.3(CRB1):c.484G>A (p.Val162Met)
|
rs137853138
|
0.00106
|
|
NM_201631.4(TGM5):c.1632T>G (p.Ser544Arg)
|
rs148226418
|
0.00106
|
|
NM_000037.4(ANK1):c.1387G>A (p.Val463Ile)
|
rs140085544
|
0.00105
|
|
NM_000053.4(ATP7B):c.*16G>A
|
rs193922100
|
0.00105
|
|
NM_000199.5(SGSH):c.390C>T (p.Thr130=)
|
rs111761143
|
0.00105
|
|
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser)
|
rs141440861
|
0.00105
|
|
NM_000302.4(PLOD1):c.137G>A (p.Arg46His)
|
rs142710681
|
0.00105
|
|
NM_000334.4(SCN4A):c.2478C>T (p.Ile826=)
|
rs371914255
|
0.00105
|
|
NM_000784.4(CYP27A1):c.646+4C>T
|
rs191313794
|
0.00105
|
|
NM_001080.3(ALDH5A1):c.1198G>A (p.Val400Ile)
|
rs147358733
|
0.00105
|
|
NM_001080414.4(CCDC88C):c.1878G>C (p.Lys626Asn)
|
rs78468999
|
0.00105
|
|
NM_001134407.3(GRIN2A):c.1354G>A (p.Val452Met)
|
rs145956175
|
0.00105
|
|
NM_001297.5(CNGB1):c.878G>A (p.Ser293Asn)
|
rs146170855
|
0.00105
|
|
NM_001849.4(COL6A2):c.1070C>G (p.Pro357Arg)
|
rs199929757
|
0.00105
|
|
NM_002180.3(IGHMBP2):c.2844G>A (p.Gly948=)
|
rs147918962
|
0.00105
|
|
NM_002234.4(KCNA5):c.79G>A (p.Gly27Ser)
|
rs201238766
|
0.00105
|
|
NM_002439.5(MSH3):c.1160T>A (p.Phe387Tyr)
|
rs140543135
|
0.00105
|
|
NM_003126.4(SPTA1):c.373G>A (p.Ala125Thr)
|
rs201771255
|
0.00105
|
|
NM_003793.4(CTSF):c.683C>G (p.Thr228Arg)
|
rs148611356
|
0.00105
|
|
NM_005045.4(RELN):c.474-7T>C
|
rs55693709
|
0.00105
|
|
NM_005245.4(FAT1):c.635A>T (p.Tyr212Phe)
|
rs61747592
|
0.00105
|
|
NM_006206.6(PDGFRA):c.1731G>A (p.Pro577=)
|
rs55830582
|
0.00105
|
|
NM_015072.5(TTLL5):c.670G>A (p.Val224Met)
|
rs17849666
|
0.00105
|
|
NM_016239.4(MYO15A):c.1552G>A (p.Glu518Lys)
|
rs189255177
|
0.00105
|
|
NM_022124.6(CDH23):c.2865C>T (p.Arg955=)
|
rs79636933
|
0.00105
|
|
NM_032581.4(HYCC1):c.191A>G (p.Tyr64Cys)
|
rs146913158
|
0.00105
|
|
NM_032656.4(DHX37):c.1270G>A (p.Ala424Thr)
|
rs114271603
|
0.00105
|
|
NM_033004.4(NLRP1):c.406G>A (p.Val136Ile)
|
rs142484301
|
0.00105
|
|
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=)
|
rs138388301
|
0.00105
|
|
NM_153816.6(SNX14):c.1074C>T (p.Gly358=)
|
rs41271627
|
0.00105
|
|
NM_173076.3(ABCA12):c.1141G>C (p.Val381Leu)
|
rs143513000
|
0.00105
|
|
NM_173076.3(ABCA12):c.6919A>G (p.Ile2307Val)
|
rs150196545
|
0.00105
|
|
NM_182961.4(SYNE1):c.12350C>T (p.Thr4117Met)
|
rs146567178
|
0.00105
|
|
NM_182961.4(SYNE1):c.13909G>A (p.Asp4637Asn)
|
rs142388112
|
0.00105
|
|
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro)
|
rs138760432
|
0.00105
|
|
NM_201384.3(PLEC):c.2844C>T (p.Pro948=)
|
rs200482255
|
0.00105
|
|
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)
|
rs113107803
|
0.00105
|
|
NM_000271.5(NPC1):c.66A>G (p.Ser22=)
|
rs144415945
|
0.00104
|
|
NM_000371.4(TTR):c.417G>A (p.Thr139=)
|
rs2276382
|
0.00104
|
|
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)
|
rs147213895
|
0.00104
|
|
NM_000543.5(SMPD1):c.762G>A (p.Leu254=)
|
rs143939609
|
0.00104
|
|
NM_001036.6(RYR3):c.6698G>A (p.Arg2233Gln)
|
rs199648816
|
0.00104
|
|
NM_001145809.2(MYH14):c.4033G>A (p.Ala1345Thr)
|
rs148054042
|
0.00104
|
|
NM_001184.4(ATR):c.7041+8G>A
|
rs201106004
|
0.00104
|
|
NM_001244008.2(KIF1A):c.3246C>T (p.Ala1082=)
|
rs368682964
|
0.00104
|
|
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met)
|
rs146627500
|
0.00104
|
|
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys)
|
rs56264840
|
0.00104
|
|
NM_001366385.1(CARD14):c.449T>G (p.Leu150Arg)
|
rs146214639
|
0.00104
|
|
NM_001384732.1(CPLANE1):c.5928G>A (p.Gly1976=)
|
rs34161326
|
0.00104
|
|
NM_001927.4(DES):c.18G>A (p.Ser6=)
|
rs199972656
|
0.00104
|
|
NM_001943.5(DSG2):c.221A>G (p.His74Arg)
|
rs201855245
|
0.00104
|
|
NM_001994.3(F13B):c.1935A>T (p.Arg645Ser)
|
rs149091258
|
0.00104
|
|
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys)
|
rs140743238
|
0.00104
|
|
NM_005422.4(TECTA):c.1085G>T (p.Ser362Ile)
|
rs149001418
|
0.00104
|
|
NM_006493.4(CLN5):c.-146T>C
|
rs201615354
|
0.00104
|
|
NM_006904.7(PRKDC):c.4435G>C (p.Val1479Leu)
|
rs199731143
|
0.00104
|
|
NM_014283.5(SUCO):c.673G>A (p.Glu225Lys)
|
rs41263742
|
0.00104
|
|
NM_014714.4(IFT140):c.4264G>A (p.Ala1422Thr)
|
rs144726977
|
0.00104
|
|
NM_015512.5(DNAH1):c.10438A>G (p.Ile3480Val)
|
rs143443167
|
0.00104
|
|
NM_016938.5(EFEMP2):c.139C>T (p.Pro47Ser)
|
rs144320036
|
0.00104
|
|
NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu)
|
rs1064422
|
0.00104
|
|
NM_024120.5(NDUFAF5):c.585T>C (p.Tyr195=)
|
rs150955045
|
0.00104
|
|
NM_025103.4(IFT74):c.163A>T (p.Ile55Leu)
|
rs62542664
|
0.00104
|
|
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp)
|
rs28997569
|
0.00104
|
|
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe)
|
rs41305898
|
0.00104
|
|
NM_052845.4(MMAB):c.10T>C (p.Cys4Arg)
|
rs146668962
|
0.00104
|
|
NM_130468.4(CHST14):c.807T>C (p.Asp269=)
|
rs139229738
|
0.00104
|
|
NM_138638.5(CFL2):c.21G>A (p.Val7=)
|
rs149700171
|
0.00104
|
|
NM_182977.3(NNT):c.3224C>T (p.Ala1075Val)
|
rs139947920
|
0.00104
|
|
NM_201253.3(CRB1):c.2103C>G (p.Pro701=)
|
rs144436610
|
0.00104
|
|
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)
|
rs138327406
|
0.00103
|
|
NM_000125.4(ESR1):c.406C>T (p.Pro136Ser)
|
rs201145204
|
0.00103
|
|
NM_000199.5(SGSH):c.181C>T (p.Arg61Cys)
|
rs142309764
|
0.00103
|
|
NM_000237.2(LPL):c.-241G>C
|
rs540525285
|
0.00103
|
|
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=)
|
rs145145840
|
0.00103
|
|
NM_000338.3(SLC12A1):c.2255C>T (p.Ala752Val)
|
rs137893258
|
0.00103
|
|
NM_000352.6(ABCC8):c.1920G>A (p.Ala640=)
|
rs146156937
|
0.00103
|
|
NM_000358.3(TGFBI):c.1998G>C (p.Arg666Ser)
|
rs121909217
|
0.00103
|
|
NM_000392.5(ABCC2):c.3614+6G>C
|
rs17222716
|
0.00103
|
|
NM_000426.4(LAMA2):c.1814C>T (p.Thr605Ile)
|
rs112388307
|
0.00103
|
|
NM_000543.5(SMPD1):c.1091+9C>T
|
rs143612450
|
0.00103
|
|
NM_000631.5(NCF4):c.172C>T (p.Arg58Cys)
|
rs143532979
|
0.00103
|
|
NM_000795.4(DRD2):c.928C>T (p.Pro310Ser)
|
rs1800496
|
0.00103
|
|
NM_001042432.2(CLN3):c.768C>T (p.Thr256=)
|
rs145967477
|
0.00103
|
|
NM_001112704.2(VAX1):c.642G>A (p.Leu214=)
|
rs554140675
|
0.00103
|
|
NM_001142864.4(PIEZO1):c.1270T>C (p.Tyr424His)
|
rs759627248
|
0.00103
|
|
NM_001160372.4(TRAPPC9):c.3149G>A (p.Arg1050Gln)
|
rs111768745
|
0.00103
|
|
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=)
|
rs147840220
|
0.00103
|
|
NM_001267550.2(TTN):c.20630T>C (p.Ile6877Thr)
|
rs142794598
|
0.00103
|
|
NM_001267550.2(TTN):c.81247T>C (p.Ser27083Pro)
|
rs186273940
|
0.00103
|
|
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly)
|
rs150430592
|
0.00103
|
|
NM_001267550.2(TTN):c.94283G>A (p.Arg31428His)
|
rs149375775
|
0.00103
|
|
NM_001277115.2(DNAH11):c.13257A>G (p.Gly4419=)
|
rs200445638
|
0.00103
|
|
NM_001370466.1(NOD2):c.1211C>T (p.Ser404Leu)
|
rs104895431
|
0.00103
|
|
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=)
|
rs150286673
|
0.00103
|
|
NM_001384474.1(LOXHD1):c.3673A>G (p.Ser1225Gly)
|
rs370149278
|
0.00103
|
|
NM_002386.4(MC1R):c.359T>C (p.Ile120Thr)
|
rs33932559
|
0.00103
|
|
NM_002617.4(PEX10):c.601-27A>G
|
rs144264865
|
0.00103
|
|
NM_002691.4(POLD1):c.3054G>A (p.Val1018=)
|
rs369613619
|
0.00103
|
|
NM_002838.5(PTPRC):c.1297G>A (p.Asp433Asn)
|
rs140403368
|
0.00103
|
|
NM_004239.4(TRIP11):c.1280T>C (p.Leu427Ser)
|
rs34761938
|
0.00103
|
|
NM_004380.3(CREBBP):c.5829G>A (p.Pro1943=)
|
rs546554430
|
0.00103
|
|
NM_004629.2(FANCG):c.739C>A (p.Gln247Lys)
|
rs145613634
|
0.00103
|
|
NM_004839.4(HOMER2):c.643C>T (p.Arg215Cys)
|
rs199835958
|
0.00103
|
|
NM_005245.4(FAT1):c.12622C>T (p.Arg4208Trp)
|
rs201960763
|
0.00103
|
|
NM_005591.4(MRE11):c.1798G>C (p.Glu600Gln)
|
rs145415033
|
0.00103
|
|
NM_006618.5(KDM5B):c.3520G>A (p.Val1174Met)
|
rs143647342
|
0.00103
|
|
NM_015192.4(PLCB1):c.1230G>A (p.Ser410=)
|
rs148848282
|
0.00103
|
|
NM_015512.5(DNAH1):c.1351A>G (p.Lys451Glu)
|
rs76591348
|
0.00103
|
|
NM_015662.3(IFT172):c.3530+7T>C
|
rs150882197
|
0.00103
|
|
NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr)
|
rs117390537
|
0.00103
|
|
NM_018136.5(ASPM):c.9276T>C (p.Gly3092=)
|
rs151142538
|
0.00103
|
|
NM_020442.6(VARS2):c.451T>C (p.Ser151Pro)
|
rs150863068
|
0.00103
|
|
NM_020884.7(MYH7B):c.4070A>C (p.Glu1357Ala)
|
rs202122911
|
0.00103
|
|
NM_022041.4(GAN):c.1162C>T (p.Leu388=)
|
rs73589395
|
0.00103
|
|
NM_022356.4(P3H1):c.1504G>C (p.Gly502Arg)
|
rs139259804
|
0.00103
|
|
NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr)
|
rs140690030
|
0.00103
|
|
NM_024079.5(ALG8):c.1211C>T (p.Ser404Leu)
|
rs146603801
|
0.00103
|
|
NM_024675.4(PALB2):c.1194G>A (p.Val398=)
|
rs61755173
|
0.00103
|
|
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp)
|
rs145643238
|
0.00103
|
|
NM_052859.4(RFT1):c.826+7T>C
|
rs192264403
|
0.00103
|
|
NM_130837.3(OPA1):c.85C>G (p.Pro29Ala)
|
rs145565705
|
0.00103
|
|
NM_133642.5(LARGE1):c.408+8G>A
|
rs141818070
|
0.00103
|
|
NM_144508.5(KNL1):c.4231G>A (p.Gly1411Arg)
|
rs150569450
|
0.00103
|
|
NM_173551.5(ANKS6):c.532G>A (p.Glu178Lys)
|
rs181546859
|
0.00103
|
|
NM_182914.3(SYNE2):c.3235A>G (p.Thr1079Ala)
|
rs192128801
|
0.00103
|
|
NM_182914.3(SYNE2):c.7483G>A (p.Gly2495Arg)
|
rs201036334
|
0.00103
|
|
NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=)
|
rs140136749
|
0.00103
|
|
NM_194248.3(OTOF):c.3917A>C (p.Lys1306Thr)
|
rs62641623
|
0.00103
|
|
NM_198129.4(LAMA3):c.4643A>G (p.Asp1548Gly)
|
rs201045690
|
0.00103
|
|
NM_198129.4(LAMA3):c.8829G>A (p.Arg2943=)
|
rs141472847
|
0.00103
|
|
NM_205850.3(SLC24A5):c.1442T>C (p.Leu481Ser)
|
rs146726548
|
0.00103
|
|
NM_000057.4(BLM):c.11T>C (p.Val4Ala)
|
rs144706057
|
0.00102
|
|
NM_000215.4(JAK3):c.252G>A (p.Pro84=)
|
rs139738701
|
0.00102
|
|
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met)
|
rs139524121
|
0.00102
|
|
NM_000436.4(OXCT1):c.1080T>C (p.Asp360=)
|
rs140869022
|
0.00102
|
|
NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser)
|
rs878852992
|
0.00102
|
|
NM_001040108.2(MLH3):c.394G>A (p.Ala132Thr)
|
rs148095325
|
0.00102
|
|
NM_001080394.4(SPIDR):c.884A>C (p.Lys295Thr)
|
rs139331110
|
0.00102
|
|
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp)
|
rs146632606
|
0.00102
|
|
NM_001134363.3(RBM20):c.1602C>T (p.Asp534=)
|
rs76048624
|
0.00102
|
|
NM_001134363.3(RBM20):c.280C>T (p.Leu94=)
|
rs182768779
|
0.00102
|
|
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly)
|
rs199578341
|
0.00102
|
|
NM_001163809.2(WDR81):c.4502G>A (p.Arg1501Gln)
|
rs139795210
|
0.00102
|
|
NM_001164508.2(NEB):c.18262-13C>T
|
rs374553944
|
0.00102
|
|
NM_001189.4(NKX3-2):c.148T>G (p.Cys50Gly)
|
rs371597026
|
0.00102
|
|
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val)
|
rs56347248
|
0.00102
|
|
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His)
|
rs138853909
|
0.00102
|
|
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val)
|
rs201562505
|
0.00102
|
|
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val)
|
rs55634791
|
0.00102
|
|
NM_001355436.2(SPTB):c.3015C>T (p.Ala1005=)
|
rs147235045
|
0.00102
|
|
NM_001358921.2(COQ2):c.170G>C (p.Ser57Thr)
|
rs550949678
|
0.00102
|
|
NM_001365536.1(SCN9A):c.1326G>A (p.Ala442=)
|
rs200065104
|
0.00102
|
|
NM_001371623.1(TCOF1):c.1034A>G (p.Glu345Gly)
|
rs150637771
|
0.00102
|
|
NM_001374736.1(DST):c.16495A>T (p.Ser5499Cys)
|
rs180765536
|
0.00102
|
|
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr)
|
rs142278066
|
0.00102
|
|
NM_001849.4(COL6A2):c.115+6del
|
rs578127995
|
0.00102
|
|
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser)
|
rs138392504
|
0.00102
|
|
NM_001999.4(FBN2):c.3351C>T (p.Asp1117=)
|
rs78484531
|
0.00102
|
|
NM_003038.5(SLC1A4):c.865G>A (p.Val289Met)
|
rs139319094
|
0.00102
|
|
NM_005787.6(ALG3):c.845C>T (p.Ala282Val)
|
rs2233466
|
0.00102
|
|
NM_005876.5(SPEG):c.3969G>T (p.Gln1323His)
|
rs55876679
|
0.00102
|
|
NM_006096.4(NDRG1):c.789G>A (p.Ser263=)
|
rs61755062
|
0.00102
|
|
NM_006420.3(ARFGEF2):c.811C>G (p.Pro271Ala)
|
rs143570842
|
0.00102
|
|
NM_012414.4(RAB3GAP2):c.112C>T (p.Pro38Ser)
|
rs138796052
|
0.00102
|
|
NM_014244.5(ADAMTS2):c.748G>A (p.Ala250Thr)
|
rs143764421
|
0.00102
|
|
NM_014908.4(DOLK):c.700A>G (p.Met234Val)
|
rs139787271
|
0.00102
|
|
NM_015102.5(NPHP4):c.2653A>C (p.Ser885Arg)
|
rs112206586
|
0.00102
|
|
NM_018131.5(CEP55):c.893G>A (p.Arg298Lys)
|
rs141349756
|
0.00102
|
|
NM_030665.4(RAI1):c.1524G>A (p.Thr508=)
|
rs141826168
|
0.00102
|
|
NM_030916.3(NECTIN4):c.1327C>T (p.Arg443Cys)
|
rs1537044
|
0.00102
|
|
NM_030962.4(SBF2):c.777G>A (p.Pro259=)
|
rs142261202
|
0.00102
|
|
NM_032790.4(ORAI1):c.100A>C (p.Ser34Arg)
|
rs781829024
|
0.00102
|
|
NM_080669.6(SLC46A1):c.22C>T (p.Pro8Ser)
|
rs41297065
|
0.00102
|
|
NM_133259.4(LRPPRC):c.1301G>A (p.Gly434Asp)
|
rs146515622
|
0.00102
|
|
NM_133379.5(TTN):c.11254T>A (p.Ser3752Thr)
|
rs144209883
|
0.00102
|
|
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=)
|
rs137925439
|
0.00102
|
|
NM_173477.5(USH1G):c.715A>C (p.Lys239Gln)
|
rs147967199
|
0.00102
|
|
NM_181507.2(HPS5):c.241G>A (p.Ala81Thr)
|
rs147053126
|
0.00102
|
|
NM_182961.4(SYNE1):c.18204G>C (p.Leu6068Phe)
|
rs138039375
|
0.00102
|
|
NM_182961.4(SYNE1):c.24956G>A (p.Arg8319Gln)
|
rs148008634
|
0.00102
|
|
NM_206933.4(USH2A):c.7060C>T (p.Arg2354Cys)
|
rs111033508
|
0.00102
|
|
NM_000037.4(ANK1):c.3102C>T (p.Asn1034=)
|
rs145169484
|
0.00101
|
|
NM_000046.5(ARSB):c.82C>T (p.Leu28=)
|
rs138587718
|
0.00101
|
|
NM_000092.5(COL4A4):c.1776T>C (p.Ala592=)
|
rs188655353
|
0.00101
|
|
NM_000100.4(CSTB):c.121G>A (p.Val41Met)
|
rs143153487
|
0.00101
|
|
NM_000152.5(GAA):c.726G>A (p.Ala242=)
|
rs148578399
|
0.00101
|
|
NM_000155.4(GALT):c.919T>A (p.Ser307Thr)
|
rs61735983
|
0.00101
|
|
NM_000162.5(GCK):c.-455A>G
|
rs140894490
|
0.00101
|
|
NM_000231.3(SGCG):c.539A>T (p.Glu180Val)
|
rs114160429
|
0.00101
|
|
NM_000286.3(PEX12):c.722G>T (p.Gly241Val)
|
rs139417458
|
0.00101
|
|
NM_000452.3(SLC10A2):c.108G>A (p.Thr36=)
|
rs141524545
|
0.00101
|
|
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=)
|
rs1800131
|
0.00101
|
|
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His)
|
rs146504767
|
0.00101
|
|
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr)
|
rs61750603
|
0.00101
|
|
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln)
|
rs75654767
|
0.00101
|
|
NM_001012339.3(DNAJC21):c.1261C>G (p.Gln421Glu)
|
rs146564466
|
0.00101
|
|
NM_001018116.2(CAVIN4):c.243T>G (p.Asn81Lys)
|
rs149165620
|
0.00101
|
|
NM_001099287.2(NIPAL4):c.260C>T (p.Thr87Met)
|
rs188020393
|
0.00101
|
|
NM_001101426.4(CRPPA):c.790-11C>T
|
rs141363557
|
0.00101
|
|
NM_001126108.2(SLC12A3):c.1567+7C>T
|
rs376819753
|
0.00101
|
|
NM_001128840.3(CACNA1D):c.2805G>C (p.Leu935=)
|
rs150266932
|
0.00101
|
|
NM_001142800.2(EYS):c.9185A>G (p.Asn3062Ser)
|
rs553840761
|
0.00101
|
|
NM_001353108.3(CEP63):c.905C>G (p.Thr302Ser)
|
rs142766824
|
0.00101
|
|
NM_001364905.1(LRBA):c.1713C>T (p.His571=)
|
rs145812385
|
0.00101
|
|
NM_001377.3(DYNC2H1):c.6551A>T (p.Asp2184Val)
|
rs201967064
|
0.00101
|
|
NM_001378609.3(OTOGL):c.1815G>T (p.Gln605His)
|
rs192234924
|
0.00101
|
|
NM_001482.3(GATM):c.69+13C>T
|
rs573273215
|
0.00101
|
|
NM_001491.3(GCNT2):c.254C>G (p.Pro85Arg)
|
rs17637756
|
0.00101
|
|
NM_001849.4(COL6A2):c.492C>T (p.His164=)
|
rs140929054
|
0.00101
|
|
NM_003630.3(PEX3):c.578+8A>G
|
rs200807211
|
0.00101
|
|
NM_003742.4(ABCB11):c.2811A>T (p.Gly937=)
|
rs192375476
|
0.00101
|
|
NM_004239.4(TRIP11):c.4069C>A (p.Gln1357Lys)
|
rs144829001
|
0.00101
|
|
NM_005529.7(HSPG2):c.745G>A (p.Val249Met)
|
rs148066529
|
0.00101
|
|
NM_006279.5(ST3GAL3):c.118+10G>C
|
rs147330005
|
0.00101
|
|
NM_006623.4(PHGDH):c.1559C>A (p.Ala520Glu)
|
rs151275800
|
0.00101
|
|
NM_007055.4(POLR3A):c.3280G>A (p.Asp1094Asn)
|
rs146861723
|
0.00101
|
|
NM_007078.3(LDB3):c.897-6834C>T
|
rs185972751
|
0.00101
|
|
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr)
|
rs200866893
|
0.00101
|
|
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=)
|
rs147295026
|
0.00101
|
|
NM_016341.4(PLCE1):c.5782G>A (p.Val1928Ile)
|
rs202171627
|
0.00101
|
|
NM_016343.4(CENPF):c.4313A>G (p.Tyr1438Cys)
|
rs142984971
|
0.00101
|
|
NM_020207.7(ERCC6L2):c.2855G>A (p.Arg952Lys)
|
rs185740878
|
0.00101
|
|
NM_020312.4(COQ9):c.323T>G (p.Leu108Arg)
|
rs11547480
|
0.00101
|
|
NM_020821.3(VPS13C):c.11143G>T (p.Asp3715Tyr)
|
rs62007358
|
0.00101
|
|
NM_020975.6(RET):c.1157C>T (p.Ala386Val)
|
rs115272158
|
0.00101
|
|
NM_020987.5(ANK3):c.9935C>T (p.Ala3312Val)
|
rs201625904
|
0.00101
|
|
NM_022124.6(CDH23):c.-15C>A
|
rs760922529
|
0.00101
|
|
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu)
|
rs142857685
|
0.00101
|
|
NM_024592.5(SRD5A3):c.566A>C (p.Tyr189Ser)
|
rs35496669
|
0.00101
|
|
NM_025074.7(FRAS1):c.10237C>T (p.Pro3413Ser)
|
rs189612722
|
0.00101
|
|
NM_025132.4(WDR19):c.2386G>A (p.Ala796Thr)
|
rs187332731
|
0.00101
|
|
NM_032382.5(COG8):c.386T>C (p.Val129Ala)
|
rs146248068
|
0.00101
|
|
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln)
|
rs145886657
|
0.00101
|
|
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn)
|
rs142422990
|
0.00101
|
|
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro)
|
rs147998933
|
0.00101
|
|
NM_182961.4(SYNE1):c.6484A>T (p.Ser2162Cys)
|
rs144435836
|
0.00101
|
|
NM_201384.3(PLEC):c.4980C>T (p.Ala1660=)
|
rs199612329
|
0.00101
|
|
NM_207361.6(FREM2):c.5417G>A (p.Gly1806Asp)
|
rs145208009
|
0.00101
|
|
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys)
|
rs55716624
|
0.00100
|
|
NM_000163.5(GHR):c.536G>A (p.Arg179His)
|
rs6181
|
0.00100
|
|
NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe)
|
rs201150919
|
0.00100
|
|
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met)
|
rs72650677
|
0.00100
|
|
NM_000455.5(STK11):c.894C>A (p.Phe298Leu)
|
rs199681533
|
0.00100
|
|
NM_000520.6(HEXA):c.1107C>T (p.Gly369=)
|
rs140337137
|
0.00100
|
|
NM_001098.3(ACO2):c.2278G>A (p.Glu760Lys)
|
rs115203053
|
0.00100
|
|
NM_001235.5(SERPINH1):c.580C>A (p.Arg194Ser)
|
rs141721173
|
0.00100
|
|
NM_001384140.1(PCDH15):c.2990A>G (p.Glu997Gly)
|
rs139087859
|
0.00100
|
|
NM_002662.5(PLD1):c.709G>T (p.Gly237Cys)
|
rs149535568
|
0.00100
|
|
NM_003239.5(TGFB3):c.164G>A (p.Ser55Asn)
|
rs143229915
|
0.00100
|
|
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=)
|
rs148688181
|
0.00100
|
|
NM_004525.3(LRP2):c.2603C>G (p.Thr868Ser)
|
rs150752263
|
0.00100
|
|
NM_014244.5(ADAMTS2):c.2958+4C>T
|
rs375345961
|
0.00100
|
|
NM_014989.7(RIMS1):c.2699-8T>C
|
rs149883454
|
0.00100
|
|
NM_017613.4(DONSON):c.1411G>A (p.Glu471Lys)
|
rs140592434
|
0.00100
|
|
NM_019892.6(INPP5E):c.1506G>A (p.Pro502=)
|
rs74880446
|
0.00100
|
|
NM_020070.4(IGLL1):c.437C>T (p.Thr146Met)
|
rs112775194
|
0.00100
|
|
NM_022369.4(STRA6):c.357C>T (p.Pro119=)
|
rs139775570
|
0.00100
|
|
NM_022437.3(ABCG8):c.712G>A (p.Glu238Lys)
|
rs34754243
|
0.00100
|
|
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile)
|
rs143301610
|
0.00100
|
|
NM_133642.5(LARGE1):c.1092C>T (p.Thr364=)
|
rs144216539
|
0.00100
|
|
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter)
|
rs143616240
|
0.00100
|
|
NM_139057.4(ADAMTS17):c.3044C>T (p.Ser1015Leu)
|
rs143891379
|
0.00100
|
|
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe)
|
rs41301343
|
0.00100
|
|
NM_198253.3(TERT):c.572G>C (p.Ser191Thr)
|
rs11952056
|
0.00100
|
|
NM_000037.4(ANK1):c.2960+13G>T
|
rs200746947
|
0.00099
|
|
NM_000260.4(MYO7A):c.*8C>T
|
rs370206645
|
0.00099
|
|
NM_000383.4(AIRE):c.789C>T (p.Gly263=)
|
rs138066507
|
0.00099
|
|
NM_001365536.1(SCN9A):c.3195C>T (p.Ser1065=)
|
rs111674454
|
0.00099
|
|
NM_001377.3(DYNC2H1):c.3500A>G (p.His1167Arg)
|
rs185613200
|
0.00099
|
|
NM_001382347.1(MYO5A):c.3136G>A (p.Val1046Met)
|
rs56132571
|
0.00099
|
|
NM_001770.6(CD19):c.1274C>T (p.Ser425Phe)
|
rs142818579
|
0.00099
|
|
NM_001849.4(COL6A2):c.2751G>T (p.Val917=)
|
rs111341650
|
0.00099
|
|
NM_003172.4(SURF1):c.211G>C (p.Val71Leu)
|
rs147993882
|
0.00099
|
|
NM_003737.4(DCHS1):c.8264G>A (p.Arg2755His)
|
rs141243126
|
0.00099
|
|
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp)
|
rs143030960
|
0.00099
|
|
NM_004999.4(MYO6):c.3530G>A (p.Arg1177His)
|
rs139664153
|
0.00099
|
|
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg)
|
rs41552412
|
0.00099
|
|
NM_014363.6(SACS):c.4015A>C (p.Ile1339Leu)
|
rs143144795
|
0.00099
|
|
NM_014363.6(SACS):c.9852A>G (p.Thr3284=)
|
rs147506904
|
0.00099
|
|
NM_015662.3(IFT172):c.4274G>A (p.Gly1425Asp)
|
rs139560074
|
0.00099
|
|
NM_018122.5(DARS2):c.188G>A (p.Gly63Asp)
|
rs114714497
|
0.00099
|
|
NM_020631.6(PLEKHG5):c.-88+6287G>A
|
rs554689677
|
0.00099
|
|
NM_020919.4(ALS2):c.3046C>G (p.Pro1016Ala)
|
rs41308840
|
0.00099
|
|
NM_021167.5(GATAD1):c.96T>G (p.His32Gln)
|
rs532003876
|
0.00099
|
|
NM_025132.4(WDR19):c.2715G>A (p.Lys905=)
|
rs200339331
|
0.00099
|
|
NM_138694.4(PKHD1):c.11002G>T (p.Asp3668Tyr)
|
rs114237522
|
0.00099
|
|
NM_139125.4(MASP1):c.1125C>T (p.His375=)
|
rs34207306
|
0.00099
|
|
NM_174916.3(UBR1):c.5135G>A (p.Arg1712His)
|
rs141828250
|
0.00099
|
|
NM_181882.3(PRX):c.3110A>G (p.Glu1037Gly)
|
rs148600818
|
0.00099
|
|
NM_182914.3(SYNE2):c.11479G>C (p.Val3827Leu)
|
rs138514054
|
0.00099
|
|
NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp)
|
rs148153079
|
0.00099
|
|
NM_000027.4(AGA):c.762C>T (p.Ala254=)
|
rs145465919
|
0.00098
|
|
NM_000040.3(APOC3):c.127G>A (p.Ala43Thr)
|
rs147210663
|
0.00098
|
|
NM_000057.4(BLM):c.3879A>G (p.Glu1293=)
|
rs28377085
|
0.00098
|
|
NM_000083.3(CLCN1):c.2364+10G>A
|
rs201855153
|
0.00098
|
|
NM_000094.4(COL7A1):c.5819C>T (p.Pro1940Leu)
|
rs149267939
|
0.00098
|
|
NM_000169.3(GLA):c.8T>C (p.Leu3Pro)
|
rs150547672
|
0.00098
|
|
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg)
|
rs184866544
|
0.00098
|
|
NM_000264.5(PTCH1):c.2173C>T (p.Pro725Ser)
|
rs149258400
|
0.00098
|
|
NM_000306.4(POU1F1):c.252C>T (p.His84=)
|
rs4988460
|
0.00098
|
|
NM_000352.6(ABCC8):c.1630+10C>T
|
rs188075767
|
0.00098
|
|
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg)
|
rs56035053
|
0.00098
|
|
NM_000440.3(PDE6A):c.2549G>T (p.Gly850Val)
|
rs138315990
|
0.00098
|
|
NM_000463.3(UGT1A1):c.326T>C (p.Val109Ala)
|
rs144217005
|
0.00098
|
|
NM_000542.5(SFTPB):c.869G>A (p.Gly290Glu)
|
rs45504597
|
0.00098
|
|
NM_000687.4(AHCY):c.219+7C>G
|
rs200332864
|
0.00098
|
|
NM_000789.4(ACE):c.1979C>G (p.Ser660Cys)
|
rs147429960
|
0.00098
|
|
NM_001001433.3(STX16):c.456G>T (p.Glu152Asp)
|
rs138647604
|
0.00098
|
|
NM_001082486.2(ACD):c.613A>G (p.Thr205Ala)
|
rs139438549
|
0.00098
|
|
NM_001098816.3(TENM4):c.1553G>A (p.Arg518Gln)
|
rs201191369
|
0.00098
|
|
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=)
|
rs200278701
|
0.00098
|
|
NM_001126108.2(SLC12A3):c.1284C>T (p.Thr428=)
|
rs34216426
|
0.00098
|
|
NM_001127649.3(PEX26):c.497G>A (p.Arg166Gln)
|
rs34194489
|
0.00098
|
|
NM_001130987.2(DYSF):c.2982C>T (p.Asn994=)
|
rs142404822
|
0.00098
|
|
NM_001144952.2(SDK2):c.2810G>A (p.Arg937Gln)
|
rs144141099
|
0.00098
|
|
NM_001171.6(ABCC6):c.2695C>T (p.Arg899Cys)
|
rs11861980
|
0.00098
|
|
NM_001195263.2(PDZD7):c.2357G>A (p.Arg786Gln)
|
rs113570783
|
0.00098
|
|
NM_001256317.3(TMPRSS3):c.1360T>C (p.Ter454Arg)
|
rs149919890
|
0.00098
|
|
NM_001382273.1(TNK2):c.1610G>T (p.Ser537Ile)
|
rs143787673
|
0.00098
|
|
NM_001384474.1(LOXHD1):c.4440G>A (p.Val1480=)
|
rs76946640
|
0.00098
|
|
NM_001457.4(FLNB):c.1697G>A (p.Arg566Gln)
|
rs150747960
|
0.00098
|
|
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln)
|
rs144884147
|
0.00098
|
|
NM_002334.4(LRP4):c.3064A>G (p.Asn1022Asp)
|
rs61742871
|
0.00098
|
|
NM_003384.3(VRK1):c.175T>G (p.Ser59Ala)
|
rs61736727
|
0.00098
|
|
NM_003742.4(ABCB11):c.1281C>T (p.Phe427=)
|
rs11568360
|
0.00098
|
|
NM_004341.5(CAD):c.3541C>T (p.Arg1181Trp)
|
rs145562987
|
0.00098
|
|
NM_004525.3(LRP2):c.6176C>T (p.Ser2059Phe)
|
rs148299415
|
0.00098
|
|
NM_004560.4(ROR2):c.1670C>T (p.Ser557Leu)
|
rs56099091
|
0.00098
|
|
NM_004959.5(NR5A1):c.368G>C (p.Gly123Ala)
|
rs200163795
|
0.00098
|
|
NM_005045.4(RELN):c.5200C>G (p.Leu1734Val)
|
rs362800
|
0.00098
|
|
NM_005045.4(RELN):c.6141C>T (p.Phe2047=)
|
rs79161241
|
0.00098
|
|
NM_005592.4(MUSK):c.1026G>A (p.Ala342=)
|
rs200434321
|
0.00098
|
|
NM_005876.5(SPEG):c.9764G>A (p.Arg3255His)
|
rs55821615
|
0.00098
|
|
NM_005883.3(APC2):c.209C>T (p.Thr70Met)
|
rs144391493
|
0.00098
|
|
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr)
|
rs4986854
|
0.00098
|
|
NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr)
|
rs141463026
|
0.00098
|
|
NM_014780.5(CUL7):c.2115C>T (p.His705=)
|
rs143128153
|
0.00098
|
|
NM_015311.3(OBSL1):c.4069C>T (p.Pro1357Ser)
|
rs200543358
|
0.00098
|
|
NM_015404.4(WHRN):c.1149C>T (p.Thr383=)
|
rs149558159
|
0.00098
|
|
NM_015404.4(WHRN):c.1943C>A (p.Ser648Tyr)
|
rs142653982
|
0.00098
|
|
NM_017491.5(WDR1):c.512C>T (p.Ala171Val)
|
rs182603736
|
0.00098
|
|
NM_018993.4(RIN2):c.1004C>G (p.Pro335Arg)
|
rs200780805
|
0.00098
|
|
NM_021922.3(FANCE):c.284A>G (p.Gln95Arg)
|
rs149097636
|
0.00098
|
|
NM_021922.3(FANCE):c.696G>A (p.Glu232=)
|
rs147356927
|
0.00098
|
|
NM_032380.5(GFM2):c.1424C>T (p.Ala475Val)
|
rs142986380
|
0.00098
|
|
NM_173660.5(DOK7):c.331+9C>T
|
rs370879328
|
0.00098
|
|
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr)
|
rs141068211
|
0.00098
|
|
NM_194248.3(OTOF):c.2123G>A (p.Arg708Gln)
|
rs145019640
|
0.00098
|
|
NM_206933.4(USH2A):c.15494C>G (p.Ala5165Gly)
|
rs146892520
|
0.00098
|
|
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=)
|
rs11571655
|
0.00097
|
|
NM_000199.5(SGSH):c.1446C>T (p.Ala482=)
|
rs113679696
|
0.00097
|
|
NM_000209.4(PDX1):c.543C>T (p.Val181=)
|
rs75498935
|
0.00097
|
|
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=)
|
rs143011005
|
0.00097
|
|
NM_000350.3(ABCA4):c.1500G>A (p.Arg500=)
|
rs139050119
|
0.00097
|
|
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val)
|
rs117874766
|
0.00097
|
|
NM_001039141.3(TRIOBP):c.1690A>G (p.Thr564Ala)
|
rs777175618
|
0.00097
|
|
NM_001128228.3(TPRN):c.655C>A (p.Arg219Ser)
|
rs559890679
|
0.00097
|
|
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile)
|
rs139192633
|
0.00097
|
|
NM_001318510.2(ACSL4):c.806+3A>G
|
rs183171123
|
0.00097
|
|
NM_001349206.2(LPIN1):c.1225C>G (p.Gln409Glu)
|
rs146529487
|
0.00097
|
|
NM_001378454.1(ALMS1):c.11407C>T (p.Pro3803Ser)
|
rs189032342
|
0.00097
|
|
NM_002335.4(LRP5):c.4195G>A (p.Val1399Ile)
|
rs113315676
|
0.00097
|
|
NM_002382.5(MAX):c.172-6230G>A
|
rs148339628
|
0.00097
|
|
NM_003036.4(SKI):c.798C>T (p.Ala266=)
|
rs149642284
|
0.00097
|
|
NM_003476.5(CSRP3):c.299G>A (p.Arg100His)
|
rs138218523
|
0.00097
|
|
NM_004168.4(SDHA):c.1396G>A (p.Ala466Thr)
|
rs111387770
|
0.00097
|
|
NM_004281.4(BAG3):c.1436C>T (p.Ala479Val)
|
rs34656239
|
0.00097
|
|
NM_004565.3(PEX14):c.267C>G (p.Val89=)
|
rs146359055
|
0.00097
|
|
NM_006907.4(PYCR1):c.334C>T (p.Arg112Trp)
|
rs147653673
|
0.00097
|
|
NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe)
|
rs139337049
|
0.00097
|
|
NM_014244.5(ADAMTS2):c.1122C>T (p.Ser374=)
|
rs145109914
|
0.00097
|
|
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile)
|
rs150981983
|
0.00097
|
|
NM_015295.3(SMCHD1):c.5878+8T>G
|
rs144115061
|
0.00097
|
|
NM_015909.4(NBAS):c.4228A>G (p.Thr1410Ala)
|
rs143724414
|
0.00097
|
|
NM_017837.4(PIGV):c.349A>G (p.Ile117Val)
|
rs142192097
|
0.00097
|
|
NM_018979.4(WNK1):c.5638G>A (p.Ala1880Thr)
|
rs72650763
|
0.00097
|
|
NM_018993.4(RIN2):c.1045C>T (p.Pro349Ser)
|
rs201486809
|
0.00097
|
|
NM_020779.4(WDR35):c.3335A>G (p.Lys1112Arg)
|
rs138007924
|
0.00097
|
|
NM_025243.4(SLC19A3):c.1056C>G (p.Phe352Leu)
|
rs149806390
|
0.00097
|
|
NM_032316.3(NICN1):c.*2307G>C
|
rs544461335
|
0.00097
|
|
NM_144508.5(KNL1):c.6482A>G (p.Asp2161Gly)
|
rs142872154
|
0.00097
|
|
NM_173602.3(DIP2B):c.2374A>G (p.Ile792Val)
|
rs11169525
|
0.00097
|
|
NM_198129.4(LAMA3):c.2809C>T (p.Leu937Phe)
|
rs61751701
|
0.00097
|
|
NM_198578.4(LRRK2):c.3777+7C>T
|
rs41286480
|
0.00097
|
|
NM_198859.4(PRICKLE2):c.2191A>G (p.Ser731Gly)
|
rs148689951
|
0.00097
|
|
NM_201384.3(PLEC):c.1969A>T (p.Ser657Cys)
|
rs199843296
|
0.00097
|
|
NM_000038.6(APC):c.1825G>A (p.Val609Ile)
|
rs147863331
|
0.00096
|
|
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)
|
rs34231402
|
0.00096
|
|
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala)
|
rs1800061
|
0.00096
|
|
NM_000059.4(BRCA2):c.9648+84G>A
|
rs81002832
|
0.00096
|
|
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu)
|
rs141200145
|
0.00096
|
|
NM_000212.3(ITGB3):c.970A>G (p.Lys324Glu)
|
rs147263592
|
0.00096
|
|
NM_000282.4(PCCA):c.2172C>T (p.Leu724=)
|
rs150352833
|
0.00096
|
|
NM_000466.3(PEX1):c.3371A>G (p.Asn1124Ser)
|
rs147870525
|
0.00096
|
|
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=)
|
rs56394008
|
0.00096
|
|
NM_000751.3(CHRND):c.1400G>A (p.Arg467His)
|
rs148939701
|
0.00096
|
|
NM_000878.5(IL2RB):c.459A>C (p.Glu153Asp)
|
rs149258462
|
0.00096
|
|
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly)
|
rs139139859
|
0.00096
|
|
NM_001010874.5(TECRL):c.893T>C (p.Val298Ala)
|
rs146610448
|
0.00096
|
|
NM_001038603.3(MARVELD2):c.900G>A (p.Leu300=)
|
rs138680809
|
0.00096
|
|
NM_001042432.1(CLN3):c.-264C>G
|
rs187163584
|
0.00096
|
|
NM_001080.3(ALDH5A1):c.13A>G (p.Ile5Val)
|
rs200398000
|
0.00096
|
|
NM_001083961.2(WDR62):c.2211-4G>A
|
rs202109439
|
0.00096
|
|
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val)
|
rs141818764
|
0.00096
|
|
NM_001170629.2(CHD8):c.341C>T (p.Thr114Met)
|
rs111250264
|
0.00096
|
|
NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=)
|
rs146402942
|
0.00096
|
|
NM_001252024.2(TRPM1):c.3293+5G>A
|
rs201442201
|
0.00096
|
|
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro)
|
rs185683410
|
0.00096
|
|
NM_001267550.2(TTN):c.88721G>A (p.Arg29574His)
|
rs111727915
|
0.00096
|
|
NM_001278512.2(AP3B2):c.189G>A (p.Ala63=)
|
rs145841558
|
0.00096
|
|
NM_001291303.3(FAT4):c.7052A>G (p.Asn2351Ser)
|
rs145105421
|
0.00096
|
|
NM_001329943.3(KIAA0586):c.3862G>A (p.Asp1288Asn)
|
rs181413894
|
0.00096
|
|
NM_001330078.2(NRXN1):c.4275G>T (p.Arg1425=)
|
rs143495349
|
0.00096
|
|
NM_001365276.2(TNXB):c.7750C>T (p.Arg2584Cys)
|
rs201690494
|
0.00096
|
|
NM_001365536.1(SCN9A):c.2766C>T (p.Arg922=)
|
rs199653503
|
0.00096
|
|
NM_001382391.1(CSPP1):c.1693G>A (p.Val565Ile)
|
rs199608505
|
0.00096
|
|
NM_001457.4(FLNB):c.808A>G (p.Met270Val)
|
rs145036794
|
0.00096
|
|
NM_001853.4(COL9A3):c.388G>A (p.Gly130Ser)
|
rs139401633
|
0.00096
|
|
NM_001854.4(COL11A1):c.3231G>A (p.Pro1077=)
|
rs147247206
|
0.00096
|
|
NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=)
|
rs139926138
|
0.00096
|
|
NM_002292.4(LAMB2):c.1306G>A (p.Gly436Ser)
|
rs142402808
|
0.00096
|
|
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr)
|
rs144899305
|
0.00096
|
|
NM_002470.4(MYH3):c.4082C>T (p.Ala1361Val)
|
rs140218185
|
0.00096
|
|
NM_002618.4(PEX13):c.229T>A (p.Ser77Thr)
|
rs150161574
|
0.00096
|
|
NM_004046.6(ATP5F1A):c.25G>A (p.Ala9Thr)
|
rs141639003
|
0.00096
|
|
NM_004369.4(COL6A3):c.2292C>T (p.Asn764=)
|
rs116066149
|
0.00096
|
|
NM_005276.4(GPD1):c.431T>C (p.Met144Thr)
|
rs146239968
|
0.00096
|
|
NM_006348.5(COG5):c.298C>T (p.Leu100Phe)
|
rs150351852
|
0.00096
|
|
NM_006445.4(PRPF8):c.5352C>T (p.Asn1784=)
|
rs141456140
|
0.00096
|
|
NM_007272.3(CTRC):c.494-6C>T
|
rs111790169
|
0.00096
|
|
NM_012293.3(PXDN):c.1112C>T (p.Pro371Leu)
|
rs201592851
|
0.00096
|
|
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala)
|
rs138481453
|
0.00096
|
|
NM_016038.4(SBDS):c.127G>T (p.Val43Leu)
|
rs147652512
|
0.00096
|
|
NM_017837.4(PIGV):c.348G>A (p.Leu116=)
|
rs148662665
|
0.00096
|
|
NM_018979.4(WNK1):c.2206A>G (p.Ile736Val)
|
rs147099510
|
0.00096
|
|
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr)
|
rs200334298
|
0.00096
|
|
NM_021815.5(SLC5A7):c.1237G>A (p.Val413Ile)
|
rs138945146
|
0.00096
|
|
NM_022437.3(ABCG8):c.1924G>A (p.Ala642Thr)
|
rs113005049
|
0.00096
|
|
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp)
|
rs141528309
|
0.00096
|
|
NM_025233.7(COASY):c.-1C>T
|
rs147852474
|
0.00096
|
|
NM_031448.6(C19orf12):c.313G>A (p.Val105Met)
|
rs146492790
|
0.00096
|
|
NM_032578.4(MYPN):c.65C>G (p.Ala22Gly)
|
rs145142157
|
0.00096
|
|
NM_033028.5(BBS4):c.1049A>G (p.Asn350Ser)
|
rs150395094
|
0.00096
|
|
NM_133459.4(CCBE1):c.431C>T (p.Thr144Met)
|
rs147974432
|
0.00096
|
|
NM_152564.5(VPS13B):c.9903G>A (p.Glu3301=)
|
rs150573530
|
0.00096
|
|
NM_173689.7(CRB2):c.737G>A (p.Arg246His)
|
rs150339335
|
0.00096
|
|
NM_182943.3(PLOD2):c.587C>T (p.Thr196Ile)
|
rs148118826
|
0.00096
|
|
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu)
|
rs80356576
|
0.00096
|
|
NM_201378.4(PLEC):c.71-11599T>C
|
rs201910266
|
0.00096
|
|
NM_000170.3(GLDC):c.2964G>A (p.Arg988=)
|
rs146045718
|
0.00095
|
|
NM_000180.4(GUCY2D):c.1236C>T (p.Asp412=)
|
rs61749678
|
0.00095
|
|
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)
|
rs145532615
|
0.00095
|
|
NM_000391.4(TPP1):c.542C>T (p.Ser181Phe)
|
rs139059149
|
0.00095
|
|
NM_000404.4(GLB1):c.1588C>T (p.Arg530Cys)
|
rs371397760
|
0.00095
|
|
NM_000479.5(AMH):c.991T>C (p.Ser331Pro)
|
rs556078854
|
0.00095
|
|
NM_001128126.3(AP4S1):c.29A>G (p.Lys10Arg)
|
rs147135554
|
0.00095
|
|
NM_001164508.2(NEB):c.3986A>C (p.Asp1329Ala)
|
rs115986826
|
0.00095
|
|
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp)
|
rs140319117
|
0.00095
|
|
NM_001371986.1(UNC80):c.9760C>A (p.Gln3254Lys)
|
rs189916631
|
0.00095
|
|
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu)
|
rs56355310
|
0.00095
|
|
NM_001374736.1(DST):c.20438A>G (p.Asn6813Ser)
|
rs199628430
|
0.00095
|
|
NM_001384479.1(AGT):c.704T>G (p.Leu235Arg)
|
rs5041
|
0.00095
|
|
NM_001966.4(EHHADH):c.983C>T (p.Ser328Leu)
|
rs144464757
|
0.00095
|
|
NM_002335.4(LRP5):c.263A>G (p.Lys88Arg)
|
rs78219242
|
0.00095
|
|
NM_004239.4(TRIP11):c.4063T>A (p.Ser1355Thr)
|
rs138661581
|
0.00095
|
|
NM_005359.6(SMAD4):c.787+1_788-1del
|
rs1599189646
|
0.00095
|
|
NM_006019.4(TCIRG1):c.1209G>A (p.Met403Ile)
|
rs140191063
|
0.00095
|
|
NM_016653.3(MAP3K20):c.1640A>T (p.Gln547Leu)
|
rs188158548
|
0.00095
|
|
NM_017433.5(MYO3A):c.585+4A>T
|
rs202189844
|
0.00095
|
|
NM_018136.5(ASPM):c.5452C>T (p.Arg1818Cys)
|
rs41299625
|
0.00095
|
|
NM_018965.4(TREM2):c.399G>T (p.Leu133=)
|
rs144250872
|
0.00095
|
|
NM_031407.7(HUWE1):c.3663G>A (p.Ser1221=)
|
rs142126065
|
0.00095
|
|
NM_152743.4(BRAT1):c.434C>T (p.Ala145Val)
|
rs140833277
|
0.00095
|
|
NM_182548.4(LHFPL5):c.43C>T (p.His15Tyr)
|
rs149941106
|
0.00095
|
|
NM_207361.6(FREM2):c.2367G>A (p.Pro789=)
|
rs140101984
|
0.00095
|
|
NM_000123.4(ERCC5):c.1110T>A (p.Arg370=)
|
rs150791877
|
0.00094
|
|
NM_000426.4(LAMA2):c.2755C>T (p.Arg919Cys)
|
rs138018456
|
0.00094
|
|
NM_000440.3(PDE6A):c.2038A>G (p.Met680Val)
|
rs148598583
|
0.00094
|
|
NM_000452.3(SLC10A2):c.1038C>T (p.Asp346=)
|
rs147498129
|
0.00094
|
|
NM_000496.3(CRYBB2):c.559G>A (p.Val187Met)
|
rs143080187
|
0.00094
|
|
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile)
|
rs61750604
|
0.00094
|
|
NM_000817.3(GAD1):c.1173C>T (p.Asn391=)
|
rs34856125
|
0.00094
|
|
NM_000817.3(GAD1):c.1251C>T (p.Leu417=)
|
rs35426017
|
0.00094
|
|
NM_000817.3(GAD1):c.807G>A (p.Pro269=)
|
rs34100397
|
0.00094
|
|
NM_001008388.5(CISD2):c.12G>A (p.Glu4=)
|
rs145312923
|
0.00094
|
|
NM_001130987.2(DYSF):c.4021C>G (p.Gln1341Glu)
|
rs147950418
|
0.00094
|
|
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr)
|
rs72677243
|
0.00094
|
|
NM_001354604.2(MITF):c.1280T>C (p.Val427Ala)
|
rs2055006
|
0.00094
|
|
NM_001735.3(C5):c.3029C>T (p.Ala1010Val)
|
rs34362143
|
0.00094
|
|
NM_001813.3(CENPE):c.6203G>C (p.Arg2068Thr)
|
rs148969710
|
0.00094
|
|
NM_003465.3(CHIT1):c.447C>T (p.Ala149=)
|
rs139891908
|
0.00094
|
|
NM_003500.4(ACOX2):c.1582C>G (p.Gln528Glu)
|
rs143228600
|
0.00094
|
|
NM_004415.4(DSP):c.88G>A (p.Val30Met)
|
rs121912998
|
0.00094
|
|
NM_004655.4(AXIN2):c.1101C>T (p.Pro367=)
|
rs141697521
|
0.00094
|
|
NM_004807.3(HS6ST1):c.1121G>A (p.Ser374Asn)
|
rs61732021
|
0.00094
|
|
NM_004836.7(EIF2AK3):c.112G>A (p.Ala38Thr)
|
rs886042833
|
0.00094
|
|
NM_005559.4(LAMA1):c.6257A>C (p.Lys2086Thr)
|
rs142934543
|
0.00094
|
|
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile)
|
rs150070966
|
0.00094
|
|
NM_012414.4(RAB3GAP2):c.3842A>G (p.Tyr1281Cys)
|
rs34081806
|
0.00094
|
|
NM_013280.5(FLRT1):c.64G>A (p.Val22Ile)
|
rs143337663
|
0.00094
|
|
NM_014714.4(IFT140):c.1824A>G (p.Thr608=)
|
rs35433680
|
0.00094
|
|
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)
|
rs137982921
|
0.00094
|
|
NM_016616.5(NME8):c.610A>G (p.Ile204Val)
|
rs146777129
|
0.00094
|
|
NM_017565.4(FAM20A):c.193G>A (p.Gly65Ser)
|
rs143371801
|
0.00094
|
|
NM_017636.4(TRPM4):c.2740A>T (p.Lys914Ter)
|
rs140799936
|
0.00094
|
|
NM_018668.5(VPS33B):c.1274G>A (p.Ser425Asn)
|
rs139709507
|
0.00094
|
|
NM_020812.4(DOCK6):c.2594G>A (p.Arg865His)
|
rs199922090
|
0.00094
|
|
NM_022437.3(ABCG8):c.1941C>G (p.Val647=)
|
rs147991100
|
0.00094
|
|
NM_024079.5(ALG8):c.251A>G (p.Tyr84Cys)
|
rs61995921
|
0.00094
|
|
NM_024537.4(CARS2):c.302G>A (p.Arg101Gln)
|
rs112070421
|
0.00094
|
|
NM_032447.5(FBN3):c.3088G>A (p.Asp1030Asn)
|
rs142237067
|
0.00094
|
|
NM_054012.4(ASS1):c.1134C>T (p.Asn378=)
|
rs140715869
|
0.00094
|
|
NM_153603.4(COG7):c.850A>T (p.Ile284Phe)
|
rs115605801
|
0.00094
|
|
NM_173500.4(TTBK2):c.3329G>A (p.Arg1110His)
|
rs146279300
|
0.00094
|
|
NM_198525.3(KIF7):c.3960T>A (p.Pro1320=)
|
rs141028210
|
0.00094
|
|
NM_198576.4(AGRN):c.2501G>A (p.Arg834Gln)
|
rs146243145
|
0.00094
|
|
NM_201525.4(ADGRG1):c.243C>T (p.Phe81=)
|
rs58068378
|
0.00094
|
|
NM_000016.6(ACADM):c.994C>T (p.Leu332=)
|
rs138098371
|
0.00093
|
|
NM_000036.3(AMPD1):c.512G>A (p.Gly171Asp)
|
rs142582318
|
0.00093
|
|
NM_000037.4(ANK1):c.2132A>G (p.Tyr711Cys)
|
rs139375455
|
0.00093
|
|
NM_000057.4(BLM):c.3359-13A>G
|
rs200250931
|
0.00093
|
|
NM_000094.4(COL7A1):c.8568C>T (p.Ser2856=)
|
rs148454724
|
0.00093
|
|
NM_000193.4(SHH):c.876G>A (p.Gly292=)
|
rs112055654
|
0.00093
|
|
NM_000287.4(PEX6):c.1677C>A (p.Asp559Glu)
|
rs61732159
|
0.00093
|
|
NM_000352.6(ABCC8):c.1874C>T (p.Ala625Val)
|
rs148709148
|
0.00093
|
|
NM_000384.3(APOB):c.4838G>C (p.Ser1613Thr)
|
rs61742247
|
0.00093
|
|
NM_000466.3(PEX1):c.2926+8T>C
|
rs369877998
|
0.00093
|
|
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr)
|
rs142822371
|
0.00093
|
|
NM_000719.7(CACNA1C):c.3049-10C>T
|
rs186741807
|
0.00093
|
|
NM_001012339.3(DNAJC21):c.656C>T (p.Ala219Val)
|
rs144046917
|
0.00093
|
|
NM_001040108.2(MLH3):c.2670G>A (p.Met890Ile)
|
rs147021156
|
0.00093
|
|
NM_001080516.2(GRXCR2):c.220C>G (p.Gln74Glu)
|
rs151087704
|
0.00093
|
|
NM_001165967.2(HES7):c.420G>A (p.Pro140=)
|
rs200833034
|
0.00093
|
|
NM_001244710.2(GFPT1):c.1882G>A (p.Val628Ile)
|
rs190072721
|
0.00093
|
|
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln)
|
rs72650034
|
0.00093
|
|
NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile)
|
rs183245562
|
0.00093
|
|
NM_001292063.2(OTOG):c.2868-3C>T
|
rs565665118
|
0.00093
|
|
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr)
|
rs143999854
|
0.00093
|
|
NM_001360016.2(G6PD):c.1458-13C>G
|
rs371772243
|
0.00093
|
|
NM_001367624.2(ZNF469):c.9373C>T (p.Arg3125Cys)
|
rs543370102
|
0.00093
|
|
NM_001369268.1(ACAN):c.7092G>A (p.Lys2364=)
|
rs368979713
|
0.00093
|
|
NM_001377.3(DYNC2H1):c.12643A>C (p.Ile4215Leu)
|
rs142920070
|
0.00093
|
|
NM_001384732.1(CPLANE1):c.7408A>G (p.Arg2470Gly)
|
rs144391535
|
0.00093
|
|
NM_001395413.1(POR):c.308A>G (p.His103Arg)
|
rs200622912
|
0.00093
|
|
NM_001737.5(C9):c.974C>T (p.Ala325Val)
|
rs147068084
|
0.00093
|
|
NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp)
|
rs143502850
|
0.00093
|
|
NM_001852.4(COL9A2):c.775G>A (p.Gly259Ser)
|
rs148362133
|
0.00093
|
|
NM_001876.4(CPT1A):c.853A>C (p.Lys285Gln)
|
rs77477448
|
0.00093
|
|
NM_001927.4(DES):c.935A>C (p.Asp312Ala)
|
rs148947510
|
0.00093
|
|
NM_002225.5(IVD):c.164A>T (p.Lys55Met)
|
rs145999491
|
0.00093
|
|
NM_002227.4(JAK1):c.1951G>A (p.Val651Met)
|
rs149968614
|
0.00093
|
|
NM_002968.3(SALL1):c.411C>T (p.Ser137=)
|
rs151051011
|
0.00093
|
|
NM_003114.5(SPAG1):c.413T>C (p.Leu138Pro)
|
rs141605537
|
0.00093
|
|
NM_003664.5(AP3B1):c.942G>A (p.Ala314=)
|
rs146871001
|
0.00093
|
|
NM_004239.4(TRIP11):c.1589G>A (p.Ser530Asn)
|
rs138304419
|
0.00093
|
|
NM_004999.4(MYO6):c.92T>C (p.Ile31Thr)
|
rs148735953
|
0.00093
|
|
NM_005529.7(HSPG2):c.10512C>T (p.His3504=)
|
rs55875654
|
0.00093
|
|
NM_005664.4(MKRN3):c.425G>C (p.Gly142Ala)
|
rs144864886
|
0.00093
|
|
NM_005751.5(AKAP9):c.8286A>C (p.Lys2762Asn)
|
rs144875383
|
0.00093
|
|
NM_005883.3(APC2):c.3656C>T (p.Ala1219Val)
|
rs137877386
|
0.00093
|
|
NM_006019.4(TCIRG1):c.1536C>T (p.Tyr512=)
|
rs138049763
|
0.00093
|
|
NM_012309.5(SHANK2):c.2338A>C (p.Lys780Gln)
|
rs55968949
|
0.00093
|
|
NM_012472.6(DNAAF11):c.31C>T (p.Arg11Trp)
|
rs115536785
|
0.00093
|
|
NM_015972.4(POLR1D):c.329T>C (p.Val110Ala)
|
rs138256149
|
0.00093
|
|
NM_017547.4(FOXRED1):c.1171T>G (p.Leu391Val)
|
rs138061928
|
0.00093
|
|
NM_017721.5(CC2D1A):c.2125+18G>A
|
rs201665826
|
0.00093
|
|
NM_018136.5(ASPM):c.7670C>G (p.Ser2557Cys)
|
rs78215018
|
0.00093
|
|
NM_020738.4(KIDINS220):c.2569G>A (p.Val857Ile)
|
rs200104720
|
0.00093
|
|
NM_020779.4(WDR35):c.2678T>C (p.Leu893Ser)
|
rs151047156
|
0.00093
|
|
NM_020812.4(DOCK6):c.5582G>A (p.Arg1861His)
|
rs115035890
|
0.00093
|
|
NM_022166.4(XYLT1):c.154G>A (p.Gly52Ser)
|
rs766521030
|
0.00093
|
|
NM_022437.3(ABCG8):c.1093A>G (p.Thr365Ala)
|
rs114404835
|
0.00093
|
|
NM_032634.4(PIGO):c.3163T>C (p.Phe1055Leu)
|
rs147316771
|
0.00093
|
|
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser)
|
rs146789444
|
0.00093
|
|
NM_139058.3(ARX):c.802G>T (p.Val268Leu)
|
rs587783141
|
0.00093
|
|
NM_144991.3(TSPEAR):c.169C>T (p.Arg57Trp)
|
rs140542643
|
0.00093
|
|
NM_145239.3(PRRT2):c.640G>C (p.Ala214Pro)
|
rs745594874
|
0.00093
|
|
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro)
|
rs557830930
|
0.00093
|
|
NM_172351.3(CD46):c.1103C>T (p.Thr368Ile)
|
rs146803767
|
0.00093
|
|
NM_181882.3(PRX):c.3496C>T (p.Pro1166Ser)
|
rs147826200
|
0.00093
|
|
NM_194248.3(OTOF):c.1530C>T (p.Ile510=)
|
rs150452778
|
0.00093
|
|
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys)
|
rs139954767
|
0.00093
|
|
NM_198576.4(AGRN):c.2013C>T (p.Ser671=)
|
rs141603403
|
0.00093
|
|
NM_201384.3(PLEC):c.6594C>T (p.Thr2198=)
|
rs144242254
|
0.00093
|
|
NM_201548.5(CERKL):c.735G>C (p.Leu245=)
|
rs140898616
|
0.00093
|
|
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser)
|
rs35224686
|
0.00092
|
|
NM_000093.5(COL5A1):c.4906G>A (p.Ala1636Thr)
|
rs113452150
|
0.00092
|
|
NM_000137.4(FAH):c.1205G>A (p.Arg402His)
|
rs147796599
|
0.00092
|
|
NM_000208.4(INSR):c.190T>C (p.Leu64=)
|
rs144836032
|
0.00092
|
|
NM_000243.3(MEFV):c.911-12G>A
|
rs372016564
|
0.00092
|
|
NM_000311.5(PRNP):c.655G>A (p.Glu219Lys)
|
rs1800014
|
0.00092
|
|
NM_000383.4(AIRE):c.901G>A (p.Val301Met)
|
rs150634562
|
0.00092
|
|
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His)
|
rs142723249
|
0.00092
|
|
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu)
|
rs121909551
|
0.00092
|
|
NM_000512.5(GALNS):c.303C>T (p.Asn101=)
|
rs79146426
|
0.00092
|
|
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=)
|
rs146932786
|
0.00092
|
|
NM_001267550.2(TTN):c.11672C>T (p.Thr3891Ile)
|
rs148164929
|
0.00092
|
|
NM_001277115.2(DNAH11):c.3765C>T (p.Asp1255=)
|
rs190062687
|
0.00092
|
|
NM_001277115.2(DNAH11):c.9773A>G (p.Tyr3258Cys)
|
rs182808328
|
0.00092
|
|
NM_001277115.2(DNAH11):c.9795G>T (p.Glu3265Asp)
|
rs200614172
|
0.00092
|
|
NM_001291303.3(FAT4):c.11619C>T (p.Cys3873=)
|
rs141328606
|
0.00092
|
|
NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=)
|
rs147318592
|
0.00092
|
|
NM_001367624.2(ZNF469):c.5548C>A (p.Pro1850Thr)
|
rs199932922
|
0.00092
|
|
NM_001370466.1(NOD2):c.-8-7T>A
|
rs104895421
|
0.00092
|
|
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser)
|
rs138457939
|
0.00092
|
|
NM_003126.4(SPTA1):c.4591G>C (p.Ala1531Pro)
|
rs143779235
|
0.00092
|
|
NM_003560.4(PLA2G6):c.1615G>A (p.Gly539Ser)
|
rs143826762
|
0.00092
|
|
NM_003673.4(TCAP):c.353C>T (p.Ala118Val)
|
rs143233087
|
0.00092
|
|
NM_003742.4(ABCB11):c.408C>T (p.Ser136=)
|
rs183214630
|
0.00092
|
|
NM_003823.4(TNFRSF6B):c.129_130del (p.Glu45fs)
|
rs540583157
|
0.00092
|
|
NM_004132.5(HABP2):c.1379G>C (p.Gly460Ala)
|
rs113091571
|
0.00092
|
|
NM_004407.4(DMP1):c.263C>T (p.Ala88Val)
|
rs144773084
|
0.00092
|
|
NM_004560.4(ROR2):c.1736A>T (p.Asp579Val)
|
rs150610444
|
0.00092
|
|
NM_006929.5(SKIC2):c.3470C>T (p.Thr1157Met)
|
rs201764098
|
0.00092
|
|
NM_012469.4(PRPF6):c.891C>T (p.Leu297=)
|
rs41278234
|
0.00092
|
|
NM_014049.5(ACAD9):c.453+8A>G
|
rs199919500
|
0.00092
|
|
NM_014251.3(SLC25A13):c.1311+3A>G
|
rs180844972
|
0.00092
|
|
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln)
|
rs150797476
|
0.00092
|
|
NM_014855.3(AP5Z1):c.558C>T (p.Tyr186=)
|
rs371534878
|
0.00092
|
|
NM_015425.6(POLR1A):c.4273-5G>A
|
rs370722814
|
0.00092
|
|
NM_015836.4(WARS2):c.754C>T (p.Arg252Cys)
|
rs149657255
|
0.00092
|
|
NM_016111.4(TELO2):c.32C>A (p.Ala11Asp)
|
rs144863771
|
0.00092
|
|
NM_022081.6(HPS4):c.1543T>C (p.Cys515Arg)
|
rs148134252
|
0.00092
|
|
NM_022124.6(CDH23):c.4488+7C>T
|
rs374215303
|
0.00092
|
|
NM_022356.4(P3H1):c.1529A>G (p.Asn510Ser)
|
rs149894086
|
0.00092
|
|
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu)
|
rs41303899
|
0.00092
|
|
NM_053025.4(MYLK):c.3706A>G (p.Met1236Val)
|
rs113124819
|
0.00092
|
|
NM_057176.3(BSND):c.527G>A (p.Arg176His)
|
rs143711308
|
0.00092
|
|
NM_133642.5(LARGE1):c.1071T>C (p.Asn357=)
|
rs146552975
|
0.00092
|
|
NM_144508.5(KNL1):c.2949A>G (p.Leu983=)
|
rs201182330
|
0.00092
|
|
NM_173076.3(ABCA12):c.3481A>T (p.Met1161Leu)
|
rs141077206
|
0.00092
|
|
NM_000083.3(CLCN1):c.2834G>T (p.Gly945Val)
|
rs139659129
|
0.00091
|
|
NM_000136.3(FANCC):c.178G>A (p.Val60Ile)
|
rs138629441
|
0.00091
|
|
NM_000138.5(FBN1):c.783T>C (p.Asn261=)
|
rs113721547
|
0.00091
|
|
NM_000182.5(HADHA):c.589G>T (p.Ala197Ser)
|
rs116320983
|
0.00091
|
|
NM_000218.3(KCNQ1):c.*1025G>C
|
rs181226788
|
0.00091
|
|
NM_000277.3(PAH):c.158G>A (p.Arg53His)
|
rs118092776
|
0.00091
|
|
NM_000310.4(PPT1):c.904A>G (p.Ile302Val)
|
rs146902902
|
0.00091
|
|
NM_000426.4(LAMA2):c.1782+10C>T
|
rs200030296
|
0.00091
|
|
NM_000426.4(LAMA2):c.9211+6T>C
|
rs201375881
|
0.00091
|
|
NM_000493.4(COL10A1):c.43T>G (p.Leu15Val)
|
rs147612968
|
0.00091
|
|
NM_000553.6(WRN):c.107G>A (p.Arg36Gln)
|
rs34084741
|
0.00091
|
|
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe)
|
rs200092211
|
0.00091
|
|
NM_001080.3(ALDH5A1):c.354+14G>A
|
rs572861590
|
0.00091
|
|
NM_001097577.3(ANG):c.122A>T (p.Lys41Ile)
|
rs121909536
|
0.00091
|
|
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg)
|
rs121908242
|
0.00091
|
|
NM_001142864.4(PIEZO1):c.94C>A (p.Leu32Met)
|
rs370663645
|
0.00091
|
|
NM_001143992.2(WRAP53):c.1075C>T (p.Pro359Ser)
|
rs149359927
|
0.00091
|
|
NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys)
|
rs149763294
|
0.00091
|
|
NM_001291303.3(FAT4):c.7231A>T (p.Thr2411Ser)
|
rs147297895
|
0.00091
|
|
NM_001384474.1(LOXHD1):c.5546A>C (p.Asp1849Ala)
|
rs376636291
|
0.00091
|
|
NM_001388492.1(HTT):c.3344C>G (p.Ala1115Gly)
|
rs1065747
|
0.00091
|
|
NM_001457.4(FLNB):c.2453G>A (p.Arg818Gln)
|
rs151259375
|
0.00091
|
|
NM_001849.4(COL6A2):c.288C>T (p.Tyr96=)
|
rs61735833
|
0.00091
|
|
NM_002591.4(PCK1):c.7C>T (p.Pro3Ser)
|
rs147120329
|
0.00091
|
|
NM_002972.4(SBF1):c.3922C>T (p.Arg1308Trp)
|
rs201399007
|
0.00091
|
|
NM_003126.4(SPTA1):c.4694T>A (p.Leu1565Gln)
|
rs202217097
|
0.00091
|
|
NM_003265.3(TLR3):c.441+3A>G
|
rs143625567
|
0.00091
|
|
NM_004304.5(ALK):c.4796C>A (p.Pro1599His)
|
rs1881423
|
0.00091
|
|
NM_004393.6(DAG1):c.2082C>T (p.Asn694=)
|
rs146453412
|
0.00091
|
|
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)
|
rs142885240
|
0.00091
|
|
NM_004525.3(LRP2):c.4831C>T (p.Leu1611=)
|
rs151079411
|
0.00091
|
|
NM_004646.4(NPHS1):c.1151T>C (p.Met384Thr)
|
rs114112112
|
0.00091
|
|
NM_005045.4(RELN):c.1001G>A (p.Arg334His)
|
rs146922726
|
0.00091
|
|
NM_005045.4(RELN):c.577+7G>T
|
rs188372756
|
0.00091
|
|
NM_005257.6(GATA6):c.1375G>A (p.Ala459Thr)
|
rs151176879
|
0.00091
|
|
NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr)
|
rs201404751
|
0.00091
|
|
NM_006892.4(DNMT3B):c.886G>A (p.Val296Ile)
|
rs145632647
|
0.00091
|
|
NM_007325.5(GRIA3):c.1166A>C (p.Lys389Thr)
|
rs146022384
|
0.00091
|
|
NM_007325.5(GRIA3):c.159T>C (p.Phe53=)
|
rs145583732
|
0.00091
|
|
NM_012140.5(SLC25A10):c.657C>T (p.Pro219=)
|
rs114621664
|
0.00091
|
|
NM_015135.3(NUP205):c.4883A>G (p.Gln1628Arg)
|
rs147336077
|
0.00091
|
|
NM_017909.4(RMND1):c.1085G>A (p.Arg362His)
|
rs142588921
|
0.00091
|
|
NM_020937.4(FANCM):c.926A>C (p.Glu309Ala)
|
rs143006771
|
0.00091
|
|
NM_021076.4(NEFH):c.2368_2370del (p.Lys790del)
|
rs59551486
|
0.00091
|
|
NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe)
|
rs55708915
|
0.00091
|
|
NM_022089.4(ATP13A2):c.951C>T (p.Cys317=)
|
rs148391179
|
0.00091
|
|
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly)
|
rs188098974
|
0.00091
|
|
NM_025074.7(FRAS1):c.2956G>A (p.Ala986Thr)
|
rs111554790
|
0.00091
|
|
NM_032833.5(PPP1R15B):c.1407A>T (p.Glu469Asp)
|
rs141538150
|
0.00091
|
|
NM_133259.4(LRPPRC):c.1295A>G (p.Glu432Gly)
|
rs144732922
|
0.00091
|
|
NM_138348.6(OTULIN):c.119A>G (p.Gln40Arg)
|
rs750815369
|
0.00091
|
|
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=)
|
rs61754107
|
0.00091
|
|
NM_170707.4(LMNA):c.640-52C>T
|
rs41314033
|
0.00091
|
|
NM_177550.5(SLC13A5):c.231+6C>A
|
rs138834680
|
0.00091
|
|
NM_182914.3(SYNE2):c.16718G>A (p.Arg5573Gln)
|
rs149227847
|
0.00091
|
|
NM_182914.3(SYNE2):c.20161G>A (p.Ala6721Thr)
|
rs140897155
|
0.00091
|
|
NM_182961.4(SYNE1):c.6826-6A>G
|
rs183683592
|
0.00091
|
|
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=)
|
rs111033366
|
0.00091
|
|
NM_201384.3(PLEC):c.10656G>A (p.Val3552=)
|
rs368312695
|
0.00091
|
|
NM_000026.4(ADSL):c.895A>G (p.Met299Val)
|
rs34396910
|
0.00090
|
|
NM_000260.4(MYO7A):c.1554+7C>T
|
rs150114658
|
0.00090
|
|
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys)
|
rs1800548
|
0.00090
|
|
NM_000426.4(LAMA2):c.5021G>A (p.Arg1674Lys)
|
rs143333246
|
0.00090
|
|
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)
|
rs74571530
|
0.00090
|
|
NM_001001557.4(GDF6):c.866T>C (p.Leu289Pro)
|
rs63751220
|
0.00090
|
|
NM_001267550.2(TTN):c.96098G>A (p.Arg32033His)
|
rs200648462
|
0.00090
|
|
NM_001374385.1(ATP8B1):c.1711G>A (p.Ala571Thr)
|
rs35140429
|
0.00090
|
|
NM_001377.3(DYNC2H1):c.9505A>G (p.Ile3169Val)
|
rs200170585
|
0.00090
|
|
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg)
|
rs141911199
|
0.00090
|
|
NM_001384732.1(CPLANE1):c.9454G>A (p.Gly3152Arg)
|
rs144081297
|
0.00090
|
|
NM_001458.5(FLNC):c.5418G>A (p.Ser1806=)
|
rs376078394
|
0.00090
|
|
NM_001844.5(COL2A1):c.2831C>T (p.Pro944Leu)
|
rs140368756
|
0.00090
|
|
NM_002778.4(PSAP):c.174+9C>T
|
rs141133813
|
0.00090
|
|
NM_003322.6(TULP1):c.366G>T (p.Glu122Asp)
|
rs113772629
|
0.00090
|
|
NM_003327.4(TNFRSF4):c.494T>C (p.Ile165Thr)
|
rs150407012
|
0.00090
|
|
NM_003630.3(PEX3):c.165A>G (p.Gln55=)
|
rs41285015
|
0.00090
|
|
NM_005589.4(ALDH6A1):c.194A>G (p.Asn65Ser)
|
rs111975186
|
0.00090
|
|
NM_006005.3(WFS1):c.683G>A (p.Arg228His)
|
rs150771247
|
0.00090
|
|
NM_017802.4(DNAAF5):c.385G>C (p.Val129Leu)
|
rs1031852692
|
0.00090
|
|
NM_021008.4(DEAF1):c.1186G>A (p.Gly396Ser)
|
rs138447102
|
0.00090
|
|
NM_080911.3(UNG):c.262C>T (p.Arg88Cys)
|
rs151095402
|
0.00090
|
|
NM_147127.5(EVC2):c.2244C>T (p.Thr748=)
|
rs146588335
|
0.00090
|
|
NM_212550.5(BLOC1S3):c.415G>T (p.Val139Leu)
|
rs749030472
|
0.00090
|
|
NM_213622.4(STAMBP):c.764G>A (p.Arg255His)
|
rs146601260
|
0.00090
|
|
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln)
|
rs143214563
|
0.00089
|
|
NM_000094.4(COL7A1):c.8530C>T (p.Arg2844Trp)
|
rs138002006
|
0.00089
|
|
NM_000290.4(PGAM2):c.459C>T (p.Cys153=)
|
rs143809043
|
0.00089
|
|
NM_000336.3(SCNN1B):c.1888G>A (p.Val630Ile)
|
rs72654357
|
0.00089
|
|
NM_000428.3(LTBP2):c.4072G>T (p.Ala1358Ser)
|
rs139138043
|
0.00089
|
|
NM_000434.4(NEU1):c.432C>T (p.Ser144=)
|
rs114405905
|
0.00089
|
|
NM_000550.3(TYRP1):c.1029C>T (p.Asp343=)
|
rs145061390
|
0.00089
|
|
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser)
|
rs142063328
|
0.00089
|
|
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=)
|
rs138186428
|
0.00089
|
|
NM_001160372.4(TRAPPC9):c.159C>T (p.Leu53=)
|
rs112997540
|
0.00089
|
|
NM_001160372.4(TRAPPC9):c.3414T>G (p.Ser1138Arg)
|
rs147127279
|
0.00089
|
|
NM_001174150.2(ARL13B):c.831C>A (p.Asn277Lys)
|
rs139997243
|
0.00089
|
|
NM_001235.5(SERPINH1):c.92G>C (p.Gly31Ala)
|
rs140588417
|
0.00089
|
|
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu)
|
rs151310601
|
0.00089
|
|
NM_001277115.2(DNAH11):c.2783A>T (p.Asp928Val)
|
rs201386161
|
0.00089
|
|
NM_001277115.2(DNAH11):c.7811+4A>T
|
rs374167556
|
0.00089
|
|
NM_001365951.3(KIF1B):c.2115+6581G>A
|
rs41274460
|
0.00089
|
|
NM_001378615.1(CC2D2A):c.1162G>A (p.Val388Ile)
|
rs115924432
|
0.00089
|
|
NM_001395413.1(POR):c.678C>T (p.Ala226=)
|
rs72557906
|
0.00089
|
|
NM_002439.5(MSH3):c.2005C>T (p.Arg669Trp)
|
rs35045151
|
0.00089
|
|
NM_003119.4(SPG7):c.1083G>A (p.Ala361=)
|
rs114135540
|
0.00089
|
|
NM_003737.4(DCHS1):c.7448C>T (p.Thr2483Ile)
|
rs146434035
|
0.00089
|
|
NM_003748.4(ALDH4A1):c.1261T>C (p.Cys421Arg)
|
rs149414160
|
0.00089
|
|
NM_004525.3(LRP2):c.6858T>A (p.Phe2286Leu)
|
rs140918583
|
0.00089
|
|
NM_004525.3(LRP2):c.9311G>A (p.Ser3104Asn)
|
rs139523655
|
0.00089
|
|
NM_005142.3(CBLIF):c.910C>T (p.Pro304Ser)
|
rs150926439
|
0.00089
|
|
NM_005546.4(ITK):c.1510A>T (p.Thr504Ser)
|
rs151046132
|
0.00089
|
|
NM_005559.4(LAMA1):c.2808+5G>A
|
rs201030108
|
0.00089
|
|
NM_005751.5(AKAP9):c.10664A>T (p.Asp3555Val)
|
rs139046510
|
0.00089
|
|
NM_006891.4(CRYGD):c.181G>T (p.Gly61Cys)
|
rs150857132
|
0.00089
|
|
NM_006907.4(PYCR1):c.465C>T (p.Ser155=)
|
rs149683289
|
0.00089
|
|
NM_006946.4(SPTBN2):c.6797C>T (p.Ala2266Val)
|
rs145891813
|
0.00089
|
|
NM_014874.4(MFN2):c.1641C>T (p.Leu547=)
|
rs140924661
|
0.00089
|
|
NM_016239.4(MYO15A):c.9181G>A (p.Glu3061Lys)
|
rs116833707
|
0.00089
|
|
NM_018060.4(IARS2):c.2122G>A (p.Glu708Lys)
|
rs143722284
|
0.00089
|
|
NM_018249.6(CDK5RAP2):c.1218G>A (p.Gln406=)
|
rs61758368
|
0.00089
|
|
NM_021942.6(TRAPPC11):c.2388A>C (p.Gly796=)
|
rs151021715
|
0.00089
|
|
NM_025216.3(WNT10A):c.208C>T (p.Arg70Trp)
|
rs146460077
|
0.00089
|
|
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=)
|
rs149260051
|
0.00089
|
|
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=)
|
rs148240825
|
0.00089
|
|
NM_194248.3(OTOF):c.3385G>A (p.Val1129Met)
|
rs138249243
|
0.00089
|
|
NM_201384.3(PLEC):c.3434C>T (p.Thr1145Met)
|
rs200672373
|
0.00089
|
|
NM_201384.3(PLEC):c.3731T>G (p.Val1244Gly)
|
rs187648086
|
0.00089
|
|
NM_000033.4(ABCD1):c.895C>T (p.His299Tyr)
|
rs202195978
|
0.00088
|
|
NM_000038.6(APC):c.6821C>T (p.Ala2274Val)
|
rs34919187
|
0.00088
|
|
NM_000059.4(BRCA2):c.5768A>C (p.Asp1923Ala)
|
rs45491005
|
0.00088
|
|
NM_000085.5(CLCNKB):c.700T>C (p.Trp234Arg)
|
rs144517772
|
0.00088
|
|
NM_000208.4(INSR):c.2793G>A (p.Ala931=)
|
rs111502197
|
0.00088
|
|
NM_000236.3(LIPC):c.815C>T (p.Thr272Ile)
|
rs148453176
|
0.00088
|
|
NM_000250.2(MPO):c.1379G>A (p.Arg460Gln)
|
rs149133270
|
0.00088
|
|
NM_000260.4(MYO7A):c.39C>A (p.Asp13Glu)
|
rs199989979
|
0.00088
|
|
NM_000276.4(OCRL):c.40-5C>T
|
rs201211377
|
0.00088
|
|
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly)
|
rs148064565
|
0.00088
|
|
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser)
|
rs200164758
|
0.00088
|
|
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro)
|
rs116349687
|
0.00088
|
|
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=)
|
rs372702466
|
0.00088
|
|
NM_000748.3(CHRNB2):c.1485C>T (p.Asp495=)
|
rs144813907
|
0.00088
|
|
NM_000883.4(IMPDH1):c.1598A>G (p.Gln533Arg)
|
rs144498273
|
0.00088
|
|
NM_001042545.2(LTBP4):c.814G>T (p.Ala272Ser)
|
rs199990200
|
0.00088
|
|
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=)
|
rs140553130
|
0.00088
|
|
NM_001079.4(ZAP70):c.1289+10G>A
|
rs200538234
|
0.00088
|
|
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile)
|
rs140469160
|
0.00088
|
|
NM_001164508.2(NEB):c.10434T>C (p.Asn3478=)
|
rs375543045
|
0.00088
|
|
NM_001267550.2(TTN):c.31807G>A (p.Val10603Ile)
|
rs139790668
|
0.00088
|
|
NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu)
|
rs146400809
|
0.00088
|
|
NM_001267550.2(TTN):c.83299C>A (p.Pro27767Thr)
|
rs184643087
|
0.00088
|
|
NM_001277115.2(DNAH11):c.5761G>A (p.Glu1921Lys)
|
rs199613080
|
0.00088
|
|
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser)
|
rs150516929
|
0.00088
|
|
NM_001329943.3(KIAA0586):c.3663T>G (p.Ser1221=)
|
rs201202020
|
0.00088
|
|
NM_001365276.2(TNXB):c.5488A>C (p.Ser1830Arg)
|
rs200519530
|
0.00088
|
|
NM_001369268.1(ACAN):c.7189G>A (p.Val2397Ile)
|
rs150555123
|
0.00088
|
|
NM_001374353.1(GLI2):c.2939C>G (p.Pro980Arg)
|
rs563818052
|
0.00088
|
|
NM_001374353.1(GLI2):c.607G>A (p.Ala203Thr)
|
rs147044066
|
0.00088
|
|
NM_001378609.3(OTOGL):c.2357T>C (p.Phe786Ser)
|
rs192944055
|
0.00088
|
|
NM_001379180.1(ESRRB):c.*1546C>T
|
rs201448899
|
0.00088
|
|
NM_001394062.1(MACF1):c.4045C>A (p.Leu1349Met)
|
rs141025026
|
0.00088
|
|
NM_001853.4(COL9A3):c.110C>T (p.Pro37Leu)
|
rs373605761
|
0.00088
|
|
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg)
|
rs141978499
|
0.00088
|
|
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu)
|
rs183130583
|
0.00088
|
|
NM_002234.4(KCNA5):c.634C>T (p.Arg212Cys)
|
rs77281462
|
0.00088
|
|
NM_002907.4(RECQL):c.1859C>G (p.Ser620Ter)
|
rs142038240
|
0.00088
|
|
NM_002972.4(SBF1):c.898-4G>A
|
rs377428323
|
0.00088
|
|
NM_003664.5(AP3B1):c.1198G>C (p.Ala400Pro)
|
rs150000996
|
0.00088
|
|
NM_003839.4(TNFRSF11A):c.1254T>G (p.Ser418=)
|
rs34966542
|
0.00088
|
|
NM_004530.6(MMP2):c.1233G>A (p.Leu411=)
|
rs140172728
|
0.00088
|
|
NM_005413.4(SIX3):c.369G>A (p.Glu123=)
|
rs200331042
|
0.00088
|
|
NM_005529.7(HSPG2):c.12580G>A (p.Gly4194Arg)
|
rs144496753
|
0.00088
|
|
NM_005802.5(TOPORS):c.2547A>G (p.Ser849=)
|
rs150650712
|
0.00088
|
|
NM_006019.4(TCIRG1):c.197-5C>T
|
rs183885218
|
0.00088
|
|
NM_006031.6(PCNT):c.2033A>G (p.Lys678Arg)
|
rs149623054
|
0.00088
|
|
NM_006785.4(MALT1):c.649+9C>T
|
rs200919386
|
0.00088
|
|
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=)
|
rs150508296
|
0.00088
|
|
NM_014339.7(IL17RA):c.465G>C (p.Gln155His)
|
rs142199303
|
0.00088
|
|
NM_015158.5(KANK1):c.3371G>A (p.Arg1124His)
|
rs114055800
|
0.00088
|
|
NM_018082.6(POLR3B):c.2796C>T (p.His932=)
|
rs141030994
|
0.00088
|
|
NM_018341.3(ERMARD):c.1976G>T (p.Ser659Ile)
|
rs117593791
|
0.00088
|
|
NM_020458.4(TTC7A):c.2484G>C (p.Gln828His)
|
rs151032299
|
0.00088
|
|
NM_020822.3(KCNT1):c.2034C>T (p.Gly678=)
|
rs369983077
|
0.00088
|
|
NM_022455.5(NSD1):c.3150C>T (p.Thr1050=)
|
rs144257298
|
0.00088
|
|
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu)
|
rs200967041
|
0.00088
|
|
NM_025074.7(FRAS1):c.4095C>T (p.Ile1365=)
|
rs79869130
|
0.00088
|
|
NM_031471.6(FERMT3):c.1188G>A (p.Gln396=)
|
rs148021416
|
0.00088
|
|
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val)
|
rs41308297
|
0.00088
|
|
NM_033337.3(CAV3):c.40G>A (p.Val14Ile)
|
rs121909281
|
0.00088
|
|
NM_053025.4(MYLK):c.3832-6C>T
|
rs185681684
|
0.00088
|
|
NM_080473.5(GATA5):c.477C>G (p.Phe159Leu)
|
rs112433432
|
0.00088
|
|
NM_138694.4(PKHD1):c.3834C>T (p.Phe1278=)
|
rs145960781
|
0.00088
|
|
NM_152743.4(BRAT1):c.1792C>T (p.His598Tyr)
|
rs201523118
|
0.00088
|
|
NM_000023.4(SGCA):c.329G>A (p.Arg110Gln)
|
rs145697858
|
0.00087
|
|
NM_000151.4(G6PC1):c.562+10G>A
|
rs199505156
|
0.00087
|
|
NM_000208.4(INSR):c.959C>T (p.Thr320Met)
|
rs138528064
|
0.00087
|
|
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn)
|
rs41294980
|
0.00087
|
|
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr)
|
rs147293270
|
0.00087
|
|
NM_000282.4(PCCA):c.2040+11dup
|
rs779884567
|
0.00087
|
|
NM_000426.4(LAMA2):c.6708-3A>C
|
rs112637707
|
0.00087
|
|
NM_000520.6(HEXA):c.1527-6T>C
|
rs199914308
|
0.00087
|
|
NM_001012759.3(CTU2):c.611C>T (p.Pro204Leu)
|
rs141967170
|
0.00087
|
|
NM_001083614.2(EARS2):c.670G>A (p.Gly224Ser)
|
rs141129877
|
0.00087
|
|
NM_001128225.3(SLC39A13):c.646-7T>C
|
rs140597965
|
0.00087
|
|
NM_001166114.2(PNPLA6):c.3912C>T (p.Asp1304=)
|
rs149871062
|
0.00087
|
|
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser)
|
rs141213991
|
0.00087
|
|
NM_001291303.3(FAT4):c.3682C>G (p.Gln1228Glu)
|
rs200227715
|
0.00087
|
|
NM_001292063.2(OTOG):c.4835G>A (p.Arg1612His)
|
rs189248390
|
0.00087
|
|
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=)
|
rs138209330
|
0.00087
|
|
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile)
|
rs149291867
|
0.00087
|
|
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile)
|
rs199768740
|
0.00087
|
|
NM_001379081.2(FREM1):c.5622G>C (p.Trp1874Cys)
|
rs61745612
|
0.00087
|
|
NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=)
|
rs145520487
|
0.00087
|
|
NM_001735.3(C5):c.989T>C (p.Ile330Thr)
|
rs147430470
|
0.00087
|
|
NM_001849.4(COL6A2):c.568G>A (p.Val190Met)
|
rs150877061
|
0.00087
|
|
NM_001887.4(CRYBB1):c.156G>A (p.Ala52=)
|
rs149902597
|
0.00087
|
|
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val)
|
rs147399860
|
0.00087
|
|
NM_012463.4(ATP6V0A2):c.773A>G (p.Glu258Gly)
|
rs141467923
|
0.00087
|
|
NM_014363.6(SACS):c.12813T>G (p.Pro4271=)
|
rs146376949
|
0.00087
|
|
NM_014425.5(INVS):c.1945G>A (p.Val649Met)
|
rs115042730
|
0.00087
|
|
NM_014588.6(VSX1):c.173C>T (p.Pro58Leu)
|
rs369865672
|
0.00087
|
|
NM_015102.5(NPHP4):c.2940G>A (p.Thr980=)
|
rs146948888
|
0.00087
|
|
NM_016219.5(MAN1B1):c.304A>C (p.Ile102Leu)
|
rs149322865
|
0.00087
|
|
NM_016239.4(MYO15A):c.2418C>T (p.Phe806=)
|
rs564053026
|
0.00087
|
|
NM_016239.4(MYO15A):c.5060C>T (p.Pro1687Leu)
|
rs58625281
|
0.00087
|
|
NM_020745.4(AARS2):c.1621G>A (p.Glu541Lys)
|
rs142094090
|
0.00087
|
|
NM_020745.4(AARS2):c.1649G>C (p.Gly550Ala)
|
rs79962181
|
0.00087
|
|
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu)
|
rs149126845
|
0.00087
|
|
NM_138694.4(PKHD1):c.2255C>T (p.Thr752Met)
|
rs200654041
|
0.00087
|
|
NM_152722.5(HEPACAM):c.1072G>A (p.Ala358Thr)
|
rs536963649
|
0.00087
|
|
NM_178138.6(LHX3):c.79+1902C>T
|
rs375579333
|
0.00087
|
|
NM_178857.6(RP1L1):c.652G>T (p.Val218Leu)
|
rs77679870
|
0.00087
|
|
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys)
|
rs35885472
|
0.00086
|
|
NM_000053.4(ATP7B):c.2174G>A (p.Arg725Lys)
|
rs115227204
|
0.00086
|
|
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile)
|
rs149754073
|
0.00086
|
|
NM_000081.4(LYST):c.8027G>T (p.Ser2676Ile)
|
rs113209379
|
0.00086
|
|
NM_000133.4(F9):c.19A>T (p.Ile7Phe)
|
rs150190385
|
0.00086
|
|
NM_000183.3(HADHB):c.1206C>T (p.Tyr402=)
|
rs146538551
|
0.00086
|
|
NM_000213.5(ITGB4):c.2638G>A (p.Asp880Asn)
|
rs139092703
|
0.00086
|
|
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser)
|
rs193922380
|
0.00086
|
|
NM_000316.3(PTH1R):c.1710C>T (p.Gly570=)
|
rs112382430
|
0.00086
|
|
NM_000343.4(SLC5A1):c.35C>T (p.Ala12Val)
|
rs150288967
|
0.00086
|
|
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln)
|
rs115230894
|
0.00086
|
|
NM_000426.4(LAMA2):c.6697G>A (p.Val2233Ile)
|
rs150945378
|
0.00086
|
|
NM_000426.4(LAMA2):c.922G>A (p.Glu308Lys)
|
rs146462599
|
0.00086
|
|
NM_000492.4(CFTR):c.4243-20A>G
|
rs138025486
|
0.00086
|
|
NM_000875.5(IGF1R):c.1956T>G (p.Pro652=)
|
rs45598332
|
0.00086
|
|
NM_001003722.2(GLE1):c.823G>A (p.Asp275Asn)
|
rs146800850
|
0.00086
|
|
NM_001042413.2(GLIS3):c.1044C>T (p.Tyr348=)
|
rs146238548
|
0.00086
|
|
NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile)
|
rs146731467
|
0.00086
|
|
NM_001136472.2(LITAF):c.146C>T (p.Thr49Met)
|
rs141862602
|
0.00086
|
|
NM_001253697.2(ERBIN):c.1862T>C (p.Ile621Thr)
|
rs146472115
|
0.00086
|
|
NM_001256789.3(CACNA1F):c.2764G>A (p.Gly922Ser)
|
rs149685267
|
0.00086
|
|
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met)
|
rs201437752
|
0.00086
|
|
NM_001267550.2(TTN):c.2775+4G>A
|
rs548681281
|
0.00086
|
|
NM_001288705.3(CSF1R):c.764A>T (p.Asn255Ile)
|
rs146406037
|
0.00086
|
|
NM_001358921.2(COQ2):c.44C>G (p.Ala15Gly)
|
rs555411841
|
0.00086
|
|
NM_001369.3(DNAH5):c.8731A>G (p.Asn2911Asp)
|
rs142852982
|
0.00086
|
|
NM_001370658.1(BTD):c.1041C>T (p.Gly347=)
|
rs142421934
|
0.00086
|
|
NM_001378778.1(MPDZ):c.4421A>T (p.Asp1474Val)
|
rs201277979
|
0.00086
|
|
NM_001458.5(FLNC):c.1600G>A (p.Glu534Lys)
|
rs201905890
|
0.00086
|
|
NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser)
|
rs151234321
|
0.00086
|
|
NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys)
|
rs148104494
|
0.00086
|
|
NM_003073.5(SMARCB1):c.500+24C>G
|
rs199737164
|
0.00086
|
|
NM_003283.6(TNNT1):c.750+15C>T
|
rs138664823
|
0.00086
|
|
NM_003922.4(HERC1):c.1259C>T (p.Thr420Met)
|
rs201387092
|
0.00086
|
|
NM_004183.4(BEST1):c.1571T>C (p.Met524Thr)
|
rs145209035
|
0.00086
|
|
NM_004560.4(ROR2):c.2461G>A (p.Val821Ile)
|
rs149056068
|
0.00086
|
|
NM_004836.7(EIF2AK3):c.3153C>T (p.Tyr1051=)
|
rs56120877
|
0.00086
|
|
NM_005529.7(HSPG2):c.2335C>T (p.His779Tyr)
|
rs149094407
|
0.00086
|
|
NM_005529.7(HSPG2):c.8381G>A (p.Arg2794Gln)
|
rs141563188
|
0.00086
|
|
NM_005726.6(TSFM):c.69T>A (p.Leu23=)
|
rs147317818
|
0.00086
|
|
NM_006031.6(PCNT):c.7803G>A (p.Ala2601=)
|
rs144869229
|
0.00086
|
|
NM_006206.6(PDGFRA):c.599C>G (p.Thr200Ser)
|
rs149951350
|
0.00086
|
|
NM_006208.3(ENPP1):c.2624C>T (p.Ser875Phe)
|
rs140729669
|
0.00086
|
|
NM_006348.5(COG5):c.1756C>T (p.His586Tyr)
|
rs151129529
|
0.00086
|
|
NM_006514.4(SCN10A):c.3859G>A (p.Val1287Ile)
|
rs145032037
|
0.00086
|
|
NM_012210.4(TRIM32):c.6T>G (p.Ala2=)
|
rs141352486
|
0.00086
|
|
NM_014141.6(CNTNAP2):c.2369G>A (p.Arg790His)
|
rs73464271
|
0.00086
|
|
NM_014244.5(ADAMTS2):c.2267T>C (p.Val756Ala)
|
rs141650732
|
0.00086
|
|
NM_014714.4(IFT140):c.4297C>T (p.Arg1433Cys)
|
rs141392067
|
0.00086
|
|
NM_015158.5(KANK1):c.1961C>A (p.Ala654Asp)
|
rs148744436
|
0.00086
|
|
NM_016953.4(PDE11A):c.2653G>A (p.Val885Met)
|
rs138134819
|
0.00086
|
|
NM_017636.4(TRPM4):c.1376G>A (p.Arg459His)
|
rs142312281
|
0.00086
|
|
NM_017777.4(MKS1):c.27C>T (p.Asp9=)
|
rs369488349
|
0.00086
|
|
NM_018013.4(SOBP):c.1810C>A (p.Gln604Lys)
|
rs368271940
|
0.00086
|
|
NM_018979.4(WNK1):c.1855A>G (p.Thr619Ala)
|
rs149388376
|
0.00086
|
|
NM_019098.5(CNGB3):c.1534A>G (p.Ile512Val)
|
rs146062161
|
0.00086
|
|
NM_020442.6(VARS2):c.2589G>C (p.Glu863Asp)
|
rs143473050
|
0.00086
|
|
NM_020549.5(CHAT):c.665G>C (p.Arg222Pro)
|
rs8178989
|
0.00086
|
|
NM_020937.4(FANCM):c.1237T>C (p.Tyr413His)
|
rs138225703
|
0.00086
|
|
NM_021101.5(CLDN1):c.195A>G (p.Lys65=)
|
rs145197251
|
0.00086
|
|
NM_022041.4(GAN):c.355A>T (p.Thr119Ser)
|
rs141396595
|
0.00086
|
|
NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu)
|
rs104894680
|
0.00086
|
|
NM_024577.4(SH3TC2):c.689T>C (p.Val230Ala)
|
rs148634904
|
0.00086
|
|
NM_024596.5(MCPH1):c.2180C>T (p.Pro727Leu)
|
rs199861426
|
0.00086
|
|
NM_025137.4(SPG11):c.7161A>T (p.Gln2387His)
|
rs201918221
|
0.00086
|
|
NM_030928.4(CDT1):c.758G>A (p.Arg253His)
|
rs148337159
|
0.00086
|
|
NM_031885.5(BBS2):c.1380C>T (p.Phe460=)
|
rs141046144
|
0.00086
|
|
NM_032119.4(ADGRV1):c.16285G>A (p.Glu5429Lys)
|
rs183851734
|
0.00086
|
|
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys)
|
rs188772875
|
0.00086
|
|
NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=)
|
rs371831553
|
0.00086
|
|
NM_138773.4(SLC25A46):c.235G>A (p.Glu79Lys)
|
rs200566665
|
0.00086
|
|
NM_152384.3(BBS5):c.751A>G (p.Asn251Asp)
|
rs143113298
|
0.00086
|
|
NM_152416.4(NDUFAF6):c.738T>C (p.Phe246=)
|
rs202047755
|
0.00086
|
|
NM_174936.4(PCSK9):c.1171C>A (p.His391Asn)
|
rs146471967
|
0.00086
|
|
NM_182961.4(SYNE1):c.9530A>G (p.Asp3177Gly)
|
rs149005052
|
0.00086
|
|
NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn)
|
rs143427811
|
0.00086
|
|
NM_201384.3(PLEC):c.2775C>T (p.Ala925=)
|
rs201202488
|
0.00086
|
|
NM_000098.3(CPT2):c.353A>G (p.Asp118Gly)
|
rs148035648
|
0.00085
|
|
NM_000193.4(SHH):c.1181G>A (p.Arg394His)
|
rs551809680
|
0.00085
|
|
NM_000208.4(INSR):c.2970G>A (p.Pro990=)
|
rs41304772
|
0.00085
|
|
NM_000439.5(PCSK1):c.1387G>A (p.Glu463Lys)
|
rs143174906
|
0.00085
|
|
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe)
|
rs147707463
|
0.00085
|
|
NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=)
|
rs143782439
|
0.00085
|
|
NM_001048166.1(STIL):c.2906A>G (p.His969Arg)
|
rs148193936
|
0.00085
|
|
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly)
|
rs72544141
|
0.00085
|
|
NM_001369.3(DNAH5):c.6752C>T (p.Thr2251Met)
|
rs146392250
|
0.00085
|
|
NM_001377265.1(MAPT):c.1891G>A (p.Ala631Thr)
|
rs63750096
|
0.00085
|
|
NM_001379081.2(FREM1):c.3146C>G (p.Ser1049Cys)
|
rs199961802
|
0.00085
|
|
NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr)
|
rs140736502
|
0.00085
|
|
NM_001457.4(FLNB):c.2494G>A (p.Ala832Thr)
|
rs114804033
|
0.00085
|
|
NM_001853.4(COL9A3):c.1242C>T (p.Pro414=)
|
rs150153886
|
0.00085
|
|
NM_002223.4(ITPR2):c.3485T>G (p.Val1162Gly)
|
rs61757114
|
0.00085
|
|
NM_003060.4(SLC22A5):c.934A>G (p.Ile312Val)
|
rs77300588
|
0.00085
|
|
NM_003742.4(ABCB11):c.174C>T (p.Asp58=)
|
rs11568362
|
0.00085
|
|
NM_003977.4(AIP):c.301G>A (p.Val101Met)
|
rs147931650
|
0.00085
|
|
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe)
|
rs145393807
|
0.00085
|
|
NM_004826.4(ECEL1):c.1868G>C (p.Gly623Ala)
|
rs138272112
|
0.00085
|
|
NM_004963.4(GUCY2C):c.893C>T (p.Thr298Met)
|
rs148946391
|
0.00085
|
|
NM_014915.3(ANKRD26):c.1451T>C (p.Val484Ala)
|
rs201461870
|
0.00085
|
|
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln)
|
rs142349647
|
0.00085
|
|
NM_016343.4(CENPF):c.4520C>T (p.Ser1507Phe)
|
rs145589304
|
0.00085
|
|
NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala)
|
rs148410446
|
0.00085
|
|
NM_018075.5(ANO10):c.88G>C (p.Glu30Gln)
|
rs147605535
|
0.00085
|
|
NM_020066.5(FMN2):c.2572C>A (p.Pro858Thr)
|
rs140315493
|
0.00085
|
|
NM_020451.3(SELENON):c.1596C>T (p.Gly532=)
|
rs149623434
|
0.00085
|
|
NM_022098.4(XPNPEP3):c.817A>G (p.Ser273Gly)
|
rs138501598
|
0.00085
|
|
NM_024408.4(NOTCH2):c.4897G>A (p.Val1633Ile)
|
rs116321057
|
0.00085
|
|
NM_032119.4(ADGRV1):c.9083A>G (p.Asn3028Ser)
|
rs150549897
|
0.00085
|
|
NM_032444.4(SLX4):c.3774C>T (p.Pro1258=)
|
rs146054214
|
0.00085
|
|
NM_178452.6(DNAAF1):c.1354C>A (p.Pro452Thr)
|
rs145680314
|
0.00085
|
|
NM_182760.4(SUMF1):c.211T>C (p.Ser71Pro)
|
rs201984297
|
0.00085
|
|
NM_198578.4(LRRK2):c.2378G>T (p.Arg793Met)
|
rs35173587
|
0.00085
|
|
NM_206933.4(USH2A):c.8559-7G>A
|
rs199618999
|
0.00085
|
|
NM_000124.4(ERCC6):c.3650T>G (p.Phe1217Cys)
|
rs61760166
|
0.00084
|
|
NM_000178.4(GSS):c.1253G>A (p.Arg418Gln)
|
rs150141794
|
0.00084
|
|
NM_000211.5(ITGB2):c.2050C>T (p.Arg684Cys)
|
rs147238010
|
0.00084
|
|
NM_000293.3(PHKB):c.2075A>G (p.Lys692Arg)
|
rs142381554
|
0.00084
|
|
NM_000295.5(SERPINA1):c.976G>A (p.Val326Ile)
|
rs139964603
|
0.00084
|
|
NM_000326.5(RLBP1):c.545T>G (p.Phe182Cys)
|
rs142244640
|
0.00084
|
|
NM_000540.3(RYR1):c.4088C>T (p.Ala1363Val)
|
rs774603798
|
0.00084
|
|
NM_000548.5(TSC2):c.1860G>A (p.Leu620=)
|
rs45492397
|
0.00084
|
|
NM_000732.6(CD3D):c.52C>A (p.Gln18Lys)
|
rs141902449
|
0.00084
|
|
NM_001031679.3(MSRB3):c.76+7G>T
|
rs199896714
|
0.00084
|
|
NM_001079802.2(FKTN):c.681G>A (p.Leu227=)
|
rs142604625
|
0.00084
|
|
NM_001080414.4(CCDC88C):c.1527+8G>A
|
rs151228192
|
0.00084
|
|
NM_001083961.2(WDR62):c.2381C>G (p.Pro794Arg)
|
rs149431376
|
0.00084
|
|
NM_001134665.3(TRMT10A):c.955C>A (p.Pro319Thr)
|
rs143207059
|
0.00084
|
|
NM_001148.6(ANK2):c.11538C>T (p.Leu3846=)
|
rs45602336
|
0.00084
|
|
NM_001193315.2(VIPAS39):c.1460C>T (p.Ser487Leu)
|
rs140365206
|
0.00084
|
|
NM_001200.4(BMP2):c.561C>T (p.Pro187=)
|
rs149465465
|
0.00084
|
|
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val)
|
rs56173891
|
0.00084
|
|
NM_001350162.2(TEX15):c.9474G>A (p.Trp3158Ter)
|
rs146619272
|
0.00084
|
|
NM_001367721.1(CASK):c.1077G>A (p.Ala359=)
|
rs145641295
|
0.00084
|
|
NM_001371279.1(REEP1):c.529C>T (p.Arg177Trp)
|
rs144874997
|
0.00084
|
|
NM_001379286.1(ZNF423):c.819C>T (p.Cys273=)
|
rs201499268
|
0.00084
|
|
NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly)
|
rs149685738
|
0.00084
|
|
NM_003640.5(ELP1):c.203G>T (p.Ser68Ile)
|
rs143723093
|
0.00084
|
|
NM_003907.3(EIF2B5):c.1870-5C>A
|
rs144864475
|
0.00084
|
|
NM_004525.3(LRP2):c.987G>A (p.Ala329=)
|
rs141751667
|
0.00084
|
|
NM_004655.4(AXIN2):c.1985T>C (p.Leu662Pro)
|
rs142476324
|
0.00084
|
|
NM_004667.6(HERC2):c.3357G>A (p.Ala1119=)
|
rs140345440
|
0.00084
|
|
NM_005477.3(HCN4):c.3010C>T (p.Pro1004Ser)
|
rs201418838
|
0.00084
|
|
NM_005529.7(HSPG2):c.10917C>T (p.Tyr3639=)
|
rs111558823
|
0.00084
|
|
NM_006059.4(LAMC3):c.2276G>A (p.Gly759Asp)
|
rs150859618
|
0.00084
|
|
NM_006363.6(SEC23B):c.1198T>C (p.Phe400Leu)
|
rs142461689
|
0.00084
|
|
NM_014324.6(AMACR):c.554T>C (p.Val185Ala)
|
rs145786819
|
0.00084
|
|
NM_014363.6(SACS):c.8972G>A (p.Arg2991His)
|
rs192610957
|
0.00084
|
|
NM_014956.5(CEP164):c.1220C>T (p.Ser407Phe)
|
rs150314805
|
0.00084
|
|
NM_018082.6(POLR3B):c.3066C>A (p.Ala1022=)
|
rs145991322
|
0.00084
|
|
NM_020366.4(RPGRIP1):c.808A>G (p.Ile270Val)
|
rs372615343
|
0.00084
|
|
NM_022726.4(ELOVL4):c.931G>A (p.Ala311Thr)
|
rs189898207
|
0.00084
|
|
NM_031475.3(ESPN):c.1760C>T (p.Ala587Val)
|
rs1052745208
|
0.00084
|
|
NM_032634.4(PIGO):c.626A>G (p.Asn209Ser)
|
rs138028827
|
0.00084
|
|
NM_198253.3(TERT):c.1336C>A (p.Arg446Ser)
|
rs567650961
|
0.00084
|
|
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser)
|
rs140080678
|
0.00084
|
|
NM_207361.6(FREM2):c.1580C>T (p.Ser527Leu)
|
rs139804851
|
0.00084
|
|
NM_000071.3(CBS):c.*18G>A
|
rs200259659
|
0.00083
|
|
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)
|
rs111840783
|
0.00083
|
|
NM_000124.4(ERCC6):c.2390C>G (p.Ser797Cys)
|
rs146043988
|
0.00083
|
|
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu)
|
rs147017625
|
0.00083
|
|
NM_000154.2(GALK1):c.864G>C (p.Thr288=)
|
rs201247556
|
0.00083
|
|
NM_000238.4(KCNH2):c.51C>G (p.Thr17=)
|
rs144338227
|
0.00083
|
|
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn)
|
rs142274954
|
0.00083
|
|
NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val)
|
rs5397
|
0.00083
|
|
NM_000398.7(CYB5R3):c.637G>A (p.Glu213Lys)
|
rs61745147
|
0.00083
|
|
NM_000404.4(GLB1):c.1426C>T (p.Leu476=)
|
rs113534264
|
0.00083
|
|
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)
|
rs111033243
|
0.00083
|
|
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)
|
rs35516286
|
0.00083
|
|
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=)
|
rs111606207
|
0.00083
|
|
NM_000733.4(CD3E):c.470C>T (p.Ala157Val)
|
rs140639753
|
0.00083
|
|
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys)
|
rs149897566
|
0.00083
|
|
NM_001083116.3(PRF1):c.1620A>G (p.Gln540=)
|
rs149776121
|
0.00083
|
|
NM_001127649.3(PEX26):c.728C>T (p.Ala243Val)
|
rs149153003
|
0.00083
|
|
NM_001142800.2(EYS):c.4891C>T (p.Pro1631Ser)
|
rs200935518
|
0.00083
|
|
NM_001145809.2(MYH14):c.615G>A (p.Thr205=)
|
rs199921330
|
0.00083
|
|
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val)
|
rs72648989
|
0.00083
|
|
NM_001267550.2(TTN):c.31757C>A (p.Pro10586Gln)
|
rs200459347
|
0.00083
|
|
NM_001267550.2(TTN):c.44077C>T (p.Arg14693Cys)
|
rs200445568
|
0.00083
|
|
NM_001267550.2(TTN):c.59318A>G (p.Glu19773Gly)
|
rs371719028
|
0.00083
|
|
NM_001298.3(CNGA3):c.284C>T (p.Pro95Leu)
|
rs114108462
|
0.00083
|
|
NM_001330078.2(NRXN1):c.2772C>T (p.Tyr924=)
|
rs200182626
|
0.00083
|
|
NM_001384474.1(LOXHD1):c.3941C>T (p.Thr1314Ile)
|
rs182125538
|
0.00083
|
|
NM_001558.4(IL10RA):c.884C>T (p.Pro295Leu)
|
rs56143179
|
0.00083
|
|
NM_001680.5(FXYD2):c.28G>A (p.Gly10Ser)
|
rs146614981
|
0.00083
|
|
NM_001849.4(COL6A2):c.2170C>T (p.Arg724Cys)
|
rs150098077
|
0.00083
|
|
NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu)
|
rs192047082
|
0.00083
|
|
NM_001927.4(DES):c.785A>T (p.Glu262Val)
|
rs147327878
|
0.00083
|
|
NM_001966.4(EHHADH):c.1804C>T (p.Arg602Trp)
|
rs148208284
|
0.00083
|
|
NM_001966.4(EHHADH):c.2094A>G (p.Leu698=)
|
rs370130327
|
0.00083
|
|
NM_002206.3(ITGA7):c.1606C>T (p.Leu536Phe)
|
rs149028067
|
0.00083
|
|
NM_002334.4(LRP4):c.257G>A (p.Arg86His)
|
rs138239756
|
0.00083
|
|
NM_002878.4(RAD51D):c.919G>A (p.Glu307Lys)
|
rs115031549
|
0.00083
|
|
NM_003036.4(SKI):c.216C>T (p.Pro72=)
|
rs756778048
|
0.00083
|
|
NM_003640.5(ELP1):c.3869A>G (p.Asn1290Ser)
|
rs145319352
|
0.00083
|
|
NM_003737.4(DCHS1):c.1546G>A (p.Ala516Thr)
|
rs142972252
|
0.00083
|
|
NM_004525.3(LRP2):c.9650A>G (p.Tyr3217Cys)
|
rs143150497
|
0.00083
|
|
NM_004565.3(PEX14):c.602A>G (p.Asn201Ser)
|
rs142285791
|
0.00083
|
|
NM_004714.3(DYRK1B):c.*9C>G
|
rs370237703
|
0.00083
|
|
NM_005262.3(GFER):c.550C>A (p.Pro184Thr)
|
rs183638147
|
0.00083
|
|
NM_005529.7(HSPG2):c.8941G>A (p.Val2981Ile)
|
rs2229490
|
0.00083
|
|
NM_006005.3(WFS1):c.2195G>A (p.Arg732His)
|
rs149013740
|
0.00083
|
|
NM_006005.3(WFS1):c.966C>T (p.His322=)
|
rs140196582
|
0.00083
|
|
NM_006086.4(TUBB3):c.921C>T (p.His307=)
|
rs147283850
|
0.00083
|
|
NM_006502.3(POLH):c.698A>G (p.Asn233Ser)
|
rs61756403
|
0.00083
|
|
NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp)
|
rs139063843
|
0.00083
|
|
NM_007055.4(POLR3A):c.3436G>A (p.Ala1146Thr)
|
rs41274600
|
0.00083
|
|
NM_012208.4(HARS2):c.784C>G (p.Pro262Ala)
|
rs145104612
|
0.00083
|
|
NM_012452.3(TNFRSF13B):c.568G>C (p.Gly190Arg)
|
rs150101848
|
0.00083
|
|
NM_012472.6(DNAAF11):c.232A>G (p.Ile78Val)
|
rs146175329
|
0.00083
|
|
NM_014714.4(IFT140):c.2057C>G (p.Ala686Gly)
|
rs140941344
|
0.00083
|
|
NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp)
|
rs56059137
|
0.00083
|
|
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn)
|
rs61978638
|
0.00083
|
|
NM_018060.4(IARS2):c.1057A>T (p.Thr353Ser)
|
rs141215374
|
0.00083
|
|
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)
|
rs142269885
|
0.00083
|
|
NM_018946.4(NANS):c.752C>T (p.Ser251Leu)
|
rs117325934
|
0.00083
|
|
NM_019066.5(MAGEL2):c.2281G>C (p.Ala761Pro)
|
rs146970674
|
0.00083
|
|
NM_019066.5(MAGEL2):c.2362A>T (p.Ser788Cys)
|
rs113329438
|
0.00083
|
|
NM_019066.5(MAGEL2):c.3690G>C (p.Glu1230Asp)
|
rs34875116
|
0.00083
|
|
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His)
|
rs139382267
|
0.00083
|
|
NM_021098.3(CACNA1H):c.5924C>T (p.Ser1975Phe)
|
rs186422070
|
0.00083
|
|
NM_021939.4(FKBP10):c.174A>G (p.Glu58=)
|
rs150052125
|
0.00083
|
|
NM_022095.4(ZNF335):c.1646+5G>T
|
rs149232277
|
0.00083
|
|
NM_024105.4(ALG12):c.1299C>T (p.Leu433=)
|
rs150614794
|
0.00083
|
|
NM_024678.6(NARS2):c.1042C>T (p.Arg348Trp)
|
rs149061222
|
0.00083
|
|
NM_025099.6(CTC1):c.1728G>A (p.Pro576=)
|
rs78320653
|
0.00083
|
|
NM_025207.5(FLAD1):c.1119G>A (p.Gly373=)
|
rs142224458
|
0.00083
|
|
NM_032119.4(ADGRV1):c.17758C>A (p.Leu5920Ile)
|
rs202110635
|
0.00083
|
|
NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val)
|
rs202064612
|
0.00083
|
|
NM_032119.4(ADGRV1):c.9447+6G>A
|
rs201481219
|
0.00083
|
|
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met)
|
rs71534280
|
0.00083
|
|
NM_138387.4(G6PC3):c.566G>A (p.Arg189Gln)
|
rs140294222
|
0.00083
|
|
NM_138959.3(VANGL1):c.274A>G (p.Ile92Val)
|
rs143196463
|
0.00083
|
|
NM_139076.3(ABRAXAS1):c.755G>A (p.Arg252Gln)
|
rs114513239
|
0.00083
|
|
NM_145046.5(CALR3):c.245A>G (p.Lys82Arg)
|
rs142951029
|
0.00083
|
|
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile)
|
rs138728350
|
0.00083
|
|
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser)
|
rs150367317
|
0.00083
|
|
NM_152743.4(BRAT1):c.1564G>C (p.Glu522Gln)
|
rs145509776
|
0.00083
|
|
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)
|
rs119103248
|
0.00083
|
|
NM_183357.3(ADCY5):c.2347G>A (p.Val783Met)
|
rs147630334
|
0.00083
|
|
NM_183357.3(ADCY5):c.55G>A (p.Ala19Thr)
|
rs550254165
|
0.00083
|
|
NM_205850.3(SLC24A5):c.347C>G (p.Ala116Gly)
|
rs150379789
|
0.00083
|
|
NM_213595.4(ISCU):c.475C>G (p.Pro159Ala)
|
rs113036584
|
0.00083
|
|
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp)
|
rs146651049
|
0.00082
|
|
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg)
|
rs28897706
|
0.00082
|
|
NM_000092.5(COL4A4):c.195T>C (p.Gly65=)
|
rs201278620
|
0.00082
|
|
NM_000124.4(ERCC6):c.3719G>T (p.Ser1240Ile)
|
rs142219494
|
0.00082
|
|
NM_000152.5(GAA):c.1755-18T>C
|
rs201399518
|
0.00082
|
|
NM_000326.5(RLBP1):c.303C>T (p.Arg101=)
|
rs144254383
|
0.00082
|
|
NM_000426.4(LAMA2):c.7440-9G>A
|
rs369558532
|
0.00082
|
|
NM_000452.3(SLC10A2):c.425C>T (p.Pro142Leu)
|
rs117447044
|
0.00082
|
|
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=)
|
rs45486193
|
0.00082
|
|
NM_001029883.3(PCARE):c.667C>G (p.Leu223Val)
|
rs372323929
|
0.00082
|
|
NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=)
|
rs72647541
|
0.00082
|
|
NM_001039141.3(TRIOBP):c.3309C>T (p.His1103=)
|
rs199594270
|
0.00082
|
|
NM_001123385.2(BCOR):c.2514C>A (p.Pro838=)
|
rs147497014
|
0.00082
|
|
NM_001127671.2(LIFR):c.2934G>A (p.Gln978=)
|
rs148354076
|
0.00082
|
|
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser)
|
rs138654170
|
0.00082
|
|
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=)
|
rs145690047
|
0.00082
|
|
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn)
|
rs72648973
|
0.00082
|
|
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln)
|
rs72648238
|
0.00082
|
|
NM_001384910.1(GUCA1A):c.152C>T (p.Ser51Leu)
|
rs137931613
|
0.00082
|
|
NM_004260.4(RECQL4):c.308C>T (p.Pro103Leu)
|
rs199543866
|
0.00082
|
|
NM_004369.4(COL6A3):c.8636C>T (p.Thr2879Met)
|
rs150907698
|
0.00082
|
|
NM_004484.4(GPC3):c.826G>A (p.Gly276Ser)
|
rs141100113
|
0.00082
|
|
NM_006231.4(POLE):c.139C>T (p.Arg47Trp)
|
rs143626223
|
0.00082
|
|
NM_007078.3(LDB3):c.466G>A (p.Ala156Thr)
|
rs200596619
|
0.00082
|
|
NM_014629.4(ARHGEF10):c.401C>T (p.Ala134Val)
|
rs151080025
|
0.00082
|
|
NM_015114.3(ANKLE2):c.530C>T (p.Ser177Leu)
|
rs185977448
|
0.00082
|
|
NM_020458.4(TTC7A):c.1138G>A (p.Ala380Thr)
|
rs115479276
|
0.00082
|
|
NM_020549.5(CHAT):c.1069G>A (p.Gly357Arg)
|
rs61731735
|
0.00082
|
|
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys)
|
rs192857413
|
0.00082
|
|
NM_173630.4(RTTN):c.2536G>A (p.Val846Ile)
|
rs113536228
|
0.00082
|
|
NM_182914.3(SYNE2):c.12673C>T (p.Pro4225Ser)
|
rs149296737
|
0.00082
|
|
NM_182961.4(SYNE1):c.24881A>G (p.Asp8294Gly)
|
rs138407813
|
0.00082
|
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
|
NM_000063.6(C2):c.2171C>T (p.Pro724Leu)
|
rs145050210
|
0.00081
|
|
NM_000126.4(ETFA):c.6C>T (p.Phe2=)
|
rs749929239
|
0.00081
|
|
NM_000128.4(F11):c.797G>A (p.Ser266Asn)
|
rs145168351
|
0.00081
|
|
NM_000130.5(F5):c.4405T>C (p.Ser1469Pro)
|
rs144262027
|
0.00081
|
|
NM_000142.5(FGFR3):c.1923C>T (p.Asp641=)
|
rs148104605
|
0.00081
|
|
NM_000159.4(GCDH):c.471C>T (p.Ser157=)
|
rs146682905
|
0.00081
|
|
NM_000203.5(IDUA):c.408C>T (p.Ala136=)
|
rs138195998
|
0.00081
|
|
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly)
|
rs61736440
|
0.00081
|
|
NM_000365.6(TPI1):c.366C>T (p.Leu122=)
|
rs138131191
|
0.00081
|
|
NM_000410.4(HFE):c.829G>A (p.Glu277Lys)
|
rs140080192
|
0.00081
|
|
NM_000883.4(IMPDH1):c.336C>T (p.Ala112=)
|
rs547740249
|
0.00081
|
|
NM_001032221.6(STXBP1):c.1702+10C>T
|
rs147607230
|
0.00081
|
|
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)
|
rs150792276
|
0.00081
|
|
NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val)
|
rs200650758
|
0.00081
|
|
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)
|
rs200130356
|
0.00081
|
|
NM_001130987.2(DYSF):c.3756+9G>T
|
rs191746041
|
0.00081
|
|
NM_001134665.3(TRMT10A):c.665C>T (p.Ala222Val)
|
rs140905333
|
0.00081
|
|
NM_001142800.2(EYS):c.2562C>T (p.Asp854=)
|
rs188011013
|
0.00081
|
|
NM_001203.3(BMPR1B):c.671G>A (p.Arg224His)
|
rs35973133
|
0.00081
|
|
NM_001277115.2(DNAH11):c.11374A>G (p.Ile3792Val)
|
rs201700629
|
0.00081
|
|
NM_001292063.2(OTOG):c.2657C>T (p.Thr886Met)
|
rs113688475
|
0.00081
|
|
NM_001292063.2(OTOG):c.385G>A (p.Val129Met)
|
rs552304627
|
0.00081
|
|
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys)
|
rs140243105
|
0.00081
|
|
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys)
|
rs201834513
|
0.00081
|
|
NM_001367624.2(ZNF469):c.9676C>A (p.His3226Asn)
|
rs867530230
|
0.00081
|
|
NM_001367721.1(CASK):c.2317+9T>C
|
rs5964007
|
0.00081
|
|
NM_001377.3(DYNC2H1):c.10845G>A (p.Pro3615=)
|
rs187451323
|
0.00081
|
|
NM_001377.3(DYNC2H1):c.2482A>G (p.Met828Val)
|
rs200961157
|
0.00081
|
|
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile)
|
rs150887098
|
0.00081
|
|
NM_001377299.1(NDUFS2):c.959T>C (p.Val320Ala)
|
rs144937332
|
0.00081
|
|
NM_001378477.3(NYX):c.567C>A (p.Ile189=)
|
rs746383908
|
0.00081
|
|
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala)
|
rs145017164
|
0.00081
|
|
NM_001848.3(COL6A1):c.2642C>T (p.Thr881Met)
|
rs150432347
|
0.00081
|
|
NM_001875.5(CPS1):c.2192+6A>T
|
rs201058019
|
0.00081
|
|
NM_001876.4(CPT1A):c.961G>A (p.Glu321Lys)
|
rs114030714
|
0.00081
|
|
NM_001999.4(FBN2):c.2427T>A (p.Ile809=)
|
rs139686090
|
0.00081
|
|
NM_002206.3(ITGA7):c.2651A>T (p.Glu884Val)
|
rs149963176
|
0.00081
|
|
NM_002473.6(MYH9):c.*8C>T
|
rs201455315
|
0.00081
|
|
NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr)
|
rs142658611
|
0.00081
|
|
NM_002500.5(NEUROD1):c.610C>T (p.Pro204Ser)
|
rs142123958
|
0.00081
|
|
NM_002546.4(TNFRSF11B):c.234C>T (p.Asp78=)
|
rs144654126
|
0.00081
|
|
NM_004181.5(UCHL1):c.370A>C (p.Met124Leu)
|
rs150601238
|
0.00081
|
|
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys)
|
rs35619497
|
0.00081
|
|
NM_004447.6(EPS8):c.1330T>C (p.Phe444Leu)
|
rs139258361
|
0.00081
|
|
NM_004568.6(SERPINB6):c.100A>G (p.Met34Val)
|
rs145538358
|
0.00081
|
|
NM_004577.4(PSPH):c.455C>T (p.Thr152Ile)
|
rs147304638
|
0.00081
|
|
NM_004787.4(SLIT2):c.934A>G (p.Ile312Val)
|
rs139850475
|
0.00081
|
|
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser)
|
rs114468011
|
0.00081
|
|
NM_006901.4(MYO9A):c.1987-6A>G
|
rs200246273
|
0.00081
|
|
NM_006946.4(SPTBN2):c.157+5G>A
|
rs150159444
|
0.00081
|
|
NM_007325.5(GRIA3):c.397G>A (p.Ala133Thr)
|
rs151086692
|
0.00081
|
|
NM_012301.4(MAGI2):c.2454C>T (p.Arg818=)
|
rs148580718
|
0.00081
|
|
NM_012472.6(DNAAF11):c.719T>C (p.Leu240Ser)
|
rs147849568
|
0.00081
|
|
NM_015102.5(NPHP4):c.1867A>G (p.Thr623Ala)
|
rs35959882
|
0.00081
|
|
NM_016373.4(WWOX):c.1178C>T (p.Thr393Met)
|
rs139253468
|
0.00081
|
|
NM_016495.6(TBC1D7):c.446T>C (p.Val149Ala)
|
rs112668572
|
0.00081
|
|
NM_020944.3(GBA2):c.1552C>T (p.Arg518Trp)
|
rs142883889
|
0.00081
|
|
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val)
|
rs149372969
|
0.00081
|
|
NM_023036.6(DNAI2):c.1715C>T (p.Pro572Leu)
|
rs151241589
|
0.00081
|
|
NM_024989.4(PGAP1):c.2287G>A (p.Val763Ile)
|
rs143960563
|
0.00081
|
|
NM_024996.7(GFM1):c.667A>G (p.Ile223Val)
|
rs143446452
|
0.00081
|
|
NM_025179.4(PLXNA2):c.3451A>G (p.Thr1151Ala)
|
rs138766213
|
0.00081
|
|
NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala)
|
rs145758265
|
0.00081
|
|
NM_032806.6(POMGNT2):c.1388G>A (p.Arg463His)
|
rs143394182
|
0.00081
|
|
NM_152393.4(KLHL40):c.1273G>A (p.Gly425Ser)
|
rs138791086
|
0.00081
|
|
NM_153700.2(STRC):c.4157T>C (p.Val1386Ala)
|
rs377674360
|
0.00081
|
|
NM_170699.3(GPBAR1):c.189C>T (p.Leu63=)
|
rs111925653
|
0.00081
|
|
NM_173551.5(ANKS6):c.2564T>C (p.Phe855Ser)
|
rs200644058
|
0.00081
|
|
NM_173630.4(RTTN):c.1221A>G (p.Glu407=)
|
rs112327299
|
0.00081
|
|
NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys)
|
rs140613217
|
0.00081
|
|
NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val)
|
rs142284613
|
0.00081
|
|
NM_198428.3(BBS9):c.2105C>A (p.Thr702Asn)
|
rs149362446
|
0.00081
|
|
NM_199242.3(UNC13D):c.610A>G (p.Met204Val)
|
rs144722609
|
0.00081
|
|
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)
|
rs41302239
|
0.00081
|
|
NM_000023.4(SGCA):c.843C>A (p.Ala281=)
|
rs149487996
|
0.00080
|
|
NM_000051.4(ATM):c.334G>A (p.Ala112Thr)
|
rs146382972
|
0.00080
|
|
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu)
|
rs142085247
|
0.00080
|
|
NM_000091.5(COL4A3):c.4295G>A (p.Arg1432His)
|
rs200509072
|
0.00080
|
|
NM_000108.5(DLD):c.788G>A (p.Arg263His)
|
rs145670503
|
0.00080
|
|
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr)
|
rs201826605
|
0.00080
|
|
NM_000207.2(INS):c.-139A>G
|
rs571342427
|
0.00080
|
|
NM_000426.4(LAMA2):c.8282T>C (p.Ile2761Thr)
|
rs115650537
|
0.00080
|
|
NM_000452.3(SLC10A2):c.194C>T (p.Pro65Leu)
|
rs112657170
|
0.00080
|
|
NM_000482.4(APOA4):c.1006G>A (p.Val336Met)
|
rs145761354
|
0.00080
|
|
NM_000521.4(HEXB):c.1082+13C>T
|
rs201428805
|
0.00080
|
|
NM_000532.5(PCCB):c.882C>T (p.Pro294=)
|
rs142730126
|
0.00080
|
|
NM_000540.3(RYR1):c.14257G>A (p.Ala4753Thr)
|
rs138156449
|
0.00080
|
|
NM_000540.3(RYR1):c.7536C>T (p.Ile2512=)
|
rs368560744
|
0.00080
|
|
NM_000744.7(CHRNA4):c.1108C>T (p.Arg370Trp)
|
rs76378652
|
0.00080
|
|
NM_001036.6(RYR3):c.5393G>A (p.Arg1798Gln)
|
rs148818748
|
0.00080
|
|
NM_001040716.2(PC):c.2550C>T (p.Cys850=)
|
rs61749179
|
0.00080
|
|
NM_001044.5(SLC6A3):c.499C>T (p.Leu167Phe)
|
rs71653633
|
0.00080
|
|
NM_001089.3(ABCA3):c.2216G>C (p.Gly739Ala)
|
rs150175668
|
0.00080
|
|
NM_001130987.2(DYSF):c.4694A>C (p.Lys1565Thr)
|
rs76086153
|
0.00080
|
|
NM_001142864.4(PIEZO1):c.3602C>T (p.Thr1201Met)
|
rs372935580
|
0.00080
|
|
NM_001256545.2(MEGF10):c.1975+10G>A
|
rs148814585
|
0.00080
|
|
NM_001277115.2(DNAH11):c.13049+15C>T
|
rs200860431
|
0.00080
|
|
NM_001277115.2(DNAH11):c.7325A>G (p.Lys2442Arg)
|
rs114286628
|
0.00080
|
|
NM_001378454.1(ALMS1):c.4344A>G (p.Leu1448=)
|
rs200459890
|
0.00080
|
|
NM_001378615.1(CC2D2A):c.1017+7G>A
|
rs137919504
|
0.00080
|
|
NM_001378615.1(CC2D2A):c.1956G>A (p.Pro652=)
|
rs375131519
|
0.00080
|
|
NM_001692.4(ATP6V1B1):c.264G>A (p.Ala88=)
|
rs147576439
|
0.00080
|
|
NM_001848.3(COL6A1):c.350T>C (p.Val117Ala)
|
rs138899581
|
0.00080
|
|
NM_001848.3(COL6A1):c.996C>T (p.Gly332=)
|
rs11702055
|
0.00080
|
|
NM_002181.4(IHH):c.857C>T (p.Pro286Leu)
|
rs140093604
|
0.00080
|
|
NM_003049.4(SLC10A1):c.702T>G (p.Phe234Leu)
|
rs139931299
|
0.00080
|
|
NM_003151.4(STAT4):c.1337C>T (p.Thr446Ile)
|
rs141331848
|
0.00080
|
|
NM_004341.5(CAD):c.6001G>A (p.Val2001Ile)
|
rs144801319
|
0.00080
|
|
NM_004517.4(ILK):c.65A>G (p.Asn22Ser)
|
rs114115159
|
0.00080
|
|
NM_004565.3(PEX14):c.29C>G (p.Pro10Arg)
|
rs12068754
|
0.00080
|
|
NM_005045.4(RELN):c.4182A>G (p.Ser1394=)
|
rs147496823
|
0.00080
|
|
NM_006397.3(RNASEH2A):c.758T>C (p.Ile253Thr)
|
rs145662304
|
0.00080
|
|
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro)
|
rs138951890
|
0.00080
|
|
NM_012418.4(FSCN2):c.492C>T (p.Asp164=)
|
rs370382419
|
0.00080
|
|
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg)
|
rs146873848
|
0.00080
|
|
NM_017491.5(WDR1):c.1433C>T (p.Thr478Met)
|
rs186889066
|
0.00080
|
|
NM_022124.6(CDH23):c.1301A>G (p.Asn434Ser)
|
rs139287714
|
0.00080
|
|
NM_024596.5(MCPH1):c.1193C>T (p.Ala398Val)
|
rs202241113
|
0.00080
|
|
NM_025074.7(FRAS1):c.9446C>T (p.Thr3149Met)
|
rs150680111
|
0.00080
|
|
NM_025114.4(CEP290):c.2487A>G (p.Glu829=)
|
rs371159780
|
0.00080
|
|
NM_152617.4(RNF168):c.529G>A (p.Glu177Lys)
|
rs112513009
|
0.00080
|
|
NM_153676.4(USH1C):c.2443C>T (p.Leu815=)
|
rs148477093
|
0.00080
|
|
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val)
|
rs139897506
|
0.00080
|
|
NM_178452.6(DNAAF1):c.546C>G (p.Asn182Lys)
|
rs144018942
|
0.00080
|
|
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=)
|
rs137919524
|
0.00080
|
|
NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro)
|
rs151247098
|
0.00080
|
|
NM_182961.4(SYNE1):c.8015T>C (p.Leu2672Pro)
|
rs147870520
|
0.00080
|
|
NM_198271.5(LMOD3):c.247C>T (p.Arg83Cys)
|
rs200367429
|
0.00080
|
|
NM_199355.4(ADAMTS18):c.3157C>T (p.Arg1053Trp)
|
rs148703569
|
0.00080
|
|
NM_201384.3(PLEC):c.1878T>A (p.Thr626=)
|
rs377039110
|
0.00080
|
|
NM_201384.3(PLEC):c.2478C>T (p.Asp826=)
|
rs202135215
|
0.00080
|
|
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)
|
rs35818432
|
0.00080
|
|
NM_000016.6(ACADM):c.645T>A (p.Ala215=)
|
rs147395095
|
0.00079
|
|
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser)
|
rs149636614
|
0.00079
|
|
NM_000051.4(ATM):c.7928-10T>C
|
rs188404773
|
0.00079
|
|
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg)
|
rs140169311
|
0.00079
|
|
NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln)
|
rs144562730
|
0.00079
|
|
NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu)
|
rs62645939
|
0.00079
|
|
NM_000540.3(RYR1):c.10119G>A (p.Val3373=)
|
rs140689610
|
0.00079
|
|
NM_001004334.4(GPR179):c.5982C>T (p.Ala1994=)
|
rs185715311
|
0.00079
|
|
NM_001040142.2(SCN2A):c.5446G>T (p.Ala1816Ser)
|
rs147084515
|
0.00079
|
|
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=)
|
rs150015024
|
0.00079
|
|
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile)
|
rs56130023
|
0.00079
|
|
NM_001267550.2(TTN):c.85248A>T (p.Thr28416=)
|
rs187180708
|
0.00079
|
|
NM_001277115.2(DNAH11):c.12632C>T (p.Pro4211Leu)
|
rs142585703
|
0.00079
|
|
NM_001378609.3(OTOGL):c.3675G>C (p.Gln1225His)
|
rs139375212
|
0.00079
|
|
NM_001379270.1(CNGA1):c.360C>T (p.Asn120=)
|
rs147591591
|
0.00079
|
|
NM_001793.6(CDH3):c.2356G>A (p.Gly786Ser)
|
rs34813787
|
0.00079
|
|
NM_001844.5(COL2A1):c.1068G>A (p.Pro356=)
|
rs147202936
|
0.00079
|
|
NM_001851.6(COL9A1):c.2585A>C (p.Asp862Ala)
|
rs202176764
|
0.00079
|
|
NM_002474.3(MYH11):c.2005C>T (p.Arg669Cys)
|
rs111404182
|
0.00079
|
|
NM_003060.4(SLC22A5):c.1380C>T (p.Asn460=)
|
rs149521997
|
0.00079
|
|
NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro)
|
rs150572999
|
0.00079
|
|
NM_004366.6(CLCN2):c.370C>T (p.Arg124Trp)
|
rs139188499
|
0.00079
|
|
NM_005327.7(HADH):c.614G>C (p.Gly205Ala)
|
rs144699575
|
0.00079
|
|
NM_005529.7(HSPG2):c.13145C>A (p.Ala4382Asp)
|
rs116316900
|
0.00079
|
|
NM_005559.4(LAMA1):c.6025G>A (p.Ala2009Thr)
|
rs147813944
|
0.00079
|
|
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser)
|
rs147366706
|
0.00079
|
|
NM_006059.4(LAMC3):c.2227A>G (p.Asn743Asp)
|
rs36030184
|
0.00079
|
|
NM_006302.3(MOGS):c.1851T>A (p.His617Gln)
|
rs199939051
|
0.00079
|
|
NM_012254.3(SLC27A5):c.934G>A (p.Val312Ile)
|
rs146682651
|
0.00079
|
|
NM_014855.3(AP5Z1):c.999C>T (p.Asp333=)
|
rs201196622
|
0.00079
|
|
NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala)
|
rs200532919
|
0.00079
|
|
NM_018668.5(VPS33B):c.1714T>G (p.Phe572Val)
|
rs145092724
|
0.00079
|
|
NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp)
|
rs74162075
|
0.00079
|
|
NM_023110.3(FGFR1):c.1098G>A (p.Pro366=)
|
rs56174879
|
0.00079
|
|
NM_024312.5(GNPTAB):c.3516T>C (p.Tyr1172=)
|
rs201592854
|
0.00079
|
|
NM_025132.4(WDR19):c.1198C>T (p.Leu400=)
|
rs199765304
|
0.00079
|
|
NM_025132.4(WDR19):c.2364-3del
|
rs757992911
|
0.00079
|
|
NM_033163.5(FGF8):c.77C>T (p.Pro26Leu)
|
rs137852660
|
0.00079
|
|
NM_130810.4(DNAAF4):c.862A>G (p.Lys288Glu)
|
rs147149511
|
0.00079
|
|
NM_152743.4(BRAT1):c.2041G>A (p.Glu681Lys)
|
rs145833100
|
0.00079
|
|
NM_153717.3(EVC):c.1770C>T (p.Asp590=)
|
rs141755737
|
0.00079
|
|
NM_173630.4(RTTN):c.4615G>A (p.Asp1539Asn)
|
rs201473797
|
0.00079
|
|
NM_173689.7(CRB2):c.2519C>G (p.Pro840Arg)
|
rs61740212
|
0.00079
|
|
NM_201384.3(PLEC):c.7121G>A (p.Arg2374Gln)
|
rs201417343
|
0.00079
|
|
NM_207122.2(EXT2):c.1588G>A (p.Glu530Lys)
|
rs148711133
|
0.00079
|
|
NM_207361.6(FREM2):c.177T>C (p.Gly59=)
|
rs370018440
|
0.00079
|
|
NM_207361.6(FREM2):c.2823C>T (p.Pro941=)
|
rs150154438
|
0.00079
|
|
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=)
|
rs373081328
|
0.00078
|
|
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)
|
rs112084407
|
0.00078
|
|
NM_000170.3(GLDC):c.2863G>A (p.Val955Ile)
|
rs148540696
|
0.00078
|
|
NM_000203.5(IDUA):c.234C>T (p.Gly78=)
|
rs138932617
|
0.00078
|
|
NM_000271.5(NPC1):c.1947+8G>C
|
rs66620415
|
0.00078
|
|
NM_000275.3(OCA2):c.1117-17T>C
|
rs200081580
|
0.00078
|
|
NM_000283.4(PDE6B):c.1497T>G (p.Phe499Leu)
|
rs150000610
|
0.00078
|
|
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr)
|
rs140473672
|
0.00078
|
|
NM_000350.3(ABCA4):c.1932C>T (p.Asp644=)
|
rs117400594
|
0.00078
|
|
NM_000379.4(XDH):c.3647C>A (p.Pro1216His)
|
rs143981573
|
0.00078
|
|
NM_000392.5(ABCC2):c.4495A>G (p.Met1499Val)
|
rs149200446
|
0.00078
|
|
NM_000433.4(NCF2):c.938C>T (p.Pro313Leu)
|
rs137937390
|
0.00078
|
|
NM_000528.4(MAN2B1):c.1230+9G>C
|
rs367590716
|
0.00078
|
|
NM_001083961.2(WDR62):c.3303G>A (p.Thr1101=)
|
rs117887683
|
0.00078
|
|
NM_001105206.3(LAMA4):c.4678C>A (p.Arg1560=)
|
rs150069819
|
0.00078
|
|
NM_001134363.3(RBM20):c.1179C>T (p.Pro393=)
|
rs200588338
|
0.00078
|
|
NM_001160372.4(TRAPPC9):c.3241G>A (p.Val1081Ile)
|
rs141067069
|
0.00078
|
|
NM_001164508.2(NEB):c.19219G>A (p.Glu6407Lys)
|
rs144539316
|
0.00078
|
|
NM_001277115.2(DNAH11):c.12969G>C (p.Gln4323His)
|
rs191802172
|
0.00078
|
|
NM_001277313.2(FMN1):c.3974A>G (p.Gln1325Arg)
|
rs147769257
|
0.00078
|
|
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met)
|
rs72954276
|
0.00078
|
|
NM_001363711.2(DUOX2):c.4637A>G (p.Glu1546Gly)
|
rs201229193
|
0.00078
|
|
NM_001364905.1(LRBA):c.2209G>A (p.Val737Ile)
|
rs151213445
|
0.00078
|
|
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser)
|
rs199874928
|
0.00078
|
|
NM_001384732.1(CPLANE1):c.2132C>T (p.Ser711Leu)
|
rs116237993
|
0.00078
|
|
NM_001430.5(EPAS1):c.1104G>A (p.Met368Ile)
|
rs61757375
|
0.00078
|
|
NM_001848.3(COL6A1):c.381C>T (p.Thr127=)
|
rs75180385
|
0.00078
|
|
NM_001918.5(DBT):c.327C>T (p.Thr109=)
|
rs138796800
|
0.00078
|
|
NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met)
|
rs111854563
|
0.00078
|
|
NM_002691.4(POLD1):c.2565-17G>A
|
rs200576676
|
0.00078
|
|
NM_002693.3(POLG):c.2853C>T (p.Tyr951=)
|
rs41546712
|
0.00078
|
|
NM_002857.4(PEX19):c.564G>A (p.Leu188=)
|
rs149058086
|
0.00078
|
|
NM_003482.4(KMT2D):c.9662C>A (p.Thr3221Asn)
|
rs200601717
|
0.00078
|
|
NM_004387.4(NKX2-5):c.114G>A (p.Glu38=)
|
rs151314714
|
0.00078
|
|
NM_004409.5(DMPK):c.1477C>T (p.Arg493Cys)
|
rs78771765
|
0.00078
|
|
NM_004525.3(LRP2):c.6160G>A (p.Asp2054Asn)
|
rs138269726
|
0.00078
|
|
NM_005199.5(CHRNG):c.775G>A (p.Ala259Thr)
|
rs138125827
|
0.00078
|
|
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=)
|
rs376049260
|
0.00078
|
|
NM_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr)
|
rs116630187
|
0.00078
|
|
NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val)
|
rs140954748
|
0.00078
|
|
NM_005732.4(RAD50):c.3036+5G>A
|
rs181016343
|
0.00078
|
|
NM_005982.4(SIX1):c.330G>A (p.Arg110=)
|
rs73309461
|
0.00078
|
|
NM_006059.4(LAMC3):c.3374C>T (p.Ser1125Leu)
|
rs151213335
|
0.00078
|
|
NM_013432.5(TONSL):c.712C>T (p.Arg238Trp)
|
rs149978949
|
0.00078
|
|
NM_014317.5(PDSS1):c.760G>C (p.Glu254Gln)
|
rs145758711
|
0.00078
|
|
NM_015046.7(SETX):c.5949+5G>A
|
rs374656811
|
0.00078
|
|
NM_015102.5(NPHP4):c.2820G>A (p.Ala940=)
|
rs35575973
|
0.00078
|
|
NM_015139.3(SLC35D1):c.814G>A (p.Ala272Thr)
|
rs143218310
|
0.00078
|
|
NM_015404.4(WHRN):c.2438C>T (p.Thr813Met)
|
rs143728180
|
0.00078
|
|
NM_016123.4(IRAK4):c.291G>A (p.Ala97=)
|
rs17851028
|
0.00078
|
|
NM_016169.4(SUFU):c.412G>A (p.Ala138Thr)
|
rs34406289
|
0.00078
|
|
NM_017433.5(MYO3A):c.3538G>A (p.Glu1180Lys)
|
rs184043065
|
0.00078
|
|
NM_017636.4(TRPM4):c.2561A>G (p.Gln854Arg)
|
rs172155862
|
0.00078
|
|
NM_018249.6(CDK5RAP2):c.1079C>T (p.Thr360Ile)
|
rs145165171
|
0.00078
|
|
NM_020533.3(MCOLN1):c.1584C>T (p.Gly528=)
|
rs145386883
|
0.00078
|
|
NM_021645.6(UTP14C):c.-486-6T>C
|
rs200751186
|
0.00078
|
|
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr)
|
rs150317197
|
0.00078
|
|
NM_032119.4(ADGRV1):c.10563T>C (p.Leu3521=)
|
rs200946170
|
0.00078
|
|
NM_032119.4(ADGRV1):c.17992G>A (p.Val5998Met)
|
rs557989446
|
0.00078
|
|
NM_052867.4(NALCN):c.4103+4G>C
|
rs201402954
|
0.00078
|
|
NM_139027.6(ADAMTS13):c.3658G>A (p.Gly1220Arg)
|
rs144808448
|
0.00078
|
|
NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser)
|
rs138307707
|
0.00078
|
|
NM_152269.5(MTRFR):c.413A>G (p.Lys138Arg)
|
rs147328685
|
0.00078
|
|
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met)
|
rs117148013
|
0.00078
|
|
NM_152743.4(BRAT1):c.1507C>T (p.Pro503Ser)
|
rs147745609
|
0.00078
|
|
NM_153766.3(KCNJ1):c.505C>T (p.Arg169Cys)
|
rs138120505
|
0.00078
|
|
NM_170699.3(GPBAR1):c.701G>T (p.Gly234Val)
|
rs201017530
|
0.00078
|
|
NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser)
|
rs60662302
|
0.00078
|
|
NM_174936.4(PCSK9):c.1251C>A (p.His417Gln)
|
rs143275858
|
0.00078
|
|
NM_181882.3(PRX):c.2548C>G (p.Pro850Ala)
|
rs141686828
|
0.00078
|
|
NM_182746.3(MCM4):c.2102G>A (p.Arg701Gln)
|
rs143417982
|
0.00078
|
|
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr)
|
rs149253719
|
0.00078
|
|
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly)
|
rs147934285
|
0.00077
|
|
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln)
|
rs72658163
|
0.00077
|
|
NM_000123.4(ERCC5):c.2534-10T>G
|
rs199562917
|
0.00077
|
|
NM_000156.6(GAMT):c.581T>C (p.Val194Ala)
|
rs147739199
|
0.00077
|
|
NM_000284.4(PDHA1):c.507G>A (p.Ala169=)
|
rs141862527
|
0.00077
|
|
NM_000302.4(PLOD1):c.1582G>A (p.Glu528Lys)
|
rs112250644
|
0.00077
|
|
NM_000369.5(TSHR):c.1783G>A (p.Val595Ile)
|
rs142632518
|
0.00077
|
|
NM_000512.5(GALNS):c.324C>T (p.Tyr108=)
|
rs150582627
|
0.00077
|
|
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=)
|
rs143318498
|
0.00077
|
|
NM_000535.7(PMS2):c.2187C>G (p.Leu729=)
|
rs373630535
|
0.00077
|
|
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=)
|
rs35282988
|
0.00077
|
|
NM_000666.3(ACY1):c.332C>T (p.Ala111Val)
|
rs149475049
|
0.00077
|
|
NM_001077365.2(POMT1):c.986+9A>G
|
rs202095070
|
0.00077
|
|
NM_001083961.2(WDR62):c.1228G>T (p.Val410Leu)
|
rs139460397
|
0.00077
|
|
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu)
|
rs139398993
|
0.00077
|
|
NM_001142800.2(EYS):c.1660T>A (p.Cys554Ser)
|
rs145102275
|
0.00077
|
|
NM_001142864.4(PIEZO1):c.5291A>C (p.Glu1764Ala)
|
rs530387460
|
0.00077
|
|
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)
|
rs121912705
|
0.00077
|
|
NM_001164508.2(NEB):c.1258-7C>G
|
rs371265681
|
0.00077
|
|
NM_001199138.2(NLRC4):c.478G>A (p.Ala160Thr)
|
rs113631419
|
0.00077
|
|
NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His)
|
rs34700927
|
0.00077
|
|
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His)
|
rs148169214
|
0.00077
|
|
NM_001369.3(DNAH5):c.9203A>G (p.Glu3068Gly)
|
rs141571121
|
0.00077
|
|
NM_001374385.1(ATP8B1):c.1072G>A (p.Gly358Ser)
|
rs193204986
|
0.00077
|
|
NM_001377.3(DYNC2H1):c.2550G>A (p.Leu850=)
|
rs375307767
|
0.00077
|
|
NM_001378969.1(KCND3):c.1456A>G (p.Thr486Ala)
|
rs149008060
|
0.00077
|
|
NM_001849.4(COL6A2):c.2882C>T (p.Ala961Val)
|
rs138674440
|
0.00077
|
|
NM_001851.6(COL9A1):c.2240C>G (p.Pro747Arg)
|
rs149459564
|
0.00077
|
|
NM_001927.4(DES):c.170C>T (p.Ser57Leu)
|
rs372825868
|
0.00077
|
|
NM_002335.4(LRP5):c.1413-7T>A
|
rs141889567
|
0.00077
|
|
NM_002454.3(MTRR):c.446C>T (p.Ala149Val)
|
rs142714881
|
0.00077
|
|
NM_002972.4(SBF1):c.3760C>T (p.Arg1254Cys)
|
rs200180227
|
0.00077
|
|
NM_003737.4(DCHS1):c.704G>A (p.Arg235Gln)
|
rs143767864
|
0.00077
|
|
NM_003924.4(PHOX2B):c.832G>A (p.Gly278Ser)
|
rs138545772
|
0.00077
|
|
NM_004366.6(CLCN2):c.2683G>A (p.Asp895Asn)
|
rs150751460
|
0.00077
|
|
NM_004369.4(COL6A3):c.4117G>A (p.Ala1373Thr)
|
rs112181324
|
0.00077
|
|
NM_005199.5(CHRNG):c.928A>T (p.Thr310Ser)
|
rs145830034
|
0.00077
|
|
NM_005327.7(HADH):c.*600C>T
|
rs544321475
|
0.00077
|
|
NM_005491.5(MAMLD1):c.1804C>A (p.Gln602Lys)
|
rs142908182
|
0.00077
|
|
NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser)
|
rs150622626
|
0.00077
|
|
NM_005670.4(EPM2A):c.24G>A (p.Val8=)
|
rs587780938
|
0.00077
|
|
NM_005876.5(SPEG):c.6694C>A (p.Pro2232Thr)
|
rs371302780
|
0.00077
|
|
NM_006642.5(SDCCAG8):c.1380G>C (p.Gln460His)
|
rs79762798
|
0.00077
|
|
NM_006767.4(LZTR1):c.1904C>T (p.Pro635Leu)
|
rs148677674
|
0.00077
|
|
NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr)
|
rs143155918
|
0.00077
|
|
NM_012188.5(FOXI1):c.442C>G (p.Gln148Glu)
|
rs553561553
|
0.00077
|
|
NM_014252.4(SLC25A15):c.564C>T (p.Phe188=)
|
rs141028076
|
0.00077
|
|
NM_014669.5(NUP93):c.2342G>A (p.Arg781His)
|
rs147381896
|
0.00077
|
|
NM_014956.5(CEP164):c.1438C>T (p.Arg480Trp)
|
rs112209873
|
0.00077
|
|
NM_018993.4(RIN2):c.2627T>C (p.Ile876Thr)
|
rs202076384
|
0.00077
|
|
NM_022455.5(NSD1):c.3393C>T (p.Asn1131=)
|
rs150296373
|
0.00077
|
|
NM_022458.4(LMBR1):c.843G>A (p.Arg281=)
|
rs140806590
|
0.00077
|
|
NM_025207.5(FLAD1):c.1309C>T (p.Arg437Cys)
|
rs146865554
|
0.00077
|
|
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=)
|
rs148058006
|
0.00077
|
|
NM_032122.5(DTNBP1):c.162G>A (p.Arg54=)
|
rs77460377
|
0.00077
|
|
NM_032387.5(WNK4):c.2157+6G>C
|
rs61755607
|
0.00077
|
|
NM_032415.7(CARD11):c.3145-3C>T
|
rs200456391
|
0.00077
|
|
NM_052989.3(IFT122):c.214T>G (p.Ser72Ala)
|
rs144140226
|
0.00077
|
|
NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln)
|
rs145343609
|
0.00077
|
|
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=)
|
rs184883937
|
0.00077
|
|
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr)
|
rs140095832
|
0.00077
|
|
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=)
|
rs111033525
|
0.00077
|
|
NM_000138.5(FBN1):c.510C>T (p.Tyr170=)
|
rs111671429
|
0.00076
|
|
NM_000291.4(PGK1):c.1048C>T (p.Arg350Trp)
|
rs183087139
|
0.00076
|
|
NM_000340.2(SLC2A2):c.1164G>A (p.Val388=)
|
rs140794946
|
0.00076
|
|
NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln)
|
rs145210664
|
0.00076
|
|
NM_000341.4(SLC3A1):c.788G>C (p.Ser263Thr)
|
rs139310305
|
0.00076
|
|
NM_000406.3(GNRHR):c.436C>T (p.Pro146Ser)
|
rs144900788
|
0.00076
|
|
NM_000483.5(APOC2):c.85G>A (p.Asp29Asn)
|
rs147242592
|
0.00076
|
|
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp)
|
rs137853247
|
0.00076
|
|
NM_000548.5(TSC2):c.628G>A (p.Ala210Thr)
|
rs147196739
|
0.00076
|
|
NM_001003722.2(GLE1):c.5C>G (p.Pro2Arg)
|
rs150246404
|
0.00076
|
|
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu)
|
rs3219494
|
0.00076
|
|
NM_001080.3(ALDH5A1):c.293C>G (p.Ala98Gly)
|
rs535825137
|
0.00076
|
|
NM_001123385.2(BCOR):c.4488A>C (p.Ala1496=)
|
rs138741225
|
0.00076
|
|
NM_001130987.2(DYSF):c.2034G>A (p.Val678=)
|
rs138111360
|
0.00076
|
|
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His)
|
rs186476316
|
0.00076
|
|
NM_001206744.2(TPO):c.660C>T (p.Val220=)
|
rs151154074
|
0.00076
|
|
NM_001232.4(CASQ2):c.481A>G (p.Ile161Val)
|
rs146333579
|
0.00076
|
|
NM_001232.4(CASQ2):c.730C>T (p.His244Tyr)
|
rs142036299
|
0.00076
|
|
NM_001256545.2(MEGF10):c.1130+3G>A
|
rs115184652
|
0.00076
|
|
NM_001267550.2(TTN):c.58226G>A (p.Arg19409His)
|
rs201505306
|
0.00076
|
|
NM_001278512.2(AP3B2):c.2394C>T (p.Ser798=)
|
rs189447069
|
0.00076
|
|
NM_001278716.2(FBXL4):c.737T>C (p.Ile246Thr)
|
rs143154211
|
0.00076
|
|
NM_001292063.2(OTOG):c.4012C>T (p.Arg1338Trp)
|
rs61734125
|
0.00076
|
|
NM_001353214.3(DYM):c.946+7G>A
|
rs150849326
|
0.00076
|
|
NM_001365536.1(SCN9A):c.688+9T>C
|
rs188814235
|
0.00076
|
|
NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser)
|
rs104895467
|
0.00076
|
|
NM_001378183.1(PIEZO2):c.6475G>C (p.Glu2159Gln)
|
rs200276831
|
0.00076
|
|
NM_001378969.1(KCND3):c.1573A>G (p.Met525Val)
|
rs145890206
|
0.00076
|
|
NM_001384732.1(CPLANE1):c.4403C>G (p.Ser1468Cys)
|
rs150556877
|
0.00076
|
|
NM_001848.3(COL6A1):c.1584G>A (p.Pro528=)
|
rs139243418
|
0.00076
|
|
NM_001848.3(COL6A1):c.2968A>C (p.Lys990Gln)
|
rs141663473
|
0.00076
|
|
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr)
|
rs63750043
|
0.00076
|
|
NM_002180.3(IGHMBP2):c.1060+8G>T
|
rs201147313
|
0.00076
|
|
NM_002292.4(LAMB2):c.4118A>G (p.Asp1373Gly)
|
rs112933248
|
0.00076
|
|
NM_002296.4(LBR):c.1237C>T (p.Arg413Cys)
|
rs144672633
|
0.00076
|
|
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=)
|
rs144807538
|
0.00076
|
|
NM_003126.4(SPTA1):c.3167G>T (p.Arg1056Leu)
|
rs188875641
|
0.00076
|
|
NM_003193.5(TBCE):c.253A>G (p.Ile85Val)
|
rs143886167
|
0.00076
|
|
NM_003239.5(TGFB3):c.646+13T>C
|
rs780891440
|
0.00076
|
|
NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp)
|
rs139703788
|
0.00076
|
|
NM_003737.4(DCHS1):c.590C>T (p.Pro197Leu)
|
rs145099391
|
0.00076
|
|
NM_003764.4(STX11):c.26T>G (p.Leu9Arg)
|
rs34470310
|
0.00076
|
|
NM_004369.4(COL6A3):c.1024G>A (p.Val342Met)
|
rs111402193
|
0.00076
|
|
NM_004369.4(COL6A3):c.6138C>T (p.Ile2046=)
|
rs115401779
|
0.00076
|
|
NM_004453.4(ETFDH):c.832-10T>G
|
rs200911913
|
0.00076
|
|
NM_004667.6(HERC2):c.2747-3C>A
|
rs200632307
|
0.00076
|
|
NM_004782.4(SNAP29):c.629C>T (p.Ser210Phe)
|
rs141934766
|
0.00076
|
|
NM_005045.4(RELN):c.3913-9T>C
|
rs372473867
|
0.00076
|
|
NM_005199.5(CHRNG):c.1100T>C (p.Val367Ala)
|
rs74691009
|
0.00076
|
|
NM_005245.4(FAT1):c.2734G>A (p.Val912Ile)
|
rs200097846
|
0.00076
|
|
NM_006005.3(WFS1):c.1152C>T (p.Phe384=)
|
rs149846741
|
0.00076
|
|
NM_006295.3(VARS1):c.1843A>G (p.Met615Val)
|
rs139579796
|
0.00076
|
|
NM_012452.3(TNFRSF13B):c.605G>A (p.Arg202His)
|
rs104894649
|
0.00076
|
|
NM_012463.4(ATP6V0A2):c.1521C>T (p.Ser507=)
|
rs142454880
|
0.00076
|
|
NM_014425.5(INVS):c.1925A>G (p.Lys642Arg)
|
rs116314059
|
0.00076
|
|
NM_015102.5(NPHP4):c.3843G>T (p.Leu1281=)
|
rs9662691
|
0.00076
|
|
NM_016239.4(MYO15A):c.269T>C (p.Met90Thr)
|
rs373294263
|
0.00076
|
|
NM_016341.4(PLCE1):c.2786G>C (p.Ser929Thr)
|
rs61732521
|
0.00076
|
|
NM_016341.4(PLCE1):c.4935G>A (p.Leu1645=)
|
rs369632735
|
0.00076
|
|
NM_017721.5(CC2D1A):c.2508G>C (p.Glu836Asp)
|
rs34146052
|
0.00076
|
|
NM_017739.4(POMGNT1):c.*34G>A
|
rs200540049
|
0.00076
|
|
NM_018451.5(CENPJ):c.3920C>T (p.Thr1307Ile)
|
rs144251950
|
0.00076
|
|
NM_019040.5(ELP4):c.*2982G>A
|
rs191399467
|
0.00076
|
|
NM_020366.4(RPGRIP1):c.2555G>A (p.Arg852Gln)
|
rs181758389
|
0.00076
|
|
NM_020458.4(TTC7A):c.1633G>A (p.Val545Ile)
|
rs6755258
|
0.00076
|
|
NM_020937.4(FANCM):c.2517T>G (p.Ile839Met)
|
rs61744648
|
0.00076
|
|
NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys)
|
rs79324540
|
0.00076
|
|
NM_024915.4(GRHL2):c.804C>T (p.Thr268=)
|
rs55682875
|
0.00076
|
|
NM_025009.5(CEP135):c.2806A>G (p.Ile936Val)
|
rs139474852
|
0.00076
|
|
NM_030662.4(MAP2K2):c.498C>T (p.Pro166=)
|
rs139404261
|
0.00076
|
|
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp)
|
rs145855459
|
0.00076
|
|
NM_032119.4(ADGRV1):c.1033C>A (p.Gln345Lys)
|
rs201236317
|
0.00076
|
|
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile)
|
rs78518523
|
0.00076
|
|
NM_152564.5(VPS13B):c.2596G>A (p.Val866Ile)
|
rs150185067
|
0.00076
|
|
NM_182914.3(SYNE2):c.13424T>C (p.Val4475Ala)
|
rs146977539
|
0.00076
|
|
NM_194248.3(OTOF):c.1910T>C (p.Ile637Thr)
|
rs111033351
|
0.00076
|
|
NM_194318.4(B3GLCT):c.850+11G>A
|
rs199615610
|
0.00076
|
|
NM_201548.5(CERKL):c.1523C>T (p.Ser508Leu)
|
rs146913105
|
0.00076
|
|
NM_203447.4(DOCK8):c.3988C>G (p.Leu1330Val)
|
rs148081681
|
0.00076
|
|
NM_206933.4(USH2A):c.6347A>G (p.His2116Arg)
|
rs111033450
|
0.00076
|
|
NM_000023.4(SGCA):c.366G>A (p.Leu122=)
|
rs147739328
|
0.00075
|
|
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val)
|
rs148432863
|
0.00075
|
|
NM_000073.3(CD3G):c.56G>A (p.Gly19Asp)
|
rs146393315
|
0.00075
|
|
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)
|
rs149729531
|
0.00075
|
|
NM_000288.4(PEX7):c.339+10A>G
|
rs374668045
|
0.00075
|
|
NM_000321.3(RB1):c.2566G>A (p.Asp856Asn)
|
rs149359120
|
0.00075
|
|
NM_000500.9(CYP21A2):c.1306C>T (p.Arg436Cys)
|
rs767333157
|
0.00075
|
|
NM_000528.4(MAN2B1):c.419G>A (p.Arg140Gln)
|
rs139281846
|
0.00075
|
|
NM_000642.3(AGL):c.4214A>G (p.Glu1405Gly)
|
rs28730708
|
0.00075
|
|
NM_000685.5(AGTR1):c.308T>C (p.Ile103Thr)
|
rs145708722
|
0.00075
|
|
NM_000883.4(IMPDH1):c.1173A>G (p.Thr391=)
|
rs138502867
|
0.00075
|
|
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His)
|
rs45510294
|
0.00075
|
|
NM_001083961.2(WDR62):c.3763G>A (p.Val1255Ile)
|
rs146180208
|
0.00075
|
|
NM_001089.3(ABCA3):c.160G>A (p.Ala54Thr)
|
rs147278907
|
0.00075
|
|
NM_001111077.2(EZR):c.959+7G>A
|
rs201317128
|
0.00075
|
|
NM_001130987.2(DYSF):c.6174-9C>T
|
rs201070766
|
0.00075
|
|
NM_001164508.2(NEB):c.7581C>T (p.Tyr2527=)
|
rs200425929
|
0.00075
|
|
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys)
|
rs142525903
|
0.00075
|
|
NM_001349.4(DARS1):c.1150-5T>G
|
rs199776135
|
0.00075
|
|
NM_001365999.1(SZT2):c.8916+8G>A
|
rs147419780
|
0.00075
|
|
NM_001368894.2(PAX6):c.873G>A (p.Gln291=)
|
rs149053004
|
0.00075
|
|
NM_001374385.1(ATP8B1):c.1892G>A (p.Arg631Gln)
|
rs150499790
|
0.00075
|
|
NM_001378183.1(PIEZO2):c.6153C>T (p.Ala2051=)
|
rs375812718
|
0.00075
|
|
NM_001813.3(CENPE):c.4273G>A (p.Gly1425Arg)
|
rs116330917
|
0.00075
|
|
NM_002206.3(ITGA7):c.2293A>G (p.Ile765Val)
|
rs148641361
|
0.00075
|
|
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro)
|
rs141137543
|
0.00075
|
|
NM_003122.5(SPINK1):c.-147A>G
|
rs779832256
|
0.00075
|
|
NM_004369.4(COL6A3):c.5610C>A (p.Ser1870Arg)
|
rs113153193
|
0.00075
|
|
NM_004655.4(AXIN2):c.1168A>G (p.Ser390Gly)
|
rs139871607
|
0.00075
|
|
NM_005529.7(HSPG2):c.4568G>A (p.Arg1523His)
|
rs147633715
|
0.00075
|
|
NM_005548.3(KARS1):c.717T>G (p.Phe239Leu)
|
rs117188693
|
0.00075
|
|
NM_006397.3(RNASEH2A):c.328A>C (p.Lys110Gln)
|
rs143029477
|
0.00075
|
|
NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala)
|
rs148962110
|
0.00075
|
|
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp)
|
rs77984885
|
0.00075
|
|
NM_015909.4(NBAS):c.3361-19A>G
|
rs201607999
|
0.00075
|
|
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met)
|
rs138480247
|
0.00075
|
|
NM_020822.3(KCNT1):c.942C>T (p.Thr314=)
|
rs144766991
|
0.00075
|
|
NM_022089.4(ATP13A2):c.106-8G>A
|
rs200587951
|
0.00075
|
|
NM_022095.4(ZNF335):c.3445A>G (p.Ile1149Val)
|
rs143113106
|
0.00075
|
|
NM_025207.5(FLAD1):c.787C>T (p.Arg263Trp)
|
rs146501091
|
0.00075
|
|
NM_052961.4(SLC26A8):c.2434G>A (p.Glu812Lys)
|
rs142724470
|
0.00075
|
|
NM_052989.3(IFT122):c.1026C>T (p.Asp342=)
|
rs79187669
|
0.00075
|
|
NM_080916.3(DGUOK):c.630G>A (p.Glu210=)
|
rs115206553
|
0.00075
|
|
NM_138694.4(PKHD1):c.7912-5T>G
|
rs371510537
|
0.00075
|
|
NM_152743.4(BRAT1):c.2147C>T (p.Ala716Val)
|
rs140802292
|
0.00075
|
|
NM_153026.3(PRICKLE1):c.2071A>G (p.Thr691Ala)
|
rs149496604
|
0.00075
|
|
NM_183357.3(ADCY5):c.2818G>A (p.Glu940Lys)
|
rs113442895
|
0.00075
|
|
NM_206933.4(USH2A):c.12046G>A (p.Val4016Met)
|
rs138803855
|
0.00075
|
|
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)
|
rs41293475
|
0.00074
|
|
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr)
|
rs28897708
|
0.00074
|
|
NM_000130.5(F5):c.5431A>T (p.Met1811Leu)
|
rs138877178
|
0.00074
|
|
NM_000136.3(FANCC):c.816C>T (p.Ile272=)
|
rs55719336
|
0.00074
|
|
NM_000193.4(SHH):c.1078C>T (p.Leu360=)
|
rs191903572
|
0.00074
|
|
NM_000316.3(PTH1R):c.313+4C>T
|
rs200207404
|
0.00074
|
|
NM_000426.4(LAMA2):c.7869A>G (p.Glu2623=)
|
rs140658201
|
0.00074
|
|
NM_000426.4(LAMA2):c.8586T>C (p.Tyr2862=)
|
rs142451929
|
0.00074
|
|
NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr)
|
rs146269871
|
0.00074
|
|
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn)
|
rs148783445
|
0.00074
|
|
NM_000540.3(RYR1):c.2545G>A (p.Asp849Asn)
|
rs200893443
|
0.00074
|
|
NM_000545.8(HNF1A):c.-89T>C
|
rs767550584
|
0.00074
|
|
NM_000550.3(TYRP1):c.785C>T (p.Thr262Met)
|
rs61752939
|
0.00074
|
|
NM_000553.6(WRN):c.3059G>A (p.Arg1020His)
|
rs115298665
|
0.00074
|
|
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser)
|
rs201090446
|
0.00074
|
|
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe)
|
rs1805031
|
0.00074
|
|
NM_001017420.3(ESCO2):c.1013+7A>G
|
rs149494070
|
0.00074
|
|
NM_001042432.2(CLN3):c.238A>T (p.Thr80Ser)
|
rs150348015
|
0.00074
|
|
NM_001105206.3(LAMA4):c.1959T>C (p.Asp653=)
|
rs143269044
|
0.00074
|
|
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His)
|
rs146733308
|
0.00074
|
|
NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile)
|
rs200387466
|
0.00074
|
|
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser)
|
rs200792504
|
0.00074
|
|
NM_001378609.3(OTOGL):c.1284T>A (p.Asp428Glu)
|
rs202061419
|
0.00074
|
|
NM_004369.4(COL6A3):c.775G>A (p.Ala259Thr)
|
rs141609058
|
0.00074
|
|
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln)
|
rs139306043
|
0.00074
|
|
NM_004562.3(PRKN):c.52G>A (p.Asp18Asn)
|
rs146288080
|
0.00074
|
|
NM_004928.3(CFAP410):c.763G>A (p.Ala255Thr)
|
rs141195315
|
0.00074
|
|
NM_005560.6(LAMA5):c.5680C>T (p.Arg1894Cys)
|
rs141989486
|
0.00074
|
|
NM_006031.6(PCNT):c.4675A>T (p.Met1559Leu)
|
rs180775012
|
0.00074
|
|
NM_006389.5(HYOU1):c.2755A>G (p.Lys919Glu)
|
rs140010748
|
0.00074
|
|
NM_006946.4(SPTBN2):c.1657C>T (p.Arg553Trp)
|
rs116099040
|
0.00074
|
|
NM_012120.3(CD2AP):c.992T>A (p.Leu331His)
|
rs140188898
|
0.00074
|
|
NM_013296.5(GPSM2):c.1486T>A (p.Leu496Ile)
|
rs61758992
|
0.00074
|
|
NM_014425.5(INVS):c.2311G>A (p.Asp771Asn)
|
rs115754570
|
0.00074
|
|
NM_014908.4(DOLK):c.671A>T (p.Asp224Val)
|
rs17485436
|
0.00074
|
|
NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn)
|
rs148424288
|
0.00074
|
|
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn)
|
rs181795958
|
0.00074
|
|
NM_016327.3(UPB1):c.977G>A (p.Arg326Gln)
|
rs118163237
|
0.00074
|
|
NM_018060.4(IARS2):c.951G>A (p.Lys317=)
|
rs146236436
|
0.00074
|
|
NM_018713.3(SLC30A10):c.1293C>A (p.His431Gln)
|
rs79106013
|
0.00074
|
|
NM_024408.4(NOTCH2):c.5074A>G (p.Ile1692Val)
|
rs143134864
|
0.00074
|
|
NM_024577.4(SH3TC2):c.3644G>A (p.Arg1215His)
|
rs145390629
|
0.00074
|
|
NM_025074.7(FRAS1):c.1918C>T (p.Arg640Cys)
|
rs147869493
|
0.00074
|
|
NM_025074.7(FRAS1):c.886G>A (p.Glu296Lys)
|
rs186811333
|
0.00074
|
|
NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln)
|
rs202190568
|
0.00074
|
|
NM_033419.5(PGAP3):c.477G>C (p.Arg159Ser)
|
rs150483675
|
0.00074
|
|
NM_058216.3(RAD51C):c.146-8A>G
|
rs201079501
|
0.00074
|
|
NM_133259.4(LRPPRC):c.1928A>G (p.His643Arg)
|
rs148575027
|
0.00074
|
|
NM_138694.4(PKHD1):c.5752-9G>A
|
rs184441390
|
0.00074
|
|
NM_152564.5(VPS13B):c.2704A>G (p.Lys902Glu)
|
rs149531438
|
0.00074
|
|
NM_182643.3(DLC1):c.2213C>T (p.Thr738Met)
|
rs149472569
|
0.00074
|
|
NM_201384.3(PLEC):c.2263G>A (p.Ala755Thr)
|
rs200173947
|
0.00074
|
|
NM_203446.3(SYNJ1):c.2120T>C (p.Ile707Thr)
|
rs147929290
|
0.00074
|
|
NM_000112.4(SLC26A2):c.1046T>A (p.Phe349Tyr)
|
rs114212275
|
0.00073
|
|
NM_000124.4(ERCC6):c.150G>A (p.Val50=)
|
rs80133923
|
0.00073
|
|
NM_000163.5(GHR):c.686G>A (p.Arg229His)
|
rs6177
|
0.00073
|
|
NM_000178.4(GSS):c.1158G>A (p.Leu386=)
|
rs141866304
|
0.00073
|
|
NM_000254.3(MTR):c.1141G>A (p.Ala381Thr)
|
rs144777709
|
0.00073
|
|
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His)
|
rs200641606
|
0.00073
|
|
NM_000260.4(MYO7A):c.3503+17G>A
|
rs369969967
|
0.00073
|
|
NM_000274.4(OAT):c.1224T>C (p.His408=)
|
rs201864147
|
0.00073
|
|
NM_000285.4(PEPD):c.34G>A (p.Gly12Arg)
|
rs201992066
|
0.00073
|
|
NM_000301.5(PLG):c.2045T>A (p.Ile682Asn)
|
rs147175166
|
0.00073
|
|
NM_000341.4(SLC3A1):c.1126G>A (p.Gly376Ser)
|
rs143068960
|
0.00073
|
|
NM_000384.3(APOB):c.4178C>T (p.Ala1393Val)
|
rs143282164
|
0.00073
|
|
NM_000532.5(PCCB):c.429+7G>A
|
rs201986472
|
0.00073
|
|
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)
|
rs137932199
|
0.00073
|
|
NM_000540.3(RYR1):c.5364T>G (p.Ala1788=)
|
rs200950362
|
0.00073
|
|
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met)
|
rs45517238
|
0.00073
|
|
NM_001005242.3(PKP2):c.1171-10T>C
|
rs200122872
|
0.00073
|
|
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn)
|
rs141274774
|
0.00073
|
|
NM_001082538.3(TCTN1):c.298G>A (p.Val100Met)
|
rs145478892
|
0.00073
|
|
NM_001083961.2(WDR62):c.303C>A (p.Asn101Lys)
|
rs139371621
|
0.00073
|
|
NM_001097577.3(ANG):c.208A>G (p.Ile70Val)
|
rs121909541
|
0.00073
|
|
NM_001126108.2(SLC12A3):c.2028C>T (p.His676=)
|
rs35070204
|
0.00073
|
|
NM_001128840.3(CACNA1D):c.5017G>A (p.Glu1673Lys)
|
rs147973409
|
0.00073
|
|
NM_001134665.3(TRMT10A):c.398G>A (p.Arg133Gln)
|
rs10007569
|
0.00073
|
|
NM_001160148.2(DDHD1):c.2408A>G (p.His803Arg)
|
rs144016130
|
0.00073
|
|
NM_001244008.2(KIF1A):c.1208-40G>A
|
rs375833834
|
0.00073
|
|
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg)
|
rs200594798
|
0.00073
|
|
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr)
|
rs72648227
|
0.00073
|
|
NM_001277313.2(FMN1):c.2044-1493G>T
|
rs201555719
|
0.00073
|
|
NM_001365999.1(SZT2):c.6343C>G (p.Pro2115Ala)
|
rs147309177
|
0.00073
|
|
NM_001367624.2(ZNF469):c.1483C>T (p.Pro495Ser)
|
rs202205643
|
0.00073
|
|
NM_001370259.2(MEN1):c.-22C>A
|
rs374749001
|
0.00073
|
|
NM_001371986.1(UNC80):c.3350G>C (p.Ser1117Thr)
|
rs78499613
|
0.00073
|
|
NM_001378414.1(HDAC4):c.681C>T (p.His227=)
|
rs148880349
|
0.00073
|
|
NM_001378615.1(CC2D2A):c.3869T>C (p.Val1290Ala)
|
rs200427832
|
0.00073
|
|
NM_001384474.1(LOXHD1):c.4244G>A (p.Arg1415Gln)
|
rs374728484
|
0.00073
|
|
NM_002184.4(IL6ST):c.898C>T (p.Arg300Cys)
|
rs141500365
|
0.00073
|
|
NM_002473.6(MYH9):c.2871C>T (p.Ser957=)
|
rs374840260
|
0.00073
|
|
NM_002936.6(RNASEH1):c.286A>T (p.Ser96Cys)
|
rs138292342
|
0.00073
|
|
NM_003060.4(SLC22A5):c.279G>C (p.Ser93=)
|
rs377734902
|
0.00073
|
|
NM_003119.4(SPG7):c.1324+10C>T
|
rs202070075
|
0.00073
|
|
NM_003119.4(SPG7):c.1933T>A (p.Ser645Thr)
|
rs2099104
|
0.00073
|
|
NM_003126.4(SPTA1):c.4564A>G (p.Thr1522Ala)
|
rs201910178
|
0.00073
|
|
NM_003482.4(KMT2D):c.1187C>G (p.Pro396Arg)
|
rs377452989
|
0.00073
|
|
NM_003640.5(ELP1):c.3347-15A>G
|
rs200154542
|
0.00073
|
|
NM_004006.3(DMD):c.1731A>T (p.Glu577Asp)
|
rs150199251
|
0.00073
|
|
NM_004387.4(NKX2-5):c.61G>C (p.Glu21Gln)
|
rs104893904
|
0.00073
|
|
NM_004431.5(EPHA2):c.2162G>A (p.Arg721Gln)
|
rs116506614
|
0.00073
|
|
NM_004614.5(TK2):c.122C>A (p.Pro41His)
|
rs201904720
|
0.00073
|
|
NM_004793.4(LONP1):c.1876G>A (p.Val626Met)
|
rs147307965
|
0.00073
|
|
NM_004947.5(DOCK3):c.5145+4C>T
|
rs138743227
|
0.00073
|
|
NM_004993.6(ATXN3):c.776-3C>T
|
rs201992162
|
0.00073
|
|
NM_005068.3(SIM1):c.279C>T (p.Phe93=)
|
rs145361258
|
0.00073
|
|
NM_005422.4(TECTA):c.2604G>T (p.Thr868=)
|
rs139509847
|
0.00073
|
|
NM_005957.5(MTHFR):c.1625A>C (p.Asn542Thr)
|
rs145641996
|
0.00073
|
|
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys)
|
rs113594027
|
0.00073
|
|
NM_006269.2(RP1):c.228C>T (p.Leu76=)
|
rs142600056
|
0.00073
|
|
NM_006516.4(SLC2A1):c.894C>T (p.Phe298=)
|
rs140825318
|
0.00073
|
|
NM_012062.5(DNM1L):c.1834A>T (p.Ile612Phe)
|
rs138133550
|
0.00073
|
|
NM_014714.4(IFT140):c.1667A>G (p.His556Arg)
|
rs137925718
|
0.00073
|
|
NM_014855.3(AP5Z1):c.1773C>T (p.Tyr591=)
|
rs372922535
|
0.00073
|
|
NM_015046.7(SETX):c.7870G>T (p.Asp2624Tyr)
|
rs141589525
|
0.00073
|
|
NM_016239.4(MYO15A):c.3196G>C (p.Ala1066Pro)
|
rs199537186
|
0.00073
|
|
NM_018192.4(P3H2):c.853C>T (p.His285Tyr)
|
rs56026146
|
0.00073
|
|
NM_018389.5(SLC35C1):c.748G>A (p.Gly250Arg)
|
rs148606857
|
0.00073
|
|
NM_018941.4(CLN8):c.513C>G (p.Pro171=)
|
rs376910635
|
0.00073
|
|
NM_020376.4(PNPLA2):c.964C>T (p.Leu322Phe)
|
rs137866968
|
0.00073
|
|
NM_020975.6(RET):c.1124T>A (p.Leu375Gln)
|
rs142338976
|
0.00073
|
|
NM_020987.5(ANK3):c.7469C>T (p.Pro2490Leu)
|
rs140741466
|
0.00073
|
|
NM_022455.5(NSD1):c.5520A>G (p.Glu1840=)
|
rs140815139
|
0.00073
|
|
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys)
|
rs73265454
|
0.00073
|
|
NM_025074.7(FRAS1):c.4634C>T (p.Pro1545Leu)
|
rs201675499
|
0.00073
|
|
NM_025114.4(CEP290):c.341G>A (p.Arg114His)
|
rs150296134
|
0.00073
|
|
NM_025243.4(SLC19A3):c.1145G>A (p.Ser382Asn)
|
rs145288025
|
0.00073
|
|
NM_052945.4(TNFRSF13C):c.436C>T (p.Pro146Ser)
|
rs151243201
|
0.00073
|
|
NM_080424.4(SP110):c.1706+4A>T
|
rs201034113
|
0.00073
|
|
NM_138691.3(TMC1):c.924C>G (p.Asp308Glu)
|
rs113342704
|
0.00073
|
|
NM_144508.5(KNL1):c.2268A>G (p.Ser756=)
|
rs202012571
|
0.00073
|
|
NM_145199.3(LIPT1):c.452G>A (p.Arg151Lys)
|
rs150683925
|
0.00073
|
|
NM_145200.5(CABP4):c.547G>C (p.Gly183Arg)
|
rs146764702
|
0.00073
|
|
NM_152383.5(DIS3L2):c.1447C>G (p.Arg483Gly)
|
rs186865544
|
0.00073
|
|
NM_152383.5(DIS3L2):c.263C>T (p.Pro88Leu)
|
rs202059499
|
0.00073
|
|
NM_152468.5(TMC8):c.1168G>A (p.Val390Ile)
|
rs150546646
|
0.00073
|
|
NM_152564.5(VPS13B):c.10240T>C (p.Leu3414=)
|
rs145279584
|
0.00073
|
|
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys)
|
rs149478021
|
0.00073
|
|
NM_152783.5(D2HGDH):c.1140+8G>A
|
rs369135156
|
0.00073
|
|
NM_172250.3(MMAA):c.966A>G (p.Pro322=)
|
rs150692463
|
0.00073
|
|
NM_178138.6(LHX3):c.920G>C (p.Arg307Pro)
|
rs182345541
|
0.00073
|
|
NM_201384.3(PLEC):c.12190G>A (p.Glu4064Lys)
|
rs200206105
|
0.00073
|
|
NM_201384.3(PLEC):c.2642C>T (p.Thr881Met)
|
rs200611519
|
0.00073
|
|
NM_201384.3(PLEC):c.4351G>A (p.Glu1451Lys)
|
rs868906137
|
0.00073
|
|
NM_206933.4(USH2A):c.2001C>T (p.His667=)
|
rs142870255
|
0.00073
|
|
NM_000260.4(MYO7A):c.5904C>T (p.His1968=)
|
rs41298753
|
0.00072
|
|
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg)
|
rs67254669
|
0.00072
|
|
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr)
|
rs138687850
|
0.00072
|
|
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)
|
rs201671325
|
0.00072
|
|
NM_000543.5(SMPD1):c.297C>G (p.Thr99=)
|
rs146630228
|
0.00072
|
|
NM_000718.4(CACNA1B):c.6724G>C (p.Asp2242His)
|
rs79400016
|
0.00072
|
|
NM_000844.4(GRM7):c.569G>A (p.Arg190Gln)
|
rs144324520
|
0.00072
|
|
NM_001004320.2(AGMO):c.1213C>T (p.Arg405Ter)
|
rs139309795
|
0.00072
|
|
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg)
|
rs200105499
|
0.00072
|
|
NM_001061.7(TBXAS1):c.621T>A (p.Asp207Glu)
|
rs143125111
|
0.00072
|
|
NM_001079855.2(GYG2):c.584C>T (p.Thr195Met)
|
rs143109649
|
0.00072
|
|
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His)
|
rs185596534
|
0.00072
|
|
NM_001148.6(ANK2):c.669+3A>G
|
rs370475820
|
0.00072
|
|
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu)
|
rs139631202
|
0.00072
|
|
NM_001164277.2(SLC37A4):c.785+6A>T
|
rs369358436
|
0.00072
|
|
NM_001164508.2(NEB):c.22005G>A (p.Thr7335=)
|
rs201400523
|
0.00072
|
|
NM_001177316.2(SLC34A3):c.1484G>C (p.Gly495Ala)
|
rs140869490
|
0.00072
|
|
NM_001267550.2(TTN):c.38902C>T (p.Pro12968Ser)
|
rs192528655
|
0.00072
|
|
NM_001367624.2(ZNF469):c.9919A>G (p.Thr3307Ala)
|
rs273585627
|
0.00072
|
|
NM_001369268.1(ACAN):c.2024G>A (p.Arg675Gln)
|
rs35102652
|
0.00072
|
|
NM_001378609.3(OTOGL):c.2551G>A (p.Asp851Asn)
|
rs112430701
|
0.00072
|
|
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp)
|
rs138081804
|
0.00072
|
|
NM_002633.3(PGM1):c.572C>T (p.Ser191Leu)
|
rs147971989
|
0.00072
|
|
NM_003238.6(TGFB2):c.303G>A (p.Lys101=)
|
rs147052890
|
0.00072
|
|
NM_003835.4(RGS9):c.1658T>C (p.Val553Ala)
|
rs201026246
|
0.00072
|
|
NM_004369.4(COL6A3):c.7849G>A (p.Asp2617Asn)
|
rs138285547
|
0.00072
|
|
NM_004385.5(VCAN):c.6767T>C (p.Leu2256Pro)
|
rs146630369
|
0.00072
|
|
NM_004937.3(CTNS):c.695G>A (p.Arg232His)
|
rs142641674
|
0.00072
|
|
NM_005045.4(RELN):c.1035A>G (p.Leu345=)
|
rs113998363
|
0.00072
|
|
NM_006642.5(SDCCAG8):c.925G>A (p.Val309Ile)
|
rs149359674
|
0.00072
|
|
NM_006767.4(LZTR1):c.1990G>A (p.Ala664Thr)
|
rs140874089
|
0.00072
|
|
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=)
|
rs149185385
|
0.00072
|
|
NM_014336.5(AIPL1):c.780C>T (p.His260=)
|
rs145304845
|
0.00072
|
|
NM_014974.3(DIP2C):c.698C>T (p.Ala233Val)
|
rs77328768
|
0.00072
|
|
NM_020433.5(JPH2):c.128A>G (p.Asn43Ser)
|
rs138992849
|
0.00072
|
|
NM_020779.4(WDR35):c.3467T>G (p.Ile1156Arg)
|
rs147325795
|
0.00072
|
|
NM_021942.6(TRAPPC11):c.282A>C (p.Pro94=)
|
rs148105529
|
0.00072
|
|
NM_022081.6(HPS4):c.*5C>T
|
rs373741660
|
0.00072
|
|
NM_024685.4(BBS10):c.765G>A (p.Met255Ile)
|
rs139658279
|
0.00072
|
|
NM_031471.6(FERMT3):c.615C>T (p.Pro205=)
|
rs142774418
|
0.00072
|
|
NM_032447.5(FBN3):c.5557C>T (p.Arg1853Trp)
|
rs146543008
|
0.00072
|
|
NM_080860.4(RSPH1):c.907A>G (p.Arg303Gly)
|
rs150629342
|
0.00072
|
|
NM_152383.5(DIS3L2):c.410A>G (p.Tyr137Cys)
|
rs201733073
|
0.00072
|
|
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=)
|
rs139436386
|
0.00072
|
|
NM_152730.6(TBC1D32):c.695G>A (p.Arg232Gln)
|
rs181574808
|
0.00072
|
|
NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg)
|
rs201667254
|
0.00072
|
|
NM_000038.6(APC):c.1604C>T (p.Ser535Phe)
|
rs75870842
|
0.00071
|
|
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)
|
rs2235006
|
0.00071
|
|
NM_000236.3(LIPC):c.1226A>C (p.Asp409Ala)
|
rs142036980
|
0.00071
|
|
NM_000243.3(MEFV):c.277+6C>T
|
rs7199464
|
0.00071
|
|
NM_000282.4(PCCA):c.1896A>G (p.Thr632=)
|
rs61760965
|
0.00071
|
|
NM_000289.6(PFKM):c.453G>A (p.Thr151=)
|
rs144370737
|
0.00071
|
|
NM_000350.3(ABCA4):c.4342G>A (p.Gly1448Arg)
|
rs142506651
|
0.00071
|
|
NM_000384.3(APOB):c.3740A>G (p.Tyr1247Cys)
|
rs61741164
|
0.00071
|
|
NM_000426.4(LAMA2):c.1400A>G (p.Lys467Arg)
|
rs138162760
|
0.00071
|
|
NM_000629.3(IFNAR1):c.115G>A (p.Asp39Asn)
|
rs148989381
|
0.00071
|
|
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser)
|
rs116711766
|
0.00071
|
|
NM_001018115.3(FANCD2):c.1777C>T (p.Pro593Ser)
|
rs147523071
|
0.00071
|
|
NM_001035.3(RYR2):c.14484G>T (p.Gly4828=)
|
rs370996795
|
0.00071
|
|
NM_001039876.3(SYNE4):c.317A>C (p.Gln106Pro)
|
rs200994810
|
0.00071
|
|
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=)
|
rs147143094
|
0.00071
|
|
NM_001080449.3(DNA2):c.68C>T (p.Ala23Val)
|
rs200467869
|
0.00071
|
|
NM_001083961.2(WDR62):c.1769-7C>T
|
rs137919897
|
0.00071
|
|
NM_001089.3(ABCA3):c.2675G>A (p.Arg892His)
|
rs142687030
|
0.00071
|
|
NM_001089.3(ABCA3):c.3279G>A (p.Glu1093=)
|
rs148535912
|
0.00071
|
|
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=)
|
rs200048692
|
0.00071
|
|
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr)
|
rs142906652
|
0.00071
|
|
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp)
|
rs148541407
|
0.00071
|
|
NM_001145809.2(MYH14):c.394G>A (p.Gly132Ser)
|
rs199910006
|
0.00071
|
|
NM_001164508.2(NEB):c.3184A>G (p.Lys1062Glu)
|
rs192117840
|
0.00071
|
|
NM_001164508.2(NEB):c.3989A>G (p.Tyr1330Cys)
|
rs189553632
|
0.00071
|
|
NM_001166108.2(PALLD):c.539C>T (p.Thr180Ile)
|
rs146387060
|
0.00071
|
|
NM_001256317.3(TMPRSS3):c.1042G>A (p.Asp348Asn)
|
rs111033261
|
0.00071
|
|
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val)
|
rs55725279
|
0.00071
|
|
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr)
|
rs188878341
|
0.00071
|
|
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro)
|
rs56399205
|
0.00071
|
|
NM_001292063.2(OTOG):c.2249G>A (p.Arg750His)
|
rs112634925
|
0.00071
|
|
NM_001374385.1(ATP8B1):c.3725C>G (p.Thr1242Ser)
|
rs139012426
|
0.00071
|
|
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr)
|
rs201144431
|
0.00071
|
|
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val)
|
rs78102263
|
0.00071
|
|
NM_001379500.1(COL18A1):c.2890C>T (p.Arg964Trp)
|
rs371106773
|
0.00071
|
|
NM_001382391.1(CSPP1):c.104A>G (p.Lys35Arg)
|
rs200158932
|
0.00071
|
|
NM_001384474.1(LOXHD1):c.1815C>T (p.Asp605=)
|
rs201388780
|
0.00071
|
|
NM_001457.4(FLNB):c.3288C>T (p.Ser1096=)
|
rs77934864
|
0.00071
|
|
NM_002292.4(LAMB2):c.703C>T (p.Arg235Trp)
|
rs144133177
|
0.00071
|
|
NM_002303.6(LEPR):c.2260G>A (p.Val754Met)
|
rs150936702
|
0.00071
|
|
NM_002693.3(POLG):c.578G>A (p.Arg193Gln)
|
rs3176162
|
0.00071
|
|
NM_003742.4(ABCB11):c.3512T>C (p.Met1171Thr)
|
rs183621659
|
0.00071
|
|
NM_004006.3(DMD):c.4093C>T (p.Leu1365Phe)
|
rs148781346
|
0.00071
|
|
NM_004006.3(DMD):c.5476G>C (p.Glu1826Gln)
|
rs140913030
|
0.00071
|
|
NM_005245.4(FAT1):c.7130C>T (p.Thr2377Met)
|
rs201363601
|
0.00071
|
|
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)
|
rs149755320
|
0.00071
|
|
NM_006060.6(IKZF1):c.157G>A (p.Val53Met)
|
rs369417059
|
0.00071
|
|
NM_006214.4(PHYH):c.568G>A (p.Val190Ile)
|
rs146190978
|
0.00071
|
|
NM_006231.4(POLE):c.6004+11A>G
|
rs201591857
|
0.00071
|
|
NM_007199.3(IRAK3):c.1461del (p.Asn487fs)
|
rs776951445
|
0.00071
|
|
NM_007254.4(PNKP):c.501G>A (p.Val167=)
|
rs142143566
|
0.00071
|
|
NM_007317.3(KIF22):c.1048C>T (p.Arg350Cys)
|
rs149860938
|
0.00071
|
|
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr)
|
rs149638449
|
0.00071
|
|
NM_014633.5(CTR9):c.3211G>A (p.Gly1071Ser)
|
rs35766432
|
0.00071
|
|
NM_014639.4(SKIC3):c.1938C>T (p.Gly646=)
|
rs149655074
|
0.00071
|
|
NM_014822.4(SEC24D):c.2135A>C (p.Asn712Thr)
|
rs146773641
|
0.00071
|
|
NM_014908.4(DOLK):c.1314C>T (p.Leu438=)
|
rs148118523
|
0.00071
|
|
NM_015166.4(MLC1):c.627C>T (p.Ala209=)
|
rs138153307
|
0.00071
|
|
NM_018136.5(ASPM):c.3189A>G (p.Leu1063=)
|
rs146858888
|
0.00071
|
|
NM_018249.6(CDK5RAP2):c.5201A>G (p.Tyr1734Cys)
|
rs150994426
|
0.00071
|
|
NM_018451.5(CENPJ):c.3922G>A (p.Val1308Ile)
|
rs140564566
|
0.00071
|
|
NM_020247.5(COQ8A):c.1378A>G (p.Ser460Gly)
|
rs149364914
|
0.00071
|
|
NM_024513.4(FYCO1):c.1248G>A (p.Lys416=)
|
rs149643762
|
0.00071
|
|
NM_024740.2(ALG9):c.1762G>T (p.Val588Phe)
|
rs150225347
|
0.00071
|
|
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser)
|
rs149925563
|
0.00071
|
|
NM_025074.7(FRAS1):c.9296G>A (p.Arg3099Gln)
|
rs149692526
|
0.00071
|
|
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser)
|
rs147680216
|
0.00071
|
|
NM_057176.3(BSND):c.715C>T (p.Gln239Ter)
|
rs147394986
|
0.00071
|
|
NM_133379.5(TTN):c.11075G>C (p.Ser3692Thr)
|
rs147314430
|
0.00071
|
|
NM_133379.5(TTN):c.16613G>A (p.Arg5538His)
|
rs145932311
|
0.00071
|
|
NM_144596.4(TTC8):c.1231G>A (p.Gly411Arg)
|
rs139773124
|
0.00071
|
|
NM_144997.7(FLCN):c.959G>A (p.Arg320Gln)
|
rs143483053
|
0.00071
|
|
NM_152783.5(D2HGDH):c.1387G>A (p.Glu463Lys)
|
rs143460342
|
0.00071
|
|
NM_153614.4(DNAJB13):c.439T>A (p.Ser147Thr)
|
rs148650935
|
0.00071
|
|
NM_182961.4(SYNE1):c.7647C>T (p.His2549=)
|
rs113163375
|
0.00071
|
|
NM_198428.3(BBS9):c.2214C>T (p.Ile738=)
|
rs148536971
|
0.00071
|
|
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)
|
rs146824138
|
0.00071
|
|
NM_213653.4(HJV):c.510C>T (p.Phe170=)
|
rs139281553
|
0.00071
|
|
NM_000036.3(AMPD1):c.1721G>A (p.Gly574Glu)
|
rs150645738
|
0.00070
|
|
NM_000091.5(COL4A3):c.274G>C (p.Val92Leu)
|
rs200873401
|
0.00070
|
|
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)
|
rs61746008
|
0.00070
|
|
NM_000153.4(GALC):c.-67T>G
|
rs571945132
|
0.00070
|
|
NM_000183.3(HADHB):c.246A>G (p.Ala82=)
|
rs151302743
|
0.00070
|
|
NM_000274.4(OAT):c.48C>T (p.Arg16=)
|
rs143526711
|
0.00070
|
|
NM_000275.3(OCA2):c.1857C>T (p.Asp619=)
|
rs7164127
|
0.00070
|
|
NM_000334.4(SCN4A):c.4508A>G (p.Asn1503Ser)
|
rs114900922
|
0.00070
|
|
NM_000543.5(SMPD1):c.1598C>T (p.Pro533Leu)
|
rs199915216
|
0.00070
|
|
NM_000744.7(CHRNA4):c.1441G>A (p.Gly481Ser)
|
rs111969225
|
0.00070
|
|
NM_000817.3(GAD1):c.1611+5G>A
|
rs147201199
|
0.00070
|
|
NM_001005242.3(PKP2):c.1379-2067G>A
|
rs138538072
|
0.00070
|
|
NM_001042475.3(CEP85L):c.1020+17280C>A
|
rs551982604
|
0.00070
|
|
NM_001083961.2(WDR62):c.922A>G (p.Ile308Val)
|
rs146229976
|
0.00070
|
|
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg)
|
rs121434525
|
0.00070
|
|
NM_001114134.2(EPB42):c.10+60C>T
|
rs144428415
|
0.00070
|
|
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile)
|
rs201836062
|
0.00070
|
|
NM_001128228.3(TPRN):c.2023G>A (p.Ala675Thr)
|
rs139520402
|
0.00070
|
|
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)
|
rs121917910
|
0.00070
|
|
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile)
|
rs201717871
|
0.00070
|
|
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr)
|
rs72648263
|
0.00070
|
|
NM_001277115.2(DNAH11):c.695C>T (p.Pro232Leu)
|
rs200454446
|
0.00070
|
|
NM_001292063.2(OTOG):c.3229A>G (p.Ile1077Val)
|
rs56359117
|
0.00070
|
|
NM_001351132.2(PEX5):c.1178G>A (p.Arg393Gln)
|
rs145690714
|
0.00070
|
|
NM_001369.3(DNAH5):c.10367C>T (p.Ala3456Val)
|
rs149956015
|
0.00070
|
|
NM_001453.3(FOXC1):c.597C>G (p.Arg199=)
|
rs529227054
|
0.00070
|
|
NM_001701.4(BAAT):c.685G>A (p.Val229Ile)
|
rs141722672
|
0.00070
|
|
NM_001813.3(CENPE):c.6437A>G (p.Tyr2146Cys)
|
rs141813170
|
0.00070
|
|
NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=)
|
rs143651470
|
0.00070
|
|
NM_002471.4(MYH6):c.3980C>T (p.Ala1327Val)
|
rs148558068
|
0.00070
|
|
NM_002906.4(RDX):c.1468G>A (p.Asp490Asn)
|
rs34471100
|
0.00070
|
|
NM_003896.4(ST3GAL5):c.1212G>A (p.Glu404=)
|
rs148195895
|
0.00070
|
|
NM_004525.3(LRP2):c.1176C>T (p.Gly392=)
|
rs369145798
|
0.00070
|
|
NM_004568.6(SERPINB6):c.750C>T (p.Tyr250=)
|
rs35617833
|
0.00070
|
|
NM_004984.4(KIF5A):c.1419G>A (p.Leu473=)
|
rs139091551
|
0.00070
|
|
NM_004990.4(MARS1):c.2671C>T (p.Pro891Ser)
|
rs35843015
|
0.00070
|
|
NM_006383.4(CIB2):c.523A>C (p.Lys175Gln)
|
rs200546031
|
0.00070
|
|
NM_006904.7(PRKDC):c.4009G>A (p.Val1337Ile)
|
rs56080897
|
0.00070
|
|
NM_007194.4(CHEK2):c.320-5T>A
|
rs121908700
|
0.00070
|
|
NM_012275.3(IL36RN):c.363G>A (p.Leu121=)
|
rs151274071
|
0.00070
|
|
NM_014363.6(SACS):c.10668G>A (p.Leu3556=)
|
rs139517699
|
0.00070
|
|
NM_019066.5(MAGEL2):c.959C>A (p.Ala320Asp)
|
rs541606785
|
0.00070
|
|
NM_019098.5(CNGB3):c.913G>A (p.Ala305Thr)
|
rs144637286
|
0.00070
|
|
NM_020320.5(RARS2):c.456T>C (p.Asn152=)
|
rs141374913
|
0.00070
|
|
NM_020451.3(SELENON):c.1623C>T (p.Asn541=)
|
rs199911454
|
0.00070
|
|
NM_021956.5(GRIK2):c.890C>G (p.Ser297Trp)
|
rs61996330
|
0.00070
|
|
NM_022124.6(CDH23):c.5667C>T (p.Asn1889=)
|
rs375358318
|
0.00070
|
|
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys)
|
rs144799937
|
0.00070
|
|
NM_024513.4(FYCO1):c.3903A>G (p.Thr1301=)
|
rs144525738
|
0.00070
|
|
NM_025074.7(FRAS1):c.1783G>A (p.Gly595Ser)
|
rs149843493
|
0.00070
|
|
NM_025103.4(IFT74):c.1623+7A>C
|
rs191860894
|
0.00070
|
|
NM_030665.4(RAI1):c.4039A>G (p.Lys1347Glu)
|
rs34521483
|
0.00070
|
|
NM_032387.5(WNK4):c.2476G>A (p.Gly826Ser)
|
rs190384194
|
0.00070
|
|
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp)
|
rs138130914
|
0.00070
|
|
NM_052872.4(IL17F):c.254+1G>T
|
rs117796773
|
0.00070
|
|
NM_133642.5(LARGE1):c.1962G>A (p.Glu654=)
|
rs141089495
|
0.00070
|
|
NM_138694.4(PKHD1):c.1925C>T (p.Thr642Ile)
|
rs138968608
|
0.00070
|
|
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu)
|
rs150046042
|
0.00070
|
|
NM_152564.5(VPS13B):c.11495+6A>G
|
rs116546060
|
0.00070
|
|
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser)
|
rs142248228
|
0.00070
|
|
NM_152743.4(BRAT1):c.826G>A (p.Asp276Asn)
|
rs146546197
|
0.00070
|
|
NM_173560.4(RFX6):c.2553G>T (p.Gln851His)
|
rs145117989
|
0.00070
|
|
NM_177438.3(DICER1):c.59C>T (p.Ala20Val)
|
rs147660793
|
0.00070
|
|
NM_178138.6(LHX3):c.929G>C (p.Arg310Pro)
|
rs201591640
|
0.00070
|
|
NM_182914.3(SYNE2):c.12293C>A (p.Ala4098Asp)
|
rs142169651
|
0.00070
|
|
NM_182961.4(SYNE1):c.22617C>T (p.Leu7539=)
|
rs111367233
|
0.00070
|
|
NM_000029.4(AGT):c.842A>G (p.Tyr281Cys)
|
rs56073403
|
0.00069
|
|
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe)
|
rs55639415
|
0.00069
|
|
NM_000079.4(CHRNA1):c.224G>A (p.Arg75His)
|
rs147488907
|
0.00069
|
|
NM_000213.5(ITGB4):c.5243G>A (p.Arg1748His)
|
rs151053969
|
0.00069
|
|
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln)
|
rs147809756
|
0.00069
|
|
NM_000277.3(PAH):c.30C>G (p.Gly10=)
|
rs1801145
|
0.00069
|
|
NM_000334.4(SCN4A):c.1576G>A (p.Gly526Arg)
|
rs181292216
|
0.00069
|
|
NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr)
|
rs148938083
|
0.00069
|
|
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=)
|
rs111033193
|
0.00069
|
|
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=)
|
rs140963147
|
0.00069
|
|
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu)
|
rs139717960
|
0.00069
|
|
NM_000637.5(GSR):c.694G>A (p.Gly232Ser)
|
rs8190976
|
0.00069
|
|
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=)
|
rs146839867
|
0.00069
|
|
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr)
|
rs201500134
|
0.00069
|
|
NM_001040436.3(YARS2):c.*360A>G
|
rs567955032
|
0.00069
|
|
NM_001082971.2(DDC):c.715A>T (p.Met239Leu)
|
rs11575376
|
0.00069
|
|
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser)
|
rs56102764
|
0.00069
|
|
NM_001142864.4(PIEZO1):c.5773C>T (p.Arg1925Trp)
|
rs201442593
|
0.00069
|
|
NM_001164508.2(NEB):c.20128G>A (p.Val6710Ile)
|
rs199890298
|
0.00069
|
|
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=)
|
rs184319249
|
0.00069
|
|
NM_001267550.2(TTN):c.76019T>A (p.Val25340Asp)
|
rs200287703
|
0.00069
|
|
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His)
|
rs72648206
|
0.00069
|
|
NM_001277115.2(DNAH11):c.11277C>G (p.Ile3759Met)
|
rs202148932
|
0.00069
|
|
NM_001277115.2(DNAH11):c.2166A>G (p.Pro722=)
|
rs191266255
|
0.00069
|
|
NM_001277115.2(DNAH11):c.9939G>A (p.Val3313=)
|
rs200349268
|
0.00069
|
|
NM_001278293.3(ARL6):c.442T>G (p.Cys148Gly)
|
rs148745414
|
0.00069
|
|
NM_001330078.2(NRXN1):c.3201C>T (p.Ser1067=)
|
rs75275592
|
0.00069
|
|
NM_001371623.1(TCOF1):c.3620A>G (p.Tyr1207Cys)
|
rs146226591
|
0.00069
|
|
NM_001377.3(DYNC2H1):c.3170G>A (p.Arg1057His)
|
rs191381310
|
0.00069
|
|
NM_001384474.1(LOXHD1):c.5853G>A (p.Lys1951=)
|
rs201366522
|
0.00069
|
|
NM_001486.4(GCKR):c.230A>G (p.Glu77Gly)
|
rs8179206
|
0.00069
|
|
NM_001558.4(IL10RA):c.1235G>A (p.Arg412Gln)
|
rs117423374
|
0.00069
|
|
NM_001852.4(COL9A2):c.1621G>A (p.Ala541Thr)
|
rs200325312
|
0.00069
|
|
NM_001966.4(EHHADH):c.1814A>G (p.Lys605Arg)
|
rs140844253
|
0.00069
|
|
NM_002303.6(LEPR):c.3479T>C (p.Met1160Thr)
|
rs145685060
|
0.00069
|
|
NM_002386.4(MC1R):c.247T>C (p.Ser83Pro)
|
rs34474212
|
0.00069
|
|
NM_003659.4(AGPS):c.64G>A (p.Ala22Thr)
|
rs759572190
|
0.00069
|
|
NM_004006.3(DMD):c.10262+1G>A
|
rs145603325
|
0.00069
|
|
NM_004320.6(ATP2A1):c.733G>A (p.Asp245Asn)
|
rs150721350
|
0.00069
|
|
NM_004407.4(DMP1):c.943G>C (p.Gly315Arg)
|
rs149603030
|
0.00069
|
|
NM_004525.3(LRP2):c.6938C>T (p.Pro2313Leu)
|
rs73035708
|
0.00069
|
|
NM_004999.4(MYO6):c.3529C>T (p.Arg1177Cys)
|
rs146419641
|
0.00069
|
|
NM_005149.3(TBX19):c.204-3T>C
|
rs200043223
|
0.00069
|
|
NM_006017.3(PROM1):c.1469G>A (p.Ser490Asn)
|
rs201027172
|
0.00069
|
|
NM_006565.4(CTCF):c.1986C>G (p.Pro662=)
|
rs148681672
|
0.00069
|
|
NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=)
|
rs148818431
|
0.00069
|
|
NM_006796.3(AFG3L2):c.793G>A (p.Ala265Thr)
|
rs149605021
|
0.00069
|
|
NM_012073.5(CCT5):c.166+8del
|
rs773556943
|
0.00069
|
|
NM_014339.7(IL17RA):c.1232C>T (p.Ala411Val)
|
rs151166583
|
0.00069
|
|
NM_015102.5(NPHP4):c.3851G>A (p.Arg1284His)
|
rs61739637
|
0.00069
|
|
NM_017721.5(CC2D1A):c.2048G>A (p.Arg683Gln)
|
rs201251295
|
0.00069
|
|
NM_020754.4(ARHGAP31):c.452G>A (p.Arg151Gln)
|
rs201519981
|
0.00069
|
|
NM_022124.6(CDH23):c.6429G>A (p.Thr2143=)
|
rs142788731
|
0.00069
|
|
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys)
|
rs145619906
|
0.00069
|
|
NM_025265.4(TSEN2):c.376C>T (p.Arg126Cys)
|
rs151133206
|
0.00069
|
|
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=)
|
rs4987050
|
0.00069
|
|
NM_032444.4(SLX4):c.4261A>T (p.Ile1421Phe)
|
rs141567438
|
0.00069
|
|
NM_032531.4(KIRREL3):c.396C>T (p.Ala132=)
|
rs35152573
|
0.00069
|
|
NM_145059.3(FCSK):c.1124C>G (p.Pro375Arg)
|
rs200044033
|
0.00069
|
|
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser)
|
rs142674934
|
0.00069
|
|
NM_201631.4(TGM5):c.850G>A (p.Val284Ile)
|
rs144575810
|
0.00069
|
|
NM_206933.4(USH2A):c.5265C>T (p.Phe1755=)
|
rs147371835
|
0.00069
|
|
NM_206937.2(LIG4):c.285G>A (p.Glu95=)
|
rs150146196
|
0.00069
|
|
NM_000245.4(MET):c.1039G>A (p.Ala347Thr)
|
rs200074800
|
0.00068
|
|
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile)
|
rs45620037
|
0.00068
|
|
NM_000410.4(HFE):c.1006+14A>G
|
rs201262562
|
0.00068
|
|
NM_000443.4(ABCB4):c.696C>T (p.Ala232=)
|
rs8187791
|
0.00068
|
|
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)
|
rs121909034
|
0.00068
|
|
NM_000512.5(GALNS):c.858G>A (p.Thr286=)
|
rs140299014
|
0.00068
|
|
NM_000787.4(DBH):c.1215C>T (p.His405=)
|
rs144219953
|
0.00068
|
|
NM_001017995.3(SH3PXD2B):c.785+4C>G
|
rs369555721
|
0.00068
|
|
NM_001039876.3(SYNE4):c.243T>C (p.Ser81=)
|
rs149158221
|
0.00068
|
|
NM_001080449.3(DNA2):c.1796G>A (p.Arg599His)
|
rs201999986
|
0.00068
|
|
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser)
|
rs77029288
|
0.00068
|
|
NM_001148.6(ANK2):c.4456G>C (p.Val1486Leu)
|
rs149678604
|
0.00068
|
|
NM_001191061.2(SLC25A22):c.140C>T (p.Thr47Met)
|
rs142220309
|
0.00068
|
|
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His)
|
rs200324356
|
0.00068
|
|
NM_001243133.2(NLRP3):c.3048A>C (p.Leu1016Phe)
|
rs143548979
|
0.00068
|
|
NM_001271938.2(MEGF8):c.2357C>G (p.Pro786Arg)
|
rs114954140
|
0.00068
|
|
NM_001277058.2(ERCC6):c.2027T>G (p.Val676Gly)
|
rs139949788
|
0.00068
|
|
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu)
|
rs2234704
|
0.00068
|
|
NM_001363118.2(SLC52A2):c.1039G>A (p.Val347Met)
|
rs145502954
|
0.00068
|
|
NM_001365999.1(SZT2):c.6977G>A (p.Arg2326Gln)
|
rs146140125
|
0.00068
|
|
NM_001371279.1(REEP1):c.837G>T (p.Ser279=)
|
rs377637314
|
0.00068
|
|
NM_001378454.1(ALMS1):c.3290A>G (p.Tyr1097Cys)
|
rs201816596
|
0.00068
|
|
NM_001378609.3(OTOGL):c.3742C>G (p.His1248Asp)
|
rs201328043
|
0.00068
|
|
NM_001379500.1(COL18A1):c.107-12210C>G
|
rs201773944
|
0.00068
|
|
NM_001458.5(FLNC):c.4022G>A (p.Arg1341Gln)
|
rs149641783
|
0.00068
|
|
NM_001458.5(FLNC):c.6808G>A (p.Glu2270Lys)
|
rs202223616
|
0.00068
|
|
NM_001698.3(AUH):c.140C>T (p.Pro47Leu)
|
rs200564356
|
0.00068
|
|
NM_001845.6(COL4A1):c.2542C>G (p.Gln848Glu)
|
rs144207910
|
0.00068
|
|
NM_001849.4(COL6A2):c.1761C>T (p.Pro587=)
|
rs146311719
|
0.00068
|
|
NM_001868.4(CPA1):c.281A>G (p.Gln94Arg)
|
rs41274176
|
0.00068
|
|
NM_001987.5(ETV6):c.380G>A (p.Arg127Gln)
|
rs140357643
|
0.00068
|
|
NM_002292.4(LAMB2):c.3582C>T (p.Phe1194=)
|
rs138540017
|
0.00068
|
|
NM_002470.4(MYH3):c.875C>G (p.Ser292Cys)
|
rs139480342
|
0.00068
|
|
NM_003126.4(SPTA1):c.4862T>A (p.Phe1621Tyr)
|
rs374298000
|
0.00068
|
|
NM_004990.4(MARS1):c.2391A>C (p.Thr797=)
|
rs140573721
|
0.00068
|
|
NM_005002.5(NDUFA9):c.722A>G (p.Tyr241Cys)
|
rs139012735
|
0.00068
|
|
NM_005199.5(CHRNG):c.663G>A (p.Ala221=)
|
rs150556220
|
0.00068
|
|
NM_005477.3(HCN4):c.3577G>C (p.Glu1193Gln)
|
rs200507617
|
0.00068
|
|
NM_005787.6(ALG3):c.1084G>A (p.Val362Ile)
|
rs186946267
|
0.00068
|
|
NM_005957.5(MTHFR):c.667G>A (p.Asp223Asn)
|
rs150847674
|
0.00068
|
|
NM_006031.6(PCNT):c.4140G>A (p.Ala1380=)
|
rs372175239
|
0.00068
|
|
NM_006059.4(LAMC3):c.3674T>C (p.Val1225Ala)
|
rs138481447
|
0.00068
|
|
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln)
|
rs149462407
|
0.00068
|
|
NM_006267.5(RANBP2):c.3226T>G (p.Leu1076Val)
|
rs142768885
|
0.00068
|
|
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=)
|
rs78388808
|
0.00068
|
|
NM_006642.5(SDCCAG8):c.1474-6C>T
|
rs376414138
|
0.00068
|
|
NM_012073.5(CCT5):c.954C>T (p.Asn318=)
|
rs150870419
|
0.00068
|
|
NM_014028.4(OSTM1):c.134A>G (p.Asp45Gly)
|
rs202093691
|
0.00068
|
|
NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys)
|
rs116606479
|
0.00068
|
|
NM_015662.3(IFT172):c.899G>A (p.Arg300Gln)
|
rs146332658
|
0.00068
|
|
NM_017837.4(PIGV):c.1369C>T (p.Leu457Phe)
|
rs143676075
|
0.00068
|
|
NM_018006.5(TRMU):c.900G>T (p.Leu300=)
|
rs113846383
|
0.00068
|
|
NM_018139.3(DNAAF2):c.731C>A (p.Ala244Glu)
|
rs112700048
|
0.00068
|
|
NM_018960.6(GNMT):c.469C>T (p.Arg157Trp)
|
rs142613217
|
0.00068
|
|
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val)
|
rs144182725
|
0.00068
|
|
NM_020376.4(PNPLA2):c.369C>T (p.Asp123=)
|
rs142174851
|
0.00068
|
|
NM_021098.3(CACNA1H):c.3792G>T (p.Gln1264His)
|
rs200228767
|
0.00068
|
|
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp)
|
rs376271562
|
0.00068
|
|
NM_022356.4(P3H1):c.2147G>C (p.Gly716Ala)
|
rs573577299
|
0.00068
|
|
NM_025132.4(WDR19):c.2671C>T (p.His891Tyr)
|
rs200266424
|
0.00068
|
|
NM_031372.4(HNRNPDL):c.113T>C (p.Leu38Pro)
|
rs373042980
|
0.00068
|
|
NM_031885.5(BBS2):c.1523A>C (p.Gln508Pro)
|
rs115328064
|
0.00068
|
|
NM_058246.4(DNAJB6):c.962C>T (p.Ser321Leu)
|
rs142974468
|
0.00068
|
|
NM_080680.3(COL11A2):c.2682G>A (p.Pro894=)
|
rs113067047
|
0.00068
|
|
NM_130837.3(OPA1):c.254G>A (p.Arg85His)
|
rs35630194
|
0.00068
|
|
NM_138413.4(HOGA1):c.708G>T (p.Val236=)
|
rs61731946
|
0.00068
|
|
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg)
|
rs143205296
|
0.00068
|
|
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)
|
rs140601319
|
0.00068
|
|
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe)
|
rs145208175
|
0.00068
|
|
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu)
|
rs145890213
|
0.00068
|
|
NM_153006.3(NAGS):c.1302C>T (p.Pro434=)
|
rs150004962
|
0.00068
|
|
NM_153240.5(NPHP3):c.2442T>C (p.Tyr814=)
|
rs111683745
|
0.00068
|
|
NM_153603.4(COG7):c.1455C>T (p.Phe485=)
|
rs116153163
|
0.00068
|
|
NM_153603.4(COG7):c.75C>G (p.Ser25=)
|
rs149481813
|
0.00068
|
|
NM_170784.3(MKKS):c.67A>G (p.Arg23Gly)
|
rs147545395
|
0.00068
|
|
NM_182961.4(SYNE1):c.12255G>A (p.Gln4085=)
|
rs145401144
|
0.00068
|
|
NM_183050.4(BCKDHB):c.86C>T (p.Ala29Val)
|
rs9448884
|
0.00068
|
|
NM_206933.4(USH2A):c.5802G>A (p.Ser1934=)
|
rs149776188
|
0.00068
|
|
NM_000037.4(ANK1):c.1153C>T (p.Arg385Cys)
|
rs142626656
|
0.00067
|
|
NM_000037.4(ANK1):c.1404+15C>T
|
rs201598401
|
0.00067
|
|
NM_000071.3(CBS):c.829-13G>A
|
rs201106576
|
0.00067
|
|
NM_000093.5(COL5A1):c.3292G>A (p.Ala1098Thr)
|
rs772521985
|
0.00067
|
|
NM_000098.3(CPT2):c.1634A>C (p.Glu545Ala)
|
rs17848485
|
0.00067
|
|
NM_000137.4(FAH):c.553+10C>T
|
rs201051426
|
0.00067
|
|
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala)
|
rs63751005
|
0.00067
|
|
NM_000318.3(PEX2):c.722G>T (p.Gly241Val)
|
rs150734057
|
0.00067
|
|
NM_000426.4(LAMA2):c.946G>A (p.Asp316Asn)
|
rs141340479
|
0.00067
|
|
NM_000478.6(ALPL):c.612C>T (p.Ile204=)
|
rs141448778
|
0.00067
|
|
NM_000551.4(VHL):c.183C>G (p.Pro61=)
|
rs63650860
|
0.00067
|
|
NM_000553.6(WRN):c.1835C>G (p.Ser612Cys)
|
rs11574250
|
0.00067
|
|
NM_000687.4(AHCY):c.1008C>T (p.Ile336=)
|
rs139344907
|
0.00067
|
|
NM_000875.5(IGF1R):c.4009C>T (p.Arg1337Cys)
|
rs141802822
|
0.00067
|
|
NM_001017420.3(ESCO2):c.1031A>C (p.Gln344Pro)
|
rs143346057
|
0.00067
|
|
NM_001038.6(SCNN1A):c.614G>A (p.Ser205Asn)
|
rs147866964
|
0.00067
|
|
NM_001039958.2(MESP2):c.*9G>A
|
rs187680280
|
0.00067
|
|
NM_001080476.3(GRXCR1):c.785G>A (p.Arg262Gln)
|
rs146696590
|
0.00067
|
|
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys)
|
rs146868519
|
0.00067
|
|
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly)
|
rs145063086
|
0.00067
|
|
NM_001142864.4(PIEZO1):c.1688C>T (p.Thr563Met)
|
rs192347853
|
0.00067
|
|
NM_001242957.3(MAK):c.975G>A (p.Pro325=)
|
rs145014649
|
0.00067
|
|
NM_001243279.3(ACSF3):c.823-4G>C
|
rs558325262
|
0.00067
|
|
NM_001270508.2(TNFAIP3):c.1634C>T (p.Ala545Val)
|
rs142752989
|
0.00067
|
|
NM_001288705.3(CSF1R):c.881G>A (p.Arg294Gln)
|
rs149168939
|
0.00067
|
|
NM_001330677.2(TBX15):c.1728A>G (p.Gln576=)
|
rs200564235
|
0.00067
|
|
NM_001363118.2(SLC52A2):c.1122C>T (p.Leu374=)
|
rs144290224
|
0.00067
|
|
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp)
|
rs137878131
|
0.00067
|
|
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg)
|
rs200764366
|
0.00067
|
|
NM_001457.4(FLNB):c.4307G>A (p.Arg1436Gln)
|
rs140018418
|
0.00067
|
|
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu)
|
rs757712173
|
0.00067
|
|
NM_002470.4(MYH3):c.736-6A>G
|
rs372079063
|
0.00067
|
|
NM_002857.4(PEX19):c.498T>G (p.Asp166Glu)
|
rs142780305
|
0.00067
|
|
NM_003098.3(SNTA1):c.440C>A (p.Thr147Asn)
|
rs141724500
|
0.00067
|
|
NM_004100.5(EYA4):c.866C>T (p.Thr289Met)
|
rs41286200
|
0.00067
|
|
NM_004403.3(GSDME):c.823A>G (p.Ile275Val)
|
rs149956122
|
0.00067
|
|
NM_004415.4(DSP):c.782C>T (p.Ala261Val)
|
rs139509870
|
0.00067
|
|
NM_004426.3(PHC1):c.2726G>A (p.Gly909Glu)
|
rs141256799
|
0.00067
|
|
NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys)
|
rs28939695
|
0.00067
|
|
NM_006279.5(ST3GAL3):c.209+9918C>T
|
rs113954699
|
0.00067
|
|
NM_006348.5(COG5):c.1037C>T (p.Pro346Leu)
|
rs143773937
|
0.00067
|
|
NM_006946.4(SPTBN2):c.3116G>A (p.Arg1039Gln)
|
rs148826890
|
0.00067
|
|
NM_014363.6(SACS):c.2234G>A (p.Arg745His)
|
rs143677534
|
0.00067
|
|
NM_014425.5(INVS):c.367C>T (p.Arg123Trp)
|
rs149315279
|
0.00067
|
|
NM_015192.4(PLCB1):c.2841A>G (p.Glu947=)
|
rs35245209
|
0.00067
|
|
NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg)
|
rs139279977
|
0.00067
|
|
NM_016239.4(MYO15A):c.8157C>T (p.His2719=)
|
rs373955726
|
0.00067
|
|
NM_020964.3(EPG5):c.299C>T (p.Thr100Ile)
|
rs200530606
|
0.00067
|
|
NM_024408.4(NOTCH2):c.2830G>T (p.Asp944Tyr)
|
rs151130105
|
0.00067
|
|
NM_024513.4(FYCO1):c.4151C>G (p.Ala1384Gly)
|
rs149783680
|
0.00067
|
|
NM_024596.5(MCPH1):c.1273T>A (p.Tyr425Asn)
|
rs201261159
|
0.00067
|
|
NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala)
|
rs369227219
|
0.00067
|
|
NM_025243.4(SLC19A3):c.801A>G (p.Gln267=)
|
rs147205930
|
0.00067
|
|
NM_032119.4(ADGRV1):c.5282C>G (p.Ser1761Cys)
|
rs200392821
|
0.00067
|
|
NM_032806.6(POMGNT2):c.488A>G (p.Asn163Ser)
|
rs140389725
|
0.00067
|
|
NM_139343.3(BIN1):c.30G>A (p.Thr10=)
|
rs35535012
|
0.00067
|
|
NM_144672.4(OTOA):c.236G>A (p.Arg79Gln)
|
rs147088274
|
0.00067
|
|
NM_144991.3(TSPEAR):c.364C>T (p.Arg122Trp)
|
rs146257403
|
0.00067
|
|
NM_153717.3(EVC):c.2322G>C (p.Ala774=)
|
rs150373930
|
0.00067
|
|
NM_174936.4(PCSK9):c.169G>A (p.Glu57Lys)
|
rs145886902
|
0.00067
|
|
NM_182961.4(SYNE1):c.15907C>T (p.Arg5303Trp)
|
rs149215868
|
0.00067
|
|
NM_198586.3(NHLRC1):c.681T>A (p.Asn227Lys)
|
rs140850172
|
0.00067
|
|
NM_198904.4(GABRG2):c.798T>C (p.Phe266=)
|
rs115126975
|
0.00067
|
|
NM_203447.4(DOCK8):c.3263C>T (p.Thr1088Met)
|
rs149065013
|
0.00067
|
|
NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp)
|
rs148033154
|
0.00067
|
|
NM_000046.5(ARSB):c.1337-3T>A
|
rs183651028
|
0.00066
|
|
NM_000053.4(ATP7B):c.1198A>G (p.Thr400Ala)
|
rs199807461
|
0.00066
|
|
NM_000057.4(BLM):c.2919C>T (p.Tyr973=)
|
rs181161119
|
0.00066
|
|
NM_000089.4(COL1A2):c.3313G>A (p.Gly1105Ser)
|
rs139851311
|
0.00066
|
|
NM_000154.2(GALK1):c.746C>T (p.Ala249Val)
|
rs149825190
|
0.00066
|
|
NM_000179.3(MSH6):c.1665A>G (p.Ala555=)
|
rs146785465
|
0.00066
|
|
NM_000237.3(LPL):c.786G>A (p.Gln262=)
|
rs140986245
|
0.00066
|
|
NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys)
|
rs104895192
|
0.00066
|
|
NM_000253.3(MTTP):c.-214G>A
|
rs569667113
|
0.00066
|
|
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met)
|
rs138911275
|
0.00066
|
|
NM_000293.3(PHKB):c.1746A>G (p.Leu582=)
|
rs111970242
|
0.00066
|
|
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr)
|
rs45563942
|
0.00066
|
|
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)
|
rs61748549
|
0.00066
|
|
NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr)
|
rs34505698
|
0.00066
|
|
NM_000426.4(LAMA2):c.6268+5G>C
|
rs182064878
|
0.00066
|
|
NM_000466.3(PEX1):c.2645C>T (p.Pro882Leu)
|
rs141764012
|
0.00066
|
|
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr)
|
rs201756421
|
0.00066
|
|
NM_000744.7(CHRNA4):c.1203G>C (p.Leu401=)
|
rs56142348
|
0.00066
|
|
NM_001035.3(RYR2):c.11557+14C>T
|
rs374155447
|
0.00066
|
|
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val)
|
rs148154172
|
0.00066
|
|
NM_001083961.2(WDR62):c.3612C>T (p.Gly1204=)
|
rs139946168
|
0.00066
|
|
NM_001100.4(ACTA1):c.132C>T (p.Gly44=)
|
rs146956806
|
0.00066
|
|
NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=)
|
rs41308303
|
0.00066
|
|
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=)
|
rs200750234
|
0.00066
|
|
NM_001130438.3(SPTAN1):c.2610A>G (p.Gln870=)
|
rs138101005
|
0.00066
|
|
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val)
|
rs202238753
|
0.00066
|
|
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser)
|
rs201652272
|
0.00066
|
|
NM_001160372.4(TRAPPC9):c.2671A>C (p.Thr891Pro)
|
rs562249191
|
0.00066
|
|
NM_001164508.2(NEB):c.8978A>G (p.Lys2993Arg)
|
rs138217855
|
0.00066
|
|
NM_001190467.2(PRR36):c.2295G>A (p.Pro765=)
|
rs398122421
|
0.00066
|
|
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe)
|
rs201944202
|
0.00066
|
|
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met)
|
rs72648237
|
0.00066
|
|
NM_001291303.3(FAT4):c.7103C>A (p.Ala2368Glu)
|
rs116568645
|
0.00066
|
|
NM_001375405.1(CEP120):c.2647C>T (p.Arg883Cys)
|
rs140306974
|
0.00066
|
|
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His)
|
rs142558799
|
0.00066
|
|
NM_001378454.1(ALMS1):c.3305A>C (p.Lys1102Thr)
|
rs185586839
|
0.00066
|
|
NM_001378454.1(ALMS1):c.4134T>C (p.Ser1378=)
|
rs200491758
|
0.00066
|
|
NM_001378778.1(MPDZ):c.3602C>G (p.Thr1201Ser)
|
rs184213204
|
0.00066
|
|
NM_001378969.1(KCND3):c.5C>A (p.Ala2Glu)
|
rs201340369
|
0.00066
|
|
NM_001379500.1(COL18A1):c.1882G>A (p.Ala628Thr)
|
rs181012655
|
0.00066
|
|
NM_001457.4(FLNB):c.4233C>G (p.Phe1411Leu)
|
rs143831841
|
0.00066
|
|
NM_001558.4(IL10RA):c.1072G>A (p.Asp358Asn)
|
rs78753252
|
0.00066
|
|
NM_001698.3(AUH):c.598+10A>C
|
rs186203318
|
0.00066
|
|
NM_001966.4(EHHADH):c.881C>T (p.Ala294Val)
|
rs140514906
|
0.00066
|
|
NM_002206.3(ITGA7):c.1722C>A (p.Ala574=)
|
rs142311782
|
0.00066
|
|
NM_002241.5(KCNJ10):c.615A>G (p.Lys205=)
|
rs142228240
|
0.00066
|
|
NM_002386.4(MC1R):c.637C>T (p.Arg213Trp)
|
rs200000734
|
0.00066
|
|
NM_002473.6(MYH9):c.2872G>A (p.Ala958Thr)
|
rs151036570
|
0.00066
|
|
NM_002473.6(MYH9):c.591G>A (p.Ser197=)
|
rs140241271
|
0.00066
|
|
NM_002768.5(CHMP1A):c.198G>A (p.Ala66=)
|
rs201479143
|
0.00066
|
|
NM_002905.5(RDH5):c.753C>T (p.Arg251=)
|
rs141783438
|
0.00066
|
|
NM_003072.5(SMARCA4):c.223-5C>T
|
rs376775933
|
0.00066
|
|
NM_003119.4(SPG7):c.199C>T (p.Leu67=)
|
rs148315471
|
0.00066
|
|
NM_003384.3(VRK1):c.1020C>T (p.Asp340=)
|
rs147853760
|
0.00066
|
|
NM_003742.4(ABCB11):c.383G>A (p.Arg128His)
|
rs181533618
|
0.00066
|
|
NM_003839.4(TNFRSF11A):c.718A>G (p.Lys240Glu)
|
rs148185533
|
0.00066
|
|
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg)
|
rs200104362
|
0.00066
|
|
NM_004369.4(COL6A3):c.3902G>A (p.Arg1301Gln)
|
rs148038440
|
0.00066
|
|
NM_004438.5(EPHA4):c.2956G>A (p.Val986Ile)
|
rs141387215
|
0.00066
|
|
NM_004463.3(FGD1):c.1647G>A (p.Glu549=)
|
rs142114385
|
0.00066
|
|
NM_004722.4(AP4M1):c.333A>C (p.Glu111Asp)
|
rs138437966
|
0.00066
|
|
NM_004990.4(MARS1):c.2390C>T (p.Thr797Ile)
|
rs146851019
|
0.00066
|
|
NM_005142.3(CBLIF):c.455C>T (p.Pro152Leu)
|
rs148081315
|
0.00066
|
|
NM_005476.7(GNE):c.1267A>G (p.Ile423Val)
|
rs35638832
|
0.00066
|
|
NM_005529.7(HSPG2):c.6295G>A (p.Gly2099Ser)
|
rs113695182
|
0.00066
|
|
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn)
|
rs146309392
|
0.00066
|
|
NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His)
|
rs149644947
|
0.00066
|
|
NM_005591.4(MRE11):c.120C>T (p.Leu40=)
|
rs1805364
|
0.00066
|
|
NM_005633.4(SOS1):c.3391+7A>G
|
rs201982464
|
0.00066
|
|
NM_006031.6(PCNT):c.7332C>T (p.Thr2444=)
|
rs150882711
|
0.00066
|
|
NM_006610.4(MASP2):c.352C>T (p.Arg118Cys)
|
rs147270785
|
0.00066
|
|
NM_007294.4(BRCA1):c.1427A>G (p.His476Arg)
|
rs55720177
|
0.00066
|
|
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=)
|
rs1800740
|
0.00066
|
|
NM_007294.4(BRCA1):c.81-12C>G
|
rs80358055
|
0.00066
|
|
NM_013382.7(POMT2):c.1935C>T (p.Leu645=)
|
rs141193672
|
0.00066
|
|
NM_014244.5(ADAMTS2):c.1883G>A (p.Arg628His)
|
rs140621260
|
0.00066
|
|
NM_014994.3(MAPKBP1):c.2519C>A (p.Ala840Glu)
|
rs147620917
|
0.00066
|
|
NM_015378.4(VPS13D):c.6303T>G (p.His2101Gln)
|
rs143933696
|
0.00066
|
|
NM_017547.4(FOXRED1):c.683G>A (p.Arg228Gln)
|
rs139851379
|
0.00066
|
|
NM_017909.4(RMND1):c.320T>A (p.Val107Glu)
|
rs199787718
|
0.00066
|
|
NM_018136.5(ASPM):c.1007C>A (p.Thr336Lys)
|
rs112113370
|
0.00066
|
|
NM_018136.5(ASPM):c.844A>C (p.Asn282His)
|
rs113777932
|
0.00066
|
|
NM_018136.5(ASPM):c.905G>A (p.Cys302Tyr)
|
rs77736715
|
0.00066
|
|
NM_018249.6(CDK5RAP2):c.55T>C (p.Cys19Arg)
|
rs143766657
|
0.00066
|
|
NM_020166.5(MCCC1):c.1492C>T (p.Leu498Phe)
|
rs139926581
|
0.00066
|
|
NM_020191.4(MRPS22):c.938C>T (p.Ser313Leu)
|
rs147932653
|
0.00066
|
|
NM_020451.3(SELENON):c.-35T>C
|
rs886038656
|
0.00066
|
|
NM_021814.5(ELOVL5):c.698A>G (p.Tyr233Cys)
|
rs41273880
|
0.00066
|
|
NM_023036.6(DNAI2):c.1188G>A (p.Arg396=)
|
rs139935771
|
0.00066
|
|
NM_024301.5(FKRP):c.606G>A (p.Leu202=)
|
rs140084192
|
0.00066
|
|
NM_024422.6(DSC2):c.172T>G (p.Phe58Val)
|
rs138749562
|
0.00066
|
|
NM_024513.4(FYCO1):c.1887C>T (p.Val629=)
|
rs140372149
|
0.00066
|
|
NM_024513.4(FYCO1):c.3024T>A (p.Ser1008Arg)
|
rs146592828
|
0.00066
|
|
NM_024649.5(BBS1):c.616T>G (p.Leu206Val)
|
rs146052054
|
0.00066
|
|
NM_025265.4(TSEN2):c.1332A>G (p.Lys444=)
|
rs113981920
|
0.00066
|
|
NM_030665.4(RAI1):c.5036C>T (p.Ala1679Val)
|
rs142981643
|
0.00066
|
|
NM_030787.4(CFHR5):c.1412G>A (p.Gly471Glu)
|
rs144438200
|
0.00066
|
|
NM_031466.8(TRAPPC9):c.-11+6C>T
|
rs376367358
|
0.00066
|
|
NM_032119.4(ADGRV1):c.15177G>T (p.Gln5059His)
|
rs201416399
|
0.00066
|
|
NM_032409.3(PINK1):c.1075G>A (p.Ala359Thr)
|
rs76753586
|
0.00066
|
|
NM_033118.4(MYLK2):c.524C>A (p.Thr175Asn)
|
rs202084078
|
0.00066
|
|
NM_133259.4(LRPPRC):c.1426A>G (p.Thr476Ala)
|
rs115507225
|
0.00066
|
|
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile)
|
rs145651593
|
0.00066
|
|
NM_144508.5(KNL1):c.251-9T>C
|
rs371294019
|
0.00066
|
|
NM_147196.3(TMIE):c.206C>T (p.Ser69Phe)
|
rs188085072
|
0.00066
|
|
NM_152564.5(VPS13B):c.7647C>T (p.Phe2549=)
|
rs112634620
|
0.00066
|
|
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp)
|
rs148195424
|
0.00066
|
|
NM_182961.4(SYNE1):c.24555C>T (p.Ile8185=)
|
rs201799566
|
0.00066
|
|
NM_194279.4(ISCA2):c.83C>T (p.Ala28Val)
|
rs371830968
|
0.00066
|
|
NM_198428.3(BBS9):c.2258A>T (p.Glu753Val)
|
rs61764068
|
0.00066
|
|
NM_198904.4(GABRG2):c.-104T>G
|
rs886060380
|
0.00066
|
|
NM_000195.5(HPS1):c.787C>T (p.Arg263Trp)
|
rs145042327
|
0.00065
|
|
NM_000306.4(POU1F1):c.605-5T>G
|
rs201406891
|
0.00065
|
|
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu)
|
rs41276525
|
0.00065
|
|
NM_000419.5(ITGA2B):c.2965G>A (p.Ala989Thr)
|
rs78165611
|
0.00065
|
|
NM_000426.4(LAMA2):c.2115T>G (p.Leu705=)
|
rs149753273
|
0.00065
|
|
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu)
|
rs142994610
|
0.00065
|
|
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn)
|
rs138874610
|
0.00065
|
|
NM_001008215.3(COA5):c.*3C>G
|
rs372867268
|
0.00065
|
|
NM_001130987.2(DYSF):c.990C>T (p.Leu330=)
|
rs140809078
|
0.00065
|
|
NM_001142864.4(PIEZO1):c.1495G>A (p.Val499Ile)
|
rs530486445
|
0.00065
|
|
NM_001148.6(ANK2):c.6206G>A (p.Arg2069His)
|
rs149645600
|
0.00065
|
|
NM_001164508.2(NEB):c.217C>T (p.Arg73Trp)
|
rs77994592
|
0.00065
|
|
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu)
|
rs201713027
|
0.00065
|
|
NM_001256071.3(RNF213):c.14677G>C (p.Glu4893Gln)
|
rs143163385
|
0.00065
|
|
NM_001267550.2(TTN):c.55374C>G (p.Ser18458Arg)
|
rs200550947
|
0.00065
|
|
NM_001277313.2(FMN1):c.2044-2686C>T
|
rs202063843
|
0.00065
|
|
NM_001322934.2(NFKB2):c.1736G>A (p.Arg579His)
|
rs200227171
|
0.00065
|
|
NM_001324144.2(ZNF41):c.332C>T (p.Pro111Leu)
|
rs104894955
|
0.00065
|
|
NM_001353214.3(DYM):c.1943A>G (p.Gln648Arg)
|
rs146000214
|
0.00065
|
|
NM_001355436.2(SPTB):c.2519G>A (p.Arg840His)
|
rs146326769
|
0.00065
|
|
NM_001365276.2(TNXB):c.8285A>G (p.His2762Arg)
|
rs376978176
|
0.00065
|
|
NM_001368882.1(COL13A1):c.1931T>C (p.Ile644Thr)
|
rs147220162
|
0.00065
|
|
NM_001368894.2(PAX6):c.*891G>A
|
rs530259403
|
0.00065
|
|
NM_001369369.1(FOXN1):c.1657A>G (p.Ser553Gly)
|
rs137872361
|
0.00065
|
|
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly)
|
rs201390755
|
0.00065
|
|
NM_001386298.1(CIC):c.5279C>T (p.Ala1760Val)
|
rs45596843
|
0.00065
|
|
NM_001605.3(AARS1):c.2580G>A (p.Leu860=)
|
rs145581652
|
0.00065
|
|
NM_001625.4(AK2):c.614G>A (p.Gly205Glu)
|
rs202182972
|
0.00065
|
|
NM_001875.5(CPS1):c.1714G>A (p.Asp572Asn)
|
rs142916171
|
0.00065
|
|
NM_002180.3(IGHMBP2):c.548-10T>G
|
rs139207271
|
0.00065
|
|
NM_002491.3(NDUFB3):c.19C>T (p.His7Tyr)
|
rs144513268
|
0.00065
|
|
NM_003922.4(HERC1):c.4483G>A (p.Glu1495Lys)
|
rs201335263
|
0.00065
|
|
NM_003922.4(HERC1):c.8542G>A (p.Gly2848Ser)
|
rs79711865
|
0.00065
|
|
NM_003977.4(AIP):c.896C>T (p.Ala299Val)
|
rs148986773
|
0.00065
|
|
NM_004086.3(COCH):c.153A>C (p.Pro51=)
|
rs573330522
|
0.00065
|
|
NM_004525.3(LRP2):c.4803C>T (p.Cys1601=)
|
rs141068435
|
0.00065
|
|
NM_004608.4(TBX6):c.585C>T (p.Val195=)
|
rs148435229
|
0.00065
|
|
NM_005055.5(RAPSN):c.412G>A (p.Val138Ile)
|
rs35810986
|
0.00065
|
|
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val)
|
rs61736659
|
0.00065
|
|
NM_005732.4(RAD50):c.671G>A (p.Arg224His)
|
rs28903088
|
0.00065
|
|
NM_005912.3(MC4R):c.335C>T (p.Thr112Met)
|
rs13447329
|
0.00065
|
|
NM_006017.3(PROM1):c.1610A>G (p.Asp537Gly)
|
rs200545555
|
0.00065
|
|
NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly)
|
rs62617075
|
0.00065
|
|
NM_006031.6(PCNT):c.623G>A (p.Arg208His)
|
rs142318247
|
0.00065
|
|
NM_006158.5(NEFL):c.639C>G (p.Ile213Met)
|
rs62636522
|
0.00065
|
|
NM_006231.4(POLE):c.3046G>A (p.Val1016Met)
|
rs147692158
|
0.00065
|
|
NM_007194.4(CHEK2):c.-6G>A
|
rs376995740
|
0.00065
|
|
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile)
|
rs1800704
|
0.00065
|
|
NM_007294.4(BRCA1):c.981A>G (p.Thr327=)
|
rs1800063
|
0.00065
|
|
NM_013382.7(POMT2):c.649G>A (p.Ala217Thr)
|
rs144748043
|
0.00065
|
|
NM_014844.5(TECPR2):c.1981G>A (p.Glu661Lys)
|
rs144915346
|
0.00065
|
|
NM_014855.3(AP5Z1):c.1936G>A (p.Val646Met)
|
rs200280538
|
0.00065
|
|
NM_014855.3(AP5Z1):c.1964C>T (p.Ser655Leu)
|
rs61750324
|
0.00065
|
|
NM_015192.4(PLCB1):c.1881G>A (p.Gln627=)
|
rs45492700
|
0.00065
|
|
NM_015375.3(DSTYK):c.86G>A (p.Arg29Gln)
|
rs200780796
|
0.00065
|
|
NM_015721.3(GEMIN4):c.2197C>T (p.Leu733=)
|
rs188821606
|
0.00065
|
|
NM_017909.4(RMND1):c.668C>T (p.Pro223Leu)
|
rs142521318
|
0.00065
|
|
NM_020533.3(MCOLN1):c.71C>A (p.Thr24Asn)
|
rs141168886
|
0.00065
|
|
NM_022436.3(ABCG5):c.510C>T (p.Ala170=)
|
rs147061424
|
0.00065
|
|
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=)
|
rs142106322
|
0.00065
|
|
NM_080605.4(B3GALT6):c.515C>T (p.Ala172Val)
|
rs200646244
|
0.00065
|
|
NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg)
|
rs143451766
|
0.00065
|
|
NM_173477.5(USH1G):c.83C>T (p.Pro28Leu)
|
rs145448362
|
0.00065
|
|
NM_198075.4(LRRC56):c.1244G>A (p.Arg415Gln)
|
rs138766042
|
0.00065
|
|
NM_198834.3(ACACA):c.4057-5C>T
|
rs200301970
|
0.00065
|
|
NM_206933.4(USH2A):c.11225A>G (p.Asn3742Ser)
|
rs139921272
|
0.00065
|
|
NM_206933.4(USH2A):c.12598T>G (p.Trp4200Gly)
|
rs114116572
|
0.00065
|
|
NM_206933.4(USH2A):c.4578G>T (p.Gly1526=)
|
rs147560504
|
0.00065
|
|
NM_000037.4(ANK1):c.2196+6G>A
|
rs200761553
|
0.00064
|
|
NM_000053.4(ATP7B):c.98T>C (p.Met33Thr)
|
rs184868522
|
0.00064
|
|
NM_000059.4(BRCA2):c.7007+53G>A
|
rs56014558
|
0.00064
|
|
NM_000070.3(CAPN3):c.525C>T (p.Asp175=)
|
rs144383442
|
0.00064
|
|
NM_000071.3(CBS):c.296T>A (p.Phe99Tyr)
|
rs112029370
|
0.00064
|
|
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser)
|
rs147936946
|
0.00064
|
|
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp)
|
rs41557217
|
0.00064
|
|
NM_000208.4(INSR):c.2263C>T (p.Pro755Ser)
|
rs148838377
|
0.00064
|
|
NM_000254.3(MTR):c.2622G>A (p.Pro874=)
|
rs141919148
|
0.00064
|
|
NM_000260.4(MYO7A):c.2283G>A (p.Arg761=)
|
rs111033229
|
0.00064
|
|
NM_000295.5(SERPINA1):c.43C>T (p.Leu15=)
|
rs147283849
|
0.00064
|
|
NM_000302.4(PLOD1):c.804C>T (p.Thr268=)
|
rs140758113
|
0.00064
|
|
NM_000318.3(PEX2):c.269C>T (p.Ser90Phe)
|
rs146354196
|
0.00064
|
|
NM_000631.5(NCF4):c.647C>T (p.Thr216Met)
|
rs146911421
|
0.00064
|
|
NM_000642.3(AGL):c.334A>G (p.Ile112Val)
|
rs147024351
|
0.00064
|
|
NM_000875.5(IGF1R):c.1784G>A (p.Arg595His)
|
rs56248469
|
0.00064
|
|
NM_001015880.2(PAPSS2):c.1167C>T (p.Asp389=)
|
rs145242127
|
0.00064
|
|
NM_001032283.3(TMPO):c.565+2149C>T
|
rs34150443
|
0.00064
|
|
NM_001077525.3(MTMR14):c.780T>A (p.Asp260Glu)
|
rs142525507
|
0.00064
|
|
NM_001081.4(CUBN):c.4669C>T (p.Leu1557Phe)
|
rs140970422
|
0.00064
|
|
NM_001105206.3(LAMA4):c.3943G>A (p.Val1315Ile)
|
rs70940811
|
0.00064
|
|
NM_001130009.3(GEN1):c.749C>T (p.Pro250Leu)
|
rs141482726
|
0.00064
|
|
NM_001164508.2(NEB):c.23141G>A (p.Arg7714Gln)
|
rs200963111
|
0.00064
|
|
NM_001166114.2(PNPLA6):c.3495C>T (p.Ser1165=)
|
rs138837774
|
0.00064
|
|
NM_001183.6(ATP6AP1):c.43C>T (p.Arg15Trp)
|
rs201620814
|
0.00064
|
|
NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala)
|
rs377289817
|
0.00064
|
|
NM_001267550.2(TTN):c.59316G>A (p.Pro19772=)
|
rs377180286
|
0.00064
|
|
NM_001267550.2(TTN):c.74596A>G (p.Thr24866Ala)
|
rs199784966
|
0.00064
|
|
NM_001267550.2(TTN):c.78896T>A (p.Val26299Asp)
|
rs73036377
|
0.00064
|
|
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr)
|
rs199784139
|
0.00064
|
|
NM_001368882.1(COL13A1):c.630+2T>C
|
rs546473709
|
0.00064
|
|
NM_001372051.1(CASP8):c.892A>G (p.Ile298Val)
|
rs146286958
|
0.00064
|
|
NM_001377.3(DYNC2H1):c.5449A>G (p.Met1817Val)
|
rs200208000
|
0.00064
|
|
NM_001377.3(DYNC2H1):c.8831A>G (p.Gln2944Arg)
|
rs201252553
|
0.00064
|
|
NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu)
|
rs200266868
|
0.00064
|
|
NM_001379081.2(FREM1):c.3631C>T (p.Pro1211Ser)
|
rs76714828
|
0.00064
|
|
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu)
|
rs150669855
|
0.00064
|
|
NM_003193.5(TBCE):c.1465C>A (p.Leu489Ile)
|
rs143917509
|
0.00064
|
|
NM_003865.3(HESX1):c.385G>A (p.Val129Ile)
|
rs143057250
|
0.00064
|
|
NM_004006.3(DMD):c.3326A>T (p.Asn1109Ile)
|
rs200596739
|
0.00064
|
|
NM_004260.4(RECQL4):c.3600G>A (p.Thr1200=)
|
rs35225938
|
0.00064
|
|
NM_004655.4(AXIN2):c.2285G>A (p.Ser762Asn)
|
rs117688560
|
0.00064
|
|
NM_004826.4(ECEL1):c.2229-7A>C
|
rs368488157
|
0.00064
|
|
NM_005045.4(RELN):c.6962C>T (p.Thr2321Met)
|
rs116065504
|
0.00064
|
|
NM_005957.5(MTHFR):c.1392C>T (p.Thr464=)
|
rs79157191
|
0.00064
|
|
NM_006393.3(NEBL):c.2080C>T (p.Arg694Trp)
|
rs114875104
|
0.00064
|
|
NM_006440.5(TXNRD2):c.858G>C (p.Arg286Ser)
|
rs201503021
|
0.00064
|
|
NM_006662.3(SRCAP):c.2573G>A (p.Arg858His)
|
rs35892240
|
0.00064
|
|
NM_006922.4(SCN3A):c.44G>A (p.Arg15His)
|
rs139769668
|
0.00064
|
|
NM_007103.4(NDUFV1):c.563G>A (p.Gly188Asp)
|
rs142982022
|
0.00064
|
|
NM_007126.5(VCP):c.1584C>T (p.Ala528=)
|
rs147623367
|
0.00064
|
|
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn)
|
rs41293447
|
0.00064
|
|
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=)
|
rs28897693
|
0.00064
|
|
NM_012418.4(FSCN2):c.1274-3C>T
|
rs201054437
|
0.00064
|
|
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu)
|
rs141033098
|
0.00064
|
|
NM_014053.4(FLVCR1):c.1657T>G (p.Ser553Ala)
|
rs149887215
|
0.00064
|
|
NM_015102.5(NPHP4):c.1482G>A (p.Gln494=)
|
rs199557439
|
0.00064
|
|
NM_016356.5(DCDC2):c.402G>A (p.Pro134=)
|
rs142088541
|
0.00064
|
|
NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp)
|
rs200038418
|
0.00064
|
|
NM_017721.5(CC2D1A):c.1448C>A (p.Pro483His)
|
rs201884654
|
0.00064
|
|
NM_017763.6(RNF43):c.970C>A (p.Gln324Lys)
|
rs111856468
|
0.00064
|
|
NM_018089.3(ANKZF1):c.1763T>C (p.Met588Thr)
|
rs200339260
|
0.00064
|
|
NM_018292.5(QRSL1):c.1097G>A (p.Arg366Gln)
|
rs72946534
|
0.00064
|
|
NM_018714.3(COG1):c.1282-3T>C
|
rs188853520
|
0.00064
|
|
NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn)
|
rs142864437
|
0.00064
|
|
NM_021942.6(TRAPPC11):c.2147C>G (p.Ala716Gly)
|
rs143990563
|
0.00064
|
|
NM_025000.4(DCAF17):c.792T>C (p.Thr264=)
|
rs199742600
|
0.00064
|
|
NM_025132.4(WDR19):c.2608G>A (p.Asp870Asn)
|
rs201963605
|
0.00064
|
|
NM_032119.4(ADGRV1):c.2459A>G (p.Asn820Ser)
|
rs144918959
|
0.00064
|
|
NM_032119.4(ADGRV1):c.2740T>C (p.Tyr914His)
|
rs189967386
|
0.00064
|
|
NM_032638.5(GATA2):c.121C>G (p.Pro41Ala)
|
rs143590990
|
0.00064
|
|
NM_139242.4(MTFMT):c.35C>T (p.Pro12Leu)
|
rs774208069
|
0.00064
|
|
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp)
|
rs140698625
|
0.00064
|
|
NM_153676.4(USH1C):c.669C>A (p.Gly223=)
|
rs144761543
|
0.00064
|
|
NM_172201.2(KCNE2):c.317C>T (p.Ser106Leu)
|
rs183427173
|
0.00064
|
|
NM_182914.3(SYNE2):c.3506G>A (p.Arg1169His)
|
rs200437377
|
0.00064
|
|
NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln)
|
rs117647282
|
0.00064
|
|
NM_182943.3(PLOD2):c.844T>C (p.Cys282Arg)
|
rs138948307
|
0.00064
|
|
NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His)
|
rs202170644
|
0.00064
|
|
NM_201384.3(PLEC):c.5024G>A (p.Arg1675Gln)
|
rs370569372
|
0.00064
|
|
NM_201384.3(PLEC):c.5796G>A (p.Ala1932=)
|
rs375568532
|
0.00064
|
|
NM_201384.3(PLEC):c.6536G>A (p.Arg2179Gln)
|
rs117962829
|
0.00064
|
|
NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe)
|
rs150528041
|
0.00064
|
|
NM_203447.4(DOCK8):c.3023G>A (p.Arg1008Gln)
|
rs145844320
|
0.00064
|
|
NM_000054.7(AVPR2):c.913G>A (p.Ala305Thr)
|
rs145953185
|
0.00063
|
|
NM_000082.4(ERCC8):c.1012G>A (p.Asp338Asn)
|
rs141845482
|
0.00063
|
|
NM_000124.4(ERCC6):c.3391A>G (p.Asn1131Asp)
|
rs147079519
|
0.00063
|
|
NM_000158.4(GBE1):c.350T>C (p.Leu117Pro)
|
rs186942296
|
0.00063
|
|
NM_000222.3(KIT):c.503C>T (p.Ala168Val)
|
rs149092990
|
0.00063
|
|
NM_000238.4(KCNH2):c.982C>T (p.Arg328Cys)
|
rs199473505
|
0.00063
|
|
NM_000243.3(MEFV):c.932C>T (p.Ala311Val)
|
rs74346519
|
0.00063
|
|
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu)
|
rs141711342
|
0.00063
|
|
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys)
|
rs201312636
|
0.00063
|
|
NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp)
|
rs199575418
|
0.00063
|
|
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=)
|
rs115994665
|
0.00063
|
|
NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly)
|
rs779791579
|
0.00063
|
|
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn)
|
rs199473316
|
0.00063
|
|
NM_000377.3(WAS):c.538C>A (p.His180Asn)
|
rs145040665
|
0.00063
|
|
NM_000384.3(APOB):c.2630C>T (p.Pro877Leu)
|
rs12714097
|
0.00063
|
|
NM_000426.4(LAMA2):c.6128A>G (p.Gln2043Arg)
|
rs144155507
|
0.00063
|
|
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp)
|
rs148046938
|
0.00063
|
|
NM_000543.5(SMPD1):c.8G>A (p.Arg3His)
|
rs199836262
|
0.00063
|
|
NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=)
|
rs200330469
|
0.00063
|
|
NM_000834.5(GRIN2B):c.3747C>T (p.Gly1249=)
|
rs138771137
|
0.00063
|
|
NM_001004334.4(GPR179):c.2410C>T (p.Arg804Trp)
|
rs201086495
|
0.00063
|
|
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)
|
rs149514924
|
0.00063
|
|
NM_001035.3(RYR2):c.615C>T (p.Ala205=)
|
rs112680790
|
0.00063
|
|
NM_001039141.3(TRIOBP):c.202A>G (p.Thr68Ala)
|
rs200529550
|
0.00063
|
|
NM_001039876.3(SYNE4):c.277G>A (p.Glu93Lys)
|
rs145204031
|
0.00063
|
|
NM_001039876.3(SYNE4):c.756G>A (p.Ala252=)
|
rs137899688
|
0.00063
|
|
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr)
|
rs144814658
|
0.00063
|
|
NM_001080512.3(BICC1):c.974A>G (p.Asn325Ser)
|
rs144147641
|
0.00063
|
|
NM_001089.3(ABCA3):c.2614A>G (p.Ser872Gly)
|
rs151078160
|
0.00063
|
|
NM_001122659.3(EDNRB):c.227G>T (p.Arg76Met)
|
rs2228271
|
0.00063
|
|
NM_001164508.2(NEB):c.6088C>T (p.Leu2030Phe)
|
rs200251444
|
0.00063
|
|
NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=)
|
rs374780430
|
0.00063
|
|
NM_001206979.2(NR1H4):c.18T>C (p.Asn6=)
|
rs140648896
|
0.00063
|
|
NM_001211.6(BUB1B):c.1001C>T (p.Pro334Leu)
|
rs141953425
|
0.00063
|
|
NM_001267550.2(TTN):c.12401T>A (p.Ile4134Asn)
|
rs112009206
|
0.00063
|
|
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro)
|
rs201412693
|
0.00063
|
|
NM_001267550.2(TTN):c.55659G>A (p.Val18553=)
|
rs368450420
|
0.00063
|
|
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His)
|
rs200317412
|
0.00063
|
|
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys)
|
rs56341835
|
0.00063
|
|
NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn)
|
rs200450022
|
0.00063
|
|
NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val)
|
rs182549226
|
0.00063
|
|
NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys)
|
rs144291418
|
0.00063
|
|
NM_001355436.2(SPTB):c.5855T>C (p.Ile1952Thr)
|
rs138039383
|
0.00063
|
|
NM_001367624.2(ZNF469):c.11697A>C (p.Arg3899Ser)
|
rs561879014
|
0.00063
|
|
NM_001367624.2(ZNF469):c.1406G>C (p.Ser469Thr)
|
rs770926082
|
0.00063
|
|
NM_001371986.1(UNC80):c.3428A>C (p.Glu1143Ala)
|
rs78912192
|
0.00063
|
|
NM_001378778.1(MPDZ):c.5231+4T>G
|
rs199870788
|
0.00063
|
|
NM_001379500.1(COL18A1):c.107-12197G>A
|
rs200284308
|
0.00063
|
|
NM_001384474.1(LOXHD1):c.5050G>A (p.Ala1684Thr)
|
rs376122149
|
0.00063
|
|
NM_001482.3(GATM):c.407C>T (p.Thr136Met)
|
rs148564534
|
0.00063
|
|
NM_001793.6(CDH3):c.1785C>T (p.Val595=)
|
rs376302917
|
0.00063
|
|
NM_002206.3(ITGA7):c.340A>G (p.Met114Val)
|
rs146565340
|
0.00063
|
|
NM_003060.4(SLC22A5):c.1579G>C (p.Val527Leu)
|
rs145792427
|
0.00063
|
|
NM_003193.5(TBCE):c.100+6C>T
|
rs182896657
|
0.00063
|
|
NM_003849.4(SUCLG1):c.202-4T>C
|
rs141973418
|
0.00063
|
|
NM_004260.4(RECQL4):c.817G>A (p.Ala273Thr)
|
rs34103564
|
0.00063
|
|
NM_004304.5(ALK):c.932G>A (p.Arg311His)
|
rs150966028
|
0.00063
|
|
NM_004370.6(COL12A1):c.1517C>G (p.Ala506Gly)
|
rs189762594
|
0.00063
|
|
NM_004525.3(LRP2):c.7747G>A (p.Val2583Met)
|
rs145201961
|
0.00063
|
|
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp)
|
rs199538589
|
0.00063
|
|
NM_004990.4(MARS1):c.617C>T (p.Pro206Leu)
|
rs138776588
|
0.00063
|
|
NM_005026.5(PIK3CD):c.2873G>A (p.Gly958Asp)
|
rs142907633
|
0.00063
|
|
NM_005529.7(HSPG2):c.10609G>A (p.Gly3537Arg)
|
rs145048530
|
0.00063
|
|
NM_005876.5(SPEG):c.3700C>T (p.Arg1234Trp)
|
rs55916864
|
0.00063
|
|
NM_006031.6(PCNT):c.7655G>A (p.Arg2552His)
|
rs199589423
|
0.00063
|
|
NM_006059.4(LAMC3):c.2987G>A (p.Arg996His)
|
rs113785045
|
0.00063
|
|
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly)
|
rs141619382
|
0.00063
|
|
NM_006254.4(PRKCD):c.1447C>T (p.Arg483Trp)
|
rs35891605
|
0.00063
|
|
NM_006348.5(COG5):c.1826T>C (p.Ile609Thr)
|
rs142433421
|
0.00063
|
|
NM_006420.3(ARFGEF2):c.3129G>T (p.Leu1043Phe)
|
rs148770948
|
0.00063
|
|
NM_006516.4(SLC2A1):c.276-7T>C
|
rs369273744
|
0.00063
|
|
NM_006892.4(DNMT3B):c.433-13C>T
|
rs182618840
|
0.00063
|
|
NM_012144.4(DNAI1):c.1173C>G (p.Ile391Met)
|
rs151097256
|
0.00063
|
|
NM_014140.4(SMARCAL1):c.863-9C>G
|
rs188833040
|
0.00063
|
|
NM_014208.3(DSPP):c.1073G>A (p.Arg358Lys)
|
rs201110163
|
0.00063
|
|
NM_014946.4(SPAST):c.134C>A (p.Pro45Gln)
|
rs121908517
|
0.00063
|
|
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=)
|
rs138724933
|
0.00063
|
|
NM_016734.3(PAX5):c.638C>T (p.Ser213Leu)
|
rs137870876
|
0.00063
|
|
NM_017534.6(MYH2):c.3884G>A (p.Arg1295His)
|
rs143341678
|
0.00063
|
|
NM_017563.5(IL17RD):c.392A>C (p.Lys131Thr)
|
rs184758350
|
0.00063
|
|
NM_017668.3(NDE1):c.386+9G>A
|
rs147174812
|
0.00063
|
|
NM_018100.4(EFHC1):c.64-5T>C
|
rs201860746
|
0.00063
|
|
NM_018249.6(CDK5RAP2):c.4733C>T (p.Ser1578Leu)
|
rs138510304
|
0.00063
|
|
NM_019066.5(MAGEL2):c.919C>T (p.Pro307Ser)
|
rs555920534
|
0.00063
|
|
NM_020066.5(FMN2):c.4068T>C (p.Val1356=)
|
rs141335669
|
0.00063
|
|
NM_022114.4(PRDM16):c.2786C>A (p.Pro929His)
|
rs145632008
|
0.00063
|
|
NM_022124.6(CDH23):c.1185C>T (p.Ser395=)
|
rs185105210
|
0.00063
|
|
NM_022436.3(ABCG5):c.1251G>A (p.Gln417=)
|
rs146801512
|
0.00063
|
|
NM_024570.4(RNASEH2B):c.455A>G (p.Asn152Ser)
|
rs146451037
|
0.00063
|
|
NM_024577.4(SH3TC2):c.1483A>G (p.Thr495Ala)
|
rs10077543
|
0.00063
|
|
NM_024753.5(TTC21B):c.1697A>G (p.His566Arg)
|
rs146320075
|
0.00063
|
|
NM_025074.7(FRAS1):c.969G>A (p.Val323=)
|
rs377333036
|
0.00063
|
|
NM_033028.5(BBS4):c.514A>G (p.Ile172Val)
|
rs145265395
|
0.00063
|
|
NM_033087.4(ALG2):c.348+6G>A
|
rs368075764
|
0.00063
|
|
NM_058246.4(DNAJB6):c.*610C>T
|
rs886062134
|
0.00063
|
|
NM_058246.4(DNAJB6):c.*934C>T
|
rs886062136
|
0.00063
|
|
NM_147196.3(TMIE):c.40G>A (p.Gly14Ser)
|
rs397517869
|
0.00063
|
|
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg)
|
rs144851946
|
0.00063
|
|
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr)
|
rs74315448
|
0.00063
|
|
NM_182919.4(TICAM1):c.238G>A (p.Val80Met)
|
rs199816697
|
0.00063
|
|
NM_201384.3(PLEC):c.10158G>A (p.Ala3386=)
|
rs373820763
|
0.00063
|
|
NM_201384.3(PLEC):c.7098G>T (p.Arg2366=)
|
rs79489944
|
0.00063
|
|
NM_207122.2(EXT2):c.1760C>T (p.Thr587Met)
|
rs138495222
|
0.00063
|
|
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr)
|
rs142358238
|
0.00062
|
|
NM_000053.4(ATP7B):c.1543+13C>T
|
rs200171850
|
0.00062
|
|
NM_000130.5(F5):c.3211C>T (p.His1071Tyr)
|
rs146408488
|
0.00062
|
|
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro)
|
rs180984980
|
0.00062
|
|
NM_000218.3(KCNQ1):c.1799C>T (p.Thr600Met)
|
rs34516117
|
0.00062
|
|
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp)
|
rs139544114
|
0.00062
|
|
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser)
|
rs138184115
|
0.00062
|
|
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=)
|
rs61755813
|
0.00062
|
|
NM_000392.5(ABCC2):c.4071G>C (p.Gln1357His)
|
rs148393425
|
0.00062
|
|
NM_000521.4(HEXB):c.1417+11C>T
|
rs146572414
|
0.00062
|
|
NM_000709.4(BCKDHA):c.1191C>T (p.Ala397=)
|
rs374403946
|
0.00062
|
|
NM_000719.7(CACNA1C):c.1707A>G (p.Ala569=)
|
rs375534041
|
0.00062
|
|
NM_001130987.2(DYSF):c.559G>A (p.Gly187Arg)
|
rs200970855
|
0.00062
|
|
NM_001173467.3(SP7):c.1272G>A (p.Glu424=)
|
rs182820275
|
0.00062
|
|
NM_001199397.3(NEK1):c.686A>G (p.Tyr229Cys)
|
rs61737748
|
0.00062
|
|
NM_001252024.2(TRPM1):c.507C>T (p.His169=)
|
rs201157794
|
0.00062
|
|
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala)
|
rs200118743
|
0.00062
|
|
NM_001267550.2(TTN):c.92294G>C (p.Arg30765Thr)
|
rs373099440
|
0.00062
|
|
NM_001283009.2(RTEL1):c.2824G>A (p.Asp942Asn)
|
rs116247954
|
0.00062
|
|
NM_001330078.2(NRXN1):c.1945A>G (p.Ile649Val)
|
rs200074974
|
0.00062
|
|
NM_001360016.2(G6PD):c.1245C>T (p.Pro415=)
|
rs147131392
|
0.00062
|
|
NM_001365088.1(SLC12A6):c.1164C>T (p.Asp388=)
|
rs145615604
|
0.00062
|
|
NM_001366110.1(PAX4):c.1013C>T (p.Ala338Val)
|
rs2233583
|
0.00062
|
|
NM_001378454.1(ALMS1):c.4024G>A (p.Val1342Ile)
|
rs751346260
|
0.00062
|
|
NM_001457.4(FLNB):c.6843C>T (p.Ile2281=)
|
rs140332932
|
0.00062
|
|
NM_002471.4(MYH6):c.5652C>T (p.Ala1884=)
|
rs200662317
|
0.00062
|
|
NM_002691.4(POLD1):c.455C>T (p.Ala152Val)
|
rs41563714
|
0.00062
|
|
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)
|
rs150233690
|
0.00062
|
|
NM_003049.4(SLC10A1):c.957G>A (p.Met319Ile)
|
rs149272163
|
0.00062
|
|
NM_003659.4(AGPS):c.1380A>C (p.Pro460=)
|
rs148418568
|
0.00062
|
|
NM_003850.3(SUCLA2):c.236C>T (p.Ser79Leu)
|
rs142289138
|
0.00062
|
|
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly)
|
rs147000526
|
0.00062
|
|
NM_004525.3(LRP2):c.11264-14C>G
|
rs377424162
|
0.00062
|
|
NM_004667.6(HERC2):c.9283G>T (p.Ala3095Ser)
|
rs142753406
|
0.00062
|
|
NM_005228.5(EGFR):c.3467A>C (p.His1156Pro)
|
rs149174093
|
0.00062
|
|
NM_005422.4(TECTA):c.1502C>T (p.Ser501Phe)
|
rs148426950
|
0.00062
|
|
NM_005529.7(HSPG2):c.732A>G (p.Thr244=)
|
rs139842104
|
0.00062
|
|
NM_005609.4(PYGM):c.1083C>T (p.Asp361=)
|
rs141959242
|
0.00062
|
|
NM_013382.7(POMT2):c.1701C>G (p.Pro567=)
|
rs151051452
|
0.00062
|
|
NM_015378.4(VPS13D):c.12140A>G (p.Asn4047Ser)
|
rs138906978
|
0.00062
|
|
NM_016356.5(DCDC2):c.1423G>A (p.Val475Met)
|
rs145154884
|
0.00062
|
|
NM_017721.5(CC2D1A):c.1192G>A (p.Val398Met)
|
rs201177183
|
0.00062
|
|
NM_017763.6(RNF43):c.1592G>A (p.Arg531His)
|
rs148619997
|
0.00062
|
|
NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met)
|
rs201032343
|
0.00062
|
|
NM_017950.4(CCDC40):c.2968G>A (p.Asp990Asn)
|
rs200958035
|
0.00062
|
|
NM_018979.4(WNK1):c.7021G>A (p.Gly2341Ser)
|
rs146042595
|
0.00062
|
|
NM_020297.4(ABCC9):c.2199-13G>A
|
rs201226082
|
0.00062
|
|
NM_020461.4(TUBGCP6):c.1193C>T (p.Ser398Leu)
|
rs142435821
|
0.00062
|
|
NM_021072.4(HCN1):c.1619-3T>C
|
rs376434225
|
0.00062
|
|
NM_024301.5(FKRP):c.969C>T (p.Arg323=)
|
rs532054402
|
0.00062
|
|
NM_030665.4(RAI1):c.1538A>G (p.Gln513Arg)
|
rs147091667
|
0.00062
|
|
NM_031220.4(PITPNM3):c.2355G>A (p.Pro785=)
|
rs146899730
|
0.00062
|
|
NM_031372.4(HNRNPDL):c.110A>C (p.Gln37Pro)
|
rs911762606
|
0.00062
|
|
NM_032730.5(RTN4IP1):c.335G>A (p.Gly112Glu)
|
rs143924605
|
0.00062
|
|
NM_198525.3(KIF7):c.2237G>A (p.Arg746Gln)
|
rs151317163
|
0.00062
|
|
NM_000018.4(ACADVL):c.1284G>A (p.Lys428=)
|
rs35501596
|
0.00061
|
|
NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe)
|
rs111391222
|
0.00061
|
|
NM_000091.5(COL4A3):c.2020+18A>C
|
rs374992426
|
0.00061
|
|
NM_000093.5(COL5A1):c.2564C>G (p.Pro855Arg)
|
rs150539264
|
0.00061
|
|
NM_000094.4(COL7A1):c.5217T>A (p.Pro1739=)
|
rs147611409
|
0.00061
|
|
NM_000094.4(COL7A1):c.6596C>T (p.Pro2199Leu)
|
rs143221297
|
0.00061
|
|
NM_000124.4(ERCC6):c.400C>T (p.Arg134Trp)
|
rs148095899
|
0.00061
|
|
NM_000130.5(F5):c.5589C>A (p.Pro1863=)
|
rs148772659
|
0.00061
|
|
NM_000235.4(LIPA):c.889A>G (p.Ser297Gly)
|
rs147426329
|
0.00061
|
|
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser)
|
rs138776684
|
0.00061
|
|
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp)
|
rs36210422
|
0.00061
|
|
NM_000245.4(MET):c.467C>T (p.Ser156Leu)
|
rs56311081
|
0.00061
|
|
NM_000283.4(PDE6B):c.2193+15C>T
|
rs376883350
|
0.00061
|
|
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser)
|
rs142704083
|
0.00061
|
|
NM_000393.5(COL5A2):c.3471+8A>T
|
rs367643805
|
0.00061
|
|
NM_000419.5(ITGA2B):c.799+15C>T
|
rs374469971
|
0.00061
|
|
NM_000426.4(LAMA2):c.3154A>G (p.Ser1052Gly)
|
rs149165006
|
0.00061
|
|
NM_000540.3(RYR1):c.443C>T (p.Thr148Ile)
|
rs151325948
|
0.00061
|
|
NM_000540.3(RYR1):c.9555-7C>G
|
rs376790946
|
0.00061
|
|
NM_000785.4(CYP27B1):c.1057C>G (p.Pro353Ala)
|
rs151335249
|
0.00061
|
|
NM_000875.5(IGF1R):c.2121C>T (p.Ala707=)
|
rs34129005
|
0.00061
|
|
NM_001009944.3(PKD1):c.4856C>T (p.Ser1619Phe)
|
rs146723506
|
0.00061
|
|
NM_001017995.3(SH3PXD2B):c.1602G>A (p.Gly534=)
|
rs144228973
|
0.00061
|
|
NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser)
|
rs202015519
|
0.00061
|
|
NM_001040108.2(MLH3):c.1234A>G (p.Lys412Glu)
|
rs61754769
|
0.00061
|
|
NM_001045.6(SLC6A4):c.12G>A (p.Thr4=)
|
rs114814153
|
0.00061
|
|
NM_001126108.2(SLC12A3):c.2285+8G>A
|
rs199854613
|
0.00061
|
|
NM_001126108.2(SLC12A3):c.36C>T (p.Asp12=)
|
rs117987946
|
0.00061
|
|
NM_001126121.2(SLC25A19):c.842T>G (p.Phe281Cys)
|
rs138376525
|
0.00061
|
|
NM_001130438.3(SPTAN1):c.7161-9C>T
|
rs187613754
|
0.00061
|
|
NM_001145860.2(POP1):c.74G>A (p.Gly25Asp)
|
rs61743394
|
0.00061
|
|
NM_001164508.2(NEB):c.18431A>G (p.His6144Arg)
|
rs34504204
|
0.00061
|
|
NM_001164508.2(NEB):c.20671C>T (p.Leu6891Phe)
|
rs182866658
|
0.00061
|
|
NM_001166114.2(PNPLA6):c.1935C>G (p.Arg645=)
|
rs138023728
|
0.00061
|
|
NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys)
|
rs139833874
|
0.00061
|
|
NM_001254.4(CDC6):c.640C>T (p.Arg214Trp)
|
rs147186134
|
0.00061
|
|
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala)
|
rs55945684
|
0.00061
|
|
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg)
|
rs190636272
|
0.00061
|
|
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys)
|
rs149470241
|
0.00061
|
|
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met)
|
rs142951505
|
0.00061
|
|
NM_001267550.2(TTN):c.39211+6C>T
|
rs187365142
|
0.00061
|
|
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala)
|
rs200771189
|
0.00061
|
|
NM_001291303.3(FAT4):c.11260A>G (p.Ser3754Gly)
|
rs79909102
|
0.00061
|
|
NM_001291303.3(FAT4):c.5792A>G (p.Tyr1931Cys)
|
rs139716832
|
0.00061
|
|
NM_001292063.2(OTOG):c.4641G>T (p.Glu1547Asp)
|
rs764159927
|
0.00061
|
|
NM_001292063.2(OTOG):c.6521A>G (p.Asn2174Ser)
|
rs368261417
|
0.00061
|
|
NM_001292063.2(OTOG):c.7324C>G (p.Leu2442Val)
|
rs573071858
|
0.00061
|
|
NM_001330078.2(NRXN1):c.-995T>C
|
rs200865985
|
0.00061
|
|
NM_001330260.2(SCN8A):c.1819G>A (p.Ala607Thr)
|
rs367949317
|
0.00061
|
|
NM_001365088.1(SLC12A6):c.3249G>A (p.Arg1083=)
|
rs149640638
|
0.00061
|
|
NM_001365276.2(TNXB):c.3322G>A (p.Val1108Met)
|
rs121912575
|
0.00061
|
|
NM_001365999.1(SZT2):c.9887G>T (p.Gly3296Val)
|
rs368272173
|
0.00061
|
|
NM_001367624.2(ZNF469):c.6829G>A (p.Val2277Ile)
|
rs760816769
|
0.00061
|
|
NM_001367624.2(ZNF469):c.8860T>C (p.Trp2954Arg)
|
rs557063759
|
0.00061
|
|
NM_001369.3(DNAH5):c.11231C>A (p.Thr3744Asn)
|
rs529225111
|
0.00061
|
|
NM_001372044.2(SHANK3):c.3257G>T (p.Gly1086Val)
|
rs767058690
|
0.00061
|
|
NM_001378120.1(MBD5):c.-831+9dup
|
rs796052705
|
0.00061
|
|
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu)
|
rs34995577
|
0.00061
|
|
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser)
|
rs199768782
|
0.00061
|
|
NM_001378615.1(CC2D2A):c.2774G>A (p.Arg925Gln)
|
rs200707391
|
0.00061
|
|
NM_001458.5(FLNC):c.4553A>G (p.Lys1518Arg)
|
rs201635205
|
0.00061
|
|
NM_001844.5(COL2A1):c.398C>A (p.Pro133His)
|
rs201234519
|
0.00061
|
|
NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu)
|
rs117583120
|
0.00061
|
|
NM_001851.6(COL9A1):c.353G>A (p.Arg118Gln)
|
rs143848379
|
0.00061
|
|
NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=)
|
rs147637674
|
0.00061
|
|
NM_001943.5(DSG2):c.852T>C (p.Asn284=)
|
rs62095193
|
0.00061
|
|
NM_002206.3(ITGA7):c.537G>A (p.Gly179=)
|
rs145463677
|
0.00061
|
|
NM_002292.4(LAMB2):c.816T>C (p.Tyr272=)
|
rs151251039
|
0.00061
|
|
NM_002334.4(LRP4):c.570C>T (p.Pro190=)
|
rs147353838
|
0.00061
|
|
NM_002474.3(MYH11):c.2049C>T (p.His683=)
|
rs150924100
|
0.00061
|
|
NM_002529.4(NTRK1):c.602C>A (p.Pro201His)
|
rs146201511
|
0.00061
|
|
NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys)
|
rs140512665
|
0.00061
|
|
NM_002661.5(PLCG2):c.2393A>G (p.Asn798Ser)
|
rs117077093
|
0.00061
|
|
NM_002691.4(POLD1):c.581C>G (p.Ser194Cys)
|
rs144656348
|
0.00061
|
|
NM_002693.3(POLG):c.1386G>A (p.Ser462=)
|
rs62640034
|
0.00061
|
|
NM_002900.3(RBP3):c.126G>A (p.Pro42=)
|
rs146175391
|
0.00061
|
|
NM_003060.4(SLC22A5):c.1441G>A (p.Val481Ile)
|
rs11568513
|
0.00061
|
|
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr)
|
rs140769107
|
0.00061
|
|
NM_003906.5(MCM3AP):c.3305C>T (p.Ala1102Val)
|
rs142784252
|
0.00061
|
|
NM_004369.4(COL6A3):c.8009C>T (p.Ala2670Val)
|
rs142851023
|
0.00061
|
|
NM_005051.3(QARS1):c.1760C>T (p.Ser587Phe)
|
rs144563810
|
0.00061
|
|
NM_005378.6(MYCN):c.8G>C (p.Ser3Thr)
|
rs373683425
|
0.00061
|
|
NM_005422.4(TECTA):c.2657A>G (p.Asn886Ser)
|
rs146175803
|
0.00061
|
|
NM_005502.4(ABCA1):c.3544G>A (p.Ala1182Thr)
|
rs143180998
|
0.00061
|
|
NM_005562.3(LAMC2):c.1318A>G (p.Ile440Val)
|
rs147889360
|
0.00061
|
|
NM_005883.3(APC2):c.4557G>A (p.Pro1519=)
|
rs111280997
|
0.00061
|
|
NM_005957.5(MTHFR):c.1032-6A>G
|
rs2066464
|
0.00061
|
|
NM_006412.4(AGPAT2):c.269G>A (p.Arg90His)
|
rs142176861
|
0.00061
|
|
NM_006662.3(SRCAP):c.7248C>T (p.Ser2416=)
|
rs138152469
|
0.00061
|
|
NM_006767.4(LZTR1):c.1723G>A (p.Asp575Asn)
|
rs139368531
|
0.00061
|
|
NM_006946.4(SPTBN2):c.6751C>T (p.Arg2251Trp)
|
rs150607879
|
0.00061
|
|
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp)
|
rs201503405
|
0.00061
|
|
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=)
|
rs142459158
|
0.00061
|
|
NM_012470.4(TNPO3):c.2741C>T (p.Ala914Val)
|
rs61756249
|
0.00061
|
|
NM_013382.7(POMT2):c.1903G>A (p.Val635Ile)
|
rs142299878
|
0.00061
|
|
NM_013435.3(RAX):c.24A>G (p.Pro8=)
|
rs771409497
|
0.00061
|
|
NM_014026.6(DCPS):c.87G>T (p.Glu29Asp)
|
rs147935593
|
0.00061
|
|
NM_014049.5(ACAD9):c.1022T>C (p.Leu341Ser)
|
rs141874052
|
0.00061
|
|
NM_014165.4(NDUFAF4):c.197A>G (p.Lys66Arg)
|
rs148667964
|
0.00061
|
|
NM_014244.5(ADAMTS2):c.1164G>A (p.Pro388=)
|
rs141348218
|
0.00061
|
|
NM_014363.6(SACS):c.13344C>T (p.Arg4448=)
|
rs200157359
|
0.00061
|
|
NM_014780.5(CUL7):c.2163T>C (p.Asp721=)
|
rs145572983
|
0.00061
|
|
NM_015102.5(NPHP4):c.2259C>T (p.Asp753=)
|
rs199628481
|
0.00061
|
|
NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=)
|
rs374146357
|
0.00061
|
|
NM_015627.3(LDLRAP1):c.284G>A (p.Arg95Gln)
|
rs139877665
|
0.00061
|
|
NM_015665.6(AAAS):c.270T>G (p.Phe90Leu)
|
rs140405180
|
0.00061
|
|
NM_016356.5(DCDC2):c.817C>T (p.Pro273Ser)
|
rs146787541
|
0.00061
|
|
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr)
|
rs191645600
|
0.00061
|
|
NM_017617.5(NOTCH1):c.6836C>T (p.Ala2279Val)
|
rs200370953
|
0.00061
|
|
NM_017739.4(POMGNT1):c.453G>A (p.Thr151=)
|
rs146121135
|
0.00061
|
|
NM_018062.4(FANCL):c.203G>C (p.Arg68Pro)
|
rs143819820
|
0.00061
|
|
NM_020435.4(GJC2):c.556G>T (p.Gly186Cys)
|
rs201277546
|
0.00061
|
|
NM_020717.5(SHROOM4):c.3944T>C (p.Ile1315Thr)
|
rs149300669
|
0.00061
|
|
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser)
|
rs202219507
|
0.00061
|
|
NM_022124.6(CDH23):c.9198+13C>T
|
rs375384238
|
0.00061
|
|
NM_024422.6(DSC2):c.2498G>A (p.Arg833His)
|
rs370325533
|
0.00061
|
|
NM_031220.4(PITPNM3):c.987G>A (p.Leu329=)
|
rs148451236
|
0.00061
|
|
NM_031935.3(HMCN1):c.15614G>A (p.Arg5205His)
|
rs150188026
|
0.00061
|
|
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe)
|
rs200816323
|
0.00061
|
|
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn)
|
rs117320408
|
0.00061
|
|
NM_057176.3(BSND):c.851G>A (p.Gly284Asp)
|
rs150426464
|
0.00061
|
|
NM_080473.5(GATA5):c.424T>C (p.Tyr142His)
|
rs111554140
|
0.00061
|
|
NM_080916.3(DGUOK):c.708-3T>C
|
rs370071744
|
0.00061
|
|
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys)
|
rs185678374
|
0.00061
|
|
NM_138691.3(TMC1):c.141T>A (p.Asp47Glu)
|
rs140388347
|
0.00061
|
|
NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln)
|
rs142896856
|
0.00061
|
|
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val)
|
rs141622697
|
0.00061
|
|
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser)
|
rs200204857
|
0.00061
|
|
NM_152564.5(VPS13B):c.11852T>C (p.Ile3951Thr)
|
rs73273219
|
0.00061
|
|
NM_173560.4(RFX6):c.2438G>C (p.Arg813Thr)
|
rs142162854
|
0.00061
|
|
NM_173630.4(RTTN):c.2568T>A (p.Ala856=)
|
rs370998068
|
0.00061
|
|
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val)
|
rs147638455
|
0.00061
|
|
NM_199334.5(THRA):c.577-4C>T
|
rs188965373
|
0.00061
|
|
NM_201384.3(PLEC):c.3588C>T (p.Asp1196=)
|
rs377059744
|
0.00061
|
|
NM_201384.3(PLEC):c.9049C>T (p.Arg3017Trp)
|
rs201041716
|
0.00061
|
|
NM_203447.4(DOCK8):c.494C>T (p.Ser165Leu)
|
rs146490788
|
0.00061
|
|
NM_203486.3(DLL3):c.153C>T (p.Ser51=)
|
rs373980582
|
0.00061
|
|
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr)
|
rs138607917
|
0.00061
|
|
NM_206933.4(USH2A):c.8575C>T (p.Arg2859Cys)
|
rs138087806
|
0.00061
|
|
NM_213655.5(WNK1):c.2360G>A (p.Arg787Gln)
|
rs550716144
|
0.00061
|
|
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=)
|
rs146692150
|
0.00060
|
|
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser)
|
rs189557655
|
0.00060
|
|
NM_000157.4(GBA1):c.1506-12C>T
|
rs368832292
|
0.00060
|
|
NM_000257.4(MYH7):c.2769C>T (p.Asn923=)
|
rs36211716
|
0.00060
|
|
NM_000426.4(LAMA2):c.6629T>C (p.Val2210Ala)
|
rs78880369
|
0.00060
|
|
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln)
|
rs137853242
|
0.00060
|
|
NM_000552.5(VWF):c.3719C>T (p.Pro1240Leu)
|
rs150576611
|
0.00060
|
|
NM_000554.6(CRX):c.28C>G (p.His10Asp)
|
rs139340178
|
0.00060
|
|
NM_000817.3(GAD1):c.1002+4T>G
|
rs139531653
|
0.00060
|
|
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser)
|
rs140852019
|
0.00060
|
|
NM_001040716.2(PC):c.496G>A (p.Val166Ile)
|
rs147697454
|
0.00060
|
|
NM_001080467.3(MYO5B):c.1590C>G (p.Asp530Glu)
|
rs200469007
|
0.00060
|
|
NM_001105206.3(LAMA4):c.196-15G>C
|
rs371906362
|
0.00060
|
|
NM_001109809.5(ZFP57):c.113G>A (p.Arg38Gln)
|
rs142917604
|
0.00060
|
|
NM_001142864.4(PIEZO1):c.3699+6C>T
|
rs147726156
|
0.00060
|
|
NM_001267550.2(TTN):c.29042-2A>C
|
rs6716782
|
0.00060
|
|
NM_001271938.2(MEGF8):c.3154T>C (p.Trp1052Arg)
|
rs202039332
|
0.00060
|
|
NM_001363711.2(DUOX2):c.2793T>C (p.His931=)
|
rs138306055
|
0.00060
|
|
NM_001363711.2(DUOX2):c.2794G>A (p.Asp932Asn)
|
rs147047438
|
0.00060
|
|
NM_001363711.2(DUOX2):c.2796C>T (p.Asp932=)
|
rs141644475
|
0.00060
|
|
NM_001369268.1(ACAN):c.1448G>A (p.Arg483His)
|
rs200950723
|
0.00060
|
|
NM_001378452.1(ITPR1):c.5163C>A (p.Asn1721Lys)
|
rs201937660
|
0.00060
|
|
NM_001448.3(GPC4):c.772C>T (p.Arg258Trp)
|
rs199910189
|
0.00060
|
|
NM_001458.5(FLNC):c.1519G>A (p.Gly507Arg)
|
rs189525930
|
0.00060
|
|
NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=)
|
rs139114389
|
0.00060
|
|
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)
|
rs191564916
|
0.00060
|
|
NM_002691.4(POLD1):c.883G>A (p.Val295Met)
|
rs199545019
|
0.00060
|
|
NM_003659.4(AGPS):c.637+13C>T
|
rs182602770
|
0.00060
|
|
NM_003737.4(DCHS1):c.7192G>T (p.Val2398Phe)
|
rs145939548
|
0.00060
|
|
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)
|
rs140736646
|
0.00060
|
|
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg)
|
rs143326964
|
0.00060
|
|
NM_005422.4(TECTA):c.2444C>T (p.Thr815Met)
|
rs111759871
|
0.00060
|
|
NM_005502.4(ABCA1):c.99A>G (p.Leu33=)
|
rs141151519
|
0.00060
|
|
NM_005506.4(SCARB2):c.424-4G>A
|
rs368869126
|
0.00060
|
|
NM_005726.6(TSFM):c.760C>T (p.Arg254Cys)
|
rs200132571
|
0.00060
|
|
NM_005876.5(SPEG):c.182G>A (p.Arg61Gln)
|
rs752331636
|
0.00060
|
|
NM_006059.4(LAMC3):c.3319G>A (p.Gly1107Arg)
|
rs144118534
|
0.00060
|
|
NM_006073.4(TRDN):c.277C>T (p.Arg93Cys)
|
rs370788759
|
0.00060
|
|
NM_006563.5(KLF1):c.478G>A (p.Glu160Lys)
|
rs772655521
|
0.00060
|
|
NM_007272.3(CTRC):c.640-14C>T
|
rs202049497
|
0.00060
|
|
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His)
|
rs28897677
|
0.00060
|
|
NM_012301.4(MAGI2):c.3706+5G>A
|
rs188293910
|
0.00060
|
|
NM_014339.7(IL17RA):c.978G>A (p.Thr326=)
|
rs143239201
|
0.00060
|
|
NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu)
|
rs147013767
|
0.00060
|
|
NM_014855.3(AP5Z1):c.1584C>T (p.Gly528=)
|
rs377310579
|
0.00060
|
|
NM_014855.3(AP5Z1):c.849C>T (p.Ala283=)
|
rs572271008
|
0.00060
|
|
NM_015915.5(ATL1):c.1200G>A (p.Lys400=)
|
rs144792471
|
0.00060
|
|
NM_017780.4(CHD7):c.2835+8T>C
|
rs202141372
|
0.00060
|
|
NM_017909.4(RMND1):c.795C>G (p.His265Gln)
|
rs150706976
|
0.00060
|
|
NM_018026.4(PACS1):c.2139C>T (p.Tyr713=)
|
rs61736585
|
0.00060
|
|
NM_019040.5(ELP4):c.*3528A>G
|
rs143185259
|
0.00060
|
|
NM_019844.4(SLCO1B3):c.1593A>G (p.Thr531=)
|
rs142694767
|
0.00060
|
|
NM_022114.4(PRDM16):c.934G>A (p.Asp312Asn)
|
rs191798831
|
0.00060
|
|
NM_024596.5(MCPH1):c.1480G>A (p.Ala494Thr)
|
rs183880522
|
0.00060
|
|
NM_030665.4(RAI1):c.4676G>A (p.Arg1559Gln)
|
rs141317462
|
0.00060
|
|
NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr)
|
rs200115167
|
0.00060
|
|
NM_032119.4(ADGRV1):c.4487A>G (p.Tyr1496Cys)
|
rs376401006
|
0.00060
|
|
NM_032119.4(ADGRV1):c.9635T>C (p.Ile3212Thr)
|
rs199833843
|
0.00060
|
|
NM_153603.4(COG7):c.2052G>A (p.Ser684=)
|
rs142744907
|
0.00060
|
|
NM_153676.4(USH1C):c.360C>T (p.Gly120=)
|
rs140869579
|
0.00060
|
|
NM_182961.4(SYNE1):c.5282A>G (p.Gln1761Arg)
|
rs146244669
|
0.00060
|
|
NM_182961.4(SYNE1):c.5421+9G>T
|
rs376218204
|
0.00060
|
|
NM_198578.4(LRRK2):c.5606T>C (p.Met1869Thr)
|
rs35602796
|
0.00060
|
|
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser)
|
rs186924074
|
0.00059
|
|
NM_000059.4(BRCA2):c.10121C>T (p.Thr3374Ile)
|
rs56309455
|
0.00059
|
|
NM_000222.3(KIT):c.1195G>A (p.Val399Ile)
|
rs143707288
|
0.00059
|
|
NM_000260.4(MYO7A):c.4916C>T (p.Thr1639Met)
|
rs200848641
|
0.00059
|
|
NM_000312.4(PROC):c.30C>T (p.Phe10=)
|
rs148490199
|
0.00059
|
|
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp)
|
rs142509759
|
0.00059
|
|
NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr)
|
rs185941768
|
0.00059
|
|
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg)
|
rs199676994
|
0.00059
|
|
NM_000350.3(ABCA4):c.4352+13G>A
|
rs61754048
|
0.00059
|
|
NM_000392.5(ABCC2):c.3561G>A (p.Glu1187=)
|
rs17216324
|
0.00059
|
|
NM_000431.4(MVK):c.441C>T (p.Ala147=)
|
rs138342076
|
0.00059
|
|
NM_000445.5(PLEC):c.133G>A (p.Gly45Ser)
|
rs201820569
|
0.00059
|
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
0.00059
|
|
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)
|
rs146176004
|
0.00059
|
|
NM_001004320.2(AGMO):c.1263+8del
|
rs770368536
|
0.00059
|
|
NM_001017995.3(SH3PXD2B):c.854C>T (p.Pro285Leu)
|
rs141428218
|
0.00059
|
|
NM_001110792.2(MECP2):c.411C>A (p.Ile137=)
|
rs146107517
|
0.00059
|
|
NM_001128178.3(NPHP1):c.1419A>G (p.Ile473Met)
|
rs147945403
|
0.00059
|
|
NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp)
|
rs146970014
|
0.00059
|
|
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=)
|
rs77705198
|
0.00059
|
|
NM_001142864.4(PIEZO1):c.6205G>A (p.Val2069Met)
|
rs199752762
|
0.00059
|
|
NM_001145026.2(PTPRQ):c.54+8G>A
|
rs372908419
|
0.00059
|
|
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys)
|
rs199506676
|
0.00059
|
|
NM_001286577.2(C2CD3):c.5404T>C (p.Tyr1802His)
|
rs141407711
|
0.00059
|
|
NM_001319074.4(RAX2):c.156G>A (p.Pro52=)
|
rs141804618
|
0.00059
|
|
NM_001330078.2(NRXN1):c.105C>A (p.Gly35=)
|
rs55640811
|
0.00059
|
|
NM_001349253.2(SCN11A):c.95C>T (p.Ala32Val)
|
rs150835546
|
0.00059
|
|
NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=)
|
rs200682458
|
0.00059
|
|
NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys)
|
rs187453572
|
0.00059
|
|
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr)
|
rs147499872
|
0.00059
|
|
NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=)
|
rs202150325
|
0.00059
|
|
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys)
|
rs146505280
|
0.00059
|
|
NM_001927.4(DES):c.934G>A (p.Asp312Asn)
|
rs34337334
|
0.00059
|
|
NM_001966.4(EHHADH):c.1006G>A (p.Ala336Thr)
|
rs146431168
|
0.00059
|
|
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala)
|
rs146989944
|
0.00059
|
|
NM_002485.5(NBN):c.788T>C (p.Phe263Ser)
|
rs147626427
|
0.00059
|
|
NM_003060.4(SLC22A5):c.414C>T (p.Asp138=)
|
rs150705788
|
0.00059
|
|
NM_003235.5(TG):c.455G>A (p.Arg152His)
|
rs114781869
|
0.00059
|
|
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)
|
rs111033222
|
0.00059
|
|
NM_004525.3(LRP2):c.4928G>A (p.Arg1643Gln)
|
rs147688332
|
0.00059
|
|
NM_004747.4(DLG5):c.3200G>A (p.Arg1067His)
|
rs201354863
|
0.00059
|
|
NM_005708.5(GPC6):c.710A>G (p.Lys237Arg)
|
rs201337600
|
0.00059
|
|
NM_005908.4(MANBA):c.531T>C (p.His177=)
|
rs149902075
|
0.00059
|
|
NM_006031.6(PCNT):c.6151-9C>T
|
rs200571944
|
0.00059
|
|
NM_006420.3(ARFGEF2):c.1185C>T (p.Asp395=)
|
rs140378669
|
0.00059
|
|
NM_006904.7(PRKDC):c.3709G>A (p.Ala1237Thr)
|
rs191531119
|
0.00059
|
|
NM_012144.4(DNAI1):c.40C>T (p.His14Tyr)
|
rs146501326
|
0.00059
|
|
NM_014112.5(TRPS1):c.3328C>T (p.Leu1110Phe)
|
rs148023627
|
0.00059
|
|
NM_014425.5(INVS):c.2313T>C (p.Asp771=)
|
rs147112151
|
0.00059
|
|
NM_015046.7(SETX):c.2282C>T (p.Ser761Leu)
|
rs200153024
|
0.00059
|
|
NM_016653.3(MAP3K20):c.1346G>A (p.Gly449Glu)
|
rs201693932
|
0.00059
|
|
NM_017760.7(NCAPG2):c.2249A>G (p.His750Arg)
|
rs199564693
|
0.00059
|
|
NM_018136.5(ASPM):c.8449G>T (p.Ala2817Ser)
|
rs117963393
|
0.00059
|
|
NM_018136.5(ASPM):c.9272G>A (p.Arg3091His)
|
rs147005963
|
0.00059
|
|
NM_020745.4(AARS2):c.1195A>C (p.Asn399His)
|
rs148363748
|
0.00059
|
|
NM_020779.4(WDR35):c.1227A>G (p.Thr409=)
|
rs148828104
|
0.00059
|
|
NM_021922.3(FANCE):c.1095A>C (p.Arg365Ser)
|
rs141268133
|
0.00059
|
|
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)
|
rs202052174
|
0.00059
|
|
NM_025000.4(DCAF17):c.724G>A (p.Ala242Thr)
|
rs149650431
|
0.00059
|
|
NM_025243.4(SLC19A3):c.187T>C (p.Tyr63His)
|
rs144817990
|
0.00059
|
|
NM_030632.3(ASXL3):c.1707C>T (p.Thr569=)
|
rs371181408
|
0.00059
|
|
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys)
|
rs199587998
|
0.00059
|
|
NM_032806.6(POMGNT2):c.561C>T (p.His187=)
|
rs147429438
|
0.00059
|
|
NM_172245.4(CSF2RA):c.191A>G (p.Asp64Gly)
|
rs150743648
|
0.00059
|
|
NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=)
|
rs150905950
|
0.00059
|
|
NM_000018.4(ACADVL):c.1824C>T (p.Ile608=)
|
rs146115467
|
0.00058
|
|
NM_000022.4(ADA):c.606+10G>A
|
rs201045221
|
0.00058
|
|
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=)
|
rs140263823
|
0.00058
|
|
NM_000035.4(ALDOB):c.525C>T (p.Ala175=)
|
rs144196914
|
0.00058
|
|
NM_000039.3(APOA1):c.562G>T (p.Ala188Ser)
|
rs140770089
|
0.00058
|
|
NM_000081.4(LYST):c.2363+10dup
|
rs760632806
|
0.00058
|
|
NM_000091.5(COL4A3):c.4494C>G (p.Thr1498=)
|
rs200454769
|
0.00058
|
|
NM_000182.5(HADHA):c.1212G>C (p.Val404=)
|
rs116396996
|
0.00058
|
|
NM_000198.4(HSD3B2):c.280G>C (p.Glu94Gln)
|
rs6211
|
0.00058
|
|
NM_000208.4(INSR):c.1550A>G (p.Glu517Gly)
|
rs147671523
|
0.00058
|
|
NM_000245.4(MET):c.406G>A (p.Val136Ile)
|
rs199701987
|
0.00058
|
|
NM_000260.4(MYO7A):c.4667C>T (p.Pro1556Leu)
|
rs150654627
|
0.00058
|
|
NM_000334.4(SCN4A):c.2188G>A (p.Val730Met)
|
rs113462659
|
0.00058
|
|
NM_000373.4(UMPS):c.126C>A (p.Gly42=)
|
rs143828400
|
0.00058
|
|
NM_000382.3(ALDH3A2):c.1398C>T (p.Leu466=)
|
rs150927045
|
0.00058
|
|
NM_000497.4(CYP11B1):c.50C>T (p.Ser17Phe)
|
rs142591816
|
0.00058
|
|
NM_000512.5(GALNS):c.1242+3A>G
|
rs377067312
|
0.00058
|
|
NM_000531.6(OTC):c.298+5G>C
|
rs72554348
|
0.00058
|
|
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val)
|
rs34390345
|
0.00058
|
|
NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp)
|
rs138682847
|
0.00058
|
|
NM_000817.3(GAD1):c.399T>C (p.Asp133=)
|
rs112737041
|
0.00058
|
|
NM_001002755.4(NFU1):c.167-13T>G
|
rs181762580
|
0.00058
|
|
NM_001004127.3(ALG11):c.802C>A (p.Leu268Ile)
|
rs148434423
|
0.00058
|
|
NM_001006658.3(CR2):c.1676G>A (p.Gly559Glu)
|
rs143614333
|
0.00058
|
|
NM_001010874.5(TECRL):c.454A>G (p.Thr152Ala)
|
rs143746083
|
0.00058
|
|
NM_001017420.3(ESCO2):c.929A>T (p.Glu310Val)
|
rs145734811
|
0.00058
|
|
NM_001032283.3(TMPO):c.565+2368G>A
|
rs138295270
|
0.00058
|
|
NM_001033855.3(DCLRE1C):c.1602C>T (p.Ser534=)
|
rs61745540
|
0.00058
|
|
NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=)
|
rs113422365
|
0.00058
|
|
NM_001039141.3(TRIOBP):c.6771G>A (p.Gln2257=)
|
rs200793989
|
0.00058
|
|
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu)
|
rs17881753
|
0.00058
|
|
NM_001077418.3(TMEM231):c.129C>T (p.Phe43=)
|
rs377440297
|
0.00058
|
|
NM_001079.4(ZAP70):c.1025T>C (p.Ile342Thr)
|
rs142702703
|
0.00058
|
|
NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys)
|
rs199422322
|
0.00058
|
|
NM_001134831.2(AHI1):c.1533T>G (p.Val511=)
|
rs373669500
|
0.00058
|
|
NM_001142864.4(PIEZO1):c.4766C>T (p.Thr1589Ile)
|
rs534283978
|
0.00058
|
|
NM_001142864.4(PIEZO1):c.6905G>A (p.Arg2302His)
|
rs200555745
|
0.00058
|
|
NM_001164508.2(NEB):c.20835G>A (p.Pro6945=)
|
rs186244044
|
0.00058
|
|
NM_001170629.2(CHD8):c.6085G>A (p.Glu2029Lys)
|
rs145300090
|
0.00058
|
|
NM_001177701.3(IFT27):c.157G>A (p.Asp53Asn)
|
rs142815512
|
0.00058
|
|
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=)
|
rs146300431
|
0.00058
|
|
NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile)
|
rs200103997
|
0.00058
|
|
NM_001267550.2(TTN):c.25481G>A (p.Arg8494Gln)
|
rs201418615
|
0.00058
|
|
NM_001363118.2(SLC52A2):c.535G>A (p.Gly179Ser)
|
rs151081625
|
0.00058
|
|
NM_001367624.2(ZNF469):c.1088C>T (p.Ser363Leu)
|
rs771000169
|
0.00058
|
|
NM_001369.3(DNAH5):c.12878G>A (p.Ser4293Asn)
|
rs140279971
|
0.00058
|
|
NM_001369.3(DNAH5):c.13175T>G (p.Phe4392Cys)
|
rs145400611
|
0.00058
|
|
NM_001378454.1(ALMS1):c.11584T>C (p.Ser3862Pro)
|
rs202227966
|
0.00058
|
|
NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln)
|
rs201673771
|
0.00058
|
|
NM_001382347.1(MYO5A):c.4432C>T (p.Pro1478Ser)
|
rs147898420
|
0.00058
|
|
NM_001395413.1(POR):c.1806+12G>A
|
rs371432868
|
0.00058
|
|
NM_001481.3(GAS8):c.841G>C (p.Asp281His)
|
rs139167960
|
0.00058
|
|
NM_001558.4(IL10RA):c.320G>A (p.Arg107Gln)
|
rs145949718
|
0.00058
|
|
NM_001609.4(ACADSB):c.1228+8G>C
|
rs202191462
|
0.00058
|
|
NM_001875.5(CPS1):c.2025C>T (p.Ala675=)
|
rs143913650
|
0.00058
|
|
NM_001966.4(EHHADH):c.1068C>T (p.His356=)
|
rs142166617
|
0.00058
|
|
NM_002334.4(LRP4):c.1194A>G (p.Glu398=)
|
rs138589242
|
0.00058
|
|
NM_002617.4(PEX10):c.896C>T (p.Ala299Val)
|
rs78620392
|
0.00058
|
|
NM_002618.4(PEX13):c.325C>T (p.Arg109Cys)
|
rs143972531
|
0.00058
|
|
NM_002972.4(SBF1):c.3157C>T (p.Arg1053Trp)
|
rs202156491
|
0.00058
|
|
NM_003480.4(MFAP5):c.12G>A (p.Leu4=)
|
rs148879406
|
0.00058
|
|
NM_003560.4(PLA2G6):c.1428-8C>T
|
rs370288820
|
0.00058
|
|
NM_003705.5(SLC25A12):c.2015del (p.Ala672fs)
|
rs780650245
|
0.00058
|
|
NM_003839.4(TNFRSF11A):c.1805A>G (p.Glu602Gly)
|
rs200750073
|
0.00058
|
|
NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly)
|
rs372480044
|
0.00058
|
|
NM_004239.4(TRIP11):c.5887G>A (p.Ala1963Thr)
|
rs61742059
|
0.00058
|
|
NM_004329.3(BMPR1A):c.1419T>G (p.Val473=)
|
rs145756629
|
0.00058
|
|
NM_004360.5(CDH1):c.2104G>A (p.Glu702Lys)
|
rs149127230
|
0.00058
|
|
NM_005068.3(SIM1):c.2119G>C (p.Asp707His)
|
rs74726213
|
0.00058
|
|
NM_005220.3(DLX3):c.82G>T (p.Asp28Tyr)
|
rs147702169
|
0.00058
|
|
NM_005609.4(PYGM):c.182G>A (p.Arg61His)
|
rs145514333
|
0.00058
|
|
NM_005989.4(AKR1D1):c.49A>G (p.Ser17Gly)
|
rs143960528
|
0.00058
|
|
NM_006031.6(PCNT):c.3549C>T (p.Ile1183=)
|
rs139383288
|
0.00058
|
|
NM_006493.4(CLN5):c.459G>A (p.Met153Ile)
|
rs144656959
|
0.00058
|
|
NM_006950.3(SYN1):c.1615G>A (p.Gly539Ser)
|
rs794727076
|
0.00058
|
|
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr)
|
rs55808233
|
0.00058
|
|
NM_012338.4(TSPAN12):c.181C>T (p.Pro61Ser)
|
rs145449060
|
0.00058
|
|
NM_012472.6(DNAAF11):c.1245A>G (p.Lys415=)
|
rs149631064
|
0.00058
|
|
NM_013266.4(CTNNA3):c.1900G>A (p.Glu634Lys)
|
rs77165728
|
0.00058
|
|
NM_014425.5(INVS):c.2386C>G (p.Gln796Glu)
|
rs147731667
|
0.00058
|
|
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu)
|
rs150532677
|
0.00058
|
|
NM_016239.4(MYO15A):c.7984C>G (p.Leu2662Val)
|
rs200930743
|
0.00058
|
|
NM_016599.5(MYOZ2):c.488T>C (p.Leu163Ser)
|
rs143345726
|
0.00058
|
|
NM_017617.5(NOTCH1):c.3835C>T (p.Arg1279Cys)
|
rs182330532
|
0.00058
|
|
NM_017617.5(NOTCH1):c.7606G>A (p.Val2536Ile)
|
rs111627256
|
0.00058
|
|
NM_018897.3(DNAH7):c.5360A>G (p.Asp1787Gly)
|
rs374415212
|
0.00058
|
|
NM_018979.4(WNK1):c.578C>A (p.Pro193Gln)
|
rs72647372
|
0.00058
|
|
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr)
|
rs148616219
|
0.00058
|
|
NM_020247.5(COQ8A):c.67G>A (p.Val23Met)
|
rs35582308
|
0.00058
|
|
NM_020987.5(ANK3):c.4826C>T (p.Thr1609Met)
|
rs148024054
|
0.00058
|
|
NM_022114.4(PRDM16):c.38-14G>A
|
rs368409902
|
0.00058
|
|
NM_022455.5(NSD1):c.3389A>G (p.Glu1130Gly)
|
rs113856002
|
0.00058
|
|
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro)
|
rs149522412
|
0.00058
|
|
NM_024685.4(BBS10):c.1436C>A (p.Ala479Glu)
|
rs138434761
|
0.00058
|
|
NM_032578.4(MYPN):c.1130G>A (p.Arg377Gln)
|
rs147596628
|
0.00058
|
|
NM_033022.4(RPS24):c.-4C>T
|
rs370476367
|
0.00058
|
|
NM_052859.4(RFT1):c.47C>G (p.Ser16Cys)
|
rs148716754
|
0.00058
|
|
NM_080424.4(SP110):c.1591-9C>T
|
rs202101309
|
0.00058
|
|
NM_133259.4(LRPPRC):c.1678A>T (p.Ile560Leu)
|
rs144826521
|
0.00058
|
|
NM_133459.4(CCBE1):c.101C>A (p.Thr34Asn)
|
rs191999971
|
0.00058
|
|
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe)
|
rs201432731
|
0.00058
|
|
NM_144997.7(FLCN):c.871+47G>A
|
rs142934950
|
0.00058
|
|
NM_152296.5(ATP1A3):c.2653G>A (p.Val885Ile)
|
rs149600313
|
0.00058
|
|
NM_173477.5(USH1G):c.1340G>A (p.Arg447Gln)
|
rs201359669
|
0.00058
|
|
NM_182914.3(SYNE2):c.10494A>G (p.Thr3498=)
|
rs201000414
|
0.00058
|
|
NM_182961.4(SYNE1):c.1391A>G (p.His464Arg)
|
rs141397112
|
0.00058
|
|
NM_182961.4(SYNE1):c.3074A>T (p.Asp1025Val)
|
rs143093185
|
0.00058
|
|
NM_182961.4(SYNE1):c.5807A>G (p.His1936Arg)
|
rs112744561
|
0.00058
|
|
NM_198252.3(GSN):c.1555G>A (p.Ala519Thr)
|
rs147554026
|
0.00058
|
|
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg)
|
rs34778348
|
0.00058
|
|
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu)
|
rs115403785
|
0.00058
|
|
NM_213607.3(CCDC103):c.275C>T (p.Pro92Leu)
|
rs142342712
|
0.00058
|
|
NR_003051.3(RMRP):n.-12A>C
|
rs372044910
|
0.00058
|
|
NM_000037.4(ANK1):c.1483A>C (p.Asn495His)
|
rs143839208
|
0.00057
|
|
NM_000048.4(ASL):c.399G>A (p.Ser133=)
|
rs141584041
|
0.00057
|
|
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His)
|
rs144797861
|
0.00057
|
|
NM_000092.5(COL4A4):c.4185G>A (p.Gly1395=)
|
rs55978207
|
0.00057
|
|
NM_000141.5(FGFR2):c.759T>G (p.Pro253=)
|
rs3135755
|
0.00057
|
|
NM_000155.4(GALT):c.687+9G>C
|
rs117998880
|
0.00057
|
|
NM_000157.4(GBA1):c.474C>T (p.Ile158=)
|
rs147411159
|
0.00057
|
|
NM_000180.4(GUCY2D):c.1537C>T (p.Leu513Phe)
|
rs61749682
|
0.00057
|
|
NM_000203.5(IDUA):c.1118A>C (p.Asn373Thr)
|
rs140564189
|
0.00057
|
|
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser)
|
rs113663584
|
0.00057
|
|
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile)
|
rs149425237
|
0.00057
|
|
NM_000335.5(SCN5A):c.568C>G (p.Arg190Gly)
|
rs199473068
|
0.00057
|
|
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr)
|
rs145136257
|
0.00057
|
|
NM_000361.3(THBD):c.1483C>T (p.Pro495Ser)
|
rs1800578
|
0.00057
|
|
NM_000392.5(ABCC2):c.3521G>A (p.Arg1174His)
|
rs139188247
|
0.00057
|
|
NM_000460.4(THPO):c.639T>A (p.Thr213=)
|
rs1042348
|
0.00057
|
|
NM_000540.3(RYR1):c.14070G>A (p.Thr4690=)
|
rs113058779
|
0.00057
|
|
NM_000540.3(RYR1):c.2091C>T (p.Ala697=)
|
rs138704724
|
0.00057
|
|
NM_000787.4(DBH):c.165G>A (p.Pro55=)
|
rs139591190
|
0.00057
|
|
NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys)
|
rs376283361
|
0.00057
|
|
NM_001018115.3(FANCD2):c.3877G>A (p.Val1293Ile)
|
rs138398760
|
0.00057
|
|
NM_001035.3(RYR2):c.3230T>C (p.Val1077Ala)
|
rs202176504
|
0.00057
|
|
NM_001040716.2(PC):c.3107G>A (p.Arg1036His)
|
rs141237842
|
0.00057
|
|
NM_001042631.3(SDHAF1):c.334C>T (p.Pro112Ser)
|
rs78119534
|
0.00057
|
|
NM_001080.3(ALDH5A1):c.183C>G (p.Thr61=)
|
rs776791710
|
0.00057
|
|
NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala)
|
rs201414940
|
0.00057
|
|
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=)
|
rs374749004
|
0.00057
|
|
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile)
|
rs147056383
|
0.00057
|
|
NM_001170629.2(CHD8):c.1407T>C (p.Ile469=)
|
rs190978463
|
0.00057
|
|
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met)
|
rs192001910
|
0.00057
|
|
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser)
|
rs192766485
|
0.00057
|
|
NM_001267550.2(TTN):c.49357C>A (p.Pro16453Thr)
|
rs200121902
|
0.00057
|
|
NM_001289104.2(PRKCSH):c.454C>T (p.Arg152Trp)
|
rs151207349
|
0.00057
|
|
NM_001367624.2(ZNF469):c.6326A>G (p.Asp2109Gly)
|
rs755640019
|
0.00057
|
|
NM_001369.3(DNAH5):c.11570+124G>C
|
rs543104462
|
0.00057
|
|
NM_001374736.1(DST):c.12043A>T (p.Ile4015Phe)
|
rs201249286
|
0.00057
|
|
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His)
|
rs201252809
|
0.00057
|
|
NM_001378615.1(CC2D2A):c.2945G>A (p.Arg982His)
|
rs150093365
|
0.00057
|
|
NM_001458.5(FLNC):c.2390-8C>G
|
rs146063718
|
0.00057
|
|
NM_001848.3(COL6A1):c.993C>T (p.Asp331=)
|
rs373948031
|
0.00057
|
|
NM_001849.4(COL6A2):c.1437T>C (p.Ala479=)
|
rs149077114
|
0.00057
|
|
NM_002087.3(GRN):c.-45C>G
|
rs563336550
|
0.00057
|
|
NM_002474.3(MYH11):c.12G>A (p.Lys4=)
|
rs112650390
|
0.00057
|
|
NM_002972.4(SBF1):c.5197C>T (p.Arg1733Cys)
|
rs199972466
|
0.00057
|
|
NM_004064.5(CDKN1B):c.356T>C (p.Ile119Thr)
|
rs142833529
|
0.00057
|
|
NM_004568.6(SERPINB6):c.121G>A (p.Val41Ile)
|
rs140220538
|
0.00057
|
|
NM_005445.4(SMC3):c.1280A>G (p.Lys427Arg)
|
rs142524280
|
0.00057
|
|
NM_006005.3(WFS1):c.1153G>A (p.Glu385Lys)
|
rs71524353
|
0.00057
|
|
NM_006904.7(PRKDC):c.11698C>G (p.Leu3900Val)
|
rs201214138
|
0.00057
|
|
NM_012254.3(SLC27A5):c.1338G>A (p.Gly446=)
|
rs148459550
|
0.00057
|
|
NM_015272.5(RPGRIP1L):c.*1584G>T
|
rs151226475
|
0.00057
|
|
NM_017617.5(NOTCH1):c.6291G>A (p.Pro2097=)
|
rs201987555
|
0.00057
|
|
NM_017827.4(SARS2):c.352C>T (p.Arg118Trp)
|
rs147412052
|
0.00057
|
|
NM_018060.4(IARS2):c.479T>C (p.Ile160Thr)
|
rs149036509
|
0.00057
|
|
NM_018249.6(CDK5RAP2):c.4039C>G (p.Leu1347Val)
|
rs144012972
|
0.00057
|
|
NM_019098.5(CNGB3):c.319G>A (p.Gly107Arg)
|
rs146688972
|
0.00057
|
|
NM_019892.6(INPP5E):c.469G>T (p.Gly157Trp)
|
rs78211353
|
0.00057
|
|
NM_020376.4(PNPLA2):c.399C>T (p.Asn133=)
|
rs143992505
|
0.00057
|
|
NM_022114.4(PRDM16):c.2449G>A (p.Gly817Ser)
|
rs375308440
|
0.00057
|
|
NM_022124.6(CDH23):c.3927G>A (p.Glu1309=)
|
rs115398922
|
0.00057
|
|
NM_024301.5(FKRP):c.531G>A (p.Glu177=)
|
rs768007208
|
0.00057
|
|
NM_025000.4(DCAF17):c.1030T>C (p.Trp344Arg)
|
rs78488864
|
0.00057
|
|
NM_032237.5(POMK):c.565A>G (p.Ile189Val)
|
rs149297443
|
0.00057
|
|
NM_032520.5(GNPTG):c.7G>A (p.Ala3Thr)
|
rs914207699
|
0.00057
|
|
NM_032793.5(MFSD2A):c.942C>T (p.Asn314=)
|
rs147123833
|
0.00057
|
|
NM_033305.3(VPS13A):c.9274C>T (p.Arg3092Cys)
|
rs146574121
|
0.00057
|
|
NM_052867.4(NALCN):c.3843G>A (p.Thr1281=)
|
rs151200877
|
0.00057
|
|
NM_052989.3(IFT122):c.3487T>A (p.Phe1163Ile)
|
rs200606803
|
0.00057
|
|
NM_080473.5(GATA5):c.287C>G (p.Ala96Gly)
|
rs113823160
|
0.00057
|
|
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys)
|
rs116164106
|
0.00057
|
|
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile)
|
rs149111536
|
0.00057
|
|
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu)
|
rs150838488
|
0.00057
|
|
NM_173076.3(ABCA12):c.3949A>G (p.Met1317Val)
|
rs145178648
|
0.00057
|
|
NM_178857.6(RP1L1):c.324_325insT (p.Pro109fs)
|
rs138816053
|
0.00057
|
|
NM_181426.2(CCDC39):c.900T>A (p.His300Gln)
|
rs201684898
|
0.00057
|
|
NM_182548.4(LHFPL5):c.476G>A (p.Arg159His)
|
rs139179263
|
0.00057
|
|
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala)
|
rs117461489
|
0.00057
|
|
NM_201596.3(CACNB2):c.1592G>A (p.Arg531His)
|
rs184280124
|
0.00057
|
|
NM_206933.4(USH2A):c.6989A>G (p.Glu2330Gly)
|
rs138992047
|
0.00057
|
|
NM_000017.4(ACADS):c.669G>A (p.Thr223=)
|
rs17848089
|
0.00056
|
|
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser)
|
rs35130237
|
0.00056
|
|
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly)
|
rs148725540
|
0.00056
|
|
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr)
|
rs146572883
|
0.00056
|
|
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp)
|
rs138828590
|
0.00056
|
|
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile)
|
rs147604227
|
0.00056
|
|
NM_000057.4(BLM):c.968A>G (p.Lys323Arg)
|
rs146504061
|
0.00056
|
|
NM_000071.3(CBS):c.215A>T (p.Lys72Ile)
|
rs192232907
|
0.00056
|
|
NM_000135.4(FANCA):c.3514-13G>A
|
rs200270574
|
0.00056
|
|
NM_000152.5(GAA):c.1438-9G>A
|
rs202211401
|
0.00056
|
|
NM_000152.5(GAA):c.2417C>T (p.Thr806Met)
|
rs139850074
|
0.00056
|
|
NM_000213.5(ITGB4):c.3427A>G (p.Ile1143Val)
|
rs149481974
|
0.00056
|
|
NM_000215.4(JAK3):c.2152G>C (p.Val718Leu)
|
rs146837396
|
0.00056
|
|
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val)
|
rs77331749
|
0.00056
|
|
NM_000263.4(NAGLU):c.353C>T (p.Pro118Leu)
|
rs530062090
|
0.00056
|
|
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp)
|
rs201217064
|
0.00056
|
|
NM_000313.4(PROS1):c.76+7A>G
|
rs201928951
|
0.00056
|
|
NM_000327.4(ROM1):c.940G>A (p.Gly314Arg)
|
rs141919268
|
0.00056
|
|
NM_000341.4(SLC3A1):c.1767C>T (p.Ile589=)
|
rs142141929
|
0.00056
|
|
NM_000355.4(TCN2):c.784G>C (p.Glu262Gln)
|
rs61743653
|
0.00056
|
|
NM_000360.4(TH):c.1398C>T (p.Ile466=)
|
rs118175546
|
0.00056
|
|
NM_000392.5(ABCC2):c.2613A>G (p.Glu871=)
|
rs76302654
|
0.00056
|
|
NM_000410.4(HFE):c.884T>C (p.Val295Ala)
|
rs143175221
|
0.00056
|
|
NM_000426.4(LAMA2):c.7300+10T>A
|
rs200469923
|
0.00056
|
|
NM_000492.4(CFTR):c.*2G>A
|
rs150914702
|
0.00056
|
|
NM_000492.4(CFTR):c.2245C>T (p.Leu749=)
|
rs151235408
|
0.00056
|
|
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=)
|
rs368834616
|
0.00056
|
|
NM_000702.4(ATP1A2):c.836G>A (p.Arg279Gln)
|
rs373178892
|
0.00056
|
|
NM_000987.5(RPL26):c.128A>G (p.Asn43Ser)
|
rs149055327
|
0.00056
|
|
NM_001012339.3(DNAJC21):c.370G>C (p.Glu124Gln)
|
rs139629564
|
0.00056
|
|
NM_001042545.2(LTBP4):c.123C>T (p.Cys41=)
|
rs370611661
|
0.00056
|
|
NM_001159773.2(CANT1):c.1063G>A (p.Asp355Asn)
|
rs145516713
|
0.00056
|
|
NM_001160372.4(TRAPPC9):c.3175G>A (p.Ala1059Thr)
|
rs150200902
|
0.00056
|
|
NM_001267550.2(TTN):c.296-14T>C
|
rs199951296
|
0.00056
|
|
NM_001267550.2(TTN):c.71841G>C (p.Lys23947Asn)
|
rs56019808
|
0.00056
|
|
NM_001291303.3(FAT4):c.12769G>A (p.Glu4257Lys)
|
rs143513466
|
0.00056
|
|
NM_001363711.2(DUOX2):c.2906G>A (p.Arg969Gln)
|
rs146664125
|
0.00056
|
|
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys)
|
rs199692186
|
0.00056
|
|
NM_001367624.2(ZNF469):c.1094C>T (p.Pro365Leu)
|
rs567183966
|
0.00056
|
|
NM_001367624.2(ZNF469):c.11318G>A (p.Arg3773Gln)
|
rs571622809
|
0.00056
|
|
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=)
|
rs371086728
|
0.00056
|
|
NM_001379180.1(ESRRB):c.*1535G>A
|
rs200237229
|
0.00056
|
|
NM_001384474.1(LOXHD1):c.889A>C (p.Thr297Pro)
|
rs117747744
|
0.00056
|
|
NM_001457.4(FLNB):c.4040A>G (p.Asn1347Ser)
|
rs146093652
|
0.00056
|
|
NM_001605.3(AARS1):c.600C>T (p.Ala200=)
|
rs150080663
|
0.00056
|
|
NM_001844.5(COL2A1):c.195C>T (p.Asp65=)
|
rs202210896
|
0.00056
|
|
NM_002386.4(MC1R):c.456C>A (p.Tyr152Ter)
|
rs201326893
|
0.00056
|
|
NM_002474.3(MYH11):c.429G>A (p.Lys143=)
|
rs200672270
|
0.00056
|
|
NM_002693.3(POLG):c.1275C>T (p.Ala425=)
|
rs147404477
|
0.00056
|
|
NM_002693.3(POLG):c.678G>C (p.Gln226His)
|
rs147282197
|
0.00056
|
|
NM_002693.3(POLG):c.798G>T (p.Val266=)
|
rs143631183
|
0.00056
|
|
NM_003036.4(SKI):c.1528G>A (p.Ala510Thr)
|
rs61735580
|
0.00056
|
|
NM_003060.4(SLC22A5):c.1142T>C (p.Met381Thr)
|
rs149730454
|
0.00056
|
|
NM_003108.4(SOX11):c.709C>G (p.Leu237Val)
|
rs140772793
|
0.00056
|
|
NM_003193.5(TBCE):c.833+8G>T
|
rs372236046
|
0.00056
|
|
NM_003482.4(KMT2D):c.11886A>G (p.Gln3962=)
|
rs180784366
|
0.00056
|
|
NM_003907.3(EIF2B5):c.1956C>T (p.Phe652=)
|
rs149264256
|
0.00056
|
|
NM_004006.3(DMD):c.8436T>C (p.Leu2812=)
|
rs139365076
|
0.00056
|
|
NM_004171.4(SLC1A2):c.16G>A (p.Gly6Ser)
|
rs145827578
|
0.00056
|
|
NM_004706.4(ARHGEF1):c.-17C>T
|
rs545895111
|
0.00056
|
|
NM_004946.3(DOCK2):c.2939T>C (p.Ile980Thr)
|
rs148694888
|
0.00056
|
|
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp)
|
rs140929639
|
0.00056
|
|
NM_005045.4(RELN):c.3147-4A>G
|
rs375230548
|
0.00056
|
|
NM_005373.3(MPL):c.1488C>T (p.Thr496=)
|
rs140091584
|
0.00056
|
|
NM_005448.2(BMP15):c.202C>T (p.Arg68Trp)
|
rs104894763
|
0.00056
|
|
NM_005477.3(HCN4):c.2739G>A (p.Ala913=)
|
rs373411041
|
0.00056
|
|
NM_005529.7(HSPG2):c.6541G>A (p.Ala2181Thr)
|
rs143109401
|
0.00056
|
|
NM_005544.3(IRS1):c.3406G>A (p.Glu1136Lys)
|
rs200142054
|
0.00056
|
|
NM_005787.6(ALG3):c.222C>T (p.Tyr74=)
|
rs200875721
|
0.00056
|
|
NM_006031.6(PCNT):c.2866G>A (p.Asp956Asn)
|
rs146728385
|
0.00056
|
|
NM_006206.6(PDGFRA):c.1280C>T (p.Ser427Leu)
|
rs61735621
|
0.00056
|
|
NM_006348.5(COG5):c.1211A>G (p.Gln404Arg)
|
rs189560910
|
0.00056
|
|
NM_006371.5(CRTAP):c.655G>A (p.Gly219Ser)
|
rs145048208
|
0.00056
|
|
NM_006946.4(SPTBN2):c.92C>T (p.Ser31Leu)
|
rs147766428
|
0.00056
|
|
NM_012096.3(APPL1):c.1961A>G (p.Asn654Ser)
|
rs144769112
|
0.00056
|
|
NM_014363.6(SACS):c.7165G>A (p.Val2389Met)
|
rs142869943
|
0.00056
|
|
NM_015175.3(NBEAL2):c.6352G>A (p.Val2118Ile)
|
rs146270553
|
0.00056
|
|
NM_015346.4(ZFYVE26):c.5401G>A (p.Ala1801Thr)
|
rs138965635
|
0.00056
|
|
NM_015915.5(ATL1):c.631-7T>A
|
rs186528086
|
0.00056
|
|
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp)
|
rs61746358
|
0.00056
|
|
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala)
|
rs150440590
|
0.00056
|
|
NM_018055.5(NODAL):c.972G>A (p.Leu324=)
|
rs143903715
|
0.00056
|
|
NM_018075.5(ANO10):c.566G>A (p.Arg189Gln)
|
rs148873732
|
0.00056
|
|
NM_018082.6(POLR3B):c.2818-14T>C
|
rs370333143
|
0.00056
|
|
NM_018136.5(ASPM):c.9676T>G (p.Cys3226Gly)
|
rs142901223
|
0.00056
|
|
NM_018139.3(DNAAF2):c.263G>A (p.Cys88Tyr)
|
rs549457480
|
0.00056
|
|
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser)
|
rs149017703
|
0.00056
|
|
NM_020297.4(ABCC9):c.2238-1G>A
|
rs141281214
|
0.00056
|
|
NM_020436.5(SALL4):c.2041G>A (p.Ala681Thr)
|
rs147385529
|
0.00056
|
|
NM_020549.5(CHAT):c.1174G>A (p.Ala392Thr)
|
rs115877658
|
0.00056
|
|
NM_020919.4(ALS2):c.4416G>A (p.Thr1472=)
|
rs200202953
|
0.00056
|
|
NM_020975.6(RET):c.262A>G (p.Ile88Val)
|
rs141679950
|
0.00056
|
|
NM_020975.6(RET):c.833C>A (p.Thr278Asn)
|
rs35118262
|
0.00056
|
|
NM_024408.4(NOTCH2):c.6766C>T (p.Arg2256Cys)
|
rs147522485
|
0.00056
|
|
NM_024422.6(DSC2):c.270G>A (p.Glu90=)
|
rs138643506
|
0.00056
|
|
NM_024876.4(COQ8B):c.1297-6T>G
|
rs199934542
|
0.00056
|
|
NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly)
|
rs201354264
|
0.00056
|
|
NM_032119.4(ADGRV1):c.8161A>G (p.Ile2721Val)
|
rs201963060
|
0.00056
|
|
NM_032531.4(KIRREL3):c.908T>C (p.Val303Ala)
|
rs201725914
|
0.00056
|
|
NM_052813.5(CARD9):c.960G>A (p.Glu320=)
|
rs148158774
|
0.00056
|
|
NM_133379.5(TTN):c.14078T>C (p.Ile4693Thr)
|
rs139486133
|
0.00056
|
|
NM_138694.4(PKHD1):c.10210A>G (p.Ile3404Val)
|
rs147612089
|
0.00056
|
|
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg)
|
rs141103838
|
0.00056
|
|
NM_138711.6(PPARG):c.348T>C (p.Ala116=)
|
rs147975759
|
0.00056
|
|
NM_144772.3(NAXE):c.202G>C (p.Val68Leu)
|
rs149164071
|
0.00056
|
|
NM_144991.3(TSPEAR):c.1778C>T (p.Ser593Leu)
|
rs143840354
|
0.00056
|
|
NM_152416.4(NDUFAF6):c.641T>C (p.Val214Ala)
|
rs376835502
|
0.00056
|
|
NM_182961.4(SYNE1):c.1038T>C (p.Asp346=)
|
rs144105769
|
0.00056
|
|
NM_182961.4(SYNE1):c.7458A>G (p.Gln2486=)
|
rs139070088
|
0.00056
|
|
NM_198129.4(LAMA3):c.9241C>T (p.Arg3081Cys)
|
rs35762515
|
0.00056
|
|
NM_198525.3(KIF7):c.3264C>T (p.Leu1088=)
|
rs138764398
|
0.00056
|
|
NM_198569.3(ADGRG6):c.1955+4A>C
|
rs372735218
|
0.00056
|
|
NM_201384.3(PLEC):c.13509C>T (p.Arg4503=)
|
rs190789703
|
0.00056
|
|
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys)
|
rs111033275
|
0.00056
|
|
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp)
|
rs139002130
|
0.00055
|
|
NM_000245.4(MET):c.71G>A (p.Gly24Glu)
|
rs180985111
|
0.00055
|
|
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg)
|
rs201278114
|
0.00055
|
|
NM_000452.3(SLC10A2):c.175C>T (p.Leu59=)
|
rs150970825
|
0.00055
|
|
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp)
|
rs144825021
|
0.00055
|
|
NM_000506.5(F2):c.1464G>A (p.Thr488=)
|
rs146742525
|
0.00055
|
|
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys)
|
rs142348542
|
0.00055
|
|
NM_000843.4(GRM6):c.1571C>T (p.Pro524Leu)
|
rs143491269
|
0.00055
|
|
NM_001036.6(RYR3):c.7249A>G (p.Ile2417Val)
|
rs200294137
|
0.00055
|
|
NM_001041.4(SI):c.2888G>A (p.Arg963Lys)
|
rs148434280
|
0.00055
|
|
NM_001042545.2(LTBP4):c.4034C>G (p.Pro1345Arg)
|
rs199678003
|
0.00055
|
|
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=)
|
rs143475751
|
0.00055
|
|
NM_001130987.2(DYSF):c.4627G>A (p.Val1543Ile)
|
rs143895253
|
0.00055
|
|
NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr)
|
rs199868951
|
0.00055
|
|
NM_001164508.2(NEB):c.20956G>C (p.Asp6986His)
|
rs150874422
|
0.00055
|
|
NM_001205293.3(CACNA1E):c.6470G>A (p.Arg2157Gln)
|
rs2480373
|
0.00055
|
|
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu)
|
rs146664754
|
0.00055
|
|
NM_001256071.3(RNF213):c.13592C>T (p.Pro4531Leu)
|
rs143904490
|
0.00055
|
|
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His)
|
rs191539637
|
0.00055
|
|
NM_001267550.2(TTN):c.62432A>G (p.Asp20811Gly)
|
rs72646849
|
0.00055
|
|
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys)
|
rs72646859
|
0.00055
|
|
NM_001283009.2(RTEL1):c.2915C>T (p.Thr972Ile)
|
rs199834369
|
0.00055
|
|
NM_001291303.3(FAT4):c.13555G>A (p.Ala4519Thr)
|
rs202148971
|
0.00055
|
|
NM_001297.5(CNGB1):c.2370-9C>T
|
rs374373659
|
0.00055
|
|
NM_001304438.2(TMEM132E):c.2655A>C (p.Thr885=)
|
rs146702736
|
0.00055
|
|
NM_001367805.3(KIF23):c.213T>C (p.Thr71=)
|
rs145233110
|
0.00055
|
|
NM_001374385.1(ATP8B1):c.114T>G (p.Ser38=)
|
rs141463153
|
0.00055
|
|
NM_001377299.1(NDUFS2):c.1138C>G (p.His380Asp)
|
rs144411579
|
0.00055
|
|
NM_001378609.3(OTOGL):c.169-8T>C
|
rs189897002
|
0.00055
|
|
NM_001378609.3(OTOGL):c.4976C>T (p.Ser1659Phe)
|
rs181109105
|
0.00055
|
|
NM_001384125.1(BLTP1):c.2935C>T (p.Pro979Ser)
|
rs201348504
|
0.00055
|
|
NM_001614.5(ACTG1):c.228C>T (p.Val76=)
|
rs143028649
|
0.00055
|
|
NM_001845.6(COL4A1):c.2624C>G (p.Pro875Arg)
|
rs201964644
|
0.00055
|
|
NM_002495.4(NDUFS4):c.80T>A (p.Val27Asp)
|
rs145347909
|
0.00055
|
|
NM_002778.4(PSAP):c.41-13G>C
|
rs138010978
|
0.00055
|
|
NM_002907.4(RECQL):c.406G>A (p.Val136Ile)
|
rs138278747
|
0.00055
|
|
NM_003977.4(AIP):c.807C>T (p.Phe269=)
|
rs139407567
|
0.00055
|
|
NM_003982.4(SLC7A7):c.234C>T (p.Val78=)
|
rs139776370
|
0.00055
|
|
NM_004239.4(TRIP11):c.9C>T (p.Ser3=)
|
rs148398142
|
0.00055
|
|
NM_004304.5(ALK):c.469C>T (p.Pro157Ser)
|
rs74774946
|
0.00055
|
|
NM_004525.3(LRP2):c.10165A>G (p.Ile3389Val)
|
rs140272085
|
0.00055
|
|
NM_004525.3(LRP2):c.1189A>G (p.Ile397Val)
|
rs140575982
|
0.00055
|
|
NM_004612.4(TGFBR1):c.46G>A (p.Val16Met)
|
rs1021523079
|
0.00055
|
|
NM_005045.4(RELN):c.7644G>A (p.Ser2548=)
|
rs150743664
|
0.00055
|
|
NM_005204.4(MAP3K8):c.1339G>A (p.Asp447Asn)
|
rs139316352
|
0.00055
|
|
NM_005751.5(AKAP9):c.10459G>A (p.Glu3487Lys)
|
rs61757664
|
0.00055
|
|
NM_006294.5(UQCRB):c.200T>A (p.Leu67Gln)
|
rs139283183
|
0.00055
|
|
NM_006514.4(SCN10A):c.1138G>A (p.Val380Ile)
|
rs142276689
|
0.00055
|
|
NM_007103.4(NDUFV1):c.1075C>T (p.Arg359Cys)
|
rs142499054
|
0.00055
|
|
NM_012213.3(MLYCD):c.1236C>T (p.Arg412=)
|
rs370278897
|
0.00055
|
|
NM_014208.3(DSPP):c.768C>T (p.Asp256=)
|
rs374400491
|
0.00055
|
|
NM_014639.4(SKIC3):c.3341+9A>G
|
rs376170264
|
0.00055
|
|
NM_015160.3(PMPCA):c.476G>T (p.Gly159Val)
|
rs143813417
|
0.00055
|
|
NM_015404.4(WHRN):c.1455G>A (p.Pro485=)
|
rs141807746
|
0.00055
|
|
NM_020461.4(TUBGCP6):c.1026G>A (p.Pro342=)
|
rs141805017
|
0.00055
|
|
NM_022124.6(CDH23):c.1752+6G>A
|
rs369013539
|
0.00055
|
|
NM_024105.4(ALG12):c.563G>A (p.Cys188Tyr)
|
rs555600636
|
0.00055
|
|
NM_024675.4(PALB2):c.2749-18C>T
|
rs182194007
|
0.00055
|
|
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr)
|
rs199583200
|
0.00055
|
|
NM_033087.4(ALG2):c.475A>G (p.Ile159Val)
|
rs146770430
|
0.00055
|
|
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr)
|
rs149530842
|
0.00055
|
|
NM_174936.4(PCSK9):c.847C>A (p.Leu283Met)
|
rs72646510
|
0.00055
|
|
NM_181303.2(NLGN3):c.603C>G (p.Pro201=)
|
rs35794236
|
0.00055
|
|
NM_182961.4(SYNE1):c.10396C>G (p.Leu3466Val)
|
rs150637898
|
0.00055
|
|
NM_194318.4(B3GLCT):c.288C>T (p.Leu96=)
|
rs9542305
|
0.00055
|
|
NM_198578.4(LRRK2):c.6566A>G (p.Tyr2189Cys)
|
rs35658131
|
0.00055
|
|
NM_201384.3(PLEC):c.11594G>A (p.Arg3865His)
|
rs200722246
|
0.00055
|
|
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg)
|
rs28897712
|
0.00054
|
|
NM_000079.4(CHRNA1):c.1293C>T (p.Leu431=)
|
rs146899588
|
0.00054
|
|
NM_000081.4(LYST):c.4637C>T (p.Ala1546Val)
|
rs142983846
|
0.00054
|
|
NM_000089.4(COL1A2):c.3613C>T (p.Arg1205Trp)
|
rs150124840
|
0.00054
|
|
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu)
|
rs2228241
|
0.00054
|
|
NM_000158.4(GBE1):c.1877A>G (p.Asn626Ser)
|
rs185631651
|
0.00054
|
|
NM_000195.5(HPS1):c.1438G>A (p.Ala480Thr)
|
rs17109853
|
0.00054
|
|
NM_000246.4(CIITA):c.712C>T (p.His238Tyr)
|
rs150307400
|
0.00054
|
|
NM_000288.4(PEX7):c.418-4G>T
|
rs199552223
|
0.00054
|
|
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg)
|
rs28931583
|
0.00054
|
|
NM_000350.3(ABCA4):c.981C>T (p.Pro327=)
|
rs61753057
|
0.00054
|
|
NM_000360.4(TH):c.897C>T (p.Phe299=)
|
rs76719766
|
0.00054
|
|
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg)
|
rs145628302
|
0.00054
|
|
NM_000532.5(PCCB):c.763+10C>G
|
rs180982841
|
0.00054
|
|
NM_000548.5(TSC2):c.1609C>T (p.Arg537Cys)
|
rs142257684
|
0.00054
|
|
NM_000553.6(WRN):c.3453G>A (p.Glu1151=)
|
rs144116311
|
0.00054
|
|
NM_001004334.4(GPR179):c.973G>A (p.Gly325Arg)
|
rs200392643
|
0.00054
|
|
NM_001040142.2(SCN2A):c.2388+9C>A
|
rs191955969
|
0.00054
|
|
NM_001041.4(SI):c.3772A>G (p.Thr1258Ala)
|
rs144579834
|
0.00054
|
|
NM_001093.4(ACACB):c.3597G>A (p.Ser1199=)
|
rs148241794
|
0.00054
|
|
NM_001103.4(ACTN2):c.1452G>A (p.Gln484=)
|
rs200529923
|
0.00054
|
|
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly)
|
rs143166100
|
0.00054
|
|
NM_001164508.2(NEB):c.14266C>A (p.Gln4756Lys)
|
rs755875238
|
0.00054
|
|
NM_001177316.2(SLC34A3):c.1464T>C (p.Ala488=)
|
rs144666114
|
0.00054
|
|
NM_001256317.3(TMPRSS3):c.412G>A (p.Ala138Thr)
|
rs140614903
|
0.00054
|
|
NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val)
|
rs148140756
|
0.00054
|
|
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val)
|
rs72646855
|
0.00054
|
|
NM_001267550.2(TTN):c.83171T>G (p.Val27724Gly)
|
rs201896662
|
0.00054
|
|
NM_001292063.2(OTOG):c.1700G>A (p.Arg567Gln)
|
rs142253169
|
0.00054
|
|
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=)
|
rs144562471
|
0.00054
|
|
NM_001365276.2(TNXB):c.6367G>A (p.Asp2123Asn)
|
rs201764050
|
0.00054
|
|
NM_001367805.3(KIF23):c.100C>A (p.Pro34Thr)
|
rs148511930
|
0.00054
|
|
NM_001384140.1(PCDH15):c.1028G>A (p.Arg343Lys)
|
rs141169746
|
0.00054
|
|
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser)
|
rs111033363
|
0.00054
|
|
NM_001556.3(IKBKB):c.887C>T (p.Pro296Leu)
|
rs186203343
|
0.00054
|
|
NM_001701.4(BAAT):c.341T>A (p.Val114Glu)
|
rs143561437
|
0.00054
|
|
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu)
|
rs113451409
|
0.00054
|
|
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln)
|
rs372174546
|
0.00054
|
|
NM_002291.3(LAMB1):c.3038G>A (p.Arg1013Gln)
|
rs141390544
|
0.00054
|
|
NM_002473.6(MYH9):c.1566G>A (p.Pro522=)
|
rs145517108
|
0.00054
|
|
NM_003000.3(SDHB):c.21C>T (p.Leu7=)
|
rs147815442
|
0.00054
|
|
NM_003049.4(SLC10A1):c.393T>G (p.Leu131=)
|
rs61744165
|
0.00054
|
|
NM_003098.3(SNTA1):c.787G>T (p.Ala263Ser)
|
rs150576530
|
0.00054
|
|
NM_003105.6(SORL1):c.6401C>T (p.Thr2134Met)
|
rs142884576
|
0.00054
|
|
NM_003672.4(CDC14A):c.31G>A (p.Ala11Thr)
|
rs140623300
|
0.00054
|
|
NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val)
|
rs200396166
|
0.00054
|
|
NM_003977.4(AIP):c.382C>T (p.Arg128Cys)
|
rs140530307
|
0.00054
|
|
NM_004304.5(ALK):c.3080C>T (p.Pro1027Leu)
|
rs140733978
|
0.00054
|
|
NM_004320.6(ATP2A1):c.1560C>T (p.Gly520=)
|
rs138565447
|
0.00054
|
|
NM_004370.6(COL12A1):c.7223C>T (p.Thr2408Met)
|
rs141593495
|
0.00054
|
|
NM_004380.3(CREBBP):c.2850G>A (p.Thr950=)
|
rs141651423
|
0.00054
|
|
NM_004447.6(EPS8):c.1582C>T (p.Leu528Phe)
|
rs138455166
|
0.00054
|
|
NM_005045.4(RELN):c.6939T>C (p.Ile2313=)
|
rs113498433
|
0.00054
|
|
NM_005502.4(ABCA1):c.2115+17C>T
|
rs371944946
|
0.00054
|
|
NM_005506.4(SCARB2):c.486C>T (p.Ala162=)
|
rs143518519
|
0.00054
|
|
NM_005633.4(SOS1):c.749T>C (p.Val250Ala)
|
rs139290271
|
0.00054
|
|
NM_006031.6(PCNT):c.8702C>T (p.Pro2901Leu)
|
rs150615481
|
0.00054
|
|
NM_006059.4(LAMC3):c.1547T>G (p.Val516Gly)
|
rs549607103
|
0.00054
|
|
NM_006078.5(CACNG2):c.640G>A (p.Ala214Thr)
|
rs139052540
|
0.00054
|
|
NM_006514.4(SCN10A):c.853G>A (p.Glu285Lys)
|
rs146151670
|
0.00054
|
|
NM_006949.4(STXBP2):c.1569G>A (p.Lys523=)
|
rs148868283
|
0.00054
|
|
NM_007078.3(LDB3):c.1036G>A (p.Ala346Thr)
|
rs201968775
|
0.00054
|
|
NM_007194.4(CHEK2):c.793-11G>A
|
rs5997387
|
0.00054
|
|
NM_007215.4(POLG2):c.466A>G (p.Ile156Val)
|
rs137901677
|
0.00054
|
|
NM_012188.5(FOXI1):c.825C>T (p.Ala275=)
|
rs147596900
|
0.00054
|
|
NM_014008.5(CCDC22):c.962G>A (p.Arg321Gln)
|
rs140735182
|
0.00054
|
|
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=)
|
rs141078449
|
0.00054
|
|
NM_014244.5(ADAMTS2):c.1083T>C (p.Asp361=)
|
rs150079799
|
0.00054
|
|
NM_014244.5(ADAMTS2):c.2272G>A (p.Ala758Thr)
|
rs146222244
|
0.00054
|
|
NM_014363.6(SACS):c.2186-4A>G
|
rs371866995
|
0.00054
|
|
NM_014363.6(SACS):c.4985C>T (p.Thr1662Met)
|
rs139387396
|
0.00054
|
|
NM_014865.4(NCAPD2):c.1009G>A (p.Val337Met)
|
rs143795587
|
0.00054
|
|
NM_015602.4(TOR1AIP1):c.155A>T (p.Gln52Leu)
|
rs139690983
|
0.00054
|
|
NM_015627.3(LDLRAP1):c.396C>T (p.Ile132=)
|
rs369497122
|
0.00054
|
|
NM_016580.4(PCDH12):c.2030T>C (p.Val677Ala)
|
rs201826901
|
0.00054
|
|
NM_017570.5(OPLAH):c.1372G>A (p.Val458Met)
|
rs144920839
|
0.00054
|
|
NM_017999.5(RNF31):c.1438C>T (p.Arg480Cys)
|
rs200344424
|
0.00054
|
|
NM_018417.6(ADCY10):c.20A>C (p.Glu7Ala)
|
rs56142912
|
0.00054
|
|
NM_020451.3(SELENON):c.415G>A (p.Ala139Thr)
|
rs201692549
|
0.00054
|
|
NM_021625.5(TRPV4):c.1656del (p.Tyr553fs)
|
rs541606391
|
0.00054
|
|
NM_024753.5(TTC21B):c.3797C>T (p.Pro1266Leu)
|
rs140384742
|
0.00054
|
|
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)
|
rs201988582
|
0.00054
|
|
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn)
|
rs141894081
|
0.00054
|
|
NM_032119.4(ADGRV1):c.17528A>G (p.Tyr5843Cys)
|
rs147011199
|
0.00054
|
|
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His)
|
rs149163661
|
0.00054
|
|
NM_181486.4(TBX5):c.55G>T (p.Ala19Ser)
|
rs200461617
|
0.00054
|
|
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile)
|
rs139170018
|
0.00054
|
|
NM_201384.3(PLEC):c.6426C>T (p.Ala2142=)
|
rs200062782
|
0.00054
|
|
NM_203290.4(POLR1C):c.421C>T (p.Arg141Cys)
|
rs148385032
|
0.00054
|
|
NM_203447.4(DOCK8):c.3312G>C (p.Glu1104Asp)
|
rs138810908
|
0.00054
|
|
NM_206933.4(USH2A):c.13343A>G (p.Asp4448Gly)
|
rs150532013
|
0.00054
|
|
NM_206933.4(USH2A):c.7301-6C>T
|
rs375499259
|
0.00054
|
|
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr)
|
rs111033533
|
0.00054
|
|
NM_000036.3(AMPD1):c.1570T>A (p.Ser524Thr)
|
rs140181682
|
0.00053
|
|
NM_000038.6(APC):c.1240C>T (p.Arg414Cys)
|
rs137854567
|
0.00053
|
|
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
|
rs34640941
|
0.00053
|
|
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val)
|
rs146303208
|
0.00053
|
|
NM_000059.4(BRCA2):c.7435+6G>A
|
rs81002852
|
0.00053
|
|
NM_000064.4(C3):c.3490-10T>G
|
rs372843505
|
0.00053
|
|
NM_000069.3(CACNA1S):c.3628G>A (p.Gly1210Arg)
|
rs148870919
|
0.00053
|
|
NM_000070.3(CAPN3):c.2380+19C>T
|
rs141234995
|
0.00053
|
|
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=)
|
rs1800346
|
0.00053
|
|
NM_000199.5(SGSH):c.1209C>T (p.Tyr403=)
|
rs115750405
|
0.00053
|
|
NM_000212.3(ITGB3):c.1299C>T (p.Pro433=)
|
rs200857868
|
0.00053
|
|
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn)
|
rs12720457
|
0.00053
|
|
NM_000245.4(MET):c.607T>A (p.Ser203Thr)
|
rs200861145
|
0.00053
|
|
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=)
|
rs63750330
|
0.00053
|
|
NM_000268.4(NF2):c.1737+2098A>G
|
rs75296199
|
0.00053
|
|
NM_000350.3(ABCA4):c.3468C>T (p.Tyr1156=)
|
rs113698006
|
0.00053
|
|
NM_000390.4(CHM):c.1244+8T>A
|
rs369829791
|
0.00053
|
|
NM_000417.3(IL2RA):c.656-14T>A
|
rs74162097
|
0.00053
|
|
NM_000426.4(LAMA2):c.7250A>G (p.His2417Arg)
|
rs147185142
|
0.00053
|
|
NM_000428.3(LTBP2):c.2541A>G (p.Arg847=)
|
rs140719298
|
0.00053
|
|
NM_000501.4(ELN):c.470-10C>G
|
rs200663056
|
0.00053
|
|
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)
|
rs147509697
|
0.00053
|
|
NM_000540.3(RYR1):c.12880A>G (p.Thr4294Ala)
|
rs1003914966
|
0.00053
|
|
NM_000601.6(HGF):c.1891G>A (p.Val631Met)
|
rs145494248
|
0.00053
|
|
NM_000642.3(AGL):c.1759C>T (p.His587Tyr)
|
rs139488862
|
0.00053
|
|
NM_000709.4(BCKDHA):c.289-5C>T
|
rs200646708
|
0.00053
|
|
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=)
|
rs141519183
|
0.00053
|
|
NM_001005242.3(PKP2):c.1379-2054C>T
|
rs144620127
|
0.00053
|
|
NM_001006630.2(CHRM2):c.860C>G (p.Thr287Ser)
|
rs138193709
|
0.00053
|
|
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln)
|
rs147992238
|
0.00053
|
|
NM_001012339.3(DNAJC21):c.1315G>A (p.Glu439Lys)
|
rs115834468
|
0.00053
|
|
NM_001035.3(RYR2):c.1548T>C (p.Asp516=)
|
rs146129084
|
0.00053
|
|
NM_001038603.3(MARVELD2):c.176C>T (p.Pro59Leu)
|
rs150434290
|
0.00053
|
|
NM_001039141.3(TRIOBP):c.3219G>A (p.Ala1073=)
|
rs374759271
|
0.00053
|
|
NM_001042492.3(NF1):c.6379A>G (p.Ile2127Val)
|
rs200022550
|
0.00053
|
|
NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln)
|
rs200769097
|
0.00053
|
|
NM_001080467.3(MYO5B):c.1984G>A (p.Asp662Asn)
|
rs200378779
|
0.00053
|
|
NM_001082486.2(ACD):c.22G>A (p.Val8Ile)
|
rs149365469
|
0.00053
|
|
NM_001083961.2(WDR62):c.4564G>A (p.Gly1522Arg)
|
rs142600079
|
0.00053
|
|
NM_001089.3(ABCA3):c.753C>T (p.Ile251=)
|
rs146161376
|
0.00053
|
|
NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile)
|
rs144722432
|
0.00053
|
|
NM_001130987.2(DYSF):c.1498C>T (p.Arg500Cys)
|
rs185119682
|
0.00053
|
|
NM_001142864.4(PIEZO1):c.7153G>A (p.Val2385Met)
|
rs369319123
|
0.00053
|
|
NM_001161352.2(KCNMA1):c.3147+15T>C
|
rs145048715
|
0.00053
|
|
NM_001267550.2(TTN):c.102657T>A (p.Ser34219Arg)
|
rs370077023
|
0.00053
|
|
NM_001267550.2(TTN):c.10378C>G (p.Pro3460Ala)
|
rs201735487
|
0.00053
|
|
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys)
|
rs189127014
|
0.00053
|
|
NM_001292063.2(OTOG):c.2405T>A (p.Leu802Gln)
|
rs144972211
|
0.00053
|
|
NM_001329943.3(KIAA0586):c.3688T>C (p.Leu1230=)
|
rs143158234
|
0.00053
|
|
NM_001330078.2(NRXN1):c.4167C>G (p.Pro1389=)
|
rs143446587
|
0.00053
|
|
NM_001365276.2(TNXB):c.7802C>T (p.Pro2601Leu)
|
rs575866552
|
0.00053
|
|
NM_001367721.1(CASK):c.2297G>A (p.Arg766Gln)
|
rs137964936
|
0.00053
|
|
NM_001378414.1(HDAC4):c.3174C>T (p.Ala1058=)
|
rs142279745
|
0.00053
|
|
NM_001378454.1(ALMS1):c.9712C>T (p.Arg3238Cys)
|
rs201252375
|
0.00053
|
|
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys)
|
rs373960465
|
0.00053
|
|
NM_001793.6(CDH3):c.1443C>T (p.Asp481=)
|
rs144403828
|
0.00053
|
|
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser)
|
rs140985224
|
0.00053
|
|
NM_002180.3(IGHMBP2):c.2360C>T (p.Pro787Leu)
|
rs141594765
|
0.00053
|
|
NM_003383.5(VLDLR):c.1643A>G (p.Lys548Arg)
|
rs148487944
|
0.00053
|
|
NM_003482.4(KMT2D):c.15797G>A (p.Arg5266His)
|
rs201481646
|
0.00053
|
|
NM_003482.4(KMT2D):c.6354C>T (p.Pro2118=)
|
rs377392943
|
0.00053
|
|
NM_003482.4(KMT2D):c.9385C>T (p.Pro3129Ser)
|
rs200089754
|
0.00053
|
|
NM_004370.6(COL12A1):c.3835+4A>G
|
rs187358458
|
0.00053
|
|
NM_004722.4(AP4M1):c.930G>A (p.Arg310=)
|
rs141754568
|
0.00053
|
|
NM_005276.4(GPD1):c.590T>C (p.Val197Ala)
|
rs2232207
|
0.00053
|
|
NM_005428.4(VAV1):c.1615A>G (p.Thr539Ala)
|
rs61750003
|
0.00053
|
|
NM_005529.7(HSPG2):c.11256G>A (p.Leu3752=)
|
rs144122107
|
0.00053
|
|
NM_005560.6(LAMA5):c.2829C>T (p.Ser943=)
|
rs151209097
|
0.00053
|
|
NM_005612.5(REST):c.2486A>G (p.Glu829Gly)
|
rs146942863
|
0.00053
|
|
NM_006009.4(TUBA1A):c.4-7C>T
|
rs560491477
|
0.00053
|
|
NM_006019.4(TCIRG1):c.2397C>T (p.His799=)
|
rs141356870
|
0.00053
|
|
NM_006231.4(POLE):c.4534G>A (p.Val1512Ile)
|
rs147354120
|
0.00053
|
|
NM_006892.4(DNMT3B):c.143-8C>T
|
rs200349528
|
0.00053
|
|
NM_006922.4(SCN3A):c.1381-4A>G
|
rs199597878
|
0.00053
|
|
NM_012210.4(TRIM32):c.*1G>A
|
rs142781513
|
0.00053
|
|
NM_012254.3(SLC27A5):c.1668-10C>T
|
rs375785125
|
0.00053
|
|
NM_014249.4(NR2E3):c.455C>T (p.Pro152Leu)
|
rs371853056
|
0.00053
|
|
NM_014874.4(MFN2):c.756C>T (p.Asn252=)
|
rs137960129
|
0.00053
|
|
NM_015114.3(ANKLE2):c.19G>A (p.Ala7Thr)
|
rs865818494
|
0.00053
|
|
NM_015294.6(TRIM37):c.2240A>G (p.Asn747Ser)
|
rs143613788
|
0.00053
|
|
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp)
|
rs146655362
|
0.00053
|
|
NM_017553.3(INO80):c.2998C>T (p.Arg1000Cys)
|
rs149600837
|
0.00053
|
|
NM_017668.3(NDE1):c.872C>T (p.Ser291Phe)
|
rs146284370
|
0.00053
|
|
NM_020366.4(RPGRIP1):c.3171C>T (p.His1057=)
|
rs201838837
|
0.00053
|
|
NM_020812.4(DOCK6):c.518G>A (p.Arg173Gln)
|
rs373956807
|
0.00053
|
|
NM_020975.6(RET):c.*1430A>G
|
rs775114955
|
0.00053
|
|
NM_021044.4(DHH):c.1134T>A (p.Thr378=)
|
rs144444357
|
0.00053
|
|
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=)
|
rs138986228
|
0.00053
|
|
NM_022114.4(PRDM16):c.553A>G (p.Met185Val)
|
rs376567517
|
0.00053
|
|
NM_022124.6(CDH23):c.1446C>A (p.Val482=)
|
rs200324241
|
0.00053
|
|
NM_022124.6(CDH23):c.5505G>A (p.Met1835Ile)
|
rs200786014
|
0.00053
|
|
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=)
|
rs376804660
|
0.00053
|
|
NM_024306.5(FA2H):c.337C>T (p.Arg113Trp)
|
rs141276237
|
0.00053
|
|
NM_025074.7(FRAS1):c.11306A>G (p.Asn3769Ser)
|
rs112039037
|
0.00053
|
|
NM_030957.4(ADAMTS10):c.506G>A (p.Arg169Gln)
|
rs151257275
|
0.00053
|
|
NM_032119.4(ADGRV1):c.11761G>A (p.Ala3921Thr)
|
rs200576500
|
0.00053
|
|
NM_032119.4(ADGRV1):c.16312A>G (p.Thr5438Ala)
|
rs201890097
|
0.00053
|
|
NM_032382.5(COG8):c.1682C>T (p.Thr561Met)
|
rs143411142
|
0.00053
|
|
NM_053025.4(MYLK):c.1219G>T (p.Gly407Cys)
|
rs199719143
|
0.00053
|
|
NM_133379.5(TTN):c.14812A>G (p.Met4938Val)
|
rs145581345
|
0.00053
|
|
NM_133459.4(CCBE1):c.354A>G (p.Arg118=)
|
rs116239086
|
0.00053
|
|
NM_138425.4(C12orf57):c.-4C>T
|
rs377078607
|
0.00053
|
|
NM_138694.4(PKHD1):c.1119-18C>G
|
rs367960459
|
0.00053
|
|
NM_138694.4(PKHD1):c.4871G>A (p.Arg1624Gln)
|
rs190396031
|
0.00053
|
|
NM_144991.3(TSPEAR):c.668C>T (p.Ser223Leu)
|
rs149481227
|
0.00053
|
|
NM_147196.3(TMIE):c.219G>A (p.Thr73=)
|
rs202208051
|
0.00053
|
|
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala)
|
rs138930771
|
0.00053
|
|
NM_152564.5(VPS13B):c.983A>G (p.His328Arg)
|
rs181625846
|
0.00053
|
|
NM_152722.5(HEPACAM):c.862C>T (p.Arg288Cys)
|
rs149782549
|
0.00053
|
|
NM_170784.3(MKKS):c.*10A>G
|
rs144934812
|
0.00053
|
|
NM_174916.3(UBR1):c.3290C>T (p.Thr1097Met)
|
rs142285781
|
0.00053
|
|
NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe)
|
rs61753526
|
0.00053
|
|
NM_201384.3(PLEC):c.6045A>T (p.Lys2015Asn)
|
rs200540800
|
0.00053
|
|
NM_201548.5(CERKL):c.589G>T (p.Ala197Ser)
|
rs151110889
|
0.00053
|
|
NM_000032.5(ALAS2):c.653G>A (p.Arg218His)
|
rs185504937
|
0.00052
|
|
NM_000081.4(LYST):c.11086G>A (p.Val3696Ile)
|
rs147221131
|
0.00052
|
|
NM_000081.4(LYST):c.8806G>A (p.Val2936Ile)
|
rs2753327
|
0.00052
|
|
NM_000094.4(COL7A1):c.810G>A (p.Thr270=)
|
rs138770708
|
0.00052
|
|
NM_000124.4(ERCC6):c.2741C>T (p.Thr914Met)
|
rs142580756
|
0.00052
|
|
NM_000203.5(IDUA):c.493+7G>A
|
rs200509712
|
0.00052
|
|
NM_000349.3(STAR):c.177C>T (p.Leu59=)
|
rs142910480
|
0.00052
|
|
NM_000359.3(TGM1):c.270T>A (p.Pro90=)
|
rs201400055
|
0.00052
|
|
NM_000388.4(CASR):c.1192G>A (p.Asp398Asn)
|
rs201177696
|
0.00052
|
|
NM_000426.4(LAMA2):c.1645C>T (p.Pro549Ser)
|
rs139070796
|
0.00052
|
|
NM_000426.4(LAMA2):c.3014A>G (p.Asn1005Ser)
|
rs139244736
|
0.00052
|
|
NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=)
|
rs140936904
|
0.00052
|
|
NM_000553.6(WRN):c.3422C>T (p.Ser1141Leu)
|
rs139323683
|
0.00052
|
|
NM_000709.4(BCKDHA):c.1081A>G (p.Ile361Val)
|
rs61736656
|
0.00052
|
|
NM_000875.5(IGF1R):c.3187-5C>T
|
rs45495500
|
0.00052
|
|
NM_001001344.3(ATP2B3):c.214G>A (p.Ala72Thr)
|
rs149114271
|
0.00052
|
|
NM_001005498.4(RHBDF2):c.853G>A (p.Ala285Thr)
|
rs140433374
|
0.00052
|
|
NM_001018004.2(TPM1):c.775A>G (p.Lys259Glu)
|
rs144045691
|
0.00052
|
|
NM_001044385.3(TMEM237):c.251A>G (p.Gln84Arg)
|
rs373811074
|
0.00052
|
|
NM_001098511.3(KIF2A):c.48G>A (p.Glu16=)
|
rs533812435
|
0.00052
|
|
NM_001105206.3(LAMA4):c.674C>T (p.Ala225Val)
|
rs149615862
|
0.00052
|
|
NM_001128840.3(CACNA1D):c.2812-14G>T
|
rs369180125
|
0.00052
|
|
NM_001145809.2(MYH14):c.1919G>A (p.Arg640Gln)
|
rs199696801
|
0.00052
|
|
NM_001164508.2(NEB):c.984C>T (p.Thr328=)
|
rs199969138
|
0.00052
|
|
NM_001177316.2(SLC34A3):c.1453C>T (p.Arg485Cys)
|
rs145029982
|
0.00052
|
|
NM_001267550.2(TTN):c.54818C>T (p.Pro18273Leu)
|
rs201035511
|
0.00052
|
|
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=)
|
rs376810671
|
0.00052
|
|
NM_001286577.2(C2CD3):c.6251C>G (p.Thr2084Ser)
|
rs562313391
|
0.00052
|
|
NM_001365536.1(SCN9A):c.3402G>T (p.Leu1134Phe)
|
rs200160858
|
0.00052
|
|
NM_001367624.2(ZNF469):c.9079C>T (p.Arg3027Cys)
|
rs376513000
|
0.00052
|
|
NM_001369.3(DNAH5):c.3777G>A (p.Ala1259=)
|
rs144893234
|
0.00052
|
|
NM_001369.3(DNAH5):c.6956C>T (p.Thr2319Met)
|
rs144983881
|
0.00052
|
|
NM_001374385.1(ATP8B1):c.2358G>A (p.Val786=)
|
rs33965008
|
0.00052
|
|
NM_001379081.2(FREM1):c.541C>T (p.Arg181Trp)
|
rs200482899
|
0.00052
|
|
NM_001875.5(CPS1):c.948-6C>T
|
rs112199960
|
0.00052
|
|
NM_002474.3(MYH11):c.1732A>G (p.Ile578Val)
|
rs111936548
|
0.00052
|
|
NM_002585.4(PBX1):c.92G>T (p.Gly31Val)
|
rs192264696
|
0.00052
|
|
NM_003742.4(ABCB11):c.167C>T (p.Ser56Leu)
|
rs11568361
|
0.00052
|
|
NM_004076.5(CRYBB3):c.327+1G>T
|
rs143187630
|
0.00052
|
|
NM_004320.6(ATP2A1):c.1427G>A (p.Arg476His)
|
rs150068594
|
0.00052
|
|
NM_004817.4(TJP2):c.981C>A (p.Ile327=)
|
rs147139671
|
0.00052
|
|
NM_004999.4(MYO6):c.1030G>A (p.Val344Ile)
|
rs199798449
|
0.00052
|
|
NM_004999.4(MYO6):c.1546+6T>C
|
rs199999513
|
0.00052
|
|
NM_006031.6(PCNT):c.5855C>T (p.Ala1952Val)
|
rs370664761
|
0.00052
|
|
NM_006420.3(ARFGEF2):c.3275G>A (p.Arg1092His)
|
rs151045115
|
0.00052
|
|
NM_006440.5(TXNRD2):c.1174T>C (p.Tyr392His)
|
rs201971987
|
0.00052
|
|
NM_007126.5(VCP):c.*4G>T
|
rs201091341
|
0.00052
|
|
NM_014251.3(SLC25A13):c.1618C>T (p.Pro540Ser)
|
rs75622628
|
0.00052
|
|
NM_014332.3(SMPX):c.132G>A (p.Glu44=)
|
rs199907508
|
0.00052
|
|
NM_014855.3(AP5Z1):c.970-5C>T
|
rs373671779
|
0.00052
|
|
NM_014915.3(ANKRD26):c.1998A>G (p.Lys666=)
|
rs372489280
|
0.00052
|
|
NM_017534.6(MYH2):c.5820A>G (p.Glu1940=)
|
rs140527143
|
0.00052
|
|
NM_017777.4(MKS1):c.874A>G (p.Lys292Glu)
|
rs201845569
|
0.00052
|
|
NM_018139.3(DNAAF2):c.1595A>G (p.Glu532Gly)
|
rs143210369
|
0.00052
|
|
NM_018341.3(ERMARD):c.563T>C (p.Val188Ala)
|
rs74451194
|
0.00052
|
|
NM_020376.4(PNPLA2):c.903C>T (p.Pro301=)
|
rs141190104
|
0.00052
|
|
NM_020821.3(VPS13C):c.6815T>C (p.Ile2272Thr)
|
rs141890160
|
0.00052
|
|
NM_022455.5(NSD1):c.3000C>T (p.Ser1000=)
|
rs150854966
|
0.00052
|
|
NM_022464.5(SIL1):c.573G>A (p.Lys191=)
|
rs148927511
|
0.00052
|
|
NM_024408.4(NOTCH2):c.1567+8C>T
|
rs372367275
|
0.00052
|
|
NM_024422.6(DSC2):c.1901G>A (p.Arg634His)
|
rs200475862
|
0.00052
|
|
NM_025009.5(CEP135):c.2802+4A>G
|
rs199594373
|
0.00052
|
|
NM_032444.4(SLX4):c.2756C>T (p.Thr919Ile)
|
rs145533919
|
0.00052
|
|
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln)
|
rs142877365
|
0.00052
|
|
NM_033026.6(PCLO):c.7571A>T (p.Gln2524Leu)
|
rs201409874
|
0.00052
|
|
NM_133459.4(CCBE1):c.265+8A>C
|
rs181010692
|
0.00052
|
|
NM_182914.3(SYNE2):c.4912T>C (p.Tyr1638His)
|
rs146801942
|
0.00052
|
|
NM_182961.4(SYNE1):c.5125C>A (p.Gln1709Lys)
|
rs140005424
|
0.00052
|
|
NM_182961.4(SYNE1):c.5259T>C (p.Ile1753=)
|
rs147508177
|
0.00052
|
|
NM_201384.3(PLEC):c.5521G>A (p.Ala1841Thr)
|
rs201657125
|
0.00052
|
|
NM_206933.4(USH2A):c.3581C>T (p.Pro1194Leu)
|
rs145114751
|
0.00052
|
|
NM_000016.6(ACADM):c.666C>A (p.Phe222Leu)
|
rs139457557
|
0.00051
|
|
NM_000018.4(ACADVL):c.1473A>G (p.Leu491=)
|
rs150518187
|
0.00051
|
|
NM_000030.3(AGXT):c.1142G>A (p.Arg381Lys)
|
rs151185188
|
0.00051
|
|
NM_000046.5(ARSB):c.88C>T (p.Leu30=)
|
rs766870239
|
0.00051
|
|
NM_000070.3(CAPN3):c.1746-7C>G
|
rs199978708
|
0.00051
|
|
NM_000124.4(ERCC6):c.4095T>A (p.Asn1365Lys)
|
rs150277901
|
0.00051
|
|
NM_000136.3(FANCC):c.934A>G (p.Ile312Val)
|
rs1800366
|
0.00051
|
|
NM_000190.4(HMBS):c.257A>T (p.Glu86Val)
|
rs150763621
|
0.00051
|
|
NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val)
|
rs140927806
|
0.00051
|
|
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu)
|
rs121912759
|
0.00051
|
|
NM_000369.5(TSHR):c.463A>T (p.Ile155Leu)
|
rs141293178
|
0.00051
|
|
NM_000381.4(MID1):c.1489C>T (p.Leu497=)
|
rs138629923
|
0.00051
|
|
NM_000384.3(APOB):c.895T>G (p.Phe299Val)
|
rs72653060
|
0.00051
|
|
NM_000392.5(ABCC2):c.736A>C (p.Met246Leu)
|
rs17222744
|
0.00051
|
|
NM_000393.5(COL5A2):c.2947C>T (p.Pro983Ser)
|
rs141644853
|
0.00051
|
|
NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr)
|
rs200102493
|
0.00051
|
|
NM_000453.3(SLC5A5):c.862G>A (p.Gly288Ser)
|
rs142014480
|
0.00051
|
|
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe)
|
rs200078204
|
0.00051
|
|
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)
|
rs200151353
|
0.00051
|
|
NM_000540.3(RYR1):c.3505A>C (p.Met1169Leu)
|
rs139069946
|
0.00051
|
|
NM_000543.5(SMPD1):c.1675G>A (p.Val559Ile)
|
rs149939736
|
0.00051
|
|
NM_000551.4(VHL):c.463+8C>T
|
rs5030834
|
0.00051
|
|
NM_000642.3(AGL):c.1908A>G (p.Ser636=)
|
rs144723143
|
0.00051
|
|
NM_000751.3(CHRND):c.817G>A (p.Asp273Asn)
|
rs202209156
|
0.00051
|
|
NM_001009944.3(PKD1):c.6979C>T (p.Arg2327Trp)
|
rs184394342
|
0.00051
|
|
NM_001009944.3(PKD1):c.9506G>A (p.Arg3169Gln)
|
rs375378535
|
0.00051
|
|
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=)
|
rs370332882
|
0.00051
|
|
NM_001035.3(RYR2):c.12663C>T (p.Ser4221=)
|
rs370297602
|
0.00051
|
|
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met)
|
rs200236750
|
0.00051
|
|
NM_001040716.2(PC):c.3391G>A (p.Val1131Met)
|
rs116518022
|
0.00051
|
|
NM_001042545.2(LTBP4):c.1882C>T (p.Arg628Cys)
|
rs200338042
|
0.00051
|
|
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)
|
rs138089183
|
0.00051
|
|
NM_001083961.2(WDR62):c.477G>A (p.Ala159=)
|
rs146485488
|
0.00051
|
|
NM_001105206.3(LAMA4):c.2398C>T (p.Arg800Cys)
|
rs202184174
|
0.00051
|
|
NM_001128228.3(TPRN):c.1573C>T (p.Arg525Trp)
|
rs138547889
|
0.00051
|
|
NM_001134363.3(RBM20):c.529A>T (p.Thr177Ser)
|
rs397516621
|
0.00051
|
|
NM_001142800.2(EYS):c.6828C>T (p.Ala2276=)
|
rs373606872
|
0.00051
|
|
NM_001142864.4(PIEZO1):c.6165-7G>A
|
rs141011459
|
0.00051
|
|
NM_001164508.2(NEB):c.3468C>T (p.Val1156=)
|
rs373258662
|
0.00051
|
|
NM_001243133.2(NLRP3):c.2855C>T (p.Thr952Met)
|
rs139814109
|
0.00051
|
|
NM_001267550.2(TTN):c.21404-4A>G
|
rs72648965
|
0.00051
|
|
NM_001267550.2(TTN):c.23378-10C>A
|
rs72648975
|
0.00051
|
|
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu)
|
rs201571580
|
0.00051
|
|
NM_001267550.2(TTN):c.33827-8C>T
|
rs371318311
|
0.00051
|
|
NM_001267550.2(TTN):c.47998G>C (p.Asp16000His)
|
rs201388509
|
0.00051
|
|
NM_001267550.2(TTN):c.55079C>T (p.Pro18360Leu)
|
rs192788942
|
0.00051
|
|
NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly)
|
rs56391938
|
0.00051
|
|
NM_001267550.2(TTN):c.87611C>G (p.Thr29204Arg)
|
rs72648228
|
0.00051
|
|
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile)
|
rs180975448
|
0.00051
|
|
NM_001291303.3(FAT4):c.8290A>C (p.Asn2764His)
|
rs147281598
|
0.00051
|
|
NM_001292063.2(OTOG):c.6937C>T (p.Pro2313Ser)
|
rs543999548
|
0.00051
|
|
NM_001292063.2(OTOG):c.7975G>A (p.Val2659Met)
|
rs542442173
|
0.00051
|
|
NM_001297.5(CNGB1):c.3421G>A (p.Ala1141Thr)
|
rs201449358
|
0.00051
|
|
NM_001330078.2(NRXN1):c.1365T>C (p.Leu455=)
|
rs201727684
|
0.00051
|
|
NM_001355436.2(SPTB):c.3016G>A (p.Ala1006Thr)
|
rs151112486
|
0.00051
|
|
NM_001355436.2(SPTB):c.6174G>A (p.Thr2058=)
|
rs146561732
|
0.00051
|
|
NM_001365276.2(TNXB):c.3226G>A (p.Asp1076Asn)
|
rs202227084
|
0.00051
|
|
NM_001367624.2(ZNF469):c.8344C>T (p.His2782Tyr)
|
rs553227769
|
0.00051
|
|
NM_001370466.1(NOD2):c.2672C>A (p.Ala891Asp)
|
rs104895452
|
0.00051
|
|
NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp)
|
rs104895427
|
0.00051
|
|
NM_001377.3(DYNC2H1):c.33C>T (p.Leu11=)
|
rs373977008
|
0.00051
|
|
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala)
|
rs200467041
|
0.00051
|
|
NM_001378609.3(OTOGL):c.6613G>T (p.Ala2205Ser)
|
rs374634079
|
0.00051
|
|
NM_001378615.1(CC2D2A):c.3577A>G (p.Ile1193Val)
|
rs188891842
|
0.00051
|
|
NM_001378615.1(CC2D2A):c.4648C>T (p.Leu1550=)
|
rs199861496
|
0.00051
|
|
NM_001384474.1(LOXHD1):c.1716C>T (p.Asn572=)
|
rs147582935
|
0.00051
|
|
NM_001844.5(COL2A1):c.1176C>T (p.Arg392=)
|
rs201575114
|
0.00051
|
|
NM_001848.3(COL6A1):c.1350G>A (p.Pro450=)
|
rs144887329
|
0.00051
|
|
NM_001849.4(COL6A2):c.2182G>A (p.Val728Met)
|
rs200585528
|
0.00051
|
|
NM_001852.4(COL9A2):c.335T>G (p.Leu112Arg)
|
rs143008970
|
0.00051
|
|
NM_001852.4(COL9A2):c.458C>T (p.Pro153Leu)
|
rs77937237
|
0.00051
|
|
NM_002150.3(HPD):c.1005C>G (p.Ile335Met)
|
rs137852868
|
0.00051
|
|
NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr)
|
rs112467954
|
0.00051
|
|
NM_002667.5(PLN):c.27C>T (p.Arg9=)
|
rs145623013
|
0.00051
|
|
NM_002691.4(POLD1):c.1061C>T (p.Ala354Val)
|
rs140990974
|
0.00051
|
|
NM_003072.5(SMARCA4):c.2967C>T (p.Pro989=)
|
rs149874634
|
0.00051
|
|
NM_003240.5(LEFTY2):c.275C>T (p.Ser92Leu)
|
rs366439
|
0.00051
|
|
NM_003321.5(TUFM):c.64G>A (p.Gly22Ser)
|
rs116562140
|
0.00051
|
|
NM_003361.4(UMOD):c.1406C>T (p.Thr469Met)
|
rs143583842
|
0.00051
|
|
NM_003383.5(VLDLR):c.2371G>A (p.Val791Ile)
|
rs35334949
|
0.00051
|
|
NM_003384.3(VRK1):c.858G>T (p.Met286Ile)
|
rs139476915
|
0.00051
|
|
NM_003482.4(KMT2D):c.7301C>A (p.Ala2434Asp)
|
rs201114196
|
0.00051
|
|
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln)
|
rs146906267
|
0.00051
|
|
NM_003738.5(PTCH2):c.1993C>T (p.Arg665Cys)
|
rs138324984
|
0.00051
|
|
NM_003922.4(HERC1):c.9439G>A (p.Val3147Ile)
|
rs200243610
|
0.00051
|
|
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys)
|
rs140592056
|
0.00051
|
|
NM_004369.4(COL6A3):c.5619C>T (p.His1873=)
|
rs146355600
|
0.00051
|
|
NM_004385.5(VCAN):c.1931C>T (p.Pro644Leu)
|
rs148104757
|
0.00051
|
|
NM_004393.6(DAG1):c.1212G>A (p.Thr404=)
|
rs139781017
|
0.00051
|
|
NM_004447.6(EPS8):c.197G>A (p.Arg66His)
|
rs77383735
|
0.00051
|
|
NM_004568.6(SERPINB6):c.314C>A (p.Ser105Tyr)
|
rs148530934
|
0.00051
|
|
NM_004646.4(NPHS1):c.1619C>A (p.Ala540Glu)
|
rs149598144
|
0.00051
|
|
NM_004933.3(CDH15):c.365C>T (p.Ala122Val)
|
rs121434541
|
0.00051
|
|
NM_005529.7(HSPG2):c.5705G>A (p.Gly1902Asp)
|
rs553885469
|
0.00051
|
|
NM_005677.4(COLQ):c.167C>T (p.Pro56Leu)
|
rs768517440
|
0.00051
|
|
NM_006180.6(NTRK2):c.31G>T (p.Ala11Ser)
|
rs78936193
|
0.00051
|
|
NM_006662.3(SRCAP):c.8531G>C (p.Gly2844Ala)
|
rs143277114
|
0.00051
|
|
NM_006755.2(TALDO1):c.181C>G (p.Leu61Val)
|
rs149640294
|
0.00051
|
|
NM_006904.7(PRKDC):c.7204C>T (p.Leu2402Phe)
|
rs374403400
|
0.00051
|
|
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)
|
rs77130927
|
0.00051
|
|
NM_012210.4(TRIM32):c.276C>T (p.Ser92=)
|
rs140589523
|
0.00051
|
|
NM_013382.7(POMT2):c.229G>A (p.Asp77Asn)
|
rs200992827
|
0.00051
|
|
NM_014000.3(VCL):c.2521G>C (p.Asp841His)
|
rs150385900
|
0.00051
|
|
NM_014336.5(AIPL1):c.97-15C>T
|
rs190887679
|
0.00051
|
|
NM_014516.4(CNOT3):c.910G>A (p.Gly304Ser)
|
rs149108037
|
0.00051
|
|
NM_014629.4(ARHGEF10):c.2063G>A (p.Ser688Asn)
|
rs143290224
|
0.00051
|
|
NM_014844.5(TECPR2):c.4033G>A (p.Ala1345Thr)
|
rs77170608
|
0.00051
|
|
NM_014920.5(CILK1):c.1702A>G (p.Met568Val)
|
rs145842629
|
0.00051
|
|
NM_015466.4(PTPN23):c.3051G>C (p.Gln1017His)
|
rs201017613
|
0.00051
|
|
NM_015922.3(NSDHL):c.65C>T (p.Thr22Ile)
|
rs375100066
|
0.00051
|
|
NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr)
|
rs201878539
|
0.00051
|
|
NM_016203.4(PRKAG2):c.712G>A (p.Ala238Thr)
|
rs200736454
|
0.00051
|
|
NM_016239.4(MYO15A):c.877G>A (p.Asp293Asn)
|
rs201415651
|
0.00051
|
|
NM_016929.5(CLIC5):c.253G>A (p.Val85Ile)
|
rs199808624
|
0.00051
|
|
NM_018055.5(NODAL):c.904C>T (p.Arg302Cys)
|
rs150819707
|
0.00051
|
|
NM_020366.4(RPGRIP1):c.2550G>A (p.Gln850=)
|
rs200268506
|
0.00051
|
|
NM_020461.4(TUBGCP6):c.1539C>T (p.Cys513=)
|
rs149982006
|
0.00051
|
|
NM_020779.4(WDR35):c.1072G>A (p.Val358Ile)
|
rs151227688
|
0.00051
|
|
NM_020975.6(RET):c.405C>T (p.Gly135=)
|
rs142345108
|
0.00051
|
|
NM_022041.4(GAN):c.730A>G (p.Ile244Val)
|
rs200749953
|
0.00051
|
|
NM_022437.3(ABCG8):c.1416C>T (p.Tyr472=)
|
rs144399404
|
0.00051
|
|
NM_022437.3(ABCG8):c.1839T>C (p.Tyr613=)
|
rs147582834
|
0.00051
|
|
NM_022552.5(DNMT3A):c.640-1439G>A
|
rs150451861
|
0.00051
|
|
NM_024513.4(FYCO1):c.56-4A>G
|
rs150959263
|
0.00051
|
|
NM_024675.4(PALB2):c.23C>T (p.Pro8Leu)
|
rs150390726
|
0.00051
|
|
NM_025074.7(FRAS1):c.3010+9G>A
|
rs148841455
|
0.00051
|
|
NM_031372.4(HNRNPDL):c.274T>C (p.Ser92Pro)
|
rs199543859
|
0.00051
|
|
NM_032119.4(ADGRV1):c.684T>C (p.Asn228=)
|
rs181889432
|
0.00051
|
|
NM_032382.5(COG8):c.1017C>T (p.Gly339=)
|
rs72795277
|
0.00051
|
|
NM_032382.5(COG8):c.249C>G (p.Ala83=)
|
rs144030835
|
0.00051
|
|
NM_032620.4(GTPBP3):c.614A>G (p.Tyr205Cys)
|
rs149839355
|
0.00051
|
|
NM_033100.4(CDHR1):c.2176C>T (p.Arg726Cys)
|
rs141706561
|
0.00051
|
|
NM_033118.4(MYLK2):c.1253C>T (p.Thr418Ile)
|
rs144129296
|
0.00051
|
|
NM_033118.4(MYLK2):c.1778C>T (p.Ala593Val)
|
rs146497334
|
0.00051
|
|
NM_033629.6(TREX1):c.679G>A (p.Gly227Ser)
|
rs113107733
|
0.00051
|
|
NM_080680.3(COL11A2):c.517C>T (p.Arg173Trp)
|
rs146522169
|
0.00051
|
|
NM_080911.3(UNG):c.194C>T (p.Pro65Leu)
|
rs199956941
|
0.00051
|
|
NM_133259.4(LRPPRC):c.74G>A (p.Arg25His)
|
rs780400922
|
0.00051
|
|
NM_144599.5(NIPA1):c.312G>A (p.Pro104=)
|
rs139372534
|
0.00051
|
|
NM_144670.6(A2ML1):c.174_175dup (p.Lys59fs)
|
rs745711489
|
0.00051
|
|
NM_144991.3(TSPEAR):c.365G>A (p.Arg122Gln)
|
rs141753295
|
0.00051
|
|
NM_144991.3(TSPEAR):c.943G>A (p.Val315Met)
|
rs148421362
|
0.00051
|
|
NM_145691.4(ATPAF2):c.111C>T (p.Ala37=)
|
rs34738009
|
0.00051
|
|
NM_145691.4(ATPAF2):c.805G>A (p.Gly269Ser)
|
rs142604577
|
0.00051
|
|
NM_173689.7(CRB2):c.755-12G>A
|
rs199716560
|
0.00051
|
|
NM_182894.3(VSX2):c.939T>A (p.Ala313=)
|
rs372651860
|
0.00051
|
|
NM_182914.3(SYNE2):c.16591C>A (p.Pro5531Thr)
|
rs145036293
|
0.00051
|
|
NM_182914.3(SYNE2):c.8761A>C (p.Lys2921Gln)
|
rs182683822
|
0.00051
|
|
NM_201253.3(CRB1):c.1533C>T (p.Ala511=)
|
rs142224492
|
0.00051
|
|
NM_201384.3(PLEC):c.10302C>A (p.Thr3434=)
|
rs199879193
|
0.00051
|
|
NM_201384.3(PLEC):c.540C>T (p.Cys180=)
|
rs189256993
|
0.00051
|
|
NM_201384.3(PLEC):c.8763G>A (p.Thr2921=)
|
rs377001239
|
0.00051
|
|
NM_206933.4(USH2A):c.10741-8G>A
|
rs369968349
|
0.00051
|
|
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys)
|
rs200038092
|
0.00051
|
|
NM_000041.4(APOE):c.761T>A (p.Val254Glu)
|
rs199768005
|
0.00050
|
|
NM_000069.3(CACNA1S):c.-4A>G
|
rs200408018
|
0.00050
|
|
NM_000094.4(COL7A1):c.5572G>A (p.Glu1858Lys)
|
rs147633212
|
0.00050
|
|
NM_000182.5(HADHA):c.652G>C (p.Val218Leu)
|
rs71441018
|
0.00050
|
|
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=)
|
rs141153056
|
0.00050
|
|
NM_000207.3(INS):c.227G>A (p.Ser76Asn)
|
rs139264769
|
0.00050
|
|
NM_000211.5(ITGB2):c.853C>T (p.Arg285Cys)
|
rs137959302
|
0.00050
|
|
NM_000246.4(CIITA):c.931A>G (p.Met311Val)
|
rs140139362
|
0.00050
|
|
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)
|
rs45496496
|
0.00050
|
|
NM_000426.4(LAMA2):c.8761G>A (p.Asp2921Asn)
|
rs139159258
|
0.00050
|
|
NM_000447.3(PSEN2):c.336C>T (p.Tyr112=)
|
rs200610057
|
0.00050
|
|
NM_000465.4(BARD1):c.144G>A (p.Leu48=)
|
rs151168457
|
0.00050
|
|
NM_000520.6(HEXA):c.-4G>A
|
rs766510036
|
0.00050
|
|
NM_000532.5(PCCB):c.603T>C (p.Ala201=)
|
rs141340198
|
0.00050
|
|
NM_000540.3(RYR1):c.13999-19G>A
|
rs775494152
|
0.00050
|
|
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val)
|
rs150195368
|
0.00050
|
|
NM_000687.4(AHCY):c.390C>T (p.Asp130=)
|
rs143931269
|
0.00050
|
|
NM_000787.4(DBH):c.807C>T (p.Cys269=)
|
rs141816448
|
0.00050
|
|
NM_001005242.3(PKP2):c.1379-2109G>A
|
rs139159464
|
0.00050
|
|
NM_001008216.2(GALE):c.873+13_873+14insA
|
rs765063773
|
0.00050
|
|
NM_001077365.2(POMT1):c.42C>T (p.Asp14=)
|
rs150937126
|
0.00050
|
|
NM_001084.5(PLOD3):c.335A>G (p.Asp112Gly)
|
rs200949505
|
0.00050
|
|
NM_001110792.2(MECP2):c.*1368C>A
|
rs267608355
|
0.00050
|
|
NM_001122769.3(LCA5):c.1215T>G (p.Val405=)
|
rs41270545
|
0.00050
|
|
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu)
|
rs139754493
|
0.00050
|
|
NM_001142864.4(PIEZO1):c.4274G>A (p.Ser1425Asn)
|
rs772788410
|
0.00050
|
|
NM_001146079.2(CLDN14):c.690C>T (p.His230=)
|
rs149733854
|
0.00050
|
|
NM_001148.6(ANK2):c.6228G>T (p.Lys2076Asn)
|
rs144848998
|
0.00050
|
|
NM_001164508.2(NEB):c.23524C>T (p.Arg7842Cys)
|
rs184516994
|
0.00050
|
|
NM_001202.6(BMP4):c.345C>T (p.Asn115=)
|
rs143687498
|
0.00050
|
|
NM_001324144.2(ZNF41):c.2114G>A (p.Arg705His)
|
rs144904486
|
0.00050
|
|
NM_001369369.1(FOXN1):c.1184C>T (p.Pro395Leu)
|
rs199739943
|
0.00050
|
|
NM_001378902.1(ROS1):c.1121G>C (p.Gly374Ala)
|
rs61743088
|
0.00050
|
|
NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala)
|
rs144814689
|
0.00050
|
|
NM_002227.4(JAK1):c.2841C>T (p.Asp947=)
|
rs200375330
|
0.00050
|
|
NM_002335.4(LRP5):c.1032G>C (p.Leu344=)
|
rs143499301
|
0.00050
|
|
NM_002529.4(NTRK1):c.1320C>G (p.Asn440Lys)
|
rs147443162
|
0.00050
|
|
NM_003383.5(VLDLR):c.1313G>A (p.Gly438Asp)
|
rs200605669
|
0.00050
|
|
NM_003659.4(AGPS):c.20C>T (p.Ala7Val)
|
rs539573652
|
0.00050
|
|
NM_003742.4(ABCB11):c.2927A>G (p.Gln976Arg)
|
rs199940188
|
0.00050
|
|
NM_004239.4(TRIP11):c.5537C>T (p.Thr1846Ile)
|
rs141259390
|
0.00050
|
|
NM_004369.4(COL6A3):c.9494-10C>T
|
rs184617787
|
0.00050
|
|
NM_004453.4(ETFDH):c.1375C>T (p.His459Tyr)
|
rs200111698
|
0.00050
|
|
NM_004484.4(GPC3):c.660C>T (p.Ser220=)
|
rs138450923
|
0.00050
|
|
NM_005045.4(RELN):c.1386C>T (p.Cys462=)
|
rs139321058
|
0.00050
|
|
NM_005359.6(SMAD4):c.880A>G (p.Met294Val)
|
rs7238500
|
0.00050
|
|
NM_005529.7(HSPG2):c.7337C>T (p.Ser2446Leu)
|
rs146950983
|
0.00050
|
|
NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala)
|
rs144840779
|
0.00050
|
|
NM_006493.4(CLN5):c.5C>T (p.Ala2Val)
|
rs146993892
|
0.00050
|
|
NM_014989.7(RIMS1):c.2294A>G (p.Gln765Arg)
|
rs199629596
|
0.00050
|
|
NM_015311.3(OBSL1):c.4060G>A (p.Val1354Met)
|
rs144083909
|
0.00050
|
|
NM_017534.6(MYH2):c.87T>C (p.Asn29=)
|
rs148217318
|
0.00050
|
|
NM_018451.5(CENPJ):c.2432T>A (p.Val811Asp)
|
rs151299406
|
0.00050
|
|
NM_020884.7(MYH7B):c.5372A>C (p.Lys1791Thr)
|
rs191392262
|
0.00050
|
|
NM_020975.6(RET):c.*29C>A
|
rs199639914
|
0.00050
|
|
NM_020987.5(ANK3):c.315+10A>G
|
rs202079424
|
0.00050
|
|
NM_021870.3(FGG):c.140C>T (p.Thr47Ile)
|
rs138511699
|
0.00050
|
|
NM_022089.4(ATP13A2):c.2331C>T (p.His777=)
|
rs144708504
|
0.00050
|
|
NM_024079.5(ALG8):c.869A>G (p.Asn290Ser)
|
rs61995923
|
0.00050
|
|
NM_024408.4(NOTCH2):c.6363G>C (p.Lys2121Asn)
|
rs144047610
|
0.00050
|
|
NM_031433.4(MFRP):c.976-14A>C
|
rs200069261
|
0.00050
|
|
NM_031935.3(HMCN1):c.7345A>G (p.Met2449Val)
|
rs199613884
|
0.00050
|
|
NM_032119.4(ADGRV1):c.13654-7C>T
|
rs373551551
|
0.00050
|
|
NM_138694.4(PKHD1):c.11507-11C>T
|
rs201478327
|
0.00050
|
|
NM_144991.3(TSPEAR):c.1979T>G (p.Leu660Arg)
|
rs140818230
|
0.00050
|
|
NM_152296.5(ATP1A3):c.1387C>T (p.Arg463Cys)
|
rs150785666
|
0.00050
|
|
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met)
|
rs150783688
|
0.00050
|
|
NM_182961.4(SYNE1):c.17542-7G>A
|
rs199762799
|
0.00050
|
|
NM_183357.3(ADCY5):c.2866G>A (p.Asp956Asn)
|
rs200892634
|
0.00050
|
|
NM_206933.4(USH2A):c.8600C>T (p.Ser2867Leu)
|
rs145468090
|
0.00050
|
|
NM_000023.4(SGCA):c.690G>C (p.Leu230=)
|
rs139454982
|
0.00049
|
|
NM_000096.4(CP):c.2554+8C>T
|
rs749646388
|
0.00049
|
|
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser)
|
rs146166400
|
0.00049
|
|
NM_000170.3(GLDC):c.2328C>T (p.Leu776=)
|
rs149600380
|
0.00049
|
|
NM_000186.4(CFH):c.285T>C (p.Thr95=)
|
rs148182625
|
0.00049
|
|
NM_000231.3(SGCG):c.832G>A (p.Gly278Ser)
|
rs147820869
|
0.00049
|
|
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys)
|
rs199810429
|
0.00049
|
|
NM_000352.6(ABCC8):c.3867+7G>A
|
rs372198547
|
0.00049
|
|
NM_000497.4(CYP11B1):c.29G>A (p.Cys10Tyr)
|
rs6405
|
0.00049
|
|
NM_000535.7(PMS2):c.354-34C>G
|
rs200029834
|
0.00049
|
|
NM_000540.3(RYR1):c.9261C>T (p.Ile3087=)
|
rs56338790
|
0.00049
|
|
NM_000552.5(VWF):c.1753G>A (p.Ala585Thr)
|
rs141777100
|
0.00049
|
|
NM_001005242.3(PKP2):c.1379-2019C>T
|
rs149930872
|
0.00049
|
|
NM_001035.3(RYR2):c.9450-3T>C
|
rs188671846
|
0.00049
|
|
NM_001113525.2(ZNF276):c.*470A>C
|
rs372268907
|
0.00049
|
|
NM_001142416.2(AIMP1):c.592C>T (p.Pro198Ser)
|
rs138106524
|
0.00049
|
|
NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro)
|
rs778646190
|
0.00049
|
|
NM_001164508.2(NEB):c.10201T>A (p.Ser3401Thr)
|
rs199847072
|
0.00049
|
|
NM_001171.6(ABCC6):c.1540G>A (p.Val514Ile)
|
rs59157279
|
0.00049
|
|
NM_001191061.2(SLC25A22):c.327G>A (p.Ala109=)
|
rs141975755
|
0.00049
|
|
NM_001199753.2(CPT1C):c.2092A>G (p.Asn698Asp)
|
rs143091111
|
0.00049
|
|
NM_001242896.3(DEPDC5):c.1525C>T (p.Arg509Cys)
|
rs202083639
|
0.00049
|
|
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly)
|
rs147946775
|
0.00049
|
|
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr)
|
rs72650064
|
0.00049
|
|
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile)
|
rs200650668
|
0.00049
|
|
NM_001267550.2(TTN):c.57808G>C (p.Val19270Leu)
|
rs369440319
|
0.00049
|
|
NM_001271.4(CHD2):c.4762C>T (p.Arg1588Trp)
|
rs139646715
|
0.00049
|
|
NM_001277115.2(DNAH11):c.7294C>T (p.Arg2432Trp)
|
rs188615176
|
0.00049
|
|
NM_001291303.3(FAT4):c.131A>C (p.Glu44Ala)
|
rs200221425
|
0.00049
|
|
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys)
|
rs147415641
|
0.00049
|
|
NM_001330260.2(SCN8A):c.4155A>C (p.Thr1385=)
|
rs144424662
|
0.00049
|
|
NM_001365276.2(TNXB):c.1927A>G (p.Thr643Ala)
|
rs201703963
|
0.00049
|
|
NM_001378609.3(OTOGL):c.124G>A (p.Gly42Arg)
|
rs149117887
|
0.00049
|
|
NM_001384140.1(PCDH15):c.4671+1046A>G
|
rs201855435
|
0.00049
|
|
NM_001386140.1(MTTP):c.1874C>T (p.Pro625Leu)
|
rs146045390
|
0.00049
|
|
NM_001395413.1(POR):c.390C>T (p.Asn130=)
|
rs181837747
|
0.00049
|
|
NM_001966.4(EHHADH):c.78G>A (p.Thr26=)
|
rs150381945
|
0.00049
|
|
NM_002317.7(LOX):c.388T>C (p.Ser130Pro)
|
rs139035462
|
0.00049
|
|
NM_002838.5(PTPRC):c.3073-6A>G
|
rs191867796
|
0.00049
|
|
NM_002887.4(RARS1):c.206C>T (p.Pro69Leu)
|
rs34446466
|
0.00049
|
|
NM_003705.5(SLC25A12):c.1654G>A (p.Ala552Thr)
|
rs142912356
|
0.00049
|
|
NM_003978.5(PSTPIP1):c.1213C>T (p.Arg405Cys)
|
rs201253322
|
0.00049
|
|
NM_004132.5(HABP2):c.396C>T (p.Pro132=)
|
rs111397043
|
0.00049
|
|
NM_004239.4(TRIP11):c.4620T>C (p.Val1540=)
|
rs72705400
|
0.00049
|
|
NM_004273.5(CHST3):c.1135C>T (p.Leu379=)
|
rs564028722
|
0.00049
|
|
NM_004380.3(CREBBP):c.2950A>T (p.Asn984Tyr)
|
rs140406003
|
0.00049
|
|
NM_004407.4(DMP1):c.1107C>T (p.Asp369=)
|
rs147451774
|
0.00049
|
|
NM_004517.4(ILK):c.157T>A (p.Leu53Met)
|
rs200336608
|
0.00049
|
|
NM_004990.4(MARS1):c.2116C>T (p.Arg706Cys)
|
rs148501787
|
0.00049
|
|
NM_005373.3(MPL):c.1336G>A (p.Gly446Arg)
|
rs561818288
|
0.00049
|
|
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile)
|
rs149159881
|
0.00049
|
|
NM_005886.3(KATNB1):c.1046+9C>G
|
rs372112294
|
0.00049
|
|
NM_006214.4(PHYH):c.678+5G>T
|
rs201499815
|
0.00049
|
|
NM_006231.4(POLE):c.4730A>C (p.Glu1577Ala)
|
rs5744948
|
0.00049
|
|
NM_006445.4(PRPF8):c.6792G>A (p.Ser2264=)
|
rs369391284
|
0.00049
|
|
NM_006642.5(SDCCAG8):c.547-4T>G
|
rs12080579
|
0.00049
|
|
NM_006767.4(LZTR1):c.652-10C>A
|
rs200169897
|
0.00049
|
|
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu)
|
rs45487699
|
0.00049
|
|
NM_014283.5(SUCO):c.131A>G (p.Asp44Gly)
|
rs145307638
|
0.00049
|
|
NM_015662.3(IFT172):c.2597A>G (p.Gln866Arg)
|
rs139229844
|
0.00049
|
|
NM_015909.4(NBAS):c.5465A>C (p.Asn1822Thr)
|
rs199717686
|
0.00049
|
|
NM_016239.4(MYO15A):c.4497G>T (p.Glu1499Asp)
|
rs149813580
|
0.00049
|
|
NM_016239.4(MYO15A):c.9322G>A (p.Val3108Ile)
|
rs201734915
|
0.00049
|
|
NM_017433.5(MYO3A):c.3037C>T (p.Arg1013Cys)
|
rs140154015
|
0.00049
|
|
NM_017739.4(POMGNT1):c.421-7C>A
|
rs189274856
|
0.00049
|
|
NM_017763.6(RNF43):c.319G>A (p.Val107Ile)
|
rs199909371
|
0.00049
|
|
NM_017882.3(CLN6):c.487-15C>T
|
rs200775021
|
0.00049
|
|
NM_018136.5(ASPM):c.8068C>T (p.Arg2690Trp)
|
rs41302133
|
0.00049
|
|
NM_018668.5(VPS33B):c.1362C>T (p.Ala454=)
|
rs142964161
|
0.00049
|
|
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val)
|
rs138937107
|
0.00049
|
|
NM_020975.6(RET):c.-2C>A
|
rs876657980
|
0.00049
|
|
NM_022168.4(IFIH1):c.1583T>G (p.Leu528Arg)
|
rs142348767
|
0.00049
|
|
NM_024312.5(GNPTAB):c.500T>A (p.Ile167Asn)
|
rs143907628
|
0.00049
|
|
NM_024824.5(ZC3H14):c.2130G>A (p.Pro710=)
|
rs149865117
|
0.00049
|
|
NM_025074.7(FRAS1):c.5725G>A (p.Val1909Ile)
|
rs182652779
|
0.00049
|
|
NM_032119.4(ADGRV1):c.2112G>A (p.Pro704=)
|
rs182990046
|
0.00049
|
|
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu)
|
rs139287784
|
0.00049
|
|
NM_033337.3(CAV3):c.276C>T (p.Phe92=)
|
rs72546669
|
0.00049
|
|
NM_033337.3(CAV3):c.443G>A (p.Arg148Gln)
|
rs140575619
|
0.00049
|
|
NM_052989.3(IFT122):c.986C>T (p.Ala329Val)
|
rs200915373
|
0.00049
|
|
NM_138694.4(PKHD1):c.10531G>A (p.Gly3511Arg)
|
rs112030234
|
0.00049
|
|
NM_145207.3(AFG2A):c.1159C>T (p.Pro387Ser)
|
rs201751275
|
0.00049
|
|
NM_145207.3(AFG2A):c.1622C>G (p.Pro541Arg)
|
rs143957561
|
0.00049
|
|
NM_148960.3(CLDN19):c.229A>G (p.Ile77Val)
|
rs140190002
|
0.00049
|
|
NM_152564.5(VPS13B):c.1981G>A (p.Asp661Asn)
|
rs149334616
|
0.00049
|
|
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr)
|
rs62645749
|
0.00049
|
|
NM_201384.3(PLEC):c.10509G>A (p.Ala3503=)
|
rs189859084
|
0.00049
|
|
NM_201384.3(PLEC):c.13182C>T (p.Thr4394=)
|
rs373958891
|
0.00049
|
|
NM_201384.3(PLEC):c.5227G>A (p.Ala1743Thr)
|
rs781946435
|
0.00049
|
|
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met)
|
rs142381713
|
0.00049
|
|
NM_000038.6(APC):c.295C>T (p.Arg99Trp)
|
rs139196838
|
0.00048
|
|
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile)
|
rs28897744
|
0.00048
|
|
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly)
|
rs28897745
|
0.00048
|
|
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=)
|
rs80359810
|
0.00048
|
|
NM_000070.3(CAPN3):c.1663G>A (p.Val555Ile)
|
rs138172448
|
0.00048
|
|
NM_000092.5(COL4A4):c.2241C>T (p.Pro747=)
|
rs374510402
|
0.00048
|
|
NM_000098.3(CPT2):c.1598T>C (p.Val533Ala)
|
rs144703247
|
0.00048
|
|
NM_000130.5(F5):c.885C>T (p.Thr295=)
|
rs148752831
|
0.00048
|
|
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val)
|
rs61753269
|
0.00048
|
|
NM_000179.3(MSH6):c.2667G>T (p.Gln889His)
|
rs149945495
|
0.00048
|
|
NM_000208.4(INSR):c.2573C>T (p.Thr858Met)
|
rs201466857
|
0.00048
|
|
NM_000211.5(ITGB2):c.1413-8G>A
|
rs375743879
|
0.00048
|
|
NM_000246.4(CIITA):c.2651G>A (p.Arg884His)
|
rs374443915
|
0.00048
|
|
NM_000260.4(MYO7A):c.676G>A (p.Ala226Thr)
|
rs201753022
|
0.00048
|
|
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=)
|
rs114687267
|
0.00048
|
|
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser)
|
rs41311127
|
0.00048
|
|
NM_000350.3(ABCA4):c.*299G>C
|
rs538804441
|
0.00048
|
|
NM_000503.6(EYA1):c.1699-8T>C
|
rs201537030
|
0.00048
|
|
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp)
|
rs115670442
|
0.00048
|
|
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly)
|
rs201492706
|
0.00048
|
|
NM_001005498.4(RHBDF2):c.1486A>G (p.Lys496Glu)
|
rs150723002
|
0.00048
|
|
NM_001035.3(RYR2):c.10231-4T>C
|
rs117180147
|
0.00048
|
|
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)
|
rs200525962
|
0.00048
|
|
NM_001039141.3(TRIOBP):c.2835C>G (p.Asp945Glu)
|
rs200608722
|
0.00048
|
|
NM_001039213.4(CEACAM16):c.781G>A (p.Glu261Lys)
|
rs201188632
|
0.00048
|
|
NM_001082538.3(TCTN1):c.1563C>T (p.Tyr521=)
|
rs368907353
|
0.00048
|
|
NM_001105206.3(LAMA4):c.*1C>T
|
rs148811960
|
0.00048
|
|
NM_001105206.3(LAMA4):c.3055T>C (p.Tyr1019His)
|
rs73532636
|
0.00048
|
|
NM_001114134.2(EPB42):c.1602G>A (p.Thr534=)
|
rs149742998
|
0.00048
|
|
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu)
|
rs144245125
|
0.00048
|
|
NM_001126108.2(SLC12A3):c.1386C>T (p.Phe462=)
|
rs142199602
|
0.00048
|
|
NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro)
|
rs147200024
|
0.00048
|
|
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=)
|
rs544993852
|
0.00048
|
|
NM_001146079.2(CLDN14):c.185A>G (p.Tyr62Cys)
|
rs148223897
|
0.00048
|
|
NM_001164277.2(SLC37A4):c.1168C>T (p.His390Tyr)
|
rs199764888
|
0.00048
|
|
NM_001164508.2(NEB):c.19315-10T>C
|
rs201473873
|
0.00048
|
|
NM_001164508.2(NEB):c.3255C>T (p.Asp1085=)
|
rs368625295
|
0.00048
|
|
NM_001267550.2(TTN):c.30181A>C (p.Lys10061Gln)
|
rs184153985
|
0.00048
|
|
NM_001267550.2(TTN):c.55417A>G (p.Arg18473Gly)
|
rs72646822
|
0.00048
|
|
NM_001267550.2(TTN):c.95270T>C (p.Ile31757Thr)
|
rs72648259
|
0.00048
|
|
NM_001277115.2(DNAH11):c.6352G>A (p.Gly2118Ser)
|
rs72657342
|
0.00048
|
|
NM_001291303.3(FAT4):c.12342C>G (p.Ile4114Met)
|
rs150804471
|
0.00048
|
|
NM_001291303.3(FAT4):c.13417G>A (p.Val4473Ile)
|
rs145835705
|
0.00048
|
|
NM_001292063.2(OTOG):c.335C>G (p.Ala112Gly)
|
rs545257884
|
0.00048
|
|
NM_001292063.2(OTOG):c.4246C>T (p.Arg1416Trp)
|
rs559512010
|
0.00048
|
|
NM_001355436.2(SPTB):c.3479G>A (p.Arg1160His)
|
rs76283214
|
0.00048
|
|
NM_001355436.2(SPTB):c.4075C>T (p.Arg1359Trp)
|
rs189656371
|
0.00048
|
|
NM_001361.5(DHODH):c.804C>T (p.Ala268=)
|
rs374538940
|
0.00048
|
|
NM_001368894.2(PAX6):c.1032G>A (p.Pro344=)
|
rs146261351
|
0.00048
|
|
NM_001370466.1(NOD2):c.193G>A (p.Val65Ile)
|
rs187264529
|
0.00048
|
|
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val)
|
rs201819880
|
0.00048
|
|
NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala)
|
rs200054604
|
0.00048
|
|
NM_001379610.1(SPINK1):c.33C>T (p.Ala11=)
|
rs147454311
|
0.00048
|
|
NM_001384140.1(PCDH15):c.1256A>G (p.Asn419Ser)
|
rs143827620
|
0.00048
|
|
NM_001384732.1(CPLANE1):c.4793C>A (p.Thr1598Lys)
|
rs147588579
|
0.00048
|
|
NM_001429.4(EP300):c.3105C>T (p.Thr1035=)
|
rs150498069
|
0.00048
|
|
NM_001457.4(FLNB):c.6173A>G (p.Lys2058Arg)
|
rs141698427
|
0.00048
|
|
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr)
|
rs751749989
|
0.00048
|
|
NM_001849.4(COL6A2):c.1944C>T (p.Ile648=)
|
rs148178994
|
0.00048
|
|
NM_002335.4(LRP5):c.4256A>G (p.Asn1419Ser)
|
rs145750689
|
0.00048
|
|
NM_003184.4(TAF2):c.3320T>G (p.Leu1107Arg)
|
rs546468025
|
0.00048
|
|
NM_003235.5(TG):c.3139+9G>A
|
rs201582196
|
0.00048
|
|
NM_003480.4(MFAP5):c.236A>T (p.Asn79Ile)
|
rs139330366
|
0.00048
|
|
NM_003850.3(SUCLA2):c.255A>G (p.Ala85=)
|
rs149108442
|
0.00048
|
|
NM_003907.3(EIF2B5):c.299C>T (p.Ala100Val)
|
rs150531914
|
0.00048
|
|
NM_004046.6(ATP5F1A):c.416A>G (p.Asp139Gly)
|
rs148515768
|
0.00048
|
|
NM_004268.5(MED17):c.1748G>A (p.Arg583His)
|
rs548231700
|
0.00048
|
|
NM_004273.5(CHST3):c.348G>T (p.Glu116Asp)
|
rs144885813
|
0.00048
|
|
NM_004393.6(DAG1):c.1022C>T (p.Thr341Ile)
|
rs148759919
|
0.00048
|
|
NM_004415.4(DSP):c.1574+14G>T
|
rs200443042
|
0.00048
|
|
NM_004463.3(FGD1):c.2816A>C (p.Glu939Ala)
|
rs147012050
|
0.00048
|
|
NM_004589.4(SCO1):c.41C>T (p.Pro14Leu)
|
rs141606021
|
0.00048
|
|
NM_004817.4(TJP2):c.908C>T (p.Pro303Leu)
|
rs199641113
|
0.00048
|
|
NM_005477.3(HCN4):c.1371+9G>A
|
rs200303699
|
0.00048
|
|
NM_005816.5(CD96):c.1247A>T (p.Gln416Leu)
|
rs148659928
|
0.00048
|
|
NM_005886.3(KATNB1):c.1110C>T (p.Arg370=)
|
rs146443074
|
0.00048
|
|
NM_006005.3(WFS1):c.2424C>T (p.Ser808=)
|
rs56035336
|
0.00048
|
|
NM_006017.3(PROM1):c.914C>T (p.Pro305Leu)
|
rs142245630
|
0.00048
|
|
NM_006204.4(PDE6C):c.219G>T (p.Gly73=)
|
rs140469169
|
0.00048
|
|
NM_006904.7(PRKDC):c.6901C>G (p.Gln2301Glu)
|
rs376211703
|
0.00048
|
|
NM_007078.3(LDB3):c.1312A>G (p.Thr438Ala)
|
rs111941389
|
0.00048
|
|
NM_012144.4(DNAI1):c.1145G>A (p.Ser382Asn)
|
rs141690214
|
0.00048
|
|
NM_012254.3(SLC27A5):c.1377+10C>T
|
rs146267408
|
0.00048
|
|
NM_012470.4(TNPO3):c.120+9C>A
|
rs372906002
|
0.00048
|
|
NM_014049.5(ACAD9):c.195T>C (p.Asn65=)
|
rs144978857
|
0.00048
|
|
NM_014141.6(CNTNAP2):c.2651G>A (p.Arg884Gln)
|
rs758630057
|
0.00048
|
|
NM_014714.4(IFT140):c.1593G>T (p.Gly531=)
|
rs143491016
|
0.00048
|
|
NM_015102.5(NPHP4):c.1935A>G (p.Leu645=)
|
rs200104274
|
0.00048
|
|
NM_015512.5(DNAH1):c.8885A>C (p.Lys2962Thr)
|
rs199602894
|
0.00048
|
|
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met)
|
rs141098495
|
0.00048
|
|
NM_017617.5(NOTCH1):c.3970G>A (p.Val1324Met)
|
rs149057410
|
0.00048
|
|
NM_017866.6(TMEM70):c.97C>A (p.Arg33=)
|
rs145329086
|
0.00048
|
|
NM_018006.5(TRMU):c.772+8G>A
|
rs201372242
|
0.00048
|
|
NM_018129.4(PNPO):c.723C>G (p.Ser241=)
|
rs144362146
|
0.00048
|
|
NM_020376.4(PNPLA2):c.487-8C>T
|
rs201418203
|
0.00048
|
|
NM_020433.5(JPH2):c.572C>G (p.Pro191Arg)
|
rs554853074
|
0.00048
|
|
NM_020745.4(AARS2):c.2630G>A (p.Arg877Gln)
|
rs141941157
|
0.00048
|
|
NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys)
|
rs147306623
|
0.00048
|
|
NM_021098.3(CACNA1H):c.3589G>A (p.Glu1197Lys)
|
rs751423106
|
0.00048
|
|
NM_022114.4(PRDM16):c.481A>G (p.Asn161Asp)
|
rs374664141
|
0.00048
|
|
NM_022725.4(FANCF):c.241G>T (p.Ala81Ser)
|
rs145057187
|
0.00048
|
|
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg)
|
rs199714523
|
0.00048
|
|
NM_024753.5(TTC21B):c.880G>T (p.Ala294Ser)
|
rs141240501
|
0.00048
|
|
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln)
|
rs201891953
|
0.00048
|
|
NM_025193.4(HSD3B7):c.695-6C>T
|
rs139152685
|
0.00048
|
|
NM_030787.4(CFHR5):c.835T>A (p.Tyr279Asn)
|
rs143240067
|
0.00048
|
|
NM_032119.4(ADGRV1):c.10149C>T (p.Ser3383=)
|
rs376298949
|
0.00048
|
|
NM_033004.4(NLRP1):c.2009C>T (p.Thr670Ile)
|
rs61753139
|
0.00048
|
|
NM_033004.4(NLRP1):c.2056A>G (p.Met686Val)
|
rs61753138
|
0.00048
|
|
NM_052845.4(MMAB):c.620C>T (p.Ala207Val)
|
rs61739388
|
0.00048
|
|
NM_052859.4(RFT1):c.520T>C (p.Leu174=)
|
rs149266076
|
0.00048
|
|
NM_133433.4(NIPBL):c.1212C>T (p.Pro404=)
|
rs80358349
|
0.00048
|
|
NM_133433.4(NIPBL):c.615G>A (p.Ser205=)
|
rs150678035
|
0.00048
|
|
NM_138694.4(PKHD1):c.6782A>G (p.Asn2261Ser)
|
rs146102132
|
0.00048
|
|
NM_138694.4(PKHD1):c.9363T>C (p.Asn3121=)
|
rs183674012
|
0.00048
|
|
NM_138773.4(SLC25A46):c.416C>A (p.Thr139Asn)
|
rs202123515
|
0.00048
|
|
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg)
|
rs139278612
|
0.00048
|
|
NM_170707.4(LMNA):c.789G>A (p.Leu263=)
|
rs148557956
|
0.00048
|
|
NM_176806.4(MOCS2):c.14G>A (p.Cys5Tyr)
|
rs572637154
|
0.00048
|
|
NM_194248.3(OTOF):c.4483C>A (p.Arg1495=)
|
rs147321712
|
0.00048
|
|
NM_198253.3(TERT):c.2130+10G>A
|
rs373879259
|
0.00048
|
|
NM_201384.3(PLEC):c.13641C>G (p.Ala4547=)
|
rs782535880
|
0.00048
|
|
NM_201384.3(PLEC):c.8496C>T (p.Arg2832=)
|
rs369013440
|
0.00048
|
|
NM_201384.3(PLEC):c.963C>T (p.Phe321=)
|
rs368425406
|
0.00048
|
|
NM_205836.3(FBXO38):c.2146A>G (p.Ser716Gly)
|
rs150893158
|
0.00048
|
|
NM_206933.4(USH2A):c.2052A>G (p.Gln684=)
|
rs111033248
|
0.00048
|
|
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg)
|
rs782161942
|
0.00047
|
|
NM_000057.4(BLM):c.3020-15C>T
|
rs200210516
|
0.00047
|
|
NM_000059.4(BRCA2):c.9843A>G (p.Pro3281=)
|
rs11571832
|
0.00047
|
|
NM_000081.4(LYST):c.9017A>G (p.Lys3006Arg)
|
rs140934482
|
0.00047
|
|
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)
|
rs143671872
|
0.00047
|
|
NM_000147.5(FUCA1):c.1119A>G (p.Lys373=)
|
rs370453371
|
0.00047
|
|
NM_000173.7(GP1BA):c.1232C>T (p.Pro411Leu)
|
rs139921368
|
0.00047
|
|
NM_000180.4(GUCY2D):c.164C>T (p.Thr55Met)
|
rs201414567
|
0.00047
|
|
NM_000198.4(HSD3B2):c.960A>C (p.Thr320=)
|
rs34412477
|
0.00047
|
|
NM_000271.5(NPC1):c.3548G>A (p.Arg1183His)
|
rs148035987
|
0.00047
|
|
NM_000452.3(SLC10A2):c.835A>T (p.Thr279Ser)
|
rs149096396
|
0.00047
|
|
NM_000455.5(STK11):c.1185A>G (p.Thr395=)
|
rs370207155
|
0.00047
|
|
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln)
|
rs137943515
|
0.00047
|
|
NM_000722.4(CACNA2D1):c.2397T>A (p.Val799=)
|
rs191213592
|
0.00047
|
|
NM_000843.4(GRM6):c.1943C>T (p.Ala648Val)
|
rs61733863
|
0.00047
|
|
NM_001018113.3(FANCB):c.989T>C (p.Ile330Thr)
|
rs200161949
|
0.00047
|
|
NM_001035.3(RYR2):c.8209-3A>G
|
rs376788358
|
0.00047
|
|
NM_001040436.3(YARS2):c.535A>C (p.Lys179Gln)
|
rs147630375
|
0.00047
|
|
NM_001042472.3(ABHD12):c.1148G>A (p.Arg383Gln)
|
rs139135254
|
0.00047
|
|
NM_001042545.2(LTBP4):c.3550C>T (p.Arg1184Trp)
|
rs34051360
|
0.00047
|
|
NM_001077525.3(MTMR14):c.1151G>A (p.Ser384Asn)
|
rs115607360
|
0.00047
|
|
NM_001080.3(ALDH5A1):c.1107C>T (p.Arg369=)
|
rs148188703
|
0.00047
|
|
NM_001110556.2(FLNA):c.1450C>T (p.Arg484Trp)
|
rs61730768
|
0.00047
|
|
NM_001142864.4(PIEZO1):c.5214+7C>T
|
rs764990602
|
0.00047
|
|
NM_001142864.4(PIEZO1):c.6781A>G (p.Ser2261Gly)
|
rs550322372
|
0.00047
|
|
NM_001164508.2(NEB):c.4198G>A (p.Ala1400Thr)
|
rs113174390
|
0.00047
|
|
NM_001174150.2(ARL13B):c.690-5G>A
|
rs373173586
|
0.00047
|
|
NM_001253697.2(ERBIN):c.122T>C (p.Ile41Thr)
|
rs141058175
|
0.00047
|
|
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln)
|
rs140714512
|
0.00047
|
|
NM_001278182.2(EOMES):c.692A>G (p.Tyr231Cys)
|
rs376621022
|
0.00047
|
|
NM_001291303.3(FAT4):c.4199G>A (p.Arg1400His)
|
rs376791829
|
0.00047
|
|
NM_001349253.2(SCN11A):c.3473T>C (p.Leu1158Pro)
|
rs141686175
|
0.00047
|
|
NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn)
|
rs146567534
|
0.00047
|
|
NM_001365276.2(TNXB):c.5938G>A (p.Ala1980Thr)
|
rs148556332
|
0.00047
|
|
NM_001370595.2(COA8):c.192C>T (p.Asn64=)
|
rs200801272
|
0.00047
|
|
NM_001374385.1(ATP8B1):c.433C>T (p.Leu145=)
|
rs140634215
|
0.00047
|
|
NM_001375808.2(LPIN2):c.2443-9C>T
|
rs191749331
|
0.00047
|
|
NM_001378120.1(MBD5):c.1055C>T (p.Thr352Ile)
|
rs145808884
|
0.00047
|
|
NM_001386795.1(DTNA):c.955A>G (p.Met319Val)
|
rs141981161
|
0.00047
|
|
NM_001457.4(FLNB):c.4978G>A (p.Ala1660Thr)
|
rs142114129
|
0.00047
|
|
NM_002185.5(IL7R):c.152C>T (p.Ser51Leu)
|
rs138482569
|
0.00047
|
|
NM_002296.4(LBR):c.1057C>T (p.Arg353Trp)
|
rs138731836
|
0.00047
|
|
NM_002485.5(NBN):c.628G>T (p.Val210Phe)
|
rs61754796
|
0.00047
|
|
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu)
|
rs149533093
|
0.00047
|
|
NM_003482.4(KMT2D):c.1149C>T (p.Asp383=)
|
rs201709328
|
0.00047
|
|
NM_003664.5(AP3B1):c.822C>T (p.Tyr274=)
|
rs112652327
|
0.00047
|
|
NM_004168.4(SDHA):c.456+6G>T
|
rs371735891
|
0.00047
|
|
NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys)
|
rs147192139
|
0.00047
|
|
NM_004252.5(NHERF1):c.657C>G (p.Ile219Met)
|
rs147104235
|
0.00047
|
|
NM_004525.3(LRP2):c.7866C>T (p.Asp2622=)
|
rs139514301
|
0.00047
|
|
NM_004722.4(AP4M1):c.1079C>A (p.Ala360Asp)
|
rs145979929
|
0.00047
|
|
NM_004859.4(CLTC):c.4493G>A (p.Arg1498His)
|
rs117813867
|
0.00047
|
|
NM_005006.7(NDUFS1):c.529A>G (p.Ile177Val)
|
rs140126185
|
0.00047
|
|
NM_005045.4(RELN):c.139G>A (p.Glu47Lys)
|
rs139648092
|
0.00047
|
|
NM_005076.5(CNTN2):c.1460C>T (p.Thr487Ile)
|
rs116647440
|
0.00047
|
|
NM_005120.3(MED12):c.2613G>A (p.Gln871=)
|
rs372344160
|
0.00047
|
|
NM_006031.6(PCNT):c.2610-8T>C
|
rs377164652
|
0.00047
|
|
NM_006231.4(POLE):c.5659G>A (p.Val1887Met)
|
rs114119067
|
0.00047
|
|
NM_007254.4(PNKP):c.188C>T (p.Ala63Val)
|
rs3739173
|
0.00047
|
|
NM_007254.4(PNKP):c.519C>T (p.Asp173=)
|
rs144284975
|
0.00047
|
|
NM_012254.3(SLC27A5):c.513C>G (p.Ala171=)
|
rs139127895
|
0.00047
|
|
NM_012254.3(SLC27A5):c.524C>T (p.Thr175Ile)
|
rs150780205
|
0.00047
|
|
NM_014014.5(SNRNP200):c.6369C>T (p.Ser2123=)
|
rs61753580
|
0.00047
|
|
NM_014140.4(SMARCAL1):c.962G>A (p.Gly321Asp)
|
rs148752234
|
0.00047
|
|
NM_014159.7(SETD2):c.1885A>G (p.Lys629Glu)
|
rs145650484
|
0.00047
|
|
NM_014363.6(SACS):c.10443C>G (p.Leu3481=)
|
rs144087359
|
0.00047
|
|
NM_015909.4(NBAS):c.5467A>T (p.Ile1823Phe)
|
rs201084909
|
0.00047
|
|
NM_016042.4(EXOSC3):c.430T>C (p.Leu144=)
|
rs138085418
|
0.00047
|
|
NM_016239.4(MYO15A):c.3203G>T (p.Cys1068Phe)
|
rs189061214
|
0.00047
|
|
NM_016553.5(NUP62):c.841A>G (p.Thr281Ala)
|
rs140091070
|
0.00047
|
|
NM_017636.4(TRPM4):c.2674C>T (p.Arg892Cys)
|
rs147854826
|
0.00047
|
|
NM_017951.5(SMPD4):c.570G>A (p.Arg190=)
|
rs143450222
|
0.00047
|
|
NM_020376.4(PNPLA2):c.492C>T (p.Tyr164=)
|
rs147314508
|
0.00047
|
|
NM_020937.4(FANCM):c.3681A>G (p.Leu1227=)
|
rs61749475
|
0.00047
|
|
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala)
|
rs201740483
|
0.00047
|
|
NM_022367.4(SEMA4A):c.1215G>T (p.Thr405=)
|
rs151260330
|
0.00047
|
|
NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile)
|
rs200776757
|
0.00047
|
|
NM_024426.6(WT1):c.1131T>C (p.Pro377=)
|
rs151034312
|
0.00047
|
|
NM_024915.4(GRHL2):c.454G>A (p.Val152Met)
|
rs147703146
|
0.00047
|
|
NM_031229.4(RBCK1):c.782A>G (p.Asn261Ser)
|
rs377605009
|
0.00047
|
|
NM_032119.4(ADGRV1):c.15169C>T (p.Pro5057Ser)
|
rs183633457
|
0.00047
|
|
NM_032444.4(SLX4):c.3189C>T (p.Gly1063=)
|
rs200742809
|
0.00047
|
|
NM_080424.4(SP110):c.1200C>T (p.Asp400=)
|
rs115361843
|
0.00047
|
|
NM_138295.5(PKD1L1):c.5108G>A (p.Arg1703His)
|
rs146605392
|
0.00047
|
|
NM_138413.4(HOGA1):c.931C>T (p.Pro311Ser)
|
rs116455504
|
0.00047
|
|
NM_152564.5(VPS13B):c.10313A>G (p.Asn3438Ser)
|
rs146460917
|
0.00047
|
|
NM_152618.3(BBS12):c.1979C>T (p.Pro660Leu)
|
rs147281546
|
0.00047
|
|
NM_152618.3(BBS12):c.978T>A (p.Thr326=)
|
rs115635198
|
0.00047
|
|
NM_152618.3(BBS12):c.979T>A (p.Ser327Thr)
|
rs116805550
|
0.00047
|
|
NM_174934.4(SCN4B):c.542T>C (p.Leu181Pro)
|
rs61065977
|
0.00047
|
|
NM_181507.2(HPS5):c.2866T>C (p.Tyr956His)
|
rs147430035
|
0.00047
|
|
NM_198239.2(CCN6):c.589+27C>T
|
rs200472841
|
0.00047
|
|
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp)
|
rs144783615
|
0.00047
|
|
NM_206933.4(USH2A):c.9203T>C (p.Val3068Ala)
|
rs146445078
|
0.00047
|
|
NM_000051.4(ATM):c.1986T>C (p.Phe662=)
|
rs1800055
|
0.00046
|
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00046
|
|
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly)
|
rs138958687
|
0.00046
|
|
NM_000078.3(CETP):c.940G>A (p.Glu314Lys)
|
rs140547417
|
0.00046
|
|
NM_000080.4(CHRNE):c.901G>A (p.Val301Met)
|
rs140023380
|
0.00046
|
|
NM_000081.4(LYST):c.143A>G (p.His48Arg)
|
rs200132460
|
0.00046
|
|
NM_000136.3(FANCC):c.705C>T (p.Pro235=)
|
rs141828876
|
0.00046
|
|
NM_000162.5(GCK):c.*11C>T
|
rs200698755
|
0.00046
|
|
NM_000235.4(LIPA):c.112-9T>C
|
rs200186130
|
0.00046
|
|
NM_000251.3(MSH2):c.815C>T (p.Ala272Val)
|
rs34136999
|
0.00046
|
|
NM_000256.3(MYBPC3):c.1246G>A (p.Gly416Ser)
|
rs371513491
|
0.00046
|
|
NM_000260.4(MYO7A):c.2097C>T (p.Gly699=)
|
rs373495082
|
0.00046
|
|
NM_000260.4(MYO7A):c.4066A>T (p.Ser1356Cys)
|
rs201195495
|
0.00046
|
|
NM_000283.4(PDE6B):c.267C>T (p.Ala89=)
|
rs147181781
|
0.00046
|
|
NM_000318.3(PEX2):c.282A>T (p.Arg94Ser)
|
rs140963177
|
0.00046
|
|
NM_000350.3(ABCA4):c.596C>T (p.Ala199Val)
|
rs145065936
|
0.00046
|
|
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val)
|
rs200754249
|
0.00046
|
|
NM_000452.3(SLC10A2):c.80A>G (p.Asn27Ser)
|
rs147075283
|
0.00046
|
|
NM_000489.6(ATRX):c.4120+4A>C
|
rs200420513
|
0.00046
|
|
NM_000492.4(CFTR):c.274-6T>C
|
rs371315549
|
0.00046
|
|
NM_000497.4(CYP11B1):c.518A>G (p.Lys173Arg)
|
rs142163070
|
0.00046
|
|
NM_000540.3(RYR1):c.9262G>A (p.Val3088Met)
|
rs145044872
|
0.00046
|
|
NM_001009944.3(PKD1):c.74G>T (p.Gly25Val)
|
rs972049140
|
0.00046
|
|
NM_001018113.3(FANCB):c.1067C>T (p.Ser356Leu)
|
rs142304943
|
0.00046
|
|
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr)
|
rs727504718
|
0.00046
|
|
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=)
|
rs373721253
|
0.00046
|
|
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=)
|
rs373282364
|
0.00046
|
|
NM_001099922.3(ALG13):c.2485A>G (p.Met829Val)
|
rs368075878
|
0.00046
|
|
NM_001105206.3(LAMA4):c.5344C>T (p.Arg1782Cys)
|
rs145897390
|
0.00046
|
|
NM_001109809.5(ZFP57):c.352+3A>G
|
rs375934044
|
0.00046
|
|
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys)
|
rs202029322
|
0.00046
|
|
NM_001110556.2(FLNA):c.3717C>T (p.Pro1239=)
|
rs372265042
|
0.00046
|
|
NM_001128178.3(NPHP1):c.771+134G>A
|
rs140151060
|
0.00046
|
|
NM_001128228.3(TPRN):c.1468G>A (p.Val490Met)
|
rs144139211
|
0.00046
|
|
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser)
|
rs141137410
|
0.00046
|
|
NM_001134363.3(RBM20):c.1659G>A (p.Ser553=)
|
rs375626512
|
0.00046
|
|
NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala)
|
rs149974794
|
0.00046
|
|
NM_001197104.2(KMT2A):c.1810A>G (p.Met604Val)
|
rs150328852
|
0.00046
|
|
NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys)
|
rs186624523
|
0.00046
|
|
NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr)
|
rs72648947
|
0.00046
|
|
NM_001267550.2(TTN):c.33G>A (p.Pro11=)
|
rs138331646
|
0.00046
|
|
NM_001267550.2(TTN):c.37408G>T (p.Val12470Leu)
|
rs398124448
|
0.00046
|
|
NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg)
|
rs371943746
|
0.00046
|
|
NM_001267550.2(TTN):c.65276-8T>C
|
rs377484398
|
0.00046
|
|
NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala)
|
rs140842479
|
0.00046
|
|
NM_001267550.2(TTN):c.88028G>A (p.Arg29343His)
|
rs73036368
|
0.00046
|
|
NM_001288705.3(CSF1R):c.316C>T (p.Arg106Trp)
|
rs143025739
|
0.00046
|
|
NM_001318510.2(ACSL4):c.1325A>G (p.Tyr442Cys)
|
rs200451158
|
0.00046
|
|
NM_001365951.3(KIF1B):c.2551T>A (p.Leu851Met)
|
rs139572764
|
0.00046
|
|
NM_001367805.3(KIF23):c.1265G>A (p.Arg422Gln)
|
rs150307169
|
0.00046
|
|
NM_001371333.1(DIABLO):c.315+6T>A
|
rs370571609
|
0.00046
|
|
NM_001372044.2(SHANK3):c.4259C>T (p.Pro1420Leu)
|
rs73174429
|
0.00046
|
|
NM_001374259.2(IL12RB2):c.988A>T (p.Met330Leu)
|
rs150877640
|
0.00046
|
|
NM_001374385.1(ATP8B1):c.1433A>G (p.Asp478Gly)
|
rs200214627
|
0.00046
|
|
NM_001384474.1(LOXHD1):c.4523G>A (p.Arg1508Lys)
|
rs199518750
|
0.00046
|
|
NM_001384732.1(CPLANE1):c.8678C>T (p.Pro2893Leu)
|
rs147426388
|
0.00046
|
|
NM_001457.4(FLNB):c.4495G>A (p.Asp1499Asn)
|
rs150445941
|
0.00046
|
|
NM_001737.5(C9):c.421C>A (p.Pro141Thr)
|
rs141153047
|
0.00046
|
|
NM_001849.4(COL6A2):c.1706G>A (p.Arg569Gln)
|
rs147158850
|
0.00046
|
|
NM_001852.4(COL9A2):c.927T>G (p.Asp309Glu)
|
rs200290031
|
0.00046
|
|
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=)
|
rs147102633
|
0.00046
|
|
NM_002025.4(AFF2):c.3088A>C (p.Ile1030Leu)
|
rs149653283
|
0.00046
|
|
NM_002335.4(LRP5):c.2324T>C (p.Ile775Thr)
|
rs144983823
|
0.00046
|
|
NM_002335.4(LRP5):c.2829G>A (p.Pro943=)
|
rs201018263
|
0.00046
|
|
NM_002435.3(MPI):c.670+11T>C
|
rs144118442
|
0.00046
|
|
NM_002454.3(MTRR):c.540G>A (p.Val180=)
|
rs149037732
|
0.00046
|
|
NM_002473.6(MYH9):c.5026A>G (p.Lys1676Glu)
|
rs138158369
|
0.00046
|
|
NM_002474.3(MYH11):c.3816G>A (p.Glu1272=)
|
rs112990531
|
0.00046
|
|
NM_002582.4(PARN):c.1843A>G (p.Lys615Glu)
|
rs368440052
|
0.00046
|
|
NM_003242.6(TGFBR2):c.649G>C (p.Ala217Pro)
|
rs149141477
|
0.00046
|
|
NM_003322.6(TULP1):c.823-4A>G
|
rs200264819
|
0.00046
|
|
NM_003477.3(PDHX):c.734C>T (p.Ser245Leu)
|
rs141096005
|
0.00046
|
|
NM_003489.4(NRIP1):c.717A>T (p.Arg239Ser)
|
rs202001270
|
0.00046
|
|
NM_004006.3(DMD):c.2457A>C (p.Leu819=)
|
rs72468680
|
0.00046
|
|
NM_004006.3(DMD):c.3162+4A>G
|
rs189048508
|
0.00046
|
|
NM_004006.3(DMD):c.4072-245C>T
|
rs140237546
|
0.00046
|
|
NM_004304.5(ALK):c.4255G>A (p.Glu1419Lys)
|
rs56181542
|
0.00046
|
|
NM_004369.4(COL6A3):c.3680-5C>T
|
rs370146203
|
0.00046
|
|
NM_004369.4(COL6A3):c.5139G>A (p.Gly1713=)
|
rs114338020
|
0.00046
|
|
NM_004560.4(ROR2):c.234G>A (p.Thr78=)
|
rs141093530
|
0.00046
|
|
NM_005045.4(RELN):c.7114G>A (p.Val2372Met)
|
rs114344654
|
0.00046
|
|
NM_005220.3(DLX3):c.853G>A (p.Ala285Thr)
|
rs148713638
|
0.00046
|
|
NM_005529.7(HSPG2):c.8605G>C (p.Ala2869Pro)
|
rs139838884
|
0.00046
|
|
NM_006019.4(TCIRG1):c.476G>A (p.Gly159Glu)
|
rs199632510
|
0.00046
|
|
NM_006031.6(PCNT):c.9594G>A (p.Thr3198=)
|
rs143776463
|
0.00046
|
|
NM_006086.4(TUBB3):c.1287G>A (p.Thr429=)
|
rs142238093
|
0.00046
|
|
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln)
|
rs151273553
|
0.00046
|
|
NM_006363.6(SEC23B):c.1665+6T>C
|
rs371786580
|
0.00046
|
|
NM_006420.3(ARFGEF2):c.4462A>T (p.Thr1488Ser)
|
rs151221957
|
0.00046
|
|
NM_006486.3(FBLN1):c.286G>A (p.Gly96Ser)
|
rs199802935
|
0.00046
|
|
NM_006517.5(SLC16A2):c.1596C>T (p.Ser532=)
|
rs199904356
|
0.00046
|
|
NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val)
|
rs201869920
|
0.00046
|
|
NM_006767.4(LZTR1):c.1531G>A (p.Val511Met)
|
rs200062851
|
0.00046
|
|
NM_007254.4(PNKP):c.672C>T (p.Arg224=)
|
rs151180981
|
0.00046
|
|
NM_014339.7(IL17RA):c.427C>T (p.Arg143Cys)
|
rs145378071
|
0.00046
|
|
NM_014476.6(PDLIM3):c.715G>A (p.Asp239Asn)
|
rs142143310
|
0.00046
|
|
NM_015192.4(PLCB1):c.627A>G (p.Pro209=)
|
rs151006778
|
0.00046
|
|
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=)
|
rs568801926
|
0.00046
|
|
NM_015295.3(SMCHD1):c.789C>T (p.His263=)
|
rs374899324
|
0.00046
|
|
NM_015662.3(IFT172):c.2158C>T (p.Arg720Cys)
|
rs147744868
|
0.00046
|
|
NM_015662.3(IFT172):c.2770T>G (p.Ser924Ala)
|
rs142409945
|
0.00046
|
|
NM_016239.4(MYO15A):c.10094A>G (p.Gln3365Arg)
|
rs200843771
|
0.00046
|
|
NM_016239.4(MYO15A):c.3133A>C (p.Thr1045Pro)
|
rs201826872
|
0.00046
|
|
NM_017763.6(RNF43):c.575C>T (p.Pro192Leu)
|
rs139557480
|
0.00046
|
|
NM_018026.4(PACS1):c.104A>C (p.Gln35Pro)
|
rs369233658
|
0.00046
|
|
NM_018052.5(VAC14):c.423+6C>T
|
rs375640224
|
0.00046
|
|
NM_018249.6(CDK5RAP2):c.4838G>A (p.Ser1613Asn)
|
rs202075321
|
0.00046
|
|
NM_018417.6(ADCY10):c.4558G>A (p.Val1520Ile)
|
rs144839993
|
0.00046
|
|
NM_018474.6(KIZ):c.1660G>T (p.Ala554Ser)
|
rs532984240
|
0.00046
|
|
NM_018685.5(ANLN):c.2462C>T (p.Thr821Met)
|
rs150551001
|
0.00046
|
|
NM_020320.5(RARS2):c.78A>C (p.Thr26=)
|
rs138360045
|
0.00046
|
|
NM_020533.3(MCOLN1):c.413C>T (p.Ala138Val)
|
rs142259322
|
0.00046
|
|
NM_020750.3(XPO5):c.3447A>T (p.Gln1149His)
|
rs200787086
|
0.00046
|
|
NM_021008.4(DEAF1):c.1640C>G (p.Thr547Ser)
|
rs111947578
|
0.00046
|
|
NM_021098.3(CACNA1H):c.1853C>T (p.Pro618Leu)
|
rs60734921
|
0.00046
|
|
NM_022436.3(ABCG5):c.99G>A (p.Pro33=)
|
rs149907931
|
0.00046
|
|
NM_022773.4(LMF1):c.1405G>A (p.Ala469Thr)
|
rs181731943
|
0.00046
|
|
NM_024596.5(MCPH1):c.783T>A (p.Asp261Glu)
|
rs199700538
|
0.00046
|
|
NM_024642.5(GALNT12):c.889C>T (p.Arg297Trp)
|
rs149726976
|
0.00046
|
|
NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp)
|
rs200346497
|
0.00046
|
|
NM_030787.4(CFHR5):c.232T>C (p.Ser78Pro)
|
rs146025130
|
0.00046
|
|
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser)
|
rs146230559
|
0.00046
|
|
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met)
|
rs199988872
|
0.00046
|
|
NM_032119.4(ADGRV1):c.853C>G (p.Arg285Gly)
|
rs200197273
|
0.00046
|
|
NM_033305.3(VPS13A):c.7920A>G (p.Gln2640=)
|
rs200387635
|
0.00046
|
|
NM_057175.5(NAA15):c.850T>G (p.Trp284Gly)
|
rs202230897
|
0.00046
|
|
NM_130468.4(CHST14):c.635T>C (p.Val212Ala)
|
rs144629123
|
0.00046
|
|
NM_138477.4(CDAN1):c.2868C>T (p.Ala956=)
|
rs150438471
|
0.00046
|
|
NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu)
|
rs145425340
|
0.00046
|
|
NM_152296.5(ATP1A3):c.994-3C>G
|
rs377256877
|
0.00046
|
|
NM_153676.4(USH1C):c.2265C>T (p.Leu755=)
|
rs151251262
|
0.00046
|
|
NM_153704.6(TMEM67):c.369C>T (p.Ala123=)
|
rs115640152
|
0.00046
|
|
NM_172107.4(KCNQ2):c.1827C>T (p.Ala609=)
|
rs369438374
|
0.00046
|
|
NM_173660.5(DOK7):c.296C>T (p.Ala99Val)
|
rs138010842
|
0.00046
|
|
NM_173689.7(CRB2):c.38C>T (p.Ala13Val)
|
rs199695001
|
0.00046
|
|
NM_177965.4(CFAP418):c.269A>G (p.Asn90Ser)
|
rs199731969
|
0.00046
|
|
NM_182961.4(SYNE1):c.21002A>G (p.Lys7001Arg)
|
rs145075161
|
0.00046
|
|
NM_183357.3(ADCY5):c.818T>C (p.Val273Ala)
|
rs141412542
|
0.00046
|
|
NM_194248.3(OTOF):c.5829C>T (p.Ser1943=)
|
rs151005752
|
0.00046
|
|
NM_201384.3(PLEC):c.5874G>A (p.Thr1958=)
|
rs185082202
|
0.00046
|
|
NM_201384.3(PLEC):c.6778G>A (p.Asp2260Asn)
|
rs371763907
|
0.00046
|
|
NM_201384.3(PLEC):c.8046C>T (p.Leu2682=)
|
rs375590561
|
0.00046
|
|
NM_203447.4(DOCK8):c.3058A>G (p.Ile1020Val)
|
rs151094543
|
0.00046
|
|
NM_206933.4(USH2A):c.10609C>T (p.Leu3537Phe)
|
rs138656755
|
0.00046
|
|
NM_207122.2(EXT2):c.1087G>A (p.Val363Met)
|
rs138943091
|
0.00046
|
|
NM_207361.6(FREM2):c.2754C>T (p.Val918=)
|
rs140353326
|
0.00046
|
|
NM_207361.6(FREM2):c.4960A>C (p.Ser1654Arg)
|
rs114595447
|
0.00046
|
|
NM_213655.5(WNK1):c.2995C>G (p.Leu999Val)
|
rs72649856
|
0.00046
|
|
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=)
|
rs200996053
|
0.00045
|
|
NM_000057.4(BLM):c.645C>T (p.Ser215=)
|
rs56218710
|
0.00045
|
|
NM_000059.4(BRCA2):c.7976+12G>A
|
rs81002827
|
0.00045
|
|
NM_000077.5(CDKN2A):c.273G>A (p.Leu91=)
|
rs4987127
|
0.00045
|
|
NM_000098.3(CPT2):c.321A>G (p.Lys107=)
|
rs147846614
|
0.00045
|
|
NM_000108.5(DLD):c.100A>G (p.Thr34Ala)
|
rs138002793
|
0.00045
|
|
NM_000124.4(ERCC6):c.4144G>A (p.Gly1382Arg)
|
rs4253228
|
0.00045
|
|
NM_000154.2(GALK1):c.66G>A (p.Glu22=)
|
rs367558510
|
0.00045
|
|
NM_000179.3(MSH6):c.491A>C (p.His164Pro)
|
rs146469162
|
0.00045
|
|
NM_000214.3(JAG1):c.1755C>T (p.Asn585=)
|
rs142808131
|
0.00045
|
|
NM_000222.3(KIT):c.200C>G (p.Thr67Ser)
|
rs144933028
|
0.00045
|
|
NM_000260.4(MYO7A):c.614T>C (p.Ile205Thr)
|
rs200241993
|
0.00045
|
|
NM_000275.3(OCA2):c.1762C>T (p.Arg588Trp)
|
rs150711896
|
0.00045
|
|
NM_000335.5(SCN5A):c.2437-5C>A
|
rs72549411
|
0.00045
|
|
NM_000452.3(SLC10A2):c.785C>T (p.Thr262Met)
|
rs72547505
|
0.00045
|
|
NM_000492.4(CFTR):c.509G>A (p.Arg170His)
|
rs1800079
|
0.00045
|
|
NM_000514.4(GDNF):c.*5G>A
|
rs145996577
|
0.00045
|
|
NM_000518.5(HBB):c.316-125A>G
|
rs63751175
|
0.00045
|
|
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=)
|
rs139435774
|
0.00045
|
|
NM_000535.7(PMS2):c.1199A>C (p.Gln400Pro)
|
rs148069478
|
0.00045
|
|
NM_000553.6(WRN):c.3738G>A (p.Leu1246=)
|
rs147117969
|
0.00045
|
|
NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=)
|
rs184684058
|
0.00045
|
|
NM_000744.7(CHRNA4):c.1006C>T (p.Arg336Cys)
|
rs56175056
|
0.00045
|
|
NM_001009944.3(PKD1):c.10654G>T (p.Ala3552Ser)
|
rs141670808
|
0.00045
|
|
NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met)
|
rs35110529
|
0.00045
|
|
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met)
|
rs186906598
|
0.00045
|
|
NM_001042432.2(CLN3):c.831G>A (p.Val277=)
|
rs1142183
|
0.00045
|
|
NM_001048174.2(MUTYH):c.914-9C>T
|
rs3219488
|
0.00045
|
|
NM_001061.7(TBXAS1):c.623C>G (p.Pro208Arg)
|
rs137946697
|
0.00045
|
|
NM_001077365.2(POMT1):c.1365+15C>T
|
rs58896330
|
0.00045
|
|
NM_001098671.2(RASGRP2):c.371+7G>T
|
rs181901181
|
0.00045
|
|
NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=)
|
rs142769942
|
0.00045
|
|
NM_001161352.2(KCNMA1):c.2965C>T (p.Arg989Cys)
|
rs143599540
|
0.00045
|
|
NM_001193315.2(VIPAS39):c.447+9C>T
|
rs145373891
|
0.00045
|
|
NM_001206999.2(CIT):c.143G>A (p.Arg48Gln)
|
rs142607751
|
0.00045
|
|
NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=)
|
rs200149062
|
0.00045
|
|
NM_001258392.3(CLPB):c.989C>T (p.Ala330Val)
|
rs144942416
|
0.00045
|
|
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly)
|
rs200166942
|
0.00045
|
|
NM_001267550.2(TTN):c.10049C>T (p.Pro3350Leu)
|
rs139504522
|
0.00045
|
|
NM_001267550.2(TTN):c.104592G>A (p.Pro34864=)
|
rs144094650
|
0.00045
|
|
NM_001267550.2(TTN):c.10922T>C (p.Ile3641Thr)
|
rs141027782
|
0.00045
|
|
NM_001267550.2(TTN):c.25619C>T (p.Ser8540Phe)
|
rs201523784
|
0.00045
|
|
NM_001267550.2(TTN):c.41488G>A (p.Val13830Ile)
|
rs149059189
|
0.00045
|
|
NM_001267550.2(TTN):c.51065C>T (p.Ala17022Val)
|
rs372419267
|
0.00045
|
|
NM_001267550.2(TTN):c.80722A>C (p.Arg26908=)
|
rs573877174
|
0.00045
|
|
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val)
|
rs201348580
|
0.00045
|
|
NM_001267550.2(TTN):c.91311A>G (p.Glu30437=)
|
rs374094732
|
0.00045
|
|
NM_001270508.2(TNFAIP3):c.2364G>A (p.Met788Ile)
|
rs143002189
|
0.00045
|
|
NM_001292063.2(OTOG):c.94+75G>T
|
rs550807341
|
0.00045
|
|
NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys)
|
rs192843629
|
0.00045
|
|
NM_001355436.2(SPTB):c.5942G>A (p.Arg1981His)
|
rs146513976
|
0.00045
|
|
NM_001365999.1(SZT2):c.8944C>T (p.His2982Tyr)
|
rs754779853
|
0.00045
|
|
NM_001367624.2(ZNF469):c.3321G>A (p.Arg1107=)
|
rs763826959
|
0.00045
|
|
NM_001367624.2(ZNF469):c.8695G>A (p.Gly2899Ser)
|
rs202129382
|
0.00045
|
|
NM_001374385.1(ATP8B1):c.2595C>T (p.Cys865=)
|
rs201885528
|
0.00045
|
|
NM_001375808.2(LPIN2):c.2568C>T (p.Leu856=)
|
rs149862905
|
0.00045
|
|
NM_001378454.1(ALMS1):c.11255A>G (p.Asn3752Ser)
|
rs199917289
|
0.00045
|
|
NM_001382430.1(AKT1):c.138C>A (p.Asp46Glu)
|
rs146875699
|
0.00045
|
|
NM_001384140.1(PCDH15):c.330C>T (p.Asn110=)
|
rs146796009
|
0.00045
|
|
NM_001458.5(FLNC):c.3966C>T (p.Gly1322=)
|
rs200237564
|
0.00045
|
|
NM_001983.4(ERCC1):c.191C>T (p.Ala64Val)
|
rs142631483
|
0.00045
|
|
NM_002294.3(LAMP2):c.385G>A (p.Ala129Thr)
|
rs149276836
|
0.00045
|
|
NM_002485.5(NBN):c.-26G>A
|
rs201392451
|
0.00045
|
|
NM_002617.4(PEX10):c.418G>C (p.Gly140Arg)
|
rs76530653
|
0.00045
|
|
NM_002691.4(POLD1):c.2052G>C (p.Gln684His)
|
rs144143245
|
0.00045
|
|
NM_002691.4(POLD1):c.653G>A (p.Arg218His)
|
rs150010804
|
0.00045
|
|
NM_003072.5(SMARCA4):c.2850C>T (p.Thr950=)
|
rs141259126
|
0.00045
|
|
NM_003289.4(TPM2):c.726C>T (p.Ala242=)
|
rs76414035
|
0.00045
|
|
NM_003467.3(CXCR4):c.157A>C (p.Ile53Leu)
|
rs56400844
|
0.00045
|
|
NM_003849.4(SUCLG1):c.384C>T (p.Ala128=)
|
rs139731592
|
0.00045
|
|
NM_003849.4(SUCLG1):c.721G>A (p.Glu241Lys)
|
rs145106503
|
0.00045
|
|
NM_004004.6(GJB2):c.*1C>T
|
rs111033327
|
0.00045
|
|
NM_004006.3(DMD):c.7243C>T (p.Arg2415Cys)
|
rs139395045
|
0.00045
|
|
NM_004035.7(ACOX1):c.1344G>A (p.Val448=)
|
rs753969664
|
0.00045
|
|
NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser)
|
rs140170914
|
0.00045
|
|
NM_004370.6(COL12A1):c.5585T>C (p.Val1862Ala)
|
rs200029869
|
0.00045
|
|
NM_004525.3(LRP2):c.8901C>G (p.Pro2967=)
|
rs145179638
|
0.00045
|
|
NM_004727.3(SLC24A1):c.2183C>T (p.Ala728Val)
|
rs201943537
|
0.00045
|
|
NM_005477.3(HCN4):c.2800C>T (p.Arg934Cys)
|
rs199638465
|
0.00045
|
|
NM_005529.7(HSPG2):c.13033G>A (p.Gly4345Arg)
|
rs148788926
|
0.00045
|
|
NM_005546.4(ITK):c.1741C>T (p.Arg581Trp)
|
rs34482255
|
0.00045
|
|
NM_005726.6(TSFM):c.539G>C (p.Gly180Ala)
|
rs138534976
|
0.00045
|
|
NM_006005.3(WFS1):c.2627A>C (p.Lys876Thr)
|
rs144900514
|
0.00045
|
|
NM_006031.6(PCNT):c.9800G>A (p.Arg3267His)
|
rs200268000
|
0.00045
|
|
NM_006506.5(RASA2):c.378A>C (p.Glu126Asp)
|
rs144759014
|
0.00045
|
|
NM_006891.4(CRYGD):c.264C>G (p.His88Gln)
|
rs75156162
|
0.00045
|
|
NM_006892.4(DNMT3B):c.2142G>A (p.Leu714=)
|
rs143847495
|
0.00045
|
|
NM_012062.5(DNM1L):c.1640C>T (p.Pro547Leu)
|
rs146565893
|
0.00045
|
|
NM_012463.4(ATP6V0A2):c.2384C>T (p.Ala795Val)
|
rs139509075
|
0.00045
|
|
NM_013275.6(ANKRD11):c.6112A>G (p.Lys2038Glu)
|
rs200724087
|
0.00045
|
|
NM_014317.5(PDSS1):c.686C>G (p.Ser229Cys)
|
rs142182789
|
0.00045
|
|
NM_014336.5(AIPL1):c.627G>A (p.Arg209=)
|
rs142319505
|
0.00045
|
|
NM_014908.4(DOLK):c.525T>G (p.Val175=)
|
rs200278288
|
0.00045
|
|
NM_015340.4(LARS2):c.2203G>A (p.Val735Ile)
|
rs141011840
|
0.00045
|
|
NM_015346.4(ZFYVE26):c.5260G>A (p.Ala1754Thr)
|
rs146968463
|
0.00045
|
|
NM_015404.4(WHRN):c.995G>A (p.Arg332Gln)
|
rs139193948
|
0.00045
|
|
NM_015506.3(MMACHC):c.277-4C>G
|
rs199889403
|
0.00045
|
|
NM_016204.4(GDF2):c.871G>A (p.Gly291Ser)
|
rs201711410
|
0.00045
|
|
NM_016239.4(MYO15A):c.7665C>T (p.Ser2555=)
|
rs183834387
|
0.00045
|
|
NM_016239.4(MYO15A):c.858C>G (p.Pro286=)
|
rs200424851
|
0.00045
|
|
NM_016938.5(EFEMP2):c.99C>T (p.Pro33=)
|
rs140946753
|
0.00045
|
|
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=)
|
rs568700183
|
0.00045
|
|
NM_018979.4(WNK1):c.3578G>A (p.Ser1193Asn)
|
rs72650720
|
0.00045
|
|
NM_019109.5(ALG1):c.827G>A (p.Arg276Gln)
|
rs201975029
|
0.00045
|
|
NM_020297.4(ABCC9):c.75T>C (p.Phe25=)
|
rs201972673
|
0.00045
|
|
NM_020376.4(PNPLA2):c.236G>A (p.Arg79Gln)
|
rs139576982
|
0.00045
|
|
NM_020779.4(WDR35):c.1051C>G (p.Pro351Ala)
|
rs140753861
|
0.00045
|
|
NM_021101.5(CLDN1):c.41C>T (p.Ala14Val)
|
rs141961866
|
0.00045
|
|
NM_021830.5(TWNK):c.384C>T (p.Ser128=)
|
rs148234280
|
0.00045
|
|
NM_022114.4(PRDM16):c.2576C>T (p.Ser859Leu)
|
rs370046582
|
0.00045
|
|
NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys)
|
rs111033522
|
0.00045
|
|
NM_022369.4(STRA6):c.388G>A (p.Ala130Thr)
|
rs141477248
|
0.00045
|
|
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys)
|
rs142410803
|
0.00045
|
|
NM_025137.4(SPG11):c.1605C>T (p.Ala535=)
|
rs117683234
|
0.00045
|
|
NM_025137.4(SPG11):c.6632G>A (p.Arg2211His)
|
rs144165094
|
0.00045
|
|
NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln)
|
rs201747452
|
0.00045
|
|
NM_032119.4(ADGRV1):c.8842G>A (p.Ala2948Thr)
|
rs369777874
|
0.00045
|
|
NM_053025.4(MYLK):c.999G>A (p.Pro333=)
|
rs13319347
|
0.00045
|
|
NM_080605.4(B3GALT6):c.485G>A (p.Arg162Gln)
|
rs376811907
|
0.00045
|
|
NM_080680.3(COL11A2):c.1382G>A (p.Gly461Asp)
|
rs141140798
|
0.00045
|
|
NM_133379.5(TTN):c.12979A>G (p.Ile4327Val)
|
rs144226338
|
0.00045
|
|
NM_133379.5(TTN):c.16328T>C (p.Val5443Ala)
|
rs145183384
|
0.00045
|
|
NM_138395.4(MARS2):c.43G>A (p.Ala15Thr)
|
rs145171191
|
0.00045
|
|
NM_145207.3(AFG2A):c.637G>A (p.Asp213Asn)
|
rs139066705
|
0.00045
|
|
NM_177924.5(ASAH1):c.457+7G>A
|
rs189892461
|
0.00045
|
|
NM_194248.3(OTOF):c.3706C>G (p.Arg1236Gly)
|
rs199904558
|
0.00045
|
|
NM_199242.3(UNC13D):c.2368-5C>T
|
rs180768962
|
0.00045
|
|
NM_201253.3(CRB1):c.3695A>G (p.His1232Arg)
|
rs142090517
|
0.00045
|
|
NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu)
|
rs144182966
|
0.00045
|
|
NM_206933.4(USH2A):c.12883A>G (p.Ile4295Val)
|
rs137868043
|
0.00045
|
|
NM_207346.3(TSEN54):c.1114G>A (p.Val372Met)
|
rs200434678
|
0.00045
|
|
NM_000039.3(APOA1):c.284T>A (p.Phe95Tyr)
|
rs138407155
|
0.00044
|
|
NM_000051.4(ATM):c.3342G>A (p.Lys1114=)
|
rs138393322
|
0.00044
|
|
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg)
|
rs28897728
|
0.00044
|
|
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=)
|
rs147774793
|
0.00044
|
|
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=)
|
rs146522699
|
0.00044
|
|
NM_000213.5(ITGB4):c.5219-3C>T
|
rs200010813
|
0.00044
|
|
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser)
|
rs202063628
|
0.00044
|
|
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=)
|
rs147797612
|
0.00044
|
|
NM_000275.3(OCA2):c.1336A>G (p.Met446Val)
|
rs140566426
|
0.00044
|
|
NM_000282.4(PCCA):c.1002C>T (p.Thr334=)
|
rs150106872
|
0.00044
|
|
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu)
|
rs61748434
|
0.00044
|
|
NM_000338.3(SLC12A1):c.1089A>G (p.Ala363=)
|
rs142646329
|
0.00044
|
|
NM_000375.3(UROS):c.22G>A (p.Asp8Asn)
|
rs558929395
|
0.00044
|
|
NM_000392.5(ABCC2):c.4075A>C (p.Ile1359Leu)
|
rs142700351
|
0.00044
|
|
NM_000497.4(CYP11B1):c.1042G>A (p.Ala348Thr)
|
rs6407
|
0.00044
|
|
NM_000552.5(VWF):c.4146G>T (p.Leu1382=)
|
rs140464171
|
0.00044
|
|
NM_000823.4(GHRHR):c.489C>T (p.Tyr163=)
|
rs147098353
|
0.00044
|
|
NM_000875.5(IGF1R):c.568C>T (p.Pro190Ser)
|
rs144739747
|
0.00044
|
|
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser)
|
rs200696965
|
0.00044
|
|
NM_001044.5(SLC6A3):c.1155C>T (p.Asp385=)
|
rs145114326
|
0.00044
|
|
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu)
|
rs79777494
|
0.00044
|
|
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp)
|
rs75321043
|
0.00044
|
|
NM_001061.7(TBXAS1):c.1520A>T (p.Glu507Val)
|
rs200663004
|
0.00044
|
|
NM_001083116.3(PRF1):c.368G>A (p.Arg123His)
|
rs139336186
|
0.00044
|
|
NM_001084.5(PLOD3):c.1466C>T (p.Pro489Leu)
|
rs145508748
|
0.00044
|
|
NM_001114134.2(EPB42):c.581G>A (p.Arg194His)
|
rs146348439
|
0.00044
|
|
NM_001122630.2(CDKN1C):c.423G>A (p.Pro141=)
|
rs878853626
|
0.00044
|
|
NM_001126049.2(KLLN):c.-792C>T
|
rs587779982
|
0.00044
|
|
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=)
|
rs143762717
|
0.00044
|
|
NM_001161352.2(KCNMA1):c.89A>G (p.His30Arg)
|
rs200474297
|
0.00044
|
|
NM_001164508.2(NEB):c.23418G>T (p.Gln7806His)
|
rs765789028
|
0.00044
|
|
NM_001166114.2(PNPLA6):c.3914-8G>A
|
rs374861157
|
0.00044
|
|
NM_001184900.3(CARD8):c.973C>A (p.Pro325Thr)
|
rs139160093
|
0.00044
|
|
NM_001199397.3(NEK1):c.3193A>G (p.Thr1065Ala)
|
rs371084271
|
0.00044
|
|
NM_001252024.2(TRPM1):c.551G>A (p.Arg184Gln)
|
rs188852505
|
0.00044
|
|
NM_001267550.2(TTN):c.66172C>T (p.Arg22058Cys)
|
rs199643269
|
0.00044
|
|
NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys)
|
rs192152102
|
0.00044
|
|
NM_001291303.3(FAT4):c.2917G>A (p.Val973Ile)
|
rs199497561
|
0.00044
|
|
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met)
|
rs201818223
|
0.00044
|
|
NM_001351132.2(PEX5):c.552-7G>A
|
rs189631769
|
0.00044
|
|
NM_001369.3(DNAH5):c.1250C>G (p.Thr417Ser)
|
rs149202369
|
0.00044
|
|
NM_001378183.1(PIEZO2):c.152C>T (p.Thr51Met)
|
rs371432372
|
0.00044
|
|
NM_001378183.1(PIEZO2):c.5080G>A (p.Asp1694Asn)
|
rs114649884
|
0.00044
|
|
NM_001378454.1(ALMS1):c.4885C>T (p.Arg1629Trp)
|
rs201874722
|
0.00044
|
|
NM_001378778.1(MPDZ):c.2537C>G (p.Ser846Cys)
|
rs200553028
|
0.00044
|
|
NM_001382567.1(STIM1):c.2021G>A (p.Arg674His)
|
rs140080199
|
0.00044
|
|
NM_001849.4(COL6A2):c.426G>A (p.Thr142=)
|
rs149480738
|
0.00044
|
|
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His)
|
rs140250347
|
0.00044
|
|
NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His)
|
rs201692151
|
0.00044
|
|
NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro)
|
rs200901330
|
0.00044
|
|
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile)
|
rs142334798
|
0.00044
|
|
NM_002700.3(POU4F3):c.230A>G (p.Asp77Gly)
|
rs138310635
|
0.00044
|
|
NM_002863.5(PYGL):c.147C>T (p.Thr49=)
|
rs139338050
|
0.00044
|
|
NM_003098.3(SNTA1):c.619C>T (p.Arg207Trp)
|
rs139537086
|
0.00044
|
|
NM_003560.4(PLA2G6):c.966C>T (p.His322=)
|
rs144033740
|
0.00044
|
|
NM_003737.4(DCHS1):c.3764C>T (p.Thr1255Met)
|
rs147152025
|
0.00044
|
|
NM_003896.4(ST3GAL5):c.389C>T (p.Ala130Val)
|
rs140019292
|
0.00044
|
|
NM_004004.6(GJB2):c.-22-6T>C
|
rs141962118
|
0.00044
|
|
NM_004006.3(DMD):c.5586+9G>A
|
rs200025478
|
0.00044
|
|
NM_004366.6(CLCN2):c.1856-3C>T
|
rs371193424
|
0.00044
|
|
NM_004525.3(LRP2):c.2320+9G>A
|
rs368933798
|
0.00044
|
|
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu)
|
rs114849139
|
0.00044
|
|
NM_004667.6(HERC2):c.4651A>C (p.Ile1551Leu)
|
rs200864382
|
0.00044
|
|
NM_004817.4(TJP2):c.2720T>C (p.Met907Thr)
|
rs149659876
|
0.00044
|
|
NM_004817.4(TJP2):c.2880+19C>T
|
rs200384355
|
0.00044
|
|
NM_005357.4(LIPE):c.998G>A (p.Arg333Gln)
|
rs112497256
|
0.00044
|
|
NM_006059.4(LAMC3):c.2238G>A (p.Ala746=)
|
rs141918703
|
0.00044
|
|
NM_006073.4(TRDN):c.1895G>A (p.Arg632Lys)
|
rs181571822
|
0.00044
|
|
NM_006662.3(SRCAP):c.7853A>G (p.Asn2618Ser)
|
rs144476508
|
0.00044
|
|
NM_006892.4(DNMT3B):c.2529C>T (p.Phe843=)
|
rs147402935
|
0.00044
|
|
NM_012186.3(FOXE3):c.527C>T (p.Ala176Val)
|
rs201955081
|
0.00044
|
|
NM_014244.5(ADAMTS2):c.2892C>T (p.Pro964=)
|
rs546361762
|
0.00044
|
|
NM_015346.4(ZFYVE26):c.2799C>T (p.Leu933=)
|
rs146793500
|
0.00044
|
|
NM_015419.4(MXRA5):c.1783G>A (p.Val595Met)
|
rs144346765
|
0.00044
|
|
NM_015650.4(TRAF3IP1):c.115A>G (p.Ile39Val)
|
rs370097041
|
0.00044
|
|
NM_016630.7(SPG21):c.846G>A (p.Ala282=)
|
rs146986015
|
0.00044
|
|
NM_017534.6(MYH2):c.1898-3C>T
|
rs370752980
|
0.00044
|
|
NM_017617.5(NOTCH1):c.1553C>T (p.Thr518Met)
|
rs377535397
|
0.00044
|
|
NM_020433.5(JPH2):c.1380G>A (p.Ala460=)
|
rs531877510
|
0.00044
|
|
NM_020451.3(SELENON):c.1500+7G>A
|
rs200724231
|
0.00044
|
|
NM_020708.5(SLC12A5):c.887G>A (p.Arg296His)
|
rs114371269
|
0.00044
|
|
NM_020987.5(ANK3):c.11678G>C (p.Ser3893Thr)
|
rs12260663
|
0.00044
|
|
NM_022124.6(CDH23):c.3230C>T (p.Pro1077Leu)
|
rs202101019
|
0.00044
|
|
NM_022124.6(CDH23):c.5038G>A (p.Val1680Ile)
|
rs201364852
|
0.00044
|
|
NM_024426.6(WT1):c.1063T>C (p.Cys355Arg)
|
rs142059681
|
0.00044
|
|
NM_025009.5(CEP135):c.700-10A>G
|
rs369136062
|
0.00044
|
|
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys)
|
rs200955930
|
0.00044
|
|
NM_032228.6(FAR1):c.1077C>G (p.Ala359=)
|
rs146816221
|
0.00044
|
|
NM_032340.4(UQCC2):c.138+6C>T
|
rs376993977
|
0.00044
|
|
NM_032382.5(COG8):c.597C>T (p.Asn199=)
|
rs113642086
|
0.00044
|
|
NM_032520.5(GNPTG):c.702T>C (p.Pro234=)
|
rs532275192
|
0.00044
|
|
NM_032601.4(MCEE):c.66C>T (p.Pro22=)
|
rs151148238
|
0.00044
|
|
NM_033100.4(CDHR1):c.1320+4G>C
|
rs370677921
|
0.00044
|
|
NM_033118.4(MYLK2):c.834T>A (p.Asn278Lys)
|
rs41293104
|
0.00044
|
|
NM_033305.3(VPS13A):c.2667+11C>T
|
rs375898960
|
0.00044
|
|
NM_080680.3(COL11A2):c.480T>G (p.Ser160=)
|
rs142969513
|
0.00044
|
|
NM_080680.3(COL11A2):c.706C>T (p.Pro236Ser)
|
rs35116188
|
0.00044
|
|
NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala)
|
rs184770596
|
0.00044
|
|
NM_133497.4(KCNV2):c.80G>A (p.Arg27His)
|
rs145731729
|
0.00044
|
|
NM_138413.4(HOGA1):c.237C>T (p.Gly79=)
|
rs148094180
|
0.00044
|
|
NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu)
|
rs141360909
|
0.00044
|
|
NM_153614.4(DNAJB13):c.493-3T>C
|
rs144296663
|
0.00044
|
|
NM_153717.3(EVC):c.1653G>A (p.Pro551=)
|
rs151293705
|
0.00044
|
|
NM_170682.4(P2RX2):c.947C>T (p.Thr316Met)
|
rs150293706
|
0.00044
|
|
NM_177972.3(TUB):c.149C>T (p.Ala50Val)
|
rs145623562
|
0.00044
|
|
NM_194248.3(OTOF):c.5038C>T (p.Arg1680Cys)
|
rs147070644
|
0.00044
|
|
NM_198999.3(SLC26A5):c.2177C>T (p.Ala726Val)
|
rs150726851
|
0.00044
|
|
NM_201384.3(PLEC):c.5862C>T (p.Asn1954=)
|
rs550994317
|
0.00044
|
|
NM_201384.3(PLEC):c.6099G>A (p.Ala2033=)
|
rs375465011
|
0.00044
|
|
NM_206937.2(LIG4):c.13C>A (p.Gln5Lys)
|
rs143590752
|
0.00044
|
|
NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu)
|
rs141035971
|
0.00044
|
|
NM_207346.3(TSEN54):c.537G>A (p.Pro179=)
|
rs113016401
|
0.00044
|
|
NM_000030.3(AGXT):c.35A>G (p.Lys12Arg)
|
rs142969817
|
0.00043
|
|
NM_000039.3(APOA1):c.178T>G (p.Ser60Ala)
|
rs199759119
|
0.00043
|
|
NM_000057.4(BLM):c.3798T>G (p.Val1266=)
|
rs138831180
|
0.00043
|
|
NM_000081.4(LYST):c.692A>G (p.Gln231Arg)
|
rs147433918
|
0.00043
|
|
NM_000135.4(FANCA):c.3408+9C>G
|
rs377702890
|
0.00043
|
|
NM_000140.5(FECH):c.362A>G (p.Glu121Gly)
|
rs141813907
|
0.00043
|
|
NM_000168.6(GLI3):c.3829C>G (p.Gln1277Glu)
|
rs146582871
|
0.00043
|
|
NM_000169.3(GLA):c.376A>G (p.Ser126Gly)
|
rs149391489
|
0.00043
|
|
NM_000226.4(KRT9):c.1216T>C (p.Cys406Arg)
|
rs77688767
|
0.00043
|
|
NM_000251.3(MSH2):c.1680T>C (p.Asn560=)
|
rs200056411
|
0.00043
|
|
NM_000254.3(MTR):c.1080A>G (p.Leu360=)
|
rs141861479
|
0.00043
|
|
NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn)
|
rs187165412
|
0.00043
|
|
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp)
|
rs143464326
|
0.00043
|
|
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=)
|
rs370346797
|
0.00043
|
|
NM_000359.3(TGM1):c.1762G>A (p.Ala588Thr)
|
rs146728175
|
0.00043
|
|
NM_000439.5(PCSK1):c.65T>C (p.Leu22Pro)
|
rs201377789
|
0.00043
|
|
NM_000492.4(CFTR):c.958T>G (p.Leu320Val)
|
rs144476686
|
0.00043
|
|
NM_000540.3(RYR1):c.12203A>G (p.Lys4068Arg)
|
rs114009747
|
0.00043
|
|
NM_000540.3(RYR1):c.3111C>T (p.Ser1037=)
|
rs145434723
|
0.00043
|
|
NM_000540.3(RYR1):c.6645C>T (p.Leu2215=)
|
rs146617004
|
0.00043
|
|
NM_000548.5(TSC2):c.3610+6G>A
|
rs45517301
|
0.00043
|
|
NM_000709.4(BCKDHA):c.288C>T (p.His96=)
|
rs148571328
|
0.00043
|
|
NM_001039.4(SCNN1G):c.1476A>G (p.Val492=)
|
rs146420892
|
0.00043
|
|
NM_001040142.2(SCN2A):c.4257C>T (p.Ala1419=)
|
rs141153302
|
0.00043
|
|
NM_001048166.1(STIL):c.3156C>T (p.Ser1052=)
|
rs113337758
|
0.00043
|
|
NM_001105206.3(LAMA4):c.254A>G (p.Asn85Ser)
|
rs145301300
|
0.00043
|
|
NM_001122659.3(EDNRB):c.-26G>A
|
rs2070591
|
0.00043
|
|
NM_001123385.2(BCOR):c.4724T>C (p.Met1575Thr)
|
rs142595337
|
0.00043
|
|
NM_001127453.2(GSDME):c.1122C>T (p.Pro374=)
|
rs138980048
|
0.00043
|
|
NM_001127511.3(APC):c.-166C>T
|
rs904001781
|
0.00043
|
|
NM_001128840.3(CACNA1D):c.6417C>T (p.Asp2139=)
|
rs375811590
|
0.00043
|
|
NM_001130987.2(DYSF):c.4355C>T (p.Ser1452Leu)
|
rs139411595
|
0.00043
|
|
NM_001130987.2(DYSF):c.978A>T (p.Thr326=)
|
rs112007817
|
0.00043
|
|
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser)
|
rs142450703
|
0.00043
|
|
NM_001235.5(SERPINH1):c.97G>C (p.Ala33Pro)
|
rs150061926
|
0.00043
|
|
NM_001267550.2(TTN):c.14911T>G (p.Cys4971Gly)
|
rs537312655
|
0.00043
|
|
NM_001267550.2(TTN):c.34571G>A (p.Arg11524Gln)
|
rs201622536
|
0.00043
|
|
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn)
|
rs201257644
|
0.00043
|
|
NM_001270508.2(TNFAIP3):c.2231G>A (p.Gly744Asp)
|
rs150355046
|
0.00043
|
|
NM_001277115.2(DNAH11):c.569A>T (p.Tyr190Phe)
|
rs201793112
|
0.00043
|
|
NM_001283009.2(RTEL1):c.1482-7C>T
|
rs189271525
|
0.00043
|
|
NM_001352514.2(HLCS):c.1347G>C (p.Arg449Ser)
|
rs142621386
|
0.00043
|
|
NM_001352514.2(HLCS):c.1390G>T (p.Val464Leu)
|
rs144705277
|
0.00043
|
|
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp)
|
rs148579886
|
0.00043
|
|
NM_001363711.2(DUOX2):c.3103G>A (p.Val1035Met)
|
rs138774384
|
0.00043
|
|
NM_001365536.1(SCN9A):c.3801T>C (p.Asp1267=)
|
rs202047865
|
0.00043
|
|
NM_001367624.2(ZNF469):c.4909C>T (p.Arg1637Trp)
|
rs575820215
|
0.00043
|
|
NM_001457.4(FLNB):c.1196A>G (p.Lys399Arg)
|
rs145673747
|
0.00043
|
|
NM_001457.4(FLNB):c.4058C>G (p.Thr1353Ser)
|
rs142718547
|
0.00043
|
|
NM_001701.4(BAAT):c.-6A>T
|
rs181929679
|
0.00043
|
|
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser)
|
rs12877501
|
0.00043
|
|
NM_001852.4(COL9A2):c.376C>A (p.Pro126Thr)
|
rs146903539
|
0.00043
|
|
NM_001875.5(CPS1):c.154G>A (p.Asp52Asn)
|
rs141481633
|
0.00043
|
|
NM_002025.4(AFF2):c.1097A>G (p.His366Arg)
|
rs199574795
|
0.00043
|
|
NM_002204.4(ITGA3):c.3046-4G>A
|
rs368305833
|
0.00043
|
|
NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly)
|
rs145947380
|
0.00043
|
|
NM_002291.3(LAMB1):c.3124G>A (p.Gly1042Ser)
|
rs149204722
|
0.00043
|
|
NM_002303.6(LEPR):c.1246C>T (p.His416Tyr)
|
rs144710810
|
0.00043
|
|
NM_002471.4(MYH6):c.4905C>T (p.Asn1635=)
|
rs143048583
|
0.00043
|
|
NM_002528.7(NTHL1):c.712G>A (p.Ala238Thr)
|
rs147559648
|
0.00043
|
|
NM_002857.4(PEX19):c.255G>A (p.Ala85=)
|
rs150928521
|
0.00043
|
|
NM_003640.5(ELP1):c.948G>A (p.Pro316=)
|
rs148917889
|
0.00043
|
|
NM_004364.5(CEBPA):c.667G>A (p.Gly223Ser)
|
rs535980233
|
0.00043
|
|
NM_004369.4(COL6A3):c.786C>T (p.Leu262=)
|
rs111481402
|
0.00043
|
|
NM_004415.4(DSP):c.2683T>C (p.Tyr895His)
|
rs375891215
|
0.00043
|
|
NM_004525.3(LRP2):c.6553C>T (p.Leu2185Phe)
|
rs143884041
|
0.00043
|
|
NM_004625.4(WNT7A):c.1028C>T (p.Thr343Met)
|
rs140491601
|
0.00043
|
|
NM_004655.4(AXIN2):c.733C>T (p.Pro245Ser)
|
rs62640028
|
0.00043
|
|
NM_005097.4(LGI1):c.717A>C (p.Ile239=)
|
rs146425212
|
0.00043
|
|
NM_005120.3(MED12):c.653C>T (p.Thr218Met)
|
rs369083173
|
0.00043
|
|
NM_005219.5(DIAPH1):c.3050T>C (p.Met1017Thr)
|
rs376220834
|
0.00043
|
|
NM_005529.7(HSPG2):c.10187C>T (p.Ala3396Val)
|
rs200225298
|
0.00043
|
|
NM_005996.4(TBX3):c.1290C>T (p.Gly430=)
|
rs369999628
|
0.00043
|
|
NM_006031.6(PCNT):c.9968-3C>T
|
rs182378192
|
0.00043
|
|
NM_006506.5(RASA2):c.37T>G (p.Ser13Ala)
|
rs747843653
|
0.00043
|
|
NM_013382.7(POMT2):c.1404A>G (p.Lys468=)
|
rs150491326
|
0.00043
|
|
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys)
|
rs143433500
|
0.00043
|
|
NM_014714.4(IFT140):c.3542C>T (p.Ser1181Leu)
|
rs145814071
|
0.00043
|
|
NM_014714.4(IFT140):c.3684C>T (p.Ser1228=)
|
rs146464282
|
0.00043
|
|
NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser)
|
rs172149856
|
0.00043
|
|
NM_018136.5(ASPM):c.2263G>A (p.Ala755Thr)
|
rs150852085
|
0.00043
|
|
NM_018249.6(CDK5RAP2):c.4175A>G (p.Gln1392Arg)
|
rs138157153
|
0.00043
|
|
NM_020247.5(COQ8A):c.258A>C (p.Ala86=)
|
rs137872711
|
0.00043
|
|
NM_020975.6(RET):c.1354C>A (p.Leu452Ile)
|
rs151148041
|
0.00043
|
|
NM_020987.5(ANK3):c.11366A>G (p.Asn3789Ser)
|
rs144123544
|
0.00043
|
|
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser)
|
rs141551053
|
0.00043
|
|
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met)
|
rs201053044
|
0.00043
|
|
NM_022437.3(ABCG8):c.97G>A (p.Asp33Asn)
|
rs148456883
|
0.00043
|
|
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys)
|
rs137853825
|
0.00043
|
|
NM_024570.4(RNASEH2B):c.756A>G (p.Ser252=)
|
rs200721645
|
0.00043
|
|
NM_031475.3(ESPN):c.1895_1897del (p.Arg632_Ser633delinsPro)
|
rs925875533
|
0.00043
|
|
NM_032520.5(GNPTG):c.741+6G>A
|
rs371060844
|
0.00043
|
|
NM_033337.3(CAV3):c.417C>T (p.Val139=)
|
rs147250678
|
0.00043
|
|
NM_052813.5(CARD9):c.801C>T (p.Ser267=)
|
rs143884319
|
0.00043
|
|
NM_144670.6(A2ML1):c.3967A>C (p.Asn1323His)
|
rs200176373
|
0.00043
|
|
NM_144991.3(TSPEAR):c.791-14G>C
|
rs199699551
|
0.00043
|
|
NM_153766.3(KCNJ1):c.262A>G (p.Lys88Glu)
|
rs185212943
|
0.00043
|
|
NM_173660.5(DOK7):c.1029C>T (p.Gly343=)
|
rs375877997
|
0.00043
|
|
NM_176787.5(PIGN):c.364G>C (p.Glu122Gln)
|
rs200756305
|
0.00043
|
|
NM_177438.3(DICER1):c.4206+11_4206+13del
|
rs752585711
|
0.00043
|
|
NM_177438.3(DICER1):c.438+11T>C
|
rs376038413
|
0.00043
|
|
NM_177972.3(TUB):c.358G>A (p.Gly120Ser)
|
rs146650842
|
0.00043
|
|
NM_183357.3(ADCY5):c.910G>A (p.Ala304Thr)
|
rs138488088
|
0.00043
|
|
NM_201384.3(PLEC):c.12615C>T (p.Ile4205=)
|
rs202116866
|
0.00043
|
|
NM_201384.3(PLEC):c.13071C>T (p.Cys4357=)
|
rs202153947
|
0.00043
|
|
NM_201384.3(PLEC):c.1545C>T (p.Pro515=)
|
rs199968254
|
0.00043
|
|
NM_201384.3(PLEC):c.7062G>A (p.Ala2354=)
|
rs375587611
|
0.00043
|
|
NM_201384.3(PLEC):c.8697C>T (p.Ser2899=)
|
rs200383203
|
0.00043
|
|
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys)
|
rs146264950
|
0.00043
|
|
NM_000135.4(FANCA):c.437C>G (p.Ser146Cys)
|
rs141367100
|
0.00042
|
|
NM_000138.5(FBN1):c.2148A>G (p.Gly716=)
|
rs141039922
|
0.00042
|
|
NM_000186.4(CFH):c.2077G>A (p.Asp693Asn)
|
rs148403790
|
0.00042
|
|
NM_000195.5(HPS1):c.1928G>A (p.Gly643Glu)
|
rs148225281
|
0.00042
|
|
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg)
|
rs61756468
|
0.00042
|
|
NM_000260.4(MYO7A):c.186G>A (p.Thr62=)
|
rs368267301
|
0.00042
|
|
NM_000334.4(SCN4A):c.403A>C (p.Met135Leu)
|
rs148028364
|
0.00042
|
|
NM_000360.4(TH):c.363G>A (p.Pro121=)
|
rs370429316
|
0.00042
|
|
NM_000426.4(LAMA2):c.4176+9C>T
|
rs117116822
|
0.00042
|
|
NM_000487.6(ARSA):c.1487C>T (p.Thr496Ile)
|
rs201085386
|
0.00042
|
|
NM_000540.3(RYR1):c.8671A>C (p.Lys2891Gln)
|
rs146793133
|
0.00042
|
|
NM_000540.3(RYR1):c.9385C>T (p.Leu3129Phe)
|
rs143445685
|
0.00042
|
|
NM_000726.5(CACNB4):c.64-238T>G
|
rs369342902
|
0.00042
|
|
NM_000751.3(CHRND):c.727C>T (p.Arg243Cys)
|
rs201733876
|
0.00042
|
|
NM_000815.5(GABRD):c.775G>A (p.Val259Ile)
|
rs148908731
|
0.00042
|
|
NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser)
|
rs141069645
|
0.00042
|
|
NM_001035.3(RYR2):c.463+14G>A
|
rs776302587
|
0.00042
|
|
NM_001103.4(ACTN2):c.893G>A (p.Arg298His)
|
rs142482143
|
0.00042
|
|
NM_001114134.2(EPB42):c.2032A>G (p.Asn678Asp)
|
rs201674874
|
0.00042
|
|
NM_001122769.3(LCA5):c.1642C>T (p.Pro548Ser)
|
rs185347145
|
0.00042
|
|
NM_001164508.2(NEB):c.2107-8C>T
|
rs369441230
|
0.00042
|
|
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile)
|
rs201614099
|
0.00042
|
|
NM_001174089.2(SLC4A11):c.1807G>A (p.Ala603Thr)
|
rs138262189
|
0.00042
|
|
NM_001182.5(ALDH7A1):c.615C>T (p.Asn205=)
|
rs369380330
|
0.00042
|
|
NM_001193313.2(SUGCT):c.478A>C (p.Ile160Leu)
|
rs138102615
|
0.00042
|
|
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys)
|
rs144076460
|
0.00042
|
|
NM_001201543.2(FAM161A):c.1929A>G (p.Ser643=)
|
rs369633003
|
0.00042
|
|
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr)
|
rs201394117
|
0.00042
|
|
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr)
|
rs189951108
|
0.00042
|
|
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=)
|
rs72648971
|
0.00042
|
|
NM_001267550.2(TTN):c.39044-9T>A
|
rs184888200
|
0.00042
|
|
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys)
|
rs202094100
|
0.00042
|
|
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val)
|
rs188185141
|
0.00042
|
|
NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln)
|
rs376820301
|
0.00042
|
|
NM_001277115.2(DNAH11):c.8521A>G (p.Ser2841Gly)
|
rs199789835
|
0.00042
|
|
NM_001317778.2(SFTPC):c.523C>G (p.Leu175Val)
|
rs201685063
|
0.00042
|
|
NM_001365276.2(TNXB):c.8012C>T (p.Ala2671Val)
|
rs201037895
|
0.00042
|
|
NM_001369.3(DNAH5):c.1114A>G (p.Thr372Ala)
|
rs140227610
|
0.00042
|
|
NM_001370658.1(BTD):c.68A>G (p.His23Arg)
|
rs146011150
|
0.00042
|
|
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met)
|
rs149300055
|
0.00042
|
|
NM_001377.3(DYNC2H1):c.1966G>A (p.Gly656Arg)
|
rs369040584
|
0.00042
|
|
NM_001377299.1(NDUFS2):c.1354+5G>A
|
rs190184430
|
0.00042
|
|
NM_001378120.1(MBD5):c.1382G>A (p.Arg461His)
|
rs139964770
|
0.00042
|
|
NM_001378183.1(PIEZO2):c.8535A>G (p.Lys2845=)
|
rs149395405
|
0.00042
|
|
NM_001378454.1(ALMS1):c.4222G>A (p.Val1408Ile)
|
rs200529564
|
0.00042
|
|
NM_001378615.1(CC2D2A):c.*1T>A
|
rs199945435
|
0.00042
|
|
NM_001457.4(FLNB):c.7510G>A (p.Ala2504Thr)
|
rs148364272
|
0.00042
|
|
NM_002334.4(LRP4):c.3944C>T (p.Ser1315Leu)
|
rs150681693
|
0.00042
|
|
NM_002335.4(LRP5):c.1585-9G>A
|
rs202067798
|
0.00042
|
|
NM_002529.4(NTRK1):c.1803C>G (p.Leu601=)
|
rs146129485
|
0.00042
|
|
NM_002860.4(ALDH18A1):c.1314C>T (p.Ile438=)
|
rs150526956
|
0.00042
|
|
NM_003482.4(KMT2D):c.14643+12G>A
|
rs186670730
|
0.00042
|
|
NM_004006.3(DMD):c.2824A>G (p.Met942Val)
|
rs371648742
|
0.00042
|
|
NM_004064.5(CDKN1B):c.518A>G (p.Asn173Ser)
|
rs141509450
|
0.00042
|
|
NM_004092.4(ECHS1):c.489G>A (p.Pro163=)
|
rs140410716
|
0.00042
|
|
NM_004370.6(COL12A1):c.3202A>G (p.Ile1068Val)
|
rs201852681
|
0.00042
|
|
NM_004415.4(DSP):c.3123C>T (p.Leu1041=)
|
rs149929637
|
0.00042
|
|
NM_004646.4(NPHS1):c.1620G>C (p.Ala540=)
|
rs375861433
|
0.00042
|
|
NM_004782.4(SNAP29):c.623A>T (p.Glu208Val)
|
rs137925620
|
0.00042
|
|
NM_005219.5(DIAPH1):c.2158C>T (p.Leu720Phe)
|
rs200606811
|
0.00042
|
|
NM_005379.4(MYO1A):c.658C>T (p.Arg220Trp)
|
rs144009842
|
0.00042
|
|
NM_005535.3(IL12RB1):c.1737G>A (p.Pro579=)
|
rs371461366
|
0.00042
|
|
NM_005562.3(LAMC2):c.599C>A (p.Ala200Glu)
|
rs138266625
|
0.00042
|
|
NM_005609.4(PYGM):c.1692C>T (p.Phe564=)
|
rs116812032
|
0.00042
|
|
NM_005732.4(RAD50):c.260G>A (p.Arg87His)
|
rs374561375
|
0.00042
|
|
NM_006005.3(WFS1):c.1706C>T (p.Ala569Val)
|
rs144492050
|
0.00042
|
|
NM_006440.5(TXNRD2):c.656G>C (p.Gly219Ala)
|
rs199510610
|
0.00042
|
|
NM_006922.4(SCN3A):c.5469T>A (p.Pro1823=)
|
rs368608408
|
0.00042
|
|
NM_007294.4(BRCA1):c.-20+11C>T
|
rs273898672
|
0.00042
|
|
NM_007347.5(AP4E1):c.258T>C (p.Tyr86=)
|
rs143624283
|
0.00042
|
|
NM_012213.3(MLYCD):c.1420A>G (p.Ile474Val)
|
rs375935118
|
0.00042
|
|
NM_012310.5(KIF4A):c.2976+10T>A
|
rs376405554
|
0.00042
|
|
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp)
|
rs139145143
|
0.00042
|
|
NM_014140.4(SMARCAL1):c.1727T>C (p.Ile576Thr)
|
rs138819354
|
0.00042
|
|
NM_014915.3(ANKRD26):c.4916G>A (p.Arg1639Gln)
|
rs184369322
|
0.00042
|
|
NM_015450.3(POT1):c.1127A>G (p.Gln376Arg)
|
rs143635917
|
0.00042
|
|
NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr)
|
rs201907325
|
0.00042
|
|
NM_017777.4(MKS1):c.118C>T (p.His40Tyr)
|
rs199832333
|
0.00042
|
|
NM_020366.4(RPGRIP1):c.1078-9C>A
|
rs371312060
|
0.00042
|
|
NM_020533.3(MCOLN1):c.305G>A (p.Arg102Gln)
|
rs139377969
|
0.00042
|
|
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr)
|
rs121909633
|
0.00042
|
|
NM_024312.5(GNPTAB):c.2625G>A (p.Val875=)
|
rs141529327
|
0.00042
|
|
NM_033004.4(NLRP1):c.2693G>A (p.Arg898Gln)
|
rs149831544
|
0.00042
|
|
NM_053025.4(MYLK):c.4195G>A (p.Glu1399Lys)
|
rs181663420
|
0.00042
|
|
NM_130837.3(OPA1):c.2610C>T (p.Thr870=)
|
rs139934030
|
0.00042
|
|
NM_133379.5(TTN):c.14806A>T (p.Thr4936Ser)
|
rs72648909
|
0.00042
|
|
NM_144670.6(A2ML1):c.911T>C (p.Ile304Thr)
|
rs184575465
|
0.00042
|
|
NM_144672.4(OTOA):c.1173G>A (p.Ser391=)
|
rs143326637
|
0.00042
|
|
NM_144991.3(TSPEAR):c.418G>A (p.Ala140Thr)
|
rs148967240
|
0.00042
|
|
NM_152564.5(VPS13B):c.505C>A (p.Leu169Ile)
|
rs376498106
|
0.00042
|
|
NM_153676.4(USH1C):c.1430G>A (p.Arg477Gln)
|
rs146333270
|
0.00042
|
|
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu)
|
rs142486910
|
0.00042
|
|
NM_175614.5(NDUFA11):c.311G>T (p.Arg104Leu)
|
rs199842745
|
0.00042
|
|
NM_182760.4(SUMF1):c.519A>G (p.Ala173=)
|
rs146050361
|
0.00042
|
|
NM_182914.3(SYNE2):c.1154A>G (p.Asn385Ser)
|
rs201176149
|
0.00042
|
|
NM_198129.4(LAMA3):c.8069A>G (p.Gln2690Arg)
|
rs147208526
|
0.00042
|
|
NM_201384.3(PLEC):c.13111G>A (p.Ala4371Thr)
|
rs200361523
|
0.00042
|
|
NM_201384.3(PLEC):c.4233G>A (p.Ala1411=)
|
rs2855760
|
0.00042
|
|
NR_003051.4(RMRP):n.141A>G
|
rs578091934
|
0.00042
|
|
NM_000018.4(ACADVL):c.1077+15C>T
|
rs202237278
|
0.00041
|
|
NM_000037.4(ANK1):c.4156T>C (p.Tyr1386His)
|
rs201439151
|
0.00041
|
|
NM_000053.4(ATP7B):c.1687G>A (p.Asp563Asn)
|
rs199875471
|
0.00041
|
|
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr)
|
rs113950465
|
0.00041
|
|
NM_000124.4(ERCC6):c.1145A>G (p.Glu382Gly)
|
rs56089364
|
0.00041
|
|
NM_000137.4(FAH):c.243G>A (p.Ala81=)
|
rs36122289
|
0.00041
|
|
NM_000214.3(JAG1):c.814G>A (p.Val272Ile)
|
rs148990028
|
0.00041
|
|
NM_000232.5(SGCB):c.943G>A (p.Gly315Arg)
|
rs150395645
|
0.00041
|
|
NM_000245.4(MET):c.103A>T (p.Met35Leu)
|
rs375353223
|
0.00041
|
|
NM_000249.4(MLH1):c.702G>A (p.Glu234=)
|
rs35908749
|
0.00041
|
|
NM_000263.4(NAGLU):c.1119G>T (p.Val373=)
|
rs371656965
|
0.00041
|
|
NM_000283.4(PDE6B):c.905G>A (p.Gly302Asp)
|
rs146646008
|
0.00041
|
|
NM_000293.3(PHKB):c.305+11G>T
|
rs368293023
|
0.00041
|
|
NM_000295.5(SERPINA1):c.-7A>G
|
rs559054925
|
0.00041
|
|
NM_000335.5(SCN5A):c.5491C>G (p.Gln1831Glu)
|
rs199473320
|
0.00041
|
|
NM_000335.5(SCN5A):c.694G>A (p.Val232Ile)
|
rs45471994
|
0.00041
|
|
NM_000337.6(SGCD):c.543T>G (p.Pro181=)
|
rs200451694
|
0.00041
|
|
NM_000350.3(ABCA4):c.2877C>T (p.Thr959=)
|
rs61754033
|
0.00041
|
|
NM_000368.5(TSC1):c.1163T>C (p.Leu388Pro)
|
rs377598226
|
0.00041
|
|
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser)
|
rs118203670
|
0.00041
|
|
NM_000391.4(TPP1):c.101G>A (p.Gly34Asp)
|
rs138448968
|
0.00041
|
|
NM_000392.5(ABCC2):c.150C>T (p.His50=)
|
rs200595851
|
0.00041
|
|
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser)
|
rs147420365
|
0.00041
|
|
NM_000396.4(CTSK):c.684C>T (p.Pro228=)
|
rs142097792
|
0.00041
|
|
NM_000492.3(CFTR):c.-448A>G
|
rs943663200
|
0.00041
|
|
NM_000492.4(CFTR):c.3469-17T>C
|
rs199630678
|
0.00041
|
|
NM_000518.4(HBB):c.-51T>C
|
rs386134236
|
0.00041
|
|
NM_000535.7(PMS2):c.936G>A (p.Met312Ile)
|
rs139194813
|
0.00041
|
|
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys)
|
rs199601548
|
0.00041
|
|
NM_001031679.3(MSRB3):c.530C>T (p.Pro177Leu)
|
rs144038296
|
0.00041
|
|
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=)
|
rs373606009
|
0.00041
|
|
NM_001042517.2(DIAPH3):c.701T>C (p.Ile234Thr)
|
rs200839105
|
0.00041
|
|
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met)
|
rs144079536
|
0.00041
|
|
NM_001061.7(TBXAS1):c.335C>T (p.Ala112Val)
|
rs139976441
|
0.00041
|
|
NM_001081.4(CUBN):c.6089G>A (p.Arg2030Gln)
|
rs143400113
|
0.00041
|
|
NM_001081.4(CUBN):c.9061G>A (p.Glu3021Lys)
|
rs41289299
|
0.00041
|
|
NM_001083961.2(WDR62):c.4159C>A (p.Leu1387Ile)
|
rs147652186
|
0.00041
|
|
NM_001098816.3(TENM4):c.4558A>G (p.Asn1520Asp)
|
rs199624205
|
0.00041
|
|
NM_001127222.2(CACNA1A):c.978+9T>C
|
rs111366222
|
0.00041
|
|
NM_001128228.3(TPRN):c.740A>G (p.Gln247Arg)
|
rs986819935
|
0.00041
|
|
NM_001128840.3(CACNA1D):c.1378G>A (p.Gly460Ser)
|
rs35874056
|
0.00041
|
|
NM_001130438.3(SPTAN1):c.7233C>T (p.Ser2411=)
|
rs138985089
|
0.00041
|
|
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln)
|
rs35297901
|
0.00041
|
|
NM_001161352.2(KCNMA1):c.2547C>T (p.Asp849=)
|
rs147369374
|
0.00041
|
|
NM_001164277.2(SLC37A4):c.1240C>T (p.Leu414=)
|
rs200703321
|
0.00041
|
|
NM_001242896.3(DEPDC5):c.3092C>A (p.Pro1031His)
|
rs376744360
|
0.00041
|
|
NM_001267550.2(TTN):c.20743G>T (p.Ala6915Ser)
|
rs201728165
|
0.00041
|
|
NM_001267550.2(TTN):c.52022G>A (p.Arg17341Gln)
|
rs370390570
|
0.00041
|
|
NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys)
|
rs200144345
|
0.00041
|
|
NM_001267550.2(TTN):c.72181A>G (p.Met24061Val)
|
rs201482015
|
0.00041
|
|
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg)
|
rs146970027
|
0.00041
|
|
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=)
|
rs72648212
|
0.00041
|
|
NM_001267550.2(TTN):c.88459G>A (p.Val29487Met)
|
rs200899806
|
0.00041
|
|
NM_001267550.2(TTN):c.92241T>C (p.Gly30747=)
|
rs373311745
|
0.00041
|
|
NM_001267550.2(TTN):c.93367G>C (p.Val31123Leu)
|
rs202096200
|
0.00041
|
|
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys)
|
rs72648278
|
0.00041
|
|
NM_001282225.2(ADA2):c.1467G>C (p.Glu489Asp)
|
rs61738625
|
0.00041
|
|
NM_001291303.3(FAT4):c.12647G>A (p.Arg4216His)
|
rs148170326
|
0.00041
|
|
NM_001355436.2(SPTB):c.1303G>C (p.Glu435Gln)
|
rs149521594
|
0.00041
|
|
NM_001358530.2(MOCS1):c.394C>T (p.Arg132Trp)
|
rs377167949
|
0.00041
|
|
NM_001360.3(DHCR7):c.400G>T (p.Val134Leu)
|
rs201466849
|
0.00041
|
|
NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=)
|
rs199550149
|
0.00041
|
|
NM_001371279.1(REEP1):c.844G>A (p.Glu282Lys)
|
rs189652973
|
0.00041
|
|
NM_001371333.1(DIABLO):c.19T>A (p.Trp7Arg)
|
rs139511903
|
0.00041
|
|
NM_001374353.1(GLI2):c.3672G>A (p.Met1224Ile)
|
rs138191075
|
0.00041
|
|
NM_001377229.1(DISP1):c.1774G>A (p.Glu592Lys)
|
rs140364622
|
0.00041
|
|
NM_001378454.1(ALMS1):c.12438G>T (p.Arg4146=)
|
rs35902379
|
0.00041
|
|
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val)
|
rs202111717
|
0.00041
|
|
NM_001384474.1(LOXHD1):c.5237T>C (p.Leu1746Pro)
|
rs372241056
|
0.00041
|
|
NM_001384474.1(LOXHD1):c.722A>G (p.Asn241Ser)
|
rs191697915
|
0.00041
|
|
NM_001429.4(EP300):c.739A>G (p.Met247Val)
|
rs147583157
|
0.00041
|
|
NM_001851.6(COL9A1):c.2159G>A (p.Arg720Gln)
|
rs192467838
|
0.00041
|
|
NM_001999.4(FBN2):c.1435G>A (p.Gly479Arg)
|
rs147346327
|
0.00041
|
|
NM_002029.4(FPR1):c.368G>A (p.Arg123His)
|
rs149931707
|
0.00041
|
|
NM_002335.4(LRP5):c.2182A>T (p.Met728Leu)
|
rs149241739
|
0.00041
|
|
NM_002471.4(MYH6):c.210T>C (p.Thr70=)
|
rs147397431
|
0.00041
|
|
NM_002471.4(MYH6):c.643-5C>T
|
rs199859986
|
0.00041
|
|
NM_002473.6(MYH9):c.4878C>T (p.Ile1626=)
|
rs143947828
|
0.00041
|
|
NM_002519.3(NPAT):c.2548A>G (p.Ile850Val)
|
rs140098074
|
0.00041
|
|
NM_002691.4(POLD1):c.3068-14C>T
|
rs3218758
|
0.00041
|
|
NM_002863.5(PYGL):c.1920G>A (p.Lys640=)
|
rs140296036
|
0.00041
|
|
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn)
|
rs145309168
|
0.00041
|
|
NM_003098.3(SNTA1):c.784A>C (p.Thr262Pro)
|
rs200316080
|
0.00041
|
|
NM_003331.5(TYK2):c.193+14G>A
|
rs199931972
|
0.00041
|
|
NM_003611.3(OFD1):c.919G>A (p.Val307Ile)
|
rs139444990
|
0.00041
|
|
NM_003701.4(TNFSF11):c.591C>A (p.Ser197=)
|
rs151215329
|
0.00041
|
|
NM_003721.4(RFXANK):c.187+13C>T
|
rs201778172
|
0.00041
|
|
NM_004366.6(CLCN2):c.1969A>C (p.Thr657Pro)
|
rs149827415
|
0.00041
|
|
NM_004369.4(COL6A3):c.3419C>T (p.Thr1140Met)
|
rs201131900
|
0.00041
|
|
NM_004369.4(COL6A3):c.4103C>T (p.Thr1368Met)
|
rs116505603
|
0.00041
|
|
NM_004415.4(DSP):c.2723G>A (p.Arg908His)
|
rs142494121
|
0.00041
|
|
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln)
|
rs142803672
|
0.00041
|
|
NM_004525.3(LRP2):c.12421G>A (p.Val4141Ile)
|
rs150382715
|
0.00041
|
|
NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala)
|
rs114615449
|
0.00041
|
|
NM_004656.4(BAP1):c.905C>T (p.Pro302Leu)
|
rs149158790
|
0.00041
|
|
NM_004817.4(TJP2):c.918C>T (p.Ile306=)
|
rs374523970
|
0.00041
|
|
NM_004963.4(GUCY2C):c.2067T>G (p.Asn689Lys)
|
rs138497004
|
0.00041
|
|
NM_005045.4(RELN):c.5822T>C (p.Val1941Ala)
|
rs149837553
|
0.00041
|
|
NM_005159.4(ACTC1):c.*1781C>T
|
rs560065427
|
0.00041
|
|
NM_005428.4(VAV1):c.2161A>T (p.Met721Leu)
|
rs149330066
|
0.00041
|
|
NM_005506.4(SCARB2):c.851A>C (p.Tyr284Ser)
|
rs149997095
|
0.00041
|
|
NM_005546.4(ITK):c.1455C>T (p.Ala485=)
|
rs201568204
|
0.00041
|
|
NM_005677.4(COLQ):c.1074+4C>T
|
rs201227079
|
0.00041
|
|
NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr)
|
rs138962786
|
0.00041
|
|
NM_006073.4(TRDN):c.1193A>T (p.Glu398Val)
|
rs374355537
|
0.00041
|
|
NM_006231.4(POLE):c.1015G>A (p.Asp339Asn)
|
rs149029910
|
0.00041
|
|
NM_006231.4(POLE):c.3881G>A (p.Arg1294His)
|
rs115455318
|
0.00041
|
|
NM_006415.4(SPTLC1):c.120C>G (p.Phe40Leu)
|
rs142153571
|
0.00041
|
|
NM_006514.4(SCN10A):c.2441G>A (p.Arg814His)
|
rs139861061
|
0.00041
|
|
NM_006892.4(DNMT3B):c.1035C>T (p.Ile345=)
|
rs150148922
|
0.00041
|
|
NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys)
|
rs370053399
|
0.00041
|
|
NM_007055.4(POLR3A):c.1910-13A>G
|
rs375882550
|
0.00041
|
|
NM_007294.4(BRCA1):c.-106C>G
|
rs527449526
|
0.00041
|
|
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=)
|
rs147732875
|
0.00041
|
|
NM_012470.4(TNPO3):c.582T>C (p.Asp194=)
|
rs148885407
|
0.00041
|
|
NM_014049.5(ACAD9):c.152A>T (p.Lys51Ile)
|
rs149931573
|
0.00041
|
|
NM_014141.6(CNTNAP2):c.3927C>T (p.Ala1309=)
|
rs143856702
|
0.00041
|
|
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser)
|
rs121918363
|
0.00041
|
|
NM_014687.4(RUBCN):c.226C>T (p.Arg76Cys)
|
rs201775281
|
0.00041
|
|
NM_014704.4(CEP104):c.2621G>A (p.Arg874His)
|
rs139076247
|
0.00041
|
|
NM_014727.3(KMT2B):c.3317G>A (p.Arg1106Gln)
|
rs201094135
|
0.00041
|
|
NM_015512.5(DNAH1):c.3202G>A (p.Val1068Met)
|
rs201455697
|
0.00041
|
|
NM_015662.3(IFT172):c.3674G>A (p.Arg1225Gln)
|
rs141440865
|
0.00041
|
|
NM_016203.4(PRKAG2):c.946+3A>G
|
rs376173303
|
0.00041
|
|
NM_016247.4(IMPG2):c.1495C>A (p.Pro499Thr)
|
rs143635399
|
0.00041
|
|
NM_016938.5(EFEMP2):c.728-3C>T
|
rs377139656
|
0.00041
|
|
NM_017433.5(MYO3A):c.3880A>G (p.Ile1294Val)
|
rs56261037
|
0.00041
|
|
NM_017636.4(TRPM4):c.2254C>T (p.Gln752Ter)
|
rs769917929
|
0.00041
|
|
NM_017636.4(TRPM4):c.308A>G (p.Tyr103Cys)
|
rs144781529
|
0.00041
|
|
NM_017777.4(MKS1):c.544G>A (p.Val182Ile)
|
rs200185068
|
0.00041
|
|
NM_017882.3(CLN6):c.822G>A (p.Ala274=)
|
rs151186473
|
0.00041
|
|
NM_018136.5(ASPM):c.7551T>C (p.Tyr2517=)
|
rs149228705
|
0.00041
|
|
NM_018706.7(DHTKD1):c.2742C>T (p.Leu914=)
|
rs201680688
|
0.00041
|
|
NM_020117.11(LARS1):c.1369C>T (p.Arg457Trp)
|
rs151245897
|
0.00041
|
|
NM_020312.4(COQ9):c.26C>T (p.Ala9Val)
|
rs536567108
|
0.00041
|
|
NM_020436.5(SALL4):c.2162C>T (p.Thr721Met)
|
rs147195029
|
0.00041
|
|
NM_020442.6(VARS2):c.1691C>T (p.Ala564Val)
|
rs143408155
|
0.00041
|
|
NM_020461.4(TUBGCP6):c.161C>G (p.Thr54Ser)
|
rs139974572
|
0.00041
|
|
NM_020631.6(PLEKHG5):c.719A>G (p.Asp240Gly)
|
rs199794578
|
0.00041
|
|
NM_020937.4(FANCM):c.4084G>A (p.Asp1362Asn)
|
rs199895244
|
0.00041
|
|
NM_021625.5(TRPV4):c.1491+10C>T
|
rs201815805
|
0.00041
|
|
NM_022725.4(FANCF):c.728G>A (p.Gly243Glu)
|
rs150216454
|
0.00041
|
|
NM_023110.3(FGFR1):c.2278T>C (p.Leu760=)
|
rs201490643
|
0.00041
|
|
NM_024685.4(BBS10):c.886G>A (p.Ala296Thr)
|
rs150587582
|
0.00041
|
|
NM_024747.6(HPS6):c.2250G>A (p.Ser750=)
|
rs139161525
|
0.00041
|
|
NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp)
|
rs140757802
|
0.00041
|
|
NM_024753.5(TTC21B):c.2255A>G (p.Asn752Ser)
|
rs148222901
|
0.00041
|
|
NM_025179.4(PLXNA2):c.4327G>A (p.Ala1443Thr)
|
rs12240051
|
0.00041
|
|
NM_025243.4(SLC19A3):c.613A>G (p.Arg205Gly)
|
rs199558186
|
0.00041
|
|
NM_030665.4(RAI1):c.1941C>T (p.Ser647=)
|
rs140198185
|
0.00041
|
|
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)
|
rs45589637
|
0.00041
|
|
NM_032119.4(ADGRV1):c.14632C>T (p.Pro4878Ser)
|
rs201072069
|
0.00041
|
|
NM_032444.4(SLX4):c.4494G>A (p.Leu1498=)
|
rs146532299
|
0.00041
|
|
NM_032888.4(COL27A1):c.364C>T (p.Arg122Cys)
|
rs372265305
|
0.00041
|
|
NM_053025.4(MYLK):c.1991A>G (p.Gln664Arg)
|
rs200273207
|
0.00041
|
|
NM_080680.3(COL11A2):c.1720-4G>T
|
rs369678506
|
0.00041
|
|
NM_130837.3(OPA1):c.2421G>T (p.Leu807=)
|
rs148047706
|
0.00041
|
|
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=)
|
rs34796823
|
0.00041
|
|
NM_139027.6(ADAMTS13):c.2936G>A (p.Arg979Gln)
|
rs142779872
|
0.00041
|
|
NM_139343.3(BIN1):c.1629T>G (p.Ala543=)
|
rs143258043
|
0.00041
|
|
NM_152564.5(VPS13B):c.921G>A (p.Met307Ile)
|
rs140709787
|
0.00041
|
|
NM_152703.5(SAMD9L):c.2069G>A (p.Gly690Asp)
|
rs147903234
|
0.00041
|
|
NM_173630.4(RTTN):c.1301A>C (p.Asp434Ala)
|
rs8083708
|
0.00041
|
|
NM_175914.5(HNF4A):c.726G>A (p.Val242=)
|
rs145280017
|
0.00041
|
|
NM_178857.6(RP1L1):c.487C>G (p.Arg163Gly)
|
rs187140236
|
0.00041
|
|
NM_182914.3(SYNE2):c.2402A>G (p.Gln801Arg)
|
rs200848069
|
0.00041
|
|
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=)
|
rs144418713
|
0.00041
|
|
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala)
|
rs41291047
|
0.00041
|
|
NM_182961.4(SYNE1):c.2728A>G (p.Ser910Gly)
|
rs141214076
|
0.00041
|
|
NM_201384.3(PLEC):c.10498C>T (p.Arg3500Cys)
|
rs200541837
|
0.00041
|
|
NM_206933.4(USH2A):c.10470G>T (p.Val3490=)
|
rs201401001
|
0.00041
|
|
NM_000029.4(AGT):c.127C>T (p.Leu43Phe)
|
rs41271499
|
0.00040
|
|
NM_000036.3(AMPD1):c.216-9C>T
|
rs570832252
|
0.00040
|
|
NM_000065.5(C6):c.186A>C (p.Glu62Asp)
|
rs200359838
|
0.00040
|
|
NM_000089.4(COL1A2):c.1008C>T (p.Ala336=)
|
rs138357977
|
0.00040
|
|
NM_000141.5(FGFR2):c.2190C>T (p.Asn730=)
|
rs55637244
|
0.00040
|
|
NM_000169.3(GLA):c.352C>T (p.Arg118Cys)
|
rs148158093
|
0.00040
|
|
NM_000214.3(JAG1):c.1920C>T (p.Asn640=)
|
rs372121353
|
0.00040
|
|
NM_000249.4(MLH1):c.198C>T (p.Thr66=)
|
rs61751642
|
0.00040
|
|
NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys)
|
rs375510570
|
0.00040
|
|
NM_000298.6(PKLR):c.92C>T (p.Ala31Val)
|
rs150077703
|
0.00040
|
|
NM_000321.3(RB1):c.411A>T (p.Glu137Asp)
|
rs3092902
|
0.00040
|
|
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu)
|
rs150264233
|
0.00040
|
|
NM_000359.3(TGM1):c.2160C>T (p.Thr720=)
|
rs139387079
|
0.00040
|
|
NM_000371.4(TTR):c.328C>A (p.His110Asn)
|
rs121918074
|
0.00040
|
|
NM_000501.4(ELN):c.326G>A (p.Gly109Asp)
|
rs145519139
|
0.00040
|
|
NM_000507.4(FBP1):c.670G>A (p.Val224Ile)
|
rs140222720
|
0.00040
|
|
NM_000517.6(HBA2):c.95+39C>G
|
rs1025977498
|
0.00040
|
|
NM_000527.5(LDLR):c.2055G>A (p.Pro685=)
|
rs149126953
|
0.00040
|
|
NM_000532.5(PCCB):c.914T>G (p.Ile305Ser)
|
rs144907014
|
0.00040
|
|
NM_000787.4(DBH):c.849C>T (p.Cys283=)
|
rs78200745
|
0.00040
|
|
NM_000817.3(GAD1):c.682A>C (p.Ile228Leu)
|
rs45566933
|
0.00040
|
|
NM_000883.4(IMPDH1):c.769A>G (p.Thr257Ala)
|
rs144659635
|
0.00040
|
|
NM_001003800.2(BICD2):c.1893C>T (p.Ile631=)
|
rs141414055
|
0.00040
|
|
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=)
|
rs201206239
|
0.00040
|
|
NM_001083961.2(WDR62):c.3058G>A (p.Ala1020Thr)
|
rs144120866
|
0.00040
|
|
NM_001085487.3(MYSM1):c.1716+4del
|
rs779915103
|
0.00040
|
|
NM_001105206.3(LAMA4):c.3054G>T (p.Leu1018Phe)
|
rs183262122
|
0.00040
|
|
NM_001114753.3(ENG):c.-9G>A
|
rs368423516
|
0.00040
|
|
NM_001142800.2(EYS):c.2598C>T (p.Cys866=)
|
rs183814213
|
0.00040
|
|
NM_001182.5(ALDH7A1):c.494G>C (p.Gly165Ala)
|
rs375491094
|
0.00040
|
|
NM_001184880.2(PCDH19):c.3439G>A (p.Val1147Ile)
|
rs138771033
|
0.00040
|
|
NM_001206999.2(CIT):c.1706A>C (p.Asn569Thr)
|
rs149250142
|
0.00040
|
|
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His)
|
rs55850344
|
0.00040
|
|
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His)
|
rs201080904
|
0.00040
|
|
NM_001291303.3(FAT4):c.13460C>T (p.Ala4487Val)
|
rs141234678
|
0.00040
|
|
NM_001292063.2(OTOG):c.4021C>T (p.Arg1341Trp)
|
rs200215464
|
0.00040
|
|
NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile)
|
rs121908162
|
0.00040
|
|
NM_001368067.1(LDB3):c.771G>A (p.Thr257=)
|
rs144445130
|
0.00040
|
|
NM_001369.3(DNAH5):c.962C>T (p.Ser321Leu)
|
rs201077964
|
0.00040
|
|
NM_001369268.1(ACAN):c.185C>A (p.Thr62Asn)
|
rs200239326
|
0.00040
|
|
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp)
|
rs200897773
|
0.00040
|
|
NM_001875.5(CPS1):c.4089G>T (p.Leu1363=)
|
rs368890059
|
0.00040
|
|
NM_001909.5(CTSD):c.75G>A (p.Pro25=)
|
rs140563067
|
0.00040
|
|
NM_001940.4(ATN1):c.1461A>G (p.Gln487=)
|
rs150855426
|
0.00040
|
|
NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala)
|
rs200837433
|
0.00040
|
|
NM_002529.4(NTRK1):c.1474G>A (p.Glu492Lys)
|
rs144901788
|
0.00040
|
|
NM_002617.4(PEX10):c.816G>T (p.Leu272=)
|
rs144440263
|
0.00040
|
|
NM_003482.4(KMT2D):c.6235-6C>G
|
rs373858319
|
0.00040
|
|
NM_003482.4(KMT2D):c.7078C>G (p.Pro2360Ala)
|
rs376483324
|
0.00040
|
|
NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu)
|
rs147948449
|
0.00040
|
|
NM_003742.4(ABCB11):c.2886A>G (p.Ala962=)
|
rs201087979
|
0.00040
|
|
NM_004370.6(COL12A1):c.5221G>A (p.Glu1741Lys)
|
rs200201449
|
0.00040
|
|
NM_004380.3(CREBBP):c.6661A>C (p.Met2221Leu)
|
rs200716582
|
0.00040
|
|
NM_004463.3(FGD1):c.281A>G (p.His94Arg)
|
rs189159946
|
0.00040
|
|
NM_004937.3(CTNS):c.561+4C>T
|
rs111256750
|
0.00040
|
|
NM_004990.4(MARS1):c.986C>A (p.Pro329His)
|
rs145260922
|
0.00040
|
|
NM_005445.4(SMC3):c.2535+15T>G
|
rs3818903
|
0.00040
|
|
NM_006086.4(TUBB3):c.357G>A (p.Val119=)
|
rs34174718
|
0.00040
|
|
NM_006231.4(POLE):c.2171C>T (p.Ala724Val)
|
rs61734163
|
0.00040
|
|
NM_006363.6(SEC23B):c.519G>A (p.Val173=)
|
rs138314893
|
0.00040
|
|
NM_007194.4(CHEK2):c.319+3966G>A
|
rs137926355
|
0.00040
|
|
NM_007254.4(PNKP):c.627G>A (p.Glu209=)
|
rs532550120
|
0.00040
|
|
NM_014363.6(SACS):c.2602A>G (p.Ile868Val)
|
rs142284018
|
0.00040
|
|
NM_015102.5(NPHP4):c.3837C>T (p.Phe1279=)
|
rs375237454
|
0.00040
|
|
NM_015295.3(SMCHD1):c.1957-3C>T
|
rs201069969
|
0.00040
|
|
NM_016213.5(TRIP4):c.1165C>T (p.Pro389Ser)
|
rs144077712
|
0.00040
|
|
NM_017534.6(MYH2):c.332C>T (p.Ala111Val)
|
rs140468333
|
0.00040
|
|
NM_017780.4(CHD7):c.2751G>A (p.Thr917=)
|
rs369429961
|
0.00040
|
|
NM_018013.4(SOBP):c.2268G>A (p.Lys756=)
|
rs377096838
|
0.00040
|
|
NM_019066.5(MAGEL2):c.1423G>T (p.Ala475Ser)
|
rs760039339
|
0.00040
|
|
NM_022124.6(CDH23):c.2128A>G (p.Ile710Val)
|
rs367750869
|
0.00040
|
|
NM_022367.4(SEMA4A):c.405T>C (p.Asn135=)
|
rs56271605
|
0.00040
|
|
NM_022369.4(STRA6):c.902C>T (p.Thr301Ile)
|
rs139450204
|
0.00040
|
|
NM_022464.5(SIL1):c.933G>A (p.Gly311=)
|
rs61744666
|
0.00040
|
|
NM_032531.4(KIRREL3):c.1395G>A (p.Ser465=)
|
rs138978113
|
0.00040
|
|
NM_032634.4(PIGO):c.1277C>A (p.Ala426Asp)
|
rs147098410
|
0.00040
|
|
NM_033028.5(BBS4):c.24+8C>T
|
rs200055760
|
0.00040
|
|
NM_052813.5(CARD9):c.12C>T (p.Tyr4=)
|
rs35051231
|
0.00040
|
|
NM_053025.4(MYLK):c.3653-10_3653-8del
|
rs576620371
|
0.00040
|
|
NM_138694.4(PKHD1):c.129T>C (p.Asp43=)
|
rs201195801
|
0.00040
|
|
NM_153240.5(NPHP3):c.3717G>A (p.Leu1239=)
|
rs146759786
|
0.00040
|
|
NM_178012.5(TUBB2B):c.602G>C (p.Cys201Ser)
|
rs201922441
|
0.00040
|
|
NM_182920.2(ADAMTS9):c.2867G>A (p.Arg956His)
|
rs113699218
|
0.00040
|
|
NM_182961.4(SYNE1):c.2065C>A (p.Arg689=)
|
rs139480065
|
0.00040
|
|
NM_194248.3(OTOF):c.4548C>T (p.Tyr1516=)
|
rs139525746
|
0.00040
|
|
NM_199242.3(UNC13D):c.1228A>C (p.Ile410Leu)
|
rs117221419
|
0.00040
|
|
NM_201384.3(PLEC):c.3533G>A (p.Arg1178Gln)
|
rs782590380
|
0.00040
|
|
NM_201384.3(PLEC):c.8613C>T (p.Cys2871=)
|
rs35821434
|
0.00040
|
|
NM_206933.4(USH2A):c.2459A>G (p.Asn820Ser)
|
rs34447581
|
0.00040
|
|
NM_000017.4(ACADS):c.624+8C>T
|
rs371550264
|
0.00039
|
|
NM_000026.4(ADSL):c.270T>C (p.Ala90=)
|
rs143275316
|
0.00039
|
|
NM_000037.4(ANK1):c.2167C>A (p.His723Asn)
|
rs150899388
|
0.00039
|
|
NM_000038.6(APC):c.2847G>T (p.Met949Ile)
|
rs147394539
|
0.00039
|
|
NM_000046.5(ARSB):c.1123G>A (p.Asp375Asn)
|
rs200040980
|
0.00039
|
|
NM_000057.4(BLM):c.3813G>A (p.Leu1271=)
|
rs376082823
|
0.00039
|
|
NM_000070.3(CAPN3):c.1643G>A (p.Arg548His)
|
rs146309264
|
0.00039
|
|
NM_000108.5(DLD):c.55C>G (p.Arg19Gly)
|
rs144038427
|
0.00039
|
|
NM_000142.5(FGFR3):c.252G>A (p.Ser84=)
|
rs367973461
|
0.00039
|
|
NM_000158.4(GBE1):c.1237-15C>T
|
rs376809475
|
0.00039
|
|
NM_000168.6(GLI3):c.2245A>G (p.Ile749Val)
|
rs140048578
|
0.00039
|
|
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)
|
rs104894845
|
0.00039
|
|
NM_000190.4(HMBS):c.1075G>A (p.Asp359Asn)
|
rs144949995
|
0.00039
|
|
NM_000195.5(HPS1):c.700C>T (p.Leu234=)
|
rs150444975
|
0.00039
|
|
NM_000232.5(SGCB):c.768C>T (p.Ile256=)
|
rs149121189
|
0.00039
|
|
NM_000235.4(LIPA):c.891C>T (p.Ser297=)
|
rs145066614
|
0.00039
|
|
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe)
|
rs17224367
|
0.00039
|
|
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser)
|
rs181834806
|
0.00039
|
|
NM_000350.3(ABCA4):c.5312+11T>C
|
rs769863517
|
0.00039
|
|
NM_000384.3(APOB):c.3382C>T (p.Arg1128Cys)
|
rs72653076
|
0.00039
|
|
NM_000392.5(ABCC2):c.1007C>T (p.Thr336Met)
|
rs149854486
|
0.00039
|
|
NM_000393.5(COL5A2):c.2492G>C (p.Gly831Ala)
|
rs141210030
|
0.00039
|
|
NM_000395.3(CSF2RB):c.1152+3G>A
|
rs375322656
|
0.00039
|
|
NM_000399.5(EGR2):c.644C>T (p.Thr215Met)
|
rs139147487
|
0.00039
|
|
NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys)
|
rs192317605
|
0.00039
|
|
NM_000433.4(NCF2):c.93C>T (p.Ala31=)
|
rs143889676
|
0.00039
|
|
NM_000439.5(PCSK1):c.1096-10C>T
|
rs373951075
|
0.00039
|
|
NM_000452.3(SLC10A2):c.415G>A (p.Gly139Arg)
|
rs200749358
|
0.00039
|
|
NM_000518.5(HBB):c.316-96G>C
|
rs193922561
|
0.00039
|
|
NM_000540.3(RYR1):c.12852CACGGCGGC[3] (p.4285TAA[3])
|
rs398123469
|
0.00039
|
|
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)
|
rs104893829
|
0.00039
|
|
NM_000642.3(AGL):c.2941A>G (p.Ile981Val)
|
rs148981763
|
0.00039
|
|
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser)
|
rs144536197
|
0.00039
|
|
NM_001018113.3(FANCB):c.1658C>T (p.Thr553Met)
|
rs146157131
|
0.00039
|
|
NM_001031679.3(MSRB3):c.523G>A (p.Ala175Thr)
|
rs200201418
|
0.00039
|
|
NM_001034853.2(RPGR):c.1414+5C>T
|
rs367627674
|
0.00039
|
|
NM_001036.6(RYR3):c.8236A>G (p.Ile2746Val)
|
rs201914506
|
0.00039
|
|
NM_001039213.4(CEACAM16):c.869C>T (p.Thr290Met)
|
rs61729706
|
0.00039
|
|
NM_001080517.3(SETD5):c.3944C>T (p.Thr1315Met)
|
rs202179816
|
0.00039
|
|
NM_001105206.3(LAMA4):c.863C>G (p.Ala288Gly)
|
rs150084275
|
0.00039
|
|
NM_001126121.2(SLC25A19):c.750G>A (p.Glu250=)
|
rs147904037
|
0.00039
|
|
NM_001134407.3(GRIN2A):c.666C>T (p.Ile222=)
|
rs143594020
|
0.00039
|
|
NM_001134407.3(GRIN2A):c.741C>T (p.Gly247=)
|
rs141912603
|
0.00039
|
|
NM_001164508.2(NEB):c.8801G>A (p.Arg2934His)
|
rs200307392
|
0.00039
|
|
NM_001166114.2(PNPLA6):c.3003C>T (p.Gly1001=)
|
rs145459571
|
0.00039
|
|
NM_001232.4(CASQ2):c.928G>A (p.Asp310Asn)
|
rs141314684
|
0.00039
|
|
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe)
|
rs72648943
|
0.00039
|
|
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=)
|
rs202089818
|
0.00039
|
|
NM_001267550.2(TTN):c.32093G>A (p.Arg10698Gln)
|
rs200161147
|
0.00039
|
|
NM_001267550.2(TTN):c.53122A>G (p.Lys17708Glu)
|
rs185913848
|
0.00039
|
|
NM_001276270.2(MBD4):c.1183+17A>G
|
rs199597858
|
0.00039
|
|
NM_001277115.2(DNAH11):c.9449G>A (p.Arg3150Gln)
|
rs181785201
|
0.00039
|
|
NM_001297.5(CNGB1):c.2153G>C (p.Gly718Ala)
|
rs201909863
|
0.00039
|
|
NM_001329943.3(KIAA0586):c.4325A>G (p.Tyr1442Cys)
|
rs200127338
|
0.00039
|
|
NM_001353921.2(ARHGEF9):c.675G>A (p.Gln225=)
|
rs140777637
|
0.00039
|
|
NM_001365999.1(SZT2):c.6077C>A (p.Ala2026Glu)
|
rs140427193
|
0.00039
|
|
NM_001367624.2(ZNF469):c.2168G>C (p.Ser723Thr)
|
rs777747160
|
0.00039
|
|
NM_001367624.2(ZNF469):c.3278A>G (p.Asp1093Gly)
|
rs533979613
|
0.00039
|
|
NM_001369.3(DNAH5):c.4525G>A (p.Val1509Met)
|
rs140345677
|
0.00039
|
|
NM_001369.3(DNAH5):c.6409C>A (p.Leu2137Ile)
|
rs181884470
|
0.00039
|
|
NM_001374736.1(DST):c.2125A>G (p.Met709Val)
|
rs142650835
|
0.00039
|
|
NM_001377.3(DYNC2H1):c.2244C>T (p.His748=)
|
rs373707570
|
0.00039
|
|
NM_001378414.1(HDAC4):c.3220G>A (p.Ala1074Thr)
|
rs115552422
|
0.00039
|
|
NM_001378454.1(ALMS1):c.2065A>G (p.Thr689Ala)
|
rs201804994
|
0.00039
|
|
NM_001378778.1(MPDZ):c.5725-3C>T
|
rs371321660
|
0.00039
|
|
NM_001384140.1(PCDH15):c.2290C>T (p.Arg764Cys)
|
rs192813057
|
0.00039
|
|
NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys)
|
rs201816080
|
0.00039
|
|
NM_001558.4(IL10RA):c.1260G>A (p.Ser420=)
|
rs199604463
|
0.00039
|
|
NM_001620.3(AHNAK):c.7562C>G (p.Pro2521Arg)
|
rs143391519
|
0.00039
|
|
NM_001851.6(COL9A1):c.1130G>A (p.Arg377His)
|
rs142328549
|
0.00039
|
|
NM_001851.6(COL9A1):c.2436G>T (p.Gln812His)
|
rs141830060
|
0.00039
|
|
NM_001853.4(COL9A3):c.1602C>T (p.Ser534=)
|
rs146578812
|
0.00039
|
|
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr)
|
rs151249006
|
0.00039
|
|
NM_001875.5(CPS1):c.2909A>G (p.Asn970Ser)
|
rs150485422
|
0.00039
|
|
NM_002098.6(GUCA1B):c.476-3C>T
|
rs200457582
|
0.00039
|
|
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser)
|
rs138991195
|
0.00039
|
|
NM_002335.4(LRP5):c.4511C>T (p.Pro1504Leu)
|
rs201475647
|
0.00039
|
|
NM_002381.5(MATN3):c.330C>T (p.Ile110=)
|
rs201755444
|
0.00039
|
|
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=)
|
rs146024732
|
0.00039
|
|
NM_003049.4(SLC10A1):c.994G>C (p.Gly332Arg)
|
rs201537069
|
0.00039
|
|
NM_003126.4(SPTA1):c.2608G>A (p.Val870Met)
|
rs140291959
|
0.00039
|
|
NM_003235.5(TG):c.4527C>T (p.His1509=)
|
rs201216611
|
0.00039
|
|
NM_003244.4(TGIF1):c.723G>A (p.Pro241=)
|
rs114912664
|
0.00039
|
|
NM_003465.3(CHIT1):c.605+10A>T
|
rs368307246
|
0.00039
|
|
NM_003477.3(PDHX):c.749C>T (p.Thr250Ile)
|
rs146876119
|
0.00039
|
|
NM_003982.4(SLC7A7):c.999G>A (p.Arg333=)
|
rs146720775
|
0.00039
|
|
NM_004086.3(COCH):c.1009T>C (p.Phe337Leu)
|
rs370525728
|
0.00039
|
|
NM_004369.4(COL6A3):c.1056C>T (p.Leu352=)
|
rs78365682
|
0.00039
|
|
NM_004525.3(LRP2):c.9363C>T (p.Gly3121=)
|
rs146783211
|
0.00039
|
|
NM_004715.5(CTDP1):c.2395C>T (p.Arg799Cys)
|
rs148053048
|
0.00039
|
|
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys)
|
rs141845119
|
0.00039
|
|
NM_005120.3(MED12):c.381G>A (p.Thr127=)
|
rs202125318
|
0.00039
|
|
NM_005373.3(MPL):c.1102G>T (p.Val368Leu)
|
rs149810307
|
0.00039
|
|
NM_005529.7(HSPG2):c.7826G>A (p.Arg2609Gln)
|
rs147286334
|
0.00039
|
|
NM_006005.3(WFS1):c.92C>G (p.Ala31Gly)
|
rs550975729
|
0.00039
|
|
NM_006121.4(KRT1):c.651G>C (p.Gln217His)
|
rs201584652
|
0.00039
|
|
NM_006420.3(ARFGEF2):c.1233C>T (p.Leu411=)
|
rs147617265
|
0.00039
|
|
NM_007294.4(BRCA1):c.301+146A>C
|
rs571713225
|
0.00039
|
|
NM_012062.5(DNM1L):c.1649C>A (p.Ala550Asp)
|
rs143236486
|
0.00039
|
|
NM_014141.6(CNTNAP2):c.1777+13T>G
|
rs188140291
|
0.00039
|
|
NM_014324.6(AMACR):c.603G>A (p.Leu201=)
|
rs200253417
|
0.00039
|
|
NM_014391.3(ANKRD1):c.818T>C (p.Met273Thr)
|
rs183061595
|
0.00039
|
|
NM_014915.3(ANKRD26):c.679C>T (p.Pro227Ser)
|
rs201638257
|
0.00039
|
|
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu)
|
rs148604312
|
0.00039
|
|
NM_015046.7(SETX):c.654G>C (p.Lys218Asn)
|
rs117861188
|
0.00039
|
|
NM_015102.5(NPHP4):c.1478C>T (p.Pro493Leu)
|
rs201801114
|
0.00039
|
|
NM_015295.3(SMCHD1):c.5024A>G (p.His1675Arg)
|
rs201071071
|
0.00039
|
|
NM_015404.4(WHRN):c.1678G>A (p.Ala560Thr)
|
rs182072601
|
0.00039
|
|
NM_016169.4(SUFU):c.1084C>T (p.Arg362Cys)
|
rs36049457
|
0.00039
|
|
NM_017668.3(NDE1):c.948-6833A>G
|
rs111858392
|
0.00039
|
|
NM_017802.4(DNAAF5):c.550C>A (p.Arg184Ser)
|
rs878855039
|
0.00039
|
|
NM_017946.4(FKBP14):c.568_570del (p.Lys190del)
|
rs762279651
|
0.00039
|
|
NM_018668.5(VPS33B):c.1207T>C (p.Leu403=)
|
rs139655526
|
0.00039
|
|
NM_018896.5(CACNA1G):c.6710C>A (p.Pro2237His)
|
rs200141555
|
0.00039
|
|
NM_018979.4(WNK1):c.5050A>G (p.Ile1684Val)
|
rs770568108
|
0.00039
|
|
NM_019112.4(ABCA7):c.3641G>A (p.Trp1214Ter)
|
rs201060968
|
0.00039
|
|
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser)
|
rs148174226
|
0.00039
|
|
NM_020717.5(SHROOM4):c.1675G>A (p.Glu559Lys)
|
rs151329289
|
0.00039
|
|
NM_020975.6(RET):c.1946C>T (p.Ser649Leu)
|
rs148935214
|
0.00039
|
|
NM_021942.6(TRAPPC11):c.2145A>C (p.Glu715Asp)
|
rs139034513
|
0.00039
|
|
NM_022095.4(ZNF335):c.2185A>T (p.Ile729Phe)
|
rs190178539
|
0.00039
|
|
NM_022124.6(CDH23):c.2163C>T (p.Ile721=)
|
rs192326086
|
0.00039
|
|
NM_024408.4(NOTCH2):c.1804G>A (p.Ala602Thr)
|
rs140311741
|
0.00039
|
|
NM_024642.5(GALNT12):c.566A>G (p.Asn189Ser)
|
rs183981750
|
0.00039
|
|
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys)
|
rs370906851
|
0.00039
|
|
NM_032119.4(ADGRV1):c.18040T>C (p.Phe6014Leu)
|
rs201420881
|
0.00039
|
|
NM_032119.4(ADGRV1):c.357+8C>T
|
rs376004946
|
0.00039
|
|
NM_032415.7(CARD11):c.2119C>T (p.Arg707Cys)
|
rs143049136
|
0.00039
|
|
NM_058246.4(DNAJB6):c.831T>G (p.Ser277=)
|
rs369098407
|
0.00039
|
|
NM_133259.4(LRPPRC):c.2020G>A (p.Glu674Lys)
|
rs149243712
|
0.00039
|
|
NM_138694.4(PKHD1):c.12198C>T (p.His4066=)
|
rs147051900
|
0.00039
|
|
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg)
|
rs149841071
|
0.00039
|
|
NM_138694.4(PKHD1):c.7215+13G>T
|
rs562612275
|
0.00039
|
|
NM_139027.6(ADAMTS13):c.415-5C>T
|
rs200230025
|
0.00039
|
|
NM_139125.4(MASP1):c.1143T>C (p.Ser381=)
|
rs141985299
|
0.00039
|
|
NM_144773.4(PROKR2):c.889G>A (p.Val297Ile)
|
rs139399061
|
0.00039
|
|
NM_152393.4(KLHL40):c.238G>C (p.Asp80His)
|
rs144461124
|
0.00039
|
|
NM_173076.3(ABCA12):c.5747C>T (p.Thr1916Ile)
|
rs373276045
|
0.00039
|
|
NM_178554.6(KY):c.988C>T (p.Pro330Ser)
|
rs201201519
|
0.00039
|
|
NM_182476.3(COQ6):c.449A>G (p.His150Arg)
|
rs144880038
|
0.00039
|
|
NM_182961.4(SYNE1):c.13572C>T (p.Val4524=)
|
rs111511993
|
0.00039
|
|
NM_183050.4(BCKDHB):c.411G>A (p.Ala137=)
|
rs142858149
|
0.00039
|
|
NM_000038.6(APC):c.3650A>C (p.Asn1217Thr)
|
rs138933660
|
0.00038
|
|
NM_000038.6(APC):c.5690A>C (p.His1897Pro)
|
rs112610898
|
0.00038
|
|
NM_000051.4(ATM):c.6795C>T (p.Phe2265=)
|
rs3218699
|
0.00038
|
|
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg)
|
rs55801750
|
0.00038
|
|
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val)
|
rs534960245
|
0.00038
|
|
NM_000071.3(CBS):c.394C>T (p.Arg132Cys)
|
rs140002610
|
0.00038
|
|
NM_000088.4(COL1A1):c.740C>T (p.Pro247Leu)
|
rs199626372
|
0.00038
|
|
NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=)
|
rs139070070
|
0.00038
|
|
NM_000098.3(CPT2):c.1477G>A (p.Ala493Thr)
|
rs61731996
|
0.00038
|
|
NM_000098.3(CPT2):c.1941G>A (p.Met647Ile)
|
rs78266699
|
0.00038
|
|
NM_000130.5(F5):c.1391C>T (p.Thr464Ile)
|
rs141768227
|
0.00038
|
|
NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser)
|
rs56394801
|
0.00038
|
|
NM_000152.5(GAA):c.2109C>T (p.Tyr703=)
|
rs150728610
|
0.00038
|
|
NM_000152.5(GAA):c.257C>G (p.Pro86Arg)
|
rs2229222
|
0.00038
|
|
NM_000152.5(GAA):c.600C>T (p.Val200=)
|
rs150895924
|
0.00038
|
|
NM_000213.5(ITGB4):c.1666C>T (p.Arg556Cys)
|
rs150166497
|
0.00038
|
|
NM_000216.4(ANOS1):c.1187C>T (p.Ser396Leu)
|
rs137852517
|
0.00038
|
|
NM_000251.3(MSH2):c.1511-41G>C
|
rs202215396
|
0.00038
|
|
NM_000254.3(MTR):c.1977A>G (p.Lys659=)
|
rs144767461
|
0.00038
|
|
NM_000256.3(MYBPC3):c.3787C>T (p.Arg1263Trp)
|
rs370338674
|
0.00038
|
|
NM_000335.5(SCN5A):c.3748G>A (p.Val1250Met)
|
rs199473600
|
0.00038
|
|
NM_000350.3(ABCA4):c.1240-8G>C
|
rs185225547
|
0.00038
|
|
NM_000392.5(ABCC2):c.3648C>A (p.Asn1216Lys)
|
rs144967259
|
0.00038
|
|
NM_000419.5(ITGA2B):c.207C>T (p.Gly69=)
|
rs375882355
|
0.00038
|
|
NM_000429.3(MAT1A):c.170-12G>A
|
rs200462189
|
0.00038
|
|
NM_000440.3(PDE6A):c.1214A>G (p.Asn405Ser)
|
rs145107955
|
0.00038
|
|
NM_000466.3(PEX1):c.1360-4G>T
|
rs199716270
|
0.00038
|
|
NM_000492.4(CFTR):c.2620-6T>C
|
rs371315682
|
0.00038
|
|
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr)
|
rs1800112
|
0.00038
|
|
NM_000493.4(COL10A1):c.1927G>A (p.Asp643Asn)
|
rs201121404
|
0.00038
|
|
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly)
|
rs756883400
|
0.00038
|
|
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly)
|
rs199738299
|
0.00038
|
|
NM_000709.4(BCKDHA):c.63C>T (p.Ala21=)
|
rs140322984
|
0.00038
|
|
NM_001035.3(RYR2):c.11246-11del
|
rs397516503
|
0.00038
|
|
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys)
|
rs200092869
|
0.00038
|
|
NM_001081.4(CUBN):c.9236+8A>G
|
rs372673718
|
0.00038
|
|
NM_001083961.2(WDR62):c.82C>T (p.Arg28Trp)
|
rs200283315
|
0.00038
|
|
NM_001089.3(ABCA3):c.4012G>A (p.Ala1338Thr)
|
rs149871856
|
0.00038
|
|
NM_001128126.3(AP4S1):c.306+4191A>G
|
rs200969079
|
0.00038
|
|
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser)
|
rs145038571
|
0.00038
|
|
NM_001142864.4(PIEZO1):c.6307C>G (p.Leu2103Val)
|
rs531972155
|
0.00038
|
|
NM_001145809.2(MYH14):c.4705G>T (p.Ala1569Ser)
|
rs145522874
|
0.00038
|
|
NM_001160372.4(TRAPPC9):c.2796C>T (p.Ala932=)
|
rs145607512
|
0.00038
|
|
NM_001161403.3(LIMS2):c.882C>A (p.Asn294Lys)
|
rs149101001
|
0.00038
|
|
NM_001164508.2(NEB):c.4299+7A>G
|
rs373926259
|
0.00038
|
|
NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile)
|
rs144691638
|
0.00038
|
|
NM_001174089.2(SLC4A11):c.893C>T (p.Ala298Val)
|
rs141705330
|
0.00038
|
|
NM_001195263.2(PDZD7):c.1411T>C (p.Phe471Leu)
|
rs141181035
|
0.00038
|
|
NM_001199397.3(NEK1):c.3567C>T (p.Asn1189=)
|
rs200710438
|
0.00038
|
|
NM_001199799.2(ILDR1):c.686T>C (p.Leu229Pro)
|
rs546168333
|
0.00038
|
|
NM_001267550.2(TTN):c.180T>C (p.Asp60=)
|
rs144750850
|
0.00038
|
|
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser)
|
rs201738153
|
0.00038
|
|
NM_001350451.2(RBFOX3):c.19C>T (p.Pro7Ser)
|
rs376060745
|
0.00038
|
|
NM_001360.3(DHCR7):c.582C>T (p.Phe194=)
|
rs150603941
|
0.00038
|
|
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=)
|
rs143477661
|
0.00038
|
|
NM_001368894.2(PAX6):c.753G>A (p.Val251=)
|
rs145329506
|
0.00038
|
|
NM_001375808.2(LPIN2):c.446C>T (p.Pro149Leu)
|
rs147615538
|
0.00038
|
|
NM_001377.3(DYNC2H1):c.5511C>T (p.Asp1837=)
|
rs201953670
|
0.00038
|
|
NM_001377265.1(MAPT):c.889C>A (p.Arg297Ser)
|
rs150983093
|
0.00038
|
|
NM_001378454.1(ALMS1):c.3307C>G (p.Pro1103Ala)
|
rs200257398
|
0.00038
|
|
NM_001478.5(B4GALNT1):c.1144-7C>T
|
rs370107238
|
0.00038
|
|
NM_001701.4(BAAT):c.403C>G (p.Pro135Ala)
|
rs138613717
|
0.00038
|
|
NM_001848.3(COL6A1):c.2857G>A (p.Ala953Thr)
|
rs150378645
|
0.00038
|
|
NM_001848.3(COL6A1):c.349G>A (p.Val117Met)
|
rs150686304
|
0.00038
|
|
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro)
|
rs199681901
|
0.00038
|
|
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln)
|
rs142546324
|
0.00038
|
|
NM_002519.3(NPAT):c.1232A>T (p.Glu411Val)
|
rs201010866
|
0.00038
|
|
NM_002582.4(PARN):c.466G>T (p.Ala156Ser)
|
rs200103366
|
0.00038
|
|
NM_002691.4(POLD1):c.13C>T (p.Arg5Trp)
|
rs9282830
|
0.00038
|
|
NM_002878.4(RAD51D):c.904-11T>A
|
rs374449943
|
0.00038
|
|
NM_002972.4(SBF1):c.142-3C>T
|
rs191369963
|
0.00038
|
|
NM_003072.5(SMARCA4):c.1791T>G (p.Pro597=)
|
rs141806282
|
0.00038
|
|
NM_003235.5(TG):c.8026C>T (p.Arg2676Trp)
|
rs114613744
|
0.00038
|
|
NM_003560.4(PLA2G6):c.416G>A (p.Arg139His)
|
rs141825182
|
0.00038
|
|
NM_003640.5(ELP1):c.1911T>C (p.Val637=)
|
rs369645371
|
0.00038
|
|
NM_003640.5(ELP1):c.2217A>G (p.Lys739=)
|
rs139583037
|
0.00038
|
|
NM_003737.4(DCHS1):c.5543C>G (p.Ala1848Gly)
|
rs145373149
|
0.00038
|
|
NM_004006.3(DMD):c.5181A>T (p.Ile1727=)
|
rs200887855
|
0.00038
|
|
NM_004132.5(HABP2):c.207C>T (p.Tyr69=)
|
rs139478887
|
0.00038
|
|
NM_004281.4(BAG3):c.821C>T (p.Ser274Leu)
|
rs143919208
|
0.00038
|
|
NM_004360.5(CDH1):c.808T>G (p.Ser270Ala)
|
rs587776399
|
0.00038
|
|
NM_004369.4(COL6A3):c.1131C>T (p.Phe377=)
|
rs189772397
|
0.00038
|
|
NM_004415.4(DSP):c.688G>A (p.Asp230Asn)
|
rs147315869
|
0.00038
|
|
NM_005045.4(RELN):c.5136G>A (p.Thr1712=)
|
rs147933593
|
0.00038
|
|
NM_005141.5(FGB):c.534G>C (p.Lys178Asn)
|
rs201909029
|
0.00038
|
|
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln)
|
rs139461096
|
0.00038
|
|
NM_006031.6(PCNT):c.7259C>T (p.Pro2420Leu)
|
rs144633170
|
0.00038
|
|
NM_006348.5(COG5):c.1750-14T>G
|
rs199592702
|
0.00038
|
|
NM_006514.4(SCN10A):c.55G>A (p.Glu19Lys)
|
rs141810266
|
0.00038
|
|
NM_006907.4(PYCR1):c.540C>T (p.Tyr180=)
|
rs150914837
|
0.00038
|
|
NM_006950.3(SYN1):c.1297C>T (p.His433Tyr)
|
rs41298474
|
0.00038
|
|
NM_012203.2(GRHPR):c.666C>T (p.Thr222=)
|
rs146227450
|
0.00038
|
|
NM_012232.6(CAVIN1):c.168C>A (p.Ser56Arg)
|
rs139531639
|
0.00038
|
|
NM_014714.4(IFT140):c.3693G>A (p.Thr1231=)
|
rs144028766
|
0.00038
|
|
NM_014855.3(AP5Z1):c.1806-15C>T
|
rs201620155
|
0.00038
|
|
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala)
|
rs142303658
|
0.00038
|
|
NM_015175.3(NBEAL2):c.3387G>A (p.Ala1129=)
|
rs371065166
|
0.00038
|
|
NM_015506.3(MMACHC):c.691T>C (p.Leu231=)
|
rs373198842
|
0.00038
|
|
NM_015570.4(AUTS2):c.1295C>A (p.Pro432His)
|
rs767529359
|
0.00038
|
|
NM_015965.7(NDUFA13):c.45C>A (p.Gly15=)
|
rs183288709
|
0.00038
|
|
NM_016042.4(EXOSC3):c.52C>T (p.Arg18Cys)
|
rs147135294
|
0.00038
|
|
NM_016042.4(EXOSC3):c.53G>C (p.Arg18Pro)
|
rs145677716
|
0.00038
|
|
NM_016204.4(GDF2):c.917G>A (p.Gly306Asp)
|
rs145635235
|
0.00038
|
|
NM_016219.5(MAN1B1):c.1287C>T (p.His429=)
|
rs145524720
|
0.00038
|
|
NM_017514.5(PLXNA3):c.2936+8G>A
|
rs374246725
|
0.00038
|
|
NM_017612.5(ZCCHC8):c.1652G>A (p.Gly551Asp)
|
rs200494647
|
0.00038
|
|
NM_019066.5(MAGEL2):c.41C>A (p.Pro14Gln)
|
rs769643348
|
0.00038
|
|
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys)
|
rs147407445
|
0.00038
|
|
NM_020442.6(VARS2):c.2980A>G (p.Ile994Val)
|
rs201758263
|
0.00038
|
|
NM_020919.4(ALS2):c.1641G>A (p.Arg547=)
|
rs34122078
|
0.00038
|
|
NM_021098.3(CACNA1H):c.2146G>A (p.Gly716Ser)
|
rs187225648
|
0.00038
|
|
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu)
|
rs371522435
|
0.00038
|
|
NM_022356.4(P3H1):c.2152C>G (p.Pro718Ala)
|
rs533729683
|
0.00038
|
|
NM_022367.4(SEMA4A):c.84G>A (p.Thr28=)
|
rs149711133
|
0.00038
|
|
NM_022436.3(ABCG5):c.1365C>T (p.Asp455=)
|
rs141016088
|
0.00038
|
|
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg)
|
rs201857437
|
0.00038
|
|
NM_032119.4(ADGRV1):c.15608A>G (p.Glu5203Gly)
|
rs202106463
|
0.00038
|
|
NM_032607.3(CREB3L3):c.732dup (p.Lys245fs)
|
rs780374391
|
0.00038
|
|
NM_052989.3(IFT122):c.829C>T (p.Arg277Trp)
|
rs61744448
|
0.00038
|
|
NM_058246.4(DNAJB6):c.48C>T (p.Pro16=)
|
rs150583876
|
0.00038
|
|
NM_080911.3(UNG):c.183G>A (p.Pro61=)
|
rs147490205
|
0.00038
|
|
NM_138694.4(PKHD1):c.1234-9T>C
|
rs200707468
|
0.00038
|
|
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=)
|
rs143737660
|
0.00038
|
|
NM_144628.4(TBC1D20):c.1143G>A (p.Ala381=)
|
rs141648576
|
0.00038
|
|
NM_144997.7(FLCN):c.1155G>T (p.Gln385His)
|
rs141250189
|
0.00038
|
|
NM_152383.5(DIS3L2):c.1205-13C>T
|
rs116327839
|
0.00038
|
|
NM_178335.3(CCDC50):c.1429+5G>A
|
rs375535283
|
0.00038
|
|
NM_182914.3(SYNE2):c.6511C>G (p.Leu2171Val)
|
rs199743242
|
0.00038
|
|
NM_182961.4(SYNE1):c.12564C>T (p.Ser4188=)
|
rs141202420
|
0.00038
|
|
NM_194248.3(OTOF):c.3332C>T (p.Pro1111Leu)
|
rs141972928
|
0.00038
|
|
NM_206933.4(USH2A):c.6930G>A (p.Thr2310=)
|
rs146406377
|
0.00038
|
|
NM_000027.4(AGA):c.885G>A (p.Lys295=)
|
rs34019119
|
0.00037
|
|
NM_000096.4(CP):c.938C>T (p.Thr313Ile)
|
rs144401501
|
0.00037
|
|
NM_000098.3(CPT2):c.1602G>A (p.Glu534=)
|
rs148110518
|
0.00037
|
|
NM_000135.4(FANCA):c.1904C>T (p.Ala635Val)
|
rs142217479
|
0.00037
|
|
NM_000143.3(FH):c.*266A>G
|
rs113667027
|
0.00037
|
|
NM_000154.2(GALK1):c.747G>A (p.Ala249=)
|
rs140053358
|
0.00037
|
|
NM_000179.3(MSH6):c.1449G>T (p.Val483=)
|
rs35590297
|
0.00037
|
|
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser)
|
rs34938432
|
0.00037
|
|
NM_000249.4(MLH1):c.977T>C (p.Val326Ala)
|
rs63751049
|
0.00037
|
|
NM_000260.4(MYO7A):c.735+3G>A
|
rs371398512
|
0.00037
|
|
NM_000304.4(PMP22):c.-34-5C>T
|
rs375105159
|
0.00037
|
|
NM_000320.3(QDPR):c.450C>T (p.Tyr150=)
|
rs140949360
|
0.00037
|
|
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)
|
rs140482171
|
0.00037
|
|
NM_000350.3(ABCA4):c.1692A>G (p.Pro564=)
|
rs143263315
|
0.00037
|
|
NM_000388.4(CASR):c.2064C>T (p.Phe688=)
|
rs150869744
|
0.00037
|
|
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu)
|
rs145404046
|
0.00037
|
|
NM_000426.4(LAMA2):c.2857-13C>T
|
rs201188972
|
0.00037
|
|
NM_000426.4(LAMA2):c.4944C>T (p.Asn1648=)
|
rs111632017
|
0.00037
|
|
NM_000441.2(SLC26A4):c.441G>A (p.Met147Ile)
|
rs201905280
|
0.00037
|
|
NM_000525.4(KCNJ11):c.37G>A (p.Val13Met)
|
rs139079635
|
0.00037
|
|
NM_000536.4(RAG2):c.477C>T (p.Arg159=)
|
rs141659100
|
0.00037
|
|
NM_000540.3(RYR1):c.12553G>A (p.Ala4185Thr)
|
rs151119428
|
0.00037
|
|
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=)
|
rs193922584
|
0.00037
|
|
NM_000780.4(CYP7A1):c.123C>T (p.Tyr41=)
|
rs150351766
|
0.00037
|
|
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=)
|
rs138596741
|
0.00037
|
|
NM_001005271.3(CHD3):c.251C>T (p.Pro84Leu)
|
rs766660828
|
0.00037
|
|
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser)
|
rs540805431
|
0.00037
|
|
NM_001039141.3(TRIOBP):c.709C>T (p.Arg237Trp)
|
rs144995033
|
0.00037
|
|
NM_001042492.3(NF1):c.731-6A>C
|
rs369366499
|
0.00037
|
|
NM_001083962.2(TCF4):c.504A>G (p.Val168=)
|
rs370160994
|
0.00037
|
|
NM_001099287.2(NIPAL4):c.919G>A (p.Val307Ile)
|
rs137909022
|
0.00037
|
|
NM_001110792.2(MECP2):c.*14G>A
|
rs199963992
|
0.00037
|
|
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser)
|
rs142896669
|
0.00037
|
|
NM_001128840.3(CACNA1D):c.1477T>A (p.Cys493Ser)
|
rs139380111
|
0.00037
|
|
NM_001130987.2(DYSF):c.4542C>T (p.Ile1514=)
|
rs148055736
|
0.00037
|
|
NM_001142800.2(EYS):c.2553C>T (p.Asn851=)
|
rs771641817
|
0.00037
|
|
NM_001145809.2(MYH14):c.3850C>T (p.Arg1284Trp)
|
rs201515738
|
0.00037
|
|
NM_001171.6(ABCC6):c.2848G>A (p.Ala950Thr)
|
rs72657689
|
0.00037
|
|
NM_001244008.2(KIF1A):c.4778C>T (p.Pro1593Leu)
|
rs200902828
|
0.00037
|
|
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr)
|
rs72648940
|
0.00037
|
|
NM_001267550.2(TTN):c.76987G>A (p.Asp25663Asn)
|
rs143186270
|
0.00037
|
|
NM_001267550.2(TTN):c.98500G>A (p.Glu32834Lys)
|
rs199761901
|
0.00037
|
|
NM_001277115.2(DNAH11):c.11884G>A (p.Val3962Met)
|
rs199719583
|
0.00037
|
|
NM_001369.3(DNAH5):c.3179A>T (p.Lys1060Met)
|
rs145672251
|
0.00037
|
|
NM_001378454.1(ALMS1):c.3375A>G (p.Val1125=)
|
rs189914793
|
0.00037
|
|
NM_001378454.1(ALMS1):c.4316A>C (p.Tyr1439Ser)
|
rs201971114
|
0.00037
|
|
NM_001378457.1(DMXL2):c.3949A>G (p.Ile1317Val)
|
rs148766950
|
0.00037
|
|
NM_001386795.1(DTNA):c.1480G>A (p.Asp494Asn)
|
rs144880521
|
0.00037
|
|
NM_001854.4(COL11A1):c.892A>G (p.Thr298Ala)
|
rs144966407
|
0.00037
|
|
NM_001943.5(DSG2):c.716T>C (p.Val239Ala)
|
rs200997703
|
0.00037
|
|
NM_002427.4(MMP13):c.438C>T (p.Ser146=)
|
rs17860530
|
0.00037
|
|
NM_002529.4(NTRK1):c.*6C>T
|
rs370807813
|
0.00037
|
|
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser)
|
rs140825795
|
0.00037
|
|
NM_002907.4(RECQL):c.401C>T (p.Thr134Ile)
|
rs150306543
|
0.00037
|
|
NM_002907.4(RECQL):c.809G>A (p.Cys270Tyr)
|
rs149763880
|
0.00037
|
|
NM_003126.4(SPTA1):c.1351-4A>G
|
rs200868774
|
0.00037
|
|
NM_003620.4(PPM1D):c.131C>G (p.Ser44Trp)
|
rs373862041
|
0.00037
|
|
NM_003977.4(AIP):c.26G>A (p.Arg9Gln)
|
rs139459091
|
0.00037
|
|
NM_004064.5(CDKN1B):c.155T>G (p.Met52Arg)
|
rs543122580
|
0.00037
|
|
NM_004100.5(EYA4):c.979G>A (p.Asp327Asn)
|
rs144415484
|
0.00037
|
|
NM_004168.4(SDHA):c.622-8T>C
|
rs370714378
|
0.00037
|
|
NM_004369.4(COL6A3):c.5839-3C>T
|
rs112825341
|
0.00037
|
|
NM_004990.4(MARS1):c.1127G>A (p.Arg376Gln)
|
rs150428018
|
0.00037
|
|
NM_005219.5(DIAPH1):c.3574+10G>A
|
rs200327015
|
0.00037
|
|
NM_005535.3(IL12RB1):c.261C>T (p.Cys87=)
|
rs373545812
|
0.00037
|
|
NM_005876.5(SPEG):c.1649C>T (p.Pro550Leu)
|
rs747464249
|
0.00037
|
|
NM_006059.4(LAMC3):c.1019G>A (p.Arg340Gln)
|
rs149004188
|
0.00037
|
|
NM_006612.6(KIF1C):c.884C>T (p.Ser295Leu)
|
rs145650252
|
0.00037
|
|
NM_007194.4(CHEK2):c.*18C>T
|
rs17884403
|
0.00037
|
|
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=)
|
rs75746974
|
0.00037
|
|
NM_012470.4(TNPO3):c.275C>T (p.Thr92Ile)
|
rs61756250
|
0.00037
|
|
NM_014140.4(SMARCAL1):c.2641A>C (p.Lys881Gln)
|
rs190386780
|
0.00037
|
|
NM_014391.3(ANKRD1):c.313C>T (p.Pro105Ser)
|
rs148189486
|
0.00037
|
|
NM_015295.3(SMCHD1):c.2838T>C (p.Ala946=)
|
rs375251871
|
0.00037
|
|
NM_018648.4(NOP10):c.55-9C>T
|
rs72720799
|
0.00037
|
|
NM_020549.5(CHAT):c.1883G>A (p.Arg628Gln)
|
rs114545628
|
0.00037
|
|
NM_020884.7(MYH7B):c.3440C>T (p.Ala1147Val)
|
rs374221267
|
0.00037
|
|
NM_022089.4(ATP13A2):c.2020G>A (p.Ala674Thr)
|
rs143834546
|
0.00037
|
|
NM_024596.5(MCPH1):c.664T>C (p.Cys222Arg)
|
rs41313952
|
0.00037
|
|
NM_024678.6(NARS2):c.1262+6G>A
|
rs185461968
|
0.00037
|
|
NM_025114.4(CEP290):c.943-4C>T
|
rs199770158
|
0.00037
|
|
NM_025114.4(CEP290):c.943-8A>T
|
rs200729812
|
0.00037
|
|
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val)
|
rs200512504
|
0.00037
|
|
NM_033380.3(COL4A5):c.2216C>A (p.Pro739His)
|
rs201123438
|
0.00037
|
|
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=)
|
rs140021654
|
0.00037
|
|
NM_138295.5(PKD1L1):c.3845T>A (p.Val1282Glu)
|
rs138130715
|
0.00037
|
|
NM_138395.4(MARS2):c.61C>G (p.Leu21Val)
|
rs140705634
|
0.00037
|
|
NM_138694.4(PKHD1):c.5381-12T>C
|
rs143682303
|
0.00037
|
|
NM_144997.7(FLCN):c.1201C>T (p.Arg401Cys)
|
rs143183215
|
0.00037
|
|
NM_172107.4(KCNQ2):c.795G>A (p.Ala265=)
|
rs148654588
|
0.00037
|
|
NM_173076.3(ABCA12):c.2945A>C (p.Lys982Thr)
|
rs142196906
|
0.00037
|
|
NM_177972.3(TUB):c.1180A>G (p.Met394Val)
|
rs139456896
|
0.00037
|
|
NM_182914.3(SYNE2):c.2270T>C (p.Leu757Ser)
|
rs200319405
|
0.00037
|
|
NM_201384.3(PLEC):c.11329G>A (p.Glu3777Lys)
|
rs538589589
|
0.00037
|
|
NM_201384.3(PLEC):c.12718G>A (p.Ala4240Thr)
|
rs201688261
|
0.00037
|
|
NM_213599.3(ANO5):c.720G>T (p.Leu240=)
|
rs147121216
|
0.00037
|
|
NM_000026.4(ADSL):c.363G>A (p.Leu121=)
|
rs138203195
|
0.00036
|
|
NM_000030.3(AGXT):c.424-4T>C
|
rs369523966
|
0.00036
|
|
NM_000038.6(APC):c.6857C>T (p.Ala2286Val)
|
rs200587641
|
0.00036
|
|
NM_000070.3(CAPN3):c.2409A>G (p.Gly803=)
|
rs143139259
|
0.00036
|
|
NM_000135.4(FANCA):c.3981C>T (p.His1327=)
|
rs141278771
|
0.00036
|
|
NM_000152.5(GAA):c.2652G>A (p.Thr884=)
|
rs143642048
|
0.00036
|
|
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met)
|
rs34374438
|
0.00036
|
|
NM_000211.5(ITGB2):c.2145C>T (p.Ile715=)
|
rs144590448
|
0.00036
|
|
NM_000218.3(KCNQ1):c.458C>T (p.Thr153Met)
|
rs143709408
|
0.00036
|
|
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val)
|
rs137958217
|
0.00036
|
|
NM_000256.3(MYBPC3):c.1286C>T (p.Ala429Val)
|
rs370412052
|
0.00036
|
|
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys)
|
rs199669878
|
0.00036
|
|
NM_000256.3(MYBPC3):c.906-7G>T
|
rs397516079
|
0.00036
|
|
NM_000258.3(MYL3):c.307+15C>T
|
rs184025552
|
0.00036
|
|
NM_000260.4(MYO7A):c.2057G>A (p.Arg686His)
|
rs781991817
|
0.00036
|
|
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln)
|
rs202245413
|
0.00036
|
|
NM_000260.4(MYO7A):c.6615G>A (p.Met2205Ile)
|
rs200359303
|
0.00036
|
|
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln)
|
rs56023271
|
0.00036
|
|
NM_000277.3(PAH):c.609C>T (p.Cys203=)
|
rs1801147
|
0.00036
|
|
NM_000282.4(PCCA):c.2055A>G (p.Gln685=)
|
rs147568036
|
0.00036
|
|
NM_000287.4(PEX6):c.-2C>G
|
rs376675730
|
0.00036
|
|
NM_000383.4(AIRE):c.599C>T (p.Pro200Leu)
|
rs140196414
|
0.00036
|
|
NM_000384.3(APOB):c.4187T>C (p.Val1396Ala)
|
rs144034290
|
0.00036
|
|
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly)
|
rs140952583
|
0.00036
|
|
NM_000414.4(HSD17B4):c.2176C>G (p.Leu726Val)
|
rs145728297
|
0.00036
|
|
NM_000419.5(ITGA2B):c.487T>C (p.Leu163=)
|
rs141497408
|
0.00036
|
|
NM_000435.3(NOTCH3):c.3658C>T (p.Arg1220Trp)
|
rs115872852
|
0.00036
|
|
NM_000463.3(UGT1A1):c.159G>A (p.Arg53=)
|
rs149071335
|
0.00036
|
|
NM_000492.4(CFTR):c.1766+73T>G
|
rs397508299
|
0.00036
|
|
NM_000492.4(CFTR):c.1920T>C (p.Phe640=)
|
rs145877746
|
0.00036
|
|
NM_000494.4(COL17A1):c.3739C>T (p.Arg1247Trp)
|
rs144220426
|
0.00036
|
|
NM_000501.4(ELN):c.1358-225T>C
|
rs375867140
|
0.00036
|
|
NM_000540.3(RYR1):c.11439+9G>A
|
rs369650355
|
0.00036
|
|
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg)
|
rs121912775
|
0.00036
|
|
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met)
|
rs74772771
|
0.00036
|
|
NM_000751.3(CHRND):c.198+14C>T
|
rs199538903
|
0.00036
|
|
NM_001018115.3(FANCD2):c.2180C>T (p.Pro727Leu)
|
rs146509445
|
0.00036
|
|
NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro)
|
rs121918282
|
0.00036
|
|
NM_001042472.3(ABHD12):c.1041C>T (p.Ile347=)
|
rs188888939
|
0.00036
|
|
NM_001065.4(TNFRSF1A):c.369C>T (p.Thr123=)
|
rs104895260
|
0.00036
|
|
NM_001080421.3(UNC13A):c.739G>A (p.Glu247Lys)
|
rs200805380
|
0.00036
|
|
NM_001083962.2(TCF4):c.790-9T>C
|
rs373434281
|
0.00036
|
|
NM_001126049.2(KLLN):c.-840G>A
|
rs563841270
|
0.00036
|
|
NM_001126108.2(SLC12A3):c.2363C>T (p.Ala788Val)
|
rs147517227
|
0.00036
|
|
NM_001128840.3(CACNA1D):c.2729G>A (p.Arg910His)
|
rs115066564
|
0.00036
|
|
NM_001128840.3(CACNA1D):c.3853G>A (p.Ala1285Thr)
|
rs144474773
|
0.00036
|
|
NM_001130987.2(DYSF):c.3086-9C>T
|
rs185350547
|
0.00036
|
|
NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=)
|
rs145412880
|
0.00036
|
|
NM_001134363.3(RBM20):c.2887A>G (p.Lys963Glu)
|
rs371951525
|
0.00036
|
|
NM_001142800.2(EYS):c.3586T>C (p.Cys1196Arg)
|
rs374409854
|
0.00036
|
|
NM_001142864.4(PIEZO1):c.2590G>A (p.Val864Ile)
|
rs565096713
|
0.00036
|
|
NM_001142864.4(PIEZO1):c.4252T>C (p.Tyr1418His)
|
rs147153006
|
0.00036
|
|
NM_001142864.4(PIEZO1):c.6473A>G (p.Lys2158Arg)
|
rs200506892
|
0.00036
|
|
NM_001145809.2(MYH14):c.1115-4C>T
|
rs142696359
|
0.00036
|
|
NM_001164508.2(NEB):c.12688A>G (p.Ile4230Val)
|
rs532986882
|
0.00036
|
|
NM_001170629.2(CHD8):c.4304A>T (p.His1435Leu)
|
rs199879706
|
0.00036
|
|
NM_001170629.2(CHD8):c.5402G>A (p.Arg1801His)
|
rs201604061
|
0.00036
|
|
NM_001184.4(ATR):c.2704T>C (p.Ser902Pro)
|
rs146202702
|
0.00036
|
|
NM_001184.4(ATR):c.4405A>G (p.Thr1469Ala)
|
rs78895258
|
0.00036
|
|
NM_001247997.2(CLIP1):c.2571A>G (p.Lys857=)
|
rs34177347
|
0.00036
|
|
NM_001267550.2(TTN):c.2599A>G (p.Ser867Gly)
|
rs148631577
|
0.00036
|
|
NM_001267550.2(TTN):c.69904G>A (p.Val23302Ile)
|
rs190421400
|
0.00036
|
|
NM_001267550.2(TTN):c.75361A>G (p.Ile25121Val)
|
rs199508062
|
0.00036
|
|
NM_001267550.2(TTN):c.79410G>A (p.Gly26470=)
|
rs140942979
|
0.00036
|
|
NM_001267550.2(TTN):c.9488G>A (p.Arg3163His)
|
rs149755500
|
0.00036
|
|
NM_001273.5(CHD4):c.3088A>G (p.Met1030Val)
|
rs140410250
|
0.00036
|
|
NM_001277115.2(DNAH11):c.6302A>G (p.Asn2101Ser)
|
rs201618995
|
0.00036
|
|
NM_001277115.2(DNAH11):c.9022A>G (p.Ile3008Val)
|
rs369862935
|
0.00036
|
|
NM_001291303.3(FAT4):c.12066C>T (p.Gly4022=)
|
rs144476127
|
0.00036
|
|
NM_001318895.3(FHL2):c.337C>T (p.Arg113Cys)
|
rs140148322
|
0.00036
|
|
NM_001352514.2(HLCS):c.1811G>A (p.Arg604His)
|
rs74574054
|
0.00036
|
|
NM_001355436.2(SPTB):c.4001C>T (p.Ala1334Val)
|
rs113139501
|
0.00036
|
|
NM_001371986.1(UNC80):c.2534C>T (p.Thr845Ile)
|
rs372195299
|
0.00036
|
|
NM_001374828.1(ARID1B):c.927C>T (p.Ala309=)
|
rs1450163641
|
0.00036
|
|
NM_001378414.1(HDAC4):c.2190G>A (p.Thr730=)
|
rs149067286
|
0.00036
|
|
NM_001378454.1(ALMS1):c.4329G>T (p.Leu1443Phe)
|
rs192499639
|
0.00036
|
|
NM_001378454.1(ALMS1):c.8359A>G (p.Ile2787Val)
|
rs200075429
|
0.00036
|
|
NM_001378615.1(CC2D2A):c.4296T>C (p.Cys1432=)
|
rs372671421
|
0.00036
|
|
NM_001378615.1(CC2D2A):c.4438-9C>A
|
rs117667651
|
0.00036
|
|
NM_001388492.1(HTT):c.7010A>G (p.Lys2337Arg)
|
rs186882443
|
0.00036
|
|
NM_001393500.2(TOMT):c.596C>T (p.Ala199Val)
|
rs540371915
|
0.00036
|
|
NM_001754.5(RUNX1):c.698G>A (p.Arg233His)
|
rs150042294
|
0.00036
|
|
NM_001854.4(COL11A1):c.1427G>A (p.Arg476His)
|
rs149558726
|
0.00036
|
|
NM_001876.4(CPT1A):c.930G>C (p.Arg310=)
|
rs147373480
|
0.00036
|
|
NM_001887.4(CRYBB1):c.744A>G (p.Thr248=)
|
rs142495368
|
0.00036
|
|
NM_001909.5(CTSD):c.827+13T>C
|
rs369602025
|
0.00036
|
|
NM_001953.5(TYMP):c.1028T>G (p.Phe343Cys)
|
rs762630777
|
0.00036
|
|
NM_001953.5(TYMP):c.995C>T (p.Ala332Val)
|
rs778306525
|
0.00036
|
|
NM_001966.4(EHHADH):c.1093T>G (p.Leu365Val)
|
rs140461295
|
0.00036
|
|
NM_002335.4(LRP5):c.144C>T (p.Ala48=)
|
rs776920568
|
0.00036
|
|
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met)
|
rs145611185
|
0.00036
|
|
NM_002474.3(MYH11):c.5271C>A (p.Asp1757Glu)
|
rs146043349
|
0.00036
|
|
NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr)
|
rs147710374
|
0.00036
|
|
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp)
|
rs145252402
|
0.00036
|
|
NM_002637.4(PHKA1):c.868C>T (p.Arg290Cys)
|
rs138752449
|
0.00036
|
|
NM_002693.3(POLG):c.131A>G (p.Gln44Arg)
|
rs757120802
|
0.00036
|
|
NM_002734.5(PRKAR1A):c.221G>A (p.Arg74His)
|
rs200069356
|
0.00036
|
|
NM_002857.4(PEX19):c.402T>C (p.Ser134=)
|
rs139828188
|
0.00036
|
|
NM_002972.4(SBF1):c.5471G>A (p.Arg1824His)
|
rs202149945
|
0.00036
|
|
NM_003282.4(TNNI2):c.54G>C (p.Leu18=)
|
rs181679318
|
0.00036
|
|
NM_003383.5(VLDLR):c.792C>T (p.Cys264=)
|
rs141850403
|
0.00036
|
|
NM_003482.4(KMT2D):c.11037A>G (p.Gln3679=)
|
rs374418866
|
0.00036
|
|
NM_003640.5(ELP1):c.2436C>T (p.Asp812=)
|
rs113967847
|
0.00036
|
|
NM_003737.4(DCHS1):c.6133C>T (p.Arg2045Cys)
|
rs147594191
|
0.00036
|
|
NM_003742.4(ABCB11):c.2907G>A (p.Lys969=)
|
rs201881755
|
0.00036
|
|
NM_003850.3(SUCLA2):c.1350G>A (p.Ala450=)
|
rs144969057
|
0.00036
|
|
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly)
|
rs147822019
|
0.00036
|
|
NM_004006.3(DMD):c.6320G>A (p.Arg2107Gln)
|
rs142807436
|
0.00036
|
|
NM_004260.4(RECQL4):c.2426G>A (p.Gly809Glu)
|
rs550469990
|
0.00036
|
|
NM_004444.5(EPHB4):c.1384G>A (p.Gly462Arg)
|
rs146674844
|
0.00036
|
|
NM_004522.3(KIF5C):c.576C>T (p.His192=)
|
rs376592911
|
0.00036
|
|
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser)
|
rs141259922
|
0.00036
|
|
NM_004698.4(PRPF3):c.1032A>G (p.Thr344=)
|
rs143350315
|
0.00036
|
|
NM_004937.3(CTNS):c.94G>A (p.Val32Ile)
|
rs146684402
|
0.00036
|
|
NM_004963.4(GUCY2C):c.1279C>T (p.Arg427Trp)
|
rs150939711
|
0.00036
|
|
NM_005138.3(SCO2):c.237G>A (p.Arg79=)
|
rs150485659
|
0.00036
|
|
NM_005188.4(CBL):c.2363G>A (p.Arg788Gln)
|
rs150811339
|
0.00036
|
|
NM_005199.5(CHRNG):c.507-12G>A
|
rs184423691
|
0.00036
|
|
NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala)
|
rs199749212
|
0.00036
|
|
NM_005476.7(GNE):c.1509C>G (p.Pro503=)
|
rs141172610
|
0.00036
|
|
NM_005477.3(HCN4):c.2181C>T (p.His727=)
|
rs140354126
|
0.00036
|
|
NM_005559.4(LAMA1):c.5789C>T (p.Thr1930Met)
|
rs142286229
|
0.00036
|
|
NM_005732.4(RAD50):c.2397G>C (p.Gln799His)
|
rs61749630
|
0.00036
|
|
NM_006005.3(WFS1):c.-141A>G
|
rs373287522
|
0.00036
|
|
NM_006073.4(TRDN):c.1472-12G>A
|
rs375364108
|
0.00036
|
|
NM_006073.4(TRDN):c.367G>A (p.Asp123Asn)
|
rs201021891
|
0.00036
|
|
NM_006267.5(RANBP2):c.7751A>G (p.Asp2584Gly)
|
rs138022657
|
0.00036
|
|
NM_006348.5(COG5):c.264A>G (p.Ala88=)
|
rs113660545
|
0.00036
|
|
NM_006440.5(TXNRD2):c.650C>A (p.Ser217Tyr)
|
rs201913959
|
0.00036
|
|
NM_006514.4(SCN10A):c.251C>T (p.Pro84Leu)
|
rs140609990
|
0.00036
|
|
NM_006516.4(SLC2A1):c.498C>T (p.Val166=)
|
rs150971143
|
0.00036
|
|
NM_006922.4(SCN3A):c.3087C>G (p.Ala1029=)
|
rs143360102
|
0.00036
|
|
NM_007078.3(LDB3):c.1594G>C (p.Ala532Pro)
|
rs143764931
|
0.00036
|
|
NM_007078.3(LDB3):c.664G>A (p.Ala222Thr)
|
rs139922045
|
0.00036
|
|
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu)
|
rs564605612
|
0.00036
|
|
NM_012463.4(ATP6V0A2):c.522-9G>A
|
rs189175284
|
0.00036
|
|
NM_012472.6(DNAAF11):c.1391C>T (p.Pro464Leu)
|
rs139131485
|
0.00036
|
|
NM_014141.6(CNTNAP2):c.3247+15A>G
|
rs201602527
|
0.00036
|
|
NM_014236.4(GNPAT):c.1095T>C (p.Phe365=)
|
rs139272614
|
0.00036
|
|
NM_014780.5(CUL7):c.3432G>A (p.Thr1144=)
|
rs144556973
|
0.00036
|
|
NM_014844.5(TECPR2):c.516A>G (p.Pro172=)
|
rs142385149
|
0.00036
|
|
NM_015662.3(IFT172):c.4363C>T (p.Arg1455Trp)
|
rs184506506
|
0.00036
|
|
NM_016123.4(IRAK4):c.720T>C (p.Cys240=)
|
rs144854858
|
0.00036
|
|
NM_016203.4(PRKAG2):c.251G>A (p.Arg84Gln)
|
rs201953758
|
0.00036
|
|
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu)
|
rs201689819
|
0.00036
|
|
NM_017654.4(SAMD9):c.4673T>A (p.Leu1558Ter)
|
rs150862618
|
0.00036
|
|
NM_017780.4(CHD7):c.6216C>G (p.Pro2072=)
|
rs199828744
|
0.00036
|
|
NM_018136.5(ASPM):c.6702A>G (p.Gln2234=)
|
rs142587742
|
0.00036
|
|
NM_018297.4(NGLY1):c.1560C>T (p.Gly520=)
|
rs138477428
|
0.00036
|
|
NM_018451.5(CENPJ):c.1513G>A (p.Glu505Lys)
|
rs145679691
|
0.00036
|
|
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys)
|
rs200128474
|
0.00036
|
|
NM_020549.5(CHAT):c.1087G>A (p.Glu363Lys)
|
rs75262191
|
0.00036
|
|
NM_020822.3(KCNT1):c.885G>A (p.Ala295=)
|
rs142756900
|
0.00036
|
|
NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn)
|
rs201161419
|
0.00036
|
|
NM_020975.6(RET):c.200G>A (p.Arg67His)
|
rs192489011
|
0.00036
|
|
NM_020987.5(ANK3):c.6555G>T (p.Gln2185His)
|
rs144465058
|
0.00036
|
|
NM_021098.3(CACNA1H):c.809A>C (p.Asn270Thr)
|
rs200520956
|
0.00036
|
|
NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val)
|
rs115976458
|
0.00036
|
|
NM_022437.3(ABCG8):c.1160C>T (p.Pro387Leu)
|
rs150654176
|
0.00036
|
|
NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys)
|
rs150890296
|
0.00036
|
|
NM_022437.3(ABCG8):c.1473A>G (p.Pro491=)
|
rs146046068
|
0.00036
|
|
NM_022455.5(NSD1):c.3215G>A (p.Arg1072Gln)
|
rs28932180
|
0.00036
|
|
NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val)
|
rs145602856
|
0.00036
|
|
NM_024422.6(DSC2):c.1914G>C (p.Gln638His)
|
rs147742157
|
0.00036
|
|
NM_024577.4(SH3TC2):c.2552G>A (p.Arg851Gln)
|
rs751621364
|
0.00036
|
|
NM_024753.5(TTC21B):c.2815C>T (p.Arg939Trp)
|
rs151227843
|
0.00036
|
|
NM_024996.7(GFM1):c.1032C>T (p.Asn344=)
|
rs373952002
|
0.00036
|
|
NM_025074.7(FRAS1):c.9627C>T (p.Tyr3209=)
|
rs377369857
|
0.00036
|
|
NM_025099.6(CTC1):c.1734C>T (p.Ala578=)
|
rs374985738
|
0.00036
|
|
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val)
|
rs201569048
|
0.00036
|
|
NM_030973.4(MED25):c.135-6T>G
|
rs199743509
|
0.00036
|
|
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val)
|
rs200789563
|
0.00036
|
|
NM_032119.4(ADGRV1):c.4032C>T (p.Tyr1344=)
|
rs376636949
|
0.00036
|
|
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln)
|
rs200792658
|
0.00036
|
|
NM_032444.4(SLX4):c.2681T>G (p.Val894Gly)
|
rs145137472
|
0.00036
|
|
NM_032575.3(GLIS2):c.239A>T (p.Asp80Val)
|
rs144447862
|
0.00036
|
|
NM_032861.4(SERAC1):c.1660T>G (p.Leu554Val)
|
rs149034301
|
0.00036
|
|
NM_033004.4(NLRP1):c.103A>G (p.Arg35Gly)
|
rs201788309
|
0.00036
|
|
NM_033028.5(BBS4):c.1140G>A (p.Val380=)
|
rs141511580
|
0.00036
|
|
NM_052989.3(IFT122):c.1252G>A (p.Asp418Asn)
|
rs148626512
|
0.00036
|
|
NM_133379.5(TTN):c.10646G>A (p.Arg3549His)
|
rs148115514
|
0.00036
|
|
NM_138694.4(PKHD1):c.333C>T (p.Phe111=)
|
rs145815264
|
0.00036
|
|
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val)
|
rs45627337
|
0.00036
|
|
NM_139027.6(ADAMTS13):c.1261C>T (p.Arg421Cys)
|
rs145825553
|
0.00036
|
|
NM_139027.6(ADAMTS13):c.1810G>A (p.Val604Ile)
|
rs34256013
|
0.00036
|
|
NM_152564.5(VPS13B):c.4757A>G (p.Asn1586Ser)
|
rs147342579
|
0.00036
|
|
NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu)
|
rs144989330
|
0.00036
|
|
NM_182914.3(SYNE2):c.13156C>G (p.Gln4386Glu)
|
rs140277551
|
0.00036
|
|
NM_182914.3(SYNE2):c.15857A>G (p.Tyr5286Cys)
|
rs149354607
|
0.00036
|
|
NM_182961.4(SYNE1):c.15657+5T>A
|
rs199779021
|
0.00036
|
|
NM_194248.3(OTOF):c.1640C>T (p.Thr547Met)
|
rs200191563
|
0.00036
|
|
NM_194248.3(OTOF):c.5292-9C>T
|
rs372713647
|
0.00036
|
|
NM_194248.3(OTOF):c.748C>T (p.Arg250Trp)
|
rs373680242
|
0.00036
|
|
NM_198129.4(LAMA3):c.5621T>C (p.Leu1874Ser)
|
rs139348197
|
0.00036
|
|
NM_201384.3(PLEC):c.8871G>A (p.Lys2957=)
|
rs368326361
|
0.00036
|
|
NM_000037.4(ANK1):c.229-11A>G
|
rs372152994
|
0.00035
|
|
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)
|
rs56009889
|
0.00035
|
|
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=)
|
rs4987049
|
0.00035
|
|
NM_000088.4(COL1A1):c.334-5C>A
|
rs115997082
|
0.00035
|
|
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)
|
rs190598500
|
0.00035
|
|
NM_000130.5(F5):c.4835A>T (p.Asp1612Val)
|
rs141589936
|
0.00035
|
|
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp)
|
rs143642304
|
0.00035
|
|
NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu)
|
rs139968089
|
0.00035
|
|
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu)
|
rs56127440
|
0.00035
|
|
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=)
|
rs150892928
|
0.00035
|
|
NM_000208.4(INSR):c.151G>A (p.Glu51Lys)
|
rs140852238
|
0.00035
|
|
NM_000211.5(ITGB2):c.742-15A>G
|
rs199665785
|
0.00035
|
|
NM_000222.3(KIT):c.821C>T (p.Thr274Met)
|
rs138585275
|
0.00035
|
|
NM_000233.4(LHCGR):c.430G>A (p.Val144Ile)
|
rs121912539
|
0.00035
|
|
NM_000243.3(MEFV):c.1260+10C>T
|
rs104895137
|
0.00035
|
|
NM_000243.3(MEFV):c.372C>T (p.Pro124=)
|
rs104895078
|
0.00035
|
|
NM_000246.4(CIITA):c.456G>A (p.Pro152=)
|
rs151317882
|
0.00035
|
|
NM_000257.4(MYH7):c.2334C>T (p.Asp778=)
|
rs2069544
|
0.00035
|
|
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser)
|
rs117966637
|
0.00035
|
|
NM_000260.4(MYO7A):c.849+7C>G
|
rs370740228
|
0.00035
|
|
NM_000282.4(PCCA):c.2037C>T (p.Asp679=)
|
rs146870931
|
0.00035
|
|
NM_000295.5(SERPINA1):c.924C>T (p.Ala308=)
|
rs138611390
|
0.00035
|
|
NM_000303.3(PMM2):c.713G>A (p.Arg238His)
|
rs151319324
|
0.00035
|
|
NM_000325.6(PITX2):c.862C>T (p.Leu288=)
|
rs139401187
|
0.00035
|
|
NM_000340.2(SLC2A2):c.247G>A (p.Glu83Lys)
|
rs150851401
|
0.00035
|
|
NM_000455.5(STK11):c.1284G>A (p.Ser428=)
|
rs369097329
|
0.00035
|
|
NM_000521.4(HEXB):c.1248G>A (p.Ala416=)
|
rs137915238
|
0.00035
|
|
NM_000535.7(PMS2):c.1864A>G (p.Met622Val)
|
rs370853512
|
0.00035
|
|
NM_000540.3(RYR1):c.2658C>T (p.Ile886=)
|
rs148094797
|
0.00035
|
|
NM_000545.8(HNF1A):c.1501+6C>T
|
rs374306837
|
0.00035
|
|
NM_000548.5(TSC2):c.1512C>G (p.Val504=)
|
rs146359990
|
0.00035
|
|
NM_001005373.4(LRSAM1):c.2111G>A (p.Arg704His)
|
rs140808447
|
0.00035
|
|
NM_001009944.3(PKD1):c.5783C>G (p.Pro1928Arg)
|
rs201991587
|
0.00035
|
|
NM_001035.3(RYR2):c.*399A>G
|
rs184537159
|
0.00035
|
|
NM_001040108.2(MLH3):c.3440A>T (p.Asn1147Ile)
|
rs142124529
|
0.00035
|
|
NM_001042517.2(DIAPH3):c.3125G>A (p.Arg1042His)
|
rs200189161
|
0.00035
|
|
NM_001048174.2(MUTYH):c.850-2A>G
|
rs77542170
|
0.00035
|
|
NM_001080414.4(CCDC88C):c.4375G>A (p.Asp1459Asn)
|
rs78570354
|
0.00035
|
|
NM_001080508.3(TBX18):c.574G>T (p.Val192Leu)
|
rs201041948
|
0.00035
|
|
NM_001080517.3(SETD5):c.2866A>T (p.Thr956Ser)
|
rs201868415
|
0.00035
|
|
NM_001083116.3(PRF1):c.1140G>A (p.Pro380=)
|
rs144926997
|
0.00035
|
|
NM_001083961.2(WDR62):c.2976G>A (p.Ser992=)
|
rs757294519
|
0.00035
|
|
NM_001110792.2(MECP2):c.312A>G (p.Gly104=)
|
rs140191561
|
0.00035
|
|
NM_001128840.3(CACNA1D):c.5296G>C (p.Ala1766Pro)
|
rs199874790
|
0.00035
|
|
NM_001164508.2(NEB):c.11078G>A (p.Arg3693His)
|
rs368915047
|
0.00035
|
|
NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu)
|
rs373946758
|
0.00035
|
|
NM_001164508.2(NEB):c.22370G>C (p.Ser7457Thr)
|
rs142454476
|
0.00035
|
|
NM_001164508.2(NEB):c.25463A>G (p.Lys8488Arg)
|
rs201714437
|
0.00035
|
|
NM_001171.6(ABCC6):c.2602G>A (p.Gly868Arg)
|
rs114349489
|
0.00035
|
|
NM_001184880.2(PCDH19):c.2617-7A>G
|
rs370859689
|
0.00035
|
|
NM_001193315.2(VIPAS39):c.558A>G (p.Glu186=)
|
rs148623263
|
0.00035
|
|
NM_001199107.2(TBC1D24):c.1570C>T (p.Arg524Trp)
|
rs78644690
|
0.00035
|
|
NM_001242957.3(MAK):c.1405G>A (p.Glu469Lys)
|
rs149006687
|
0.00035
|
|
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr)
|
rs200001206
|
0.00035
|
|
NM_001267550.2(TTN):c.63577C>T (p.Arg21193Cys)
|
rs376800688
|
0.00035
|
|
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg)
|
rs72648205
|
0.00035
|
|
NM_001267550.2(TTN):c.88090G>A (p.Gly29364Ser)
|
rs183013408
|
0.00035
|
|
NM_001267550.2(TTN):c.96016G>A (p.Val32006Met)
|
rs191786700
|
0.00035
|
|
NM_001277115.2(DNAH11):c.6274-5T>C
|
rs74365849
|
0.00035
|
|
NM_001286577.2(C2CD3):c.6833A>G (p.Asn2278Ser)
|
rs199993353
|
0.00035
|
|
NM_001289104.2(PRKCSH):c.751G>T (p.Ala251Ser)
|
rs147043213
|
0.00035
|
|
NM_001291303.3(FAT4):c.5367C>T (p.Ile1789=)
|
rs144922340
|
0.00035
|
|
NM_001291303.3(FAT4):c.5552C>T (p.Pro1851Leu)
|
rs138655912
|
0.00035
|
|
NM_001292063.2(OTOG):c.6092C>T (p.Thr2031Ile)
|
rs545321215
|
0.00035
|
|
NM_001330078.2(NRXN1):c.4392T>C (p.His1464=)
|
rs112536447
|
0.00035
|
|
NM_001330260.2(SCN8A):c.2670C>T (p.Ala890=)
|
rs374452942
|
0.00035
|
|
NM_001351132.2(PEX5):c.1707C>T (p.Leu569=)
|
rs151312595
|
0.00035
|
|
NM_001365276.2(TNXB):c.2927G>A (p.Arg976His)
|
rs200771983
|
0.00035
|
|
NM_001365276.2(TNXB):c.619G>A (p.Gly207Ser)
|
rs139154852
|
0.00035
|
|
NM_001365276.2(TNXB):c.8740G>A (p.Gly2914Ser)
|
rs200708257
|
0.00035
|
|
NM_001365276.2(TNXB):c.9617A>G (p.Gln3206Arg)
|
rs201902411
|
0.00035
|
|
NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=)
|
rs144941725
|
0.00035
|
|
NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp)
|
rs564040169
|
0.00035
|
|
NM_001374353.1(GLI2):c.305G>A (p.Arg102Gln)
|
rs148442092
|
0.00035
|
|
NM_001378452.1(ITPR1):c.7959C>T (p.Ile2653=)
|
rs371988852
|
0.00035
|
|
NM_001382273.1(TNK2):c.2140A>G (p.Ser714Gly)
|
rs139797100
|
0.00035
|
|
NM_001384140.1(PCDH15):c.4320G>A (p.Pro1440=)
|
rs12246234
|
0.00035
|
|
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=)
|
rs150237416
|
0.00035
|
|
NM_001845.6(COL4A1):c.2669C>T (p.Pro890Leu)
|
rs139859950
|
0.00035
|
|
NM_001875.5(CPS1):c.1918G>T (p.Ala640Ser)
|
rs142693704
|
0.00035
|
|
NM_002168.4(IDH2):c.673G>A (p.Asp225Asn)
|
rs142816010
|
0.00035
|
|
NM_002637.4(PHKA1):c.2179C>T (p.Arg727Trp)
|
rs151279562
|
0.00035
|
|
NM_003560.4(PLA2G6):c.91G>A (p.Asp31Asn)
|
rs150024227
|
0.00035
|
|
NM_004006.3(DMD):c.7321A>C (p.Thr2441Pro)
|
rs146817002
|
0.00035
|
|
NM_004006.3(DMD):c.9564-5A>G
|
rs201390145
|
0.00035
|
|
NM_004370.6(COL12A1):c.8639A>G (p.His2880Arg)
|
rs185171880
|
0.00035
|
|
NM_004560.4(ROR2):c.730C>T (p.Arg244Trp)
|
rs148340413
|
0.00035
|
|
NM_004656.4(BAP1):c.1035G>C (p.Gly345=)
|
rs369744075
|
0.00035
|
|
NM_005002.5(NDUFA9):c.809G>A (p.Arg270Gln)
|
rs200750609
|
0.00035
|
|
NM_005188.4(CBL):c.1942A>C (p.Ser648Arg)
|
rs143264567
|
0.00035
|
|
NM_005228.5(EGFR):c.769G>A (p.Glu257Lys)
|
rs138847501
|
0.00035
|
|
NM_005245.4(FAT1):c.10930G>A (p.Ala3644Thr)
|
rs199663111
|
0.00035
|
|
NM_005333.5(HCCS):c.521C>T (p.Ala174Val)
|
rs367601527
|
0.00035
|
|
NM_005529.7(HSPG2):c.8504C>A (p.Ser2835Tyr)
|
rs146505513
|
0.00035
|
|
NM_005751.5(AKAP9):c.3580G>A (p.Ala1194Thr)
|
rs139965373
|
0.00035
|
|
NM_006019.4(TCIRG1):c.1096C>T (p.Arg366Cys)
|
rs148619884
|
0.00035
|
|
NM_006118.4(HAX1):c.117_122dup (p.Glu40_Gly41dup)
|
rs781468690
|
0.00035
|
|
NM_006393.3(NEBL):c.2148+4T>C
|
rs193163659
|
0.00035
|
|
NM_007374.3(SIX6):c.637C>T (p.Pro213Ser)
|
rs201560655
|
0.00035
|
|
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr)
|
rs143142641
|
0.00035
|
|
NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser)
|
rs575642464
|
0.00035
|
|
NM_014141.6(CNTNAP2):c.1140T>A (p.Ala380=)
|
rs141439475
|
0.00035
|
|
NM_014290.3(TDRD7):c.2079+7C>T
|
rs201253435
|
0.00035
|
|
NM_014363.6(SACS):c.3144A>G (p.Val1048=)
|
rs3751369
|
0.00035
|
|
NM_014915.3(ANKRD26):c.2855A>C (p.Lys952Thr)
|
rs564448342
|
0.00035
|
|
NM_015102.5(NPHP4):c.3612G>A (p.Pro1204=)
|
rs374003717
|
0.00035
|
|
NM_015335.5(MED13L):c.3214G>A (p.Val1072Ile)
|
rs142907547
|
0.00035
|
|
NM_016955.4(SEPSECS):c.140A>G (p.Asp47Gly)
|
rs774829549
|
0.00035
|
|
NM_017433.5(MYO3A):c.1248A>G (p.Gln416=)
|
rs143749728
|
0.00035
|
|
NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn)
|
rs138000380
|
0.00035
|
|
NM_020433.5(JPH2):c.1015G>A (p.Gly339Ser)
|
rs368290474
|
0.00035
|
|
NM_020822.3(KCNT1):c.522G>A (p.Met174Ile)
|
rs147551342
|
0.00035
|
|
NM_022114.4(PRDM16):c.1093G>T (p.Ala365Ser)
|
rs200562747
|
0.00035
|
|
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys)
|
rs41281336
|
0.00035
|
|
NM_022437.3(ABCG8):c.729C>T (p.Leu243=)
|
rs145482605
|
0.00035
|
|
NM_024334.3(TMEM43):c.484G>A (p.Asp162Asn)
|
rs150425166
|
0.00035
|
|
NM_024422.6(DSC2):c.1775C>T (p.Ala592Val)
|
rs140232809
|
0.00035
|
|
NM_024989.4(PGAP1):c.2375A>G (p.Asn792Ser)
|
rs36086547
|
0.00035
|
|
NM_032119.4(ADGRV1):c.5295C>G (p.Phe1765Leu)
|
rs201388114
|
0.00035
|
|
NM_052813.5(CARD9):c.406C>T (p.Leu136=)
|
rs143393026
|
0.00035
|
|
NM_133497.4(KCNV2):c.645G>C (p.Lys215Asn)
|
rs201327014
|
0.00035
|
|
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr)
|
rs143979330
|
0.00035
|
|
NM_138694.4(PKHD1):c.3838C>T (p.Arg1280Cys)
|
rs144042993
|
0.00035
|
|
NM_139027.6(ADAMTS13):c.427A>G (p.Ile143Val)
|
rs145175796
|
0.00035
|
|
NM_139125.4(MASP1):c.910C>A (p.Leu304Ile)
|
rs145057248
|
0.00035
|
|
NM_178138.6(LHX3):c.964G>A (p.Ala322Thr)
|
rs201356862
|
0.00035
|
|
NM_194248.3(OTOF):c.2650G>A (p.Ala884Thr)
|
rs144594692
|
0.00035
|
|
NM_194248.3(OTOF):c.898-6C>G
|
rs199687628
|
0.00035
|
|
NM_194292.3(SASS6):c.1773-4T>G
|
rs372605834
|
0.00035
|
|
NM_198525.3(KIF7):c.3914G>A (p.Arg1305Gln)
|
rs138993311
|
0.00035
|
|
NM_201384.3(PLEC):c.10716C>T (p.Ile3572=)
|
rs34365303
|
0.00035
|
|
NM_201525.4(ADGRG1):c.1356G>A (p.Thr452=)
|
rs151020094
|
0.00035
|
|
NM_000038.6(APC):c.607C>G (p.Gln203Glu)
|
rs141576417
|
0.00034
|
|
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)
|
rs139552233
|
0.00034
|
|
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile)
|
rs369903995
|
0.00034
|
|
NM_000053.4(ATP7B):c.2448-11G>A
|
rs200450017
|
0.00034
|
|
NM_000057.4(BLM):c.1467G>A (p.Arg489=)
|
rs56257041
|
0.00034
|
|
NM_000059.4(BRCA2):c.322A>C (p.Asn108His)
|
rs80358567
|
0.00034
|
|
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg)
|
rs150226817
|
0.00034
|
|
NM_000070.3(CAPN3):c.246G>A (p.Pro82=)
|
rs146529432
|
0.00034
|
|
NM_000081.4(LYST):c.2946T>C (p.Tyr982=)
|
rs145892183
|
0.00034
|
|
NM_000093.5(COL5A1):c.598G>A (p.Asp200Asn)
|
rs142890619
|
0.00034
|
|
NM_000094.4(COL7A1):c.4585C>T (p.Arg1529Cys)
|
rs144557024
|
0.00034
|
|
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
|
rs201273753
|
0.00034
|
|
NM_000152.5(GAA):c.2331+84C>G
|
rs185905012
|
0.00034
|
|
NM_000178.4(GSS):c.631C>G (p.Gln211Glu)
|
rs370351723
|
0.00034
|
|
NM_000199.5(SGSH):c.144G>A (p.Pro48=)
|
rs145970971
|
0.00034
|
|
NM_000222.3(KIT):c.878A>G (p.Asn293Ser)
|
rs137909416
|
0.00034
|
|
NM_000243.3(MEFV):c.1344A>C (p.Ala448=)
|
rs143337771
|
0.00034
|
|
NM_000243.3(MEFV):c.2292G>T (p.Gly764=)
|
rs142352887
|
0.00034
|
|
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr)
|
rs63750365
|
0.00034
|
|
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=)
|
rs150291001
|
0.00034
|
|
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr)
|
rs141122361
|
0.00034
|
|
NM_000260.4(MYO7A):c.3415G>A (p.Gly1139Ser)
|
rs200840044
|
0.00034
|
|
NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser)
|
rs201251963
|
0.00034
|
|
NM_000260.4(MYO7A):c.5169-5G>A
|
rs727505232
|
0.00034
|
|
NM_000260.4(MYO7A):c.687C>T (p.Gly229=)
|
rs371142158
|
0.00034
|
|
NM_000271.5(NPC1):c.180G>T (p.Gln60His)
|
rs145666943
|
0.00034
|
|
NM_000271.5(NPC1):c.1937G>A (p.Arg646His)
|
rs112387560
|
0.00034
|
|
NM_000293.3(PHKB):c.3216G>A (p.Ala1072=)
|
rs137869198
|
0.00034
|
|
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg)
|
rs199473182
|
0.00034
|
|
NM_000350.3(ABCA4):c.4401C>T (p.Ser1467=)
|
rs188775667
|
0.00034
|
|
NM_000360.4(TH):c.1255G>A (p.Val419Met)
|
rs184106392
|
0.00034
|
|
NM_000384.3(APOB):c.11720A>G (p.Asp3907Gly)
|
rs61746686
|
0.00034
|
|
NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg)
|
rs149529997
|
0.00034
|
|
NM_000414.4(HSD17B4):c.1138A>G (p.Ile380Val)
|
rs137946207
|
0.00034
|
|
NM_000426.4(LAMA2):c.4926A>G (p.Thr1642=)
|
rs62421010
|
0.00034
|
|
NM_000441.1(SLC26A4):c.-60A>G
|
rs545973091
|
0.00034
|
|
NM_000466.3(PEX1):c.2584-9del
|
rs886062504
|
0.00034
|
|
NM_000466.3(PEX1):c.939T>C (p.His313=)
|
rs199647157
|
0.00034
|
|
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val)
|
rs1800091
|
0.00034
|
|
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)
|
rs1800103
|
0.00034
|
|
NM_000501.4(ELN):c.1358-199G>A
|
rs781963901
|
0.00034
|
|
NM_000501.4(ELN):c.647G>T (p.Gly216Val)
|
rs145612009
|
0.00034
|
|
NM_000540.3(RYR1):c.10938-9C>T
|
rs201976186
|
0.00034
|
|
NM_000543.5(SMPD1):c.337C>T (p.Arg113Cys)
|
rs140202512
|
0.00034
|
|
NM_000548.5(TSC2):c.681C>T (p.Cys227=)
|
rs45443205
|
0.00034
|
|
NM_000660.7(TGFB1):c.887G>A (p.Arg296Gln)
|
rs200164212
|
0.00034
|
|
NM_000784.4(CYP27A1):c.891G>T (p.Leu297=)
|
rs144455258
|
0.00034
|
|
NM_000787.4(DBH):c.1025-6T>A
|
rs199926239
|
0.00034
|
|
NM_001011658.4(TRAPPC2):c.-97G>A
|
rs746032983
|
0.00034
|
|
NM_001039141.3(TRIOBP):c.4783C>T (p.Arg1595Cys)
|
rs201117318
|
0.00034
|
|
NM_001040108.2(MLH3):c.1637G>T (p.Arg546Ile)
|
rs55725216
|
0.00034
|
|
NM_001042545.2(LTBP4):c.3338G>A (p.Arg1113His)
|
rs199887429
|
0.00034
|
|
NM_001077446.4(TSEN34):c.230G>C (p.Arg77Pro)
|
rs200004897
|
0.00034
|
|
NM_001114753.3(ENG):c.1447G>A (p.Val483Ile)
|
rs141330288
|
0.00034
|
|
NM_001114753.3(ENG):c.640G>A (p.Gly214Ser)
|
rs150932144
|
0.00034
|
|
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=)
|
rs201200430
|
0.00034
|
|
NM_001128840.3(CACNA1D):c.2250C>A (p.Ile750=)
|
rs41276445
|
0.00034
|
|
NM_001130004.2(ACTN1):c.580G>A (p.Gly194Arg)
|
rs145918825
|
0.00034
|
|
NM_001130987.2(DYSF):c.4597T>C (p.Tyr1533His)
|
rs150139276
|
0.00034
|
|
NM_001145809.2(MYH14):c.2233-13C>A
|
rs368249273
|
0.00034
|
|
NM_001160372.4(TRAPPC9):c.3356G>A (p.Arg1119Gln)
|
rs145503551
|
0.00034
|
|
NM_001194998.2(CEP152):c.2681C>T (p.Ser894Phe)
|
rs145138194
|
0.00034
|
|
NM_001244008.2(KIF1A):c.3468C>T (p.Ile1156=)
|
rs201981364
|
0.00034
|
|
NM_001257180.2(SLC20A2):c.846C>T (p.Asp282=)
|
rs116122164
|
0.00034
|
|
NM_001267550.2(TTN):c.14998C>T (p.Arg5000Cys)
|
rs369933152
|
0.00034
|
|
NM_001267550.2(TTN):c.16515T>C (p.Ser5505=)
|
rs201625116
|
0.00034
|
|
NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met)
|
rs199793620
|
0.00034
|
|
NM_001267550.2(TTN):c.28187C>T (p.Pro9396Leu)
|
rs373065549
|
0.00034
|
|
NM_001267550.2(TTN):c.36461C>G (p.Pro12154Arg)
|
rs371580084
|
0.00034
|
|
NM_001267550.2(TTN):c.49015C>T (p.Arg16339Trp)
|
rs201793958
|
0.00034
|
|
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys)
|
rs199615557
|
0.00034
|
|
NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly)
|
rs199512049
|
0.00034
|
|
NM_001267550.2(TTN):c.82684T>C (p.Tyr27562His)
|
rs376616067
|
0.00034
|
|
NM_001267550.2(TTN):c.99866-10C>T
|
rs773128928
|
0.00034
|
|
NM_001277115.2(DNAH11):c.1749T>A (p.Val583=)
|
rs368294823
|
0.00034
|
|
NM_001288705.3(CSF1R):c.1799C>T (p.Thr600Met)
|
rs200788902
|
0.00034
|
|
NM_001291303.3(FAT4):c.10570C>T (p.Arg3524Trp)
|
rs145569482
|
0.00034
|
|
NM_001291303.3(FAT4):c.5054G>A (p.Arg1685Gln)
|
rs376422522
|
0.00034
|
|
NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr)
|
rs138437526
|
0.00034
|
|
NM_001365088.1(SLC12A6):c.1250A>G (p.Asn417Ser)
|
rs199945338
|
0.00034
|
|
NM_001365276.2(TNXB):c.3149-3C>T
|
rs372556970
|
0.00034
|
|
NM_001367624.2(ZNF469):c.4952A>G (p.Gln1651Arg)
|
rs773925755
|
0.00034
|
|
NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn)
|
rs200648652
|
0.00034
|
|
NM_001377.3(DYNC2H1):c.8293T>G (p.Phe2765Val)
|
rs199503535
|
0.00034
|
|
NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile)
|
rs145475623
|
0.00034
|
|
NM_001378454.1(ALMS1):c.7820C>G (p.Ala2607Gly)
|
rs140223281
|
0.00034
|
|
NM_001378615.1(CC2D2A):c.1821T>C (p.Ile607=)
|
rs373296447
|
0.00034
|
|
NM_001378789.1(CERS3):c.1102G>A (p.Gly368Ser)
|
rs137899535
|
0.00034
|
|
NM_001378969.1(KCND3):c.641A>G (p.Lys214Arg)
|
rs142744204
|
0.00034
|
|
NM_001386795.1(DTNA):c.2039G>A (p.Arg680Gln)
|
rs138143719
|
0.00034
|
|
NM_001395413.1(POR):c.1095G>A (p.Thr365=)
|
rs150414675
|
0.00034
|
|
NM_001457.4(FLNB):c.6515G>A (p.Arg2172His)
|
rs139846706
|
0.00034
|
|
NM_001848.3(COL6A1):c.2187C>T (p.Asp729=)
|
rs369502543
|
0.00034
|
|
NM_002473.6(MYH9):c.4818G>A (p.Ser1606=)
|
rs202132383
|
0.00034
|
|
NM_002474.3(MYH11):c.472G>A (p.Ala158Thr)
|
rs375998236
|
0.00034
|
|
NM_002906.4(RDX):c.1345-7T>C
|
rs142161673
|
0.00034
|
|
NM_003282.4(TNNI2):c.387G>A (p.Ser129=)
|
rs139399106
|
0.00034
|
|
NM_003560.4(PLA2G6):c.1408A>G (p.Met470Val)
|
rs201801144
|
0.00034
|
|
NM_003611.3(OFD1):c.276T>C (p.Ser92=)
|
rs201675886
|
0.00034
|
|
NM_003673.4(TCAP):c.60C>G (p.Ala20=)
|
rs146502276
|
0.00034
|
|
NM_003722.5(TP63):c.678C>T (p.Arg226=)
|
rs61732782
|
0.00034
|
|
NM_003742.4(ABCB11):c.930C>T (p.Phe310=)
|
rs372382608
|
0.00034
|
|
NM_003977.4(AIP):c.517G>A (p.Glu173Lys)
|
rs138902236
|
0.00034
|
|
NM_003978.5(PSTPIP1):c.418-6C>A
|
rs200018722
|
0.00034
|
|
NM_004006.3(DMD):c.2539A>G (p.Thr847Ala)
|
rs138145424
|
0.00034
|
|
NM_004092.4(ECHS1):c.414C>T (p.Ala138=)
|
rs149399503
|
0.00034
|
|
NM_004092.4(ECHS1):c.519G>A (p.Ala173=)
|
rs140262395
|
0.00034
|
|
NM_004369.4(COL6A3):c.3088G>A (p.Val1030Met)
|
rs116238578
|
0.00034
|
|
NM_004415.4(DSP):c.2288A>G (p.Tyr763Cys)
|
rs113967308
|
0.00034
|
|
NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp)
|
rs147219158
|
0.00034
|
|
NM_004456.5(EZH2):c.657T>C (p.Pro219=)
|
rs148843424
|
0.00034
|
|
NM_004525.3(LRP2):c.11322G>A (p.Ser3774=)
|
rs141727314
|
0.00034
|
|
NM_004563.4(PCK2):c.802A>G (p.Ile268Val)
|
rs146890792
|
0.00034
|
|
NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys)
|
rs199761505
|
0.00034
|
|
NM_004994.3(MMP9):c.1591C>T (p.Leu531=)
|
rs141884644
|
0.00034
|
|
NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile)
|
rs137889316
|
0.00034
|
|
NM_005228.5(EGFR):c.3629C>T (p.Ala1210Val)
|
rs35918369
|
0.00034
|
|
NM_005546.4(ITK):c.138+13T>C
|
rs200603754
|
0.00034
|
|
NM_005609.4(PYGM):c.1160G>A (p.Arg387His)
|
rs200357590
|
0.00034
|
|
NM_005677.4(COLQ):c.561C>T (p.Ser187=)
|
rs149370622
|
0.00034
|
|
NM_005751.5(AKAP9):c.4163C>T (p.Ser1388Leu)
|
rs143565222
|
0.00034
|
|
NM_005876.5(SPEG):c.2053C>G (p.Arg685Gly)
|
rs767316023
|
0.00034
|
|
NM_005982.4(SIX1):c.402G>A (p.Lys134=)
|
rs151189392
|
0.00034
|
|
NM_006180.6(NTRK2):c.1195+9C>T
|
rs201773066
|
0.00034
|
|
NM_006206.6(PDGFRA):c.1285G>A (p.Gly429Arg)
|
rs150577828
|
0.00034
|
|
NM_006231.4(POLE):c.1534G>A (p.Ala512Thr)
|
rs113998091
|
0.00034
|
|
NM_006231.4(POLE):c.4246G>A (p.Ala1416Thr)
|
rs146711942
|
0.00034
|
|
NM_006265.3(RAD21):c.1352T>G (p.Leu451Arg)
|
rs144953114
|
0.00034
|
|
NM_006446.5(SLCO1B1):c.1331+9A>G
|
rs76647672
|
0.00034
|
|
NM_006767.4(LZTR1):c.2190C>T (p.Gly730=)
|
rs144092577
|
0.00034
|
|
NM_006790.3(MYOT):c.120T>A (p.Ile40=)
|
rs139254363
|
0.00034
|
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
|
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu)
|
rs55906931
|
0.00034
|
|
NM_007347.5(AP4E1):c.1852G>A (p.Val618Ile)
|
rs142215198
|
0.00034
|
|
NM_012463.4(ATP6V0A2):c.1458G>A (p.Ser486=)
|
rs146156426
|
0.00034
|
|
NM_013275.6(ANKRD11):c.1133A>G (p.Asn378Ser)
|
rs202203523
|
0.00034
|
|
NM_014208.3(DSPP):c.85G>A (p.Glu29Lys)
|
rs200641947
|
0.00034
|
|
NM_014244.5(ADAMTS2):c.3195C>T (p.Gly1065=)
|
rs778572930
|
0.00034
|
|
NM_014491.4(FOXP2):c.50A>T (p.Gln17Leu)
|
rs201649896
|
0.00034
|
|
NM_014714.4(IFT140):c.369+12C>T
|
rs192986766
|
0.00034
|
|
NM_014727.3(KMT2B):c.5723C>G (p.Ala1908Gly)
|
rs373355746
|
0.00034
|
|
NM_014780.5(CUL7):c.2682T>C (p.Ala894=)
|
rs138043979
|
0.00034
|
|
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu)
|
rs143661911
|
0.00034
|
|
NM_015102.5(NPHP4):c.2811C>T (p.Ser937=)
|
rs758757125
|
0.00034
|
|
NM_015141.4(GPD1L):c.520G>A (p.Glu174Lys)
|
rs112122950
|
0.00034
|
|
NM_015166.4(MLC1):c.561A>C (p.Glu187Asp)
|
rs148532625
|
0.00034
|
|
NM_015909.4(NBAS):c.5984G>A (p.Arg1995Gln)
|
rs140373332
|
0.00034
|
|
NM_016180.5(SLC45A2):c.1518C>T (p.Val506=)
|
rs150473213
|
0.00034
|
|
NM_016239.4(MYO15A):c.7069G>A (p.Gly2357Ser)
|
rs201540919
|
0.00034
|
|
NM_016343.4(CENPF):c.6668A>G (p.Gln2223Arg)
|
rs150277836
|
0.00034
|
|
NM_017654.4(SAMD9):c.1058C>T (p.Thr353Met)
|
rs138478808
|
0.00034
|
|
NM_017668.3(NDE1):c.948-9293G>A
|
rs374454501
|
0.00034
|
|
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=)
|
rs138330966
|
0.00034
|
|
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu)
|
rs41272437
|
0.00034
|
|
NM_018109.4(MTPAP):c.1607C>G (p.Pro536Arg)
|
rs147174746
|
0.00034
|
|
NM_018834.6(MATR3):c.1991A>C (p.Glu664Ala)
|
rs139589527
|
0.00034
|
|
NM_018942.3(HMX1):c.964G>C (p.Gly322Arg)
|
rs763505877
|
0.00034
|
|
NM_018965.4(TREM2):c.83C>T (p.Ala28Val)
|
rs2234252
|
0.00034
|
|
NM_020223.4(FAM20C):c.1152C>T (p.Ile384=)
|
rs373614292
|
0.00034
|
|
NM_020232.5(PSMG2):c.229+5G>A
|
rs373478831
|
0.00034
|
|
NM_020549.5(CHAT):c.2222G>A (p.Arg741Lys)
|
rs114719193
|
0.00034
|
|
NM_020821.3(VPS13C):c.10955G>A (p.Arg3652Gln)
|
rs146072191
|
0.00034
|
|
NM_021870.3(FGG):c.124G>A (p.Gly42Ser)
|
rs202132393
|
0.00034
|
|
NM_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu)
|
rs201756175
|
0.00034
|
|
NM_022124.6(CDH23):c.9617G>A (p.Arg3206His)
|
rs374156784
|
0.00034
|
|
NM_024009.3(GJB3):c.-4C>T
|
rs200902087
|
0.00034
|
|
NM_024408.4(NOTCH2):c.4973C>T (p.Thr1658Ile)
|
rs142462128
|
0.00034
|
|
NM_024426.6(WT1):c.662-6C>A
|
rs372418954
|
0.00034
|
|
NM_024747.6(HPS6):c.1060C>T (p.His354Tyr)
|
rs149692177
|
0.00034
|
|
NM_024753.5(TTC21B):c.3223G>C (p.Val1075Leu)
|
rs34925776
|
0.00034
|
|
NM_024757.5(EHMT1):c.1865A>G (p.Asn622Ser)
|
rs184814386
|
0.00034
|
|
NM_024757.5(EHMT1):c.271A>T (p.Ile91Leu)
|
rs144949902
|
0.00034
|
|
NM_024996.7(GFM1):c.2143A>G (p.Met715Val)
|
rs147620098
|
0.00034
|
|
NM_025074.7(FRAS1):c.4334C>T (p.Thr1445Ile)
|
rs200123789
|
0.00034
|
|
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)
|
rs28997571
|
0.00034
|
|
NM_032043.3(BRIP1):c.380-17T>A
|
rs200050729
|
0.00034
|
|
NM_032119.4(ADGRV1):c.14959G>A (p.Gly4987Arg)
|
rs190988309
|
0.00034
|
|
NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr)
|
rs201391886
|
0.00034
|
|
NM_032520.5(GNPTG):c.264C>T (p.Asn88=)
|
rs145313679
|
0.00034
|
|
NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys)
|
rs151282801
|
0.00034
|
|
NM_032620.4(GTPBP3):c.565C>T (p.Arg189Cys)
|
rs141865220
|
0.00034
|
|
NM_033028.5(BBS4):c.1414A>G (p.Met472Val)
|
rs2277596
|
0.00034
|
|
NM_052859.4(RFT1):c.1356C>T (p.Arg452=)
|
rs113829901
|
0.00034
|
|
NM_052989.3(IFT122):c.1553G>A (p.Arg518His)
|
rs138223055
|
0.00034
|
|
NM_080669.6(SLC46A1):c.1256A>G (p.Asn419Ser)
|
rs141992236
|
0.00034
|
|
NM_133379.5(TTN):c.15575G>A (p.Arg5192Lys)
|
rs62179016
|
0.00034
|
|
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys)
|
rs143820618
|
0.00034
|
|
NM_144991.3(TSPEAR):c.419C>A (p.Ala140Asp)
|
rs147904376
|
0.00034
|
|
NM_152564.5(VPS13B):c.10521C>T (p.Tyr3507=)
|
rs767239312
|
0.00034
|
|
NM_152564.5(VPS13B):c.10867+11A>G
|
rs376656751
|
0.00034
|
|
NM_152743.4(BRAT1):c.955G>A (p.Val319Ile)
|
rs140903769
|
0.00034
|
|
NM_153033.5(KCTD7):c.273C>T (p.Ser91=)
|
rs139585796
|
0.00034
|
|
NM_182943.3(PLOD2):c.2121+14T>C
|
rs376009508
|
0.00034
|
|
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala)
|
rs144797744
|
0.00034
|
|
NM_198525.3(KIF7):c.3021C>T (p.Ile1007=)
|
rs142488318
|
0.00034
|
|
NM_199242.3(UNC13D):c.444G>A (p.Gly148=)
|
rs373551579
|
0.00034
|
|
NM_201384.3(PLEC):c.6162C>T (p.His2054=)
|
rs563719398
|
0.00034
|
|
NM_201384.3(PLEC):c.8442C>T (p.Gly2814=)
|
rs186703073
|
0.00034
|
|
NM_203486.3(DLL3):c.677C>G (p.Pro226Arg)
|
rs145191532
|
0.00034
|
|
NM_212482.4(FN1):c.6047C>T (p.Pro2016Leu)
|
rs139452116
|
0.00034
|
|
NM_000059.4(BRCA2):c.10095_10096insT (p.Ser3366Ter)
|
rs730881599
|
0.00033
|
|
NM_000179.3(MSH6):c.1867C>G (p.Pro623Ala)
|
rs3136334
|
0.00033
|
|
NM_000251.3(MSH2):c.2154A>G (p.Gln718=)
|
rs63750810
|
0.00033
|
|
NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser)
|
rs188766510
|
0.00033
|
|
NM_000302.4(PLOD1):c.1428G>A (p.Lys476=)
|
rs139869965
|
0.00033
|
|
NM_000327.4(ROM1):c.339dup (p.Leu114fs)
|
rs71458427
|
0.00033
|
|
NM_000335.5(SCN5A):c.3259G>A (p.Ala1087Thr)
|
rs369704754
|
0.00033
|
|
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn)
|
rs118203493
|
0.00033
|
|
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=)
|
rs140609193
|
0.00033
|
|
NM_000424.4(KRT5):c.322G>A (p.Gly108Ser)
|
rs146022149
|
0.00033
|
|
NM_000447.3(PSEN2):c.690C>G (p.Ala230=)
|
rs145010538
|
0.00033
|
|
NM_000540.3(RYR1):c.1453A>G (p.Met485Val)
|
rs147723844
|
0.00033
|
|
NM_000548.5(TSC2):c.2743-3C>A
|
rs45517264
|
0.00033
|
|
NM_000639.3(FASLG):c.280T>G (p.Leu94Val)
|
rs56302117
|
0.00033
|
|
NM_000785.4(CYP27B1):c.1505A>G (p.Asn502Ser)
|
rs201629800
|
0.00033
|
|
NM_001008215.3(COA5):c.26C>T (p.Pro9Leu)
|
rs11537555
|
0.00033
|
|
NM_001061.7(TBXAS1):c.734A>G (p.Asn245Ser)
|
rs55856189
|
0.00033
|
|
NM_001080517.3(SETD5):c.2006G>C (p.Gly669Ala)
|
rs199595728
|
0.00033
|
|
NM_001084.5(PLOD3):c.1614C>T (p.Val538=)
|
rs148949172
|
0.00033
|
|
NM_001110556.2(FLNA):c.4179G>A (p.Glu1393=)
|
rs182074603
|
0.00033
|
|
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys)
|
rs121912712
|
0.00033
|
|
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln)
|
rs145272777
|
0.00033
|
|
NM_001145809.2(MYH14):c.1427G>A (p.Arg476His)
|
rs375694189
|
0.00033
|
|
NM_001161352.2(KCNMA1):c.1641C>T (p.Asp547=)
|
rs149647577
|
0.00033
|
|
NM_001164508.2(NEB):c.8125G>A (p.Val2709Ile)
|
rs368637389
|
0.00033
|
|
NM_001211.6(BUB1B):c.1371A>G (p.Gln457=)
|
rs141013408
|
0.00033
|
|
NM_001256715.2(DNAAF3):c.705C>G (p.Asp235Glu)
|
rs371668705
|
0.00033
|
|
NM_001267550.2(TTN):c.15986G>A (p.Gly5329Asp)
|
rs202234492
|
0.00033
|
|
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala)
|
rs200213832
|
0.00033
|
|
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly)
|
rs201057307
|
0.00033
|
|
NM_001288705.3(CSF1R):c.2746G>A (p.Glu916Lys)
|
rs142435467
|
0.00033
|
|
NM_001291303.3(FAT4):c.4432A>C (p.Ile1478Leu)
|
rs200565115
|
0.00033
|
|
NM_001291303.3(FAT4):c.5597C>T (p.Thr1866Met)
|
rs141773516
|
0.00033
|
|
NM_001292063.2(OTOG):c.1984C>T (p.Pro662Ser)
|
rs547173007
|
0.00033
|
|
NM_001292063.2(OTOG):c.7742C>T (p.Ala2581Val)
|
rs114417076
|
0.00033
|
|
NM_001367624.2(ZNF469):c.943G>A (p.Glu315Lys)
|
rs530720576
|
0.00033
|
|
NM_001374353.1(GLI2):c.2251C>T (p.Leu751=)
|
rs200831069
|
0.00033
|
|
NM_001378454.1(ALMS1):c.6950T>C (p.Leu2317Pro)
|
rs185469456
|
0.00033
|
|
NM_001999.4(FBN2):c.7205G>A (p.Arg2402His)
|
rs148014419
|
0.00033
|
|
NM_002076.4(GNS):c.4C>T (p.Arg2Trp)
|
rs200441930
|
0.00033
|
|
NM_002336.3(LRP6):c.3380A>G (p.Glu1127Gly)
|
rs560813860
|
0.00033
|
|
NM_002427.4(MMP13):c.509A>C (p.Lys170Thr)
|
rs145243532
|
0.00033
|
|
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile)
|
rs138059405
|
0.00033
|
|
NM_002485.5(NBN):c.425A>G (p.Asn142Ser)
|
rs769414
|
0.00033
|
|
NM_003334.4(UBA1):c.1486G>A (p.Glu496Lys)
|
rs140950898
|
0.00033
|
|
NM_003764.4(STX11):c.589G>A (p.Val197Met)
|
rs141499372
|
0.00033
|
|
NM_003906.5(MCM3AP):c.3735-3C>A
|
rs371194956
|
0.00033
|
|
NM_004369.4(COL6A3):c.9339G>A (p.Lys3113=)
|
rs113422196
|
0.00033
|
|
NM_004370.6(COL12A1):c.6752G>A (p.Arg2251His)
|
rs151324784
|
0.00033
|
|
NM_004924.6(ACTN4):c.2190+4C>T
|
rs201878895
|
0.00033
|
|
NM_004960.4(FUS):c.188A>G (p.Asn63Ser)
|
rs140883211
|
0.00033
|
|
NM_005045.4(RELN):c.877G>A (p.Asp293Asn)
|
rs200289289
|
0.00033
|
|
NM_005045.4(RELN):c.9825C>T (p.Ser3275=)
|
rs149713137
|
0.00033
|
|
NM_005219.5(DIAPH1):c.1784T>C (p.Ile595Thr)
|
rs374299911
|
0.00033
|
|
NM_005422.4(TECTA):c.1291A>T (p.Thr431Ser)
|
rs138843691
|
0.00033
|
|
NM_005548.3(KARS1):c.1485A>G (p.Ile495Met)
|
rs144274136
|
0.00033
|
|
NM_006086.4(TUBB3):c.507C>T (p.Val169=)
|
rs373718068
|
0.00033
|
|
NM_006302.3(MOGS):c.499A>C (p.Arg167=)
|
rs371747622
|
0.00033
|
|
NM_006514.4(SCN10A):c.281T>G (p.Val94Gly)
|
rs202143516
|
0.00033
|
|
NM_006514.4(SCN10A):c.472T>G (p.Tyr158Asp)
|
rs202192818
|
0.00033
|
|
NM_006514.4(SCN10A):c.905G>A (p.Arg302Gln)
|
rs201955990
|
0.00033
|
|
NM_006941.4(SOX10):c.753G>A (p.Ser251=)
|
rs376907937
|
0.00033
|
|
NM_007055.4(POLR3A):c.1729G>A (p.Glu577Lys)
|
rs151084236
|
0.00033
|
|
NM_013254.4(TBK1):c.964C>T (p.His322Tyr)
|
rs145905497
|
0.00033
|
|
NM_014141.6(CNTNAP2):c.3758T>C (p.Ile1253Thr)
|
rs767821521
|
0.00033
|
|
NM_014290.3(TDRD7):c.444C>T (p.Asn148=)
|
rs144510531
|
0.00033
|
|
NM_015166.4(MLC1):c.598-9C>T
|
rs200463656
|
0.00033
|
|
NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=)
|
rs141608712
|
0.00033
|
|
NM_016239.4(MYO15A):c.1196A>G (p.Tyr399Cys)
|
rs368682932
|
0.00033
|
|
NM_017433.5(MYO3A):c.3932C>G (p.Thr1311Ser)
|
rs146693681
|
0.00033
|
|
NM_017547.4(FOXRED1):c.754C>T (p.Arg252Cys)
|
rs146661281
|
0.00033
|
|
NM_017654.4(SAMD9):c.2845G>T (p.Ala949Ser)
|
rs151038564
|
0.00033
|
|
NM_017739.4(POMGNT1):c.549C>T (p.Phe183=)
|
rs140724142
|
0.00033
|
|
NM_020738.4(KIDINS220):c.355G>A (p.Val119Ile)
|
rs200899102
|
0.00033
|
|
NM_020928.2(ZSWIM6):c.82A>G (p.Ser28Gly)
|
rs1456197449
|
0.00033
|
|
NM_021830.5(TWNK):c.241C>G (p.Leu81Val)
|
rs145068570
|
0.00033
|
|
NM_021999.5(ITM2B):c.774T>C (p.Phe258=)
|
rs144217555
|
0.00033
|
|
NM_022132.5(MCCC2):c.738+9A>G
|
rs776559643
|
0.00033
|
|
NM_022436.3(ABCG5):c.442C>T (p.Leu148=)
|
rs143444046
|
0.00033
|
|
NM_024513.4(FYCO1):c.4321C>A (p.Pro1441Thr)
|
rs185127002
|
0.00033
|
|
NM_030777.4(SLC2A10):c.1289-6C>T
|
rs199967429
|
0.00033
|
|
NM_032119.4(ADGRV1):c.5387C>G (p.Ser1796Cys)
|
rs770897158
|
0.00033
|
|
NM_032409.3(PINK1):c.1728A>G (p.Ser576=)
|
rs149994404
|
0.00033
|
|
NM_032737.4(LMNB2):c.574G>T (p.Ala192Ser)
|
rs112419003
|
0.00033
|
|
NM_138694.4(PKHD1):c.5731C>T (p.Arg1911Cys)
|
rs149553146
|
0.00033
|
|
NM_139057.4(ADAMTS17):c.1353G>A (p.Thr451=)
|
rs143896591
|
0.00033
|
|
NM_153006.3(NAGS):c.246G>A (p.Pro82=)
|
rs747154237
|
0.00033
|
|
NM_153717.3(EVC):c.2132A>G (p.Glu711Gly)
|
rs373726507
|
0.00033
|
|
NM_170665.4(ATP2A2):c.3064A>G (p.Ile1022Val)
|
rs140234740
|
0.00033
|
|
NM_170699.3(GPBAR1):c.562G>A (p.Val188Met)
|
rs199637113
|
0.00033
|
|
NM_177402.5(SYT2):c.71T>C (p.Ile24Thr)
|
rs199582045
|
0.00033
|
|
NM_201384.3(PLEC):c.7584G>A (p.Gln2528=)
|
rs372858742
|
0.00033
|
|
NM_201384.3(PLEC):c.8315G>A (p.Arg2772His)
|
rs201916690
|
0.00033
|
|
NM_201525.4(ADGRG1):c.14C>T (p.Ser5Leu)
|
rs147879224
|
0.00033
|
|
NM_206933.4(USH2A):c.1784T>C (p.Phe595Ser)
|
rs200496467
|
0.00033
|
|
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile)
|
rs140487302
|
0.00033
|
|
NM_000035.4(ALDOB):c.681C>T (p.Thr227=)
|
rs61757689
|
0.00032
|
|
NM_000038.6(APC):c.2232T>G (p.Ser744=)
|
rs145751759
|
0.00032
|
|
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)
|
rs2229022
|
0.00032
|
|
NM_000057.4(BLM):c.3041A>G (p.His1014Arg)
|
rs145022945
|
0.00032
|
|
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro)
|
rs28897701
|
0.00032
|
|
NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn)
|
rs80359065
|
0.00032
|
|
NM_000069.3(CACNA1S):c.540T>C (p.Pro180=)
|
rs138245131
|
0.00032
|
|
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser)
|
rs145355907
|
0.00032
|
|
NM_000091.5(COL4A3):c.3270A>C (p.Pro1090=)
|
rs201989155
|
0.00032
|
|
NM_000145.4(FSHR):c.1330G>A (p.Ala444Thr)
|
rs202162496
|
0.00032
|
|
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val)
|
rs63750252
|
0.00032
|
|
NM_000199.5(SGSH):c.89-4G>A
|
rs375536965
|
0.00032
|
|
NM_000214.3(JAG1):c.2604T>C (p.Ser868=)
|
rs138189639
|
0.00032
|
|
NM_000243.3(MEFV):c.926C>T (p.Thr309Met)
|
rs104895155
|
0.00032
|
|
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=)
|
rs200852418
|
0.00032
|
|
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val)
|
rs199561332
|
0.00032
|
|
NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=)
|
rs377388669
|
0.00032
|
|
NM_000264.5(PTCH1):c.1913G>A (p.Arg638His)
|
rs145766839
|
0.00032
|
|
NM_000312.4(PROC):c.1299C>T (p.Gly433=)
|
rs151319700
|
0.00032
|
|
NM_000392.5(ABCC2):c.339G>A (p.Leu113=)
|
rs151304543
|
0.00032
|
|
NM_000410.4(HFE):c.68G>A (p.Arg23His)
|
rs148161858
|
0.00032
|
|
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu)
|
rs137854861
|
0.00032
|
|
NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly)
|
rs182452430
|
0.00032
|
|
NM_000481.4(AMT):c.101G>A (p.Arg34His)
|
rs138259479
|
0.00032
|
|
NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg)
|
rs200588235
|
0.00032
|
|
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala)
|
rs184769423
|
0.00032
|
|
NM_001103.4(ACTN2):c.2601C>T (p.Pro867=)
|
rs147245615
|
0.00032
|
|
NM_001110219.3(GJB6):c.212T>C (p.Val71Ala)
|
rs200172266
|
0.00032
|
|
NM_001110556.2(FLNA):c.65A>G (p.Asp22Gly)
|
rs782598729
|
0.00032
|
|
NM_001127178.3(PIGG):c.2053G>A (p.Gly685Ser)
|
rs200770933
|
0.00032
|
|
NM_001127453.2(GSDME):c.712C>T (p.Arg238Ter)
|
rs200758965
|
0.00032
|
|
NM_001134831.2(AHI1):c.1829G>A (p.Arg610Gln)
|
rs374009466
|
0.00032
|
|
NM_001161352.2(KCNMA1):c.2267-4486C>T
|
rs188354139
|
0.00032
|
|
NM_001164508.2(NEB):c.6278T>C (p.Val2093Ala)
|
rs147476634
|
0.00032
|
|
NM_001182.5(ALDH7A1):c.203C>A (p.Thr68Asn)
|
rs58528748
|
0.00032
|
|
NM_001191061.2(SLC25A22):c.413-8G>C
|
rs376015598
|
0.00032
|
|
NM_001256545.2(MEGF10):c.1841-5T>C
|
rs372378202
|
0.00032
|
|
NM_001256789.3(CACNA1F):c.904C>T (p.Arg302Cys)
|
rs139612152
|
0.00032
|
|
NM_001267550.2(TTN):c.107753G>A (p.Cys35918Tyr)
|
rs193212275
|
0.00032
|
|
NM_001267550.2(TTN):c.156C>T (p.Pro52=)
|
rs72647842
|
0.00032
|
|
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met)
|
rs72648990
|
0.00032
|
|
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=)
|
rs184863287
|
0.00032
|
|
NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala)
|
rs201381085
|
0.00032
|
|
NM_001267550.2(TTN):c.72723C>G (p.Val24241=)
|
rs372701206
|
0.00032
|
|
NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser)
|
rs369941201
|
0.00032
|
|
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val)
|
rs201490050
|
0.00032
|
|
NM_001277115.2(DNAH11):c.5266A>G (p.Ile1756Val)
|
rs201257328
|
0.00032
|
|
NM_001360.3(DHCR7):c.927C>A (p.Gly309=)
|
rs149974099
|
0.00032
|
|
NM_001365536.1(SCN9A):c.2964C>T (p.Leu988=)
|
rs201430964
|
0.00032
|
|
NM_001365999.1(SZT2):c.2025G>A (p.Pro675=)
|
rs561698107
|
0.00032
|
|
NM_001367624.2(ZNF469):c.216G>T (p.Glu72Asp)
|
rs543285355
|
0.00032
|
|
NM_001367624.2(ZNF469):c.7265C>A (p.Ser2422Tyr)
|
rs201540905
|
0.00032
|
|
NM_001367624.2(ZNF469):c.7321C>T (p.Pro2441Ser)
|
rs546137802
|
0.00032
|
|
NM_001369.3(DNAH5):c.7892C>T (p.Thr2631Met)
|
rs375200875
|
0.00032
|
|
NM_001374385.1(ATP8B1):c.1438C>T (p.Arg480Trp)
|
rs142231389
|
0.00032
|
|
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly)
|
rs184779459
|
0.00032
|
|
NM_001378454.1(ALMS1):c.11939C>T (p.Thr3980Ile)
|
rs200568988
|
0.00032
|
|
NM_001378454.1(ALMS1):c.8453C>T (p.Thr2818Ile)
|
rs373211307
|
0.00032
|
|
NM_001386125.1(OBSCN):c.19850C>T (p.Ala6617Val)
|
rs191098985
|
0.00032
|
|
NM_001457.4(FLNB):c.4061+4G>A
|
rs370061963
|
0.00032
|
|
NM_001457.4(FLNB):c.5134G>A (p.Val1712Met)
|
rs138141099
|
0.00032
|
|
NM_001735.3(C5):c.754G>A (p.Ala252Thr)
|
rs112959008
|
0.00032
|
|
NM_001848.3(COL6A1):c.666C>T (p.Arg222=)
|
rs372581026
|
0.00032
|
|
NM_001849.4(COL6A2):c.*4C>T
|
rs370155138
|
0.00032
|
|
NM_001849.4(COL6A2):c.225G>T (p.Pro75=)
|
rs143678454
|
0.00032
|
|
NM_001943.5(DSG2):c.2192A>C (p.Gln731Pro)
|
rs202063433
|
0.00032
|
|
NM_002335.4(LRP5):c.3403C>T (p.Arg1135Cys)
|
rs143396225
|
0.00032
|
|
NM_002471.4(MYH6):c.3230A>T (p.Gln1077Leu)
|
rs377716628
|
0.00032
|
|
NM_002473.6(MYH9):c.1491C>T (p.Ile497=)
|
rs146487404
|
0.00032
|
|
NM_002473.6(MYH9):c.3943-7C>A
|
rs376396278
|
0.00032
|
|
NM_002473.6(MYH9):c.4831G>A (p.Ala1611Thr)
|
rs150029980
|
0.00032
|
|
NM_002693.3(POLG):c.2071-14T>G
|
rs150088708
|
0.00032
|
|
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val)
|
rs551708243
|
0.00032
|
|
NM_002693.3(POLG):c.3652C>T (p.Leu1218=)
|
rs146301349
|
0.00032
|
|
NM_003126.4(SPTA1):c.1688G>A (p.Arg563Gln)
|
rs202243588
|
0.00032
|
|
NM_003242.6(TGFBR2):c.1525-7G>A
|
rs377499122
|
0.00032
|
|
NM_003361.4(UMOD):c.184A>C (p.Thr62Pro)
|
rs143248111
|
0.00032
|
|
NM_003664.5(AP3B1):c.2188C>T (p.Arg730Trp)
|
rs141102178
|
0.00032
|
|
NM_003742.4(ABCB11):c.1254T>C (p.Gly418=)
|
rs140138979
|
0.00032
|
|
NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys)
|
rs727503828
|
0.00032
|
|
NM_004006.3(DMD):c.8767G>T (p.Ala2923Ser)
|
rs116283249
|
0.00032
|
|
NM_004371.4(COPA):c.2531G>A (p.Gly844Asp)
|
rs143115096
|
0.00032
|
|
NM_004385.5(VCAN):c.3957C>A (p.His1319Gln)
|
rs143393049
|
0.00032
|
|
NM_004456.5(EZH2):c.965A>G (p.Asn322Ser)
|
rs151023145
|
0.00032
|
|
NM_004982.4(KCNJ8):c.1036G>A (p.Val346Ile)
|
rs147316959
|
0.00032
|
|
NM_005045.4(RELN):c.5095G>A (p.Glu1699Lys)
|
rs147657490
|
0.00032
|
|
NM_005422.4(TECTA):c.5836T>C (p.Tyr1946His)
|
rs144343770
|
0.00032
|
|
NM_005445.4(SMC3):c.3259G>A (p.Val1087Ile)
|
rs147743879
|
0.00032
|
|
NM_005502.4(ABCA1):c.5039G>A (p.Arg1680Gln)
|
rs150125857
|
0.00032
|
|
NM_005535.3(IL12RB1):c.930G>A (p.Ser310=)
|
rs144647048
|
0.00032
|
|
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys)
|
rs104895016
|
0.00032
|
|
NM_005629.4(SLC6A8):c.1162G>A (p.Ala388Thr)
|
rs374163604
|
0.00032
|
|
NM_005629.4(SLC6A8):c.544G>A (p.Val182Met)
|
rs149024147
|
0.00032
|
|
NM_005732.4(RAD50):c.2647C>T (p.Arg883Cys)
|
rs138749920
|
0.00032
|
|
NM_006005.3(WFS1):c.647C>G (p.Pro216Arg)
|
rs141233896
|
0.00032
|
|
NM_006031.6(PCNT):c.7118G>A (p.Gly2373Glu)
|
rs147670568
|
0.00032
|
|
NM_006383.4(CIB2):c.311G>A (p.Arg104Gln)
|
rs200697103
|
0.00032
|
|
NM_006514.4(SCN10A):c.1858G>A (p.Val620Ile)
|
rs151303346
|
0.00032
|
|
NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu)
|
rs145061343
|
0.00032
|
|
NM_006922.4(SCN3A):c.5889T>C (p.Ser1963=)
|
rs146624492
|
0.00032
|
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
|
NM_012144.4(DNAI1):c.551A>G (p.Lys184Arg)
|
rs146203427
|
0.00032
|
|
NM_012179.4(FBXO7):c.277T>G (p.Ser93Ala)
|
rs143041875
|
0.00032
|
|
NM_014324.6(AMACR):c.247+8C>G
|
rs779779299
|
0.00032
|
|
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr)
|
rs190617851
|
0.00032
|
|
NM_014363.6(SACS):c.5583G>C (p.Trp1861Cys)
|
rs140678034
|
0.00032
|
|
NM_014363.6(SACS):c.7725A>T (p.Ile2575=)
|
rs200735789
|
0.00032
|
|
NM_014425.5(INVS):c.118C>G (p.Leu40Val)
|
rs148219510
|
0.00032
|
|
NM_014425.5(INVS):c.2278T>G (p.Ser760Ala)
|
rs146901872
|
0.00032
|
|
NM_014844.5(TECPR2):c.1546G>A (p.Val516Met)
|
rs141697267
|
0.00032
|
|
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr)
|
rs144860227
|
0.00032
|
|
NM_016222.4(DDX41):c.6G>T (p.Glu2Asp)
|
rs138435584
|
0.00032
|
|
NM_016239.4(MYO15A):c.730G>A (p.Asp244Asn)
|
rs199899548
|
0.00032
|
|
NM_016239.4(MYO15A):c.9160C>G (p.Pro3054Ala)
|
rs368760461
|
0.00032
|
|
NM_016247.4(IMPG2):c.1223C>T (p.Thr408Met)
|
rs148056371
|
0.00032
|
|
NM_016343.4(CENPF):c.2595A>C (p.Glu865Asp)
|
rs142993088
|
0.00032
|
|
NM_018292.5(QRSL1):c.850-5A>G
|
rs201614446
|
0.00032
|
|
NM_018979.4(WNK1):c.5741T>C (p.Ile1914Thr)
|
rs184764148
|
0.00032
|
|
NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp)
|
rs150036969
|
0.00032
|
|
NM_020312.4(COQ9):c.756C>G (p.Asn252Lys)
|
rs142223672
|
0.00032
|
|
NM_020708.5(SLC12A5):c.2376T>C (p.Ile792=)
|
rs201525976
|
0.00032
|
|
NM_020754.4(ARHGAP31):c.2312T>C (p.Val771Ala)
|
rs374149626
|
0.00032
|
|
NM_021072.4(HCN1):c.240C>A (p.Gly80=)
|
rs373664268
|
0.00032
|
|
NM_021098.3(CACNA1H):c.1844C>T (p.Thr615Met)
|
rs368976749
|
0.00032
|
|
NM_021098.3(CACNA1H):c.3555G>A (p.Ala1185=)
|
rs370039255
|
0.00032
|
|
NM_024592.5(SRD5A3):c.51G>T (p.Ala17=)
|
rs201123766
|
0.00032
|
|
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro)
|
rs36111204
|
0.00032
|
|
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn)
|
rs199747962
|
0.00032
|
|
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser)
|
rs191613017
|
0.00032
|
|
NM_025137.4(SPG11):c.257+13G>A
|
rs201936649
|
0.00032
|
|
NM_025137.4(SPG11):c.257+15A>C
|
rs538988623
|
0.00032
|
|
NM_030665.4(RAI1):c.4652C>T (p.Ser1551Leu)
|
rs202158738
|
0.00032
|
|
NM_032119.4(ADGRV1):c.12207C>T (p.Thr4069=)
|
rs202066007
|
0.00032
|
|
NM_032380.5(GFM2):c.2213G>A (p.Gly738Asp)
|
rs139901493
|
0.00032
|
|
NM_032620.4(GTPBP3):c.592-5G>T
|
rs201374694
|
0.00032
|
|
NM_032634.4(PIGO):c.969T>G (p.Leu323=)
|
rs142658052
|
0.00032
|
|
NM_033419.5(PGAP3):c.200A>G (p.Asp67Gly)
|
rs141817321
|
0.00032
|
|
NM_052989.3(IFT122):c.2643C>T (p.Ala881=)
|
rs150055466
|
0.00032
|
|
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp)
|
rs368822172
|
0.00032
|
|
NM_053025.4(MYLK):c.5302A>G (p.Ser1768Gly)
|
rs149866482
|
0.00032
|
|
NM_138694.4(PKHD1):c.2825G>C (p.Gly942Ala)
|
rs142205860
|
0.00032
|
|
NM_152564.5(VPS13B):c.1041A>G (p.Ser347=)
|
rs149176010
|
0.00032
|
|
NM_153033.5(KCTD7):c.387C>T (p.Ala129=)
|
rs140932942
|
0.00032
|
|
NM_173354.5(SIK1):c.2159C>T (p.Pro720Leu)
|
rs547049916
|
0.00032
|
|
NM_181426.2(CCDC39):c.2057A>G (p.Asn686Ser)
|
rs201586263
|
0.00032
|
|
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser)
|
rs147143947
|
0.00032
|
|
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln)
|
rs141586001
|
0.00032
|
|
NM_198239.2(CCN6):c.219A>T (p.Gly73=)
|
rs139375158
|
0.00032
|
|
NM_198525.3(KIF7):c.516G>A (p.Glu172=)
|
rs199959946
|
0.00032
|
|
NM_198576.4(AGRN):c.1198C>T (p.Arg400Trp)
|
rs149636063
|
0.00032
|
|
NM_201384.3(PLEC):c.10105G>T (p.Val3369Leu)
|
rs201373953
|
0.00032
|
|
NM_201384.3(PLEC):c.5930C>T (p.Ala1977Val)
|
rs398123401
|
0.00032
|
|
NM_201384.3(PLEC):c.6495G>A (p.Ala2165=)
|
rs201462310
|
0.00032
|
|
NM_206937.2(LIG4):c.1983T>C (p.Asp661=)
|
rs199638675
|
0.00032
|
|
NM_000016.6(ACADM):c.1091T>C (p.Ile364Thr)
|
rs150710061
|
0.00031
|
|
NM_000020.3(ACVRL1):c.1348A>G (p.Thr450Ala)
|
rs146206499
|
0.00031
|
|
NM_000032.5(ALAS2):c.1244C>T (p.Ala415Val)
|
rs143328343
|
0.00031
|
|
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu)
|
rs141010008
|
0.00031
|
|
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser)
|
rs199915459
|
0.00031
|
|
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr)
|
rs1801256
|
0.00031
|
|
NM_000069.3(CACNA1S):c.2957G>A (p.Arg986His)
|
rs140453525
|
0.00031
|
|
NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr)
|
rs138867099
|
0.00031
|
|
NM_000081.4(LYST):c.2313G>A (p.Gln771=)
|
rs147220685
|
0.00031
|
|
NM_000081.4(LYST):c.6782G>A (p.Arg2261His)
|
rs147791378
|
0.00031
|
|
NM_000083.3(CLCN1):c.2219C>G (p.Ser740Cys)
|
rs139262486
|
0.00031
|
|
NM_000085.5(CLCNKB):c.172G>T (p.Val58Leu)
|
rs144043939
|
0.00031
|
|
NM_000088.4(COL1A1):c.2467C>G (p.Pro823Ala)
|
rs1800214
|
0.00031
|
|
NM_000093.5(COL5A1):c.367C>G (p.Gln123Glu)
|
rs142114921
|
0.00031
|
|
NM_000094.4(COL7A1):c.2792G>A (p.Arg931His)
|
rs146934952
|
0.00031
|
|
NM_000142.5(FGFR3):c.2396C>T (p.Pro799Leu)
|
rs150452037
|
0.00031
|
|
NM_000180.4(GUCY2D):c.921C>T (p.Ala307=)
|
rs148136213
|
0.00031
|
|
NM_000186.4(CFH):c.2957-7A>G
|
rs190778135
|
0.00031
|
|
NM_000214.3(JAG1):c.82G>C (p.Val28Leu)
|
rs142855305
|
0.00031
|
|
NM_000233.4(LHCGR):c.161+9A>G
|
rs573699597
|
0.00031
|
|
NM_000251.3(MSH2):c.435T>G (p.Ile145Met)
|
rs63750124
|
0.00031
|
|
NM_000260.4(MYO7A):c.448C>A (p.Arg150=)
|
rs121965079
|
0.00031
|
|
NM_000317.3(PTS):c.17G>T (p.Gly6Val)
|
rs138154701
|
0.00031
|
|
NM_000350.3(ABCA4):c.2383-12G>A
|
rs368548294
|
0.00031
|
|
NM_000383.4(AIRE):c.1303G>A (p.Gly435Arg)
|
rs373993732
|
0.00031
|
|
NM_000419.5(ITGA2B):c.1821G>A (p.Thr607=)
|
rs139878415
|
0.00031
|
|
NM_000426.4(LAMA2):c.3582T>C (p.Ile1194=)
|
rs137962409
|
0.00031
|
|
NM_000435.3(NOTCH3):c.6632A>G (p.Tyr2211Cys)
|
rs369813654
|
0.00031
|
|
NM_000481.4(AMT):c.825T>A (p.Asn275Lys)
|
rs144241950
|
0.00031
|
|
NM_000492.4(CFTR):c.2079T>G (p.Phe693Leu)
|
rs145540754
|
0.00031
|
|
NM_000501.4(ELN):c.1999C>T (p.Pro667Ser)
|
rs142316834
|
0.00031
|
|
NM_000506.5(F2):c.234G>A (p.Thr78=)
|
rs151121282
|
0.00031
|
|
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr)
|
rs374524755
|
0.00031
|
|
NM_000521.4(HEXB):c.918G>C (p.Leu306=)
|
rs140607282
|
0.00031
|
|
NM_000532.5(PCCB):c.180G>A (p.Lys60=)
|
rs140636870
|
0.00031
|
|
NM_000540.3(RYR1):c.13547A>G (p.Glu4516Gly)
|
rs149984626
|
0.00031
|
|
NM_000540.3(RYR1):c.5317C>T (p.Pro1773Ser)
|
rs192863857
|
0.00031
|
|
NM_000540.3(RYR1):c.7876C>T (p.Leu2626=)
|
rs145446438
|
0.00031
|
|
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met)
|
rs45517294
|
0.00031
|
|
NM_000551.3(VHL):c.-73C>T
|
rs1034934219
|
0.00031
|
|
NM_000553.6(WRN):c.130C>G (p.Leu44Val)
|
rs139775895
|
0.00031
|
|
NM_000642.3(AGL):c.1333A>G (p.Met445Val)
|
rs140375476
|
0.00031
|
|
NM_000719.7(CACNA1C):c.4641C>T (p.Asn1547=)
|
rs202194703
|
0.00031
|
|
NM_000843.4(GRM6):c.2257G>A (p.Gly753Ser)
|
rs79602188
|
0.00031
|
|
NM_001003722.2(GLE1):c.1641T>C (p.Tyr547=)
|
rs77053118
|
0.00031
|
|
NM_001013693.3(LDLRAD2):c.*1278C>T
|
rs376645617
|
0.00031
|
|
NM_001035.3(RYR2):c.774-14G>T
|
rs370114411
|
0.00031
|
|
NM_001039141.3(TRIOBP):c.6556G>A (p.Gly2186Ser)
|
rs191901426
|
0.00031
|
|
NM_001039213.4(CEACAM16):c.1125G>A (p.Ala375=)
|
rs373050209
|
0.00031
|
|
NM_001039213.4(CEACAM16):c.589G>A (p.Gly197Ser)
|
rs367891074
|
0.00031
|
|
NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val)
|
rs146315101
|
0.00031
|
|
NM_001042517.2(DIAPH3):c.3352C>T (p.Arg1118Cys)
|
rs76626460
|
0.00031
|
|
NM_001048174.2(MUTYH):c.1392+2C>T
|
rs140288388
|
0.00031
|
|
NM_001077350.3(NPRL3):c.1268C>T (p.Pro423Leu)
|
rs200792895
|
0.00031
|
|
NM_001077365.2(POMT1):c.855+6T>C
|
rs200692465
|
0.00031
|
|
NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu)
|
rs144626884
|
0.00031
|
|
NM_001083961.2(WDR62):c.203T>C (p.Ile68Thr)
|
rs148615988
|
0.00031
|
|
NM_001083961.2(WDR62):c.2211-8C>T
|
rs369077520
|
0.00031
|
|
NM_001110219.3(GJB6):c.177A>G (p.Gly59=)
|
rs371123633
|
0.00031
|
|
NM_001110556.2(FLNA):c.1691+7C>A
|
rs199565118
|
0.00031
|
|
NM_001127208.3(TET2):c.3409+15T>A
|
rs192879693
|
0.00031
|
|
NM_001127453.2(GSDME):c.1118G>A (p.Gly373Asp)
|
rs146399987
|
0.00031
|
|
NM_001134363.3(RBM20):c.1057G>A (p.Glu353Lys)
|
rs554690506
|
0.00031
|
|
NM_001134363.3(RBM20):c.3648C>T (p.Ser1216=)
|
rs554167951
|
0.00031
|
|
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser)
|
rs201148693
|
0.00031
|
|
NM_001136472.2(LITAF):c.44C>T (p.Ser15Leu)
|
rs138041990
|
0.00031
|
|
NM_001161352.2(KCNMA1):c.3148-8T>C
|
rs79155047
|
0.00031
|
|
NM_001164508.2(NEB):c.6817A>G (p.Lys2273Glu)
|
rs199700878
|
0.00031
|
|
NM_001199107.2(TBC1D24):c.179G>A (p.Arg60Gln)
|
rs200226466
|
0.00031
|
|
NM_001232.4(CASQ2):c.1131A>T (p.Glu377Asp)
|
rs148824162
|
0.00031
|
|
NM_001243133.2(NLRP3):c.208G>A (p.Val70Met)
|
rs117287351
|
0.00031
|
|
NM_001243279.3(ACSF3):c.43G>A (p.Ala15Thr)
|
rs375374971
|
0.00031
|
|
NM_001252024.2(TRPM1):c.2701-10T>A
|
rs201747375
|
0.00031
|
|
NM_001267550.2(TTN):c.104277G>A (p.Lys34759=)
|
rs377391143
|
0.00031
|
|
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile)
|
rs146000949
|
0.00031
|
|
NM_001267550.2(TTN):c.26019C>T (p.His8673=)
|
rs370266918
|
0.00031
|
|
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr)
|
rs181189778
|
0.00031
|
|
NM_001267550.2(TTN):c.52927C>T (p.Arg17643Trp)
|
rs375944265
|
0.00031
|
|
NM_001267550.2(TTN):c.63273T>C (p.Asp21091=)
|
rs374168580
|
0.00031
|
|
NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln)
|
rs185620750
|
0.00031
|
|
NM_001267550.2(TTN):c.70491C>T (p.Thr23497=)
|
rs372382315
|
0.00031
|
|
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=)
|
rs139953862
|
0.00031
|
|
NM_001267550.2(TTN):c.84640A>G (p.Met28214Val)
|
rs72648221
|
0.00031
|
|
NM_001267550.2(TTN):c.86526T>G (p.Val28842=)
|
rs72648226
|
0.00031
|
|
NM_001267550.2(TTN):c.93215G>A (p.Arg31072His)
|
rs141817409
|
0.00031
|
|
NM_001267550.2(TTN):c.93524G>A (p.Arg31175His)
|
rs72648251
|
0.00031
|
|
NM_001267550.2(TTN):c.9487C>T (p.Arg3163Cys)
|
rs140664731
|
0.00031
|
|
NM_001276345.2(TNNT2):c.720-13_720-11del
|
rs397516480
|
0.00031
|
|
NM_001277115.2(DNAH11):c.5132A>G (p.Gln1711Arg)
|
rs189432084
|
0.00031
|
|
NM_001286445.3(RIPOR2):c.2620G>A (p.Gly874Ser)
|
rs140410062
|
0.00031
|
|
NM_001288705.3(CSF1R):c.1420G>A (p.Val474Ile)
|
rs191994354
|
0.00031
|
|
NM_001346754.2(PIGW):c.106A>G (p.Arg36Gly)
|
rs142067039
|
0.00031
|
|
NM_001360.3(DHCR7):c.126C>T (p.Ser42=)
|
rs150928869
|
0.00031
|
|
NM_001363711.2(DUOX2):c.4027C>T (p.Leu1343Phe)
|
rs147945181
|
0.00031
|
|
NM_001369.3(DNAH5):c.11570+8T>C
|
rs369789559
|
0.00031
|
|
NM_001369.3(DNAH5):c.9549G>A (p.Gln3183=)
|
rs147865593
|
0.00031
|
|
NM_001369.3(DNAH5):c.9995G>A (p.Arg3332Lys)
|
rs138968139
|
0.00031
|
|
NM_001378183.1(PIEZO2):c.4250A>G (p.Lys1417Arg)
|
rs749257673
|
0.00031
|
|
NM_001379081.2(FREM1):c.5854A>T (p.Ile1952Leu)
|
rs201002953
|
0.00031
|
|
NM_001457.4(FLNB):c.4903G>A (p.Gly1635Ser)
|
rs139046903
|
0.00031
|
|
NM_001457.4(FLNB):c.7041C>A (p.Phe2347Leu)
|
rs139325959
|
0.00031
|
|
NM_001457.4(FLNB):c.7254C>T (p.Ser2418=)
|
rs563382903
|
0.00031
|
|
NM_001458.5(FLNC):c.5954C>T (p.Ser1985Leu)
|
rs200415625
|
0.00031
|
|
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser)
|
rs145172612
|
0.00031
|
|
NM_001845.6(COL4A1):c.1735G>A (p.Val579Ile)
|
rs141527136
|
0.00031
|
|
NM_001848.3(COL6A1):c.1115A>G (p.Glu372Gly)
|
rs149338158
|
0.00031
|
|
NM_001848.3(COL6A1):c.531C>T (p.Asn177=)
|
rs767176038
|
0.00031
|
|
NM_001851.6(COL9A1):c.333C>T (p.Tyr111=)
|
rs141047907
|
0.00031
|
|
NM_001851.6(COL9A1):c.460G>C (p.Val154Leu)
|
rs138583508
|
0.00031
|
|
NM_001852.4(COL9A2):c.1162-3C>T
|
rs368209124
|
0.00031
|
|
NM_001853.4(COL9A3):c.779C>T (p.Ala260Val)
|
rs147134081
|
0.00031
|
|
NM_001854.4(COL11A1):c.2014G>A (p.Asp672Asn)
|
rs143663917
|
0.00031
|
|
NM_001987.5(ETV6):c.77G>C (p.Ser26Thr)
|
rs150858928
|
0.00031
|
|
NM_002163.4(IRF8):c.982T>G (p.Phe328Val)
|
rs202046728
|
0.00031
|
|
NM_002185.5(IL7R):c.1316C>G (p.Thr439Ser)
|
rs148931962
|
0.00031
|
|
NM_002292.4(LAMB2):c.2922G>C (p.Gly974=)
|
rs145465720
|
0.00031
|
|
NM_002303.6(LEPR):c.1713G>T (p.Gln571His)
|
rs141393785
|
0.00031
|
|
NM_002335.4(LRP5):c.1818G>A (p.Ala606=)
|
rs148603249
|
0.00031
|
|
NM_002474.3(MYH11):c.2893G>T (p.Ala965Ser)
|
rs113696032
|
0.00031
|
|
NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val)
|
rs142654744
|
0.00031
|
|
NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu)
|
rs148621523
|
0.00031
|
|
NM_002529.4(NTRK1):c.482G>A (p.Arg161His)
|
rs150271893
|
0.00031
|
|
NM_002599.5(PDE2A):c.939C>T (p.Ser313=)
|
rs141849669
|
0.00031
|
|
NM_003126.4(SPTA1):c.3839A>G (p.Asp1280Gly)
|
rs200890386
|
0.00031
|
|
NM_003331.5(TYK2):c.2985C>T (p.Ile995=)
|
rs147442318
|
0.00031
|
|
NM_003482.4(KMT2D):c.12889T>C (p.Ser4297Pro)
|
rs370243498
|
0.00031
|
|
NM_003482.4(KMT2D):c.5124A>G (p.Thr1708=)
|
rs374724784
|
0.00031
|
|
NM_003659.4(AGPS):c.214A>G (p.Thr72Ala)
|
rs560217758
|
0.00031
|
|
NM_003722.5(TP63):c.1827A>G (p.Glu609=)
|
rs147538847
|
0.00031
|
|
NM_003737.4(DCHS1):c.9269A>T (p.Tyr3090Phe)
|
rs201094018
|
0.00031
|
|
NM_003998.4(NFKB1):c.2831C>A (p.Thr944Asn)
|
rs143882681
|
0.00031
|
|
NM_004004.6(GJB2):c.499G>A (p.Val167Met)
|
rs111033360
|
0.00031
|
|
NM_004035.7(ACOX1):c.1418C>T (p.Thr473Ile)
|
rs200608977
|
0.00031
|
|
NM_004086.3(COCH):c.272G>A (p.Arg91Gln)
|
rs188283330
|
0.00031
|
|
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile)
|
rs200018416
|
0.00031
|
|
NM_004369.4(COL6A3):c.6654G>A (p.Pro2218=)
|
rs147537071
|
0.00031
|
|
NM_004369.4(COL6A3):c.776C>T (p.Ala259Val)
|
rs149924028
|
0.00031
|
|
NM_004370.6(COL12A1):c.922A>T (p.Ile308Phe)
|
rs116980451
|
0.00031
|
|
NM_004415.4(DSP):c.273+5G>A
|
rs200473206
|
0.00031
|
|
NM_004525.3(LRP2):c.1731G>A (p.Arg577=)
|
rs142698246
|
0.00031
|
|
NM_004655.4(AXIN2):c.1685C>T (p.Pro562Leu)
|
rs149764887
|
0.00031
|
|
NM_004970.3(IGFALS):c.634G>A (p.Ala212Thr)
|
rs368097770
|
0.00031
|
|
NM_005045.4(RELN):c.2446C>T (p.Leu816Phe)
|
rs144653976
|
0.00031
|
|
NM_005045.4(RELN):c.5225G>A (p.Arg1742Gln)
|
rs199553777
|
0.00031
|
|
NM_005068.3(SIM1):c.1569T>C (p.His523=)
|
rs138590764
|
0.00031
|
|
NM_005529.7(HSPG2):c.83C>T (p.Ala28Val)
|
rs754643779
|
0.00031
|
|
NM_005546.4(ITK):c.631G>C (p.Val211Leu)
|
rs142038079
|
0.00031
|
|
NM_006005.3(WFS1):c.799G>A (p.Asp267Asn)
|
rs145677667
|
0.00031
|
|
NM_006059.4(LAMC3):c.290A>G (p.Gln97Arg)
|
rs141758463
|
0.00031
|
|
NM_006182.4(DDR2):c.720C>T (p.Asp240=)
|
rs141801107
|
0.00031
|
|
NM_006514.4(SCN10A):c.179G>A (p.Cys60Tyr)
|
rs145900411
|
0.00031
|
|
NM_006516.4(SLC2A1):c.895G>A (p.Glu299Lys)
|
rs148518827
|
0.00031
|
|
NM_006946.4(SPTBN2):c.3800C>T (p.Ala1267Val)
|
rs148065361
|
0.00031
|
|
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys)
|
rs28897687
|
0.00031
|
|
NM_012301.4(MAGI2):c.2131C>A (p.Pro711Thr)
|
rs144078604
|
0.00031
|
|
NM_012434.5(SLC17A5):c.1059G>A (p.Arg353=)
|
rs149017456
|
0.00031
|
|
NM_014297.5(ETHE1):c.278C>T (p.Ser93Phe)
|
rs199827754
|
0.00031
|
|
NM_014363.6(SACS):c.10008A>G (p.Lys3336=)
|
rs148971954
|
0.00031
|
|
NM_014363.6(SACS):c.2580A>G (p.Gln860=)
|
rs41283958
|
0.00031
|
|
NM_014476.6(PDLIM3):c.169A>G (p.Thr57Ala)
|
rs142951316
|
0.00031
|
|
NM_014714.4(IFT140):c.2586C>T (p.Ala862=)
|
rs148557575
|
0.00031
|
|
NM_014780.5(CUL7):c.3273G>A (p.Ser1091=)
|
rs144269675
|
0.00031
|
|
NM_014908.4(DOLK):c.1394G>A (p.Arg465His)
|
rs148930043
|
0.00031
|
|
NM_014915.3(ANKRD26):c.599A>G (p.Lys200Arg)
|
rs150623081
|
0.00031
|
|
NM_015570.4(AUTS2):c.581C>T (p.Ser194Phe)
|
rs150765660
|
0.00031
|
|
NM_015662.3(IFT172):c.3005T>A (p.Leu1002His)
|
rs369466577
|
0.00031
|
|
NM_016343.4(CENPF):c.4582T>C (p.Cys1528Arg)
|
rs141472136
|
0.00031
|
|
NM_017436.7(A4GALT):c.892G>T (p.Asp298Tyr)
|
rs200414851
|
0.00031
|
|
NM_017636.4(TRPM4):c.1242T>C (p.Phe414=)
|
rs200633475
|
0.00031
|
|
NM_017654.4(SAMD9):c.2374G>A (p.Val792Ile)
|
rs147587391
|
0.00031
|
|
NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu)
|
rs139007744
|
0.00031
|
|
NM_018136.5(ASPM):c.2968G>A (p.Asp990Asn)
|
rs142537154
|
0.00031
|
|
NM_018136.5(ASPM):c.3772G>A (p.Ala1258Thr)
|
rs142214506
|
0.00031
|
|
NM_019098.5(CNGB3):c.2308G>T (p.Val770Phe)
|
rs78239264
|
0.00031
|
|
NM_020436.5(SALL4):c.1630C>T (p.Pro544Ser)
|
rs150402866
|
0.00031
|
|
NM_021098.3(CACNA1H):c.2269G>C (p.Gly757Arg)
|
rs200813987
|
0.00031
|
|
NM_021098.3(CACNA1H):c.6251C>T (p.Ala2084Val)
|
rs368835582
|
0.00031
|
|
NM_022124.6(CDH23):c.*141G>A
|
rs535544696
|
0.00031
|
|
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys)
|
rs370074117
|
0.00031
|
|
NM_022124.6(CDH23):c.2341G>A (p.Ala781Thr)
|
rs375918283
|
0.00031
|
|
NM_022356.4(P3H1):c.1720+4G>A
|
rs371232413
|
0.00031
|
|
NM_022915.5(MRPL44):c.648+4C>T
|
rs369491695
|
0.00031
|
|
NM_024079.5(ALG8):c.1506C>T (p.Gly502=)
|
rs148820351
|
0.00031
|
|
NM_025099.6(CTC1):c.1207-4C>T
|
rs369904656
|
0.00031
|
|
NM_032444.4(SLX4):c.2609C>T (p.Ala870Val)
|
rs149584080
|
0.00031
|
|
NM_032444.4(SLX4):c.3368C>A (p.Ser1123Tyr)
|
rs144647122
|
0.00031
|
|
NM_032806.6(POMGNT2):c.780A>G (p.Ser260=)
|
rs371749889
|
0.00031
|
|
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln)
|
rs147927477
|
0.00031
|
|
NM_080916.3(DGUOK):c.256-7C>T
|
rs199531052
|
0.00031
|
|
NM_133261.3(GIPC3):c.20G>A (p.Arg7Gln)
|
rs998073430
|
0.00031
|
|
NM_133261.3(GIPC3):c.440G>A (p.Arg147Gln)
|
rs141293401
|
0.00031
|
|
NM_139076.3(ABRAXAS1):c.1011del (p.Ala338fs)
|
rs764429803
|
0.00031
|
|
NM_139125.4(MASP1):c.1507C>T (p.Arg503Cys)
|
rs201025468
|
0.00031
|
|
NM_139343.3(BIN1):c.906C>T (p.Gly302=)
|
rs371258305
|
0.00031
|
|
NM_152268.4(PARS2):c.1075G>T (p.Asp359Tyr)
|
rs192469262
|
0.00031
|
|
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=)
|
rs886062952
|
0.00031
|
|
NM_152564.5(VPS13B):c.885C>T (p.Gly295=)
|
rs143112539
|
0.00031
|
|
NM_153212.3(GJB4):c.568A>T (p.Met190Leu)
|
rs543341299
|
0.00031
|
|
NM_172250.3(MMAA):c.393A>T (p.Arg131Ser)
|
rs371714495
|
0.00031
|
|
NM_174934.4(SCN4B):c.607G>A (p.Val203Met)
|
rs150312046
|
0.00031
|
|
NM_182760.4(SUMF1):c.891C>T (p.Asn297=)
|
rs143754187
|
0.00031
|
|
NM_182914.3(SYNE2):c.4910A>G (p.Tyr1637Cys)
|
rs143578863
|
0.00031
|
|
NM_183235.3(RAB27A):c.418C>G (p.Gln140Glu)
|
rs150463407
|
0.00031
|
|
NM_183357.3(ADCY5):c.3253G>A (p.Val1085Ile)
|
rs149775261
|
0.00031
|
|
NM_194248.3(OTOF):c.4023+1G>A
|
rs186810296
|
0.00031
|
|
NM_198525.3(KIF7):c.2049G>A (p.Gly683=)
|
rs141856439
|
0.00031
|
|
NM_201384.3(PLEC):c.2536G>A (p.Gly846Ser)
|
rs189233521
|
0.00031
|
|
NM_207034.3(EDN3):c.208G>A (p.Ala70Thr)
|
rs369429604
|
0.00031
|
|
NM_207122.2(EXT2):c.1912G>A (p.Val638Ile)
|
rs145024832
|
0.00031
|
|
NM_207122.2(EXT2):c.260T>G (p.Met87Arg)
|
rs140075817
|
0.00031
|
|
NM_000022.4(ADA):c.384G>A (p.Glu128=)
|
rs572092463
|
0.00030
|
|
NM_000023.4(SGCA):c.189C>T (p.His63=)
|
rs373770886
|
0.00030
|
|
NM_000051.4(ATM):c.7044G>A (p.Thr2348=)
|
rs140104789
|
0.00030
|
|
NM_000088.4(COL1A1):c.1768-8C>T
|
rs193922142
|
0.00030
|
|
NM_000093.5(COL5A1):c.3906+10C>T
|
rs183881247
|
0.00030
|
|
NM_000094.4(COL7A1):c.853G>A (p.Val285Ile)
|
rs142568125
|
0.00030
|
|
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)
|
rs183306990
|
0.00030
|
|
NM_000199.5(SGSH):c.999C>T (p.Tyr333=)
|
rs149139346
|
0.00030
|
|
NM_000212.3(ITGB3):c.285C>T (p.Leu95=)
|
rs151121691
|
0.00030
|
|
NM_000260.4(MYO7A):c.731G>A (p.Arg244His)
|
rs121965081
|
0.00030
|
|
NM_000271.5(NPC1):c.3717C>T (p.His1239=)
|
rs34624018
|
0.00030
|
|
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu)
|
rs12720452
|
0.00030
|
|
NM_000381.4(MID1):c.1988C>T (p.Thr663Ile)
|
rs138558359
|
0.00030
|
|
NM_000382.3(ALDH3A2):c.417G>A (p.Leu139=)
|
rs200806435
|
0.00030
|
|
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val)
|
rs121913016
|
0.00030
|
|
NM_000414.4(HSD17B4):c.1670A>T (p.Lys557Met)
|
rs73790880
|
0.00030
|
|
NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro)
|
rs397516423
|
0.00030
|
|
NM_000441.2(SLC26A4):c.2211G>C (p.Glu737Asp)
|
rs200664061
|
0.00030
|
|
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln)
|
rs147859619
|
0.00030
|
|
NM_000512.5(GALNS):c.121-4G>A
|
rs200008960
|
0.00030
|
|
NM_000528.4(MAN2B1):c.1906C>T (p.Pro636Ser)
|
rs141276889
|
0.00030
|
|
NM_000540.3(RYR1):c.79G>A (p.Val27Met)
|
rs143481004
|
0.00030
|
|
NM_000546.6(TP53):c.173C>G (p.Pro58Arg)
|
rs144386518
|
0.00030
|
|
NM_000687.4(AHCY):c.882C>G (p.Ala294=)
|
rs376464023
|
0.00030
|
|
NM_000894.3(LHB):c.364G>A (p.Gly122Ser)
|
rs5030774
|
0.00030
|
|
NM_001008537.3(NEXMIF):c.133G>A (p.Ala45Thr)
|
rs199960807
|
0.00030
|
|
NM_001039.4(SCNN1G):c.1939G>T (p.Asp647Tyr)
|
rs72647543
|
0.00030
|
|
NM_001039141.3(TRIOBP):c.5274G>A (p.Thr1758=)
|
rs370386947
|
0.00030
|
|
NM_001039141.3(TRIOBP):c.5853G>A (p.Leu1951=)
|
rs55821172
|
0.00030
|
|
NM_001048166.1(STIL):c.1005A>G (p.Glu335=)
|
rs149296029
|
0.00030
|
|
NM_001048174.2(MUTYH):c.116-54C>T
|
rs367908623
|
0.00030
|
|
NM_001099274.3(TINF2):c.1166T>C (p.Ile389Thr)
|
rs192423622
|
0.00030
|
|
NM_001161352.2(KCNMA1):c.3150G>A (p.Thr1050=)
|
rs75116272
|
0.00030
|
|
NM_001200.4(BMP2):c.891G>A (p.Lys297=)
|
rs147542801
|
0.00030
|
|
NM_001267550.2(TTN):c.32071G>A (p.Ala10691Thr)
|
rs371452173
|
0.00030
|
|
NM_001267550.2(TTN):c.54207A>G (p.Pro18069=)
|
rs372686070
|
0.00030
|
|
NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn)
|
rs72646870
|
0.00030
|
|
NM_001267550.2(TTN):c.70097T>C (p.Val23366Ala)
|
rs372782502
|
0.00030
|
|
NM_001267550.2(TTN):c.70906C>T (p.Arg23636Cys)
|
rs189208539
|
0.00030
|
|
NM_001267550.2(TTN):c.72001G>A (p.Ala24001Thr)
|
rs180828370
|
0.00030
|
|
NM_001267550.2(TTN):c.80263T>C (p.Phe26755Leu)
|
rs200181804
|
0.00030
|
|
NM_001267550.2(TTN):c.88733G>A (p.Arg29578His)
|
rs374147064
|
0.00030
|
|
NM_001267550.2(TTN):c.90991C>T (p.Pro30331Ser)
|
rs75022916
|
0.00030
|
|
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys)
|
rs202064385
|
0.00030
|
|
NM_001291303.3(FAT4):c.6731C>T (p.Thr2244Met)
|
rs145342353
|
0.00030
|
|
NM_001355436.2(SPTB):c.1048G>A (p.Val350Met)
|
rs141973081
|
0.00030
|
|
NM_001369.3(DNAH5):c.2200C>G (p.Leu734Val)
|
rs139180192
|
0.00030
|
|
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)
|
rs151001016
|
0.00030
|
|
NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys)
|
rs141525226
|
0.00030
|
|
NM_001379081.2(FREM1):c.4945A>G (p.Ile1649Val)
|
rs199891537
|
0.00030
|
|
NM_001379081.2(FREM1):c.6021C>G (p.Pro2007=)
|
rs200987019
|
0.00030
|
|
NM_001384125.1(BLTP1):c.575C>G (p.Pro192Arg)
|
rs188182890
|
0.00030
|
|
NM_001457.4(FLNB):c.6928A>G (p.Ile2310Val)
|
rs143005300
|
0.00030
|
|
NM_001854.4(COL11A1):c.1169A>G (p.Glu390Gly)
|
rs139480042
|
0.00030
|
|
NM_001927.4(DES):c.924C>T (p.Asn308=)
|
rs578191306
|
0.00030
|
|
NM_001953.5(TYMP):c.1443G>A (p.Gln481=)
|
rs377497287
|
0.00030
|
|
NM_002334.4(LRP4):c.2815-6T>G
|
rs372210790
|
0.00030
|
|
NM_002471.4(MYH6):c.292G>A (p.Glu98Lys)
|
rs140596256
|
0.00030
|
|
NM_002972.4(SBF1):c.3147-8G>C
|
rs182956712
|
0.00030
|
|
NM_003331.5(TYK2):c.648G>A (p.Pro216=)
|
rs142642403
|
0.00030
|
|
NM_003737.4(DCHS1):c.3686G>A (p.Arg1229His)
|
rs139849372
|
0.00030
|
|
NM_003737.4(DCHS1):c.6862+3G>A
|
rs372790879
|
0.00030
|
|
NM_003742.4(ABCB11):c.2620T>C (p.Ser874Pro)
|
rs184334834
|
0.00030
|
|
NM_004369.4(COL6A3):c.8193A>C (p.Pro2731=)
|
rs140441798
|
0.00030
|
|
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro)
|
rs587783504
|
0.00030
|
|
NM_004525.3(LRP2):c.3551-9C>A
|
rs373882047
|
0.00030
|
|
NM_005220.3(DLX3):c.252G>A (p.Ser84=)
|
rs139226711
|
0.00030
|
|
NM_005249.5(FOXG1):c.245C>A (p.Pro82Gln)
|
rs796052453
|
0.00030
|
|
NM_005732.4(RAD50):c.1154G>A (p.Arg385His)
|
rs150030986
|
0.00030
|
|
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser)
|
rs113446173
|
0.00030
|
|
NM_006005.3(WFS1):c.2436C>T (p.Ser812=)
|
rs142630687
|
0.00030
|
|
NM_006015.6(ARID1A):c.4702C>T (p.Pro1568Ser)
|
rs113718290
|
0.00030
|
|
NM_006206.6(PDGFRA):c.276G>A (p.Ala92=)
|
rs140725151
|
0.00030
|
|
NM_006514.4(SCN10A):c.2428G>T (p.Gly810Trp)
|
rs145712124
|
0.00030
|
|
NM_006623.4(PHGDH):c.296C>G (p.Pro99Arg)
|
rs182600362
|
0.00030
|
|
NM_007118.4(TRIO):c.5671T>C (p.Ser1891Pro)
|
rs138840811
|
0.00030
|
|
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn)
|
rs371839994
|
0.00030
|
|
NM_014244.5(ADAMTS2):c.2439C>T (p.His813=)
|
rs141661592
|
0.00030
|
|
NM_014363.6(SACS):c.3042A>G (p.Leu1014=)
|
rs141982796
|
0.00030
|
|
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met)
|
rs145387010
|
0.00030
|
|
NM_014762.4(DHCR24):c.102C>T (p.Phe34=)
|
rs144149165
|
0.00030
|
|
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro)
|
rs140147684
|
0.00030
|
|
NM_015102.5(NPHP4):c.909C>T (p.Val303=)
|
rs201488441
|
0.00030
|
|
NM_015192.4(PLCB1):c.2570C>T (p.Thr857Met)
|
rs184436336
|
0.00030
|
|
NM_015294.6(TRIM37):c.1357T>A (p.Leu453Met)
|
rs200578021
|
0.00030
|
|
NM_015386.3(COG4):c.2030A>G (p.Asp677Gly)
|
rs201323781
|
0.00030
|
|
NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys)
|
rs377405910
|
0.00030
|
|
NM_015662.3(IFT172):c.1523G>A (p.Arg508His)
|
rs144868723
|
0.00030
|
|
NM_015662.3(IFT172):c.886C>T (p.Arg296Trp)
|
rs145541911
|
0.00030
|
|
NM_017617.5(NOTCH1):c.1100-8C>T
|
rs545088400
|
0.00030
|
|
NM_018136.5(ASPM):c.7157A>G (p.His2386Arg)
|
rs137890991
|
0.00030
|
|
NM_020987.5(ANK3):c.2173G>A (p.Ala725Thr)
|
rs144051466
|
0.00030
|
|
NM_021076.4(NEFH):c.269C>T (p.Ala90Val)
|
rs61556467
|
0.00030
|
|
NM_021930.6(RINT1):c.766C>G (p.Arg256Gly)
|
rs144994876
|
0.00030
|
|
NM_022124.6(CDH23):c.2171G>A (p.Arg724His)
|
rs374955091
|
0.00030
|
|
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg)
|
rs201504946
|
0.00030
|
|
NM_030962.4(SBF2):c.1509A>G (p.Glu503=)
|
rs143773975
|
0.00030
|
|
NM_031220.4(PITPNM3):c.1688C>T (p.Thr563Met)
|
rs139119218
|
0.00030
|
|
NM_054027.6(ANKH):c.1141+5A>G
|
rs187972211
|
0.00030
|
|
NM_138413.4(HOGA1):c.185A>T (p.His62Leu)
|
rs150812556
|
0.00030
|
|
NM_138477.4(CDAN1):c.3204+5G>A
|
rs201125492
|
0.00030
|
|
NM_144599.5(NIPA1):c.21A>G (p.Ala7=)
|
rs749414711
|
0.00030
|
|
NM_147127.5(EVC2):c.2304G>C (p.Val768=)
|
rs139936564
|
0.00030
|
|
NM_152564.5(VPS13B):c.11114A>T (p.Glu3705Val)
|
rs376308074
|
0.00030
|
|
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=)
|
rs141637316
|
0.00030
|
|
NM_152564.5(VPS13B):c.4452T>C (p.Asn1484=)
|
rs148033080
|
0.00030
|
|
NM_172364.5(CACNA2D4):c.1509C>T (p.Ser503=)
|
rs199888783
|
0.00030
|
|
NM_178857.6(RP1L1):c.609+2T>C
|
rs199958805
|
0.00030
|
|
NM_181486.4(TBX5):c.1115C>T (p.Ser372Leu)
|
rs143068551
|
0.00030
|
|
NM_182914.3(SYNE2):c.15446G>A (p.Arg5149His)
|
rs142206385
|
0.00030
|
|
NM_182943.3(PLOD2):c.1744-11A>G
|
rs376704588
|
0.00030
|
|
NM_182961.4(SYNE1):c.11343C>T (p.Gly3781=)
|
rs150121030
|
0.00030
|
|
NM_194248.3(OTOF):c.1135G>A (p.Val379Met)
|
rs141111646
|
0.00030
|
|
NM_201384.3(PLEC):c.4469G>A (p.Arg1490Gln)
|
rs371290504
|
0.00030
|
|
NM_201525.4(ADGRG1):c.214C>T (p.Pro72Ser)
|
rs144561715
|
0.00030
|
|
NM_000018.4(ACADVL):c.1678+15C>T
|
rs371402802
|
0.00029
|
|
NM_000022.4(ADA):c.975+8G>A
|
rs192148185
|
0.00029
|
|
NM_000037.4(ANK1):c.3984+9A>G
|
rs369984591
|
0.00029
|
|
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg)
|
rs141921797
|
0.00029
|
|
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His)
|
rs201666889
|
0.00029
|
|
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile)
|
rs3092831
|
0.00029
|
|
NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=)
|
rs372456815
|
0.00029
|
|
NM_000057.4(BLM):c.43C>T (p.Arg15Cys)
|
rs148545569
|
0.00029
|
|
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu)
|
rs141204958
|
0.00029
|
|
NM_000070.3(CAPN3):c.1842G>C (p.Glu614Asp)
|
rs201607149
|
0.00029
|
|
NM_000071.3(CBS):c.1479G>A (p.Thr493=)
|
rs143225442
|
0.00029
|
|
NM_000075.4(CDK4):c.625C>T (p.Arg209Cys)
|
rs140644696
|
0.00029
|
|
NM_000077.5(CDKN2A):c.-14C>T
|
rs764244718
|
0.00029
|
|
NM_000081.4(LYST):c.2963G>A (p.Arg988Gln)
|
rs150953050
|
0.00029
|
|
NM_000081.4(LYST):c.3394-14T>C
|
rs372892911
|
0.00029
|
|
NM_000108.5(DLD):c.763A>C (p.Met255Leu)
|
rs533405046
|
0.00029
|
|
NM_000130.5(F5):c.1158A>G (p.Gln386=)
|
rs148623862
|
0.00029
|
|
NM_000130.5(F5):c.5490G>A (p.Leu1830=)
|
rs149092241
|
0.00029
|
|
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu)
|
rs149551759
|
0.00029
|
|
NM_000135.4(FANCA):c.2637C>T (p.Ala879=)
|
rs149435806
|
0.00029
|
|
NM_000135.4(FANCA):c.577C>G (p.Leu193Val)
|
rs141861208
|
0.00029
|
|
NM_000138.5(FBN1):c.2175T>C (p.Asn725=)
|
rs140606
|
0.00029
|
|
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala)
|
rs111801777
|
0.00029
|
|
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys)
|
rs148888513
|
0.00029
|
|
NM_000141.5(FGFR2):c.*674G>T
|
rs566155088
|
0.00029
|
|
NM_000199.5(SGSH):c.6C>T (p.Ser2=)
|
rs1043643087
|
0.00029
|
|
NM_000214.3(JAG1):c.2043G>A (p.Thr681=)
|
rs151291264
|
0.00029
|
|
NM_000243.3(MEFV):c.1827C>G (p.Pro609=)
|
rs104895135
|
0.00029
|
|
NM_000243.3(MEFV):c.231C>A (p.Ile77=)
|
rs139899201
|
0.00029
|
|
NM_000245.4(MET):c.2198C>T (p.Thr733Ile)
|
rs201271860
|
0.00029
|
|
NM_000255.4(MMUT):c.878A>G (p.Gln293Arg)
|
rs138374956
|
0.00029
|
|
NM_000256.3(MYBPC3):c.3279C>T (p.Gly1093=)
|
rs36212064
|
0.00029
|
|
NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp)
|
rs201234369
|
0.00029
|
|
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met)
|
rs201203036
|
0.00029
|
|
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His)
|
rs201489714
|
0.00029
|
|
NM_000260.4(MYO7A):c.6165C>T (p.Ser2055=)
|
rs397516327
|
0.00029
|
|
NM_000262.3(NAGA):c.993G>T (p.Leu331=)
|
rs147853281
|
0.00029
|
|
NM_000268.4(NF2):c.1340+8G>T
|
rs370604189
|
0.00029
|
|
NM_000271.5(NPC1):c.3246-8C>T
|
rs145227129
|
0.00029
|
|
NM_000287.4(PEX6):c.2700C>T (p.Asn900=)
|
rs533766104
|
0.00029
|
|
NM_000293.3(PHKB):c.1364-10T>C
|
rs199899291
|
0.00029
|
|
NM_000306.4(POU1F1):c.337C>T (p.Arg113Trp)
|
rs138356138
|
0.00029
|
|
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg)
|
rs143335584
|
0.00029
|
|
NM_000321.3(RB1):c.929G>A (p.Gly310Glu)
|
rs200844292
|
0.00029
|
|
NM_000325.6(PITX2):c.639A>T (p.Ser213=)
|
rs141176394
|
0.00029
|
|
NM_000334.4(SCN4A):c.218C>T (p.Pro73Leu)
|
rs75086141
|
0.00029
|
|
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg)
|
rs199473183
|
0.00029
|
|
NM_000336.3(SCNN1B):c.880+10G>A
|
rs200089599
|
0.00029
|
|
NM_000337.6(SGCD):c.510G>A (p.Glu170=)
|
rs368838376
|
0.00029
|
|
NM_000350.3(ABCA4):c.2486C>T (p.Thr829Met)
|
rs139250920
|
0.00029
|
|
NM_000361.3(THBD):c.1102C>T (p.Pro368Ser)
|
rs144853671
|
0.00029
|
|
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu)
|
rs75820036
|
0.00029
|
|
NM_000368.5(TSC1):c.346T>G (p.Leu116Val)
|
rs199620268
|
0.00029
|
|
NM_000384.3(APOB):c.914A>G (p.Lys305Arg)
|
rs199937544
|
0.00029
|
|
NM_000414.4(HSD17B4):c.1685G>A (p.Arg562His)
|
rs35281104
|
0.00029
|
|
NM_000443.4(ABCB4):c.2395-3T>C
|
rs377462787
|
0.00029
|
|
NM_000465.4(BARD1):c.346C>T (p.His116Tyr)
|
rs144856889
|
0.00029
|
|
NM_000466.3(PEX1):c.1360-7C>T
|
rs371890000
|
0.00029
|
|
NM_000466.3(PEX1):c.3044A>C (p.Glu1015Ala)
|
rs185181696
|
0.00029
|
|
NM_000488.4(SERPINC1):c.29C>A (p.Thr10Asn)
|
rs61736655
|
0.00029
|
|
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=)
|
rs1800121
|
0.00029
|
|
NM_000507.4(FBP1):c.102G>C (p.Leu34=)
|
rs143832764
|
0.00029
|
|
NM_000507.4(FBP1):c.495C>T (p.Tyr165=)
|
rs139264724
|
0.00029
|
|
NM_000515.5(GH1):c.597C>G (p.Val199=)
|
rs142704768
|
0.00029
|
|
NM_000518.5(HBB):c.324C>T (p.Gly108=)
|
rs193922562
|
0.00029
|
|
NM_000527.5(LDLR):c.507C>T (p.Asn169=)
|
rs146354103
|
0.00029
|
|
NM_000528.4(MAN2B1):c.2501C>T (p.Ser834Leu)
|
rs199967717
|
0.00029
|
|
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys)
|
rs375289386
|
0.00029
|
|
NM_000540.3(RYR1):c.3381C>T (p.Arg1127=)
|
rs200780880
|
0.00029
|
|
NM_000540.3(RYR1):c.5235G>A (p.Thr1745=)
|
rs149471411
|
0.00029
|
|
NM_000548.5(TSC2):c.5068+9G>A
|
rs45445593
|
0.00029
|
|
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys)
|
rs45517391
|
0.00029
|
|
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser)
|
rs143815159
|
0.00029
|
|
NM_000642.3(AGL):c.82+4A>C
|
rs765098686
|
0.00029
|
|
NM_000687.4(AHCY):c.855-8C>T
|
rs370059571
|
0.00029
|
|
NM_000709.4(BCKDHA):c.294G>A (p.Pro98=)
|
rs142967869
|
0.00029
|
|
NM_000719.7(CACNA1C):c.2460+6G>A
|
rs369246066
|
0.00029
|
|
NM_000719.7(CACNA1C):c.5149G>A (p.Ala1717Thr)
|
rs200865354
|
0.00029
|
|
NM_000742.4(CHRNA2):c.745G>A (p.Ala249Thr)
|
rs77710085
|
0.00029
|
|
NM_000744.7(CHRNA4):c.274G>C (p.Glu92Gln)
|
rs146651027
|
0.00029
|
|
NM_000834.5(GRIN2B):c.2931C>G (p.Asp977Glu)
|
rs147956755
|
0.00029
|
|
NM_001002294.3(FMO3):c.341A>G (p.Asn114Ser)
|
rs186763441
|
0.00029
|
|
NM_001008216.2(GALE):c.369G>A (p.Gly123=)
|
rs138148991
|
0.00029
|
|
NM_001009944.3(PKD1):c.7937T>C (p.Ile2646Thr)
|
rs374500158
|
0.00029
|
|
NM_001018113.3(FANCB):c.1371C>T (p.Val457=)
|
rs149695930
|
0.00029
|
|
NM_001022.4(RPS19):c.68A>G (p.Lys23Arg)
|
rs143477104
|
0.00029
|
|
NM_001035.3(RYR2):c.649A>G (p.Ile217Val)
|
rs200642525
|
0.00029
|
|
NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile)
|
rs147205617
|
0.00029
|
|
NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu)
|
rs137906617
|
0.00029
|
|
NM_001042492.3(NF1):c.5906A>T (p.Gln1969Leu)
|
rs143502927
|
0.00029
|
|
NM_001044.5(SLC6A3):c.1390G>A (p.Val464Ile)
|
rs140401978
|
0.00029
|
|
NM_001048166.1(STIL):c.152+4T>C
|
rs368201717
|
0.00029
|
|
NM_001077350.3(NPRL3):c.442C>T (p.Arg148Cys)
|
rs201069648
|
0.00029
|
|
NM_001077365.2(POMT1):c.1698+10C>A
|
rs184131819
|
0.00029
|
|
NM_001081.4(CUBN):c.10834C>T (p.Arg3612Trp)
|
rs151134377
|
0.00029
|
|
NM_001083116.3(PRF1):c.1000G>A (p.Gly334Ser)
|
rs145463632
|
0.00029
|
|
NM_001110556.2(FLNA):c.2023-8C>T
|
rs587780335
|
0.00029
|
|
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser)
|
rs200053635
|
0.00029
|
|
NM_001114753.3(ENG):c.1258A>G (p.Met420Val)
|
rs143724056
|
0.00029
|
|
NM_001126108.2(SLC12A3):c.1926-10C>G
|
rs375828467
|
0.00029
|
|
NM_001127222.2(CACNA1A):c.4806C>T (p.Ile1602=)
|
rs372240227
|
0.00029
|
|
NM_001127222.2(CACNA1A):c.5133+10G>A
|
rs369033909
|
0.00029
|
|
NM_001128178.3(NPHP1):c.43C>A (p.Arg15Ser)
|
rs373915635
|
0.00029
|
|
NM_001128228.3(TPRN):c.2111G>A (p.Arg704His)
|
rs150844105
|
0.00029
|
|
NM_001134363.3(RBM20):c.567G>T (p.Gln189His)
|
rs377623370
|
0.00029
|
|
NM_001142800.2(EYS):c.5577C>T (p.Pro1859=)
|
rs747911999
|
0.00029
|
|
NM_001145809.2(MYH14):c.5452C>T (p.Arg1818Cys)
|
rs377096949
|
0.00029
|
|
NM_001145809.2(MYH14):c.5599C>T (p.Arg1867Cys)
|
rs187789045
|
0.00029
|
|
NM_001148.6(ANK2):c.10881T>G (p.His3627Gln)
|
rs148405740
|
0.00029
|
|
NM_001148.6(ANK2):c.11009C>A (p.Thr3670Asn)
|
rs45608232
|
0.00029
|
|
NM_001148.6(ANK2):c.9825T>G (p.Asp3275Glu)
|
rs149043752
|
0.00029
|
|
NM_001160372.4(TRAPPC9):c.1809G>A (p.Leu603=)
|
rs146235874
|
0.00029
|
|
NM_001161748.2(LIM2):c.175+50G>A
|
rs147625714
|
0.00029
|
|
NM_001164508.2(NEB):c.12492A>C (p.Pro4164=)
|
rs1462106212
|
0.00029
|
|
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile)
|
rs202139330
|
0.00029
|
|
NM_001164508.2(NEB):c.20162T>C (p.Leu6721Pro)
|
rs111517514
|
0.00029
|
|
NM_001164508.2(NEB):c.22647G>A (p.Glu7549=)
|
rs201688876
|
0.00029
|
|
NM_001164508.2(NEB):c.23013C>T (p.Ser7671=)
|
rs370873040
|
0.00029
|
|
NM_001164508.2(NEB):c.5696C>T (p.Thr1899Ile)
|
rs202234374
|
0.00029
|
|
NM_001211.6(BUB1B):c.2763G>C (p.Gln921His)
|
rs28989183
|
0.00029
|
|
NM_001242957.3(MAK):c.1819C>T (p.Arg607Trp)
|
rs199594233
|
0.00029
|
|
NM_001243133.2(NLRP3):c.404G>A (p.Arg135His)
|
rs138946894
|
0.00029
|
|
NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr)
|
rs200237973
|
0.00029
|
|
NM_001267550.2(TTN):c.103417G>A (p.Val34473Ile)
|
rs188917199
|
0.00029
|
|
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile)
|
rs376768790
|
0.00029
|
|
NM_001267550.2(TTN):c.27498G>A (p.Ser9166=)
|
rs372528823
|
0.00029
|
|
NM_001267550.2(TTN):c.28733C>T (p.Thr9578Met)
|
rs184923756
|
0.00029
|
|
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met)
|
rs200593368
|
0.00029
|
|
NM_001267550.2(TTN):c.4208G>C (p.Arg1403Thr)
|
rs531590921
|
0.00029
|
|
NM_001267550.2(TTN):c.62317C>A (p.Leu20773Met)
|
rs375173874
|
0.00029
|
|
NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr)
|
rs201804005
|
0.00029
|
|
NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val)
|
rs72646898
|
0.00029
|
|
NM_001267550.2(TTN):c.75504T>G (p.Ser25168Arg)
|
rs375204371
|
0.00029
|
|
NM_001267550.2(TTN):c.75682C>T (p.Pro25228Ser)
|
rs377226540
|
0.00029
|
|
NM_001267550.2(TTN):c.79085T>C (p.Met26362Thr)
|
rs529839486
|
0.00029
|
|
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)
|
rs138060032
|
0.00029
|
|
NM_001267550.2(TTN):c.88306+8T>C
|
rs369690199
|
0.00029
|
|
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys)
|
rs200513274
|
0.00029
|
|
NM_001271.4(CHD2):c.1091A>G (p.Asn364Ser)
|
rs143043614
|
0.00029
|
|
NM_001276345.2(TNNT2):c.41+16A>G
|
rs370729174
|
0.00029
|
|
NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=)
|
rs150682314
|
0.00029
|
|
NM_001277115.2(DNAH11):c.794G>A (p.Arg265His)
|
rs192989152
|
0.00029
|
|
NM_001283009.2(RTEL1):c.1301C>T (p.Thr434Met)
|
rs77086616
|
0.00029
|
|
NM_001292063.2(OTOG):c.6536T>C (p.Val2179Ala)
|
rs770039471
|
0.00029
|
|
NM_001308093.3(GATA4):c.802G>A (p.Val268Met)
|
rs116781972
|
0.00029
|
|
NM_001358921.2(COQ2):c.136C>T (p.Pro46Ser)
|
rs767013819
|
0.00029
|
|
NM_001360.3(DHCR7):c.28C>G (p.Pro10Ala)
|
rs139166382
|
0.00029
|
|
NM_001365951.3(KIF1B):c.2115+7081C>T
|
rs376558549
|
0.00029
|
|
NM_001367624.2(ZNF469):c.6629T>C (p.Leu2210Pro)
|
rs564413710
|
0.00029
|
|
NM_001367624.2(ZNF469):c.845G>A (p.Gly282Glu)
|
rs757999676
|
0.00029
|
|
NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys)
|
rs142155986
|
0.00029
|
|
NM_001371333.1(DIABLO):c.50+5C>T
|
rs372776075
|
0.00029
|
|
NM_001376256.1(CRYM):c.108C>A (p.Ser36Arg)
|
rs147233841
|
0.00029
|
|
NM_001378452.1(ITPR1):c.3921C>T (p.His1307=)
|
rs61757108
|
0.00029
|
|
NM_001378609.3(OTOGL):c.4518C>T (p.Asp1506=)
|
rs187941815
|
0.00029
|
|
NM_001379500.1(COL18A1):c.1687G>A (p.Ala563Thr)
|
rs201476017
|
0.00029
|
|
NM_001384474.1(LOXHD1):c.5400-3C>T
|
rs528236655
|
0.00029
|
|
NM_001384732.1(CPLANE1):c.5447G>A (p.Cys1816Tyr)
|
rs138639220
|
0.00029
|
|
NM_001395413.1(POR):c.1228G>A (p.Gly410Ser)
|
rs567904247
|
0.00029
|
|
NM_001458.5(FLNC):c.1474A>G (p.Lys492Glu)
|
rs118056738
|
0.00029
|
|
NM_001698.3(AUH):c.936T>C (p.Tyr312=)
|
rs139628387
|
0.00029
|
|
NM_001848.3(COL6A1):c.1399-3C>T
|
rs200095847
|
0.00029
|
|
NM_001849.4(COL6A2):c.1522-9C>T
|
rs371576207
|
0.00029
|
|
NM_001849.4(COL6A2):c.2608G>A (p.Asp870Asn)
|
rs145785230
|
0.00029
|
|
NM_001851.6(COL9A1):c.2011G>A (p.Glu671Lys)
|
rs141825151
|
0.00029
|
|
NM_001853.4(COL9A3):c.1258C>G (p.Gln420Glu)
|
rs138648117
|
0.00029
|
|
NM_001854.4(COL11A1):c.1489-5C>A
|
rs370997745
|
0.00029
|
|
NM_001966.4(EHHADH):c.6C>G (p.Ala2=)
|
rs141515588
|
0.00029
|
|
NM_002047.4(GARS1):c.253A>G (p.Lys85Glu)
|
rs200294578
|
0.00029
|
|
NM_002103.5(GYS1):c.1338C>T (p.His446=)
|
rs139974904
|
0.00029
|
|
NM_002180.3(IGHMBP2):c.855G>A (p.Ala285=)
|
rs147409148
|
0.00029
|
|
NM_002354.3(EPCAM):c.577A>G (p.Ile193Val)
|
rs200676965
|
0.00029
|
|
NM_002427.4(MMP13):c.663G>A (p.Ala221=)
|
rs143331971
|
0.00029
|
|
NM_002470.4(MYH3):c.376G>C (p.Val126Leu)
|
rs201787435
|
0.00029
|
|
NM_002471.4(MYH6):c.5410C>A (p.Gln1804Lys)
|
rs144571463
|
0.00029
|
|
NM_002471.4(MYH6):c.831G>T (p.Gln277His)
|
rs140660481
|
0.00029
|
|
NM_002474.3(MYH11):c.1502G>A (p.Arg501His)
|
rs144244239
|
0.00029
|
|
NM_002528.7(NTHL1):c.74G>A (p.Arg25Lys)
|
rs2302172
|
0.00029
|
|
NM_002529.4(NTRK1):c.1068C>T (p.Asn356=)
|
rs145823996
|
0.00029
|
|
NM_002617.4(PEX10):c.316C>T (p.Leu106=)
|
rs140340426
|
0.00029
|
|
NM_002691.4(POLD1):c.3219-19C>A
|
rs374168125
|
0.00029
|
|
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser)
|
rs41554817
|
0.00029
|
|
NM_002834.5(PTPN11):c.48A>G (p.Ala16=)
|
rs372736227
|
0.00029
|
|
NM_002863.5(PYGL):c.1757C>T (p.Thr586Met)
|
rs144989341
|
0.00029
|
|
NM_002880.4(RAF1):c.212A>G (p.Asn71Ser)
|
rs184022679
|
0.00029
|
|
NM_003060.4(SLC22A5):c.287G>C (p.Gly96Ala)
|
rs377767450
|
0.00029
|
|
NM_003322.6(TULP1):c.327C>G (p.Ala109=)
|
rs568898016
|
0.00029
|
|
NM_003482.4(KMT2D):c.840-6C>T
|
rs182926808
|
0.00029
|
|
NM_003721.4(RFXANK):c.188-11C>T
|
rs201545133
|
0.00029
|
|
NM_003859.3(DPM1):c.22C>T (p.Arg8Cys)
|
rs201392536
|
0.00029
|
|
NM_004260.4(RECQL4):c.2260C>T (p.Arg754Trp)
|
rs193024188
|
0.00029
|
|
NM_004369.4(COL6A3):c.9498C>T (p.Leu3166=)
|
rs150376179
|
0.00029
|
|
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=)
|
rs146168040
|
0.00029
|
|
NM_004380.3(CREBBP):c.3985C>T (p.Leu1329=)
|
rs149055008
|
0.00029
|
|
NM_004448.4(ERBB2):c.1738-5C>G
|
rs749633839
|
0.00029
|
|
NM_004727.3(SLC24A1):c.2577C>T (p.Ser859=)
|
rs371059164
|
0.00029
|
|
NM_004817.4(TJP2):c.3068C>T (p.Ala1023Val)
|
rs199767035
|
0.00029
|
|
NM_004924.6(ACTN4):c.1279G>A (p.Ala427Thr)
|
rs201128110
|
0.00029
|
|
NM_004937.3(CTNS):c.661G>A (p.Val221Met)
|
rs138270433
|
0.00029
|
|
NM_004959.5(NR5A1):c.1314C>T (p.Tyr438=)
|
rs142188133
|
0.00029
|
|
NM_005045.4(RELN):c.5643G>A (p.Leu1881=)
|
rs141387255
|
0.00029
|
|
NM_005045.4(RELN):c.5796C>T (p.Asn1932=)
|
rs200299096
|
0.00029
|
|
NM_005045.4(RELN):c.8843+3A>C
|
rs200124755
|
0.00029
|
|
NM_005378.6(MYCN):c.710C>T (p.Pro237Leu)
|
rs767711936
|
0.00029
|
|
NM_005422.4(TECTA):c.3743C>T (p.Pro1248Leu)
|
rs138768918
|
0.00029
|
|
NM_005502.4(ABCA1):c.1486C>T (p.Arg496Trp)
|
rs147675550
|
0.00029
|
|
NM_005529.7(HSPG2):c.11496C>T (p.Phe3832=)
|
rs536882233
|
0.00029
|
|
NM_005529.7(HSPG2):c.6870+5dup
|
rs755442255
|
0.00029
|
|
NM_005529.7(HSPG2):c.8899G>A (p.Ala2967Thr)
|
rs143274889
|
0.00029
|
|
NM_005535.3(IL12RB1):c.390C>T (p.Thr130=)
|
rs201723337
|
0.00029
|
|
NM_005802.5(TOPORS):c.2115T>C (p.Thr705=)
|
rs372292364
|
0.00029
|
|
NM_005957.5(MTHFR):c.1719C>T (p.Thr573=)
|
rs149585376
|
0.00029
|
|
NM_005984.5(SLC25A1):c.764A>G (p.Lys255Arg)
|
rs113123350
|
0.00029
|
|
NM_005993.5(TBCD):c.2638A>T (p.Met880Leu)
|
rs199972447
|
0.00029
|
|
NM_006005.3(WFS1):c.1024G>A (p.Ala342Thr)
|
rs148028521
|
0.00029
|
|
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val)
|
rs150368988
|
0.00029
|
|
NM_006005.3(WFS1):c.325C>T (p.His109Tyr)
|
rs112871383
|
0.00029
|
|
NM_006019.4(TCIRG1):c.2163C>T (p.Ile721=)
|
rs145718040
|
0.00029
|
|
NM_006031.6(PCNT):c.4222C>T (p.Arg1408Trp)
|
rs202161810
|
0.00029
|
|
NM_006059.4(LAMC3):c.4415G>A (p.Arg1472Gln)
|
rs137894550
|
0.00029
|
|
NM_006118.4(HAX1):c.428G>C (p.Gly143Ala)
|
rs755031266
|
0.00029
|
|
NM_006265.3(RAD21):c.735C>T (p.Pro245=)
|
rs199767556
|
0.00029
|
|
NM_006348.5(COG5):c.117C>T (p.Asn39=)
|
rs138518242
|
0.00029
|
|
NM_006514.4(SCN10A):c.3482T>C (p.Met1161Thr)
|
rs200713724
|
0.00029
|
|
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His)
|
rs56012641
|
0.00029
|
|
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala)
|
rs41286298
|
0.00029
|
|
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys)
|
rs56187033
|
0.00029
|
|
NM_012144.4(DNAI1):c.1104C>T (p.Tyr368=)
|
rs140711767
|
0.00029
|
|
NM_014026.6(DCPS):c.791G>A (p.Arg264Gln)
|
rs140377449
|
0.00029
|
|
NM_014140.4(SMARCAL1):c.1785C>T (p.Ile595=)
|
rs145825654
|
0.00029
|
|
NM_014140.4(SMARCAL1):c.1948G>A (p.Val650Ile)
|
rs200734842
|
0.00029
|
|
NM_014141.6(CNTNAP2):c.387A>G (p.Gln129=)
|
rs150607716
|
0.00029
|
|
NM_014208.3(DSPP):c.368G>C (p.Gly123Ala)
|
rs199683760
|
0.00029
|
|
NM_014208.3(DSPP):c.777T>C (p.Ser259=)
|
rs377300383
|
0.00029
|
|
NM_014252.4(SLC25A15):c.345C>T (p.Phe115=)
|
rs35434090
|
0.00029
|
|
NM_014290.3(TDRD7):c.622A>G (p.Thr208Ala)
|
rs139706467
|
0.00029
|
|
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu)
|
rs137905181
|
0.00029
|
|
NM_014844.5(TECPR2):c.2021C>T (p.Pro674Leu)
|
rs149022686
|
0.00029
|
|
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn)
|
rs138048706
|
0.00029
|
|
NM_015340.4(LARS2):c.1178C>A (p.Ala393Asp)
|
rs138121304
|
0.00029
|
|
NM_016239.4(MYO15A):c.10121G>A (p.Arg3374His)
|
rs201794696
|
0.00029
|
|
NM_016239.4(MYO15A):c.2045C>T (p.Pro682Leu)
|
rs993096170
|
0.00029
|
|
NM_016729.3(FOLR1):c.157T>C (p.Leu53=)
|
rs143413500
|
0.00029
|
|
NM_017433.5(MYO3A):c.426T>G (p.His142Gln)
|
rs189595832
|
0.00029
|
|
NM_017553.3(INO80):c.1833C>T (p.Phe611=)
|
rs147454171
|
0.00029
|
|
NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg)
|
rs201620755
|
0.00029
|
|
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln)
|
rs202112856
|
0.00029
|
|
NM_017780.4(CHD7):c.4437G>A (p.Gly1479=)
|
rs41265246
|
0.00029
|
|
NM_017780.4(CHD7):c.6250A>G (p.Ser2084Gly)
|
rs201083157
|
0.00029
|
|
NM_017827.4(SARS2):c.17C>T (p.Ala6Val)
|
rs201988841
|
0.00029
|
|
NM_018013.4(SOBP):c.1747T>C (p.Ser583Pro)
|
rs760532040
|
0.00029
|
|
NM_018136.5(ASPM):c.937A>G (p.Ile313Val)
|
rs12025066
|
0.00029
|
|
NM_018249.6(CDK5RAP2):c.2003A>G (p.Tyr668Cys)
|
rs137966123
|
0.00029
|
|
NM_019892.6(INPP5E):c.1191C>T (p.Ile397=)
|
rs558778286
|
0.00029
|
|
NM_020297.4(ABCC9):c.1557G>A (p.Glu519=)
|
rs143346402
|
0.00029
|
|
NM_020297.4(ABCC9):c.2262T>C (p.Tyr754=)
|
rs145561881
|
0.00029
|
|
NM_020297.4(ABCC9):c.305T>C (p.Leu102Pro)
|
rs374659816
|
0.00029
|
|
NM_020366.4(RPGRIP1):c.1920C>T (p.Ala640=)
|
rs368434311
|
0.00029
|
|
NM_020376.4(PNPLA2):c.943C>T (p.Pro315Ser)
|
rs150385364
|
0.00029
|
|
NM_021098.3(CACNA1H):c.4488G>A (p.Ser1496=)
|
rs377112179
|
0.00029
|
|
NM_022042.4(SLC26A1):c.1612C>T (p.Arg538Trp)
|
rs143381873
|
0.00029
|
|
NM_022089.4(ATP13A2):c.1244G>A (p.Arg415Gln)
|
rs190746040
|
0.00029
|
|
NM_022114.4(PRDM16):c.2281G>A (p.Ala761Thr)
|
rs200947814
|
0.00029
|
|
NM_022124.6(CDH23):c.*104G>C
|
rs377312107
|
0.00029
|
|
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val)
|
rs201475055
|
0.00029
|
|
NM_022458.4(LMBR1):c.423+4545T>C
|
rs376183960
|
0.00029
|
|
NM_022464.5(SIL1):c.984C>T (p.Leu328=)
|
rs368666457
|
0.00029
|
|
NM_023036.6(DNAI2):c.828G>A (p.Thr276=)
|
rs149918986
|
0.00029
|
|
NM_023110.3(FGFR1):c.2464C>T (p.Arg822Cys)
|
rs17182463
|
0.00029
|
|
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr)
|
rs561310777
|
0.00029
|
|
NM_024642.5(GALNT12):c.1339G>A (p.Gly447Arg)
|
rs376441206
|
0.00029
|
|
NM_024757.5(EHMT1):c.576G>A (p.Pro192=)
|
rs574514175
|
0.00029
|
|
NM_025137.4(SPG11):c.1775C>T (p.Ser592Leu)
|
rs373796566
|
0.00029
|
|
NM_030632.3(ASXL3):c.2342C>T (p.Pro781Leu)
|
rs201776257
|
0.00029
|
|
NM_031885.5(BBS2):c.-2T>G
|
rs111296910
|
0.00029
|
|
NM_032119.4(ADGRV1):c.7569A>G (p.Thr2523=)
|
rs373352597
|
0.00029
|
|
NM_033109.5(PNPT1):c.1099C>T (p.Leu367Phe)
|
rs142840568
|
0.00029
|
|
NM_033641.4(COL4A6):c.726A>C (p.Pro242=)
|
rs149989161
|
0.00029
|
|
NM_053025.4(MYLK):c.2125G>A (p.Val709Met)
|
rs112537316
|
0.00029
|
|
NM_054027.6(ANKH):c.1021G>A (p.Val341Met)
|
rs199664007
|
0.00029
|
|
NM_080424.4(SP110):c.459G>A (p.Ala153=)
|
rs201957445
|
0.00029
|
|
NM_080605.4(B3GALT6):c.834G>A (p.Thr278=)
|
rs368078922
|
0.00029
|
|
NM_080916.3(DGUOK):c.199G>A (p.Val67Ile)
|
rs62641679
|
0.00029
|
|
NM_130837.3(OPA1):c.921C>T (p.Asp307=)
|
rs147242797
|
0.00029
|
|
NM_133379.5(TTN):c.12204C>T (p.Gly4068=)
|
rs144330952
|
0.00029
|
|
NM_133379.5(TTN):c.13123G>T (p.Ala4375Ser)
|
rs72647902
|
0.00029
|
|
NM_133379.5(TTN):c.13364A>G (p.Lys4455Arg)
|
rs142304137
|
0.00029
|
|
NM_138694.4(PKHD1):c.4266G>A (p.Arg1422=)
|
rs146468152
|
0.00029
|
|
NM_139076.3(ABRAXAS1):c.1056T>G (p.Asp352Glu)
|
rs773812911
|
0.00029
|
|
NM_144573.4(NEXN):c.1788T>G (p.Ser596Arg)
|
rs199738750
|
0.00029
|
|
NM_144997.7(FLCN):c.268G>T (p.Ala90Ser)
|
rs141140415
|
0.00029
|
|
NM_144997.7(FLCN):c.931C>T (p.Pro311Ser)
|
rs140246224
|
0.00029
|
|
NM_145038.5(DRC1):c.1418C>T (p.Ala473Val)
|
rs199574440
|
0.00029
|
|
NM_152564.5(VPS13B):c.3436C>G (p.Leu1146Val)
|
rs202015701
|
0.00029
|
|
NM_152564.5(VPS13B):c.4989C>A (p.Pro1663=)
|
rs142380266
|
0.00029
|
|
NM_152594.3(SPRED1):c.944C>T (p.Pro315Leu)
|
rs115440602
|
0.00029
|
|
NM_152783.5(D2HGDH):c.893C>T (p.Thr298Ile)
|
rs141475702
|
0.00029
|
|
NM_173500.4(TTBK2):c.245G>C (p.Gly82Ala)
|
rs200821440
|
0.00029
|
|
NM_173630.4(RTTN):c.2355T>C (p.Ser785=)
|
rs200600259
|
0.00029
|
|
NM_174936.4(PCSK9):c.399+4A>G
|
rs376653409
|
0.00029
|
|
NM_175614.5(NDUFA11):c.138G>A (p.Pro46=)
|
rs138889960
|
0.00029
|
|
NM_176824.3(BBS7):c.1158A>G (p.Thr386=)
|
rs146617227
|
0.00029
|
|
NM_182760.4(SUMF1):c.602+12C>T
|
rs200971871
|
0.00029
|
|
NM_182914.3(SYNE2):c.18232G>A (p.Ala6078Thr)
|
rs149128439
|
0.00029
|
|
NM_182931.3(KMT2E):c.3875C>T (p.Pro1292Leu)
|
rs144839449
|
0.00029
|
|
NM_182961.4(SYNE1):c.18870C>T (p.Ser6290=)
|
rs138173087
|
0.00029
|
|
NM_182961.4(SYNE1):c.19730G>A (p.Arg6577Gln)
|
rs150387338
|
0.00029
|
|
NM_182961.4(SYNE1):c.24660C>T (p.His8220=)
|
rs150811468
|
0.00029
|
|
NM_199242.3(UNC13D):c.2830+7G>A
|
rs201023196
|
0.00029
|
|
NM_199242.3(UNC13D):c.972C>T (p.Asp324=)
|
rs368990813
|
0.00029
|
|
NM_201384.3(PLEC):c.1977+7G>A
|
rs184363750
|
0.00029
|
|
NM_201384.3(PLEC):c.2736C>G (p.Ala912=)
|
rs558031489
|
0.00029
|
|
NM_201384.3(PLEC):c.3831C>T (p.Asn1277=)
|
rs202217053
|
0.00029
|
|
NM_201384.3(PLEC):c.4524G>A (p.Gln1508=)
|
rs370168097
|
0.00029
|
|
NM_201384.3(PLEC):c.6062C>T (p.Ala2021Val)
|
rs367715805
|
0.00029
|
|
NM_201525.4(ADGRG1):c.97C>T (p.Arg33Cys)
|
rs776480483
|
0.00029
|
|
NM_206933.4(USH2A):c.15364T>C (p.Cys5122Arg)
|
rs111033402
|
0.00029
|
|
NM_000038.6(APC):c.2593C>T (p.Pro865Ser)
|
rs192620988
|
0.00028
|
|
NM_000049.4(ASPA):c.832G>A (p.Val278Met)
|
rs140581464
|
0.00028
|
|
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser)
|
rs146531614
|
0.00028
|
|
NM_000093.5(COL5A1):c.3474+7C>T
|
rs550497696
|
0.00028
|
|
NM_000098.3(CPT2):c.500G>A (p.Arg167Gln)
|
rs144760921
|
0.00028
|
|
NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile)
|
rs140537304
|
0.00028
|
|
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser)
|
rs121917716
|
0.00028
|
|
NM_000170.3(GLDC):c.2874C>T (p.Ser958=)
|
rs146339375
|
0.00028
|
|
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser)
|
rs142254875
|
0.00028
|
|
NM_000222.3(KIT):c.1594G>A (p.Val532Ile)
|
rs55792975
|
0.00028
|
|
NM_000233.4(LHCGR):c.561A>G (p.Glu187=)
|
rs369601921
|
0.00028
|
|
NM_000238.4(KCNH2):c.2707G>A (p.Gly903Arg)
|
rs199473669
|
0.00028
|
|
NM_000260.4(MYO7A):c.5495G>A (p.Arg1832Gln)
|
rs372768607
|
0.00028
|
|
NM_000275.3(OCA2):c.45G>A (p.Pro15=)
|
rs202091837
|
0.00028
|
|
NM_000350.3(ABCA4):c.2744-5C>T
|
rs76305791
|
0.00028
|
|
NM_000350.3(ABCA4):c.294C>G (p.Asn98Lys)
|
rs145133167
|
0.00028
|
|
NM_000360.4(TH):c.67G>A (p.Ala23Thr)
|
rs201081519
|
0.00028
|
|
NM_000404.4(GLB1):c.31C>G (p.Leu11Val)
|
rs77988381
|
0.00028
|
|
NM_000426.4(LAMA2):c.3244C>T (p.His1082Tyr)
|
rs146490004
|
0.00028
|
|
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met)
|
rs141650598
|
0.00028
|
|
NM_000466.3(PEX1):c.3106G>T (p.Ala1036Ser)
|
rs754130942
|
0.00028
|
|
NM_000492.4(CFTR):c.1584+12T>C
|
rs193922502
|
0.00028
|
|
NM_000507.4(FBP1):c.730C>T (p.Arg244Trp)
|
rs200679026
|
0.00028
|
|
NM_000527.5(LDLR):c.940+16G>A
|
rs72658859
|
0.00028
|
|
NM_000546.5(TP53):c.319T>C (p.Tyr107His)
|
rs368771578
|
0.00028
|
|
NM_000553.6(WRN):c.3259A>G (p.Lys1087Glu)
|
rs374154973
|
0.00028
|
|
NM_000843.4(GRM6):c.1455C>T (p.Gly485=)
|
rs149519053
|
0.00028
|
|
NM_001005361.3(DNM2):c.645C>T (p.Asp215=)
|
rs148900299
|
0.00028
|
|
NM_001035.3(RYR2):c.10231-5C>T
|
rs186326951
|
0.00028
|
|
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys)
|
rs571985775
|
0.00028
|
|
NM_001039141.3(TRIOBP):c.483G>A (p.Glu161=)
|
rs368119524
|
0.00028
|
|
NM_001039876.3(SYNE4):c.638C>T (p.Thr213Met)
|
rs199916743
|
0.00028
|
|
NM_001042517.2(DIAPH3):c.1808G>A (p.Arg603Gln)
|
rs200231889
|
0.00028
|
|
NM_001105206.3(LAMA4):c.4436G>A (p.Arg1479His)
|
rs140346737
|
0.00028
|
|
NM_001110556.2(FLNA):c.2178C>T (p.Asn726=)
|
rs371501734
|
0.00028
|
|
NM_001110556.2(FLNA):c.5313+4C>T
|
rs377330443
|
0.00028
|
|
NM_001127644.2(GABRA1):c.441G>T (p.Arg147=)
|
rs190024862
|
0.00028
|
|
NM_001128228.3(TPRN):c.1094A>G (p.Gln365Arg)
|
rs780953179
|
0.00028
|
|
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=)
|
rs34654141
|
0.00028
|
|
NM_001130438.3(SPTAN1):c.3042T>G (p.Gly1014=)
|
rs150870424
|
0.00028
|
|
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=)
|
rs148697028
|
0.00028
|
|
NM_001134363.3(RBM20):c.1378T>C (p.Leu460=)
|
rs374014662
|
0.00028
|
|
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser)
|
rs727503392
|
0.00028
|
|
NM_001145809.2(MYH14):c.838G>A (p.Val280Ile)
|
rs202246093
|
0.00028
|
|
NM_001148.6(ANK2):c.1910C>T (p.Ala637Val)
|
rs150488571
|
0.00028
|
|
NM_001164508.2(NEB):c.20853C>T (p.Ile6951=)
|
rs199730497
|
0.00028
|
|
NM_001164508.2(NEB):c.21838G>A (p.Asp7280Asn)
|
rs200945025
|
0.00028
|
|
NM_001193315.2(VIPAS39):c.504+9A>G
|
rs371762531
|
0.00028
|
|
NM_001194998.2(CEP152):c.3839A>G (p.Asp1280Gly)
|
rs539483307
|
0.00028
|
|
NM_001199799.2(ILDR1):c.1159T>C (p.Ser387Pro)
|
rs150250182
|
0.00028
|
|
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu)
|
rs185962498
|
0.00028
|
|
NM_001267550.2(TTN):c.21993T>C (p.Pro7331=)
|
rs373223049
|
0.00028
|
|
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile)
|
rs202160275
|
0.00028
|
|
NM_001267550.2(TTN):c.40903G>A (p.Ala13635Thr)
|
rs191699632
|
0.00028
|
|
NM_001267550.2(TTN):c.4359A>T (p.Arg1453Ser)
|
rs376857956
|
0.00028
|
|
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=)
|
rs72677223
|
0.00028
|
|
NM_001267550.2(TTN):c.53226T>C (p.Tyr17742=)
|
rs202200861
|
0.00028
|
|
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala)
|
rs200689750
|
0.00028
|
|
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr)
|
rs146941600
|
0.00028
|
|
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=)
|
rs368686031
|
0.00028
|
|
NM_001277115.2(DNAH11):c.8973G>A (p.Thr2991=)
|
rs200978576
|
0.00028
|
|
NM_001278116.2(L1CAM):c.3192G>T (p.Ser1064=)
|
rs142563956
|
0.00028
|
|
NM_001287491.2(TET3):c.1307C>T (p.Ala436Val)
|
rs201500476
|
0.00028
|
|
NM_001291867.2(NHS):c.513C>T (p.Leu171=)
|
rs398124610
|
0.00028
|
|
NM_001354712.2(THRB):c.11A>G (p.Asn4Ser)
|
rs114070375
|
0.00028
|
|
NM_001355436.2(SPTB):c.2480G>A (p.Arg827Gln)
|
rs150013838
|
0.00028
|
|
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg)
|
rs146700772
|
0.00028
|
|
NM_001365088.1(SLC12A6):c.2106T>C (p.Tyr702=)
|
rs145775351
|
0.00028
|
|
NM_001365276.2(TNXB):c.3277G>A (p.Val1093Met)
|
rs200432719
|
0.00028
|
|
NM_001365951.3(KIF1B):c.2115+6313G>A
|
rs374263753
|
0.00028
|
|
NM_001371986.1(UNC80):c.691G>A (p.Ala231Thr)
|
rs144011305
|
0.00028
|
|
NM_001374504.1(TMPRSS6):c.361C>T (p.Arg121Cys)
|
rs145073875
|
0.00028
|
|
NM_001378454.1(ALMS1):c.861C>T (p.Asp287=)
|
rs377281121
|
0.00028
|
|
NM_001384474.1(LOXHD1):c.4824C>G (p.Val1608=)
|
rs114557260
|
0.00028
|
|
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu)
|
rs144600401
|
0.00028
|
|
NM_001386795.1(DTNA):c.2108G>A (p.Arg703Gln)
|
rs142009291
|
0.00028
|
|
NM_001626.6(AKT2):c.212A>G (p.Asn71Ser)
|
rs200272953
|
0.00028
|
|
NM_001737.5(C9):c.1585G>A (p.Ala529Thr)
|
rs137891079
|
0.00028
|
|
NM_001754.5(RUNX1):c.155T>A (p.Met52Lys)
|
rs200431130
|
0.00028
|
|
NM_001845.6(COL4A1):c.367C>T (p.Pro123Ser)
|
rs138503916
|
0.00028
|
|
NM_001853.4(COL9A3):c.1756A>C (p.Thr586Pro)
|
rs145821912
|
0.00028
|
|
NM_002076.4(GNS):c.1434C>G (p.Val478=)
|
rs141958901
|
0.00028
|
|
NM_002437.5(MPV17):c.156G>A (p.Leu52=)
|
rs142493907
|
0.00028
|
|
NM_002439.5(MSH3):c.2262A>G (p.Ile754Met)
|
rs200819607
|
0.00028
|
|
NM_002471.4(MYH6):c.2401A>G (p.Ile801Val)
|
rs75487328
|
0.00028
|
|
NM_002474.3(MYH11):c.2075C>T (p.Ala692Val)
|
rs148893135
|
0.00028
|
|
NM_003738.5(PTCH2):c.2902G>A (p.Val968Ile)
|
rs200873074
|
0.00028
|
|
NM_004281.4(BAG3):c.771C>T (p.Pro257=)
|
rs200212999
|
0.00028
|
|
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr)
|
rs142822590
|
0.00028
|
|
NM_004369.4(COL6A3):c.1623C>T (p.Ala541=)
|
rs114144694
|
0.00028
|
|
NM_004614.5(TK2):c.80C>T (p.Ser27Leu)
|
rs191573607
|
0.00028
|
|
NM_004629.2(FANCG):c.1545C>T (p.Ala515=)
|
rs201422773
|
0.00028
|
|
NM_005378.6(MYCN):c.658G>T (p.Ala220Ser)
|
rs745414155
|
0.00028
|
|
NM_005529.7(HSPG2):c.8961C>T (p.Gly2987=)
|
rs369899077
|
0.00028
|
|
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln)
|
rs71539657
|
0.00028
|
|
NM_006031.6(PCNT):c.2154G>A (p.Lys718=)
|
rs147878958
|
0.00028
|
|
NM_006031.6(PCNT):c.688C>T (p.Arg230Cys)
|
rs143560718
|
0.00028
|
|
NM_006231.4(POLE):c.2510T>C (p.Phe837Ser)
|
rs139182500
|
0.00028
|
|
NM_006420.3(ARFGEF2):c.2686-16C>A
|
rs370562126
|
0.00028
|
|
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu)
|
rs56307355
|
0.00028
|
|
NM_006946.4(SPTBN2):c.6242G>A (p.Arg2081Gln)
|
rs764407421
|
0.00028
|
|
NM_006947.4(SRP72):c.406G>A (p.Val136Ile)
|
rs145817936
|
0.00028
|
|
NM_007215.4(POLG2):c.590T>C (p.Leu197Pro)
|
rs139282177
|
0.00028
|
|
NM_007294.4(BRCA1):c.548-17G>T
|
rs80358014
|
0.00028
|
|
NM_012282.4(KCNE5):c.55G>T (p.Glu19Ter)
|
rs374389286
|
0.00028
|
|
NM_012434.5(SLC17A5):c.1432G>A (p.Ala478Thr)
|
rs141341430
|
0.00028
|
|
NM_014014.5(SNRNP200):c.6082A>G (p.Ser2028Gly)
|
rs766856664
|
0.00028
|
|
NM_014639.4(SKIC3):c.3488T>A (p.Leu1163His)
|
rs529911259
|
0.00028
|
|
NM_014704.4(CEP104):c.550G>C (p.Glu184Gln)
|
rs146922115
|
0.00028
|
|
NM_015102.5(NPHP4):c.138C>T (p.Gly46=)
|
rs201069164
|
0.00028
|
|
NM_015102.5(NPHP4):c.3705C>T (p.Arg1235=)
|
rs199925943
|
0.00028
|
|
NM_015275.3(WASHC4):c.2159A>G (p.Asn720Ser)
|
rs113419458
|
0.00028
|
|
NM_015330.6(SPECC1L):c.2003C>T (p.Thr668Met)
|
rs143004795
|
0.00028
|
|
NM_016239.4(MYO15A):c.4096G>A (p.Asp1366Asn)
|
rs368603235
|
0.00028
|
|
NM_017841.4(SDHAF2):c.97C>T (p.Arg33Cys)
|
rs144867876
|
0.00028
|
|
NM_018718.3(CEP41):c.422+7G>A
|
rs190680511
|
0.00028
|
|
NM_020778.5(ALPK3):c.1738G>A (p.Gly580Arg)
|
rs143892088
|
0.00028
|
|
NM_022042.4(SLC26A1):c.153G>C (p.Gln51His)
|
rs200471470
|
0.00028
|
|
NM_022124.6(CDH23):c.8886C>T (p.Asn2962=)
|
rs376881824
|
0.00028
|
|
NM_022455.5(NSD1):c.2696T>C (p.Ile899Thr)
|
rs142703625
|
0.00028
|
|
NM_022464.5(SIL1):c.1167C>T (p.Pro389=)
|
rs199890503
|
0.00028
|
|
NM_025099.6(CTC1):c.2828C>T (p.Pro943Leu)
|
rs376216833
|
0.00028
|
|
NM_030662.4(MAP2K2):c.-4C>G
|
rs747742961
|
0.00028
|
|
NM_032415.7(CARD11):c.2920C>T (p.Arg974Cys)
|
rs201847585
|
0.00028
|
|
NM_033305.3(VPS13A):c.1528C>T (p.Leu510=)
|
rs147954757
|
0.00028
|
|
NM_053025.4(MYLK):c.5114+8G>A
|
rs202229368
|
0.00028
|
|
NM_130837.3(OPA1):c.2088G>A (p.Ala696=)
|
rs138114609
|
0.00028
|
|
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His)
|
rs80358359
|
0.00028
|
|
NM_138694.4(PKHD1):c.5235C>T (p.Phe1745=)
|
rs187667255
|
0.00028
|
|
NM_139076.3(ABRAXAS1):c.125A>G (p.Lys42Arg)
|
rs201948472
|
0.00028
|
|
NM_144573.4(NEXN):c.242A>T (p.Asp81Val)
|
rs367871780
|
0.00028
|
|
NM_144997.7(FLCN):c.1149C>T (p.Leu383=)
|
rs150752548
|
0.00028
|
|
NM_152564.5(VPS13B):c.2356A>G (p.Ile786Val)
|
rs202052403
|
0.00028
|
|
NM_152743.4(BRAT1):c.1594G>A (p.Gly532Arg)
|
rs142129866
|
0.00028
|
|
NM_170707.4(LMNA):c.192C>T (p.Thr64=)
|
rs137969290
|
0.00028
|
|
NM_173500.4(TTBK2):c.1949C>T (p.Ala650Val)
|
rs369045579
|
0.00028
|
|
NM_182943.3(PLOD2):c.1451G>A (p.Arg484His)
|
rs142909885
|
0.00028
|
|
NM_201384.3(PLEC):c.11036C>T (p.Ala3679Val)
|
rs200060757
|
0.00028
|
|
NM_206933.4(USH2A):c.5131G>A (p.Ala1711Thr)
|
rs535796173
|
0.00028
|
|
NM_206933.4(USH2A):c.9307A>G (p.Ile3103Val)
|
rs143352618
|
0.00028
|
|
NM_207346.3(TSEN54):c.984T>C (p.Ala328=)
|
rs776960594
|
0.00028
|
|
NM_207361.6(FREM2):c.8337C>T (p.Ser2779=)
|
rs181564966
|
0.00028
|
|
NM_000023.4(SGCA):c.662G>A (p.Arg221His)
|
rs138254713
|
0.00027
|
|
NM_000069.3(CACNA1S):c.4114-3C>T
|
rs182873269
|
0.00027
|
|
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr)
|
rs149722210
|
0.00027
|
|
NM_000113.3(TOR1A):c.361G>A (p.Glu121Lys)
|
rs199535970
|
0.00027
|
|
NM_000123.4(ERCC5):c.2800G>A (p.Glu934Lys)
|
rs201274165
|
0.00027
|
|
NM_000158.4(GBE1):c.990C>T (p.Ser330=)
|
rs371194644
|
0.00027
|
|
NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg)
|
rs199875457
|
0.00027
|
|
NM_000179.3(MSH6):c.-18G>T
|
rs199913053
|
0.00027
|
|
NM_000211.5(ITGB2):c.1877+12C>T
|
rs200144784
|
0.00027
|
|
NM_000219.6(KCNE1):c.374C>T (p.Thr125Met)
|
rs142511345
|
0.00027
|
|
NM_000260.4(MYO7A):c.758A>G (p.His253Arg)
|
rs375200566
|
0.00027
|
|
NM_000271.5(NPC1):c.1011G>T (p.Arg337=)
|
rs147795644
|
0.00027
|
|
NM_000318.3(PEX2):c.447T>G (p.Gly149=)
|
rs375401977
|
0.00027
|
|
NM_000335.5(SCN5A):c.3837+8T>C
|
rs372405305
|
0.00027
|
|
NM_000384.3(APOB):c.9883T>C (p.Tyr3295His)
|
rs186299244
|
0.00027
|
|
NM_000388.4(CASR):c.1110G>A (p.Val370=)
|
rs150412204
|
0.00027
|
|
NM_000443.4(ABCB4):c.3402C>T (p.Asp1134=)
|
rs371394487
|
0.00027
|
|
NM_000455.5(STK11):c.*8C>T
|
rs587782259
|
0.00027
|
|
NM_000518.5(HBB):c.316-19T>A
|
rs191535077
|
0.00027
|
|
NM_000520.6(HEXA):c.1073+41C>T
|
rs367719010
|
0.00027
|
|
NM_000642.3(AGL):c.4450G>A (p.Val1484Ile)
|
rs75076115
|
0.00027
|
|
NM_000784.4(CYP27A1):c.148G>A (p.Val50Ile)
|
rs149101812
|
0.00027
|
|
NM_001040142.2(SCN2A):c.1402_1404del (p.Ser468del)
|
rs780584405
|
0.00027
|
|
NM_001079866.2(BCS1L):c.64C>T (p.Leu22=)
|
rs777854606
|
0.00027
|
|
NM_001099922.3(ALG13):c.2975G>A (p.Cys992Tyr)
|
rs190790872
|
0.00027
|
|
NM_001102401.4(TTI2):c.1274T>G (p.Leu425Arg)
|
rs3736497
|
0.00027
|
|
NM_001103.4(ACTN2):c.1484C>T (p.Thr495Met)
|
rs200248944
|
0.00027
|
|
NM_001126108.2(SLC12A3):c.742-6C>T
|
rs370741134
|
0.00027
|
|
NM_001127649.3(PEX26):c.318C>G (p.Val106=)
|
rs142072315
|
0.00027
|
|
NM_001145809.2(MYH14):c.820A>G (p.Ile274Val)
|
rs200424400
|
0.00027
|
|
NM_001148.6(ANK2):c.8843C>G (p.Ala2948Gly)
|
rs138438183
|
0.00027
|
|
NM_001164508.2(NEB):c.24453G>A (p.Glu8151=)
|
rs372540293
|
0.00027
|
|
NM_001164508.2(NEB):c.8024A>G (p.Asp2675Gly)
|
rs183354017
|
0.00027
|
|
NM_001267550.2(TTN):c.102696C>T (p.Val34232=)
|
rs202180775
|
0.00027
|
|
NM_001267550.2(TTN):c.20792A>G (p.Asn6931Ser)
|
rs200866883
|
0.00027
|
|
NM_001267550.2(TTN):c.33172+4G>A
|
rs756475184
|
0.00027
|
|
NM_001267550.2(TTN):c.41330-7T>A
|
rs373636988
|
0.00027
|
|
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala)
|
rs34706299
|
0.00027
|
|
NM_001267550.2(TTN):c.4262G>A (p.Arg1421Gln)
|
rs147254212
|
0.00027
|
|
NM_001267550.2(TTN):c.57646A>G (p.Ile19216Val)
|
rs374058726
|
0.00027
|
|
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr)
|
rs202012910
|
0.00027
|
|
NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr)
|
rs183276016
|
0.00027
|
|
NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln)
|
rs201958805
|
0.00027
|
|
NM_001330260.2(SCN8A):c.4748T>C (p.Ile1583Thr)
|
rs201458257
|
0.00027
|
|
NM_001355436.2(SPTB):c.1577C>T (p.Thr526Ile)
|
rs145315673
|
0.00027
|
|
NM_001360.3(DHCR7):c.139C>T (p.Leu47=)
|
rs140721259
|
0.00027
|
|
NM_001370466.1(NOD2):c.760C>T (p.Leu254Phe)
|
rs756943416
|
0.00027
|
|
NM_001375834.1(WIPF1):c.1380C>T (p.Ser460=)
|
rs753915750
|
0.00027
|
|
NM_001384474.1(LOXHD1):c.4031G>T (p.Cys1344Phe)
|
rs368870055
|
0.00027
|
|
NM_001384732.1(CPLANE1):c.3381G>C (p.Ser1127=)
|
rs566190241
|
0.00027
|
|
NM_001457.4(FLNB):c.6193G>A (p.Val2065Met)
|
rs371167931
|
0.00027
|
|
NM_001853.4(COL9A3):c.1563C>T (p.Ser521=)
|
rs144292707
|
0.00027
|
|
NM_001875.5(CPS1):c.2275T>A (p.Ser759Thr)
|
rs150012540
|
0.00027
|
|
NM_001985.3(ETFB):c.709G>A (p.Val237Ile)
|
rs149129214
|
0.00027
|
|
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln)
|
rs56679084
|
0.00027
|
|
NM_002292.4(LAMB2):c.5142G>A (p.Lys1714=)
|
rs139511264
|
0.00027
|
|
NM_002471.4(MYH6):c.3199A>G (p.Ser1067Gly)
|
rs145508517
|
0.00027
|
|
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)
|
rs104895032
|
0.00027
|
|
NM_002529.4(NTRK1):c.575G>C (p.Gly192Ala)
|
rs201185829
|
0.00027
|
|
NM_002691.4(POLD1):c.1795G>A (p.Ala599Thr)
|
rs149569984
|
0.00027
|
|
NM_002693.3(POLG):c.391T>C (p.Tyr131His)
|
rs562847013
|
0.00027
|
|
NM_003042.4(SLC6A1):c.1527G>A (p.Ala509=)
|
rs34969656
|
0.00027
|
|
NM_003283.6(TNNT1):c.-12+15G>A
|
rs539247551
|
0.00027
|
|
NM_003331.5(TYK2):c.1141C>T (p.Arg381Trp)
|
rs201240289
|
0.00027
|
|
NM_003611.3(OFD1):c.54A>G (p.Glu18=)
|
rs147114577
|
0.00027
|
|
NM_003664.5(AP3B1):c.303C>T (p.Tyr101=)
|
rs115747826
|
0.00027
|
|
NM_003849.4(SUCLG1):c.345T>C (p.Ala115=)
|
rs374594774
|
0.00027
|
|
NM_004239.4(TRIP11):c.202-11T>G
|
rs561503305
|
0.00027
|
|
NM_004304.5(ALK):c.4646G>T (p.Arg1549Ile)
|
rs199646095
|
0.00027
|
|
NM_004360.5(CDH1):c.303C>T (p.Tyr101=)
|
rs150789339
|
0.00027
|
|
NM_004369.4(COL6A3):c.7029+10C>T
|
rs376525317
|
0.00027
|
|
NM_004525.3(LRP2):c.10880G>T (p.Ser3627Ile)
|
rs138660534
|
0.00027
|
|
NM_004646.4(NPHS1):c.1610C>T (p.Thr537Met)
|
rs368913905
|
0.00027
|
|
NM_004656.4(BAP1):c.1330A>G (p.Thr444Ala)
|
rs374746213
|
0.00027
|
|
NM_005236.3(ERCC4):c.211T>C (p.Tyr71His)
|
rs145315496
|
0.00027
|
|
NM_005357.4(LIPE):c.3040G>A (p.Val1014Met)
|
rs193061079
|
0.00027
|
|
NM_005529.7(HSPG2):c.8576C>T (p.Thr2859Met)
|
rs139855779
|
0.00027
|
|
NM_005559.4(LAMA1):c.6845T>C (p.Ile2282Thr)
|
rs146148365
|
0.00027
|
|
NM_006031.6(PCNT):c.9099+14G>A
|
rs370266308
|
0.00027
|
|
NM_006258.4(PRKG1):c.1466A>T (p.Tyr489Phe)
|
rs149710600
|
0.00027
|
|
NM_006279.5(ST3GAL3):c.1079G>A (p.Arg360Gln)
|
rs553120567
|
0.00027
|
|
NM_006348.5(COG5):c.2401T>C (p.Ser801Pro)
|
rs141942249
|
0.00027
|
|
NM_006420.3(ARFGEF2):c.2814+15G>C
|
rs370805254
|
0.00027
|
|
NM_006432.5(NPC2):c.450T>C (p.His150=)
|
rs374489111
|
0.00027
|
|
NM_006445.4(PRPF8):c.5506T>C (p.Leu1836=)
|
rs147958141
|
0.00027
|
|
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His)
|
rs544216926
|
0.00027
|
|
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met)
|
rs200451612
|
0.00027
|
|
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu)
|
rs28897688
|
0.00027
|
|
NM_007374.3(SIX6):c.636G>C (p.Thr212=)
|
rs140601427
|
0.00027
|
|
NM_013314.4(BLNK):c.205-15C>T
|
rs199854336
|
0.00027
|
|
NM_013382.7(POMT2):c.66C>T (p.Gly22=)
|
rs200670377
|
0.00027
|
|
NM_014049.5(ACAD9):c.1666A>G (p.Ile556Val)
|
rs374356084
|
0.00027
|
|
NM_014319.5(LEMD3):c.1330C>G (p.Pro444Ala)
|
rs144127577
|
0.00027
|
|
NM_014915.3(ANKRD26):c.1970A>T (p.Asp657Val)
|
rs193178384
|
0.00027
|
|
NM_015378.4(VPS13D):c.1728A>G (p.Gln576=)
|
rs142087616
|
0.00027
|
|
NM_015450.3(POT1):c.340A>G (p.Ile114Val)
|
rs146552802
|
0.00027
|
|
NM_018136.5(ASPM):c.8966A>G (p.Tyr2989Cys)
|
rs149690383
|
0.00027
|
|
NM_020191.4(MRPS22):c.171C>T (p.Ala57=)
|
rs150629747
|
0.00027
|
|
NM_020207.7(ERCC6L2):c.379C>G (p.Gln127Glu)
|
rs146075543
|
0.00027
|
|
NM_020247.5(COQ8A):c.62C>T (p.Ala21Val)
|
rs142184584
|
0.00027
|
|
NM_020312.4(COQ9):c.467G>A (p.Arg156Gln)
|
rs201097286
|
0.00027
|
|
NM_020381.4(PDSS2):c.1046G>A (p.Arg349Gln)
|
rs201388841
|
0.00027
|
|
NM_020937.4(FANCM):c.4366C>T (p.Arg1456Cys)
|
rs200360968
|
0.00027
|
|
NM_021098.3(CACNA1H):c.4714C>T (p.Arg1572Trp)
|
rs199693105
|
0.00027
|
|
NM_021729.6(VPS11):c.1023C>T (p.Tyr341=)
|
rs199758476
|
0.00027
|
|
NM_022124.6(CDH23):c.3301A>G (p.Ile1101Val)
|
rs199510686
|
0.00027
|
|
NM_022124.6(CDH23):c.3895G>A (p.Val1299Ile)
|
rs201610096
|
0.00027
|
|
NM_022124.6(CDH23):c.5831T>C (p.Leu1944Ser)
|
rs201876362
|
0.00027
|
|
NM_022356.4(P3H1):c.693G>A (p.Ala231=)
|
rs149113630
|
0.00027
|
|
NM_022552.5(DNMT3A):c.1385C>T (p.Ala462Val)
|
rs200845575
|
0.00027
|
|
NM_024747.6(HPS6):c.-5G>A
|
rs376684120
|
0.00027
|
|
NM_024996.7(GFM1):c.1457C>T (p.Thr486Ile)
|
rs199976922
|
0.00027
|
|
NM_025009.5(CEP135):c.993A>T (p.Arg331Ser)
|
rs140748251
|
0.00027
|
|
NM_030665.4(RAI1):c.4043C>T (p.Ala1348Val)
|
rs143396390
|
0.00027
|
|
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr)
|
rs367610893
|
0.00027
|
|
NM_032119.4(ADGRV1):c.13358A>G (p.His4453Arg)
|
rs200212083
|
0.00027
|
|
NM_032119.4(ADGRV1):c.3022+8T>C
|
rs375286987
|
0.00027
|
|
NM_033380.3(COL4A5):c.3023A>G (p.Lys1008Arg)
|
rs142929745
|
0.00027
|
|
NM_133642.5(LARGE1):c.391G>A (p.Val131Ile)
|
rs56239539
|
0.00027
|
|
NM_139319.3(SLC17A8):c.310G>A (p.Val104Ile)
|
rs373954823
|
0.00027
|
|
NM_144687.4(NLRP12):c.779C>T (p.Thr260Met)
|
rs150280940
|
0.00027
|
|
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile)
|
rs201963516
|
0.00027
|
|
NM_181426.2(CCDC39):c.2557C>T (p.Arg853Cys)
|
rs201097154
|
0.00027
|
|
NM_182961.4(SYNE1):c.7435A>G (p.Lys2479Glu)
|
rs188146577
|
0.00027
|
|
NM_194248.3(OTOF):c.3939G>A (p.Ala1313=)
|
rs149566576
|
0.00027
|
|
NM_198578.4(LRRK2):c.4536+3A>G
|
rs41286476
|
0.00027
|
|
NM_198994.3(TGM6):c.38G>A (p.Arg13Gln)
|
rs201694328
|
0.00027
|
|
NM_201384.3(PLEC):c.10499G>A (p.Arg3500His)
|
rs201387815
|
0.00027
|
|
NM_201384.3(PLEC):c.5487C>T (p.Ala1829=)
|
rs781998103
|
0.00027
|
|
NC_000001.11:g.179576028G>A
|
rs553068590
|
0.00026
|
|
NM_000018.4(ACADVL):c.1533-4T>A
|
rs369986567
|
0.00026
|
|
NM_000037.4(ANK1):c.876G>A (p.Leu292=)
|
rs373060967
|
0.00026
|
|
NM_000038.6(APC):c.8266A>G (p.Ile2756Val)
|
rs146115809
|
0.00026
|
|
NM_000043.6(FAS):c.578A>G (p.Lys193Arg)
|
rs150489856
|
0.00026
|
|
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)
|
rs35963548
|
0.00026
|
|
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn)
|
rs148993589
|
0.00026
|
|
NM_000053.4(ATP7B):c.3368C>T (p.Pro1123Leu)
|
rs146623472
|
0.00026
|
|
NM_000057.4(BLM):c.191A>T (p.Asp64Val)
|
rs140382474
|
0.00026
|
|
NM_000059.4(BRCA2):c.1395A>C (p.Val465=)
|
rs11571641
|
0.00026
|
|
NM_000059.4(BRCA2):c.2412A>G (p.Glu804=)
|
rs587780866
|
0.00026
|
|
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=)
|
rs80359788
|
0.00026
|
|
NM_000059.4(BRCA2):c.4686A>G (p.Gln1562=)
|
rs28897730
|
0.00026
|
|
NM_000059.4(BRCA2):c.4813G>A (p.Val1605Ile)
|
rs786201175
|
0.00026
|
|
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val)
|
rs56272235
|
0.00026
|
|
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His)
|
rs41293521
|
0.00026
|
|
NM_000077.5(CDKN2A):c.318G>A (p.Val106=)
|
rs199888003
|
0.00026
|
|
NM_000080.4(CHRNE):c.23T>C (p.Val8Ala)
|
rs199807050
|
0.00026
|
|
NM_000081.4(LYST):c.6487G>A (p.Ala2163Thr)
|
rs201513511
|
0.00026
|
|
NM_000081.4(LYST):c.7368T>C (p.Asn2456=)
|
rs199631995
|
0.00026
|
|
NM_000091.5(COL4A3):c.2848G>A (p.Val950Ile)
|
rs200044988
|
0.00026
|
|
NM_000092.5(COL4A4):c.2629C>T (p.Arg877Trp)
|
rs55948916
|
0.00026
|
|
NM_000094.4(COL7A1):c.1348C>T (p.Arg450Cys)
|
rs139434755
|
0.00026
|
|
NM_000094.4(COL7A1):c.7124T>A (p.Val2375Asp)
|
rs142059751
|
0.00026
|
|
NM_000096.4(CP):c.2565C>T (p.Leu855=)
|
rs781672409
|
0.00026
|
|
NM_000117.3(EMD):c.646G>A (p.Gly216Arg)
|
rs147920229
|
0.00026
|
|
NM_000124.4(ERCC6):c.3187G>A (p.Val1063Ile)
|
rs148475034
|
0.00026
|
|
NM_000130.5(F5):c.996A>C (p.Lys332Asn)
|
rs143509841
|
0.00026
|
|
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val)
|
rs138248569
|
0.00026
|
|
NM_000138.5(FBN1):c.4443C>T (p.Ser1481=)
|
rs145040593
|
0.00026
|
|
NM_000138.5(FBN1):c.5423-4G>A
|
rs377036485
|
0.00026
|
|
NM_000152.5(GAA):c.119G>A (p.Arg40Gln)
|
rs374476196
|
0.00026
|
|
NM_000152.5(GAA):c.2332-10C>G
|
rs373606162
|
0.00026
|
|
NM_000152.5(GAA):c.2736G>A (p.Ala912=)
|
rs142472738
|
0.00026
|
|
NM_000152.5(GAA):c.32G>A (p.Arg11Gln)
|
rs138812846
|
0.00026
|
|
NM_000154.2(GALK1):c.-22T>C
|
rs545362817
|
0.00026
|
|
NM_000179.3(MSH6):c.4002-10T>A
|
rs545466048
|
0.00026
|
|
NM_000215.4(JAK3):c.187A>G (p.Ile63Val)
|
rs144405201
|
0.00026
|
|
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp)
|
rs138498207
|
0.00026
|
|
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln)
|
rs397515922
|
0.00026
|
|
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn)
|
rs373147966
|
0.00026
|
|
NM_000282.4(PCCA):c.660C>T (p.Ala220=)
|
rs145826296
|
0.00026
|
|
NM_000287.4(PEX6):c.1884+3G>A
|
rs377041406
|
0.00026
|
|
NM_000287.4(PEX6):c.306G>T (p.Ala102=)
|
rs727504083
|
0.00026
|
|
NM_000295.5(SERPINA1):c.171C>T (p.Phe57=)
|
rs150784949
|
0.00026
|
|
NM_000317.3(PTS):c.195T>C (p.Pro65=)
|
rs143472856
|
0.00026
|
|
NM_000327.4(ROM1):c.512G>A (p.Arg171His)
|
rs150926409
|
0.00026
|
|
NM_000334.4(SCN4A):c.2955C>T (p.Pro985=)
|
rs375621334
|
0.00026
|
|
NM_000334.4(SCN4A):c.4048G>A (p.Val1350Met)
|
rs200274258
|
0.00026
|
|
NM_000335.5(SCN5A):c.5870G>A (p.Arg1957Gln)
|
rs199473331
|
0.00026
|
|
NM_000341.4(SLC3A1):c.1473C>T (p.Ala491=)
|
rs144065614
|
0.00026
|
|
NM_000342.4(SLC4A1):c.1151G>A (p.Arg384His)
|
rs13306776
|
0.00026
|
|
NM_000352.6(ABCC8):c.3111C>T (p.Thr1037=)
|
rs201662945
|
0.00026
|
|
NM_000355.4(TCN2):c.903C>T (p.Tyr301=)
|
rs146036025
|
0.00026
|
|
NM_000360.4(TH):c.594G>T (p.Val198=)
|
rs544661832
|
0.00026
|
|
NM_000391.4(TPP1):c.319G>A (p.Gly107Arg)
|
rs201613668
|
0.00026
|
|
NM_000392.5(ABCC2):c.3057G>C (p.Gln1019His)
|
rs144521346
|
0.00026
|
|
NM_000393.5(COL5A2):c.322+8T>C
|
rs372227642
|
0.00026
|
|
NM_000393.5(COL5A2):c.75A>G (p.Lys25=)
|
rs549894501
|
0.00026
|
|
NM_000419.5(ITGA2B):c.2449-11C>T
|
rs201702898
|
0.00026
|
|
NM_000426.4(LAMA2):c.5509G>A (p.Asp1837Asn)
|
rs749423866
|
0.00026
|
|
NM_000426.4(LAMA2):c.6832A>G (p.Met2278Val)
|
rs146854942
|
0.00026
|
|
NM_000435.3(NOTCH3):c.3170C>T (p.Ala1057Val)
|
rs368146879
|
0.00026
|
|
NM_000451.4(SHOX):c.86A>C (p.Lys29Thr)
|
rs146304983
|
0.00026
|
|
NM_000478.6(ALPL):c.1002C>T (p.Gly334=)
|
rs370122334
|
0.00026
|
|
NM_000488.4(SERPINC1):c.870C>T (p.Phe290=)
|
rs370190321
|
0.00026
|
|
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr)
|
rs141723617
|
0.00026
|
|
NM_000498.3(CYP11B2):c.1353C>T (p.Leu451=)
|
rs371126595
|
0.00026
|
|
NM_000527.5(LDLR):c.1875C>T (p.Asn625=)
|
rs137853962
|
0.00026
|
|
NM_000528.4(MAN2B1):c.2619G>A (p.Pro873=)
|
rs372896479
|
0.00026
|
|
NM_000532.5(PCCB):c.82C>G (p.Leu28Val)
|
rs141137691
|
0.00026
|
|
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)
|
rs200513014
|
0.00026
|
|
NM_000539.3(RHO):c.919A>T (p.Ile307Phe)
|
rs771322615
|
0.00026
|
|
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val)
|
rs370966353
|
0.00026
|
|
NM_000540.3(RYR1):c.5459G>T (p.Arg1820Leu)
|
rs750141316
|
0.00026
|
|
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp)
|
rs45517328
|
0.00026
|
|
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=)
|
rs45475501
|
0.00026
|
|
NM_000553.6(WRN):c.1530A>T (p.Glu510Asp)
|
rs149565907
|
0.00026
|
|
NM_000553.6(WRN):c.2986G>A (p.Asp996Asn)
|
rs138379977
|
0.00026
|
|
NM_000719.7(CACNA1C):c.5885G>A (p.Arg1962Gln)
|
rs199776761
|
0.00026
|
|
NM_000751.3(CHRND):c.651G>A (p.Pro217=)
|
rs146205427
|
0.00026
|
|
NM_000760.4(CSF3R):c.272A>G (p.His91Arg)
|
rs148307285
|
0.00026
|
|
NM_001005242.3(PKP2):c.983G>C (p.Gly328Ala)
|
rs144651139
|
0.00026
|
|
NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn)
|
rs150613209
|
0.00026
|
|
NM_001009944.3(PKD1):c.5648C>T (p.Ala1883Val)
|
rs779745348
|
0.00026
|
|
NM_001009944.3(PKD1):c.6965C>T (p.Thr2322Met)
|
rs564570407
|
0.00026
|
|
NM_001033044.4(GLUL):c.880C>T (p.Leu294=)
|
rs199824213
|
0.00026
|
|
NM_001035.3(RYR2):c.*1108A>G
|
rs540171235
|
0.00026
|
|
NM_001035.3(RYR2):c.12917T>C (p.Phe4306Ser)
|
rs776091285
|
0.00026
|
|
NM_001035.3(RYR2):c.8831-9A>C
|
rs187977513
|
0.00026
|
|
NM_001042413.2(GLIS3):c.1200C>G (p.His400Gln)
|
rs374943049
|
0.00026
|
|
NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=)
|
rs138902646
|
0.00026
|
|
NM_001077418.3(TMEM231):c.79C>T (p.Leu27=)
|
rs370607340
|
0.00026
|
|
NM_001079855.2(GYG2):c.1277A>G (p.Gln426Arg)
|
rs144947653
|
0.00026
|
|
NM_001101426.4(CRPPA):c.999T>C (p.Asp333=)
|
rs376909665
|
0.00026
|
|
NM_001103.4(ACTN2):c.2161C>A (p.Arg721Ser)
|
rs149433837
|
0.00026
|
|
NM_001130004.2(ACTN1):c.2612G>A (p.Arg871His)
|
rs371440985
|
0.00026
|
|
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=)
|
rs150093305
|
0.00026
|
|
NM_001130987.2(DYSF):c.2217-11G>A
|
rs200853014
|
0.00026
|
|
NM_001136193.2(FASTKD2):c.882-3C>T
|
rs41272661
|
0.00026
|
|
NM_001142800.2(EYS):c.9237A>G (p.Leu3079=)
|
rs139944387
|
0.00026
|
|
NM_001142864.4(PIEZO1):c.5988A>G (p.Ser1996=)
|
rs370710857
|
0.00026
|
|
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile)
|
rs370053963
|
0.00026
|
|
NM_001199107.2(TBC1D24):c.1038C>T (p.Ser346=)
|
rs377697825
|
0.00026
|
|
NM_001199397.3(NEK1):c.3583+8A>C
|
rs192372022
|
0.00026
|
|
NM_001202.6(BMP4):c.124G>C (p.Ala42Pro)
|
rs140920120
|
0.00026
|
|
NM_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn)
|
rs200141437
|
0.00026
|
|
NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val)
|
rs199804623
|
0.00026
|
|
NM_001252024.2(TRPM1):c.2485G>A (p.Glu829Lys)
|
rs200684841
|
0.00026
|
|
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=)
|
rs201246720
|
0.00026
|
|
NM_001267550.2(TTN):c.107671G>A (p.Gly35891Ser)
|
rs201298767
|
0.00026
|
|
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=)
|
rs184307461
|
0.00026
|
|
NM_001267550.2(TTN):c.16477G>A (p.Gly5493Ser)
|
rs377042940
|
0.00026
|
|
NM_001267550.2(TTN):c.25809G>A (p.Ser8603=)
|
rs369099681
|
0.00026
|
|
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys)
|
rs199557654
|
0.00026
|
|
NM_001267550.2(TTN):c.28170C>T (p.Leu9390=)
|
rs149910892
|
0.00026
|
|
NM_001267550.2(TTN):c.32792A>C (p.Glu10931Ala)
|
rs370498307
|
0.00026
|
|
NM_001267550.2(TTN):c.3605T>C (p.Val1202Ala)
|
rs150667217
|
0.00026
|
|
NM_001267550.2(TTN):c.46387G>A (p.Gly15463Arg)
|
rs200042932
|
0.00026
|
|
NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys)
|
rs72677229
|
0.00026
|
|
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln)
|
rs199640194
|
0.00026
|
|
NM_001267550.2(TTN):c.48509A>G (p.Asn16170Ser)
|
rs370809363
|
0.00026
|
|
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val)
|
rs750610895
|
0.00026
|
|
NM_001267550.2(TTN):c.52004G>A (p.Arg17335His)
|
rs367603302
|
0.00026
|
|
NM_001267550.2(TTN):c.55354T>C (p.Ser18452Pro)
|
rs372541479
|
0.00026
|
|
NM_001267550.2(TTN):c.57263-4C>T
|
rs373552048
|
0.00026
|
|
NM_001267550.2(TTN):c.65534C>T (p.Pro21845Leu)
|
rs201662134
|
0.00026
|
|
NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met)
|
rs368867993
|
0.00026
|
|
NM_001267550.2(TTN):c.69984G>A (p.Ala23328=)
|
rs56052239
|
0.00026
|
|
NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser)
|
rs370771532
|
0.00026
|
|
NM_001267550.2(TTN):c.74844G>A (p.Lys24948=)
|
rs371884545
|
0.00026
|
|
NM_001267550.2(TTN):c.78446C>G (p.Thr26149Ser)
|
rs191263181
|
0.00026
|
|
NM_001267550.2(TTN):c.83133G>A (p.Lys27711=)
|
rs369223412
|
0.00026
|
|
NM_001267550.2(TTN):c.90382A>T (p.Thr30128Ser)
|
rs183939928
|
0.00026
|
|
NM_001267550.2(TTN):c.91425C>T (p.Asp30475=)
|
rs145133144
|
0.00026
|
|
NM_001267550.2(TTN):c.92042C>A (p.Ala30681Asp)
|
rs201400267
|
0.00026
|
|
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=)
|
rs373206096
|
0.00026
|
|
NM_001267550.2(TTN):c.98716G>A (p.Val32906Ile)
|
rs182683829
|
0.00026
|
|
NM_001282531.3(ADNP):c.2772G>C (p.Glu924Asp)
|
rs148496595
|
0.00026
|
|
NM_001291303.3(FAT4):c.11040G>A (p.Thr3680=)
|
rs147998041
|
0.00026
|
|
NM_001292063.2(OTOG):c.2385G>T (p.Gly795=)
|
rs564595203
|
0.00026
|
|
NM_001330260.2(SCN8A):c.5577C>T (p.Ser1859=)
|
rs185667241
|
0.00026
|
|
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met)
|
rs142524025
|
0.00026
|
|
NM_001352514.2(HLCS):c.2465A>G (p.His822Arg)
|
rs148868421
|
0.00026
|
|
NM_001364905.1(LRBA):c.3392A>G (p.Asp1131Gly)
|
rs553138286
|
0.00026
|
|
NM_001365951.3(KIF1B):c.2115+6835C>T
|
rs140733878
|
0.00026
|
|
NM_001367624.2(ZNF469):c.10717G>A (p.Gly3573Arg)
|
rs183149417
|
0.00026
|
|
NM_001367624.2(ZNF469):c.4855G>A (p.Glu1619Lys)
|
rs759327672
|
0.00026
|
|
NM_001367624.2(ZNF469):c.812T>C (p.Val271Ala)
|
rs985569633
|
0.00026
|
|
NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser)
|
rs137852820
|
0.00026
|
|
NM_001369.3(DNAH5):c.11234A>G (p.His3745Arg)
|
rs36088710
|
0.00026
|
|
NM_001369.3(DNAH5):c.4961G>A (p.Arg1654Gln)
|
rs150868941
|
0.00026
|
|
NM_001376013.1(EPB41):c.848C>T (p.Thr283Ile)
|
rs189183599
|
0.00026
|
|
NM_001378452.1(ITPR1):c.5083G>A (p.Asp1695Asn)
|
rs371186107
|
0.00026
|
|
NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro)
|
rs201213079
|
0.00026
|
|
NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met)
|
rs201954181
|
0.00026
|
|
NM_001379200.1(TBX1):c.1336C>T (p.Pro446Ser)
|
rs201993443
|
0.00026
|
|
NM_001384474.1(LOXHD1):c.1313A>G (p.Lys438Arg)
|
rs186138859
|
0.00026
|
|
NM_001384474.1(LOXHD1):c.231C>T (p.Leu77=)
|
rs200306249
|
0.00026
|
|
NM_001384732.1(CPLANE1):c.6744A>G (p.Gln2248=)
|
rs142772503
|
0.00026
|
|
NM_001429.4(EP300):c.4724A>G (p.Asn1575Ser)
|
rs144547088
|
0.00026
|
|
NM_001458.5(FLNC):c.5311C>G (p.Pro1771Ala)
|
rs200001272
|
0.00026
|
|
NM_001493.3(GDI1):c.696C>T (p.Gly232=)
|
rs146653767
|
0.00026
|
|
NM_001844.5(COL2A1):c.2680-9C>T
|
rs369022247
|
0.00026
|
|
NM_001848.3(COL6A1):c.1602C>T (p.Pro534=)
|
rs143755280
|
0.00026
|
|
NM_001848.3(COL6A1):c.3029A>G (p.Gln1010Arg)
|
rs141605607
|
0.00026
|
|
NM_001849.4(COL6A2):c.*5G>A
|
rs377195134
|
0.00026
|
|
NM_001849.4(COL6A2):c.2517C>T (p.Asp839=)
|
rs113002150
|
0.00026
|
|
NM_001849.4(COL6A2):c.84G>A (p.Pro28=)
|
rs140890046
|
0.00026
|
|
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser)
|
rs200496207
|
0.00026
|
|
NM_001875.5(CPS1):c.1569A>G (p.Arg523=)
|
rs140475976
|
0.00026
|
|
NM_001876.4(CPT1A):c.693+7C>T
|
rs370181471
|
0.00026
|
|
NM_001953.5(TYMP):c.676G>A (p.Gly226Arg)
|
rs200497106
|
0.00026
|
|
NM_001966.4(EHHADH):c.1013A>G (p.Lys338Arg)
|
rs141210101
|
0.00026
|
|
NM_001985.3(ETFB):c.278C>T (p.Pro93Leu)
|
rs139519507
|
0.00026
|
|
NM_001999.4(FBN2):c.1850-9C>T
|
rs199937209
|
0.00026
|
|
NM_002292.4(LAMB2):c.2322C>G (p.Thr774=)
|
rs142116851
|
0.00026
|
|
NM_002294.3(LAMP2):c.1142T>C (p.Val381Ala)
|
rs139633545
|
0.00026
|
|
NM_002303.6(LEPR):c.1030G>A (p.Val344Ile)
|
rs145668112
|
0.00026
|
|
NM_002335.4(LRP5):c.4565C>T (p.Pro1522Leu)
|
rs200624778
|
0.00026
|
|
NM_002435.3(MPI):c.1050G>A (p.Thr350=)
|
rs145431554
|
0.00026
|
|
NM_002473.6(MYH9):c.5878G>A (p.Glu1960Lys)
|
rs149560153
|
0.00026
|
|
NM_002633.3(PGM1):c.1103C>T (p.Ala368Val)
|
rs145972303
|
0.00026
|
|
NM_002834.5(PTPN11):c.333-3T>C
|
rs146749153
|
0.00026
|
|
NM_003001.5(SDHC):c.405+23C>T
|
rs373731336
|
0.00026
|
|
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His)
|
rs191293931
|
0.00026
|
|
NM_003049.4(SLC10A1):c.573G>C (p.Gly191=)
|
rs200693940
|
0.00026
|
|
NM_003072.5(SMARCA4):c.442G>A (p.Gly148Arg)
|
rs138689221
|
0.00026
|
|
NM_003126.4(SPTA1):c.4240C>T (p.Arg1414Cys)
|
rs201399968
|
0.00026
|
|
NM_003331.5(TYK2):c.2670G>C (p.Thr890=)
|
rs144332908
|
0.00026
|
|
NM_003383.5(VLDLR):c.1532A>G (p.Asn511Ser)
|
rs182216426
|
0.00026
|
|
NM_003383.5(VLDLR):c.732C>G (p.Ile244Met)
|
rs145995735
|
0.00026
|
|
NM_003482.4(KMT2D):c.6437C>T (p.Pro2146Leu)
|
rs563981206
|
0.00026
|
|
NM_003748.4(ALDH4A1):c.1377G>C (p.Pro459=)
|
rs146222625
|
0.00026
|
|
NM_003793.4(CTSF):c.214-6C>T
|
rs376579629
|
0.00026
|
|
NM_004046.6(ATP5F1A):c.248G>A (p.Arg83His)
|
rs146467617
|
0.00026
|
|
NM_004187.5(KDM5C):c.3381A>G (p.Lys1127=)
|
rs370000816
|
0.00026
|
|
NM_004239.4(TRIP11):c.1774C>T (p.Leu592=)
|
rs199768095
|
0.00026
|
|
NM_004247.4(EFTUD2):c.148G>A (p.Asp50Asn)
|
rs148202258
|
0.00026
|
|
NM_004260.4(RECQL4):c.1872C>T (p.Val624=)
|
rs201815449
|
0.00026
|
|
NM_004304.5(ALK):c.310C>T (p.Pro104Ser)
|
rs576431612
|
0.00026
|
|
NM_004304.5(ALK):c.4375G>T (p.Ala1459Ser)
|
rs372612147
|
0.00026
|
|
NM_004341.5(CAD):c.4954C>T (p.Arg1652Cys)
|
rs200577574
|
0.00026
|
|
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn)
|
rs200894246
|
0.00026
|
|
NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile)
|
rs78427077
|
0.00026
|
|
NM_004369.4(COL6A3):c.4047C>T (p.Asp1349=)
|
rs115893145
|
0.00026
|
|
NM_004369.4(COL6A3):c.4900+9C>T
|
rs117345850
|
0.00026
|
|
NM_004369.4(COL6A3):c.9351C>T (p.Asp3117=)
|
rs148821986
|
0.00026
|
|
NM_004387.4(NKX2-5):c.632C>T (p.Pro211Leu)
|
rs3729754
|
0.00026
|
|
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)
|
rs148147581
|
0.00026
|
|
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)
|
rs116888866
|
0.00026
|
|
NM_004444.5(EPHB4):c.1079G>A (p.Arg360His)
|
rs202006098
|
0.00026
|
|
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=)
|
rs190878719
|
0.00026
|
|
NM_004813.4(PEX16):c.887+9C>A
|
rs370590743
|
0.00026
|
|
NM_004974.4(KCNA2):c.1047A>G (p.Ala349=)
|
rs371979518
|
0.00026
|
|
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys)
|
rs201507590
|
0.00026
|
|
NM_005228.5(EGFR):c.2543C>T (p.Pro848Leu)
|
rs148934350
|
0.00026
|
|
NM_005422.4(TECTA):c.1651G>A (p.Val551Met)
|
rs200857366
|
0.00026
|
|
NM_005422.4(TECTA):c.3791A>G (p.Asn1264Ser)
|
rs200871280
|
0.00026
|
|
NM_005535.3(IL12RB1):c.1791+9G>A
|
rs182660189
|
0.00026
|
|
NM_005559.4(LAMA1):c.1796C>T (p.Thr599Met)
|
rs148234507
|
0.00026
|
|
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile)
|
rs143217651
|
0.00026
|
|
NM_005609.4(PYGM):c.2268C>T (p.Pro756=)
|
rs144229867
|
0.00026
|
|
NM_005633.4(SOS1):c.698A>G (p.Asn233Ser)
|
rs144934321
|
0.00026
|
|
NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln)
|
rs146370443
|
0.00026
|
|
NM_005732.4(RAD50):c.2288G>A (p.Arg763His)
|
rs141989813
|
0.00026
|
|
NM_005751.5(AKAP9):c.4826G>A (p.Arg1609Lys)
|
rs148146011
|
0.00026
|
|
NM_005751.5(AKAP9):c.9697C>T (p.Arg3233Cys)
|
rs61757674
|
0.00026
|
|
NM_006420.3(ARFGEF2):c.4346A>C (p.Asn1449Thr)
|
rs200473895
|
0.00026
|
|
NM_006496.4(GNAI3):c.509C>T (p.Thr170Ile)
|
rs61754626
|
0.00026
|
|
NM_006892.4(DNMT3B):c.1620G>A (p.Lys540=)
|
rs368295290
|
0.00026
|
|
NM_007078.3(LDB3):c.1051A>G (p.Thr351Ala)
|
rs138251566
|
0.00026
|
|
NM_007078.3(LDB3):c.2092G>A (p.Ala698Thr)
|
rs45577134
|
0.00026
|
|
NM_007259.5(VPS45):c.-4C>T
|
rs200563209
|
0.00026
|
|
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val)
|
rs28897675
|
0.00026
|
|
NM_012203.2(GRHPR):c.468C>T (p.Val156=)
|
rs142509393
|
0.00026
|
|
NM_013275.6(ANKRD11):c.7714-3C>A
|
rs199741062
|
0.00026
|
|
NM_013314.4(BLNK):c.115C>T (p.Leu39=)
|
rs34135972
|
0.00026
|
|
NM_013382.7(POMT2):c.806G>A (p.Ser269Asn)
|
rs375217032
|
0.00026
|
|
NM_014000.3(VCL):c.1297C>T (p.Arg433Cys)
|
rs139559937
|
0.00026
|
|
NM_014014.5(SNRNP200):c.2928G>A (p.Thr976=)
|
rs375734152
|
0.00026
|
|
NM_014141.6(CNTNAP2):c.3174C>G (p.Thr1058=)
|
rs143226012
|
0.00026
|
|
NM_014208.3(DSPP):c.1024G>A (p.Glu342Lys)
|
rs201404949
|
0.00026
|
|
NM_014244.5(ADAMTS2):c.724G>A (p.Ala242Thr)
|
rs372103269
|
0.00026
|
|
NM_014297.5(ETHE1):c.150G>C (p.Leu50=)
|
rs142193567
|
0.00026
|
|
NM_014363.6(SACS):c.12438G>A (p.Ser4146=)
|
rs150959878
|
0.00026
|
|
NM_014425.5(INVS):c.2664T>C (p.Ser888=)
|
rs1052867
|
0.00026
|
|
NM_014629.4(ARHGEF10):c.1528A>G (p.Thr510Ala)
|
rs201912073
|
0.00026
|
|
NM_014844.5(TECPR2):c.978C>T (p.Ser326=)
|
rs142082203
|
0.00026
|
|
NM_015046.7(SETX):c.5998C>G (p.Gln2000Glu)
|
rs142917412
|
0.00026
|
|
NM_015100.4(POGZ):c.1505G>A (p.Arg502Lys)
|
rs146816269
|
0.00026
|
|
NM_015102.5(NPHP4):c.2142T>A (p.Ala714=)
|
rs199912631
|
0.00026
|
|
NM_015192.4(PLCB1):c.3607C>T (p.Leu1203=)
|
rs150804955
|
0.00026
|
|
NM_015295.3(SMCHD1):c.3209T>C (p.Ile1070Thr)
|
rs113434340
|
0.00026
|
|
NM_015311.3(OBSL1):c.4588C>T (p.Leu1530=)
|
rs201893489
|
0.00026
|
|
NM_015404.4(WHRN):c.2237-10C>G
|
rs200131193
|
0.00026
|
|
NM_015426.5(POC1A):c.159C>T (p.Arg53=)
|
rs377711159
|
0.00026
|
|
NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu)
|
rs367930028
|
0.00026
|
|
NM_015910.7(WDPCP):c.1788C>T (p.Asp596=)
|
rs185980830
|
0.00026
|
|
NM_016011.5(MECR):c.341C>T (p.Ala114Val)
|
rs138259600
|
0.00026
|
|
NM_016239.4(MYO15A):c.10394G>A (p.Arg3465Gln)
|
rs199783506
|
0.00026
|
|
NM_017433.5(MYO3A):c.2705A>C (p.Asn902Thr)
|
rs142823078
|
0.00026
|
|
NM_017433.5(MYO3A):c.4045G>C (p.Ala1349Pro)
|
rs149521185
|
0.00026
|
|
NM_017739.4(POMGNT1):c.1284+9G>C
|
rs565797493
|
0.00026
|
|
NM_018979.4(WNK1):c.5720C>T (p.Pro1907Leu)
|
rs200979623
|
0.00026
|
|
NM_018979.4(WNK1):c.5869C>T (p.Arg1957Cys)
|
rs201766777
|
0.00026
|
|
NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu)
|
rs142348911
|
0.00026
|
|
NM_020774.4(MIB1):c.2411G>A (p.Arg804Gln)
|
rs200809199
|
0.00026
|
|
NM_020822.3(KCNT1):c.2214G>A (p.Pro738=)
|
rs142424896
|
0.00026
|
|
NM_020831.6(MRTFA):c.2364+5C>T
|
rs377354263
|
0.00026
|
|
NM_020919.4(ALS2):c.1677A>G (p.Lys559=)
|
rs367640165
|
0.00026
|
|
NM_021830.5(TWNK):c.689G>T (p.Gly230Val)
|
rs142978552
|
0.00026
|
|
NM_021930.6(RINT1):c.782C>T (p.Pro261Leu)
|
rs199535472
|
0.00026
|
|
NM_021942.6(TRAPPC11):c.2508G>A (p.Gln836=)
|
rs201868142
|
0.00026
|
|
NM_022114.4(PRDM16):c.1882G>A (p.Asp628Asn)
|
rs199895459
|
0.00026
|
|
NM_022124.6(CDH23):c.1637G>A (p.Arg546Gln)
|
rs199508694
|
0.00026
|
|
NM_022124.6(CDH23):c.3213G>A (p.Glu1071=)
|
rs140255091
|
0.00026
|
|
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr)
|
rs144688588
|
0.00026
|
|
NM_022437.3(ABCG8):c.1226A>G (p.Asn409Ser)
|
rs150977210
|
0.00026
|
|
NM_022437.3(ABCG8):c.888G>T (p.Ala296=)
|
rs143182625
|
0.00026
|
|
NM_022765.4(MICAL1):c.2167C>T (p.Arg723Cys)
|
rs149976085
|
0.00026
|
|
NM_024577.4(SH3TC2):c.2304C>T (p.Leu768=)
|
rs140829706
|
0.00026
|
|
NM_024589.3(ROGDI):c.378G>C (p.Leu126=)
|
rs145588848
|
0.00026
|
|
NM_024675.4(PALB2):c.1000T>G (p.Tyr334Asp)
|
rs202241382
|
0.00026
|
|
NM_024996.7(GFM1):c.1831C>T (p.Leu611=)
|
rs190393538
|
0.00026
|
|
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn)
|
rs145132275
|
0.00026
|
|
NM_025265.4(TSEN2):c.309G>A (p.Arg103=)
|
rs148549222
|
0.00026
|
|
NM_030662.4(MAP2K2):c.678C>T (p.Ser226=)
|
rs200874968
|
0.00026
|
|
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg)
|
rs370633684
|
0.00026
|
|
NM_030777.4(SLC2A10):c.931G>A (p.Val311Ile)
|
rs139932041
|
0.00026
|
|
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)
|
rs150624408
|
0.00026
|
|
NM_032119.4(ADGRV1):c.13153A>G (p.Ile4385Val)
|
rs200584854
|
0.00026
|
|
NM_032229.3(SLITRK6):c.1055T>C (p.Ile352Thr)
|
rs199516562
|
0.00026
|
|
NM_032444.4(SLX4):c.86G>A (p.Arg29His)
|
rs149117119
|
0.00026
|
|
NM_032578.4(MYPN):c.3818C>T (p.Pro1273Leu)
|
rs148942084
|
0.00026
|
|
NM_033109.5(PNPT1):c.1795T>A (p.Ser599Thr)
|
rs147375807
|
0.00026
|
|
NM_033343.4(LHX4):c.37G>A (p.Val13Ile)
|
rs146664099
|
0.00026
|
|
NM_052867.4(NALCN):c.2242G>A (p.Ala748Thr)
|
rs77946954
|
0.00026
|
|
NM_080473.5(GATA5):c.1088A>G (p.Lys363Arg)
|
rs140317494
|
0.00026
|
|
NM_080680.3(COL11A2):c.1636C>G (p.Arg546Gly)
|
rs149697159
|
0.00026
|
|
NM_080680.3(COL11A2):c.434C>G (p.Ala145Gly)
|
rs138305560
|
0.00026
|
|
NM_080680.3(COL11A2):c.5087C>T (p.Thr1696Met)
|
rs570708095
|
0.00026
|
|
NM_133433.4(NIPBL):c.7728T>C (p.Tyr2576=)
|
rs371347218
|
0.00026
|
|
NM_138694.4(PKHD1):c.11400G>A (p.Gly3800=)
|
rs149427926
|
0.00026
|
|
NM_138927.4(SON):c.2659G>A (p.Ala887Thr)
|
rs370344763
|
0.00026
|
|
NM_144670.6(A2ML1):c.2395T>G (p.Ser799Ala)
|
rs374408168
|
0.00026
|
|
NM_144670.6(A2ML1):c.814C>T (p.Arg272Trp)
|
rs201215628
|
0.00026
|
|
NM_145207.3(AFG2A):c.2219T>C (p.Leu740Ser)
|
rs199626476
|
0.00026
|
|
NM_145261.4(DNAJC19):c.331G>C (p.Glu111Gln)
|
rs370042988
|
0.00026
|
|
NM_147196.3(TMIE):c.191C>T (p.Ser64Leu)
|
rs189895472
|
0.00026
|
|
NM_153240.5(NPHP3):c.118C>T (p.Leu40=)
|
rs374281831
|
0.00026
|
|
NM_153240.5(NPHP3):c.408G>A (p.Thr136=)
|
rs141410951
|
0.00026
|
|
NM_153365.3(TAPT1):c.207A>G (p.Ser69=)
|
rs181652196
|
0.00026
|
|
NM_172362.3(KCNH1):c.2779C>G (p.Leu927Val)
|
rs140435478
|
0.00026
|
|
NM_177550.5(SLC13A5):c.1366G>A (p.Val456Ile)
|
rs146047560
|
0.00026
|
|
NM_181523.3(PIK3R1):c.917-1513G>T
|
rs144312303
|
0.00026
|
|
NM_183050.4(BCKDHB):c.744G>A (p.Ala248=)
|
rs147719822
|
0.00026
|
|
NM_194248.3(OTOF):c.154G>A (p.Val52Met)
|
rs199992845
|
0.00026
|
|
NM_194248.3(OTOF):c.1960C>T (p.Arg654Trp)
|
rs144259658
|
0.00026
|
|
NM_198075.4(LRRC56):c.972T>C (p.His324=)
|
rs199784204
|
0.00026
|
|
NM_198525.3(KIF7):c.3202C>T (p.Arg1068Trp)
|
rs147191956
|
0.00026
|
|
NM_201384.3(PLEC):c.12475C>T (p.Arg4159Cys)
|
rs201069314
|
0.00026
|
|
NM_201384.3(PLEC):c.12781G>A (p.Ala4261Thr)
|
rs200924154
|
0.00026
|
|
NM_201384.3(PLEC):c.8762C>T (p.Thr2921Met)
|
rs191036710
|
0.00026
|
|
NM_201384.3(PLEC):c.8845C>T (p.Arg2949Trp)
|
rs202241157
|
0.00026
|
|
NM_201384.3(PLEC):c.9475G>A (p.Ala3159Thr)
|
rs201030020
|
0.00026
|
|
NM_201596.3(CACNB2):c.1357C>T (p.Leu453Phe)
|
rs145638628
|
0.00026
|
|
NM_206933.4(USH2A):c.10374G>A (p.Thr3458=)
|
rs137963595
|
0.00026
|
|
NM_206933.4(USH2A):c.11597C>T (p.Ala3866Val)
|
rs138326802
|
0.00026
|
|
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser)
|
rs138398671
|
0.00026
|
|
NM_206933.4(USH2A):c.14069A>G (p.Tyr4690Cys)
|
rs150280500
|
0.00026
|
|
NM_207361.6(FREM2):c.7062G>A (p.Thr2354=)
|
rs41286130
|
0.00026
|
|
NM_207361.6(FREM2):c.9009C>T (p.Val3003=)
|
rs145657148
|
0.00026
|
|
NM_213655.5(WNK1):c.2939G>T (p.Ser980Ile)
|
rs372091476
|
0.00026
|
|
NM_000037.4(ANK1):c.447G>T (p.Ala149=)
|
rs140550365
|
0.00025
|
|
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)
|
rs150757822
|
0.00025
|
|
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile)
|
rs782268170
|
0.00025
|
|
NM_000053.4(ATP7B):c.1291T>C (p.Cys431Arg)
|
rs145173864
|
0.00025
|
|
NM_000057.4(BLM):c.2838A>G (p.Thr946=)
|
rs200850440
|
0.00025
|
|
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)
|
rs56328701
|
0.00025
|
|
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg)
|
rs80358674
|
0.00025
|
|
NM_000071.3(CBS):c.829-11G>T
|
rs371619788
|
0.00025
|
|
NM_000080.4(CHRNE):c.46+5G>A
|
rs375802288
|
0.00025
|
|
NM_000081.4(LYST):c.4578T>A (p.Asn1526Lys)
|
rs117609949
|
0.00025
|
|
NM_000091.5(COL4A3):c.3182G>A (p.Gly1061Asp)
|
rs202078295
|
0.00025
|
|
NM_000094.4(COL7A1):c.3086C>T (p.Thr1029Met)
|
rs376090628
|
0.00025
|
|
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His)
|
rs76784312
|
0.00025
|
|
NM_000124.4(ERCC6):c.438C>T (p.Ser146=)
|
rs138756386
|
0.00025
|
|
NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe)
|
rs150935953
|
0.00025
|
|
NM_000130.5(F5):c.2868T>C (p.Tyr956=)
|
rs149067268
|
0.00025
|
|
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu)
|
rs56369086
|
0.00025
|
|
NM_000135.4(FANCA):c.2799A>G (p.Leu933=)
|
rs148250597
|
0.00025
|
|
NM_000169.3(GLA):c.-44C>T
|
rs781906252
|
0.00025
|
|
NM_000186.4(CFH):c.3133+4C>G
|
rs374729595
|
0.00025
|
|
NM_000208.4(INSR):c.1179G>A (p.Gly393=)
|
rs140573575
|
0.00025
|
|
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln)
|
rs145229963
|
0.00025
|
|
NM_000232.5(SGCB):c.495C>T (p.Asp165=)
|
rs142801720
|
0.00025
|
|
NM_000232.5(SGCB):c.794C>T (p.Thr265Ile)
|
rs116214830
|
0.00025
|
|
NM_000256.3(MYBPC3):c.2873C>T (p.Thr958Ile)
|
rs376504548
|
0.00025
|
|
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met)
|
rs200119454
|
0.00025
|
|
NM_000264.5(PTCH1):c.4033C>T (p.Arg1345Cys)
|
rs556901417
|
0.00025
|
|
NM_000343.4(SLC5A1):c.1280+8C>G
|
rs200130719
|
0.00025
|
|
NM_000359.3(TGM1):c.281G>A (p.Gly94Asp)
|
rs121918729
|
0.00025
|
|
NM_000391.4(TPP1):c.7C>A (p.Leu3Ile)
|
rs142163063
|
0.00025
|
|
NM_000432.4(MYL2):c.275-14G>C
|
rs375703502
|
0.00025
|
|
NM_000492.4(CFTR):c.4197C>G (p.Leu1399=)
|
rs79688066
|
0.00025
|
|
NM_000498.3(CYP11B2):c.477G>A (p.Pro159=)
|
rs375242946
|
0.00025
|
|
NM_000501.4(ELN):c.930C>T (p.Ala310=)
|
rs147367888
|
0.00025
|
|
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=)
|
rs112829030
|
0.00025
|
|
NM_000540.3(RYR1):c.6478G>A (p.Gly2160Ser)
|
rs143398211
|
0.00025
|
|
NM_000546.6(TP53):c.704A>G (p.Asn235Ser)
|
rs144340710
|
0.00025
|
|
NM_000548.5(TSC2):c.4223G>T (p.Gly1408Val)
|
rs202068995
|
0.00025
|
|
NM_000548.5(TSC2):c.5262C>G (p.Ile1754Met)
|
rs397515318
|
0.00025
|
|
NM_000552.5(VWF):c.6377T>C (p.Ile2126Thr)
|
rs71579338
|
0.00025
|
|
NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=)
|
rs141633456
|
0.00025
|
|
NM_000719.7(CACNA1C):c.3747C>T (p.Ile1249=)
|
rs370576211
|
0.00025
|
|
NM_000789.4(ACE):c.3656T>C (p.Leu1219Pro)
|
rs140941300
|
0.00025
|
|
NM_000836.4(GRIN2D):c.3277C>G (p.Pro1093Ala)
|
rs752857170
|
0.00025
|
|
NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln)
|
rs150628823
|
0.00025
|
|
NM_000890.5(KCNJ5):c.122G>A (p.Arg41His)
|
rs139073333
|
0.00025
|
|
NM_001024630.4(RUNX2):c.531C>G (p.Asn177Lys)
|
rs147359883
|
0.00025
|
|
NM_001035.3(RYR2):c.2574G>A (p.Thr858=)
|
rs367992907
|
0.00025
|
|
NM_001035.3(RYR2):c.6689-12T>C
|
rs370972311
|
0.00025
|
|
NM_001039213.4(CEACAM16):c.116T>A (p.Leu39Gln)
|
rs375722926
|
0.00025
|
|
NM_001040142.2(SCN2A):c.2923C>T (p.Leu975=)
|
rs375858093
|
0.00025
|
|
NM_001077653.2(TBX20):c.414G>A (p.Ser138=)
|
rs144597480
|
0.00025
|
|
NM_001103.4(ACTN2):c.1235C>T (p.Thr412Met)
|
rs139515659
|
0.00025
|
|
NM_001126108.2(SLC12A3):c.1732G>A (p.Val578Met)
|
rs139329616
|
0.00025
|
|
NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys)
|
rs200049922
|
0.00025
|
|
NM_001134363.3(RBM20):c.1807G>A (p.Gly603Arg)
|
rs558674954
|
0.00025
|
|
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg)
|
rs201148126
|
0.00025
|
|
NM_001177316.2(SLC34A3):c.1074G>A (p.Val358=)
|
rs146097023
|
0.00025
|
|
NM_001202.6(BMP4):c.676C>T (p.Arg226Trp)
|
rs140590144
|
0.00025
|
|
NM_001267550.2(TTN):c.100389C>T (p.Tyr33463=)
|
rs368984050
|
0.00025
|
|
NM_001267550.2(TTN):c.19547A>T (p.Lys6516Met)
|
rs199796249
|
0.00025
|
|
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser)
|
rs146057575
|
0.00025
|
|
NM_001267550.2(TTN):c.44497G>A (p.Val14833Ile)
|
rs373168798
|
0.00025
|
|
NM_001267550.2(TTN):c.46928A>G (p.His15643Arg)
|
rs368502650
|
0.00025
|
|
NM_001267550.2(TTN):c.52656T>C (p.Pro17552=)
|
rs371031259
|
0.00025
|
|
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro)
|
rs201674674
|
0.00025
|
|
NM_001282531.3(ADNP):c.3236A>G (p.Asn1079Ser)
|
rs147399432
|
0.00025
|
|
NM_001292063.2(OTOG):c.1840C>T (p.Arg614Trp)
|
rs201183725
|
0.00025
|
|
NM_001330078.2(NRXN1):c.2190G>T (p.Gln730His)
|
rs199978276
|
0.00025
|
|
NM_001349206.2(LPIN1):c.1972G>A (p.Val658Ile)
|
rs146048019
|
0.00025
|
|
NM_001355436.2(SPTB):c.982C>T (p.Arg328Cys)
|
rs143293179
|
0.00025
|
|
NM_001369.3(DNAH5):c.12523G>A (p.Val4175Met)
|
rs148123430
|
0.00025
|
|
NM_001369.3(DNAH5):c.7684A>T (p.Ile2562Phe)
|
rs151287187
|
0.00025
|
|
NM_001375808.2(LPIN2):c.2625G>A (p.Pro875=)
|
rs187572602
|
0.00025
|
|
NM_001379081.2(FREM1):c.4412G>A (p.Ser1471Asn)
|
rs200650442
|
0.00025
|
|
NM_001394062.1(MACF1):c.15226C>G (p.Leu5076Val)
|
rs144367111
|
0.00025
|
|
NM_001429.4(EP300):c.5172C>A (p.Thr1724=)
|
rs142330184
|
0.00025
|
|
NM_001458.5(FLNC):c.1757T>C (p.Val586Ala)
|
rs374132023
|
0.00025
|
|
NM_001458.5(FLNC):c.2068T>C (p.Phe690Leu)
|
rs200943714
|
0.00025
|
|
NM_001684.5(ATP2B4):c.1996G>A (p.Ala666Thr)
|
rs138521935
|
0.00025
|
|
NM_001711.6(BGN):c.351+6G>A
|
rs370838225
|
0.00025
|
|
NM_001792.5(CDH2):c.2016A>T (p.Glu672Asp)
|
rs151218256
|
0.00025
|
|
NM_001845.6(COL4A1):c.2126C>T (p.Pro709Leu)
|
rs150129180
|
0.00025
|
|
NM_001848.3(COL6A1):c.2856C>T (p.Pro952=)
|
rs140427635
|
0.00025
|
|
NM_001851.6(COL9A1):c.1634G>A (p.Arg545His)
|
rs145698301
|
0.00025
|
|
NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg)
|
rs373264436
|
0.00025
|
|
NM_002435.3(MPI):c.671-4T>G
|
rs199719453
|
0.00025
|
|
NM_002454.3(MTRR):c.906T>C (p.Asn302=)
|
rs144729918
|
0.00025
|
|
NM_002473.6(MYH9):c.1479G>A (p.Gln493=)
|
rs376262583
|
0.00025
|
|
NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn)
|
rs34292387
|
0.00025
|
|
NM_002474.3(MYH11):c.5393G>A (p.Arg1798Gln)
|
rs148938946
|
0.00025
|
|
NM_002474.3(MYH11):c.5585G>A (p.Arg1862His)
|
rs146228576
|
0.00025
|
|
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr)
|
rs148205441
|
0.00025
|
|
NM_002691.4(POLD1):c.3257G>A (p.Arg1086Gln)
|
rs3219457
|
0.00025
|
|
NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser)
|
rs201676898
|
0.00025
|
|
NM_003193.5(TBCE):c.708T>G (p.Leu236=)
|
rs141498084
|
0.00025
|
|
NM_003482.4(KMT2D):c.3906+20C>T
|
rs375504464
|
0.00025
|
|
NM_003640.5(ELP1):c.3701-6C>G
|
rs148535504
|
0.00025
|
|
NM_003742.4(ABCB11):c.851T>C (p.Val284Ala)
|
rs200739891
|
0.00025
|
|
NM_003849.4(SUCLG1):c.110G>C (p.Gly37Ala)
|
rs369610897
|
0.00025
|
|
NM_004006.3(DMD):c.8076A>G (p.Gln2692=)
|
rs144518527
|
0.00025
|
|
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His)
|
rs113849804
|
0.00025
|
|
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn)
|
rs397507456
|
0.00025
|
|
NM_004366.6(CLCN2):c.246C>G (p.Phe82Leu)
|
rs140463309
|
0.00025
|
|
NM_004369.4(COL6A3):c.1146G>A (p.Gln382=)
|
rs368800027
|
0.00025
|
|
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala)
|
rs55997127
|
0.00025
|
|
NM_004461.3(FARSA):c.1012C>T (p.Arg338Cys)
|
rs201276620
|
0.00025
|
|
NM_005045.4(RELN):c.5711C>T (p.Thr1904Met)
|
rs114190729
|
0.00025
|
|
NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val)
|
rs139794766
|
0.00025
|
|
NM_005609.4(PYGM):c.612C>T (p.Tyr204=)
|
rs200467937
|
0.00025
|
|
NM_005618.4(DLL1):c.303C>A (p.Asp101Glu)
|
rs201394102
|
0.00025
|
|
NM_005732.4(RAD50):c.2177G>A (p.Arg726His)
|
rs28903092
|
0.00025
|
|
NM_005732.4(RAD50):c.3455G>A (p.Arg1152Gln)
|
rs144253015
|
0.00025
|
|
NM_005751.5(AKAP9):c.7488T>G (p.Asn2496Lys)
|
rs201977551
|
0.00025
|
|
NM_005816.5(CD96):c.1166G>A (p.Ser389Asn)
|
rs138396447
|
0.00025
|
|
NM_005869.4(CWC27):c.121A>G (p.Ile41Val)
|
rs201232840
|
0.00025
|
|
NM_005902.4(SMAD3):c.207-10G>A
|
rs201912204
|
0.00025
|
|
NM_006005.3(WFS1):c.772G>A (p.Val258Ile)
|
rs757414862
|
0.00025
|
|
NM_006767.4(LZTR1):c.1939A>G (p.Ile647Val)
|
rs148916790
|
0.00025
|
|
NM_006922.4(SCN3A):c.2121C>T (p.Ser707=)
|
rs370351101
|
0.00025
|
|
NM_012193.4(FZD4):c.118G>C (p.Glu40Gln)
|
rs139401671
|
0.00025
|
|
NM_012203.2(GRHPR):c.391G>A (p.Glu131Lys)
|
rs369339903
|
0.00025
|
|
NM_012434.5(SLC17A5):c.6G>A (p.Arg2=)
|
rs374582872
|
0.00025
|
|
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val)
|
rs143802431
|
0.00025
|
|
NM_014000.3(VCL):c.1294C>G (p.Leu432Val)
|
rs144146254
|
0.00025
|
|
NM_014780.5(CUL7):c.2802C>A (p.Leu934=)
|
rs144926293
|
0.00025
|
|
NM_015102.5(NPHP4):c.1632C>T (p.Ala544=)
|
rs201903713
|
0.00025
|
|
NM_015158.5(KANK1):c.3554-5T>A
|
rs76738278
|
0.00025
|
|
NM_015512.5(DNAH1):c.9302A>G (p.Lys3101Arg)
|
rs199884450
|
0.00025
|
|
NM_015662.3(IFT172):c.291A>C (p.Glu97Asp)
|
rs189236939
|
0.00025
|
|
NM_016203.4(PRKAG2):c.325T>G (p.Ser109Ala)
|
rs139579816
|
0.00025
|
|
NM_016239.4(MYO15A):c.7396-8C>G
|
rs370351502
|
0.00025
|
|
NM_018451.5(CENPJ):c.3305A>G (p.Asn1102Ser)
|
rs41300592
|
0.00025
|
|
NM_020247.5(COQ8A):c.1286A>G (p.Tyr429Cys)
|
rs144147839
|
0.00025
|
|
NM_020320.5(RARS2):c.207A>G (p.Ala69=)
|
rs568483789
|
0.00025
|
|
NM_020738.4(KIDINS220):c.1934C>T (p.Thr645Ile)
|
rs185330217
|
0.00025
|
|
NM_021942.6(TRAPPC11):c.2530C>A (p.Arg844Ser)
|
rs149626892
|
0.00025
|
|
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val)
|
rs370762269
|
0.00025
|
|
NM_022124.6(CDH23):c.6026T>A (p.Leu2009His)
|
rs201067092
|
0.00025
|
|
NM_022124.6(CDH23):c.6489G>C (p.Leu2163=)
|
rs111033493
|
0.00025
|
|
NM_023036.6(DNAI2):c.1065G>A (p.Lys355=)
|
rs551163932
|
0.00025
|
|
NM_024312.5(GNPTAB):c.1429T>G (p.Tyr477Asp)
|
rs145586576
|
0.00025
|
|
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val)
|
rs201845641
|
0.00025
|
|
NM_024753.5(TTC21B):c.960C>G (p.Asn320Lys)
|
rs148866170
|
0.00025
|
|
NM_031407.7(HUWE1):c.8687C>T (p.Ala2896Val)
|
rs142574684
|
0.00025
|
|
NM_032119.4(ADGRV1):c.13186G>A (p.Ala4396Thr)
|
rs201154290
|
0.00025
|
|
NM_032119.4(ADGRV1):c.5578G>A (p.Ala1860Thr)
|
rs369603835
|
0.00025
|
|
NM_032119.4(ADGRV1):c.7468G>A (p.Ala2490Thr)
|
rs143632883
|
0.00025
|
|
NM_032119.4(ADGRV1):c.7873C>T (p.Arg2625Cys)
|
rs201583659
|
0.00025
|
|
NM_032575.3(GLIS2):c.693C>T (p.Asn231=)
|
rs150071733
|
0.00025
|
|
NM_032830.3(UTP4):c.1287+6T>C
|
rs201299923
|
0.00025
|
|
NM_053025.4(MYLK):c.2253C>T (p.Thr751=)
|
rs138777049
|
0.00025
|
|
NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser)
|
rs185057307
|
0.00025
|
|
NM_133379.5(TTN):c.11283G>C (p.Lys3761Asn)
|
rs200816462
|
0.00025
|
|
NM_133379.5(TTN):c.12716C>T (p.Ala4239Val)
|
rs72647901
|
0.00025
|
|
NM_133444.3(ZNF526):c.825C>T (p.Cys275=)
|
rs138082392
|
0.00025
|
|
NM_138694.4(PKHD1):c.130+9G>A
|
rs367608402
|
0.00025
|
|
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met)
|
rs199621305
|
0.00025
|
|
NM_145239.3(PRRT2):c.1013T>C (p.Val338Ala)
|
rs144540943
|
0.00025
|
|
NM_152269.5(MTRFR):c.336A>G (p.Leu112=)
|
rs138538426
|
0.00025
|
|
NM_152564.5(VPS13B):c.3204A>G (p.Thr1068=)
|
rs140090983
|
0.00025
|
|
NM_152618.3(BBS12):c.1257C>T (p.Ser419=)
|
rs34652786
|
0.00025
|
|
NM_153252.5(BRWD3):c.4377A>G (p.Leu1459=)
|
rs138240307
|
0.00025
|
|
NM_172201.2(KCNE2):c.29C>T (p.Thr10Met)
|
rs199473648
|
0.00025
|
|
NM_174934.4(SCN4B):c.194A>T (p.His65Leu)
|
rs112363898
|
0.00025
|
|
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile)
|
rs142204928
|
0.00025
|
|
NM_177438.3(DICER1):c.1124C>G (p.Pro375Arg)
|
rs148758903
|
0.00025
|
|
NM_194248.3(OTOF):c.152C>T (p.Pro51Leu)
|
rs150132765
|
0.00025
|
|
NM_201253.3(CRB1):c.1428C>T (p.Thr476=)
|
rs62636282
|
0.00025
|
|
NM_201253.3(CRB1):c.2230C>A (p.Arg744=)
|
rs150412614
|
0.00025
|
|
NM_201384.3(PLEC):c.13209G>A (p.Pro4403=)
|
rs200338374
|
0.00025
|
|
NM_201384.3(PLEC):c.2541C>T (p.Ser847=)
|
rs374688294
|
0.00025
|
|
NM_201384.3(PLEC):c.5632C>T (p.Arg1878Trp)
|
rs782312793
|
0.00025
|
|
NM_201548.5(CERKL):c.60G>A (p.Glu20=)
|
rs556744419
|
0.00025
|
|
NM_206933.4(USH2A):c.1439T>C (p.Val480Ala)
|
rs200981928
|
0.00025
|
|
NM_207122.2(EXT2):c.1645C>T (p.Leu549=)
|
rs142565472
|
0.00025
|
|
NM_000018.4(ACADVL):c.1751+18G>A
|
rs528002997
|
0.00024
|
|
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg)
|
rs201131924
|
0.00024
|
|
NM_000038.6(APC):c.5274T>A (p.Ser1758=)
|
rs199600387
|
0.00024
|
|
NM_000059.4(BRCA2):c.317-22C>T
|
rs81002794
|
0.00024
|
|
NM_000069.3(CACNA1S):c.4972C>T (p.Arg1658Cys)
|
rs147392278
|
0.00024
|
|
NM_000073.3(CD3G):c.511T>C (p.Tyr171His)
|
rs148191859
|
0.00024
|
|
NM_000091.5(COL4A3):c.2168C>T (p.Pro723Leu)
|
rs201198284
|
0.00024
|
|
NM_000091.5(COL4A3):c.221C>T (p.Pro74Leu)
|
rs373975901
|
0.00024
|
|
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu)
|
rs201671013
|
0.00024
|
|
NM_000094.4(COL7A1):c.7417G>A (p.Glu2473Lys)
|
rs199819125
|
0.00024
|
|
NM_000095.3(COMP):c.700C>T (p.Pro234Ser)
|
rs557483957
|
0.00024
|
|
NM_000098.3(CPT2):c.1422C>A (p.Ala474=)
|
rs192779168
|
0.00024
|
|
NM_000098.3(CPT2):c.1519G>A (p.Val507Ile)
|
rs142600166
|
0.00024
|
|
NM_000124.4(ERCC6):c.1772C>T (p.Pro591Leu)
|
rs115876786
|
0.00024
|
|
NM_000127.3(EXT1):c.1066G>A (p.Val356Ile)
|
rs61753260
|
0.00024
|
|
NM_000135.4(FANCA):c.2589C>A (p.Gly863=)
|
rs72807571
|
0.00024
|
|
NM_000152.5(GAA):c.1552-14C>T
|
rs199715011
|
0.00024
|
|
NM_000154.2(GALK1):c.447G>A (p.Thr149=)
|
rs765744088
|
0.00024
|
|
NM_000203.5(IDUA):c.1765G>A (p.Gly589Ser)
|
rs144941693
|
0.00024
|
|
NM_000204.5(CFI):c.719C>G (p.Ala240Gly)
|
rs146444258
|
0.00024
|
|
NM_000211.5(ITGB2):c.1575C>T (p.Pro525=)
|
rs200615045
|
0.00024
|
|
NM_000214.3(JAG1):c.3280C>T (p.Arg1094Trp)
|
rs75652750
|
0.00024
|
|
NM_000214.3(JAG1):c.399G>A (p.Thr133=)
|
rs763154396
|
0.00024
|
|
NM_000219.6(KCNE1):c.206A>G (p.Lys69Arg)
|
rs149338401
|
0.00024
|
|
NM_000233.4(LHCGR):c.1797C>A (p.Ile599=)
|
rs143697410
|
0.00024
|
|
NM_000235.4(LIPA):c.396C>G (p.Leu132=)
|
rs201603238
|
0.00024
|
|
NM_000243.3(MEFV):c.1677C>T (p.Leu559=)
|
rs144672997
|
0.00024
|
|
NM_000245.4(MET):c.1932C>T (p.His644=)
|
rs45520237
|
0.00024
|
|
NM_000245.4(MET):c.967A>G (p.Ser323Gly)
|
rs201467281
|
0.00024
|
|
NM_000246.4(CIITA):c.2817-10T>C
|
rs75381106
|
0.00024
|
|
NM_000255.4(MMUT):c.1008G>A (p.Met336Ile)
|
rs150095448
|
0.00024
|
|
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro)
|
rs377225516
|
0.00024
|
|
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)
|
rs201307101
|
0.00024
|
|
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys)
|
rs199818783
|
0.00024
|
|
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met)
|
rs140559111
|
0.00024
|
|
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe)
|
rs1800408
|
0.00024
|
|
NM_000275.3(OCA2):c.29G>A (p.Arg10Gln)
|
rs199752361
|
0.00024
|
|
NM_000276.4(OCRL):c.2680T>A (p.Phe894Ile)
|
rs147629352
|
0.00024
|
|
NM_000294.3(PHKG2):c.360A>G (p.Thr120=)
|
rs149163610
|
0.00024
|
|
NM_000304.4(PMP22):c.320-4C>T
|
rs377467465
|
0.00024
|
|
NM_000335.5(SCN5A):c.1340C>G (p.Ala447Gly)
|
rs199473113
|
0.00024
|
|
NM_000342.4(SLC4A1):c.1972G>A (p.Glu658Lys)
|
rs75731670
|
0.00024
|
|
NM_000342.4(SLC4A1):c.337G>A (p.Val113Ile)
|
rs142757938
|
0.00024
|
|
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met)
|
rs61752424
|
0.00024
|
|
NM_000352.6(ABCC8):c.105G>A (p.Pro35=)
|
rs199925058
|
0.00024
|
|
NM_000352.6(ABCC8):c.1630+8C>T
|
rs200053398
|
0.00024
|
|
NM_000359.3(TGM1):c.167C>T (p.Ala56Val)
|
rs147479810
|
0.00024
|
|
NM_000376.3(VDR):c.146+9dup
|
rs748166237
|
0.00024
|
|
NM_000384.3(APOB):c.8550T>G (p.Ile2850Met)
|
rs148498577
|
0.00024
|
|
NM_000391.4(TPP1):c.1280C>T (p.Thr427Met)
|
rs201034755
|
0.00024
|
|
NM_000392.5(ABCC2):c.469-9T>C
|
rs147614414
|
0.00024
|
|
NM_000399.5(EGR2):c.192G>C (p.Met64Ile)
|
rs146631014
|
0.00024
|
|
NM_000426.4(LAMA2):c.4010A>G (p.His1337Arg)
|
rs139739075
|
0.00024
|
|
NM_000443.4(ABCB4):c.3000T>C (p.Ala1000=)
|
rs1057495486
|
0.00024
|
|
NM_000452.3(SLC10A2):c.132G>C (p.Leu44Phe)
|
rs199553519
|
0.00024
|
|
NM_000452.3(SLC10A2):c.561C>G (p.Pro187=)
|
rs139517943
|
0.00024
|
|
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly)
|
rs145009419
|
0.00024
|
|
NM_000466.3(PEX1):c.2868T>A (p.Val956=)
|
rs200663477
|
0.00024
|
|
NM_000481.4(AMT):c.152C>T (p.Ala51Val)
|
rs34812788
|
0.00024
|
|
NM_000489.6(ATRX):c.5968T>A (p.Ser1990Thr)
|
rs142180002
|
0.00024
|
|
NM_000501.4(ELN):c.861G>A (p.Gly287=)
|
rs368610108
|
0.00024
|
|
NM_000540.3(RYR1):c.7026C>T (p.Asn2342=)
|
rs202061237
|
0.00024
|
|
NM_000702.4(ATP1A2):c.2973C>T (p.Tyr991=)
|
rs149286529
|
0.00024
|
|
NM_000709.4(BCKDHA):c.744C>T (p.Ala248=)
|
rs137960127
|
0.00024
|
|
NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr)
|
rs142963320
|
0.00024
|
|
NM_001008216.2(GALE):c.423C>T (p.Tyr141=)
|
rs138518245
|
0.00024
|
|
NM_001035.3(RYR2):c.12492G>A (p.Gln4164=)
|
rs377293019
|
0.00024
|
|
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys)
|
rs551099887
|
0.00024
|
|
NM_001039348.3(EFEMP1):c.1413C>T (p.Ser471=)
|
rs374690853
|
0.00024
|
|
NM_001039876.3(SYNE4):c.625G>A (p.Glu209Lys)
|
rs149470089
|
0.00024
|
|
NM_001040142.2(SCN2A):c.952G>A (p.Glu318Lys)
|
rs149987700
|
0.00024
|
|
NM_001040436.3(YARS2):c.928C>T (p.Pro310Ser)
|
rs199885274
|
0.00024
|
|
NM_001040716.2(PC):c.715A>G (p.Ile239Val)
|
rs148805312
|
0.00024
|
|
NM_001042681.2(RERE):c.1964C>T (p.Ala655Val)
|
rs149900041
|
0.00024
|
|
NM_001059.3(TACR3):c.1321C>T (p.Arg441Cys)
|
rs146482011
|
0.00024
|
|
NM_001077365.2(POMT1):c.1598C>T (p.Ala533Val)
|
rs199682341
|
0.00024
|
|
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met)
|
rs193922635
|
0.00024
|
|
NM_001114753.3(ENG):c.7C>T (p.Arg3Cys)
|
rs139334561
|
0.00024
|
|
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val)
|
rs199512932
|
0.00024
|
|
NM_001127222.2(CACNA1A):c.7291G>A (p.Ala2431Thr)
|
rs1052515747
|
0.00024
|
|
NM_001130987.2(DYSF):c.3125C>T (p.Pro1042Leu)
|
rs372880553
|
0.00024
|
|
NM_001130987.2(DYSF):c.4780C>T (p.Pro1594Ser)
|
rs149768871
|
0.00024
|
|
NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser)
|
rs200271618
|
0.00024
|
|
NM_001134407.3(GRIN2A):c.2165C>T (p.Thr722Met)
|
rs376029542
|
0.00024
|
|
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg)
|
rs367857088
|
0.00024
|
|
NM_001142864.4(PIEZO1):c.6154G>A (p.Val2052Ile)
|
rs564395221
|
0.00024
|
|
NM_001148.6(ANK2):c.5509G>A (p.Ala1837Thr)
|
rs199527708
|
0.00024
|
|
NM_001164508.2(NEB):c.22108C>G (p.Pro7370Ala)
|
rs200304547
|
0.00024
|
|
NM_001164508.2(NEB):c.3637G>A (p.Val1213Ile)
|
rs202124287
|
0.00024
|
|
NM_001166114.2(PNPLA6):c.3699+9G>A
|
rs201144113
|
0.00024
|
|
NM_001191061.2(SLC25A22):c.679G>A (p.Val227Met)
|
rs200603610
|
0.00024
|
|
NM_001193315.2(VIPAS39):c.1071C>T (p.Asn357=)
|
rs138544284
|
0.00024
|
|
NM_001199397.3(NEK1):c.1617G>A (p.Gln539=)
|
rs146569517
|
0.00024
|
|
NM_001206744.2(TPO):c.2524G>A (p.Gly842Arg)
|
rs201659055
|
0.00024
|
|
NM_001243279.3(ACSF3):c.1502-4G>A
|
rs111414659
|
0.00024
|
|
NM_001244008.2(KIF1A):c.4744-5C>T
|
rs117815481
|
0.00024
|
|
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=)
|
rs375448572
|
0.00024
|
|
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=)
|
rs190604150
|
0.00024
|
|
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys)
|
rs72646839
|
0.00024
|
|
NM_001267550.2(TTN):c.62098A>G (p.Asn20700Asp)
|
rs151193056
|
0.00024
|
|
NM_001267550.2(TTN):c.64811G>A (p.Arg21604Gln)
|
rs188996850
|
0.00024
|
|
NM_001267550.2(TTN):c.68082C>T (p.Cys22694=)
|
rs79406408
|
0.00024
|
|
NM_001267550.2(TTN):c.70056A>G (p.Arg23352=)
|
rs75948012
|
0.00024
|
|
NM_001267550.2(TTN):c.86117G>A (p.Arg28706Gln)
|
rs199788826
|
0.00024
|
|
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val)
|
rs200193877
|
0.00024
|
|
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=)
|
rs370479059
|
0.00024
|
|
NM_001267550.2(TTN):c.91173A>C (p.Glu30391Asp)
|
rs199505541
|
0.00024
|
|
NM_001267550.2(TTN):c.94633C>T (p.Arg31545Cys)
|
rs202187398
|
0.00024
|
|
NM_001267550.2(TTN):c.95884A>G (p.Asn31962Asp)
|
rs369087584
|
0.00024
|
|
NM_001277115.2(DNAH11):c.3853-5C>G
|
rs367628980
|
0.00024
|
|
NM_001277115.2(DNAH11):c.4945-12T>C
|
rs141572016
|
0.00024
|
|
NM_001278716.2(FBXL4):c.79A>G (p.Thr27Ala)
|
rs142853738
|
0.00024
|
|
NM_001318510.2(ACSL4):c.806+8A>C
|
rs201269990
|
0.00024
|
|
NM_001350451.2(RBFOX3):c.347G>A (p.Arg116Gln)
|
rs199891032
|
0.00024
|
|
NM_001363118.2(SLC52A2):c.1163A>G (p.Tyr388Cys)
|
rs148754028
|
0.00024
|
|
NM_001363711.2(DUOX2):c.2725C>T (p.Arg909Trp)
|
rs150698607
|
0.00024
|
|
NM_001365276.2(TNXB):c.8432G>A (p.Arg2811Gln)
|
rs200522966
|
0.00024
|
|
NM_001365951.3(KIF1B):c.1771G>A (p.Gly591Arg)
|
rs145266399
|
0.00024
|
|
NM_001367624.2(ZNF469):c.2804A>G (p.Glu935Gly)
|
rs773608978
|
0.00024
|
|
NM_001367624.2(ZNF469):c.891C>G (p.Phe297Leu)
|
rs770483852
|
0.00024
|
|
NM_001368894.2(PAX6):c.985T>C (p.Leu329=)
|
rs373147550
|
0.00024
|
|
NM_001369.3(DNAH5):c.10435G>A (p.Ala3479Thr)
|
rs143295106
|
0.00024
|
|
NM_001369.3(DNAH5):c.13174T>C (p.Phe4392Leu)
|
rs369714206
|
0.00024
|
|
NM_001369.3(DNAH5):c.6731A>T (p.Lys2244Met)
|
rs187023993
|
0.00024
|
|
NM_001370298.3(FGD4):c.890G>A (p.Gly297Asp)
|
rs201826412
|
0.00024
|
|
NM_001374736.1(DST):c.5203A>G (p.Ser1735Gly)
|
rs369218541
|
0.00024
|
|
NM_001374828.1(ARID1B):c.2379T>C (p.His793=)
|
rs370364530
|
0.00024
|
|
NM_001375524.1(TRRAP):c.634-3C>T
|
rs113339948
|
0.00024
|
|
NM_001375808.2(LPIN2):c.1168+6C>T
|
rs200130790
|
0.00024
|
|
NM_001377.3(DYNC2H1):c.5642G>A (p.Arg1881Lys)
|
rs199541807
|
0.00024
|
|
NM_001377.3(DYNC2H1):c.8311+10A>G
|
rs376842066
|
0.00024
|
|
NM_001378120.1(MBD5):c.69G>A (p.Val23=)
|
rs151204004
|
0.00024
|
|
NM_001378183.1(PIEZO2):c.2755G>A (p.Glu919Lys)
|
rs564867814
|
0.00024
|
|
NM_001378454.1(ALMS1):c.8765T>C (p.Ile2922Thr)
|
rs201738475
|
0.00024
|
|
NM_001378609.3(OTOGL):c.2345C>T (p.Pro782Leu)
|
rs200797401
|
0.00024
|
|
NM_001378615.1(CC2D2A):c.4809C>G (p.Pro1603=)
|
rs367841700
|
0.00024
|
|
NM_001457.4(FLNB):c.3594G>A (p.Thr1198=)
|
rs143566075
|
0.00024
|
|
NM_001457.4(FLNB):c.4062-13C>G
|
rs143371162
|
0.00024
|
|
NM_001457.4(FLNB):c.7255G>A (p.Val2419Ile)
|
rs202143851
|
0.00024
|
|
NM_001458.5(FLNC):c.2733G>A (p.Lys911=)
|
rs374135903
|
0.00024
|
|
NM_001458.5(FLNC):c.5221G>A (p.Glu1741Lys)
|
rs200792813
|
0.00024
|
|
NM_001558.4(IL10RA):c.96G>A (p.Val32=)
|
rs377525753
|
0.00024
|
|
NM_001735.3(C5):c.4588+6C>T
|
rs529659789
|
0.00024
|
|
NM_001813.3(CENPE):c.7886G>A (p.Arg2629Gln)
|
rs141321114
|
0.00024
|
|
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser)
|
rs145042175
|
0.00024
|
|
NM_001846.4(COL4A2):c.608A>T (p.His203Leu)
|
rs201716258
|
0.00024
|
|
NM_001848.3(COL6A1):c.1122C>T (p.Gly374=)
|
rs373535692
|
0.00024
|
|
NM_001848.3(COL6A1):c.2045G>A (p.Arg682Gln)
|
rs148962954
|
0.00024
|
|
NM_001849.4(COL6A2):c.1605C>T (p.Pro535=)
|
rs377476546
|
0.00024
|
|
NM_001849.4(COL6A2):c.2937C>T (p.Asp979=)
|
rs150716220
|
0.00024
|
|
NM_001849.4(COL6A2):c.628G>A (p.Glu210Lys)
|
rs113017484
|
0.00024
|
|
NM_001854.4(COL11A1):c.4718C>T (p.Ser1573Leu)
|
rs143531636
|
0.00024
|
|
NM_002024.6(FMR1):c.420-10A>T
|
rs781827082
|
0.00024
|
|
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser)
|
rs192443850
|
0.00024
|
|
NM_002292.4(LAMB2):c.101C>A (p.Ala34Asp)
|
rs202057459
|
0.00024
|
|
NM_002335.4(LRP5):c.1738G>A (p.Val580Ile)
|
rs149524398
|
0.00024
|
|
NM_002473.6(MYH9):c.2591C>T (p.Ala864Val)
|
rs142467329
|
0.00024
|
|
NM_002474.3(MYH11):c.2802G>A (p.Glu934=)
|
rs138977949
|
0.00024
|
|
NM_002693.3(POLG):c.2149C>T (p.Leu717=)
|
rs779515404
|
0.00024
|
|
NM_002693.3(POLG):c.2541C>T (p.Ala847=)
|
rs143810171
|
0.00024
|
|
NM_002693.3(POLG):c.3482+7G>A
|
rs200309191
|
0.00024
|
|
NM_002769.5(PRSS1):c.410C>T (p.Thr137Met)
|
rs117497341
|
0.00024
|
|
NM_003036.4(SKI):c.1321C>T (p.Arg441Trp)
|
rs201613746
|
0.00024
|
|
NM_003052.5(SLC34A1):c.1416+3G>A
|
rs376448083
|
0.00024
|
|
NM_003105.6(SORL1):c.4360C>T (p.Pro1454Ser)
|
rs201304369
|
0.00024
|
|
NM_003119.4(SPG7):c.1359G>A (p.Ala453=)
|
rs115448299
|
0.00024
|
|
NM_003126.4(SPTA1):c.329A>T (p.Glu110Val)
|
rs368253777
|
0.00024
|
|
NM_003322.6(TULP1):c.190+6C>T
|
rs529180227
|
0.00024
|
|
NM_003560.4(PLA2G6):c.773C>T (p.Ser258Leu)
|
rs147924368
|
0.00024
|
|
NM_003664.5(AP3B1):c.2310C>T (p.Asp770=)
|
rs142938290
|
0.00024
|
|
NM_003680.4(YARS1):c.510+10G>C
|
rs201272488
|
0.00024
|
|
NM_003737.4(DCHS1):c.9797C>T (p.Pro3266Leu)
|
rs61735331
|
0.00024
|
|
NM_003742.4(ABCB11):c.1396C>A (p.Gln466Lys)
|
rs200148505
|
0.00024
|
|
NM_003742.4(ABCB11):c.477A>G (p.Gln159=)
|
rs191042013
|
0.00024
|
|
NM_003803.4(MYOM1):c.3548G>A (p.Arg1183Gln)
|
rs147050513
|
0.00024
|
|
NM_003850.3(SUCLA2):c.49C>G (p.Arg17Gly)
|
rs200124902
|
0.00024
|
|
NM_004006.3(DMD):c.6052C>A (p.Leu2018Ile)
|
rs367702968
|
0.00024
|
|
NM_004006.3(DMD):c.9165G>A (p.Thr3055=)
|
rs137905486
|
0.00024
|
|
NM_004239.4(TRIP11):c.5889G>A (p.Ala1963=)
|
rs142075650
|
0.00024
|
|
NM_004260.4(RECQL4):c.2953G>A (p.Val985Met)
|
rs200629599
|
0.00024
|
|
NM_004281.4(BAG3):c.1240G>A (p.Glu414Lys)
|
rs117749531
|
0.00024
|
|
NM_004304.5(ALK):c.3691C>T (p.Arg1231Trp)
|
rs771475772
|
0.00024
|
|
NM_004366.6(CLCN2):c.2062C>T (p.Arg688Trp)
|
rs368380934
|
0.00024
|
|
NM_004370.6(COL12A1):c.8548A>G (p.Met2850Val)
|
rs369104842
|
0.00024
|
|
NM_004456.5(EZH2):c.165C>G (p.Ile55Met)
|
rs199645805
|
0.00024
|
|
NM_004525.3(LRP2):c.5107C>T (p.Pro1703Ser)
|
rs141260047
|
0.00024
|
|
NM_004526.4(MCM2):c.1454T>C (p.Ile485Thr)
|
rs139336906
|
0.00024
|
|
NM_004560.4(ROR2):c.1671G>A (p.Ser557=)
|
rs201232887
|
0.00024
|
|
NM_004863.4(SPTLC2):c.851-5T>C
|
rs199867946
|
0.00024
|
|
NM_004991.4(MECOM):c.1355A>C (p.Asp452Ala)
|
rs145677287
|
0.00024
|
|
NM_005045.4(RELN):c.1108G>C (p.Gly370Arg)
|
rs143050366
|
0.00024
|
|
NM_005045.4(RELN):c.4872A>G (p.Gln1624=)
|
rs149121159
|
0.00024
|
|
NM_005373.3(MPL):c.549G>A (p.Thr183=)
|
rs147130173
|
0.00024
|
|
NM_005379.4(MYO1A):c.1667C>T (p.Ser556Phe)
|
rs571906190
|
0.00024
|
|
NM_005422.4(TECTA):c.4633G>A (p.Val1545Ile)
|
rs377156351
|
0.00024
|
|
NM_005518.4(HMGCS2):c.570C>T (p.Ala190=)
|
rs201735169
|
0.00024
|
|
NM_005529.7(HSPG2):c.11853A>G (p.Leu3951=)
|
rs138957986
|
0.00024
|
|
NM_005529.7(HSPG2):c.9060G>A (p.Arg3020=)
|
rs372508479
|
0.00024
|
|
NM_005560.6(LAMA5):c.6206C>T (p.Pro2069Leu)
|
rs201193135
|
0.00024
|
|
NM_005732.4(RAD50):c.1336A>G (p.Lys446Glu)
|
rs149217423
|
0.00024
|
|
NM_005787.6(ALG3):c.933-4C>T
|
rs190571910
|
0.00024
|
|
NM_006035.4(CDC42BPB):c.2012G>A (p.Arg671Gln)
|
rs55948035
|
0.00024
|
|
NM_006206.6(PDGFRA):c.801A>G (p.Pro267=)
|
rs55966236
|
0.00024
|
|
NM_006231.4(POLE):c.1021G>T (p.Ala341Ser)
|
rs137860861
|
0.00024
|
|
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr)
|
rs201115064
|
0.00024
|
|
NM_006445.4(PRPF8):c.1253C>G (p.Thr418Ser)
|
rs142411659
|
0.00024
|
|
NM_006445.4(PRPF8):c.1869G>C (p.Lys623Asn)
|
rs200389505
|
0.00024
|
|
NM_006486.3(FBLN1):c.1074C>T (p.Asp358=)
|
rs147528917
|
0.00024
|
|
NM_006767.4(LZTR1):c.1333G>A (p.Val445Met)
|
rs201070853
|
0.00024
|
|
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met)
|
rs139469785
|
0.00024
|
|
NM_006922.4(SCN3A):c.4335T>C (p.Tyr1445=)
|
rs145492863
|
0.00024
|
|
NM_007078.3(LDB3):c.1606G>A (p.Val536Ile)
|
rs113817827
|
0.00024
|
|
NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys)
|
rs80357257
|
0.00024
|
|
NM_007315.4(STAT1):c.1248C>G (p.Gly416=)
|
rs140787216
|
0.00024
|
|
NM_007327.4(GRIN1):c.2444-14G>A
|
rs191352124
|
0.00024
|
|
NM_007347.5(AP4E1):c.1624A>G (p.Met542Val)
|
rs542940704
|
0.00024
|
|
NM_012301.4(MAGI2):c.411G>A (p.Thr137=)
|
rs149568072
|
0.00024
|
|
NM_012330.4(KAT6B):c.5749A>G (p.Ile1917Val)
|
rs199662367
|
0.00024
|
|
NM_012418.4(FSCN2):c.867C>T (p.His289=)
|
rs368687488
|
0.00024
|
|
NM_014251.3(SLC25A13):c.882T>C (p.Ala294=)
|
rs138094550
|
0.00024
|
|
NM_014363.6(SACS):c.2806C>A (p.Gln936Lys)
|
rs61978562
|
0.00024
|
|
NM_014363.6(SACS):c.8577C>T (p.His2859=)
|
rs140016265
|
0.00024
|
|
NM_014915.3(ANKRD26):c.2232T>A (p.Asn744Lys)
|
rs368921201
|
0.00024
|
|
NM_014915.3(ANKRD26):c.3761A>G (p.Asp1254Gly)
|
rs368705077
|
0.00024
|
|
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly)
|
rs142053576
|
0.00024
|
|
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr)
|
rs202004152
|
0.00024
|
|
NM_015338.6(ASXL1):c.2336C>T (p.Pro779Leu)
|
rs41289850
|
0.00024
|
|
NM_015338.6(ASXL1):c.4493C>T (p.Thr1498Met)
|
rs150119795
|
0.00024
|
|
NM_015443.4(KANSL1):c.2725-7A>G
|
rs186818985
|
0.00024
|
|
NM_015599.3(PGM3):c.1085A>T (p.Glu362Val)
|
rs34238319
|
0.00024
|
|
NM_015627.3(LDLRAP1):c.907G>A (p.Asp303Asn)
|
rs199605881
|
0.00024
|
|
NM_015991.4(C1QA):c.581A>C (p.Asn194Thr)
|
rs201816009
|
0.00024
|
|
NM_016004.5(IFT52):c.775G>C (p.Asp259His)
|
rs149821266
|
0.00024
|
|
NM_016204.4(GDF2):c.221G>A (p.Gly74Glu)
|
rs151296940
|
0.00024
|
|
NM_016239.4(MYO15A):c.10076C>T (p.Pro3359Leu)
|
rs201763265
|
0.00024
|
|
NM_016239.4(MYO15A):c.4142+6T>C
|
rs368090576
|
0.00024
|
|
NM_016341.4(PLCE1):c.1295C>G (p.Ala432Gly)
|
rs200380935
|
0.00024
|
|
NM_016553.5(NUP62):c.337G>A (p.Gly113Ser)
|
rs200398387
|
0.00024
|
|
NM_017547.4(FOXRED1):c.1252C>G (p.Gln418Glu)
|
rs201261500
|
0.00024
|
|
NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu)
|
rs375897519
|
0.00024
|
|
NM_017739.4(POMGNT1):c.1786-6C>T
|
rs202028128
|
0.00024
|
|
NM_018100.4(EFHC1):c.1675T>C (p.Leu559=)
|
rs145194882
|
0.00024
|
|
NM_018297.4(NGLY1):c.869A>G (p.Asn290Ser)
|
rs370175393
|
0.00024
|
|
NM_018685.5(ANLN):c.140C>G (p.Ala47Gly)
|
rs35765596
|
0.00024
|
|
NM_019066.5(MAGEL2):c.135T>A (p.Asp45Glu)
|
rs1273933786
|
0.00024
|
|
NM_020366.4(RPGRIP1):c.2435G>A (p.Arg812Gln)
|
rs190490019
|
0.00024
|
|
NM_020549.5(CHAT):c.858C>T (p.Thr286=)
|
rs200423662
|
0.00024
|
|
NM_020754.4(ARHGAP31):c.435C>G (p.Thr145=)
|
rs201927115
|
0.00024
|
|
NM_020778.5(ALPK3):c.2528G>A (p.Arg843Gln)
|
rs114988007
|
0.00024
|
|
NM_020975.6(RET):c.785T>C (p.Val262Ala)
|
rs139790943
|
0.00024
|
|
NM_020987.5(ANK3):c.11090C>G (p.Ser3697Cys)
|
rs148109897
|
0.00024
|
|
NM_020987.5(ANK3):c.5981C>T (p.Ser1994Leu)
|
rs141251507
|
0.00024
|
|
NM_021098.3(CACNA1H):c.1517G>A (p.Arg506Gln)
|
rs532223684
|
0.00024
|
|
NM_021098.3(CACNA1H):c.1754C>T (p.Pro585Leu)
|
rs372367313
|
0.00024
|
|
NM_021942.6(TRAPPC11):c.1894-10C>T
|
rs111381550
|
0.00024
|
|
NM_022089.4(ATP13A2):c.3258G>A (p.Ala1086=)
|
rs377253172
|
0.00024
|
|
NM_022089.4(ATP13A2):c.3429C>T (p.Pro1143=)
|
rs377703085
|
0.00024
|
|
NM_022367.4(SEMA4A):c.1086A>C (p.Ser362=)
|
rs145993678
|
0.00024
|
|
NM_022725.4(FANCF):c.573C>G (p.Ser191Arg)
|
rs146219377
|
0.00024
|
|
NM_022726.4(ELOVL4):c.651C>T (p.Tyr217=)
|
rs199860277
|
0.00024
|
|
NM_024105.4(ALG12):c.470-11C>T
|
rs375328311
|
0.00024
|
|
NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His)
|
rs116911972
|
0.00024
|
|
NM_024334.3(TMEM43):c.564C>T (p.Gly188=)
|
rs143124744
|
0.00024
|
|
NM_024407.5(NDUFS7):c.456-16G>A
|
rs370241999
|
0.00024
|
|
NM_024422.6(DSC2):c.857G>T (p.Gly286Val)
|
rs199682735
|
0.00024
|
|
NM_025009.5(CEP135):c.142C>T (p.Arg48Trp)
|
rs202084972
|
0.00024
|
|
NM_025099.6(CTC1):c.34-9T>G
|
rs201195157
|
0.00024
|
|
NM_025099.6(CTC1):c.862G>A (p.Val288Met)
|
rs201553464
|
0.00024
|
|
NM_025137.4(SPG11):c.491C>T (p.Ser164Leu)
|
rs148175530
|
0.00024
|
|
NM_030665.4(RAI1):c.109G>A (p.Gly37Arg)
|
rs201393598
|
0.00024
|
|
NM_030665.4(RAI1):c.3589G>C (p.Gly1197Arg)
|
rs200719553
|
0.00024
|
|
NM_031885.5(BBS2):c.1104C>T (p.Asn368=)
|
rs141731677
|
0.00024
|
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
|
NM_032444.4(SLX4):c.4590G>A (p.Met1530Ile)
|
rs147315419
|
0.00024
|
|
NM_032444.4(SLX4):c.742G>A (p.Glu248Lys)
|
rs148547201
|
0.00024
|
|
NM_032634.4(PIGO):c.2635G>A (p.Val879Ile)
|
rs139155910
|
0.00024
|
|
NM_032634.4(PIGO):c.794G>A (p.Arg265His)
|
rs200924324
|
0.00024
|
|
NM_032833.5(PPP1R15B):c.308A>G (p.Tyr103Cys)
|
rs137955986
|
0.00024
|
|
NM_033100.4(CDHR1):c.689C>T (p.Thr230Ile)
|
rs141173656
|
0.00024
|
|
NM_057175.5(NAA15):c.2350A>G (p.Ile784Val)
|
rs201001193
|
0.00024
|
|
NM_058216.3(RAD51C):c.145+12T>G
|
rs377297129
|
0.00024
|
|
NM_080680.3(COL11A2):c.2536C>T (p.Arg846Trp)
|
rs149071920
|
0.00024
|
|
NM_133259.4(LRPPRC):c.4132A>G (p.Ser1378Gly)
|
rs149693840
|
0.00024
|
|
NM_133379.5(TTN):c.15302A>G (p.Glu5101Gly)
|
rs142973956
|
0.00024
|
|
NM_133433.4(NIPBL):c.5101T>C (p.Ser1701Pro)
|
rs139819353
|
0.00024
|
|
NM_133459.4(CCBE1):c.966G>A (p.Ala322=)
|
rs144169027
|
0.00024
|
|
NM_138694.4(PKHD1):c.1257C>T (p.Val419=)
|
rs374650666
|
0.00024
|
|
NM_138694.4(PKHD1):c.6216T>G (p.Pro2072=)
|
rs148817026
|
0.00024
|
|
NM_144997.7(FLCN):c.715C>T (p.Arg239Cys)
|
rs78683075
|
0.00024
|
|
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=)
|
rs141324814
|
0.00024
|
|
NM_153033.5(KCTD7):c.687T>C (p.Asp229=)
|
rs372150992
|
0.00024
|
|
NM_172201.2(KCNE2):c.161T>C (p.Met54Thr)
|
rs74315447
|
0.00024
|
|
NM_173689.7(CRB2):c.1429C>T (p.Arg477Cys)
|
rs146271715
|
0.00024
|
|
NM_175914.5(HNF4A):c.582+20G>C
|
rs370794722
|
0.00024
|
|
NM_178335.3(CCDC50):c.1144G>A (p.Ala382Thr)
|
rs143628723
|
0.00024
|
|
NM_182961.4(SYNE1):c.11355G>A (p.Arg3785=)
|
rs151081036
|
0.00024
|
|
NM_182961.4(SYNE1):c.12225+4G>A
|
rs770448083
|
0.00024
|
|
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln)
|
rs200812806
|
0.00024
|
|
NM_182961.4(SYNE1):c.22235G>A (p.Arg7412His)
|
rs200135486
|
0.00024
|
|
NM_194248.3(OTOF):c.327+5G>T
|
rs370643920
|
0.00024
|
|
NM_194248.3(OTOF):c.5083G>A (p.Asp1695Asn)
|
rs144422709
|
0.00024
|
|
NM_198525.3(KIF7):c.2613G>A (p.Glu871=)
|
rs370595622
|
0.00024
|
|
NM_201384.3(PLEC):c.12837C>T (p.Pro4279=)
|
rs759030267
|
0.00024
|
|
NM_201384.3(PLEC):c.7061C>T (p.Ala2354Val)
|
rs370003608
|
0.00024
|
|
NM_201384.3(PLEC):c.7339C>T (p.Arg2447Cys)
|
rs781936848
|
0.00024
|
|
NM_203446.3(SYNJ1):c.2874+5G>A
|
rs371765751
|
0.00024
|
|
NM_206933.4(USH2A):c.14642G>C (p.Ser4881Thr)
|
rs200949691
|
0.00024
|
|
NM_213607.3(CCDC103):c.31G>C (p.Ala11Pro)
|
rs146015856
|
0.00024
|
|
NM_213655.5(WNK1):c.3371G>A (p.Gly1124Glu)
|
rs201042606
|
0.00024
|
|
NM_000033.4(ABCD1):c.249C>T (p.Phe83=)
|
rs782628755
|
0.00023
|
|
NM_000037.4(ANK1):c.3298G>A (p.Val1100Ile)
|
rs147741842
|
0.00023
|
|
NM_000038.6(APC):c.6526T>C (p.Leu2176=)
|
rs183468041
|
0.00023
|
|
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)
|
rs56087561
|
0.00023
|
|
NM_000064.4(C3):c.1873A>T (p.Ile625Phe)
|
rs144432231
|
0.00023
|
|
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr)
|
rs139955975
|
0.00023
|
|
NM_000088.4(COL1A1):c.3849C>A (p.Asn1283Lys)
|
rs199911681
|
0.00023
|
|
NM_000090.4(COL3A1):c.1815+5G>A
|
rs146652498
|
0.00023
|
|
NM_000091.5(COL4A3):c.532G>A (p.Ala178Thr)
|
rs188324379
|
0.00023
|
|
NM_000102.4(CYP17A1):c.1458C>T (p.Ile486=)
|
rs147557447
|
0.00023
|
|
NM_000138.5(FBN1):c.6314-15G>A
|
rs200841830
|
0.00023
|
|
NM_000143.4(FH):c.4T>C (p.Tyr2His)
|
rs112335468
|
0.00023
|
|
NM_000152.5(GAA):c.2040+17G>A
|
rs534129336
|
0.00023
|
|
NM_000153.4(GALC):c.1717A>G (p.Thr573Ala)
|
rs200219480
|
0.00023
|
|
NM_000179.3(MSH6):c.73G>T (p.Ala25Ser)
|
rs267608026
|
0.00023
|
|
NM_000190.4(HMBS):c.380C>A (p.Pro127Gln)
|
rs200998739
|
0.00023
|
|
NM_000199.5(SGSH):c.780C>T (p.Ala260=)
|
rs530964770
|
0.00023
|
|
NM_000238.4(KCNH2):c.2729C>T (p.Pro910Leu)
|
rs199473436
|
0.00023
|
|
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys)
|
rs201839693
|
0.00023
|
|
NM_000260.4(MYO7A):c.3038C>T (p.Thr1013Ile)
|
rs369539923
|
0.00023
|
|
NM_000275.3(OCA2):c.647-3G>A
|
rs572955525
|
0.00023
|
|
NM_000277.3(PAH):c.1161C>T (p.Tyr387=)
|
rs149595475
|
0.00023
|
|
NM_000284.4(PDHA1):c.894A>G (p.Gly298=)
|
rs1329322647
|
0.00023
|
|
NM_000290.4(PGAM2):c.288A>G (p.Thr96=)
|
rs139561812
|
0.00023
|
|
NM_000335.5(SCN5A):c.496G>A (p.Ala166Thr)
|
rs201232332
|
0.00023
|
|
NM_000368.5(TSC1):c.615T>C (p.Ser205=)
|
rs118203414
|
0.00023
|
|
NM_000382.3(ALDH3A2):c.1108-3C>T
|
rs148944691
|
0.00023
|
|
NM_000426.4(LAMA2):c.6002G>A (p.Arg2001Lys)
|
rs151009169
|
0.00023
|
|
NM_000540.3(RYR1):c.13477C>G (p.Pro4493Ala)
|
rs149455643
|
0.00023
|
|
NM_000718.4(CACNA1B):c.5869C>T (p.Arg1957Cys)
|
rs200598077
|
0.00023
|
|
NM_000744.7(CHRNA4):c.1538G>A (p.Arg513His)
|
rs868845088
|
0.00023
|
|
NM_001001548.3(CD36):c.649G>A (p.Gly217Arg)
|
rs200067322
|
0.00023
|
|
NM_001005242.3(PKP2):c.1379-2025G>A
|
rs537458442
|
0.00023
|
|
NM_001009944.3(PKD1):c.9187C>T (p.Arg3063Cys)
|
rs145906459
|
0.00023
|
|
NM_001035.3(RYR2):c.8060G>A (p.Ser2687Asn)
|
rs202020477
|
0.00023
|
|
NM_001038603.3(MARVELD2):c.30G>A (p.Arg10=)
|
rs143592561
|
0.00023
|
|
NM_001039141.3(TRIOBP):c.1283C>G (p.Pro428Arg)
|
rs372134073
|
0.00023
|
|
NM_001039141.3(TRIOBP):c.1772A>G (p.Asn591Ser)
|
rs764911741
|
0.00023
|
|
NM_001040142.2(SCN2A):c.5397T>C (p.Tyr1799=)
|
rs200603552
|
0.00023
|
|
NM_001079855.2(GYG2):c.799G>A (p.Val267Ile)
|
rs146066080
|
0.00023
|
|
NM_001099922.3(ALG13):c.3143C>G (p.Ala1048Gly)
|
rs773401427
|
0.00023
|
|
NM_001110556.2(FLNA):c.237G>C (p.Ala79=)
|
rs200626788
|
0.00023
|
|
NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys)
|
rs200524526
|
0.00023
|
|
NM_001122630.2(CDKN1C):c.319C>G (p.Pro107Ala)
|
rs772684721
|
0.00023
|
|
NM_001130823.3(DNMT1):c.575C>T (p.Ala192Val)
|
rs62621089
|
0.00023
|
|
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe)
|
rs201819948
|
0.00023
|
|
NM_001148.6(ANK2):c.10703G>A (p.Arg3568Gln)
|
rs142612379
|
0.00023
|
|
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys)
|
rs34591340
|
0.00023
|
|
NM_001148.6(ANK2):c.9424A>C (p.Thr3142Pro)
|
rs374350634
|
0.00023
|
|
NM_001164508.2(NEB):c.1899A>T (p.Arg633Ser)
|
rs77826191
|
0.00023
|
|
NM_001164508.2(NEB):c.5181C>T (p.Tyr1727=)
|
rs35016946
|
0.00023
|
|
NM_001166114.2(PNPLA6):c.225A>G (p.Arg75=)
|
rs553088930
|
0.00023
|
|
NM_001193315.2(VIPAS39):c.171C>G (p.Val57=)
|
rs144120903
|
0.00023
|
|
NM_001206979.2(NR1H4):c.438G>A (p.Gly146=)
|
rs137946171
|
0.00023
|
|
NM_001231.5(CASQ1):c.1061C>T (p.Ala354Val)
|
rs147541452
|
0.00023
|
|
NM_001235.5(SERPINH1):c.293G>A (p.Ser98Asn)
|
rs541595707
|
0.00023
|
|
NM_001242896.3(DEPDC5):c.968A>G (p.Asn323Ser)
|
rs201776005
|
0.00023
|
|
NM_001256545.2(MEGF10):c.50G>A (p.Cys17Tyr)
|
rs145733370
|
0.00023
|
|
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln)
|
rs199632397
|
0.00023
|
|
NM_001267550.2(TTN):c.23387G>A (p.Arg7796Gln)
|
rs267599059
|
0.00023
|
|
NM_001267550.2(TTN):c.25066C>T (p.Arg8356Cys)
|
rs201810836
|
0.00023
|
|
NM_001267550.2(TTN):c.51678C>T (p.Asn17226=)
|
rs372635204
|
0.00023
|
|
NM_001267550.2(TTN):c.59344+3G>A
|
rs142095604
|
0.00023
|
|
NM_001267550.2(TTN):c.6584A>G (p.Glu2195Gly)
|
rs202032875
|
0.00023
|
|
NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala)
|
rs377016580
|
0.00023
|
|
NM_001267550.2(TTN):c.95722T>C (p.Tyr31908His)
|
rs199781261
|
0.00023
|
|
NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala)
|
rs368877793
|
0.00023
|
|
NM_001277115.2(DNAH11):c.12601C>T (p.Pro4201Ser)
|
rs200166341
|
0.00023
|
|
NM_001277115.2(DNAH11):c.12899G>A (p.Arg4300His)
|
rs377388499
|
0.00023
|
|
NM_001277115.2(DNAH11):c.618G>C (p.Met206Ile)
|
rs374350787
|
0.00023
|
|
NM_001291303.3(FAT4):c.7196T>C (p.Ile2399Thr)
|
rs140285782
|
0.00023
|
|
NM_001292063.2(OTOG):c.2350A>C (p.Thr784Pro)
|
rs778687487
|
0.00023
|
|
NM_001365088.1(SLC12A6):c.1012C>T (p.Arg338Cys)
|
rs77122016
|
0.00023
|
|
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=)
|
rs200014315
|
0.00023
|
|
NM_001369.3(DNAH5):c.10066T>C (p.Leu3356=)
|
rs138441172
|
0.00023
|
|
NM_001370259.2(MEN1):c.-6G>A
|
rs768088337
|
0.00023
|
|
NM_001378414.1(HDAC4):c.3058C>T (p.Arg1020Cys)
|
rs201219118
|
0.00023
|
|
NM_001378452.1(ITPR1):c.532A>G (p.Ile178Val)
|
rs188477537
|
0.00023
|
|
NM_001378452.1(ITPR1):c.5365G>A (p.Gly1789Arg)
|
rs373359869
|
0.00023
|
|
NM_001378454.1(ALMS1):c.11070C>T (p.Gly3690=)
|
rs371329585
|
0.00023
|
|
NM_001384732.1(CPLANE1):c.1456G>A (p.Asp486Asn)
|
rs374411782
|
0.00023
|
|
NM_001395413.1(POR):c.1482G>T (p.Leu494=)
|
rs370326231
|
0.00023
|
|
NM_001457.4(FLNB):c.4966G>C (p.Asp1656His)
|
rs574654024
|
0.00023
|
|
NM_001558.4(IL10RA):c.781C>T (p.Arg261Trp)
|
rs201396764
|
0.00023
|
|
NM_001692.4(ATP6V1B1):c.77T>C (p.Met26Thr)
|
rs527738649
|
0.00023
|
|
NM_001844.5(COL2A1):c.3699C>T (p.Pro1233=)
|
rs141944722
|
0.00023
|
|
NM_002386.4(MC1R):c.832A>G (p.Lys278Glu)
|
rs201171524
|
0.00023
|
|
NM_002529.4(NTRK1):c.641G>A (p.Arg214Gln)
|
rs200132482
|
0.00023
|
|
NM_002653.5(PITX1):c.262A>C (p.Lys88Gln)
|
rs200888898
|
0.00023
|
|
NM_002693.3(POLG):c.408C>G (p.Asp136Glu)
|
rs115109291
|
0.00023
|
|
NM_002968.3(SALL1):c.3750C>T (p.Asn1250=)
|
rs142653419
|
0.00023
|
|
NM_003036.4(SKI):c.2183C>T (p.Pro728Leu)
|
rs372950890
|
0.00023
|
|
NM_003060.4(SLC22A5):c.-26G>A
|
rs369724970
|
0.00023
|
|
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys)
|
rs150775371
|
0.00023
|
|
NM_003244.4(TGIF1):c.16+1564G>A
|
rs202123354
|
0.00023
|
|
NM_003482.4(KMT2D):c.5181C>T (p.Pro1727=)
|
rs201686029
|
0.00023
|
|
NM_003742.4(ABCB11):c.23G>A (p.Arg8Gln)
|
rs368985605
|
0.00023
|
|
NM_003742.4(ABCB11):c.506G>A (p.Arg169His)
|
rs200870815
|
0.00023
|
|
NM_004006.3(DMD):c.1337A>G (p.His446Arg)
|
rs72468699
|
0.00023
|
|
NM_004006.3(DMD):c.884G>A (p.Arg295Gln)
|
rs377587957
|
0.00023
|
|
NM_004304.5(ALK):c.1100C>G (p.Pro367Arg)
|
rs144030155
|
0.00023
|
|
NM_004360.5(CDH1):c.8C>G (p.Pro3Arg)
|
rs587782484
|
0.00023
|
|
NM_004370.6(COL12A1):c.6448T>C (p.Tyr2150His)
|
rs200450866
|
0.00023
|
|
NM_004415.4(DSP):c.2794-4dup
|
rs397516924
|
0.00023
|
|
NM_004646.4(NPHS1):c.65C>T (p.Ala22Val)
|
rs116617171
|
0.00023
|
|
NM_004722.4(AP4M1):c.1342G>A (p.Ala448Thr)
|
rs147738731
|
0.00023
|
|
NM_004752.4(GCM2):c.1395C>T (p.His465=)
|
rs139538731
|
0.00023
|
|
NM_005101.4(ISG15):c.296G>A (p.Arg99Gln)
|
rs374404353
|
0.00023
|
|
NM_005219.5(DIAPH1):c.685-5A>G
|
rs367786290
|
0.00023
|
|
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=)
|
rs144434028
|
0.00023
|
|
NM_005373.3(MPL):c.1666G>T (p.Val556Phe)
|
rs150004498
|
0.00023
|
|
NM_005476.7(GNE):c.843C>T (p.His281=)
|
rs138694766
|
0.00023
|
|
NM_005529.7(HSPG2):c.4971C>T (p.Tyr1657=)
|
rs138459752
|
0.00023
|
|
NM_005529.7(HSPG2):c.8025+20C>T
|
rs146363738
|
0.00023
|
|
NM_005591.4(MRE11):c.1286T>C (p.Val429Ala)
|
rs141293060
|
0.00023
|
|
NM_005676.5(RBM10):c.2175G>T (p.Pro725=)
|
rs137940243
|
0.00023
|
|
NM_006005.3(WFS1):c.2250C>T (p.Ala750=)
|
rs369498603
|
0.00023
|
|
NM_006231.4(POLE):c.5379-19C>T
|
rs376722984
|
0.00023
|
|
NM_006231.4(POLE):c.691C>T (p.Arg231Cys)
|
rs146592584
|
0.00023
|
|
NM_006231.4(POLE):c.761C>T (p.Pro254Leu)
|
rs200211438
|
0.00023
|
|
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys)
|
rs28897676
|
0.00023
|
|
NM_007327.4(GRIN1):c.1005T>C (p.Thr335=)
|
rs145176345
|
0.00023
|
|
NM_013275.6(ANKRD11):c.6580C>G (p.Gln2194Glu)
|
rs201589586
|
0.00023
|
|
NM_014159.7(SETD2):c.19C>T (p.Gln7Ter)
|
rs541943893
|
0.00023
|
|
NM_014336.5(AIPL1):c.383C>T (p.Ala128Val)
|
rs145466901
|
0.00023
|
|
NM_014391.3(ANKRD1):c.652-10A>T
|
rs397517252
|
0.00023
|
|
NM_014855.3(AP5Z1):c.1785G>T (p.Gly595=)
|
rs774921196
|
0.00023
|
|
NM_015192.4(PLCB1):c.714A>C (p.Pro238=)
|
rs147567110
|
0.00023
|
|
NM_015335.5(MED13L):c.3866C>T (p.Pro1289Leu)
|
rs200187663
|
0.00023
|
|
NM_015340.4(LARS2):c.338G>A (p.Arg113Gln)
|
rs138437422
|
0.00023
|
|
NM_015627.3(LDLRAP1):c.344+4C>T
|
rs371561646
|
0.00023
|
|
NM_016006.6(ABHD5):c.26A>G (p.Asp9Gly)
|
rs144420157
|
0.00023
|
|
NM_016169.4(SUFU):c.50C>T (p.Ala17Val)
|
rs12780580
|
0.00023
|
|
NM_017636.4(TRPM4):c.1836G>A (p.Arg612=)
|
rs112589404
|
0.00023
|
|
NM_017654.4(SAMD9):c.1880del (p.Ser627fs)
|
rs767270627
|
0.00023
|
|
NM_017780.4(CHD7):c.6711C>T (p.Ser2237=)
|
rs370385319
|
0.00023
|
|
NM_018249.6(CDK5RAP2):c.923C>T (p.Thr308Ile)
|
rs145272328
|
0.00023
|
|
NM_018668.5(VPS33B):c.1658-7C>T
|
rs375376103
|
0.00023
|
|
NM_018668.5(VPS33B):c.240-9C>T
|
rs781107857
|
0.00023
|
|
NM_020549.5(CHAT):c.754C>T (p.His252Tyr)
|
rs376994468
|
0.00023
|
|
NM_020778.5(ALPK3):c.2674G>A (p.Gly892Arg)
|
rs145983200
|
0.00023
|
|
NM_020975.6(RET):c.874G>A (p.Val292Met)
|
rs34682185
|
0.00023
|
|
NM_021076.4(NEFH):c.1036C>T (p.Arg346Cys)
|
rs139219355
|
0.00023
|
|
NM_021939.4(FKBP10):c.850G>A (p.Gly284Arg)
|
rs372214186
|
0.00023
|
|
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met)
|
rs201297042
|
0.00023
|
|
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His)
|
rs140884994
|
0.00023
|
|
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg)
|
rs147109895
|
0.00023
|
|
NM_024996.7(GFM1):c.373G>A (p.Val125Met)
|
rs200923387
|
0.00023
|
|
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly)
|
rs144095826
|
0.00023
|
|
NM_033641.4(COL4A6):c.3886C>T (p.Pro1296Ser)
|
rs138267158
|
0.00023
|
|
NM_052867.4(NALCN):c.722C>T (p.Pro241Leu)
|
rs764444847
|
0.00023
|
|
NM_053025.4(MYLK):c.4184T>C (p.Leu1395Pro)
|
rs146576868
|
0.00023
|
|
NM_080916.3(DGUOK):c.664C>T (p.Leu222=)
|
rs375686551
|
0.00023
|
|
NM_130849.4(SLC39A4):c.615C>T (p.Phe205=)
|
rs201681875
|
0.00023
|
|
NM_138694.4(PKHD1):c.935G>A (p.Arg312Gln)
|
rs140781915
|
0.00023
|
|
NM_152564.5(VPS13B):c.2124T>C (p.Ala708=)
|
rs201650333
|
0.00023
|
|
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr)
|
rs375991767
|
0.00023
|
|
NM_181332.3(NLGN4X):c.1305G>A (p.Thr435=)
|
rs149512448
|
0.00023
|
|
NM_182914.3(SYNE2):c.13792G>A (p.Glu4598Lys)
|
rs144702281
|
0.00023
|
|
NM_182961.4(SYNE1):c.2569-8C>T
|
rs376033376
|
0.00023
|
|
NM_183357.3(ADCY5):c.2645C>T (p.Ala882Val)
|
rs112913957
|
0.00023
|
|
NM_194454.3(KRIT1):c.1326C>G (p.Thr442=)
|
rs150912644
|
0.00023
|
|
NM_198271.5(LMOD3):c.1667C>A (p.Pro556Gln)
|
rs201205115
|
0.00023
|
|
NM_198578.4(LRRK2):c.6801C>T (p.Thr2267=)
|
rs148143226
|
0.00023
|
|
NM_198904.4(GABRG2):c.922+6A>G
|
rs375294947
|
0.00023
|
|
NM_201384.3(PLEC):c.5811G>A (p.Ala1937=)
|
rs199990259
|
0.00023
|
|
NM_206933.4(USH2A):c.5039A>G (p.Lys1680Arg)
|
rs150982499
|
0.00023
|
|
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg)
|
rs150230450
|
0.00023
|
|
NM_212552.3(BOLA3):c.137G>A (p.Arg46Gln)
|
rs144366005
|
0.00023
|
|
NM_213653.4(HJV):c.435G>C (p.Pro145=)
|
rs370184725
|
0.00023
|
|
NM_000030.3(AGXT):c.145A>C (p.Met49Leu)
|
rs74205173
|
0.00022
|
|
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser)
|
rs200756935
|
0.00022
|
|
NM_000051.4(ATM):c.2281A>T (p.Thr761Ser)
|
rs2235011
|
0.00022
|
|
NM_000051.4(ATM):c.6537T>G (p.Ile2179Met)
|
rs146243469
|
0.00022
|
|
NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=)
|
rs200324179
|
0.00022
|
|
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly)
|
rs68071147
|
0.00022
|
|
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile)
|
rs28897755
|
0.00022
|
|
NM_000059.4(BRCA2):c.9502-12T>G
|
rs81002803
|
0.00022
|
|
NM_000077.5(CDKN2A):c.373G>C (p.Asp125His)
|
rs146179135
|
0.00022
|
|
NM_000081.4(LYST):c.2754G>A (p.Glu918=)
|
rs373577384
|
0.00022
|
|
NM_000091.5(COL4A3):c.2699T>C (p.Ile900Thr)
|
rs201665434
|
0.00022
|
|
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser)
|
rs200512461
|
0.00022
|
|
NM_000098.3(CPT2):c.912G>T (p.Gln304His)
|
rs141553491
|
0.00022
|
|
NM_000108.5(DLD):c.321A>G (p.Ala107=)
|
rs138398782
|
0.00022
|
|
NM_000112.4(SLC26A2):c.1512G>A (p.Met504Ile)
|
rs76668544
|
0.00022
|
|
NM_000135.4(FANCA):c.1871C>G (p.Ala624Gly)
|
rs146491000
|
0.00022
|
|
NM_000135.4(FANCA):c.3801C>T (p.Gly1267=)
|
rs143772894
|
0.00022
|
|
NM_000137.4(FAH):c.747A>G (p.Pro249=)
|
rs138757552
|
0.00022
|
|
NM_000143.4(FH):c.1237-7C>T
|
rs376260223
|
0.00022
|
|
NM_000143.4(FH):c.7C>G (p.Arg3Gly)
|
rs202166344
|
0.00022
|
|
NM_000152.5(GAA):c.1599C>T (p.Cys533=)
|
rs142766716
|
0.00022
|
|
NM_000157.4(GBA1):c.1224G>A (p.Thr408=)
|
rs138498426
|
0.00022
|
|
NM_000181.4(GUSB):c.1240C>T (p.Leu414=)
|
rs150686327
|
0.00022
|
|
NM_000209.4(PDX1):c.418G>A (p.Ala140Thr)
|
rs143517122
|
0.00022
|
|
NM_000214.3(JAG1):c.1348+3G>A
|
rs368718180
|
0.00022
|
|
NM_000222.3(KIT):c.2349C>T (p.Leu783=)
|
rs151046591
|
0.00022
|
|
NM_000235.4(LIPA):c.1009A>G (p.Thr337Ala)
|
rs143793106
|
0.00022
|
|
NM_000237.3(LPL):c.687T>C (p.His229=)
|
rs45607438
|
0.00022
|
|
NM_000238.4(KCNH2):c.2941A>G (p.Ser981Gly)
|
rs76649554
|
0.00022
|
|
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile)
|
rs149955375
|
0.00022
|
|
NM_000240.4(MAOA):c.1559A>G (p.Lys520Arg)
|
rs1800466
|
0.00022
|
|
NM_000245.4(MET):c.1076G>A (p.Arg359Gln)
|
rs201274041
|
0.00022
|
|
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg)
|
rs63750702
|
0.00022
|
|
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser)
|
rs41295288
|
0.00022
|
|
NM_000260.4(MYO7A):c.2208G>A (p.Leu736=)
|
rs373599360
|
0.00022
|
|
NM_000260.4(MYO7A):c.6546C>T (p.Cys2182=)
|
rs185748200
|
0.00022
|
|
NM_000271.5(NPC1):c.471C>T (p.Tyr157=)
|
rs145101354
|
0.00022
|
|
NM_000290.4(PGAM2):c.707A>C (p.Glu236Ala)
|
rs140230479
|
0.00022
|
|
NM_000295.5(SERPINA1):c.-4G>A
|
rs374417614
|
0.00022
|
|
NM_000301.5(PLG):c.1499C>T (p.Thr500Met)
|
rs140970354
|
0.00022
|
|
NM_000350.3(ABCA4):c.1155C>T (p.Ile385=)
|
rs376624031
|
0.00022
|
|
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val)
|
rs139486832
|
0.00022
|
|
NM_000360.4(TH):c.12C>T (p.Pro4=)
|
rs147131010
|
0.00022
|
|
NM_000361.3(THBD):c.282C>G (p.Pro94=)
|
rs538290084
|
0.00022
|
|
NM_000383.4(AIRE):c.589G>A (p.Gly197Arg)
|
rs148012328
|
0.00022
|
|
NM_000392.5(ABCC2):c.1602G>T (p.Lys534Asn)
|
rs149593061
|
0.00022
|
|
NM_000393.5(COL5A2):c.2103C>T (p.Pro701=)
|
rs376612765
|
0.00022
|
|
NM_000400.4(ERCC2):c.1905G>A (p.Ala635=)
|
rs145835916
|
0.00022
|
|
NM_000428.3(LTBP2):c.5402G>A (p.Arg1801His)
|
rs143010135
|
0.00022
|
|
NM_000429.3(MAT1A):c.712G>A (p.Glu238Lys)
|
rs116528173
|
0.00022
|
|
NM_000458.4(HNF1B):c.1594A>G (p.Met532Val)
|
rs141193981
|
0.00022
|
|
NM_000466.3(PEX1):c.1725G>A (p.Leu575=)
|
rs150667796
|
0.00022
|
|
NM_000466.3(PEX1):c.2640T>C (p.Tyr880=)
|
rs201719745
|
0.00022
|
|
NM_000487.6(ARSA):c.982G>A (p.Val328Met)
|
rs143994992
|
0.00022
|
|
NM_000492.4(CFTR):c.221G>A (p.Arg74Gln)
|
rs142540482
|
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_000532.5(PCCB):c.544-5G>C
|
rs372351800
|
0.00022
|
|
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys)
|
rs139438201
|
0.00022
|
|
NM_000537.4(REN):c.961-5C>A
|
rs186717113
|
0.00022
|
|
NM_000540.3(RYR1):c.3555C>T (p.Asp1185=)
|
rs377282283
|
0.00022
|
|
NM_000540.3(RYR1):c.548C>T (p.Thr183Ile)
|
rs150038701
|
0.00022
|
|
NM_000540.3(RYR1):c.6639C>T (p.Asn2213=)
|
rs374630822
|
0.00022
|
|
NM_000548.5(TSC2):c.2712C>G (p.Phe904Leu)
|
rs137920189
|
0.00022
|
|
NM_000550.3(TYRP1):c.1138G>T (p.Ala380Ser)
|
rs184910238
|
0.00022
|
|
NM_000702.4(ATP1A2):c.1652-8C>T
|
rs370023134
|
0.00022
|
|
NM_000787.4(DBH):c.291C>T (p.Asn97=)
|
rs75734048
|
0.00022
|
|
NM_000875.5(IGF1R):c.1500G>A (p.Thr500=)
|
rs370500527
|
0.00022
|
|
NM_001005242.3(PKP2):c.302G>A (p.Arg101His)
|
rs149542398
|
0.00022
|
|
NM_001008537.3(NEXMIF):c.3775G>A (p.Ala1259Thr)
|
rs761368099
|
0.00022
|
|
NM_001039876.3(SYNE4):c.764T>C (p.Ile255Thr)
|
rs199853331
|
0.00022
|
|
NM_001042517.2(DIAPH3):c.3283A>G (p.Met1095Val)
|
rs199814282
|
0.00022
|
|
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met)
|
rs267608572
|
0.00022
|
|
NM_001113525.2(ZNF276):c.*1862C>T
|
rs776077648
|
0.00022
|
|
NM_001122630.2(CDKN1C):c.411G>A (p.Pro137=)
|
rs878853625
|
0.00022
|
|
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=)
|
rs374307014
|
0.00022
|
|
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys)
|
rs375354077
|
0.00022
|
|
NM_001128178.3(NPHP1):c.771+2C>T
|
rs189320299
|
0.00022
|
|
NM_001160372.4(TRAPPC9):c.3411C>A (p.Pro1137=)
|
rs373979305
|
0.00022
|
|
NM_001160372.4(TRAPPC9):c.370A>G (p.Ile124Val)
|
rs117688394
|
0.00022
|
|
NM_001164508.2(NEB):c.12718G>A (p.Ala4240Thr)
|
rs561736266
|
0.00022
|
|
NM_001164508.2(NEB):c.17845-5G>A
|
rs373390654
|
0.00022
|
|
NM_001164508.2(NEB):c.23278A>G (p.Asn7760Asp)
|
rs201189784
|
0.00022
|
|
NM_001164508.2(NEB):c.3443C>T (p.Ala1148Val)
|
rs200637566
|
0.00022
|
|
NM_001170629.2(CHD8):c.5483G>A (p.Arg1828His)
|
rs199908540
|
0.00022
|
|
NM_001206927.2(DNAH8):c.9277A>G (p.Ile3093Val)
|
rs139533720
|
0.00022
|
|
NM_001206999.2(CIT):c.4686T>C (p.Asp1562=)
|
rs548588963
|
0.00022
|
|
NM_001256715.2(DNAAF3):c.1049-1G>A
|
rs199590885
|
0.00022
|
|
NM_001267550.2(TTN):c.104519G>A (p.Arg34840Gln)
|
rs199710082
|
0.00022
|
|
NM_001267550.2(TTN):c.107230A>G (p.Ile35744Val)
|
rs142336788
|
0.00022
|
|
NM_001267550.2(TTN):c.107377+14C>T
|
rs367908657
|
0.00022
|
|
NM_001267550.2(TTN):c.19016A>G (p.Tyr6339Cys)
|
rs192553687
|
0.00022
|
|
NM_001267550.2(TTN):c.21721G>A (p.Val7241Ile)
|
rs367854582
|
0.00022
|
|
NM_001267550.2(TTN):c.27625A>G (p.Lys9209Glu)
|
rs148355969
|
0.00022
|
|
NM_001267550.2(TTN):c.28829G>A (p.Ser9610Asn)
|
rs371759532
|
0.00022
|
|
NM_001267550.2(TTN):c.87448A>T (p.Ile29150Leu)
|
rs189030321
|
0.00022
|
|
NM_001267550.2(TTN):c.96015C>T (p.Pro32005=)
|
rs183620684
|
0.00022
|
|
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg)
|
rs56061641
|
0.00022
|
|
NM_001277115.2(DNAH11):c.2102A>G (p.Asn701Ser)
|
rs369770445
|
0.00022
|
|
NM_001277115.2(DNAH11):c.9783G>C (p.Glu3261Asp)
|
rs201944089
|
0.00022
|
|
NM_001283009.2(RTEL1):c.3422C>T (p.Pro1141Leu)
|
rs201682415
|
0.00022
|
|
NM_001286445.3(RIPOR2):c.1130C>T (p.Pro377Leu)
|
rs201901775
|
0.00022
|
|
NM_001297.5(CNGB1):c.838-4G>T
|
rs375539469
|
0.00022
|
|
NM_001298.3(CNGA3):c.473C>T (p.Ala158Val)
|
rs138934573
|
0.00022
|
|
NM_001353108.3(CEP63):c.572G>A (p.Arg191Gln)
|
rs529386244
|
0.00022
|
|
NM_001354604.2(MITF):c.1412A>T (p.Tyr471Phe)
|
rs145325518
|
0.00022
|
|
NM_001355436.2(SPTB):c.1027G>A (p.Ala343Thr)
|
rs149837193
|
0.00022
|
|
NM_001358263.1(HK1):c.-196+1241G>A
|
rs545102911
|
0.00022
|
|
NM_001367624.2(ZNF469):c.1020C>T (p.Gly340=)
|
rs273585633
|
0.00022
|
|
NM_001367624.2(ZNF469):c.1522G>A (p.Ala508Thr)
|
rs750005577
|
0.00022
|
|
NM_001367624.2(ZNF469):c.760G>A (p.Glu254Lys)
|
rs755977911
|
0.00022
|
|
NM_001367721.1(CASK):c.356+6T>C
|
rs200402760
|
0.00022
|
|
NM_001370466.1(NOD2):c.1235G>A (p.Arg412His)
|
rs143110172
|
0.00022
|
|
NM_001371333.1(DIABLO):c.-11C>T
|
rs376530914
|
0.00022
|
|
NM_001374828.1(ARID1B):c.2205A>T (p.Glu735Asp)
|
rs139125255
|
0.00022
|
|
NM_001377.3(DYNC2H1):c.10043-7T>A
|
rs376067770
|
0.00022
|
|
NM_001378120.1(MBD5):c.276A>G (p.Ala92=)
|
rs141855494
|
0.00022
|
|
NM_001378414.1(HDAC4):c.2151G>A (p.Gln717=)
|
rs138137158
|
0.00022
|
|
NM_001378454.1(ALMS1):c.1451G>A (p.Gly484Asp)
|
rs374663067
|
0.00022
|
|
NM_001378454.1(ALMS1):c.2536G>A (p.Gly846Arg)
|
rs201154998
|
0.00022
|
|
NM_001378454.1(ALMS1):c.3689G>A (p.Gly1230Glu)
|
rs372619046
|
0.00022
|
|
NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro)
|
rs201517720
|
0.00022
|
|
NM_001378454.1(ALMS1):c.4543G>A (p.Ala1515Thr)
|
rs183839621
|
0.00022
|
|
NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=)
|
rs771914973
|
0.00022
|
|
NM_001379110.1(SLC9A6):c.1083G>A (p.Leu361=)
|
rs151178361
|
0.00022
|
|
NM_001379180.1(ESRRB):c.952G>A (p.Asp318Asn)
|
rs201344770
|
0.00022
|
|
NM_001379451.1(BCORL1):c.2669G>A (p.Arg890Gln)
|
rs201843717
|
0.00022
|
|
NM_001457.4(FLNB):c.1534G>A (p.Ala512Thr)
|
rs201544295
|
0.00022
|
|
NM_001457.4(FLNB):c.1588G>T (p.Gly530Trp)
|
rs773943113
|
0.00022
|
|
NM_001457.4(FLNB):c.3052G>A (p.Val1018Met)
|
rs2276742
|
0.00022
|
|
NM_001493.3(GDI1):c.1167C>T (p.Pro389=)
|
rs140855833
|
0.00022
|
|
NM_001498.4(GCLC):c.1091A>G (p.Asp364Gly)
|
rs151321990
|
0.00022
|
|
NM_001999.4(FBN2):c.5917+9T>G
|
rs371439173
|
0.00022
|
|
NM_002047.4(GARS1):c.302G>A (p.Arg101His)
|
rs200887429
|
0.00022
|
|
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln)
|
rs63751100
|
0.00022
|
|
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu)
|
rs151178348
|
0.00022
|
|
NM_002291.3(LAMB1):c.2152G>A (p.Val718Met)
|
rs142742847
|
0.00022
|
|
NM_002335.4(LRP5):c.639C>T (p.Asp213=)
|
rs150859573
|
0.00022
|
|
NM_002435.3(MPI):c.573C>T (p.Ala191=)
|
rs200903491
|
0.00022
|
|
NM_002439.5(MSH3):c.2438A>G (p.Lys813Arg)
|
rs150446804
|
0.00022
|
|
NM_002471.4(MYH6):c.2614C>T (p.Arg872Cys)
|
rs201193346
|
0.00022
|
|
NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln)
|
rs199936506
|
0.00022
|
|
NM_002471.4(MYH6):c.5201C>T (p.Ser1734Leu)
|
rs151324358
|
0.00022
|
|
NM_002546.4(TNFRSF11B):c.96C>T (p.Asp32=)
|
rs4876870
|
0.00022
|
|
NM_002617.4(PEX10):c.611G>A (p.Arg204His)
|
rs199934621
|
0.00022
|
|
NM_002618.4(PEX13):c.142C>T (p.Leu48Phe)
|
rs60203778
|
0.00022
|
|
NM_002692.4(POLE2):c.929-3T>C
|
rs372605618
|
0.00022
|
|
NM_002887.4(RARS1):c.1465G>A (p.Glu489Lys)
|
rs11557638
|
0.00022
|
|
NM_002972.4(SBF1):c.2464G>A (p.Val822Ile)
|
rs201061231
|
0.00022
|
|
NM_003098.3(SNTA1):c.128G>A (p.Ser43Asn)
|
rs786205841
|
0.00022
|
|
NM_003119.4(SPG7):c.220G>A (p.Gly74Arg)
|
rs114854791
|
0.00022
|
|
NM_004006.3(DMD):c.3951G>A (p.Glu1317=)
|
rs199643655
|
0.00022
|
|
NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser)
|
rs758633794
|
0.00022
|
|
NM_004006.3(DMD):c.9287-8C>T
|
rs371035624
|
0.00022
|
|
NM_004086.3(COCH):c.22G>A (p.Ala8Thr)
|
rs200935305
|
0.00022
|
|
NM_004132.5(HABP2):c.753G>A (p.Ala251=)
|
rs146758495
|
0.00022
|
|
NM_004168.4(SDHA):c.-2A>T
|
rs763680697
|
0.00022
|
|
NM_004252.5(NHERF1):c.888+2T>C
|
rs138547261
|
0.00022
|
|
NM_004304.5(ALK):c.3291C>T (p.Cys1097=)
|
rs370170353
|
0.00022
|
|
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala)
|
rs116093741
|
0.00022
|
|
NM_004360.5(CDH1):c.2589C>T (p.Asn863=)
|
rs115817750
|
0.00022
|
|
NM_004360.5(CDH1):c.33G>C (p.Leu11=)
|
rs730881654
|
0.00022
|
|
NM_004369.4(COL6A3):c.3954C>T (p.Tyr1318=)
|
rs375909800
|
0.00022
|
|
NM_004369.4(COL6A3):c.4503C>T (p.Asp1501=)
|
rs115551245
|
0.00022
|
|
NM_004385.5(VCAN):c.9758A>G (p.Asn3253Ser)
|
rs141195210
|
0.00022
|
|
NM_004408.4(DNM1):c.2420C>G (p.Ser807Cys)
|
rs935756107
|
0.00022
|
|
NM_004612.4(TGFBR1):c.415A>G (p.Ile139Val)
|
rs148176750
|
0.00022
|
|
NM_004820.5(CYP7B1):c.522T>C (p.Ser174=)
|
rs371522442
|
0.00022
|
|
NM_004960.4(FUS):c.1080C>T (p.Ser360=)
|
rs190724342
|
0.00022
|
|
NM_004960.4(FUS):c.646C>T (p.Arg216Cys)
|
rs267606832
|
0.00022
|
|
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn)
|
rs139901585
|
0.00022
|
|
NM_005198.5(CHKB):c.263C>T (p.Pro88Leu)
|
rs146163970
|
0.00022
|
|
NM_005228.5(EGFR):c.844G>A (p.Glu282Lys)
|
rs199796955
|
0.00022
|
|
NM_005422.4(TECTA):c.2827C>A (p.Leu943Met)
|
rs139158022
|
0.00022
|
|
NM_005609.4(PYGM):c.2177+7G>A
|
rs201366697
|
0.00022
|
|
NM_006005.3(WFS1):c.1792G>A (p.Ala598Thr)
|
rs140125843
|
0.00022
|
|
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys)
|
rs201064551
|
0.00022
|
|
NM_006015.6(ARID1A):c.5491C>G (p.Leu1831Val)
|
rs150534917
|
0.00022
|
|
NM_006017.3(PROM1):c.2271C>T (p.Ile757=)
|
rs375986111
|
0.00022
|
|
NM_006019.4(TCIRG1):c.2445C>T (p.Gly815=)
|
rs150788130
|
0.00022
|
|
NM_006231.4(POLE):c.1184G>A (p.Gly395Glu)
|
rs546499094
|
0.00022
|
|
NM_006514.4(SCN10A):c.1163T>C (p.Leu388Pro)
|
rs199734710
|
0.00022
|
|
NM_006514.4(SCN10A):c.1370A>G (p.Glu457Gly)
|
rs766017851
|
0.00022
|
|
NM_006516.4(SLC2A1):c.805C>T (p.Arg269Cys)
|
rs200247956
|
0.00022
|
|
NM_006950.3(SYN1):c.1569G>A (p.Ala523=)
|
rs587781185
|
0.00022
|
|
NM_007078.3(LDB3):c.1049C>T (p.Thr350Ile)
|
rs200796750
|
0.00022
|
|
NM_007294.4(BRCA1):c.4813T>C (p.Leu1605=)
|
rs80356833
|
0.00022
|
|
NM_013275.6(ANKRD11):c.116C>T (p.Thr39Ile)
|
rs149152296
|
0.00022
|
|
NM_014000.3(VCL):c.787A>T (p.Thr263Ser)
|
rs142233726
|
0.00022
|
|
NM_014014.5(SNRNP200):c.46-7T>C
|
rs373701482
|
0.00022
|
|
NM_014140.4(SMARCAL1):c.1001G>A (p.Arg334Gln)
|
rs138575228
|
0.00022
|
|
NM_014159.7(SETD2):c.2096A>G (p.Asp699Gly)
|
rs368132877
|
0.00022
|
|
NM_014244.5(ADAMTS2):c.2109C>T (p.Ile703=)
|
rs200210415
|
0.00022
|
|
NM_014363.6(SACS):c.1519A>G (p.Thr507Ala)
|
rs372022664
|
0.00022
|
|
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr)
|
rs147949881
|
0.00022
|
|
NM_014425.5(INVS):c.114T>C (p.Ser38=)
|
rs114056499
|
0.00022
|
|
NM_014467.3(SRPX2):c.693C>A (p.His231Gln)
|
rs142719253
|
0.00022
|
|
NM_014780.5(CUL7):c.981C>T (p.Pro327=)
|
rs144880219
|
0.00022
|
|
NM_015311.3(OBSL1):c.1283-9G>A
|
rs376967214
|
0.00022
|
|
NM_015340.4(LARS2):c.1947C>A (p.Asp649Glu)
|
rs143155251
|
0.00022
|
|
NM_015450.3(POT1):c.1228G>C (p.Asp410His)
|
rs79314063
|
0.00022
|
|
NM_015681.6(B9D1):c.376T>A (p.Ser126Thr)
|
rs201299216
|
0.00022
|
|
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His)
|
rs148348866
|
0.00022
|
|
NM_016343.4(CENPF):c.7721C>T (p.Ser2574Phe)
|
rs201477597
|
0.00022
|
|
NM_016356.5(DCDC2):c.222C>A (p.Ile74=)
|
rs138670560
|
0.00022
|
|
NM_017636.4(TRPM4):c.1119C>A (p.Phe373Leu)
|
rs141531245
|
0.00022
|
|
NM_017775.4(TTC19):c.313-4T>C
|
rs374666326
|
0.00022
|
|
NM_017780.4(CHD7):c.5848G>A (p.Ala1950Thr)
|
rs201423234
|
0.00022
|
|
NM_018699.4(PRDM5):c.236C>G (p.Ser79Cys)
|
rs201325904
|
0.00022
|
|
NM_018979.4(WNK1):c.865T>C (p.Ser289Pro)
|
rs200234585
|
0.00022
|
|
NM_020247.5(COQ8A):c.1900G>A (p.Glu634Lys)
|
rs149335528
|
0.00022
|
|
NM_020533.3(MCOLN1):c.1359+13C>T
|
rs143068910
|
0.00022
|
|
NM_020754.4(ARHGAP31):c.2323G>A (p.Gly775Ser)
|
rs147415811
|
0.00022
|
|
NM_021098.3(CACNA1H):c.2039G>A (p.Ser680Asn)
|
rs371925462
|
0.00022
|
|
NM_021098.3(CACNA1H):c.6721G>A (p.Gly2241Arg)
|
rs200606995
|
0.00022
|
|
NM_021971.4(GMPPB):c.1048G>A (p.Gly350Ser)
|
rs184127567
|
0.00022
|
|
NM_022095.4(ZNF335):c.808C>T (p.Arg270Cys)
|
rs145110365
|
0.00022
|
|
NM_022124.6(CDH23):c.8407G>A (p.Val2803Ile)
|
rs369697366
|
0.00022
|
|
NM_022356.4(P3H1):c.1428C>T (p.Gly476=)
|
rs141786883
|
0.00022
|
|
NM_022437.3(ABCG8):c.322+6G>A
|
rs181319879
|
0.00022
|
|
NM_022489.4(INF2):c.3563C>T (p.Ser1188Phe)
|
rs201715539
|
0.00022
|
|
NM_022835.3(PLEKHG2):c.3007G>A (p.Ala1003Thr)
|
rs372208970
|
0.00022
|
|
NM_023036.6(DNAI2):c.1599C>T (p.Thr533=)
|
rs139915367
|
0.00022
|
|
NM_024301.5(FKRP):c.885C>T (p.Arg295=)
|
rs769005880
|
0.00022
|
|
NM_024312.5(GNPTAB):c.70T>G (p.Phe24Val)
|
rs141329633
|
0.00022
|
|
NM_024408.4(NOTCH2):c.5161G>A (p.Ala1721Thr)
|
rs115013051
|
0.00022
|
|
NM_024422.6(DSC2):c.854T>C (p.Ile285Thr)
|
rs199918720
|
0.00022
|
|
NM_024426.6(WT1):c.760C>T (p.Pro254Ser)
|
rs2234584
|
0.00022
|
|
NM_024753.5(TTC21B):c.1272C>A (p.Asp424Glu)
|
rs533077805
|
0.00022
|
|
NM_024757.5(EHMT1):c.3198C>T (p.Asp1066=)
|
rs367688971
|
0.00022
|
|
NM_024757.5(EHMT1):c.32C>T (p.Ala11Val)
|
rs200636818
|
0.00022
|
|
NM_024757.5(EHMT1):c.905A>G (p.Lys302Arg)
|
rs565065320
|
0.00022
|
|
NM_024824.5(ZC3H14):c.1260T>G (p.Asp420Glu)
|
rs201108116
|
0.00022
|
|
NM_025000.4(DCAF17):c.533G>A (p.Arg178Gln)
|
rs202231211
|
0.00022
|
|
NM_025099.6(CTC1):c.3498G>A (p.Ser1166=)
|
rs369209127
|
0.00022
|
|
NM_025099.6(CTC1):c.3515-10C>T
|
rs200225342
|
0.00022
|
|
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)
|
rs77778467
|
0.00022
|
|
NM_025137.4(SPG11):c.6010T>G (p.Leu2004Val)
|
rs200220848
|
0.00022
|
|
NM_030773.4(TUBB1):c.578T>C (p.Ile193Thr)
|
rs141698221
|
0.00022
|
|
NM_031220.4(PITPNM3):c.1124C>T (p.Pro375Leu)
|
rs138671220
|
0.00022
|
|
NM_032040.5(CCDC8):c.43C>T (p.Arg15Trp)
|
rs200189331
|
0.00022
|
|
NM_032119.4(ADGRV1):c.12982G>A (p.Glu4328Lys)
|
rs182452385
|
0.00022
|
|
NM_032119.4(ADGRV1):c.6443C>T (p.Ala2148Val)
|
rs375921325
|
0.00022
|
|
NM_032520.5(GNPTG):c.67G>C (p.Gly23Arg)
|
rs547624231
|
0.00022
|
|
NM_033409.4(SLC52A3):c.395G>A (p.Arg132Gln)
|
rs142157418
|
0.00022
|
|
NM_033641.4(COL4A6):c.3455T>C (p.Ile1152Thr)
|
rs201355021
|
0.00022
|
|
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val)
|
rs147187907
|
0.00022
|
|
NM_053025.4(MYLK):c.842A>G (p.Lys281Arg)
|
rs147770839
|
0.00022
|
|
NM_054027.6(ANKH):c.1042G>A (p.Val348Met)
|
rs148228793
|
0.00022
|
|
NM_130837.3(OPA1):c.653C>T (p.Ser218Phe)
|
rs200243596
|
0.00022
|
|
NM_133379.5(TTN):c.12550G>T (p.Gly4184Cys)
|
rs145460295
|
0.00022
|
|
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr)
|
rs147351244
|
0.00022
|
|
NM_139058.3(ARX):c.336A>G (p.Ala112=)
|
rs794727308
|
0.00022
|
|
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala)
|
rs142971568
|
0.00022
|
|
NM_152618.3(BBS12):c.1499T>C (p.Val500Ala)
|
rs145392789
|
0.00022
|
|
NM_153676.4(USH1C):c.2039C>A (p.Pro680Gln)
|
rs187147906
|
0.00022
|
|
NM_170682.4(P2RX2):c.381+2T>C
|
rs200978001
|
0.00022
|
|
NM_177402.5(SYT2):c.919+5G>A
|
rs752537599
|
0.00022
|
|
NM_178452.6(DNAAF1):c.1083C>T (p.Gly361=)
|
rs200487337
|
0.00022
|
|
NM_182961.4(SYNE1):c.13554C>T (p.Arg4518=)
|
rs115535983
|
0.00022
|
|
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln)
|
rs182849552
|
0.00022
|
|
NM_198525.3(KIF7):c.3784C>T (p.Arg1262Trp)
|
rs142598777
|
0.00022
|
|
NM_198578.4(LRRK2):c.1324C>T (p.His442Tyr)
|
rs568593066
|
0.00022
|
|
NM_201384.3(PLEC):c.2163C>T (p.Asn721=)
|
rs374712759
|
0.00022
|
|
NM_201384.3(PLEC):c.2268C>T (p.Thr756=)
|
rs371267446
|
0.00022
|
|
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val)
|
rs200367454
|
0.00022
|
|
NM_206933.4(USH2A):c.10564A>G (p.Arg3522Gly)
|
rs147374057
|
0.00022
|
|
NM_000037.4(ANK1):c.669G>A (p.Gln223=)
|
rs375060699
|
0.00021
|
|
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp)
|
rs140493115
|
0.00021
|
|
NM_000038.6(APC):c.564A>G (p.Gln188=)
|
rs377493489
|
0.00021
|
|
NM_000038.6(APC):c.6782C>T (p.Pro2261Leu)
|
rs376494248
|
0.00021
|
|
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly)
|
rs780049836
|
0.00021
|
|
NM_000051.4(ATM):c.4871A>G (p.His1624Arg)
|
rs56354559
|
0.00021
|
|
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)
|
rs80358755
|
0.00021
|
|
NM_000069.3(CACNA1S):c.5510A>C (p.Glu1837Ala)
|
rs200765341
|
0.00021
|
|
NM_000070.3(CAPN3):c.1818G>A (p.Ser606=)
|
rs28364528
|
0.00021
|
|
NM_000079.4(CHRNA1):c.319C>T (p.Arg107Cys)
|
rs140268343
|
0.00021
|
|
NM_000081.4(LYST):c.3898A>G (p.Ile1300Val)
|
rs199855658
|
0.00021
|
|
NM_000081.4(LYST):c.4006+8G>A
|
rs369153654
|
0.00021
|
|
NM_000081.4(LYST):c.9045-13T>C
|
rs181450025
|
0.00021
|
|
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val)
|
rs76636743
|
0.00021
|
|
NM_000092.5(COL4A4):c.865C>T (p.Arg289Cys)
|
rs371904688
|
0.00021
|
|
NM_000094.4(COL7A1):c.1241-4G>A
|
rs201605314
|
0.00021
|
|
NM_000094.4(COL7A1):c.923T>C (p.Ile308Thr)
|
rs145738101
|
0.00021
|
|
NM_000096.4(CP):c.1104G>C (p.Gly368=)
|
rs142503847
|
0.00021
|
|
NM_000130.5(F5):c.2864G>T (p.Ser955Ile)
|
rs199507543
|
0.00021
|
|
NM_000135.4(FANCA):c.3723C>T (p.Asn1241=)
|
rs202107465
|
0.00021
|
|
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=)
|
rs142784426
|
0.00021
|
|
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg)
|
rs146726731
|
0.00021
|
|
NM_000143.4(FH):c.1303G>A (p.Val435Met)
|
rs147528200
|
0.00021
|
|
NM_000144.5(FXN):c.179G>A (p.Arg60His)
|
rs141858334
|
0.00021
|
|
NM_000151.4(G6PC1):c.909C>T (p.Leu303=)
|
rs368282218
|
0.00021
|
|
NM_000152.5(GAA):c.2152G>A (p.Val718Ile)
|
rs141017311
|
0.00021
|
|
NM_000152.5(GAA):c.2245G>T (p.Ala749Ser)
|
rs148311222
|
0.00021
|
|
NM_000152.5(GAA):c.2323C>A (p.Leu775Met)
|
rs147290429
|
0.00021
|
|
NM_000168.6(GLI3):c.1028+3A>T
|
rs368499795
|
0.00021
|
|
NM_000179.3(MSH6):c.*49_*68dup
|
rs777409019
|
0.00021
|
|
NM_000182.5(HADHA):c.2175C>T (p.Gly725=)
|
rs375399631
|
0.00021
|
|
NM_000186.4(CFH):c.1949G>T (p.Gly650Val)
|
rs143237092
|
0.00021
|
|
NM_000208.4(INSR):c.2665C>T (p.Arg889Trp)
|
rs76077021
|
0.00021
|
|
NM_000230.3(LEP):c.53A>G (p.Tyr18Cys)
|
rs148407750
|
0.00021
|
|
NM_000243.3(MEFV):c.1795A>G (p.Asn599Asp)
|
rs104895210
|
0.00021
|
|
NM_000246.4(CIITA):c.2892G>A (p.Leu964=)
|
rs200599265
|
0.00021
|
|
NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr)
|
rs397515985
|
0.00021
|
|
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn)
|
rs371140684
|
0.00021
|
|
NM_000257.4(MYH7):c.77C>T (p.Ala26Val)
|
rs186964570
|
0.00021
|
|
NM_000260.4(MYO7A):c.5005G>A (p.Val1669Ile)
|
rs374655803
|
0.00021
|
|
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr)
|
rs41298759
|
0.00021
|
|
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=)
|
rs115401566
|
0.00021
|
|
NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser)
|
rs574880967
|
0.00021
|
|
NM_000330.4(RS1):c.264G>C (p.Gln88His)
|
rs201680258
|
0.00021
|
|
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser)
|
rs200517944
|
0.00021
|
|
NM_000335.5(SCN5A):c.3296C>T (p.Ala1099Val)
|
rs199473192
|
0.00021
|
|
NM_000335.5(SCN5A):c.4591G>A (p.Val1531Ile)
|
rs199473618
|
0.00021
|
|
NM_000345.4(SNCA):c.216G>A (p.Thr72=)
|
rs144758871
|
0.00021
|
|
NM_000350.3(ABCA4):c.3568G>A (p.Ala1190Thr)
|
rs368692594
|
0.00021
|
|
NM_000350.3(ABCA4):c.4578G>A (p.Thr1526=)
|
rs138831474
|
0.00021
|
|
NM_000355.4(TCN2):c.522C>T (p.Ser174=)
|
rs537115632
|
0.00021
|
|
NM_000384.3(APOB):c.10476T>A (p.Ile3492=)
|
rs139929439
|
0.00021
|
|
NM_000384.3(APOB):c.10708C>T (p.His3570Tyr)
|
rs201736972
|
0.00021
|
|
NM_000392.5(ABCC2):c.4348G>T (p.Ala1450Ser)
|
rs56296335
|
0.00021
|
|
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met)
|
rs150326995
|
0.00021
|
|
NM_000426.4(LAMA2):c.8905C>T (p.Arg2969Cys)
|
rs374888837
|
0.00021
|
|
NM_000428.3(LTBP2):c.2657C>A (p.Thr886Lys)
|
rs201591982
|
0.00021
|
|
NM_000441.2(SLC26A4):c.1544+9C>T
|
rs368970459
|
0.00021
|
|
NM_000448.3(RAG1):c.1064T>C (p.Met355Thr)
|
rs151077440
|
0.00021
|
|
NM_000458.4(HNF1B):c.750C>T (p.Tyr250=)
|
rs144249535
|
0.00021
|
|
NM_000465.4(BARD1):c.1347A>G (p.Gln449=)
|
rs373257776
|
0.00021
|
|
NM_000465.4(BARD1):c.842C>T (p.Pro281Leu)
|
rs367890377
|
0.00021
|
|
NM_000466.3(PEX1):c.2045C>T (p.Ala682Val)
|
rs145350631
|
0.00021
|
|
NM_000501.4(ELN):c.1373C>A (p.Ala458Glu)
|
rs149117932
|
0.00021
|
|
NM_000506.5(F2):c.495G>A (p.Thr165=)
|
rs144857547
|
0.00021
|
|
NM_000512.5(GALNS):c.771C>T (p.Ala257=)
|
rs370586494
|
0.00021
|
|
NM_000519.4(HBD):c.316-5C>T
|
rs35769679
|
0.00021
|
|
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)
|
rs63751132
|
0.00021
|
|
NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=)
|
rs147021347
|
0.00021
|
|
NM_000709.4(BCKDHA):c.125A>G (p.Gln42Arg)
|
rs150177278
|
0.00021
|
|
NM_000719.7(CACNA1C):c.3946-12G>A
|
rs41276706
|
0.00021
|
|
NM_000726.5(CACNB4):c.8C>T (p.Ser3Phe)
|
rs542973906
|
0.00021
|
|
NM_000744.7(CHRNA4):c.1635G>A (p.Thr545=)
|
rs121912283
|
0.00021
|
|
NM_000784.4(CYP27A1):c.609G>A (p.Ser203=)
|
rs148132118
|
0.00021
|
|
NM_000878.5(IL2RB):c.1001C>T (p.Thr334Met)
|
rs146173891
|
0.00021
|
|
NM_001010892.3(RSPH4A):c.930C>T (p.Asn310=)
|
rs180881714
|
0.00021
|
|
NM_001018005.2(TPM1):c.797A>G (p.Lys266Arg)
|
rs371934474
|
0.00021
|
|
NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=)
|
rs144654282
|
0.00021
|
|
NM_001035.3(RYR2):c.13137C>A (p.Ile4379=)
|
rs369917806
|
0.00021
|
|
NM_001035.3(RYR2):c.2389G>A (p.Gly797Arg)
|
rs200121281
|
0.00021
|
|
NM_001035.3(RYR2):c.577-14G>A
|
rs148019277
|
0.00021
|
|
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr)
|
rs150721582
|
0.00021
|
|
NM_001039141.3(TRIOBP):c.6007G>A (p.Gly2003Ser)
|
rs397516554
|
0.00021
|
|
NM_001039141.3(TRIOBP):c.6360C>T (p.Ser2120=)
|
rs375936342
|
0.00021
|
|
NM_001039876.3(SYNE4):c.1127C>T (p.Ala376Val)
|
rs199938988
|
0.00021
|
|
NM_001039876.3(SYNE4):c.962G>A (p.Arg321Gln)
|
rs150043310
|
0.00021
|
|
NM_001040716.2(PC):c.1446C>T (p.Asp482=)
|
rs145891535
|
0.00021
|
|
NM_001042492.3(NF1):c.1062+113A>G
|
rs868553650
|
0.00021
|
|
NM_001042492.3(NF1):c.5269-9A>G
|
rs544515671
|
0.00021
|
|
NM_001042545.2(LTBP4):c.3610G>A (p.Val1204Met)
|
rs200036888
|
0.00021
|
|
NM_001083961.2(WDR62):c.820T>G (p.Tyr274Asp)
|
rs746156911
|
0.00021
|
|
NM_001103.4(ACTN2):c.1106C>T (p.Ser369Leu)
|
rs747400815
|
0.00021
|
|
NM_001130987.2(DYSF):c.3267C>T (p.Tyr1089=)
|
rs150355624
|
0.00021
|
|
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser)
|
rs139529811
|
0.00021
|
|
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val)
|
rs150834671
|
0.00021
|
|
NM_001130987.2(DYSF):c.628G>A (p.Gly210Arg)
|
rs143562525
|
0.00021
|
|
NM_001134407.3(GRIN2A):c.736C>A (p.Leu246Ile)
|
rs555768104
|
0.00021
|
|
NM_001142800.2(EYS):c.6876T>C (p.Asn2292=)
|
rs774188028
|
0.00021
|
|
NM_001161352.2(KCNMA1):c.1287G>T (p.Leu429=)
|
rs147378590
|
0.00021
|
|
NM_001161352.2(KCNMA1):c.2398G>T (p.Asp800Tyr)
|
rs142210216
|
0.00021
|
|
NM_001164508.2(NEB):c.21664T>A (p.Ser7222Thr)
|
rs191722579
|
0.00021
|
|
NM_001184.4(ATR):c.2688G>A (p.Leu896=)
|
rs117926957
|
0.00021
|
|
NM_001184.4(ATR):c.483A>G (p.Arg161=)
|
rs182268224
|
0.00021
|
|
NM_001194998.2(CEP152):c.2920C>A (p.Gln974Lys)
|
rs370745843
|
0.00021
|
|
NM_001199267.2(DGKZ):c.2279G>A (p.Arg760Gln)
|
rs78818764
|
0.00021
|
|
NM_001242896.3(DEPDC5):c.2672G>C (p.Ser891Thr)
|
rs185576553
|
0.00021
|
|
NM_001244008.2(KIF1A):c.5155G>A (p.Val1719Met)
|
rs200511467
|
0.00021
|
|
NM_001244926.2(PRPF4):c.1504G>A (p.Asp502Asn)
|
rs141207203
|
0.00021
|
|
NM_001267550.2(TTN):c.17116G>A (p.Glu5706Lys)
|
rs376593556
|
0.00021
|
|
NM_001267550.2(TTN):c.28644G>A (p.Thr9548=)
|
rs376744914
|
0.00021
|
|
NM_001267550.2(TTN):c.31645A>G (p.Ile10549Val)
|
rs376613199
|
0.00021
|
|
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys)
|
rs201035457
|
0.00021
|
|
NM_001267550.2(TTN):c.50850C>A (p.Asp16950Glu)
|
rs200700386
|
0.00021
|
|
NM_001267550.2(TTN):c.5464A>C (p.Met1822Leu)
|
rs201581947
|
0.00021
|
|
NM_001267550.2(TTN):c.55306G>A (p.Glu18436Lys)
|
rs201510986
|
0.00021
|
|
NM_001267550.2(TTN):c.62280T>C (p.Val20760=)
|
rs372065796
|
0.00021
|
|
NM_001267550.2(TTN):c.62424C>T (p.Asp20808=)
|
rs374472044
|
0.00021
|
|
NM_001267550.2(TTN):c.62567A>G (p.Tyr20856Cys)
|
rs373867080
|
0.00021
|
|
NM_001267550.2(TTN):c.69140T>C (p.Val23047Ala)
|
rs368697152
|
0.00021
|
|
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys)
|
rs145039979
|
0.00021
|
|
NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp)
|
rs540161344
|
0.00021
|
|
NM_001267550.2(TTN):c.88984G>A (p.Gly29662Ser)
|
rs187460377
|
0.00021
|
|
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr)
|
rs200766837
|
0.00021
|
|
NM_001267550.2(TTN):c.98826C>G (p.Asp32942Glu)
|
rs190967471
|
0.00021
|
|
NM_001276345.2(TNNT2):c.200-11A>G
|
rs368658464
|
0.00021
|
|
NM_001277115.2(DNAH11):c.2419G>C (p.Asp807His)
|
rs369849556
|
0.00021
|
|
NM_001277115.2(DNAH11):c.2499C>T (p.Asn833=)
|
rs201231307
|
0.00021
|
|
NM_001277115.2(DNAH11):c.9925-7T>C
|
rs146815254
|
0.00021
|
|
NM_001278116.2(L1CAM):c.963C>T (p.Ala321=)
|
rs145823218
|
0.00021
|
|
NM_001278716.2(FBXL4):c.541A>G (p.Thr181Ala)
|
rs150748757
|
0.00021
|
|
NM_001282531.3(ADNP):c.1063G>A (p.Ala355Thr)
|
rs200625964
|
0.00021
|
|
NM_001282531.3(ADNP):c.2561C>T (p.Ser854Phe)
|
rs376827094
|
0.00021
|
|
NM_001291303.3(FAT4):c.829G>A (p.Ala277Thr)
|
rs183191959
|
0.00021
|
|
NM_001330078.2(NRXN1):c.1700T>G (p.Leu567Trp)
|
rs372311299
|
0.00021
|
|
NM_001348800.3(ZBTB20):c.188G>A (p.Gly63Glu)
|
rs182068139
|
0.00021
|
|
NM_001365276.2(TNXB):c.2366G>A (p.Gly789Glu)
|
rs367834992
|
0.00021
|
|
NM_001367624.2(ZNF469):c.5162G>T (p.Cys1721Phe)
|
rs568197988
|
0.00021
|
|
NM_001367624.2(ZNF469):c.9850G>A (p.Gly3284Arg)
|
rs773064083
|
0.00021
|
|
NM_001367805.3(KIF23):c.690A>G (p.Ile230Met)
|
rs199679829
|
0.00021
|
|
NM_001369.3(DNAH5):c.3760C>T (p.Arg1254Trp)
|
rs749162833
|
0.00021
|
|
NM_001369.3(DNAH5):c.39C>T (p.Ser13=)
|
rs370788337
|
0.00021
|
|
NM_001370298.3(FGD4):c.1923-7A>G
|
rs200542541
|
0.00021
|
|
NM_001370466.1(NOD2):c.1036C>T (p.Arg346Cys)
|
rs145293873
|
0.00021
|
|
NM_001375808.2(LPIN2):c.2445T>C (p.Asp815=)
|
rs140249737
|
0.00021
|
|
NM_001378120.1(MBD5):c.2010C>G (p.Leu670=)
|
rs371014306
|
0.00021
|
|
NM_001378454.1(ALMS1):c.759T>A (p.Pro253=)
|
rs201478438
|
0.00021
|
|
NM_001378457.1(DMXL2):c.6497G>A (p.Gly2166Glu)
|
rs149842282
|
0.00021
|
|
NM_001379500.1(COL18A1):c.1452G>T (p.Arg484=)
|
rs373106775
|
0.00021
|
|
NM_001382.4(DPAGT1):c.250A>C (p.Lys84Gln)
|
rs112355069
|
0.00021
|
|
NM_001384474.1(LOXHD1):c.1887C>T (p.Ser629=)
|
rs189550119
|
0.00021
|
|
NM_001384474.1(LOXHD1):c.1944C>T (p.Ser648=)
|
rs369039902
|
0.00021
|
|
NM_001384732.1(CPLANE1):c.3131G>A (p.Arg1044His)
|
rs779754977
|
0.00021
|
|
NM_001458.5(FLNC):c.2635C>T (p.Arg879Cys)
|
rs374983276
|
0.00021
|
|
NM_001458.5(FLNC):c.7499G>A (p.Ser2500Asn)
|
rs371244800
|
0.00021
|
|
NM_001492.6(GDF1):c.485G>A (p.Gly162Asp)
|
rs121434424
|
0.00021
|
|
NM_001701.4(BAAT):c.1173C>T (p.His391=)
|
rs113673597
|
0.00021
|
|
NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr)
|
rs138269346
|
0.00021
|
|
NM_001853.4(COL9A3):c.1708T>C (p.Ser570Pro)
|
rs199886210
|
0.00021
|
|
NM_001854.4(COL11A1):c.2421A>T (p.Arg807Ser)
|
rs367824632
|
0.00021
|
|
NM_001875.5(CPS1):c.234A>G (p.Gly78=)
|
rs182678639
|
0.00021
|
|
NM_001875.5(CPS1):c.5C>T (p.Thr2Met)
|
rs150314086
|
0.00021
|
|
NM_001927.4(DES):c.736-8C>A
|
rs140375681
|
0.00021
|
|
NM_001953.5(TYMP):c.1176C>T (p.Val392=)
|
rs770533125
|
0.00021
|
|
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile)
|
rs138834515
|
0.00021
|
|
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val)
|
rs201962592
|
0.00021
|
|
NM_002047.4(GARS1):c.408A>G (p.Gln136=)
|
rs200279483
|
0.00021
|
|
NM_002185.5(IL7R):c.1165G>C (p.Asp389His)
|
rs143596606
|
0.00021
|
|
NM_002230.4(JUP):c.1507G>A (p.Gly503Ser)
|
rs376051686
|
0.00021
|
|
NM_002335.4(LRP5):c.2091+5C>T
|
rs202064462
|
0.00021
|
|
NM_002386.4(MC1R):c.332C>T (p.Ala111Val)
|
rs201489928
|
0.00021
|
|
NM_002437.5(MPV17):c.31C>T (p.Leu11=)
|
rs540291444
|
0.00021
|
|
NM_002470.4(MYH3):c.4324G>A (p.Ala1442Thr)
|
rs201602783
|
0.00021
|
|
NM_002474.3(MYH11):c.1078G>A (p.Val360Ile)
|
rs111677442
|
0.00021
|
|
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln)
|
rs147447269
|
0.00021
|
|
NM_002485.5(NBN):c.786C>A (p.Phe262Leu)
|
rs372159380
|
0.00021
|
|
NM_002529.4(NTRK1):c.630C>T (p.Asp210=)
|
rs147882947
|
0.00021
|
|
NM_002578.5(PAK3):c.1579A>G (p.Ser527Gly)
|
rs200474454
|
0.00021
|
|
NM_002617.4(PEX10):c.776+8C>T
|
rs370594705
|
0.00021
|
|
NM_002618.4(PEX13):c.354T>C (p.Phe118=)
|
rs143378216
|
0.00021
|
|
NM_002633.3(PGM1):c.420A>G (p.Pro140=)
|
rs141007881
|
0.00021
|
|
NM_002878.4(RAD51D):c.983C>T (p.Thr328Ile)
|
rs138969595
|
0.00021
|
|
NM_002972.4(SBF1):c.1918G>C (p.Glu640Gln)
|
rs199783239
|
0.00021
|
|
NM_003235.5(TG):c.1020C>T (p.Asp340=)
|
rs138114586
|
0.00021
|
|
NM_003242.6(TGFBR2):c.4G>T (p.Gly2Cys)
|
rs565502802
|
0.00021
|
|
NM_003477.3(PDHX):c.1333T>G (p.Phe445Val)
|
rs147948716
|
0.00021
|
|
NM_003480.4(MFAP5):c.341G>A (p.Arg114Gln)
|
rs774489509
|
0.00021
|
|
NM_003640.5(ELP1):c.1878C>T (p.Asp626=)
|
rs141596257
|
0.00021
|
|
NM_003673.4(TCAP):c.458G>A (p.Arg153His)
|
rs149585781
|
0.00021
|
|
NM_003722.5(TP63):c.504C>T (p.Asn168=)
|
rs141278696
|
0.00021
|
|
NM_003849.4(SUCLG1):c.87C>T (p.Arg29=)
|
rs371938859
|
0.00021
|
|
NM_004064.5(CDKN1B):c.-80C>T
|
rs551236750
|
0.00021
|
|
NM_004100.5(EYA4):c.987G>T (p.Met329Ile)
|
rs146144708
|
0.00021
|
|
NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu)
|
rs114284669
|
0.00021
|
|
NM_004369.4(COL6A3):c.759C>T (p.Thr253=)
|
rs376087730
|
0.00021
|
|
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr)
|
rs191233787
|
0.00021
|
|
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys)
|
rs150339369
|
0.00021
|
|
NM_004463.3(FGD1):c.1563C>T (p.Pro521=)
|
rs201996522
|
0.00021
|
|
NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser)
|
rs118192254
|
0.00021
|
|
NM_004525.3(LRP2):c.230A>T (p.Glu77Val)
|
rs200113428
|
0.00021
|
|
NM_004525.3(LRP2):c.3128A>G (p.Tyr1043Cys)
|
rs201299366
|
0.00021
|
|
NM_004525.3(LRP2):c.6130G>A (p.Ala2044Thr)
|
rs142266106
|
0.00021
|
|
NM_004553.6(NDUFS6):c.198C>T (p.Asn66=)
|
rs140887831
|
0.00021
|
|
NM_004565.3(PEX14):c.360A>G (p.Ala120=)
|
rs148479162
|
0.00021
|
|
NM_004568.6(SERPINB6):c.430+3G>A
|
rs201080069
|
0.00021
|
|
NM_004795.4(KL):c.387C>T (p.Tyr129=)
|
rs373385333
|
0.00021
|
|
NM_004944.4(DNASE1L3):c.217G>A (p.Glu73Lys)
|
rs149330798
|
0.00021
|
|
NM_005045.4(RELN):c.1231C>A (p.Leu411Ile)
|
rs144978163
|
0.00021
|
|
NM_005138.3(SCO2):c.460G>A (p.Glu154Lys)
|
rs148930837
|
0.00021
|
|
NM_005186.4(CAPN1):c.1341+7A>T
|
rs368589277
|
0.00021
|
|
NM_005373.3(MPL):c.209C>T (p.Pro70Leu)
|
rs61754776
|
0.00021
|
|
NM_005422.4(TECTA):c.2945T>C (p.Leu982Pro)
|
rs141616288
|
0.00021
|
|
NM_005422.4(TECTA):c.3317G>A (p.Gly1106Asp)
|
rs144844263
|
0.00021
|
|
NM_005535.3(IL12RB1):c.1048G>A (p.Gly350Arg)
|
rs200811721
|
0.00021
|
|
NM_005546.4(ITK):c.237G>A (p.Pro79=)
|
rs201403794
|
0.00021
|
|
NM_005591.4(MRE11):c.1491C>T (p.Ile497=)
|
rs199634245
|
0.00021
|
|
NM_005609.4(PYGM):c.1143G>A (p.Leu381=)
|
rs143401208
|
0.00021
|
|
NM_005881.4(BCKDK):c.1185C>T (p.Asp395=)
|
rs141335706
|
0.00021
|
|
NM_006005.3(WFS1):c.1758C>T (p.Ala586=)
|
rs145144527
|
0.00021
|
|
NM_006017.3(PROM1):c.181A>G (p.Ile61Val)
|
rs201701647
|
0.00021
|
|
NM_006031.6(PCNT):c.5940C>T (p.Gly1980=)
|
rs150436577
|
0.00021
|
|
NM_006208.3(ENPP1):c.2336C>A (p.Thr779Asn)
|
rs200239821
|
0.00021
|
|
NM_006329.4(FBLN5):c.621T>C (p.Asp207=)
|
rs200178859
|
0.00021
|
|
NM_006383.4(CIB2):c.366C>T (p.Phe122=)
|
rs374836619
|
0.00021
|
|
NM_006393.3(NEBL):c.82-4A>G
|
rs368268112
|
0.00021
|
|
NM_006432.5(NPC2):c.292A>C (p.Asn98His)
|
rs142858704
|
0.00021
|
|
NM_006514.4(SCN10A):c.4552G>A (p.Val1518Ile)
|
rs202040659
|
0.00021
|
|
NM_006514.4(SCN10A):c.724T>A (p.Ser242Thr)
|
rs140288103
|
0.00021
|
|
NM_006623.4(PHGDH):c.412-15C>T
|
rs368681081
|
0.00021
|
|
NM_006767.4(LZTR1):c.1412G>A (p.Arg471His)
|
rs139031749
|
0.00021
|
|
NM_006922.4(SCN3A):c.3933T>C (p.Pro1311=)
|
rs138766015
|
0.00021
|
|
NM_006922.4(SCN3A):c.5825A>G (p.Gln1942Arg)
|
rs149264761
|
0.00021
|
|
NM_007208.4(MRPL3):c.985C>T (p.Pro329Ser)
|
rs145183319
|
0.00021
|
|
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu)
|
rs80357147
|
0.00021
|
|
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys)
|
rs28897683
|
0.00021
|
|
NM_007294.4(BRCA1):c.5411T>A (p.Val1804Asp)
|
rs80356920
|
0.00021
|
|
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile)
|
rs80357090
|
0.00021
|
|
NM_012062.5(DNM1L):c.415G>A (p.Val139Ile)
|
rs150170255
|
0.00021
|
|
NM_012073.5(CCT5):c.1425C>T (p.Thr475=)
|
rs370529963
|
0.00021
|
|
NM_012330.4(KAT6B):c.4211G>A (p.Arg1404His)
|
rs563033366
|
0.00021
|
|
NM_014244.5(ADAMTS2):c.2893G>A (p.Glu965Lys)
|
rs144138766
|
0.00021
|
|
NM_014244.5(ADAMTS2):c.3154T>G (p.Ser1052Ala)
|
rs201390756
|
0.00021
|
|
NM_014336.5(AIPL1):c.737A>C (p.Tyr246Ser)
|
rs138585919
|
0.00021
|
|
NM_014425.5(INVS):c.67G>A (p.Val23Ile)
|
rs145303373
|
0.00021
|
|
NM_014679.5(CEP57):c.95C>T (p.Ser32Phe)
|
rs139110744
|
0.00021
|
|
NM_014714.4(IFT140):c.3271-4G>A
|
rs200815296
|
0.00021
|
|
NM_014714.4(IFT140):c.410G>A (p.Arg137Gln)
|
rs145718272
|
0.00021
|
|
NM_014915.3(ANKRD26):c.153C>G (p.His51Gln)
|
rs139049098
|
0.00021
|
|
NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=)
|
rs202149647
|
0.00021
|
|
NM_015295.3(SMCHD1):c.1608A>G (p.Lys536=)
|
rs72862973
|
0.00021
|
|
NM_015662.3(IFT172):c.2350C>T (p.Arg784Trp)
|
rs137906877
|
0.00021
|
|
NM_016203.4(PRKAG2):c.521C>T (p.Thr174Met)
|
rs148056866
|
0.00021
|
|
NM_016204.4(GDF2):c.1290G>A (p.Ter430=)
|
rs139568056
|
0.00021
|
|
NM_016239.4(MYO15A):c.5055C>T (p.Ala1685=)
|
rs201026034
|
0.00021
|
|
NM_016239.4(MYO15A):c.8768G>A (p.Arg2923Gln)
|
rs761180573
|
0.00021
|
|
NM_017636.4(TRPM4):c.748C>T (p.Arg250Cys)
|
rs144208673
|
0.00021
|
|
NM_017654.4(SAMD9):c.4417C>T (p.Arg1473Cys)
|
rs145665736
|
0.00021
|
|
NM_017662.5(TRPM6):c.499G>T (p.Ala167Ser)
|
rs141014694
|
0.00021
|
|
NM_017755.6(NSUN2):c.915C>T (p.Arg305=)
|
rs527650370
|
0.00021
|
|
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=)
|
rs61743849
|
0.00021
|
|
NM_017780.4(CHD7):c.7085G>A (p.Ser2362Asn)
|
rs139876661
|
0.00021
|
|
NM_017882.3(CLN6):c.282C>A (p.Pro94=)
|
rs139261571
|
0.00021
|
|
NM_018136.5(ASPM):c.7114A>G (p.Arg2372Gly)
|
rs190693455
|
0.00021
|
|
NM_018136.5(ASPM):c.8452G>T (p.Ala2818Ser)
|
rs188955444
|
0.00021
|
|
NM_018136.5(ASPM):c.8741T>C (p.Ile2914Thr)
|
rs200856894
|
0.00021
|
|
NM_018451.5(CENPJ):c.2852A>G (p.Gln951Arg)
|
rs138675304
|
0.00021
|
|
NM_018714.3(COG1):c.2365G>A (p.Glu789Lys)
|
rs201867802
|
0.00021
|
|
NM_018896.5(CACNA1G):c.6244G>A (p.Val2082Ile)
|
rs752773885
|
0.00021
|
|
NM_018993.4(RIN2):c.-20G>A
|
rs375404772
|
0.00021
|
|
NM_019844.4(SLCO1B3):c.484T>G (p.Cys162Gly)
|
rs140353351
|
0.00021
|
|
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu)
|
rs201806708
|
0.00021
|
|
NM_020223.4(FAM20C):c.1299G>A (p.Pro433=)
|
rs568534039
|
0.00021
|
|
NM_020376.4(PNPLA2):c.726C>T (p.Tyr242=)
|
rs144220751
|
0.00021
|
|
NM_020822.3(KCNT1):c.1928G>A (p.Arg643Gln)
|
rs141281093
|
0.00021
|
|
NM_020937.4(FANCM):c.5108A>G (p.His1703Arg)
|
rs146897650
|
0.00021
|
|
NM_021098.3(CACNA1H):c.6625G>C (p.Ala2209Pro)
|
rs59103647
|
0.00021
|
|
NM_021625.5(TRPV4):c.2559C>T (p.Cys853=)
|
rs139580010
|
0.00021
|
|
NM_021728.4(OTX2):c.273+11T>C
|
rs371958059
|
0.00021
|
|
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg)
|
rs62626271
|
0.00021
|
|
NM_022039.4(FBXW4):c.755T>C (p.Val252Ala)
|
rs143070839
|
0.00021
|
|
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile)
|
rs550384315
|
0.00021
|
|
NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu)
|
rs199894395
|
0.00021
|
|
NM_022124.6(CDH23):c.551G>A (p.Arg184His)
|
rs201132251
|
0.00021
|
|
NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val)
|
rs143156315
|
0.00021
|
|
NM_022436.3(ABCG5):c.1118+13C>G
|
rs371609600
|
0.00021
|
|
NM_022455.5(NSD1):c.1635G>A (p.Thr545=)
|
rs371958844
|
0.00021
|
|
NM_023036.6(DNAI2):c.1723-1G>T
|
rs201909971
|
0.00021
|
|
NM_023036.6(DNAI2):c.571C>T (p.Pro191Ser)
|
rs201457010
|
0.00021
|
|
NM_024422.6(DSC2):c.907G>A (p.Val303Met)
|
rs145560678
|
0.00021
|
|
NM_024596.5(MCPH1):c.1752A>G (p.Pro584=)
|
rs372450763
|
0.00021
|
|
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe)
|
rs61756147
|
0.00021
|
|
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly)
|
rs45594034
|
0.00021
|
|
NM_024876.4(COQ8B):c.1364A>G (p.Tyr455Cys)
|
rs144343899
|
0.00021
|
|
NM_024884.3(L2HGDH):c.1177A>G (p.Thr393Ala)
|
rs150157112
|
0.00021
|
|
NM_025099.6(CTC1):c.1333C>T (p.Arg445Cys)
|
rs201273283
|
0.00021
|
|
NM_025114.4(CEP290):c.3408A>G (p.Gln1136=)
|
rs11836796
|
0.00021
|
|
NM_032119.4(ADGRV1):c.12350G>A (p.Arg4117His)
|
rs202067248
|
0.00021
|
|
NM_032119.4(ADGRV1):c.9643G>A (p.Glu3215Lys)
|
rs199499672
|
0.00021
|
|
NM_032415.7(CARD11):c.1595C>T (p.Thr532Met)
|
rs201780608
|
0.00021
|
|
NM_032578.4(MYPN):c.952G>A (p.Val318Ile)
|
rs112518450
|
0.00021
|
|
NM_033305.3(VPS13A):c.6379-19T>G
|
rs766881111
|
0.00021
|
|
NM_033380.3(COL4A5):c.3296C>T (p.Ser1099Phe)
|
rs767087695
|
0.00021
|
|
NM_052845.4(MMAB):c.333C>T (p.Ala111=)
|
rs769385276
|
0.00021
|
|
NM_052859.4(RFT1):c.831G>A (p.Val277=)
|
rs150391936
|
0.00021
|
|
NM_052867.4(NALCN):c.3058-11A>G
|
rs201506269
|
0.00021
|
|
NM_078470.6(COX15):c.664C>T (p.Arg222Cys)
|
rs2231682
|
0.00021
|
|
NM_080680.3(COL11A2):c.4651C>T (p.Arg1551Trp)
|
rs141254777
|
0.00021
|
|
NM_130837.3(OPA1):c.3027A>C (p.Glu1009Asp)
|
rs189036094
|
0.00021
|
|
NM_133379.5(TTN):c.16020T>C (p.His5340=)
|
rs200378944
|
0.00021
|
|
NM_138691.3(TMC1):c.703G>T (p.Ala235Ser)
|
rs200831684
|
0.00021
|
|
NM_138694.4(PKHD1):c.8141G>A (p.Arg2714Gln)
|
rs371665285
|
0.00021
|
|
NM_138694.4(PKHD1):c.8554+3A>G
|
rs370312392
|
0.00021
|
|
NM_139027.6(ADAMTS13):c.2545G>A (p.Val849Ile)
|
rs140639242
|
0.00021
|
|
NM_144670.6(A2ML1):c.221G>C (p.Arg74Thr)
|
rs77657214
|
0.00021
|
|
NM_144670.6(A2ML1):c.2404C>T (p.Arg802Cys)
|
rs367937691
|
0.00021
|
|
NM_145691.4(ATPAF2):c.634G>T (p.Ala212Ser)
|
rs141020107
|
0.00021
|
|
NM_152743.4(BRAT1):c.2340C>G (p.Asp780Glu)
|
rs201045158
|
0.00021
|
|
NM_153676.4(USH1C):c.513C>T (p.Pro171=)
|
rs199739341
|
0.00021
|
|
NM_170707.4(LMNA):c.1017G>A (p.Ala339=)
|
rs17847242
|
0.00021
|
|
NM_173630.4(RTTN):c.86T>C (p.Ile29Thr)
|
rs201689582
|
0.00021
|
|
NM_173842.3(IL1RN):c.117-9C>T
|
rs373136455
|
0.00021
|
|
NM_174934.4(SCN4B):c.18C>A (p.Asp6Glu)
|
rs149979176
|
0.00021
|
|
NM_177438.3(DICER1):c.4773C>T (p.Leu1591=)
|
rs138308365
|
0.00021
|
|
NM_177438.3(DICER1):c.4901T>C (p.Leu1634Ser)
|
rs149723645
|
0.00021
|
|
NM_181426.2(CCDC39):c.1035-5T>C
|
rs200089274
|
0.00021
|
|
NM_182894.3(VSX2):c.244G>A (p.Gly82Arg)
|
rs375294678
|
0.00021
|
|
NM_182914.3(SYNE2):c.12903C>T (p.Gly4301=)
|
rs148708516
|
0.00021
|
|
NM_182920.2(ADAMTS9):c.194C>G (p.Thr65Arg)
|
rs192420947
|
0.00021
|
|
NM_182961.4(SYNE1):c.11253+9G>A
|
rs368012172
|
0.00021
|
|
NM_182961.4(SYNE1):c.16296G>A (p.Arg5432=)
|
rs144376043
|
0.00021
|
|
NM_182961.4(SYNE1):c.3669+4C>G
|
rs376511242
|
0.00021
|
|
NM_182961.4(SYNE1):c.3850C>T (p.Arg1284Trp)
|
rs140780725
|
0.00021
|
|
NM_194248.3(OTOF):c.2252C>T (p.Thr751Met)
|
rs727503359
|
0.00021
|
|
NM_194248.3(OTOF):c.327+10C>A
|
rs377042002
|
0.00021
|
|
NM_198428.3(BBS9):c.771A>G (p.Ala257=)
|
rs145007686
|
0.00021
|
|
NM_198525.3(KIF7):c.612C>T (p.His204=)
|
rs398124613
|
0.00021
|
|
NM_198578.4(LRRK2):c.5799A>T (p.Ile1933=)
|
rs139746572
|
0.00021
|
|
NM_198586.3(NHLRC1):c.990G>A (p.Gln330=)
|
rs148553723
|
0.00021
|
|
NM_201384.3(PLEC):c.11634G>A (p.Ser3878=)
|
rs375097273
|
0.00021
|
|
NM_201384.3(PLEC):c.6605A>G (p.Lys2202Arg)
|
rs201928401
|
0.00021
|
|
NM_201384.3(PLEC):c.7686C>T (p.Ala2562=)
|
rs534269714
|
0.00021
|
|
NM_201384.3(PLEC):c.8041G>A (p.Glu2681Lys)
|
rs200128670
|
0.00021
|
|
NM_201384.3(PLEC):c.885G>A (p.Met295Ile)
|
rs201041690
|
0.00021
|
|
NM_201384.3(PLEC):c.9929C>T (p.Ala3310Val)
|
rs183230983
|
0.00021
|
|
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val)
|
rs149684063
|
0.00021
|
|
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val)
|
rs150038447
|
0.00020
|
|
NM_000052.7(ATP7A):c.2519A>T (p.Glu840Val)
|
rs372318616
|
0.00020
|
|
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly)
|
rs56403624
|
0.00020
|
|
NM_000059.4(BRCA2):c.2589T>A (p.Asn863Lys)
|
rs80358521
|
0.00020
|
|
NM_000059.4(BRCA2):c.5020A>G (p.Ser1674Gly)
|
rs80358725
|
0.00020
|
|
NM_000059.4(BRCA2):c.5710C>G (p.Leu1904Val)
|
rs55875643
|
0.00020
|
|
NM_000059.4(BRCA2):c.6803G>A (p.Arg2268Lys)
|
rs80358906
|
0.00020
|
|
NM_000064.4(C3):c.2050G>A (p.Gly684Ser)
|
rs201872466
|
0.00020
|
|
NM_000079.4(CHRNA1):c.1294G>A (p.Gly432Arg)
|
rs151081792
|
0.00020
|
|
NM_000081.4(LYST):c.10477T>C (p.Phe3493Leu)
|
rs200511787
|
0.00020
|
|
NM_000092.5(COL4A4):c.193-9C>G
|
rs190570269
|
0.00020
|
|
NM_000092.5(COL4A4):c.929G>A (p.Arg310Gln)
|
rs373741172
|
0.00020
|
|
NM_000094.4(COL7A1):c.3107G>A (p.Arg1036Gln)
|
rs150873722
|
0.00020
|
|
NM_000094.4(COL7A1):c.3809C>T (p.Pro1270Leu)
|
rs145068043
|
0.00020
|
|
NM_000098.3(CPT2):c.1943T>C (p.Phe648Ser)
|
rs138125299
|
0.00020
|
|
NM_000117.3(EMD):c.428C>T (p.Ser143Phe)
|
rs139983160
|
0.00020
|
|
NM_000124.4(ERCC6):c.1801G>A (p.Gly601Ser)
|
rs138758064
|
0.00020
|
|
NM_000128.4(F11):c.1028+9T>C
|
rs376630194
|
0.00020
|
|
NM_000142.5(FGFR3):c.1550A>G (p.Lys517Arg)
|
rs139707740
|
0.00020
|
|
NM_000152.5(GAA):c.1888+10_1888+11insC
|
rs748036956
|
0.00020
|
|
NM_000152.5(GAA):c.2253C>T (p.Leu751=)
|
rs140441758
|
0.00020
|
|
NM_000203.5(IDUA):c.1002G>A (p.Leu334=)
|
rs370582480
|
0.00020
|
|
NM_000203.5(IDUA):c.1332C>T (p.Asp444=)
|
rs545473192
|
0.00020
|
|
NM_000217.3(KCNA1):c.60G>C (p.Gln20His)
|
rs201504073
|
0.00020
|
|
NM_000218.3(KCNQ1):c.1352G>A (p.Arg451Gln)
|
rs199472781
|
0.00020
|
|
NM_000243.3(MEFV):c.1370C>T (p.Ala457Val)
|
rs104895151
|
0.00020
|
|
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)
|
rs63750361
|
0.00020
|
|
NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn)
|
rs376736293
|
0.00020
|
|
NM_000286.3(PEX12):c.84T>C (p.Ser28=)
|
rs200641558
|
0.00020
|
|
NM_000312.4(PROC):c.-54G>A
|
rs2069936
|
0.00020
|
|
NM_000382.3(ALDH3A2):c.1188T>G (p.Ser396=)
|
rs144496536
|
0.00020
|
|
NM_000384.3(APOB):c.12959T>C (p.Met4320Thr)
|
rs377127458
|
0.00020
|
|
NM_000384.3(APOB):c.3724T>A (p.Ser1242Thr)
|
rs200261177
|
0.00020
|
|
NM_000426.4(LAMA2):c.2304C>T (p.Asp768=)
|
rs142126511
|
0.00020
|
|
NM_000426.4(LAMA2):c.5558T>G (p.Ile1853Arg)
|
rs141911213
|
0.00020
|
|
NM_000426.4(LAMA2):c.8988+15T>C
|
rs201041465
|
0.00020
|
|
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr)
|
rs104894363
|
0.00020
|
|
NM_000435.3(NOTCH3):c.2437G>A (p.Glu813Lys)
|
rs375873637
|
0.00020
|
|
NM_000441.2(SLC26A4):c.1491T>C (p.Gly497=)
|
rs150860491
|
0.00020
|
|
NM_000455.5(STK11):c.1296G>A (p.Gln432=)
|
rs587781179
|
0.00020
|
|
NM_000501.4(ELN):c.1994-7T>G
|
rs375277198
|
0.00020
|
|
NM_000525.4(KCNJ11):c.568G>A (p.Ala190Thr)
|
rs77131926
|
0.00020
|
|
NM_000528.4(MAN2B1):c.34G>A (p.Ala12Thr)
|
rs747538432
|
0.00020
|
|
NM_000540.3(RYR1):c.2822C>T (p.Ala941Val)
|
rs748568687
|
0.00020
|
|
NM_000553.6(WRN):c.1382C>T (p.Thr461Met)
|
rs371602600
|
0.00020
|
|
NM_000553.6(WRN):c.3139-9T>C
|
rs377226126
|
0.00020
|
|
NM_000642.3(AGL):c.1537A>T (p.Thr513Ser)
|
rs143987049
|
0.00020
|
|
NM_000751.3(CHRND):c.45G>A (p.Ala15=)
|
rs138609765
|
0.00020
|
|
NM_001003722.2(GLE1):c.643-4A>G
|
rs369804957
|
0.00020
|
|
NM_001009944.3(PKD1):c.11672G>A (p.Arg3891His)
|
rs950293866
|
0.00020
|
|
NM_001009944.3(PKD1):c.6395T>G (p.Phe2132Cys)
|
rs150154235
|
0.00020
|
|
NM_001035.3(RYR2):c.14220C>T (p.Ala4740=)
|
rs368971586
|
0.00020
|
|
NM_001039141.3(TRIOBP):c.3774C>T (p.Pro1258=)
|
rs377749969
|
0.00020
|
|
NM_001065.4(TNFRSF1A):c.645C>T (p.Pro215=)
|
rs147075345
|
0.00020
|
|
NM_001080.3(ALDH5A1):c.1344-6T>C
|
rs368212282
|
0.00020
|
|
NM_001080442.3(SLC38A8):c.389-9C>G
|
rs376444481
|
0.00020
|
|
NM_001083111.2(GNRH1):c.270G>T (p.Lys90Asn)
|
rs372089839
|
0.00020
|
|
NM_001097577.3(ANG):c.3G>A (p.Met1Ile)
|
rs201068740
|
0.00020
|
|
NM_001099274.3(TINF2):c.507+6G>A
|
rs142144996
|
0.00020
|
|
NM_001105206.3(LAMA4):c.4852C>T (p.Leu1618Phe)
|
rs397516733
|
0.00020
|
|
NM_001126108.2(SLC12A3):c.2310C>T (p.Gly770=)
|
rs375542454
|
0.00020
|
|
NM_001127222.2(CACNA1A):c.7189G>A (p.Val2397Met)
|
rs768129470
|
0.00020
|
|
NM_001130987.2(DYSF):c.1784C>T (p.Ala595Val)
|
rs201515915
|
0.00020
|
|
NM_001130987.2(DYSF):c.3695C>T (p.Pro1232Leu)
|
rs150942486
|
0.00020
|
|
NM_001134363.3(RBM20):c.773C>T (p.Ser258Leu)
|
rs749285793
|
0.00020
|
|
NM_001164508.2(NEB):c.10608C>T (p.Gly3536=)
|
rs144673752
|
0.00020
|
|
NM_001164508.2(NEB):c.6381T>A (p.Asp2127Glu)
|
rs368302286
|
0.00020
|
|
NM_001170629.2(CHD8):c.4921+5G>A
|
rs377595194
|
0.00020
|
|
NM_001174150.2(ARL13B):c.1253G>A (p.Arg418Gln)
|
rs142510905
|
0.00020
|
|
NM_001204.7(BMPR2):c.1042G>A (p.Val348Ile)
|
rs201067849
|
0.00020
|
|
NM_001243279.3(ACSF3):c.1704G>A (p.Ala568=)
|
rs539500659
|
0.00020
|
|
NM_001267550.2(TTN):c.102520G>A (p.Val34174Ile)
|
rs200430493
|
0.00020
|
|
NM_001267550.2(TTN):c.104516G>A (p.Arg34839Gln)
|
rs371628882
|
0.00020
|
|
NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser)
|
rs72648922
|
0.00020
|
|
NM_001267550.2(TTN):c.21656C>T (p.Ser7219Phe)
|
rs201029552
|
0.00020
|
|
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His)
|
rs373355159
|
0.00020
|
|
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln)
|
rs200831060
|
0.00020
|
|
NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln)
|
rs367720439
|
0.00020
|
|
NM_001267550.2(TTN):c.58796C>T (p.Thr19599Ile)
|
rs367816473
|
0.00020
|
|
NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp)
|
rs200726948
|
0.00020
|
|
NM_001267550.2(TTN):c.69853G>A (p.Glu23285Lys)
|
rs376870149
|
0.00020
|
|
NM_001267550.2(TTN):c.80555G>A (p.Arg26852His)
|
rs202149931
|
0.00020
|
|
NM_001267550.2(TTN):c.84203G>C (p.Ser28068Thr)
|
rs72648219
|
0.00020
|
|
NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe)
|
rs201831707
|
0.00020
|
|
NM_001267550.2(TTN):c.93244G>A (p.Glu31082Lys)
|
rs199663613
|
0.00020
|
|
NM_001277115.2(DNAH11):c.13399G>A (p.Val4467Met)
|
rs200609513
|
0.00020
|
|
NM_001278064.2(GRM1):c.2725A>C (p.Met909Leu)
|
rs138759146
|
0.00020
|
|
NM_001278512.2(AP3B2):c.588G>C (p.Thr196=)
|
rs202130220
|
0.00020
|
|
NM_001283009.2(RTEL1):c.1581C>T (p.Ser527=)
|
rs78258482
|
0.00020
|
|
NM_001286577.2(C2CD3):c.2663G>A (p.Arg888Gln)
|
rs143196767
|
0.00020
|
|
NM_001291303.3(FAT4):c.11380C>T (p.Arg3794Trp)
|
rs201859188
|
0.00020
|
|
NM_001291415.2(KDM6A):c.2212C>T (p.Pro738Ser)
|
rs200638114
|
0.00020
|
|
NM_001292063.2(OTOG):c.3751G>A (p.Gly1251Ser)
|
rs769211682
|
0.00020
|
|
NM_001354604.2(MITF):c.316C>T (p.Leu106Phe)
|
rs371080525
|
0.00020
|
|
NM_001355436.2(SPTB):c.6484G>A (p.Glu2162Lys)
|
rs375816870
|
0.00020
|
|
NM_001365088.1(SLC12A6):c.966C>T (p.Gly322=)
|
rs142496698
|
0.00020
|
|
NM_001374353.1(GLI2):c.4506C>T (p.Gly1502=)
|
rs200499325
|
0.00020
|
|
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln)
|
rs149278000
|
0.00020
|
|
NM_001378454.1(ALMS1):c.280C>T (p.Pro94Ser)
|
rs775431837
|
0.00020
|
|
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser)
|
rs199922877
|
0.00020
|
|
NM_001378454.1(ALMS1):c.6442C>A (p.Pro2148Thr)
|
rs377360750
|
0.00020
|
|
NM_001382347.1(MYO5A):c.3567+4C>T
|
rs186277072
|
0.00020
|
|
NM_001384474.1(LOXHD1):c.977A>G (p.Asn326Ser)
|
rs188528174
|
0.00020
|
|
NM_001458.5(FLNC):c.2128G>A (p.Asp710Asn)
|
rs370035829
|
0.00020
|
|
NM_001692.4(ATP6V1B1):c.40G>A (p.Gly14Ser)
|
rs111306070
|
0.00020
|
|
NM_001734.5(C1S):c.1114G>T (p.Asp372Tyr)
|
rs201750214
|
0.00020
|
|
NM_001845.6(COL4A1):c.3946C>G (p.Gln1316Glu)
|
rs377122126
|
0.00020
|
|
NM_001848.3(COL6A1):c.2601C>T (p.Pro867=)
|
rs200124802
|
0.00020
|
|
NM_001849.4(COL6A2):c.759A>G (p.Glu253=)
|
rs140404854
|
0.00020
|
|
NM_001966.4(EHHADH):c.1938T>G (p.Ile646Met)
|
rs140527463
|
0.00020
|
|
NM_002055.5(GFAP):c.329C>G (p.Thr110Ser)
|
rs147282497
|
0.00020
|
|
NM_002055.5(GFAP):c.676G>A (p.Val226Met)
|
rs149883728
|
0.00020
|
|
NM_002292.4(LAMB2):c.253G>A (p.Glu85Lys)
|
rs140371771
|
0.00020
|
|
NM_002303.6(LEPR):c.3019A>T (p.Ser1007Cys)
|
rs145651189
|
0.00020
|
|
NM_002490.6(NDUFA6):c.255+5C>T
|
rs370102519
|
0.00020
|
|
NM_003098.3(SNTA1):c.566C>T (p.Ser189Leu)
|
rs144860423
|
0.00020
|
|
NM_003482.4(KMT2D):c.8382C>A (p.Gly2794=)
|
rs368967997
|
0.00020
|
|
NM_004006.3(DMD):c.7521C>T (p.Asn2507=)
|
rs112516305
|
0.00020
|
|
NM_004064.5(CDKN1B):c.407A>G (p.Asp136Gly)
|
rs546234840
|
0.00020
|
|
NM_004082.5(DCTN1):c.837G>A (p.Ala279=)
|
rs72466489
|
0.00020
|
|
NM_004320.6(ATP2A1):c.1329A>G (p.Thr443=)
|
rs376915313
|
0.00020
|
|
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala)
|
rs142717240
|
0.00020
|
|
NM_004434.3(EML1):c.356A>G (p.Lys119Arg)
|
rs199650308
|
0.00020
|
|
NM_004544.4(NDUFA10):c.404T>C (p.Leu135Ser)
|
rs140776586
|
0.00020
|
|
NM_004551.3(NDUFS3):c.736C>T (p.Arg246Cys)
|
rs376722149
|
0.00020
|
|
NM_004612.4(TGFBR1):c.49C>T (p.Leu17=)
|
rs878854714
|
0.00020
|
|
NM_004655.4(AXIN2):c.203G>A (p.Arg68Gln)
|
rs138056036
|
0.00020
|
|
NM_004722.4(AP4M1):c.295G>A (p.Glu99Lys)
|
rs200347699
|
0.00020
|
|
NM_004820.5(CYP7B1):c.90C>T (p.Leu30=)
|
rs571177831
|
0.00020
|
|
NM_004839.4(HOMER2):c.609G>T (p.Gln203His)
|
rs200964994
|
0.00020
|
|
NM_004972.4(JAK2):c.143G>A (p.Gly48Glu)
|
rs143227399
|
0.00020
|
|
NM_005249.5(FOXG1):c.456G>T (p.Gly152=)
|
rs587783637
|
0.00020
|
|
NM_005327.7(HADH):c.*514A>G
|
rs183594888
|
0.00020
|
|
NM_005422.4(TECTA):c.2544G>A (p.Leu848=)
|
rs144582229
|
0.00020
|
|
NM_005732.4(RAD50):c.2525T>C (p.Val842Ala)
|
rs28903093
|
0.00020
|
|
NM_005921.2(MAP3K1):c.934A>T (p.Met312Leu)
|
rs376808920
|
0.00020
|
|
NM_005993.5(TBCD):c.541G>C (p.Ala181Pro)
|
rs201980005
|
0.00020
|
|
NM_006031.6(PCNT):c.5370C>T (p.Gly1790=)
|
rs192388432
|
0.00020
|
|
NM_006031.6(PCNT):c.5680G>A (p.Val1894Ile)
|
rs113208348
|
0.00020
|
|
NM_006231.4(POLE):c.1645T>C (p.Ser549Pro)
|
rs115558715
|
0.00020
|
|
NM_006393.3(NEBL):c.2417C>T (p.Thr806Ile)
|
rs200705273
|
0.00020
|
|
NM_006922.4(SCN3A):c.1523A>G (p.Gln508Arg)
|
rs143763998
|
0.00020
|
|
NM_006946.4(SPTBN2):c.4374G>T (p.Glu1458Asp)
|
rs142378119
|
0.00020
|
|
NM_007272.3(CTRC):c.674A>C (p.Glu225Ala)
|
rs201486613
|
0.00020
|
|
NM_007294.4(BRCA1):c.1459G>T (p.Val487Phe)
|
rs369588942
|
0.00020
|
|
NM_012144.4(DNAI1):c.1454C>T (p.Thr485Met)
|
rs137935543
|
0.00020
|
|
NM_013339.4(ALG6):c.882T>C (p.Arg294=)
|
rs145894044
|
0.00020
|
|
NM_013435.3(RAX):c.783G>C (p.Pro261=)
|
rs766154387
|
0.00020
|
|
NM_014363.6(SACS):c.7200T>C (p.Phe2400=)
|
rs148544893
|
0.00020
|
|
NM_014363.6(SACS):c.9275A>T (p.Tyr3092Phe)
|
rs139579036
|
0.00020
|
|
NM_014714.4(IFT140):c.1230G>A (p.Ser410=)
|
rs199840711
|
0.00020
|
|
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu)
|
rs534886444
|
0.00020
|
|
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly)
|
rs117898549
|
0.00020
|
|
NM_015910.7(WDPCP):c.1789G>A (p.Val597Ile)
|
rs776917693
|
0.00020
|
|
NM_016239.4(MYO15A):c.8708G>A (p.Arg2903Gln)
|
rs200781310
|
0.00020
|
|
NM_017433.5(MYO3A):c.4073G>A (p.Arg1358Gln)
|
rs141903506
|
0.00020
|
|
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=)
|
rs202133782
|
0.00020
|
|
NM_017636.4(TRPM4):c.1874-9C>T
|
rs199805560
|
0.00020
|
|
NM_017757.3(ZNF407):c.4010A>G (p.Tyr1337Cys)
|
rs760492866
|
0.00020
|
|
NM_017909.4(RMND1):c.1200+4C>T
|
rs186019987
|
0.00020
|
|
NM_017950.4(CCDC40):c.2229G>C (p.Glu743Asp)
|
rs377219039
|
0.00020
|
|
NM_018136.5(ASPM):c.7428G>T (p.Lys2476Asn)
|
rs200654820
|
0.00020
|
|
NM_018136.5(ASPM):c.8558G>A (p.Arg2853Gln)
|
rs148245202
|
0.00020
|
|
NM_018685.5(ANLN):c.1545G>A (p.Thr515=)
|
rs139579665
|
0.00020
|
|
NM_018979.4(WNK1):c.5851A>G (p.Thr1951Ala)
|
rs72650764
|
0.00020
|
|
NM_020451.3(SELENON):c.103G>C (p.Gly35Arg)
|
rs398124359
|
0.00020
|
|
NM_020461.4(TUBGCP6):c.5285C>T (p.Pro1762Leu)
|
rs201721812
|
0.00020
|
|
NM_020754.4(ARHGAP31):c.3463T>C (p.Trp1155Arg)
|
rs369750406
|
0.00020
|
|
NM_020778.5(ALPK3):c.407C>T (p.Thr136Ile)
|
rs56015306
|
0.00020
|
|
NM_020937.4(FANCM):c.2267G>A (p.Arg756His)
|
rs142763060
|
0.00020
|
|
NM_021625.5(TRPV4):c.1378C>T (p.Arg460Trp)
|
rs34227547
|
0.00020
|
|
NM_022124.6(CDH23):c.3707G>A (p.Arg1236Gln)
|
rs186990940
|
0.00020
|
|
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val)
|
rs374362883
|
0.00020
|
|
NM_022455.5(NSD1):c.3692G>A (p.Gly1231Glu)
|
rs141065357
|
0.00020
|
|
NM_022552.5(DNMT3A):c.1155G>A (p.Pro385=)
|
rs368009374
|
0.00020
|
|
NM_025114.4(CEP290):c.1729C>T (p.Leu577=)
|
rs201295052
|
0.00020
|
|
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly)
|
rs184323010
|
0.00020
|
|
NM_031418.4(ANO3):c.295C>A (p.Leu99Ile)
|
rs370404701
|
0.00020
|
|
NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys)
|
rs138908576
|
0.00020
|
|
NM_053025.4(MYLK):c.455G>A (p.Arg152His)
|
rs201754358
|
0.00020
|
|
NM_054012.4(ASS1):c.765C>T (p.Asn255=)
|
rs375579096
|
0.00020
|
|
NM_133379.5(TTN):c.14327T>C (p.Leu4776Ser)
|
rs142132973
|
0.00020
|
|
NM_138694.4(PKHD1):c.7170T>C (p.Thr2390=)
|
rs368101035
|
0.00020
|
|
NM_139027.6(ADAMTS13):c.2686G>A (p.Val896Met)
|
rs147732725
|
0.00020
|
|
NM_144498.4(OSBPL2):c.598A>G (p.Ile200Val)
|
rs377525202
|
0.00020
|
|
NM_144997.7(FLCN):c.246C>T (p.Cys82=)
|
rs150712346
|
0.00020
|
|
NM_144997.7(FLCN):c.396+4A>G
|
rs370353839
|
0.00020
|
|
NM_152263.4(TPM3):c.804C>T (p.Tyr268=)
|
rs762511246
|
0.00020
|
|
NM_152564.5(VPS13B):c.2377C>G (p.Leu793Val)
|
rs141638933
|
0.00020
|
|
NM_153240.5(NPHP3):c.3336T>C (p.Ala1112=)
|
rs188431787
|
0.00020
|
|
NM_173689.7(CRB2):c.1494G>T (p.Trp498Cys)
|
rs144803819
|
0.00020
|
|
NM_174878.3(CLRN1):c.9C>A (p.Ser3Arg)
|
rs187218889
|
0.00020
|
|
NM_174936.4(PCSK9):c.499C>T (p.Arg167Trp)
|
rs137878146
|
0.00020
|
|
NM_181458.4(PAX3):c.540C>G (p.Ser180Arg)
|
rs200679164
|
0.00020
|
|
NM_182914.3(SYNE2):c.17723G>A (p.Arg5908His)
|
rs538344879
|
0.00020
|
|
NM_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu)
|
rs138368397
|
0.00020
|
|
NM_198578.4(LRRK2):c.2769G>C (p.Gln923His)
|
rs58559150
|
0.00020
|
|
NM_198904.4(GABRG2):c.1320G>A (p.Gly440=)
|
rs150727562
|
0.00020
|
|
NM_199069.2(NDUFAF3):c.193A>T (p.Ser65Cys)
|
rs200576852
|
0.00020
|
|
NM_201384.3(PLEC):c.11031C>T (p.Leu3677=)
|
rs376779580
|
0.00020
|
|
NM_201384.3(PLEC):c.2785C>T (p.Leu929=)
|
rs369676162
|
0.00020
|
|
NM_201384.3(PLEC):c.4076G>A (p.Arg1359His)
|
rs574482100
|
0.00020
|
|
NM_201548.5(CERKL):c.900T>C (p.His300=)
|
rs183252158
|
0.00020
|
|
NM_203290.4(POLR1C):c.490G>A (p.Val164Met)
|
rs200525225
|
0.00020
|
|
NM_206933.4(USH2A):c.6998T>C (p.Val2333Ala)
|
rs144817385
|
0.00020
|
|
NM_206933.4(USH2A):c.7038C>T (p.His2346=)
|
rs145718407
|
0.00020
|
|
NM_000023.4(SGCA):c.37+10G>T
|
rs200626376
|
0.00019
|
|
NM_000026.4(ADSL):c.357+7G>A
|
rs199993991
|
0.00019
|
|
NM_000030.3(AGXT):c.489G>A (p.Leu163=)
|
rs147601535
|
0.00019
|
|
NM_000037.4(ANK1):c.3533-10G>A
|
rs374510116
|
0.00019
|
|
NM_000038.6(APC):c.2205G>A (p.Ala735=)
|
rs141001261
|
0.00019
|
|
NM_000038.6(APC):c.3249T>G (p.Asp1083Glu)
|
rs201629780
|
0.00019
|
|
NM_000048.4(ASL):c.655+8G>A
|
rs200203985
|
0.00019
|
|
NM_000051.4(ATM):c.1272T>C (p.Pro424=)
|
rs35578748
|
0.00019
|
|
NM_000051.4(ATM):c.2495G>A (p.Arg832His)
|
rs199875915
|
0.00019
|
|
NM_000051.4(ATM):c.295A>G (p.Ser99Gly)
|
rs137882485
|
0.00019
|
|
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)
|
rs145119475
|
0.00019
|
|
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe)
|
rs35962982
|
0.00019
|
|
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)
|
rs147187700
|
0.00019
|
|
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg)
|
rs56399857
|
0.00019
|
|
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly)
|
rs376676328
|
0.00019
|
|
NM_000053.4(ATP7B):c.3069T>C (p.Thr1023=)
|
rs187343742
|
0.00019
|
|
NM_000053.4(ATP7B):c.740A>G (p.Glu247Gly)
|
rs376398239
|
0.00019
|
|
NM_000059.4(BRCA2):c.1123C>T (p.Pro375Ser)
|
rs80358408
|
0.00019
|
|
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn)
|
rs80358782
|
0.00019
|
|
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys)
|
rs55794205
|
0.00019
|
|
NM_000059.4(BRCA2):c.8487+8G>A
|
rs81002838
|
0.00019
|
|
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met)
|
rs59004709
|
0.00019
|
|
NM_000059.4(BRCA2):c.9770A>G (p.Lys3257Arg)
|
rs55847618
|
0.00019
|
|
NM_000064.4(C3):c.1923C>T (p.Asp641=)
|
rs113044084
|
0.00019
|
|
NM_000069.3(CACNA1S):c.3256-12T>A
|
rs374335683
|
0.00019
|
|
NM_000069.3(CACNA1S):c.3334T>G (p.Trp1112Gly)
|
rs151218760
|
0.00019
|
|
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser)
|
rs193922153
|
0.00019
|
|
NM_000088.4(COL1A1):c.3100-6C>T
|
rs377123276
|
0.00019
|
|
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu)
|
rs121912863
|
0.00019
|
|
NM_000093.5(COL5A1):c.3649C>T (p.Pro1217Ser)
|
rs139116598
|
0.00019
|
|
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg)
|
rs140797509
|
0.00019
|
|
NM_000093.5(COL5A1):c.4162C>T (p.Pro1388Ser)
|
rs61737942
|
0.00019
|
|
NM_000128.4(F11):c.1767G>T (p.Leu589=)
|
rs142054643
|
0.00019
|
|
NM_000130.5(F5):c.5124C>T (p.Tyr1708=)
|
rs199568344
|
0.00019
|
|
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro)
|
rs147672303
|
0.00019
|
|
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr)
|
rs143152201
|
0.00019
|
|
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg)
|
rs141133182
|
0.00019
|
|
NM_000142.5(FGFR3):c.2272G>A (p.Asp758Asn)
|
rs56266857
|
0.00019
|
|
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu)
|
rs146762316
|
0.00019
|
|
NM_000152.5(GAA):c.250G>A (p.Val84Ile)
|
rs139595011
|
0.00019
|
|
NM_000152.5(GAA):c.693-4G>T
|
rs200088236
|
0.00019
|
|
NM_000153.4(GALC):c.1272G>A (p.Gln424=)
|
rs376675180
|
0.00019
|
|
NM_000153.4(GALC):c.1573G>A (p.Glu525Lys)
|
rs146286491
|
0.00019
|
|
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)
|
rs183105855
|
0.00019
|
|
NM_000168.6(GLI3):c.3762T>C (p.Tyr1254=)
|
rs148043302
|
0.00019
|
|
NM_000170.3(GLDC):c.1530G>A (p.Gly510=)
|
rs145665442
|
0.00019
|
|
NM_000170.3(GLDC):c.2570-10T>C
|
rs373987254
|
0.00019
|
|
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly)
|
rs41295278
|
0.00019
|
|
NM_000179.3(MSH6):c.4001+11_4001+15dup
|
rs587779302
|
0.00019
|
|
NM_000180.4(GUCY2D):c.1499C>T (p.Pro500Leu)
|
rs200211315
|
0.00019
|
|
NM_000199.5(SGSH):c.570C>T (p.Tyr190=)
|
rs149951602
|
0.00019
|
|
NM_000202.8(IDS):c.104A>G (p.Asp35Gly)
|
rs144081417
|
0.00019
|
|
NM_000209.4(PDX1):c.848G>A (p.Arg283Gln)
|
rs754817283
|
0.00019
|
|
NM_000212.3(ITGB3):c.2196C>T (p.Leu732=)
|
rs201741054
|
0.00019
|
|
NM_000212.3(ITGB3):c.537C>T (p.Phe179=)
|
rs770144031
|
0.00019
|
|
NM_000212.3(ITGB3):c.900T>C (p.His300=)
|
rs376378154
|
0.00019
|
|
NM_000215.4(JAK3):c.2680+15G>A
|
rs201288968
|
0.00019
|
|
NM_000218.3(KCNQ1):c.386+16216G>A
|
rs201090517
|
0.00019
|
|
NM_000222.3(KIT):c.952A>G (p.Met318Val)
|
rs143388949
|
0.00019
|
|
NM_000243.3(MEFV):c.1038C>G (p.Gly346=)
|
rs141090517
|
0.00019
|
|
NM_000245.4(MET):c.665C>T (p.Thr222Met)
|
rs200776610
|
0.00019
|
|
NM_000249.4(MLH1):c.394G>C (p.Asp132His)
|
rs28930073
|
0.00019
|
|
NM_000251.3(MSH2):c.138C>G (p.His46Gln)
|
rs33946261
|
0.00019
|
|
NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr)
|
rs373946195
|
0.00019
|
|
NM_000260.4(MYO7A):c.1126A>G (p.Ile376Val)
|
rs368716988
|
0.00019
|
|
NM_000260.4(MYO7A):c.3955G>A (p.Val1319Ile)
|
rs200483708
|
0.00019
|
|
NM_000260.4(MYO7A):c.904C>T (p.Arg302Cys)
|
rs781922871
|
0.00019
|
|
NM_000260.4(MYO7A):c.970G>T (p.Ala324Ser)
|
rs376348438
|
0.00019
|
|
NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met)
|
rs138695961
|
0.00019
|
|
NM_000271.5(NPC1):c.1947+7_1947+11dup
|
rs1555634670
|
0.00019
|
|
NM_000271.5(NPC1):c.2257G>A (p.Val753Met)
|
rs146874573
|
0.00019
|
|
NM_000271.5(NPC1):c.3591C>T (p.Ser1197=)
|
rs191776973
|
0.00019
|
|
NM_000274.4(OAT):c.107G>C (p.Gly36Ala)
|
rs140786333
|
0.00019
|
|
NM_000275.3(OCA2):c.106C>T (p.Arg36Cys)
|
rs148066812
|
0.00019
|
|
NM_000277.3(PAH):c.399T>C (p.Asn133=)
|
rs145692106
|
0.00019
|
|
NM_000288.4(PEX7):c.188+3A>G
|
rs200234391
|
0.00019
|
|
NM_000293.3(PHKB):c.1204+9G>T
|
rs200832185
|
0.00019
|
|
NM_000293.3(PHKB):c.2629G>A (p.Gly877Arg)
|
rs150902092
|
0.00019
|
|
NM_000302.4(PLOD1):c.1172A>G (p.Asn391Ser)
|
rs763409574
|
0.00019
|
|
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu)
|
rs201556985
|
0.00019
|
|
NM_000308.4(CTSA):c.1059G>A (p.Pro353=)
|
rs74694805
|
0.00019
|
|
NM_000335.5(SCN5A):c.3228+6C>G
|
rs368048551
|
0.00019
|
|
NM_000335.5(SCN5A):c.998+5G>A
|
rs187531872
|
0.00019
|
|
NM_000337.6(SGCD):c.699+18C>G
|
rs180898690
|
0.00019
|
|
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg)
|
rs397516338
|
0.00019
|
|
NM_000352.6(ABCC8):c.1644G>T (p.Thr548=)
|
rs565996783
|
0.00019
|
|
NM_000355.4(TCN2):c.1017C>G (p.Leu339=)
|
rs35997415
|
0.00019
|
|
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys)
|
rs118203532
|
0.00019
|
|
NM_000377.3(WAS):c.1280C>T (p.Pro427Leu)
|
rs782307200
|
0.00019
|
|
NM_000383.4(AIRE):c.538+7G>A
|
rs575144370
|
0.00019
|
|
NM_000384.3(APOB):c.13444A>G (p.Ile4482Val)
|
rs142702699
|
0.00019
|
|
NM_000384.3(APOB):c.4532C>T (p.Thr1511Ile)
|
rs146247063
|
0.00019
|
|
NM_000384.3(APOB):c.9811G>A (p.Gly3271Ser)
|
rs142422341
|
0.00019
|
|
NM_000392.5(ABCC2):c.1950G>A (p.Ser650=)
|
rs138673546
|
0.00019
|
|
NM_000392.5(ABCC2):c.2499T>C (p.Val833=)
|
rs75148532
|
0.00019
|
|
NM_000414.4(HSD17B4):c.1311C>T (p.Ser437=)
|
rs369449821
|
0.00019
|
|
NM_000426.4(LAMA2):c.2325C>A (p.Asn775Lys)
|
rs139351727
|
0.00019
|
|
NM_000435.3(NOTCH3):c.2738C>T (p.Pro913Leu)
|
rs370422650
|
0.00019
|
|
NM_000443.4(ABCB4):c.3111T>C (p.Asn1037=)
|
rs8187808
|
0.00019
|
|
NM_000458.4(HNF1B):c.1668C>A (p.Ala556=)
|
rs144354798
|
0.00019
|
|
NM_000465.4(BARD1):c.308G>A (p.Ser103Asn)
|
rs145629242
|
0.00019
|
|
NM_000484.4(APP):c.982C>T (p.Arg328Trp)
|
rs200978018
|
0.00019
|
|
NM_000520.6(HEXA):c.1216C>T (p.Leu406=)
|
rs140482769
|
0.00019
|
|
NM_000520.6(HEXA):c.1421+14G>C
|
rs201497629
|
0.00019
|
|
NM_000535.7(PMS2):c.1243G>A (p.Val415Met)
|
rs138387687
|
0.00019
|
|
NM_000538.4(RFXAP):c.77C>G (p.Pro26Arg)
|
rs763162669
|
0.00019
|
|
NM_000540.3(RYR1):c.11034+15G>A
|
rs552725260
|
0.00019
|
|
NM_000540.3(RYR1):c.1123-11C>T
|
rs3745845
|
0.00019
|
|
NM_000540.3(RYR1):c.2160C>G (p.Leu720=)
|
rs200914778
|
0.00019
|
|
NM_000540.3(RYR1):c.2679C>G (p.Gly893=)
|
rs765657226
|
0.00019
|
|
NM_000540.3(RYR1):c.2933C>T (p.Pro978Leu)
|
rs200124278
|
0.00019
|
|
NM_000540.3(RYR1):c.7141G>A (p.Glu2381Lys)
|
rs148426762
|
0.00019
|
|
NM_000540.3(RYR1):c.8733C>A (p.Leu2911=)
|
rs200427576
|
0.00019
|
|
NM_000540.3(RYR1):c.89A>T (p.Glu30Val)
|
rs145771708
|
0.00019
|
|
NM_000540.3(RYR1):c.9886C>G (p.Leu3296Val)
|
rs368433841
|
0.00019
|
|
NM_000540.3(RYR1):c.9896G>T (p.Gly3299Val)
|
rs376790408
|
0.00019
|
|
NM_000541.5(SAG):c.1167T>A (p.Asp389Glu)
|
rs199798289
|
0.00019
|
|
NM_000546.6(TP53):c.1079G>C (p.Gly360Ala)
|
rs35993958
|
0.00019
|
|
NM_000548.5(TSC2):c.2295C>T (p.Ala765=)
|
rs45509500
|
0.00019
|
|
NM_000552.5(VWF):c.1519A>G (p.Arg507Gly)
|
rs189409574
|
0.00019
|
|
NM_000628.5(IL10RB):c.215C>T (p.Thr72Met)
|
rs148466782
|
0.00019
|
|
NM_000702.4(ATP1A2):c.1666A>T (p.Asn556Tyr)
|
rs141467566
|
0.00019
|
|
NM_000709.4(BCKDHA):c.843C>T (p.Gly281=)
|
rs371343548
|
0.00019
|
|
NM_000719.7(CACNA1C):c.2391G>A (p.Gly797=)
|
rs374857905
|
0.00019
|
|
NM_000784.4(CYP27A1):c.1434C>T (p.Gly478=)
|
rs139279260
|
0.00019
|
|
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=)
|
rs143600636
|
0.00019
|
|
NM_001005373.4(LRSAM1):c.1515G>A (p.Ser505=)
|
rs140066362
|
0.00019
|
|
NM_001009944.3(PKD1):c.1117C>G (p.Leu373Val)
|
rs765067070
|
0.00019
|
|
NM_001009944.3(PKD1):c.7430G>A (p.Arg2477His)
|
rs556618384
|
0.00019
|
|
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser)
|
rs200303151
|
0.00019
|
|
NM_001035.3(RYR2):c.1006-12C>T
|
rs367998175
|
0.00019
|
|
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His)
|
rs201312753
|
0.00019
|
|
NM_001036.6(RYR3):c.9830+5G>A
|
rs373984848
|
0.00019
|
|
NM_001040716.2(PC):c.1266C>T (p.Tyr422=)
|
rs141324828
|
0.00019
|
|
NM_001040716.2(PC):c.89G>A (p.Arg30Gln)
|
rs199616332
|
0.00019
|
|
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=)
|
rs144091165
|
0.00019
|
|
NM_001042517.2(DIAPH3):c.1291A>G (p.Thr431Ala)
|
rs746390263
|
0.00019
|
|
NM_001042545.2(LTBP4):c.2239G>A (p.Gly747Ser)
|
rs371314855
|
0.00019
|
|
NM_001048174.2(MUTYH):c.1219C>T (p.His407Tyr)
|
rs141432759
|
0.00019
|
|
NM_001080.3(ALDH5A1):c.831G>A (p.Val277=)
|
rs138912422
|
0.00019
|
|
NM_001081.4(CUBN):c.5926+5G>A
|
rs143301088
|
0.00019
|
|
NM_001083614.2(EARS2):c.280A>G (p.Met94Val)
|
rs200139797
|
0.00019
|
|
NM_001101426.4(CRPPA):c.531C>T (p.His177=)
|
rs376195897
|
0.00019
|
|
NM_001101426.4(CRPPA):c.876A>G (p.Glu292=)
|
rs371300262
|
0.00019
|
|
NM_001105206.3(LAMA4):c.668G>A (p.Arg223His)
|
rs200017155
|
0.00019
|
|
NM_001110556.2(FLNA):c.3285C>T (p.Ala1095=)
|
rs199530601
|
0.00019
|
|
NM_001110792.2(MECP2):c.1224C>T (p.Ser408=)
|
rs781816931
|
0.00019
|
|
NM_001111125.3(IQSEC2):c.3735C>T (p.His1245=)
|
rs797045630
|
0.00019
|
|
NM_001113378.2(FANCI):c.1963G>A (p.Gly655Arg)
|
rs138026584
|
0.00019
|
|
NM_001126108.2(SLC12A3):c.81C>G (p.Ser27Arg)
|
rs201850644
|
0.00019
|
|
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=)
|
rs371112962
|
0.00019
|
|
NM_001128840.3(CACNA1D):c.3821C>T (p.Ser1274Phe)
|
rs200382504
|
0.00019
|
|
NM_001130438.3(SPTAN1):c.5106G>A (p.Leu1702=)
|
rs373491498
|
0.00019
|
|
NM_001130438.3(SPTAN1):c.7396G>A (p.Asp2466Asn)
|
rs367776636
|
0.00019
|
|
NM_001130987.2(DYSF):c.316C>T (p.Leu106=)
|
rs374934430
|
0.00019
|
|
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)
|
rs115407852
|
0.00019
|
|
NM_001142800.2(EYS):c.2309A>C (p.Gln770Pro)
|
rs398123574
|
0.00019
|
|
NM_001148.6(ANK2):c.4310C>T (p.Thr1437Met)
|
rs142534126
|
0.00019
|
|
NM_001148.6(ANK2):c.7265G>A (p.Ser2422Asn)
|
rs140341680
|
0.00019
|
|
NM_001148.6(ANK2):c.8463C>A (p.Asp2821Glu)
|
rs780668435
|
0.00019
|
|
NM_001161352.2(KCNMA1):c.2946C>T (p.Ser982=)
|
rs74699271
|
0.00019
|
|
NM_001164508.2(NEB):c.18410C>T (p.Thr6137Met)
|
rs201462794
|
0.00019
|
|
NM_001164508.2(NEB):c.4149C>T (p.Thr1383=)
|
rs148794372
|
0.00019
|
|
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile)
|
rs146878122
|
0.00019
|
|
NM_001165963.4(SCN1A):c.694+10A>G
|
rs373417440
|
0.00019
|
|
NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu)
|
rs553367989
|
0.00019
|
|
NM_001182.5(ALDH7A1):c.1276A>G (p.Thr426Ala)
|
rs150305320
|
0.00019
|
|
NM_001194998.2(CEP152):c.4T>A (p.Ser2Thr)
|
rs374200686
|
0.00019
|
|
NM_001206744.2(TPO):c.9G>A (p.Ala3=)
|
rs61758084
|
0.00019
|
|
NM_001206999.2(CIT):c.232C>T (p.Arg78Trp)
|
rs186505065
|
0.00019
|
|
NM_001242896.3(DEPDC5):c.4391C>T (p.Thr1464Met)
|
rs556147064
|
0.00019
|
|
NM_001243133.2(NLRP3):c.674C>T (p.Ala225Val)
|
rs180177493
|
0.00019
|
|
NM_001243177.4(ALDOA):c.668A>G (p.Asn223Ser)
|
rs142957871
|
0.00019
|
|
NM_001244008.2(KIF1A):c.882+8G>A
|
rs376552408
|
0.00019
|
|
NM_001247997.2(CLIP1):c.2338C>T (p.Arg780Trp)
|
rs3741447
|
0.00019
|
|
NM_001256789.3(CACNA1F):c.3236+3G>A
|
rs199932603
|
0.00019
|
|
NM_001261826.3(AP3D1):c.2254A>G (p.Lys752Glu)
|
rs201042393
|
0.00019
|
|
NM_001267550.2(TTN):c.100295G>A (p.Arg33432His)
|
rs374876608
|
0.00019
|
|
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln)
|
rs368321767
|
0.00019
|
|
NM_001267550.2(TTN):c.101262A>G (p.Gly33754=)
|
rs374878689
|
0.00019
|
|
NM_001267550.2(TTN):c.105128G>A (p.Arg35043His)
|
rs370137295
|
0.00019
|
|
NM_001267550.2(TTN):c.105920T>C (p.Val35307Ala)
|
rs780629996
|
0.00019
|
|
NM_001267550.2(TTN):c.14424G>C (p.Val4808=)
|
rs374479775
|
0.00019
|
|
NM_001267550.2(TTN):c.14486A>C (p.Gln4829Pro)
|
rs375177753
|
0.00019
|
|
NM_001267550.2(TTN):c.17871A>T (p.Gln5957His)
|
rs181067357
|
0.00019
|
|
NM_001267550.2(TTN):c.23455G>C (p.Glu7819Gln)
|
rs201420077
|
0.00019
|
|
NM_001267550.2(TTN):c.3069C>T (p.Thr1023=)
|
rs371447978
|
0.00019
|
|
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met)
|
rs72647868
|
0.00019
|
|
NM_001267550.2(TTN):c.3170T>C (p.Val1057Ala)
|
rs145940356
|
0.00019
|
|
NM_001267550.2(TTN):c.33856G>A (p.Glu11286Lys)
|
rs376874956
|
0.00019
|
|
NM_001267550.2(TTN):c.39548-8A>G
|
rs369594816
|
0.00019
|
|
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu)
|
rs368820294
|
0.00019
|
|
NM_001267550.2(TTN):c.55379C>T (p.Thr18460Ile)
|
rs372778818
|
0.00019
|
|
NM_001267550.2(TTN):c.5645G>A (p.Arg1882His)
|
rs374605213
|
0.00019
|
|
NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile)
|
rs377682563
|
0.00019
|
|
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys)
|
rs200797552
|
0.00019
|
|
NM_001267550.2(TTN):c.78064G>A (p.Val26022Ile)
|
rs374764110
|
0.00019
|
|
NM_001267550.2(TTN):c.78914C>G (p.Ser26305Cys)
|
rs199646089
|
0.00019
|
|
NM_001267550.2(TTN):c.7957T>C (p.Leu2653=)
|
rs201837864
|
0.00019
|
|
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile)
|
rs374620001
|
0.00019
|
|
NM_001267550.2(TTN):c.86723A>G (p.Asn28908Ser)
|
rs377612718
|
0.00019
|
|
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys)
|
rs200503016
|
0.00019
|
|
NM_001267550.2(TTN):c.9338G>A (p.Arg3113His)
|
rs141258018
|
0.00019
|
|
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=)
|
rs376539252
|
0.00019
|
|
NM_001267550.2(TTN):c.98385T>G (p.Ser32795Arg)
|
rs373396567
|
0.00019
|
|
NM_001267550.2(TTN):c.99560A>C (p.Lys33187Thr)
|
rs560306385
|
0.00019
|
|
NM_001277115.2(DNAH11):c.9966A>G (p.Gln3322=)
|
rs201050208
|
0.00019
|
|
NM_001283009.2(RTEL1):c.1349-9G>A
|
rs772899702
|
0.00019
|
|
NM_001283009.2(RTEL1):c.3203G>A (p.Arg1068His)
|
rs137914057
|
0.00019
|
|
NM_001287.6(CLCN7):c.558C>T (p.Phe186=)
|
rs147280414
|
0.00019
|
|
NM_001292063.2(OTOG):c.1184A>C (p.Gln395Pro)
|
rs876657936
|
0.00019
|
|
NM_001330078.2(NRXN1):c.3129A>G (p.Val1043=)
|
rs200698497
|
0.00019
|
|
NM_001346754.2(PIGW):c.533C>G (p.Ser178Cys)
|
rs368008171
|
0.00019
|
|
NM_001352754.2(ARMC9):c.1964C>T (p.Thr655Ile)
|
rs202164814
|
0.00019
|
|
NM_001360.3(DHCR7):c.729C>T (p.Pro243=)
|
rs145284180
|
0.00019
|
|
NM_001360.3(DHCR7):c.99-5C>T
|
rs372886043
|
0.00019
|
|
NM_001360016.2(G6PD):c.864+17A>T
|
rs377041776
|
0.00019
|
|
NM_001365088.1(SLC12A6):c.1417A>G (p.Asn473Asp)
|
rs370477960
|
0.00019
|
|
NM_001365276.2(TNXB):c.9121A>G (p.Lys3041Glu)
|
rs376639281
|
0.00019
|
|
NM_001365276.2(TNXB):c.9661G>A (p.Val3221Met)
|
rs367685759
|
0.00019
|
|
NM_001365536.1(SCN9A):c.129T>C (p.Asp43=)
|
rs200826539
|
0.00019
|
|
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys)
|
rs200945460
|
0.00019
|
|
NM_001365536.1(SCN9A):c.4110T>C (p.Cys1370=)
|
rs199673396
|
0.00019
|
|
NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=)
|
rs187558439
|
0.00019
|
|
NM_001365999.1(SZT2):c.4647C>T (p.Gly1549=)
|
rs149192929
|
0.00019
|
|
NM_001367624.2(ZNF469):c.5449C>G (p.Leu1817Val)
|
rs559099409
|
0.00019
|
|
NM_001367624.2(ZNF469):c.5675G>A (p.Arg1892Lys)
|
rs528085780
|
0.00019
|
|
NM_001367624.2(ZNF469):c.5914G>A (p.Gly1972Arg)
|
rs766410344
|
0.00019
|
|
NM_001367624.2(ZNF469):c.9214G>A (p.Gly3072Ser)
|
rs557364171
|
0.00019
|
|
NM_001369.3(DNAH5):c.6230T>C (p.Phe2077Ser)
|
rs141196027
|
0.00019
|
|
NM_001369.3(DNAH5):c.8999G>A (p.Arg3000Gln)
|
rs137949961
|
0.00019
|
|
NM_001374828.1(ARID1B):c.1229G>C (p.Gly410Ala)
|
rs1455234951
|
0.00019
|
|
NM_001377.3(DYNC2H1):c.366+10G>A
|
rs200257097
|
0.00019
|
|
NM_001378183.1(PIEZO2):c.1240-5G>A
|
rs373971761
|
0.00019
|
|
NM_001378183.1(PIEZO2):c.5897G>A (p.Arg1966His)
|
rs373973800
|
0.00019
|
|
NM_001378183.1(PIEZO2):c.947C>A (p.Thr316Lys)
|
rs374993280
|
0.00019
|
|
NM_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr)
|
rs373694009
|
0.00019
|
|
NM_001378454.1(ALMS1):c.11411G>C (p.Arg3804Thr)
|
rs201028172
|
0.00019
|
|
NM_001378454.1(ALMS1):c.4049A>G (p.His1350Arg)
|
rs373366352
|
0.00019
|
|
NM_001378454.1(ALMS1):c.5297A>G (p.Asn1766Ser)
|
rs192863498
|
0.00019
|
|
NM_001378454.1(ALMS1):c.6637G>T (p.Asp2213Tyr)
|
rs367656336
|
0.00019
|
|
NM_001378609.3(OTOGL):c.1823G>A (p.Ser608Asn)
|
rs202156673
|
0.00019
|
|
NM_001378609.3(OTOGL):c.3786C>G (p.Phe1262Leu)
|
rs199807709
|
0.00019
|
|
NM_001384140.1(PCDH15):c.4672-1564T>C
|
rs193186244
|
0.00019
|
|
NM_001384732.1(CPLANE1):c.221C>T (p.Ala74Val)
|
rs139496915
|
0.00019
|
|
NM_001384732.1(CPLANE1):c.7883A>T (p.Glu2628Val)
|
rs200930248
|
0.00019
|
|
NM_001457.4(FLNB):c.2644G>C (p.Val882Leu)
|
rs139124254
|
0.00019
|
|
NM_001458.5(FLNC):c.1924G>A (p.Val642Ile)
|
rs369387744
|
0.00019
|
|
NM_001458.5(FLNC):c.2296C>T (p.Arg766Trp)
|
rs200215340
|
0.00019
|
|
NM_001458.5(FLNC):c.3938G>A (p.Arg1313Gln)
|
rs199804244
|
0.00019
|
|
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro)
|
rs367662394
|
0.00019
|
|
NM_001614.5(ACTG1):c.803-3T>C
|
rs369438865
|
0.00019
|
|
NM_001692.4(ATP6V1B1):c.1332C>T (p.Leu444=)
|
rs372223196
|
0.00019
|
|
NM_001710.6(CFB):c.1407C>G (p.Ile469Met)
|
rs201798809
|
0.00019
|
|
NM_001710.6(CFB):c.221G>A (p.Arg74His)
|
rs117314762
|
0.00019
|
|
NM_001750.7(CAST):c.986C>G (p.Ala329Gly)
|
rs200169373
|
0.00019
|
|
NM_001793.6(CDH3):c.918C>T (p.Asp306=)
|
rs201521473
|
0.00019
|
|
NM_001844.5(COL2A1):c.4289C>T (p.Thr1430Met)
|
rs147559634
|
0.00019
|
|
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)
|
rs142770543
|
0.00019
|
|
NM_001849.4(COL6A2):c.2961G>A (p.Thr987=)
|
rs149845431
|
0.00019
|
|
NM_001853.4(COL9A3):c.481C>T (p.His161Tyr)
|
rs150207068
|
0.00019
|
|
NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn)
|
rs143206624
|
0.00019
|
|
NM_001927.4(DES):c.635G>A (p.Arg212Gln)
|
rs144261171
|
0.00019
|
|
NM_001966.4(EHHADH):c.77C>T (p.Thr26Met)
|
rs138013408
|
0.00019
|
|
NM_002206.3(ITGA7):c.1317C>T (p.Phe439=)
|
rs200714716
|
0.00019
|
|
NM_002230.4(JUP):c.2069A>G (p.Asn690Ser)
|
rs147628503
|
0.00019
|
|
NM_002234.4(KCNA5):c.898G>A (p.Gly300Ser)
|
rs148708451
|
0.00019
|
|
NM_002408.4(MGAT2):c.63C>T (p.Gly21=)
|
rs146729850
|
0.00019
|
|
NM_002471.4(MYH6):c.824T>A (p.Ile275Asn)
|
rs201327273
|
0.00019
|
|
NM_002485.5(NBN):c.37+6G>A
|
rs540868733
|
0.00019
|
|
NM_002609.4(PDGFRB):c.2466C>T (p.Cys822=)
|
rs55830572
|
0.00019
|
|
NM_002691.4(POLD1):c.2007-5C>T
|
rs199506387
|
0.00019
|
|
NM_002778.4(PSAP):c.1476T>C (p.Thr492=)
|
rs139178900
|
0.00019
|
|
NM_002900.3(RBP3):c.1840G>A (p.Asp614Asn)
|
rs149642039
|
0.00019
|
|
NM_002907.4(RECQL):c.518T>A (p.Val173Asp)
|
rs144313838
|
0.00019
|
|
NM_002972.4(SBF1):c.1637-5C>T
|
rs377462059
|
0.00019
|
|
NM_003072.5(SMARCA4):c.1076G>A (p.Arg359Gln)
|
rs148530368
|
0.00019
|
|
NM_003282.4(TNNI2):c.61G>A (p.Val21Met)
|
rs200110633
|
0.00019
|
|
NM_003465.3(CHIT1):c.508G>T (p.Ala170Ser)
|
rs151004649
|
0.00019
|
|
NM_003480.4(MFAP5):c.442C>T (p.Pro148Ser)
|
rs148770543
|
0.00019
|
|
NM_003482.4(KMT2D):c.2214C>T (p.Ser738=)
|
rs201219613
|
0.00019
|
|
NM_003560.4(PLA2G6):c.441G>A (p.Ala147=)
|
rs371920697
|
0.00019
|
|
NM_003737.4(DCHS1):c.4553G>A (p.Arg1518Gln)
|
rs753287108
|
0.00019
|
|
NM_003737.4(DCHS1):c.7846C>G (p.Pro2616Ala)
|
rs150354113
|
0.00019
|
|
NM_003737.4(DCHS1):c.8302C>T (p.Arg2768Cys)
|
rs368211314
|
0.00019
|
|
NM_003748.4(ALDH4A1):c.150G>A (p.Leu50=)
|
rs201605414
|
0.00019
|
|
NM_004006.3(DMD):c.2166A>G (p.Lys722=)
|
rs147580966
|
0.00019
|
|
NM_004006.3(DMD):c.3379C>G (p.Leu1127Val)
|
rs141887693
|
0.00019
|
|
NM_004006.3(DMD):c.4072-3T>C
|
rs751657094
|
0.00019
|
|
NM_004006.3(DMD):c.6471T>A (p.Thr2157=)
|
rs377080659
|
0.00019
|
|
NM_004035.7(ACOX1):c.574C>A (p.Gln192Lys)
|
rs200833797
|
0.00019
|
|
NM_004086.3(COCH):c.198A>T (p.Val66=)
|
rs28400029
|
0.00019
|
|
NM_004174.4(SLC9A3):c.755-11C>T
|
rs139270058
|
0.00019
|
|
NM_004187.5(KDM5C):c.536G>A (p.Arg179His)
|
rs201805773
|
0.00019
|
|
NM_004369.4(COL6A3):c.3556G>A (p.Val1186Met)
|
rs144976132
|
0.00019
|
|
NM_004369.4(COL6A3):c.4146G>A (p.Ser1382=)
|
rs114791158
|
0.00019
|
|
NM_004369.4(COL6A3):c.9444C>T (p.Asn3148=)
|
rs144291325
|
0.00019
|
|
NM_004371.4(COPA):c.2234G>A (p.Arg745His)
|
rs138441444
|
0.00019
|
|
NM_004415.4(DSP):c.1344G>A (p.Leu448=)
|
rs138226280
|
0.00019
|
|
NM_004415.4(DSP):c.6010G>T (p.Val2004Phe)
|
rs764692193
|
0.00019
|
|
NM_004447.6(EPS8):c.2195C>T (p.Thr732Met)
|
rs141592108
|
0.00019
|
|
NM_004453.4(ETFDH):c.1048C>T (p.Arg350Trp)
|
rs375172942
|
0.00019
|
|
NM_004482.4(GALNT3):c.51T>C (p.His17=)
|
rs149612790
|
0.00019
|
|
NM_004525.3(LRP2):c.11478G>A (p.Ala3826=)
|
rs150464677
|
0.00019
|
|
NM_004525.3(LRP2):c.12958A>G (p.Ile4320Val)
|
rs141452561
|
0.00019
|
|
NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser)
|
rs117134265
|
0.00019
|
|
NM_004560.4(ROR2):c.568A>G (p.Thr190Ala)
|
rs34574788
|
0.00019
|
|
NM_004612.4(TGFBR1):c.207C>T (p.Ser69=)
|
rs145033378
|
0.00019
|
|
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu)
|
rs111513627
|
0.00019
|
|
NM_004621.6(TRPC6):c.75C>T (p.Arg25=)
|
rs201051533
|
0.00019
|
|
NM_004646.4(NPHS1):c.766C>T (p.Arg256Trp)
|
rs386833960
|
0.00019
|
|
NM_004698.4(PRPF3):c.501A>G (p.Thr167=)
|
rs146995242
|
0.00019
|
|
NM_004793.4(LONP1):c.1925C>T (p.Thr642Met)
|
rs371606894
|
0.00019
|
|
NM_004817.4(TJP2):c.2384C>T (p.Pro795Leu)
|
rs139867659
|
0.00019
|
|
NM_004817.4(TJP2):c.3150G>A (p.Leu1050=)
|
rs141675065
|
0.00019
|
|
NM_004937.3(CTNS):c.123C>T (p.Asn41=)
|
rs148084080
|
0.00019
|
|
NM_004977.3(KCNC3):c.1429G>A (p.Asp477Asn)
|
rs148033381
|
0.00019
|
|
NM_004985.5(KRAS):c.451-5535A>C
|
rs201170656
|
0.00019
|
|
NM_005006.7(NDUFS1):c.738-20A>G
|
rs200128097
|
0.00019
|
|
NM_005045.4(RELN):c.4260G>A (p.Gly1420=)
|
rs150518726
|
0.00019
|
|
NM_005045.4(RELN):c.8798C>T (p.Thr2933Ile)
|
rs201656873
|
0.00019
|
|
NM_005055.5(RAPSN):c.1203C>T (p.Asn401=)
|
rs757215612
|
0.00019
|
|
NM_005188.4(CBL):c.2588A>G (p.Asn863Ser)
|
rs146250423
|
0.00019
|
|
NM_005199.5(CHRNG):c.439C>T (p.Arg147Cys)
|
rs754928609
|
0.00019
|
|
NM_005228.5(EGFR):c.1557G>T (p.Glu519Asp)
|
rs116057045
|
0.00019
|
|
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr)
|
rs138272051
|
0.00019
|
|
NM_005529.7(HSPG2):c.11482G>A (p.Glu3828Lys)
|
rs200997062
|
0.00019
|
|
NM_005529.7(HSPG2):c.8554G>A (p.Gly2852Arg)
|
rs199942544
|
0.00019
|
|
NM_005548.3(KARS1):c.482+8G>A
|
rs377697859
|
0.00019
|
|
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val)
|
rs200786705
|
0.00019
|
|
NM_005633.4(SOS1):c.233T>G (p.Phe78Cys)
|
rs201352584
|
0.00019
|
|
NM_005984.5(SLC25A1):c.94+6C>T
|
rs1297863542
|
0.00019
|
|
NM_006005.3(WFS1):c.1235T>C (p.Val412Ala)
|
rs144951440
|
0.00019
|
|
NM_006005.3(WFS1):c.1695C>T (p.Leu565=)
|
rs755736687
|
0.00019
|
|
NM_006019.4(TCIRG1):c.1615G>A (p.Val539Ile)
|
rs142539969
|
0.00019
|
|
NM_006031.6(PCNT):c.7297T>C (p.Ser2433Pro)
|
rs113536916
|
0.00019
|
|
NM_006129.5(BMP1):c.239G>A (p.Arg80His)
|
rs73549580
|
0.00019
|
|
NM_006261.5(PROP1):c.96G>A (p.Pro32=)
|
rs144314831
|
0.00019
|
|
NM_006393.3(NEBL):c.369+5G>A
|
rs200249470
|
0.00019
|
|
NM_006514.4(SCN10A):c.1118A>G (p.Tyr373Cys)
|
rs147835034
|
0.00019
|
|
NM_006662.3(SRCAP):c.2648C>G (p.Ala883Gly)
|
rs139524110
|
0.00019
|
|
NM_006790.3(MYOT):c.323A>C (p.Asn108Thr)
|
rs142416150
|
0.00019
|
|
NM_006922.4(SCN3A):c.363T>C (p.Ala121=)
|
rs145171998
|
0.00019
|
|
NM_006947.4(SRP72):c.1294G>A (p.Ala432Thr)
|
rs201102960
|
0.00019
|
|
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)
|
rs139366548
|
0.00019
|
|
NM_007294.4(BRCA1):c.1789G>A (p.Glu597Lys)
|
rs55650082
|
0.00019
|
|
NM_007294.4(BRCA1):c.4484+14A>G
|
rs80358022
|
0.00019
|
|
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser)
|
rs80357087
|
0.00019
|
|
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg)
|
rs80357436
|
0.00019
|
|
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu)
|
rs121908603
|
0.00019
|
|
NM_012156.2(EPB41L1):c.1893C>T (p.Ser631=)
|
rs142447348
|
0.00019
|
|
NM_012213.3(MLYCD):c.641+11C>T
|
rs200841672
|
0.00019
|
|
NM_012254.3(SLC27A5):c.2070C>G (p.Leu690=)
|
rs184994408
|
0.00019
|
|
NM_012330.4(KAT6B):c.1512C>A (p.Ser504Arg)
|
rs769903041
|
0.00019
|
|
NM_012472.6(DNAAF11):c.178+13A>G
|
rs200580615
|
0.00019
|
|
NM_014000.3(VCL):c.2427C>T (p.Ser809=)
|
rs183739128
|
0.00019
|
|
NM_014000.3(VCL):c.590C>T (p.Thr197Ile)
|
rs189242810
|
0.00019
|
|
NM_014003.4(DHX38):c.2011-3C>A
|
rs368562010
|
0.00019
|
|
NM_014141.6(CNTNAP2):c.561T>C (p.Val187=)
|
rs201200400
|
0.00019
|
|
NM_014141.6(CNTNAP2):c.837G>A (p.Val279=)
|
rs143507886
|
0.00019
|
|
NM_014244.5(ADAMTS2):c.1149C>T (p.Thr383=)
|
rs199664723
|
0.00019
|
|
NM_014297.5(ETHE1):c.184G>A (p.Ala62Thr)
|
rs138958351
|
0.00019
|
|
NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser)
|
rs201558584
|
0.00019
|
|
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys)
|
rs61754478
|
0.00019
|
|
NM_014363.6(SACS):c.7647T>G (p.Leu2549=)
|
rs186301471
|
0.00019
|
|
NM_014363.6(SACS):c.99T>C (p.Asp33=)
|
rs775206528
|
0.00019
|
|
NM_014391.3(ANKRD1):c.449A>T (p.Asp150Val)
|
rs150266349
|
0.00019
|
|
NM_014639.4(SKIC3):c.1446T>C (p.Phe482=)
|
rs142880784
|
0.00019
|
|
NM_014704.4(CEP104):c.2182A>G (p.Asn728Asp)
|
rs144805659
|
0.00019
|
|
NM_014714.4(IFT140):c.2787G>A (p.Thr929=)
|
rs374661866
|
0.00019
|
|
NM_014714.4(IFT140):c.4381G>A (p.Asp1461Asn)
|
rs201065562
|
0.00019
|
|
NM_014874.4(MFN2):c.749G>A (p.Arg250Gln)
|
rs140234726
|
0.00019
|
|
NM_015046.7(SETX):c.968G>A (p.Ser323Asn)
|
rs372193033
|
0.00019
|
|
NM_015087.5(SPART):c.1414G>T (p.Ala472Ser)
|
rs142482393
|
0.00019
|
|
NM_015148.4(PASK):c.2165T>C (p.Leu722Pro)
|
rs201982321
|
0.00019
|
|
NM_015158.5(KANK1):c.3772G>T (p.Ala1258Ser)
|
rs113362230
|
0.00019
|
|
NM_015330.6(SPECC1L):c.2440G>A (p.Val814Ile)
|
rs139167350
|
0.00019
|
|
NM_015404.4(WHRN):c.2354C>T (p.Thr785Ile)
|
rs201555289
|
0.00019
|
|
NM_015426.5(POC1A):c.784C>T (p.Arg262Trp)
|
rs146976547
|
0.00019
|
|
NM_015450.3(POT1):c.64A>G (p.Ile22Val)
|
rs375440229
|
0.00019
|
|
NM_015559.3(SETBP1):c.4307C>T (p.Ala1436Val)
|
rs373986368
|
0.00019
|
|
NM_015662.3(IFT172):c.4147G>A (p.Glu1383Lys)
|
rs147668131
|
0.00019
|
|
NM_017433.5(MYO3A):c.3730T>C (p.Tyr1244His)
|
rs148993025
|
0.00019
|
|
NM_017534.6(MYH2):c.4304T>C (p.Met1435Thr)
|
rs139691540
|
0.00019
|
|
NM_017617.5(NOTCH1):c.383G>A (p.Arg128His)
|
rs754086897
|
0.00019
|
|
NM_017636.4(TRPM4):c.1082T>G (p.Leu361Arg)
|
rs148763371
|
0.00019
|
|
NM_017668.3(NDE1):c.948-5740C>T
|
rs373378619
|
0.00019
|
|
NM_017777.4(MKS1):c.1176G>A (p.Pro392=)
|
rs775169308
|
0.00019
|
|
NM_017777.4(MKS1):c.1408-3C>T
|
rs377033273
|
0.00019
|
|
NM_017780.4(CHD7):c.8190G>A (p.Ala2730=)
|
rs371898908
|
0.00019
|
|
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val)
|
rs376934539
|
0.00019
|
|
NM_018100.4(EFHC1):c.661C>T (p.Arg221Cys)
|
rs139197513
|
0.00019
|
|
NM_018136.5(ASPM):c.5224T>C (p.Tyr1742His)
|
rs143733126
|
0.00019
|
|
NM_018685.5(ANLN):c.752G>A (p.Ser251Asn)
|
rs372980930
|
0.00019
|
|
NM_018713.3(SLC30A10):c.269C>T (p.Thr90Ile)
|
rs554675480
|
0.00019
|
|
NM_018943.3(TUBA8):c.958C>T (p.Arg320Trp)
|
rs140202346
|
0.00019
|
|
NM_019066.5(MAGEL2):c.434C>T (p.Pro145Leu)
|
rs372352945
|
0.00019
|
|
NM_019098.5(CNGB3):c.2410A>T (p.Lys804Ter)
|
rs151039691
|
0.00019
|
|
NM_020461.4(TUBGCP6):c.655G>T (p.Val219Leu)
|
rs137934849
|
0.00019
|
|
NM_020533.3(MCOLN1):c.60C>T (p.Pro20=)
|
rs202247664
|
0.00019
|
|
NM_020778.5(ALPK3):c.1691C>T (p.Ser564Leu)
|
rs200540710
|
0.00019
|
|
NM_020812.4(DOCK6):c.5832+5G>A
|
rs181867999
|
0.00019
|
|
NM_020822.3(KCNT1):c.474G>A (p.Ser158=)
|
rs139076605
|
0.00019
|
|
NM_020921.4(NIN):c.1991C>T (p.Thr664Ile)
|
rs147946706
|
0.00019
|
|
NM_020964.3(EPG5):c.5631T>C (p.Leu1877=)
|
rs376297358
|
0.00019
|
|
NM_020975.6(RET):c.1529C>T (p.Ala510Val)
|
rs201745826
|
0.00019
|
|
NM_020987.5(ANK3):c.4085G>C (p.Gly1362Ala)
|
rs200556767
|
0.00019
|
|
NM_022041.4(GAN):c.283-14T>C
|
rs369700456
|
0.00019
|
|
NM_022098.4(XPNPEP3):c.597G>A (p.Thr199=)
|
rs151167805
|
0.00019
|
|
NM_022124.6(CDH23):c.3486G>C (p.Gly1162=)
|
rs397517324
|
0.00019
|
|
NM_022455.5(NSD1):c.6464-5T>C
|
rs545039997
|
0.00019
|
|
NM_022455.5(NSD1):c.6464-8G>T
|
rs577262396
|
0.00019
|
|
NM_022464.5(SIL1):c.192C>T (p.Ala64=)
|
rs148651377
|
0.00019
|
|
NM_022489.4(INF2):c.3103G>A (p.Gly1035Ser)
|
rs368995122
|
0.00019
|
|
NM_024009.3(GJB3):c.547G>A (p.Glu183Lys)
|
rs74315318
|
0.00019
|
|
NM_024105.4(ALG12):c.1152C>G (p.Pro384=)
|
rs375721419
|
0.00019
|
|
NM_024426.6(WT1):c.193G>A (p.Gly65Arg)
|
rs374404615
|
0.00019
|
|
NM_024747.6(HPS6):c.541A>G (p.Thr181Ala)
|
rs144257610
|
0.00019
|
|
NM_024753.5(TTC21B):c.2227G>A (p.Val743Ile)
|
rs183367929
|
0.00019
|
|
NM_024928.5(STN1):c.824A>G (p.Gln275Arg)
|
rs201076579
|
0.00019
|
|
NM_025099.6(CTC1):c.2895C>T (p.Ala965=)
|
rs373530008
|
0.00019
|
|
NM_025099.6(CTC1):c.597G>A (p.Thr199=)
|
rs373023392
|
0.00019
|
|
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp)
|
rs200969981
|
0.00019
|
|
NM_025137.4(SPG11):c.5796T>C (p.His1932=)
|
rs375350193
|
0.00019
|
|
NM_030787.4(CFHR5):c.880G>A (p.Glu294Lys)
|
rs201084185
|
0.00019
|
|
NM_032043.3(BRIP1):c.36G>T (p.Gly12=)
|
rs45566938
|
0.00019
|
|
NM_032043.3(BRIP1):c.380-5A>G
|
rs587782131
|
0.00019
|
|
NM_032043.3(BRIP1):c.628C>T (p.Pro210Ser)
|
rs150313156
|
0.00019
|
|
NM_032119.4(ADGRV1):c.10550-7C>T
|
rs191228562
|
0.00019
|
|
NM_032119.4(ADGRV1):c.10697T>C (p.Ile3566Thr)
|
rs201483312
|
0.00019
|
|
NM_032119.4(ADGRV1):c.2734+8A>G
|
rs371906040
|
0.00019
|
|
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe)
|
rs193030567
|
0.00019
|
|
NM_032119.4(ADGRV1):c.7867G>A (p.Glu2623Lys)
|
rs146526977
|
0.00019
|
|
NM_032242.4(PLXNA1):c.3368C>T (p.Pro1123Leu)
|
rs144485621
|
0.00019
|
|
NM_052945.4(TNFRSF13C):c.213G>A (p.Ala71=)
|
rs767759337
|
0.00019
|
|
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln)
|
rs138265409
|
0.00019
|
|
NM_080425.4(GNAS):c.678T>G (p.Phe226Leu)
|
rs201332059
|
0.00019
|
|
NM_080680.3(COL11A2):c.233-8G>T
|
rs375268140
|
0.00019
|
|
NM_130837.3(OPA1):c.2441-4dup
|
rs761286590
|
0.00019
|
|
NM_133259.4(LRPPRC):c.1929C>T (p.His643=)
|
rs200017171
|
0.00019
|
|
NM_133378.4(TTN):c.19928-7C>T
|
rs771244164
|
0.00019
|
|
NM_133433.4(NIPBL):c.2603G>A (p.Arg868Gln)
|
rs149629686
|
0.00019
|
|
NM_138413.4(HOGA1):c.554C>T (p.Thr185Met)
|
rs115282699
|
0.00019
|
|
NM_138694.4(PKHD1):c.8187C>A (p.Ala2729=)
|
rs149310653
|
0.00019
|
|
NM_144498.4(OSBPL2):c.833A>G (p.Lys278Arg)
|
rs199648498
|
0.00019
|
|
NM_144585.4(SLC22A12):c.1400C>T (p.Thr467Met)
|
rs200104135
|
0.00019
|
|
NM_144670.6(A2ML1):c.68A>G (p.Tyr23Cys)
|
rs750524549
|
0.00019
|
|
NM_144670.6(A2ML1):c.887T>C (p.Val296Ala)
|
rs192888493
|
0.00019
|
|
NM_144687.4(NLRP12):c.1054C>T (p.Arg352Cys)
|
rs199881207
|
0.00019
|
|
NM_144997.7(FLCN):c.592G>A (p.Asp198Asn)
|
rs200168437
|
0.00019
|
|
NM_147127.5(EVC2):c.2039T>C (p.Leu680Pro)
|
rs148407223
|
0.00019
|
|
NM_152263.4(TPM3):c.249G>A (p.Glu83=)
|
rs149765446
|
0.00019
|
|
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=)
|
rs147251143
|
0.00019
|
|
NM_152464.3(TMEM199):c.36G>A (p.Val12=)
|
rs781939580
|
0.00019
|
|
NM_152564.5(VPS13B):c.4225-6G>A
|
rs199755508
|
0.00019
|
|
NM_170699.3(GPBAR1):c.531C>T (p.Ala177=)
|
rs200360810
|
0.00019
|
|
NM_172201.2(KCNE2):c.153G>T (p.Leu51=)
|
rs143767851
|
0.00019
|
|
NM_174936.4(PCSK9):c.996+8del
|
rs768213924
|
0.00019
|
|
NM_175875.5(SIX5):c.1366C>T (p.Leu456Phe)
|
rs569540038
|
0.00019
|
|
NM_178170.3(NEK8):c.294C>G (p.Ser98=)
|
rs140255077
|
0.00019
|
|
NM_178452.6(DNAAF1):c.115T>C (p.Cys39Arg)
|
rs373512514
|
0.00019
|
|
NM_181303.2(NLGN3):c.20C>T (p.Pro7Leu)
|
rs199925687
|
0.00019
|
|
NM_182914.3(SYNE2):c.2477A>G (p.Asn826Ser)
|
rs372150492
|
0.00019
|
|
NM_182914.3(SYNE2):c.9315A>C (p.Leu3105Phe)
|
rs201466326
|
0.00019
|
|
NM_182961.4(SYNE1):c.16182T>G (p.Ser5394=)
|
rs146705789
|
0.00019
|
|
NM_182961.4(SYNE1):c.18480C>T (p.Asp6160=)
|
rs142251671
|
0.00019
|
|
NM_182961.4(SYNE1):c.24642+3A>G
|
rs117346210
|
0.00019
|
|
NM_194248.3(OTOF):c.2498A>T (p.Gln833Leu)
|
rs191568463
|
0.00019
|
|
NM_194248.3(OTOF):c.2848G>A (p.Val950Ile)
|
rs199613764
|
0.00019
|
|
NM_198129.4(LAMA3):c.5780C>T (p.Thr1927Ile)
|
rs146039146
|
0.00019
|
|
NM_198282.4(STING1):c.575G>T (p.Gly192Val)
|
rs201096097
|
0.00019
|
|
NM_199242.3(UNC13D):c.114G>A (p.Pro38=)
|
rs755103812
|
0.00019
|
|
NM_201253.3(CRB1):c.2462C>T (p.Thr821Met)
|
rs142857810
|
0.00019
|
|
NM_201384.3(PLEC):c.12216C>T (p.Phe4072=)
|
rs150427959
|
0.00019
|
|
NM_201384.3(PLEC):c.5633G>A (p.Arg1878Gln)
|
rs373617951
|
0.00019
|
|
NM_201384.3(PLEC):c.8316C>T (p.Arg2772=)
|
rs782420340
|
0.00019
|
|
NM_201384.3(PLEC):c.8644C>T (p.Leu2882=)
|
rs376081492
|
0.00019
|
|
NM_201384.3(PLEC):c.8742C>T (p.Phe2914=)
|
rs201211875
|
0.00019
|
|
NM_201596.3(CACNB2):c.1591C>T (p.Arg531Cys)
|
rs202152674
|
0.00019
|
|
NM_206933.4(USH2A):c.15374G>A (p.Arg5125His)
|
rs189729452
|
0.00019
|
|
NM_206933.4(USH2A):c.1539C>T (p.Thr513=)
|
rs199939890
|
0.00019
|
|
NM_206933.4(USH2A):c.5266G>A (p.Val1756Ile)
|
rs143208990
|
0.00019
|
|
NM_206933.4(USH2A):c.5608C>T (p.Arg1870Trp)
|
rs144768593
|
0.00019
|
|
NM_206933.4(USH2A):c.5619C>T (p.Val1873=)
|
rs138416665
|
0.00019
|
|
NM_206937.2(LIG4):c.712A>G (p.Ile238Val)
|
rs149012859
|
0.00019
|
|
NM_207346.3(TSEN54):c.1079C>T (p.Ala360Val)
|
rs368377822
|
0.00019
|
|
NM_000035.4(ALDOB):c.582T>C (p.Asp194=)
|
rs141988626
|
0.00018
|
|
NM_000038.6(APC):c.3374T>C (p.Val1125Ala)
|
rs377278397
|
0.00018
|
|
NM_000038.6(APC):c.4237A>G (p.Met1413Val)
|
rs141519952
|
0.00018
|
|
NM_000038.6(APC):c.5009C>T (p.Ala1670Val)
|
rs202228932
|
0.00018
|
|
NM_000038.6(APC):c.6637A>G (p.Met2213Val)
|
rs186926737
|
0.00018
|
|
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr)
|
rs555219189
|
0.00018
|
|
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg)
|
rs757549770
|
0.00018
|
|
NM_000057.4(BLM):c.807C>T (p.Ser269=)
|
rs147850738
|
0.00018
|
|
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val)
|
rs11571653
|
0.00018
|
|
NM_000059.4(BRCA2):c.7712A>G (p.Glu2571Gly)
|
rs55689095
|
0.00018
|
|
NM_000059.4(BRCA2):c.7976+23C>T
|
rs183623188
|
0.00018
|
|
NM_000070.3(CAPN3):c.1668C>T (p.Ile556=)
|
rs199884116
|
0.00018
|
|
NM_000081.4(LYST):c.595G>A (p.Asp199Asn)
|
rs552391792
|
0.00018
|
|
NM_000094.4(COL7A1):c.1495G>A (p.Val499Met)
|
rs201877942
|
0.00018
|
|
NM_000094.4(COL7A1):c.2146A>G (p.Arg716Gly)
|
rs143040168
|
0.00018
|
|
NM_000117.3(EMD):c.272A>G (p.Asn91Ser)
|
rs137977232
|
0.00018
|
|
NM_000130.5(F5):c.1297-13T>C
|
rs372389170
|
0.00018
|
|
NM_000132.4(F8):c.396A>C (p.Glu132Asp)
|
rs137852388
|
0.00018
|
|
NM_000138.5(FBN1):c.3590-8T>C
|
rs140600
|
0.00018
|
|
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr)
|
rs776625874
|
0.00018
|
|
NM_000138.5(FBN1):c.902G>T (p.Gly301Val)
|
rs142888621
|
0.00018
|
|
NM_000143.4(FH):c.883G>A (p.Ala295Thr)
|
rs145843819
|
0.00018
|
|
NM_000145.4(FSHR):c.312G>A (p.Lys104=)
|
rs147355964
|
0.00018
|
|
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln)
|
rs372799904
|
0.00018
|
|
NM_000158.4(GBE1):c.313+15G>A
|
rs184391304
|
0.00018
|
|
NM_000219.6(KCNE1):c.118G>A (p.Gly40Ser)
|
rs778439872
|
0.00018
|
|
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr)
|
rs63749910
|
0.00018
|
|
NM_000283.4(PDE6B):c.2548A>G (p.Thr850Ala)
|
rs141647790
|
0.00018
|
|
NM_000322.5(PRPH2):c.1015G>A (p.Ala339Thr)
|
rs760687443
|
0.00018
|
|
NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp)
|
rs61754402
|
0.00018
|
|
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)
|
rs45553235
|
0.00018
|
|
NM_000335.5(SCN5A):c.5901C>G (p.Ile1967Met)
|
rs199473333
|
0.00018
|
|
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp)
|
rs118203745
|
0.00018
|
|
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp)
|
rs200138397
|
0.00018
|
|
NM_000397.4(CYBB):c.1414G>A (p.Gly472Ser)
|
rs13306300
|
0.00018
|
|
NM_000399.5(EGR2):c.457A>C (p.Thr153Pro)
|
rs202183386
|
0.00018
|
|
NM_000447.3(PSEN2):c.166G>A (p.Gly56Ser)
|
rs188598190
|
0.00018
|
|
NM_000451.4(SHOX):c.577G>A (p.Ala193Thr)
|
rs376330042
|
0.00018
|
|
NM_000455.5(STK11):c.618G>A (p.Ala206=)
|
rs370976710
|
0.00018
|
|
NM_000463.3(UGT1A1):c.1352C>T (p.Pro451Leu)
|
rs114982090
|
0.00018
|
|
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His)
|
rs121909552
|
0.00018
|
|
NM_000492.4(CFTR):c.1209+28C>T
|
rs370653287
|
0.00018
|
|
NM_000515.5(GH1):c.546A>G (p.Leu182=)
|
rs4080078
|
0.00018
|
|
NM_000525.4(KCNJ11):c.354G>A (p.Ser118=)
|
rs140636367
|
0.00018
|
|
NM_000540.3(RYR1):c.4292C>T (p.Thr1431Met)
|
rs191656849
|
0.00018
|
|
NM_000540.3(RYR1):c.4294-4C>T
|
rs368108496
|
0.00018
|
|
NM_000540.3(RYR1):c.4911G>A (p.Ala1637=)
|
rs370350821
|
0.00018
|
|
NM_000545.8(HNF1A):c.1309+102A>T
|
rs113111047
|
0.00018
|
|
NM_000546.6(TP53):c.935C>G (p.Thr312Ser)
|
rs145151284
|
0.00018
|
|
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr)
|
rs45505895
|
0.00018
|
|
NM_000548.5(TSC2):c.4044C>T (p.His1348=)
|
rs137854084
|
0.00018
|
|
NM_000719.7(CACNA1C):c.1783G>A (p.Val595Ile)
|
rs201392574
|
0.00018
|
|
NM_000719.7(CACNA1C):c.4140+4G>A
|
rs111442547
|
0.00018
|
|
NM_001009944.3(PKD1):c.10619G>C (p.Gly3540Ala)
|
rs201409107
|
0.00018
|
|
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys)
|
rs564806219
|
0.00018
|
|
NM_001038603.3(MARVELD2):c.211A>G (p.Ile71Val)
|
rs150773481
|
0.00018
|
|
NM_001044.5(SLC6A3):c.1515C>T (p.Ser505=)
|
rs114563841
|
0.00018
|
|
NM_001048174.2(MUTYH):c.1102+9A>T
|
rs587780742
|
0.00018
|
|
NM_001065.4(TNFRSF1A):c.1206C>T (p.Ser402=)
|
rs148334665
|
0.00018
|
|
NM_001080413.3(NOBOX):c.1483C>A (p.Pro495Thr)
|
rs762648490
|
0.00018
|
|
NM_001103.4(ACTN2):c.2677G>A (p.Asp893Asn)
|
rs142646143
|
0.00018
|
|
NM_001110556.2(FLNA):c.3995A>G (p.Asp1332Gly)
|
rs200615848
|
0.00018
|
|
NM_001110792.2(MECP2):c.429C>G (p.Ala143=)
|
rs61748385
|
0.00018
|
|
NM_001113491.2(SEPTIN9):c.1042G>A (p.Asp348Asn)
|
rs201560726
|
0.00018
|
|
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn)
|
rs202123283
|
0.00018
|
|
NM_001130987.2(DYSF):c.772G>A (p.Val258Met)
|
rs150345121
|
0.00018
|
|
NM_001134363.3(RBM20):c.1816G>A (p.Val606Met)
|
rs727505067
|
0.00018
|
|
NM_001148.6(ANK2):c.2836C>T (p.Arg946Cys)
|
rs200524407
|
0.00018
|
|
NM_001148.6(ANK2):c.8116G>C (p.Glu2706Gln)
|
rs142652341
|
0.00018
|
|
NM_001148.6(ANK2):c.9526G>T (p.Asp3176Tyr)
|
rs138928206
|
0.00018
|
|
NM_001161352.2(KCNMA1):c.192C>G (p.Pro64=)
|
rs143562140
|
0.00018
|
|
NM_001164508.2(NEB):c.20896C>T (p.Arg6966Cys)
|
rs115623365
|
0.00018
|
|
NM_001164508.2(NEB):c.23377A>C (p.Met7793Leu)
|
rs199957886
|
0.00018
|
|
NM_001164508.2(NEB):c.24520G>A (p.Ala8174Thr)
|
rs199937246
|
0.00018
|
|
NM_001164508.2(NEB):c.4046T>C (p.Leu1349Pro)
|
rs183667452
|
0.00018
|
|
NM_001164508.2(NEB):c.9352A>T (p.Thr3118Ser)
|
rs543100735
|
0.00018
|
|
NM_001177316.2(SLC34A3):c.1143G>A (p.Ala381=)
|
rs369565150
|
0.00018
|
|
NM_001182.5(ALDH7A1):c.528T>C (p.His176=)
|
rs757135576
|
0.00018
|
|
NM_001243279.3(ACSF3):c.129C>T (p.Ser43=)
|
rs147915828
|
0.00018
|
|
NM_001244008.2(KIF1A):c.3202+8G>A
|
rs371620074
|
0.00018
|
|
NM_001244008.2(KIF1A):c.4554C>T (p.Ser1518=)
|
rs775395101
|
0.00018
|
|
NM_001256789.3(CACNA1F):c.761T>C (p.Ile254Thr)
|
rs202029187
|
0.00018
|
|
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly)
|
rs372304158
|
0.00018
|
|
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu)
|
rs55906845
|
0.00018
|
|
NM_001267550.2(TTN):c.23965C>T (p.Arg7989Cys)
|
rs201653851
|
0.00018
|
|
NM_001267550.2(TTN):c.26935A>C (p.Asn8979His)
|
rs376982715
|
0.00018
|
|
NM_001267550.2(TTN):c.30511+3G>A
|
rs563582627
|
0.00018
|
|
NM_001267550.2(TTN):c.32706G>A (p.Ala10902=)
|
rs372124201
|
0.00018
|
|
NM_001267550.2(TTN):c.32953C>T (p.Arg10985Trp)
|
rs201991864
|
0.00018
|
|
NM_001267550.2(TTN):c.40581A>G (p.Glu13527=)
|
rs775954427
|
0.00018
|
|
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln)
|
rs373491468
|
0.00018
|
|
NM_001267550.2(TTN):c.55205T>G (p.Ile18402Ser)
|
rs776899398
|
0.00018
|
|
NM_001267550.2(TTN):c.55512C>T (p.Asp18504=)
|
rs377164046
|
0.00018
|
|
NM_001267550.2(TTN):c.58072C>T (p.Arg19358Cys)
|
rs371973579
|
0.00018
|
|
NM_001267550.2(TTN):c.58397G>C (p.Gly19466Ala)
|
rs201922910
|
0.00018
|
|
NM_001267550.2(TTN):c.58971A>C (p.Glu19657Asp)
|
rs200728232
|
0.00018
|
|
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr)
|
rs72646853
|
0.00018
|
|
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala)
|
rs200775919
|
0.00018
|
|
NM_001267550.2(TTN):c.95961C>T (p.Ala31987=)
|
rs369405564
|
0.00018
|
|
NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=)
|
rs376532382
|
0.00018
|
|
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=)
|
rs369626133
|
0.00018
|
|
NM_001277115.2(DNAH11):c.2824C>A (p.Pro942Thr)
|
rs189569144
|
0.00018
|
|
NM_001277115.2(DNAH11):c.8145C>T (p.Asn2715=)
|
rs201592689
|
0.00018
|
|
NM_001292063.2(OTOG):c.93C>T (p.Leu31=)
|
rs776961395
|
0.00018
|
|
NM_001329943.3(KIAA0586):c.3003C>A (p.Asn1001Lys)
|
rs199537542
|
0.00018
|
|
NM_001349206.2(LPIN1):c.854C>A (p.Thr285Lys)
|
rs141555457
|
0.00018
|
|
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln)
|
rs147474255
|
0.00018
|
|
NM_001366385.1(CARD14):c.2476C>T (p.Arg826Trp)
|
rs139467141
|
0.00018
|
|
NM_001368882.1(COL13A1):c.1878C>T (p.Pro626=)
|
rs201399235
|
0.00018
|
|
NM_001369.3(DNAH5):c.11974G>C (p.Asp3992His)
|
rs143251480
|
0.00018
|
|
NM_001369.3(DNAH5):c.13837G>A (p.Val4613Met)
|
rs147583407
|
0.00018
|
|
NM_001374385.1(ATP8B1):c.1030-9G>A
|
rs201532178
|
0.00018
|
|
NM_001374828.1(ARID1B):c.446A>G (p.Asn149Ser)
|
rs776745618
|
0.00018
|
|
NM_001374828.1(ARID1B):c.980C>G (p.Pro327Arg)
|
rs775385239
|
0.00018
|
|
NM_001375808.2(LPIN2):c.1132C>T (p.Pro378Ser)
|
rs201678207
|
0.00018
|
|
NM_001375808.2(LPIN2):c.2327+10C>T
|
rs367921036
|
0.00018
|
|
NM_001384140.1(PCDH15):c.2424G>C (p.Lys808Asn)
|
rs375855445
|
0.00018
|
|
NM_001384474.1(LOXHD1):c.6243T>C (p.Cys2081=)
|
rs199645176
|
0.00018
|
|
NM_001457.4(FLNB):c.2059G>A (p.Gly687Arg)
|
rs148679414
|
0.00018
|
|
NM_001457.4(FLNB):c.4414G>A (p.Val1472Met)
|
rs141098733
|
0.00018
|
|
NM_001458.5(FLNC):c.7108G>A (p.Gly2370Ser)
|
rs201917318
|
0.00018
|
|
NM_001498.4(GCLC):c.264-11C>A
|
rs199775302
|
0.00018
|
|
NM_001620.3(AHNAK):c.10589A>G (p.Lys3530Arg)
|
rs143895650
|
0.00018
|
|
NM_001849.4(COL6A2):c.1599C>T (p.Arg533=)
|
rs373635709
|
0.00018
|
|
NM_001854.4(COL11A1):c.1296A>G (p.Ala432=)
|
rs768321160
|
0.00018
|
|
NM_001854.4(COL11A1):c.146A>G (p.Asn49Ser)
|
rs145159429
|
0.00018
|
|
NM_001854.4(COL11A1):c.5132C>T (p.Thr1711Ile)
|
rs139920081
|
0.00018
|
|
NM_001875.5(CPS1):c.3626T>C (p.Met1209Thr)
|
rs200569046
|
0.00018
|
|
NM_002230.4(JUP):c.1582G>A (p.Val528Ile)
|
rs368271628
|
0.00018
|
|
NM_002234.4(KCNA5):c.251A>C (p.Glu84Ala)
|
rs377036305
|
0.00018
|
|
NM_002292.4(LAMB2):c.5109C>T (p.Arg1703=)
|
rs151292828
|
0.00018
|
|
NM_002334.4(LRP4):c.1654A>T (p.Asn552Tyr)
|
rs201253200
|
0.00018
|
|
NM_002335.4(LRP5):c.4049T>G (p.Leu1350Arg)
|
rs531205284
|
0.00018
|
|
NM_002485.5(NBN):c.1999T>C (p.Ser667Pro)
|
rs587780091
|
0.00018
|
|
NM_002506.3(NGF):c.165G>A (p.Pro55=)
|
rs149876217
|
0.00018
|
|
NM_002529.4(NTRK1):c.504C>T (p.Gly168=)
|
rs144594313
|
0.00018
|
|
NM_002691.4(POLD1):c.2017G>A (p.Glu673Lys)
|
rs61751955
|
0.00018
|
|
NM_002769.5(PRSS1):c.453C>T (p.Gly151=)
|
rs147765409
|
0.00018
|
|
NM_002878.4(RAD51D):c.904-3C>T
|
rs45478491
|
0.00018
|
|
NM_003060.4(SLC22A5):c.1377A>G (p.Arg459=)
|
rs142264458
|
0.00018
|
|
NM_003070.5(SMARCA2):c.4516A>T (p.Ile1506Phe)
|
rs147135956
|
0.00018
|
|
NM_003235.5(TG):c.4638C>T (p.Gly1546=)
|
rs116663504
|
0.00018
|
|
NM_003239.5(TGFB3):c.412T>G (p.Ser138Ala)
|
rs201453600
|
0.00018
|
|
NM_003320.5(TUB):c.203G>A (p.Arg68His)
|
rs745541617
|
0.00018
|
|
NM_003482.4(KMT2D):c.14413G>A (p.Glu4805Lys)
|
rs563335387
|
0.00018
|
|
NM_003560.4(PLA2G6):c.396C>T (p.Arg132=)
|
rs146252218
|
0.00018
|
|
NM_003839.4(TNFRSF11A):c.321G>A (p.Thr107=)
|
rs772863037
|
0.00018
|
|
NM_004006.3(DMD):c.2291A>G (p.Asn764Ser)
|
rs199588981
|
0.00018
|
|
NM_004006.3(DMD):c.5933G>T (p.Arg1978Leu)
|
rs148135406
|
0.00018
|
|
NM_004006.3(DMD):c.94-3C>T
|
rs373907950
|
0.00018
|
|
NM_004086.3(COCH):c.87C>T (p.Pro29=)
|
rs774290415
|
0.00018
|
|
NM_004304.5(ALK):c.4200A>C (p.Glu1400Asp)
|
rs143647372
|
0.00018
|
|
NM_004341.5(CAD):c.1386+5G>A
|
rs182598111
|
0.00018
|
|
NM_004360.5(CDH1):c.2412C>T (p.Pro804=)
|
rs202075199
|
0.00018
|
|
NM_004370.6(COL12A1):c.5411G>A (p.Arg1804Gln)
|
rs200091648
|
0.00018
|
|
NM_004385.5(VCAN):c.2234A>C (p.Lys745Thr)
|
rs144502710
|
0.00018
|
|
NM_004415.4(DSP):c.269A>G (p.Gln90Arg)
|
rs188516326
|
0.00018
|
|
NM_004517.4(ILK):c.707A>G (p.Asn236Ser)
|
rs145571020
|
0.00018
|
|
NM_004525.3(LRP2):c.10661G>A (p.Arg3554Gln)
|
rs139257219
|
0.00018
|
|
NM_004525.3(LRP2):c.8073C>T (p.His2691=)
|
rs146772976
|
0.00018
|
|
NM_004568.6(SERPINB6):c.313-5C>G
|
rs370994947
|
0.00018
|
|
NM_004655.4(AXIN2):c.1829G>A (p.Arg610Gln)
|
rs376248072
|
0.00018
|
|
NM_004937.3(CTNS):c.697G>A (p.Val233Met)
|
rs201058200
|
0.00018
|
|
NM_005045.4(RELN):c.10093G>A (p.Val3365Ile)
|
rs115035120
|
0.00018
|
|
NM_005045.4(RELN):c.2125A>G (p.Met709Val)
|
rs114577182
|
0.00018
|
|
NM_005045.4(RELN):c.8863C>T (p.Arg2955Cys)
|
rs114501042
|
0.00018
|
|
NM_005422.4(TECTA):c.3556C>T (p.Arg1186Trp)
|
rs148098950
|
0.00018
|
|
NM_005529.7(HSPG2):c.6820G>A (p.Ala2274Thr)
|
rs190391786
|
0.00018
|
|
NM_005530.3(IDH3A):c.938T>C (p.Met313Thr)
|
rs149862950
|
0.00018
|
|
NM_005591.4(MRE11):c.1667A>G (p.Asn556Ser)
|
rs144896235
|
0.00018
|
|
NM_005612.5(REST):c.1933C>T (p.Arg645Trp)
|
rs138773727
|
0.00018
|
|
NM_005633.4(SOS1):c.*4C>T
|
rs188849286
|
0.00018
|
|
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys)
|
rs147834269
|
0.00018
|
|
NM_006031.6(PCNT):c.2714A>G (p.Gln905Arg)
|
rs112231246
|
0.00018
|
|
NM_006031.6(PCNT):c.6819G>A (p.Gly2273=)
|
rs200610141
|
0.00018
|
|
NM_006059.4(LAMC3):c.2390C>T (p.Pro797Leu)
|
rs150965854
|
0.00018
|
|
NM_006218.4(PIK3CA):c.2985C>T (p.Ala995=)
|
rs201884756
|
0.00018
|
|
NM_006231.4(POLE):c.1597G>A (p.Val533Met)
|
rs374140892
|
0.00018
|
|
NM_006231.4(POLE):c.5636G>A (p.Arg1879His)
|
rs145621558
|
0.00018
|
|
NM_006231.4(POLE):c.6751T>C (p.Phe2251Leu)
|
rs373768478
|
0.00018
|
|
NM_006261.5(PROP1):c.385C>T (p.Arg129Cys)
|
rs140207251
|
0.00018
|
|
NM_006389.5(HYOU1):c.2253+6T>G
|
rs201754853
|
0.00018
|
|
NM_006939.4(SOS2):c.2366T>C (p.Leu789Ser)
|
rs142863840
|
0.00018
|
|
NM_007078.3(LDB3):c.1910C>T (p.Ala637Val)
|
rs141569007
|
0.00018
|
|
NM_007259.5(VPS45):c.625G>T (p.Val209Phe)
|
rs201955039
|
0.00018
|
|
NM_007294.4(BRCA1):c.*713C>T
|
rs773119778
|
0.00018
|
|
NM_007294.4(BRCA1):c.5406+33A>T
|
rs80358092
|
0.00018
|
|
NM_007347.5(AP4E1):c.2932C>T (p.Pro978Ser)
|
rs141278078
|
0.00018
|
|
NM_012213.3(MLYCD):c.135C>T (p.Arg45=)
|
rs767969074
|
0.00018
|
|
NM_014141.6(CNTNAP2):c.2606T>C (p.Ile869Thr)
|
rs121908445
|
0.00018
|
|
NM_014141.6(CNTNAP2):c.3968A>C (p.Asp1323Ala)
|
rs142434274
|
0.00018
|
|
NM_014244.5(ADAMTS2):c.2817C>T (p.Ser939=)
|
rs201215425
|
0.00018
|
|
NM_014244.5(ADAMTS2):c.790G>A (p.Asp264Asn)
|
rs374717566
|
0.00018
|
|
NM_014639.4(SKIC3):c.3808C>G (p.Pro1270Ala)
|
rs146627706
|
0.00018
|
|
NM_014855.3(AP5Z1):c.1600G>T (p.Ala534Ser)
|
rs372517211
|
0.00018
|
|
NM_014874.4(MFN2):c.175+9G>A
|
rs373340717
|
0.00018
|
|
NM_015158.5(KANK1):c.2686G>C (p.Gly896Arg)
|
rs180806437
|
0.00018
|
|
NM_016360.4(TACO1):c.451G>A (p.Glu151Lys)
|
rs139687237
|
0.00018
|
|
NM_017617.5(NOTCH1):c.2218G>A (p.Asp740Asn)
|
rs200816814
|
0.00018
|
|
NM_017777.4(MKS1):c.491G>A (p.Arg164His)
|
rs200149256
|
0.00018
|
|
NM_017849.4(TMEM127):c.136A>G (p.Thr46Ala)
|
rs144659242
|
0.00018
|
|
NM_017999.5(RNF31):c.1804G>A (p.Gly602Arg)
|
rs375638461
|
0.00018
|
|
NM_018136.5(ASPM):c.8228G>A (p.Arg2743Gln)
|
rs202193200
|
0.00018
|
|
NM_020117.11(LARS1):c.1501G>A (p.Ala501Thr)
|
rs139960441
|
0.00018
|
|
NM_020822.3(KCNT1):c.637G>A (p.Val213Ile)
|
rs143536408
|
0.00018
|
|
NM_020822.3(KCNT1):c.867C>A (p.Ile289=)
|
rs761045901
|
0.00018
|
|
NM_020975.6(RET):c.1531G>A (p.Glu511Lys)
|
rs201553718
|
0.00018
|
|
NM_021044.4(DHH):c.234G>A (p.Val78=)
|
rs370468314
|
0.00018
|
|
NM_021098.3(CACNA1H):c.1429C>T (p.Arg477Cys)
|
rs376935647
|
0.00018
|
|
NM_021252.5(RAB18):c.148A>G (p.Ile50Val)
|
rs148786103
|
0.00018
|
|
NM_021615.5(CHST6):c.656C>T (p.Ala219Val)
|
rs201743866
|
0.00018
|
|
NM_022124.6(CDH23):c.3431-6A>T
|
rs377614198
|
0.00018
|
|
NM_022124.6(CDH23):c.5769G>A (p.Lys1923=)
|
rs554353516
|
0.00018
|
|
NM_022455.5(NSD1):c.7352G>A (p.Arg2451Lys)
|
rs200115665
|
0.00018
|
|
NM_022455.5(NSD1):c.8071G>A (p.Ala2691Thr)
|
rs201823140
|
0.00018
|
|
NM_024422.6(DSC2):c.2264G>T (p.Gly755Val)
|
rs367990772
|
0.00018
|
|
NM_030662.4(MAP2K2):c.919+10G>A
|
rs780890887
|
0.00018
|
|
NM_033109.5(PNPT1):c.2148+6A>T
|
rs374690825
|
0.00018
|
|
NM_080425.4(GNAS):c.1343A>C (p.Asp448Ala)
|
rs776846313
|
0.00018
|
|
NM_080680.3(COL11A2):c.2017-5T>G
|
rs200523422
|
0.00018
|
|
NM_130468.4(CHST14):c.471G>A (p.Val157=)
|
rs200761477
|
0.00018
|
|
NM_130837.3(OPA1):c.1700T>C (p.Ile567Thr)
|
rs148834015
|
0.00018
|
|
NM_139343.3(BIN1):c.1143G>A (p.Pro381=)
|
rs372360787
|
0.00018
|
|
NM_144997.7(FLCN):c.-431C>T
|
rs138847774
|
0.00018
|
|
NM_144997.7(FLCN):c.1523A>G (p.Lys508Arg)
|
rs199643834
|
0.00018
|
|
NM_152564.5(VPS13B):c.9369C>T (p.Cys3123=)
|
rs745668942
|
0.00018
|
|
NM_176787.5(PIGN):c.253A>G (p.Ile85Val)
|
rs202066215
|
0.00018
|
|
NM_177438.3(DICER1):c.4819C>T (p.Arg1607Trp)
|
rs189119295
|
0.00018
|
|
NM_182914.3(SYNE2):c.16405C>A (p.Pro5469Thr)
|
rs148492034
|
0.00018
|
|
NM_182914.3(SYNE2):c.19034G>A (p.Arg6345Gln)
|
rs141882853
|
0.00018
|
|
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala)
|
rs201313856
|
0.00018
|
|
NM_182961.4(SYNE1):c.22923C>T (p.Ala7641=)
|
rs2296253
|
0.00018
|
|
NM_194248.3(OTOF):c.4454C>T (p.Pro1485Leu)
|
rs200699092
|
0.00018
|
|
NM_194318.4(B3GLCT):c.1104C>T (p.Ser368=)
|
rs114425388
|
0.00018
|
|
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)
|
rs121918661
|
0.00018
|
|
NM_198253.3(TERT):c.838G>A (p.Glu280Lys)
|
rs199701877
|
0.00018
|
|
NM_198904.4(GABRG2):c.1236C>T (p.Tyr412=)
|
rs749951528
|
0.00018
|
|
NM_199242.3(UNC13D):c.1131C>G (p.Ser377Arg)
|
rs142335129
|
0.00018
|
|
NM_201384.3(PLEC):c.13247C>T (p.Thr4416Met)
|
rs201855218
|
0.00018
|
|
NM_201384.3(PLEC):c.6416G>A (p.Arg2139His)
|
rs372652727
|
0.00018
|
|
NM_201525.4(ADGRG1):c.401C>T (p.Pro134Leu)
|
rs138344683
|
0.00018
|
|
NM_206933.4(USH2A):c.14413G>A (p.Val4805Ile)
|
rs147532612
|
0.00018
|
|
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys)
|
rs201004111
|
0.00017
|
|
NM_000038.6(APC):c.7193C>T (p.Ser2398Phe)
|
rs150882838
|
0.00017
|
|
NM_000049.4(ASPA):c.230A>G (p.Asn77Ser)
|
rs574328488
|
0.00017
|
|
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys)
|
rs138398778
|
0.00017
|
|
NM_000051.4(ATM):c.2522A>C (p.Asp841Ala)
|
rs587781812
|
0.00017
|
|
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser)
|
rs370559102
|
0.00017
|
|
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys)
|
rs201314561
|
0.00017
|
|
NM_000059.4(BRCA2):c.10203G>A (p.Thr3401=)
|
rs147854265
|
0.00017
|
|
NM_000069.3(CACNA1S):c.4883T>C (p.Leu1628Pro)
|
rs576536458
|
0.00017
|
|
NM_000089.4(COL1A2):c.1583A>G (p.Asn528Ser)
|
rs41317144
|
0.00017
|
|
NM_000090.4(COL3A1):c.4086C>T (p.Ser1362=)
|
rs779774302
|
0.00017
|
|
NM_000124.4(ERCC6):c.4400G>A (p.Arg1467Gln)
|
rs145554525
|
0.00017
|
|
NM_000135.4(FANCA):c.308C>T (p.Ser103Leu)
|
rs147176389
|
0.00017
|
|
NM_000135.4(FANCA):c.3848A>G (p.Lys1283Arg)
|
rs146975341
|
0.00017
|
|
NM_000135.4(FANCA):c.874C>G (p.His292Asp)
|
rs200220791
|
0.00017
|
|
NM_000152.5(GAA):c.131G>T (p.Gly44Val)
|
rs550609502
|
0.00017
|
|
NM_000152.5(GAA):c.1848C>T (p.Asp616=)
|
rs377175810
|
0.00017
|
|
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln)
|
rs149968110
|
0.00017
|
|
NM_000153.4(GALC):c.708C>T (p.Ser236=)
|
rs773666802
|
0.00017
|
|
NM_000162.5(GCK):c.-17C>T
|
rs190731555
|
0.00017
|
|
NM_000170.3(GLDC):c.2307C>T (p.Pro769=)
|
rs565834029
|
0.00017
|
|
NM_000170.3(GLDC):c.2352C>T (p.Pro784=)
|
rs367781728
|
0.00017
|
|
NM_000179.3(MSH6):c.867C>A (p.Gly289=)
|
rs267608047
|
0.00017
|
|
NM_000243.3(MEFV):c.1245C>T (p.Val415=)
|
rs104895195
|
0.00017
|
|
NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn)
|
rs201541505
|
0.00017
|
|
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His)
|
rs202139499
|
0.00017
|
|
NM_000264.5(PTCH1):c.3617G>A (p.Arg1206His)
|
rs560967532
|
0.00017
|
|
NM_000282.4(PCCA):c.328G>C (p.Val110Leu)
|
rs150788587
|
0.00017
|
|
NM_000302.4(PLOD1):c.579+10A>G
|
rs538255620
|
0.00017
|
|
NM_000335.5(SCN5A):c.3344G>A (p.Arg1115Gln)
|
rs369678002
|
0.00017
|
|
NM_000335.5(SCN5A):c.80G>A (p.Arg27His)
|
rs199473045
|
0.00017
|
|
NM_000342.4(SLC4A1):c.277G>T (p.Ala93Ser)
|
rs145054469
|
0.00017
|
|
NM_000350.3(ABCA4):c.3607+13C>T
|
rs374630957
|
0.00017
|
|
NM_000352.6(ABCC8):c.3345G>A (p.Thr1115=)
|
rs186634115
|
0.00017
|
|
NM_000371.4(TTR):c.14G>A (p.Arg5His)
|
rs138657343
|
0.00017
|
|
NM_000384.3(APOB):c.13181T>C (p.Val4394Ala)
|
rs12720843
|
0.00017
|
|
NM_000426.4(LAMA2):c.7088C>T (p.Thr2363Ile)
|
rs371403343
|
0.00017
|
|
NM_000426.4(LAMA2):c.8989-12C>G
|
rs144860334
|
0.00017
|
|
NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu)
|
rs150946659
|
0.00017
|
|
NM_000441.2(SLC26A4):c.919-18T>G
|
rs767147359
|
0.00017
|
|
NM_000478.6(ALPL):c.413G>A (p.Arg138Gln)
|
rs140167865
|
0.00017
|
|
NM_000481.4(AMT):c.363C>T (p.Asn121=)
|
rs367604855
|
0.00017
|
|
NM_000528.4(MAN2B1):c.2268-11C>T
|
rs537217370
|
0.00017
|
|
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)
|
rs587780046
|
0.00017
|
|
NM_000545.8(HNF1A):c.1756G>A (p.Ala586Thr)
|
rs373857078
|
0.00017
|
|
NM_000548.5(TSC2):c.148A>G (p.Met50Val)
|
rs140618379
|
0.00017
|
|
NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys)
|
rs370404391
|
0.00017
|
|
NM_000642.3(AGL):c.3884G>A (p.Arg1295His)
|
rs140481863
|
0.00017
|
|
NM_000719.7(CACNA1C):c.5106G>A (p.Leu1702=)
|
rs541967618
|
0.00017
|
|
NM_000787.4(DBH):c.1840G>A (p.Gly614Arg)
|
rs76316834
|
0.00017
|
|
NM_000787.4(DBH):c.354C>T (p.Asp118=)
|
rs199898782
|
0.00017
|
|
NM_000890.5(KCNJ5):c.1123C>T (p.Arg375Trp)
|
rs142454198
|
0.00017
|
|
NM_001005373.4(LRSAM1):c.94G>A (p.Asp32Asn)
|
rs150784835
|
0.00017
|
|
NM_001008216.2(GALE):c.447C>G (p.Pro149=)
|
rs571625657
|
0.00017
|
|
NM_001032386.2(SUOX):c.574C>T (p.Arg192Trp)
|
rs139444405
|
0.00017
|
|
NM_001033855.3(DCLRE1C):c.1545A>G (p.Gly515=)
|
rs41300672
|
0.00017
|
|
NM_001038603.3(MARVELD2):c.*2G>A
|
rs530892254
|
0.00017
|
|
NM_001039141.3(TRIOBP):c.409A>G (p.Ser137Gly)
|
rs201008196
|
0.00017
|
|
NM_001039876.3(SYNE4):c.213C>T (p.Ala71=)
|
rs182159084
|
0.00017
|
|
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val)
|
rs201712827
|
0.00017
|
|
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=)
|
rs372100073
|
0.00017
|
|
NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr)
|
rs199498900
|
0.00017
|
|
NM_001083961.2(WDR62):c.1233+7C>G
|
rs537771936
|
0.00017
|
|
NM_001106.4(ACVR2B):c.1269G>A (p.Ser423=)
|
rs146067304
|
0.00017
|
|
NM_001111125.3(IQSEC2):c.2322T>C (p.Tyr774=)
|
rs147706810
|
0.00017
|
|
NM_001127222.2(CACNA1A):c.6494G>A (p.Arg2165His)
|
rs727503832
|
0.00017
|
|
NM_001127222.2(CACNA1A):c.7050C>T (p.Ala2350=)
|
rs932173199
|
0.00017
|
|
NM_001127222.2(CACNA1A):c.7327G>A (p.Ala2443Thr)
|
rs533884784
|
0.00017
|
|
NM_001128425.2(MUTYH):c.42C>T (p.Ile14=)
|
rs202240122
|
0.00017
|
|
NM_001130987.2(DYSF):c.3756T>C (p.Tyr1252=)
|
rs141720146
|
0.00017
|
|
NM_001142784.3(IL11RA):c.344G>A (p.Arg115His)
|
rs201997285
|
0.00017
|
|
NM_001145809.2(MYH14):c.4028C>T (p.Ala1343Val)
|
rs374058410
|
0.00017
|
|
NM_001148.6(ANK2):c.7148C>T (p.Pro2383Leu)
|
rs35960628
|
0.00017
|
|
NM_001148.6(ANK2):c.7183A>C (p.Thr2395Pro)
|
rs201693280
|
0.00017
|
|
NM_001159699.2(FHL1):c.409G>A (p.Val137Ile)
|
rs139402062
|
0.00017
|
|
NM_001164508.2(NEB):c.24096T>G (p.Asn8032Lys)
|
rs770023115
|
0.00017
|
|
NM_001244926.2(PRPF4):c.739A>G (p.Thr247Ala)
|
rs563764064
|
0.00017
|
|
NM_001267550.2(TTN):c.101708G>A (p.Arg33903His)
|
rs72629782
|
0.00017
|
|
NM_001267550.2(TTN):c.106349C>G (p.Thr35450Ser)
|
rs371022420
|
0.00017
|
|
NM_001267550.2(TTN):c.14533G>A (p.Asp4845Asn)
|
rs373378672
|
0.00017
|
|
NM_001267550.2(TTN):c.1709C>T (p.Ala570Val)
|
rs146690035
|
0.00017
|
|
NM_001267550.2(TTN):c.22439A>C (p.Gln7480Pro)
|
rs201065037
|
0.00017
|
|
NM_001267550.2(TTN):c.30513A>T (p.Glu10171Asp)
|
rs577066020
|
0.00017
|
|
NM_001267550.2(TTN):c.40352C>A (p.Pro13451His)
|
rs370048456
|
0.00017
|
|
NM_001267550.2(TTN):c.50212G>A (p.Glu16738Lys)
|
rs148018042
|
0.00017
|
|
NM_001267550.2(TTN):c.51683C>T (p.Ala17228Val)
|
rs370644359
|
0.00017
|
|
NM_001267550.2(TTN):c.54718G>A (p.Val18240Ile)
|
rs375141729
|
0.00017
|
|
NM_001267550.2(TTN):c.61556G>A (p.Arg20519Gln)
|
rs727504191
|
0.00017
|
|
NM_001267550.2(TTN):c.65575+10T>C
|
rs72646864
|
0.00017
|
|
NM_001267550.2(TTN):c.687T>C (p.Phe229=)
|
rs376527094
|
0.00017
|
|
NM_001267550.2(TTN):c.77848C>T (p.Leu25950Phe)
|
rs376814602
|
0.00017
|
|
NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn)
|
rs200697681
|
0.00017
|
|
NM_001277115.2(DNAH11):c.13162+12C>T
|
rs191638909
|
0.00017
|
|
NM_001278116.2(L1CAM):c.256G>A (p.Val86Met)
|
rs149309725
|
0.00017
|
|
NM_001289104.2(PRKCSH):c.1559C>T (p.Pro520Leu)
|
rs139214550
|
0.00017
|
|
NM_001291303.3(FAT4):c.6977C>T (p.Thr2326Ile)
|
rs200344386
|
0.00017
|
|
NM_001297.5(CNGB1):c.1478C>T (p.Pro493Leu)
|
rs148555948
|
0.00017
|
|
NM_001303.4(COX10):c.624+4A>G
|
rs199668725
|
0.00017
|
|
NM_001329943.3(KIAA0586):c.4084A>T (p.Met1362Leu)
|
rs531527716
|
0.00017
|
|
NM_001330260.2(SCN8A):c.3148G>A (p.Gly1050Ser)
|
rs202006479
|
0.00017
|
|
NM_001351132.2(PEX5):c.316+3G>A
|
rs200776790
|
0.00017
|
|
NM_001354930.2(RIPK1):c.931G>A (p.Glu311Lys)
|
rs184895368
|
0.00017
|
|
NM_001365536.1(SCN9A):c.1177C>T (p.Leu393=)
|
rs184773311
|
0.00017
|
|
NM_001367624.2(ZNF469):c.7850G>A (p.Arg2617Gln)
|
rs200019229
|
0.00017
|
|
NM_001375808.2(LPIN2):c.2328-13A>T
|
rs199830303
|
0.00017
|
|
NM_001377.3(DYNC2H1):c.12457-13T>C
|
rs537890566
|
0.00017
|
|
NM_001377299.1(NDUFS2):c.600C>T (p.Phe200=)
|
rs138185030
|
0.00017
|
|
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg)
|
rs200586877
|
0.00017
|
|
NM_001379451.1(BCORL1):c.62G>A (p.Arg21His)
|
rs778701486
|
0.00017
|
|
NM_001379610.1(SPINK1):c.87+26T>C
|
rs200296519
|
0.00017
|
|
NM_001384732.1(CPLANE1):c.4306C>T (p.Pro1436Ser)
|
rs183021118
|
0.00017
|
|
NM_001384732.1(CPLANE1):c.7559A>G (p.His2520Arg)
|
rs369951498
|
0.00017
|
|
NM_001395413.1(POR):c.180-10T>C
|
rs374111607
|
0.00017
|
|
NM_001609.4(ACADSB):c.795C>T (p.Phe265=)
|
rs150619709
|
0.00017
|
|
NM_001614.5(ACTG1):c.825C>T (p.His275=)
|
rs145303691
|
0.00017
|
|
NM_001844.5(COL2A1):c.2620C>T (p.Pro874Ser)
|
rs377198201
|
0.00017
|
|
NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu)
|
rs199557190
|
0.00017
|
|
NM_001848.3(COL6A1):c.2091G>A (p.Met697Ile)
|
rs372750707
|
0.00017
|
|
NM_001875.5(CPS1):c.3057T>C (p.Thr1019=)
|
rs150601728
|
0.00017
|
|
NM_001943.5(DSG2):c.1851C>T (p.Leu617=)
|
rs202057770
|
0.00017
|
|
NM_001999.4(FBN2):c.7700C>T (p.Thr2567Ile)
|
rs150672907
|
0.00017
|
|
NM_002025.4(AFF2):c.2424C>T (p.Asp808=)
|
rs139807832
|
0.00017
|
|
NM_002185.5(IL7R):c.602A>G (p.Tyr201Cys)
|
rs145810271
|
0.00017
|
|
NM_002474.3(MYH11):c.1212G>C (p.Gly404=)
|
rs201198815
|
0.00017
|
|
NM_002529.4(NTRK1):c.631G>A (p.Val211Met)
|
rs201192875
|
0.00017
|
|
NM_002618.4(PEX13):c.856G>A (p.Val286Ile)
|
rs201699810
|
0.00017
|
|
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp)
|
rs200257554
|
0.00017
|
|
NM_002693.3(POLG):c.2028G>A (p.Ala676=)
|
rs373550219
|
0.00017
|
|
NM_003060.4(SLC22A5):c.852C>T (p.Leu284=)
|
rs146185976
|
0.00017
|
|
NM_003072.5(SMARCA4):c.425G>T (p.Gly142Val)
|
rs145749221
|
0.00017
|
|
NM_003098.3(SNTA1):c.1088A>C (p.Glu363Ala)
|
rs147964932
|
0.00017
|
|
NM_003098.3(SNTA1):c.430T>G (p.Ser144Ala)
|
rs142978180
|
0.00017
|
|
NM_003465.3(CHIT1):c.480+12C>T
|
rs201180236
|
0.00017
|
|
NM_003560.4(PLA2G6):c.1427C>T (p.Thr476Ile)
|
rs146684391
|
0.00017
|
|
NM_003673.4(TCAP):c.270G>A (p.Pro90=)
|
rs372538567
|
0.00017
|
|
NM_003742.4(ABCB11):c.2768C>T (p.Thr923Ile)
|
rs199514789
|
0.00017
|
|
NM_003850.3(SUCLA2):c.272-13G>C
|
rs367890526
|
0.00017
|
|
NM_004006.3(DMD):c.2858C>T (p.Thr953Ile)
|
rs142133195
|
0.00017
|
|
NM_004006.3(DMD):c.5076A>G (p.Thr1692=)
|
rs145181319
|
0.00017
|
|
NM_004076.5(CRYBB3):c.584G>A (p.Arg195His)
|
rs147937174
|
0.00017
|
|
NM_004100.5(EYA4):c.1617-11C>T
|
rs118166702
|
0.00017
|
|
NM_004278.4(PIGL):c.446G>C (p.Gly149Ala)
|
rs140211194
|
0.00017
|
|
NM_004320.6(ATP2A1):c.2310C>T (p.Gly770=)
|
rs7192781
|
0.00017
|
|
NM_004369.4(COL6A3):c.3751G>A (p.Val1251Ile)
|
rs199646208
|
0.00017
|
|
NM_004369.4(COL6A3):c.4006G>A (p.Val1336Ile)
|
rs144051775
|
0.00017
|
|
NM_004369.4(COL6A3):c.7401G>A (p.Ser2467=)
|
rs377572272
|
0.00017
|
|
NM_004369.4(COL6A3):c.8805G>A (p.Ala2935=)
|
rs200111289
|
0.00017
|
|
NM_004370.6(COL12A1):c.8336G>A (p.Arg2779His)
|
rs190917891
|
0.00017
|
|
NM_004380.3(CREBBP):c.6340G>A (p.Gly2114Ser)
|
rs139169188
|
0.00017
|
|
NM_004385.5(VCAN):c.6322C>G (p.Gln2108Glu)
|
rs62364883
|
0.00017
|
|
NM_004393.6(DAG1):c.1308G>A (p.Thr436=)
|
rs143763229
|
0.00017
|
|
NM_004407.4(DMP1):c.1396A>G (p.Ser466Gly)
|
rs770626072
|
0.00017
|
|
NM_004525.3(LRP2):c.2210C>T (p.Ser737Leu)
|
rs201860953
|
0.00017
|
|
NM_004560.4(ROR2):c.2694G>C (p.Gln898His)
|
rs141070315
|
0.00017
|
|
NM_004560.4(ROR2):c.2698G>A (p.Ala900Thr)
|
rs202213533
|
0.00017
|
|
NM_004560.4(ROR2):c.380C>T (p.Thr127Met)
|
rs375080866
|
0.00017
|
|
NM_004715.5(CTDP1):c.669G>A (p.Thr223=)
|
rs146831211
|
0.00017
|
|
NM_004817.4(TJP2):c.705G>T (p.Arg235=)
|
rs750625862
|
0.00017
|
|
NM_004840.3(ARHGEF6):c.262G>C (p.Asp88His)
|
rs149768069
|
0.00017
|
|
NM_004959.5(NR5A1):c.1266C>T (p.Cys422=)
|
rs140408680
|
0.00017
|
|
NM_004999.4(MYO6):c.188-3T>C
|
rs373199401
|
0.00017
|
|
NM_004999.4(MYO6):c.262-12T>G
|
rs368072756
|
0.00017
|
|
NM_005045.4(RELN):c.6647G>A (p.Arg2216Gln)
|
rs200010849
|
0.00017
|
|
NM_005219.5(DIAPH1):c.301-5C>T
|
rs190481949
|
0.00017
|
|
NM_005431.2(XRCC2):c.613T>G (p.Ser205Ala)
|
rs56103026
|
0.00017
|
|
NM_005502.4(ABCA1):c.2444A>G (p.Glu815Gly)
|
rs145582736
|
0.00017
|
|
NM_005502.4(ABCA1):c.4250G>A (p.Arg1417His)
|
rs116034780
|
0.00017
|
|
NM_005535.3(IL12RB1):c.735G>A (p.Val245=)
|
rs17878522
|
0.00017
|
|
NM_005633.4(SOS1):c.3286T>A (p.Ser1096Thr)
|
rs376722127
|
0.00017
|
|
NM_005802.5(TOPORS):c.2019T>A (p.Arg673=)
|
rs760719392
|
0.00017
|
|
NM_005802.5(TOPORS):c.2862A>C (p.Thr954=)
|
rs143560726
|
0.00017
|
|
NM_005989.4(AKR1D1):c.396C>T (p.Tyr132=)
|
rs149920599
|
0.00017
|
|
NM_006005.3(WFS1):c.1774C>G (p.Leu592Val)
|
rs759136937
|
0.00017
|
|
NM_006005.3(WFS1):c.975C>T (p.Asn325=)
|
rs141177727
|
0.00017
|
|
NM_006019.4(TCIRG1):c.1227C>T (p.His409=)
|
rs145080707
|
0.00017
|
|
NM_006031.6(PCNT):c.1040A>G (p.Lys347Arg)
|
rs80166001
|
0.00017
|
|
NM_006059.4(LAMC3):c.2468A>G (p.Asn823Ser)
|
rs140325029
|
0.00017
|
|
NM_006348.5(COG5):c.1725G>A (p.Glu575=)
|
rs145128460
|
0.00017
|
|
NM_006486.3(FBLN1):c.490A>G (p.Ile164Val)
|
rs145471003
|
0.00017
|
|
NM_006514.4(SCN10A):c.5200G>A (p.Glu1734Lys)
|
rs200645452
|
0.00017
|
|
NM_006662.3(SRCAP):c.5206C>G (p.Pro1736Ala)
|
rs199521388
|
0.00017
|
|
NM_006790.3(MYOT):c.1364G>A (p.Arg455Gln)
|
rs141801816
|
0.00017
|
|
NM_006901.4(MYO9A):c.5093A>G (p.Asp1698Gly)
|
rs150726107
|
0.00017
|
|
NM_007078.3(LDB3):c.1858-10T>C
|
rs202208256
|
0.00017
|
|
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys)
|
rs28897686
|
0.00017
|
|
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile)
|
rs28897690
|
0.00017
|
|
NM_014141.6(CNTNAP2):c.1480G>A (p.Glu494Lys)
|
rs149032771
|
0.00017
|
|
NM_014141.6(CNTNAP2):c.515T>C (p.Ile172Thr)
|
rs201326295
|
0.00017
|
|
NM_014244.5(ADAMTS2):c.3342C>T (p.Asn1114=)
|
rs79606317
|
0.00017
|
|
NM_014363.6(SACS):c.11928T>C (p.Ser3976=)
|
rs145680118
|
0.00017
|
|
NM_014363.6(SACS):c.3282C>T (p.Asn1094=)
|
rs145499245
|
0.00017
|
|
NM_014363.6(SACS):c.6084A>T (p.Glu2028Asp)
|
rs149018756
|
0.00017
|
|
NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys)
|
rs138379074
|
0.00017
|
|
NM_014391.3(ANKRD1):c.347C>T (p.Thr116Met)
|
rs142354133
|
0.00017
|
|
NM_014780.5(CUL7):c.1570-8G>A
|
rs372757013
|
0.00017
|
|
NM_014856.3(DENND4B):c.2828G>C (p.Trp943Ser)
|
rs201381125
|
0.00017
|
|
NM_014874.4(MFN2):c.2157G>A (p.Lys719=)
|
rs148441213
|
0.00017
|
|
NM_015102.5(NPHP4):c.3028G>A (p.Asp1010Asn)
|
rs200166175
|
0.00017
|
|
NM_015102.5(NPHP4):c.4107G>A (p.Pro1369=)
|
rs200569946
|
0.00017
|
|
NM_015627.3(LDLRAP1):c.850G>A (p.Ala284Thr)
|
rs144622500
|
0.00017
|
|
NM_015909.4(NBAS):c.2012T>G (p.Phe671Cys)
|
rs143212851
|
0.00017
|
|
NM_016169.4(SUFU):c.880G>A (p.Gly294Ser)
|
rs143807689
|
0.00017
|
|
NM_016239.4(MYO15A):c.2116G>A (p.Ala706Thr)
|
rs932191004
|
0.00017
|
|
NM_017617.5(NOTCH1):c.454G>A (p.Gly152Ser)
|
rs750242131
|
0.00017
|
|
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser)
|
rs367825691
|
0.00017
|
|
NM_017739.4(POMGNT1):c.1831C>T (p.Leu611=)
|
rs367848204
|
0.00017
|
|
NM_017780.4(CHD7):c.6247C>T (p.Pro2083Ser)
|
rs370972259
|
0.00017
|
|
NM_018006.5(TRMU):c.853G>A (p.Val285Ile)
|
rs147754663
|
0.00017
|
|
NM_018109.4(MTPAP):c.1313-3C>T
|
rs201064853
|
0.00017
|
|
NM_019098.5(CNGB3):c.1898A>G (p.Asp633Gly)
|
rs139337746
|
0.00017
|
|
NM_020297.4(ABCC9):c.4512+690C>T
|
rs397517191
|
0.00017
|
|
NM_020433.5(JPH2):c.1852A>G (p.Thr618Ala)
|
rs376612687
|
0.00017
|
|
NM_020451.3(SELENON):c.1638C>T (p.Ile546=)
|
rs201066183
|
0.00017
|
|
NM_020937.4(FANCM):c.2809C>T (p.Leu937Phe)
|
rs138274490
|
0.00017
|
|
NM_020937.4(FANCM):c.5848T>G (p.Leu1950Val)
|
rs146436929
|
0.00017
|
|
NM_020987.5(ANK3):c.4907G>A (p.Arg1636Lys)
|
rs188159332
|
0.00017
|
|
NM_022042.4(SLC26A1):c.197G>A (p.Arg66Gln)
|
rs201219683
|
0.00017
|
|
NM_022095.4(ZNF335):c.2961G>A (p.Gln987=)
|
rs181061162
|
0.00017
|
|
NM_022124.6(CDH23):c.6426A>G (p.Leu2142=)
|
rs371932558
|
0.00017
|
|
NM_022455.5(NSD1):c.1558G>A (p.Ala520Thr)
|
rs559617787
|
0.00017
|
|
NM_022464.5(SIL1):c.699T>C (p.Asn233=)
|
rs140891877
|
0.00017
|
|
NM_024306.5(FA2H):c.925G>A (p.Val309Ile)
|
rs150427439
|
0.00017
|
|
NM_024334.3(TMEM43):c.361A>G (p.Met121Val)
|
rs369878538
|
0.00017
|
|
NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln)
|
rs146014987
|
0.00017
|
|
NM_024589.3(ROGDI):c.532-4G>A
|
rs3747610
|
0.00017
|
|
NM_024592.5(SRD5A3):c.43C>T (p.Leu15=)
|
rs376944136
|
0.00017
|
|
NM_024596.5(MCPH1):c.1443C>T (p.Ile481=)
|
rs185736569
|
0.00017
|
|
NM_024598.4(USB1):c.512T>C (p.Ile171Thr)
|
rs149725439
|
0.00017
|
|
NM_024757.5(EHMT1):c.1947G>A (p.Ser649=)
|
rs139206060
|
0.00017
|
|
NM_024876.4(COQ8B):c.706G>A (p.Val236Met)
|
rs146225943
|
0.00017
|
|
NM_025074.7(FRAS1):c.10234C>T (p.Arg3412Cys)
|
rs187826477
|
0.00017
|
|
NM_025074.7(FRAS1):c.4032G>T (p.Gly1344=)
|
rs371941648
|
0.00017
|
|
NM_025074.7(FRAS1):c.990A>G (p.Glu330=)
|
rs374045395
|
0.00017
|
|
NM_025137.4(SPG11):c.4873C>T (p.Leu1625Phe)
|
rs371716779
|
0.00017
|
|
NM_030665.4(RAI1):c.5379C>T (p.Gly1793=)
|
rs372539998
|
0.00017
|
|
NM_030667.3(PTPRO):c.1973C>T (p.Thr658Met)
|
rs150159022
|
0.00017
|
|
NM_032043.3(BRIP1):c.854A>G (p.His285Arg)
|
rs141055990
|
0.00017
|
|
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg)
|
rs182698253
|
0.00017
|
|
NM_032119.4(ADGRV1):c.16640G>A (p.Arg5547His)
|
rs200907244
|
0.00017
|
|
NM_032119.4(ADGRV1):c.686A>G (p.Asp229Gly)
|
rs200541858
|
0.00017
|
|
NM_032119.4(ADGRV1):c.9558C>T (p.Thr3186=)
|
rs201089046
|
0.00017
|
|
NM_032237.5(POMK):c.373A>T (p.Met125Leu)
|
rs146303063
|
0.00017
|
|
NM_033305.3(VPS13A):c.6541G>A (p.Val2181Ile)
|
rs146158125
|
0.00017
|
|
NM_033337.3(CAV3):c.234G>A (p.Thr78=)
|
rs148846096
|
0.00017
|
|
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val)
|
rs104886192
|
0.00017
|
|
NM_052945.4(TNFRSF13C):c.375G>A (p.Glu125=)
|
rs371805226
|
0.00017
|
|
NM_058216.3(RAD51C):c.258A>T (p.Thr86=)
|
rs149228565
|
0.00017
|
|
NM_058216.3(RAD51C):c.640C>T (p.Arg214Cys)
|
rs140804406
|
0.00017
|
|
NM_058216.3(RAD51C):c.890T>C (p.Leu297Pro)
|
rs143026267
|
0.00017
|
|
NM_080680.3(COL11A2):c.1002G>C (p.Glu334Asp)
|
rs34415548
|
0.00017
|
|
NM_130837.3(OPA1):c.70A>G (p.Ile24Val)
|
rs201520438
|
0.00017
|
|
NM_133642.5(LARGE1):c.584G>A (p.Arg195His)
|
rs147597912
|
0.00017
|
|
NM_138691.3(TMC1):c.2070G>A (p.Ala690=)
|
rs145757452
|
0.00017
|
|
NM_138694.4(PKHD1):c.1765C>T (p.Arg589Cys)
|
rs137972270
|
0.00017
|
|
NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=)
|
rs200679577
|
0.00017
|
|
NM_138694.4(PKHD1):c.8022G>T (p.Leu2674=)
|
rs755688912
|
0.00017
|
|
NM_138694.4(PKHD1):c.831C>T (p.Ile277=)
|
rs142678486
|
0.00017
|
|
NM_138711.6(PPARG):c.391-3C>T
|
rs370830238
|
0.00017
|
|
NM_139057.4(ADAMTS17):c.1887C>T (p.Asp629=)
|
rs145594305
|
0.00017
|
|
NM_144670.6(A2ML1):c.1433C>T (p.Pro478Leu)
|
rs201762847
|
0.00017
|
|
NM_144997.7(FLCN):c.580C>T (p.Arg194Trp)
|
rs138070947
|
0.00017
|
|
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys)
|
rs139141291
|
0.00017
|
|
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile)
|
rs147204964
|
0.00017
|
|
NM_153700.2(STRC):c.2640G>T (p.Glu880Asp)
|
rs1342864499
|
0.00017
|
|
NM_170665.4(ATP2A2):c.1096A>G (p.Met366Val)
|
rs199776454
|
0.00017
|
|
NM_172250.3(MMAA):c.630A>G (p.Pro210=)
|
rs374347679
|
0.00017
|
|
NM_175875.5(SIX5):c.1462C>T (p.Pro488Ser)
|
rs200487992
|
0.00017
|
|
NM_177438.3(DICER1):c.4207-3C>T
|
rs376041812
|
0.00017
|
|
NM_177550.5(SLC13A5):c.1372G>A (p.Val458Met)
|
rs372801738
|
0.00017
|
|
NM_182914.3(SYNE2):c.12655G>A (p.Ala4219Thr)
|
rs138644399
|
0.00017
|
|
NM_182914.3(SYNE2):c.14139+5G>A
|
rs374778697
|
0.00017
|
|
NM_182914.3(SYNE2):c.19136G>A (p.Arg6379His)
|
rs150629598
|
0.00017
|
|
NM_198576.4(AGRN):c.3732C>T (p.His1244=)
|
rs536657086
|
0.00017
|
|
NM_201384.3(PLEC):c.10011G>A (p.Thr3337=)
|
rs367762942
|
0.00017
|
|
NM_201384.3(PLEC):c.10521C>T (p.Asp3507=)
|
rs201905804
|
0.00017
|
|
NM_201384.3(PLEC):c.4652G>A (p.Arg1551His)
|
rs374991369
|
0.00017
|
|
NM_201384.3(PLEC):c.6971G>A (p.Arg2324Gln)
|
rs561571844
|
0.00017
|
|
NM_201384.3(PLEC):c.7383G>T (p.Lys2461Asn)
|
rs371673069
|
0.00017
|
|
NM_000017.4(ACADS):c.465C>T (p.Ser155=)
|
rs141492002
|
0.00016
|
|
NM_000037.4(ANK1):c.3282G>A (p.Thr1094=)
|
rs144821829
|
0.00016
|
|
NM_000037.4(ANK1):c.5376C>T (p.Thr1792=)
|
rs147232364
|
0.00016
|
|
NM_000038.6(APC):c.7625A>G (p.Asn2542Ser)
|
rs151163793
|
0.00016
|
|
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)
|
rs201199629
|
0.00016
|
|
NM_000052.7(ATP7A):c.1954C>T (p.Arg652Trp)
|
rs377714939
|
0.00016
|
|
NM_000053.4(ATP7B):c.445G>A (p.Val149Met)
|
rs200606656
|
0.00016
|
|
NM_000057.4(BLM):c.3397A>G (p.Lys1133Glu)
|
rs145027663
|
0.00016
|
|
NM_000057.4(BLM):c.3751+10C>T
|
rs199685140
|
0.00016
|
|
NM_000059.4(BRCA2):c.9649-20C>T
|
rs56177715
|
0.00016
|
|
NM_000066.4(C8B):c.1234+6T>C
|
rs759561922
|
0.00016
|
|
NM_000069.3(CACNA1S):c.1143C>T (p.Phe381=)
|
rs144883479
|
0.00016
|
|
NM_000069.3(CACNA1S):c.1458G>A (p.Leu486=)
|
rs528563981
|
0.00016
|
|
NM_000069.3(CACNA1S):c.1777C>T (p.Arg593Trp)
|
rs138541733
|
0.00016
|
|
NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met)
|
rs147112322
|
0.00016
|
|
NM_000069.3(CACNA1S):c.2490+5C>T
|
rs369813191
|
0.00016
|
|
NM_000070.3(CAPN3):c.1830C>T (p.Asn610=)
|
rs202019404
|
0.00016
|
|
NM_000077.5(CDKN2A):c.365G>T (p.Gly122Val)
|
rs373291490
|
0.00016
|
|
NM_000080.4(CHRNE):c.797C>T (p.Ala266Val)
|
rs201463598
|
0.00016
|
|
NM_000081.4(LYST):c.6291C>T (p.Ala2097=)
|
rs199857997
|
0.00016
|
|
NM_000083.3(CLCN1):c.314G>A (p.Arg105His)
|
rs756353660
|
0.00016
|
|
NM_000089.4(COL1A2):c.2168A>G (p.Asn723Ser)
|
rs189374343
|
0.00016
|
|
NM_000091.5(COL4A3):c.1310C>T (p.Pro437Leu)
|
rs148686474
|
0.00016
|
|
NM_000092.5(COL4A4):c.1055C>T (p.Pro352Leu)
|
rs371717486
|
0.00016
|
|
NM_000092.5(COL4A4):c.4924C>T (p.His1642Tyr)
|
rs200450557
|
0.00016
|
|
NM_000093.5(COL5A1):c.3130G>A (p.Ala1044Thr)
|
rs370143255
|
0.00016
|
|
NM_000094.4(COL7A1):c.4684G>A (p.Ala1562Thr)
|
rs143352280
|
0.00016
|
|
NM_000094.4(COL7A1):c.7793C>T (p.Pro2598Leu)
|
rs200138839
|
0.00016
|
|
NM_000103.4(CYP19A1):c.721T>A (p.Tyr241Asn)
|
rs143562020
|
0.00016
|
|
NM_000123.4(ERCC5):c.1711C>T (p.Pro571Ser)
|
rs141763734
|
0.00016
|
|
NM_000128.4(F11):c.1431C>T (p.Ser477=)
|
rs149568223
|
0.00016
|
|
NM_000130.5(F5):c.4972-14A>C
|
rs763080313
|
0.00016
|
|
NM_000130.5(F5):c.524A>G (p.His175Arg)
|
rs201510575
|
0.00016
|
|
NM_000130.5(F5):c.628C>A (p.Gln210Lys)
|
rs144937515
|
0.00016
|
|
NM_000135.4(FANCA):c.116G>A (p.Arg39Lys)
|
rs151089298
|
0.00016
|
|
NM_000135.4(FANCA):c.1226-13G>C
|
rs377159744
|
0.00016
|
|
NM_000135.4(FANCA):c.2504+6C>G
|
rs749556479
|
0.00016
|
|
NM_000135.4(FANCA):c.3348+7G>T
|
rs185527578
|
0.00016
|
|
NM_000135.4(FANCA):c.3409-9C>G
|
rs368943794
|
0.00016
|
|
NM_000135.4(FANCA):c.688G>A (p.Val230Ile)
|
rs144560850
|
0.00016
|
|
NM_000137.4(FAH):c.150T>C (p.Phe50=)
|
rs186471906
|
0.00016
|
|
NM_000137.4(FAH):c.741C>T (p.Leu247=)
|
rs145851627
|
0.00016
|
|
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr)
|
rs140890215
|
0.00016
|
|
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys)
|
rs201309310
|
0.00016
|
|
NM_000138.5(FBN1):c.6380-3A>G
|
rs567703513
|
0.00016
|
|
NM_000138.5(FBN1):c.8027C>T (p.Pro2676Leu)
|
rs146469379
|
0.00016
|
|
NM_000146.4(FTL):c.169G>A (p.Glu57Lys)
|
rs201241191
|
0.00016
|
|
NM_000159.4(GCDH):c.627C>T (p.Thr209=)
|
rs143172809
|
0.00016
|
|
NM_000162.5(GCK):c.735G>A (p.Glu245=)
|
rs775481896
|
0.00016
|
|
NM_000170.3(GLDC):c.2024A>C (p.Asn675Thr)
|
rs749513146
|
0.00016
|
|
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe)
|
rs267608075
|
0.00016
|
|
NM_000179.3(MSH6):c.866G>A (p.Gly289Asp)
|
rs368318845
|
0.00016
|
|
NM_000203.5(IDUA):c.1863A>C (p.Arg621=)
|
rs762586
|
0.00016
|
|
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys)
|
rs200237798
|
0.00016
|
|
NM_000203.5(IDUA):c.663C>G (p.Pro221=)
|
rs368553582
|
0.00016
|
|
NM_000214.3(JAG1):c.1628G>A (p.Arg543His)
|
rs544877858
|
0.00016
|
|
NM_000214.3(JAG1):c.2979C>T (p.Ser993=)
|
rs542976402
|
0.00016
|
|
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp)
|
rs140452381
|
0.00016
|
|
NM_000222.3(KIT):c.1674G>A (p.Lys558=)
|
rs200375589
|
0.00016
|
|
NM_000237.3(LPL):c.1325T>G (p.Val442Gly)
|
rs116403115
|
0.00016
|
|
NM_000238.4(KCNH2):c.431A>T (p.Asp144Val)
|
rs146284716
|
0.00016
|
|
NM_000240.4(MAOA):c.1248G>A (p.Met416Ile)
|
rs772161607
|
0.00016
|
|
NM_000245.4(MET):c.1412G>A (p.Gly471Glu)
|
rs373312981
|
0.00016
|
|
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys)
|
rs63750114
|
0.00016
|
|
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala)
|
rs41295280
|
0.00016
|
|
NM_000251.3(MSH2):c.1275A>G (p.Glu425=)
|
rs63751650
|
0.00016
|
|
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys)
|
rs193922377
|
0.00016
|
|
NM_000256.3(MYBPC3):c.1566G>A (p.Ala522=)
|
rs376041792
|
0.00016
|
|
NM_000256.3(MYBPC3):c.246T>C (p.Ile82=)
|
rs372502369
|
0.00016
|
|
NM_000257.4(MYH7):c.5718A>C (p.Ala1906=)
|
rs45523233
|
0.00016
|
|
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile)
|
rs192378817
|
0.00016
|
|
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=)
|
rs570316231
|
0.00016
|
|
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=)
|
rs368521316
|
0.00016
|
|
NM_000264.5(PTCH1):c.4001G>A (p.Ser1334Asn)
|
rs200620662
|
0.00016
|
|
NM_000264.5(PTCH1):c.499G>A (p.Ala167Thr)
|
rs149547604
|
0.00016
|
|
NM_000268.4(NF2):c.613A>G (p.Met205Val)
|
rs141629512
|
0.00016
|
|
NM_000271.5(NPC1):c.233G>A (p.Arg78Gln)
|
rs373274825
|
0.00016
|
|
NM_000271.5(NPC1):c.3732C>T (p.Leu1244=)
|
rs1621962
|
0.00016
|
|
NM_000273.3(GPR143):c.664T>C (p.Ser222Pro)
|
rs149605054
|
0.00016
|
|
NM_000334.4(SCN4A):c.4519G>A (p.Val1507Ile)
|
rs140517911
|
0.00016
|
|
NM_000335.5(SCN5A):c.5334G>A (p.Thr1778=)
|
rs41311121
|
0.00016
|
|
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln)
|
rs200476861
|
0.00016
|
|
NM_000350.3(ABCA4):c.5312+8G>A
|
rs187953772
|
0.00016
|
|
NM_000352.6(ABCC8):c.3399+12C>T
|
rs372561049
|
0.00016
|
|
NM_000352.6(ABCC8):c.4412-14C>T
|
rs193922404
|
0.00016
|
|
NM_000360.4(TH):c.585G>A (p.Ser195=)
|
rs376615793
|
0.00016
|
|
NM_000368.5(TSC1):c.201A>G (p.Pro67=)
|
rs371555137
|
0.00016
|
|
NM_000384.3(APOB):c.7721C>T (p.Ala2574Val)
|
rs150843941
|
0.00016
|
|
NM_000384.3(APOB):c.8882A>G (p.Asn2961Ser)
|
rs142756262
|
0.00016
|
|
NM_000393.5(COL5A2):c.1633C>T (p.Arg545Trp)
|
rs145258293
|
0.00016
|
|
NM_000393.5(COL5A2):c.263C>A (p.Pro88His)
|
rs149877855
|
0.00016
|
|
NM_000400.4(ERCC2):c.601C>T (p.His201Tyr)
|
rs1799792
|
0.00016
|
|
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys)
|
rs137852313
|
0.00016
|
|
NM_000419.5(ITGA2B):c.1394-14C>T
|
rs368062044
|
0.00016
|
|
NM_000419.5(ITGA2B):c.2348+15G>A
|
rs200571001
|
0.00016
|
|
NM_000441.2(SLC26A4):c.1804-6G>A
|
rs377713770
|
0.00016
|
|
NM_000441.2(SLC26A4):c.225C>G (p.Leu75=)
|
rs187447337
|
0.00016
|
|
NM_000443.4(ABCB4):c.366A>G (p.Gly122=)
|
rs113445400
|
0.00016
|
|
NM_000443.4(ABCB4):c.80+5A>C
|
rs186976987
|
0.00016
|
|
NM_000455.5(STK11):c.-461G>A
|
rs552610464
|
0.00016
|
|
NM_000466.3(PEX1):c.627G>A (p.Met209Ile)
|
rs200752969
|
0.00016
|
|
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu)
|
rs200735475
|
0.00016
|
|
NM_000515.5(GH1):c.468T>C (p.Asp156=)
|
rs201849388
|
0.00016
|
|
NM_000516.7(GNAS):c.530+10C>T
|
rs199499878
|
0.00016
|
|
NM_000520.6(HEXA):c.582G>A (p.Ala194=)
|
rs112614306
|
0.00016
|
|
NM_000521.4(HEXB):c.1667T>C (p.Met556Thr)
|
rs140627230
|
0.00016
|
|
NM_000521.4(HEXB):c.1670A>G (p.Ter557=)
|
rs576145664
|
0.00016
|
|
NM_000525.4(KCNJ11):c.1017G>T (p.Val339=)
|
rs770408379
|
0.00016
|
|
NM_000527.5(LDLR):c.1009G>A (p.Glu337Lys)
|
rs539080792
|
0.00016
|
|
NM_000527.5(LDLR):c.564C>T (p.Tyr188=)
|
rs121908034
|
0.00016
|
|
NM_000528.4(MAN2B1):c.1209C>A (p.Arg403=)
|
rs559827776
|
0.00016
|
|
NM_000528.4(MAN2B1):c.2966A>G (p.Asn989Ser)
|
rs753397171
|
0.00016
|
|
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=)
|
rs148945108
|
0.00016
|
|
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met)
|
rs370196722
|
0.00016
|
|
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp)
|
rs375968016
|
0.00016
|
|
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr)
|
rs201343342
|
0.00016
|
|
NM_000536.4(RAG2):c.367C>T (p.Arg123Cys)
|
rs147319483
|
0.00016
|
|
NM_000540.3(RYR1):c.2319C>T (p.Asp773=)
|
rs374924686
|
0.00016
|
|
NM_000540.3(RYR1):c.4257C>T (p.Asn1419=)
|
rs36042816
|
0.00016
|
|
NM_000540.3(RYR1):c.4847C>T (p.Thr1616Met)
|
rs776194441
|
0.00016
|
|
NM_000540.3(RYR1):c.6654C>T (p.Gly2218=)
|
rs149185729
|
0.00016
|
|
NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp)
|
rs144777676
|
0.00016
|
|
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly)
|
rs200950673
|
0.00016
|
|
NM_000540.3(RYR1):c.9796A>C (p.Met3266Leu)
|
rs201588259
|
0.00016
|
|
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val)
|
rs587778397
|
0.00016
|
|
NM_000548.5(TSC2):c.1244C>T (p.Ala415Val)
|
rs374936223
|
0.00016
|
|
NM_000628.5(IL10RB):c.763G>A (p.Ala255Thr)
|
rs182875134
|
0.00016
|
|
NM_000632.4(ITGAM):c.244G>A (p.Val82Met)
|
rs373322978
|
0.00016
|
|
NM_000642.3(AGL):c.1895T>C (p.Ile632Thr)
|
rs138823746
|
0.00016
|
|
NM_000642.3(AGL):c.4575T>A (p.Ile1525=)
|
rs372116308
|
0.00016
|
|
NM_000666.3(ACY1):c.805A>G (p.Met269Val)
|
rs201775925
|
0.00016
|
|
NM_000709.4(BCKDHA):c.420G>A (p.Thr140=)
|
rs143608852
|
0.00016
|
|
NM_000719.7(CACNA1C):c.6344G>C (p.Gly2115Ala)
|
rs199694744
|
0.00016
|
|
NM_000784.4(CYP27A1):c.1184+9G>T
|
rs200457116
|
0.00016
|
|
NM_000784.4(CYP27A1):c.120C>T (p.Ala40=)
|
rs150389057
|
0.00016
|
|
NM_001002755.4(NFU1):c.62+10G>A
|
rs773351968
|
0.00016
|
|
NM_001005242.3(PKP2):c.176A>T (p.Gln59Leu)
|
rs730880179
|
0.00016
|
|
NM_001005242.3(PKP2):c.336+17T>G
|
rs185681814
|
0.00016
|
|
NM_001009944.3(PKD1):c.9009G>A (p.Ala3003=)
|
rs374619113
|
0.00016
|
|
NM_001018115.3(FANCD2):c.1118C>T (p.Ser373Leu)
|
rs372534421
|
0.00016
|
|
NM_001018115.3(FANCD2):c.1348A>G (p.Ile450Val)
|
rs145129959
|
0.00016
|
|
NM_001024630.4(RUNX2):c.151C>A (p.Gln51Lys)
|
rs368475300
|
0.00016
|
|
NM_001033855.3(DCLRE1C):c.169G>T (p.Val57Phe)
|
rs138077101
|
0.00016
|
|
NM_001034850.3(RETREG1):c.86C>T (p.Pro29Leu)
|
rs528532732
|
0.00016
|
|
NM_001035.3(RYR2):c.10962A>C (p.Glu3654Asp)
|
rs547005691
|
0.00016
|
|
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn)
|
rs193922623
|
0.00016
|
|
NM_001035.3(RYR2):c.2711A>G (p.Tyr904Cys)
|
rs201131315
|
0.00016
|
|
NM_001035.3(RYR2):c.2755G>A (p.Val919Met)
|
rs201079716
|
0.00016
|
|
NM_001035.3(RYR2):c.4445G>A (p.Arg1482His)
|
rs373024059
|
0.00016
|
|
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser)
|
rs185237690
|
0.00016
|
|
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp)
|
rs200420897
|
0.00016
|
|
NM_001040108.2(MLH3):c.713A>C (p.Tyr238Ser)
|
rs144707485
|
0.00016
|
|
NM_001040142.2(SCN2A):c.2389G>A (p.Val797Ile)
|
rs142128956
|
0.00016
|
|
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala)
|
rs147522594
|
0.00016
|
|
NM_001048174.2(MUTYH):c.1483C>T (p.Arg495Cys)
|
rs147480076
|
0.00016
|
|
NM_001060.6(TBXA2R):c.713A>G (p.Asp238Gly)
|
rs201310328
|
0.00016
|
|
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala)
|
rs144338642
|
0.00016
|
|
NM_001082971.2(DDC):c.1435A>G (p.Arg479Gly)
|
rs200450773
|
0.00016
|
|
NM_001083961.2(WDR62):c.189G>T (p.Glu63Asp)
|
rs201053854
|
0.00016
|
|
NM_001083962.2(TCF4):c.1487-5G>A
|
rs749176054
|
0.00016
|
|
NM_001105206.3(LAMA4):c.3175G>A (p.Val1059Met)
|
rs373650093
|
0.00016
|
|
NM_001111.5(ADAR):c.1625A>G (p.Asn542Ser)
|
rs200242235
|
0.00016
|
|
NM_001126108.2(SLC12A3):c.2160C>T (p.Gly720=)
|
rs147984554
|
0.00016
|
|
NM_001126121.2(SLC25A19):c.504C>T (p.Ser168=)
|
rs148474667
|
0.00016
|
|
NM_001127222.2(CACNA1A):c.3016C>T (p.Arg1006Trp)
|
rs757026025
|
0.00016
|
|
NM_001127222.2(CACNA1A):c.5170G>A (p.Asp1724Asn)
|
rs371595464
|
0.00016
|
|
NM_001128228.3(TPRN):c.1966+6T>C
|
rs376962634
|
0.00016
|
|
NM_001130987.2(DYSF):c.225G>A (p.Thr75=)
|
rs200957354
|
0.00016
|
|
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=)
|
rs139983909
|
0.00016
|
|
NM_001130987.2(DYSF):c.5102C>T (p.Thr1701Met)
|
rs143059463
|
0.00016
|
|
NM_001134363.3(RBM20):c.1455A>G (p.Ser485=)
|
rs751559376
|
0.00016
|
|
NM_001134363.3(RBM20):c.2014G>A (p.Gly672Ser)
|
rs730880182
|
0.00016
|
|
NM_001134363.3(RBM20):c.2042A>G (p.Tyr681Cys)
|
rs372048968
|
0.00016
|
|
NM_001134363.3(RBM20):c.2145C>T (p.Pro715=)
|
rs764304126
|
0.00016
|
|
NM_001134363.3(RBM20):c.3004C>G (p.Leu1002Val)
|
rs375355193
|
0.00016
|
|
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met)
|
rs200927282
|
0.00016
|
|
NM_001142800.2(EYS):c.5025T>C (p.Ser1675=)
|
rs995130689
|
0.00016
|
|
NM_001142800.2(EYS):c.5883T>G (p.Thr1961=)
|
rs779530881
|
0.00016
|
|
NM_001142800.2(EYS):c.6732A>G (p.Thr2244=)
|
rs899618893
|
0.00016
|
|
NM_001142864.4(PIEZO1):c.4662C>T (p.Leu1554=)
|
rs751557941
|
0.00016
|
|
NM_001145358.2(SIN3A):c.3670C>T (p.Arg1224Cys)
|
rs142724257
|
0.00016
|
|
NM_001148.6(ANK2):c.9682G>A (p.Val3228Met)
|
rs141013157
|
0.00016
|
|
NM_001160372.4(TRAPPC9):c.2981G>C (p.Ser994Thr)
|
rs377114410
|
0.00016
|
|
NM_001164508.2(NEB):c.20440C>T (p.Arg6814Cys)
|
rs765806782
|
0.00016
|
|
NM_001164508.2(NEB):c.21270G>T (p.Pro7090=)
|
rs368887173
|
0.00016
|
|
NM_001164508.2(NEB):c.21797C>T (p.Pro7266Leu)
|
rs367626762
|
0.00016
|
|
NM_001164508.2(NEB):c.24041T>C (p.Val8014Ala)
|
rs200269437
|
0.00016
|
|
NM_001164508.2(NEB):c.3444G>A (p.Ala1148=)
|
rs375569766
|
0.00016
|
|
NM_001164508.2(NEB):c.3879+8G>A
|
rs376511134
|
0.00016
|
|
NM_001164508.2(NEB):c.5420C>T (p.Ala1807Val)
|
rs373790988
|
0.00016
|
|
NM_001164508.2(NEB):c.7227+13T>G
|
rs373818296
|
0.00016
|
|
NM_001164508.2(NEB):c.8490G>A (p.Arg2830=)
|
rs368217121
|
0.00016
|
|
NM_001165963.4(SCN1A):c.1889G>A (p.Arg630Gln)
|
rs145670933
|
0.00016
|
|
NM_001165963.4(SCN1A):c.4129A>G (p.Ile1377Val)
|
rs762317674
|
0.00016
|
|
NM_001166108.2(PALLD):c.1289G>A (p.Arg430Gln)
|
rs145571230
|
0.00016
|
|
NM_001170629.2(CHD8):c.5665C>T (p.Arg1889Cys)
|
rs201802014
|
0.00016
|
|
NM_001171.6(ABCC6):c.1424A>T (p.His475Leu)
|
rs151187637
|
0.00016
|
|
NM_001171.6(ABCC6):c.1944-8G>A
|
rs373223582
|
0.00016
|
|
NM_001174089.2(SLC4A11):c.1700G>A (p.Gly567Asp)
|
rs139078082
|
0.00016
|
|
NM_001182.5(ALDH7A1):c.393+15T>C
|
rs183254966
|
0.00016
|
|
NM_001191061.2(SLC25A22):c.464G>C (p.Gly155Ala)
|
rs200992080
|
0.00016
|
|
NM_001194998.2(CEP152):c.186C>T (p.Asp62=)
|
rs548567364
|
0.00016
|
|
NM_001194998.2(CEP152):c.3394C>G (p.Gln1132Glu)
|
rs199917740
|
0.00016
|
|
NM_001199563.2(BVES):c.574A>G (p.Asn192Asp)
|
rs145098126
|
0.00016
|
|
NM_001200.4(BMP2):c.1041G>A (p.Thr347=)
|
rs143654141
|
0.00016
|
|
NM_001205293.3(CACNA1E):c.6500G>A (p.Arg2167Gln)
|
rs370385055
|
0.00016
|
|
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu)
|
rs79027628
|
0.00016
|
|
NM_001244008.2(KIF1A):c.4771C>T (p.Arg1591Trp)
|
rs201139273
|
0.00016
|
|
NM_001252024.2(TRPM1):c.2653A>G (p.Ile885Val)
|
rs201650867
|
0.00016
|
|
NM_001256545.2(MEGF10):c.2176G>A (p.Ala726Thr)
|
rs139884665
|
0.00016
|
|
NM_001267550.2(TTN):c.100049C>T (p.Thr33350Ile)
|
rs370300135
|
0.00016
|
|
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu)
|
rs72629783
|
0.00016
|
|
NM_001267550.2(TTN):c.104590C>A (p.Pro34864Thr)
|
rs756640084
|
0.00016
|
|
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln)
|
rs200497615
|
0.00016
|
|
NM_001267550.2(TTN):c.12011A>G (p.Glu4004Gly)
|
rs376000381
|
0.00016
|
|
NM_001267550.2(TTN):c.12145C>T (p.Pro4049Ser)
|
rs201888760
|
0.00016
|
|
NM_001267550.2(TTN):c.12332C>G (p.Ala4111Gly)
|
rs140289517
|
0.00016
|
|
NM_001267550.2(TTN):c.18407G>A (p.Arg6136Gln)
|
rs117551279
|
0.00016
|
|
NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val)
|
rs371826762
|
0.00016
|
|
NM_001267550.2(TTN):c.36019G>C (p.Glu12007Gln)
|
rs761660130
|
0.00016
|
|
NM_001267550.2(TTN):c.42891C>T (p.Gly14297=)
|
rs550471556
|
0.00016
|
|
NM_001267550.2(TTN):c.4291C>T (p.Arg1431Trp)
|
rs139636676
|
0.00016
|
|
NM_001267550.2(TTN):c.43315C>T (p.Arg14439Cys)
|
rs200914097
|
0.00016
|
|
NM_001267550.2(TTN):c.44593G>A (p.Glu14865Lys)
|
rs543102139
|
0.00016
|
|
NM_001267550.2(TTN):c.45979C>T (p.Arg15327Cys)
|
rs367774903
|
0.00016
|
|
NM_001267550.2(TTN):c.51782G>A (p.Arg17261Gln)
|
rs201825412
|
0.00016
|
|
NM_001267550.2(TTN):c.52853G>A (p.Arg17618His)
|
rs371538664
|
0.00016
|
|
NM_001267550.2(TTN):c.53881+5G>A
|
rs753527304
|
0.00016
|
|
NM_001267550.2(TTN):c.54104C>T (p.Ala18035Val)
|
rs182445366
|
0.00016
|
|
NM_001267550.2(TTN):c.54490T>C (p.Tyr18164His)
|
rs370135374
|
0.00016
|
|
NM_001267550.2(TTN):c.54740T>C (p.Met18247Thr)
|
rs200585270
|
0.00016
|
|
NM_001267550.2(TTN):c.55673G>A (p.Arg18558His)
|
rs115867512
|
0.00016
|
|
NM_001267550.2(TTN):c.56456A>G (p.Asn18819Ser)
|
rs201337786
|
0.00016
|
|
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=)
|
rs375006117
|
0.00016
|
|
NM_001267550.2(TTN):c.63109C>T (p.Arg21037Cys)
|
rs191549948
|
0.00016
|
|
NM_001267550.2(TTN):c.63626G>A (p.Arg21209Gln)
|
rs148684589
|
0.00016
|
|
NM_001267550.2(TTN):c.67959T>C (p.Phe22653=)
|
rs72646877
|
0.00016
|
|
NM_001267550.2(TTN):c.68823C>T (p.Tyr22941=)
|
rs200717463
|
0.00016
|
|
NM_001267550.2(TTN):c.72766A>G (p.Asn24256Asp)
|
rs187868672
|
0.00016
|
|
NM_001267550.2(TTN):c.7316G>A (p.Arg2439His)
|
rs142129359
|
0.00016
|
|
NM_001267550.2(TTN):c.79546G>A (p.Gly26516Ser)
|
rs776256093
|
0.00016
|
|
NM_001267550.2(TTN):c.79883G>C (p.Arg26628Pro)
|
rs201091376
|
0.00016
|
|
NM_001267550.2(TTN):c.80417A>G (p.His26806Arg)
|
rs181766682
|
0.00016
|
|
NM_001267550.2(TTN):c.85443A>G (p.Ala28481=)
|
rs373326137
|
0.00016
|
|
NM_001267550.2(TTN):c.87367A>C (p.Ser29123Arg)
|
rs375198596
|
0.00016
|
|
NM_001267550.2(TTN):c.87771C>A (p.Gly29257=)
|
rs72648230
|
0.00016
|
|
NM_001267550.2(TTN):c.87878G>A (p.Arg29293His)
|
rs202001776
|
0.00016
|
|
NM_001267550.2(TTN):c.90793C>T (p.Arg30265Trp)
|
rs200022152
|
0.00016
|
|
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln)
|
rs200141081
|
0.00016
|
|
NM_001267550.2(TTN):c.92696T>C (p.Ile30899Thr)
|
rs373727636
|
0.00016
|
|
NM_001267550.2(TTN):c.92782G>C (p.Asp30928His)
|
rs397517756
|
0.00016
|
|
NM_001267550.2(TTN):c.96138A>T (p.Ile32046=)
|
rs368154623
|
0.00016
|
|
NM_001267550.2(TTN):c.96684C>T (p.Tyr32228=)
|
rs368423941
|
0.00016
|
|
NM_001267550.2(TTN):c.97055G>A (p.Arg32352His)
|
rs575939045
|
0.00016
|
|
NM_001267550.2(TTN):c.9857A>G (p.Lys3286Arg)
|
rs200052398
|
0.00016
|
|
NM_001271.4(CHD2):c.239C>T (p.Pro80Leu)
|
rs186163798
|
0.00016
|
|
NM_001277115.2(DNAH11):c.13346G>A (p.Arg4449His)
|
rs138945257
|
0.00016
|
|
NM_001277115.2(DNAH11):c.13398C>T (p.Pro4466=)
|
rs72658836
|
0.00016
|
|
NM_001288705.3(CSF1R):c.237G>A (p.Thr79=)
|
rs146145627
|
0.00016
|
|
NM_001289125.3(IFNAR2):c.1315G>A (p.Asp439Asn)
|
rs149040664
|
0.00016
|
|
NM_001292063.2(OTOG):c.2294-6C>T
|
rs201721923
|
0.00016
|
|
NM_001292063.2(OTOG):c.371C>T (p.Pro124Leu)
|
rs542646349
|
0.00016
|
|
NM_001303.4(COX10):c.311C>T (p.Pro104Leu)
|
rs202207627
|
0.00016
|
|
NM_001330260.2(SCN8A):c.5795G>C (p.Arg1932Pro)
|
rs371766742
|
0.00016
|
|
NM_001347702.2(SYNE1):c.1446A>G (p.Val482=)
|
rs377088951
|
0.00016
|
|
NM_001349338.3(FOXP1):c.1217C>G (p.Thr406Ser)
|
rs200355554
|
0.00016
|
|
NM_001351132.2(PEX5):c.396T>C (p.Thr132=)
|
rs370827246
|
0.00016
|
|
NM_001354604.2(MITF):c.881-6G>A
|
rs752788538
|
0.00016
|
|
NM_001365088.1(SLC12A6):c.1139G>A (p.Arg380His)
|
rs375887656
|
0.00016
|
|
NM_001365536.1(SCN9A):c.1110G>A (p.Thr370=)
|
rs202002028
|
0.00016
|
|
NM_001367624.2(ZNF469):c.4571T>G (p.Leu1524Arg)
|
rs111916311
|
0.00016
|
|
NM_001367624.2(ZNF469):c.8252C>T (p.Ser2751Leu)
|
rs376638940
|
0.00016
|
|
NM_001369.3(DNAH5):c.10789G>T (p.Ala3597Ser)
|
rs368959723
|
0.00016
|
|
NM_001369.3(DNAH5):c.574G>A (p.Ala192Thr)
|
rs140700961
|
0.00016
|
|
NM_001369369.1(FOXN1):c.1886C>T (p.Thr629Met)
|
rs368962978
|
0.00016
|
|
NM_001371333.1(DIABLO):c.179C>T (p.Ala60Val)
|
rs199898020
|
0.00016
|
|
NM_001376.5(DYNC1H1):c.13385G>A (p.Arg4462Gln)
|
rs376608392
|
0.00016
|
|
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=)
|
rs117846737
|
0.00016
|
|
NM_001376.5(DYNC1H1):c.8502A>G (p.Gln2834=)
|
rs146220233
|
0.00016
|
|
NM_001377.3(DYNC2H1):c.5313A>G (p.Val1771=)
|
rs144553338
|
0.00016
|
|
NM_001378030.1(CCDC78):c.268-3C>T
|
rs371386354
|
0.00016
|
|
NM_001378452.1(ITPR1):c.4843-7G>A
|
rs184969640
|
0.00016
|
|
NM_001378454.1(ALMS1):c.11328C>T (p.His3776=)
|
rs45596541
|
0.00016
|
|
NM_001378964.1(CDON):c.3754G>C (p.Asp1252His)
|
rs150974313
|
0.00016
|
|
NM_001384140.1(PCDH15):c.4103A>G (p.Glu1368Gly)
|
rs111033449
|
0.00016
|
|
NM_001384474.1(LOXHD1):c.5985C>T (p.Asp1995=)
|
rs559560065
|
0.00016
|
|
NM_001384474.1(LOXHD1):c.6462C>G (p.Val2154=)
|
rs141737883
|
0.00016
|
|
NM_001384732.1(CPLANE1):c.4388C>T (p.Thr1463Ile)
|
rs202103224
|
0.00016
|
|
NM_001429.4(EP300):c.5711A>C (p.Gln1904Pro)
|
rs140187237
|
0.00016
|
|
NM_001458.5(FLNC):c.1081C>T (p.Arg361Cys)
|
rs200206944
|
0.00016
|
|
NM_001458.5(FLNC):c.1108A>G (p.Met370Val)
|
rs370406338
|
0.00016
|
|
NM_001458.5(FLNC):c.1166G>A (p.Gly389Asp)
|
rs763039506
|
0.00016
|
|
NM_001458.5(FLNC):c.2163C>A (p.Asn721Lys)
|
rs370539335
|
0.00016
|
|
NM_001458.5(FLNC):c.2747G>A (p.Arg916Gln)
|
rs143720860
|
0.00016
|
|
NM_001458.5(FLNC):c.4763C>G (p.Ala1588Gly)
|
rs148545460
|
0.00016
|
|
NM_001482.3(GATM):c.692C>G (p.Ser231Cys)
|
rs202225656
|
0.00016
|
|
NM_001844.5(COL2A1):c.1023+3G>A
|
rs374570848
|
0.00016
|
|
NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp)
|
rs201646745
|
0.00016
|
|
NM_001846.4(COL4A2):c.2185G>A (p.Gly729Arg)
|
rs201058867
|
0.00016
|
|
NM_001846.4(COL4A2):c.3257C>T (p.Ala1086Val)
|
rs370679299
|
0.00016
|
|
NM_001848.3(COL6A1):c.1398+10G>A
|
rs143438559
|
0.00016
|
|
NM_001848.3(COL6A1):c.429-8C>T
|
rs768951384
|
0.00016
|
|
NM_001849.4(COL6A2):c.1129C>T (p.Arg377Cys)
|
rs144801620
|
0.00016
|
|
NM_001849.4(COL6A2):c.786C>G (p.Gly262=)
|
rs145500808
|
0.00016
|
|
NM_001851.6(COL9A1):c.80G>A (p.Arg27His)
|
rs150026024
|
0.00016
|
|
NM_001853.4(COL9A3):c.1730G>A (p.Arg577Gln)
|
rs140377811
|
0.00016
|
|
NM_001853.4(COL9A3):c.763C>T (p.Pro255Ser)
|
rs201294093
|
0.00016
|
|
NM_001927.4(DES):c.643G>A (p.Val215Met)
|
rs144908941
|
0.00016
|
|
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg)
|
rs201564919
|
0.00016
|
|
NM_001985.3(ETFB):c.577G>A (p.Ala193Thr)
|
rs200186078
|
0.00016
|
|
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn)
|
rs199826380
|
0.00016
|
|
NM_002234.4(KCNA5):c.1672G>A (p.Gly558Arg)
|
rs201328038
|
0.00016
|
|
NM_002234.4(KCNA5):c.36T>C (p.Gly12=)
|
rs886049572
|
0.00016
|
|
NM_002241.5(KCNJ10):c.219G>A (p.Ala73=)
|
rs144495959
|
0.00016
|
|
NM_002292.4(LAMB2):c.1797C>T (p.Phe599=)
|
rs376785056
|
0.00016
|
|
NM_002335.4(LRP5):c.1299C>T (p.Thr433=)
|
rs145362529
|
0.00016
|
|
NM_002386.4(MC1R):c.492C>T (p.Ala164=)
|
rs367985661
|
0.00016
|
|
NM_002439.5(MSH3):c.3174A>G (p.Gln1058=)
|
rs758314489
|
0.00016
|
|
NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr)
|
rs397516775
|
0.00016
|
|
NM_002473.6(MYH9):c.4556G>A (p.Ser1519Asn)
|
rs138193963
|
0.00016
|
|
NM_002474.3(MYH11):c.3291C>T (p.Ala1097=)
|
rs147605116
|
0.00016
|
|
NM_002474.3(MYH11):c.3309C>T (p.Ile1103=)
|
rs370854451
|
0.00016
|
|
NM_002474.3(MYH11):c.3932C>T (p.Ala1311Val)
|
rs185720909
|
0.00016
|
|
NM_002474.3(MYH11):c.5094C>T (p.Ala1698=)
|
rs771742318
|
0.00016
|
|
NM_002485.5(NBN):c.1343A>T (p.Gln448Leu)
|
rs146403088
|
0.00016
|
|
NM_002633.3(PGM1):c.1600-3C>T
|
rs375450688
|
0.00016
|
|
NM_002633.3(PGM1):c.900T>C (p.His300=)
|
rs145807501
|
0.00016
|
|
NM_002691.4(POLD1):c.2185G>A (p.Glu729Lys)
|
rs200931999
|
0.00016
|
|
NM_002691.4(POLD1):c.353C>T (p.Ser118Phe)
|
rs780604625
|
0.00016
|
|
NM_002693.3(POLG):c.186A>G (p.Leu62=)
|
rs745310138
|
0.00016
|
|
NM_002693.3(POLG):c.32G>A (p.Gly11Asp)
|
rs765472726
|
0.00016
|
|
NM_002778.4(PSAP):c.*376A>G
|
rs141906397
|
0.00016
|
|
NM_002778.4(PSAP):c.*737G>A
|
rs147046509
|
0.00016
|
|
NM_002857.4(PEX19):c.21C>G (p.Gly7=)
|
rs140039683
|
0.00016
|
|
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln)
|
rs145611571
|
0.00016
|
|
NM_002972.4(SBF1):c.3985G>A (p.Ala1329Thr)
|
rs372950672
|
0.00016
|
|
NM_003052.5(SLC34A1):c.1348G>A (p.Gly450Ser)
|
rs34044544
|
0.00016
|
|
NM_003060.4(SLC22A5):c.115T>G (p.Ser39Ala)
|
rs544332057
|
0.00016
|
|
NM_003060.4(SLC22A5):c.904A>G (p.Lys302Glu)
|
rs75783492
|
0.00016
|
|
NM_003126.4(SPTA1):c.3841C>T (p.Arg1281Cys)
|
rs199685020
|
0.00016
|
|
NM_003172.4(SURF1):c.745A>G (p.Asn249Asp)
|
rs587669420
|
0.00016
|
|
NM_003193.5(TBCE):c.847A>T (p.Ile283Phe)
|
rs200022583
|
0.00016
|
|
NM_003482.4(KMT2D):c.1010C>T (p.Ser337Leu)
|
rs200245957
|
0.00016
|
|
NM_003482.4(KMT2D):c.11043G>A (p.Gln3681=)
|
rs371444130
|
0.00016
|
|
NM_003482.4(KMT2D):c.6264C>T (p.Thr2088=)
|
rs370414767
|
0.00016
|
|
NM_003482.4(KMT2D):c.8579G>A (p.Arg2860His)
|
rs377747403
|
0.00016
|
|
NM_003560.4(PLA2G6):c.564C>T (p.Thr188=)
|
rs185396488
|
0.00016
|
|
NM_003722.5(TP63):c.992+10G>A
|
rs373106660
|
0.00016
|
|
NM_003803.4(MYOM1):c.1204C>T (p.Arg402Trp)
|
rs371754365
|
0.00016
|
|
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys)
|
rs150529554
|
0.00016
|
|
NM_004006.3(DMD):c.1761A>G (p.Thr587=)
|
rs370103963
|
0.00016
|
|
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr)
|
rs201302282
|
0.00016
|
|
NM_004006.3(DMD):c.8212T>C (p.Trp2738Arg)
|
rs372600090
|
0.00016
|
|
NM_004168.4(SDHA):c.955A>C (p.Ile319Leu)
|
rs377509915
|
0.00016
|
|
NM_004204.5(PIGQ):c.1501C>T (p.Leu501Phe)
|
rs149175905
|
0.00016
|
|
NM_004260.4(RECQL4):c.1391-4G>T
|
rs190388213
|
0.00016
|
|
NM_004281.4(BAG3):c.1588G>A (p.Val530Met)
|
rs144678100
|
0.00016
|
|
NM_004281.4(BAG3):c.653G>A (p.Arg218Gln)
|
rs201638005
|
0.00016
|
|
NM_004304.5(ALK):c.2149G>A (p.Glu717Lys)
|
rs147858673
|
0.00016
|
|
NM_004360.5(CDH1):c.1568A>G (p.Tyr523Cys)
|
rs553907248
|
0.00016
|
|
NM_004385.5(VCAN):c.221A>G (p.Asn74Ser)
|
rs144766017
|
0.00016
|
|
NM_004385.5(VCAN):c.7065C>T (p.Ile2355=)
|
rs727504214
|
0.00016
|
|
NM_004393.6(DAG1):c.1719C>T (p.His573=)
|
rs146157416
|
0.00016
|
|
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu)
|
rs141834182
|
0.00016
|
|
NM_004415.4(DSP):c.4775A>G (p.Lys1592Arg)
|
rs200421954
|
0.00016
|
|
NM_004415.4(DSP):c.8482G>A (p.Gly2828Ser)
|
rs369682599
|
0.00016
|
|
NM_004415.4(DSP):c.943C>T (p.Arg315Cys)
|
rs200476515
|
0.00016
|
|
NM_004525.3(LRP2):c.12687T>C (p.Gly4229=)
|
rs140195786
|
0.00016
|
|
NM_004525.3(LRP2):c.5155G>C (p.Gly1719Arg)
|
rs144054579
|
0.00016
|
|
NM_004813.4(PEX16):c.999C>T (p.Tyr333=)
|
rs146657010
|
0.00016
|
|
NM_004990.4(MARS1):c.2138G>A (p.Arg713Gln)
|
rs200011880
|
0.00016
|
|
NM_004990.4(MARS1):c.661G>A (p.Glu221Lys)
|
rs200334446
|
0.00016
|
|
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu)
|
rs201044262
|
0.00016
|
|
NM_005045.4(RELN):c.2376T>C (p.Gly792=)
|
rs398124191
|
0.00016
|
|
NM_005045.4(RELN):c.8212C>T (p.Arg2738Trp)
|
rs202166176
|
0.00016
|
|
NM_005245.4(FAT1):c.11720A>G (p.Asn3907Ser)
|
rs200662687
|
0.00016
|
|
NM_005257.6(GATA6):c.271C>T (p.Pro91Ser)
|
rs766886560
|
0.00016
|
|
NM_005271.5(GLUD1):c.1402+10G>A
|
rs202067232
|
0.00016
|
|
NM_005357.4(LIPE):c.2166G>A (p.Ala722=)
|
rs371435924
|
0.00016
|
|
NM_005379.4(MYO1A):c.2684T>C (p.Met895Thr)
|
rs148582008
|
0.00016
|
|
NM_005422.4(TECTA):c.3236A>G (p.Asp1079Gly)
|
rs562735582
|
0.00016
|
|
NM_005431.2(XRCC2):c.283A>G (p.Ile95Val)
|
rs140214637
|
0.00016
|
|
NM_005502.4(ABCA1):c.4773+6C>T
|
rs368667473
|
0.00016
|
|
NM_005529.7(HSPG2):c.7438C>T (p.Arg2480Trp)
|
rs143437991
|
0.00016
|
|
NM_005562.3(LAMC2):c.503+6T>C
|
rs375623003
|
0.00016
|
|
NM_005591.4(MRE11):c.1643T>C (p.Ile548Thr)
|
rs373522639
|
0.00016
|
|
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp)
|
rs190548494
|
0.00016
|
|
NM_005609.4(PYGM):c.951C>T (p.Phe317=)
|
rs71581789
|
0.00016
|
|
NM_005633.4(SOS1):c.2966G>A (p.Arg989Lys)
|
rs202043599
|
0.00016
|
|
NM_005633.4(SOS1):c.3706C>A (p.Pro1236Thr)
|
rs727504636
|
0.00016
|
|
NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala)
|
rs371408734
|
0.00016
|
|
NM_005902.4(SMAD3):c.636G>A (p.Met212Ile)
|
rs202094530
|
0.00016
|
|
NM_005902.4(SMAD3):c.984G>A (p.Pro328=)
|
rs150994304
|
0.00016
|
|
NM_005996.4(TBX3):c.1080G>C (p.Glu360Asp)
|
rs376189812
|
0.00016
|
|
NM_006015.6(ARID1A):c.2718C>G (p.Asn906Lys)
|
rs201864573
|
0.00016
|
|
NM_006031.6(PCNT):c.6150+3G>A
|
rs760779996
|
0.00016
|
|
NM_006031.6(PCNT):c.6800C>T (p.Ser2267Leu)
|
rs548287016
|
0.00016
|
|
NM_006031.6(PCNT):c.8401G>C (p.Val2801Leu)
|
rs138868039
|
0.00016
|
|
NM_006031.6(PCNT):c.8528T>G (p.Leu2843Arg)
|
rs569737144
|
0.00016
|
|
NM_006031.6(PCNT):c.9840-4G>A
|
rs199857861
|
0.00016
|
|
NM_006118.4(HAX1):c.593C>T (p.Pro198Leu)
|
rs146152769
|
0.00016
|
|
NM_006182.4(DDR2):c.1153A>T (p.Thr385Ser)
|
rs749852883
|
0.00016
|
|
NM_006231.4(POLE):c.154C>T (p.Arg52Trp)
|
rs115452881
|
0.00016
|
|
NM_006231.4(POLE):c.3245G>A (p.Arg1082His)
|
rs201744227
|
0.00016
|
|
NM_006231.4(POLE):c.3862G>A (p.Ala1288Thr)
|
rs200398117
|
0.00016
|
|
NM_006269.2(RP1):c.3101A>T (p.His1034Leu)
|
rs148296108
|
0.00016
|
|
NM_006348.5(COG5):c.454T>C (p.Leu152=)
|
rs200107630
|
0.00016
|
|
NM_006371.5(CRTAP):c.654C>T (p.Asn218=)
|
rs144486582
|
0.00016
|
|
NM_006506.5(RASA2):c.1960G>A (p.Val654Ile)
|
rs150847466
|
0.00016
|
|
NM_006514.4(SCN10A):c.365C>T (p.Thr122Met)
|
rs142884499
|
0.00016
|
|
NM_006514.4(SCN10A):c.4607C>G (p.Thr1536Arg)
|
rs778754301
|
0.00016
|
|
NM_006516.4(SLC2A1):c.972+7del
|
rs531385270
|
0.00016
|
|
NM_006623.4(PHGDH):c.1257G>A (p.Gly419=)
|
rs374303746
|
0.00016
|
|
NM_006662.3(SRCAP):c.7723T>A (p.Ser2575Thr)
|
rs368587038
|
0.00016
|
|
NM_006757.4(TNNT3):c.480+9C>T
|
rs374137056
|
0.00016
|
|
NM_006796.3(AFG3L2):c.536A>G (p.Tyr179Cys)
|
rs368594369
|
0.00016
|
|
NM_006904.7(PRKDC):c.3898A>G (p.Ser1300Gly)
|
rs368949953
|
0.00016
|
|
NM_006904.7(PRKDC):c.5572-4G>A
|
rs367584015
|
0.00016
|
|
NM_006915.3(RP2):c.30G>A (p.Lys10=)
|
rs782402689
|
0.00016
|
|
NM_006939.4(SOS2):c.599A>G (p.Tyr200Cys)
|
rs148595463
|
0.00016
|
|
NM_006946.4(SPTBN2):c.3374G>A (p.Arg1125Gln)
|
rs375601930
|
0.00016
|
|
NM_006946.4(SPTBN2):c.5495T>G (p.Leu1832Arg)
|
rs202081167
|
0.00016
|
|
NM_006949.4(STXBP2):c.1027-10C>T
|
rs201961771
|
0.00016
|
|
NM_006949.4(STXBP2):c.953C>T (p.Thr318Met)
|
rs201293382
|
0.00016
|
|
NM_007078.3(LDB3):c.690-4621A>G
|
rs370053163
|
0.00016
|
|
NM_007118.4(TRIO):c.7922A>C (p.Lys2641Thr)
|
rs200539540
|
0.00016
|
|
NM_007215.4(POLG2):c.674G>A (p.Arg225Gln)
|
rs148101254
|
0.00016
|
|
NM_007254.4(PNKP):c.1413T>C (p.His471=)
|
rs370017666
|
0.00016
|
|
NM_007289.4(MME):c.445A>G (p.Ile149Val)
|
rs200157166
|
0.00016
|
|
NM_007294.4(BRCA1):c.-61C>T
|
rs549332987
|
0.00016
|
|
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu)
|
rs80357201
|
0.00016
|
|
NM_007294.4(BRCA1):c.4410A>T (p.Glu1470Asp)
|
rs80357075
|
0.00016
|
|
NM_012062.5(DNM1L):c.1356+6G>A
|
rs201894145
|
0.00016
|
|
NM_012062.5(DNM1L):c.2151A>G (p.Leu717=)
|
rs149256584
|
0.00016
|
|
NM_012203.2(GRHPR):c.343G>A (p.Ala115Thr)
|
rs113602485
|
0.00016
|
|
NM_012216.4(MID2):c.2144G>A (p.Arg715Gln)
|
rs370198556
|
0.00016
|
|
NM_012232.6(CAVIN1):c.*10G>A
|
rs200409122
|
0.00016
|
|
NM_012470.4(TNPO3):c.30C>T (p.Leu10=)
|
rs138263703
|
0.00016
|
|
NM_013382.7(POMT2):c.1206A>C (p.Pro402=)
|
rs142479943
|
0.00016
|
|
NM_014008.5(CCDC22):c.427G>A (p.Val143Ile)
|
rs145976849
|
0.00016
|
|
NM_014141.6(CNTNAP2):c.3600G>A (p.Ser1200=)
|
rs117876038
|
0.00016
|
|
NM_014244.5(ADAMTS2):c.3449A>G (p.Asn1150Ser)
|
rs200982805
|
0.00016
|
|
NM_014363.6(SACS):c.11703T>C (p.Asn3901=)
|
rs146154135
|
0.00016
|
|
NM_014363.6(SACS):c.12765G>A (p.Arg4255=)
|
rs139692779
|
0.00016
|
|
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr)
|
rs76872266
|
0.00016
|
|
NM_014363.6(SACS):c.4302A>G (p.Leu1434=)
|
rs34559250
|
0.00016
|
|
NM_014813.3(LRIG2):c.1648C>T (p.Arg550Cys)
|
rs201326654
|
0.00016
|
|
NM_014855.3(AP5Z1):c.1965G>A (p.Ser655=)
|
rs543467648
|
0.00016
|
|
NM_015046.7(SETX):c.6013G>A (p.Val2005Met)
|
rs148568105
|
0.00016
|
|
NM_015215.4(CAMTA1):c.1559G>A (p.Arg520Gln)
|
rs138288107
|
0.00016
|
|
NM_015272.5(RPGRIP1L):c.3616+7A>G
|
rs373003699
|
0.00016
|
|
NM_015330.6(SPECC1L):c.1399C>T (p.Arg467Cys)
|
rs145506280
|
0.00016
|
|
NM_015909.4(NBAS):c.5983C>G (p.Arg1995Gly)
|
rs767134813
|
0.00016
|
|
NM_015972.4(POLR1D):c.177C>T (p.Ile59=)
|
rs144597856
|
0.00016
|
|
NM_016219.5(MAN1B1):c.1312C>T (p.Leu438=)
|
rs150942110
|
0.00016
|
|
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp)
|
rs185873402
|
0.00016
|
|
NM_016239.4(MYO15A):c.850G>A (p.Glu284Lys)
|
rs201006627
|
0.00016
|
|
NM_016356.5(DCDC2):c.1066G>A (p.Ala356Thr)
|
rs183480366
|
0.00016
|
|
NM_016729.3(FOLR1):c.357+8T>A
|
rs886042924
|
0.00016
|
|
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=)
|
rs142509316
|
0.00016
|
|
NM_017617.5(NOTCH1):c.3011C>T (p.Ser1004Leu)
|
rs201163739
|
0.00016
|
|
NM_017654.4(SAMD9):c.662G>A (p.Arg221Gln)
|
rs148603551
|
0.00016
|
|
NM_017780.4(CHD7):c.1046A>G (p.Asn349Ser)
|
rs200644351
|
0.00016
|
|
NM_017841.4(SDHAF2):c.331G>A (p.Glu111Lys)
|
rs145616631
|
0.00016
|
|
NM_017950.4(CCDC40):c.2227G>A (p.Glu743Lys)
|
rs201166295
|
0.00016
|
|
NM_018127.7(ELAC2):c.347C>T (p.Ser116Phe)
|
rs140665334
|
0.00016
|
|
NM_018136.5(ASPM):c.1980C>T (p.Ile660=)
|
rs151087446
|
0.00016
|
|
NM_018344.6(SLC29A3):c.987C>T (p.Asn329=)
|
rs147814367
|
0.00016
|
|
NM_018444.4(PDP1):c.1558A>G (p.Ile520Val)
|
rs202145000
|
0.00016
|
|
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)
|
rs139003032
|
0.00016
|
|
NM_019032.6(ADAMTSL4):c.2120C>T (p.Ala707Val)
|
rs200834788
|
0.00016
|
|
NM_019098.5(CNGB3):c.474C>T (p.Pro158=)
|
rs151230930
|
0.00016
|
|
NM_020247.5(COQ8A):c.730+7C>T
|
rs370924314
|
0.00016
|
|
NM_020297.4(ABCC9):c.1909G>A (p.Val637Ile)
|
rs113542001
|
0.00016
|
|
NM_020297.4(ABCC9):c.3669G>A (p.Thr1223=)
|
rs146942382
|
0.00016
|
|
NM_020297.4(ABCC9):c.4512+765C>T
|
rs142875103
|
0.00016
|
|
NM_020320.5(RARS2):c.213+5G>A
|
rs369852737
|
0.00016
|
|
NM_020549.5(CHAT):c.2212A>G (p.Lys738Glu)
|
rs142285373
|
0.00016
|
|
NM_020745.4(AARS2):c.2471T>C (p.Ile824Thr)
|
rs146765163
|
0.00016
|
|
NM_020771.4(HACE1):c.1075-3C>T
|
rs202110306
|
0.00016
|
|
NM_020831.6(MRTFA):c.325G>A (p.Ala109Thr)
|
rs181447706
|
0.00016
|
|
NM_020937.4(FANCM):c.4709G>A (p.Arg1570His)
|
rs201803784
|
0.00016
|
|
NM_021076.4(NEFH):c.1575G>C (p.Lys525Asn)
|
rs149183166
|
0.00016
|
|
NM_021615.5(CHST6):c.301C>T (p.Leu101=)
|
rs373160858
|
0.00016
|
|
NM_021625.5(TRPV4):c.281C>T (p.Ser94Leu)
|
rs201927283
|
0.00016
|
|
NM_021912.5(GABRB3):c.44C>T (p.Ser15Phe)
|
rs121913126
|
0.00016
|
|
NM_022042.4(SLC26A1):c.760C>T (p.Arg254Cys)
|
rs370834972
|
0.00016
|
|
NM_022095.4(ZNF335):c.3639C>T (p.Thr1213=)
|
rs191074858
|
0.00016
|
|
NM_022095.4(ZNF335):c.3843A>G (p.Pro1281=)
|
rs35291173
|
0.00016
|
|
NM_022124.6(CDH23):c.2176+12C>T
|
rs371967419
|
0.00016
|
|
NM_022124.6(CDH23):c.6050-10C>T
|
rs560760228
|
0.00016
|
|
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys)
|
rs201727938
|
0.00016
|
|
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser)
|
rs373932824
|
0.00016
|
|
NM_022489.4(INF2):c.2053A>G (p.Ile685Val)
|
rs199526439
|
0.00016
|
|
NM_023036.6(DNAI2):c.1146G>A (p.Thr382=)
|
rs142571722
|
0.00016
|
|
NM_023110.3(FGFR1):c.1269G>A (p.Leu423=)
|
rs144131616
|
0.00016
|
|
NM_024009.3(GJB3):c.334C>A (p.Gln112Lys)
|
rs544836576
|
0.00016
|
|
NM_024306.5(FA2H):c.1112C>T (p.Thr371Met)
|
rs141854925
|
0.00016
|
|
NM_024422.6(DSC2):c.1766T>C (p.Met589Thr)
|
rs201856473
|
0.00016
|
|
NM_024422.6(DSC2):c.2471C>T (p.Ser824Leu)
|
rs143413607
|
0.00016
|
|
NM_024675.4(PALB2):c.1564C>T (p.Pro522Ser)
|
rs373876101
|
0.00016
|
|
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp)
|
rs183489969
|
0.00016
|
|
NM_024753.5(TTC21B):c.3131G>A (p.Arg1044Gln)
|
rs140908725
|
0.00016
|
|
NM_024876.4(COQ8B):c.826G>C (p.Ala276Pro)
|
rs200480831
|
0.00016
|
|
NM_025074.7(FRAS1):c.9356A>G (p.Asn3119Ser)
|
rs191105001
|
0.00016
|
|
NM_025114.4(CEP290):c.3955T>C (p.Leu1319=)
|
rs182851622
|
0.00016
|
|
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu)
|
rs200817579
|
0.00016
|
|
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys)
|
rs202159966
|
0.00016
|
|
NM_025137.4(SPG11):c.2169C>T (p.Gly723=)
|
rs371338650
|
0.00016
|
|
NM_025137.4(SPG11):c.4490A>G (p.Asn1497Ser)
|
rs747973076
|
0.00016
|
|
NM_025137.4(SPG11):c.5315G>A (p.Arg1772His)
|
rs150823040
|
0.00016
|
|
NM_025137.4(SPG11):c.979C>G (p.Leu327Val)
|
rs146109825
|
0.00016
|
|
NM_025216.3(WNT10A):c.1017C>T (p.Phe339=)
|
rs531326479
|
0.00016
|
|
NM_030665.4(RAI1):c.1476C>T (p.Pro492=)
|
rs200887225
|
0.00016
|
|
NM_030665.4(RAI1):c.4693G>A (p.Val1565Met)
|
rs368106957
|
0.00016
|
|
NM_030777.4(SLC2A10):c.780C>T (p.Ser260=)
|
rs181500247
|
0.00016
|
|
NM_031475.3(ESPN):c.1403A>G (p.Asp468Gly)
|
rs145306517
|
0.00016
|
|
NM_031475.3(ESPN):c.2215C>G (p.Leu739Val)
|
rs368795540
|
0.00016
|
|
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys)
|
rs201869624
|
0.00016
|
|
NM_032119.4(ADGRV1):c.10228G>A (p.Val3410Met)
|
rs1996552
|
0.00016
|
|
NM_032119.4(ADGRV1):c.1056G>A (p.Pro352=)
|
rs115239207
|
0.00016
|
|
NM_032119.4(ADGRV1):c.14575G>A (p.Gly4859Ser)
|
rs747275713
|
0.00016
|
|
NM_032119.4(ADGRV1):c.17613G>A (p.Gln5871=)
|
rs371091564
|
0.00016
|
|
NM_032119.4(ADGRV1):c.18754G>A (p.Asp6252Asn)
|
rs201800819
|
0.00016
|
|
NM_032380.5(GFM2):c.930+4A>G
|
rs184732617
|
0.00016
|
|
NM_032578.4(MYPN):c.392G>T (p.Ser131Ile)
|
rs199853307
|
0.00016
|
|
NM_032634.4(PIGO):c.1132C>T (p.Leu378Phe)
|
rs746870615
|
0.00016
|
|
NM_032737.4(LMNB2):c.1406C>T (p.Ser469Leu)
|
rs369942106
|
0.00016
|
|
NM_033004.4(NLRP1):c.2142C>G (p.His714Gln)
|
rs147100948
|
0.00016
|
|
NM_033118.4(MYLK2):c.157G>A (p.Asp53Asn)
|
rs200204126
|
0.00016
|
|
NM_052813.5(CARD9):c.1260G>A (p.Thr420=)
|
rs142757984
|
0.00016
|
|
NM_053013.4(ENO3):c.249C>T (p.Ser83=)
|
rs145859308
|
0.00016
|
|
NM_053025.4(MYLK):c.1569C>T (p.Cys523=)
|
rs150378280
|
0.00016
|
|
NM_053025.4(MYLK):c.4293G>A (p.Pro1431=)
|
rs370153686
|
0.00016
|
|
NM_054012.4(ASS1):c.174+4C>A
|
rs368133957
|
0.00016
|
|
NM_054027.6(ANKH):c.846A>G (p.Thr282=)
|
rs139013878
|
0.00016
|
|
NM_058216.3(RAD51C):c.744T>C (p.Phe248=)
|
rs150142859
|
0.00016
|
|
NM_080680.3(COL11A2):c.2254G>A (p.Val752Met)
|
rs201076557
|
0.00016
|
|
NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val)
|
rs376797260
|
0.00016
|
|
NM_080680.3(COL11A2):c.4863+7G>A
|
rs200947059
|
0.00016
|
|
NM_080916.3(DGUOK):c.366G>C (p.Gln122His)
|
rs199645258
|
0.00016
|
|
NM_133379.5(TTN):c.12524C>A (p.Ser4175Tyr)
|
rs72647899
|
0.00016
|
|
NM_133433.4(NIPBL):c.2903A>G (p.Asn968Ser)
|
rs180747605
|
0.00016
|
|
NM_133497.4(KCNV2):c.1196C>T (p.Ala399Val)
|
rs200444639
|
0.00016
|
|
NM_133642.5(LARGE1):c.1892C>T (p.Thr631Met)
|
rs368043810
|
0.00016
|
|
NM_138694.4(PKHD1):c.2006G>A (p.Arg669His)
|
rs200497761
|
0.00016
|
|
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=)
|
rs200511208
|
0.00016
|
|
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=)
|
rs138989655
|
0.00016
|
|
NM_138694.4(PKHD1):c.4447G>A (p.Glu1483Lys)
|
rs146745096
|
0.00016
|
|
NM_138694.4(PKHD1):c.633G>A (p.Gly211=)
|
rs144025892
|
0.00016
|
|
NM_139343.3(BIN1):c.1003-13C>T
|
rs374490688
|
0.00016
|
|
NM_144573.4(NEXN):c.893C>G (p.Thr298Arg)
|
rs200753280
|
0.00016
|
|
NM_144596.4(TTC8):c.1463C>T (p.Ala488Val)
|
rs199649536
|
0.00016
|
|
NM_144670.6(A2ML1):c.1066C>T (p.Pro356Ser)
|
rs753186530
|
0.00016
|
|
NM_144997.7(FLCN):c.113G>T (p.Ser38Ile)
|
rs139418842
|
0.00016
|
|
NM_145200.5(CABP4):c.242C>T (p.Ala81Val)
|
rs148140510
|
0.00016
|
|
NM_145200.5(CABP4):c.605C>T (p.Thr202Met)
|
rs150929930
|
0.00016
|
|
NM_152383.5(DIS3L2):c.2424G>A (p.Gln808=)
|
rs369113667
|
0.00016
|
|
NM_152564.5(VPS13B):c.11656G>A (p.Val3886Ile)
|
rs141793014
|
0.00016
|
|
NM_152564.5(VPS13B):c.2471C>T (p.Ser824Phe)
|
rs145419141
|
0.00016
|
|
NM_152564.5(VPS13B):c.3083-9C>T
|
rs376659281
|
0.00016
|
|
NM_152564.5(VPS13B):c.5607G>A (p.Thr1869=)
|
rs368851580
|
0.00016
|
|
NM_152564.5(VPS13B):c.6530G>A (p.Arg2177His)
|
rs147099791
|
0.00016
|
|
NM_152783.5(D2HGDH):c.768C>T (p.Ile256=)
|
rs377034676
|
0.00016
|
|
NM_153033.5(KCTD7):c.133C>T (p.Leu45=)
|
rs587780370
|
0.00016
|
|
NM_170707.4(LMNA):c.1656C>T (p.Asp552=)
|
rs370219874
|
0.00016
|
|
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn)
|
rs373671419
|
0.00016
|
|
NM_170707.4(LMNA):c.895A>G (p.Ile299Val)
|
rs150924946
|
0.00016
|
|
NM_172364.5(CACNA2D4):c.2516C>T (p.Ala839Val)
|
rs146752598
|
0.00016
|
|
NM_173660.5(DOK7):c.957C>G (p.Pro319=)
|
rs777573281
|
0.00016
|
|
NM_174878.3(CLRN1):c.226T>C (p.Leu76=)
|
rs139829306
|
0.00016
|
|
NM_177438.3(DICER1):c.3553G>A (p.Ala1185Thr)
|
rs150514959
|
0.00016
|
|
NM_181332.3(NLGN4X):c.2360C>T (p.Thr787Met)
|
rs4995611
|
0.00016
|
|
NM_182760.4(SUMF1):c.606G>A (p.Pro202=)
|
rs141957829
|
0.00016
|
|
NM_182961.4(SYNE1):c.11594C>T (p.Thr3865Met)
|
rs202173395
|
0.00016
|
|
NM_194248.3(OTOF):c.2590C>T (p.Arg864Cys)
|
rs150070091
|
0.00016
|
|
NM_198334.3(GANAB):c.1210C>T (p.Arg404Trp)
|
rs143499716
|
0.00016
|
|
NM_201384.3(PLEC):c.12444G>A (p.Thr4148=)
|
rs143548638
|
0.00016
|
|
NM_201384.3(PLEC):c.2535C>T (p.Ser845=)
|
rs199721954
|
0.00016
|
|
NM_201384.3(PLEC):c.4446G>A (p.Ala1482=)
|
rs782202249
|
0.00016
|
|
NM_201384.3(PLEC):c.4676G>A (p.Arg1559Gln)
|
rs371895113
|
0.00016
|
|
NM_201384.3(PLEC):c.4800C>T (p.His1600=)
|
rs149044728
|
0.00016
|
|
NM_201384.3(PLEC):c.5029G>A (p.Gly1677Ser)
|
rs373952777
|
0.00016
|
|
NM_201384.3(PLEC):c.7369C>T (p.Arg2457Cys)
|
rs200652637
|
0.00016
|
|
NM_201384.3(PLEC):c.7703G>A (p.Arg2568His)
|
rs552039931
|
0.00016
|
|
NM_201384.3(PLEC):c.9692G>A (p.Arg3231His)
|
rs377610697
|
0.00016
|
|
NM_206933.4(USH2A):c.11734G>A (p.Glu3912Lys)
|
rs142617606
|
0.00016
|
|
NM_206933.4(USH2A):c.12399G>A (p.Glu4133=)
|
rs150406015
|
0.00016
|
|
NM_206933.4(USH2A):c.9037G>A (p.Ala3013Thr)
|
rs149813671
|
0.00016
|
|
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr)
|
rs528342000
|
0.00016
|
|
NM_206933.4(USH2A):c.9871G>A (p.Gly3291Ser)
|
rs138543813
|
0.00016
|
|
NM_000021.4(PSEN1):c.145C>G (p.Pro49Ala)
|
rs200373970
|
0.00015
|
|
NM_000026.4(ADSL):c.247C>T (p.Arg83Cys)
|
rs780425464
|
0.00015
|
|
NM_000026.4(ADSL):c.357+6C>T
|
rs181628906
|
0.00015
|
|
NM_000038.6(APC):c.1606G>A (p.Glu536Lys)
|
rs138098808
|
0.00015
|
|
NM_000038.6(APC):c.6985A>G (p.Ile2329Val)
|
rs146048493
|
0.00015
|
|
NM_000051.4(ATM):c.2887A>G (p.Met963Val)
|
rs374353016
|
0.00015
|
|
NM_000059.4(BRCA2):c.2813C>A (p.Ala938Glu)
|
rs55773834
|
0.00015
|
|
NM_000059.4(BRCA2):c.6560C>T (p.Pro2187Leu)
|
rs56019712
|
0.00015
|
|
NM_000069.3(CACNA1S):c.1903A>G (p.Met635Val)
|
rs201784750
|
0.00015
|
|
NM_000083.3(CLCN1):c.2722A>G (p.Asn908Asp)
|
rs146862992
|
0.00015
|
|
NM_000090.4(COL3A1):c.3325C>G (p.Arg1109Gly)
|
rs112371422
|
0.00015
|
|
NM_000092.5(COL4A4):c.2430C>G (p.Gly810=)
|
rs769363556
|
0.00015
|
|
NM_000094.4(COL7A1):c.3724-6C>T
|
rs370390884
|
0.00015
|
|
NM_000094.4(COL7A1):c.59G>C (p.Arg20Pro)
|
rs755340663
|
0.00015
|
|
NM_000094.4(COL7A1):c.630C>T (p.Leu210=)
|
rs117857033
|
0.00015
|
|
NM_000128.4(F11):c.596-6G>A
|
rs369721182
|
0.00015
|
|
NM_000135.4(FANCA):c.1413C>T (p.Val471=)
|
rs201561753
|
0.00015
|
|
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe)
|
rs149775657
|
0.00015
|
|
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=)
|
rs140396599
|
0.00015
|
|
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=)
|
rs149697299
|
0.00015
|
|
NM_000138.5(FBN1):c.863-3C>T
|
rs955955089
|
0.00015
|
|
NM_000152.5(GAA):c.1332T>C (p.Pro444=)
|
rs200007324
|
0.00015
|
|
NM_000153.4(GALC):c.1629C>T (p.Ala543=)
|
rs201055535
|
0.00015
|
|
NM_000162.5(GCK):c.364-13G>A
|
rs372405219
|
0.00015
|
|
NM_000181.4(GUSB):c.13T>C (p.Ser5Pro)
|
rs190496263
|
0.00015
|
|
NM_000193.4(SHH):c.183G>T (p.Arg61Ser)
|
rs776420800
|
0.00015
|
|
NM_000204.5(CFI):c.608C>T (p.Thr203Ile)
|
rs138346388
|
0.00015
|
|
NM_000211.5(ITGB2):c.228C>T (p.Asp76=)
|
rs368629638
|
0.00015
|
|
NM_000218.3(KCNQ1):c.1459G>A (p.Glu487Lys)
|
rs1205552952
|
0.00015
|
|
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr)
|
rs199472676
|
0.00015
|
|
NM_000222.3(KIT):c.2484C>T (p.Asn828=)
|
rs141347955
|
0.00015
|
|
NM_000238.4(KCNH2):c.355G>C (p.Asp119His)
|
rs376308069
|
0.00015
|
|
NM_000245.4(MET):c.1771C>T (p.Arg591Trp)
|
rs45602940
|
0.00015
|
|
NM_000249.4(MLH1):c.1820T>A (p.Leu607His)
|
rs41295284
|
0.00015
|
|
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg)
|
rs140754514
|
0.00015
|
|
NM_000256.3(MYBPC3):c.1226+6T>C
|
rs397515892
|
0.00015
|
|
NM_000256.3(MYBPC3):c.1633C>A (p.Leu545Met)
|
rs377163678
|
0.00015
|
|
NM_000257.4(MYH7):c.5562G>A (p.Thr1854=)
|
rs368706722
|
0.00015
|
|
NM_000260.4(MYO7A):c.4471G>A (p.Val1491Met)
|
rs369768947
|
0.00015
|
|
NM_000260.4(MYO7A):c.5087G>A (p.Arg1696Gln)
|
rs368862510
|
0.00015
|
|
NM_000264.5(PTCH1):c.2059G>A (p.Val687Met)
|
rs374691153
|
0.00015
|
|
NM_000271.5(NPC1):c.1948-11G>A
|
rs371122321
|
0.00015
|
|
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr)
|
rs373435883
|
0.00015
|
|
NM_000271.5(NPC1):c.445G>A (p.Gly149Arg)
|
rs143205855
|
0.00015
|
|
NM_000291.4(PGK1):c.761G>C (p.Gly254Ala)
|
rs148399096
|
0.00015
|
|
NM_000302.4(PLOD1):c.897G>A (p.Pro299=)
|
rs199946373
|
0.00015
|
|
NM_000303.3(PMM2):c.*10G>A
|
rs200930493
|
0.00015
|
|
NM_000316.3(PTH1R):c.638+9G>A
|
rs371052201
|
0.00015
|
|
NM_000337.6(SGCD):c.123C>G (p.Leu41=)
|
rs200670993
|
0.00015
|
|
NM_000342.4(SLC4A1):c.1258G>A (p.Ala420Thr)
|
rs142905862
|
0.00015
|
|
NM_000371.4(TTR):c.384C>T (p.Ala128=)
|
rs143906738
|
0.00015
|
|
NM_000383.4(AIRE):c.600G>A (p.Pro200=)
|
rs754331960
|
0.00015
|
|
NM_000384.3(APOB):c.4970C>T (p.Thr1657Met)
|
rs144239254
|
0.00015
|
|
NM_000396.4(CTSK):c.169A>G (p.Ile57Val)
|
rs201446793
|
0.00015
|
|
NM_000466.3(PEX1):c.2558T>C (p.Met853Thr)
|
rs143283146
|
0.00015
|
|
NM_000492.4(CFTR):c.360G>A (p.Ala120=)
|
rs1800077
|
0.00015
|
|
NM_000501.4(ELN):c.1675G>A (p.Val559Ile)
|
rs560081099
|
0.00015
|
|
NM_000501.4(ELN):c.232+3G>A
|
rs377172364
|
0.00015
|
|
NM_000540.3(RYR1):c.14304-10G>A
|
rs368201693
|
0.00015
|
|
NM_000540.3(RYR1):c.2531G>A (p.Cys844Tyr)
|
rs146754847
|
0.00015
|
|
NM_000540.3(RYR1):c.3924G>C (p.Pro1308=)
|
rs144350050
|
0.00015
|
|
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys)
|
rs148041292
|
0.00015
|
|
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn)
|
rs45509392
|
0.00015
|
|
NM_000548.5(TSC2):c.300G>A (p.Ala100=)
|
rs45517100
|
0.00015
|
|
NM_000548.5(TSC2):c.4809C>T (p.Asp1603=)
|
rs147578602
|
0.00015
|
|
NM_000601.6(HGF):c.471A>G (p.Pro157=)
|
rs142045938
|
0.00015
|
|
NM_000719.7(CACNA1C):c.5644T>C (p.Ser1882Pro)
|
rs369438564
|
0.00015
|
|
NM_000742.4(CHRNA2):c.173C>T (p.Thr58Ile)
|
rs151268950
|
0.00015
|
|
NM_000883.4(IMPDH1):c.754G>T (p.Ala252Ser)
|
rs756851981
|
0.00015
|
|
NM_001005242.3(PKP2):c.195C>T (p.Ala65=)
|
rs397517014
|
0.00015
|
|
NM_001010892.3(RSPH4A):c.1708G>C (p.Glu570Gln)
|
rs147003118
|
0.00015
|
|
NM_001039348.3(EFEMP1):c.1420G>C (p.Gly474Arg)
|
rs200959130
|
0.00015
|
|
NM_001040142.2(SCN2A):c.5753G>A (p.Arg1918His)
|
rs201718767
|
0.00015
|
|
NM_001042432.2(CLN3):c.677+8G>A
|
rs368568189
|
0.00015
|
|
NM_001042492.3(NF1):c.107C>G (p.Thr36Ser)
|
rs199966218
|
0.00015
|
|
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile)
|
rs201047812
|
0.00015
|
|
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu)
|
rs148736217
|
0.00015
|
|
NM_001042545.2(LTBP4):c.3877G>A (p.Val1293Met)
|
rs376368630
|
0.00015
|
|
NM_001079802.2(FKTN):c.333T>C (p.Thr111=)
|
rs141729611
|
0.00015
|
|
NM_001079855.2(GYG2):c.1110G>C (p.Gln370His)
|
rs145525914
|
0.00015
|
|
NM_001083961.2(WDR62):c.3087C>T (p.Cys1029=)
|
rs141344823
|
0.00015
|
|
NM_001110556.2(FLNA):c.1812C>T (p.Asp604=)
|
rs370735674
|
0.00015
|
|
NM_001114753.3(ENG):c.321G>T (p.Leu107=)
|
rs767907933
|
0.00015
|
|
NM_001122681.2(SH3BP2):c.1367C>T (p.Ser456Leu)
|
rs199818232
|
0.00015
|
|
NM_001127222.2(CACNA1A):c.5987C>T (p.Thr1996Met)
|
rs778274864
|
0.00015
|
|
NM_001127453.2(GSDME):c.325G>A (p.Val109Ile)
|
rs202227661
|
0.00015
|
|
NM_001127898.4(CLCN5):c.926G>A (p.Arg309His)
|
rs147798092
|
0.00015
|
|
NM_001130987.2(DYSF):c.1140C>T (p.Asp380=)
|
rs373744398
|
0.00015
|
|
NM_001130987.2(DYSF):c.279C>T (p.Leu93=)
|
rs138870937
|
0.00015
|
|
NM_001135022.2(ELMOD3):c.1126G>A (p.Glu376Lys)
|
rs564403550
|
0.00015
|
|
NM_001142800.2(EYS):c.453T>A (p.Val151=)
|
rs373183802
|
0.00015
|
|
NM_001145809.2(MYH14):c.3098C>T (p.Thr1033Met)
|
rs201746408
|
0.00015
|
|
NM_001148.6(ANK2):c.5651C>T (p.Ser1884Leu)
|
rs150737736
|
0.00015
|
|
NM_001160372.4(TRAPPC9):c.3136C>T (p.Arg1046Trp)
|
rs376617920
|
0.00015
|
|
NM_001164508.2(NEB):c.21173C>T (p.Thr7058Ile)
|
rs200523155
|
0.00015
|
|
NM_001164508.2(NEB):c.22535C>T (p.Pro7512Leu)
|
rs376609115
|
0.00015
|
|
NM_001199138.2(NLRC4):c.928C>T (p.Arg310Ter)
|
rs199475953
|
0.00015
|
|
NM_001199799.2(ILDR1):c.307G>A (p.Ala103Thr)
|
rs200130100
|
0.00015
|
|
NM_001267550.2(TTN):c.104364C>T (p.Ser34788=)
|
rs181679744
|
0.00015
|
|
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln)
|
rs115150240
|
0.00015
|
|
NM_001267550.2(TTN):c.14869A>C (p.Thr4957Pro)
|
rs780405420
|
0.00015
|
|
NM_001267550.2(TTN):c.24622G>A (p.Glu8208Lys)
|
rs190192954
|
0.00015
|
|
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser)
|
rs200355367
|
0.00015
|
|
NM_001267550.2(TTN):c.45014T>C (p.Leu15005Pro)
|
rs369992659
|
0.00015
|
|
NM_001267550.2(TTN):c.48624T>C (p.Pro16208=)
|
rs72677240
|
0.00015
|
|
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln)
|
rs367566671
|
0.00015
|
|
NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu)
|
rs200132226
|
0.00015
|
|
NM_001267550.2(TTN):c.68513C>T (p.Ala22838Val)
|
rs372075439
|
0.00015
|
|
NM_001267550.2(TTN):c.80527T>C (p.Leu26843=)
|
rs142004835
|
0.00015
|
|
NM_001267550.2(TTN):c.85091G>A (p.Arg28364Gln)
|
rs376283153
|
0.00015
|
|
NM_001267550.2(TTN):c.88645_88647del (p.Glu29549del)
|
rs778364983
|
0.00015
|
|
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser)
|
rs186234393
|
0.00015
|
|
NM_001267550.2(TTN):c.93570T>A (p.Asn31190Lys)
|
rs746309005
|
0.00015
|
|
NM_001267550.2(TTN):c.97859C>T (p.Ala32620Val)
|
rs397517772
|
0.00015
|
|
NM_001267550.2(TTN):c.98959T>C (p.Ser32987Pro)
|
rs758494581
|
0.00015
|
|
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr)
|
rs45520032
|
0.00015
|
|
NM_001277115.2(DNAH11):c.9869C>G (p.Ser3290Cys)
|
rs201494403
|
0.00015
|
|
NM_001291303.3(FAT4):c.6094A>G (p.Thr2032Ala)
|
rs147314754
|
0.00015
|
|
NM_001292063.2(OTOG):c.2871G>A (p.Val957=)
|
rs539784682
|
0.00015
|
|
NM_001349338.3(FOXP1):c.44C>T (p.Ala15Val)
|
rs532329866
|
0.00015
|
|
NM_001351132.2(PEX5):c.129A>G (p.Gly43=)
|
rs932238098
|
0.00015
|
|
NM_001358263.1(HK1):c.28-3329G>A
|
rs192516988
|
0.00015
|
|
NM_001365276.2(TNXB):c.5155G>A (p.Val1719Met)
|
rs200125936
|
0.00015
|
|
NM_001365999.1(SZT2):c.137C>T (p.Thr46Ile)
|
rs139147641
|
0.00015
|
|
NM_001365999.1(SZT2):c.9286+5G>A
|
rs367775055
|
0.00015
|
|
NM_001367624.2(ZNF469):c.5341G>A (p.Gly1781Ser)
|
rs555047442
|
0.00015
|
|
NM_001367624.2(ZNF469):c.7514C>T (p.Pro2505Leu)
|
rs552311966
|
0.00015
|
|
NM_001368067.1(LDB3):c.511G>A (p.Ala171Thr)
|
rs373632943
|
0.00015
|
|
NM_001371279.1(REEP1):c.843C>T (p.Thr281=)
|
rs201177149
|
0.00015
|
|
NM_001371904.1(APOA5):c.434A>G (p.Gln145Arg)
|
rs368739905
|
0.00015
|
|
NM_001376.5(DYNC1H1):c.2670G>T (p.Leu890=)
|
rs142961295
|
0.00015
|
|
NM_001376.5(DYNC1H1):c.3156+5G>A
|
rs200905961
|
0.00015
|
|
NM_001377.3(DYNC2H1):c.6307T>A (p.Ser2103Thr)
|
rs201003494
|
0.00015
|
|
NM_001378120.1(MBD5):c.3678G>C (p.Gln1226His)
|
rs148321416
|
0.00015
|
|
NM_001378120.1(MBD5):c.4857C>T (p.Gly1619=)
|
rs543329958
|
0.00015
|
|
NM_001378454.1(ALMS1):c.8108C>T (p.Pro2703Leu)
|
rs199604280
|
0.00015
|
|
NM_001378969.1(KCND3):c.1292G>A (p.Arg431His)
|
rs771703569
|
0.00015
|
|
NM_001379200.1(TBX1):c.913C>A (p.Arg305=)
|
rs751339103
|
0.00015
|
|
NM_001384474.1(LOXHD1):c.3951C>A (p.Val1317=)
|
rs779507390
|
0.00015
|
|
NM_001457.4(FLNB):c.2095C>T (p.Arg699Trp)
|
rs200554477
|
0.00015
|
|
NM_001457.4(FLNB):c.4814G>A (p.Arg1605His)
|
rs201630300
|
0.00015
|
|
NM_001458.5(FLNC):c.3304C>T (p.Pro1102Ser)
|
rs199707920
|
0.00015
|
|
NM_001558.4(IL10RA):c.1283C>T (p.Pro428Leu)
|
rs752519410
|
0.00015
|
|
NM_001613.4(ACTA2):c.174C>T (p.Asp58=)
|
rs150547139
|
0.00015
|
|
NM_001845.6(COL4A1):c.1753C>T (p.Arg585Cys)
|
rs374223828
|
0.00015
|
|
NM_001845.6(COL4A1):c.3170T>C (p.Ile1057Thr)
|
rs569940067
|
0.00015
|
|
NM_001845.6(COL4A1):c.3712C>T (p.Arg1238Cys)
|
rs148801165
|
0.00015
|
|
NM_001849.4(COL6A2):c.2850C>T (p.Gly950=)
|
rs751192681
|
0.00015
|
|
NM_001939.3(DRP2):c.95G>A (p.Arg32Gln)
|
rs201882686
|
0.00015
|
|
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys)
|
rs371146201
|
0.00015
|
|
NM_002291.3(LAMB1):c.1447C>T (p.Arg483Cys)
|
rs139568495
|
0.00015
|
|
NM_002317.7(LOX):c.308G>C (p.Arg103Pro)
|
rs200513395
|
0.00015
|
|
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His)
|
rs267606904
|
0.00015
|
|
NM_002473.6(MYH9):c.32A>G (p.Tyr11Cys)
|
rs201415443
|
0.00015
|
|
NM_002474.3(MYH11):c.1749+4C>G
|
rs776271431
|
0.00015
|
|
NM_002474.3(MYH11):c.3766A>C (p.Lys1256Gln)
|
rs149241435
|
0.00015
|
|
NM_002485.5(NBN):c.38-10T>A
|
rs556807466
|
0.00015
|
|
NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro)
|
rs149323691
|
0.00015
|
|
NM_002693.3(POLG):c.1356T>C (p.Tyr452=)
|
rs3176179
|
0.00015
|
|
NM_002979.5(SCP2):c.348C>T (p.Val116=)
|
rs202234745
|
0.00015
|
|
NM_003482.4(KMT2D):c.1378C>A (p.Pro460Thr)
|
rs201089405
|
0.00015
|
|
NM_003482.4(KMT2D):c.2232A>C (p.Ser744=)
|
rs200155807
|
0.00015
|
|
NM_003482.4(KMT2D):c.5526T>C (p.Asp1842=)
|
rs137955659
|
0.00015
|
|
NM_003849.4(SUCLG1):c.395C>G (p.Ala132Gly)
|
rs376171433
|
0.00015
|
|
NM_004004.6(GJB2):c.241C>G (p.Leu81Val)
|
rs145216882
|
0.00015
|
|
NM_004006.3(DMD):c.32-14A>G
|
rs367757761
|
0.00015
|
|
NM_004100.5(EYA4):c.415T>A (p.Ser139Thr)
|
rs146999911
|
0.00015
|
|
NM_004260.4(RECQL4):c.1115G>C (p.Arg372Thr)
|
rs200097701
|
0.00015
|
|
NM_004320.6(ATP2A1):c.1722G>A (p.Glu574=)
|
rs145043756
|
0.00015
|
|
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn)
|
rs372989292
|
0.00015
|
|
NM_004360.5(CDH1):c.394G>A (p.Val132Ile)
|
rs142498771
|
0.00015
|
|
NM_004369.4(COL6A3):c.5652C>T (p.Thr1884=)
|
rs200285455
|
0.00015
|
|
NM_004380.3(CREBBP):c.2846C>T (p.Pro949Leu)
|
rs147083140
|
0.00015
|
|
NM_004385.5(VCAN):c.1369G>A (p.Glu457Lys)
|
rs145029761
|
0.00015
|
|
NM_004385.5(VCAN):c.8621C>T (p.Ala2874Val)
|
rs147798761
|
0.00015
|
|
NM_004453.4(ETFDH):c.972+13C>T
|
rs199589412
|
0.00015
|
|
NM_004525.3(LRP2):c.8132G>A (p.Arg2711His)
|
rs190037522
|
0.00015
|
|
NM_004568.6(SERPINB6):c.125A>C (p.Tyr42Ser)
|
rs147962494
|
0.00015
|
|
NM_004614.5(TK2):c.680C>T (p.Pro227Leu)
|
rs754140768
|
0.00015
|
|
NM_004646.4(NPHS1):c.1104G>A (p.Pro368=)
|
rs143178785
|
0.00015
|
|
NM_004655.4(AXIN2):c.344A>G (p.Asn115Ser)
|
rs370257532
|
0.00015
|
|
NM_004817.4(TJP2):c.1473C>A (p.Ala491=)
|
rs138509345
|
0.00015
|
|
NM_005219.5(DIAPH1):c.2107C>G (p.Pro703Ala)
|
rs201433617
|
0.00015
|
|
NM_005245.4(FAT1):c.4599+6C>T
|
rs201798649
|
0.00015
|
|
NM_005249.5(FOXG1):c.218A>C (p.Gln73Pro)
|
rs760663911
|
0.00015
|
|
NM_005422.4(TECTA):c.33C>A (p.Val11=)
|
rs140393508
|
0.00015
|
|
NM_005591.4(MRE11):c.1504C>T (p.Arg502Cys)
|
rs186333183
|
0.00015
|
|
NM_005619.5(RTN2):c.1630G>A (p.Ala544Thr)
|
rs201387324
|
0.00015
|
|
NM_005732.4(RAD50):c.1277A>G (p.Gln426Arg)
|
rs145428112
|
0.00015
|
|
NM_005857.5(ZMPSTE24):c.325T>G (p.Cys109Gly)
|
rs141386841
|
0.00015
|
|
NM_006005.3(WFS1):c.1012A>G (p.Ile338Val)
|
rs541594934
|
0.00015
|
|
NM_006005.3(WFS1):c.2667G>A (p.Ala889=)
|
rs71526454
|
0.00015
|
|
NM_006031.6(PCNT):c.1370A>G (p.Glu457Gly)
|
rs147868583
|
0.00015
|
|
NM_006073.4(TRDN):c.239C>T (p.Ser80Phe)
|
rs181287533
|
0.00015
|
|
NM_006182.4(DDR2):c.932G>A (p.Ser311Asn)
|
rs189870832
|
0.00015
|
|
NM_006206.6(PDGFRA):c.2291G>A (p.Arg764His)
|
rs141047712
|
0.00015
|
|
NM_006214.4(PHYH):c.606C>A (p.Asn202Lys)
|
rs201979258
|
0.00015
|
|
NM_006231.4(POLE):c.2974G>A (p.Ala992Thr)
|
rs115193764
|
0.00015
|
|
NM_006361.6(HOXB13):c.6G>A (p.Glu2=)
|
rs371544984
|
0.00015
|
|
NM_006514.4(SCN10A):c.4849G>T (p.Val1617Phe)
|
rs375940680
|
0.00015
|
|
NM_006949.4(STXBP2):c.914A>G (p.Glu305Gly)
|
rs370890802
|
0.00015
|
|
NM_007255.3(B4GALT7):c.687C>T (p.Asp229=)
|
rs756942664
|
0.00015
|
|
NM_007327.4(GRIN1):c.1012G>A (p.Val338Met)
|
rs140672142
|
0.00015
|
|
NM_012062.5(DNM1L):c.285C>T (p.His95=)
|
rs374173514
|
0.00015
|
|
NM_012082.4(ZFPM2):c.121C>G (p.Pro41Ala)
|
rs199535268
|
0.00015
|
|
NM_014339.7(IL17RA):c.1046G>C (p.Gly349Ala)
|
rs143897670
|
0.00015
|
|
NM_014363.6(SACS):c.10298C>T (p.Thr3433Ile)
|
rs200991790
|
0.00015
|
|
NM_014363.6(SACS):c.3345C>T (p.Val1115=)
|
rs143287019
|
0.00015
|
|
NM_014476.6(PDLIM3):c.399-10A>G
|
rs199979457
|
0.00015
|
|
NM_014727.3(KMT2B):c.5728C>G (p.Pro1910Ala)
|
rs377408813
|
0.00015
|
|
NM_014855.3(AP5Z1):c.2375G>A (p.Arg792His)
|
rs201677317
|
0.00015
|
|
NM_015627.3(LDLRAP1):c.375C>T (p.His125=)
|
rs146134293
|
0.00015
|
|
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly)
|
rs201240745
|
0.00015
|
|
NM_016239.4(MYO15A):c.3092C>T (p.Thr1031Ile)
|
rs377182808
|
0.00015
|
|
NM_016239.4(MYO15A):c.7367C>G (p.Ala2456Gly)
|
rs199953758
|
0.00015
|
|
NM_017780.4(CHD7):c.6513C>T (p.Ala2171=)
|
rs376020564
|
0.00015
|
|
NM_017780.4(CHD7):c.8446T>C (p.Leu2816=)
|
rs375204972
|
0.00015
|
|
NM_018136.5(ASPM):c.2761-11T>C
|
rs368239890
|
0.00015
|
|
NM_018368.4(LMBRD1):c.384T>C (p.Asp128=)
|
rs143642515
|
0.00015
|
|
NM_020822.3(KCNT1):c.2595-9C>T
|
rs369966222
|
0.00015
|
|
NM_020975.6(RET):c.2607+4C>T
|
rs200634990
|
0.00015
|
|
NM_021076.4(NEFH):c.1169A>C (p.Asn390Thr)
|
rs148653339
|
0.00015
|
|
NM_021098.3(CACNA1H):c.6545G>A (p.Arg2182His)
|
rs200724225
|
0.00015
|
|
NM_021625.5(TRPV4):c.1976C>T (p.Ser659Leu)
|
rs779715512
|
0.00015
|
|
NM_021628.3(ALOXE3):c.365G>T (p.Cys122Phe)
|
rs142479006
|
0.00015
|
|
NM_022124.6(CDH23):c.4786C>T (p.Arg1596Cys)
|
rs372636295
|
0.00015
|
|
NM_022356.4(P3H1):c.1721-4C>T
|
rs200901466
|
0.00015
|
|
NM_022436.3(ABCG5):c.1163C>T (p.Thr388Met)
|
rs149418765
|
0.00015
|
|
NM_022437.3(ABCG8):c.342G>A (p.Leu114=)
|
rs150970273
|
0.00015
|
|
NM_022489.4(INF2):c.2185G>A (p.Ala729Thr)
|
rs533208785
|
0.00015
|
|
NM_024105.4(ALG12):c.55G>A (p.Ala19Thr)
|
rs138266806
|
0.00015
|
|
NM_024301.5(FKRP):c.1405C>T (p.Leu469=)
|
rs143129484
|
0.00015
|
|
NM_024301.5(FKRP):c.336C>T (p.Ala112=)
|
rs1054339656
|
0.00015
|
|
NM_024422.6(DSC2):c.1521-7C>T
|
rs374810953
|
0.00015
|
|
NM_024513.4(FYCO1):c.2037G>A (p.Ala679=)
|
rs373400491
|
0.00015
|
|
NM_024589.3(ROGDI):c.823-15C>T
|
rs372520122
|
0.00015
|
|
NM_024753.5(TTC21B):c.173G>A (p.Arg58Gln)
|
rs376163622
|
0.00015
|
|
NM_025137.4(SPG11):c.1121C>G (p.Ser374Cys)
|
rs144403346
|
0.00015
|
|
NM_025137.4(SPG11):c.5011C>T (p.His1671Tyr)
|
rs141011688
|
0.00015
|
|
NM_030665.4(RAI1):c.1740G>A (p.Pro580=)
|
rs138768616
|
0.00015
|
|
NM_030665.4(RAI1):c.2422G>A (p.Gly808Arg)
|
rs746952369
|
0.00015
|
|
NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val)
|
rs201393026
|
0.00015
|
|
NM_032119.4(ADGRV1):c.2538G>A (p.Leu846=)
|
rs375415491
|
0.00015
|
|
NM_032119.4(ADGRV1):c.3671C>T (p.Thr1224Ile)
|
rs554285146
|
0.00015
|
|
NM_032119.4(ADGRV1):c.6269G>A (p.Arg2090His)
|
rs370252248
|
0.00015
|
|
NM_032977.4(CASP10):c.913A>G (p.Lys305Glu)
|
rs149912574
|
0.00015
|
|
NM_033022.4(RPS24):c.189T>C (p.His63=)
|
rs201805132
|
0.00015
|
|
NM_033305.3(VPS13A):c.7047G>A (p.Glu2349=)
|
rs552113529
|
0.00015
|
|
NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg)
|
rs147008323
|
0.00015
|
|
NM_138694.4(PKHD1):c.10888C>T (p.His3630Tyr)
|
rs145219220
|
0.00015
|
|
NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro)
|
rs199900211
|
0.00015
|
|
NM_138694.4(PKHD1):c.4854C>T (p.Ile1618=)
|
rs140674740
|
0.00015
|
|
NM_138694.4(PKHD1):c.658G>A (p.Asp220Asn)
|
rs199897497
|
0.00015
|
|
NM_138694.4(PKHD1):c.9262G>A (p.Asp3088Asn)
|
rs201066635
|
0.00015
|
|
NM_138711.6(PPARG):c.417G>A (p.Leu139=)
|
rs41415646
|
0.00015
|
|
NM_139058.3(ARX):c.1119+6C>T
|
rs201300786
|
0.00015
|
|
NM_152703.5(SAMD9L):c.4298T>C (p.Leu1433Pro)
|
rs146611034
|
0.00015
|
|
NM_153240.5(NPHP3):c.621A>G (p.Val207=)
|
rs139693694
|
0.00015
|
|
NM_153638.4(PANK2):c.280C>G (p.Arg94Gly)
|
rs199680057
|
0.00015
|
|
NM_153717.3(EVC):c.105C>A (p.Gly35=)
|
rs745558003
|
0.00015
|
|
NM_182914.3(SYNE2):c.16856A>G (p.Asp5619Gly)
|
rs139187222
|
0.00015
|
|
NM_182914.3(SYNE2):c.8005A>G (p.Thr2669Ala)
|
rs374946613
|
0.00015
|
|
NM_182961.4(SYNE1):c.13849A>C (p.Asn4617His)
|
rs147667464
|
0.00015
|
|
NM_182961.4(SYNE1):c.25120-6A>G
|
rs201898019
|
0.00015
|
|
NM_182961.4(SYNE1):c.4723C>T (p.Leu1575Phe)
|
rs200424447
|
0.00015
|
|
NM_182961.4(SYNE1):c.6648C>T (p.Cys2216=)
|
rs185829704
|
0.00015
|
|
NM_194248.3(OTOF):c.4363-6G>A
|
rs199567872
|
0.00015
|
|
NM_194248.3(OTOF):c.446C>T (p.Thr149Met)
|
rs140454738
|
0.00015
|
|
NM_198407.2(GHSR):c.1070G>A (p.Arg357Gln)
|
rs202112906
|
0.00015
|
|
NM_198525.3(KIF7):c.952G>A (p.Ala318Thr)
|
rs756368261
|
0.00015
|
|
NM_201384.3(PLEC):c.10417G>A (p.Gly3473Ser)
|
rs201765507
|
0.00015
|
|
NM_201384.3(PLEC):c.11597G>A (p.Arg3866His)
|
rs377150241
|
0.00015
|
|
NM_201384.3(PLEC):c.11657G>A (p.Arg3886His)
|
rs368152307
|
0.00015
|
|
NM_201384.3(PLEC):c.3279G>A (p.Leu1093=)
|
rs371818099
|
0.00015
|
|
NM_201384.3(PLEC):c.5520C>T (p.Ala1840=)
|
rs374790646
|
0.00015
|
|
NM_206933.4(USH2A):c.1486A>C (p.Thr496Pro)
|
rs145114473
|
0.00015
|
|
NM_206933.4(USH2A):c.1590A>T (p.Thr530=)
|
rs144343161
|
0.00015
|
|
NM_206933.4(USH2A):c.5299-10T>C
|
rs375279569
|
0.00015
|
|
NM_206933.4(USH2A):c.9008T>C (p.Val3003Ala)
|
rs138574386
|
0.00015
|
|
NM_213599.3(ANO5):c.279C>T (p.Asp93=)
|
rs148516756
|
0.00015
|
|
NM_000017.4(ACADS):c.825C>T (p.Ile275=)
|
rs200652158
|
0.00014
|
|
NM_000018.4(ACADVL):c.1227G>A (p.Thr409=)
|
rs778531268
|
0.00014
|
|
NM_000022.4(ADA):c.591T>A (p.His197Gln)
|
rs142456343
|
0.00014
|
|
NM_000022.4(ADA):c.864T>G (p.Ala288=)
|
rs146614184
|
0.00014
|
|
NM_000027.4(AGA):c.941-5C>T
|
rs377622082
|
0.00014
|
|
NM_000033.4(ABCD1):c.1780+4G>A
|
rs193922095
|
0.00014
|
|
NM_000037.4(ANK1):c.4341T>C (p.Ser1447=)
|
rs112677283
|
0.00014
|
|
NM_000037.4(ANK1):c.5601G>A (p.Ala1867=)
|
rs150975400
|
0.00014
|
|
NM_000038.6(APC):c.7109G>T (p.Gly2370Val)
|
rs140079759
|
0.00014
|
|
NM_000049.4(ASPA):c.427A>G (p.Ile143Val)
|
rs199565861
|
0.00014
|
|
NM_000051.4(ATM):c.2927T>C (p.Val976Ala)
|
rs146145357
|
0.00014
|
|
NM_000051.4(ATM):c.3077+4G>A
|
rs201222237
|
0.00014
|
|
NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg)
|
rs146017595
|
0.00014
|
|
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp)
|
rs147600485
|
0.00014
|
|
NM_000051.4(ATM):c.5089A>G (p.Thr1697Ala)
|
rs142455912
|
0.00014
|
|
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile)
|
rs35203200
|
0.00014
|
|
NM_000053.4(ATP7B):c.2475G>A (p.Val825=)
|
rs373528664
|
0.00014
|
|
NM_000053.4(ATP7B):c.3006C>T (p.Ala1002=)
|
rs369620062
|
0.00014
|
|
NM_000053.4(ATP7B):c.3217G>A (p.Val1073Met)
|
rs376112375
|
0.00014
|
|
NM_000053.4(ATP7B):c.670A>T (p.Ile224Phe)
|
rs200563529
|
0.00014
|
|
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met)
|
rs80358656
|
0.00014
|
|
NM_000059.4(BRCA2):c.502C>A (p.Pro168Thr)
|
rs80358726
|
0.00014
|
|
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr)
|
rs55854959
|
0.00014
|
|
NM_000063.6(C2):c.1169A>C (p.Asp390Ala)
|
rs142088624
|
0.00014
|
|
NM_000069.3(CACNA1S):c.3287G>A (p.Arg1096His)
|
rs142102094
|
0.00014
|
|
NM_000081.4(LYST):c.6388G>A (p.Asp2130Asn)
|
rs148371004
|
0.00014
|
|
NM_000081.4(LYST):c.7806A>G (p.Gln2602=)
|
rs372754364
|
0.00014
|
|
NM_000083.3(CLCN1):c.1392C>T (p.Phe464=)
|
rs201919331
|
0.00014
|
|
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys)
|
rs201509501
|
0.00014
|
|
NM_000085.5(CLCNKB):c.1717T>C (p.Ser573Pro)
|
rs148173992
|
0.00014
|
|
NM_000090.4(COL3A1):c.4021G>A (p.Gly1341Ser)
|
rs140646380
|
0.00014
|
|
NM_000091.5(COL4A3):c.3751+7G>A
|
rs750554079
|
0.00014
|
|
NM_000092.5(COL4A4):c.4982T>A (p.Phe1661Tyr)
|
rs374119389
|
0.00014
|
|
NM_000093.5(COL5A1):c.2089-8G>A
|
rs368595229
|
0.00014
|
|
NM_000093.5(COL5A1):c.4121C>T (p.Thr1374Met)
|
rs151115748
|
0.00014
|
|
NM_000094.4(COL7A1):c.7217C>T (p.Pro2406Leu)
|
rs144788938
|
0.00014
|
|
NM_000095.3(COMP):c.951C>A (p.Asp317Glu)
|
rs200547692
|
0.00014
|
|
NM_000098.3(CPT2):c.1914A>G (p.Gln638=)
|
rs903915351
|
0.00014
|
|
NM_000098.3(CPT2):c.406G>T (p.Ala136Ser)
|
rs554813467
|
0.00014
|
|
NM_000117.3(EMD):c.537G>A (p.Leu179=)
|
rs368661339
|
0.00014
|
|
NM_000127.3(EXT1):c.1749G>C (p.Gln583His)
|
rs575895733
|
0.00014
|
|
NM_000130.5(F5):c.4333A>G (p.Thr1445Ala)
|
rs200204656
|
0.00014
|
|
NM_000138.5(FBN1):c.1571C>T (p.Thr524Met)
|
rs370575495
|
0.00014
|
|
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=)
|
rs779913610
|
0.00014
|
|
NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp)
|
rs191989961
|
0.00014
|
|
NM_000138.5(FBN1):c.5917+3A>G
|
rs202158568
|
0.00014
|
|
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln)
|
rs199522781
|
0.00014
|
|
NM_000143.4(FH):c.122C>T (p.Ala41Val)
|
rs201486221
|
0.00014
|
|
NM_000147.5(FUCA1):c.405G>A (p.Thr135=)
|
rs145153173
|
0.00014
|
|
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile)
|
rs145172999
|
0.00014
|
|
NM_000152.5(GAA):c.1593C>T (p.Asp531=)
|
rs138732016
|
0.00014
|
|
NM_000152.5(GAA):c.2052G>A (p.Pro684=)
|
rs546463058
|
0.00014
|
|
NM_000155.4(GALT):c.688-4C>T
|
rs374014228
|
0.00014
|
|
NM_000158.4(GBE1):c.45G>A (p.Glu15=)
|
rs370326965
|
0.00014
|
|
NM_000162.5(GCK):c.213C>T (p.Val71=)
|
rs143128547
|
0.00014
|
|
NM_000170.3(GLDC):c.1974C>A (p.Ala658=)
|
rs534062853
|
0.00014
|
|
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu)
|
rs61748083
|
0.00014
|
|
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg)
|
rs267608051
|
0.00014
|
|
NM_000186.4(CFH):c.3004G>C (p.Gly1002Arg)
|
rs201816520
|
0.00014
|
|
NM_000204.5(CFI):c.905-3T>C
|
rs377535161
|
0.00014
|
|
NM_000209.4(PDX1):c.164G>A (p.Gly55Asp)
|
rs753249965
|
0.00014
|
|
NM_000211.5(ITGB2):c.159G>A (p.Gly53=)
|
rs200150384
|
0.00014
|
|
NM_000219.6(KCNE1):c.325G>A (p.Val109Ile)
|
rs77442996
|
0.00014
|
|
NM_000222.3(KIT):c.2234-3C>T
|
rs370131461
|
0.00014
|
|
NM_000233.4(LHCGR):c.54G>A (p.Gln18=)
|
rs780848944
|
0.00014
|
|
NM_000243.3(MEFV):c.1770G>A (p.Leu590=)
|
rs139692347
|
0.00014
|
|
NM_000246.4(CIITA):c.1542G>A (p.Thr514=)
|
rs2228239
|
0.00014
|
|
NM_000249.4(MLH1):c.2001C>T (p.Asp667=)
|
rs63750014
|
0.00014
|
|
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly)
|
rs63750650
|
0.00014
|
|
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser)
|
rs201118107
|
0.00014
|
|
NM_000251.3(MSH2):c.766G>A (p.Ala256Thr)
|
rs377403073
|
0.00014
|
|
NM_000257.4(MYH7):c.4170-8C>A
|
rs199632504
|
0.00014
|
|
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr)
|
rs782481491
|
0.00014
|
|
NM_000261.2(MYOC):c.376C>T (p.Arg126Trp)
|
rs200120115
|
0.00014
|
|
NM_000264.5(PTCH1):c.2678G>A (p.Arg893His)
|
rs138154222
|
0.00014
|
|
NM_000264.5(PTCH1):c.4252G>A (p.Val1418Ile)
|
rs369882883
|
0.00014
|
|
NM_000266.4(NDP):c.385G>A (p.Glu129Lys)
|
rs756474198
|
0.00014
|
|
NM_000268.4(NF2):c.107A>G (p.Asn36Ser)
|
rs372279458
|
0.00014
|
|
NM_000268.4(NF2):c.240+15C>T
|
rs200701337
|
0.00014
|
|
NM_000277.3(PAH):c.442-18G>A
|
rs149538764
|
0.00014
|
|
NM_000302.4(PLOD1):c.1321C>T (p.Arg441Trp)
|
rs11553676
|
0.00014
|
|
NM_000303.3(PMM2):c.634A>G (p.Met212Val)
|
rs3743808
|
0.00014
|
|
NM_000343.4(SLC5A1):c.1809G>A (p.Arg603=)
|
rs200228396
|
0.00014
|
|
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=)
|
rs201602424
|
0.00014
|
|
NM_000368.5(TSC1):c.2209-3T>C
|
rs368309229
|
0.00014
|
|
NM_000368.5(TSC1):c.532G>A (p.Val178Ile)
|
rs118203395
|
0.00014
|
|
NM_000383.4(AIRE):c.880-7G>A
|
rs141955483
|
0.00014
|
|
NM_000384.3(APOB):c.2914G>A (p.Gly972Ser)
|
rs199893862
|
0.00014
|
|
NM_000426.4(LAMA2):c.4969G>A (p.Val1657Met)
|
rs370971334
|
0.00014
|
|
NM_000426.4(LAMA2):c.5291A>G (p.Glu1764Gly)
|
rs141950826
|
0.00014
|
|
NM_000426.4(LAMA2):c.7395T>C (p.Asp2465=)
|
rs140483001
|
0.00014
|
|
NM_000433.4(NCF2):c.197G>A (p.Arg66Gln)
|
rs142803799
|
0.00014
|
|
NM_000435.3(NOTCH3):c.6611C>T (p.Pro2204Leu)
|
rs371738874
|
0.00014
|
|
NM_000465.4(BARD1):c.279A>G (p.Gln93=)
|
rs370000575
|
0.00014
|
|
NM_000466.3(PEX1):c.3250A>G (p.Met1084Val)
|
rs781277635
|
0.00014
|
|
NM_000481.4(AMT):c.858C>A (p.Gly286=)
|
rs367726589
|
0.00014
|
|
NM_000484.4(APP):c.1689T>C (p.Asp563=)
|
rs137865262
|
0.00014
|
|
NM_000492.4(CFTR):c.2559T>C (p.Ile853=)
|
rs1800104
|
0.00014
|
|
NM_000528.4(MAN2B1):c.1928+10G>C
|
rs200579436
|
0.00014
|
|
NM_000532.5(PCCB):c.654+3A>C
|
rs199886085
|
0.00014
|
|
NM_000540.3(RYR1):c.2676C>T (p.Tyr892=)
|
rs375402078
|
0.00014
|
|
NM_000540.3(RYR1):c.641C>T (p.Thr214Met)
|
rs727504129
|
0.00014
|
|
NM_000540.3(RYR1):c.8442G>A (p.Lys2814=)
|
rs771306571
|
0.00014
|
|
NM_000540.3(RYR1):c.9148G>A (p.Val3050Ile)
|
rs200797340
|
0.00014
|
|
NM_000543.5(SMPD1):c.56A>G (p.Gln19Arg)
|
rs144465428
|
0.00014
|
|
NM_000543.5(SMPD1):c.708G>A (p.Pro236=)
|
rs374604948
|
0.00014
|
|
NM_000543.5(SMPD1):c.808G>A (p.Gly270Ser)
|
rs202244080
|
0.00014
|
|
NM_000546.6(TP53):c.869G>A (p.Arg290His)
|
rs55819519
|
0.00014
|
|
NM_000548.5(TSC2):c.3379C>T (p.Arg1127Trp)
|
rs373939435
|
0.00014
|
|
NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val)
|
rs45448801
|
0.00014
|
|
NM_000548.5(TSC2):c.4493+7C>A
|
rs199943270
|
0.00014
|
|
NM_000548.5(TSC2):c.5185C>T (p.Arg1729Cys)
|
rs45517409
|
0.00014
|
|
NM_000628.5(IL10RB):c.954G>A (p.Pro318=)
|
rs374161818
|
0.00014
|
|
NM_000642.3(AGL):c.1261A>G (p.Arg421Gly)
|
rs150637770
|
0.00014
|
|
NM_000642.3(AGL):c.846+14G>A
|
rs376827010
|
0.00014
|
|
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr)
|
rs752000790
|
0.00014
|
|
NM_000719.7(CACNA1C):c.4075-4C>A
|
rs369044605
|
0.00014
|
|
NM_000719.7(CACNA1C):c.4322C>T (p.Thr1441Met)
|
rs727503835
|
0.00014
|
|
NM_000744.7(CHRNA4):c.1360G>A (p.Gly454Ser)
|
rs78306886
|
0.00014
|
|
NM_000751.3(CHRND):c.1367A>G (p.Asn456Ser)
|
rs144433265
|
0.00014
|
|
NM_000875.5(IGF1R):c.605A>G (p.Asn202Ser)
|
rs145668206
|
0.00014
|
|
NM_000883.4(IMPDH1):c.1386G>A (p.Leu462=)
|
rs144587211
|
0.00014
|
|
NM_000942.5(PPIB):c.569G>A (p.Arg190Gln)
|
rs200864554
|
0.00014
|
|
NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val)
|
rs140782427
|
0.00014
|
|
NM_001004334.4(GPR179):c.5058C>T (p.Ala1686=)
|
rs376750375
|
0.00014
|
|
NM_001005242.3(PKP2):c.1379-2066C>T
|
rs373399921
|
0.00014
|
|
NM_001005373.4(LRSAM1):c.894G>A (p.Thr298=)
|
rs771491533
|
0.00014
|
|
NM_001008537.3(NEXMIF):c.206C>T (p.Ser69Phe)
|
rs201351157
|
0.00014
|
|
NM_001009999.3(KDM1A):c.283A>G (p.Thr95Ala)
|
rs200773378
|
0.00014
|
|
NM_001035.3(RYR2):c.10523T>C (p.Ile3508Thr)
|
rs115622575
|
0.00014
|
|
NM_001035.3(RYR2):c.1476+4C>T
|
rs369442980
|
0.00014
|
|
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His)
|
rs79457258
|
0.00014
|
|
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg)
|
rs200450676
|
0.00014
|
|
NM_001035.3(RYR2):c.4747C>T (p.Pro1583Ser)
|
rs200070226
|
0.00014
|
|
NM_001035.3(RYR2):c.8378G>A (p.Arg2793Gln)
|
rs559773178
|
0.00014
|
|
NM_001040716.2(PC):c.3341C>T (p.Ala1114Val)
|
rs148492494
|
0.00014
|
|
NM_001042492.3(NF1):c.2133C>T (p.Arg711=)
|
rs148085908
|
0.00014
|
|
NM_001077365.2(POMT1):c.129C>T (p.Asp43=)
|
rs200465419
|
0.00014
|
|
NM_001079.4(ZAP70):c.981C>G (p.Asp327Glu)
|
rs201605654
|
0.00014
|
|
NM_001079866.2(BCS1L):c.822G>A (p.Pro274=)
|
rs112329020
|
0.00014
|
|
NM_001080449.3(DNA2):c.2473G>A (p.Val825Met)
|
rs201513130
|
0.00014
|
|
NM_001082971.2(DDC):c.366C>T (p.Leu122=)
|
rs377528325
|
0.00014
|
|
NM_001083961.2(WDR62):c.824C>T (p.Ser275Leu)
|
rs202014178
|
0.00014
|
|
NM_001105206.3(LAMA4):c.3558-7T>C
|
rs200864778
|
0.00014
|
|
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=)
|
rs370868704
|
0.00014
|
|
NM_001111125.3(IQSEC2):c.1926G>A (p.Pro642=)
|
rs782748026
|
0.00014
|
|
NM_001114753.3(ENG):c.694C>T (p.Arg232Trp)
|
rs200372420
|
0.00014
|
|
NM_001126108.2(SLC12A3):c.1968G>A (p.Pro656=)
|
rs150378634
|
0.00014
|
|
NM_001127222.2(CACNA1A):c.5259C>T (p.Thr1753=)
|
rs376684786
|
0.00014
|
|
NM_001127222.2(CACNA1A):c.6760G>C (p.Glu2254Gln)
|
rs779063280
|
0.00014
|
|
NM_001127644.2(GABRA1):c.-4C>T
|
rs375475234
|
0.00014
|
|
NM_001128840.3(CACNA1D):c.1385G>A (p.Arg462Gln)
|
rs35057005
|
0.00014
|
|
NM_001130823.3(DNMT1):c.301C>T (p.Arg101Trp)
|
rs369196079
|
0.00014
|
|
NM_001130987.2(DYSF):c.2622G>A (p.Leu874=)
|
rs191337920
|
0.00014
|
|
NM_001130987.2(DYSF):c.2855C>T (p.Pro952Leu)
|
rs150717638
|
0.00014
|
|
NM_001130987.2(DYSF):c.5010C>T (p.Phe1670=)
|
rs151276652
|
0.00014
|
|
NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His)
|
rs147678255
|
0.00014
|
|
NM_001134363.3(RBM20):c.1633G>A (p.Val545Ile)
|
rs397516596
|
0.00014
|
|
NM_001134363.3(RBM20):c.1958C>T (p.Thr653Ile)
|
rs727505310
|
0.00014
|
|
NM_001134363.3(RBM20):c.2393C>T (p.Pro798Leu)
|
rs730880184
|
0.00014
|
|
NM_001134363.3(RBM20):c.3512C>T (p.Thr1171Met)
|
rs371181124
|
0.00014
|
|
NM_001142864.4(PIEZO1):c.3340C>G (p.Gln1114Glu)
|
rs373706590
|
0.00014
|
|
NM_001142864.4(PIEZO1):c.950G>C (p.Gly317Ala)
|
rs868678918
|
0.00014
|
|
NM_001145809.2(MYH14):c.4827G>A (p.Leu1609=)
|
rs201418071
|
0.00014
|
|
NM_001145809.2(MYH14):c.526G>A (p.Ala176Thr)
|
rs138001307
|
0.00014
|
|
NM_001148.6(ANK2):c.2110C>G (p.Gln704Glu)
|
rs139197937
|
0.00014
|
|
NM_001148.6(ANK2):c.6854T>C (p.Ile2285Thr)
|
rs150684838
|
0.00014
|
|
NM_001164508.2(NEB):c.11971G>A (p.Ala3991Thr)
|
rs368328716
|
0.00014
|
|
NM_001164508.2(NEB):c.1544A>G (p.Gln515Arg)
|
rs368150737
|
0.00014
|
|
NM_001164508.2(NEB):c.21861G>A (p.Arg7287=)
|
rs372808358
|
0.00014
|
|
NM_001164508.2(NEB):c.22642A>G (p.Lys7548Glu)
|
rs201976154
|
0.00014
|
|
NM_001164508.2(NEB):c.539A>G (p.Lys180Arg)
|
rs200719359
|
0.00014
|
|
NM_001164508.2(NEB):c.7342C>T (p.Arg2448Cys)
|
rs576076237
|
0.00014
|
|
NM_001165963.4(SCN1A):c.1790C>A (p.Thr597Asn)
|
rs149715258
|
0.00014
|
|
NM_001165963.4(SCN1A):c.3591A>G (p.Glu1197=)
|
rs371596040
|
0.00014
|
|
NM_001165963.4(SCN1A):c.5217C>T (p.Pro1739=)
|
rs149315236
|
0.00014
|
|
NM_001165963.4(SCN1A):c.579C>T (p.Leu193=)
|
rs116478064
|
0.00014
|
|
NM_001171.6(ABCC6):c.2995+6C>T
|
rs373896559
|
0.00014
|
|
NM_001177316.2(SLC34A3):c.305-7G>A
|
rs201109343
|
0.00014
|
|
NM_001182.5(ALDH7A1):c.63T>C (p.Pro21=)
|
rs368427726
|
0.00014
|
|
NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val)
|
rs117557829
|
0.00014
|
|
NM_001199397.3(NEK1):c.594A>G (p.Thr198=)
|
rs373252814
|
0.00014
|
|
NM_001242896.3(DEPDC5):c.2591C>T (p.Thr864Met)
|
rs564667614
|
0.00014
|
|
NM_001243279.3(ACSF3):c.1613+8T>G
|
rs1358602745
|
0.00014
|
|
NM_001252024.2(TRPM1):c.924G>A (p.Ser308=)
|
rs376610188
|
0.00014
|
|
NM_001253697.2(ERBIN):c.360G>A (p.Val120=)
|
rs369427319
|
0.00014
|
|
NM_001256545.2(MEGF10):c.2980+14A>G
|
rs370563737
|
0.00014
|
|
NM_001256789.3(CACNA1F):c.3833G>A (p.Arg1278His)
|
rs782330306
|
0.00014
|
|
NM_001267550.2(TTN):c.102561C>T (p.Tyr34187=)
|
rs375625664
|
0.00014
|
|
NM_001267550.2(TTN):c.103104A>G (p.Leu34368=)
|
rs371535721
|
0.00014
|
|
NM_001267550.2(TTN):c.103434C>A (p.Asp34478Glu)
|
rs376371272
|
0.00014
|
|
NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala)
|
rs376634193
|
0.00014
|
|
NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile)
|
rs397517478
|
0.00014
|
|
NM_001267550.2(TTN):c.14639C>T (p.Ala4880Val)
|
rs373683445
|
0.00014
|
|
NM_001267550.2(TTN):c.14759C>T (p.Thr4920Met)
|
rs371455094
|
0.00014
|
|
NM_001267550.2(TTN):c.20108G>A (p.Arg6703Gln)
|
rs546821182
|
0.00014
|
|
NM_001267550.2(TTN):c.21197A>G (p.Lys7066Arg)
|
rs553548392
|
0.00014
|
|
NM_001267550.2(TTN):c.21962-6C>T
|
rs374870814
|
0.00014
|
|
NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg)
|
rs367826445
|
0.00014
|
|
NM_001267550.2(TTN):c.26329G>A (p.Val8777Ile)
|
rs376823283
|
0.00014
|
|
NM_001267550.2(TTN):c.2731G>A (p.Val911Ile)
|
rs141961878
|
0.00014
|
|
NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys)
|
rs200902055
|
0.00014
|
|
NM_001267550.2(TTN):c.32660T>C (p.Ile10887Thr)
|
rs371538856
|
0.00014
|
|
NM_001267550.2(TTN):c.32731G>A (p.Glu10911Lys)
|
rs199620003
|
0.00014
|
|
NM_001267550.2(TTN):c.32971G>A (p.Glu10991Lys)
|
rs201081803
|
0.00014
|
|
NM_001267550.2(TTN):c.33838C>T (p.Pro11280Ser)
|
rs374449452
|
0.00014
|
|
NM_001267550.2(TTN):c.35371G>T (p.Val11791Phe)
|
rs200587998
|
0.00014
|
|
NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu)
|
rs374497665
|
0.00014
|
|
NM_001267550.2(TTN):c.39813A>G (p.Pro13271=)
|
rs373429851
|
0.00014
|
|
NM_001267550.2(TTN):c.43260C>T (p.Phe14420=)
|
rs372382546
|
0.00014
|
|
NM_001267550.2(TTN):c.44282-6G>A
|
rs372166634
|
0.00014
|
|
NM_001267550.2(TTN):c.47936C>T (p.Pro15979Leu)
|
rs184815126
|
0.00014
|
|
NM_001267550.2(TTN):c.50059A>G (p.Ile16687Val)
|
rs727504194
|
0.00014
|
|
NM_001267550.2(TTN):c.50390G>A (p.Arg16797His)
|
rs200835354
|
0.00014
|
|
NM_001267550.2(TTN):c.52331G>A (p.Arg17444His)
|
rs376080116
|
0.00014
|
|
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu)
|
rs200968679
|
0.00014
|
|
NM_001267550.2(TTN):c.56942C>T (p.Ala18981Val)
|
rs397517627
|
0.00014
|
|
NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe)
|
rs201541213
|
0.00014
|
|
NM_001267550.2(TTN):c.58190C>T (p.Thr19397Met)
|
rs373527448
|
0.00014
|
|
NM_001267550.2(TTN):c.59282A>G (p.Asn19761Ser)
|
rs563969986
|
0.00014
|
|
NM_001267550.2(TTN):c.62425G>A (p.Ala20809Thr)
|
rs532844402
|
0.00014
|
|
NM_001267550.2(TTN):c.66590G>A (p.Arg22197Gln)
|
rs374656017
|
0.00014
|
|
NM_001267550.2(TTN):c.72182T>C (p.Met24061Thr)
|
rs200471370
|
0.00014
|
|
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn)
|
rs192468365
|
0.00014
|
|
NM_001267550.2(TTN):c.82103A>G (p.Asp27368Gly)
|
rs145373396
|
0.00014
|
|
NM_001267550.2(TTN):c.83870G>C (p.Arg27957Thr)
|
rs148067743
|
0.00014
|
|
NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln)
|
rs200843338
|
0.00014
|
|
NM_001267550.2(TTN):c.85745T>A (p.Ile28582Lys)
|
rs201688358
|
0.00014
|
|
NM_001267550.2(TTN):c.86002A>G (p.Ile28668Val)
|
rs72648225
|
0.00014
|
|
NM_001267550.2(TTN):c.86025G>A (p.Pro28675=)
|
rs369528150
|
0.00014
|
|
NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp)
|
rs72648235
|
0.00014
|
|
NM_001267550.2(TTN):c.89946C>T (p.Val29982=)
|
rs373311459
|
0.00014
|
|
NM_001267550.2(TTN):c.91119A>G (p.Lys30373=)
|
rs192167542
|
0.00014
|
|
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln)
|
rs374063064
|
0.00014
|
|
NM_001267550.2(TTN):c.96904+4T>C
|
rs373514079
|
0.00014
|
|
NM_001267550.2(TTN):c.9707C>T (p.Pro3236Leu)
|
rs146199720
|
0.00014
|
|
NM_001267550.2(TTN):c.97436G>A (p.Arg32479His)
|
rs369845358
|
0.00014
|
|
NM_001267550.2(TTN):c.97642C>T (p.Arg32548Cys)
|
rs377599569
|
0.00014
|
|
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=)
|
rs371656672
|
0.00014
|
|
NM_001277115.2(DNAH11):c.3425+5C>G
|
rs776140118
|
0.00014
|
|
NM_001277115.2(DNAH11):c.9499A>C (p.Thr3167Pro)
|
rs202224167
|
0.00014
|
|
NM_001282225.2(ADA2):c.1065C>A (p.Phe355Leu)
|
rs116020027
|
0.00014
|
|
NM_001291303.3(FAT4):c.11153G>A (p.Arg3718His)
|
rs139635339
|
0.00014
|
|
NM_001291303.3(FAT4):c.11822T>C (p.Val3941Ala)
|
rs578140620
|
0.00014
|
|
NM_001297.5(CNGB1):c.2869G>A (p.Val957Ile)
|
rs189261750
|
0.00014
|
|
NM_001330.5(CTF1):c.*5C>A
|
rs397516644
|
0.00014
|
|
NM_001330078.2(NRXN1):c.2036C>T (p.Pro679Leu)
|
rs201735573
|
0.00014
|
|
NM_001330360.2(POLA1):c.3090+6A>G
|
rs370956790
|
0.00014
|
|
NM_001349206.2(LPIN1):c.2163A>G (p.Arg721=)
|
rs369969697
|
0.00014
|
|
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu)
|
rs376210604
|
0.00014
|
|
NM_001353214.3(DYM):c.534A>G (p.Thr178=)
|
rs775696326
|
0.00014
|
|
NM_001355436.2(SPTB):c.2250C>T (p.Gly750=)
|
rs200908449
|
0.00014
|
|
NM_001358530.2(MOCS1):c.758-9C>T
|
rs368402544
|
0.00014
|
|
NM_001363711.2(DUOX2):c.1060C>T (p.Arg354Trp)
|
rs766496010
|
0.00014
|
|
NM_001365276.2(TNXB):c.4679C>T (p.Thr1560Met)
|
rs535714494
|
0.00014
|
|
NM_001365536.1(SCN9A):c.*2078C>T
|
rs548072061
|
0.00014
|
|
NM_001365999.1(SZT2):c.3638G>A (p.Arg1213His)
|
rs187427261
|
0.00014
|
|
NM_001365999.1(SZT2):c.4480+4T>C
|
rs377184977
|
0.00014
|
|
NM_001365999.1(SZT2):c.6961C>T (p.Pro2321Ser)
|
rs776699964
|
0.00014
|
|
NM_001367561.1(DOCK7):c.3300+8A>G
|
rs368422761
|
0.00014
|
|
NM_001367624.2(ZNF469):c.4422G>A (p.Ala1474=)
|
rs368877287
|
0.00014
|
|
NM_001367624.2(ZNF469):c.6227G>A (p.Arg2076Gln)
|
rs554464152
|
0.00014
|
|
NM_001367624.2(ZNF469):c.676G>A (p.Glu226Lys)
|
rs546141859
|
0.00014
|
|
NM_001367624.2(ZNF469):c.9620C>T (p.Ala3207Val)
|
rs563202944
|
0.00014
|
|
NM_001368894.2(PAX6):c.807+5C>T
|
rs376564909
|
0.00014
|
|
NM_001369.3(DNAH5):c.12189G>A (p.Gly4063=)
|
rs144879072
|
0.00014
|
|
NM_001369.3(DNAH5):c.1648G>A (p.Glu550Lys)
|
rs145962029
|
0.00014
|
|
NM_001369.3(DNAH5):c.4258A>G (p.Asn1420Asp)
|
rs201841311
|
0.00014
|
|
NM_001369.3(DNAH5):c.4596+5A>C
|
rs182677317
|
0.00014
|
|
NM_001369.3(DNAH5):c.6748G>A (p.Glu2250Lys)
|
rs201285946
|
0.00014
|
|
NM_001370259.2(MEN1):c.1351-4C>T
|
rs764408631
|
0.00014
|
|
NM_001370466.1(NOD2):c.1118C>T (p.Pro373Leu)
|
rs779346494
|
0.00014
|
|
NM_001370595.2(COA8):c.85G>A (p.Glu29Lys)
|
rs535382401
|
0.00014
|
|
NM_001371279.1(REEP1):c.518C>T (p.Pro173Leu)
|
rs777245164
|
0.00014
|
|
NM_001371727.1(GABRB2):c.1159C>T (p.Arg387Trp)
|
rs140795978
|
0.00014
|
|
NM_001374385.1(ATP8B1):c.2337C>T (p.Tyr779=)
|
rs764863689
|
0.00014
|
|
NM_001374385.1(ATP8B1):c.2928G>A (p.Ala976=)
|
rs201803908
|
0.00014
|
|
NM_001374736.1(DST):c.13361T>C (p.Leu4454Ser)
|
rs201758531
|
0.00014
|
|
NM_001374828.1(ARID1B):c.5678C>T (p.Ala1893Val)
|
rs201137071
|
0.00014
|
|
NM_001376.5(DYNC1H1):c.12102+6G>A
|
rs377669980
|
0.00014
|
|
NM_001377265.1(MAPT):c.1070C>T (p.Ser357Leu)
|
rs199644237
|
0.00014
|
|
NM_001378120.1(MBD5):c.826C>T (p.Pro276Ser)
|
rs376756158
|
0.00014
|
|
NM_001378452.1(ITPR1):c.1034G>A (p.Arg345Gln)
|
rs201804963
|
0.00014
|
|
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val)
|
rs201728850
|
0.00014
|
|
NM_001378454.1(ALMS1):c.356A>G (p.Gln119Arg)
|
rs371516347
|
0.00014
|
|
NM_001378609.3(OTOGL):c.1111C>T (p.His371Tyr)
|
rs78377084
|
0.00014
|
|
NM_001378615.1(CC2D2A):c.1731G>A (p.Ser577=)
|
rs376746356
|
0.00014
|
|
NM_001384732.1(CPLANE1):c.1655C>T (p.Thr552Met)
|
rs77739540
|
0.00014
|
|
NM_001393500.2(TOMT):c.110G>A (p.Arg37Gln)
|
rs188715129
|
0.00014
|
|
NM_001393500.2(TOMT):c.745A>C (p.Ile249Leu)
|
rs727503153
|
0.00014
|
|
NM_001453.3(FOXC1):c.78C>T (p.Tyr26=)
|
rs545478008
|
0.00014
|
|
NM_001457.4(FLNB):c.3886C>T (p.Pro1296Ser)
|
rs148350434
|
0.00014
|
|
NM_001457.4(FLNB):c.4590T>C (p.Tyr1530=)
|
rs141477764
|
0.00014
|
|
NM_001457.4(FLNB):c.7036C>T (p.Arg2346Cys)
|
rs149638325
|
0.00014
|
|
NM_001457.4(FLNB):c.864C>T (p.Asp288=)
|
rs141151998
|
0.00014
|
|
NM_001458.5(FLNC):c.1259G>A (p.Arg420Gln)
|
rs371410741
|
0.00014
|
|
NM_001458.5(FLNC):c.3242C>T (p.Ala1081Val)
|
rs200169573
|
0.00014
|
|
NM_001458.5(FLNC):c.4367G>C (p.Gly1456Ala)
|
rs775049569
|
0.00014
|
|
NM_001458.5(FLNC):c.5020G>A (p.Gly1674Ser)
|
rs374124083
|
0.00014
|
|
NM_001458.5(FLNC):c.5432G>A (p.Arg1811Gln)
|
rs369759751
|
0.00014
|
|
NM_001770.6(CD19):c.390T>A (p.Gly130=)
|
rs573154781
|
0.00014
|
|
NM_001793.6(CDH3):c.2042G>A (p.Arg681Gln)
|
rs758614807
|
0.00014
|
|
NM_001845.6(COL4A1):c.4845G>A (p.Glu1615=)
|
rs142326550
|
0.00014
|
|
NM_001848.3(COL6A1):c.1665C>T (p.Pro555=)
|
rs369802454
|
0.00014
|
|
NM_001848.3(COL6A1):c.348C>T (p.Ser116=)
|
rs189444981
|
0.00014
|
|
NM_001849.4(COL6A2):c.567C>T (p.Ala189=)
|
rs563505047
|
0.00014
|
|
NM_001853.4(COL9A3):c.1529C>T (p.Thr510Met)
|
rs200521238
|
0.00014
|
|
NM_001853.4(COL9A3):c.331C>T (p.Pro111Ser)
|
rs374503994
|
0.00014
|
|
NM_001854.4(COL11A1):c.4270G>C (p.Ala1424Pro)
|
rs371230505
|
0.00014
|
|
NM_001854.4(COL11A1):c.946A>G (p.Ser316Gly)
|
rs369794634
|
0.00014
|
|
NM_001875.5(CPS1):c.2236C>A (p.Pro746Thr)
|
rs139740322
|
0.00014
|
|
NM_001920.5(DCN):c.621T>G (p.Ile207Met)
|
rs373676217
|
0.00014
|
|
NM_001943.5(DSG2):c.3353C>T (p.Ser1118Phe)
|
rs368703304
|
0.00014
|
|
NM_001972.4(ELANE):c.428G>A (p.Arg143His)
|
rs200993994
|
0.00014
|
|
NM_001999.4(FBN2):c.2801G>A (p.Arg934Gln)
|
rs376194507
|
0.00014
|
|
NM_001999.4(FBN2):c.68C>G (p.Ala23Gly)
|
rs199560824
|
0.00014
|
|
NM_002109.6(HARS1):c.1372G>A (p.Ala458Thr)
|
rs891844407
|
0.00014
|
|
NM_002185.5(IL7R):c.1096T>C (p.Ser366Pro)
|
rs201671392
|
0.00014
|
|
NM_002225.5(IVD):c.879-5G>A
|
rs750569823
|
0.00014
|
|
NM_002241.5(KCNJ10):c.688C>T (p.Arg230Trp)
|
rs149615470
|
0.00014
|
|
NM_002336.3(LRP6):c.246A>T (p.Lys82Asn)
|
rs199693693
|
0.00014
|
|
NM_002473.6(MYH9):c.4024C>T (p.Arg1342Trp)
|
rs147901502
|
0.00014
|
|
NM_002473.6(MYH9):c.5378A>G (p.Lys1793Arg)
|
rs141440715
|
0.00014
|
|
NM_002474.3(MYH11):c.1017C>T (p.Ser339=)
|
rs112161189
|
0.00014
|
|
NM_002474.3(MYH11):c.5160C>T (p.Ser1720=)
|
rs199564260
|
0.00014
|
|
NM_002474.3(MYH11):c.5247G>A (p.Gln1749=)
|
rs757501817
|
0.00014
|
|
NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val)
|
rs112948385
|
0.00014
|
|
NM_002485.5(NBN):c.266G>C (p.Arg89Pro)
|
rs747315554
|
0.00014
|
|
NM_002485.5(NBN):c.456G>A (p.Met152Ile)
|
rs201816949
|
0.00014
|
|
NM_002529.4(NTRK1):c.584C>T (p.Thr195Met)
|
rs552776147
|
0.00014
|
|
NM_002615.7(SERPINF1):c.643+6C>T
|
rs199908714
|
0.00014
|
|
NM_002880.4(RAF1):c.680+6T>C
|
rs371846795
|
0.00014
|
|
NM_002907.4(RECQL):c.1465A>G (p.Ile489Val)
|
rs146077019
|
0.00014
|
|
NM_002979.5(SCP2):c.1074C>T (p.Gly358=)
|
rs74638331
|
0.00014
|
|
NM_002979.5(SCP2):c.15G>T (p.Pro5=)
|
rs147697594
|
0.00014
|
|
NM_003060.4(SLC22A5):c.1440C>T (p.Phe480=)
|
rs150457229
|
0.00014
|
|
NM_003098.3(SNTA1):c.287G>C (p.Gly96Ala)
|
rs766925398
|
0.00014
|
|
NM_003098.3(SNTA1):c.40G>A (p.Glu14Lys)
|
rs786205846
|
0.00014
|
|
NM_003126.4(SPTA1):c.4850G>A (p.Arg1617Gln)
|
rs564887323
|
0.00014
|
|
NM_003126.4(SPTA1):c.749G>A (p.Arg250His)
|
rs759192785
|
0.00014
|
|
NM_003331.5(TYK2):c.2102G>C (p.Arg701Thr)
|
rs200791116
|
0.00014
|
|
NM_003361.4(UMOD):c.1763G>A (p.Arg588Gln)
|
rs387907549
|
0.00014
|
|
NM_003482.4(KMT2D):c.10444C>T (p.Arg3482Trp)
|
rs201127814
|
0.00014
|
|
NM_003482.4(KMT2D):c.2847G>A (p.Pro949=)
|
rs369436545
|
0.00014
|
|
NM_003482.4(KMT2D):c.3813A>T (p.Leu1271=)
|
rs201794205
|
0.00014
|
|
NM_003482.4(KMT2D):c.5319+3G>A
|
rs372897046
|
0.00014
|
|
NM_003504.5(CDC45):c.1416C>T (p.His472=)
|
rs190155337
|
0.00014
|
|
NM_003560.4(PLA2G6):c.2259C>T (p.Val753=)
|
rs749966284
|
0.00014
|
|
NM_003640.5(ELP1):c.208C>T (p.Arg70Cys)
|
rs3737311
|
0.00014
|
|
NM_003664.5(AP3B1):c.2345C>T (p.Ser782Phe)
|
rs143589037
|
0.00014
|
|
NM_003721.4(RFXANK):c.660C>T (p.Ala220=)
|
rs138423094
|
0.00014
|
|
NM_003737.4(DCHS1):c.1103G>A (p.Ser368Asn)
|
rs373185353
|
0.00014
|
|
NM_003737.4(DCHS1):c.6422G>A (p.Arg2141Gln)
|
rs141488333
|
0.00014
|
|
NM_003850.3(SUCLA2):c.21C>T (p.Tyr7=)
|
rs374479008
|
0.00014
|
|
NM_003859.3(DPM1):c.759A>G (p.Leu253=)
|
rs769964944
|
0.00014
|
|
NM_003937.3(KYNU):c.291-7A>G
|
rs369879960
|
0.00014
|
|
NM_003978.5(PSTPIP1):c.1115C>T (p.Ala372Val)
|
rs200188483
|
0.00014
|
|
NM_004006.3(DMD):c.1603-4C>A
|
rs377223643
|
0.00014
|
|
NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe)
|
rs760733415
|
0.00014
|
|
NM_004006.3(DMD):c.4605G>A (p.Thr1535=)
|
rs374871728
|
0.00014
|
|
NM_004006.3(DMD):c.7578G>A (p.Gln2526=)
|
rs142236825
|
0.00014
|
|
NM_004035.7(ACOX1):c.1695T>C (p.Tyr565=)
|
rs774049893
|
0.00014
|
|
NM_004064.5(CDKN1B):c.482C>G (p.Ser161Cys)
|
rs373917399
|
0.00014
|
|
NM_004098.4(EMX2):c.653G>A (p.Gly218Asp)
|
rs200981903
|
0.00014
|
|
NM_004100.5(EYA4):c.1418G>T (p.Gly473Val)
|
rs146977269
|
0.00014
|
|
NM_004168.4(SDHA):c.991G>A (p.Ala331Thr)
|
rs200526913
|
0.00014
|
|
NM_004181.5(UCHL1):c.457C>T (p.Arg153Trp)
|
rs139583787
|
0.00014
|
|
NM_004278.4(PIGL):c.493A>C (p.Arg165=)
|
rs184077858
|
0.00014
|
|
NM_004281.4(BAG3):c.1634C>G (p.Pro545Arg)
|
rs759348679
|
0.00014
|
|
NM_004329.3(BMPR1A):c.1235T>C (p.Val412Ala)
|
rs576247658
|
0.00014
|
|
NM_004329.3(BMPR1A):c.676-6A>C
|
rs186999445
|
0.00014
|
|
NM_004380.3(CREBBP):c.3841G>A (p.Val1281Ile)
|
rs201874248
|
0.00014
|
|
NM_004380.3(CREBBP):c.6090G>A (p.Gln2030=)
|
rs374969185
|
0.00014
|
|
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr)
|
rs140965835
|
0.00014
|
|
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln)
|
rs138907450
|
0.00014
|
|
NM_004415.4(DSP):c.521G>T (p.Cys174Phe)
|
rs377507763
|
0.00014
|
|
NM_004453.4(ETFDH):c.1518G>A (p.Glu506=)
|
rs146882697
|
0.00014
|
|
NM_004484.4(GPC3):c.172C>T (p.Pro58Ser)
|
rs147231796
|
0.00014
|
|
NM_004565.3(PEX14):c.303C>T (p.Pro101=)
|
rs199552789
|
0.00014
|
|
NM_004629.2(FANCG):c.881G>A (p.Gly294Glu)
|
rs17880082
|
0.00014
|
|
NM_004655.4(AXIN2):c.1176G>A (p.Glu392=)
|
rs376052287
|
0.00014
|
|
NM_004667.6(HERC2):c.8329A>G (p.Met2777Val)
|
rs184647895
|
0.00014
|
|
NM_004793.4(LONP1):c.1379A>G (p.Asn460Ser)
|
rs373661439
|
0.00014
|
|
NM_004817.4(TJP2):c.1818G>A (p.Ser606=)
|
rs527789195
|
0.00014
|
|
NM_004817.4(TJP2):c.2081G>A (p.Gly694Glu)
|
rs201366118
|
0.00014
|
|
NM_004859.4(CLTC):c.3902C>T (p.Thr1301Ile)
|
rs373338446
|
0.00014
|
|
NM_004935.4(CDK5):c.651-9C>T
|
rs76486938
|
0.00014
|
|
NM_004991.4(MECOM):c.2219C>T (p.Ser740Phe)
|
rs201320721
|
0.00014
|
|
NM_004999.4(MYO6):c.2665A>G (p.Met889Val)
|
rs727505098
|
0.00014
|
|
NM_005045.4(RELN):c.1013T>G (p.Val338Gly)
|
rs200513558
|
0.00014
|
|
NM_005045.4(RELN):c.3411C>T (p.Gly1137=)
|
rs137974322
|
0.00014
|
|
NM_005045.4(RELN):c.7634C>T (p.Ala2545Val)
|
rs116634494
|
0.00014
|
|
NM_005045.4(RELN):c.8795C>A (p.Ser2932Tyr)
|
rs139225791
|
0.00014
|
|
NM_005045.4(RELN):c.9329G>A (p.Arg3110Gln)
|
rs368572382
|
0.00014
|
|
NM_005188.4(CBL):c.2513G>T (p.Gly838Val)
|
rs144191570
|
0.00014
|
|
NM_005235.3(ERBB4):c.2706C>T (p.Asp902=)
|
rs146441207
|
0.00014
|
|
NM_005262.3(GFER):c.536G>A (p.Arg179His)
|
rs199541169
|
0.00014
|
|
NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn)
|
rs138800446
|
0.00014
|
|
NM_005379.4(MYO1A):c.2804T>C (p.Ile935Thr)
|
rs372760228
|
0.00014
|
|
NM_005422.4(TECTA):c.6136G>A (p.Asp2046Asn)
|
rs769561057
|
0.00014
|
|
NM_005422.4(TECTA):c.6162C>T (p.Ile2054=)
|
rs140608882
|
0.00014
|
|
NM_005477.3(HCN4):c.2730C>A (p.Phe910Leu)
|
rs200814534
|
0.00014
|
|
NM_005502.4(ABCA1):c.1780G>A (p.Ala594Thr)
|
rs199655961
|
0.00014
|
|
NM_005502.4(ABCA1):c.6730G>A (p.Val2244Ile)
|
rs144588452
|
0.00014
|
|
NM_005529.7(HSPG2):c.5891G>A (p.Arg1964Lys)
|
rs373448635
|
0.00014
|
|
NM_005535.3(IL12RB1):c.1764C>T (p.Ser588=)
|
rs368969256
|
0.00014
|
|
NM_005546.4(ITK):c.1119A>G (p.Gln373=)
|
rs189091977
|
0.00014
|
|
NM_005751.5(AKAP9):c.10741T>G (p.Cys3581Gly)
|
rs149819328
|
0.00014
|
|
NM_005751.5(AKAP9):c.11714T>C (p.Met3905Thr)
|
rs77447750
|
0.00014
|
|
NM_005751.5(AKAP9):c.5048C>T (p.Thr1683Met)
|
rs146305558
|
0.00014
|
|
NM_005787.6(ALG3):c.606-8C>T
|
rs368253820
|
0.00014
|
|
NM_005857.5(ZMPSTE24):c.933A>G (p.Glu311=)
|
rs150740479
|
0.00014
|
|
NM_005859.5(PURA):c.621C>T (p.Asp207=)
|
rs142688247
|
0.00014
|
|
NM_005957.5(MTHFR):c.903G>A (p.Leu301=)
|
rs147979890
|
0.00014
|
|
NM_005993.5(TBCD):c.2368C>T (p.Arg790Trp)
|
rs200557085
|
0.00014
|
|
NM_005996.4(TBX3):c.1790C>T (p.Ala597Val)
|
rs200821102
|
0.00014
|
|
NM_006005.3(WFS1):c.1399C>T (p.Leu467=)
|
rs142700542
|
0.00014
|
|
NM_006005.3(WFS1):c.2054G>A (p.Arg685His)
|
rs142668478
|
0.00014
|
|
NM_006005.3(WFS1):c.2398A>G (p.Lys800Glu)
|
rs55674815
|
0.00014
|
|
NM_006031.6(PCNT):c.2458C>T (p.Arg820Cys)
|
rs369586175
|
0.00014
|
|
NM_006031.6(PCNT):c.4216+9C>T
|
rs369876466
|
0.00014
|
|
NM_006031.6(PCNT):c.5603C>T (p.Ala1868Val)
|
rs369038814
|
0.00014
|
|
NM_006031.6(PCNT):c.6895G>A (p.Asp2299Asn)
|
rs150156962
|
0.00014
|
|
NM_006031.6(PCNT):c.7459C>G (p.Leu2487Val)
|
rs201185279
|
0.00014
|
|
NM_006031.6(PCNT):c.8947C>T (p.Leu2983Phe)
|
rs372356069
|
0.00014
|
|
NM_006059.4(LAMC3):c.1051C>T (p.Arg351Cys)
|
rs201626968
|
0.00014
|
|
NM_006059.4(LAMC3):c.1688G>A (p.Arg563Gln)
|
rs150171154
|
0.00014
|
|
NM_006080.3(SEMA3A):c.1382T>C (p.Val461Ala)
|
rs144690677
|
0.00014
|
|
NM_006096.4(NDRG1):c.1134G>A (p.Ser378=)
|
rs750369546
|
0.00014
|
|
NM_006206.6(PDGFRA):c.1135T>G (p.Leu379Val)
|
rs199827643
|
0.00014
|
|
NM_006231.4(POLE):c.1583C>T (p.Thr528Met)
|
rs116263919
|
0.00014
|
|
NM_006231.4(POLE):c.3646G>A (p.Gly1216Ser)
|
rs200114024
|
0.00014
|
|
NM_006231.4(POLE):c.4237G>A (p.Glu1413Lys)
|
rs372901803
|
0.00014
|
|
NM_006231.4(POLE):c.6004+5G>T
|
rs372169366
|
0.00014
|
|
NM_006420.3(ARFGEF2):c.4812G>A (p.Lys1604=)
|
rs142036030
|
0.00014
|
|
NM_006502.3(POLH):c.491-4T>G
|
rs185508862
|
0.00014
|
|
NM_006514.4(SCN10A):c.1315A>G (p.Thr439Ala)
|
rs146536985
|
0.00014
|
|
NM_006514.4(SCN10A):c.4581G>A (p.Met1527Ile)
|
rs369978695
|
0.00014
|
|
NM_006767.4(LZTR1):c.2407-18G>A
|
rs542841506
|
0.00014
|
|
NM_006767.4(LZTR1):c.488C>T (p.Thr163Met)
|
rs200806641
|
0.00014
|
|
NM_006996.3(SLC19A2):c.688A>T (p.Ile230Phe)
|
rs770374931
|
0.00014
|
|
NM_007194.4(CHEK2):c.-4C>T
|
rs374938148
|
0.00014
|
|
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn)
|
rs143965148
|
0.00014
|
|
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)
|
rs587780179
|
0.00014
|
|
NM_007294.4(BRCA1):c.1561G>A (p.Ala521Thr)
|
rs80357122
|
0.00014
|
|
NM_007294.4(BRCA1):c.5194-18G>T
|
rs80358090
|
0.00014
|
|
NM_007315.4(STAT1):c.1632+6G>A
|
rs185216067
|
0.00014
|
|
NM_007327.4(GRIN1):c.1340C>A (p.Pro447His)
|
rs587780348
|
0.00014
|
|
NM_012062.5(DNM1L):c.422A>G (p.Asn141Ser)
|
rs138620818
|
0.00014
|
|
NM_012203.2(GRHPR):c.336C>T (p.Ala112=)
|
rs148778319
|
0.00014
|
|
NM_012254.3(SLC27A5):c.1827G>A (p.Gly609=)
|
rs143397900
|
0.00014
|
|
NM_012280.4(FTSJ1):c.762A>G (p.Leu254=)
|
rs143734567
|
0.00014
|
|
NM_012434.5(SLC17A5):c.1365A>G (p.Glu455=)
|
rs192599733
|
0.00014
|
|
NM_014043.4(CHMP2B):c.218C>T (p.Thr73Met)
|
rs192188850
|
0.00014
|
|
NM_014140.4(SMARCAL1):c.1413C>T (p.Ile471=)
|
rs149599324
|
0.00014
|
|
NM_014208.3(DSPP):c.713G>A (p.Gly238Asp)
|
rs199593367
|
0.00014
|
|
NM_014244.5(ADAMTS2):c.167G>A (p.Arg56His)
|
rs201167346
|
0.00014
|
|
NM_014251.3(SLC25A13):c.1275G>A (p.Ser425=)
|
rs376416252
|
0.00014
|
|
NM_014324.6(AMACR):c.844G>C (p.Glu282Gln)
|
rs181341030
|
0.00014
|
|
NM_014363.6(SACS):c.11048A>G (p.Asn3683Ser)
|
rs138609508
|
0.00014
|
|
NM_014476.6(PDLIM3):c.683C>T (p.Pro228Leu)
|
rs201185673
|
0.00014
|
|
NM_014639.4(SKIC3):c.3603A>G (p.Arg1201=)
|
rs376083373
|
0.00014
|
|
NM_014639.4(SKIC3):c.829G>A (p.Gly277Ser)
|
rs200385766
|
0.00014
|
|
NM_014714.4(IFT140):c.22C>G (p.Gln8Glu)
|
rs145267929
|
0.00014
|
|
NM_014727.3(KMT2B):c.5981C>T (p.Ala1994Val)
|
rs546000224
|
0.00014
|
|
NM_014855.3(AP5Z1):c.684C>T (p.Ser228=)
|
rs746349613
|
0.00014
|
|
NM_015102.5(NPHP4):c.3309C>T (p.His1103=)
|
rs200320780
|
0.00014
|
|
NM_015158.5(KANK1):c.151G>A (p.Asp51Asn)
|
rs201262082
|
0.00014
|
|
NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=)
|
rs141201084
|
0.00014
|
|
NM_015272.5(RPGRIP1L):c.530-15T>C
|
rs368728064
|
0.00014
|
|
NM_015311.3(OBSL1):c.3850G>A (p.Gly1284Ser)
|
rs74589174
|
0.00014
|
|
NM_015311.3(OBSL1):c.4745G>A (p.Gly1582Glu)
|
rs201690766
|
0.00014
|
|
NM_015338.6(ASXL1):c.3083C>T (p.Ser1028Leu)
|
rs200702600
|
0.00014
|
|
NM_015340.4(LARS2):c.1383T>C (p.Ile461=)
|
rs35347543
|
0.00014
|
|
NM_015346.4(ZFYVE26):c.2396C>T (p.Thr799Met)
|
rs200179480
|
0.00014
|
|
NM_015570.4(AUTS2):c.2251A>C (p.Thr751Pro)
|
rs372998593
|
0.00014
|
|
NM_015915.5(ATL1):c.1152A>G (p.Pro384=)
|
rs377127492
|
0.00014
|
|
NM_015937.6(PIGT):c.753G>A (p.Thr251=)
|
rs374179368
|
0.00014
|
|
NM_016169.4(SUFU):c.1058C>T (p.Thr353Met)
|
rs137880855
|
0.00014
|
|
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln)
|
rs145704867
|
0.00014
|
|
NM_016219.5(MAN1B1):c.1841G>A (p.Arg614His)
|
rs374247020
|
0.00014
|
|
NM_016239.4(MYO15A):c.4424T>C (p.Ile1475Thr)
|
rs201808265
|
0.00014
|
|
NM_016239.4(MYO15A):c.4875+3G>A
|
rs200246472
|
0.00014
|
|
NM_016239.4(MYO15A):c.829C>T (p.His277Tyr)
|
rs201541616
|
0.00014
|
|
NM_016327.3(UPB1):c.91G>A (p.Gly31Ser)
|
rs200145797
|
0.00014
|
|
NM_016343.4(CENPF):c.6826T>G (p.Cys2276Gly)
|
rs141620633
|
0.00014
|
|
NM_016356.5(DCDC2):c.349-9C>G
|
rs765613994
|
0.00014
|
|
NM_017617.5(NOTCH1):c.631A>G (p.Thr211Ala)
|
rs376902925
|
0.00014
|
|
NM_017617.5(NOTCH1):c.6509G>A (p.Ser2170Asn)
|
rs200254239
|
0.00014
|
|
NM_017636.4(TRPM4):c.742C>T (p.Arg248Cys)
|
rs373749900
|
0.00014
|
|
NM_017668.3(NDE1):c.990G>A (p.Arg330=)
|
rs143588920
|
0.00014
|
|
NM_017739.4(POMGNT1):c.420G>A (p.Thr140=)
|
rs146237009
|
0.00014
|
|
NM_017780.4(CHD7):c.1326C>A (p.Ala442=)
|
rs370097651
|
0.00014
|
|
NM_017780.4(CHD7):c.6775G>A (p.Ala2259Thr)
|
rs200806228
|
0.00014
|
|
NM_017802.4(DNAAF5):c.697G>A (p.Ala233Thr)
|
rs149139347
|
0.00014
|
|
NM_017999.5(RNF31):c.3048C>T (p.Asp1016=)
|
rs377298249
|
0.00014
|
|
NM_018136.5(ASPM):c.7569A>G (p.Gln2523=)
|
rs148494695
|
0.00014
|
|
NM_018139.3(DNAAF2):c.824C>T (p.Ala275Val)
|
rs200291432
|
0.00014
|
|
NM_018344.6(SLC29A3):c.1347G>A (p.Thr449=)
|
rs373404056
|
0.00014
|
|
NM_018451.5(CENPJ):c.2500C>T (p.Leu834=)
|
rs148738982
|
0.00014
|
|
NM_018699.4(PRDM5):c.1114G>A (p.Glu372Lys)
|
rs369580755
|
0.00014
|
|
NM_018941.4(CLN8):c.207G>A (p.Thr69=)
|
rs368365607
|
0.00014
|
|
NM_018979.4(WNK1):c.1834G>A (p.Gly612Ser)
|
rs146450828
|
0.00014
|
|
NM_019066.5(MAGEL2):c.2660G>A (p.Arg887Gln)
|
rs199772480
|
0.00014
|
|
NM_019066.5(MAGEL2):c.539T>C (p.Val180Ala)
|
rs58729661
|
0.00014
|
|
NM_020297.4(ABCC9):c.1332C>T (p.Gly444=)
|
rs369830406
|
0.00014
|
|
NM_020297.4(ABCC9):c.3316-4A>C
|
rs201147809
|
0.00014
|
|
NM_020451.3(SELENON):c.81C>T (p.Arg27=)
|
rs886038660
|
0.00014
|
|
NM_020533.3(MCOLN1):c.856C>A (p.His286Asn)
|
rs145191057
|
0.00014
|
|
NM_020745.4(AARS2):c.785G>A (p.Arg262Gln)
|
rs139974034
|
0.00014
|
|
NM_020779.4(WDR35):c.3252G>A (p.Glu1084=)
|
rs182360785
|
0.00014
|
|
NM_020822.3(KCNT1):c.1394C>T (p.Thr465Met)
|
rs539139475
|
0.00014
|
|
NM_020822.3(KCNT1):c.3058C>T (p.Arg1020Cys)
|
rs747605326
|
0.00014
|
|
NM_020937.4(FANCM):c.30G>A (p.Gln10=)
|
rs145745979
|
0.00014
|
|
NM_020975.6(RET):c.1063+9G>A
|
rs765463636
|
0.00014
|
|
NM_020975.6(RET):c.1699G>A (p.Asp567Asn)
|
rs147219360
|
0.00014
|
|
NM_020975.6(RET):c.2988G>A (p.Pro996=)
|
rs145798106
|
0.00014
|
|
NM_020987.5(ANK3):c.11251A>G (p.Ser3751Gly)
|
rs200489439
|
0.00014
|
|
NM_020987.5(ANK3):c.2385T>C (p.Asn795=)
|
rs372094828
|
0.00014
|
|
NM_021098.3(CACNA1H):c.1753C>T (p.Pro585Ser)
|
rs535609762
|
0.00014
|
|
NM_022089.4(ATP13A2):c.3472C>T (p.Arg1158Cys)
|
rs201610681
|
0.00014
|
|
NM_022114.4(PRDM16):c.1187-10G>C
|
rs201517837
|
0.00014
|
|
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln)
|
rs376560330
|
0.00014
|
|
NM_022124.6(CDH23):c.2940G>A (p.Thr980=)
|
rs373631099
|
0.00014
|
|
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val)
|
rs200635365
|
0.00014
|
|
NM_022124.6(CDH23):c.4498T>A (p.Ser1500Thr)
|
rs375641853
|
0.00014
|
|
NM_022124.6(CDH23):c.7362+14G>A
|
rs78158757
|
0.00014
|
|
NM_022124.6(CDH23):c.8309-3C>T
|
rs371910002
|
0.00014
|
|
NM_022132.5(MCCC2):c.114C>G (p.Gly38=)
|
rs750638270
|
0.00014
|
|
NM_022367.4(SEMA4A):c.90C>T (p.Thr30=)
|
rs373565051
|
0.00014
|
|
NM_022455.5(NSD1):c.816C>A (p.Asn272Lys)
|
rs144524958
|
0.00014
|
|
NM_022552.5(DNMT3A):c.1491T>C (p.Cys497=)
|
rs375421208
|
0.00014
|
|
NM_022773.4(LMF1):c.1471G>A (p.Asp491Asn)
|
rs532127028
|
0.00014
|
|
NM_023036.6(DNAI2):c.1202T>C (p.Met401Thr)
|
rs146769635
|
0.00014
|
|
NM_024120.5(NDUFAF5):c.752T>C (p.Met251Thr)
|
rs200199681
|
0.00014
|
|
NM_024306.5(FA2H):c.202A>G (p.Arg68Gly)
|
rs750198250
|
0.00014
|
|
NM_024685.4(BBS10):c.372T>A (p.Ser124=)
|
rs143366878
|
0.00014
|
|
NM_024753.5(TTC21B):c.549T>C (p.Gly183=)
|
rs141664029
|
0.00014
|
|
NM_024757.5(EHMT1):c.1135A>G (p.Lys379Glu)
|
rs146711478
|
0.00014
|
|
NM_025074.7(FRAS1):c.6286C>T (p.Arg2096Cys)
|
rs193229946
|
0.00014
|
|
NM_025137.4(SPG11):c.6877C>T (p.Arg2293Trp)
|
rs151317653
|
0.00014
|
|
NM_025193.4(HSD3B7):c.714C>T (p.His238=)
|
rs147510106
|
0.00014
|
|
NM_030665.4(RAI1):c.2004C>T (p.Pro668=)
|
rs398124414
|
0.00014
|
|
NM_030665.4(RAI1):c.5653G>A (p.Asp1885Asn)
|
rs147844401
|
0.00014
|
|
NM_030962.4(SBF2):c.2197C>G (p.Gln733Glu)
|
rs145199888
|
0.00014
|
|
NM_031418.4(ANO3):c.704A>G (p.Tyr235Cys)
|
rs144792604
|
0.00014
|
|
NM_032119.4(ADGRV1):c.12369A>G (p.Ile4123Met)
|
rs202228562
|
0.00014
|
|
NM_032119.4(ADGRV1):c.14224G>A (p.Glu4742Lys)
|
rs372362723
|
0.00014
|
|
NM_032119.4(ADGRV1):c.2456G>A (p.Ser819Asn)
|
rs182395524
|
0.00014
|
|
NM_032119.4(ADGRV1):c.2636C>T (p.Thr879Met)
|
rs201007778
|
0.00014
|
|
NM_032119.4(ADGRV1):c.5156C>T (p.Ala1719Val)
|
rs376126357
|
0.00014
|
|
NM_032119.4(ADGRV1):c.6029A>G (p.Lys2010Arg)
|
rs774354351
|
0.00014
|
|
NM_032119.4(ADGRV1):c.6119A>G (p.Tyr2040Cys)
|
rs374889159
|
0.00014
|
|
NM_032119.4(ADGRV1):c.6844A>G (p.Thr2282Ala)
|
rs369212457
|
0.00014
|
|
NM_032119.4(ADGRV1):c.8585A>G (p.Tyr2862Cys)
|
rs876657827
|
0.00014
|
|
NM_032383.5(HPS3):c.1711C>T (p.His571Tyr)
|
rs142027515
|
0.00014
|
|
NM_032444.4(SLX4):c.832C>T (p.Arg278Trp)
|
rs141597706
|
0.00014
|
|
NM_032977.4(CASP10):c.1297G>A (p.Glu433Lys)
|
rs200540853
|
0.00014
|
|
NM_033004.4(NLRP1):c.2341C>A (p.Pro781Thr)
|
rs201368394
|
0.00014
|
|
NM_033028.5(BBS4):c.1548_1549del (p.Ile516fs)
|
rs398124432
|
0.00014
|
|
NM_033100.4(CDHR1):c.1187A>G (p.Asn396Ser)
|
rs145353541
|
0.00014
|
|
NM_033100.4(CDHR1):c.1751C>T (p.Thr584Met)
|
rs754321329
|
0.00014
|
|
NM_033124.5(CCDC65):c.683A>T (p.Asp228Val)
|
rs142550817
|
0.00014
|
|
NM_052845.4(MMAB):c.444G>A (p.Gly148=)
|
rs117269384
|
0.00014
|
|
NM_052845.4(MMAB):c.678T>C (p.Tyr226=)
|
rs111678627
|
0.00014
|
|
NM_052859.4(RFT1):c.136G>A (p.Val46Ile)
|
rs141174358
|
0.00014
|
|
NM_052989.3(IFT122):c.2577G>A (p.Glu859=)
|
rs201077232
|
0.00014
|
|
NM_053025.4(MYLK):c.2919G>A (p.Pro973=)
|
rs149482336
|
0.00014
|
|
NM_053025.4(MYLK):c.3438C>T (p.Leu1146=)
|
rs146320279
|
0.00014
|
|
NM_053025.4(MYLK):c.3610C>T (p.Arg1204Trp)
|
rs151294221
|
0.00014
|
|
NM_053025.4(MYLK):c.3915C>T (p.Cys1305=)
|
rs371602931
|
0.00014
|
|
NM_054012.4(ASS1):c.1165A>G (p.Thr389Ala)
|
rs145288815
|
0.00014
|
|
NM_054012.4(ASS1):c.858A>T (p.Ala286=)
|
rs201905628
|
0.00014
|
|
NM_057176.3(BSND):c.102C>T (p.Tyr34=)
|
rs141403253
|
0.00014
|
|
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val)
|
rs149331537
|
0.00014
|
|
NM_058246.4(DNAJB6):c.410C>T (p.Thr137Met)
|
rs149027078
|
0.00014
|
|
NM_080646.2(TBX1):c.1162G>A (p.Val388Met)
|
rs375380772
|
0.00014
|
|
NM_080680.3(COL11A2):c.3654A>G (p.Ser1218=)
|
rs146962984
|
0.00014
|
|
NM_080680.3(COL11A2):c.3725C>T (p.Ser1242Leu)
|
rs534570825
|
0.00014
|
|
NM_080680.3(COL11A2):c.4959C>T (p.Tyr1653=)
|
rs140017436
|
0.00014
|
|
NM_130468.4(CHST14):c.765C>T (p.Gly255=)
|
rs148053059
|
0.00014
|
|
NM_133259.4(LRPPRC):c.2569A>G (p.Arg857Gly)
|
rs200138144
|
0.00014
|
|
NM_133433.4(NIPBL):c.2448T>C (p.Arg816=)
|
rs139177541
|
0.00014
|
|
NM_133497.4(KCNV2):c.441C>A (p.Asp147Glu)
|
rs146659188
|
0.00014
|
|
NM_138422.4(ADAT3):c.988G>A (p.Asp330Asn)
|
rs202206209
|
0.00014
|
|
NM_138694.4(PKHD1):c.1848A>T (p.Ala616=)
|
rs776570716
|
0.00014
|
|
NM_138694.4(PKHD1):c.2637G>A (p.Thr879=)
|
rs147915980
|
0.00014
|
|
NM_138694.4(PKHD1):c.977-7C>G
|
rs1054774956
|
0.00014
|
|
NM_138694.4(PKHD1):c.9913A>G (p.Ile3305Val)
|
rs145745489
|
0.00014
|
|
NM_138959.3(VANGL1):c.231G>A (p.Thr77=)
|
rs186509771
|
0.00014
|
|
NM_139076.3(ABRAXAS1):c.941A>G (p.Asn314Ser)
|
rs376489465
|
0.00014
|
|
NM_139343.3(BIN1):c.1003-11C>G
|
rs759676621
|
0.00014
|
|
NM_139343.3(BIN1):c.681G>A (p.Leu227=)
|
rs199658397
|
0.00014
|
|
NM_144670.6(A2ML1):c.1856G>C (p.Trp619Ser)
|
rs369180298
|
0.00014
|
|
NM_144672.4(OTOA):c.1806+4C>A
|
rs201545393
|
0.00014
|
|
NM_144997.7(FLCN):c.1463C>T (p.Ala488Val)
|
rs200660337
|
0.00014
|
|
NM_152564.5(VPS13B):c.10612G>A (p.Gly3538Arg)
|
rs150767461
|
0.00014
|
|
NM_152564.5(VPS13B):c.1843+10T>C
|
rs371154826
|
0.00014
|
|
NM_152564.5(VPS13B):c.2333+12A>T
|
rs373498932
|
0.00014
|
|
NM_152564.5(VPS13B):c.3083-8G>A
|
rs201973611
|
0.00014
|
|
NM_152564.5(VPS13B):c.4746-7T>C
|
rs201136777
|
0.00014
|
|
NM_152564.5(VPS13B):c.5223C>A (p.Ile1741=)
|
rs144223843
|
0.00014
|
|
NM_152564.5(VPS13B):c.7660G>C (p.Val2554Leu)
|
rs202226215
|
0.00014
|
|
NM_152564.5(VPS13B):c.934A>G (p.Thr312Ala)
|
rs780702951
|
0.00014
|
|
NM_152722.5(HEPACAM):c.803+8T>C
|
rs374953883
|
0.00014
|
|
NM_152783.5(D2HGDH):c.1515G>A (p.Leu505=)
|
rs376268002
|
0.00014
|
|
NM_153240.5(NPHP3):c.3504A>G (p.Ala1168=)
|
rs371505908
|
0.00014
|
|
NM_153603.4(COG7):c.1972G>A (p.Ala658Thr)
|
rs115073082
|
0.00014
|
|
NM_153603.4(COG7):c.904G>A (p.Val302Met)
|
rs116314856
|
0.00014
|
|
NM_153638.4(PANK2):c.12C>T (p.Leu4=)
|
rs774784800
|
0.00014
|
|
NM_153676.4(USH1C):c.790G>A (p.Val264Ile)
|
rs79875849
|
0.00014
|
|
NM_170601.5(SIAE):c.634G>A (p.Gly212Arg)
|
rs149466359
|
0.00014
|
|
NM_170699.3(GPBAR1):c.334A>G (p.Met112Val)
|
rs202032682
|
0.00014
|
|
NM_170784.3(MKKS):c.1553G>A (p.Arg518His)
|
rs149051148
|
0.00014
|
|
NM_173630.4(RTTN):c.5055A>G (p.Leu1685=)
|
rs372431222
|
0.00014
|
|
NM_175875.5(SIX5):c.714C>G (p.Thr238=)
|
rs758444909
|
0.00014
|
|
NM_177924.5(ASAH1):c.88G>A (p.Asp30Asn)
|
rs200758704
|
0.00014
|
|
NM_181507.2(HPS5):c.1514A>G (p.Asn505Ser)
|
rs143265437
|
0.00014
|
|
NM_182914.3(SYNE2):c.14574A>G (p.Ile4858Met)
|
rs568071525
|
0.00014
|
|
NM_182914.3(SYNE2):c.7310A>G (p.Asn2437Ser)
|
rs373880647
|
0.00014
|
|
NM_182914.3(SYNE2):c.8911C>G (p.Gln2971Glu)
|
rs200909650
|
0.00014
|
|
NM_182961.4(SYNE1):c.12615G>A (p.Ser4205=)
|
rs138650597
|
0.00014
|
|
NM_182961.4(SYNE1):c.16573-3C>T
|
rs376927135
|
0.00014
|
|
NM_182961.4(SYNE1):c.19026C>T (p.Asp6342=)
|
rs370053768
|
0.00014
|
|
NM_182961.4(SYNE1):c.7076C>A (p.Thr2359Asn)
|
rs142747430
|
0.00014
|
|
NM_198859.4(PRICKLE2):c.2103G>T (p.Leu701=)
|
rs200220646
|
0.00014
|
|
NM_198904.4(GABRG2):c.243T>A (p.Leu81=)
|
rs143295869
|
0.00014
|
|
NM_201384.3(PLEC):c.11476C>T (p.Arg3826Cys)
|
rs781836500
|
0.00014
|
|
NM_201384.3(PLEC):c.12671C>G (p.Ala4224Gly)
|
rs368212208
|
0.00014
|
|
NM_201384.3(PLEC):c.1283C>T (p.Ala428Val)
|
rs200893203
|
0.00014
|
|
NM_201384.3(PLEC):c.1305G>A (p.Ala435=)
|
rs369877618
|
0.00014
|
|
NM_201384.3(PLEC):c.13242C>T (p.Arg4414=)
|
rs200589588
|
0.00014
|
|
NM_201384.3(PLEC):c.2477A>G (p.Asp826Gly)
|
rs369344419
|
0.00014
|
|
NM_201384.3(PLEC):c.4587C>T (p.Arg1529=)
|
rs369723574
|
0.00014
|
|
NM_201384.3(PLEC):c.6786G>A (p.Thr2262=)
|
rs373922545
|
0.00014
|
|
NM_201384.3(PLEC):c.772C>T (p.Leu258=)
|
rs372233686
|
0.00014
|
|
NM_201525.4(ADGRG1):c.1188C>T (p.Asp396=)
|
rs368883473
|
0.00014
|
|
NM_201525.4(ADGRG1):c.1287-6G>A
|
rs112805221
|
0.00014
|
|
NM_201525.4(ADGRG1):c.760C>T (p.Arg254Trp)
|
rs368130981
|
0.00014
|
|
NM_201596.3(CACNB2):c.1696G>A (p.Ala566Thr)
|
rs202218948
|
0.00014
|
|
NM_205861.3(DHDDS):c.990T>C (p.Thr330=)
|
rs773902080
|
0.00014
|
|
NM_206933.4(USH2A):c.12790G>A (p.Glu4264Lys)
|
rs200792578
|
0.00014
|
|
NM_206933.4(USH2A):c.14517G>A (p.Thr4839=)
|
rs397517991
|
0.00014
|
|
NM_206933.4(USH2A):c.1581C>T (p.Cys527=)
|
rs140331348
|
0.00014
|
|
NM_000020.3(ACVRL1):c.465C>T (p.Ser155=)
|
rs143735377
|
0.00013
|
|
NM_000023.4(SGCA):c.328C>T (p.Arg110Trp)
|
rs200137051
|
0.00013
|
|
NM_000023.4(SGCA):c.408C>T (p.Ala136=)
|
rs143551687
|
0.00013
|
|
NM_000023.4(SGCA):c.819G>T (p.Pro273=)
|
rs35972733
|
0.00013
|
|
NM_000023.4(SGCA):c.981C>T (p.Ser327=)
|
rs368522117
|
0.00013
|
|
NM_000033.4(ABCD1):c.2044G>C (p.Glu682Gln)
|
rs781793261
|
0.00013
|
|
NM_000037.4(ANK1):c.2982G>A (p.Pro994=)
|
rs139623406
|
0.00013
|
|
NM_000046.5(ARSB):c.1533C>T (p.Pro511=)
|
rs528157833
|
0.00013
|
|
NM_000048.4(ASL):c.1056G>A (p.Thr352=)
|
rs745476328
|
0.00013
|
|
NM_000051.4(ATM):c.1773T>C (p.Asn591=)
|
rs61734356
|
0.00013
|
|
NM_000051.4(ATM):c.2606C>G (p.Ala869Gly)
|
rs145513717
|
0.00013
|
|
NM_000051.4(ATM):c.8671+9T>G
|
rs200190537
|
0.00013
|
|
NM_000053.4(ATP7B):c.1426G>A (p.Ala476Thr)
|
rs139289704
|
0.00013
|
|
NM_000053.4(ATP7B):c.1544-12T>C
|
rs201167060
|
0.00013
|
|
NM_000057.4(BLM):c.1519G>A (p.Glu507Lys)
|
rs192491153
|
0.00013
|
|
NM_000057.4(BLM):c.3828G>A (p.Ala1276=)
|
rs369383272
|
0.00013
|
|
NM_000057.4(BLM):c.4113G>A (p.Thr1371=)
|
rs61754135
|
0.00013
|
|
NM_000059.4(BRCA2):c.2274T>G (p.Ser758Arg)
|
rs142243359
|
0.00013
|
|
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val)
|
rs80358589
|
0.00013
|
|
NM_000069.3(CACNA1S):c.93G>C (p.Leu31Phe)
|
rs556751671
|
0.00013
|
|
NM_000070.3(CAPN3):c.1800+12G>A
|
rs542523863
|
0.00013
|
|
NM_000070.3(CAPN3):c.2071G>A (p.Gly691Arg)
|
rs140425651
|
0.00013
|
|
NM_000071.3(CBS):c.1072G>A (p.Val358Met)
|
rs148589243
|
0.00013
|
|
NM_000071.3(CBS):c.133C>T (p.Arg45Trp)
|
rs201372812
|
0.00013
|
|
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser)
|
rs144890720
|
0.00013
|
|
NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr)
|
rs149316679
|
0.00013
|
|
NM_000085.5(CLCNKB):c.112T>C (p.Trp38Arg)
|
rs375301415
|
0.00013
|
|
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His)
|
rs144751329
|
0.00013
|
|
NM_000088.4(COL1A1):c.627C>T (p.Gly209=)
|
rs201136122
|
0.00013
|
|
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=)
|
rs142352627
|
0.00013
|
|
NM_000090.4(COL3A1):c.3019G>A (p.Ala1007Thr)
|
rs201220788
|
0.00013
|
|
NM_000090.4(COL3A1):c.3299G>A (p.Arg1100His)
|
rs370069953
|
0.00013
|
|
NM_000094.4(COL7A1):c.2277C>T (p.Gly759=)
|
rs144756110
|
0.00013
|
|
NM_000094.4(COL7A1):c.8359-17T>A
|
rs200207978
|
0.00013
|
|
NM_000096.4(CP):c.93G>A (p.Thr31=)
|
rs201521886
|
0.00013
|
|
NM_000130.5(F5):c.4347G>A (p.Pro1449=)
|
rs145732153
|
0.00013
|
|
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala)
|
rs200713354
|
0.00013
|
|
NM_000141.5(FGFR2):c.568C>T (p.Arg190Trp)
|
rs147987917
|
0.00013
|
|
NM_000152.5(GAA):c.2381G>A (p.Arg794His)
|
rs200505871
|
0.00013
|
|
NM_000162.5(GCK):c.1288C>T (p.Leu430=)
|
rs193922276
|
0.00013
|
|
NM_000179.3(MSH6):c.187T>C (p.Ser63Pro)
|
rs763702846
|
0.00013
|
|
NM_000179.3(MSH6):c.59C>T (p.Ala20Val)
|
rs63750664
|
0.00013
|
|
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly)
|
rs554012110
|
0.00013
|
|
NM_000187.4(HGD):c.1176C>T (p.Ala392=)
|
rs368805723
|
0.00013
|
|
NM_000198.4(HSD3B2):c.308-8G>A
|
rs371712928
|
0.00013
|
|
NM_000211.5(ITGB2):c.714C>T (p.Asp238=)
|
rs752901414
|
0.00013
|
|
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp)
|
rs199472776
|
0.00013
|
|
NM_000218.3(KCNQ1):c.759C>T (p.Ser253=)
|
rs752457145
|
0.00013
|
|
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val)
|
rs199472728
|
0.00013
|
|
NM_000237.3(LPL):c.528C>G (p.Val176=)
|
rs199606532
|
0.00013
|
|
NM_000246.4(CIITA):c.3003C>T (p.Asp1001=)
|
rs143497260
|
0.00013
|
|
NM_000251.3(MSH2):c.-3G>C
|
rs587779960
|
0.00013
|
|
NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys)
|
rs202145681
|
0.00013
|
|
NM_000251.3(MSH2):c.505A>G (p.Ile169Val)
|
rs63750716
|
0.00013
|
|
NM_000255.4(MMUT):c.385+14G>A
|
rs199992904
|
0.00013
|
|
NM_000256.3(MYBPC3):c.3326C>T (p.Thr1109Ile)
|
rs397516016
|
0.00013
|
|
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr)
|
rs45478699
|
0.00013
|
|
NM_000257.4(MYH7):c.3726+6C>T
|
rs377745688
|
0.00013
|
|
NM_000260.4(MYO7A):c.3384G>C (p.Lys1128Asn)
|
rs372050452
|
0.00013
|
|
NM_000268.4(NF2):c.1439C>T (p.Thr480Met)
|
rs145666157
|
0.00013
|
|
NM_000271.5(NPC1):c.3558C>T (p.Arg1186=)
|
rs141659629
|
0.00013
|
|
NM_000274.4(OAT):c.1160-13T>A
|
rs372850085
|
0.00013
|
|
NM_000274.4(OAT):c.736C>T (p.Leu246=)
|
rs146882296
|
0.00013
|
|
NM_000293.3(PHKB):c.2197-10A>T
|
rs750018974
|
0.00013
|
|
NM_000295.5(SERPINA1):c.918-4A>G
|
rs367822021
|
0.00013
|
|
NM_000314.6(PTEN):c.-909T>C
|
rs550385924
|
0.00013
|
|
NM_000335.5(SCN5A):c.1891-8G>A
|
rs12720064
|
0.00013
|
|
NM_000335.5(SCN5A):c.3837+12C>T
|
rs368550655
|
0.00013
|
|
NM_000350.3(ABCA4):c.741C>T (p.Asn247=)
|
rs372976742
|
0.00013
|
|
NM_000352.6(ABCC8):c.1818-6G>A
|
rs368708177
|
0.00013
|
|
NM_000352.6(ABCC8):c.3984C>T (p.Leu1328=)
|
rs368419322
|
0.00013
|
|
NM_000384.3(APOB):c.2611G>A (p.Ala871Thr)
|
rs144622446
|
0.00013
|
|
NM_000384.3(APOB):c.3049A>C (p.Ser1017Arg)
|
rs149323475
|
0.00013
|
|
NM_000387.6(SLC25A20):c.535+6C>T
|
rs199770033
|
0.00013
|
|
NM_000392.5(ABCC2):c.2714G>A (p.Arg905Lys)
|
rs201874841
|
0.00013
|
|
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=)
|
rs933589600
|
0.00013
|
|
NM_000414.4(HSD17B4):c.11C>G (p.Pro4Arg)
|
rs142889209
|
0.00013
|
|
NM_000426.4(LAMA2):c.3429C>A (p.Ile1143=)
|
rs200646230
|
0.00013
|
|
NM_000426.4(LAMA2):c.8298C>T (p.Phe2766=)
|
rs145295628
|
0.00013
|
|
NM_000428.3(LTBP2):c.3373C>T (p.Arg1125Trp)
|
rs201501300
|
0.00013
|
|
NM_000430.4(PAFAH1B1):c.958A>G (p.Ile320Val)
|
rs144659773
|
0.00013
|
|
NM_000435.3(NOTCH3):c.3569G>A (p.Arg1190His)
|
rs372241697
|
0.00013
|
|
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met)
|
rs199620476
|
0.00013
|
|
NM_000440.3(PDE6A):c.594G>A (p.Val198=)
|
rs398123394
|
0.00013
|
|
NM_000441.2(SLC26A4):c.1905G>A (p.Glu635=)
|
rs541538556
|
0.00013
|
|
NM_000455.5(STK11):c.1071G>T (p.Glu357Asp)
|
rs556651007
|
0.00013
|
|
NM_000463.3(UGT1A1):c.1026A>T (p.Pro342=)
|
rs747062491
|
0.00013
|
|
NM_000465.4(BARD1):c.659T>C (p.Leu220Ser)
|
rs138593305
|
0.00013
|
|
NM_000492.4(CFTR):c.1679+16T>C
|
rs397508262
|
0.00013
|
|
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val)
|
rs555292896
|
0.00013
|
|
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys)
|
rs63750649
|
0.00013
|
|
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu)
|
rs374704824
|
0.00013
|
|
NM_000540.3(RYR1):c.11450A>T (p.Asp3817Val)
|
rs372491219
|
0.00013
|
|
NM_000540.3(RYR1):c.11517C>T (p.Ser3839=)
|
rs151239950
|
0.00013
|
|
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His)
|
rs768360593
|
0.00013
|
|
NM_000540.3(RYR1):c.2654G>A (p.Arg885His)
|
rs370634440
|
0.00013
|
|
NM_000540.3(RYR1):c.5548-19C>G
|
rs375020048
|
0.00013
|
|
NM_000540.3(RYR1):c.6251G>A (p.Arg2084Gln)
|
rs143681974
|
0.00013
|
|
NM_000540.3(RYR1):c.7672G>A (p.Val2558Met)
|
rs771523641
|
0.00013
|
|
NM_000540.3(RYR1):c.8079G>A (p.Pro2693=)
|
rs368063600
|
0.00013
|
|
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His)
|
rs147303895
|
0.00013
|
|
NM_000545.8(HNF1A):c.-96T>G
|
rs576862555
|
0.00013
|
|
NM_000545.8(HNF1A):c.521C>T (p.Ala174Val)
|
rs201934320
|
0.00013
|
|
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala)
|
rs45517284
|
0.00013
|
|
NM_000551.4(VHL):c.629G>A (p.Arg210Gln)
|
rs138780791
|
0.00013
|
|
NM_000709.4(BCKDHA):c.663C>T (p.Tyr221=)
|
rs151227241
|
0.00013
|
|
NM_000726.5(CACNB4):c.1355G>A (p.Arg452Lys)
|
rs762394421
|
0.00013
|
|
NM_000744.7(CHRNA4):c.1459C>T (p.Arg487Trp)
|
rs200200279
|
0.00013
|
|
NM_000751.3(CHRND):c.1480T>C (p.Tyr494His)
|
rs368695808
|
0.00013
|
|
NM_000875.5(IGF1R):c.84G>A (p.Thr28=)
|
rs372748482
|
0.00013
|
|
NM_001005242.3(PKP2):c.1379-2018G>A
|
rs369518480
|
0.00013
|
|
NM_001008537.3(NEXMIF):c.2951A>G (p.Asn984Ser)
|
rs375623451
|
0.00013
|
|
NM_001009944.3(PKD1):c.6484C>T (p.Arg2162Trp)
|
rs373256534
|
0.00013
|
|
NM_001031679.3(MSRB3):c.-67G>C
|
rs368104588
|
0.00013
|
|
NM_001035.3(RYR2):c.14703G>C (p.Val4901=)
|
rs201371633
|
0.00013
|
|
NM_001035.3(RYR2):c.3153C>T (p.Arg1051=)
|
rs397516524
|
0.00013
|
|
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys)
|
rs193922624
|
0.00013
|
|
NM_001035.3(RYR2):c.5373C>A (p.Thr1791=)
|
rs765283048
|
0.00013
|
|
NM_001035.3(RYR2):c.9963G>A (p.Pro3321=)
|
rs199730192
|
0.00013
|
|
NM_001039141.3(TRIOBP):c.6515G>A (p.Arg2172Gln)
|
rs200528850
|
0.00013
|
|
NM_001039591.3(USP9X):c.6360A>G (p.Ile2120Met)
|
rs201128029
|
0.00013
|
|
NM_001039958.2(MESP2):c.306C>A (p.His102Gln)
|
rs77473319
|
0.00013
|
|
NM_001042492.3(NF1):c.7026G>A (p.Leu2342=)
|
rs371581213
|
0.00013
|
|
NM_001080.3(ALDH5A1):c.*7T>C
|
rs199767765
|
0.00013
|
|
NM_001083961.2(WDR62):c.2766C>T (p.Arg922=)
|
rs373906889
|
0.00013
|
|
NM_001083961.2(WDR62):c.391-10C>T
|
rs201568145
|
0.00013
|
|
NM_001103.4(ACTN2):c.1040C>T (p.Thr347Met)
|
rs727504590
|
0.00013
|
|
NM_001104631.2(PDE4D):c.125C>A (p.Pro42Gln)
|
rs372946517
|
0.00013
|
|
NM_001105206.3(LAMA4):c.1277T>C (p.Met426Thr)
|
rs200112094
|
0.00013
|
|
NM_001105206.3(LAMA4):c.1673C>T (p.Ala558Val)
|
rs137893207
|
0.00013
|
|
NM_001110556.2(FLNA):c.2725G>A (p.Val909Ile)
|
rs199911951
|
0.00013
|
|
NM_001122752.2(SERPINI1):c.508A>G (p.Arg170Gly)
|
rs774989939
|
0.00013
|
|
NM_001123385.2(BCOR):c.519C>T (p.Ser173=)
|
rs138917640
|
0.00013
|
|
NM_001127222.2(CACNA1A):c.3043G>A (p.Gly1015Arg)
|
rs190551509
|
0.00013
|
|
NM_001127222.2(CACNA1A):c.539+9C>T
|
rs369146237
|
0.00013
|
|
NM_001127511.3(APC):c.119G>C (p.Ser40Thr)
|
rs587778028
|
0.00013
|
|
NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser)
|
rs143815396
|
0.00013
|
|
NM_001128840.3(CACNA1D):c.5971C>T (p.Arg1991Trp)
|
rs367976757
|
0.00013
|
|
NM_001130823.3(DNMT1):c.2667C>T (p.Tyr889=)
|
rs199832007
|
0.00013
|
|
NM_001130823.3(DNMT1):c.382C>A (p.Pro128Thr)
|
rs146601335
|
0.00013
|
|
NM_001130987.2(DYSF):c.3541G>A (p.Asp1181Asn)
|
rs139194093
|
0.00013
|
|
NM_001130987.2(DYSF):c.5785-8C>T
|
rs201191038
|
0.00013
|
|
NM_001134831.2(AHI1):c.2808A>G (p.Thr936=)
|
rs373772212
|
0.00013
|
|
NM_001142800.2(EYS):c.5104T>C (p.Leu1702=)
|
rs564151798
|
0.00013
|
|
NM_001145809.2(MYH14):c.1229G>A (p.Arg410His)
|
rs374720181
|
0.00013
|
|
NM_001145809.2(MYH14):c.2864G>A (p.Arg955Gln)
|
rs576611342
|
0.00013
|
|
NM_001145809.2(MYH14):c.4740C>T (p.Asp1580=)
|
rs751909208
|
0.00013
|
|
NM_001145809.2(MYH14):c.4752C>T (p.Ser1584=)
|
rs377081835
|
0.00013
|
|
NM_001145809.2(MYH14):c.810C>T (p.Phe270=)
|
rs374146214
|
0.00013
|
|
NM_001148.6(ANK2):c.11119G>A (p.Asp3707Asn)
|
rs199549660
|
0.00013
|
|
NM_001148.6(ANK2):c.7436A>G (p.Lys2479Arg)
|
rs201619005
|
0.00013
|
|
NM_001148.6(ANK2):c.8239C>T (p.Arg2747Cys)
|
rs376628082
|
0.00013
|
|
NM_001148.6(ANK2):c.8892C>G (p.Ile2964Met)
|
rs62313245
|
0.00013
|
|
NM_001164508.2(NEB):c.1119G>A (p.Arg373=)
|
rs200914626
|
0.00013
|
|
NM_001164508.2(NEB):c.1550A>G (p.Asn517Ser)
|
rs199710125
|
0.00013
|
|
NM_001164508.2(NEB):c.61G>A (p.Glu21Lys)
|
rs199907781
|
0.00013
|
|
NM_001164508.2(NEB):c.9195C>T (p.His3065=)
|
rs374734631
|
0.00013
|
|
NM_001182.5(ALDH7A1):c.552C>T (p.Pro184=)
|
rs369859575
|
0.00013
|
|
NM_001243177.4(ALDOA):c.922G>A (p.Val308Ile)
|
rs142759891
|
0.00013
|
|
NM_001256317.3(TMPRSS3):c.239G>A (p.Arg80His)
|
rs146159479
|
0.00013
|
|
NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser)
|
rs397517783
|
0.00013
|
|
NM_001267550.2(TTN):c.10115-4G>A
|
rs367648529
|
0.00013
|
|
NM_001267550.2(TTN):c.103912C>T (p.Arg34638Cys)
|
rs374444254
|
0.00013
|
|
NM_001267550.2(TTN):c.106837T>G (p.Ser35613Ala)
|
rs374405802
|
0.00013
|
|
NM_001267550.2(TTN):c.16091G>A (p.Arg5364His)
|
rs200941841
|
0.00013
|
|
NM_001267550.2(TTN):c.16480G>A (p.Gly5494Arg)
|
rs727504697
|
0.00013
|
|
NM_001267550.2(TTN):c.1742C>T (p.Pro581Leu)
|
rs199778910
|
0.00013
|
|
NM_001267550.2(TTN):c.20418A>C (p.Lys6806Asn)
|
rs768932465
|
0.00013
|
|
NM_001267550.2(TTN):c.23925C>T (p.Ser7975=)
|
rs374879942
|
0.00013
|
|
NM_001267550.2(TTN):c.28131C>T (p.Asn9377=)
|
rs72648997
|
0.00013
|
|
NM_001267550.2(TTN):c.28320C>T (p.Gly9440=)
|
rs375083775
|
0.00013
|
|
NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys)
|
rs72650035
|
0.00013
|
|
NM_001267550.2(TTN):c.35313G>A (p.Pro11771=)
|
rs369739111
|
0.00013
|
|
NM_001267550.2(TTN):c.3619C>A (p.Pro1207Thr)
|
rs373753003
|
0.00013
|
|
NM_001267550.2(TTN):c.36803C>G (p.Pro12268Arg)
|
rs997014833
|
0.00013
|
|
NM_001267550.2(TTN):c.43417G>C (p.Asp14473His)
|
rs397517573
|
0.00013
|
|
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln)
|
rs200944827
|
0.00013
|
|
NM_001267550.2(TTN):c.50452G>A (p.Glu16818Lys)
|
rs397517600
|
0.00013
|
|
NM_001267550.2(TTN):c.54796G>T (p.Ala18266Ser)
|
rs199837769
|
0.00013
|
|
NM_001267550.2(TTN):c.62534C>G (p.Thr20845Arg)
|
rs727505316
|
0.00013
|
|
NM_001267550.2(TTN):c.6359G>A (p.Arg2120Gln)
|
rs141142920
|
0.00013
|
|
NM_001267550.2(TTN):c.68640G>A (p.Lys22880=)
|
rs370292933
|
0.00013
|
|
NM_001267550.2(TTN):c.75527G>A (p.Arg25176His)
|
rs375693396
|
0.00013
|
|
NM_001267550.2(TTN):c.7711G>A (p.Glu2571Lys)
|
rs149660690
|
0.00013
|
|
NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser)
|
rs199929362
|
0.00013
|
|
NM_001267550.2(TTN):c.82981C>T (p.Pro27661Ser)
|
rs201422612
|
0.00013
|
|
NM_001267550.2(TTN):c.8434G>C (p.Val2812Leu)
|
rs146636599
|
0.00013
|
|
NM_001267550.2(TTN):c.85769G>A (p.Arg28590Gln)
|
rs375667028
|
0.00013
|
|
NM_001267550.2(TTN):c.86355T>C (p.Asn28785=)
|
rs745857020
|
0.00013
|
|
NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile)
|
rs201687390
|
0.00013
|
|
NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser)
|
rs72648240
|
0.00013
|
|
NM_001267550.2(TTN):c.91426G>A (p.Val30476Ile)
|
rs377531244
|
0.00013
|
|
NM_001267550.2(TTN):c.92333C>G (p.Thr30778Arg)
|
rs201019681
|
0.00013
|
|
NM_001267550.2(TTN):c.95082C>T (p.Ser31694=)
|
rs776679937
|
0.00013
|
|
NM_001267550.2(TTN):c.95094C>T (p.Ala31698=)
|
rs373509153
|
0.00013
|
|
NM_001277115.2(DNAH11):c.3412T>C (p.Phe1138Leu)
|
rs200099996
|
0.00013
|
|
NM_001277115.2(DNAH11):c.5740G>T (p.Val1914Phe)
|
rs201671992
|
0.00013
|
|
NM_001291303.3(FAT4):c.1099G>A (p.Val367Ile)
|
rs747531733
|
0.00013
|
|
NM_001291303.3(FAT4):c.4549A>C (p.Ile1517Leu)
|
rs374899663
|
0.00013
|
|
NM_001292063.2(OTOG):c.883G>A (p.Val295Met)
|
rs186310325
|
0.00013
|
|
NM_001330.5(CTF1):c.145-13C>T
|
rs397516646
|
0.00013
|
|
NM_001330078.2(NRXN1):c.2459G>A (p.Ser820Asn)
|
rs80293130
|
0.00013
|
|
NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser)
|
rs139364109
|
0.00013
|
|
NM_001355436.2(SPTB):c.5943C>T (p.Arg1981=)
|
rs75000411
|
0.00013
|
|
NM_001358921.2(COQ2):c.-23C>G
|
rs368891722
|
0.00013
|
|
NM_001365088.1(SLC12A6):c.2565G>A (p.Thr855=)
|
rs201062811
|
0.00013
|
|
NM_001365276.2(TNXB):c.2981G>A (p.Arg994His)
|
rs372167278
|
0.00013
|
|
NM_001365276.2(TNXB):c.4894A>G (p.Ile1632Val)
|
rs766602645
|
0.00013
|
|
NM_001365276.2(TNXB):c.7694C>T (p.Ala2565Val)
|
rs199719197
|
0.00013
|
|
NM_001365276.2(TNXB):c.8761G>A (p.Val2921Met)
|
rs529485424
|
0.00013
|
|
NM_001365276.2(TNXB):c.9637A>G (p.Arg3213Gly)
|
rs377386505
|
0.00013
|
|
NM_001365999.1(SZT2):c.8255G>A (p.Arg2752His)
|
rs150591561
|
0.00013
|
|
NM_001365999.1(SZT2):c.8424G>A (p.Leu2808=)
|
rs372935996
|
0.00013
|
|
NM_001366110.1(PAX4):c.571C>T (p.Arg191Cys)
|
rs114315130
|
0.00013
|
|
NM_001367624.2(ZNF469):c.10889G>A (p.Arg3630His)
|
rs758123475
|
0.00013
|
|
NM_001367624.2(ZNF469):c.11107G>A (p.Val3703Met)
|
rs151127652
|
0.00013
|
|
NM_001367624.2(ZNF469):c.4595G>A (p.Arg1532Gln)
|
rs911235059
|
0.00013
|
|
NM_001367624.2(ZNF469):c.8785G>A (p.Glu2929Lys)
|
rs578166707
|
0.00013
|
|
NM_001369.3(DNAH5):c.2306C>T (p.Ala769Val)
|
rs200101760
|
0.00013
|
|
NM_001369.3(DNAH5):c.2571G>A (p.Met857Ile)
|
rs199667661
|
0.00013
|
|
NM_001369.3(DNAH5):c.5438A>G (p.Glu1813Gly)
|
rs199910966
|
0.00013
|
|
NM_001369369.1(FOXN1):c.1618G>A (p.Asp540Asn)
|
rs181483148
|
0.00013
|
|
NM_001369369.1(FOXN1):c.497C>T (p.Ala166Val)
|
rs367793349
|
0.00013
|
|
NM_001371596.2(MFSD8):c.206C>T (p.Pro69Leu)
|
rs147750747
|
0.00013
|
|
NM_001372044.2(SHANK3):c.1398C>G (p.Pro466=)
|
rs371565755
|
0.00013
|
|
NM_001374828.1(ARID1B):c.901C>G (p.Pro301Ala)
|
rs1044746171
|
0.00013
|
|
NM_001376256.1(CRYM):c.8G>T (p.Arg3Leu)
|
rs149797560
|
0.00013
|
|
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe)
|
rs185504536
|
0.00013
|
|
NM_001378452.1(ITPR1):c.1450G>A (p.Val484Ile)
|
rs752031193
|
0.00013
|
|
NM_001378454.1(ALMS1):c.10651A>G (p.Asn3551Asp)
|
rs200992340
|
0.00013
|
|
NM_001378454.1(ALMS1):c.601C>G (p.Gln201Glu)
|
rs376989302
|
0.00013
|
|
NM_001378454.1(ALMS1):c.9880G>C (p.Asp3294His)
|
rs200441305
|
0.00013
|
|
NM_001379081.2(FREM1):c.3471+9C>T
|
rs377668876
|
0.00013
|
|
NM_001384140.1(PCDH15):c.1548G>A (p.Val516=)
|
rs138177808
|
0.00013
|
|
NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile)
|
rs146199636
|
0.00013
|
|
NM_001384474.1(LOXHD1):c.5584C>T (p.Arg1862Trp)
|
rs201994383
|
0.00013
|
|
NM_001386125.1(OBSCN):c.3185C>T (p.Ser1062Phe)
|
rs200058427
|
0.00013
|
|
NM_001457.4(FLNB):c.1748-5C>G
|
rs369919081
|
0.00013
|
|
NM_001457.4(FLNB):c.4873G>A (p.Ala1625Thr)
|
rs200727113
|
0.00013
|
|
NM_001457.4(FLNB):c.6028C>T (p.Arg2010Cys)
|
rs138034708
|
0.00013
|
|
NM_001457.4(FLNB):c.7641C>T (p.Ile2547=)
|
rs139582437
|
0.00013
|
|
NM_001458.5(FLNC):c.2297G>A (p.Arg766Gln)
|
rs369935650
|
0.00013
|
|
NM_001845.6(COL4A1):c.2570C>T (p.Ser857Leu)
|
rs145861489
|
0.00013
|
|
NM_001848.3(COL6A1):c.2820G>A (p.Leu940=)
|
rs111451684
|
0.00013
|
|
NM_001849.4(COL6A2):c.1489C>A (p.Pro497Thr)
|
rs75581470
|
0.00013
|
|
NM_001849.4(COL6A2):c.1836C>T (p.Gly612=)
|
rs141257132
|
0.00013
|
|
NM_001849.4(COL6A2):c.2244C>T (p.Cys748=)
|
rs201426778
|
0.00013
|
|
NM_001849.4(COL6A2):c.2580G>A (p.Ala860=)
|
rs146420786
|
0.00013
|
|
NM_001852.4(COL9A2):c.1049A>G (p.Asp350Gly)
|
rs765020486
|
0.00013
|
|
NM_001853.4(COL9A3):c.1663C>T (p.Arg555Trp)
|
rs201783992
|
0.00013
|
|
NM_001853.4(COL9A3):c.1735C>A (p.Pro579Thr)
|
rs758064613
|
0.00013
|
|
NM_001854.4(COL11A1):c.3492+3G>A
|
rs372941709
|
0.00013
|
|
NM_001875.5(CPS1):c.121G>T (p.Val41Phe)
|
rs148708735
|
0.00013
|
|
NM_001903.5(CTNNA1):c.795C>G (p.Asp265Glu)
|
rs148239804
|
0.00013
|
|
NM_001927.4(DES):c.1257C>T (p.Pro419=)
|
rs143154982
|
0.00013
|
|
NM_001943.5(DSG2):c.2744G>C (p.Arg915Thr)
|
rs375358300
|
0.00013
|
|
NM_001943.5(DSG2):c.45+9C>G
|
rs376573409
|
0.00013
|
|
NM_001943.5(DSG2):c.545A>G (p.Asn182Ser)
|
rs368512832
|
0.00013
|
|
NM_001966.4(EHHADH):c.1608G>A (p.Gly536=)
|
rs141355337
|
0.00013
|
|
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala)
|
rs147610681
|
0.00013
|
|
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala)
|
rs374922166
|
0.00013
|
|
NM_002109.6(HARS1):c.679T>G (p.Ser227Ala)
|
rs768076848
|
0.00013
|
|
NM_002204.4(ITGA3):c.2326G>T (p.Gly776Trp)
|
rs542802167
|
0.00013
|
|
NM_002230.4(JUP):c.545C>T (p.Ser182Leu)
|
rs145592971
|
0.00013
|
|
NM_002234.4(KCNA5):c.1329C>T (p.Ile443=)
|
rs147209278
|
0.00013
|
|
NM_002437.5(MPV17):c.61C>G (p.Leu21Val)
|
rs200504529
|
0.00013
|
|
NM_002439.5(MSH3):c.1177G>A (p.Val393Met)
|
rs761779919
|
0.00013
|
|
NM_002439.5(MSH3):c.1194C>T (p.Gly398=)
|
rs141118996
|
0.00013
|
|
NM_002439.5(MSH3):c.562C>T (p.Arg188Cys)
|
rs147289289
|
0.00013
|
|
NM_002471.4(MYH6):c.1252G>A (p.Val418Met)
|
rs147606900
|
0.00013
|
|
NM_002473.6(MYH9):c.928A>G (p.Ile310Val)
|
rs149789202
|
0.00013
|
|
NM_002485.5(NBN):c.1124+6G>T
|
rs375862750
|
0.00013
|
|
NM_002529.4(NTRK1):c.1661G>A (p.Arg554Gln)
|
rs764417252
|
0.00013
|
|
NM_002529.4(NTRK1):c.570C>G (p.Ser190Arg)
|
rs138608619
|
0.00013
|
|
NM_002691.4(POLD1):c.371T>C (p.Val124Ala)
|
rs199993010
|
0.00013
|
|
NM_002778.4(PSAP):c.557G>A (p.Arg186His)
|
rs138880818
|
0.00013
|
|
NM_002880.4(RAF1):c.94A>G (p.Ile32Val)
|
rs372738063
|
0.00013
|
|
NM_002907.4(RECQL):c.468T>G (p.Ile156Met)
|
rs777214281
|
0.00013
|
|
NM_002907.4(RECQL):c.86C>T (p.Thr29Met)
|
rs145067169
|
0.00013
|
|
NM_003036.4(SKI):c.640A>G (p.Ser214Gly)
|
rs139179843
|
0.00013
|
|
NM_003106.4(SOX2):c.54G>C (p.Ser18=)
|
rs757913217
|
0.00013
|
|
NM_003227.4(TFR2):c.1863C>T (p.Ala621=)
|
rs374489702
|
0.00013
|
|
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu)
|
rs146251034
|
0.00013
|
|
NM_003722.5(TP63):c.374A>C (p.Gln125Pro)
|
rs982556895
|
0.00013
|
|
NM_003737.4(DCHS1):c.1160G>A (p.Arg387His)
|
rs145132459
|
0.00013
|
|
NM_003742.4(ABCB11):c.2834G>A (p.Ser945Asn)
|
rs200857579
|
0.00013
|
|
NM_003922.4(HERC1):c.9682G>A (p.Ala3228Thr)
|
rs201312041
|
0.00013
|
|
NM_003924.4(PHOX2B):c.773C>A (p.Ala258Glu)
|
rs747626591
|
0.00013
|
|
NM_003982.4(SLC7A7):c.339A>C (p.Gly113=)
|
rs139270936
|
0.00013
|
|
NM_004006.3(DMD):c.357+5G>A
|
rs778431187
|
0.00013
|
|
NM_004006.3(DMD):c.7085C>A (p.Pro2362Gln)
|
rs141151675
|
0.00013
|
|
NM_004006.3(DMD):c.7658G>A (p.Arg2553Gln)
|
rs764127932
|
0.00013
|
|
NM_004006.3(DMD):c.7988C>G (p.Thr2663Arg)
|
rs144103124
|
0.00013
|
|
NM_004006.3(DMD):c.821A>G (p.Tyr274Cys)
|
rs745868830
|
0.00013
|
|
NM_004006.3(DMD):c.8255A>G (p.Tyr2752Cys)
|
rs373832446
|
0.00013
|
|
NM_004006.3(DMD):c.8706G>A (p.Arg2902=)
|
rs899851642
|
0.00013
|
|
NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly)
|
rs191412461
|
0.00013
|
|
NM_004230.4(S1PR2):c.826G>A (p.Val276Ile)
|
rs146537931
|
0.00013
|
|
NM_004239.4(TRIP11):c.2357A>C (p.Asp786Ala)
|
rs201394520
|
0.00013
|
|
NM_004260.4(RECQL4):c.1345A>C (p.Thr449Pro)
|
rs535692036
|
0.00013
|
|
NM_004273.5(CHST3):c.570C>T (p.Asp190=)
|
rs367857089
|
0.00013
|
|
NM_004304.5(ALK):c.3173-11C>T
|
rs79339096
|
0.00013
|
|
NM_004304.5(ALK):c.4795C>T (p.Pro1599Ser)
|
rs373037272
|
0.00013
|
|
NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser)
|
rs200911775
|
0.00013
|
|
NM_004369.4(COL6A3):c.5501-4C>G
|
rs143237699
|
0.00013
|
|
NM_004380.3(CREBBP):c.4280+8T>C
|
rs376814421
|
0.00013
|
|
NM_004380.3(CREBBP):c.5747T>C (p.Met1916Thr)
|
rs559294915
|
0.00013
|
|
NM_004408.4(DNM1):c.849+6C>T
|
rs527412689
|
0.00013
|
|
NM_004415.4(DSP):c.1575-15C>G
|
rs369184165
|
0.00013
|
|
NM_004415.4(DSP):c.2552T>A (p.Leu851Gln)
|
rs111368396
|
0.00013
|
|
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln)
|
rs139799237
|
0.00013
|
|
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His)
|
rs141508330
|
0.00013
|
|
NM_004560.4(ROR2):c.2117G>A (p.Arg706Gln)
|
rs369717474
|
0.00013
|
|
NM_004560.4(ROR2):c.986G>A (p.Ser329Asn)
|
rs371221714
|
0.00013
|
|
NM_004565.3(PEX14):c.1101C>T (p.Pro367=)
|
rs146053705
|
0.00013
|
|
NM_004655.4(AXIN2):c.1633G>T (p.Gly545Trp)
|
rs148951121
|
0.00013
|
|
NM_004655.4(AXIN2):c.1948C>T (p.Arg650Cys)
|
rs148419444
|
0.00013
|
|
NM_004656.4(BAP1):c.1735G>A (p.Gly579Arg)
|
rs370004702
|
0.00013
|
|
NM_004817.4(TJP2):c.3063C>T (p.Ala1021=)
|
rs367977493
|
0.00013
|
|
NM_004933.3(CDH15):c.107G>A (p.Arg36Gln)
|
rs367770505
|
0.00013
|
|
NM_005045.4(RELN):c.8634A>G (p.Ser2878=)
|
rs377429197
|
0.00013
|
|
NM_005188.4(CBL):c.-5A>G
|
rs552214111
|
0.00013
|
|
NM_005235.3(ERBB4):c.2079+5G>A
|
rs367976506
|
0.00013
|
|
NM_005236.3(ERCC4):c.973+11A>T
|
rs185779788
|
0.00013
|
|
NM_005431.2(XRCC2):c.620A>G (p.Glu207Gly)
|
rs61762969
|
0.00013
|
|
NM_005476.7(GNE):c.804G>A (p.Lys268=)
|
rs141814943
|
0.00013
|
|
NM_005477.3(HCN4):c.2025C>T (p.Ala675=)
|
rs149033101
|
0.00013
|
|
NM_005529.7(HSPG2):c.1372G>A (p.Glu458Lys)
|
rs531029732
|
0.00013
|
|
NM_005529.7(HSPG2):c.3857A>G (p.Gln1286Arg)
|
rs199788526
|
0.00013
|
|
NM_005633.4(SOS1):c.1668A>C (p.Val556=)
|
rs376314461
|
0.00013
|
|
NM_005633.4(SOS1):c.3600C>G (p.Asp1200Glu)
|
rs141594736
|
0.00013
|
|
NM_005633.4(SOS1):c.3946C>G (p.His1316Asp)
|
rs371024396
|
0.00013
|
|
NM_005751.5(AKAP9):c.2311G>A (p.Ala771Thr)
|
rs148267537
|
0.00013
|
|
NM_005765.3(ATP6AP2):c.217C>T (p.Arg73Trp)
|
rs749401561
|
0.00013
|
|
NM_005901.6(SMAD2):c.579G>A (p.Leu193=)
|
rs200480021
|
0.00013
|
|
NM_005902.4(SMAD3):c.777C>T (p.Gly259=)
|
rs145414319
|
0.00013
|
|
NM_005912.2(MC4R):c.110A>T (p.Asp37Val)
|
rs13447325
|
0.00013
|
|
NM_006031.6(PCNT):c.3220C>T (p.Arg1074Trp)
|
rs200174202
|
0.00013
|
|
NM_006073.4(TRDN):c.1627C>A (p.Gln543Lys)
|
rs9398723
|
0.00013
|
|
NM_006231.4(POLE):c.6531+5G>A
|
rs368538240
|
0.00013
|
|
NM_006245.4(PPP2R5D):c.1573C>T (p.Pro525Ser)
|
rs767996020
|
0.00013
|
|
NM_006348.5(COG5):c.1686+7A>G
|
rs373280339
|
0.00013
|
|
NM_006390.4(IPO8):c.3047G>T (p.Gly1016Val)
|
rs201904393
|
0.00013
|
|
NM_006514.4(SCN10A):c.2816C>T (p.Pro939Leu)
|
rs202174472
|
0.00013
|
|
NM_006514.4(SCN10A):c.3417G>C (p.Trp1139Cys)
|
rs143744796
|
0.00013
|
|
NM_006514.4(SCN10A):c.4709C>T (p.Thr1570Met)
|
rs772484960
|
0.00013
|
|
NM_006516.4(SLC2A1):c.764A>C (p.Lys255Thr)
|
rs5811
|
0.00013
|
|
NM_007078.3(LDB3):c.342C>T (p.Asn114=)
|
rs151166414
|
0.00013
|
|
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp)
|
rs199708878
|
0.00013
|
|
NM_007215.4(POLG2):c.1268C>A (p.Ser423Tyr)
|
rs181583071
|
0.00013
|
|
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=)
|
rs62625305
|
0.00013
|
|
NM_007294.4(BRCA1):c.2773A>C (p.Ile925Leu)
|
rs4986847
|
0.00013
|
|
NM_007294.4(BRCA1):c.3691T>C (p.Phe1231Leu)
|
rs41293451
|
0.00013
|
|
NM_007347.5(AP4E1):c.791A>G (p.Asn264Ser)
|
rs145541719
|
0.00013
|
|
NM_012144.4(DNAI1):c.1195G>A (p.Val399Met)
|
rs150261456
|
0.00013
|
|
NM_012414.4(RAB3GAP2):c.3143A>G (p.His1048Arg)
|
rs151244742
|
0.00013
|
|
NM_012463.4(ATP6V0A2):c.118-7_118-3del
|
rs777322469
|
0.00013
|
|
NM_012470.4(TNPO3):c.857G>A (p.Arg286His)
|
rs140709222
|
0.00013
|
|
NM_013382.7(POMT2):c.1920C>T (p.Gly640=)
|
rs150755807
|
0.00013
|
|
NM_014000.3(VCL):c.1403C>T (p.Thr468Met)
|
rs147957747
|
0.00013
|
|
NM_014141.6(CNTNAP2):c.1777+7G>A
|
rs770951811
|
0.00013
|
|
NM_014141.6(CNTNAP2):c.209-11C>T
|
rs369056998
|
0.00013
|
|
NM_014141.6(CNTNAP2):c.939+14C>T
|
rs370916766
|
0.00013
|
|
NM_014339.7(IL17RA):c.847-14C>G
|
rs201410617
|
0.00013
|
|
NM_014363.6(SACS):c.1219C>A (p.Leu407Ile)
|
rs201569239
|
0.00013
|
|
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val)
|
rs186436335
|
0.00013
|
|
NM_014714.4(IFT140):c.3147C>T (p.Asn1049=)
|
rs150129370
|
0.00013
|
|
NM_014908.4(DOLK):c.633C>T (p.Arg211=)
|
rs147647278
|
0.00013
|
|
NM_014915.3(ANKRD26):c.110A>G (p.Gln37Arg)
|
rs543170486
|
0.00013
|
|
NM_014967.5(FAN1):c.1090A>C (p.Asn364His)
|
rs187082481
|
0.00013
|
|
NM_015046.7(SETX):c.7490G>A (p.Ser2497Asn)
|
rs61735488
|
0.00013
|
|
NM_015102.5(NPHP4):c.3174C>T (p.Thr1058=)
|
rs374354239
|
0.00013
|
|
NM_015192.4(PLCB1):c.2088C>T (p.Tyr696=)
|
rs189186909
|
0.00013
|
|
NM_015192.4(PLCB1):c.724G>A (p.Val242Ile)
|
rs200567140
|
0.00013
|
|
NM_015215.4(CAMTA1):c.2568G>A (p.Ser856=)
|
rs374177752
|
0.00013
|
|
NM_015346.4(ZFYVE26):c.2742C>T (p.Ser914=)
|
rs140577908
|
0.00013
|
|
NM_015346.4(ZFYVE26):c.879G>A (p.Ser293=)
|
rs199794711
|
0.00013
|
|
NM_015378.4(VPS13D):c.8722A>T (p.Thr2908Ser)
|
rs184253678
|
0.00013
|
|
NM_015506.3(MMACHC):c.799C>T (p.Arg267Trp)
|
rs34258482
|
0.00013
|
|
NM_015512.5(DNAH1):c.3432C>T (p.Ser1144=)
|
rs534534857
|
0.00013
|
|
NM_015570.4(AUTS2):c.467G>A (p.Arg156His)
|
rs141278123
|
0.00013
|
|
NM_015662.3(IFT172):c.4795C>T (p.Arg1599Cys)
|
rs186020523
|
0.00013
|
|
NM_015702.3(MMADHC):c.-60G>A
|
rs886054923
|
0.00013
|
|
NM_016219.5(MAN1B1):c.1950C>T (p.Pro650=)
|
rs377461918
|
0.00013
|
|
NM_016239.4(MYO15A):c.10054G>A (p.Ala3352Thr)
|
rs367863299
|
0.00013
|
|
NM_016247.4(IMPG2):c.335-16_335-15del
|
rs756480190
|
0.00013
|
|
NM_016302.4(CRBN):c.654A>G (p.Gln218=)
|
rs373145132
|
0.00013
|
|
NM_017721.5(CC2D1A):c.60+10C>A
|
rs769120532
|
0.00013
|
|
NM_017721.5(CC2D1A):c.959C>A (p.Pro320Gln)
|
rs765282375
|
0.00013
|
|
NM_017777.4(MKS1):c.1128G>A (p.Thr376=)
|
rs369141016
|
0.00013
|
|
NM_017780.4(CHD7):c.240G>A (p.Met80Ile)
|
rs199675125
|
0.00013
|
|
NM_017780.4(CHD7):c.277A>G (p.Thr93Ala)
|
rs398124317
|
0.00013
|
|
NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His)
|
rs377535841
|
0.00013
|
|
NM_018100.4(EFHC1):c.1057C>T (p.Arg353Trp)
|
rs527295360
|
0.00013
|
|
NM_018249.6(CDK5RAP2):c.1892C>G (p.Ser631Cys)
|
rs376225756
|
0.00013
|
|
NM_018389.5(SLC35C1):c.747C>T (p.Leu249=)
|
rs567642788
|
0.00013
|
|
NM_018714.3(COG1):c.560+15C>T
|
rs201364732
|
0.00013
|
|
NM_018979.4(WNK1):c.3188C>T (p.Thr1063Ile)
|
rs201379287
|
0.00013
|
|
NM_019098.5(CNGB3):c.1833C>T (p.His611=)
|
rs368787128
|
0.00013
|
|
NM_020361.5(CPA6):c.1026C>G (p.Pro342=)
|
rs372964579
|
0.00013
|
|
NM_020533.3(MCOLN1):c.216G>A (p.Lys72=)
|
rs369176493
|
0.00013
|
|
NM_020699.4(GATAD2B):c.544C>T (p.Leu182=)
|
rs368676576
|
0.00013
|
|
NM_020778.5(ALPK3):c.4381G>C (p.Val1461Leu)
|
rs143835594
|
0.00013
|
|
NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys)
|
rs75602337
|
0.00013
|
|
NM_020987.5(ANK3):c.1789-10G>A
|
rs200791367
|
0.00013
|
|
NM_021098.3(CACNA1H):c.6440C>T (p.Pro2147Leu)
|
rs748980218
|
0.00013
|
|
NM_021830.5(TWNK):c.434C>T (p.Ala145Val)
|
rs143938897
|
0.00013
|
|
NM_021922.3(FANCE):c.274C>T (p.Arg92Trp)
|
rs375195621
|
0.00013
|
|
NM_021930.6(RINT1):c.767G>A (p.Arg256Gln)
|
rs199512216
|
0.00013
|
|
NM_021957.4(GYS2):c.1890+12A>G
|
rs192853475
|
0.00013
|
|
NM_022095.4(ZNF335):c.648G>A (p.Pro216=)
|
rs201180565
|
0.00013
|
|
NM_022114.4(PRDM16):c.1574G>A (p.Arg525Gln)
|
rs373011563
|
0.00013
|
|
NM_022124.6(CDH23):c.1803C>G (p.Val601=)
|
rs201024982
|
0.00013
|
|
NM_022367.4(SEMA4A):c.1694-13C>G
|
rs144540956
|
0.00013
|
|
NM_024408.4(NOTCH2):c.4929G>A (p.Thr1643=)
|
rs587697719
|
0.00013
|
|
NM_024422.6(DSC2):c.1788G>A (p.Ala596=)
|
rs146161960
|
0.00013
|
|
NM_024422.6(DSC2):c.2298G>C (p.Gln766His)
|
rs139558481
|
0.00013
|
|
NM_024422.6(DSC2):c.547C>T (p.Arg183Trp)
|
rs368082152
|
0.00013
|
|
NM_024537.4(CARS2):c.1448T>G (p.Leu483Trp)
|
rs766266851
|
0.00013
|
|
NM_024577.4(SH3TC2):c.3049G>A (p.Ala1017Thr)
|
rs186029710
|
0.00013
|
|
NM_024577.4(SH3TC2):c.31C>T (p.Arg11Trp)
|
rs149762843
|
0.00013
|
|
NM_024675.4(PALB2):c.232G>A (p.Val78Ile)
|
rs515726085
|
0.00013
|
|
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln)
|
rs146377793
|
0.00013
|
|
NM_024675.4(PALB2):c.48+7G>C
|
rs190626072
|
0.00013
|
|
NM_024757.5(EHMT1):c.2039C>T (p.Ser680Leu)
|
rs147523309
|
0.00013
|
|
NM_025009.5(CEP135):c.3320G>A (p.Arg1107Gln)
|
rs745603844
|
0.00013
|
|
NM_025074.7(FRAS1):c.10128C>T (p.His3376=)
|
rs369331788
|
0.00013
|
|
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)
|
rs200587974
|
0.00013
|
|
NM_025137.4(SPG11):c.2245-13A>G
|
rs200426807
|
0.00013
|
|
NM_025215.6(PUS1):c.1226C>T (p.Thr409Met)
|
rs761064906
|
0.00013
|
|
NM_031220.4(PITPNM3):c.2700C>T (p.Arg900=)
|
rs139901820
|
0.00013
|
|
NM_031892.3(SH3KBP1):c.1876A>T (p.Met626Leu)
|
rs199561036
|
0.00013
|
|
NM_032119.4(ADGRV1):c.14605C>T (p.Leu4869Phe)
|
rs371563402
|
0.00013
|
|
NM_032119.4(ADGRV1):c.5264C>T (p.Ala1755Val)
|
rs185971062
|
0.00013
|
|
NM_032119.4(ADGRV1):c.6229G>A (p.Glu2077Lys)
|
rs200372116
|
0.00013
|
|
NM_032322.4(RNF135):c.1009G>A (p.Asp337Asn)
|
rs148682566
|
0.00013
|
|
NM_032382.5(COG8):c.525G>A (p.Leu175=)
|
rs187905134
|
0.00013
|
|
NM_032581.4(HYCC1):c.1515A>G (p.Gln505=)
|
rs373948210
|
0.00013
|
|
NM_032634.4(PIGO):c.3070-12C>G
|
rs199864376
|
0.00013
|
|
NM_032861.4(SERAC1):c.391T>C (p.Cys131Arg)
|
rs147085187
|
0.00013
|
|
NM_033056.4(PCDH15):c.4677G>A (p.Lys1559=)
|
rs375077719
|
0.00013
|
|
NM_033056.4(PCDH15):c.4788T>G (p.Asp1596Glu)
|
rs200659780
|
0.00013
|
|
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu)
|
rs139668636
|
0.00013
|
|
NM_033159.4(HYAL1):c.168C>T (p.Phe56=)
|
rs369935445
|
0.00013
|
|
NM_033305.3(VPS13A):c.5047A>G (p.Thr1683Ala)
|
rs371138709
|
0.00013
|
|
NM_053025.4(MYLK):c.2629G>A (p.Val877Met)
|
rs34542174
|
0.00013
|
|
NM_054027.6(ANKH):c.1461G>A (p.Met487Ile)
|
rs777229764
|
0.00013
|
|
NM_057176.3(BSND):c.16A>G (p.Thr6Ala)
|
rs201342416
|
0.00013
|
|
NM_057176.3(BSND):c.806G>A (p.Arg269Gln)
|
rs199832638
|
0.00013
|
|
NM_080632.3(UPF3B):c.1118G>A (p.Arg373His)
|
rs146785878
|
0.00013
|
|
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser)
|
rs727504460
|
0.00013
|
|
NM_133259.4(LRPPRC):c.2965C>T (p.Arg989Cys)
|
rs199706677
|
0.00013
|
|
NM_133379.5(TTN):c.15768T>A (p.His5256Gln)
|
rs138826545
|
0.00013
|
|
NM_133459.4(CCBE1):c.843A>T (p.Pro281=)
|
rs191592668
|
0.00013
|
|
NM_138694.4(PKHD1):c.1201C>A (p.His401Asn)
|
rs192769565
|
0.00013
|
|
NM_144599.5(NIPA1):c.753G>C (p.Ala251=)
|
rs199718530
|
0.00013
|
|
NM_144670.6(A2ML1):c.2405G>A (p.Arg802His)
|
rs201562272
|
0.00013
|
|
NM_152328.5(ADSS1):c.542G>A (p.Arg181His)
|
rs755536909
|
0.00013
|
|
NM_152564.5(VPS13B):c.3017C>G (p.Ala1006Gly)
|
rs201566948
|
0.00013
|
|
NM_152564.5(VPS13B):c.365C>T (p.Pro122Leu)
|
rs201723380
|
0.00013
|
|
NM_152564.5(VPS13B):c.9035C>G (p.Thr3012Ser)
|
rs576577339
|
0.00013
|
|
NM_153240.5(NPHP3):c.3570+4A>G
|
rs374989123
|
0.00013
|
|
NM_170707.4(LMNA):c.1051A>C (p.Arg351=)
|
rs771623461
|
0.00013
|
|
NM_170707.4(LMNA):c.1488+14C>T
|
rs377700689
|
0.00013
|
|
NM_172107.4(KCNQ2):c.1814C>G (p.Thr605Ser)
|
rs751334184
|
0.00013
|
|
NM_173500.4(TTBK2):c.1015C>T (p.Leu339Phe)
|
rs371538715
|
0.00013
|
|
NM_173500.4(TTBK2):c.1100A>T (p.Lys367Ile)
|
rs764753481
|
0.00013
|
|
NM_173500.4(TTBK2):c.1247A>G (p.Asn416Ser)
|
rs200010694
|
0.00013
|
|
NM_174936.4(PCSK9):c.1495C>T (p.Arg499Cys)
|
rs201395805
|
0.00013
|
|
NM_177438.3(DICER1):c.4616C>T (p.Thr1539Met)
|
rs747901058
|
0.00013
|
|
NM_182961.4(SYNE1):c.20070G>C (p.Thr6690=)
|
rs141263831
|
0.00013
|
|
NM_182961.4(SYNE1):c.21612C>T (p.Pro7204=)
|
rs141170182
|
0.00013
|
|
NM_182961.4(SYNE1):c.21876A>G (p.Gly7292=)
|
rs375826346
|
0.00013
|
|
NM_182961.4(SYNE1):c.6908C>T (p.Thr2303Met)
|
rs190867604
|
0.00013
|
|
NM_183357.3(ADCY5):c.2845G>A (p.Val949Met)
|
rs151227955
|
0.00013
|
|
NM_183357.3(ADCY5):c.3684G>A (p.Leu1228=)
|
rs141058563
|
0.00013
|
|
NM_198525.3(KIF7):c.1922+13C>T
|
rs376321790
|
0.00013
|
|
NM_198576.4(AGRN):c.1384+6C>T
|
rs763495287
|
0.00013
|
|
NM_198586.3(NHLRC1):c.513C>T (p.Ala171=)
|
rs148907696
|
0.00013
|
|
NM_199242.3(UNC13D):c.2180G>A (p.Arg727Gln)
|
rs747390615
|
0.00013
|
|
NM_199242.3(UNC13D):c.2588G>A (p.Gly863Asp)
|
rs140184929
|
0.00013
|
|
NM_201384.3(PLEC):c.11207C>T (p.Pro3736Leu)
|
rs77146441
|
0.00013
|
|
NM_201384.3(PLEC):c.6096G>C (p.Ser2032=)
|
rs564245730
|
0.00013
|
|
NM_201384.3(PLEC):c.7082C>T (p.Thr2361Met)
|
rs369522291
|
0.00013
|
|
NM_201384.3(PLEC):c.7194C>T (p.Arg2398=)
|
rs541134948
|
0.00013
|
|
NM_201384.3(PLEC):c.897G>A (p.Thr299=)
|
rs377035835
|
0.00013
|
|
NM_201384.3(PLEC):c.9294C>T (p.Ala3098=)
|
rs376753842
|
0.00013
|
|
NM_201384.3(PLEC):c.9841G>A (p.Val3281Met)
|
rs202005454
|
0.00013
|
|
NM_203475.3(PORCN):c.288C>T (p.Gly96=)
|
rs200263603
|
0.00013
|
|
NM_206933.4(USH2A):c.4587A>C (p.Lys1529Asn)
|
rs756423843
|
0.00013
|
|
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg)
|
rs111033514
|
0.00013
|
|
NM_206933.4(USH2A):c.8016G>A (p.Leu2672=)
|
rs368327746
|
0.00013
|
|
NM_207361.6(FREM2):c.6743-9C>T
|
rs749834830
|
0.00013
|
|
NM_213599.3(ANO5):c.2256G>A (p.Thr752=)
|
rs144048656
|
0.00013
|
|
NM_000038.6(APC):c.1631T>C (p.Ile544Thr)
|
rs144056494
|
0.00012
|
|
NM_000038.6(APC):c.2204C>T (p.Ala735Val)
|
rs147655929
|
0.00012
|
|
NM_000038.6(APC):c.450A>G (p.Lys150=)
|
rs116020626
|
0.00012
|
|
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp)
|
rs200794097
|
0.00012
|
|
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu)
|
rs587780600
|
0.00012
|
|
NM_000038.6(APC):c.6873A>T (p.Gln2291His)
|
rs148878262
|
0.00012
|
|
NM_000051.4(ATM):c.3628A>G (p.Met1210Val)
|
rs138212452
|
0.00012
|
|
NM_000053.4(ATP7B):c.3402C>T (p.Pro1134=)
|
rs145887771
|
0.00012
|
|
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile)
|
rs80358479
|
0.00012
|
|
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=)
|
rs45525041
|
0.00012
|
|
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val)
|
rs55638633
|
0.00012
|
|
NM_000064.4(C3):c.2861G>A (p.Arg954His)
|
rs139864704
|
0.00012
|
|
NM_000067.3(CA2):c.35-7C>A
|
rs371766356
|
0.00012
|
|
NM_000069.3(CACNA1S):c.4916A>T (p.Glu1639Val)
|
rs146885451
|
0.00012
|
|
NM_000070.3(CAPN3):c.2106G>A (p.Ala702=)
|
rs144260889
|
0.00012
|
|
NM_000070.3(CAPN3):c.552G>A (p.Thr184=)
|
rs147808529
|
0.00012
|
|
NM_000081.4(LYST):c.8151T>C (p.Ile2717=)
|
rs201045270
|
0.00012
|
|
NM_000089.4(COL1A2):c.2566-6A>G
|
rs141088934
|
0.00012
|
|
NM_000092.5(COL4A4):c.2161C>T (p.Pro721Ser)
|
rs200759521
|
0.00012
|
|
NM_000108.5(DLD):c.549G>A (p.Thr183=)
|
rs150630885
|
0.00012
|
|
NM_000127.3(EXT1):c.124G>A (p.Gly42Ser)
|
rs368382074
|
0.00012
|
|
NM_000137.4(FAH):c.715A>T (p.Ile239Phe)
|
rs144228661
|
0.00012
|
|
NM_000137.4(FAH):c.864C>T (p.Cys288=)
|
rs370273424
|
0.00012
|
|
NM_000141.5(FGFR2):c.1774C>T (p.Arg592Cys)
|
rs141929882
|
0.00012
|
|
NM_000152.5(GAA):c.1860C>T (p.Ser620=)
|
rs370369972
|
0.00012
|
|
NM_000152.5(GAA):c.663C>T (p.Ile221=)
|
rs142878958
|
0.00012
|
|
NM_000154.2(GALK1):c.1044C>T (p.Phe348=)
|
rs372653001
|
0.00012
|
|
NM_000179.3(MSH6):c.1081C>T (p.Arg361Cys)
|
rs587782651
|
0.00012
|
|
NM_000179.3(MSH6):c.3203G>A (p.Arg1068Gln)
|
rs398123230
|
0.00012
|
|
NM_000199.5(SGSH):c.534C>T (p.His178=)
|
rs139484283
|
0.00012
|
|
NM_000214.3(JAG1):c.1706C>T (p.Thr569Met)
|
rs368438076
|
0.00012
|
|
NM_000215.4(JAK3):c.896T>C (p.Val299Ala)
|
rs571404212
|
0.00012
|
|
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys)
|
rs200761715
|
0.00012
|
|
NM_000245.4(MET):c.3798+5T>C
|
rs368150874
|
0.00012
|
|
NM_000246.4(CIITA):c.1908G>A (p.Thr636=)
|
rs200398959
|
0.00012
|
|
NM_000256.3(MYBPC3):c.531C>T (p.Arg177=)
|
rs368035400
|
0.00012
|
|
NM_000258.3(MYL3):c.4G>C (p.Ala2Pro)
|
rs148310342
|
0.00012
|
|
NM_000260.4(MYO7A):c.4441+7C>T
|
rs372493678
|
0.00012
|
|
NM_000264.5(PTCH1):c.2671G>A (p.Gly891Ser)
|
rs570091335
|
0.00012
|
|
NM_000264.5(PTCH1):c.3376G>A (p.Val1126Ile)
|
rs147025073
|
0.00012
|
|
NM_000294.3(PHKG2):c.1051G>A (p.Asp351Asn)
|
rs151033581
|
0.00012
|
|
NM_000297.4(PKD2):c.9C>T (p.Asn3=)
|
rs773343245
|
0.00012
|
|
NM_000302.4(PLOD1):c.1182G>C (p.Arg394=)
|
rs144439284
|
0.00012
|
|
NM_000316.3(PTH1R):c.1155C>T (p.Leu385=)
|
rs201360775
|
0.00012
|
|
NM_000335.5(SCN5A):c.4908C>T (p.Ile1636=)
|
rs200569112
|
0.00012
|
|
NM_000341.4(SLC3A1):c.417C>T (p.Asn139=)
|
rs150870922
|
0.00012
|
|
NM_000350.3(ABCA4):c.5076C>T (p.Phe1692=)
|
rs148351929
|
0.00012
|
|
NM_000359.3(TGM1):c.885C>T (p.His295=)
|
rs186352813
|
0.00012
|
|
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu)
|
rs118203481
|
0.00012
|
|
NM_000384.3(APOB):c.11542G>A (p.Ala3848Thr)
|
rs61743512
|
0.00012
|
|
NM_000384.3(APOB):c.11569G>A (p.Val3857Met)
|
rs145655926
|
0.00012
|
|
NM_000384.3(APOB):c.2258G>A (p.Gly753Glu)
|
rs148502464
|
0.00012
|
|
NM_000384.3(APOB):c.288G>T (p.Gln96His)
|
rs186544754
|
0.00012
|
|
NM_000388.4(CASR):c.2777A>G (p.Gln926Arg)
|
rs200263975
|
0.00012
|
|
NM_000392.5(ABCC2):c.3081C>T (p.Tyr1027=)
|
rs201212360
|
0.00012
|
|
NM_000426.4(LAMA2):c.4993G>A (p.Gly1665Arg)
|
rs373997222
|
0.00012
|
|
NM_000429.3(MAT1A):c.981G>A (p.Pro327=)
|
rs149163315
|
0.00012
|
|
NM_000435.3(NOTCH3):c.203C>T (p.Pro68Leu)
|
rs146810942
|
0.00012
|
|
NM_000444.6(PHEX):c.185C>T (p.Ala62Val)
|
rs145393882
|
0.00012
|
|
NM_000465.4(BARD1):c.1152C>T (p.Ser384=)
|
rs368291318
|
0.00012
|
|
NM_000481.4(AMT):c.961G>A (p.Val321Met)
|
rs149457059
|
0.00012
|
|
NM_000492.4(CFTR):c.4092G>A (p.Ala1364=)
|
rs148878126
|
0.00012
|
|
NM_000501.4(ELN):c.35G>T (p.Gly12Val)
|
rs367634266
|
0.00012
|
|
NM_000501.4(ELN):c.710G>C (p.Gly237Ala)
|
rs934014841
|
0.00012
|
|
NM_000517.6(HBA2):c.409C>A (p.Leu137Met)
|
rs41364652
|
0.00012
|
|
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser)
|
rs368838866
|
0.00012
|
|
NM_000535.7(PMS2):c.1279C>T (p.Arg427Cys)
|
rs376042544
|
0.00012
|
|
NM_000535.7(PMS2):c.2445G>A (p.Ser815=)
|
rs753199796
|
0.00012
|
|
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys)
|
rs372297364
|
0.00012
|
|
NM_000536.4(RAG2):c.909G>T (p.Glu303Asp)
|
rs141025671
|
0.00012
|
|
NM_000548.5(TSC2):c.3919G>A (p.Glu1307Lys)
|
rs62642481
|
0.00012
|
|
NM_000548.5(TSC2):c.4094C>T (p.Ser1365Leu)
|
rs377123510
|
0.00012
|
|
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln)
|
rs181649030
|
0.00012
|
|
NM_000883.4(IMPDH1):c.377T>C (p.Phe126Ser)
|
rs367549284
|
0.00012
|
|
NM_001005242.3(PKP2):c.1379-2005A>G
|
rs397516995
|
0.00012
|
|
NM_001005242.3(PKP2):c.1540G>A (p.Val514Ile)
|
rs376102257
|
0.00012
|
|
NM_001009944.3(PKD1):c.10315C>T (p.Arg3439Trp)
|
rs374486955
|
0.00012
|
|
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val)
|
rs528213425
|
0.00012
|
|
NM_001009944.3(PKD1):c.8914G>A (p.Asp2972Asn)
|
rs150189496
|
0.00012
|
|
NM_001009944.3(PKD1):c.9898G>A (p.Gly3300Arg)
|
rs777024498
|
0.00012
|
|
NM_001017995.3(SH3PXD2B):c.1542C>T (p.Pro514=)
|
rs780292269
|
0.00012
|
|
NM_001034853.2(RPGR):c.1708A>G (p.Thr570Ala)
|
rs768169831
|
0.00012
|
|
NM_001036.6(RYR3):c.923G>A (p.Arg308Gln)
|
rs201830013
|
0.00012
|
|
NM_001042492.3(NF1):c.2191C>T (p.Leu731Phe)
|
rs185204667
|
0.00012
|
|
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=)
|
rs140994965
|
0.00012
|
|
NM_001077350.3(NPRL3):c.997G>A (p.Val333Ile)
|
rs367664536
|
0.00012
|
|
NM_001077365.2(POMT1):c.568C>T (p.Leu190=)
|
rs752931210
|
0.00012
|
|
NM_001080467.3(MYO5B):c.2590G>A (p.Ala864Thr)
|
rs372432070
|
0.00012
|
|
NM_001080476.3(GRXCR1):c.825G>A (p.Thr275=)
|
rs370629848
|
0.00012
|
|
NM_001099922.3(ALG13):c.2606C>T (p.Ala869Val)
|
rs138712375
|
0.00012
|
|
NM_001103.4(ACTN2):c.1748A>G (p.Glu583Gly)
|
rs200631005
|
0.00012
|
|
NM_001105206.3(LAMA4):c.5270C>T (p.Pro1757Leu)
|
rs200177134
|
0.00012
|
|
NM_001109878.2(TBX22):c.780G>A (p.Thr260=)
|
rs373817537
|
0.00012
|
|
NM_001113525.2(ZNF276):c.*1313A>G
|
rs368376237
|
0.00012
|
|
NM_001122769.3(LCA5):c.1260G>A (p.Lys420=)
|
rs141642284
|
0.00012
|
|
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=)
|
rs201236364
|
0.00012
|
|
NM_001128178.3(NPHP1):c.1787C>T (p.Thr596Met)
|
rs201460699
|
0.00012
|
|
NM_001128840.3(CACNA1D):c.1637A>G (p.Asn546Ser)
|
rs55797424
|
0.00012
|
|
NM_001128840.3(CACNA1D):c.5417A>G (p.Tyr1806Cys)
|
rs369626956
|
0.00012
|
|
NM_001130987.2(DYSF):c.1481G>A (p.Arg494His)
|
rs199879861
|
0.00012
|
|
NM_001130987.2(DYSF):c.2593C>T (p.Arg865Trp)
|
rs200487610
|
0.00012
|
|
NM_001130987.2(DYSF):c.5094C>T (p.Ile1698=)
|
rs149087116
|
0.00012
|
|
NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr)
|
rs112226602
|
0.00012
|
|
NM_001145026.2(PTPRQ):c.1651A>G (p.Ile551Val)
|
rs183202655
|
0.00012
|
|
NM_001145809.2(MYH14):c.3819C>T (p.Ala1273=)
|
rs750779364
|
0.00012
|
|
NM_001145809.2(MYH14):c.4445G>A (p.Arg1482Gln)
|
rs746594902
|
0.00012
|
|
NM_001145809.2(MYH14):c.5876G>A (p.Arg1959Gln)
|
rs200878464
|
0.00012
|
|
NM_001148.6(ANK2):c.9853A>C (p.Ile3285Leu)
|
rs144603824
|
0.00012
|
|
NM_001161352.2(KCNMA1):c.711C>T (p.Asn237=)
|
rs139309224
|
0.00012
|
|
NM_001164496.2(CFAP44):c.652del (p.Arg218fs)
|
rs772295550
|
0.00012
|
|
NM_001164508.2(NEB):c.10609G>A (p.Ala3537Thr)
|
rs556492694
|
0.00012
|
|
NM_001164508.2(NEB):c.15715C>T (p.Arg5239Cys)
|
rs1346076883
|
0.00012
|
|
NM_001164508.2(NEB):c.16984G>A (p.Ala5662Thr)
|
rs375294508
|
0.00012
|
|
NM_001164508.2(NEB):c.18398A>G (p.Lys6133Arg)
|
rs199594449
|
0.00012
|
|
NM_001164508.2(NEB):c.18800T>C (p.Leu6267Pro)
|
rs184723737
|
0.00012
|
|
NM_001164508.2(NEB):c.21406A>T (p.Met7136Leu)
|
rs886038447
|
0.00012
|
|
NM_001164508.2(NEB):c.2823G>A (p.Ala941=)
|
rs376849181
|
0.00012
|
|
NM_001164508.2(NEB):c.293C>T (p.Pro98Leu)
|
rs201473194
|
0.00012
|
|
NM_001164508.2(NEB):c.6624G>A (p.Pro2208=)
|
rs373278622
|
0.00012
|
|
NM_001164508.2(NEB):c.7896A>G (p.Thr2632=)
|
rs377015178
|
0.00012
|
|
NM_001184880.2(PCDH19):c.1330A>G (p.Thr444Ala)
|
rs201671718
|
0.00012
|
|
NM_001197104.2(KMT2A):c.3722G>C (p.Ser1241Thr)
|
rs142658261
|
0.00012
|
|
NM_001199107.2(TBC1D24):c.1026G>A (p.Ser342=)
|
rs370244846
|
0.00012
|
|
NM_001199397.3(NEK1):c.859C>G (p.Pro287Ala)
|
rs35222922
|
0.00012
|
|
NM_001206999.2(CIT):c.4677C>T (p.Ala1559=)
|
rs372311430
|
0.00012
|
|
NM_001267550.2(TTN):c.102156G>T (p.Arg34052=)
|
rs376894729
|
0.00012
|
|
NM_001267550.2(TTN):c.12404A>G (p.Asn4135Ser)
|
rs565638291
|
0.00012
|
|
NM_001267550.2(TTN):c.12653T>C (p.Ile4218Thr)
|
rs374631591
|
0.00012
|
|
NM_001267550.2(TTN):c.1399-3C>T
|
rs397517486
|
0.00012
|
|
NM_001267550.2(TTN):c.14746A>G (p.Lys4916Glu)
|
rs376597173
|
0.00012
|
|
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser)
|
rs560537668
|
0.00012
|
|
NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg)
|
rs374882815
|
0.00012
|
|
NM_001267550.2(TTN):c.1943G>C (p.Arg648Thr)
|
rs550441902
|
0.00012
|
|
NM_001267550.2(TTN):c.19881G>A (p.Ser6627=)
|
rs371495674
|
0.00012
|
|
NM_001267550.2(TTN):c.204C>T (p.Pro68=)
|
rs201089861
|
0.00012
|
|
NM_001267550.2(TTN):c.23926G>A (p.Val7976Ile)
|
rs200395305
|
0.00012
|
|
NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser)
|
rs375209098
|
0.00012
|
|
NM_001267550.2(TTN):c.30811A>G (p.Ile10271Val)
|
rs182720979
|
0.00012
|
|
NM_001267550.2(TTN):c.33796C>T (p.Pro11266Ser)
|
rs201120871
|
0.00012
|
|
NM_001267550.2(TTN):c.39430G>A (p.Val13144Ile)
|
rs374394719
|
0.00012
|
|
NM_001267550.2(TTN):c.40973A>G (p.Lys13658Arg)
|
rs184713215
|
0.00012
|
|
NM_001267550.2(TTN):c.4160T>C (p.Leu1387Pro)
|
rs115303497
|
0.00012
|
|
NM_001267550.2(TTN):c.43244G>A (p.Ser14415Asn)
|
rs370342831
|
0.00012
|
|
NM_001267550.2(TTN):c.48394C>T (p.Arg16132Cys)
|
rs2303830
|
0.00012
|
|
NM_001267550.2(TTN):c.48683G>A (p.Arg16228His)
|
rs368806005
|
0.00012
|
|
NM_001267550.2(TTN):c.51887G>A (p.Arg17296His)
|
rs200456782
|
0.00012
|
|
NM_001267550.2(TTN):c.5198C>T (p.Thr1733Met)
|
rs367700246
|
0.00012
|
|
NM_001267550.2(TTN):c.54321A>G (p.Ala18107=)
|
rs368021072
|
0.00012
|
|
NM_001267550.2(TTN):c.55378A>G (p.Thr18460Ala)
|
rs727503600
|
0.00012
|
|
NM_001267550.2(TTN):c.55655G>A (p.Arg18552His)
|
rs201774108
|
0.00012
|
|
NM_001267550.2(TTN):c.56850G>A (p.Val18950=)
|
rs368068200
|
0.00012
|
|
NM_001267550.2(TTN):c.57242T>C (p.Ile19081Thr)
|
rs78509062
|
0.00012
|
|
NM_001267550.2(TTN):c.59236G>A (p.Gly19746Ser)
|
rs372802352
|
0.00012
|
|
NM_001267550.2(TTN):c.59402G>A (p.Gly19801Asp)
|
rs202206216
|
0.00012
|
|
NM_001267550.2(TTN):c.63775G>A (p.Val21259Ile)
|
rs371286595
|
0.00012
|
|
NM_001267550.2(TTN):c.66917T>C (p.Ile22306Thr)
|
rs397517667
|
0.00012
|
|
NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn)
|
rs375676529
|
0.00012
|
|
NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln)
|
rs370890454
|
0.00012
|
|
NM_001267550.2(TTN):c.71300G>A (p.Arg23767Gln)
|
rs370516890
|
0.00012
|
|
NM_001267550.2(TTN):c.71373T>G (p.Leu23791=)
|
rs56245285
|
0.00012
|
|
NM_001267550.2(TTN):c.73303C>T (p.Arg24435Cys)
|
rs200028088
|
0.00012
|
|
NM_001267550.2(TTN):c.77052C>T (p.Gly25684=)
|
rs372543652
|
0.00012
|
|
NM_001267550.2(TTN):c.80160T>G (p.Ile26720Met)
|
rs376363284
|
0.00012
|
|
NM_001267550.2(TTN):c.81464T>C (p.Ile27155Thr)
|
rs397517720
|
0.00012
|
|
NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser)
|
rs368443217
|
0.00012
|
|
NM_001267550.2(TTN):c.82688G>A (p.Arg27563His)
|
rs118079537
|
0.00012
|
|
NM_001267550.2(TTN):c.85275T>C (p.Thr28425=)
|
rs376484117
|
0.00012
|
|
NM_001267550.2(TTN):c.90227C>T (p.Thr30076Met)
|
rs201998913
|
0.00012
|
|
NM_001267550.2(TTN):c.90691C>T (p.Pro30231Ser)
|
rs373722546
|
0.00012
|
|
NM_001267550.2(TTN):c.91399C>T (p.Arg30467Cys)
|
rs775591945
|
0.00012
|
|
NM_001267550.2(TTN):c.92402C>T (p.Ala30801Val)
|
rs372570504
|
0.00012
|
|
NM_001283009.2(RTEL1):c.3407C>G (p.Thr1136Ser)
|
rs150686112
|
0.00012
|
|
NM_001291303.3(FAT4):c.13193T>C (p.Ile4398Thr)
|
rs200729108
|
0.00012
|
|
NM_001291867.2(NHS):c.1143C>T (p.Cys381=)
|
rs727504042
|
0.00012
|
|
NM_001292034.3(TAB2):c.156A>G (p.Arg52=)
|
rs143213478
|
0.00012
|
|
NM_001317778.2(SFTPC):c.445G>C (p.Ala149Pro)
|
rs202145169
|
0.00012
|
|
NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr)
|
rs144878564
|
0.00012
|
|
NM_001323289.2(CDKL5):c.2555C>T (p.Pro852Leu)
|
rs587783156
|
0.00012
|
|
NM_001349253.2(SCN11A):c.4282G>A (p.Gly1428Ser)
|
rs201336927
|
0.00012
|
|
NM_001349253.2(SCN11A):c.712C>T (p.Arg238Cys)
|
rs146942592
|
0.00012
|
|
NM_001349338.3(FOXP1):c.13T>C (p.Ser5Pro)
|
rs762898505
|
0.00012
|
|
NM_001351132.2(PEX5):c.753+10T>C
|
rs373242881
|
0.00012
|
|
NM_001352514.2(HLCS):c.2345A>G (p.Tyr782Cys)
|
rs200453837
|
0.00012
|
|
NM_001358530.2(MOCS1):c.1413C>T (p.Ala471=)
|
rs745789021
|
0.00012
|
|
NM_001360.3(DHCR7):c.1410G>A (p.Leu470=)
|
rs375993195
|
0.00012
|
|
NM_001363711.2(DUOX2):c.1268C>T (p.Thr423Ile)
|
rs201197899
|
0.00012
|
|
NM_001367624.2(ZNF469):c.10132G>C (p.Gly3378Arg)
|
rs192272765
|
0.00012
|
|
NM_001367624.2(ZNF469):c.3565C>A (p.Pro1189Thr)
|
rs766878740
|
0.00012
|
|
NM_001367624.2(ZNF469):c.5266G>A (p.Ala1756Thr)
|
rs371328036
|
0.00012
|
|
NM_001369.3(DNAH5):c.7943C>T (p.Ala2648Val)
|
rs201939338
|
0.00012
|
|
NM_001369268.1(ACAN):c.1975C>G (p.Gln659Glu)
|
rs181923062
|
0.00012
|
|
NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu)
|
rs750112288
|
0.00012
|
|
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser)
|
rs745404679
|
0.00012
|
|
NM_001374736.1(DST):c.3853A>G (p.Asn1285Asp)
|
rs201419873
|
0.00012
|
|
NM_001375808.2(LPIN2):c.2535A>C (p.Gly845=)
|
rs186864136
|
0.00012
|
|
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=)
|
rs141133453
|
0.00012
|
|
NM_001377.3(DYNC2H1):c.5177G>A (p.Arg1726Gln)
|
rs564701277
|
0.00012
|
|
NM_001377.3(DYNC2H1):c.9231+12G>A
|
rs369045696
|
0.00012
|
|
NM_001378120.1(MBD5):c.763C>T (p.Pro255Ser)
|
rs183855575
|
0.00012
|
|
NM_001378454.1(ALMS1):c.2665A>G (p.Ile889Val)
|
rs377282102
|
0.00012
|
|
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala)
|
rs199649563
|
0.00012
|
|
NM_001378964.1(CDON):c.791C>A (p.Pro264Gln)
|
rs140542787
|
0.00012
|
|
NM_001379500.1(COL18A1):c.1248G>A (p.Pro416=)
|
rs185296216
|
0.00012
|
|
NM_001384732.1(CPLANE1):c.336C>T (p.Val112=)
|
rs571875820
|
0.00012
|
|
NM_001384732.1(CPLANE1):c.8958A>G (p.Pro2986=)
|
rs138495618
|
0.00012
|
|
NM_001429.4(EP300):c.2787A>G (p.Ala929=)
|
rs143690368
|
0.00012
|
|
NM_001457.4(FLNB):c.1640C>T (p.Ala547Val)
|
rs200619215
|
0.00012
|
|
NM_001457.4(FLNB):c.3032A>C (p.Glu1011Ala)
|
rs754708052
|
0.00012
|
|
NM_001458.5(FLNC):c.1568T>C (p.Val523Ala)
|
rs182845462
|
0.00012
|
|
NM_001458.5(FLNC):c.6689G>A (p.Arg2230His)
|
rs376035195
|
0.00012
|
|
NM_001481.3(GAS8):c.222G>T (p.Lys74Asn)
|
rs141234041
|
0.00012
|
|
NM_001492.6(GDF1):c.925T>C (p.Ser309Pro)
|
rs864622513
|
0.00012
|
|
NM_001692.4(ATP6V1B1):c.926A>G (p.Glu309Gly)
|
rs201556073
|
0.00012
|
|
NM_001737.5(C9):c.1345G>A (p.Val449Met)
|
rs374259433
|
0.00012
|
|
NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr)
|
rs201817670
|
0.00012
|
|
NM_001852.4(COL9A2):c.217C>T (p.Pro73Ser)
|
rs375150574
|
0.00012
|
|
NM_001853.4(COL9A3):c.1932C>T (p.Pro644=)
|
rs550889206
|
0.00012
|
|
NM_001903.5(CTNNA1):c.1899+4A>G
|
rs371589105
|
0.00012
|
|
NM_001999.4(FBN2):c.2625T>C (p.Cys875=)
|
rs371502563
|
0.00012
|
|
NM_001999.4(FBN2):c.2990-14C>T
|
rs377500777
|
0.00012
|
|
NM_002185.5(IL7R):c.314G>A (p.Ser105Asn)
|
rs150051812
|
0.00012
|
|
NM_002185.5(IL7R):c.760G>A (p.Ala254Thr)
|
rs137868226
|
0.00012
|
|
NM_002234.4(KCNA5):c.797C>T (p.Thr266Ile)
|
rs369750762
|
0.00012
|
|
NM_002291.3(LAMB1):c.4746-3C>A
|
rs200654865
|
0.00012
|
|
NM_002292.4(LAMB2):c.1206G>A (p.Arg402=)
|
rs201999373
|
0.00012
|
|
NM_002292.4(LAMB2):c.5286T>C (p.Asn1762=)
|
rs781092208
|
0.00012
|
|
NM_002439.5(MSH3):c.3181A>G (p.Arg1061Gly)
|
rs746782115
|
0.00012
|
|
NM_002471.4(MYH6):c.115G>A (p.Val39Met)
|
rs142850511
|
0.00012
|
|
NM_002693.3(POLG):c.1389G>A (p.Leu463=)
|
rs150828914
|
0.00012
|
|
NM_002769.5(PRSS1):c.390C>T (p.Thr130=)
|
rs561097415
|
0.00012
|
|
NM_002775.5(HTRA1):c.176G>C (p.Arg59Pro)
|
rs1246114252
|
0.00012
|
|
NM_002872.5(RAC2):c.545C>T (p.Thr182Met)
|
rs141308774
|
0.00012
|
|
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys)
|
rs370242565
|
0.00012
|
|
NM_002979.5(SCP2):c.1469-10T>C
|
rs761545816
|
0.00012
|
|
NM_003000.3(SDHB):c.403G>A (p.Val135Met)
|
rs201585157
|
0.00012
|
|
NM_003072.5(SMARCA4):c.403C>G (p.Pro135Ala)
|
rs150949949
|
0.00012
|
|
NM_003072.5(SMARCA4):c.914C>T (p.Pro305Leu)
|
rs138097741
|
0.00012
|
|
NM_003179.3(SYP):c.5T>A (p.Leu2Gln)
|
rs200470034
|
0.00012
|
|
NM_003240.5(LEFTY2):c.738-9C>T
|
rs576554454
|
0.00012
|
|
NM_003482.4(KMT2D):c.6409A>G (p.Thr2137Ala)
|
rs543241831
|
0.00012
|
|
NM_003482.4(KMT2D):c.6998C>T (p.Pro2333Leu)
|
rs377504041
|
0.00012
|
|
NM_003482.4(KMT2D):c.8339C>T (p.Thr2780Met)
|
rs770978212
|
0.00012
|
|
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val)
|
rs200912109
|
0.00012
|
|
NM_003742.4(ABCB11):c.2757C>A (p.Thr919=)
|
rs374465656
|
0.00012
|
|
NM_003742.4(ABCB11):c.48G>A (p.Glu16=)
|
rs768192083
|
0.00012
|
|
NM_003977.4(AIP):c.733G>A (p.Glu245Lys)
|
rs150645662
|
0.00012
|
|
NM_003978.5(PSTPIP1):c.1054G>A (p.Glu352Lys)
|
rs201186216
|
0.00012
|
|
NM_004004.6(GJB2):c.120A>C (p.Ala40=)
|
rs561870637
|
0.00012
|
|
NM_004006.3(DMD):c.10643C>T (p.Thr3548Ile)
|
rs139492098
|
0.00012
|
|
NM_004006.3(DMD):c.7820A>T (p.Lys2607Met)
|
rs72466581
|
0.00012
|
|
NM_004006.3(DMD):c.9479G>A (p.Arg3160His)
|
rs771392678
|
0.00012
|
|
NM_004055.5(CAPN5):c.297+11G>A
|
rs374146255
|
0.00012
|
|
NM_004100.5(EYA4):c.1739-64G>A
|
rs143208937
|
0.00012
|
|
NM_004172.5(SLC1A3):c.796G>A (p.Ala266Thr)
|
rs146929198
|
0.00012
|
|
NM_004183.4(BEST1):c.992G>A (p.Arg331Gln)
|
rs201386186
|
0.00012
|
|
NM_004304.5(ALK):c.692C>G (p.Thr231Arg)
|
rs142120301
|
0.00012
|
|
NM_004360.5(CDH1):c.1143G>C (p.Lys381Asn)
|
rs143727462
|
0.00012
|
|
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile)
|
rs370864592
|
0.00012
|
|
NM_004369.4(COL6A3):c.3063A>G (p.Pro1021=)
|
rs200098134
|
0.00012
|
|
NM_004369.4(COL6A3):c.5589C>T (p.Asp1863=)
|
rs144592806
|
0.00012
|
|
NM_004380.3(CREBBP):c.2526G>A (p.Gln842=)
|
rs141775567
|
0.00012
|
|
NM_004415.4(DSP):c.2037A>G (p.Ile679Met)
|
rs151049942
|
0.00012
|
|
NM_004415.4(DSP):c.7125G>A (p.Gly2375=)
|
rs141709096
|
0.00012
|
|
NM_004525.3(LRP2):c.12756C>T (p.Asp4252=)
|
rs201793817
|
0.00012
|
|
NM_004560.4(ROR2):c.2286G>A (p.Ser762=)
|
rs143759440
|
0.00012
|
|
NM_004612.4(TGFBR1):c.470G>C (p.Arg157Pro)
|
rs147146713
|
0.00012
|
|
NM_004656.4(BAP1):c.1408G>A (p.Gly470Arg)
|
rs576538858
|
0.00012
|
|
NM_004817.4(TJP2):c.1656A>G (p.Gly552=)
|
rs150723764
|
0.00012
|
|
NM_004984.4(KIF5A):c.1264C>T (p.Arg422Cys)
|
rs748402153
|
0.00012
|
|
NM_005002.5(NDUFA9):c.58A>G (p.Ile20Val)
|
rs148447690
|
0.00012
|
|
NM_005120.3(MED12):c.4488C>T (p.Arg1496=)
|
rs531754497
|
0.00012
|
|
NM_005188.4(CBL):c.2060C>T (p.Pro687Leu)
|
rs146705974
|
0.00012
|
|
NM_005198.5(CHKB):c.501T>G (p.Ile167Met)
|
rs199704510
|
0.00012
|
|
NM_005422.4(TECTA):c.2725C>T (p.Arg909Cys)
|
rs139132568
|
0.00012
|
|
NM_005431.2(XRCC2):c.354G>A (p.Val118=)
|
rs558977371
|
0.00012
|
|
NM_005477.3(HCN4):c.2701G>A (p.Ala901Thr)
|
rs201742383
|
0.00012
|
|
NM_005477.3(HCN4):c.621C>G (p.Arg207=)
|
rs727503958
|
0.00012
|
|
NM_005529.7(HSPG2):c.11481C>T (p.Gly3827=)
|
rs150600286
|
0.00012
|
|
NM_005529.7(HSPG2):c.12884G>A (p.Arg4295Gln)
|
rs537908254
|
0.00012
|
|
NM_005529.7(HSPG2):c.5191C>T (p.Leu1731Phe)
|
rs201491948
|
0.00012
|
|
NM_005876.5(SPEG):c.7262C>T (p.Pro2421Leu)
|
rs376076241
|
0.00012
|
|
NM_006005.3(WFS1):c.728C>T (p.Ala243Val)
|
rs147147660
|
0.00012
|
|
NM_006015.6(ARID1A):c.1175C>A (p.Pro392His)
|
rs199906671
|
0.00012
|
|
NM_006059.4(LAMC3):c.944G>A (p.Arg315Gln)
|
rs45444592
|
0.00012
|
|
NM_006206.6(PDGFRA):c.1631T>C (p.Val544Ala)
|
rs181854060
|
0.00012
|
|
NM_006231.4(POLE):c.4370G>T (p.Gly1457Val)
|
rs776534749
|
0.00012
|
|
NM_006231.4(POLE):c.5812-11_5812-10del
|
rs745976640
|
0.00012
|
|
NM_006231.4(POLE):c.6674G>A (p.Arg2225His)
|
rs538875477
|
0.00012
|
|
NM_006302.3(MOGS):c.249C>G (p.Ala83=)
|
rs764778419
|
0.00012
|
|
NM_006383.4(CIB2):c.192G>A (p.Glu64=)
|
rs145415848
|
0.00012
|
|
NM_006516.4(SLC2A1):c.18G>A (p.Lys6=)
|
rs577329624
|
0.00012
|
|
NM_006623.4(PHGDH):c.390C>T (p.Asp130=)
|
rs148078511
|
0.00012
|
|
NM_006623.4(PHGDH):c.644-12G>A
|
rs370255821
|
0.00012
|
|
NM_006744.4(RBP4):c.559G>A (p.Val187Ile)
|
rs779604024
|
0.00012
|
|
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly)
|
rs144731446
|
0.00012
|
|
NM_006912.6(RIT1):c.38G>A (p.Ser13Asn)
|
rs145034964
|
0.00012
|
|
NM_006946.4(SPTBN2):c.406A>G (p.Met136Val)
|
rs150610657
|
0.00012
|
|
NM_006949.4(STXBP2):c.1393C>T (p.Arg465Cys)
|
rs542557411
|
0.00012
|
|
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln)
|
rs368570187
|
0.00012
|
|
NM_007294.4(BRCA1):c.1233T>G (p.Asp411Glu)
|
rs80357024
|
0.00012
|
|
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala)
|
rs80357467
|
0.00012
|
|
NM_012144.4(DNAI1):c.1001C>T (p.Ser334Phe)
|
rs1451350869
|
0.00012
|
|
NM_012144.4(DNAI1):c.1929C>A (p.Ile643=)
|
rs146434058
|
0.00012
|
|
NM_012233.3(RAB3GAP1):c.-4C>T
|
rs202050016
|
0.00012
|
|
NM_013336.4(SEC61A1):c.76-4C>G
|
rs189545025
|
0.00012
|
|
NM_013435.3(RAX):c.612G>A (p.Leu204=)
|
rs753579122
|
0.00012
|
|
NM_014000.3(VCL):c.2796T>C (p.Asp932=)
|
rs140308982
|
0.00012
|
|
NM_014244.5(ADAMTS2):c.1815C>T (p.Tyr605=)
|
rs369654932
|
0.00012
|
|
NM_014244.5(ADAMTS2):c.2994G>T (p.Arg998=)
|
rs780314895
|
0.00012
|
|
NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly)
|
rs142236568
|
0.00012
|
|
NM_014339.7(IL17RA):c.561C>T (p.His187=)
|
rs371342533
|
0.00012
|
|
NM_014363.6(SACS):c.1081A>G (p.Lys361Glu)
|
rs377027736
|
0.00012
|
|
NM_014363.6(SACS):c.2294A>G (p.Tyr765Cys)
|
rs141553858
|
0.00012
|
|
NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn)
|
rs144715822
|
0.00012
|
|
NM_014679.5(CEP57):c.764A>G (p.Asn255Ser)
|
rs768269976
|
0.00012
|
|
NM_014714.4(IFT140):c.2551G>A (p.Val851Met)
|
rs754753583
|
0.00012
|
|
NM_014714.4(IFT140):c.2768+12C>T
|
rs756491638
|
0.00012
|
|
NM_014795.4(ZEB2):c.2084G>A (p.Arg695Gln)
|
rs147693839
|
0.00012
|
|
NM_014908.4(DOLK):c.1446G>A (p.Ala482=)
|
rs201027607
|
0.00012
|
|
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys)
|
rs140116005
|
0.00012
|
|
NM_015102.5(NPHP4):c.279+6C>T
|
rs199856317
|
0.00012
|
|
NM_015178.3(RHOBTB2):c.788C>T (p.Pro263Leu)
|
rs143278893
|
0.00012
|
|
NM_015192.4(PLCB1):c.1761A>G (p.Val587=)
|
rs143755415
|
0.00012
|
|
NM_015192.4(PLCB1):c.28G>T (p.Ala10Ser)
|
rs150241349
|
0.00012
|
|
NM_015295.3(SMCHD1):c.2025G>A (p.Glu675=)
|
rs766575963
|
0.00012
|
|
NM_015627.3(LDLRAP1):c.622G>A (p.Ala208Thr)
|
rs146122441
|
0.00012
|
|
NM_016219.5(MAN1B1):c.768C>T (p.Val256=)
|
rs145906530
|
0.00012
|
|
NM_016648.4(LARP7):c.203-3T>G
|
rs201651306
|
0.00012
|
|
NM_016929.5(CLIC5):c.739C>T (p.Arg247Cys)
|
rs202022202
|
0.00012
|
|
NM_017739.4(POMGNT1):c.960C>G (p.Arg320=)
|
rs146933218
|
0.00012
|
|
NM_017775.4(TTC19):c.713T>C (p.Met238Thr)
|
rs140719848
|
0.00012
|
|
NM_017777.4(MKS1):c.515+8C>T
|
rs376823839
|
0.00012
|
|
NM_017780.4(CHD7):c.5310T>C (p.Asp1770=)
|
rs377723386
|
0.00012
|
|
NM_017780.4(CHD7):c.8193C>T (p.Ala2731=)
|
rs534427466
|
0.00012
|
|
NM_017849.4(TMEM127):c.665C>T (p.Ala222Val)
|
rs373951977
|
0.00012
|
|
NM_018249.6(CDK5RAP2):c.4399A>G (p.Ile1467Val)
|
rs139924571
|
0.00012
|
|
NM_018263.6(ASXL2):c.13G>A (p.Gly5Arg)
|
rs371056638
|
0.00012
|
|
NM_018389.5(SLC35C1):c.663G>A (p.Pro221=)
|
rs111773874
|
0.00012
|
|
NM_018699.4(PRDM5):c.1605C>T (p.His535=)
|
rs150476884
|
0.00012
|
|
NM_018699.4(PRDM5):c.508C>T (p.Pro170Ser)
|
rs746068577
|
0.00012
|
|
NM_018714.3(COG1):c.1230G>A (p.Pro410=)
|
rs148502827
|
0.00012
|
|
NM_018714.3(COG1):c.384G>A (p.Pro128=)
|
rs142827255
|
0.00012
|
|
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met)
|
rs199529910
|
0.00012
|
|
NM_018979.4(WNK1):c.4788A>G (p.Gln1596=)
|
rs371448826
|
0.00012
|
|
NM_019892.6(INPP5E):c.1136G>A (p.Arg379Lys)
|
rs200518324
|
0.00012
|
|
NM_020191.4(MRPS22):c.767G>A (p.Arg256His)
|
rs149674843
|
0.00012
|
|
NM_020442.6(VARS2):c.2375A>G (p.Glu792Gly)
|
rs368546838
|
0.00012
|
|
NM_020754.4(ARHGAP31):c.499G>A (p.Ala167Thr)
|
rs139733647
|
0.00012
|
|
NM_020822.3(KCNT1):c.1899G>A (p.Ser633=)
|
rs371135108
|
0.00012
|
|
NM_020937.4(FANCM):c.5832G>T (p.Leu1944Phe)
|
rs201017015
|
0.00012
|
|
NM_020975.6(RET):c.398G>A (p.Arg133His)
|
rs138265837
|
0.00012
|
|
NM_021116.4(ADCY1):c.2338G>A (p.Val780Ile)
|
rs140746527
|
0.00012
|
|
NM_021957.4(GYS2):c.630G>A (p.Gly210=)
|
rs201503558
|
0.00012
|
|
NM_022089.4(ATP13A2):c.1711G>A (p.Asp571Asn)
|
rs369863178
|
0.00012
|
|
NM_022098.4(XPNPEP3):c.718A>T (p.Ile240Leu)
|
rs137859412
|
0.00012
|
|
NM_022124.6(CDH23):c.2235C>T (p.Ile745=)
|
rs368841307
|
0.00012
|
|
NM_022437.3(ABCG8):c.578C>T (p.Ala193Val)
|
rs376362072
|
0.00012
|
|
NM_022489.4(INF2):c.1264C>T (p.Pro422Ser)
|
rs767748953
|
0.00012
|
|
NM_024301.5(FKRP):c.954C>T (p.Cys318=)
|
rs755968761
|
0.00012
|
|
NM_024312.5(GNPTAB):c.2028G>A (p.Pro676=)
|
rs192607073
|
0.00012
|
|
NM_024408.4(NOTCH2):c.786T>C (p.Asp262=)
|
rs374224226
|
0.00012
|
|
NM_024700.4(SNIP1):c.559C>T (p.Arg187Trp)
|
rs186332019
|
0.00012
|
|
NM_024753.5(TTC21B):c.3415G>A (p.Val1139Ile)
|
rs201162086
|
0.00012
|
|
NM_025074.7(FRAS1):c.10389G>A (p.Gln3463=)
|
rs757163658
|
0.00012
|
|
NM_025074.7(FRAS1):c.2862G>A (p.Thr954=)
|
rs144065807
|
0.00012
|
|
NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn)
|
rs727503854
|
0.00012
|
|
NM_030777.4(SLC2A10):c.1571G>A (p.Arg524Lys)
|
rs370141550
|
0.00012
|
|
NM_030928.4(CDT1):c.933+3G>A
|
rs146476365
|
0.00012
|
|
NM_031475.3(ESPN):c.1489G>A (p.Gly497Arg)
|
rs752185152
|
0.00012
|
|
NM_032119.4(ADGRV1):c.18879C>T (p.Ile6293=)
|
rs372350188
|
0.00012
|
|
NM_032119.4(ADGRV1):c.8401G>A (p.Gly2801Arg)
|
rs760510612
|
0.00012
|
|
NM_032409.3(PINK1):c.1251+10G>A
|
rs192131551
|
0.00012
|
|
NM_032578.4(MYPN):c.3934C>T (p.Arg1312Trp)
|
rs142354704
|
0.00012
|
|
NM_033026.6(PCLO):c.13391C>T (p.Pro4464Leu)
|
rs200789291
|
0.00012
|
|
NM_033159.4(HYAL1):c.1041C>T (p.Phe347=)
|
rs377105091
|
0.00012
|
|
NM_033380.3(COL4A5):c.488T>C (p.Met163Thr)
|
rs142503631
|
0.00012
|
|
NM_052844.4(DYNC2I2):c.1310A>G (p.Tyr437Cys)
|
rs186236478
|
0.00012
|
|
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu)
|
rs201332554
|
0.00012
|
|
NM_053025.4(MYLK):c.3112A>G (p.Met1038Val)
|
rs763247566
|
0.00012
|
|
NM_053025.4(MYLK):c.4336G>A (p.Glu1446Lys)
|
rs146682969
|
0.00012
|
|
NM_080680.3(COL11A2):c.3328C>T (p.Pro1110Ser)
|
rs141164483
|
0.00012
|
|
NM_080680.3(COL11A2):c.4291C>T (p.Arg1431Trp)
|
rs369126897
|
0.00012
|
|
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser)
|
rs139116571
|
0.00012
|
|
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=)
|
rs12627793
|
0.00012
|
|
NM_138694.4(PKHD1):c.3804C>T (p.Ala1268=)
|
rs201769990
|
0.00012
|
|
NM_138694.4(PKHD1):c.5829C>T (p.Gly1943=)
|
rs376709130
|
0.00012
|
|
NM_138694.4(PKHD1):c.5910G>A (p.Gly1970=)
|
rs200730851
|
0.00012
|
|
NM_144670.6(A2ML1):c.2464G>A (p.Val822Ile)
|
rs201752325
|
0.00012
|
|
NM_144997.7(FLCN):c.977C>T (p.Pro326Leu)
|
rs138031155
|
0.00012
|
|
NM_152564.5(VPS13B):c.2470T>G (p.Ser824Ala)
|
rs149866274
|
0.00012
|
|
NM_152564.5(VPS13B):c.5884G>T (p.Val1962Leu)
|
rs375399419
|
0.00012
|
|
NM_152713.5(STT3A):c.615+6T>C
|
rs767197223
|
0.00012
|
|
NM_153603.4(COG7):c.2013G>A (p.Leu671=)
|
rs370447404
|
0.00012
|
|
NM_175875.5(SIX5):c.2189C>T (p.Ser730Leu)
|
rs150045306
|
0.00012
|
|
NM_177438.3(DICER1):c.4802A>T (p.Lys1601Met)
|
rs181018393
|
0.00012
|
|
NM_182961.4(SYNE1):c.20142C>T (p.Ser6714=)
|
rs201908045
|
0.00012
|
|
NM_182961.4(SYNE1):c.23757G>A (p.Ser7919=)
|
rs377113267
|
0.00012
|
|
NM_183075.3(CYP2U1):c.1004G>C (p.Ser335Thr)
|
rs142944337
|
0.00012
|
|
NM_183357.3(ADCY5):c.1174G>A (p.Val392Met)
|
rs140572299
|
0.00012
|
|
NM_183357.3(ADCY5):c.400G>A (p.Gly134Ser)
|
rs988224463
|
0.00012
|
|
NM_194248.3(OTOF):c.2180A>G (p.Asn727Ser)
|
rs200654171
|
0.00012
|
|
NM_194248.3(OTOF):c.2523+5G>A
|
rs201745796
|
0.00012
|
|
NM_194454.3(KRIT1):c.1868G>A (p.Arg623His)
|
rs143644029
|
0.00012
|
|
NM_198129.4(LAMA3):c.6389C>T (p.Ser2130Phe)
|
rs199684626
|
0.00012
|
|
NM_198334.3(GANAB):c.2588G>A (p.Arg863His)
|
rs146501208
|
0.00012
|
|
NM_198334.3(GANAB):c.920C>G (p.Pro307Arg)
|
rs201801499
|
0.00012
|
|
NM_198576.4(AGRN):c.1557C>T (p.Ala519=)
|
rs146185843
|
0.00012
|
|
NM_198578.4(LRRK2):c.177T>A (p.Asn59Lys)
|
rs150422099
|
0.00012
|
|
NM_198965.2(PTHLH):c.-1G>A
|
rs146647632
|
0.00012
|
|
NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser)
|
rs62636290
|
0.00012
|
|
NM_201384.3(PLEC):c.10130G>A (p.Arg3377Gln)
|
rs375724891
|
0.00012
|
|
NM_201384.3(PLEC):c.13470C>T (p.Arg4490=)
|
rs531535217
|
0.00012
|
|
NM_201384.3(PLEC):c.3287G>A (p.Arg1096His)
|
rs375617818
|
0.00012
|
|
NM_201525.4(ADGRG1):c.487A>C (p.Ser163Arg)
|
rs373741981
|
0.00012
|
|
NM_206933.4(USH2A):c.7924A>G (p.Ile2642Val)
|
rs143523460
|
0.00012
|
|
NM_207361.6(FREM2):c.1737C>T (p.Ile579=)
|
rs144811771
|
0.00012
|
|
NM_000018.4(ACADVL):c.*8C>T
|
rs370513576
|
0.00011
|
|
NM_000018.4(ACADVL):c.1239A>G (p.Ile413Met)
|
rs143172658
|
0.00011
|
|
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys)
|
rs369664123
|
0.00011
|
|
NM_000030.3(AGXT):c.885G>A (p.Ala295=)
|
rs377132245
|
0.00011
|
|
NM_000035.4(ALDOB):c.1011G>A (p.Gln337=)
|
rs566549564
|
0.00011
|
|
NM_000037.4(ANK1):c.3234C>T (p.Pro1078=)
|
rs755219802
|
0.00011
|
|
NM_000037.4(ANK1):c.3288G>A (p.Pro1096=)
|
rs140964621
|
0.00011
|
|
NM_000037.4(ANK1):c.3984+12C>T
|
rs200019819
|
0.00011
|
|
NM_000038.6(APC):c.-43A>C
|
rs879254014
|
0.00011
|
|
NM_000038.6(APC):c.277C>G (p.Leu93Val)
|
rs201567345
|
0.00011
|
|
NM_000038.6(APC):c.3875C>T (p.Thr1292Met)
|
rs371113837
|
0.00011
|
|
NM_000038.6(APC):c.7621A>G (p.Ile2541Val)
|
rs587778033
|
0.00011
|
|
NM_000048.4(ASL):c.1047C>G (p.Val349=)
|
rs187877947
|
0.00011
|
|
NM_000049.4(ASPA):c.78C>T (p.Thr26=)
|
rs145616193
|
0.00011
|
|
NM_000051.4(ATM):c.2346A>G (p.Leu782=)
|
rs730881285
|
0.00011
|
|
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu)
|
rs3092907
|
0.00011
|
|
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu)
|
rs201963507
|
0.00011
|
|
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile)
|
rs4988125
|
0.00011
|
|
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=)
|
rs370947152
|
0.00011
|
|
NM_000057.4(BLM):c.1086C>T (p.Asp362=)
|
rs375632163
|
0.00011
|
|
NM_000057.4(BLM):c.1097T>C (p.Ile366Thr)
|
rs571152089
|
0.00011
|
|
NM_000057.4(BLM):c.1315A>G (p.Met439Val)
|
rs201231857
|
0.00011
|
|
NM_000059.4(BRCA2):c.2680G>A (p.Val894Ile)
|
rs28897715
|
0.00011
|
|
NM_000059.4(BRCA2):c.341A>G (p.His114Arg)
|
rs80358586
|
0.00011
|
|
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro)
|
rs56172926
|
0.00011
|
|
NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser)
|
rs79483201
|
0.00011
|
|
NM_000059.4(BRCA2):c.9501+9A>C
|
rs81002867
|
0.00011
|
|
NM_000062.3(SERPING1):c.1453C>G (p.Gln485Glu)
|
rs143997164
|
0.00011
|
|
NM_000064.4(C3):c.2047+7G>A
|
rs770932217
|
0.00011
|
|
NM_000069.3(CACNA1S):c.3190G>A (p.Val1064Ile)
|
rs138837077
|
0.00011
|
|
NM_000069.3(CACNA1S):c.4639C>T (p.Arg1547Trp)
|
rs757433005
|
0.00011
|
|
NM_000070.3(CAPN3):c.1521C>T (p.Tyr507=)
|
rs370231427
|
0.00011
|
|
NM_000079.4(CHRNA1):c.1002+9G>A
|
rs368959759
|
0.00011
|
|
NM_000079.4(CHRNA1):c.948C>A (p.Ile316=)
|
rs141733086
|
0.00011
|
|
NM_000088.4(COL1A1):c.77G>A (p.Gly26Asp)
|
rs151171179
|
0.00011
|
|
NM_000090.4(COL3A1):c.1856C>T (p.Pro619Leu)
|
rs373838193
|
0.00011
|
|
NM_000090.4(COL3A1):c.226A>G (p.Asn76Asp)
|
rs142045411
|
0.00011
|
|
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg)
|
rs144614075
|
0.00011
|
|
NM_000091.5(COL4A3):c.1790C>T (p.Pro597Leu)
|
rs781163705
|
0.00011
|
|
NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln)
|
rs200443942
|
0.00011
|
|
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp)
|
rs577618553
|
0.00011
|
|
NM_000094.4(COL7A1):c.1910C>T (p.Pro637Leu)
|
rs199967174
|
0.00011
|
|
NM_000094.4(COL7A1):c.3232C>T (p.Arg1078Cys)
|
rs149154108
|
0.00011
|
|
NM_000094.4(COL7A1):c.4069G>A (p.Gly1357Arg)
|
rs200741847
|
0.00011
|
|
NM_000094.4(COL7A1):c.4859G>A (p.Arg1620Gln)
|
rs373682717
|
0.00011
|
|
NM_000097.7(CPOX):c.299A>T (p.Glu100Val)
|
rs367822877
|
0.00011
|
|
NM_000098.3(CPT2):c.45G>T (p.Ala15=)
|
rs761850684
|
0.00011
|
|
NM_000110.4(DPYD):c.2303C>A (p.Thr768Lys)
|
rs56005131
|
0.00011
|
|
NM_000117.3(EMD):c.598T>C (p.Trp200Arg)
|
rs374981936
|
0.00011
|
|
NM_000135.4(FANCA):c.2029G>A (p.Val677Met)
|
rs767396631
|
0.00011
|
|
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu)
|
rs139289675
|
0.00011
|
|
NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys)
|
rs376103033
|
0.00011
|
|
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys)
|
rs143181565
|
0.00011
|
|
NM_000137.4(FAH):c.870C>T (p.Asp290=)
|
rs377480457
|
0.00011
|
|
NM_000138.5(FBN1):c.1821T>C (p.Asp607=)
|
rs149133920
|
0.00011
|
|
NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg)
|
rs767606368
|
0.00011
|
|
NM_000138.5(FBN1):c.7560G>A (p.Thr2520=)
|
rs760425899
|
0.00011
|
|
NM_000141.5(FGFR2):c.289G>A (p.Ala97Thr)
|
rs372430349
|
0.00011
|
|
NM_000141.5(FGFR2):c.625-10A>G
|
rs201512833
|
0.00011
|
|
NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln)
|
rs199757302
|
0.00011
|
|
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser)
|
rs139773438
|
0.00011
|
|
NM_000151.4(G6PC1):c.910G>A (p.Val304Ile)
|
rs768385469
|
0.00011
|
|
NM_000153.4(GALC):c.328+6A>G
|
rs201977747
|
0.00011
|
|
NM_000155.4(GALT):c.378-12G>A
|
rs151309174
|
0.00011
|
|
NM_000156.6(GAMT):c.707G>C (p.Gly236Ala)
|
rs201029006
|
0.00011
|
|
NM_000162.5(GCK):c.363+9C>T
|
rs200985182
|
0.00011
|
|
NM_000169.3(GLA):c.48T>G (p.Leu16=)
|
rs201449986
|
0.00011
|
|
NM_000170.3(GLDC):c.1926+6T>C
|
rs200007891
|
0.00011
|
|
NM_000170.3(GLDC):c.2149A>G (p.Ile717Val)
|
rs117460214
|
0.00011
|
|
NM_000179.3(MSH6):c.124C>T (p.Pro42Ser)
|
rs34014629
|
0.00011
|
|
NM_000179.3(MSH6):c.3674C>T (p.Thr1225Met)
|
rs63750370
|
0.00011
|
|
NM_000179.3(MSH6):c.628-7C>A
|
rs373129248
|
0.00011
|
|
NM_000179.3(MSH6):c.942C>G (p.Ser314Arg)
|
rs150440246
|
0.00011
|
|
NM_000187.4(HGD):c.141G>A (p.Ser47=)
|
rs541268108
|
0.00011
|
|
NM_000188.3(HK1):c.1015G>A (p.Val339Met)
|
rs138492927
|
0.00011
|
|
NM_000198.4(HSD3B2):c.423C>T (p.His141=)
|
rs751470493
|
0.00011
|
|
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr)
|
rs746809894
|
0.00011
|
|
NM_000211.5(ITGB2):c.537C>T (p.Phe179=)
|
rs371548080
|
0.00011
|
|
NM_000214.3(JAG1):c.1146C>T (p.Asn382=)
|
rs200133928
|
0.00011
|
|
NM_000214.3(JAG1):c.2286C>T (p.Asn762=)
|
rs144190443
|
0.00011
|
|
NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln)
|
rs149419694
|
0.00011
|
|
NM_000215.4(JAK3):c.119G>A (p.Arg40His)
|
rs56384680
|
0.00011
|
|
NM_000215.4(JAK3):c.649G>A (p.Val217Met)
|
rs202167678
|
0.00011
|
|
NM_000218.3(KCNQ1):c.*266G>A
|
rs113029000
|
0.00011
|
|
NM_000218.3(KCNQ1):c.1388G>C (p.Ser463Thr)
|
rs184636161
|
0.00011
|
|
NM_000222.3(KIT):c.978C>T (p.Asn326=)
|
rs148594615
|
0.00011
|
|
NM_000230.3(LEP):c.21C>T (p.Cys7=)
|
rs201523305
|
0.00011
|
|
NM_000231.3(SGCG):c.102C>T (p.Arg34=)
|
rs140810408
|
0.00011
|
|
NM_000238.4(KCNH2):c.1641G>A (p.Ala547=)
|
rs149902084
|
0.00011
|
|
NM_000243.3(MEFV):c.1171G>A (p.Asp391Asn)
|
rs764274816
|
0.00011
|
|
NM_000243.3(MEFV):c.1341G>C (p.Lys447Asn)
|
rs756322372
|
0.00011
|
|
NM_000243.3(MEFV):c.1522C>G (p.Leu508Val)
|
rs199937453
|
0.00011
|
|
NM_000245.4(MET):c.2378G>A (p.Arg793His)
|
rs199643166
|
0.00011
|
|
NM_000246.4(CIITA):c.2405G>A (p.Arg802Gln)
|
rs201182990
|
0.00011
|
|
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser)
|
rs150478207
|
0.00011
|
|
NM_000249.4(MLH1):c.884+16A>G
|
rs377598055
|
0.00011
|
|
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)
|
rs17217723
|
0.00011
|
|
NM_000251.3(MSH2):c.1387-4G>C
|
rs376796243
|
0.00011
|
|
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu)
|
rs35107951
|
0.00011
|
|
NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala)
|
rs548407418
|
0.00011
|
|
NM_000251.3(MSH2):c.198C>T (p.Tyr66=)
|
rs730881784
|
0.00011
|
|
NM_000251.3(MSH2):c.2203A>G (p.Ile735Val)
|
rs2229061
|
0.00011
|
|
NM_000251.3(MSH2):c.2308A>G (p.Ile770Val)
|
rs63750684
|
0.00011
|
|
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter)
|
rs551060742
|
0.00011
|
|
NM_000251.3(MSH2):c.508C>G (p.Gln170Glu)
|
rs63750843
|
0.00011
|
|
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser)
|
rs151129360
|
0.00011
|
|
NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr)
|
rs199552354
|
0.00011
|
|
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr)
|
rs202080237
|
0.00011
|
|
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=)
|
rs367668576
|
0.00011
|
|
NM_000260.4(MYO7A):c.4130T>C (p.Phe1377Ser)
|
rs777168937
|
0.00011
|
|
NM_000260.4(MYO7A):c.4694C>T (p.Thr1565Met)
|
rs764915160
|
0.00011
|
|
NM_000260.4(MYO7A):c.895G>A (p.Ala299Thr)
|
rs372344870
|
0.00011
|
|
NM_000264.5(PTCH1):c.560G>A (p.Arg187His)
|
rs138034434
|
0.00011
|
|
NM_000268.4(NF2):c.1385G>A (p.Arg462His)
|
rs373650983
|
0.00011
|
|
NM_000271.5(NPC1):c.1431G>A (p.Thr477=)
|
rs375307057
|
0.00011
|
|
NM_000274.4(OAT):c.478G>A (p.Val160Met)
|
rs148433929
|
0.00011
|
|
NM_000275.3(OCA2):c.1785-7C>G
|
rs375281082
|
0.00011
|
|
NM_000286.3(PEX12):c.1002G>A (p.Arg334=)
|
rs200283718
|
0.00011
|
|
NM_000289.6(PFKM):c.1063-5C>T
|
rs758178966
|
0.00011
|
|
NM_000289.6(PFKM):c.2121G>A (p.Ser707=)
|
rs370046842
|
0.00011
|
|
NM_000289.6(PFKM):c.638+15C>A
|
rs376150217
|
0.00011
|
|
NM_000290.4(PGAM2):c.480T>C (p.Ile160=)
|
rs780650903
|
0.00011
|
|
NM_000293.3(PHKB):c.1759A>C (p.Met587Leu)
|
rs140636792
|
0.00011
|
|
NM_000295.5(SERPINA1):c.1069G>A (p.Val357Met)
|
rs373630097
|
0.00011
|
|
NM_000295.5(SERPINA1):c.1206T>C (p.Asn402=)
|
rs766128806
|
0.00011
|
|
NM_000295.5(SERPINA1):c.244G>A (p.Ala82Thr)
|
rs113817720
|
0.00011
|
|
NM_000295.5(SERPINA1):c.718G>A (p.Val240Met)
|
rs72552401
|
0.00011
|
|
NM_000298.6(PKLR):c.805G>T (p.Val269Phe)
|
rs200695047
|
0.00011
|
|
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr)
|
rs202004587
|
0.00011
|
|
NM_000321.3(RB1):c.59C>T (p.Pro20Leu)
|
rs587778637
|
0.00011
|
|
NM_000322.5(PRPH2):c.781C>T (p.Leu261Phe)
|
rs150381599
|
0.00011
|
|
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val)
|
rs372019457
|
0.00011
|
|
NM_000335.5(SCN5A):c.5364C>T (p.Asp1788=)
|
rs375752426
|
0.00011
|
|
NM_000337.6(SGCD):c.191T>C (p.Ile64Thr)
|
rs376780156
|
0.00011
|
|
NM_000341.4(SLC3A1):c.1973G>A (p.Arg658His)
|
rs370262167
|
0.00011
|
|
NM_000359.3(TGM1):c.923G>A (p.Arg308Gln)
|
rs201328637
|
0.00011
|
|
NM_000360.4(TH):c.1383G>A (p.Pro461=)
|
rs552808212
|
0.00011
|
|
NM_000362.5(TIMP3):c.587G>A (p.Arg196Gln)
|
rs142288050
|
0.00011
|
|
NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln)
|
rs199755731
|
0.00011
|
|
NM_000372.5(TYR):c.1161T>C (p.Leu387=)
|
rs141967840
|
0.00011
|
|
NM_000377.3(WAS):c.206G>C (p.Cys69Ser)
|
rs374283590
|
0.00011
|
|
NM_000383.4(AIRE):c.1394G>A (p.Arg465Gln)
|
rs139835427
|
0.00011
|
|
NM_000383.4(AIRE):c.354C>G (p.Val118=)
|
rs528667089
|
0.00011
|
|
NM_000383.4(AIRE):c.825G>C (p.Gln275His)
|
rs1027582142
|
0.00011
|
|
NM_000384.3(APOB):c.2204T>A (p.Val735Glu)
|
rs199872875
|
0.00011
|
|
NM_000384.3(APOB):c.4111G>A (p.Ala1371Thr)
|
rs780170292
|
0.00011
|
|
NM_000384.3(APOB):c.5650A>G (p.Asn1884Asp)
|
rs146472818
|
0.00011
|
|
NM_000384.3(APOB):c.574G>A (p.Val192Ile)
|
rs200662943
|
0.00011
|
|
NM_000384.3(APOB):c.7759G>C (p.Val2587Leu)
|
rs375855688
|
0.00011
|
|
NM_000384.3(APOB):c.8855G>T (p.Gly2952Val)
|
rs369472561
|
0.00011
|
|
NM_000384.3(APOB):c.890G>A (p.Arg297His)
|
rs147223101
|
0.00011
|
|
NM_000391.4(TPP1):c.1653C>G (p.Pro551=)
|
rs372564255
|
0.00011
|
|
NM_000392.5(ABCC2):c.763C>T (p.Arg255Trp)
|
rs147494662
|
0.00011
|
|
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg)
|
rs144602736
|
0.00011
|
|
NM_000393.5(COL5A2):c.3919C>G (p.Gln1307Glu)
|
rs142814184
|
0.00011
|
|
NM_000400.4(ERCC2):c.1119-3C>T
|
rs41547016
|
0.00011
|
|
NM_000400.4(ERCC2):c.2195A>G (p.Asp732Gly)
|
rs201828535
|
0.00011
|
|
NM_000414.4(HSD17B4):c.1317A>G (p.Val439=)
|
rs771922933
|
0.00011
|
|
NM_000426.4(LAMA2):c.1373G>A (p.Arg458Lys)
|
rs140604077
|
0.00011
|
|
NM_000426.4(LAMA2):c.3004G>A (p.Gly1002Ser)
|
rs200953311
|
0.00011
|
|
NM_000426.4(LAMA2):c.3597T>C (p.Asp1199=)
|
rs199904029
|
0.00011
|
|
NM_000426.4(LAMA2):c.4992C>T (p.Thr1664=)
|
rs143078882
|
0.00011
|
|
NM_000426.4(LAMA2):c.6206A>G (p.Tyr2069Cys)
|
rs117884199
|
0.00011
|
|
NM_000426.4(LAMA2):c.8842G>A (p.Gly2948Ser)
|
rs143638361
|
0.00011
|
|
NM_000435.3(NOTCH3):c.1774C>A (p.Arg592Ser)
|
rs764148985
|
0.00011
|
|
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met)
|
rs148716935
|
0.00011
|
|
NM_000443.4(ABCB4):c.2047G>A (p.Val683Met)
|
rs776616540
|
0.00011
|
|
NM_000455.5(STK11):c.1038C>T (p.Gly346=)
|
rs767565606
|
0.00011
|
|
NM_000455.5(STK11):c.825G>A (p.Pro275=)
|
rs202011521
|
0.00011
|
|
NM_000458.4(HNF1B):c.420C>T (p.Val140=)
|
rs370134885
|
0.00011
|
|
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val)
|
rs201140528
|
0.00011
|
|
NM_000466.3(PEX1):c.1587+5T>C
|
rs199526105
|
0.00011
|
|
NM_000466.3(PEX1):c.1700T>G (p.Leu567Trp)
|
rs199989676
|
0.00011
|
|
NM_000466.3(PEX1):c.1815A>G (p.Lys605=)
|
rs112688556
|
0.00011
|
|
NM_000492.4(CFTR):c.2620-97C>T
|
rs146376436
|
0.00011
|
|
NM_000503.6(EYA1):c.325T>C (p.Tyr109His)
|
rs141779040
|
0.00011
|
|
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr)
|
rs201504674
|
0.00011
|
|
NM_000520.6(HEXA):c.548T>A (p.Leu183His)
|
rs185797496
|
0.00011
|
|
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile)
|
rs140731590
|
0.00011
|
|
NM_000527.5(LDLR):c.2389+8C>T
|
rs747170426
|
0.00011
|
|
NM_000531.6(OTC):c.140A>C (p.Asn47Thr)
|
rs67939655
|
0.00011
|
|
NM_000535.7(PMS2):c.1555T>C (p.Tyr519His)
|
rs370236216
|
0.00011
|
|
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val)
|
rs63751300
|
0.00011
|
|
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)
|
rs116788608
|
0.00011
|
|
NM_000539.3(RHO):c.959C>A (p.Thr320Asn)
|
rs138831590
|
0.00011
|
|
NM_000540.3(RYR1):c.14196C>A (p.Ile4732=)
|
rs201670423
|
0.00011
|
|
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln)
|
rs200069592
|
0.00011
|
|
NM_000540.3(RYR1):c.6600G>A (p.Ala2200=)
|
rs375640581
|
0.00011
|
|
NM_000540.3(RYR1):c.8073C>T (p.Tyr2691=)
|
rs202160739
|
0.00011
|
|
NM_000543.5(SMPD1):c.349G>A (p.Val117Met)
|
rs202206564
|
0.00011
|
|
NM_000543.5(SMPD1):c.729C>T (p.Ala243=)
|
rs149476159
|
0.00011
|
|
NM_000543.5(SMPD1):c.909A>G (p.Ala303=)
|
rs201134693
|
0.00011
|
|
NM_000546.6(TP53):c.97-9C>T
|
rs202217267
|
0.00011
|
|
NM_000548.5(TSC2):c.3827C>T (p.Ser1276Phe)
|
rs45478595
|
0.00011
|
|
NM_000548.5(TSC2):c.4579T>C (p.Phe1527Leu)
|
rs45514391
|
0.00011
|
|
NM_000642.3(AGL):c.3231G>A (p.Lys1077=)
|
rs138063386
|
0.00011
|
|
NM_000744.7(CHRNA4):c.1715A>G (p.Gln572Arg)
|
rs113794453
|
0.00011
|
|
NM_000744.7(CHRNA4):c.589C>T (p.Arg197Cys)
|
rs144716263
|
0.00011
|
|
NM_000817.3(GAD1):c.1120-8C>A
|
rs113638388
|
0.00011
|
|
NM_000834.5(GRIN2B):c.3076G>A (p.Gly1026Ser)
|
rs201963596
|
0.00011
|
|
NM_000836.4(GRIN2D):c.3244A>G (p.Thr1082Ala)
|
rs1459290952
|
0.00011
|
|
NM_000843.4(GRM6):c.2398G>A (p.Val800Met)
|
rs369642678
|
0.00011
|
|
NM_000890.5(KCNJ5):c.133G>A (p.Glu45Lys)
|
rs372447456
|
0.00011
|
|
NM_000891.3(KCNJ2):c.168T>C (p.Val56=)
|
rs370111593
|
0.00011
|
|
NM_001005242.3(PKP2):c.1740G>T (p.Glu580Asp)
|
rs370219248
|
0.00011
|
|
NM_001005242.3(PKP2):c.2392G>A (p.Val798Ile)
|
rs368633311
|
0.00011
|
|
NM_001005361.3(DNM2):c.2592C>T (p.Ala864=)
|
rs373161548
|
0.00011
|
|
NM_001005498.4(RHBDF2):c.361C>T (p.Arg121Cys)
|
rs187556554
|
0.00011
|
|
NM_001008537.3(NEXMIF):c.3402C>A (p.His1134Gln)
|
rs138632224
|
0.00011
|
|
NM_001017420.3(ESCO2):c.325T>C (p.Cys109Arg)
|
rs199653554
|
0.00011
|
|
NM_001017995.3(SH3PXD2B):c.1398C>T (p.Pro466=)
|
rs140209484
|
0.00011
|
|
NM_001031689.3(PLAA):c.298G>T (p.Asp100Tyr)
|
rs201814139
|
0.00011
|
|
NM_001032283.3(TMPO):c.949A>T (p.Ile317Leu)
|
rs368800243
|
0.00011
|
|
NM_001035.3(RYR2):c.14808+3A>G
|
rs377491955
|
0.00011
|
|
NM_001035.3(RYR2):c.7542G>A (p.Leu2514=)
|
rs371088367
|
0.00011
|
|
NM_001035.3(RYR2):c.8419A>G (p.Ile2807Val)
|
rs1394059438
|
0.00011
|
|
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met)
|
rs371147744
|
0.00011
|
|
NM_001039213.4(CEACAM16):c.527G>A (p.Arg176His)
|
rs746541677
|
0.00011
|
|
NM_001040142.2(SCN2A):c.5121G>A (p.Leu1707=)
|
rs377063535
|
0.00011
|
|
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys)
|
rs139899756
|
0.00011
|
|
NM_001040716.2(PC):c.2783G>A (p.Arg928Gln)
|
rs755385132
|
0.00011
|
|
NM_001040716.2(PC):c.904-11C>T
|
rs200473405
|
0.00011
|
|
NM_001042492.3(NF1):c.3621A>G (p.Arg1207=)
|
rs141390152
|
0.00011
|
|
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys)
|
rs377662483
|
0.00011
|
|
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val)
|
rs35352891
|
0.00011
|
|
NM_001048174.2(MUTYH):c.1464G>A (p.Pro488=)
|
rs143796254
|
0.00011
|
|
NM_001065.4(TNFRSF1A):c.1328G>T (p.Gly443Val)
|
rs201062001
|
0.00011
|
|
NM_001077365.2(POMT1):c.2061G>A (p.Ala687=)
|
rs200916353
|
0.00011
|
|
NM_001080414.4(CCDC88C):c.4412G>A (p.Arg1471His)
|
rs201606038
|
0.00011
|
|
NM_001080414.4(CCDC88C):c.5112C>T (p.Ser1704=)
|
rs199730476
|
0.00011
|
|
NM_001080414.4(CCDC88C):c.5331G>C (p.Leu1777=)
|
rs759310053
|
0.00011
|
|
NM_001080449.3(DNA2):c.2618A>G (p.Tyr873Cys)
|
rs200309792
|
0.00011
|
|
NM_001080517.3(SETD5):c.1546G>A (p.Glu516Lys)
|
rs147867570
|
0.00011
|
|
NM_001101426.4(CRPPA):c.123G>C (p.Gly41=)
|
rs761842188
|
0.00011
|
|
NM_001101426.4(CRPPA):c.243A>G (p.Leu81=)
|
rs763209907
|
0.00011
|
|
NM_001105206.3(LAMA4):c.1788C>A (p.Asp596Glu)
|
rs145986920
|
0.00011
|
|
NM_001105206.3(LAMA4):c.2719G>A (p.Val907Ile)
|
rs138030555
|
0.00011
|
|
NM_001110556.2(FLNA):c.1238C>T (p.Thr413Met)
|
rs782549299
|
0.00011
|
|
NM_001110556.2(FLNA):c.6993C>T (p.Asp2331=)
|
rs201153928
|
0.00011
|
|
NM_001113491.2(SEPTIN9):c.1460T>C (p.Val487Ala)
|
rs376712636
|
0.00011
|
|
NM_001114753.3(ENG):c.1135-8C>T
|
rs79426098
|
0.00011
|
|
NM_001122955.4(BSCL2):c.588C>T (p.Cys196=)
|
rs369806785
|
0.00011
|
|
NM_001123385.2(BCOR):c.4320T>C (p.Pro1440=)
|
rs753786462
|
0.00011
|
|
NM_001126108.2(SLC12A3):c.2490C>T (p.Thr830=)
|
rs539069621
|
0.00011
|
|
NM_001126121.2(SLC25A19):c.565G>A (p.Ala189Thr)
|
rs144393784
|
0.00011
|
|
NM_001127222.2(CACNA1A):c.1782-6C>T
|
rs201350764
|
0.00011
|
|
NM_001127644.2(GABRA1):c.612C>T (p.Arg204=)
|
rs374616425
|
0.00011
|
|
NM_001127898.4(CLCN5):c.1635G>T (p.Gln545His)
|
rs148124447
|
0.00011
|
|
NM_001128225.3(SLC39A13):c.888C>T (p.Phe296=)
|
rs150556863
|
0.00011
|
|
NM_001128840.3(CACNA1D):c.6100C>T (p.Arg2034Trp)
|
rs142692903
|
0.00011
|
|
NM_001130823.3(DNMT1):c.3097C>T (p.Arg1033Trp)
|
rs144533539
|
0.00011
|
|
NM_001130823.3(DNMT1):c.4876G>A (p.Glu1626Lys)
|
rs201774098
|
0.00011
|
|
NM_001130823.3(DNMT1):c.868G>A (p.Glu290Lys)
|
rs200024502
|
0.00011
|
|
NM_001130987.2(DYSF):c.2864+8G>A
|
rs371686795
|
0.00011
|
|
NM_001130987.2(DYSF):c.5884+6C>T
|
rs144355449
|
0.00011
|
|
NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala)
|
rs150029218
|
0.00011
|
|
NM_001134363.3(RBM20):c.544C>A (p.Pro182Thr)
|
rs397516622
|
0.00011
|
|
NM_001142800.2(EYS):c.1349A>C (p.Asn450Thr)
|
rs138255012
|
0.00011
|
|
NM_001142800.2(EYS):c.1382G>A (p.Cys461Tyr)
|
rs76754818
|
0.00011
|
|
NM_001142864.4(PIEZO1):c.1370G>A (p.Arg457His)
|
rs371267171
|
0.00011
|
|
NM_001145809.2(MYH14):c.3304C>T (p.Arg1102Trp)
|
rs397516629
|
0.00011
|
|
NM_001145809.2(MYH14):c.4731C>T (p.Ser1577=)
|
rs766728732
|
0.00011
|
|
NM_001148.6(ANK2):c.1673T>C (p.Leu558Ser)
|
rs139199018
|
0.00011
|
|
NM_001148.6(ANK2):c.8144C>T (p.Ser2715Phe)
|
rs147619875
|
0.00011
|
|
NM_001148.6(ANK2):c.9841C>G (p.Gln3281Glu)
|
rs372534074
|
0.00011
|
|
NM_001160372.4(TRAPPC9):c.1194C>T (p.Ile398=)
|
rs587780484
|
0.00011
|
|
NM_001161352.2(KCNMA1):c.24C>T (p.Gly8=)
|
rs748427000
|
0.00011
|
|
NM_001164508.2(NEB):c.13661G>A (p.Ser4554Asn)
|
rs1057522021
|
0.00011
|
|
NM_001164508.2(NEB):c.17242C>T (p.Arg5748Trp)
|
rs546869744
|
0.00011
|
|
NM_001164508.2(NEB):c.17518G>A (p.Ala5840Thr)
|
rs376277385
|
0.00011
|
|
NM_001164508.2(NEB):c.18860G>A (p.Arg6287His)
|
rs200195063
|
0.00011
|
|
NM_001164508.2(NEB):c.19865G>A (p.Ser6622Asn)
|
rs144168709
|
0.00011
|
|
NM_001164508.2(NEB):c.19966C>T (p.Arg6656Cys)
|
rs527250558
|
0.00011
|
|
NM_001164508.2(NEB):c.23927C>T (p.Ser7976Leu)
|
rs202137113
|
0.00011
|
|
NM_001164508.2(NEB):c.24757A>G (p.Ile8253Val)
|
rs551649582
|
0.00011
|
|
NM_001164508.2(NEB):c.2773A>G (p.Ser925Gly)
|
rs928041091
|
0.00011
|
|
NM_001164508.2(NEB):c.6175G>A (p.Ala2059Thr)
|
rs369215974
|
0.00011
|
|
NM_001165963.4(SCN1A):c.1680T>C (p.Arg560=)
|
rs145662732
|
0.00011
|
|
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln)
|
rs544692790
|
0.00011
|
|
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp)
|
rs148442069
|
0.00011
|
|
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu)
|
rs201905405
|
0.00011
|
|
NM_001166114.2(PNPLA6):c.2939G>C (p.Gly980Ala)
|
rs201902695
|
0.00011
|
|
NM_001166114.2(PNPLA6):c.4077C>T (p.Pro1359=)
|
rs143060121
|
0.00011
|
|
NM_001182.5(ALDH7A1):c.1263G>A (p.Ala421=)
|
rs587780850
|
0.00011
|
|
NM_001184.4(ATR):c.3582-3T>C
|
rs371344698
|
0.00011
|
|
NM_001184880.2(PCDH19):c.2965A>C (p.Asn989His)
|
rs201611496
|
0.00011
|
|
NM_001191061.2(SLC25A22):c.834C>T (p.His278=)
|
rs187824231
|
0.00011
|
|
NM_001195248.2(APTX):c.762G>A (p.Pro254=)
|
rs571475924
|
0.00011
|
|
NM_001199107.2(TBC1D24):c.1620C>T (p.Ser540=)
|
rs781723084
|
0.00011
|
|
NM_001199397.3(NEK1):c.912T>C (p.Pro304=)
|
rs139433990
|
0.00011
|
|
NM_001211.6(BUB1B):c.1261C>T (p.Arg421Trp)
|
rs201251790
|
0.00011
|
|
NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr)
|
rs201112096
|
0.00011
|
|
NM_001267550.2(TTN):c.102737G>A (p.Arg34246His)
|
rs372716177
|
0.00011
|
|
NM_001267550.2(TTN):c.105940G>A (p.Ala35314Thr)
|
rs377171054
|
0.00011
|
|
NM_001267550.2(TTN):c.106121T>A (p.Phe35374Tyr)
|
rs727504609
|
0.00011
|
|
NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg)
|
rs200716018
|
0.00011
|
|
NM_001267550.2(TTN):c.1213G>A (p.Ala405Thr)
|
rs112266780
|
0.00011
|
|
NM_001267550.2(TTN):c.12412A>G (p.Ile4138Val)
|
rs377290301
|
0.00011
|
|
NM_001267550.2(TTN):c.1449C>T (p.Ala483=)
|
rs141617218
|
0.00011
|
|
NM_001267550.2(TTN):c.16121G>A (p.Cys5374Tyr)
|
rs375577529
|
0.00011
|
|
NM_001267550.2(TTN):c.16551G>A (p.Ser5517=)
|
rs376037792
|
0.00011
|
|
NM_001267550.2(TTN):c.16716A>G (p.Pro5572=)
|
rs367821526
|
0.00011
|
|
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly)
|
rs370812788
|
0.00011
|
|
NM_001267550.2(TTN):c.19715-4A>G
|
rs375009631
|
0.00011
|
|
NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp)
|
rs397517500
|
0.00011
|
|
NM_001267550.2(TTN):c.227G>C (p.Gly76Ala)
|
rs138750421
|
0.00011
|
|
NM_001267550.2(TTN):c.25660A>G (p.Lys8554Glu)
|
rs201945791
|
0.00011
|
|
NM_001267550.2(TTN):c.28681G>A (p.Ala9561Thr)
|
rs373380202
|
0.00011
|
|
NM_001267550.2(TTN):c.35037G>A (p.Pro11679=)
|
rs369095270
|
0.00011
|
|
NM_001267550.2(TTN):c.40796C>T (p.Thr13599Ile)
|
rs370418677
|
0.00011
|
|
NM_001267550.2(TTN):c.4261C>T (p.Arg1421Trp)
|
rs144672482
|
0.00011
|
|
NM_001267550.2(TTN):c.45247C>T (p.Arg15083Trp)
|
rs199834143
|
0.00011
|
|
NM_001267550.2(TTN):c.45617-13C>T
|
rs570853409
|
0.00011
|
|
NM_001267550.2(TTN):c.48353A>G (p.Asp16118Gly)
|
rs376273101
|
0.00011
|
|
NM_001267550.2(TTN):c.50858-3C>T
|
rs587782987
|
0.00011
|
|
NM_001267550.2(TTN):c.51437-9G>A
|
rs183060991
|
0.00011
|
|
NM_001267550.2(TTN):c.51712C>T (p.Pro17238Ser)
|
rs773035917
|
0.00011
|
|
NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val)
|
rs377571654
|
0.00011
|
|
NM_001267550.2(TTN):c.57073G>A (p.Val19025Ile)
|
rs181957743
|
0.00011
|
|
NM_001267550.2(TTN):c.59248G>A (p.Gly19750Ser)
|
rs200732032
|
0.00011
|
|
NM_001267550.2(TTN):c.62507G>A (p.Arg20836Gln)
|
rs201693851
|
0.00011
|
|
NM_001267550.2(TTN):c.65746C>T (p.Arg21916Trp)
|
rs200155485
|
0.00011
|
|
NM_001267550.2(TTN):c.66051G>A (p.Val22017=)
|
rs587780981
|
0.00011
|
|
NM_001267550.2(TTN):c.66703G>A (p.Val22235Ile)
|
rs751354601
|
0.00011
|
|
NM_001267550.2(TTN):c.66844T>C (p.Tyr22282His)
|
rs745992545
|
0.00011
|
|
NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys)
|
rs374492812
|
0.00011
|
|
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=)
|
rs72646889
|
0.00011
|
|
NM_001267550.2(TTN):c.71155A>G (p.Ile23719Val)
|
rs201818722
|
0.00011
|
|
NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile)
|
rs377334665
|
0.00011
|
|
NM_001267550.2(TTN):c.7339G>A (p.Val2447Met)
|
rs779064962
|
0.00011
|
|
NM_001267550.2(TTN):c.73770T>C (p.Tyr24590=)
|
rs201380749
|
0.00011
|
|
NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val)
|
rs201095164
|
0.00011
|
|
NM_001267550.2(TTN):c.80553C>T (p.Phe26851=)
|
rs189790119
|
0.00011
|
|
NM_001267550.2(TTN):c.80554C>T (p.Arg26852Cys)
|
rs185887755
|
0.00011
|
|
NM_001267550.2(TTN):c.81856G>A (p.Val27286Ile)
|
rs372784067
|
0.00011
|
|
NM_001267550.2(TTN):c.86911G>A (p.Gly28971Arg)
|
rs368921501
|
0.00011
|
|
NM_001267550.2(TTN):c.88123C>T (p.Arg29375Cys)
|
rs368439674
|
0.00011
|
|
NM_001267550.2(TTN):c.88496T>G (p.Leu29499Arg)
|
rs72648234
|
0.00011
|
|
NM_001267550.2(TTN):c.90181G>A (p.Val30061Ile)
|
rs138958733
|
0.00011
|
|
NM_001267550.2(TTN):c.91434A>C (p.Glu30478Asp)
|
rs373900294
|
0.00011
|
|
NM_001267550.2(TTN):c.92677A>G (p.Lys30893Glu)
|
rs370541682
|
0.00011
|
|
NM_001267550.2(TTN):c.93214C>T (p.Arg31072Cys)
|
rs368932767
|
0.00011
|
|
NM_001267550.2(TTN):c.93255G>A (p.Pro31085=)
|
rs372611171
|
0.00011
|
|
NM_001267550.2(TTN):c.94593G>A (p.Ala31531=)
|
rs373301015
|
0.00011
|
|
NM_001267550.2(TTN):c.94980A>G (p.Glu31660=)
|
rs370769662
|
0.00011
|
|
NM_001267550.2(TTN):c.9811T>G (p.Ser3271Ala)
|
rs556720151
|
0.00011
|
|
NM_001267550.2(TTN):c.98556T>C (p.Gly32852=)
|
rs373853269
|
0.00011
|
|
NM_001267550.2(TTN):c.98605C>T (p.Arg32869Cys)
|
rs186244950
|
0.00011
|
|
NM_001267550.2(TTN):c.98809A>G (p.Lys32937Glu)
|
rs200544701
|
0.00011
|
|
NM_001267550.2(TTN):c.99946G>A (p.Ala33316Thr)
|
rs374295768
|
0.00011
|
|
NM_001267550.2(TTN):c.99982G>A (p.Val33328Met)
|
rs372302484
|
0.00011
|
|
NM_001267727.2(ARSG):c.1092C>T (p.Ser364=)
|
rs199774302
|
0.00011
|
|
NM_001271.4(CHD2):c.5033G>A (p.Arg1678Gln)
|
rs201628571
|
0.00011
|
|
NM_001277115.2(DNAH11):c.10569-15C>T
|
rs371205337
|
0.00011
|
|
NM_001283009.2(RTEL1):c.2987C>A (p.Pro996His)
|
rs373210484
|
0.00011
|
|
NM_001286.5(CLCN6):c.1372+3G>A
|
rs573846885
|
0.00011
|
|
NM_001287.6(CLCN7):c.1137C>T (p.Ile379=)
|
rs749315456
|
0.00011
|
|
NM_001291303.3(FAT4):c.12716T>C (p.Met4239Thr)
|
rs137954725
|
0.00011
|
|
NM_001291303.3(FAT4):c.6050T>C (p.Val2017Ala)
|
rs188126059
|
0.00011
|
|
NM_001292063.2(OTOG):c.3178C>T (p.His1060Tyr)
|
rs187751015
|
0.00011
|
|
NM_001330078.2(NRXN1):c.3489C>T (p.Ala1163=)
|
rs147580960
|
0.00011
|
|
NM_001330078.2(NRXN1):c.772+1040A>T
|
rs201741449
|
0.00011
|
|
NM_001330260.2(SCN8A):c.5761A>C (p.Thr1921Pro)
|
rs368796221
|
0.00011
|
|
NM_001332.4(CTNND2):c.593C>T (p.Thr198Met)
|
rs141302945
|
0.00011
|
|
NM_001347702.2(SYNE1):c.1464T>G (p.Pro488=)
|
rs770649913
|
0.00011
|
|
NM_001349253.2(SCN11A):c.1744G>A (p.Ala582Thr)
|
rs141228634
|
0.00011
|
|
NM_001351132.2(PEX5):c.258C>T (p.Asp86=)
|
rs144351488
|
0.00011
|
|
NM_001352514.2(HLCS):c.2416G>A (p.Val806Ile)
|
rs368124997
|
0.00011
|
|
NM_001352514.2(HLCS):c.951C>T (p.Ser317=)
|
rs185480832
|
0.00011
|
|
NM_001353214.3(DYM):c.1924T>C (p.Phe642Leu)
|
rs151034190
|
0.00011
|
|
NM_001355436.2(SPTB):c.4105A>G (p.Lys1369Glu)
|
rs760803657
|
0.00011
|
|
NM_001355436.2(SPTB):c.4511C>T (p.Ala1504Val)
|
rs200876438
|
0.00011
|
|
NM_001358530.2(MOCS1):c.583+12T>C
|
rs199797027
|
0.00011
|
|
NM_001360.3(DHCR7):c.765C>T (p.Phe255=)
|
rs200132007
|
0.00011
|
|
NM_001363.5(DKC1):c.41A>G (p.Lys14Arg)
|
rs376632263
|
0.00011
|
|
NM_001364171.2(ODAD1):c.626G>A (p.Ser209Asn)
|
rs367799104
|
0.00011
|
|
NM_001365276.2(TNXB):c.12210+5G>A
|
rs4959085
|
0.00011
|
|
NM_001365276.2(TNXB):c.2730G>A (p.Ala910=)
|
rs564894886
|
0.00011
|
|
NM_001365999.1(SZT2):c.5772G>T (p.Leu1924=)
|
rs187188981
|
0.00011
|
|
NM_001367479.1(DNAH14):c.9698C>T (p.Ala3233Val)
|
rs745928222
|
0.00011
|
|
NM_001367624.2(ZNF469):c.2693C>T (p.Pro898Leu)
|
rs754458926
|
0.00011
|
|
NM_001367624.2(ZNF469):c.2812G>A (p.Ala938Thr)
|
rs760409743
|
0.00011
|
|
NM_001367624.2(ZNF469):c.7817A>C (p.Gln2606Pro)
|
rs529250336
|
0.00011
|
|
NM_001367624.2(ZNF469):c.9080G>A (p.Arg3027His)
|
rs566978194
|
0.00011
|
|
NM_001369.3(DNAH5):c.10084T>A (p.Phe3362Ile)
|
rs373406041
|
0.00011
|
|
NM_001369.3(DNAH5):c.10731C>G (p.Asn3577Lys)
|
rs376292253
|
0.00011
|
|
NM_001369.3(DNAH5):c.11376C>T (p.Ala3792=)
|
rs755149967
|
0.00011
|
|
NM_001369.3(DNAH5):c.3733C>T (p.Arg1245Cys)
|
rs149609746
|
0.00011
|
|
NM_001369.3(DNAH5):c.5692G>A (p.Asp1898Asn)
|
rs149834171
|
0.00011
|
|
NM_001370466.1(NOD2):c.2087C>T (p.Pro696Leu)
|
rs201076024
|
0.00011
|
|
NM_001370466.1(NOD2):c.2382-9T>A
|
rs201759367
|
0.00011
|
|
NM_001371623.1(TCOF1):c.3785G>T (p.Gly1262Val)
|
rs375337164
|
0.00011
|
|
NM_001371928.1(AHDC1):c.2438G>A (p.Arg813His)
|
rs138299564
|
0.00011
|
|
NM_001375524.1(TRRAP):c.11191G>A (p.Ala3731Thr)
|
rs199541716
|
0.00011
|
|
NM_001375808.2(LPIN2):c.1169-3C>T
|
rs200259086
|
0.00011
|
|
NM_001376.5(DYNC1H1):c.9324A>G (p.Glu3108=)
|
rs142338762
|
0.00011
|
|
NM_001377.3(DYNC2H1):c.291T>A (p.Val97=)
|
rs377529350
|
0.00011
|
|
NM_001377.3(DYNC2H1):c.6139+7C>T
|
rs200749262
|
0.00011
|
|
NM_001377265.1(MAPT):c.1567C>T (p.Arg523Ter)
|
rs200099007
|
0.00011
|
|
NM_001378120.1(MBD5):c.2279A>G (p.His760Arg)
|
rs763275881
|
0.00011
|
|
NM_001378452.1(ITPR1):c.3457A>G (p.Met1153Val)
|
rs199698357
|
0.00011
|
|
NM_001378454.1(ALMS1):c.4886G>A (p.Arg1629Gln)
|
rs142917664
|
0.00011
|
|
NM_001378609.3(OTOGL):c.100A>G (p.Ile34Val)
|
rs117411391
|
0.00011
|
|
NM_001378615.1(CC2D2A):c.2163G>A (p.Pro721=)
|
rs768337150
|
0.00011
|
|
NM_001378615.1(CC2D2A):c.332C>T (p.Ala111Val)
|
rs137878385
|
0.00011
|
|
NM_001378615.1(CC2D2A):c.603C>T (p.Pro201=)
|
rs556542553
|
0.00011
|
|
NM_001378615.1(CC2D2A):c.717+11T>C
|
rs184351317
|
0.00011
|
|
NM_001379081.2(FREM1):c.5155G>A (p.Val1719Met)
|
rs201617511
|
0.00011
|
|
NM_001386298.1(CIC):c.572G>A (p.Gly191Asp)
|
rs564911507
|
0.00011
|
|
NM_001386393.1(PANK2):c.53G>A (p.Arg18Gln)
|
rs546381069
|
0.00011
|
|
NM_001387430.1(SH2B1):c.808C>T (p.Arg270Trp)
|
rs561413284
|
0.00011
|
|
NM_001395413.1(POR):c.1755C>T (p.Asp585=)
|
rs72557949
|
0.00011
|
|
NM_001457.4(FLNB):c.2071C>T (p.Arg691Cys)
|
rs776421446
|
0.00011
|
|
NM_001457.4(FLNB):c.2104G>A (p.Gly702Ser)
|
rs374090457
|
0.00011
|
|
NM_001457.4(FLNB):c.3753T>C (p.Phe1251=)
|
rs751650356
|
0.00011
|
|
NM_001457.4(FLNB):c.762G>A (p.Pro254=)
|
rs371715057
|
0.00011
|
|
NM_001458.5(FLNC):c.3853G>A (p.Gly1285Ser)
|
rs200928780
|
0.00011
|
|
NM_001458.5(FLNC):c.5500C>T (p.His1834Tyr)
|
rs377141822
|
0.00011
|
|
NM_001540.5(HSPB1):c.16G>A (p.Val6Ile)
|
rs1049324
|
0.00011
|
|
NM_001609.4(ACADSB):c.960A>T (p.Ile320=)
|
rs147531541
|
0.00011
|
|
NM_001735.3(C5):c.2420C>T (p.Thr807Ile)
|
rs372326645
|
0.00011
|
|
NM_001807.6(CEL):c.358G>A (p.Val120Ile)
|
rs201336247
|
0.00011
|
|
NM_001848.3(COL6A1):c.2418C>T (p.Thr806=)
|
rs760768642
|
0.00011
|
|
NM_001848.3(COL6A1):c.726C>T (p.Asn242=)
|
rs142102852
|
0.00011
|
|
NM_001849.4(COL6A2):c.1720G>C (p.Val574Leu)
|
rs142021066
|
0.00011
|
|
NM_001849.4(COL6A2):c.2841C>T (p.Leu947=)
|
rs532522222
|
0.00011
|
|
NM_001849.4(COL6A2):c.2922G>A (p.Leu974=)
|
rs556385546
|
0.00011
|
|
NM_001851.6(COL9A1):c.1665+5G>T
|
rs369698214
|
0.00011
|
|
NM_001853.4(COL9A3):c.245C>T (p.Pro82Leu)
|
rs199653123
|
0.00011
|
|
NM_001854.4(COL11A1):c.2020C>T (p.Pro674Ser)
|
rs201849355
|
0.00011
|
|
NM_001927.4(DES):c.665G>A (p.Arg222His)
|
rs367961979
|
0.00011
|
|
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser)
|
rs375679311
|
0.00011
|
|
NM_001943.5(DSG2):c.2360A>G (p.Asp787Gly)
|
rs369868954
|
0.00011
|
|
NM_001943.5(DSG2):c.2506C>G (p.Leu836Val)
|
rs767979763
|
0.00011
|
|
NM_001953.5(TYMP):c.437G>A (p.Arg146His)
|
rs188802138
|
0.00011
|
|
NM_001961.4(EEF2):c.811G>A (p.Gly271Ser)
|
rs200480185
|
0.00011
|
|
NM_001966.4(EHHADH):c.1563G>A (p.Val521=)
|
rs138858065
|
0.00011
|
|
NM_001966.4(EHHADH):c.621C>G (p.Pro207=)
|
rs139788883
|
0.00011
|
|
NM_001972.4(ELANE):c.472C>G (p.Leu158Val)
|
rs535990034
|
0.00011
|
|
NM_001987.5(ETV6):c.741G>A (p.Ala247=)
|
rs571926464
|
0.00011
|
|
NM_002047.4(GARS1):c.236G>A (p.Arg79Gln)
|
rs369466037
|
0.00011
|
|
NM_002076.4(GNS):c.577C>T (p.Arg193Trp)
|
rs144220755
|
0.00011
|
|
NM_002180.3(IGHMBP2):c.103A>G (p.Ile35Val)
|
rs199586231
|
0.00011
|
|
NM_002253.4(KDR):c.2012G>A (p.Gly671Glu)
|
rs149740758
|
0.00011
|
|
NM_002435.3(MPI):c.378G>A (p.Pro126=)
|
rs752948071
|
0.00011
|
|
NM_002471.4(MYH6):c.1410C>T (p.Asp470=)
|
rs139886074
|
0.00011
|
|
NM_002471.4(MYH6):c.2929-3C>T
|
rs376752266
|
0.00011
|
|
NM_002473.6(MYH9):c.4247C>T (p.Thr1416Met)
|
rs758626716
|
0.00011
|
|
NM_002474.3(MYH11):c.3562C>T (p.Arg1188Trp)
|
rs146388001
|
0.00011
|
|
NM_002474.3(MYH11):c.4095C>T (p.His1365=)
|
rs374454281
|
0.00011
|
|
NM_002485.5(NBN):c.1035C>T (p.Gly345=)
|
rs146605798
|
0.00011
|
|
NM_002485.5(NBN):c.1036G>A (p.Val346Met)
|
rs200297914
|
0.00011
|
|
NM_002485.5(NBN):c.1914+10G>A
|
rs577706448
|
0.00011
|
|
NM_002485.5(NBN):c.37+10G>C
|
rs369408590
|
0.00011
|
|
NM_002485.5(NBN):c.505C>T (p.Arg169Cys)
|
rs182756889
|
0.00011
|
|
NM_002506.3(NGF):c.191C>T (p.Ala64Val)
|
rs201087374
|
0.00011
|
|
NM_002528.7(NTHL1):c.526-11_526-10del
|
rs764393572
|
0.00011
|
|
NM_002529.4(NTRK1):c.279G>A (p.Leu93=)
|
rs147983523
|
0.00011
|
|
NM_002617.4(PEX10):c.268C>T (p.Leu90=)
|
rs775772867
|
0.00011
|
|
NM_002617.4(PEX10):c.915G>A (p.Ala305=)
|
rs374891812
|
0.00011
|
|
NM_002633.3(PGM1):c.1028+11C>A
|
rs541069522
|
0.00011
|
|
NM_002691.4(POLD1):c.521G>A (p.Arg174Gln)
|
rs141976385
|
0.00011
|
|
NM_002693.3(POLG):c.1066C>T (p.Leu356=)
|
rs371431444
|
0.00011
|
|
NM_002693.3(POLG):c.87C>T (p.Ser29=)
|
rs587781116
|
0.00011
|
|
NM_003002.4(SDHD):c.53C>T (p.Ala18Val)
|
rs192332761
|
0.00011
|
|
NM_003036.4(SKI):c.1309G>A (p.Ala437Thr)
|
rs544709718
|
0.00011
|
|
NM_003060.4(SLC22A5):c.952-14T>C
|
rs373018486
|
0.00011
|
|
NM_003119.4(SPG7):c.2274C>T (p.Ile758=)
|
rs147302322
|
0.00011
|
|
NM_003200.5(TCF3):c.1549G>C (p.Glu517Gln)
|
rs368238041
|
0.00011
|
|
NM_003480.4(MFAP5):c.296G>A (p.Arg99Gln)
|
rs756494536
|
0.00011
|
|
NM_003482.4(KMT2D):c.11278G>A (p.Gly3760Ser)
|
rs373071174
|
0.00011
|
|
NM_003482.4(KMT2D):c.14643+3A>T
|
rs374232950
|
0.00011
|
|
NM_003482.4(KMT2D):c.1490C>T (p.Pro497Leu)
|
rs371421459
|
0.00011
|
|
NM_003482.4(KMT2D):c.15694A>G (p.Ile5232Val)
|
rs199593058
|
0.00011
|
|
NM_003482.4(KMT2D):c.2547G>A (p.Ser849=)
|
rs398123738
|
0.00011
|
|
NM_003482.4(KMT2D):c.5084-17A>G
|
rs368795536
|
0.00011
|
|
NM_003482.4(KMT2D):c.9482T>C (p.Met3161Thr)
|
rs199831827
|
0.00011
|
|
NM_003611.3(OFD1):c.936-2A>G
|
rs199902986
|
0.00011
|
|
NM_003640.5(ELP1):c.1704A>G (p.Ser568=)
|
rs138192941
|
0.00011
|
|
NM_003721.4(RFXANK):c.529C>G (p.Leu177Val)
|
rs151053440
|
0.00011
|
|
NM_003737.4(DCHS1):c.6180G>A (p.Gly2060=)
|
rs145160213
|
0.00011
|
|
NM_003738.5(PTCH2):c.3071C>T (p.Ala1024Val)
|
rs147567317
|
0.00011
|
|
NM_003742.4(ABCB11):c.235G>A (p.Val79Met)
|
rs371965391
|
0.00011
|
|
NM_003742.4(ABCB11):c.3411+9C>T
|
rs201287126
|
0.00011
|
|
NM_003982.4(SLC7A7):c.475C>T (p.Arg159Cys)
|
rs11568437
|
0.00011
|
|
NM_003982.4(SLC7A7):c.549A>C (p.Val183=)
|
rs146945921
|
0.00011
|
|
NM_004006.3(DMD):c.2183T>C (p.Ile728Thr)
|
rs192004962
|
0.00011
|
|
NM_004006.3(DMD):c.295A>G (p.Ile99Val)
|
rs149428656
|
0.00011
|
|
NM_004055.5(CAPN5):c.247T>C (p.Phe83Leu)
|
rs148784108
|
0.00011
|
|
NM_004187.5(KDM5C):c.4611G>A (p.Ser1537=)
|
rs149733911
|
0.00011
|
|
NM_004273.5(CHST3):c.423G>A (p.Thr141=)
|
rs376107245
|
0.00011
|
|
NM_004281.4(BAG3):c.415C>T (p.Arg139Trp)
|
rs556465096
|
0.00011
|
|
NM_004320.6(ATP2A1):c.1207C>T (p.Arg403Trp)
|
rs117350233
|
0.00011
|
|
NM_004329.3(BMPR1A):c.98C>G (p.Thr33Ser)
|
rs142454490
|
0.00011
|
|
NM_004360.5(CDH1):c.*8G>A
|
rs201223411
|
0.00011
|
|
NM_004360.5(CDH1):c.1223C>T (p.Ala408Val)
|
rs138135866
|
0.00011
|
|
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly)
|
rs121964872
|
0.00011
|
|
NM_004369.4(COL6A3):c.6798C>T (p.Thr2266=)
|
rs116541926
|
0.00011
|
|
NM_004369.4(COL6A3):c.843G>T (p.Val281=)
|
rs376201065
|
0.00011
|
|
NM_004369.4(COL6A3):c.9147C>T (p.Leu3049=)
|
rs183247300
|
0.00011
|
|
NM_004370.6(COL12A1):c.292G>A (p.Asp98Asn)
|
rs558571598
|
0.00011
|
|
NM_004370.6(COL12A1):c.3652G>A (p.Val1218Met)
|
rs201749138
|
0.00011
|
|
NM_004415.4(DSP):c.1483G>A (p.Val495Met)
|
rs372014020
|
0.00011
|
|
NM_004415.4(DSP):c.3646A>G (p.Ile1216Val)
|
rs199795359
|
0.00011
|
|
NM_004415.4(DSP):c.5744G>A (p.Arg1915His)
|
rs146617683
|
0.00011
|
|
NM_004415.4(DSP):c.8173C>T (p.Arg2725Cys)
|
rs141078292
|
0.00011
|
|
NM_004525.3(LRP2):c.5370A>G (p.Gln1790=)
|
rs201155152
|
0.00011
|
|
NM_004525.3(LRP2):c.5553C>T (p.His1851=)
|
rs369998522
|
0.00011
|
|
NM_004525.3(LRP2):c.8169C>T (p.Asn2723=)
|
rs200369596
|
0.00011
|
|
NM_004553.6(NDUFS6):c.31C>G (p.Leu11Val)
|
rs755222875
|
0.00011
|
|
NM_004560.4(ROR2):c.1930G>A (p.Asp644Asn)
|
rs55798732
|
0.00011
|
|
NM_004562.3(PRKN):c.1372A>C (p.Met458Leu)
|
rs182893847
|
0.00011
|
|
NM_004621.6(TRPC6):c.2770C>T (p.Pro924Ser)
|
rs139330011
|
0.00011
|
|
NM_004625.4(WNT7A):c.470G>A (p.Arg157His)
|
rs199592697
|
0.00011
|
|
NM_004643.4(PABPN1):c.787C>A (p.Arg263=)
|
rs886044639
|
0.00011
|
|
NM_004646.4(NPHS1):c.1486C>A (p.Arg496Ser)
|
rs373264146
|
0.00011
|
|
NM_004655.4(AXIN2):c.1882C>T (p.Arg628Trp)
|
rs200201811
|
0.00011
|
|
NM_004656.4(BAP1):c.1212C>G (p.Asp404Glu)
|
rs140998455
|
0.00011
|
|
NM_004700.4(KCNQ4):c.546C>G (p.Phe182Leu)
|
rs80358273
|
0.00011
|
|
NM_004793.4(LONP1):c.788C>T (p.Thr263Ile)
|
rs139791767
|
0.00011
|
|
NM_004817.4(TJP2):c.1506T>C (p.Asp502=)
|
rs139354927
|
0.00011
|
|
NM_004817.4(TJP2):c.2270C>T (p.Thr757Ile)
|
rs189443180
|
0.00011
|
|
NM_004839.4(HOMER2):c.89A>G (p.Gln30Arg)
|
rs189123186
|
0.00011
|
|
NM_004977.3(KCNC3):c.1991A>G (p.Asn664Ser)
|
rs199833067
|
0.00011
|
|
NM_004977.3(KCNC3):c.23C>G (p.Ser8Trp)
|
rs761806977
|
0.00011
|
|
NM_005045.4(RELN):c.1336G>C (p.Glu446Gln)
|
rs56146903
|
0.00011
|
|
NM_005045.4(RELN):c.6193G>A (p.Val2065Ile)
|
rs201627577
|
0.00011
|
|
NM_005142.3(CBLIF):c.256+10C>T
|
rs369960390
|
0.00011
|
|
NM_005188.4(CBL):c.2359C>T (p.Arg787Cys)
|
rs143132980
|
0.00011
|
|
NM_005188.4(CBL):c.2360G>A (p.Arg787His)
|
rs200220863
|
0.00011
|
|
NM_005235.3(ERBB4):c.3446G>T (p.Gly1149Val)
|
rs770938636
|
0.00011
|
|
NM_005359.6(SMAD4):c.466A>T (p.Met156Leu)
|
rs534355764
|
0.00011
|
|
NM_005360.5(MAF):c.460G>A (p.Gly154Ser)
|
rs1022938471
|
0.00011
|
|
NM_005379.4(MYO1A):c.1961G>A (p.Arg654Gln)
|
rs147147276
|
0.00011
|
|
NM_005379.4(MYO1A):c.92G>A (p.Arg31His)
|
rs727504447
|
0.00011
|
|
NM_005422.4(TECTA):c.4824C>T (p.Ile1608=)
|
rs747713348
|
0.00011
|
|
NM_005422.4(TECTA):c.915C>T (p.Cys305=)
|
rs367974065
|
0.00011
|
|
NM_005477.3(HCN4):c.2522C>T (p.Ser841Leu)
|
rs200546024
|
0.00011
|
|
NM_005477.3(HCN4):c.3117G>A (p.Pro1039=)
|
rs749785521
|
0.00011
|
|
NM_005477.3(HCN4):c.584C>T (p.Ala195Val)
|
rs201375192
|
0.00011
|
|
NM_005502.4(ABCA1):c.1716G>A (p.Gly572=)
|
rs143299210
|
0.00011
|
|
NM_005506.4(SCARB2):c.1210A>G (p.Met404Val)
|
rs147142116
|
0.00011
|
|
NM_005529.7(HSPG2):c.2766C>G (p.Leu922=)
|
rs375290305
|
0.00011
|
|
NM_005529.7(HSPG2):c.5628A>G (p.Thr1876=)
|
rs368047383
|
0.00011
|
|
NM_005535.3(IL12RB1):c.1190-13C>T
|
rs371881148
|
0.00011
|
|
NM_005535.3(IL12RB1):c.1269C>T (p.His423=)
|
rs367647802
|
0.00011
|
|
NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu)
|
rs868950793
|
0.00011
|
|
NM_005751.5(AKAP9):c.610G>A (p.Asp204Asn)
|
rs148920964
|
0.00011
|
|
NM_005912.3(MC4R):c.972C>T (p.Gly324=)
|
rs150448918
|
0.00011
|
|
NM_005993.5(TBCD):c.1254G>A (p.Gly418=)
|
rs367985432
|
0.00011
|
|
NM_006031.6(PCNT):c.4078C>T (p.Arg1360Cys)
|
rs202221024
|
0.00011
|
|
NM_006031.6(PCNT):c.4775T>G (p.Val1592Gly)
|
rs141276542
|
0.00011
|
|
NM_006031.6(PCNT):c.8930C>T (p.Ala2977Val)
|
rs146657011
|
0.00011
|
|
NM_006031.6(PCNT):c.9332G>A (p.Arg3111His)
|
rs140416280
|
0.00011
|
|
NM_006186.4(NR4A2):c.289A>G (p.Met97Val)
|
rs143618355
|
0.00011
|
|
NM_006231.4(POLE):c.3670G>T (p.Ala1224Ser)
|
rs369338222
|
0.00011
|
|
NM_006231.4(POLE):c.3671C>T (p.Ala1224Val)
|
rs375208564
|
0.00011
|
|
NM_006231.4(POLE):c.3763T>C (p.Leu1255=)
|
rs745838504
|
0.00011
|
|
NM_006231.4(POLE):c.4169G>A (p.Arg1390His)
|
rs200776293
|
0.00011
|
|
NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser)
|
rs138564205
|
0.00011
|
|
NM_006231.4(POLE):c.4660G>A (p.Glu1554Lys)
|
rs143247306
|
0.00011
|
|
NM_006231.4(POLE):c.6658-7C>A
|
rs531482240
|
0.00011
|
|
NM_006231.4(POLE):c.940T>G (p.Ser314Ala)
|
rs770403791
|
0.00011
|
|
NM_006254.4(PRKCD):c.1260+7G>A
|
rs374605708
|
0.00011
|
|
NM_006397.3(RNASEH2A):c.199+8C>G
|
rs200834484
|
0.00011
|
|
NM_006397.3(RNASEH2A):c.36C>T (p.Gly12=)
|
rs375139492
|
0.00011
|
|
NM_006445.4(PRPF8):c.2235C>G (p.Ala745=)
|
rs727504109
|
0.00011
|
|
NM_006493.4(CLN5):c.1026A>G (p.Thr342=)
|
rs200637649
|
0.00011
|
|
NM_006514.4(SCN10A):c.599C>T (p.Ala200Val)
|
rs554062977
|
0.00011
|
|
NM_006612.6(KIF1C):c.3272G>A (p.Arg1091His)
|
rs201800868
|
0.00011
|
|
NM_006772.3(SYNGAP1):c.1455C>T (p.Arg485=)
|
rs201107225
|
0.00011
|
|
NM_006785.4(MALT1):c.1282G>A (p.Val428Ile)
|
rs140664950
|
0.00011
|
|
NM_006790.3(MYOT):c.533G>A (p.Arg178His)
|
rs150293853
|
0.00011
|
|
NM_006790.3(MYOT):c.594G>A (p.Val198=)
|
rs372287923
|
0.00011
|
|
NM_006941.4(SOX10):c.1093G>C (p.Gly365Arg)
|
rs748755187
|
0.00011
|
|
NM_006946.4(SPTBN2):c.3431G>A (p.Arg1144Gln)
|
rs558572111
|
0.00011
|
|
NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His)
|
rs145522851
|
0.00011
|
|
NM_007078.3(LDB3):c.794G>A (p.Arg265His)
|
rs45458895
|
0.00011
|
|
NM_007137.5(ZNF81):c.1264G>A (p.Ala422Thr)
|
rs200890712
|
0.00011
|
|
NM_007254.4(PNKP):c.579-4G>A
|
rs371834726
|
0.00011
|
|
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe)
|
rs80357250
|
0.00011
|
|
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys)
|
rs41286300
|
0.00011
|
|
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val)
|
rs80357280
|
0.00011
|
|
NM_007294.4(BRCA1):c.4934G>C (p.Arg1645Thr)
|
rs70953661
|
0.00011
|
|
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala)
|
rs56195342
|
0.00011
|
|
NM_007294.4(BRCA1):c.693G>A (p.Thr231=)
|
rs62625298
|
0.00011
|
|
NM_007294.4(BRCA1):c.694G>A (p.Asp232Asn)
|
rs55975699
|
0.00011
|
|
NM_007317.3(KIF22):c.549+8C>A
|
rs374331057
|
0.00011
|
|
NM_012092.4(ICOS):c.597A>G (p.Leu199=)
|
rs145698501
|
0.00011
|
|
NM_012210.4(TRIM32):c.330A>G (p.Gln110=)
|
rs770015462
|
0.00011
|
|
NM_012210.4(TRIM32):c.409C>T (p.Pro137Ser)
|
rs200997003
|
0.00011
|
|
NM_012213.3(MLYCD):c.1335C>T (p.Thr445=)
|
rs373675093
|
0.00011
|
|
NM_012213.3(MLYCD):c.741G>T (p.Gly247=)
|
rs376948469
|
0.00011
|
|
NM_012293.3(PXDN):c.1495C>G (p.Gln499Glu)
|
rs185623598
|
0.00011
|
|
NM_012330.4(KAT6B):c.4510G>A (p.Glu1504Lys)
|
rs200393557
|
0.00011
|
|
NM_012431.3(SEMA3E):c.1738G>A (p.Asp580Asn)
|
rs201699077
|
0.00011
|
|
NM_012452.3(TNFRSF13B):c.126T>C (p.Pro42=)
|
rs377551435
|
0.00011
|
|
NM_013266.4(CTNNA3):c.1231A>G (p.Ile411Val)
|
rs372808360
|
0.00011
|
|
NM_013266.4(CTNNA3):c.1303A>G (p.Met435Val)
|
rs377404952
|
0.00011
|
|
NM_013275.6(ANKRD11):c.3274C>T (p.Pro1092Ser)
|
rs773172347
|
0.00011
|
|
NM_013382.7(POMT2):c.1250A>G (p.Lys417Arg)
|
rs147268052
|
0.00011
|
|
NM_014244.5(ADAMTS2):c.3018C>T (p.Asp1006=)
|
rs150535792
|
0.00011
|
|
NM_014252.4(SLC25A15):c.216C>T (p.Ile72=)
|
rs572717478
|
0.00011
|
|
NM_014271.4(IL1RAPL1):c.651A>C (p.Glu217Asp)
|
rs775759727
|
0.00011
|
|
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn)
|
rs372359781
|
0.00011
|
|
NM_014363.6(SACS):c.2681C>T (p.Ser894Leu)
|
rs201857647
|
0.00011
|
|
NM_014363.6(SACS):c.5841C>T (p.Pro1947=)
|
rs145371235
|
0.00011
|
|
NM_014363.6(SACS):c.5903C>T (p.Ala1968Val)
|
rs201866523
|
0.00011
|
|
NM_014363.6(SACS):c.7288G>A (p.Glu2430Lys)
|
rs201798841
|
0.00011
|
|
NM_014365.3(HSPB8):c.503C>T (p.Ala168Val)
|
rs373049356
|
0.00011
|
|
NM_014467.3(SRPX2):c.893G>A (p.Arg298His)
|
rs369663551
|
0.00011
|
|
NM_014714.4(IFT140):c.2724C>T (p.Ala908=)
|
rs138166567
|
0.00011
|
|
NM_014714.4(IFT140):c.3874-10A>C
|
rs761503137
|
0.00011
|
|
NM_014844.5(TECPR2):c.3790-8G>A
|
rs772801372
|
0.00011
|
|
NM_014844.5(TECPR2):c.4161G>A (p.Ser1387=)
|
rs150885756
|
0.00011
|
|
NM_014844.5(TECPR2):c.846C>T (p.Cys282=)
|
rs201691545
|
0.00011
|
|
NM_014846.4(WASHC5):c.639G>C (p.Gln213His)
|
rs141234822
|
0.00011
|
|
NM_014915.3(ANKRD26):c.-117G>A
|
rs560384691
|
0.00011
|
|
NM_015338.6(ASXL1):c.3947G>A (p.Arg1316His)
|
rs369419785
|
0.00011
|
|
NM_015346.4(ZFYVE26):c.5321-3C>T
|
rs376234357
|
0.00011
|
|
NM_015375.3(DSTYK):c.1007A>G (p.Gln336Arg)
|
rs377628453
|
0.00011
|
|
NM_015375.3(DSTYK):c.1819-3C>T
|
rs367692056
|
0.00011
|
|
NM_015404.4(WHRN):c.2112G>T (p.Leu704=)
|
rs535492772
|
0.00011
|
|
NM_015404.4(WHRN):c.998G>A (p.Ser333Asn)
|
rs200073414
|
0.00011
|
|
NM_015474.4(SAMHD1):c.195G>T (p.Leu65=)
|
rs202024857
|
0.00011
|
|
NM_015474.4(SAMHD1):c.697-11A>G
|
rs200458478
|
0.00011
|
|
NM_015559.3(SETBP1):c.3956T>C (p.Met1319Thr)
|
rs372615623
|
0.00011
|
|
NM_015570.4(AUTS2):c.1247A>G (p.Gln416Arg)
|
rs143679158
|
0.00011
|
|
NM_016123.4(IRAK4):c.13A>G (p.Ile5Val)
|
rs56312115
|
0.00011
|
|
NM_016169.4(SUFU):c.1245C>T (p.Gly415=)
|
rs144158469
|
0.00011
|
|
NM_016239.4(MYO15A):c.6581G>A (p.Arg2194Gln)
|
rs375638438
|
0.00011
|
|
NM_016356.5(DCDC2):c.750T>G (p.Ser250=)
|
rs372157851
|
0.00011
|
|
NM_017534.6(MYH2):c.3615T>C (p.Ser1205=)
|
rs751186949
|
0.00011
|
|
NM_017617.5(NOTCH1):c.5273G>A (p.Arg1758His)
|
rs373841359
|
0.00011
|
|
NM_017617.5(NOTCH1):c.7400C>T (p.Ser2467Leu)
|
rs375025242
|
0.00011
|
|
NM_017739.4(POMGNT1):c.652+6G>A
|
rs369289384
|
0.00011
|
|
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln)
|
rs199910690
|
0.00011
|
|
NM_017777.4(MKS1):c.1609C>T (p.Arg537Cys)
|
rs35464956
|
0.00011
|
|
NM_017780.4(CHD7):c.2273G>A (p.Arg758His)
|
rs202208393
|
0.00011
|
|
NM_017827.4(SARS2):c.538G>A (p.Val180Ile)
|
rs552465576
|
0.00011
|
|
NM_017882.3(CLN6):c.585C>T (p.Gly195=)
|
rs144507672
|
0.00011
|
|
NM_018006.5(TRMU):c.910C>G (p.Leu304Val)
|
rs200777988
|
0.00011
|
|
NM_018122.5(DARS2):c.260A>G (p.Asp87Gly)
|
rs149598381
|
0.00011
|
|
NM_018136.5(ASPM):c.1185A>G (p.Gln395=)
|
rs183395856
|
0.00011
|
|
NM_018136.5(ASPM):c.5846A>G (p.His1949Arg)
|
rs186663906
|
0.00011
|
|
NM_018136.5(ASPM):c.9085-3T>C
|
rs201188381
|
0.00011
|
|
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg)
|
rs563858170
|
0.00011
|
|
NM_018196.4(TMLHE):c.248C>T (p.Ala83Val)
|
rs149189246
|
0.00011
|
|
NM_018451.5(CENPJ):c.3803G>A (p.Gly1268Asp)
|
rs151090294
|
0.00011
|
|
NM_018451.5(CENPJ):c.622A>G (p.Thr208Ala)
|
rs199925549
|
0.00011
|
|
NM_018699.4(PRDM5):c.544C>T (p.Leu182Phe)
|
rs199602365
|
0.00011
|
|
NM_018714.3(COG1):c.2511-5C>G
|
rs201123101
|
0.00011
|
|
NM_018714.3(COG1):c.315+8C>T
|
rs748732950
|
0.00011
|
|
NM_019096.5(GTPBP2):c.881-18G>A
|
rs377499258
|
0.00011
|
|
NM_020247.5(COQ8A):c.1698G>A (p.Leu566=)
|
rs543820987
|
0.00011
|
|
NM_020320.5(RARS2):c.1366C>T (p.Arg456Cys)
|
rs147844153
|
0.00011
|
|
NM_020366.4(RPGRIP1):c.658A>G (p.Met220Val)
|
rs371762530
|
0.00011
|
|
NM_020376.4(PNPLA2):c.597C>T (p.Ser199=)
|
rs552415591
|
0.00011
|
|
NM_020458.4(TTC7A):c.1070C>G (p.Thr357Ser)
|
rs200443615
|
0.00011
|
|
NM_020533.3(MCOLN1):c.1021G>A (p.Val341Ile)
|
rs771026953
|
0.00011
|
|
NM_020533.3(MCOLN1):c.177G>A (p.Lys59=)
|
rs146187044
|
0.00011
|
|
NM_020533.3(MCOLN1):c.24C>T (p.Arg8=)
|
rs886527724
|
0.00011
|
|
NM_020549.5(CHAT):c.1124G>A (p.Arg375Gln)
|
rs201616704
|
0.00011
|
|
NM_020778.5(ALPK3):c.183-5C>T
|
rs758923137
|
0.00011
|
|
NM_020778.5(ALPK3):c.2701G>A (p.Glu901Lys)
|
rs199572606
|
0.00011
|
|
NM_020822.3(KCNT1):c.2217G>A (p.Ser739=)
|
rs143678590
|
0.00011
|
|
NM_020975.6(RET):c.1344C>G (p.Asn448Lys)
|
rs549907428
|
0.00011
|
|
NM_020975.6(RET):c.1522+35C>T
|
rs377130948
|
0.00011
|
|
NM_020975.6(RET):c.1642G>A (p.Gly548Ser)
|
rs374461212
|
0.00011
|
|
NM_020975.6(RET):c.2556C>G (p.Ile852Met)
|
rs377767426
|
0.00011
|
|
NM_020975.6(RET):c.2601G>T (p.Glu867Asp)
|
rs141459368
|
0.00011
|
|
NM_020975.6(RET):c.957C>A (p.Leu319=)
|
rs149926238
|
0.00011
|
|
NM_021076.4(NEFH):c.883+7A>G
|
rs776050286
|
0.00011
|
|
NM_021098.3(CACNA1H):c.5809G>A (p.Val1937Met)
|
rs60040113
|
0.00011
|
|
NM_021830.5(TWNK):c.169G>A (p.Ala57Thr)
|
rs373068264
|
0.00011
|
|
NM_022041.4(GAN):c.1323T>C (p.Tyr441=)
|
rs368072478
|
0.00011
|
|
NM_022047.4(DEF6):c.604C>G (p.Leu202Val)
|
rs377311393
|
0.00011
|
|
NM_022081.6(HPS4):c.922A>G (p.Thr308Ala)
|
rs150057646
|
0.00011
|
|
NM_022089.4(ATP13A2):c.3439C>T (p.Arg1147Cys)
|
rs370421723
|
0.00011
|
|
NM_022124.6(CDH23):c.1450-4G>A
|
rs374549358
|
0.00011
|
|
NM_022124.6(CDH23):c.7394G>A (p.Arg2465Gln)
|
rs199903227
|
0.00011
|
|
NM_022369.4(STRA6):c.1242C>T (p.Arg414=)
|
rs568924861
|
0.00011
|
|
NM_022437.3(ABCG8):c.1647C>T (p.Ala549=)
|
rs369736263
|
0.00011
|
|
NM_022437.3(ABCG8):c.546C>T (p.Ala182=)
|
rs774395087
|
0.00011
|
|
NM_022455.5(NSD1):c.1478C>T (p.Pro493Leu)
|
rs140583358
|
0.00011
|
|
NM_022489.4(INF2):c.2239+16C>T
|
rs370364755
|
0.00011
|
|
NM_024079.5(ALG8):c.1516G>A (p.Ala506Thr)
|
rs149692072
|
0.00011
|
|
NM_024408.4(NOTCH2):c.6957G>A (p.Ala2319=)
|
rs369891453
|
0.00011
|
|
NM_024422.6(DSC2):c.1070G>A (p.Arg357His)
|
rs201201194
|
0.00011
|
|
NM_024649.5(BBS1):c.981C>T (p.Pro327=)
|
rs142243482
|
0.00011
|
|
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr)
|
rs45510998
|
0.00011
|
|
NM_024753.5(TTC21B):c.3631G>A (p.Ala1211Thr)
|
rs767696555
|
0.00011
|
|
NM_024757.5(EHMT1):c.298G>A (p.Asp100Asn)
|
rs540121859
|
0.00011
|
|
NM_024996.7(GFM1):c.622G>A (p.Glu208Lys)
|
rs191462023
|
0.00011
|
|
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His)
|
rs371833544
|
0.00011
|
|
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys)
|
rs138103656
|
0.00011
|
|
NM_025193.4(HSD3B7):c.7G>A (p.Asp3Asn)
|
rs200555135
|
0.00011
|
|
NM_025215.6(PUS1):c.1266G>A (p.Gly422=)
|
rs201441662
|
0.00011
|
|
NM_025216.3(WNT10A):c.347T>C (p.Ile116Thr)
|
rs762311530
|
0.00011
|
|
NM_030665.4(RAI1):c.3678G>A (p.Ser1226=)
|
rs144290584
|
0.00011
|
|
NM_030928.4(CDT1):c.1357C>T (p.Arg453Trp)
|
rs200672589
|
0.00011
|
|
NM_031433.4(MFRP):c.159T>C (p.Gly53=)
|
rs372897338
|
0.00011
|
|
NM_032043.3(BRIP1):c.249A>G (p.Gln83=)
|
rs45528833
|
0.00011
|
|
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)
|
rs28997573
|
0.00011
|
|
NM_032119.4(ADGRV1):c.10323G>T (p.Gly3441=)
|
rs373354231
|
0.00011
|
|
NM_032119.4(ADGRV1):c.12697A>C (p.Ser4233Arg)
|
rs770802961
|
0.00011
|
|
NM_032119.4(ADGRV1):c.12704A>G (p.Tyr4235Cys)
|
rs200644004
|
0.00011
|
|
NM_032119.4(ADGRV1):c.12818A>G (p.His4273Arg)
|
rs201480340
|
0.00011
|
|
NM_032119.4(ADGRV1):c.12919G>A (p.Gly4307Arg)
|
rs190628299
|
0.00011
|
|
NM_032119.4(ADGRV1):c.13496G>A (p.Arg4499His)
|
rs375122809
|
0.00011
|
|
NM_032119.4(ADGRV1):c.15334C>T (p.Arg5112Cys)
|
rs372400654
|
0.00011
|
|
NM_032119.4(ADGRV1):c.2596C>T (p.Arg866Trp)
|
rs200389929
|
0.00011
|
|
NM_032119.4(ADGRV1):c.4429A>G (p.Thr1477Ala)
|
rs202097968
|
0.00011
|
|
NM_032119.4(ADGRV1):c.4472C>T (p.Thr1491Met)
|
rs138373307
|
0.00011
|
|
NM_032119.4(ADGRV1):c.5260A>G (p.Thr1754Ala)
|
rs201186767
|
0.00011
|
|
NM_032119.4(ADGRV1):c.5892T>C (p.Asn1964=)
|
rs201983595
|
0.00011
|
|
NM_032119.4(ADGRV1):c.7806C>G (p.Pro2602=)
|
rs200241260
|
0.00011
|
|
NM_032119.4(ADGRV1):c.8651T>C (p.Val2884Ala)
|
rs111033517
|
0.00011
|
|
NM_032119.4(ADGRV1):c.9631T>C (p.Ser3211Pro)
|
rs766184763
|
0.00011
|
|
NM_032122.5(DTNBP1):c.811+15C>G
|
rs146113366
|
0.00011
|
|
NM_032237.5(POMK):c.760G>A (p.Val254Met)
|
rs34715198
|
0.00011
|
|
NM_032444.4(SLX4):c.2160+8C>T
|
rs374004875
|
0.00011
|
|
NM_032444.4(SLX4):c.833G>A (p.Arg278Gln)
|
rs201192909
|
0.00011
|
|
NM_032520.5(GNPTG):c.510C>T (p.His170=)
|
rs202240106
|
0.00011
|
|
NM_032578.4(MYPN):c.395C>T (p.Pro132Leu)
|
rs201203517
|
0.00011
|
|
NM_032581.4(HYCC1):c.19G>C (p.Gly7Arg)
|
rs370072584
|
0.00011
|
|
NM_032806.6(POMGNT2):c.1010A>G (p.Asn337Ser)
|
rs200535361
|
0.00011
|
|
NM_033337.3(CAV3):c.28G>A (p.Glu10Lys)
|
rs139786391
|
0.00011
|
|
NM_052859.4(RFT1):c.978T>C (p.Ala326=)
|
rs372101755
|
0.00011
|
|
NM_052867.4(NALCN):c.1280T>C (p.Val427Ala)
|
rs371662809
|
0.00011
|
|
NM_052867.4(NALCN):c.2266G>A (p.Val756Met)
|
rs149203278
|
0.00011
|
|
NM_053025.4(MYLK):c.3843C>T (p.Ser1281=)
|
rs377231739
|
0.00011
|
|
NM_053025.4(MYLK):c.4620-4G>A
|
rs371533014
|
0.00011
|
|
NM_058216.3(RAD51C):c.*25C>G
|
rs28363336
|
0.00011
|
|
NM_080424.4(SP110):c.898+14A>G
|
rs200753717
|
0.00011
|
|
NM_080425.4(GNAS):c.897C>A (p.Ser299Arg)
|
rs200409817
|
0.00011
|
|
NM_080680.3(COL11A2):c.1208C>T (p.Pro403Leu)
|
rs201179101
|
0.00011
|
|
NM_080680.3(COL11A2):c.2182A>T (p.Ile728Phe)
|
rs188490457
|
0.00011
|
|
NM_080680.3(COL11A2):c.4149A>G (p.Thr1383=)
|
rs746019545
|
0.00011
|
|
NM_133259.4(LRPPRC):c.242A>G (p.Asn81Ser)
|
rs748138102
|
0.00011
|
|
NM_133433.4(NIPBL):c.5981A>G (p.Asn1994Ser)
|
rs368028754
|
0.00011
|
|
NM_133642.5(LARGE1):c.2073+11C>T
|
rs774384587
|
0.00011
|
|
NM_138387.4(G6PC3):c.687C>T (p.Ser229=)
|
rs377343204
|
0.00011
|
|
NM_138694.4(PKHD1):c.10910G>A (p.Arg3637His)
|
rs371329493
|
0.00011
|
|
NM_138694.4(PKHD1):c.1974C>T (p.Phe658=)
|
rs199635188
|
0.00011
|
|
NM_138694.4(PKHD1):c.4304G>C (p.Ser1435Thr)
|
rs138242579
|
0.00011
|
|
NM_138694.4(PKHD1):c.7221T>C (p.Phe2407=)
|
rs199559837
|
0.00011
|
|
NM_139276.3(STAT3):c.2082T>A (p.His694Gln)
|
rs139701269
|
0.00011
|
|
NM_139276.3(STAT3):c.2228G>T (p.Gly743Val)
|
rs151033214
|
0.00011
|
|
NM_144670.6(A2ML1):c.2773G>A (p.Ala925Thr)
|
rs201363860
|
0.00011
|
|
NM_144687.4(NLRP12):c.2761G>C (p.Gly921Arg)
|
rs199980950
|
0.00011
|
|
NM_144687.4(NLRP12):c.3000G>C (p.Leu1000Phe)
|
rs201437704
|
0.00011
|
|
NM_145239.3(PRRT2):c.879+6C>A
|
rs201887920
|
0.00011
|
|
NM_152383.5(DIS3L2):c.1203C>T (p.Asp401=)
|
rs370165461
|
0.00011
|
|
NM_152383.5(DIS3L2):c.1599C>T (p.His533=)
|
rs760229466
|
0.00011
|
|
NM_152564.5(VPS13B):c.10258G>A (p.Val3420Met)
|
rs191174682
|
0.00011
|
|
NM_152564.5(VPS13B):c.4324T>A (p.Ser1442Thr)
|
rs143566455
|
0.00011
|
|
NM_152564.5(VPS13B):c.7668C>T (p.Ser2556=)
|
rs370903187
|
0.00011
|
|
NM_152594.3(SPRED1):c.963G>A (p.Lys321=)
|
rs369711772
|
0.00011
|
|
NM_152703.5(SAMD9L):c.208C>T (p.Arg70Cys)
|
rs372301151
|
0.00011
|
|
NM_152783.5(D2HGDH):c.517G>A (p.Val173Ile)
|
rs146408017
|
0.00011
|
|
NM_153033.5(KCTD7):c.621C>A (p.Leu207=)
|
rs376944331
|
0.00011
|
|
NM_153717.3(EVC):c.982C>T (p.Leu328Phe)
|
rs199916502
|
0.00011
|
|
NM_170606.3(KMT2C):c.6530A>G (p.Gln2177Arg)
|
rs201637035
|
0.00011
|
|
NM_170699.3(GPBAR1):c.333C>T (p.Tyr111=)
|
rs201129128
|
0.00011
|
|
NM_170707.4(LMNA):c.1314G>A (p.Gly438=)
|
rs774817302
|
0.00011
|
|
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
|
rs60890628
|
0.00011
|
|
NM_172107.4(KCNQ2):c.1301+7C>T
|
rs374877247
|
0.00011
|
|
NM_172364.5(CACNA2D4):c.1807-4del
|
rs756122685
|
0.00011
|
|
NM_173076.3(ABCA12):c.2744C>T (p.Ser915Phe)
|
rs139223000
|
0.00011
|
|
NM_173495.3(PTCHD1):c.1110C>G (p.Asp370Glu)
|
rs369968343
|
0.00011
|
|
NM_173500.4(TTBK2):c.1408T>C (p.Cys470Arg)
|
rs373500080
|
0.00011
|
|
NM_173500.4(TTBK2):c.3722A>C (p.Lys1241Thr)
|
rs36104367
|
0.00011
|
|
NM_173842.3(IL1RN):c.529G>A (p.Glu177Lys)
|
rs114929884
|
0.00011
|
|
NM_175053.4(KRT74):c.143G>A (p.Arg48Gln)
|
rs759304994
|
0.00011
|
|
NM_175875.5(SIX5):c.238C>T (p.Pro80Ser)
|
rs934739524
|
0.00011
|
|
NM_177438.3(DICER1):c.4804G>A (p.Ala1602Thr)
|
rs145669719
|
0.00011
|
|
NM_177438.3(DICER1):c.4870G>C (p.Ala1624Pro)
|
rs372967646
|
0.00011
|
|
NM_177924.5(ASAH1):c.219A>G (p.Leu73=)
|
rs141785977
|
0.00011
|
|
NM_178857.6(RP1L1):c.212G>A (p.Arg71His)
|
rs200996822
|
0.00011
|
|
NM_181303.2(NLGN3):c.435C>T (p.Asn145=)
|
rs771275997
|
0.00011
|
|
NM_181426.2(CCDC39):c.2558G>A (p.Arg853His)
|
rs147183244
|
0.00011
|
|
NM_182914.3(SYNE2):c.15031A>G (p.Ile5011Val)
|
rs201269146
|
0.00011
|
|
NM_182914.3(SYNE2):c.15413C>T (p.Thr5138Met)
|
rs145018323
|
0.00011
|
|
NM_182914.3(SYNE2):c.5689G>A (p.Val1897Ile)
|
rs773841153
|
0.00011
|
|
NM_182961.4(SYNE1):c.20289A>G (p.Ser6763=)
|
rs142327194
|
0.00011
|
|
NM_182961.4(SYNE1):c.21377A>G (p.Lys7126Arg)
|
rs145882956
|
0.00011
|
|
NM_182961.4(SYNE1):c.8557A>G (p.Thr2853Ala)
|
rs77853132
|
0.00011
|
|
NM_194248.3(OTOF):c.377G>A (p.Gly126Asp)
|
rs187033414
|
0.00011
|
|
NM_194248.3(OTOF):c.4951G>A (p.Asp1651Asn)
|
rs139201321
|
0.00011
|
|
NM_198239.2(CCN6):c.131G>A (p.Arg44His)
|
rs782703789
|
0.00011
|
|
NM_198252.3(GSN):c.722C>T (p.Ala241Val)
|
rs144375242
|
0.00011
|
|
NM_198525.3(KIF7):c.1390A>G (p.Ile464Val)
|
rs570856269
|
0.00011
|
|
NM_198578.4(LRRK2):c.632C>T (p.Ala211Val)
|
rs112794616
|
0.00011
|
|
NM_198586.3(NHLRC1):c.478T>C (p.Cys160Arg)
|
rs200595273
|
0.00011
|
|
NM_198904.4(GABRG2):c.1207A>G (p.Thr403Ala)
|
rs757868774
|
0.00011
|
|
NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln)
|
rs114052315
|
0.00011
|
|
NM_201384.3(PLEC):c.10743C>T (p.Gly3581=)
|
rs375573910
|
0.00011
|
|
NM_201384.3(PLEC):c.13006G>A (p.Val4336Ile)
|
rs201163149
|
0.00011
|
|
NM_201384.3(PLEC):c.13471A>G (p.Thr4491Ala)
|
rs782756146
|
0.00011
|
|
NM_201384.3(PLEC):c.13486G>A (p.Gly4496Ser)
|
rs782618187
|
0.00011
|
|
NM_201384.3(PLEC):c.2064G>A (p.Pro688=)
|
rs374590279
|
0.00011
|
|
NM_201384.3(PLEC):c.5941C>T (p.Arg1981Trp)
|
rs962321651
|
0.00011
|
|
NM_201384.3(PLEC):c.6240C>T (p.Arg2080=)
|
rs576688705
|
0.00011
|
|
NM_201384.3(PLEC):c.6841G>A (p.Ala2281Thr)
|
rs200618217
|
0.00011
|
|
NM_201384.3(PLEC):c.7926G>A (p.Pro2642=)
|
rs201098035
|
0.00011
|
|
NM_201384.3(PLEC):c.8912G>A (p.Arg2971Gln)
|
rs552713184
|
0.00011
|
|
NM_205850.3(SLC24A5):c.922T>G (p.Trp308Gly)
|
rs192454382
|
0.00011
|
|
NM_206933.4(USH2A):c.10059G>A (p.Pro3353=)
|
rs147842359
|
0.00011
|
|
NM_206933.4(USH2A):c.10341C>T (p.Ala3447=)
|
rs372015149
|
0.00011
|
|
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met)
|
rs139065588
|
0.00011
|
|
NM_206933.4(USH2A):c.1935A>T (p.Thr645=)
|
rs146670690
|
0.00011
|
|
NM_206933.4(USH2A):c.4646G>A (p.Arg1549Gln)
|
rs190170807
|
0.00011
|
|
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile)
|
rs143240767
|
0.00011
|
|
NM_213655.5(WNK1):c.2533C>T (p.Arg845Cys)
|
rs200794710
|
0.00011
|
|
NM_213655.5(WNK1):c.2605C>A (p.Leu869Ile)
|
rs377073379
|
0.00011
|
|
NM_000016.6(ACADM):c.210T>G (p.Thr70=)
|
rs778891510
|
0.00010
|
|
NM_000018.4(ACADVL):c.62+9G>A
|
rs369512281
|
0.00010
|
|
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys)
|
rs753816946
|
0.00010
|
|
NM_000023.4(SGCA):c.320C>T (p.Ala107Val)
|
rs186669379
|
0.00010
|
|
NM_000027.4(AGA):c.109A>G (p.Lys37Glu)
|
rs766776902
|
0.00010
|
|
NM_000032.5(ALAS2):c.1103G>A (p.Arg368Gln)
|
rs371716491
|
0.00010
|
|
NM_000032.5(ALAS2):c.661G>A (p.Ala221Thr)
|
rs753156183
|
0.00010
|
|
NM_000033.4(ABCD1):c.1582G>A (p.Gly528Ser)
|
rs376472029
|
0.00010
|
|
NM_000033.4(ABCD1):c.54G>A (p.Thr18=)
|
rs781855598
|
0.00010
|
|
NM_000037.4(ANK1):c.2389-10C>T
|
rs764935260
|
0.00010
|
|
NM_000038.6(APC):c.388A>G (p.Ser130Gly)
|
rs150973053
|
0.00010
|
|
NM_000038.6(APC):c.4918C>T (p.Arg1640Trp)
|
rs373440614
|
0.00010
|
|
NM_000039.3(APOA1):c.454G>A (p.Glu152Lys)
|
rs574061789
|
0.00010
|
|
NM_000046.5(ARSB):c.914C>T (p.Thr305Ile)
|
rs199931771
|
0.00010
|
|
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile)
|
rs200381392
|
0.00010
|
|
NM_000051.4(ATM):c.5618G>A (p.Cys1873Tyr)
|
rs587782239
|
0.00010
|
|
NM_000051.4(ATM):c.6382T>C (p.Leu2128=)
|
rs753646931
|
0.00010
|
|
NM_000051.4(ATM):c.6572+11C>T
|
rs368049107
|
0.00010
|
|
NM_000051.4(ATM):c.7494T>C (p.Ser2498=)
|
rs34393781
|
0.00010
|
|
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala)
|
rs377648506
|
0.00010
|
|
NM_000057.4(BLM):c.2839A>G (p.Ile947Val)
|
rs189925962
|
0.00010
|
|
NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly)
|
rs150631940
|
0.00010
|
|
NM_000059.4(BRCA2):c.10045A>G (p.Thr3349Ala)
|
rs80358387
|
0.00010
|
|
NM_000059.4(BRCA2):c.2488A>G (p.Asn830Asp)
|
rs574039421
|
0.00010
|
|
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser)
|
rs80358765
|
0.00010
|
|
NM_000059.4(BRCA2):c.8633-16C>G
|
rs81002818
|
0.00010
|
|
NM_000069.3(CACNA1S):c.1325T>C (p.Val442Ala)
|
rs202217590
|
0.00010
|
|
NM_000069.3(CACNA1S):c.2555C>T (p.Thr852Met)
|
rs200334886
|
0.00010
|
|
NM_000069.3(CACNA1S):c.2658G>A (p.Glu886=)
|
rs140924492
|
0.00010
|
|
NM_000069.3(CACNA1S):c.2963G>A (p.Arg988His)
|
rs747618077
|
0.00010
|
|
NM_000069.3(CACNA1S):c.5299C>A (p.Pro1767Thr)
|
rs200434921
|
0.00010
|
|
NM_000070.3(CAPN3):c.945+15G>A
|
rs567256305
|
0.00010
|
|
NM_000071.3(CBS):c.1146-12C>T
|
rs199550738
|
0.00010
|
|
NM_000071.3(CBS):c.894G>A (p.Gln298=)
|
rs370514077
|
0.00010
|
|
NM_000077.5(CDKN2A):c.261G>A (p.Arg87=)
|
rs546300971
|
0.00010
|
|
NM_000080.4(CHRNE):c.506A>T (p.Gln169Leu)
|
rs148370803
|
0.00010
|
|
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu)
|
rs201434993
|
0.00010
|
|
NM_000081.4(LYST):c.10221C>T (p.Tyr3407=)
|
rs146457386
|
0.00010
|
|
NM_000081.4(LYST):c.196T>C (p.Leu66=)
|
rs138393416
|
0.00010
|
|
NM_000081.4(LYST):c.2826A>G (p.Pro942=)
|
rs149558986
|
0.00010
|
|
NM_000088.4(COL1A1):c.391C>A (p.Arg131=)
|
rs776611767
|
0.00010
|
|
NM_000090.4(COL3A1):c.3775G>A (p.Ala1259Thr)
|
rs776478974
|
0.00010
|
|
NM_000091.5(COL4A3):c.2887G>A (p.Ala963Thr)
|
rs200801946
|
0.00010
|
|
NM_000094.4(COL7A1):c.2392G>A (p.Gly798Arg)
|
rs202237834
|
0.00010
|
|
NM_000094.4(COL7A1):c.4978C>T (p.Arg1660Trp)
|
rs147285396
|
0.00010
|
|
NM_000094.4(COL7A1):c.520+9C>T
|
rs368959634
|
0.00010
|
|
NM_000094.4(COL7A1):c.8095G>A (p.Glu2699Lys)
|
rs200938473
|
0.00010
|
|
NM_000096.4(CP):c.929G>A (p.Arg310His)
|
rs202217551
|
0.00010
|
|
NM_000130.5(F5):c.2037C>G (p.Phe679Leu)
|
rs374118662
|
0.00010
|
|
NM_000130.5(F5):c.5923G>C (p.Gly1975Arg)
|
rs146312772
|
0.00010
|
|
NM_000133.4(F9):c.769G>A (p.Val257Ile)
|
rs200608775
|
0.00010
|
|
NM_000135.4(FANCA):c.1281G>C (p.Met427Ile)
|
rs747322973
|
0.00010
|
|
NM_000136.3(FANCC):c.896+6C>T
|
rs199525333
|
0.00010
|
|
NM_000137.4(FAH):c.648C>A (p.Ile216=)
|
rs147016995
|
0.00010
|
|
NM_000138.5(FBN1):c.2094G>T (p.Pro698=)
|
rs144775475
|
0.00010
|
|
NM_000143.4(FH):c.33G>C (p.Ser11=)
|
rs200542051
|
0.00010
|
|
NM_000147.5(FUCA1):c.825A>T (p.Gly275=)
|
rs199675692
|
0.00010
|
|
NM_000152.5(GAA):c.1758G>A (p.Ala586=)
|
rs79795428
|
0.00010
|
|
NM_000152.5(GAA):c.1920T>G (p.Pro640=)
|
rs144090460
|
0.00010
|
|
NM_000152.5(GAA):c.2319C>T (p.Tyr773=)
|
rs377402848
|
0.00010
|
|
NM_000152.5(GAA):c.610G>A (p.Ala204Thr)
|
rs780799275
|
0.00010
|
|
NM_000163.5(GHR):c.195A>G (p.Ser65=)
|
rs140501920
|
0.00010
|
|
NM_000163.5(GHR):c.585A>G (p.Gln195=)
|
rs6413483
|
0.00010
|
|
NM_000168.6(GLI3):c.2200G>A (p.Asp734Asn)
|
rs140479817
|
0.00010
|
|
NM_000179.3(MSH6):c.1729C>T (p.Arg577Cys)
|
rs542838372
|
0.00010
|
|
NM_000179.3(MSH6):c.1875C>T (p.Ser625=)
|
rs63749886
|
0.00010
|
|
NM_000179.3(MSH6):c.2417C>G (p.Ser806Cys)
|
rs372990379
|
0.00010
|
|
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu)
|
rs191109849
|
0.00010
|
|
NM_000179.3(MSH6):c.335A>G (p.Asn112Ser)
|
rs587779934
|
0.00010
|
|
NM_000179.3(MSH6):c.3788G>A (p.Arg1263His)
|
rs147852216
|
0.00010
|
|
NM_000186.4(CFH):c.1548T>A (p.Asn516Lys)
|
rs147403664
|
0.00010
|
|
NM_000199.5(SGSH):c.250-15C>T
|
rs369082713
|
0.00010
|
|
NM_000203.5(IDUA):c.1402+8G>A
|
rs1315308939
|
0.00010
|
|
NM_000208.4(INSR):c.1665T>C (p.Ser555=)
|
rs149795690
|
0.00010
|
|
NM_000214.3(JAG1):c.2917-7G>A
|
rs201573066
|
0.00010
|
|
NM_000243.3(MEFV):c.1043G>A (p.Arg348His)
|
rs104895198
|
0.00010
|
|
NM_000246.4(CIITA):c.1545C>T (p.Cys515=)
|
rs200146904
|
0.00010
|
|
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr)
|
rs63751225
|
0.00010
|
|
NM_000254.3(MTR):c.3552C>T (p.Thr1184=)
|
rs760793648
|
0.00010
|
|
NM_000254.3(MTR):c.866-10C>G
|
rs368755647
|
0.00010
|
|
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys)
|
rs193922385
|
0.00010
|
|
NM_000257.4(MYH7):c.1191G>A (p.Lys397=)
|
rs139506719
|
0.00010
|
|
NM_000260.4(MYO7A):c.2680G>A (p.Glu894Lys)
|
rs372366760
|
0.00010
|
|
NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr)
|
rs41298131
|
0.00010
|
|
NM_000260.4(MYO7A):c.5356T>A (p.Ser1786Thr)
|
rs374576916
|
0.00010
|
|
NM_000262.3(NAGA):c.618G>A (p.Ala206=)
|
rs200770245
|
0.00010
|
|
NM_000264.5(PTCH1):c.1234G>T (p.Ala412Ser)
|
rs370354759
|
0.00010
|
|
NM_000264.5(PTCH1):c.324A>G (p.Ile108Met)
|
rs144182921
|
0.00010
|
|
NM_000264.5(PTCH1):c.4027G>A (p.Gly1343Arg)
|
rs200100952
|
0.00010
|
|
NM_000271.5(NPC1):c.962C>T (p.Ala321Val)
|
rs138079168
|
0.00010
|
|
NM_000282.4(PCCA):c.1193G>C (p.Cys398Ser)
|
rs149293297
|
0.00010
|
|
NM_000287.4(PEX6):c.970G>A (p.Glu324Lys)
|
rs201678533
|
0.00010
|
|
NM_000293.3(PHKB):c.714G>A (p.Ser238=)
|
rs772326970
|
0.00010
|
|
NM_000298.6(PKLR):c.1365C>T (p.Thr455=)
|
rs146708702
|
0.00010
|
|
NM_000334.4(SCN4A):c.5401G>A (p.Ala1801Thr)
|
rs201192904
|
0.00010
|
|
NM_000334.4(SCN4A):c.5468C>G (p.Pro1823Arg)
|
rs376833596
|
0.00010
|
|
NM_000335.5(SCN5A):c.*1G>A
|
rs375282305
|
0.00010
|
|
NM_000335.5(SCN5A):c.5199C>T (p.Asn1733=)
|
rs368980118
|
0.00010
|
|
NM_000337.6(SGCD):c.-30G>A
|
rs374043017
|
0.00010
|
|
NM_000337.6(SGCD):c.394G>A (p.Val132Ile)
|
rs367819390
|
0.00010
|
|
NM_000337.6(SGCD):c.793G>A (p.Val265Ile)
|
rs772185467
|
0.00010
|
|
NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=)
|
rs570745701
|
0.00010
|
|
NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn)
|
rs367974472
|
0.00010
|
|
NM_000352.6(ABCC8):c.4227C>T (p.Ile1409=)
|
rs146584228
|
0.00010
|
|
NM_000355.4(TCN2):c.921A>C (p.Pro307=)
|
rs138738105
|
0.00010
|
|
NM_000360.4(TH):c.126C>A (p.Ile42=)
|
rs755664117
|
0.00010
|
|
NM_000360.4(TH):c.1389G>A (p.Thr463=)
|
rs370029424
|
0.00010
|
|
NM_000368.5(TSC1):c.3125G>T (p.Ser1042Ile)
|
rs148931779
|
0.00010
|
|
NM_000384.3(APOB):c.2123A>G (p.Gln708Arg)
|
rs371190827
|
0.00010
|
|
NM_000384.3(APOB):c.400G>T (p.Ala134Ser)
|
rs368321279
|
0.00010
|
|
NM_000384.3(APOB):c.5137G>T (p.Ala1713Ser)
|
rs769789232
|
0.00010
|
|
NM_000384.3(APOB):c.8661T>C (p.Thr2887=)
|
rs144023029
|
0.00010
|
|
NM_000392.5(ABCC2):c.1457C>T (p.Thr486Ile)
|
rs17222589
|
0.00010
|
|
NM_000395.3(CSF2RB):c.2050G>C (p.Gly684Arg)
|
rs150659075
|
0.00010
|
|
NM_000426.4(LAMA2):c.1391C>T (p.Pro464Leu)
|
rs150394215
|
0.00010
|
|
NM_000426.4(LAMA2):c.9161C>A (p.Ala3054Glu)
|
rs151049890
|
0.00010
|
|
NM_000426.4(LAMA2):c.9262A>G (p.Ile3088Val)
|
rs768834542
|
0.00010
|
|
NM_000439.5(PCSK1):c.709+11G>A
|
rs199951150
|
0.00010
|
|
NM_000440.3(PDE6A):c.2249G>A (p.Arg750His)
|
rs146145709
|
0.00010
|
|
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val)
|
rs111033423
|
0.00010
|
|
NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met)
|
rs150597240
|
0.00010
|
|
NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn)
|
rs138462416
|
0.00010
|
|
NM_000447.3(PSEN2):c.300C>T (p.Ile100=)
|
rs200801915
|
0.00010
|
|
NM_000451.4(SHOX):c.545-10T>C
|
rs370327147
|
0.00010
|
|
NM_000451.4(SHOX):c.698C>T (p.Ala233Val)
|
rs750375727
|
0.00010
|
|
NM_000452.3(SLC10A2):c.654C>T (p.Ser218=)
|
rs140050923
|
0.00010
|
|
NM_000465.4(BARD1):c.1568+15G>T
|
rs145936354
|
0.00010
|
|
NM_000481.4(AMT):c.1062C>A (p.Pro354=)
|
rs377227163
|
0.00010
|
|
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn)
|
rs74315466
|
0.00010
|
|
NM_000489.6(ATRX):c.6871A>G (p.Ile2291Val)
|
rs374244026
|
0.00010
|
|
NM_000489.6(ATRX):c.831C>T (p.Val277=)
|
rs142561199
|
0.00010
|
|
NM_000501.4(ELN):c.460G>A (p.Val154Met)
|
rs145669576
|
0.00010
|
|
NM_000514.4(GDNF):c.138G>A (p.Ala46=)
|
rs375385439
|
0.00010
|
|
NM_000532.5(PCCB):c.1154A>G (p.Asn385Ser)
|
rs151078515
|
0.00010
|
|
NM_000535.7(PMS2):c.2276-10A>G
|
rs573900018
|
0.00010
|
|
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr)
|
rs114090343
|
0.00010
|
|
NM_000540.3(RYR1):c.10440+4G>A
|
rs373523691
|
0.00010
|
|
NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys)
|
rs138593495
|
0.00010
|
|
NM_000540.3(RYR1):c.11691T>C (p.Asp3897=)
|
rs201588544
|
0.00010
|
|
NM_000540.3(RYR1):c.14670G>C (p.Val4890=)
|
rs773080803
|
0.00010
|
|
NM_000540.3(RYR1):c.418G>A (p.Ala140Thr)
|
rs142474192
|
0.00010
|
|
NM_000540.3(RYR1):c.7433C>A (p.Thr2478Asn)
|
rs141298868
|
0.00010
|
|
NM_000548.5(TSC2):c.-30+2T>C
|
rs796053514
|
0.00010
|
|
NM_000548.5(TSC2):c.2986A>G (p.Thr996Ala)
|
rs139753238
|
0.00010
|
|
NM_000553.6(WRN):c.2067C>T (p.Ser689=)
|
rs191757062
|
0.00010
|
|
NM_000553.6(WRN):c.4127C>T (p.Pro1376Leu)
|
rs146055899
|
0.00010
|
|
NM_000553.6(WRN):c.514A>C (p.Thr172Pro)
|
rs367991517
|
0.00010
|
|
NM_000562.3(C8A):c.1657G>A (p.Ala553Thr)
|
rs375719279
|
0.00010
|
|
NM_000565.4(IL6R):c.1184G>A (p.Arg395Gln)
|
rs371236018
|
0.00010
|
|
NM_000709.4(BCKDHA):c.159G>C (p.Gln53His)
|
rs775471043
|
0.00010
|
|
NM_000717.5(CA4):c.923C>A (p.Ala308Asp)
|
rs201580764
|
0.00010
|
|
NM_000719.7(CACNA1C):c.1753G>A (p.Val585Met)
|
rs763738559
|
0.00010
|
|
NM_000719.7(CACNA1C):c.5717G>A (p.Arg1906Gln)
|
rs758166168
|
0.00010
|
|
NM_000745.4(CHRNA5):c.713C>T (p.Pro238Leu)
|
rs61742337
|
0.00010
|
|
NM_000751.3(CHRND):c.1048-7G>T
|
rs369026633
|
0.00010
|
|
NM_000751.3(CHRND):c.1125G>A (p.Val375=)
|
rs143246852
|
0.00010
|
|
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=)
|
rs200553205
|
0.00010
|
|
NM_000784.4(CYP27A1):c.792G>A (p.Val264=)
|
rs144018609
|
0.00010
|
|
NM_000787.4(DBH):c.1094T>C (p.Met365Thr)
|
rs200103371
|
0.00010
|
|
NM_000821.7(GGCX):c.539+10del
|
rs774014206
|
0.00010
|
|
NM_000883.4(IMPDH1):c.1551C>T (p.Ser517=)
|
rs148875137
|
0.00010
|
|
NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser)
|
rs201944276
|
0.00010
|
|
NM_001005373.4(LRSAM1):c.620-3C>T
|
rs373015900
|
0.00010
|
|
NM_001015877.2(PHF6):c.414C>T (p.Ser138=)
|
rs200423380
|
0.00010
|
|
NM_001018005.2(TPM1):c.773-3T>C
|
rs113759732
|
0.00010
|
|
NM_001029883.3(PCARE):c.2191G>A (p.Val731Ile)
|
rs201790782
|
0.00010
|
|
NM_001029896.2(WDR45):c.100G>A (p.Val34Met)
|
rs151051355
|
0.00010
|
|
NM_001034853.2(RPGR):c.36T>G (p.Gly12=)
|
rs769123303
|
0.00010
|
|
NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val)
|
rs373261115
|
0.00010
|
|
NM_001035.3(RYR2):c.5571G>A (p.Pro1857=)
|
rs371934582
|
0.00010
|
|
NM_001035.3(RYR2):c.9067+10C>T
|
rs372631657
|
0.00010
|
|
NM_001038603.3(MARVELD2):c.808A>C (p.Ile270Leu)
|
rs139234053
|
0.00010
|
|
NM_001040142.2(SCN2A):c.1759A>C (p.Ile587Leu)
|
rs148275498
|
0.00010
|
|
NM_001040142.2(SCN2A):c.24G>A (p.Pro8=)
|
rs149534277
|
0.00010
|
|
NM_001040436.3(YARS2):c.*142T>C
|
rs190589666
|
0.00010
|
|
NM_001040716.2(PC):c.2224-14C>T
|
rs780315450
|
0.00010
|
|
NM_001042517.2(DIAPH3):c.3124C>T (p.Arg1042Cys)
|
rs760815388
|
0.00010
|
|
NM_001048174.2(MUTYH):c.397G>C (p.Asp133His)
|
rs564930066
|
0.00010
|
|
NM_001065.4(TNFRSF1A):c.249G>A (p.Glu83=)
|
rs104895265
|
0.00010
|
|
NM_001077365.2(POMT1):c.330C>G (p.Leu110=)
|
rs138064523
|
0.00010
|
|
NM_001080.3(ALDH5A1):c.862A>G (p.Thr288Ala)
|
rs373320785
|
0.00010
|
|
NM_001080517.3(SETD5):c.2426A>G (p.Tyr809Cys)
|
rs1270531724
|
0.00010
|
|
NM_001081.4(CUBN):c.3746G>A (p.Arg1249His)
|
rs151039810
|
0.00010
|
|
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu)
|
rs139489232
|
0.00010
|
|
NM_001105206.3(LAMA4):c.1390C>G (p.His464Asp)
|
rs151119304
|
0.00010
|
|
NM_001105206.3(LAMA4):c.1551+4C>T
|
rs201209516
|
0.00010
|
|
NM_001110556.2(FLNA):c.1376C>T (p.Thr459Met)
|
rs375463904
|
0.00010
|
|
NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=)
|
rs200363918
|
0.00010
|
|
NM_001110556.2(FLNA):c.6227-7C>T
|
rs370491691
|
0.00010
|
|
NM_001110556.2(FLNA):c.6307A>G (p.Arg2103Gly)
|
rs370277156
|
0.00010
|
|
NM_001110556.2(FLNA):c.6804T>C (p.Ala2268=)
|
rs376461465
|
0.00010
|
|
NM_001110556.2(FLNA):c.7362G>A (p.Thr2454=)
|
rs369179210
|
0.00010
|
|
NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys)
|
rs369717556
|
0.00010
|
|
NM_001111125.3(IQSEC2):c.596C>T (p.Pro199Leu)
|
rs782439813
|
0.00010
|
|
NM_001113378.2(FANCI):c.2890-13C>T
|
rs377269890
|
0.00010
|
|
NM_001114753.3(ENG):c.850G>A (p.Glu284Lys)
|
rs372045549
|
0.00010
|
|
NM_001122955.4(BSCL2):c.745G>A (p.Ala249Thr)
|
rs10776
|
0.00010
|
|
NM_001123385.2(BCOR):c.837C>T (p.Leu279=)
|
rs753531268
|
0.00010
|
|
NM_001127644.2(GABRA1):c.*2T>A
|
rs762836110
|
0.00010
|
|
NM_001127671.2(LIFR):c.2280G>A (p.Leu760=)
|
rs370455274
|
0.00010
|
|
NM_001128840.3(CACNA1D):c.3115-3C>T
|
rs779910083
|
0.00010
|
|
NM_001128840.3(CACNA1D):c.5165G>C (p.Ser1722Thr)
|
rs759409255
|
0.00010
|
|
NM_001128840.3(CACNA1D):c.5473C>T (p.Arg1825Trp)
|
rs144688228
|
0.00010
|
|
NM_001128840.3(CACNA1D):c.6101G>A (p.Arg2034Gln)
|
rs771758707
|
0.00010
|
|
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=)
|
rs199955501
|
0.00010
|
|
NM_001134363.3(RBM20):c.1418C>T (p.Ala473Val)
|
rs727503387
|
0.00010
|
|
NM_001134363.3(RBM20):c.2761A>G (p.Ile921Val)
|
rs397516608
|
0.00010
|
|
NM_001134407.3(GRIN2A):c.3535T>G (p.Ser1179Ala)
|
rs142670870
|
0.00010
|
|
NM_001142864.4(PIEZO1):c.6315C>G (p.Leu2105=)
|
rs564995953
|
0.00010
|
|
NM_001142864.4(PIEZO1):c.7558A>G (p.Lys2520Glu)
|
rs570744198
|
0.00010
|
|
NM_001145809.2(MYH14):c.1918C>T (p.Arg640Trp)
|
rs376267080
|
0.00010
|
|
NM_001148.6(ANK2):c.10627A>G (p.Ile3543Val)
|
rs753102215
|
0.00010
|
|
NM_001148.6(ANK2):c.10805G>A (p.Arg3602Gln)
|
rs374991526
|
0.00010
|
|
NM_001148.6(ANK2):c.3074G>C (p.Gly1025Ala)
|
rs773532854
|
0.00010
|
|
NM_001148.6(ANK2):c.7868C>G (p.Ser2623Cys)
|
rs116253689
|
0.00010
|
|
NM_001148.6(ANK2):c.9116A>G (p.Asp3039Gly)
|
rs140539843
|
0.00010
|
|
NM_001160372.4(TRAPPC9):c.2901G>C (p.Glu967Asp)
|
rs139074311
|
0.00010
|
|
NM_001161352.2(KCNMA1):c.414G>A (p.Ala138=)
|
rs61736948
|
0.00010
|
|
NM_001164508.2(NEB):c.1182A>C (p.Thr394=)
|
rs186233985
|
0.00010
|
|
NM_001164508.2(NEB):c.18224A>C (p.His6075Pro)
|
rs768813228
|
0.00010
|
|
NM_001164508.2(NEB):c.18859C>T (p.Arg6287Cys)
|
rs374606967
|
0.00010
|
|
NM_001164508.2(NEB):c.19751T>G (p.Met6584Arg)
|
rs190605644
|
0.00010
|
|
NM_001164508.2(NEB):c.21525C>T (p.Ile7175=)
|
rs369183371
|
0.00010
|
|
NM_001164508.2(NEB):c.25564G>A (p.Val8522Ile)
|
rs117861109
|
0.00010
|
|
NM_001164508.2(NEB):c.2573C>T (p.Ala858Val)
|
rs372217127
|
0.00010
|
|
NM_001164508.2(NEB):c.4904C>T (p.Thr1635Ile)
|
rs199662534
|
0.00010
|
|
NM_001164508.2(NEB):c.4938C>T (p.Asn1646=)
|
rs765208384
|
0.00010
|
|
NM_001164508.2(NEB):c.5495T>C (p.Ile1832Thr)
|
rs751494785
|
0.00010
|
|
NM_001164508.2(NEB):c.6369G>A (p.Thr2123=)
|
rs540542570
|
0.00010
|
|
NM_001164508.2(NEB):c.7343G>A (p.Arg2448His)
|
rs373589529
|
0.00010
|
|
NM_001164508.2(NEB):c.8019C>T (p.Leu2673=)
|
rs755883171
|
0.00010
|
|
NM_001165963.4(SCN1A):c.597A>G (p.Thr199=)
|
rs398123600
|
0.00010
|
|
NM_001184880.2(PCDH19):c.942G>A (p.Leu314=)
|
rs773740606
|
0.00010
|
|
NM_001191061.2(SLC25A22):c.414C>T (p.Ala138=)
|
rs199887745
|
0.00010
|
|
NM_001195305.3(BBIP1):c.233G>A (p.Arg78His)
|
rs532149239
|
0.00010
|
|
NM_001199397.3(NEK1):c.642G>A (p.Lys214=)
|
rs369725706
|
0.00010
|
|
NM_001206979.2(NR1H4):c.1245T>C (p.Leu415=)
|
rs368975126
|
0.00010
|
|
NM_001243133.2(NLRP3):c.944C>T (p.Pro315Leu)
|
rs180177462
|
0.00010
|
|
NM_001243279.3(ACSF3):c.1127-5T>C
|
rs200245960
|
0.00010
|
|
NM_001256447.2(BCAP31):c.92+4T>C
|
rs782080260
|
0.00010
|
|
NM_001267550.2(TTN):c.102524G>A (p.Arg34175Gln)
|
rs201954720
|
0.00010
|
|
NM_001267550.2(TTN):c.104522G>A (p.Arg34841His)
|
rs373709706
|
0.00010
|
|
NM_001267550.2(TTN):c.104605G>A (p.Glu34869Lys)
|
rs563430855
|
0.00010
|
|
NM_001267550.2(TTN):c.105876G>A (p.Leu35292=)
|
rs372521529
|
0.00010
|
|
NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val)
|
rs377337528
|
0.00010
|
|
NM_001267550.2(TTN):c.11338G>A (p.Glu3780Lys)
|
rs727504586
|
0.00010
|
|
NM_001267550.2(TTN):c.12547A>G (p.Lys4183Glu)
|
rs201565932
|
0.00010
|
|
NM_001267550.2(TTN):c.12957G>A (p.Ala4319=)
|
rs762330685
|
0.00010
|
|
NM_001267550.2(TTN):c.13090G>A (p.Val4364Met)
|
rs201506104
|
0.00010
|
|
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr)
|
rs142414432
|
0.00010
|
|
NM_001267550.2(TTN):c.13479T>G (p.Pro4493=)
|
rs368698752
|
0.00010
|
|
NM_001267550.2(TTN):c.15086G>A (p.Arg5029Gln)
|
rs200792058
|
0.00010
|
|
NM_001267550.2(TTN):c.1815T>C (p.Thr605=)
|
rs757604614
|
0.00010
|
|
NM_001267550.2(TTN):c.18295C>T (p.Leu6099Phe)
|
rs370109572
|
0.00010
|
|
NM_001267550.2(TTN):c.18557C>T (p.Thr6186Met)
|
rs200359082
|
0.00010
|
|
NM_001267550.2(TTN):c.18663A>C (p.Glu6221Asp)
|
rs369544339
|
0.00010
|
|
NM_001267550.2(TTN):c.24639A>C (p.Gln8213His)
|
rs397517510
|
0.00010
|
|
NM_001267550.2(TTN):c.25570G>A (p.Gly8524Arg)
|
rs371512914
|
0.00010
|
|
NM_001267550.2(TTN):c.25937G>A (p.Arg8646His)
|
rs144587343
|
0.00010
|
|
NM_001267550.2(TTN):c.266C>G (p.Ala89Gly)
|
rs200165636
|
0.00010
|
|
NM_001267550.2(TTN):c.26928G>A (p.Leu8976=)
|
rs370973715
|
0.00010
|
|
NM_001267550.2(TTN):c.33286C>T (p.Arg11096Cys)
|
rs377710763
|
0.00010
|
|
NM_001267550.2(TTN):c.39606A>G (p.Pro13202=)
|
rs372356060
|
0.00010
|
|
NM_001267550.2(TTN):c.4150G>T (p.Ala1384Ser)
|
rs144609506
|
0.00010
|
|
NM_001267550.2(TTN):c.43G>A (p.Val15Ile)
|
rs201857541
|
0.00010
|
|
NM_001267550.2(TTN):c.44036G>A (p.Arg14679Gln)
|
rs369709751
|
0.00010
|
|
NM_001267550.2(TTN):c.44323G>A (p.Val14775Met)
|
rs540115992
|
0.00010
|
|
NM_001267550.2(TTN):c.46222G>A (p.Ala15408Thr)
|
rs730880239
|
0.00010
|
|
NM_001267550.2(TTN):c.49278T>C (p.Ala16426=)
|
rs372633280
|
0.00010
|
|
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu)
|
rs200778464
|
0.00010
|
|
NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile)
|
rs369476725
|
0.00010
|
|
NM_001267550.2(TTN):c.63917G>A (p.Arg21306His)
|
rs202240487
|
0.00010
|
|
NM_001267550.2(TTN):c.63960T>A (p.Val21320=)
|
rs397517655
|
0.00010
|
|
NM_001267550.2(TTN):c.65672C>T (p.Pro21891Leu)
|
rs397517662
|
0.00010
|
|
NM_001267550.2(TTN):c.66123A>G (p.Pro22041=)
|
rs727504190
|
0.00010
|
|
NM_001267550.2(TTN):c.67445G>A (p.Arg22482Gln)
|
rs200146608
|
0.00010
|
|
NM_001267550.2(TTN):c.68165A>G (p.Asn22722Ser)
|
rs200493270
|
0.00010
|
|
NM_001267550.2(TTN):c.6927T>A (p.Asn2309Lys)
|
rs147580120
|
0.00010
|
|
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=)
|
rs369503828
|
0.00010
|
|
NM_001267550.2(TTN):c.73783G>A (p.Ala24595Thr)
|
rs543275318
|
0.00010
|
|
NM_001267550.2(TTN):c.7469G>A (p.Arg2490His)
|
rs148920986
|
0.00010
|
|
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu)
|
rs142453163
|
0.00010
|
|
NM_001267550.2(TTN):c.76738A>G (p.Thr25580Ala)
|
rs371711135
|
0.00010
|
|
NM_001267550.2(TTN):c.77706C>T (p.Asp25902=)
|
rs375764395
|
0.00010
|
|
NM_001267550.2(TTN):c.80854G>A (p.Val26952Ile)
|
rs371362606
|
0.00010
|
|
NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys)
|
rs397517719
|
0.00010
|
|
NM_001267550.2(TTN):c.82061T>G (p.Val27354Gly)
|
rs368023868
|
0.00010
|
|
NM_001267550.2(TTN):c.82754C>A (p.Ser27585Tyr)
|
rs72648215
|
0.00010
|
|
NM_001267550.2(TTN):c.84946G>C (p.Glu28316Gln)
|
rs183238138
|
0.00010
|
|
NM_001267550.2(TTN):c.86471C>T (p.Thr28824Ile)
|
rs200709344
|
0.00010
|
|
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln)
|
rs200639218
|
0.00010
|
|
NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg)
|
rs200854704
|
0.00010
|
|
NM_001267550.2(TTN):c.91732G>A (p.Val30578Ile)
|
rs727504672
|
0.00010
|
|
NM_001267550.2(TTN):c.93981C>G (p.Val31327=)
|
rs370894846
|
0.00010
|
|
NM_001267550.2(TTN):c.98807G>A (p.Arg32936His)
|
rs774296358
|
0.00010
|
|
NM_001277115.2(DNAH11):c.2500G>A (p.Val834Met)
|
rs368578923
|
0.00010
|
|
NM_001278116.2(L1CAM):c.1993C>G (p.Leu665Val)
|
rs199592861
|
0.00010
|
|
NM_001291303.3(FAT4):c.12778G>A (p.Val4260Ile)
|
rs369024765
|
0.00010
|
|
NM_001291303.3(FAT4):c.9597T>A (p.Asp3199Glu)
|
rs568003396
|
0.00010
|
|
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala)
|
rs55803460
|
0.00010
|
|
NM_001330078.2(NRXN1):c.3090A>C (p.Gly1030=)
|
rs201886024
|
0.00010
|
|
NM_001330078.2(NRXN1):c.749T>A (p.Phe250Tyr)
|
rs200646155
|
0.00010
|
|
NM_001355436.2(SPTB):c.4973+4C>T
|
rs758611621
|
0.00010
|
|
NM_001356.5(DDX3X):c.426A>C (p.Pro142=)
|
rs779721240
|
0.00010
|
|
NM_001360.3(DHCR7):c.1365C>T (p.Tyr455=)
|
rs557097410
|
0.00010
|
|
NM_001364171.2(ODAD1):c.1175C>T (p.Ser392Leu)
|
rs201978870
|
0.00010
|
|
NM_001364905.1(LRBA):c.6046+7G>T
|
rs376126419
|
0.00010
|
|
NM_001367624.2(ZNF469):c.10462G>A (p.Glu3488Lys)
|
rs781244140
|
0.00010
|
|
NM_001367624.2(ZNF469):c.1627G>A (p.Gly543Ser)
|
rs281865145
|
0.00010
|
|
NM_001367624.2(ZNF469):c.6176C>T (p.Pro2059Leu)
|
rs955717531
|
0.00010
|
|
NM_001369.3(DNAH5):c.11322C>T (p.Ser3774=)
|
rs267600357
|
0.00010
|
|
NM_001369.3(DNAH5):c.12272T>C (p.Met4091Thr)
|
rs142570731
|
0.00010
|
|
NM_001369.3(DNAH5):c.20G>A (p.Arg7Lys)
|
rs139728564
|
0.00010
|
|
NM_001369.3(DNAH5):c.2400G>A (p.Glu800=)
|
rs199951976
|
0.00010
|
|
NM_001369.3(DNAH5):c.4689C>T (p.Gly1563=)
|
rs375658702
|
0.00010
|
|
NM_001369.3(DNAH5):c.9626A>G (p.Lys3209Arg)
|
rs201473584
|
0.00010
|
|
NM_001369268.1(ACAN):c.894C>T (p.Ser298=)
|
rs576947078
|
0.00010
|
|
NM_001370466.1(NOD2):c.2099C>T (p.Pro700Leu)
|
rs104895489
|
0.00010
|
|
NM_001376.5(DYNC1H1):c.13315G>A (p.Glu4439Lys)
|
rs142883042
|
0.00010
|
|
NM_001376.5(DYNC1H1):c.13557G>A (p.Ala4519=)
|
rs35546990
|
0.00010
|
|
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=)
|
rs149902566
|
0.00010
|
|
NM_001376.5(DYNC1H1):c.7758C>T (p.Ala2586=)
|
rs145487328
|
0.00010
|
|
NM_001377299.1(NDUFS2):c.212C>T (p.Pro71Leu)
|
rs375650413
|
0.00010
|
|
NM_001378414.1(HDAC4):c.2346C>T (p.Cys782=)
|
rs144099208
|
0.00010
|
|
NM_001378454.1(ALMS1):c.3727G>C (p.Glu1243Gln)
|
rs372620412
|
0.00010
|
|
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp)
|
rs199615803
|
0.00010
|
|
NM_001378454.1(ALMS1):c.6537C>T (p.Thr2179=)
|
rs371511963
|
0.00010
|
|
NM_001378454.1(ALMS1):c.8883G>A (p.Pro2961=)
|
rs367862140
|
0.00010
|
|
NM_001378454.1(ALMS1):c.9600A>C (p.Ala3200=)
|
rs113808259
|
0.00010
|
|
NM_001378457.1(DMXL2):c.1290T>G (p.Asp430Glu)
|
rs775660410
|
0.00010
|
|
NM_001378615.1(CC2D2A):c.1947G>A (p.Thr649=)
|
rs756341605
|
0.00010
|
|
NM_001378615.1(CC2D2A):c.2117G>A (p.Arg706Gln)
|
rs778205727
|
0.00010
|
|
NM_001379110.1(SLC9A6):c.*12C>T
|
rs190788663
|
0.00010
|
|
NM_001379180.1(ESRRB):c.1177G>A (p.Glu393Lys)
|
rs747893418
|
0.00010
|
|
NM_001382347.1(MYO5A):c.1476T>C (p.Asn492=)
|
rs765320441
|
0.00010
|
|
NM_001384732.1(CPLANE1):c.1222C>T (p.Arg408Trp)
|
rs189796608
|
0.00010
|
|
NM_001384732.1(CPLANE1):c.5593A>C (p.Asn1865His)
|
rs199524299
|
0.00010
|
|
NM_001386393.1(PANK2):c.1065C>G (p.Gly355=)
|
rs564606657
|
0.00010
|
|
NM_001386795.1(DTNA):c.1086-321A>C
|
rs191973037
|
0.00010
|
|
NM_001395413.1(POR):c.1191G>A (p.Ser397=)
|
rs372401863
|
0.00010
|
|
NM_001395413.1(POR):c.1578G>A (p.Thr526=)
|
rs371795413
|
0.00010
|
|
NM_001414.4(EIF2B1):c.735C>T (p.Asp245=)
|
rs776489281
|
0.00010
|
|
NM_001458.5(FLNC):c.31G>A (p.Gly11Ser)
|
rs370512642
|
0.00010
|
|
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val)
|
rs200516164
|
0.00010
|
|
NM_001613.4(ACTA2):c.201G>C (p.Leu67=)
|
rs199773697
|
0.00010
|
|
NM_001711.6(BGN):c.1063G>A (p.Val355Ile)
|
rs201567818
|
0.00010
|
|
NM_001754.5(RUNX1):c.*4188G>C
|
rs761390141
|
0.00010
|
|
NM_001848.3(COL6A1):c.1437C>T (p.Gly479=)
|
rs762625409
|
0.00010
|
|
NM_001849.4(COL6A2):c.1269G>C (p.Pro423=)
|
rs144136807
|
0.00010
|
|
NM_001849.4(COL6A2):c.189G>A (p.Thr63=)
|
rs143583433
|
0.00010
|
|
NM_001851.6(COL9A1):c.462A>G (p.Val154=)
|
rs150571620
|
0.00010
|
|
NM_001853.4(COL9A3):c.1339G>A (p.Asp447Asn)
|
rs200153638
|
0.00010
|
|
NM_001854.4(COL11A1):c.2322G>A (p.Lys774=)
|
rs140608161
|
0.00010
|
|
NM_001875.5(CPS1):c.2696T>C (p.Met899Thr)
|
rs201340295
|
0.00010
|
|
NM_001875.5(CPS1):c.3796T>C (p.Phe1266Leu)
|
rs373841124
|
0.00010
|
|
NM_001876.4(CPT1A):c.1340G>A (p.Arg447Gln)
|
rs757593086
|
0.00010
|
|
NM_001943.5(DSG2):c.1597G>A (p.Val533Ile)
|
rs199761749
|
0.00010
|
|
NM_001966.4(EHHADH):c.1063G>A (p.Gly355Ser)
|
rs150744159
|
0.00010
|
|
NM_001999.4(FBN2):c.6681A>G (p.Thr2227=)
|
rs145681607
|
0.00010
|
|
NM_002230.4(JUP):c.608G>A (p.Arg203His)
|
rs200221163
|
0.00010
|
|
NM_002230.4(JUP):c.926A>G (p.Asn309Ser)
|
rs140606359
|
0.00010
|
|
NM_002335.4(LRP5):c.4643G>T (p.Cys1548Phe)
|
rs147618989
|
0.00010
|
|
NM_002439.5(MSH3):c.3000T>G (p.Asp1000Glu)
|
rs139205893
|
0.00010
|
|
NM_002439.5(MSH3):c.316C>G (p.Gln106Glu)
|
rs149350323
|
0.00010
|
|
NM_002454.3(MTRR):c.-26+14C>T
|
rs368193742
|
0.00010
|
|
NM_002454.3(MTRR):c.1020C>T (p.Cys340=)
|
rs201348649
|
0.00010
|
|
NM_002471.4(MYH6):c.1347G>T (p.Glu449Asp)
|
rs142059069
|
0.00010
|
|
NM_002471.4(MYH6):c.3343-3C>A
|
rs565446762
|
0.00010
|
|
NM_002473.6(MYH9):c.1149C>T (p.Thr383=)
|
rs143974891
|
0.00010
|
|
NM_002473.6(MYH9):c.2679C>A (p.Thr893=)
|
rs145476120
|
0.00010
|
|
NM_002474.3(MYH11):c.4809G>A (p.Thr1603=)
|
rs140577744
|
0.00010
|
|
NM_002474.3(MYH11):c.5406C>G (p.His1802Gln)
|
rs746211825
|
0.00010
|
|
NM_002529.4(NTRK1):c.711G>A (p.Thr237=)
|
rs537430475
|
0.00010
|
|
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg)
|
rs200407907
|
0.00010
|
|
NM_002693.3(POLG):c.2724C>T (p.Ala908=)
|
rs377390914
|
0.00010
|
|
NM_002768.5(CHMP1A):c.147C>T (p.Ala49=)
|
rs200606123
|
0.00010
|
|
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met)
|
rs202125074
|
0.00010
|
|
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys)
|
rs587780102
|
0.00010
|
|
NM_002880.4(RAF1):c.935T>C (p.Val312Ala)
|
rs370243307
|
0.00010
|
|
NM_002890.3(RASA1):c.2773A>G (p.Ile925Val)
|
rs140786299
|
0.00010
|
|
NM_003000.3(SDHB):c.113G>A (p.Arg38His)
|
rs143058777
|
0.00010
|
|
NM_003036.4(SKI):c.2141G>A (p.Arg714His)
|
rs754486257
|
0.00010
|
|
NM_003072.5(SMARCA4):c.2460C>T (p.Tyr820=)
|
rs372410282
|
0.00010
|
|
NM_003105.6(SORL1):c.4077C>T (p.Cys1359=)
|
rs145806727
|
0.00010
|
|
NM_003105.6(SORL1):c.5023C>T (p.Pro1675Ser)
|
rs200758028
|
0.00010
|
|
NM_003227.4(TFR2):c.1076T>A (p.Ile359Asn)
|
rs140020076
|
0.00010
|
|
NM_003239.5(TGFB3):c.873G>A (p.Pro291=)
|
rs370006165
|
0.00010
|
|
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu)
|
rs768385200
|
0.00010
|
|
NM_003280.3(TNNC1):c.210C>T (p.Gly70=)
|
rs141505676
|
0.00010
|
|
NM_003331.5(TYK2):c.1806C>T (p.Asn602=)
|
rs765576893
|
0.00010
|
|
NM_003384.3(VRK1):c.161-14A>G
|
rs375176918
|
0.00010
|
|
NM_003392.7(WNT5A):c.427G>A (p.Ala143Thr)
|
rs998033323
|
0.00010
|
|
NM_003482.4(KMT2D):c.6821C>T (p.Ser2274Leu)
|
rs767236217
|
0.00010
|
|
NM_003482.4(KMT2D):c.7109G>A (p.Arg2370His)
|
rs373234419
|
0.00010
|
|
NM_003491.4(NAA10):c.141C>T (p.Asp47=)
|
rs375877098
|
0.00010
|
|
NM_003560.4(PLA2G6):c.1725G>A (p.Thr575=)
|
rs200599704
|
0.00010
|
|
NM_003664.5(AP3B1):c.2340C>T (p.Ser780=)
|
rs199599147
|
0.00010
|
|
NM_003742.4(ABCB11):c.2783G>A (p.Arg928Gln)
|
rs200488448
|
0.00010
|
|
NM_004006.3(DMD):c.1318G>A (p.Glu440Lys)
|
rs189143447
|
0.00010
|
|
NM_004006.3(DMD):c.3432+10A>G
|
rs746260475
|
0.00010
|
|
NM_004006.3(DMD):c.3548G>C (p.Arg1183Thr)
|
rs374993642
|
0.00010
|
|
NM_004006.3(DMD):c.606C>T (p.Ile202=)
|
rs138335295
|
0.00010
|
|
NM_004006.3(DMD):c.7323T>C (p.Thr2441=)
|
rs201919981
|
0.00010
|
|
NM_004082.5(DCTN1):c.1997C>T (p.Thr666Met)
|
rs143914684
|
0.00010
|
|
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp)
|
rs121909344
|
0.00010
|
|
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys)
|
rs201711375
|
0.00010
|
|
NM_004239.4(TRIP11):c.1186+14G>A
|
rs371492052
|
0.00010
|
|
NM_004287.5(GOSR2):c.246T>C (p.Thr82=)
|
rs141380070
|
0.00010
|
|
NM_004304.5(ALK):c.3692G>A (p.Arg1231Gln)
|
rs200110351
|
0.00010
|
|
NM_004304.5(ALK):c.4028C>T (p.Thr1343Ile)
|
rs753763148
|
0.00010
|
|
NM_004369.4(COL6A3):c.2305G>A (p.Ala769Thr)
|
rs142719863
|
0.00010
|
|
NM_004369.4(COL6A3):c.3324C>T (p.Thr1108=)
|
rs116239777
|
0.00010
|
|
NM_004369.4(COL6A3):c.5394C>T (p.Arg1798=)
|
rs202086524
|
0.00010
|
|
NM_004369.4(COL6A3):c.543T>C (p.Asp181=)
|
rs898779231
|
0.00010
|
|
NM_004369.4(COL6A3):c.5968C>T (p.Arg1990Trp)
|
rs146546544
|
0.00010
|
|
NM_004415.4(DSP):c.1140+6T>C
|
rs534740669
|
0.00010
|
|
NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu)
|
rs751361395
|
0.00010
|
|
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile)
|
rs151115778
|
0.00010
|
|
NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp)
|
rs144641271
|
0.00010
|
|
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu)
|
rs149513743
|
0.00010
|
|
NM_004447.6(EPS8):c.670G>A (p.Val224Ile)
|
rs758506896
|
0.00010
|
|
NM_004493.3(HSD17B10):c.147C>G (p.Ala49=)
|
rs367982176
|
0.00010
|
|
NM_004525.3(LRP2):c.8112C>A (p.Ser2704=)
|
rs148473513
|
0.00010
|
|
NM_004525.3(LRP2):c.9066C>T (p.Ser3022=)
|
rs374380173
|
0.00010
|
|
NM_004526.4(MCM2):c.2379G>A (p.Met793Ile)
|
rs200244254
|
0.00010
|
|
NM_004629.2(FANCG):c.722C>T (p.Pro241Leu)
|
rs201438531
|
0.00010
|
|
NM_004817.4(TJP2):c.2961G>A (p.Pro987=)
|
rs371617466
|
0.00010
|
|
NM_004817.4(TJP2):c.334G>A (p.Ala112Thr)
|
rs144396411
|
0.00010
|
|
NM_004820.5(CYP7B1):c.850+5G>C
|
rs202155727
|
0.00010
|
|
NM_004960.4(FUS):c.661_663del (p.Ser221del)
|
rs746633090
|
0.00010
|
|
NM_004984.4(KIF5A):c.152G>A (p.Arg51His)
|
rs773336059
|
0.00010
|
|
NM_004984.4(KIF5A):c.1932G>A (p.Thr644=)
|
rs370644634
|
0.00010
|
|
NM_005045.4(RELN):c.5274G>T (p.Ala1758=)
|
rs139102992
|
0.00010
|
|
NM_005148.4(UNC119):c.600C>T (p.Ser200=)
|
rs142549864
|
0.00010
|
|
NM_005188.4(CBL):c.2312A>T (p.Asp771Val)
|
rs199788586
|
0.00010
|
|
NM_005359.6(SMAD4):c.21G>A (p.Thr7=)
|
rs142292491
|
0.00010
|
|
NM_005359.6(SMAD4):c.424+5G>A
|
rs200772603
|
0.00010
|
|
NM_005477.3(HCN4):c.3195C>A (p.Val1065=)
|
rs4493011
|
0.00010
|
|
NM_005529.7(HSPG2):c.1844G>A (p.Arg615His)
|
rs189089389
|
0.00010
|
|
NM_005548.3(KARS1):c.222+10C>T
|
rs374496494
|
0.00010
|
|
NM_005591.4(MRE11):c.529G>A (p.Ala177Thr)
|
rs142996063
|
0.00010
|
|
NM_005609.4(PYGM):c.606C>T (p.His202=)
|
rs79860859
|
0.00010
|
|
NM_005633.4(SOS1):c.3418T>A (p.Leu1140Ile)
|
rs375550588
|
0.00010
|
|
NM_005633.4(SOS1):c.553A>G (p.Ile185Val)
|
rs143962515
|
0.00010
|
|
NM_005732.4(RAD50):c.2548C>T (p.Arg850Cys)
|
rs181961360
|
0.00010
|
|
NM_005732.4(RAD50):c.3508G>A (p.Asp1170Asn)
|
rs397507179
|
0.00010
|
|
NM_005751.5(AKAP9):c.5035C>T (p.Arg1679Cys)
|
rs200044616
|
0.00010
|
|
NM_005876.5(SPEG):c.2439C>T (p.Pro813=)
|
rs372257767
|
0.00010
|
|
NM_005902.4(SMAD3):c.1092C>T (p.Tyr364=)
|
rs753875974
|
0.00010
|
|
NM_006012.4(CLPP):c.100C>T (p.Pro34Ser)
|
rs776759641
|
0.00010
|
|
NM_006031.6(PCNT):c.3749G>A (p.Arg1250Gln)
|
rs202005598
|
0.00010
|
|
NM_006031.6(PCNT):c.6635G>A (p.Arg2212Gln)
|
rs201503338
|
0.00010
|
|
NM_006118.4(HAX1):c.505-4G>A
|
rs186219647
|
0.00010
|
|
NM_006180.6(NTRK2):c.1288C>T (p.His430Tyr)
|
rs145968424
|
0.00010
|
|
NM_006204.4(PDE6C):c.2503G>A (p.Gly835Arg)
|
rs142876079
|
0.00010
|
|
NM_006206.6(PDGFRA):c.1099G>A (p.Val367Met)
|
rs147982027
|
0.00010
|
|
NM_006231.4(POLE):c.4450A>C (p.Ile1484Leu)
|
rs772734618
|
0.00010
|
|
NM_006231.4(POLE):c.6531+6G>T
|
rs774747998
|
0.00010
|
|
NM_006514.4(SCN10A):c.1661T>C (p.Leu554Pro)
|
rs138404783
|
0.00010
|
|
NM_006514.4(SCN10A):c.2554G>A (p.Glu852Lys)
|
rs375274122
|
0.00010
|
|
NM_006514.4(SCN10A):c.4396C>T (p.Gln1466Ter)
|
rs199931920
|
0.00010
|
|
NM_006517.5(SLC16A2):c.1502A>G (p.His501Arg)
|
rs140303247
|
0.00010
|
|
NM_006623.4(PHGDH):c.1543C>T (p.Leu515=)
|
rs148721434
|
0.00010
|
|
NM_006766.5(KAT6A):c.5740A>G (p.Met1914Val)
|
rs750315709
|
0.00010
|
|
NM_006892.4(DNMT3B):c.1804G>A (p.Val602Ile)
|
rs752495145
|
0.00010
|
|
NM_006922.4(SCN3A):c.1712G>A (p.Arg571His)
|
rs765013479
|
0.00010
|
|
NM_006939.4(SOS2):c.3289T>C (p.Ser1097Pro)
|
rs141214900
|
0.00010
|
|
NM_006947.4(SRP72):c.110-5T>G
|
rs186908289
|
0.00010
|
|
NM_006947.4(SRP72):c.1135A>G (p.Met379Val)
|
rs201095666
|
0.00010
|
|
NM_012193.4(FZD4):c.1589G>A (p.Gly530Glu)
|
rs201256460
|
0.00010
|
|
NM_012309.5(SHANK2):c.581C>T (p.Pro194Leu)
|
rs782210973
|
0.00010
|
|
NM_013296.5(GPSM2):c.505G>A (p.Glu169Lys)
|
rs775142959
|
0.00010
|
|
NM_014000.3(VCL):c.829C>A (p.Leu277Met)
|
rs71579353
|
0.00010
|
|
NM_014141.6(CNTNAP2):c.755-5C>T
|
rs369675346
|
0.00010
|
|
NM_014159.7(SETD2):c.1180T>C (p.Cys394Arg)
|
rs368465960
|
0.00010
|
|
NM_014208.3(DSPP):c.2874T>C (p.Asn958=)
|
rs374607352
|
0.00010
|
|
NM_014244.5(ADAMTS2):c.1431G>A (p.Ala477=)
|
rs147259971
|
0.00010
|
|
NM_014244.5(ADAMTS2):c.2085+8C>A
|
rs199825726
|
0.00010
|
|
NM_014244.5(ADAMTS2):c.423C>T (p.Gly141=)
|
rs755099137
|
0.00010
|
|
NM_014252.4(SLC25A15):c.278G>A (p.Arg93Gln)
|
rs369201060
|
0.00010
|
|
NM_014252.4(SLC25A15):c.861C>T (p.Tyr287=)
|
rs148422923
|
0.00010
|
|
NM_014339.7(IL17RA):c.625G>A (p.Val209Met)
|
rs534512644
|
0.00010
|
|
NM_014339.7(IL17RA):c.676G>C (p.Glu226Gln)
|
rs144085995
|
0.00010
|
|
NM_014363.6(SACS):c.2643G>C (p.Glu881Asp)
|
rs200517685
|
0.00010
|
|
NM_014384.3(ACAD8):c.567+12C>T
|
rs375812492
|
0.00010
|
|
NM_014844.5(TECPR2):c.3990C>T (p.Asn1330=)
|
rs757779692
|
0.00010
|
|
NM_014855.3(AP5Z1):c.1132+7C>T
|
rs775865217
|
0.00010
|
|
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser)
|
rs147136530
|
0.00010
|
|
NM_014918.5(CHSY1):c.489G>A (p.Lys163=)
|
rs146047900
|
0.00010
|
|
NM_014989.7(RIMS1):c.169G>C (p.Val57Leu)
|
rs200005095
|
0.00010
|
|
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp)
|
rs534723946
|
0.00010
|
|
NM_015046.7(SETX):c.4020G>T (p.Lys1340Asn)
|
rs368323660
|
0.00010
|
|
NM_015166.4(MLC1):c.95C>T (p.Ala32Val)
|
rs200382943
|
0.00010
|
|
NM_015175.3(NBEAL2):c.4211G>A (p.Arg1404His)
|
rs202066156
|
0.00010
|
|
NM_015215.4(CAMTA1):c.814G>A (p.Gly272Ser)
|
rs201816354
|
0.00010
|
|
NM_015270.5(ADCY6):c.1333C>A (p.His445Asn)
|
rs201102889
|
0.00010
|
|
NM_015335.5(MED13L):c.656C>T (p.Thr219Met)
|
rs191743300
|
0.00010
|
|
NM_015338.6(ASXL1):c.2537G>A (p.Ser846Asn)
|
rs148575778
|
0.00010
|
|
NM_015404.4(WHRN):c.1696G>C (p.Val566Leu)
|
rs189654215
|
0.00010
|
|
NM_015425.6(POLR1A):c.2969+8G>A
|
rs376999911
|
0.00010
|
|
NM_015512.5(DNAH1):c.4396C>T (p.Leu1466Phe)
|
rs368608665
|
0.00010
|
|
NM_015627.3(LDLRAP1):c.423C>T (p.Leu141=)
|
rs140170877
|
0.00010
|
|
NM_015884.4(MBTPS2):c.291G>A (p.Thr97=)
|
rs143335256
|
0.00010
|
|
NM_015909.4(NBAS):c.6827C>T (p.Thr2276Met)
|
rs144615326
|
0.00010
|
|
NM_016222.4(DDX41):c.38C>T (p.Thr13Ile)
|
rs61736559
|
0.00010
|
|
NM_016239.4(MYO15A):c.7533C>T (p.Pro2511=)
|
rs369717113
|
0.00010
|
|
NM_017534.6(MYH2):c.1566C>T (p.Ala522=)
|
rs142383679
|
0.00010
|
|
NM_017534.6(MYH2):c.1959G>A (p.Val653=)
|
rs376346567
|
0.00010
|
|
NM_017534.6(MYH2):c.2266G>A (p.Asp756Asn)
|
rs202198533
|
0.00010
|
|
NM_017617.5(NOTCH1):c.2636G>A (p.Arg879Gln)
|
rs368011392
|
0.00010
|
|
NM_017654.4(SAMD9):c.3215T>C (p.Leu1072Pro)
|
rs144312575
|
0.00010
|
|
NM_017668.3(NDE1):c.*164A>C
|
rs370252949
|
0.00010
|
|
NM_017763.6(RNF43):c.434G>A (p.Arg145Gln)
|
rs151209912
|
0.00010
|
|
NM_017777.4(MKS1):c.1435C>T (p.Arg479Cys)
|
rs769442220
|
0.00010
|
|
NM_017780.4(CHD7):c.6682G>A (p.Gly2228Arg)
|
rs200907656
|
0.00010
|
|
NM_017827.4(SARS2):c.1292G>A (p.Arg431His)
|
rs146193366
|
0.00010
|
|
NM_017841.4(SDHAF2):c.7G>T (p.Val3Leu)
|
rs149277592
|
0.00010
|
|
NM_017849.4(TMEM127):c.88A>G (p.Ser30Gly)
|
rs763476625
|
0.00010
|
|
NM_018060.4(IARS2):c.2360G>A (p.Arg787Gln)
|
rs189118525
|
0.00010
|
|
NM_018344.6(SLC29A3):c.855G>A (p.Ser285=)
|
rs566110994
|
0.00010
|
|
NM_018668.5(VPS33B):c.1105+10G>A
|
rs370555380
|
0.00010
|
|
NM_018699.4(PRDM5):c.1031-6T>A
|
rs753768741
|
0.00010
|
|
NM_018941.4(CLN8):c.725C>T (p.Thr242Met)
|
rs138821993
|
0.00010
|
|
NM_020366.4(RPGRIP1):c.2334T>C (p.Asp778=)
|
rs188318743
|
0.00010
|
|
NM_020549.5(CHAT):c.119G>T (p.Gly40Val)
|
rs776411377
|
0.00010
|
|
NM_020738.4(KIDINS220):c.2000T>C (p.Ile667Thr)
|
rs139252608
|
0.00010
|
|
NM_020738.4(KIDINS220):c.207+3A>G
|
rs374940372
|
0.00010
|
|
NM_020754.4(ARHGAP31):c.2216C>T (p.Pro739Leu)
|
rs200598971
|
0.00010
|
|
NM_020778.4(ALPK3):c.487A>G (p.Arg163Gly)
|
rs1008637055
|
0.00010
|
|
NM_020822.3(KCNT1):c.1995C>T (p.Ile665=)
|
rs757811625
|
0.00010
|
|
NM_020919.4(ALS2):c.331G>A (p.Val111Ile)
|
rs61745503
|
0.00010
|
|
NM_020987.5(ANK3):c.6945T>G (p.His2315Gln)
|
rs375411220
|
0.00010
|
|
NM_021830.5(TWNK):c.2015C>G (p.Pro672Arg)
|
rs199583659
|
0.00010
|
|
NM_022114.4(PRDM16):c.2223G>A (p.Thr741=)
|
rs756779855
|
0.00010
|
|
NM_022124.6(CDH23):c.3186C>A (p.Thr1062=)
|
rs201589645
|
0.00010
|
|
NM_022124.6(CDH23):c.3764A>T (p.Lys1255Met)
|
rs372158876
|
0.00010
|
|
NM_022124.6(CDH23):c.4704C>T (p.Thr1568=)
|
rs186866326
|
0.00010
|
|
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn)
|
rs191021194
|
0.00010
|
|
NM_022124.6(CDH23):c.8824G>A (p.Asp2942Asn)
|
rs371286324
|
0.00010
|
|
NM_022168.4(IFIH1):c.1312T>C (p.Ser438Pro)
|
rs139714761
|
0.00010
|
|
NM_022369.4(STRA6):c.1566G>T (p.Val522=)
|
rs886051474
|
0.00010
|
|
NM_022436.3(ABCG5):c.300C>G (p.Ser100=)
|
rs1212418813
|
0.00010
|
|
NM_022455.5(NSD1):c.3500G>A (p.Arg1167His)
|
rs763399938
|
0.00010
|
|
NM_022455.5(NSD1):c.4605C>T (p.Arg1535=)
|
rs140229717
|
0.00010
|
|
NM_022455.5(NSD1):c.4966+6G>A
|
rs373129093
|
0.00010
|
|
NM_022464.5(SIL1):c.849C>T (p.Leu283=)
|
rs372816951
|
0.00010
|
|
NM_022489.4(INF2):c.2489G>T (p.Gly830Val)
|
rs377340315
|
0.00010
|
|
NM_024306.5(FA2H):c.844G>A (p.Gly282Ser)
|
rs199815871
|
0.00010
|
|
NM_024334.3(TMEM43):c.169G>A (p.Ala57Thr)
|
rs151010429
|
0.00010
|
|
NM_024408.4(NOTCH2):c.2196A>C (p.Gly732=)
|
rs782101275
|
0.00010
|
|
NM_024422.6(DSC2):c.1721G>A (p.Ser574Asn)
|
rs150318400
|
0.00010
|
|
NM_024596.5(MCPH1):c.2274C>T (p.Asp758=)
|
rs186136373
|
0.00010
|
|
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu)
|
rs45619737
|
0.00010
|
|
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser)
|
rs146812823
|
0.00010
|
|
NM_025074.7(FRAS1):c.237T>C (p.Ala79=)
|
rs370345916
|
0.00010
|
|
NM_025074.7(FRAS1):c.4181G>C (p.Gly1394Ala)
|
rs376487875
|
0.00010
|
|
NM_025074.7(FRAS1):c.4729A>T (p.Thr1577Ser)
|
rs183594682
|
0.00010
|
|
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=)
|
rs371582975
|
0.00010
|
|
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala)
|
rs375817905
|
0.00010
|
|
NM_025152.3(NUBPL):c.256+6A>G
|
rs373055016
|
0.00010
|
|
NM_025219.3(DNAJC5):c.75C>T (p.Asn25=)
|
rs189308547
|
0.00010
|
|
NM_030777.4(SLC2A10):c.330C>T (p.Phe110=)
|
rs199848479
|
0.00010
|
|
NM_030962.4(SBF2):c.3056A>T (p.Gln1019Leu)
|
rs201964421
|
0.00010
|
|
NM_031433.4(MFRP):c.1256-4G>A
|
rs142533439
|
0.00010
|
|
NM_032119.4(ADGRV1):c.10768A>T (p.Ser3590Cys)
|
rs183319660
|
0.00010
|
|
NM_032119.4(ADGRV1):c.12373A>G (p.Ile4125Val)
|
rs766991551
|
0.00010
|
|
NM_032119.4(ADGRV1):c.1411G>C (p.Val471Leu)
|
rs190427962
|
0.00010
|
|
NM_032119.4(ADGRV1):c.155G>A (p.Arg52His)
|
rs199798095
|
0.00010
|
|
NM_032119.4(ADGRV1):c.17669T>A (p.Met5890Lys)
|
rs142905845
|
0.00010
|
|
NM_032119.4(ADGRV1):c.18001A>T (p.Met6001Leu)
|
rs200530343
|
0.00010
|
|
NM_032119.4(ADGRV1):c.3934G>A (p.Val1312Met)
|
rs199552258
|
0.00010
|
|
NM_032119.4(ADGRV1):c.466G>A (p.Ala156Thr)
|
rs201180985
|
0.00010
|
|
NM_032119.4(ADGRV1):c.5351G>A (p.Arg1784Lys)
|
rs748852381
|
0.00010
|
|
NM_032119.4(ADGRV1):c.8295G>T (p.Leu2765Phe)
|
rs141681122
|
0.00010
|
|
NM_032444.4(SLX4):c.73G>A (p.Gly25Arg)
|
rs201533738
|
0.00010
|
|
NM_032520.5(GNPTG):c.887G>A (p.Arg296Gln)
|
rs561640998
|
0.00010
|
|
NM_032578.4(MYPN):c.259C>G (p.Pro87Ala)
|
rs376945733
|
0.00010
|
|
NM_032601.4(MCEE):c.164T>C (p.Val55Ala)
|
rs374147386
|
0.00010
|
|
NM_032888.4(COL27A1):c.3262C>A (p.Pro1088Thr)
|
rs146162741
|
0.00010
|
|
NM_033109.5(PNPT1):c.1619A>G (p.Asn540Ser)
|
rs202190573
|
0.00010
|
|
NM_033109.5(PNPT1):c.40C>T (p.Arg14Trp)
|
rs199712282
|
0.00010
|
|
NM_033641.4(COL4A6):c.738G>C (p.Glu246Asp)
|
rs151224348
|
0.00010
|
|
NM_052859.4(RFT1):c.827-14T>C
|
rs571722733
|
0.00010
|
|
NM_053025.4(MYLK):c.1133G>A (p.Arg378His)
|
rs56378658
|
0.00010
|
|
NM_053025.4(MYLK):c.1631G>A (p.Arg544Gln)
|
rs146724203
|
0.00010
|
|
NM_053025.4(MYLK):c.2799G>A (p.Val933=)
|
rs144806671
|
0.00010
|
|
NM_057176.3(BSND):c.457G>A (p.Asp153Asn)
|
rs202128855
|
0.00010
|
|
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr)
|
rs28363307
|
0.00010
|
|
NM_058246.4(DNAJB6):c.602G>A (p.Arg201Lys)
|
rs373070679
|
0.00010
|
|
NM_078470.6(COX15):c.83G>C (p.Arg28Thr)
|
rs141066870
|
0.00010
|
|
NM_080680.3(COL11A2):c.2417G>A (p.Arg806His)
|
rs200552277
|
0.00010
|
|
NM_080680.3(COL11A2):c.4898G>A (p.Gly1633Asp)
|
rs143920565
|
0.00010
|
|
NM_080680.3(COL11A2):c.5071-7C>G
|
rs200548977
|
0.00010
|
|
NM_080916.3(DGUOK):c.-1G>A
|
rs754623273
|
0.00010
|
|
NM_080916.3(DGUOK):c.60G>A (p.Lys20=)
|
rs961313523
|
0.00010
|
|
NM_133259.4(LRPPRC):c.1253A>G (p.Asn418Ser)
|
rs373908553
|
0.00010
|
|
NM_133379.5(TTN):c.11169G>A (p.Thr3723=)
|
rs145004106
|
0.00010
|
|
NM_133379.5(TTN):c.16075A>G (p.Met5359Val)
|
rs372044281
|
0.00010
|
|
NM_133379.5(TTN):c.16282G>A (p.Val5428Met)
|
rs199565262
|
0.00010
|
|
NM_133379.5(TTN):c.16394G>A (p.Arg5465Gln)
|
rs148147002
|
0.00010
|
|
NM_133444.3(ZNF526):c.1675G>A (p.Ala559Thr)
|
rs200018551
|
0.00010
|
|
NM_133497.4(KCNV2):c.168G>A (p.Glu56=)
|
rs201975160
|
0.00010
|
|
NM_138694.4(PKHD1):c.1694-10C>G
|
rs745911880
|
0.00010
|
|
NM_138694.4(PKHD1):c.1849T>C (p.Tyr617His)
|
rs141177165
|
0.00010
|
|
NM_138694.4(PKHD1):c.6687T>C (p.Ser2229=)
|
rs148497044
|
0.00010
|
|
NM_139027.6(ADAMTS13):c.2167C>A (p.Gln723Lys)
|
rs138014548
|
0.00010
|
|
NM_139242.4(MTFMT):c.17G>C (p.Arg6Pro)
|
rs771777757
|
0.00010
|
|
NM_139343.3(BIN1):c.1047G>A (p.Pro349=)
|
rs148945502
|
0.00010
|
|
NM_139343.3(BIN1):c.942C>T (p.His314=)
|
rs370911793
|
0.00010
|
|
NM_144498.4(OSBPL2):c.128G>T (p.Arg43Met)
|
rs143116125
|
0.00010
|
|
NM_144687.4(NLRP12):c.236G>A (p.Arg79Gln)
|
rs144936138
|
0.00010
|
|
NM_144687.4(NLRP12):c.986G>A (p.Arg329Gln)
|
rs144287432
|
0.00010
|
|
NM_144992.5(VWA3B):c.3471G>A (p.Ala1157=)
|
rs146673560
|
0.00010
|
|
NM_152383.5(DIS3L2):c.108G>A (p.Lys36=)
|
rs371477071
|
0.00010
|
|
NM_152383.5(DIS3L2):c.2124C>T (p.Asp708=)
|
rs368518323
|
0.00010
|
|
NM_152564.5(VPS13B):c.3297A>C (p.Thr1099=)
|
rs200982547
|
0.00010
|
|
NM_152703.5(SAMD9L):c.2528G>A (p.Arg843Gln)
|
rs200160724
|
0.00010
|
|
NM_152783.5(D2HGDH):c.1306+15G>A
|
rs759068118
|
0.00010
|
|
NM_170784.3(MKKS):c.926G>A (p.Arg309His)
|
rs199939179
|
0.00010
|
|
NM_173354.5(SIK1):c.1457C>T (p.Ala486Val)
|
rs369897512
|
0.00010
|
|
NM_174934.4(SCN4B):c.617C>T (p.Ser206Leu)
|
rs140348243
|
0.00010
|
|
NM_175875.5(SIX5):c.1091G>T (p.Gly364Val)
|
rs752238132
|
0.00010
|
|
NM_178138.6(LHX3):c.198C>G (p.Ala66=)
|
rs190916587
|
0.00010
|
|
NM_182914.3(SYNE2):c.12381+6G>A
|
rs781486571
|
0.00010
|
|
NM_182961.4(SYNE1):c.10761C>T (p.Ser3587=)
|
rs201715967
|
0.00010
|
|
NM_182961.4(SYNE1):c.17175C>T (p.Thr5725=)
|
rs200002217
|
0.00010
|
|
NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=)
|
rs371017408
|
0.00010
|
|
NM_182961.4(SYNE1):c.8360C>T (p.Thr2787Met)
|
rs142676206
|
0.00010
|
|
NM_194248.3(OTOF):c.1732G>C (p.Val578Leu)
|
rs144907002
|
0.00010
|
|
NM_194248.3(OTOF):c.4642G>A (p.Glu1548Lys)
|
rs146982209
|
0.00010
|
|
NM_198506.5(LRIT3):c.710G>A (p.Arg237His)
|
rs150750727
|
0.00010
|
|
NM_198525.3(KIF7):c.3759C>G (p.Pro1253=)
|
rs147767277
|
0.00010
|
|
NM_198994.3(TGM6):c.835G>A (p.Gly279Arg)
|
rs375595045
|
0.00010
|
|
NM_201384.3(PLEC):c.10791C>T (p.Pro3597=)
|
rs537994918
|
0.00010
|
|
NM_201384.3(PLEC):c.11015G>C (p.Ser3672Thr)
|
rs782767733
|
0.00010
|
|
NM_201384.3(PLEC):c.13240C>T (p.Arg4414Cys)
|
rs200447944
|
0.00010
|
|
NM_201384.3(PLEC):c.13607C>T (p.Ser4536Leu)
|
rs781985768
|
0.00010
|
|
NM_201384.3(PLEC):c.13636G>A (p.Val4546Met)
|
rs573424409
|
0.00010
|
|
NM_201384.3(PLEC):c.2416C>T (p.Arg806Cys)
|
rs372400636
|
0.00010
|
|
NM_201384.3(PLEC):c.2458-7G>A
|
rs372799330
|
0.00010
|
|
NM_201384.3(PLEC):c.6657C>T (p.Ala2219=)
|
rs762600030
|
0.00010
|
|
NM_201525.4(ADGRG1):c.1371C>T (p.Ser457=)
|
rs747812668
|
0.00010
|
|
NM_201525.4(ADGRG1):c.26C>T (p.Thr9Met)
|
rs200241873
|
0.00010
|
|
NM_205850.3(SLC24A5):c.1025C>T (p.Ala342Val)
|
rs199924625
|
0.00010
|
|
NM_206933.4(USH2A):c.14531C>T (p.Thr4844Met)
|
rs200570742
|
0.00010
|
|
NM_206933.4(USH2A):c.15306C>T (p.Ala5102=)
|
rs149506333
|
0.00010
|
|
NM_206933.4(USH2A):c.3139C>G (p.Leu1047Val)
|
rs727503735
|
0.00010
|
|
NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile)
|
rs200790812
|
0.00010
|
|
NM_206933.4(USH2A):c.7541A>G (p.Asn2514Ser)
|
rs150060240
|
0.00010
|
|
NM_207122.2(EXT2):c.1916C>T (p.Thr639Met)
|
rs138722406
|
0.00010
|
|
NM_207361.6(FREM2):c.6333C>T (p.Gly2111=)
|
rs116763572
|
0.00010
|
|
NM_000017.4(ACADS):c.*4C>T
|
rs774815274
|
0.00009
|
|
NM_000017.4(ACADS):c.1108A>G (p.Met370Val)
|
rs566325901
|
0.00009
|
|
NM_000018.4(ACADVL):c.114G>C (p.Arg38=)
|
rs777380964
|
0.00009
|
|
NM_000020.3(ACVRL1):c.9G>A (p.Leu3=)
|
rs779236098
|
0.00009
|
|
NM_000021.4(PSEN1):c.1377A>G (p.Gln459=)
|
rs201496204
|
0.00009
|
|
NM_000022.4(ADA):c.714C>T (p.His238=)
|
rs577317154
|
0.00009
|
|
NM_000023.4(SGCA):c.764C>T (p.Pro255Leu)
|
rs138019537
|
0.00009
|
|
NM_000037.4(ANK1):c.1926C>T (p.Ala642=)
|
rs534680895
|
0.00009
|
|
NM_000037.4(ANK1):c.4136C>T (p.Pro1379Leu)
|
rs748160803
|
0.00009
|
|
NM_000037.4(ANK1):c.483G>A (p.Ala161=)
|
rs200639644
|
0.00009
|
|
NM_000038.6(APC):c.6525A>G (p.Thr2175=)
|
rs200151646
|
0.00009
|
|
NM_000038.6(APC):c.95A>G (p.Asn32Ser)
|
rs539108537
|
0.00009
|
|
NM_000046.5(ARSB):c.1122C>T (p.Phe374=)
|
rs149886659
|
0.00009
|
|
NM_000049.4(ASPA):c.906G>A (p.Thr302=)
|
rs371394875
|
0.00009
|
|
NM_000051.4(ATM):c.133C>T (p.Arg45Trp)
|
rs3218684
|
0.00009
|
|
NM_000051.4(ATM):c.2778A>G (p.Lys926=)
|
rs372569168
|
0.00009
|
|
NM_000051.4(ATM):c.332-3T>C
|
rs376116157
|
0.00009
|
|
NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr)
|
rs2229021
|
0.00009
|
|
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val)
|
rs539676759
|
0.00009
|
|
NM_000051.4(ATM):c.5005+7_5005+8del
|
rs587780626
|
0.00009
|
|
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)
|
rs145053092
|
0.00009
|
|
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr)
|
rs567060474
|
0.00009
|
|
NM_000051.4(ATM):c.7757A>G (p.Asn2586Ser)
|
rs587778079
|
0.00009
|
|
NM_000051.4(ATM):c.8851-3T>G
|
rs748874219
|
0.00009
|
|
NM_000052.7(ATP7A):c.1385C>T (p.Pro462Leu)
|
rs201999500
|
0.00009
|
|
NM_000052.7(ATP7A):c.3623G>T (p.Arg1208Ile)
|
rs146392305
|
0.00009
|
|
NM_000053.4(ATP7B):c.2994C>T (p.Gly998=)
|
rs373102009
|
0.00009
|
|
NM_000053.4(ATP7B):c.3416C>G (p.Ala1139Gly)
|
rs199924281
|
0.00009
|
|
NM_000053.4(ATP7B):c.610A>G (p.Met204Val)
|
rs200605351
|
0.00009
|
|
NM_000057.4(BLM):c.2293G>A (p.Val765Ile)
|
rs191789336
|
0.00009
|
|
NM_000057.4(BLM):c.2739C>T (p.Leu913=)
|
rs759223856
|
0.00009
|
|
NM_000059.4(BRCA2):c.10087A>G (p.Ile3363Val)
|
rs55881945
|
0.00009
|
|
NM_000059.4(BRCA2):c.1568A>G (p.His523Arg)
|
rs80358443
|
0.00009
|
|
NM_000059.4(BRCA2):c.2233A>G (p.Lys745Glu)
|
rs374691587
|
0.00009
|
|
NM_000059.4(BRCA2):c.3218A>G (p.Gln1073Arg)
|
rs80358566
|
0.00009
|
|
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser)
|
rs80358572
|
0.00009
|
|
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=)
|
rs45520945
|
0.00009
|
|
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser)
|
rs80358768
|
0.00009
|
|
NM_000059.4(BRCA2):c.6338A>G (p.Asn2113Ser)
|
rs80358874
|
0.00009
|
|
NM_000059.4(BRCA2):c.6475C>G (p.Gln2159Glu)
|
rs398122558
|
0.00009
|
|
NM_000059.4(BRCA2):c.7006C>T (p.Arg2336Cys)
|
rs431825347
|
0.00009
|
|
NM_000059.4(BRCA2):c.7435+23A>G
|
rs761412178
|
0.00009
|
|
NM_000059.4(BRCA2):c.7601C>T (p.Ala2534Val)
|
rs74047012
|
0.00009
|
|
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile)
|
rs80359069
|
0.00009
|
|
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu)
|
rs56121817
|
0.00009
|
|
NM_000063.6(C2):c.345C>T (p.Phe115=)
|
rs138358319
|
0.00009
|
|
NM_000069.3(CACNA1S):c.3664G>A (p.Val1222Ile)
|
rs202240111
|
0.00009
|
|
NM_000070.3(CAPN3):c.2269C>T (p.His757Tyr)
|
rs148246325
|
0.00009
|
|
NM_000080.4(CHRNE):c.465C>T (p.Phe155=)
|
rs139625105
|
0.00009
|
|
NM_000081.4(LYST):c.281C>T (p.Thr94Ile)
|
rs777389303
|
0.00009
|
|
NM_000088.4(COL1A1):c.3196C>T (p.Arg1066Cys)
|
rs72654799
|
0.00009
|
|
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg)
|
rs371344739
|
0.00009
|
|
NM_000090.4(COL3A1):c.3694G>A (p.Asp1232Asn)
|
rs147663769
|
0.00009
|
|
NM_000091.5(COL4A3):c.25C>T (p.Pro9Ser)
|
rs890999119
|
0.00009
|
|
NM_000091.5(COL4A3):c.2662G>A (p.Asp888Asn)
|
rs376762135
|
0.00009
|
|
NM_000091.5(COL4A3):c.3255G>A (p.Met1085Ile)
|
rs374427586
|
0.00009
|
|
NM_000091.5(COL4A3):c.494T>C (p.Ile165Thr)
|
rs144036466
|
0.00009
|
|
NM_000092.5(COL4A4):c.1664C>T (p.Ala555Val)
|
rs371066387
|
0.00009
|
|
NM_000092.5(COL4A4):c.2171G>A (p.Arg724His)
|
rs200146486
|
0.00009
|
|
NM_000092.5(COL4A4):c.3914C>T (p.Pro1305Leu)
|
rs746621296
|
0.00009
|
|
NM_000092.5(COL4A4):c.3995C>T (p.Pro1332Leu)
|
rs200860702
|
0.00009
|
|
NM_000093.5(COL5A1):c.804C>T (p.Gly268=)
|
rs147729713
|
0.00009
|
|
NM_000094.4(COL7A1):c.3343G>C (p.Gly1115Arg)
|
rs200235451
|
0.00009
|
|
NM_000094.4(COL7A1):c.4135C>T (p.Arg1379Cys)
|
rs200802373
|
0.00009
|
|
NM_000112.4(SLC26A2):c.1761C>T (p.Leu587=)
|
rs745590895
|
0.00009
|
|
NM_000124.4(ERCC6):c.879A>T (p.Arg293Ser)
|
rs563356062
|
0.00009
|
|
NM_000127.3(EXT1):c.1674A>G (p.Thr558=)
|
rs202051061
|
0.00009
|
|
NM_000128.4(F11):c.1059C>T (p.Asn353=)
|
rs766026346
|
0.00009
|
|
NM_000128.4(F11):c.486-10T>A
|
rs370991682
|
0.00009
|
|
NM_000135.4(FANCA):c.1371G>T (p.Gly457=)
|
rs369988875
|
0.00009
|
|
NM_000135.4(FANCA):c.189+12C>G
|
rs753101174
|
0.00009
|
|
NM_000135.4(FANCA):c.1900+7T>A
|
rs377401016
|
0.00009
|
|
NM_000135.4(FANCA):c.2662G>A (p.Val888Ile)
|
rs774863156
|
0.00009
|
|
NM_000135.4(FANCA):c.3138C>T (p.His1046=)
|
rs150884376
|
0.00009
|
|
NM_000135.4(FANCA):c.3999C>T (p.Phe1333=)
|
rs774576283
|
0.00009
|
|
NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp)
|
rs139478274
|
0.00009
|
|
NM_000138.5(FBN1):c.1345G>A (p.Val449Ile)
|
rs139058991
|
0.00009
|
|
NM_000138.5(FBN1):c.396T>C (p.Asp132=)
|
rs147481356
|
0.00009
|
|
NM_000138.5(FBN1):c.4342G>A (p.Asp1448Asn)
|
rs371377334
|
0.00009
|
|
NM_000138.5(FBN1):c.5225-13T>G
|
rs367786211
|
0.00009
|
|
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val)
|
rs143677764
|
0.00009
|
|
NM_000143.4(FH):c.*102T>C
|
rs200093224
|
0.00009
|
|
NM_000144.5(FXN):c.384+8T>C
|
rs367974156
|
0.00009
|
|
NM_000152.5(GAA):c.1482A>G (p.Thr494=)
|
rs202064115
|
0.00009
|
|
NM_000152.5(GAA):c.664G>A (p.Val222Met)
|
rs374569672
|
0.00009
|
|
NM_000152.5(GAA):c.711G>A (p.Ala237=)
|
rs368328598
|
0.00009
|
|
NM_000153.4(GALC):c.1803A>G (p.Ala601=)
|
rs372465848
|
0.00009
|
|
NM_000154.2(GALK1):c.1116C>T (p.Tyr372=)
|
rs763195503
|
0.00009
|
|
NM_000156.6(GAMT):c.587C>T (p.Ala196Val)
|
rs565109128
|
0.00009
|
|
NM_000169.3(GLA):c.865A>G (p.Ile289Val)
|
rs140329381
|
0.00009
|
|
NM_000169.3(GLA):c.945C>T (p.Asp315=)
|
rs151208856
|
0.00009
|
|
NM_000171.4(GLRA1):c.50T>C (p.Phe17Ser)
|
rs376426309
|
0.00009
|
|
NM_000179.3(MSH6):c.1063G>A (p.Gly355Ser)
|
rs587778531
|
0.00009
|
|
NM_000179.3(MSH6):c.1730G>A (p.Arg577His)
|
rs376220212
|
0.00009
|
|
NM_000179.3(MSH6):c.3439-10T>A
|
rs730881819
|
0.00009
|
|
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)
|
rs147453999
|
0.00009
|
|
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp)
|
rs1800938
|
0.00009
|
|
NM_000182.5(HADHA):c.2147-8C>G
|
rs368976628
|
0.00009
|
|
NM_000187.4(HGD):c.1206A>G (p.Ser402=)
|
rs140500816
|
0.00009
|
|
NM_000199.5(SGSH):c.417G>A (p.Thr139=)
|
rs142729872
|
0.00009
|
|
NM_000199.5(SGSH):c.506+9C>T
|
rs376523398
|
0.00009
|
|
NM_000199.5(SGSH):c.636C>T (p.Pro212=)
|
rs771680187
|
0.00009
|
|
NM_000206.3(IL2RG):c.1042G>A (p.Ala348Thr)
|
rs140216601
|
0.00009
|
|
NM_000211.5(ITGB2):c.729C>T (p.Val243=)
|
rs199735877
|
0.00009
|
|
NM_000214.3(JAG1):c.1335G>A (p.Gln445=)
|
rs759545669
|
0.00009
|
|
NM_000215.4(JAK3):c.2097G>A (p.Ala699=)
|
rs571402316
|
0.00009
|
|
NM_000215.4(JAK3):c.2391A>G (p.Ala797=)
|
rs199910484
|
0.00009
|
|
NM_000215.4(JAK3):c.3183G>T (p.Pro1061=)
|
rs369402343
|
0.00009
|
|
NM_000218.3(KCNQ1):c.328G>A (p.Val110Ile)
|
rs199472677
|
0.00009
|
|
NM_000222.3(KIT):c.1694G>T (p.Gly565Val)
|
rs200945282
|
0.00009
|
|
NM_000231.3(SGCG):c.497G>A (p.Arg166Gln)
|
rs776289036
|
0.00009
|
|
NM_000231.3(SGCG):c.506-7T>G
|
rs774582375
|
0.00009
|
|
NM_000238.4(KCNH2):c.3203A>G (p.Gln1068Arg)
|
rs151031345
|
0.00009
|
|
NM_000245.4(MET):c.110T>C (p.Val37Ala)
|
rs201315884
|
0.00009
|
|
NM_000245.4(MET):c.2318C>T (p.Pro773Leu)
|
rs771333219
|
0.00009
|
|
NM_000249.4(MLH1):c.1709A>G (p.Asn570Ser)
|
rs375853155
|
0.00009
|
|
NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg)
|
rs63750876
|
0.00009
|
|
NM_000251.2(MSH2):c.-73G>A
|
rs552303079
|
0.00009
|
|
NM_000251.3(MSH2):c.114C>G (p.Asp38Glu)
|
rs587779074
|
0.00009
|
|
NM_000251.3(MSH2):c.1505A>G (p.Asp502Gly)
|
rs148192104
|
0.00009
|
|
NM_000251.3(MSH2):c.317G>A (p.Arg106Lys)
|
rs41295286
|
0.00009
|
|
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro)
|
rs63751107
|
0.00009
|
|
NM_000257.4(MYH7):c.2183C>T (p.Ala728Val)
|
rs121913644
|
0.00009
|
|
NM_000257.4(MYH7):c.4423C>T (p.Arg1475Cys)
|
rs139646545
|
0.00009
|
|
NM_000257.4(MYH7):c.5559+5G>A
|
rs371177871
|
0.00009
|
|
NM_000260.4(MYO7A):c.2088C>T (p.Tyr696=)
|
rs781964494
|
0.00009
|
|
NM_000260.4(MYO7A):c.2915G>A (p.Arg972Gln)
|
rs782426472
|
0.00009
|
|
NM_000260.4(MYO7A):c.3750+7G>A
|
rs397516305
|
0.00009
|
|
NM_000260.4(MYO7A):c.3978C>T (p.Cys1326=)
|
rs111033376
|
0.00009
|
|
NM_000260.4(MYO7A):c.549G>A (p.Ser183=)
|
rs188198404
|
0.00009
|
|
NM_000260.4(MYO7A):c.6209G>A (p.Arg2070Gln)
|
rs397516328
|
0.00009
|
|
NM_000264.5(PTCH1):c.3816C>T (p.Pro1272=)
|
rs369295226
|
0.00009
|
|
NM_000268.4(NF2):c.879T>C (p.Asn293=)
|
rs151198477
|
0.00009
|
|
NM_000271.5(NPC1):c.2775C>T (p.Asn925=)
|
rs147419225
|
0.00009
|
|
NM_000274.4(OAT):c.1015-5C>T
|
rs764963374
|
0.00009
|
|
NM_000275.3(OCA2):c.1479T>G (p.Val493=)
|
rs374434751
|
0.00009
|
|
NM_000275.3(OCA2):c.2245-6C>A
|
rs368772032
|
0.00009
|
|
NM_000275.3(OCA2):c.2432+11A>G
|
rs145577954
|
0.00009
|
|
NM_000277.3(PAH):c.60+9C>T
|
rs369454152
|
0.00009
|
|
NM_000283.4(PDE6B):c.967G>A (p.Gly323Ser)
|
rs140224236
|
0.00009
|
|
NM_000293.3(PHKB):c.491A>G (p.Tyr164Cys)
|
rs144211929
|
0.00009
|
|
NM_000302.4(PLOD1):c.1203-3C>T
|
rs376288573
|
0.00009
|
|
NM_000304.4(PMP22):c.177C>T (p.Asn59=)
|
rs376797385
|
0.00009
|
|
NM_000314.6(PTEN):c.-920G>A
|
rs786204937
|
0.00009
|
|
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu)
|
rs371387815
|
0.00009
|
|
NM_000317.3(PTS):c.174A>G (p.Thr58=)
|
rs745627441
|
0.00009
|
|
NM_000321.3(RB1):c.1862G>A (p.Arg621His)
|
rs373601944
|
0.00009
|
|
NM_000321.3(RB1):c.628G>T (p.Asp210Tyr)
|
rs148992508
|
0.00009
|
|
NM_000330.4(RS1):c.185-3213A>C
|
rs143243059
|
0.00009
|
|
NM_000334.4(SCN4A):c.2220G>A (p.Pro740=)
|
rs368278422
|
0.00009
|
|
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp)
|
rs759982229
|
0.00009
|
|
NM_000334.4(SCN4A):c.4282A>G (p.Ile1428Val)
|
rs368822028
|
0.00009
|
|
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His)
|
rs146848219
|
0.00009
|
|
NM_000335.5(SCN5A):c.3724G>A (p.Asp1242Asn)
|
rs199473599
|
0.00009
|
|
NM_000335.5(SCN5A):c.4325A>G (p.Asn1442Ser)
|
rs1473144775
|
0.00009
|
|
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile)
|
rs199473278
|
0.00009
|
|
NM_000341.4(SLC3A1):c.1717T>C (p.Leu573=)
|
rs148703534
|
0.00009
|
|
NM_000341.4(SLC3A1):c.1889G>A (p.Gly630Asp)
|
rs150557210
|
0.00009
|
|
NM_000350.3(ABCA4):c.573C>T (p.Phe191=)
|
rs374454045
|
0.00009
|
|
NM_000350.3(ABCA4):c.6340G>A (p.Val2114Met)
|
rs202127235
|
0.00009
|
|
NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu)
|
rs190540405
|
0.00009
|
|
NM_000352.6(ABCC8):c.1189A>C (p.Asn397His)
|
rs199763382
|
0.00009
|
|
NM_000352.6(ABCC8):c.2544C>T (p.Asn848=)
|
rs144200345
|
0.00009
|
|
NM_000359.3(TGM1):c.177C>T (p.Asp59=)
|
rs8193031
|
0.00009
|
|
NM_000368.5(TSC1):c.1438+6G>A
|
rs118203530
|
0.00009
|
|
NM_000371.4(TTR):c.354C>T (p.Asn118=)
|
rs11541797
|
0.00009
|
|
NM_000376.3(VDR):c.156G>T (p.Met52Ile)
|
rs200041268
|
0.00009
|
|
NM_000377.3(WAS):c.803G>A (p.Arg268Gln)
|
rs376560886
|
0.00009
|
|
NM_000384.3(APOB):c.10295A>G (p.Gln3432Arg)
|
rs759043889
|
0.00009
|
|
NM_000384.3(APOB):c.3972G>T (p.Lys1324Asn)
|
rs775070656
|
0.00009
|
|
NM_000392.5(ABCC2):c.3834G>A (p.Val1278=)
|
rs150472537
|
0.00009
|
|
NM_000396.4(CTSK):c.22C>T (p.Leu8=)
|
rs138360770
|
0.00009
|
|
NM_000396.4(CTSK):c.244-10_244-8del
|
rs774922287
|
0.00009
|
|
NM_000426.4(LAMA2):c.2736G>A (p.Ala912=)
|
rs142671449
|
0.00009
|
|
NM_000426.4(LAMA2):c.5317C>T (p.Arg1773Trp)
|
rs138695453
|
0.00009
|
|
NM_000426.4(LAMA2):c.8223G>A (p.Thr2741=)
|
rs150596964
|
0.00009
|
|
NM_000428.3(LTBP2):c.1301C>T (p.Pro434Leu)
|
rs371940681
|
0.00009
|
|
NM_000428.3(LTBP2):c.1686+8C>G
|
rs563097395
|
0.00009
|
|
NM_000431.4(MVK):c.591C>T (p.His197=)
|
rs104895329
|
0.00009
|
|
NM_000432.4(MYL2):c.359G>A (p.Arg120Gln)
|
rs192057022
|
0.00009
|
|
NM_000435.3(NOTCH3):c.3421G>A (p.Val1141Met)
|
rs373181668
|
0.00009
|
|
NM_000435.3(NOTCH3):c.5900T>C (p.Met1967Thr)
|
rs377589088
|
0.00009
|
|
NM_000435.3(NOTCH3):c.6239G>A (p.Arg2080Gln)
|
rs759896413
|
0.00009
|
|
NM_000441.2(SLC26A4):c.1796C>T (p.Ala599Val)
|
rs201709908
|
0.00009
|
|
NM_000441.2(SLC26A4):c.61A>G (p.Met21Val)
|
rs375716219
|
0.00009
|
|
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile)
|
rs727505080
|
0.00009
|
|
NM_000452.3(SLC10A2):c.363C>T (p.Gly121=)
|
rs143992162
|
0.00009
|
|
NM_000458.4(HNF1B):c.1578C>G (p.Ser526=)
|
rs751225159
|
0.00009
|
|
NM_000458.4(HNF1B):c.1637T>C (p.Met546Thr)
|
rs551889844
|
0.00009
|
|
NM_000458.4(HNF1B):c.1654-9T>A
|
rs200579660
|
0.00009
|
|
NM_000460.4(THPO):c.-7G>A
|
rs140178375
|
0.00009
|
|
NM_000463.3(UGT1A1):c.189C>T (p.Asp63=)
|
rs191471887
|
0.00009
|
|
NM_000465.4(BARD1):c.1127C>T (p.Ser376Leu)
|
rs587782333
|
0.00009
|
|
NM_000465.4(BARD1):c.1694G>A (p.Arg565His)
|
rs146946984
|
0.00009
|
|
NM_000465.4(BARD1):c.2116A>G (p.Lys706Glu)
|
rs149262370
|
0.00009
|
|
NM_000481.4(AMT):c.589G>C (p.Asp197His)
|
rs200550585
|
0.00009
|
|
NM_000488.4(SERPINC1):c.299A>G (p.Asp100Gly)
|
rs369524182
|
0.00009
|
|
NM_000489.6(ATRX):c.1606A>G (p.Met536Val)
|
rs781865069
|
0.00009
|
|
NM_000489.6(ATRX):c.3527A>T (p.Lys1176Met)
|
rs191563592
|
0.00009
|
|
NM_000492.4(CFTR):c.1731C>T (p.Tyr577=)
|
rs55928397
|
0.00009
|
|
NM_000492.4(CFTR):c.3564G>A (p.Ser1188=)
|
rs146804928
|
0.00009
|
|
NM_000492.4(CFTR):c.3718-24G>A
|
rs374013084
|
0.00009
|
|
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp)
|
rs4148725
|
0.00009
|
|
NM_000506.5(F2):c.317-4G>A
|
rs375713715
|
0.00009
|
|
NM_000512.5(GALNS):c.857C>T (p.Thr286Met)
|
rs137927658
|
0.00009
|
|
NM_000515.5(GH1):c.387C>T (p.Tyr129=)
|
rs370785603
|
0.00009
|
|
NM_000516.7(GNAS):c.585+6C>T
|
rs373084986
|
0.00009
|
|
NM_000518.4(HBB):c.-132G>T
|
rs887821047
|
0.00009
|
|
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser)
|
rs200936836
|
0.00009
|
|
NM_000527.5(LDLR):c.1538G>A (p.Arg513Lys)
|
rs879254934
|
0.00009
|
|
NM_000527.5(LDLR):c.1586+15C>T
|
rs371716068
|
0.00009
|
|
NM_000528.4(MAN2B1):c.474C>T (p.Asn158=)
|
rs146331898
|
0.00009
|
|
NM_000528.4(MAN2B1):c.744G>A (p.Pro248=)
|
rs3745649
|
0.00009
|
|
NM_000532.5(PCCB):c.1215C>T (p.Tyr405=)
|
rs191375566
|
0.00009
|
|
NM_000535.7(PMS2):c.993C>T (p.Cys331=)
|
rs186577215
|
0.00009
|
|
NM_000540.3(RYR1):c.10824+8G>A
|
rs374325589
|
0.00009
|
|
NM_000540.3(RYR1):c.13849G>A (p.Gly4617Arg)
|
rs202226983
|
0.00009
|
|
NM_000540.3(RYR1):c.15015G>A (p.Thr5005=)
|
rs2229149
|
0.00009
|
|
NM_000540.3(RYR1):c.1593C>T (p.Gly531=)
|
rs927675372
|
0.00009
|
|
NM_000540.3(RYR1):c.4185C>T (p.Val1395=)
|
rs761955179
|
0.00009
|
|
NM_000540.3(RYR1):c.4763C>T (p.Pro1588Leu)
|
rs151029675
|
0.00009
|
|
NM_000540.3(RYR1):c.5321C>T (p.Pro1774Leu)
|
rs199837883
|
0.00009
|
|
NM_000540.3(RYR1):c.6549-9C>T
|
rs370994573
|
0.00009
|
|
NM_000540.3(RYR1):c.9063G>A (p.Pro3021=)
|
rs200068725
|
0.00009
|
|
NM_000541.5(SAG):c.474A>G (p.Thr158=)
|
rs886042737
|
0.00009
|
|
NM_000541.5(SAG):c.843G>A (p.Thr281=)
|
rs374774483
|
0.00009
|
|
NM_000545.8(HNF1A):c.142G>A (p.Glu48Lys)
|
rs772222326
|
0.00009
|
|
NM_000546.6(TP53):c.847C>T (p.Arg283Cys)
|
rs149633775
|
0.00009
|
|
NM_000546.6(TP53):c.993+13G>C
|
rs369599972
|
0.00009
|
|
NM_000548.5(TSC2):c.5142G>A (p.Gln1714=)
|
rs147147042
|
0.00009
|
|
NM_000601.6(HGF):c.270T>C (p.Asp90=)
|
rs145598174
|
0.00009
|
|
NM_000642.3(AGL):c.2930G>A (p.Arg977Gln)
|
rs147977213
|
0.00009
|
|
NM_000709.4(BCKDHA):c.1252G>A (p.Ala418Thr)
|
rs368567109
|
0.00009
|
|
NM_000717.5(CA4):c.415A>T (p.Met139Leu)
|
rs185658468
|
0.00009
|
|
NM_000719.7(CACNA1C):c.1341C>T (p.Ile447=)
|
rs377643814
|
0.00009
|
|
NM_000719.7(CACNA1C):c.3969C>T (p.Ile1323=)
|
rs201345843
|
0.00009
|
|
NM_000719.7(CACNA1C):c.459C>T (p.Asn153=)
|
rs367638447
|
0.00009
|
|
NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=)
|
rs563090568
|
0.00009
|
|
NM_000719.7(CACNA1C):c.6116C>G (p.Ala2039Gly)
|
rs549476254
|
0.00009
|
|
NM_000719.7(CACNA1C):c.927A>G (p.Ala309=)
|
rs369079645
|
0.00009
|
|
NM_000726.5(CACNB4):c.1031G>A (p.Arg344Gln)
|
rs776608168
|
0.00009
|
|
NM_000744.7(CHRNA4):c.729G>A (p.Pro243=)
|
rs121912253
|
0.00009
|
|
NM_000751.3(CHRND):c.480C>T (p.Phe160=)
|
rs200986300
|
0.00009
|
|
NM_000781.3(CYP11A1):c.269+4A>G
|
rs199573967
|
0.00009
|
|
NM_000836.4(GRIN2D):c.412T>G (p.Ser138Ala)
|
rs943958169
|
0.00009
|
|
NM_001005361.3(DNM2):c.633C>T (p.Asp211=)
|
rs200191870
|
0.00009
|
|
NM_001005373.4(LRSAM1):c.1153G>A (p.Val385Ile)
|
rs373570877
|
0.00009
|
|
NM_001005373.4(LRSAM1):c.1422+15T>A
|
rs372509526
|
0.00009
|
|
NM_001005373.4(LRSAM1):c.1772C>T (p.Ala591Val)
|
rs139344911
|
0.00009
|
|
NM_001008212.2(OPTN):c.1401+4A>G
|
rs371470839
|
0.00009
|
|
NM_001009944.3(PKD1):c.12473T>C (p.Met4158Thr)
|
rs201035636
|
0.00009
|
|
NM_001025603.2(RFX5):c.1830C>G (p.Asp610Glu)
|
rs141889707
|
0.00009
|
|
NM_001035.3(RYR2):c.2828T>C (p.Leu943Ser)
|
rs373665895
|
0.00009
|
|
NM_001035.3(RYR2):c.3598+13T>C
|
rs145104355
|
0.00009
|
|
NM_001035.3(RYR2):c.4044G>A (p.Lys1348=)
|
rs755391572
|
0.00009
|
|
NM_001035.3(RYR2):c.4273A>G (p.Thr1425Ala)
|
rs776046135
|
0.00009
|
|
NM_001035.3(RYR2):c.463+9C>T
|
rs559545973
|
0.00009
|
|
NM_001035.3(RYR2):c.6441-8C>G
|
rs770177812
|
0.00009
|
|
NM_001035.3(RYR2):c.7511C>T (p.Thr2504Met)
|
rs769219555
|
0.00009
|
|
NM_001039958.2(MESP2):c.168T>G (p.Pro56=)
|
rs894593728
|
0.00009
|
|
NM_001040108.2(MLH3):c.2356G>A (p.Val786Ile)
|
rs372089146
|
0.00009
|
|
NM_001040142.2(SCN2A):c.3579C>A (p.Leu1193=)
|
rs367546924
|
0.00009
|
|
NM_001040436.3(YARS2):c.202G>A (p.Gly68Ser)
|
rs150304121
|
0.00009
|
|
NM_001042472.3(ABHD12):c.118C>G (p.Leu40Val)
|
rs746196586
|
0.00009
|
|
NM_001042492.3(NF1):c.4724+11A>G
|
rs368649260
|
0.00009
|
|
NM_001042492.3(NF1):c.4836-3T>C
|
rs372460369
|
0.00009
|
|
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys)
|
rs368654378
|
0.00009
|
|
NM_001042492.3(NF1):c.5757G>A (p.Glu1919=)
|
rs141077224
|
0.00009
|
|
NM_001048174.2(MUTYH):c.1171G>A (p.Ala391Thr)
|
rs587780744
|
0.00009
|
|
NM_001048174.2(MUTYH):c.606+14C>G
|
rs752537118
|
0.00009
|
|
NM_001048174.2(MUTYH):c.612C>T (p.Thr204=)
|
rs780747266
|
0.00009
|
|
NM_001048174.2(MUTYH):c.836G>A (p.Arg279Gln)
|
rs140156029
|
0.00009
|
|
NM_001065.4(TNFRSF1A):c.887G>C (p.Ser296Thr)
|
rs770324989
|
0.00009
|
|
NM_001077365.2(POMT1):c.1149C>T (p.His383=)
|
rs202121299
|
0.00009
|
|
NM_001077653.2(TBX20):c.1331C>T (p.Thr444Met)
|
rs201217462
|
0.00009
|
|
NM_001079668.3(NKX2-1):c.1106C>T (p.Ala369Val)
|
rs537209983
|
0.00009
|
|
NM_001079802.2(FKTN):c.1172+13T>C
|
rs768792475
|
0.00009
|
|
NM_001080.3(ALDH5A1):c.32G>A (p.Gly11Glu)
|
rs373315916
|
0.00009
|
|
NM_001080.3(ALDH5A1):c.727-13T>G
|
rs187404409
|
0.00009
|
|
NM_001080517.3(SETD5):c.2299C>T (p.Arg767Cys)
|
rs183911558
|
0.00009
|
|
NM_001083116.3(PRF1):c.1153C>T (p.Arg385Trp)
|
rs551046401
|
0.00009
|
|
NM_001083116.3(PRF1):c.1350G>A (p.Thr450=)
|
rs200312496
|
0.00009
|
|
NM_001089.3(ABCA3):c.3207C>T (p.His1069=)
|
rs151260964
|
0.00009
|
|
NM_001100.4(ACTA1):c.867C>T (p.Ile289=)
|
rs140074813
|
0.00009
|
|
NM_001103.4(ACTN2):c.1292C>T (p.Ser431Leu)
|
rs149846886
|
0.00009
|
|
NM_001103.4(ACTN2):c.2659G>A (p.Ala887Thr)
|
rs148972050
|
0.00009
|
|
NM_001105206.3(LAMA4):c.3817T>C (p.Phe1273Leu)
|
rs781966924
|
0.00009
|
|
NM_001110556.2(FLNA):c.2123G>A (p.Arg708Gln)
|
rs371707134
|
0.00009
|
|
NM_001110556.2(FLNA):c.7066A>C (p.Ser2356Arg)
|
rs781823700
|
0.00009
|
|
NM_001110556.2(FLNA):c.7450C>T (p.Arg2484Cys)
|
rs782557713
|
0.00009
|
|
NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr)
|
rs193922677
|
0.00009
|
|
NM_001110792.2(MECP2):c.1375G>A (p.Ala459Thr)
|
rs267608626
|
0.00009
|
|
NM_001111125.3(IQSEC2):c.4293C>T (p.Ile1431=)
|
rs782536136
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.2105-15C>T
|
rs190471428
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.3544G>A (p.Val1182Ile)
|
rs369742607
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.6257G>T (p.Gly2086Val)
|
rs765051582
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.6782G>A (p.Gly2261Asp)
|
rs751364653
|
0.00009
|
|
NM_001127649.3(PEX26):c.33C>G (p.Pro11=)
|
rs199668827
|
0.00009
|
|
NM_001130438.3(SPTAN1):c.1689G>T (p.Met563Ile)
|
rs373973880
|
0.00009
|
|
NM_001130438.3(SPTAN1):c.3078C>T (p.Pro1026=)
|
rs779993051
|
0.00009
|
|
NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn)
|
rs574740801
|
0.00009
|
|
NM_001130438.3(SPTAN1):c.6654C>T (p.His2218=)
|
rs372825476
|
0.00009
|
|
NM_001130823.3(DNMT1):c.483T>C (p.Thr161=)
|
rs764496230
|
0.00009
|
|
NM_001130987.2(DYSF):c.1008C>T (p.Asp336=)
|
rs146687581
|
0.00009
|
|
NM_001130987.2(DYSF):c.1798C>T (p.Arg600Trp)
|
rs149386446
|
0.00009
|
|
NM_001130987.2(DYSF):c.2725G>A (p.Val909Ile)
|
rs201622087
|
0.00009
|
|
NM_001130987.2(DYSF):c.337C>T (p.Pro113Ser)
|
rs753922932
|
0.00009
|
|
NM_001130987.2(DYSF):c.3402+11C>G
|
rs780844859
|
0.00009
|
|
NM_001130987.2(DYSF):c.395C>G (p.Pro132Arg)
|
rs775881095
|
0.00009
|
|
NM_001130987.2(DYSF):c.4037C>T (p.Ala1346Val)
|
rs201476613
|
0.00009
|
|
NM_001130987.2(DYSF):c.4252C>G (p.Pro1418Ala)
|
rs151268930
|
0.00009
|
|
NM_001130987.2(DYSF):c.6100A>C (p.Ser2034Arg)
|
rs201890095
|
0.00009
|
|
NM_001130987.2(DYSF):c.690C>T (p.Pro230=)
|
rs376293526
|
0.00009
|
|
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys)
|
rs183936286
|
0.00009
|
|
NM_001142800.2(EYS):c.7284A>C (p.Ser2428=)
|
rs775877185
|
0.00009
|
|
NM_001142864.4(PIEZO1):c.5790C>G (p.Phe1930Leu)
|
rs750027720
|
0.00009
|
|
NM_001145809.2(MYH14):c.693C>T (p.Pro231=)
|
rs373744231
|
0.00009
|
|
NM_001148.6(ANK2):c.1136G>T (p.Arg379Leu)
|
rs186264035
|
0.00009
|
|
NM_001148.6(ANK2):c.2060A>G (p.Asn687Ser)
|
rs29372
|
0.00009
|
|
NM_001148.6(ANK2):c.7168A>C (p.Lys2390Gln)
|
rs151218210
|
0.00009
|
|
NM_001148.6(ANK2):c.877G>A (p.Asp293Asn)
|
rs752213208
|
0.00009
|
|
NM_001161352.2(KCNMA1):c.2283G>A (p.Pro761=)
|
rs377596790
|
0.00009
|
|
NM_001161352.2(KCNMA1):c.483C>T (p.Ser161=)
|
rs200741233
|
0.00009
|
|
NM_001161352.2(KCNMA1):c.884+15G>A
|
rs200196183
|
0.00009
|
|
NM_001164508.2(NEB):c.11559T>C (p.Asn3853=)
|
rs369429046
|
0.00009
|
|
NM_001164508.2(NEB):c.12279G>A (p.Pro4093=)
|
rs367638234
|
0.00009
|
|
NM_001164508.2(NEB):c.13204A>G (p.Ser4402Gly)
|
rs1475846023
|
0.00009
|
|
NM_001164508.2(NEB):c.17844+7C>T
|
rs373259828
|
0.00009
|
|
NM_001164508.2(NEB):c.18866G>A (p.Arg6289Gln)
|
rs575958060
|
0.00009
|
|
NM_001164508.2(NEB):c.18870C>T (p.Asn6290=)
|
rs200122580
|
0.00009
|
|
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu)
|
rs375909006
|
0.00009
|
|
NM_001164508.2(NEB):c.23763G>C (p.Leu7921Phe)
|
rs201028196
|
0.00009
|
|
NM_001164508.2(NEB):c.23770G>A (p.Gly7924Ser)
|
rs369602540
|
0.00009
|
|
NM_001164508.2(NEB):c.23812C>T (p.Arg7938Cys)
|
rs372117694
|
0.00009
|
|
NM_001164508.2(NEB):c.25163G>A (p.Arg8388His)
|
rs139333406
|
0.00009
|
|
NM_001164508.2(NEB):c.7914C>T (p.Ser2638=)
|
rs373353657
|
0.00009
|
|
NM_001164508.2(NEB):c.8800C>T (p.Arg2934Cys)
|
rs771598053
|
0.00009
|
|
NM_001164508.2(NEB):c.9832-7A>T
|
rs778183317
|
0.00009
|
|
NM_001166114.2(PNPLA6):c.648G>A (p.Pro216=)
|
rs566213812
|
0.00009
|
|
NM_001184880.2(PCDH19):c.2522G>A (p.Arg841His)
|
rs756818874
|
0.00009
|
|
NM_001184880.2(PCDH19):c.3262G>A (p.Ala1088Thr)
|
rs370078729
|
0.00009
|
|
NM_001184880.2(PCDH19):c.545G>C (p.Gly182Ala)
|
rs727504067
|
0.00009
|
|
NM_001191061.2(SLC25A22):c.579G>A (p.Thr193=)
|
rs141430143
|
0.00009
|
|
NM_001195263.2(PDZD7):c.1638T>C (p.Asn546=)
|
rs760557332
|
0.00009
|
|
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met)
|
rs201649140
|
0.00009
|
|
NM_001199397.3(NEK1):c.2421C>T (p.Phe807=)
|
rs56346829
|
0.00009
|
|
NM_001199799.2(ILDR1):c.792G>A (p.Pro264=)
|
rs186672543
|
0.00009
|
|
NM_001203.3(BMPR1B):c.251C>T (p.Thr84Ile)
|
rs200083866
|
0.00009
|
|
NM_001232.4(CASQ2):c.80C>T (p.Thr27Ile)
|
rs773237428
|
0.00009
|
|
NM_001242957.3(MAK):c.405T>G (p.Gly135=)
|
rs373994062
|
0.00009
|
|
NM_001243279.3(ACSF3):c.672C>T (p.Thr224=)
|
rs150374081
|
0.00009
|
|
NM_001244008.2(KIF1A):c.4374C>T (p.Gly1458=)
|
rs375309925
|
0.00009
|
|
NM_001253697.2(ERBIN):c.959A>T (p.Gln320Leu)
|
rs201928607
|
0.00009
|
|
NM_001256545.2(MEGF10):c.2157T>C (p.His719=)
|
rs374544972
|
0.00009
|
|
NM_001256545.2(MEGF10):c.2289C>T (p.Asn763=)
|
rs151316424
|
0.00009
|
|
NM_001256545.2(MEGF10):c.2442T>C (p.Thr814=)
|
rs370850456
|
0.00009
|
|
NM_001256545.2(MEGF10):c.2943G>A (p.Pro981=)
|
rs371253627
|
0.00009
|
|
NM_001256789.3(CACNA1F):c.5827G>A (p.Asp1943Asn)
|
rs374663693
|
0.00009
|
|
NM_001258392.3(CLPB):c.1803G>A (p.Val601=)
|
rs766600801
|
0.00009
|
|
NM_001267550.2(TTN):c.101378A>T (p.Asp33793Val)
|
rs200675195
|
0.00009
|
|
NM_001267550.2(TTN):c.102353G>A (p.Arg34118Gln)
|
rs551905996
|
0.00009
|
|
NM_001267550.2(TTN):c.102428T>C (p.Met34143Thr)
|
rs397517786
|
0.00009
|
|
NM_001267550.2(TTN):c.103993C>G (p.Leu34665Val)
|
rs370890922
|
0.00009
|
|
NM_001267550.2(TTN):c.105091G>A (p.Val35031Met)
|
rs552058608
|
0.00009
|
|
NM_001267550.2(TTN):c.13340C>T (p.Ser4447Leu)
|
rs777547090
|
0.00009
|
|
NM_001267550.2(TTN):c.13458C>T (p.Asp4486=)
|
rs748885610
|
0.00009
|
|
NM_001267550.2(TTN):c.13884C>T (p.Ser4628=)
|
rs183328495
|
0.00009
|
|
NM_001267550.2(TTN):c.14049C>T (p.Ser4683=)
|
rs370208081
|
0.00009
|
|
NM_001267550.2(TTN):c.14518A>C (p.Asn4840His)
|
rs199997460
|
0.00009
|
|
NM_001267550.2(TTN):c.1585G>A (p.Ala529Thr)
|
rs143030869
|
0.00009
|
|
NM_001267550.2(TTN):c.16057C>A (p.Arg5353=)
|
rs267599069
|
0.00009
|
|
NM_001267550.2(TTN):c.16581C>T (p.Val5527=)
|
rs373179717
|
0.00009
|
|
NM_001267550.2(TTN):c.16934C>T (p.Pro5645Leu)
|
rs370889765
|
0.00009
|
|
NM_001267550.2(TTN):c.17183-7C>T
|
rs371785683
|
0.00009
|
|
NM_001267550.2(TTN):c.17184A>G (p.Glu5728=)
|
rs200984007
|
0.00009
|
|
NM_001267550.2(TTN):c.17806A>G (p.Ile5936Val)
|
rs72648945
|
0.00009
|
|
NM_001267550.2(TTN):c.186C>T (p.Arg62=)
|
rs528853682
|
0.00009
|
|
NM_001267550.2(TTN):c.21475G>A (p.Val7159Ile)
|
rs371267140
|
0.00009
|
|
NM_001267550.2(TTN):c.21642C>T (p.Asn7214=)
|
rs752620885
|
0.00009
|
|
NM_001267550.2(TTN):c.2230G>A (p.Ala744Thr)
|
rs144639994
|
0.00009
|
|
NM_001267550.2(TTN):c.22312C>T (p.Leu7438Phe)
|
rs371114946
|
0.00009
|
|
NM_001267550.2(TTN):c.22968C>T (p.Asn7656=)
|
rs201904848
|
0.00009
|
|
NM_001267550.2(TTN):c.2360T>C (p.Ile787Thr)
|
rs143444636
|
0.00009
|
|
NM_001267550.2(TTN):c.24227-16G>A
|
rs377340591
|
0.00009
|
|
NM_001267550.2(TTN):c.25145G>A (p.Arg8382His)
|
rs199598066
|
0.00009
|
|
NM_001267550.2(TTN):c.25557C>T (p.Gly8519=)
|
rs372320172
|
0.00009
|
|
NM_001267550.2(TTN):c.25563C>T (p.Gly8521=)
|
rs556205722
|
0.00009
|
|
NM_001267550.2(TTN):c.25569C>T (p.Ala8523=)
|
rs375022009
|
0.00009
|
|
NM_001267550.2(TTN):c.2611G>T (p.Val871Leu)
|
rs72647861
|
0.00009
|
|
NM_001267550.2(TTN):c.29317G>A (p.Ala9773Thr)
|
rs371163094
|
0.00009
|
|
NM_001267550.2(TTN):c.30309T>C (p.Phe10103=)
|
rs762141482
|
0.00009
|
|
NM_001267550.2(TTN):c.30619C>G (p.Pro10207Ala)
|
rs781304514
|
0.00009
|
|
NM_001267550.2(TTN):c.31875A>C (p.Thr10625=)
|
rs182934463
|
0.00009
|
|
NM_001267550.2(TTN):c.33305G>A (p.Arg11102His)
|
rs368777046
|
0.00009
|
|
NM_001267550.2(TTN):c.34192G>T (p.Val11398Phe)
|
rs551911856
|
0.00009
|
|
NM_001267550.2(TTN):c.34982T>C (p.Val11661Ala)
|
rs199561793
|
0.00009
|
|
NM_001267550.2(TTN):c.3608G>C (p.Gly1203Ala)
|
rs564353179
|
0.00009
|
|
NM_001267550.2(TTN):c.39166G>T (p.Val13056Leu)
|
rs727504201
|
0.00009
|
|
NM_001267550.2(TTN):c.40395A>G (p.Ile13465Met)
|
rs766145596
|
0.00009
|
|
NM_001267550.2(TTN):c.41019G>A (p.Pro13673=)
|
rs762470432
|
0.00009
|
|
NM_001267550.2(TTN):c.41596G>A (p.Val13866Ile)
|
rs375474669
|
0.00009
|
|
NM_001267550.2(TTN):c.44589G>A (p.Thr14863=)
|
rs369800903
|
0.00009
|
|
NM_001267550.2(TTN):c.44734C>T (p.His14912Tyr)
|
rs766391823
|
0.00009
|
|
NM_001267550.2(TTN):c.47242A>C (p.Asn15748His)
|
rs368988689
|
0.00009
|
|
NM_001267550.2(TTN):c.50480G>A (p.Arg16827Gln)
|
rs138896856
|
0.00009
|
|
NM_001267550.2(TTN):c.50774T>C (p.Val16925Ala)
|
rs370067597
|
0.00009
|
|
NM_001267550.2(TTN):c.51668G>A (p.Arg17223Gln)
|
rs142395261
|
0.00009
|
|
NM_001267550.2(TTN):c.52317A>G (p.Lys17439=)
|
rs370450339
|
0.00009
|
|
NM_001267550.2(TTN):c.53012C>T (p.Ala17671Val)
|
rs549478203
|
0.00009
|
|
NM_001267550.2(TTN):c.5314A>G (p.Ser1772Gly)
|
rs150725992
|
0.00009
|
|
NM_001267550.2(TTN):c.53780T>C (p.Leu17927Pro)
|
rs369678018
|
0.00009
|
|
NM_001267550.2(TTN):c.53903G>A (p.Arg17968His)
|
rs200100660
|
0.00009
|
|
NM_001267550.2(TTN):c.54053A>T (p.Lys18018Met)
|
rs368425364
|
0.00009
|
|
NM_001267550.2(TTN):c.54068G>A (p.Arg18023Gln)
|
rs727503603
|
0.00009
|
|
NM_001267550.2(TTN):c.54109C>T (p.Arg18037Trp)
|
rs201623791
|
0.00009
|
|
NM_001267550.2(TTN):c.57544+7dup
|
rs750881309
|
0.00009
|
|
NM_001267550.2(TTN):c.58857A>C (p.Glu19619Asp)
|
rs368026488
|
0.00009
|
|
NM_001267550.2(TTN):c.59849G>A (p.Arg19950Gln)
|
rs374914334
|
0.00009
|
|
NM_001267550.2(TTN):c.60146G>A (p.Arg20049His)
|
rs200455644
|
0.00009
|
|
NM_001267550.2(TTN):c.63907G>A (p.Val21303Met)
|
rs372812312
|
0.00009
|
|
NM_001267550.2(TTN):c.65574T>C (p.Asn21858=)
|
rs374858668
|
0.00009
|
|
NM_001267550.2(TTN):c.66086G>A (p.Arg22029His)
|
rs72646868
|
0.00009
|
|
NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn)
|
rs368924655
|
0.00009
|
|
NM_001267550.2(TTN):c.68225-5T>C
|
rs758273663
|
0.00009
|
|
NM_001267550.2(TTN):c.7058-17C>T
|
rs572098454
|
0.00009
|
|
NM_001267550.2(TTN):c.70864G>A (p.Val23622Ile)
|
rs72646892
|
0.00009
|
|
NM_001267550.2(TTN):c.72674C>T (p.Pro24225Leu)
|
rs55992239
|
0.00009
|
|
NM_001267550.2(TTN):c.72802C>T (p.Arg24268Cys)
|
rs370474301
|
0.00009
|
|
NM_001267550.2(TTN):c.72826A>T (p.Thr24276Ser)
|
rs373204984
|
0.00009
|
|
NM_001267550.2(TTN):c.75259G>A (p.Ala25087Thr)
|
rs759110420
|
0.00009
|
|
NM_001267550.2(TTN):c.7597A>G (p.Ile2533Val)
|
rs372407708
|
0.00009
|
|
NM_001267550.2(TTN):c.78906A>C (p.Glu26302Asp)
|
rs534003014
|
0.00009
|
|
NM_001267550.2(TTN):c.79334G>A (p.Arg26445His)
|
rs764254441
|
0.00009
|
|
NM_001267550.2(TTN):c.81565C>G (p.Leu27189Val)
|
rs142391957
|
0.00009
|
|
NM_001267550.2(TTN):c.82488C>T (p.Asp27496=)
|
rs373909196
|
0.00009
|
|
NM_001267550.2(TTN):c.84965G>A (p.Arg28322His)
|
rs373532064
|
0.00009
|
|
NM_001267550.2(TTN):c.87280G>A (p.Glu29094Lys)
|
rs199501185
|
0.00009
|
|
NM_001267550.2(TTN):c.88285A>G (p.Ile29429Val)
|
rs373738818
|
0.00009
|
|
NM_001267550.2(TTN):c.89357C>T (p.Thr29786Ile)
|
rs753966916
|
0.00009
|
|
NM_001267550.2(TTN):c.89515A>G (p.Ile29839Val)
|
rs750806089
|
0.00009
|
|
NM_001267550.2(TTN):c.89947G>A (p.Val29983Met)
|
rs397517746
|
0.00009
|
|
NM_001267550.2(TTN):c.90950T>C (p.Val30317Ala)
|
rs759474127
|
0.00009
|
|
NM_001267550.2(TTN):c.91373G>A (p.Ser30458Asn)
|
rs376634713
|
0.00009
|
|
NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr)
|
rs369342933
|
0.00009
|
|
NM_001267550.2(TTN):c.93860T>C (p.Phe31287Ser)
|
rs374887049
|
0.00009
|
|
NM_001267550.2(TTN):c.94827C>T (p.Tyr31609=)
|
rs771635198
|
0.00009
|
|
NM_001267550.2(TTN):c.96989T>C (p.Ile32330Thr)
|
rs201023432
|
0.00009
|
|
NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu)
|
rs377412567
|
0.00009
|
|
NM_001267550.2(TTN):c.9955G>A (p.Val3319Ile)
|
rs375533809
|
0.00009
|
|
NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu)
|
rs755088564
|
0.00009
|
|
NM_001271.4(CHD2):c.753A>G (p.Glu251=)
|
rs368486032
|
0.00009
|
|
NM_001276345.2(TNNT2):c.208A>G (p.Met70Val)
|
rs141837529
|
0.00009
|
|
NM_001276345.2(TNNT2):c.720-4G>T
|
rs201753429
|
0.00009
|
|
NM_001276345.2(TNNT2):c.837C>T (p.Asn279=)
|
rs376923877
|
0.00009
|
|
NM_001277115.2(DNAH11):c.12534A>G (p.Pro4178=)
|
rs752183095
|
0.00009
|
|
NM_001277115.2(DNAH11):c.1513C>T (p.His505Tyr)
|
rs771891040
|
0.00009
|
|
NM_001277115.2(DNAH11):c.1655G>T (p.Gly552Val)
|
rs187510989
|
0.00009
|
|
NM_001277115.2(DNAH11):c.7603C>T (p.Arg2535Cys)
|
rs374335908
|
0.00009
|
|
NM_001278116.2(L1CAM):c.2537G>T (p.Arg846Leu)
|
rs149737236
|
0.00009
|
|
NM_001283009.2(RTEL1):c.1395C>T (p.His465=)
|
rs376423914
|
0.00009
|
|
NM_001288705.3(CSF1R):c.2554+3G>A
|
rs377388187
|
0.00009
|
|
NM_001288705.3(CSF1R):c.470C>T (p.Ser157Leu)
|
rs148673905
|
0.00009
|
|
NM_001291303.3(FAT4):c.14362G>A (p.Gly4788Arg)
|
rs138173652
|
0.00009
|
|
NM_001291303.3(FAT4):c.7813A>G (p.Ile2605Val)
|
rs745697037
|
0.00009
|
|
NM_001291303.3(FAT4):c.8537G>A (p.Arg2846Gln)
|
rs373393333
|
0.00009
|
|
NM_001291867.2(NHS):c.3408G>A (p.Thr1136=)
|
rs370811549
|
0.00009
|
|
NM_001292034.3(TAB2):c.311C>T (p.Thr104Met)
|
rs559771770
|
0.00009
|
|
NM_001292063.2(OTOG):c.2294-7A>G
|
rs200998174
|
0.00009
|
|
NM_001318895.3(FHL2):c.392G>A (p.Arg131His)
|
rs371421189
|
0.00009
|
|
NM_001347217.2(WDR13):c.892G>T (p.Gly298Trp)
|
rs201415075
|
0.00009
|
|
NM_001351132.2(PEX5):c.1245C>T (p.Asn415=)
|
rs138243167
|
0.00009
|
|
NM_001355436.2(SPTB):c.3425G>A (p.Arg1142Gln)
|
rs141173028
|
0.00009
|
|
NM_001360.3(DHCR7):c.1155C>T (p.Ala385=)
|
rs777517985
|
0.00009
|
|
NM_001360.3(DHCR7):c.735C>T (p.Ile245=)
|
rs12800
|
0.00009
|
|
NM_001364171.2(ODAD1):c.1423G>A (p.Asp475Asn)
|
rs199600077
|
0.00009
|
|
NM_001365276.2(TNXB):c.7889G>A (p.Arg2630His)
|
rs374865424
|
0.00009
|
|
NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His)
|
rs79805025
|
0.00009
|
|
NM_001365951.3(KIF1B):c.315T>C (p.Tyr105=)
|
rs144889528
|
0.00009
|
|
NM_001365951.3(KIF1B):c.899A>G (p.Lys300Arg)
|
rs373698346
|
0.00009
|
|
NM_001365999.1(SZT2):c.5665G>T (p.Ala1889Ser)
|
rs370230435
|
0.00009
|
|
NM_001367624.2(ZNF469):c.266A>G (p.Lys89Arg)
|
rs1022368248
|
0.00009
|
|
NM_001367624.2(ZNF469):c.80C>T (p.Pro27Leu)
|
rs1009769670
|
0.00009
|
|
NM_001368894.2(PAX6):c.465C>G (p.Gly155=)
|
rs139803630
|
0.00009
|
|
NM_001369.3(DNAH5):c.10658G>A (p.Arg3553Gln)
|
rs144393366
|
0.00009
|
|
NM_001369.3(DNAH5):c.12251G>A (p.Arg4084Gln)
|
rs140832239
|
0.00009
|
|
NM_001369.3(DNAH5):c.13591G>A (p.Glu4531Lys)
|
rs201242847
|
0.00009
|
|
NM_001369.3(DNAH5):c.1362A>G (p.Lys454=)
|
rs371157628
|
0.00009
|
|
NM_001369.3(DNAH5):c.4821G>T (p.Gln1607His)
|
rs773599958
|
0.00009
|
|
NM_001369.3(DNAH5):c.6970A>G (p.Thr2324Ala)
|
rs143074036
|
0.00009
|
|
NM_001369268.1(ACAN):c.2261T>C (p.Leu754Pro)
|
rs577419060
|
0.00009
|
|
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp)
|
rs143329068
|
0.00009
|
|
NM_001370259.2(MEN1):c.655-4del
|
rs748005956
|
0.00009
|
|
NM_001374353.1(GLI2):c.88A>C (p.Lys30Gln)
|
rs201053024
|
0.00009
|
|
NM_001374385.1(ATP8B1):c.903G>A (p.Arg301=)
|
rs762363452
|
0.00009
|
|
NM_001374736.1(DST):c.23035G>T (p.Ala7679Ser)
|
rs201138592
|
0.00009
|
|
NM_001376.5(DYNC1H1):c.13515+8C>T
|
rs200901713
|
0.00009
|
|
NM_001376.5(DYNC1H1):c.13782G>A (p.Lys4594=)
|
rs147580834
|
0.00009
|
|
NM_001376.5(DYNC1H1):c.1560T>C (p.Ile520=)
|
rs761916499
|
0.00009
|
|
NM_001376.5(DYNC1H1):c.5655T>A (p.Thr1885=)
|
rs538791873
|
0.00009
|
|
NM_001377.3(DYNC2H1):c.2479A>G (p.Ile827Val)
|
rs201224700
|
0.00009
|
|
NM_001377.3(DYNC2H1):c.8833-3T>C
|
rs551227065
|
0.00009
|
|
NM_001378120.1(MBD5):c.4258T>G (p.Ser1420Ala)
|
rs756608508
|
0.00009
|
|
NM_001378183.1(PIEZO2):c.1006G>A (p.Ala336Thr)
|
rs368601054
|
0.00009
|
|
NM_001378452.1(ITPR1):c.8277A>G (p.Ter2759=)
|
rs376816678
|
0.00009
|
|
NM_001378454.1(ALMS1):c.4068G>C (p.Glu1356Asp)
|
rs376812264
|
0.00009
|
|
NM_001378454.1(ALMS1):c.568C>A (p.Leu190Met)
|
rs375838474
|
0.00009
|
|
NM_001378454.1(ALMS1):c.8595A>G (p.Val2865=)
|
rs1052804740
|
0.00009
|
|
NM_001378454.1(ALMS1):c.9908-13C>T
|
rs373325114
|
0.00009
|
|
NM_001378477.3(NYX):c.796C>T (p.Arg266Cys)
|
rs369077278
|
0.00009
|
|
NM_001378609.3(OTOGL):c.5702T>C (p.Ile1901Thr)
|
rs775475186
|
0.00009
|
|
NM_001378615.1(CC2D2A):c.1766G>A (p.Arg589Lys)
|
rs763477416
|
0.00009
|
|
NM_001378615.1(CC2D2A):c.2182-9G>A
|
rs376312792
|
0.00009
|
|
NM_001378964.1(CDON):c.3602G>A (p.Gly1201Asp)
|
rs200042535
|
0.00009
|
|
NM_001379200.1(TBX1):c.1402G>C (p.Val468Leu)
|
rs764197422
|
0.00009
|
|
NM_001379200.1(TBX1):c.711C>T (p.His237=)
|
rs200021644
|
0.00009
|
|
NM_001379500.1(COL18A1):c.2214C>T (p.Pro738=)
|
rs199910738
|
0.00009
|
|
NM_001382567.1(STIM1):c.408G>C (p.Glu136Asp)
|
rs200648767
|
0.00009
|
|
NM_001384125.1(BLTP1):c.13162A>G (p.Ile4388Val)
|
rs201342483
|
0.00009
|
|
NM_001384140.1(PCDH15):c.2619A>G (p.Glu873=)
|
rs150784450
|
0.00009
|
|
NM_001384474.1(LOXHD1):c.5458A>T (p.Thr1820Ser)
|
rs775871086
|
0.00009
|
|
NM_001384474.1(LOXHD1):c.5514G>A (p.Glu1838=)
|
rs749182319
|
0.00009
|
|
NM_001384732.1(CPLANE1):c.2446C>G (p.Leu816Val)
|
rs192335673
|
0.00009
|
|
NM_001384732.1(CPLANE1):c.608A>G (p.Tyr203Cys)
|
rs144969169
|
0.00009
|
|
NM_001384732.1(CPLANE1):c.6446G>A (p.Ser2149Asn)
|
rs765250980
|
0.00009
|
|
NM_001384732.1(CPLANE1):c.6512G>A (p.Arg2171Gln)
|
rs377742483
|
0.00009
|
|
NM_001386140.1(MTTP):c.130C>G (p.Leu44Val)
|
rs779068565
|
0.00009
|
|
NM_001395413.1(POR):c.1806+7C>T
|
rs72557951
|
0.00009
|
|
NM_001395413.1(POR):c.357+14G>A
|
rs372941705
|
0.00009
|
|
NM_001429.4(EP300):c.1572G>A (p.Thr524=)
|
rs746398873
|
0.00009
|
|
NM_001429.4(EP300):c.3591-6C>T
|
rs368437789
|
0.00009
|
|
NM_001429.4(EP300):c.586A>G (p.Ile196Val)
|
rs148693910
|
0.00009
|
|
NM_001429.4(EP300):c.6315C>T (p.Gly2105=)
|
rs528866215
|
0.00009
|
|
NM_001457.4(FLNB):c.3673G>A (p.Ala1225Thr)
|
rs371610564
|
0.00009
|
|
NM_001457.4(FLNB):c.7120C>T (p.Arg2374Cys)
|
rs146963572
|
0.00009
|
|
NM_001458.5(FLNC):c.1205C>T (p.Thr402Ile)
|
rs374757755
|
0.00009
|
|
NM_001458.5(FLNC):c.1605C>T (p.Cys535=)
|
rs199976790
|
0.00009
|
|
NM_001458.5(FLNC):c.1606G>A (p.Glu536Lys)
|
rs141616435
|
0.00009
|
|
NM_001458.5(FLNC):c.1616C>T (p.Pro539Leu)
|
rs375570393
|
0.00009
|
|
NM_001458.5(FLNC):c.1645A>G (p.Ile549Val)
|
rs547997371
|
0.00009
|
|
NM_001458.5(FLNC):c.3623C>T (p.Ala1208Val)
|
rs202184162
|
0.00009
|
|
NM_001458.5(FLNC):c.5410A>T (p.Met1804Leu)
|
rs201949844
|
0.00009
|
|
NM_001458.5(FLNC):c.643G>A (p.Val215Met)
|
rs754309921
|
0.00009
|
|
NM_001458.5(FLNC):c.970-5A>G
|
rs199755800
|
0.00009
|
|
NM_001551.3(IGBP1):c.536T>C (p.Val179Ala)
|
rs368773089
|
0.00009
|
|
NM_001556.3(IKBKB):c.2087A>G (p.Asn696Ser)
|
rs202226005
|
0.00009
|
|
NM_001558.4(IL10RA):c.1452G>A (p.Glu484=)
|
rs139576148
|
0.00009
|
|
NM_001692.4(ATP6V1B1):c.1061-13A>G
|
rs200724195
|
0.00009
|
|
NM_001692.4(ATP6V1B1):c.669C>T (p.Ile223=)
|
rs372233648
|
0.00009
|
|
NM_001698.3(AUH):c.20C>T (p.Ala7Val)
|
rs863223911
|
0.00009
|
|
NM_001711.6(BGN):c.677-3C>A
|
rs113471463
|
0.00009
|
|
NM_001711.6(BGN):c.976G>A (p.Gly326Arg)
|
rs200072898
|
0.00009
|
|
NM_001754.5(RUNX1):c.668A>G (p.Glu223Gly)
|
rs780999703
|
0.00009
|
|
NM_001793.6(CDH3):c.2364C>T (p.Asp788=)
|
rs144637479
|
0.00009
|
|
NM_001844.5(COL2A1):c.112G>A (p.Gly38Arg)
|
rs765855138
|
0.00009
|
|
NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys)
|
rs146046296
|
0.00009
|
|
NM_001845.6(COL4A1):c.2285T>C (p.Val762Ala)
|
rs374930028
|
0.00009
|
|
NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln)
|
rs146288748
|
0.00009
|
|
NM_001845.6(COL4A1):c.4150+3G>A
|
rs545498227
|
0.00009
|
|
NM_001846.4(COL4A2):c.1256C>T (p.Ala419Val)
|
rs72657933
|
0.00009
|
|
NM_001849.4(COL6A2):c.116-6C>T
|
rs761805565
|
0.00009
|
|
NM_001849.4(COL6A2):c.2745G>A (p.Ser915=)
|
rs144516266
|
0.00009
|
|
NM_001849.4(COL6A2):c.2784C>T (p.Ile928=)
|
rs199501232
|
0.00009
|
|
NM_001849.4(COL6A2):c.999+10G>T
|
rs376378709
|
0.00009
|
|
NM_001851.6(COL9A1):c.344C>T (p.Thr115Met)
|
rs200018557
|
0.00009
|
|
NM_001851.6(COL9A1):c.38T>C (p.Val13Ala)
|
rs140274454
|
0.00009
|
|
NM_001854.4(COL11A1):c.2735C>T (p.Pro912Leu)
|
rs192842970
|
0.00009
|
|
NM_001875.5(CPS1):c.1087-7C>T
|
rs202117044
|
0.00009
|
|
NM_001875.5(CPS1):c.1154T>C (p.Ile385Thr)
|
rs201955205
|
0.00009
|
|
NM_001876.4(CPT1A):c.1910C>T (p.Ser637Phe)
|
rs150459546
|
0.00009
|
|
NM_001876.4(CPT1A):c.2028+7C>G
|
rs768465007
|
0.00009
|
|
NM_001927.4(DES):c.250G>A (p.Gly84Ser)
|
rs200545412
|
0.00009
|
|
NM_001927.4(DES):c.642C>T (p.Asp214=)
|
rs370239228
|
0.00009
|
|
NM_001943.5(DSG2):c.147C>T (p.Arg49=)
|
rs531036279
|
0.00009
|
|
NM_001943.5(DSG2):c.2096G>T (p.Ser699Ile)
|
rs727504770
|
0.00009
|
|
NM_001943.5(DSG2):c.379-3C>T
|
rs376556524
|
0.00009
|
|
NM_001953.5(TYMP):c.-4A>G
|
rs571316178
|
0.00009
|
|
NM_001987.5(ETV6):c.605G>A (p.Arg202Gln)
|
rs200351280
|
0.00009
|
|
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=)
|
rs147633551
|
0.00009
|
|
NM_001999.4(FBN2):c.3296G>A (p.Arg1099His)
|
rs202050092
|
0.00009
|
|
NM_001999.4(FBN2):c.4763A>T (p.Asp1588Val)
|
rs202218356
|
0.00009
|
|
NM_001999.4(FBN2):c.5275A>C (p.Lys1759Gln)
|
rs201113098
|
0.00009
|
|
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val)
|
rs145353444
|
0.00009
|
|
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met)
|
rs142747169
|
0.00009
|
|
NM_002076.4(GNS):c.624+10A>G
|
rs757526895
|
0.00009
|
|
NM_002103.5(GYS1):c.1305G>A (p.Thr435=)
|
rs147610727
|
0.00009
|
|
NM_002180.3(IGHMBP2):c.1295C>T (p.Ala432Val)
|
rs370414354
|
0.00009
|
|
NM_002187.3(IL12B):c.300G>A (p.Ser100=)
|
rs142998256
|
0.00009
|
|
NM_002230.4(JUP):c.1372G>A (p.Ala458Thr)
|
rs139559495
|
0.00009
|
|
NM_002230.4(JUP):c.1862T>C (p.Ile621Thr)
|
rs752594411
|
0.00009
|
|
NM_002230.4(JUP):c.578T>C (p.Met193Thr)
|
rs139496777
|
0.00009
|
|
NM_002230.4(JUP):c.892G>A (p.Gly298Ser)
|
rs199597864
|
0.00009
|
|
NM_002291.3(LAMB1):c.5225-8C>A
|
rs778153007
|
0.00009
|
|
NM_002294.3(LAMP2):c.1093+2544A>G
|
rs777128122
|
0.00009
|
|
NM_002303.6(LEPR):c.2171T>C (p.Val724Ala)
|
rs375934938
|
0.00009
|
|
NM_002303.6(LEPR):c.296G>A (p.Cys99Tyr)
|
rs548848340
|
0.00009
|
|
NM_002454.3(MTRR):c.1677-2dup
|
rs747255318
|
0.00009
|
|
NM_002471.4(MYH6):c.4651-3C>A
|
rs572175190
|
0.00009
|
|
NM_002473.6(MYH9):c.5188C>T (p.Arg1730Cys)
|
rs201021615
|
0.00009
|
|
NM_002474.3(MYH11):c.3293+6G>A
|
rs370658839
|
0.00009
|
|
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp)
|
rs144421849
|
0.00009
|
|
NM_002474.3(MYH11):c.5277C>T (p.Val1759=)
|
rs112564682
|
0.00009
|
|
NM_002528.7(NTHL1):c.607C>T (p.Leu203=)
|
rs369076851
|
0.00009
|
|
NM_002528.7(NTHL1):c.896C>T (p.Pro299Leu)
|
rs367629024
|
0.00009
|
|
NM_002529.4(NTRK1):c.659G>A (p.Arg220Gln)
|
rs540751200
|
0.00009
|
|
NM_002618.4(PEX13):c.338T>C (p.Leu113Pro)
|
rs202077756
|
0.00009
|
|
NM_002691.4(POLD1):c.187G>A (p.Glu63Lys)
|
rs200736325
|
0.00009
|
|
NM_002691.4(POLD1):c.2100A>G (p.Val700=)
|
rs772468675
|
0.00009
|
|
NM_002691.4(POLD1):c.2388+5G>A
|
rs750085275
|
0.00009
|
|
NM_002693.3(POLG):c.*44G>C
|
rs563185483
|
0.00009
|
|
NM_002693.3(POLG):c.1842C>T (p.Tyr614=)
|
rs62640033
|
0.00009
|
|
NM_002693.3(POLG):c.2220C>T (p.Asn740=)
|
rs141538857
|
0.00009
|
|
NM_002734.5(PRKAR1A):c.103A>G (p.Ile35Val)
|
rs377513504
|
0.00009
|
|
NM_002755.4(MAP2K1):c.1168G>A (p.Ala390Thr)
|
rs730880500
|
0.00009
|
|
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=)
|
rs143238917
|
0.00009
|
|
NM_002875.5(RAD51):c.531-12C>T
|
rs752351863
|
0.00009
|
|
NM_002878.4(RAD51D):c.196G>A (p.Val66Met)
|
rs56026142
|
0.00009
|
|
NM_002878.4(RAD51D):c.864C>T (p.Gly288=)
|
rs138557828
|
0.00009
|
|
NM_002890.3(RASA1):c.2603C>T (p.Pro868Leu)
|
rs138785106
|
0.00009
|
|
NM_002907.4(RECQL):c.2T>C (p.Met1Thr)
|
rs146924988
|
0.00009
|
|
NM_002968.3(SALL1):c.2373C>A (p.Gly791=)
|
rs377295510
|
0.00009
|
|
NM_003036.4(SKI):c.1568C>T (p.Ser523Leu)
|
rs730880212
|
0.00009
|
|
NM_003072.5(SMARCA4):c.1812+3G>A
|
rs371562008
|
0.00009
|
|
NM_003072.5(SMARCA4):c.3975C>T (p.Arg1325=)
|
rs144803359
|
0.00009
|
|
NM_003119.4(SPG7):c.1971C>T (p.Ile657=)
|
rs140356355
|
0.00009
|
|
NM_003119.4(SPG7):c.454A>G (p.Met152Val)
|
rs146186857
|
0.00009
|
|
NM_003126.4(SPTA1):c.3697G>A (p.Val1233Ile)
|
rs369125471
|
0.00009
|
|
NM_003126.4(SPTA1):c.4004G>A (p.Arg1335His)
|
rs750860161
|
0.00009
|
|
NM_003126.4(SPTA1):c.4347G>T (p.Lys1449Asn)
|
rs375506528
|
0.00009
|
|
NM_003179.3(SYP):c.868G>T (p.Gly290Trp)
|
rs376222680
|
0.00009
|
|
NM_003321.5(TUFM):c.1195-3T>C
|
rs376169369
|
0.00009
|
|
NM_003331.5(TYK2):c.1398C>T (p.Pro466=)
|
rs200752112
|
0.00009
|
|
NM_003356.4(UCP3):c.922C>T (p.Arg308Trp)
|
rs763155375
|
0.00009
|
|
NM_003383.5(VLDLR):c.315A>G (p.Pro105=)
|
rs138500615
|
0.00009
|
|
NM_003480.4(MFAP5):c.343C>T (p.Arg115Cys)
|
rs748795143
|
0.00009
|
|
NM_003482.4(KMT2D):c.2222C>T (p.Pro741Leu)
|
rs587778453
|
0.00009
|
|
NM_003482.4(KMT2D):c.6392C>A (p.Thr2131Asn)
|
rs587778463
|
0.00009
|
|
NM_003482.4(KMT2D):c.7366C>T (p.Arg2456Cys)
|
rs754060706
|
0.00009
|
|
NM_003482.4(KMT2D):c.793C>T (p.Arg265Cys)
|
rs766543419
|
0.00009
|
|
NM_003722.5(TP63):c.1459C>T (p.Arg487Cys)
|
rs777306829
|
0.00009
|
|
NM_003737.4(DCHS1):c.2699C>T (p.Thr900Met)
|
rs150889229
|
0.00009
|
|
NM_003742.4(ABCB11):c.1055G>A (p.Gly352Glu)
|
rs201351924
|
0.00009
|
|
NM_003742.4(ABCB11):c.1987G>A (p.Ala663Thr)
|
rs371319925
|
0.00009
|
|
NM_003742.4(ABCB11):c.2515A>G (p.Met839Val)
|
rs372757355
|
0.00009
|
|
NM_003816.3(ADAM9):c.540G>A (p.Lys180=)
|
rs186443262
|
0.00009
|
|
NM_003982.4(SLC7A7):c.1128A>C (p.Glu376Asp)
|
rs139619724
|
0.00009
|
|
NM_004006.3(DMD):c.3004A>T (p.Thr1002Ser)
|
rs1244241099
|
0.00009
|
|
NM_004006.3(DMD):c.530+7A>T
|
rs72470523
|
0.00009
|
|
NM_004006.3(DMD):c.7427A>G (p.Asn2476Ser)
|
rs757394130
|
0.00009
|
|
NM_004006.3(DMD):c.9888C>T (p.Pro3296=)
|
rs146543659
|
0.00009
|
|
NM_004064.5(CDKN1B):c.54C>T (p.Ala18=)
|
rs151027466
|
0.00009
|
|
NM_004104.5(FASN):c.1328G>A (p.Arg443Gln)
|
rs199956437
|
0.00009
|
|
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln)
|
rs199844384
|
0.00009
|
|
NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln)
|
rs376391115
|
0.00009
|
|
NM_004260.4(RECQL4):c.1485C>T (p.Gly495=)
|
rs773682937
|
0.00009
|
|
NM_004281.4(BAG3):c.554C>T (p.Ser185Leu)
|
rs730880054
|
0.00009
|
|
NM_004320.6(ATP2A1):c.1766C>T (p.Thr589Met)
|
rs200285714
|
0.00009
|
|
NM_004329.3(BMPR1A):c.1348G>A (p.Val450Met)
|
rs55932635
|
0.00009
|
|
NM_004329.3(BMPR1A):c.33G>A (p.Leu11=)
|
rs535411352
|
0.00009
|
|
NM_004341.5(CAD):c.3309G>A (p.Thr1103=)
|
rs771911380
|
0.00009
|
|
NM_004360.5(CDH1):c.1996A>C (p.Asn666His)
|
rs150427791
|
0.00009
|
|
NM_004360.5(CDH1):c.2644G>A (p.Asp882Asn)
|
rs200104963
|
0.00009
|
|
NM_004369.4(COL6A3):c.3507C>T (p.Asn1169=)
|
rs138426138
|
0.00009
|
|
NM_004369.4(COL6A3):c.6157-4T>G
|
rs536696110
|
0.00009
|
|
NM_004369.4(COL6A3):c.7702C>T (p.Leu2568=)
|
rs201479636
|
0.00009
|
|
NM_004370.6(COL12A1):c.2323A>G (p.Arg775Gly)
|
rs200167099
|
0.00009
|
|
NM_004371.4(COPA):c.778C>T (p.Arg260Cys)
|
rs773636602
|
0.00009
|
|
NM_004380.3(CREBBP):c.7184T>C (p.Ile2395Thr)
|
rs759047530
|
0.00009
|
|
NM_004385.5(VCAN):c.2542G>A (p.Glu848Lys)
|
rs188853533
|
0.00009
|
|
NM_004393.6(DAG1):c.2349T>C (p.Leu783=)
|
rs201280782
|
0.00009
|
|
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe)
|
rs372922674
|
0.00009
|
|
NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln)
|
rs201736018
|
0.00009
|
|
NM_004415.4(DSP):c.5523A>C (p.Ser1841=)
|
rs730882116
|
0.00009
|
|
NM_004415.4(DSP):c.5617C>T (p.Arg1873Cys)
|
rs144392839
|
0.00009
|
|
NM_004415.4(DSP):c.667G>A (p.Gly223Ser)
|
rs200806163
|
0.00009
|
|
NM_004447.6(EPS8):c.1822A>C (p.Lys608Gln)
|
rs200844984
|
0.00009
|
|
NM_004453.4(ETFDH):c.1692A>T (p.Gly564=)
|
rs377544087
|
0.00009
|
|
NM_004519.4(KCNQ3):c.1226C>G (p.Pro409Arg)
|
rs149272208
|
0.00009
|
|
NM_004519.4(KCNQ3):c.2237C>T (p.Thr746Met)
|
rs375833070
|
0.00009
|
|
NM_004525.3(LRP2):c.10906C>T (p.Arg3636Trp)
|
rs747833963
|
0.00009
|
|
NM_004525.3(LRP2):c.12296-4G>A
|
rs375166826
|
0.00009
|
|
NM_004525.3(LRP2):c.7284T>G (p.Ser2428Arg)
|
rs373362950
|
0.00009
|
|
NM_004527.4(MEOX1):c.308G>A (p.Arg103His)
|
rs140721400
|
0.00009
|
|
NM_004530.6(MMP2):c.932C>T (p.Thr311Met)
|
rs572726028
|
0.00009
|
|
NM_004629.2(FANCG):c.373_375dup (p.Val125dup)
|
rs750843326
|
0.00009
|
|
NM_004646.4(NPHS1):c.3455C>T (p.Thr1152Met)
|
rs143145248
|
0.00009
|
|
NM_004656.4(BAP1):c.186C>T (p.Val62=)
|
rs199608453
|
0.00009
|
|
NM_004698.4(PRPF3):c.957T>C (p.Pro319=)
|
rs199721048
|
0.00009
|
|
NM_004813.4(PEX16):c.262G>A (p.Val88Met)
|
rs567165324
|
0.00009
|
|
NM_004817.4(TJP2):c.1953G>T (p.Gly651=)
|
rs750134026
|
0.00009
|
|
NM_004820.5(CYP7B1):c.757A>G (p.Lys253Glu)
|
rs200328073
|
0.00009
|
|
NM_004990.4(MARS1):c.1033C>T (p.Arg345Cys)
|
rs772759631
|
0.00009
|
|
NM_004991.4(MECOM):c.2571C>A (p.His857Gln)
|
rs371991943
|
0.00009
|
|
NM_005045.4(RELN):c.4495G>C (p.Asp1499His)
|
rs200428576
|
0.00009
|
|
NM_005045.4(RELN):c.4689C>T (p.Asp1563=)
|
rs138694965
|
0.00009
|
|
NM_005045.4(RELN):c.8005G>A (p.Val2669Ile)
|
rs375985673
|
0.00009
|
|
NM_005142.3(CBLIF):c.1074-3T>C
|
rs370833765
|
0.00009
|
|
NM_005188.4(CBL):c.1566T>C (p.Ala522=)
|
rs371065029
|
0.00009
|
|
NM_005373.3(MPL):c.1467C>T (p.Thr489=)
|
rs759161511
|
0.00009
|
|
NM_005379.4(MYO1A):c.2082C>G (p.Arg694=)
|
rs189900453
|
0.00009
|
|
NM_005379.4(MYO1A):c.2872A>G (p.Ser958Gly)
|
rs184810732
|
0.00009
|
|
NM_005422.4(TECTA):c.1132G>A (p.Val378Met)
|
rs372860835
|
0.00009
|
|
NM_005422.4(TECTA):c.2266A>G (p.Lys756Glu)
|
rs141420954
|
0.00009
|
|
NM_005422.4(TECTA):c.3016G>A (p.Gly1006Ser)
|
rs375052932
|
0.00009
|
|
NM_005422.4(TECTA):c.4163G>A (p.Arg1388His)
|
rs150016625
|
0.00009
|
|
NM_005422.4(TECTA):c.5046C>T (p.Ile1682=)
|
rs200367148
|
0.00009
|
|
NM_005477.3(HCN4):c.1815G>A (p.Thr605=)
|
rs367753936
|
0.00009
|
|
NM_005502.4(ABCA1):c.2903T>C (p.Met968Thr)
|
rs776604878
|
0.00009
|
|
NM_005506.4(SCARB2):c.80G>A (p.Arg27Gln)
|
rs368906199
|
0.00009
|
|
NM_005529.7(HSPG2):c.1086G>A (p.Lys362=)
|
rs189837148
|
0.00009
|
|
NM_005529.7(HSPG2):c.2124C>T (p.Ser708=)
|
rs139220302
|
0.00009
|
|
NM_005529.7(HSPG2):c.8076C>T (p.Gly2692=)
|
rs372321167
|
0.00009
|
|
NM_005535.3(IL12RB1):c.309T>C (p.Ala103=)
|
rs369830496
|
0.00009
|
|
NM_005535.3(IL12RB1):c.320T>C (p.Val107Ala)
|
rs150285174
|
0.00009
|
|
NM_005562.3(LAMC2):c.1039C>T (p.Arg347Cys)
|
rs188149266
|
0.00009
|
|
NM_005566.4(LDHA):c.57C>T (p.Pro19=)
|
rs11553870
|
0.00009
|
|
NM_005592.4(MUSK):c.312T>C (p.Gly104=)
|
rs56181115
|
0.00009
|
|
NM_005609.4(PYGM):c.1403+5G>A
|
rs373040789
|
0.00009
|
|
NM_005609.4(PYGM):c.540C>T (p.Ala180=)
|
rs148731983
|
0.00009
|
|
NM_005609.4(PYGM):c.63C>T (p.Gly21=)
|
rs368124628
|
0.00009
|
|
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp)
|
rs558267822
|
0.00009
|
|
NM_005633.4(SOS1):c.244A>G (p.Ile82Val)
|
rs397517157
|
0.00009
|
|
NM_005633.4(SOS1):c.280A>G (p.Ile94Val)
|
rs144757941
|
0.00009
|
|
NM_005633.4(SOS1):c.3322G>A (p.Asp1108Asn)
|
rs199856844
|
0.00009
|
|
NM_005633.4(SOS1):c.7G>T (p.Ala3Ser)
|
rs533757634
|
0.00009
|
|
NM_005732.4(RAD50):c.1211A>G (p.Gln404Arg)
|
rs200017020
|
0.00009
|
|
NM_005732.4(RAD50):c.3790C>T (p.Leu1264Phe)
|
rs199579239
|
0.00009
|
|
NM_005751.5(AKAP9):c.2930A>G (p.Asn977Ser)
|
rs369206894
|
0.00009
|
|
NM_005751.5(AKAP9):c.6905C>T (p.Thr2302Met)
|
rs368444006
|
0.00009
|
|
NM_005751.5(AKAP9):c.8747C>A (p.Thr2916Lys)
|
rs146648044
|
0.00009
|
|
NM_005787.6(ALG3):c.777C>T (p.Ser259=)
|
rs142901178
|
0.00009
|
|
NM_005802.5(TOPORS):c.2344A>G (p.Thr782Ala)
|
rs746320974
|
0.00009
|
|
NM_005876.5(SPEG):c.8860G>A (p.Gly2954Ser)
|
rs377476081
|
0.00009
|
|
NM_005881.4(BCKDK):c.1104C>T (p.Phe368=)
|
rs201614853
|
0.00009
|
|
NM_005902.4(SMAD3):c.885G>A (p.Arg295=)
|
rs139616052
|
0.00009
|
|
NM_006005.3(WFS1):c.1657G>A (p.Gly553Ser)
|
rs150840308
|
0.00009
|
|
NM_006005.3(WFS1):c.173C>T (p.Ala58Val)
|
rs369671890
|
0.00009
|
|
NM_006005.3(WFS1):c.1759C>T (p.Arg587Trp)
|
rs138968466
|
0.00009
|
|
NM_006005.3(WFS1):c.2347T>C (p.Phe783Leu)
|
rs71526461
|
0.00009
|
|
NM_006005.3(WFS1):c.511G>A (p.Asp171Asn)
|
rs758281375
|
0.00009
|
|
NM_006005.3(WFS1):c.976G>A (p.Ala326Thr)
|
rs200790641
|
0.00009
|
|
NM_006016.6(CD164):c.330C>T (p.Ser110=)
|
rs199887608
|
0.00009
|
|
NM_006017.3(PROM1):c.2319C>T (p.Thr773=)
|
rs185335345
|
0.00009
|
|
NM_006017.3(PROM1):c.376G>A (p.Val126Met)
|
rs199556426
|
0.00009
|
|
NM_006019.4(TCIRG1):c.2119-10C>T
|
rs377606178
|
0.00009
|
|
NM_006031.6(PCNT):c.1155A>G (p.Ala385=)
|
rs201944549
|
0.00009
|
|
NM_006031.6(PCNT):c.236C>T (p.Pro79Leu)
|
rs745598788
|
0.00009
|
|
NM_006031.6(PCNT):c.4838C>T (p.Ala1613Val)
|
rs546562229
|
0.00009
|
|
NM_006031.6(PCNT):c.5477G>C (p.Gly1826Ala)
|
rs199847432
|
0.00009
|
|
NM_006031.6(PCNT):c.7300C>A (p.Leu2434Ile)
|
rs112633352
|
0.00009
|
|
NM_006031.6(PCNT):c.9099+8G>T
|
rs369178196
|
0.00009
|
|
NM_006031.6(PCNT):c.9334C>T (p.Pro3112Ser)
|
rs534490490
|
0.00009
|
|
NM_006158.5(NEFL):c.628G>C (p.Glu210Gln)
|
rs199422214
|
0.00009
|
|
NM_006206.6(PDGFRA):c.1319C>T (p.Thr440Met)
|
rs143344944
|
0.00009
|
|
NM_006206.6(PDGFRA):c.17C>T (p.Pro6Leu)
|
rs754092062
|
0.00009
|
|
NM_006231.4(POLE):c.2174-11G>A
|
rs111570840
|
0.00009
|
|
NM_006231.4(POLE):c.5769C>T (p.Gly1923=)
|
rs375198950
|
0.00009
|
|
NM_006348.5(COG5):c.292+14A>G
|
rs374007477
|
0.00009
|
|
NM_006363.6(SEC23B):c.434A>G (p.Gln145Arg)
|
rs140466726
|
0.00009
|
|
NM_006440.5(TXNRD2):c.135C>T (p.Val45=)
|
rs752213778
|
0.00009
|
|
NM_006493.4(CLN5):c.-4C>T
|
rs587780896
|
0.00009
|
|
NM_006506.5(RASA2):c.1674+16T>A
|
rs769778924
|
0.00009
|
|
NM_006514.4(SCN10A):c.1417G>C (p.Asp473His)
|
rs143920053
|
0.00009
|
|
NM_006514.4(SCN10A):c.3445G>A (p.Val1149Met)
|
rs560631745
|
0.00009
|
|
NM_006514.4(SCN10A):c.4139G>A (p.Arg1380Gln)
|
rs149155352
|
0.00009
|
|
NM_006514.4(SCN10A):c.5540G>A (p.Arg1847Gln)
|
rs148537653
|
0.00009
|
|
NM_006623.4(PHGDH):c.422C>T (p.Thr141Ile)
|
rs200037593
|
0.00009
|
|
NM_006662.3(SRCAP):c.5019G>A (p.Pro1673=)
|
rs202139170
|
0.00009
|
|
NM_006662.3(SRCAP):c.7173G>A (p.Pro2391=)
|
rs150413453
|
0.00009
|
|
NM_006757.4(TNNT3):c.328C>T (p.Arg110Cys)
|
rs144957238
|
0.00009
|
|
NM_006912.6(RIT1):c.634C>T (p.Arg212Trp)
|
rs563231684
|
0.00009
|
|
NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser)
|
rs561495878
|
0.00009
|
|
NM_006939.4(SOS2):c.3235A>G (p.Thr1079Ala)
|
rs61755576
|
0.00009
|
|
NM_006939.4(SOS2):c.721G>A (p.Glu241Lys)
|
rs148747022
|
0.00009
|
|
NM_006946.4(SPTBN2):c.2834G>A (p.Arg945His)
|
rs377663856
|
0.00009
|
|
NM_006996.3(SLC19A2):c.1486A>G (p.Thr496Ala)
|
rs769397647
|
0.00009
|
|
NM_007118.4(TRIO):c.8824C>G (p.Gln2942Glu)
|
rs377248579
|
0.00009
|
|
NM_007126.5(VCP):c.1202A>G (p.Asn401Ser)
|
rs148329626
|
0.00009
|
|
NM_007194.4(CHEK2):c.*7T>C
|
rs121908710
|
0.00009
|
|
NM_007194.4(CHEK2):c.1217G>A (p.Arg406His)
|
rs200649225
|
0.00009
|
|
NM_007194.4(CHEK2):c.556A>C (p.Asn186His)
|
rs146198085
|
0.00009
|
|
NM_007259.5(VPS45):c.1197C>A (p.Ser399Arg)
|
rs371572450
|
0.00009
|
|
NM_007272.3(CTRC):c.550G>A (p.Ala184Thr)
|
rs761546594
|
0.00009
|
|
NM_007272.3(CTRC):c.792+12C>A
|
rs371799801
|
0.00009
|
|
NM_007294.4(BRCA1):c.2352G>A (p.Ser784=)
|
rs372017932
|
0.00009
|
|
NM_007325.5(GRIA3):c.580G>A (p.Gly194Arg)
|
rs189437004
|
0.00009
|
|
NM_007327.4(GRIN1):c.610G>A (p.Val204Met)
|
rs140422926
|
0.00009
|
|
NM_007373.4(SHOC2):c.1477C>T (p.Leu493Phe)
|
rs1026930115
|
0.00009
|
|
NM_007373.4(SHOC2):c.355A>G (p.Ile119Val)
|
rs147068827
|
0.00009
|
|
NM_012144.4(DNAI1):c.1019+7A>G
|
rs200720794
|
0.00009
|
|
NM_012144.4(DNAI1):c.638C>T (p.Thr213Met)
|
rs201754555
|
0.00009
|
|
NM_012301.4(MAGI2):c.1737C>T (p.Asp579=)
|
rs142555732
|
0.00009
|
|
NM_012388.4(BLOC1S6):c.294G>T (p.Met98Ile)
|
rs574333116
|
0.00009
|
|
NM_012452.3(TNFRSF13B):c.577T>C (p.Cys193Arg)
|
rs764125338
|
0.00009
|
|
NM_013247.5(HTRA2):c.1046-13C>T
|
rs542851656
|
0.00009
|
|
NM_014000.3(VCL):c.3066C>T (p.Ile1022=)
|
rs138619320
|
0.00009
|
|
NM_014140.4(SMARCAL1):c.2322G>A (p.Ser774=)
|
rs139445683
|
0.00009
|
|
NM_014140.4(SMARCAL1):c.812-15T>C
|
rs375588610
|
0.00009
|
|
NM_014252.4(SLC25A15):c.147C>G (p.Asp49Glu)
|
rs187685447
|
0.00009
|
|
NM_014319.5(LEMD3):c.282C>G (p.Val94=)
|
rs867412512
|
0.00009
|
|
NM_014363.6(SACS):c.12260A>G (p.Tyr4087Cys)
|
rs373478772
|
0.00009
|
|
NM_014363.6(SACS):c.5744A>G (p.His1915Arg)
|
rs144822691
|
0.00009
|
|
NM_014365.3(HSPB8):c.14A>G (p.Gln5Arg)
|
rs146900850
|
0.00009
|
|
NM_014384.3(ACAD8):c.110-9T>C
|
rs371550147
|
0.00009
|
|
NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys)
|
rs142106374
|
0.00009
|
|
NM_014727.3(KMT2B):c.6760C>A (p.Pro2254Thr)
|
rs763536557
|
0.00009
|
|
NM_014727.3(KMT2B):c.886G>A (p.Gly296Ser)
|
rs201417711
|
0.00009
|
|
NM_014795.4(ZEB2):c.3219C>T (p.His1073=)
|
rs139944383
|
0.00009
|
|
NM_014806.5(RUSC2):c.2013C>T (p.Asp671=)
|
rs147747906
|
0.00009
|
|
NM_014855.3(AP5Z1):c.259G>A (p.Ala87Thr)
|
rs775883752
|
0.00009
|
|
NM_014908.4(DOLK):c.192A>G (p.Leu64=)
|
rs563156233
|
0.00009
|
|
NM_014915.3(ANKRD26):c.2559+10T>A
|
rs768668962
|
0.00009
|
|
NM_015046.7(SETX):c.2750T>C (p.Met917Thr)
|
rs376022544
|
0.00009
|
|
NM_015100.4(POGZ):c.407A>G (p.Asn136Ser)
|
rs141132016
|
0.00009
|
|
NM_015102.5(NPHP4):c.3012G>A (p.Thr1004=)
|
rs185162256
|
0.00009
|
|
NM_015107.3(PHF8):c.-4G>A
|
rs782532619
|
0.00009
|
|
NM_015166.4(MLC1):c.93C>T (p.Asp31=)
|
rs199625892
|
0.00009
|
|
NM_015214.3(DDHD2):c.277T>C (p.Leu93=)
|
rs544728429
|
0.00009
|
|
NM_015311.3(OBSL1):c.342C>T (p.Ala114=)
|
rs760053992
|
0.00009
|
|
NM_015311.3(OBSL1):c.993C>A (p.Ala331=)
|
rs771686909
|
0.00009
|
|
NM_015338.6(ASXL1):c.4099G>A (p.Val1367Ile)
|
rs147456014
|
0.00009
|
|
NM_015386.3(COG4):c.2251G>A (p.Asp751Asn)
|
rs200083914
|
0.00009
|
|
NM_015570.4(AUTS2):c.1660G>A (p.Ala554Thr)
|
rs367855382
|
0.00009
|
|
NM_015629.4(PRPF31):c.1374+9C>T
|
rs727504108
|
0.00009
|
|
NM_015702.3(MMADHC):c.-16A>G
|
rs144111552
|
0.00009
|
|
NM_015713.5(RRM2B):c.205-3C>T
|
rs572671956
|
0.00009
|
|
NM_015726.4(DCAF8):c.1233T>C (p.Ile411=)
|
rs142352428
|
0.00009
|
|
NM_015909.4(NBAS):c.1438T>C (p.Ser480Pro)
|
rs140555177
|
0.00009
|
|
NM_015909.4(NBAS):c.4302T>C (p.Asp1434=)
|
rs371633490
|
0.00009
|
|
NM_015910.7(WDPCP):c.990A>G (p.Ser330=)
|
rs371090606
|
0.00009
|
|
NM_015915.5(ATL1):c.322A>G (p.Thr108Ala)
|
rs112496709
|
0.00009
|
|
NM_016065.4(MRPS16):c.380C>T (p.Ala127Val)
|
rs767062387
|
0.00009
|
|
NM_016203.4(PRKAG2):c.1644G>A (p.Ser548=)
|
rs376450705
|
0.00009
|
|
NM_016239.4(MYO15A):c.10154T>C (p.Val3385Ala)
|
rs376432083
|
0.00009
|
|
NM_016239.4(MYO15A):c.1613G>A (p.Arg538His)
|
rs552189642
|
0.00009
|
|
NM_016239.4(MYO15A):c.5803C>G (p.Arg1935Gly)
|
rs200041829
|
0.00009
|
|
NM_016239.4(MYO15A):c.8528A>G (p.Lys2843Arg)
|
rs201542989
|
0.00009
|
|
NM_016239.4(MYO15A):c.8816G>A (p.Arg2939His)
|
rs377389290
|
0.00009
|
|
NM_016356.5(DCDC2):c.68G>T (p.Arg23Leu)
|
rs745333409
|
0.00009
|
|
NM_016366.3(CABP2):c.516C>T (p.Ile172=)
|
rs757281872
|
0.00009
|
|
NM_016373.4(WWOX):c.1228G>T (p.Gly410Cys)
|
rs76204496
|
0.00009
|
|
NM_016373.4(WWOX):c.406A>G (p.Ile136Val)
|
rs193027041
|
0.00009
|
|
NM_017433.5(MYO3A):c.610G>A (p.Asp204Asn)
|
rs3737274
|
0.00009
|
|
NM_017617.5(NOTCH1):c.1725C>T (p.Cys575=)
|
rs369070550
|
0.00009
|
|
NM_017636.4(TRPM4):c.2133-9C>G
|
rs530013543
|
0.00009
|
|
NM_017777.4(MKS1):c.516-10T>C
|
rs375046501
|
0.00009
|
|
NM_017777.4(MKS1):c.858+6C>T
|
rs368774719
|
0.00009
|
|
NM_017780.4(CHD7):c.1375C>T (p.Arg459Cys)
|
rs753953205
|
0.00009
|
|
NM_017866.6(TMEM70):c.555T>G (p.Asn185Lys)
|
rs199655842
|
0.00009
|
|
NM_017882.3(CLN6):c.298-15C>T
|
rs368661456
|
0.00009
|
|
NM_017950.4(CCDC40):c.2911G>A (p.Val971Ile)
|
rs746632559
|
0.00009
|
|
NM_018006.5(TRMU):c.1188C>G (p.Gly396=)
|
rs142346622
|
0.00009
|
|
NM_018006.5(TRMU):c.351T>C (p.Asn117=)
|
rs117710834
|
0.00009
|
|
NM_018136.5(ASPM):c.2994G>A (p.Pro998=)
|
rs554545885
|
0.00009
|
|
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro)
|
rs193251130
|
0.00009
|
|
NM_018249.6(CDK5RAP2):c.2482A>G (p.Lys828Glu)
|
rs549081765
|
0.00009
|
|
NM_018249.6(CDK5RAP2):c.4338T>A (p.Ser1446Arg)
|
rs143341041
|
0.00009
|
|
NM_018444.4(PDP1):c.128G>A (p.Arg43Gln)
|
rs201081450
|
0.00009
|
|
NM_018714.3(COG1):c.1722C>T (p.Ser574=)
|
rs149888309
|
0.00009
|
|
NM_018896.5(CACNA1G):c.688G>A (p.Val230Ile)
|
rs768796872
|
0.00009
|
|
NM_018972.4(GDAP1):c.693A>T (p.Pro231=)
|
rs181157785
|
0.00009
|
|
NM_018979.4(WNK1):c.5714T>A (p.Val1905Glu)
|
rs759895083
|
0.00009
|
|
NM_018993.4(RIN2):c.404G>A (p.Arg135His)
|
rs200460217
|
0.00009
|
|
NM_019066.5(MAGEL2):c.474A>G (p.Pro158=)
|
rs750481560
|
0.00009
|
|
NM_019098.5(CNGB3):c.2086C>T (p.Arg696Ter)
|
rs192448853
|
0.00009
|
|
NM_019098.5(CNGB3):c.503C>T (p.Thr168Met)
|
rs755130011
|
0.00009
|
|
NM_019594.4(LRRC8A):c.2113G>A (p.Gly705Ser)
|
rs766749712
|
0.00009
|
|
NM_019892.6(INPP5E):c.304G>T (p.Asp102Tyr)
|
rs187724945
|
0.00009
|
|
NM_020166.5(MCCC1):c.294C>T (p.Ile98=)
|
rs368288499
|
0.00009
|
|
NM_020376.4(PNPLA2):c.1181C>A (p.Pro394Gln)
|
rs373114735
|
0.00009
|
|
NM_020442.6(VARS2):c.283+3A>G
|
rs367960344
|
0.00009
|
|
NM_020458.4(TTC7A):c.1570G>T (p.Ala524Ser)
|
rs201008860
|
0.00009
|
|
NM_020533.3(MCOLN1):c.1179G>A (p.Ser393=)
|
rs201232288
|
0.00009
|
|
NM_020533.3(MCOLN1):c.213C>T (p.Val71=)
|
rs201157863
|
0.00009
|
|
NM_020549.5(CHAT):c.964C>T (p.Arg322Cys)
|
rs147815999
|
0.00009
|
|
NM_020686.6(ABAT):c.1158G>A (p.Pro386=)
|
rs374865268
|
0.00009
|
|
NM_020686.6(ABAT):c.26G>A (p.Arg9His)
|
rs531783337
|
0.00009
|
|
NM_020708.5(SLC12A5):c.3260-3C>A
|
rs762852631
|
0.00009
|
|
NM_020778.5(ALPK3):c.2181G>C (p.Glu727Asp)
|
rs56191073
|
0.00009
|
|
NM_020821.3(VPS13C):c.864A>G (p.Ile288Met)
|
rs751295864
|
0.00009
|
|
NM_020822.3(KCNT1):c.2008+10G>C
|
rs752453368
|
0.00009
|
|
NM_020822.3(KCNT1):c.2052G>A (p.Thr684=)
|
rs376314779
|
0.00009
|
|
NM_020822.3(KCNT1):c.981G>A (p.Ser327=)
|
rs373317695
|
0.00009
|
|
NM_020975.6(RET):c.2261C>T (p.Thr754Met)
|
rs181856591
|
0.00009
|
|
NM_020975.6(RET):c.2657G>A (p.Arg886Gln)
|
rs373594744
|
0.00009
|
|
NM_020975.6(RET):c.961G>A (p.Gly321Arg)
|
rs377767388
|
0.00009
|
|
NM_020987.5(ANK3):c.4314A>G (p.Ala1438=)
|
rs199845615
|
0.00009
|
|
NM_021076.4(NEFH):c.256G>A (p.Gly86Ser)
|
rs918913612
|
0.00009
|
|
NM_021784.5(FOXA2):c.1001C>T (p.Ala334Val)
|
rs199796119
|
0.00009
|
|
NM_021803.4(IL21):c.127A>T (p.Ile43Leu)
|
rs374097344
|
0.00009
|
|
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln)
|
rs369223258
|
0.00009
|
|
NM_021922.3(FANCE):c.52C>T (p.Pro18Ser)
|
rs552241929
|
0.00009
|
|
NM_022042.4(SLC26A1):c.747G>A (p.Trp249Ter)
|
rs536555705
|
0.00009
|
|
NM_022081.6(HPS4):c.373C>G (p.Leu125Val)
|
rs180729981
|
0.00009
|
|
NM_022089.4(ATP13A2):c.3518C>T (p.Pro1173Leu)
|
rs372995036
|
0.00009
|
|
NM_022089.4(ATP13A2):c.35C>T (p.Thr12Met)
|
rs151117874
|
0.00009
|
|
NM_022098.4(XPNPEP3):c.388C>G (p.Pro130Ala)
|
rs199693203
|
0.00009
|
|
NM_022098.4(XPNPEP3):c.792+13T>C
|
rs376777685
|
0.00009
|
|
NM_022124.6(CDH23):c.1213G>A (p.Val405Ile)
|
rs370549448
|
0.00009
|
|
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn)
|
rs188376296
|
0.00009
|
|
NM_022124.6(CDH23):c.2394C>T (p.Thr798=)
|
rs373269394
|
0.00009
|
|
NM_022124.6(CDH23):c.3070G>A (p.Val1024Met)
|
rs397517319
|
0.00009
|
|
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met)
|
rs200632520
|
0.00009
|
|
NM_022124.6(CDH23):c.7999G>C (p.Asp2667His)
|
rs200251748
|
0.00009
|
|
NM_022124.6(CDH23):c.8979+4C>T
|
rs775540400
|
0.00009
|
|
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His)
|
rs148475933
|
0.00009
|
|
NM_022356.4(P3H1):c.327C>T (p.Phe109=)
|
rs370773974
|
0.00009
|
|
NM_022437.3(ABCG8):c.870C>T (p.Thr290=)
|
rs117221284
|
0.00009
|
|
NM_022455.5(NSD1):c.1364T>C (p.Met455Thr)
|
rs143585233
|
0.00009
|
|
NM_022455.5(NSD1):c.4187C>T (p.Thr1396Met)
|
rs747298351
|
0.00009
|
|
NM_022455.5(NSD1):c.72C>T (p.Ala24=)
|
rs147146776
|
0.00009
|
|
NM_023036.6(DNAI2):c.1698C>T (p.Asp566=)
|
rs142710343
|
0.00009
|
|
NM_023110.3(FGFR1):c.1978-8del
|
rs112311314
|
0.00009
|
|
NM_024105.4(ALG12):c.243G>A (p.Ala81=)
|
rs564172046
|
0.00009
|
|
NM_024334.3(TMEM43):c.271A>G (p.Ile91Val)
|
rs144811578
|
0.00009
|
|
NM_024408.4(NOTCH2):c.6477G>A (p.Thr2159=)
|
rs145566650
|
0.00009
|
|
NM_024422.6(DSC2):c.2251-5T>G
|
rs374262463
|
0.00009
|
|
NM_024422.6(DSC2):c.23G>T (p.Gly8Val)
|
rs794728063
|
0.00009
|
|
NM_024422.6(DSC2):c.82G>T (p.Ala28Ser)
|
rs139979318
|
0.00009
|
|
NM_024426.6(WT1):c.421C>T (p.Pro141Ser)
|
rs750548251
|
0.00009
|
|
NM_024577.4(SH3TC2):c.1002-7G>A
|
rs752528409
|
0.00009
|
|
NM_024649.5(BBS1):c.1634A>G (p.Asn545Ser)
|
rs148948642
|
0.00009
|
|
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg)
|
rs515726072
|
0.00009
|
|
NM_024675.4(PALB2):c.2379C>T (p.Gly793=)
|
rs377626805
|
0.00009
|
|
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu)
|
rs62625271
|
0.00009
|
|
NM_024675.4(PALB2):c.344G>T (p.Gly115Val)
|
rs145598272
|
0.00009
|
|
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr)
|
rs200283306
|
0.00009
|
|
NM_024685.4(BBS10):c.1333C>A (p.Leu445Ile)
|
rs199878555
|
0.00009
|
|
NM_024753.5(TTC21B):c.1883G>A (p.Arg628His)
|
rs139653847
|
0.00009
|
|
NM_024757.5(EHMT1):c.150G>A (p.Ala50=)
|
rs371344592
|
0.00009
|
|
NM_024757.5(EHMT1):c.3848A>C (p.Glu1283Ala)
|
rs398124408
|
0.00009
|
|
NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys)
|
rs373269573
|
0.00009
|
|
NM_024876.4(COQ8B):c.1035+3A>G
|
rs368182892
|
0.00009
|
|
NM_024884.3(L2HGDH):c.1174A>G (p.Ile392Val)
|
rs373172891
|
0.00009
|
|
NM_025000.4(DCAF17):c.192A>G (p.Gly64=)
|
rs200189652
|
0.00009
|
|
NM_025099.6(CTC1):c.1958G>A (p.Arg653Gln)
|
rs775779700
|
0.00009
|
|
NM_025137.4(SPG11):c.1457-4A>G
|
rs773844127
|
0.00009
|
|
NM_025137.4(SPG11):c.6278G>A (p.Arg2093His)
|
rs376817637
|
0.00009
|
|
NM_025193.4(HSD3B7):c.*1C>T
|
rs781013516
|
0.00009
|
|
NM_025215.6(PUS1):c.207C>G (p.Leu69=)
|
rs140067992
|
0.00009
|
|
NM_025243.4(SLC19A3):c.325G>A (p.Val109Ile)
|
rs780569649
|
0.00009
|
|
NM_030662.4(MAP2K2):c.919+4C>T
|
rs763424788
|
0.00009
|
|
NM_030665.4(RAI1):c.1925C>T (p.Ser642Leu)
|
rs200061071
|
0.00009
|
|
NM_031433.4(MFRP):c.897G>A (p.Ser299=)
|
rs150284394
|
0.00009
|
|
NM_031466.8(TRAPPC9):c.-24G>A
|
rs370984854
|
0.00009
|
|
NM_031475.3(ESPN):c.2406-4C>T
|
rs148975469
|
0.00009
|
|
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys)
|
rs587780247
|
0.00009
|
|
NM_032119.4(ADGRV1):c.10873C>G (p.Leu3625Val)
|
rs761066341
|
0.00009
|
|
NM_032119.4(ADGRV1):c.12128T>C (p.Ile4043Thr)
|
rs375632680
|
0.00009
|
|
NM_032119.4(ADGRV1):c.14373T>A (p.Ala4791=)
|
rs375062187
|
0.00009
|
|
NM_032119.4(ADGRV1):c.16079-11C>G
|
rs374007277
|
0.00009
|
|
NM_032119.4(ADGRV1):c.16874C>T (p.Ser5625Leu)
|
rs373862154
|
0.00009
|
|
NM_032119.4(ADGRV1):c.4681G>A (p.Ala1561Thr)
|
rs376316770
|
0.00009
|
|
NM_032119.4(ADGRV1):c.6938C>T (p.Pro2313Leu)
|
rs199571511
|
0.00009
|
|
NM_032119.4(ADGRV1):c.8396C>T (p.Pro2799Leu)
|
rs200179979
|
0.00009
|
|
NM_032119.4(ADGRV1):c.8779G>A (p.Val2927Ile)
|
rs547397177
|
0.00009
|
|
NM_032119.4(ADGRV1):c.8995C>G (p.Gln2999Glu)
|
rs200503628
|
0.00009
|
|
NM_032444.4(SLX4):c.2006G>A (p.Arg669His)
|
rs200807331
|
0.00009
|
|
NM_032520.5(GNPTG):c.713G>A (p.Gly238Glu)
|
rs202080062
|
0.00009
|
|
NM_032578.4(MYPN):c.2260A>C (p.Ile754Leu)
|
rs201245117
|
0.00009
|
|
NM_032638.5(GATA2):c.445G>A (p.Gly149Arg)
|
rs753645971
|
0.00009
|
|
NM_032737.4(LMNB2):c.1553C>T (p.Thr518Met)
|
rs368745985
|
0.00009
|
|
NM_033100.4(CDHR1):c.784-3G>A
|
rs201384219
|
0.00009
|
|
NM_033109.5(PNPT1):c.516C>T (p.Gly172=)
|
rs372627112
|
0.00009
|
|
NM_033629.6(TREX1):c.623G>C (p.Cys208Ser)
|
rs146524913
|
0.00009
|
|
NM_052845.4(MMAB):c.387G>A (p.Ala129=)
|
rs549807022
|
0.00009
|
|
NM_052845.4(MMAB):c.561C>T (p.Ala187=)
|
rs370773720
|
0.00009
|
|
NM_052867.4(NALCN):c.883C>T (p.Arg295Cys)
|
rs372035044
|
0.00009
|
|
NM_053025.4(MYLK):c.2589G>A (p.Glu863=)
|
rs536506601
|
0.00009
|
|
NM_053025.4(MYLK):c.4725C>T (p.Tyr1575=)
|
rs374665486
|
0.00009
|
|
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala)
|
rs587780256
|
0.00009
|
|
NM_078470.6(COX15):c.106C>T (p.Arg36Cys)
|
rs151116399
|
0.00009
|
|
NM_080680.3(COL11A2):c.4392C>T (p.Pro1464=)
|
rs372419316
|
0.00009
|
|
NM_130837.3(OPA1):c.2099A>G (p.Asn700Ser)
|
rs142694017
|
0.00009
|
|
NM_130837.3(OPA1):c.790-4T>A
|
rs374509936
|
0.00009
|
|
NM_130839.5(UBE3A):c.1338T>C (p.Phe446=)
|
rs371154816
|
0.00009
|
|
NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser)
|
rs139928148
|
0.00009
|
|
NM_130849.4(SLC39A4):c.1149+9C>T
|
rs139192292
|
0.00009
|
|
NM_130849.4(SLC39A4):c.804+9C>T
|
rs200693339
|
0.00009
|
|
NM_133379.5(TTN):c.13589T>G (p.Ile4530Arg)
|
rs200066725
|
0.00009
|
|
NM_133379.5(TTN):c.13746A>G (p.Gln4582=)
|
rs201945197
|
0.00009
|
|
NM_133433.4(NIPBL):c.4374T>G (p.Thr1458=)
|
rs749296628
|
0.00009
|
|
NM_133433.4(NIPBL):c.5511A>G (p.Arg1837=)
|
rs146702130
|
0.00009
|
|
NM_138694.4(PKHD1):c.10354A>G (p.Thr3452Ala)
|
rs562503637
|
0.00009
|
|
NM_138694.4(PKHD1):c.2162C>T (p.Thr721Met)
|
rs140608845
|
0.00009
|
|
NM_138694.4(PKHD1):c.2444A>G (p.Gln815Arg)
|
rs145789167
|
0.00009
|
|
NM_138694.4(PKHD1):c.282-3C>T
|
rs535210707
|
0.00009
|
|
NM_138694.4(PKHD1):c.4866C>A (p.Leu1622=)
|
rs571966529
|
0.00009
|
|
NM_138694.4(PKHD1):c.5193G>A (p.Val1731=)
|
rs146531432
|
0.00009
|
|
NM_138694.4(PKHD1):c.6924C>T (p.Ala2308=)
|
rs373795139
|
0.00009
|
|
NM_138694.4(PKHD1):c.8364C>T (p.Thr2788=)
|
rs777017196
|
0.00009
|
|
NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=)
|
rs760710708
|
0.00009
|
|
NM_138694.4(PKHD1):c.9663G>A (p.Pro3221=)
|
rs371508721
|
0.00009
|
|
NM_138694.4(PKHD1):c.9714A>G (p.Gly3238=)
|
rs754654892
|
0.00009
|
|
NM_139242.4(MTFMT):c.1094G>A (p.Cys365Tyr)
|
rs190189891
|
0.00009
|
|
NM_144508.5(KNL1):c.606C>T (p.Ser202=)
|
rs776234628
|
0.00009
|
|
NM_144573.4(NEXN):c.1435C>T (p.Leu479Phe)
|
rs181520023
|
0.00009
|
|
NM_144573.4(NEXN):c.856C>T (p.Arg286Trp)
|
rs199917913
|
0.00009
|
|
NM_144599.5(NIPA1):c.266C>T (p.Ala89Val)
|
rs548931873
|
0.00009
|
|
NM_144670.6(A2ML1):c.2677C>T (p.Arg893Ter)
|
rs199651558
|
0.00009
|
|
NM_144670.6(A2ML1):c.827C>G (p.Pro276Arg)
|
rs201979319
|
0.00009
|
|
NM_144672.4(OTOA):c.2153A>G (p.Asp718Gly)
|
rs767518359
|
0.00009
|
|
NM_144687.4(NLRP12):c.1349C>T (p.Pro450Leu)
|
rs143640165
|
0.00009
|
|
NM_144687.4(NLRP12):c.2831G>A (p.Arg944Gln)
|
rs200742741
|
0.00009
|
|
NM_147127.5(EVC2):c.765C>T (p.Asn255=)
|
rs139129327
|
0.00009
|
|
NM_152296.5(ATP1A3):c.607-7C>A
|
rs782819736
|
0.00009
|
|
NM_152383.5(DIS3L2):c.210+10A>G
|
rs201117797
|
0.00009
|
|
NM_152419.3(HGSNAT):c.741G>A (p.Arg247=)
|
rs775663094
|
0.00009
|
|
NM_152564.5(VPS13B):c.10868-7G>A
|
rs376141593
|
0.00009
|
|
NM_152564.5(VPS13B):c.11897A>T (p.Lys3966Ile)
|
rs117934093
|
0.00009
|
|
NM_152564.5(VPS13B):c.7780-19C>T
|
rs199981958
|
0.00009
|
|
NM_152564.5(VPS13B):c.9013A>G (p.Ile3005Val)
|
rs142110082
|
0.00009
|
|
NM_152783.5(D2HGDH):c.567G>A (p.Pro189=)
|
rs140447217
|
0.00009
|
|
NM_153676.4(USH1C):c.2124T>C (p.Ser708=)
|
rs369021714
|
0.00009
|
|
NM_153676.4(USH1C):c.2566G>A (p.Val856Ile)
|
rs201308481
|
0.00009
|
|
NM_153676.4(USH1C):c.2630G>A (p.Gly877Glu)
|
rs371856107
|
0.00009
|
|
NM_170682.4(P2RX2):c.1133T>C (p.Phe378Ser)
|
rs143626910
|
0.00009
|
|
NM_170682.4(P2RX2):c.673C>G (p.Arg225Gly)
|
rs202099523
|
0.00009
|
|
NM_170699.3(GPBAR1):c.-1G>A
|
rs200558126
|
0.00009
|
|
NM_172201.2(KCNE2):c.369_370del (p.Ter124IleextTer?)
|
rs45610936
|
0.00009
|
|
NM_172250.3(MMAA):c.440-6C>T
|
rs374784209
|
0.00009
|
|
NM_173076.3(ABCA12):c.1446A>C (p.Glu482Asp)
|
rs368135271
|
0.00009
|
|
NM_173630.4(RTTN):c.4564+4A>C
|
rs368489465
|
0.00009
|
|
NM_174934.4(SCN4B):c.22G>A (p.Gly8Ser)
|
rs149868494
|
0.00009
|
|
NM_175875.5(SIX5):c.886G>A (p.Ala296Thr)
|
rs80356462
|
0.00009
|
|
NM_175914.5(HNF4A):c.427-5C>T
|
rs374703326
|
0.00009
|
|
NM_175914.5(HNF4A):c.464G>A (p.Arg155Gln)
|
rs142883089
|
0.00009
|
|
NM_177438.3(DICER1):c.5527+7T>A
|
rs375239471
|
0.00009
|
|
NM_177972.3(TUB):c.1389G>A (p.Pro463=)
|
rs200511292
|
0.00009
|
|
NM_181303.2(NLGN3):c.10C>T (p.Arg4Trp)
|
rs376877146
|
0.00009
|
|
NM_182914.3(SYNE2):c.10760C>T (p.Ser3587Phe)
|
rs748430621
|
0.00009
|
|
NM_182914.3(SYNE2):c.18550C>T (p.Arg6184Trp)
|
rs761998546
|
0.00009
|
|
NM_182914.3(SYNE2):c.19323C>T (p.Ser6441=)
|
rs186839881
|
0.00009
|
|
NM_182914.3(SYNE2):c.907A>G (p.Met303Val)
|
rs377535370
|
0.00009
|
|
NM_182961.4(SYNE1):c.13421G>A (p.Arg4474Gln)
|
rs771898973
|
0.00009
|
|
NM_182961.4(SYNE1):c.18309G>A (p.Lys6103=)
|
rs759825628
|
0.00009
|
|
NM_182961.4(SYNE1):c.21705G>A (p.Lys7235=)
|
rs148606479
|
0.00009
|
|
NM_182961.4(SYNE1):c.2427G>A (p.Glu809=)
|
rs749509412
|
0.00009
|
|
NM_182961.4(SYNE1):c.24977-1718G>A
|
rs370143116
|
0.00009
|
|
NM_183075.3(CYP2U1):c.629T>C (p.Met210Thr)
|
rs143913941
|
0.00009
|
|
NM_194248.3(OTOF):c.337T>C (p.Cys113Arg)
|
rs146615166
|
0.00009
|
|
NM_194248.3(OTOF):c.3746G>A (p.Arg1249Gln)
|
rs200312028
|
0.00009
|
|
NM_194248.3(OTOF):c.4559G>A (p.Arg1520Gln)
|
rs80356601
|
0.00009
|
|
NM_194248.3(OTOF):c.4820G>A (p.Arg1607Gln)
|
rs141800430
|
0.00009
|
|
NM_198075.4(LRRC56):c.326+6C>T
|
rs375099791
|
0.00009
|
|
NM_198253.3(TERT):c.1974G>A (p.Val658=)
|
rs778496417
|
0.00009
|
|
NM_198525.3(KIF7):c.72A>C (p.Pro24=)
|
rs773325406
|
0.00009
|
|
NM_198578.4(LRRK2):c.1073C>T (p.Thr358Met)
|
rs141262110
|
0.00009
|
|
NM_198578.4(LRRK2):c.3960G>T (p.Arg1320Ser)
|
rs77018758
|
0.00009
|
|
NM_198586.3(NHLRC1):c.1091C>T (p.Ser364Leu)
|
rs78324544
|
0.00009
|
|
NM_199242.3(UNC13D):c.2553+12G>A
|
rs560520169
|
0.00009
|
|
NM_201253.3(CRB1):c.2809G>A (p.Ala937Thr)
|
rs114630940
|
0.00009
|
|
NM_201384.3(PLEC):c.10157C>T (p.Ala3386Val)
|
rs532234200
|
0.00009
|
|
NM_201384.3(PLEC):c.10459G>A (p.Val3487Met)
|
rs202001247
|
0.00009
|
|
NM_201384.3(PLEC):c.10728C>T (p.Gly3576=)
|
rs372840016
|
0.00009
|
|
NM_201384.3(PLEC):c.11077G>A (p.Ala3693Thr)
|
rs369497741
|
0.00009
|
|
NM_201384.3(PLEC):c.11288C>T (p.Ser3763Leu)
|
rs377598440
|
0.00009
|
|
NM_201384.3(PLEC):c.113-6C>T
|
rs782235036
|
0.00009
|
|
NM_201384.3(PLEC):c.12564C>T (p.Gly4188=)
|
rs140191309
|
0.00009
|
|
NM_201384.3(PLEC):c.12783C>T (p.Ala4261=)
|
rs377524932
|
0.00009
|
|
NM_201384.3(PLEC):c.4855G>A (p.Glu1619Lys)
|
rs782026068
|
0.00009
|
|
NM_201384.3(PLEC):c.6248C>T (p.Ala2083Val)
|
rs781878105
|
0.00009
|
|
NM_201384.3(PLEC):c.6464C>T (p.Ala2155Val)
|
rs201922111
|
0.00009
|
|
NM_201384.3(PLEC):c.9167C>A (p.Ala3056Asp)
|
rs373831849
|
0.00009
|
|
NM_201384.3(PLEC):c.9576C>T (p.Tyr3192=)
|
rs201460864
|
0.00009
|
|
NM_206933.4(USH2A):c.10826G>T (p.Ser3609Ile)
|
rs727504307
|
0.00009
|
|
NM_206933.4(USH2A):c.11013T>G (p.Pro3671=)
|
rs777699434
|
0.00009
|
|
NM_206933.4(USH2A):c.14902G>A (p.Asp4968Asn)
|
rs764124390
|
0.00009
|
|
NM_206933.4(USH2A):c.6537T>C (p.Tyr2179=)
|
rs768759268
|
0.00009
|
|
NM_206933.4(USH2A):c.9401G>A (p.Arg3134Gln)
|
rs780020144
|
0.00009
|
|
NM_206933.4(USH2A):c.9614G>A (p.Arg3205His)
|
rs200726531
|
0.00009
|
|
NM_213599.3(ANO5):c.1332+8A>G
|
rs368857740
|
0.00009
|
|
NM_213655.5(WNK1):c.3107C>T (p.Ala1036Val)
|
rs187534119
|
0.00009
|
|
NM_000018.4(ACADVL):c.1182+17C>A
|
rs191276923
|
0.00008
|
|
NM_000033.4(ABCD1):c.821G>A (p.Arg274Gln)
|
rs781874815
|
0.00008
|
|
NM_000036.2(AMPD1):c.24T>C (p.Ser8=)
|
rs377496676
|
0.00008
|
|
NM_000037.4(ANK1):c.1859G>A (p.Ser620Asn)
|
rs750068521
|
0.00008
|
|
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys)
|
rs367905430
|
0.00008
|
|
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly)
|
rs201375478
|
0.00008
|
|
NM_000038.6(APC):c.721G>A (p.Glu241Lys)
|
rs777603154
|
0.00008
|
|
NM_000038.6(APC):c.7471A>G (p.Met2491Val)
|
rs375674083
|
0.00008
|
|
NM_000048.4(ASL):c.1342G>A (p.Val448Ile)
|
rs139410488
|
0.00008
|
|
NM_000048.4(ASL):c.72C>T (p.Phe24=)
|
rs760059034
|
0.00008
|
|
NM_000049.4(ASPA):c.237-6T>C
|
rs370219865
|
0.00008
|
|
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu)
|
rs200431631
|
0.00008
|
|
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg)
|
rs587779867
|
0.00008
|
|
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys)
|
rs140387675
|
0.00008
|
|
NM_000057.4(BLM):c.664G>A (p.Glu222Lys)
|
rs774075577
|
0.00008
|
|
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg)
|
rs80358730
|
0.00008
|
|
NM_000059.4(BRCA2):c.517-4C>G
|
rs81002804
|
0.00008
|
|
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys)
|
rs55996097
|
0.00008
|
|
NM_000059.4(BRCA2):c.9501+3A>T
|
rs61757642
|
0.00008
|
|
NM_000059.4(BRCA2):c.9872C>G (p.Ser3291Cys)
|
rs200210279
|
0.00008
|
|
NM_000069.3(CACNA1S):c.4679G>A (p.Arg1560Gln)
|
rs372436488
|
0.00008
|
|
NM_000070.3(CAPN3):c.1045G>C (p.Glu349Gln)
|
rs146403258
|
0.00008
|
|
NM_000075.4(CDK4):c.886C>T (p.His296Tyr)
|
rs2227954
|
0.00008
|
|
NM_000081.4(LYST):c.7627+6A>T
|
rs749282192
|
0.00008
|
|
NM_000081.4(LYST):c.9520G>A (p.Val3174Ile)
|
rs199672291
|
0.00008
|
|
NM_000092.5(COL4A4):c.1460-6G>A
|
rs771213140
|
0.00008
|
|
NM_000092.5(COL4A4):c.4678C>T (p.Arg1560Cys)
|
rs200973262
|
0.00008
|
|
NM_000094.4(COL7A1):c.1604C>A (p.Thr535Asn)
|
rs200868430
|
0.00008
|
|
NM_000094.4(COL7A1):c.5459C>G (p.Pro1820Arg)
|
rs143037856
|
0.00008
|
|
NM_000094.4(COL7A1):c.7037G>A (p.Arg2346His)
|
rs201432371
|
0.00008
|
|
NM_000124.4(ERCC6):c.4143C>T (p.Ser1381=)
|
rs375921453
|
0.00008
|
|
NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser)
|
rs367880372
|
0.00008
|
|
NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp)
|
rs199601218
|
0.00008
|
|
NM_000135.4(FANCA):c.869C>A (p.Ser290Tyr)
|
rs185984960
|
0.00008
|
|
NM_000138.5(FBN1):c.3226A>C (p.Ile1076Leu)
|
rs201156527
|
0.00008
|
|
NM_000142.5(FGFR3):c.1830C>G (p.Ser610=)
|
rs758618182
|
0.00008
|
|
NM_000142.5(FGFR3):c.335G>A (p.Arg112Gln)
|
rs758163128
|
0.00008
|
|
NM_000142.5(FGFR3):c.707G>A (p.Ser236Asn)
|
rs200495316
|
0.00008
|
|
NM_000152.5(GAA):c.1194+3G>C
|
rs368539333
|
0.00008
|
|
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln)
|
rs2229224
|
0.00008
|
|
NM_000152.5(GAA):c.2041-4G>T
|
rs775757700
|
0.00008
|
|
NM_000152.5(GAA):c.2320G>A (p.Asp774Asn)
|
rs758390382
|
0.00008
|
|
NM_000159.4(GCDH):c.1299G>A (p.Ala433=)
|
rs150271870
|
0.00008
|
|
NM_000166.6(GJB1):c.-101C>T
|
rs961829342
|
0.00008
|
|
NM_000168.6(GLI3):c.1182A>G (p.Pro394=)
|
rs748606221
|
0.00008
|
|
NM_000179.3(MSH6):c.1474A>G (p.Met492Val)
|
rs61754783
|
0.00008
|
|
NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly)
|
rs199876321
|
0.00008
|
|
NM_000195.5(HPS1):c.778C>T (p.Arg260Trp)
|
rs564590745
|
0.00008
|
|
NM_000208.4(INSR):c.2256C>G (p.Ala752=)
|
rs376497490
|
0.00008
|
|
NM_000208.4(INSR):c.2598C>T (p.Val866=)
|
rs797045625
|
0.00008
|
|
NM_000212.3(ITGB3):c.180C>T (p.Gly60=)
|
rs373101628
|
0.00008
|
|
NM_000215.4(JAK3):c.362G>A (p.Arg121His)
|
rs143586866
|
0.00008
|
|
NM_000222.3(KIT):c.2867G>A (p.Arg956Gln)
|
rs139694927
|
0.00008
|
|
NM_000233.4(LHCGR):c.1169A>G (p.Lys390Arg)
|
rs549696399
|
0.00008
|
|
NM_000235.4(LIPA):c.483T>C (p.Asn161=)
|
rs369755163
|
0.00008
|
|
NM_000243.3(MEFV):c.765A>G (p.Ala255=)
|
rs771714168
|
0.00008
|
|
NM_000245.4(MET):c.1669A>G (p.Thr557Ala)
|
rs374733251
|
0.00008
|
|
NM_000246.4(CIITA):c.2384G>A (p.Arg795Gln)
|
rs553503699
|
0.00008
|
|
NM_000249.4(MLH1):c.1558+5G>A
|
rs199935667
|
0.00008
|
|
NM_000249.4(MLH1):c.1742C>T (p.Pro581Leu)
|
rs63751684
|
0.00008
|
|
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln)
|
rs146567853
|
0.00008
|
|
NM_000251.3(MSH2):c.1488A>G (p.Leu496=)
|
rs267607960
|
0.00008
|
|
NM_000251.3(MSH2):c.1662-10C>T
|
rs752606387
|
0.00008
|
|
NM_000251.3(MSH2):c.2500G>A (p.Ala834Thr)
|
rs63750757
|
0.00008
|
|
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr)
|
rs63750466
|
0.00008
|
|
NM_000251.3(MSH2):c.820A>G (p.Ile274Val)
|
rs371944271
|
0.00008
|
|
NM_000251.3(MSH2):c.913G>A (p.Ala305Thr)
|
rs63751454
|
0.00008
|
|
NM_000254.3(MTR):c.3126C>T (p.Asp1042=)
|
rs529430607
|
0.00008
|
|
NM_000257.4(MYH7):c.4293C>T (p.Asp1431=)
|
rs45560242
|
0.00008
|
|
NM_000264.5(PTCH1):c.181G>A (p.Ala61Thr)
|
rs150069331
|
0.00008
|
|
NM_000264.5(PTCH1):c.3955C>T (p.Arg1319Cys)
|
rs375998275
|
0.00008
|
|
NM_000264.5(PTCH1):c.4302C>T (p.Asp1434=)
|
rs201357130
|
0.00008
|
|
NM_000271.5(NPC1):c.2911+10C>T
|
rs370382673
|
0.00008
|
|
NM_000271.5(NPC1):c.3528G>A (p.Thr1176=)
|
rs150602021
|
0.00008
|
|
NM_000277.3(PAH):c.1140G>A (p.Thr380=)
|
rs373763334
|
0.00008
|
|
NM_000282.4(PCCA):c.490A>G (p.Ile164Val)
|
rs539693612
|
0.00008
|
|
NM_000293.3(PHKB):c.932T>C (p.Val311Ala)
|
rs149685822
|
0.00008
|
|
NM_000312.4(PROC):c.678+10G>A
|
rs776905824
|
0.00008
|
|
NM_000335.5(SCN5A):c.3536C>T (p.Ala1179Val)
|
rs41310765
|
0.00008
|
|
NM_000335.5(SCN5A):c.5882C>T (p.Pro1961Leu)
|
rs199473638
|
0.00008
|
|
NM_000346.4(SOX9):c.685+7C>T
|
rs370951695
|
0.00008
|
|
NM_000350.3(ABCA4):c.673G>A (p.Val225Met)
|
rs540124349
|
0.00008
|
|
NM_000352.6(ABCC8):c.3858C>T (p.Tyr1286=)
|
rs377045545
|
0.00008
|
|
NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=)
|
rs562715858
|
0.00008
|
|
NM_000355.4(TCN2):c.424A>G (p.Ile142Val)
|
rs200771616
|
0.00008
|
|
NM_000360.4(TH):c.685A>T (p.Ile229Phe)
|
rs778613708
|
0.00008
|
|
NM_000368.5(TSC1):c.1276G>T (p.Asp426Tyr)
|
rs765695557
|
0.00008
|
|
NM_000368.5(TSC1):c.2965G>T (p.Ala989Ser)
|
rs537585211
|
0.00008
|
|
NM_000377.3(WAS):c.264C>T (p.Tyr88=)
|
rs150520117
|
0.00008
|
|
NM_000377.3(WAS):c.285G>A (p.Leu95=)
|
rs781799471
|
0.00008
|
|
NM_000384.3(APOB):c.11966G>A (p.Arg3989His)
|
rs148197354
|
0.00008
|
|
NM_000384.3(APOB):c.13175G>A (p.Ser4392Asn)
|
rs777718986
|
0.00008
|
|
NM_000384.3(APOB):c.13288T>A (p.Ser4430Thr)
|
rs72654426
|
0.00008
|
|
NM_000384.3(APOB):c.4929G>A (p.Ala1643=)
|
rs200623857
|
0.00008
|
|
NM_000388.4(CASR):c.1188A>G (p.Thr396=)
|
rs200312817
|
0.00008
|
|
NM_000400.4(ERCC2):c.428G>A (p.Arg143Gln)
|
rs150000483
|
0.00008
|
|
NM_000417.3(IL2RA):c.584-11C>T
|
rs750468923
|
0.00008
|
|
NM_000417.3(IL2RA):c.693G>A (p.Glu231=)
|
rs139266750
|
0.00008
|
|
NM_000419.5(ITGA2B):c.671-15T>C
|
rs200877591
|
0.00008
|
|
NM_000426.4(LAMA2):c.4075A>G (p.Met1359Val)
|
rs749372185
|
0.00008
|
|
NM_000426.4(LAMA2):c.6345C>T (p.Pro2115=)
|
rs200364660
|
0.00008
|
|
NM_000426.4(LAMA2):c.6563G>A (p.Ser2188Asn)
|
rs372592018
|
0.00008
|
|
NM_000435.3(NOTCH3):c.3785G>T (p.Arg1262Leu)
|
rs143684274
|
0.00008
|
|
NM_000443.4(ABCB4):c.3477G>A (p.Thr1159=)
|
rs368458295
|
0.00008
|
|
NM_000455.5(STK11):c.920+5G>A
|
rs587780013
|
0.00008
|
|
NM_000465.4(BARD1):c.1339C>G (p.Leu447Val)
|
rs376727038
|
0.00008
|
|
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser)
|
rs587781976
|
0.00008
|
|
NM_000466.3(PEX1):c.3637-14T>C
|
rs745612436
|
0.00008
|
|
NM_000489.6(ATRX):c.1868A>G (p.Lys623Arg)
|
rs145678415
|
0.00008
|
|
NM_000489.6(ATRX):c.7435A>G (p.Met2479Val)
|
rs200478641
|
0.00008
|
|
NM_000501.4(ELN):c.1358-198G>A
|
rs192461213
|
0.00008
|
|
NM_000520.6(HEXA):c.855C>T (p.Gly285=)
|
rs768518776
|
0.00008
|
|
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala)
|
rs138315511
|
0.00008
|
|
NM_000527.5(LDLR):c.1503G>A (p.Ala501=)
|
rs368889457
|
0.00008
|
|
NM_000527.5(LDLR):c.1580T>C (p.Val527Ala)
|
rs730882107
|
0.00008
|
|
NM_000527.5(LDLR):c.2358C>T (p.Ser786=)
|
rs183255090
|
0.00008
|
|
NM_000528.4(MAN2B1):c.2020C>T (p.Arg674Cys)
|
rs770791374
|
0.00008
|
|
NM_000528.4(MAN2B1):c.274A>G (p.Ile92Val)
|
rs751849414
|
0.00008
|
|
NM_000528.4(MAN2B1):c.2886C>T (p.Arg962=)
|
rs142797984
|
0.00008
|
|
NM_000532.5(PCCB):c.561C>T (p.Ser187=)
|
rs145057852
|
0.00008
|
|
NM_000535.7(PMS2):c.1399G>A (p.Val467Ile)
|
rs373611083
|
0.00008
|
|
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)
|
rs199739859
|
0.00008
|
|
NM_000535.7(PMS2):c.2127C>T (p.Phe709=)
|
rs199943748
|
0.00008
|
|
NM_000535.7(PMS2):c.735G>T (p.Leu245=)
|
rs373366661
|
0.00008
|
|
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp)
|
rs536304635
|
0.00008
|
|
NM_000540.3(RYR1):c.11412C>T (p.Leu3804=)
|
rs376851030
|
0.00008
|
|
NM_000540.3(RYR1):c.11518G>A (p.Val3840Ile)
|
rs140616359
|
0.00008
|
|
NM_000540.3(RYR1):c.13190C>G (p.Ala4397Gly)
|
rs1057520588
|
0.00008
|
|
NM_000540.3(RYR1):c.2488C>T (p.Arg830Trp)
|
rs142548565
|
0.00008
|
|
NM_000540.3(RYR1):c.2712G>A (p.Pro904=)
|
rs139339574
|
0.00008
|
|
NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys)
|
rs754476250
|
0.00008
|
|
NM_000540.3(RYR1):c.5289G>A (p.Pro1763=)
|
rs376482004
|
0.00008
|
|
NM_000540.3(RYR1):c.8310+10A>G
|
rs372730488
|
0.00008
|
|
NM_000540.3(RYR1):c.8715G>C (p.Leu2905=)
|
rs368684717
|
0.00008
|
|
NM_000548.5(TSC2):c.3779C>T (p.Thr1260Met)
|
rs776738338
|
0.00008
|
|
NM_000548.5(TSC2):c.4569+12C>T
|
rs45517350
|
0.00008
|
|
NM_000551.4(VHL):c.5C>T (p.Pro2Leu)
|
rs111246617
|
0.00008
|
|
NM_000552.5(VWF):c.8273C>T (p.Ala2758Val)
|
rs144542595
|
0.00008
|
|
NM_000558.5(HBA1):c.250C>T (p.Leu84=)
|
rs754145030
|
0.00008
|
|
NM_000642.3(AGL):c.3290G>A (p.Arg1097His)
|
rs185947256
|
0.00008
|
|
NM_000719.7(CACNA1C):c.5529T>C (p.His1843=)
|
rs371831239
|
0.00008
|
|
NM_000751.3(CHRND):c.411C>T (p.Gly137=)
|
rs373578965
|
0.00008
|
|
NM_000787.4(DBH):c.1599G>A (p.Ala533=)
|
rs377563744
|
0.00008
|
|
NM_000787.4(DBH):c.624C>T (p.Pro208=)
|
rs75942058
|
0.00008
|
|
NM_000834.5(GRIN2B):c.140A>G (p.Glu47Gly)
|
rs199526748
|
0.00008
|
|
NM_000843.4(GRM6):c.588C>T (p.Pro196=)
|
rs756171835
|
0.00008
|
|
NM_001005242.3(PKP2):c.1379-2038T>C
|
rs781397552
|
0.00008
|
|
NM_001005242.3(PKP2):c.918C>T (p.Pro306=)
|
rs368656084
|
0.00008
|
|
NM_001005273.3(CHD3):c.5798C>T (p.Ala1933Val)
|
rs140448992
|
0.00008
|
|
NM_001008537.3(NEXMIF):c.2672A>G (p.Asn891Ser)
|
rs186535459
|
0.00008
|
|
NM_001018113.3(FANCB):c.127T>A (p.Leu43Ile)
|
rs771007866
|
0.00008
|
|
NM_001018115.3(FANCD2):c.672C>T (p.His224=)
|
rs371928644
|
0.00008
|
|
NM_001025616.3(ARHGAP24):c.1916G>A (p.Ser639Asn)
|
rs200213078
|
0.00008
|
|
NM_001035.3(RYR2):c.13718G>A (p.Arg4573His)
|
rs371157286
|
0.00008
|
|
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile)
|
rs185715460
|
0.00008
|
|
NM_001035.3(RYR2):c.4735G>A (p.Val1579Met)
|
rs763389778
|
0.00008
|
|
NM_001035.3(RYR2):c.684C>T (p.Leu228=)
|
rs72549417
|
0.00008
|
|
NM_001035.3(RYR2):c.7158C>T (p.Asn2386=)
|
rs376057173
|
0.00008
|
|
NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp)
|
rs372601642
|
0.00008
|
|
NM_001035.3(RYR2):c.9820A>G (p.Asn3274Asp)
|
rs751551400
|
0.00008
|
|
NM_001040142.2(SCN2A):c.5574A>G (p.Leu1858=)
|
rs767592553
|
0.00008
|
|
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe)
|
rs201824349
|
0.00008
|
|
NM_001048166.1(STIL):c.2259C>G (p.Ser753=)
|
rs774035449
|
0.00008
|
|
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His)
|
rs144111588
|
0.00008
|
|
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met)
|
rs147718169
|
0.00008
|
|
NM_001077653.2(TBX20):c.1001G>A (p.Arg334Gln)
|
rs767429245
|
0.00008
|
|
NM_001080517.3(SETD5):c.2462G>A (p.Cys821Tyr)
|
rs376767548
|
0.00008
|
|
NM_001082486.2(ACD):c.493+7T>C
|
rs199626332
|
0.00008
|
|
NM_001083961.2(WDR62):c.4122C>T (p.Gly1374=)
|
rs773948810
|
0.00008
|
|
NM_001089.3(ABCA3):c.446C>T (p.Ala149Val)
|
rs145483014
|
0.00008
|
|
NM_001099922.3(ALG13):c.621A>T (p.Gly207=)
|
rs371428241
|
0.00008
|
|
NM_001105206.3(LAMA4):c.4405G>A (p.Ala1469Thr)
|
rs727504595
|
0.00008
|
|
NM_001110556.2(FLNA):c.5911A>T (p.Ile1971Phe)
|
rs190712778
|
0.00008
|
|
NM_001113491.2(SEPTIN9):c.385C>T (p.Arg129Trp)
|
rs201442609
|
0.00008
|
|
NM_001114753.3(ENG):c.1098C>T (p.Asp366=)
|
rs201497772
|
0.00008
|
|
NM_001114753.3(ENG):c.1852+21C>G
|
rs147188969
|
0.00008
|
|
NM_001126108.2(SLC12A3):c.1710G>A (p.Ala570=)
|
rs387907471
|
0.00008
|
|
NM_001127198.5(TMC6):c.633+8C>T
|
rs369450669
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.3634G>T (p.Asp1212Tyr)
|
rs201269793
|
0.00008
|
|
NM_001127671.2(LIFR):c.2937G>A (p.Ser979=)
|
rs201711670
|
0.00008
|
|
NM_001128840.3(CACNA1D):c.1722G>A (p.Met574Ile)
|
rs373740752
|
0.00008
|
|
NM_001130438.3(SPTAN1):c.6235G>A (p.Ala2079Thr)
|
rs377253398
|
0.00008
|
|
NM_001130823.3(DNMT1):c.2937C>T (p.Pro979=)
|
rs150359172
|
0.00008
|
|
NM_001130823.3(DNMT1):c.919A>G (p.Lys307Glu)
|
rs148831705
|
0.00008
|
|
NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met)
|
rs775539496
|
0.00008
|
|
NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln)
|
rs375798246
|
0.00008
|
|
NM_001134363.3(RBM20):c.3549C>T (p.Ser1183=)
|
rs575854668
|
0.00008
|
|
NM_001134363.3(RBM20):c.3616G>A (p.Glu1206Lys)
|
rs757389650
|
0.00008
|
|
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=)
|
rs187423999
|
0.00008
|
|
NM_001134407.3(GRIN2A):c.4330G>A (p.Val1444Ile)
|
rs150574045
|
0.00008
|
|
NM_001134407.3(GRIN2A):c.4353A>T (p.Arg1451Ser)
|
rs143693526
|
0.00008
|
|
NM_001136271.3(NKX2-6):c.276G>A (p.Gln92=)
|
rs768775204
|
0.00008
|
|
NM_001142800.2(EYS):c.1107C>T (p.Ser369=)
|
rs755023434
|
0.00008
|
|
NM_001142800.2(EYS):c.4392G>T (p.Gly1464=)
|
rs745673114
|
0.00008
|
|
NM_001145809.2(MYH14):c.3778G>A (p.Gly1260Ser)
|
rs200272339
|
0.00008
|
|
NM_001146079.2(CLDN14):c.321C>T (p.Cys107=)
|
rs764548516
|
0.00008
|
|
NM_001164507.2(NEB):c.21396C>T (p.Thr7132=)
|
rs759637718
|
0.00008
|
|
NM_001164508.2(NEB):c.17203G>A (p.Ala5735Thr)
|
rs202111641
|
0.00008
|
|
NM_001164508.2(NEB):c.19993C>T (p.Pro6665Ser)
|
rs751724804
|
0.00008
|
|
NM_001164508.2(NEB):c.23840T>G (p.Leu7947Trp)
|
rs200559481
|
0.00008
|
|
NM_001164508.2(NEB):c.3416C>T (p.Thr1139Met)
|
rs181244403
|
0.00008
|
|
NM_001164508.2(NEB):c.355A>G (p.Thr119Ala)
|
rs182207224
|
0.00008
|
|
NM_001164508.2(NEB):c.4431T>C (p.Asp1477=)
|
rs140558263
|
0.00008
|
|
NM_001164508.2(NEB):c.8039G>A (p.Arg2680Gln)
|
rs201746137
|
0.00008
|
|
NM_001164508.2(NEB):c.9619-9C>T
|
rs778009768
|
0.00008
|
|
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp)
|
rs121917973
|
0.00008
|
|
NM_001165963.4(SCN1A):c.4887C>T (p.Phe1629=)
|
rs587780445
|
0.00008
|
|
NM_001170629.2(CHD8):c.5662T>C (p.Tyr1888His)
|
rs373607095
|
0.00008
|
|
NM_001193315.2(VIPAS39):c.1254T>C (p.Asn418=)
|
rs188105111
|
0.00008
|
|
NM_001199107.2(TBC1D24):c.1425C>T (p.Pro475=)
|
rs370869383
|
0.00008
|
|
NM_001202.6(BMP4):c.898C>T (p.Arg300Trp)
|
rs182373336
|
0.00008
|
|
NM_001203.3(BMPR1B):c.892G>A (p.Ala298Thr)
|
rs373000965
|
0.00008
|
|
NM_001232.4(CASQ2):c.1015-3C>T
|
rs375320117
|
0.00008
|
|
NM_001242957.3(MAK):c.492-4A>G
|
rs540144059
|
0.00008
|
|
NM_001267550.2(TTN):c.104640G>A (p.Glu34880=)
|
rs373134178
|
0.00008
|
|
NM_001267550.2(TTN):c.105416C>T (p.Thr35139Ile)
|
rs200782068
|
0.00008
|
|
NM_001267550.2(TTN):c.105737C>G (p.Ala35246Gly)
|
rs370476812
|
0.00008
|
|
NM_001267550.2(TTN):c.105757G>A (p.Val35253Met)
|
rs373655492
|
0.00008
|
|
NM_001267550.2(TTN):c.106511G>C (p.Ser35504Thr)
|
rs575070622
|
0.00008
|
|
NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu)
|
rs772957495
|
0.00008
|
|
NM_001267550.2(TTN):c.107384T>C (p.Val35795Ala)
|
rs549598246
|
0.00008
|
|
NM_001267550.2(TTN):c.12181G>A (p.Ala4061Thr)
|
rs397517829
|
0.00008
|
|
NM_001267550.2(TTN):c.13520T>C (p.Met4507Thr)
|
rs191968963
|
0.00008
|
|
NM_001267550.2(TTN):c.20465A>G (p.Asn6822Ser)
|
rs371518764
|
0.00008
|
|
NM_001267550.2(TTN):c.21276C>T (p.Thr7092=)
|
rs372264428
|
0.00008
|
|
NM_001267550.2(TTN):c.22667G>A (p.Arg7556His)
|
rs374344734
|
0.00008
|
|
NM_001267550.2(TTN):c.25637A>G (p.Gln8546Arg)
|
rs548471822
|
0.00008
|
|
NM_001267550.2(TTN):c.2760C>T (p.His920=)
|
rs138788406
|
0.00008
|
|
NM_001267550.2(TTN):c.2767G>A (p.Glu923Lys)
|
rs369195237
|
0.00008
|
|
NM_001267550.2(TTN):c.2776-14T>C
|
rs201611946
|
0.00008
|
|
NM_001267550.2(TTN):c.29960T>A (p.Ile9987Asn)
|
rs376644553
|
0.00008
|
|
NM_001267550.2(TTN):c.31071C>T (p.His10357=)
|
rs368973334
|
0.00008
|
|
NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr)
|
rs532102837
|
0.00008
|
|
NM_001267550.2(TTN):c.3713C>A (p.Thr1238Asn)
|
rs147020824
|
0.00008
|
|
NM_001267550.2(TTN):c.3813T>C (p.Leu1271=)
|
rs773274762
|
0.00008
|
|
NM_001267550.2(TTN):c.39709+9G>C
|
rs765647346
|
0.00008
|
|
NM_001267550.2(TTN):c.42839A>G (p.Asp14280Gly)
|
rs181902304
|
0.00008
|
|
NM_001267550.2(TTN):c.47860G>A (p.Ala15954Thr)
|
rs377037421
|
0.00008
|
|
NM_001267550.2(TTN):c.48462G>A (p.Thr16154=)
|
rs202141158
|
0.00008
|
|
NM_001267550.2(TTN):c.48556C>T (p.Arg16186Cys)
|
rs377563403
|
0.00008
|
|
NM_001267550.2(TTN):c.51247G>T (p.Val17083Phe)
|
rs746817480
|
0.00008
|
|
NM_001267550.2(TTN):c.54631C>A (p.Pro18211Thr)
|
rs727504192
|
0.00008
|
|
NM_001267550.2(TTN):c.54855G>A (p.Thr18285=)
|
rs200410212
|
0.00008
|
|
NM_001267550.2(TTN):c.55396G>A (p.Gly18466Arg)
|
rs772677752
|
0.00008
|
|
NM_001267550.2(TTN):c.60976G>A (p.Ala20326Thr)
|
rs370995867
|
0.00008
|
|
NM_001267550.2(TTN):c.62723G>A (p.Arg20908Gln)
|
rs377203669
|
0.00008
|
|
NM_001267550.2(TTN):c.63137T>C (p.Ile21046Thr)
|
rs368868562
|
0.00008
|
|
NM_001267550.2(TTN):c.65515G>A (p.Ala21839Thr)
|
rs56378177
|
0.00008
|
|
NM_001267550.2(TTN):c.68097G>C (p.Gln22699His)
|
rs727504520
|
0.00008
|
|
NM_001267550.2(TTN):c.70163G>A (p.Arg23388Gln)
|
rs55853138
|
0.00008
|
|
NM_001267550.2(TTN):c.76610G>A (p.Arg25537His)
|
rs561977468
|
0.00008
|
|
NM_001267550.2(TTN):c.8184C>T (p.Val2728=)
|
rs753356474
|
0.00008
|
|
NM_001267550.2(TTN):c.83080C>T (p.Arg27694Cys)
|
rs192360370
|
0.00008
|
|
NM_001267550.2(TTN):c.85472G>A (p.Arg28491His)
|
rs373129706
|
0.00008
|
|
NM_001267550.2(TTN):c.88246G>T (p.Val29416Phe)
|
rs755325663
|
0.00008
|
|
NM_001267550.2(TTN):c.90727A>T (p.Ile30243Phe)
|
rs925184690
|
0.00008
|
|
NM_001267550.2(TTN):c.92710A>G (p.Lys30904Glu)
|
rs370265204
|
0.00008
|
|
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile)
|
rs200476500
|
0.00008
|
|
NM_001267550.2(TTN):c.95462A>G (p.Lys31821Arg)
|
rs372388579
|
0.00008
|
|
NM_001267550.2(TTN):c.96172C>T (p.Arg32058Trp)
|
rs201463708
|
0.00008
|
|
NM_001267550.2(TTN):c.98431C>T (p.Arg32811Cys)
|
rs371807358
|
0.00008
|
|
NM_001267550.2(TTN):c.99582G>A (p.Pro33194=)
|
rs777730098
|
0.00008
|
|
NM_001267550.2(TTN):c.99668G>A (p.Arg33223His)
|
rs369081242
|
0.00008
|
|
NM_001277115.2(DNAH11):c.10867A>G (p.Ile3623Val)
|
rs370443558
|
0.00008
|
|
NM_001277115.2(DNAH11):c.11081A>T (p.Asn3694Ile)
|
rs528354205
|
0.00008
|
|
NM_001277115.2(DNAH11):c.3356G>A (p.Ser1119Asn)
|
rs754921505
|
0.00008
|
|
NM_001277115.2(DNAH11):c.4012-8G>A
|
rs374349753
|
0.00008
|
|
NM_001282531.3(ADNP):c.1747G>T (p.Ala583Ser)
|
rs141535413
|
0.00008
|
|
NM_001282531.3(ADNP):c.2617G>T (p.Asp873Tyr)
|
rs147299402
|
0.00008
|
|
NM_001283009.2(RTEL1):c.2232C>T (p.Asp744=)
|
rs146666432
|
0.00008
|
|
NM_001287.6(CLCN7):c.1155C>T (p.Gly385=)
|
rs771365308
|
0.00008
|
|
NM_001292063.2(OTOG):c.450A>G (p.Thr150=)
|
rs779238030
|
0.00008
|
|
NM_001317778.2(SFTPC):c.201+3G>A
|
rs371998882
|
0.00008
|
|
NM_001330078.2(NRXN1):c.3364+9C>T
|
rs200767650
|
0.00008
|
|
NM_001330078.2(NRXN1):c.498G>A (p.Ala166=)
|
rs201212909
|
0.00008
|
|
NM_001349338.3(FOXP1):c.1135G>A (p.Ala379Thr)
|
rs149759021
|
0.00008
|
|
NM_001354604.2(MITF):c.537C>T (p.Asn179=)
|
rs150591206
|
0.00008
|
|
NM_001355436.2(SPTB):c.3624G>A (p.Arg1208=)
|
rs200385949
|
0.00008
|
|
NM_001355436.2(SPTB):c.3780C>T (p.Asn1260=)
|
rs191583247
|
0.00008
|
|
NM_001363711.2(DUOX2):c.1189C>A (p.Gln397Lys)
|
rs200989933
|
0.00008
|
|
NM_001365304.2(LOC112694756):c.*622-5C>T
|
rs752764982
|
0.00008
|
|
NM_001365536.1(SCN9A):c.213G>A (p.Val71=)
|
rs200240989
|
0.00008
|
|
NM_001365999.1(SZT2):c.4188C>T (p.Ser1396=)
|
rs138401303
|
0.00008
|
|
NM_001365999.1(SZT2):c.5377G>A (p.Glu1793Lys)
|
rs143185010
|
0.00008
|
|
NM_001367624.2(ZNF469):c.11164G>A (p.Ala3722Thr)
|
rs549874193
|
0.00008
|
|
NM_001367624.2(ZNF469):c.26C>T (p.Ala9Val)
|
rs569870332
|
0.00008
|
|
NM_001367624.2(ZNF469):c.3506C>T (p.Pro1169Leu)
|
rs769853271
|
0.00008
|
|
NM_001367624.2(ZNF469):c.4226C>T (p.Pro1409Leu)
|
rs776065579
|
0.00008
|
|
NM_001367624.2(ZNF469):c.959C>T (p.Thr320Met)
|
rs765028361
|
0.00008
|
|
NM_001367721.1(CASK):c.1718C>T (p.Thr573Ile)
|
rs141840001
|
0.00008
|
|
NM_001368894.2(PAX6):c.958+4A>T
|
rs765926181
|
0.00008
|
|
NM_001369.3(DNAH5):c.12105G>A (p.Thr4035=)
|
rs199735129
|
0.00008
|
|
NM_001369.3(DNAH5):c.2471T>C (p.Ile824Thr)
|
rs147108941
|
0.00008
|
|
NM_001369.3(DNAH5):c.3428G>A (p.Arg1143His)
|
rs150739124
|
0.00008
|
|
NM_001369.3(DNAH5):c.4133T>C (p.Ile1378Thr)
|
rs536502106
|
0.00008
|
|
NM_001369.3(DNAH5):c.7888-4A>G
|
rs775268409
|
0.00008
|
|
NM_001369.3(DNAH5):c.946C>T (p.Leu316Phe)
|
rs201706790
|
0.00008
|
|
NM_001370259.2(MEN1):c.1185+12G>A
|
rs373609932
|
0.00008
|
|
NM_001374828.1(ARID1B):c.1337C>T (p.Ala446Val)
|
rs748273011
|
0.00008
|
|
NM_001375808.2(LPIN2):c.1395C>T (p.Asp465=)
|
rs143562359
|
0.00008
|
|
NM_001376.5(DYNC1H1):c.13157A>G (p.Asn4386Ser)
|
rs201575292
|
0.00008
|
|
NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=)
|
rs202004938
|
0.00008
|
|
NM_001376.5(DYNC1H1):c.9531G>A (p.Leu3177=)
|
rs531438720
|
0.00008
|
|
NM_001376256.1(CRYM):c.474G>A (p.Gln158=)
|
rs371633413
|
0.00008
|
|
NM_001386298.1(CIC):c.133G>A (p.Asp45Asn)
|
rs1044899707
|
0.00008
|
|
NM_001395413.1(POR):c.1944T>G (p.Ala648=)
|
rs370865328
|
0.00008
|
|
NM_001429.4(EP300):c.2671A>C (p.Thr891Pro)
|
rs200499648
|
0.00008
|
|
NM_001457.4(FLNB):c.5348C>T (p.Thr1783Met)
|
rs189785975
|
0.00008
|
|
NM_001457.4(FLNB):c.6210C>T (p.Ile2070=)
|
rs538937637
|
0.00008
|
|
NM_001457.4(FLNB):c.6666C>T (p.Gly2222=)
|
rs144628013
|
0.00008
|
|
NM_001458.5(FLNC):c.2040C>T (p.Thr680=)
|
rs368121231
|
0.00008
|
|
NM_001458.5(FLNC):c.3740C>T (p.Ala1247Val)
|
rs775496136
|
0.00008
|
|
NM_001458.5(FLNC):c.4488T>C (p.Asn1496=)
|
rs377258966
|
0.00008
|
|
NM_001458.5(FLNC):c.4651G>A (p.Ala1551Thr)
|
rs565918031
|
0.00008
|
|
NM_001458.5(FLNC):c.5216C>T (p.Pro1739Leu)
|
rs745650222
|
0.00008
|
|
NM_001458.5(FLNC):c.6817G>A (p.Ala2273Thr)
|
rs372251350
|
0.00008
|
|
NM_001711.6(BGN):c.515G>A (p.Arg172His)
|
rs782239175
|
0.00008
|
|
NM_001793.6(CDH3):c.2475C>T (p.Gly825=)
|
rs543214840
|
0.00008
|
|
NM_001844.5(COL2A1):c.2307C>T (p.Asp769=)
|
rs145023922
|
0.00008
|
|
NM_001844.5(COL2A1):c.3952G>A (p.Glu1318Lys)
|
rs781229123
|
0.00008
|
|
NM_001844.5(COL2A1):c.410G>A (p.Arg137His)
|
rs201675352
|
0.00008
|
|
NM_001845.6(COL4A1):c.2869+6T>C
|
rs557198622
|
0.00008
|
|
NM_001848.3(COL6A1):c.2464+9C>T
|
rs368651226
|
0.00008
|
|
NM_001849.4(COL6A2):c.2301C>T (p.His767=)
|
rs138371054
|
0.00008
|
|
NM_001852.4(COL9A2):c.919G>A (p.Gly307Ser)
|
rs184896618
|
0.00008
|
|
NM_001853.4(COL9A3):c.332C>T (p.Pro111Leu)
|
rs368744467
|
0.00008
|
|
NM_001853.4(COL9A3):c.931G>A (p.Val311Met)
|
rs546308741
|
0.00008
|
|
NM_001854.4(COL11A1):c.3967C>A (p.Pro1323Thr)
|
rs377044024
|
0.00008
|
|
NM_001875.5(CPS1):c.528+9A>G
|
rs369476447
|
0.00008
|
|
NM_001903.5(CTNNA1):c.2559C>T (p.Asn853=)
|
rs374540412
|
0.00008
|
|
NM_001927.4(DES):c.216C>A (p.Ser72Arg)
|
rs375719734
|
0.00008
|
|
NM_001953.5(TYMP):c.1137G>A (p.Glu379=)
|
rs764142194
|
0.00008
|
|
NM_001999.4(FBN2):c.7212C>T (p.Leu2404=)
|
rs368506842
|
0.00008
|
|
NM_002047.4(GARS1):c.1716G>A (p.Pro572=)
|
rs370608239
|
0.00008
|
|
NM_002156.5(HSPD1):c.175-7C>T
|
rs374694909
|
0.00008
|
|
NM_002230.4(JUP):c.475G>T (p.Val159Leu)
|
rs782702266
|
0.00008
|
|
NM_002230.4(JUP):c.809T>A (p.Leu270Gln)
|
rs794729040
|
0.00008
|
|
NM_002234.4(KCNA5):c.544G>A (p.Gly182Arg)
|
rs755408841
|
0.00008
|
|
NM_002292.4(LAMB2):c.2489-7C>T
|
rs374958213
|
0.00008
|
|
NM_002427.4(MMP13):c.443T>A (p.Val148Glu)
|
rs374419716
|
0.00008
|
|
NM_002439.5(MSH3):c.2229A>G (p.Gln743=)
|
rs142338243
|
0.00008
|
|
NM_002470.4(MYH3):c.4987C>T (p.Arg1663Trp)
|
rs777159320
|
0.00008
|
|
NM_002471.4(MYH6):c.1154C>T (p.Ser385Leu)
|
rs778319108
|
0.00008
|
|
NM_002471.4(MYH6):c.2591C>T (p.Thr864Met)
|
rs200153625
|
0.00008
|
|
NM_002471.4(MYH6):c.3867G>T (p.Leu1289Phe)
|
rs138127105
|
0.00008
|
|
NM_002471.4(MYH6):c.4651-4C>A
|
rs766134513
|
0.00008
|
|
NM_002473.6(MYH9):c.5338C>T (p.Arg1780Trp)
|
rs527571090
|
0.00008
|
|
NM_002474.3(MYH11):c.3293+5C>T
|
rs766421052
|
0.00008
|
|
NM_002474.3(MYH11):c.5732C>T (p.Thr1911Met)
|
rs748516947
|
0.00008
|
|
NM_002528.7(NTHL1):c.652A>G (p.Met218Val)
|
rs367577861
|
0.00008
|
|
NM_002528.7(NTHL1):c.769G>A (p.Ala257Thr)
|
rs148474733
|
0.00008
|
|
NM_002529.4(NTRK1):c.509T>C (p.Val170Ala)
|
rs201503610
|
0.00008
|
|
NM_002529.4(NTRK1):c.824A>C (p.Glu275Ala)
|
rs138533001
|
0.00008
|
|
NM_002546.4(TNFRSF11B):c.69G>A (p.Thr23=)
|
rs146450643
|
0.00008
|
|
NM_002547.3(OPHN1):c.1830C>T (p.Ser610=)
|
rs368803937
|
0.00008
|
|
NM_002691.4(POLD1):c.2317G>A (p.Ala773Thr)
|
rs753865441
|
0.00008
|
|
NM_002691.4(POLD1):c.2718-4G>A
|
rs755348897
|
0.00008
|
|
NM_002693.3(POLG):c.1977C>T (p.His659=)
|
rs62640030
|
0.00008
|
|
NM_002778.4(PSAP):c.1456C>T (p.His486Tyr)
|
rs749660716
|
0.00008
|
|
NM_002778.4(PSAP):c.623T>G (p.Ile208Ser)
|
rs200319381
|
0.00008
|
|
NM_002834.5(PTPN11):c.1740T>C (p.Tyr580=)
|
rs139188627
|
0.00008
|
|
NM_002878.4(RAD51D):c.355T>C (p.Cys119Arg)
|
rs201313861
|
0.00008
|
|
NM_002907.4(RECQL):c.386G>A (p.Cys129Tyr)
|
rs187203579
|
0.00008
|
|
NM_002968.3(SALL1):c.1738A>G (p.Ile580Val)
|
rs761575154
|
0.00008
|
|
NM_003036.4(SKI):c.1109T>C (p.Val370Ala)
|
rs138088528
|
0.00008
|
|
NM_003070.5(SMARCA2):c.175A>T (p.Thr59Ser)
|
rs138129490
|
0.00008
|
|
NM_003070.5(SMARCA2):c.915C>G (p.Pro305=)
|
rs981565985
|
0.00008
|
|
NM_003119.4(SPG7):c.2083C>G (p.Leu695Val)
|
rs754203248
|
0.00008
|
|
NM_003239.5(TGFB3):c.-31C>T
|
rs375120782
|
0.00008
|
|
NM_003331.5(TYK2):c.372T>C (p.Arg124=)
|
rs371832787
|
0.00008
|
|
NM_003331.5(TYK2):c.489C>T (p.Asp163=)
|
rs748475805
|
0.00008
|
|
NM_003331.5(TYK2):c.783C>G (p.Ala261=)
|
rs371939297
|
0.00008
|
|
NM_003482.4(KMT2D):c.11849A>G (p.Gln3950Arg)
|
rs751367935
|
0.00008
|
|
NM_003482.4(KMT2D):c.9474G>C (p.Gln3158His)
|
rs770522446
|
0.00008
|
|
NM_003560.4(PLA2G6):c.895-11G>A
|
rs371094406
|
0.00008
|
|
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala)
|
rs797045846
|
0.00008
|
|
NM_003737.4(DCHS1):c.2382G>C (p.Gln794His)
|
rs369091875
|
0.00008
|
|
NM_003742.4(ABCB11):c.2565A>G (p.Gly855=)
|
rs1014304470
|
0.00008
|
|
NM_003742.4(ABCB11):c.279C>T (p.Tyr93=)
|
rs375137002
|
0.00008
|
|
NM_003849.4(SUCLG1):c.590-6G>A
|
rs200107730
|
0.00008
|
|
NM_003865.3(HESX1):c.541A>G (p.Thr181Ala)
|
rs28936704
|
0.00008
|
|
NM_003924.4(PHOX2B):c.729A>G (p.Ala243=)
|
rs751829128
|
0.00008
|
|
NM_003977.4(AIP):c.561C>T (p.Asn187=)
|
rs142037029
|
0.00008
|
|
NM_003977.4(AIP):c.724C>G (p.Leu242Val)
|
rs772782309
|
0.00008
|
|
NM_003982.4(SLC7A7):c.123C>T (p.Asn41=)
|
rs367673752
|
0.00008
|
|
NM_004006.3(DMD):c.5489G>T (p.Arg1830Ile)
|
rs369055628
|
0.00008
|
|
NM_004006.3(DMD):c.5548A>G (p.Lys1850Glu)
|
rs141261536
|
0.00008
|
|
NM_004006.3(DMD):c.8829G>A (p.Thr2943=)
|
rs150766816
|
0.00008
|
|
NM_004183.4(BEST1):c.1054G>A (p.Ala352Thr)
|
rs147409760
|
0.00008
|
|
NM_004281.4(BAG3):c.211C>T (p.Arg71Trp)
|
rs387906874
|
0.00008
|
|
NM_004304.5(ALK):c.1550A>G (p.His517Arg)
|
rs367674546
|
0.00008
|
|
NM_004304.5(ALK):c.2275G>A (p.Val759Met)
|
rs199691702
|
0.00008
|
|
NM_004304.5(ALK):c.3362G>A (p.Gly1121Asp)
|
rs55760835
|
0.00008
|
|
NM_004304.5(ALK):c.875G>A (p.Arg292His)
|
rs149145987
|
0.00008
|
|
NM_004360.5(CDH1):c.164T>G (p.Val55Gly)
|
rs587778174
|
0.00008
|
|
NM_004369.4(COL6A3):c.1292C>T (p.Pro431Leu)
|
rs144746928
|
0.00008
|
|
NM_004369.4(COL6A3):c.4849G>A (p.Ala1617Thr)
|
rs200433282
|
0.00008
|
|
NM_004380.3(CREBBP):c.164A>G (p.Asn55Ser)
|
rs587783466
|
0.00008
|
|
NM_004415.4(DSP):c.2125C>T (p.Leu709Phe)
|
rs1431507005
|
0.00008
|
|
NM_004431.5(EPHA2):c.1567G>A (p.Glu523Lys)
|
rs369180720
|
0.00008
|
|
NM_004444.5(EPHB4):c.935G>A (p.Arg312His)
|
rs765819602
|
0.00008
|
|
NM_004519.4(KCNQ3):c.1935A>G (p.Gln645=)
|
rs587781011
|
0.00008
|
|
NM_004526.4(MCM2):c.2570C>T (p.Thr857Ile)
|
rs140905579
|
0.00008
|
|
NM_004560.4(ROR2):c.1565G>A (p.Arg522Gln)
|
rs201986784
|
0.00008
|
|
NM_004655.4(AXIN2):c.2239C>T (p.His747Tyr)
|
rs143571197
|
0.00008
|
|
NM_004655.4(AXIN2):c.475G>T (p.Asp159Tyr)
|
rs753036084
|
0.00008
|
|
NM_004820.5(CYP7B1):c.645T>C (p.Asp215=)
|
rs535511484
|
0.00008
|
|
NM_004984.4(KIF5A):c.2672G>A (p.Arg891His)
|
rs767911747
|
0.00008
|
|
NM_005027.4(PIK3R2):c.1290+4C>T
|
rs376614345
|
0.00008
|
|
NM_005045.4(RELN):c.2637C>T (p.Val879=)
|
rs544717229
|
0.00008
|
|
NM_005045.4(RELN):c.8667+9_8667+13del
|
rs755797350
|
0.00008
|
|
NM_005045.4(RELN):c.9708C>T (p.Ser3236=)
|
rs200370282
|
0.00008
|
|
NM_005051.3(QARS1):c.395G>C (p.Arg132Thr)
|
rs530494890
|
0.00008
|
|
NM_005198.5(CHKB):c.708C>T (p.Val236=)
|
rs141934594
|
0.00008
|
|
NM_005263.5(GFI1):c.1250C>T (p.Thr417Met)
|
rs777241871
|
0.00008
|
|
NM_005327.7(HADH):c.240G>A (p.Lys80=)
|
rs748623569
|
0.00008
|
|
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His)
|
rs373327413
|
0.00008
|
|
NM_005359.6(SMAD4):c.852A>G (p.Gln284=)
|
rs144378484
|
0.00008
|
|
NM_005422.4(TECTA):c.3511G>A (p.Val1171Met)
|
rs186780639
|
0.00008
|
|
NM_005476.7(GNE):c.1412-5C>T
|
rs369078814
|
0.00008
|
|
NM_005476.7(GNE):c.165-9C>T
|
rs760509369
|
0.00008
|
|
NM_005529.7(HSPG2):c.1507+9G>A
|
rs371371189
|
0.00008
|
|
NM_005529.7(HSPG2):c.4413C>T (p.Pro1471=)
|
rs376929779
|
0.00008
|
|
NM_005609.4(PYGM):c.1110G>A (p.Val370=)
|
rs372719040
|
0.00008
|
|
NM_005629.4(SLC6A8):c.1810T>A (p.Leu604Met)
|
rs1301772452
|
0.00008
|
|
NM_005732.4(RAD50):c.3769T>G (p.Ser1257Ala)
|
rs786201205
|
0.00008
|
|
NM_005751.5(AKAP9):c.7034_7036del (p.Arg2345_Glu2346delinsLys)
|
rs786205709
|
0.00008
|
|
NM_005908.4(MANBA):c.2311G>T (p.Val771Phe)
|
rs201779762
|
0.00008
|
|
NM_005984.5(SLC25A1):c.526+7C>T
|
rs377553268
|
0.00008
|
|
NM_005993.5(TBCD):c.2178+5A>G
|
rs371823710
|
0.00008
|
|
NM_006017.3(PROM1):c.321A>C (p.Ala107=)
|
rs371975235
|
0.00008
|
|
NM_006019.4(TCIRG1):c.631-15_642dup
|
rs745521166
|
0.00008
|
|
NM_006019.4(TCIRG1):c.826C>T (p.Arg276Trp)
|
rs543099977
|
0.00008
|
|
NM_006031.6(PCNT):c.406G>A (p.Gly136Ser)
|
rs59183158
|
0.00008
|
|
NM_006031.6(PCNT):c.5994+4G>A
|
rs781737632
|
0.00008
|
|
NM_006031.6(PCNT):c.6876C>T (p.Ala2292=)
|
rs761995771
|
0.00008
|
|
NM_006059.4(LAMC3):c.2949C>T (p.Cys983=)
|
rs373660982
|
0.00008
|
|
NM_006182.4(DDR2):c.1474C>T (p.Pro492Ser)
|
rs757051385
|
0.00008
|
|
NM_006206.6(PDGFRA):c.738A>G (p.Gln246=)
|
rs377699966
|
0.00008
|
|
NM_006231.4(POLE):c.1282G>A (p.Ala428Thr)
|
rs150032060
|
0.00008
|
|
NM_006261.5(PROP1):c.423C>T (p.Ala141=)
|
rs200977367
|
0.00008
|
|
NM_006348.5(COG5):c.768A>T (p.Leu256Phe)
|
rs376958885
|
0.00008
|
|
NM_006361.6(HOXB13):c.832G>T (p.Val278Leu)
|
rs200997384
|
0.00008
|
|
NM_006412.4(AGPAT2):c.315G>T (p.Met105Ile)
|
rs746809573
|
0.00008
|
|
NM_006412.4(AGPAT2):c.749G>A (p.Arg250Gln)
|
rs368090654
|
0.00008
|
|
NM_006415.4(SPTLC1):c.1402G>T (p.Ala468Ser)
|
rs748723735
|
0.00008
|
|
NM_006420.3(ARFGEF2):c.2276+6C>T
|
rs368941506
|
0.00008
|
|
NM_006514.4(SCN10A):c.1601G>A (p.Arg534Gln)
|
rs147246725
|
0.00008
|
|
NM_006514.4(SCN10A):c.3712C>G (p.Leu1238Val)
|
rs960602539
|
0.00008
|
|
NM_006514.4(SCN10A):c.446G>A (p.Arg149Gln)
|
rs201706560
|
0.00008
|
|
NM_006516.4(SLC2A1):c.1395C>T (p.Ser465=)
|
rs75852730
|
0.00008
|
|
NM_006516.4(SLC2A1):c.987G>A (p.Glu329=)
|
rs201989024
|
0.00008
|
|
NM_006662.3(SRCAP):c.4105A>G (p.Thr1369Ala)
|
rs751529827
|
0.00008
|
|
NM_006662.3(SRCAP):c.6140C>T (p.Thr2047Met)
|
rs144253022
|
0.00008
|
|
NM_006946.4(SPTBN2):c.5383C>G (p.Gln1795Glu)
|
rs144465703
|
0.00008
|
|
NM_006949.4(STXBP2):c.333C>T (p.Pro111=)
|
rs144233139
|
0.00008
|
|
NM_007078.3(LDB3):c.1075G>A (p.Asp359Asn)
|
rs557956141
|
0.00008
|
|
NM_007078.3(LDB3):c.715G>A (p.Val239Ile)
|
rs201417512
|
0.00008
|
|
NM_007126.5(VCP):c.1194+3G>A
|
rs183223259
|
0.00008
|
|
NM_007175.8(ERLIN2):c.384C>T (p.Cys128=)
|
rs200292614
|
0.00008
|
|
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr)
|
rs531398630
|
0.00008
|
|
NM_007194.4(CHEK2):c.1259+8A>G
|
rs368388249
|
0.00008
|
|
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala)
|
rs562517792
|
0.00008
|
|
NM_007259.5(VPS45):c.1395G>A (p.Gln465=)
|
rs782595882
|
0.00008
|
|
NM_007294.4(BRCA1):c.3649T>C (p.Ser1217Pro)
|
rs273900712
|
0.00008
|
|
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val)
|
rs80357465
|
0.00008
|
|
NM_007294.4(BRCA1):c.884A>G (p.Asp295Gly)
|
rs772684048
|
0.00008
|
|
NM_007373.4(SHOC2):c.74A>G (p.Glu25Gly)
|
rs730881019
|
0.00008
|
|
NM_007375.4(TARDBP):c.36C>T (p.Asn12=)
|
rs565091566
|
0.00008
|
|
NM_012079.6(DGAT1):c.713C>T (p.Pro238Leu)
|
rs373467033
|
0.00008
|
|
NM_012203.2(GRHPR):c.543G>C (p.Leu181=)
|
rs370395134
|
0.00008
|
|
NM_012203.2(GRHPR):c.690C>A (p.Phe230Leu)
|
rs185747820
|
0.00008
|
|
NM_012233.3(RAB3GAP1):c.724T>C (p.Tyr242His)
|
rs577915245
|
0.00008
|
|
NM_013247.5(HTRA2):c.1131A>G (p.Leu377=)
|
rs758108369
|
0.00008
|
|
NM_013275.6(ANKRD11):c.1360G>A (p.Val454Met)
|
rs149569330
|
0.00008
|
|
NM_013275.6(ANKRD11):c.3953C>G (p.Thr1318Ser)
|
rs570483616
|
0.00008
|
|
NM_014141.6(CNTNAP2):c.939+8T>A
|
rs199994339
|
0.00008
|
|
NM_014159.7(SETD2):c.148G>A (p.Ala50Thr)
|
rs191985301
|
0.00008
|
|
NM_014264.5(PLK4):c.1935+6G>A
|
rs56414190
|
0.00008
|
|
NM_014339.7(IL17RA):c.2466G>A (p.Gly822=)
|
rs373070776
|
0.00008
|
|
NM_014363.6(SACS):c.1912T>G (p.Cys638Gly)
|
rs200333323
|
0.00008
|
|
NM_014384.3(ACAD8):c.841+9C>T
|
rs777635296
|
0.00008
|
|
NM_014391.3(ANKRD1):c.27+4T>A
|
rs376540175
|
0.00008
|
|
NM_014391.3(ANKRD1):c.751-4C>A
|
rs780419708
|
0.00008
|
|
NM_014780.5(CUL7):c.4482C>T (p.Ser1494=)
|
rs760462179
|
0.00008
|
|
NM_014845.6(FIG4):c.1940A>G (p.Tyr647Cys)
|
rs150301327
|
0.00008
|
|
NM_014855.3(AP5Z1):c.1938+11C>T
|
rs201888478
|
0.00008
|
|
NM_014874.4(MFN2):c.160G>A (p.Ala54Thr)
|
rs61733203
|
0.00008
|
|
NM_015102.5(NPHP4):c.1923C>T (p.Asn641=)
|
rs372430727
|
0.00008
|
|
NM_015102.5(NPHP4):c.2807C>T (p.Thr936Met)
|
rs201074950
|
0.00008
|
|
NM_015102.5(NPHP4):c.2952G>A (p.Thr984=)
|
rs375493384
|
0.00008
|
|
NM_015346.4(ZFYVE26):c.4293G>C (p.Gln1431His)
|
rs373740172
|
0.00008
|
|
NM_015662.3(IFT172):c.1983T>A (p.His661Gln)
|
rs150739354
|
0.00008
|
|
NM_015702.3(MMADHC):c.600C>T (p.Leu200=)
|
rs754142876
|
0.00008
|
|
NM_016239.4(MYO15A):c.4038+6_4038+7del
|
rs1491110483
|
0.00008
|
|
NM_016239.4(MYO15A):c.5830C>T (p.Arg1944Cys)
|
rs199968059
|
0.00008
|
|
NM_016580.4(PCDH12):c.1182C>A (p.Ser394Arg)
|
rs150994175
|
0.00008
|
|
NM_016580.4(PCDH12):c.2534C>T (p.Thr845Met)
|
rs368872362
|
0.00008
|
|
NM_017534.6(MYH2):c.4149G>A (p.Thr1383=)
|
rs376738763
|
0.00008
|
|
NM_017636.4(TRPM4):c.2020-4A>C
|
rs369498574
|
0.00008
|
|
NM_017636.4(TRPM4):c.2085C>T (p.Leu695=)
|
rs781191851
|
0.00008
|
|
NM_017636.4(TRPM4):c.286C>T (p.Arg96Ter)
|
rs148855956
|
0.00008
|
|
NM_017654.4(SAMD9):c.4586G>A (p.Arg1529His)
|
rs149966534
|
0.00008
|
|
NM_017780.4(CHD7):c.127A>G (p.Ile43Val)
|
rs201542180
|
0.00008
|
|
NM_017780.4(CHD7):c.1324G>A (p.Ala442Thr)
|
rs368086966
|
0.00008
|
|
NM_017780.4(CHD7):c.2194C>G (p.Pro732Ala)
|
rs200277422
|
0.00008
|
|
NM_017780.4(CHD7):c.602A>G (p.Gln201Arg)
|
rs764496155
|
0.00008
|
|
NM_018075.5(ANO10):c.397G>A (p.Glu133Lys)
|
rs571983239
|
0.00008
|
|
NM_018100.4(EFHC1):c.1058G>A (p.Arg353Gln)
|
rs377732929
|
0.00008
|
|
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln)
|
rs145754721
|
0.00008
|
|
NM_018105.3(THAP1):c.590G>A (p.Gly197Asp)
|
rs140694378
|
0.00008
|
|
NM_018136.5(ASPM):c.6131A>G (p.Asn2044Ser)
|
rs145645602
|
0.00008
|
|
NM_018136.5(ASPM):c.7106A>C (p.Gln2369Pro)
|
rs372076208
|
0.00008
|
|
NM_018139.3(DNAAF2):c.1969C>T (p.Leu657Phe)
|
rs187863107
|
0.00008
|
|
NM_018668.5(VPS33B):c.177+5T>A
|
rs747146575
|
0.00008
|
|
NM_018685.5(ANLN):c.1139G>A (p.Arg380His)
|
rs145634440
|
0.00008
|
|
NM_018699.4(PRDM5):c.6G>T (p.Leu2=)
|
rs745891819
|
0.00008
|
|
NM_018896.5(CACNA1G):c.3246G>A (p.Glu1082=)
|
rs769342382
|
0.00008
|
|
NM_018941.4(CLN8):c.300G>A (p.Gln100=)
|
rs148988002
|
0.00008
|
|
NM_018941.4(CLN8):c.522C>T (p.Cys174=)
|
rs148417620
|
0.00008
|
|
NM_018979.4(WNK1):c.4130T>A (p.Val1377Glu)
|
rs574069625
|
0.00008
|
|
NM_019844.4(SLCO1B3):c.459A>G (p.Thr153=)
|
rs370334648
|
0.00008
|
|
NM_020223.4(FAM20C):c.174C>A (p.Pro58=)
|
rs567930512
|
0.00008
|
|
NM_020247.5(COQ8A):c.1899C>T (p.Phe633=)
|
rs150569155
|
0.00008
|
|
NM_020247.5(COQ8A):c.794G>A (p.Arg265His)
|
rs199696414
|
0.00008
|
|
NM_020461.4(TUBGCP6):c.245T>G (p.Leu82Arg)
|
rs200360214
|
0.00008
|
|
NM_020549.5(CHAT):c.326C>T (p.Thr109Met)
|
rs542610160
|
0.00008
|
|
NM_020779.4(WDR35):c.2109T>G (p.Thr703=)
|
rs201822027
|
0.00008
|
|
NM_020822.3(KCNT1):c.1718G>A (p.Arg573His)
|
rs575162600
|
0.00008
|
|
NM_020975.6(RET):c.1879+13C>T
|
rs375573788
|
0.00008
|
|
NM_020975.6(RET):c.2081G>A (p.Arg694Gln)
|
rs141185224
|
0.00008
|
|
NM_020975.6(RET):c.2611G>A (p.Val871Ile)
|
rs145170911
|
0.00008
|
|
NM_021098.3(CACNA1H):c.5346C>T (p.Cys1782=)
|
rs375518094
|
0.00008
|
|
NM_021625.5(TRPV4):c.1729G>A (p.Val577Met)
|
rs140535889
|
0.00008
|
|
NM_021830.5(TWNK):c.1485G>A (p.Arg495=)
|
rs202197777
|
0.00008
|
|
NM_022089.4(ATP13A2):c.1079G>A (p.Gly360Glu)
|
rs566918264
|
0.00008
|
|
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys)
|
rs111033509
|
0.00008
|
|
NM_022124.6(CDH23):c.5442C>T (p.Ile1814=)
|
rs373768157
|
0.00008
|
|
NM_022437.3(ABCG8):c.1200G>A (p.Thr400=)
|
rs369131115
|
0.00008
|
|
NM_022437.3(ABCG8):c.1650G>A (p.Ala550=)
|
rs145754381
|
0.00008
|
|
NM_022437.3(ABCG8):c.62C>T (p.Ser21Leu)
|
rs144411000
|
0.00008
|
|
NM_022437.3(ABCG8):c.694+5G>C
|
rs557890655
|
0.00008
|
|
NM_022455.5(NSD1):c.2465C>G (p.Ser822Cys)
|
rs377684553
|
0.00008
|
|
NM_022455.5(NSD1):c.6259-8A>T
|
rs370529039
|
0.00008
|
|
NM_022455.5(NSD1):c.7597C>G (p.Leu2533Val)
|
rs398124386
|
0.00008
|
|
NM_022489.4(INF2):c.3157G>A (p.Val1053Met)
|
rs760721935
|
0.00008
|
|
NM_022725.4(FANCF):c.349C>A (p.Pro117Thr)
|
rs372625322
|
0.00008
|
|
NM_023036.6(DNAI2):c.855G>A (p.Thr285=)
|
rs144909415
|
0.00008
|
|
NM_024301.5(FKRP):c.54T>A (p.Leu18=)
|
rs565563742
|
0.00008
|
|
NM_024334.3(TMEM43):c.286C>G (p.Arg96Gly)
|
rs754797146
|
0.00008
|
|
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met)
|
rs544554435
|
0.00008
|
|
NM_024422.6(DSC2):c.136G>A (p.Glu46Lys)
|
rs180908546
|
0.00008
|
|
NM_024422.6(DSC2):c.4G>A (p.Glu2Lys)
|
rs762556795
|
0.00008
|
|
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys)
|
rs375699023
|
0.00008
|
|
NM_024675.4(PALB2):c.2128A>G (p.Thr710Ala)
|
rs730881887
|
0.00008
|
|
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn)
|
rs878855107
|
0.00008
|
|
NM_024675.4(PALB2):c.2474G>C (p.Arg825Thr)
|
rs146218439
|
0.00008
|
|
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys)
|
rs587778587
|
0.00008
|
|
NM_024675.4(PALB2):c.3056T>C (p.Val1019Ala)
|
rs376619846
|
0.00008
|
|
NM_024915.4(GRHL2):c.303T>A (p.Ser101Arg)
|
rs140106332
|
0.00008
|
|
NM_025000.4(DCAF17):c.27G>A (p.Val9=)
|
rs570110822
|
0.00008
|
|
NM_025074.7(FRAS1):c.1503C>T (p.Asp501=)
|
rs370655417
|
0.00008
|
|
NM_025099.6(CTC1):c.1946-6C>T
|
rs369285521
|
0.00008
|
|
NM_025099.6(CTC1):c.195T>C (p.Tyr65=)
|
rs764616648
|
0.00008
|
|
NM_025137.4(SPG11):c.1602+10T>G
|
rs201535432
|
0.00008
|
|
NM_025193.4(HSD3B7):c.558G>A (p.Thr186=)
|
rs760192112
|
0.00008
|
|
NM_030662.4(MAP2K2):c.853G>A (p.Asp285Asn)
|
rs150369301
|
0.00008
|
|
NM_031372.4(HNRNPDL):c.314C>T (p.Thr105Ile)
|
rs763175161
|
0.00008
|
|
NM_031433.4(MFRP):c.705C>T (p.Phe235=)
|
rs34190279
|
0.00008
|
|
NM_031433.4(MFRP):c.861C>T (p.Asp287=)
|
rs140710522
|
0.00008
|
|
NM_032119.4(ADGRV1):c.15113T>C (p.Ile5038Thr)
|
rs192561791
|
0.00008
|
|
NM_032119.4(ADGRV1):c.17342A>G (p.Gln5781Arg)
|
rs369717492
|
0.00008
|
|
NM_032119.4(ADGRV1):c.2483T>C (p.Val828Ala)
|
rs757135353
|
0.00008
|
|
NM_032122.5(DTNBP1):c.790A>G (p.Thr264Ala)
|
rs753618520
|
0.00008
|
|
NM_032237.5(POMK):c.704A>G (p.Asn235Ser)
|
rs200742772
|
0.00008
|
|
NM_032520.5(GNPTG):c.489C>T (p.Phe163=)
|
rs370857842
|
0.00008
|
|
NM_032578.4(MYPN):c.3793+4A>G
|
rs145946587
|
0.00008
|
|
NM_033109.5(PNPT1):c.1771A>C (p.Lys591Gln)
|
rs542676905
|
0.00008
|
|
NM_033305.3(VPS13A):c.5786A>G (p.Asn1929Ser)
|
rs748876393
|
0.00008
|
|
NM_033380.3(COL4A5):c.2286A>G (p.Pro762=)
|
rs369726425
|
0.00008
|
|
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys)
|
rs104886270
|
0.00008
|
|
NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys)
|
rs150305490
|
0.00008
|
|
NM_033641.4(COL4A6):c.623C>G (p.Pro208Arg)
|
rs2295919
|
0.00008
|
|
NM_052845.4(MMAB):c.584+15G>A
|
rs750655720
|
0.00008
|
|
NM_052845.4(MMAB):c.644+7G>A
|
rs147637814
|
0.00008
|
|
NM_052845.4(MMAB):c.91C>T (p.Arg31Cys)
|
rs142447736
|
0.00008
|
|
NM_052989.3(IFT122):c.2721G>A (p.Ala907=)
|
rs371570973
|
0.00008
|
|
NM_053025.4(MYLK):c.1212C>A (p.Pro404=)
|
rs765597431
|
0.00008
|
|
NM_053025.4(MYLK):c.3897C>T (p.Ala1299=)
|
rs553472487
|
0.00008
|
|
NM_058216.3(RAD51C):c.-19G>A
|
rs375889604
|
0.00008
|
|
NM_058246.4(DNAJB6):c.342C>A (p.Phe114Leu)
|
rs373354100
|
0.00008
|
|
NM_058246.4(DNAJB6):c.974A>C (p.Asn325Thr)
|
rs375911119
|
0.00008
|
|
NM_080669.6(SLC46A1):c.85G>A (p.Val29Ile)
|
rs41297067
|
0.00008
|
|
NM_080680.3(COL11A2):c.1489C>T (p.Arg497Cys)
|
rs752552097
|
0.00008
|
|
NM_080680.3(COL11A2):c.2326C>T (p.Arg776Cys)
|
rs776701792
|
0.00008
|
|
NM_130837.3(OPA1):c.2636G>A (p.Arg879Gln)
|
rs200412464
|
0.00008
|
|
NM_133379.5(TTN):c.11809A>C (p.Lys3937Gln)
|
rs562658562
|
0.00008
|
|
NM_133379.5(TTN):c.13799A>C (p.Glu4600Ala)
|
rs200760091
|
0.00008
|
|
NM_133433.4(NIPBL):c.6312A>G (p.Lys2104=)
|
rs147865925
|
0.00008
|
|
NM_138694.4(PKHD1):c.11836T>C (p.Leu3946=)
|
rs35403035
|
0.00008
|
|
NM_138694.4(PKHD1):c.1833A>C (p.Thr611=)
|
rs142922408
|
0.00008
|
|
NM_138694.4(PKHD1):c.4009G>A (p.Asp1337Asn)
|
rs373255125
|
0.00008
|
|
NM_138694.4(PKHD1):c.708-5C>T
|
rs371844893
|
0.00008
|
|
NM_139058.3(ARX):c.1269C>T (p.His423=)
|
rs794727656
|
0.00008
|
|
NM_139058.3(ARX):c.303A>G (p.Ala101=)
|
rs797045295
|
0.00008
|
|
NM_144596.4(TTC8):c.267C>A (p.Arg89=)
|
rs200113889
|
0.00008
|
|
NM_152383.5(DIS3L2):c.1205-12G>A
|
rs779551518
|
0.00008
|
|
NM_152564.5(VPS13B):c.11144G>A (p.Arg3715Gln)
|
rs141566041
|
0.00008
|
|
NM_152564.5(VPS13B):c.8244G>A (p.Ser2748=)
|
rs182347753
|
0.00008
|
|
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile)
|
rs147474792
|
0.00008
|
|
NM_153006.3(NAGS):c.722T>C (p.Val241Ala)
|
rs201142696
|
0.00008
|
|
NM_153676.4(USH1C):c.2590C>T (p.Arg864Ter)
|
rs767767573
|
0.00008
|
|
NM_153676.4(USH1C):c.587G>A (p.Arg196Gln)
|
rs397517883
|
0.00008
|
|
NM_170707.4(LMNA):c.471G>A (p.Thr157=)
|
rs150645079
|
0.00008
|
|
NM_173477.5(USH1G):c.491G>C (p.Arg164Pro)
|
rs144633924
|
0.00008
|
|
NM_181332.3(NLGN4X):c.1887C>T (p.Pro629=)
|
rs778014568
|
0.00008
|
|
NM_182548.4(LHFPL5):c.411G>A (p.Ala137=)
|
rs140326236
|
0.00008
|
|
NM_182914.3(SYNE2):c.16127A>G (p.Gln5376Arg)
|
rs753646712
|
0.00008
|
|
NM_182914.3(SYNE2):c.16912G>A (p.Glu5638Lys)
|
rs751734028
|
0.00008
|
|
NM_182914.3(SYNE2):c.3664C>T (p.Arg1222Trp)
|
rs773994020
|
0.00008
|
|
NM_182914.3(SYNE2):c.9404A>G (p.Lys3135Arg)
|
rs376121197
|
0.00008
|
|
NM_182961.4(SYNE1):c.19554C>T (p.Pro6518=)
|
rs780644969
|
0.00008
|
|
NM_182961.4(SYNE1):c.25786A>G (p.Met8596Val)
|
rs746864807
|
0.00008
|
|
NM_182961.4(SYNE1):c.5488T>C (p.Leu1830=)
|
rs118022241
|
0.00008
|
|
NM_194248.3(OTOF):c.5623G>A (p.Val1875Met)
|
rs370691004
|
0.00008
|
|
NM_194248.3(OTOF):c.843C>T (p.Asp281=)
|
rs368728682
|
0.00008
|
|
NM_194277.3(FRMD7):c.892A>G (p.Ser298Gly)
|
rs368404774
|
0.00008
|
|
NM_198525.3(KIF7):c.3225G>A (p.Ser1075=)
|
rs375802364
|
0.00008
|
|
NM_198578.4(LRRK2):c.2771G>A (p.Arg924His)
|
rs200795874
|
0.00008
|
|
NM_201384.3(PLEC):c.11735G>A (p.Arg3912Gln)
|
rs781960031
|
0.00008
|
|
NM_201384.3(PLEC):c.12465C>T (p.Tyr4155=)
|
rs773080070
|
0.00008
|
|
NM_201384.3(PLEC):c.1506G>C (p.Gln502His)
|
rs571497788
|
0.00008
|
|
NM_201384.3(PLEC):c.1650C>T (p.Ser550=)
|
rs541271992
|
0.00008
|
|
NM_201384.3(PLEC):c.2829G>A (p.Ala943=)
|
rs369370495
|
0.00008
|
|
NM_201384.3(PLEC):c.342+7C>T
|
rs367808541
|
0.00008
|
|
NM_201384.3(PLEC):c.4410G>A (p.Gly1470=)
|
rs782222671
|
0.00008
|
|
NM_201384.3(PLEC):c.5469C>T (p.Asp1823=)
|
rs771101893
|
0.00008
|
|
NM_201384.3(PLEC):c.5879G>A (p.Arg1960His)
|
rs367679924
|
0.00008
|
|
NM_201384.3(PLEC):c.9116G>A (p.Ser3039Asn)
|
rs374776968
|
0.00008
|
|
NM_201384.3(PLEC):c.933C>T (p.Phe311=)
|
rs369363676
|
0.00008
|
|
NM_201384.3(PLEC):c.9406G>A (p.Ala3136Thr)
|
rs200680102
|
0.00008
|
|
NM_201384.3(PLEC):c.9749C>T (p.Thr3250Met)
|
rs201349099
|
0.00008
|
|
NM_205850.3(SLC24A5):c.534G>A (p.Ala178=)
|
rs138902406
|
0.00008
|
|
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)
|
rs111033524
|
0.00008
|
|
NM_206933.4(USH2A):c.11008G>A (p.Glu3670Lys)
|
rs140548353
|
0.00008
|
|
NM_206933.4(USH2A):c.14101G>A (p.Glu4701Lys)
|
rs372966682
|
0.00008
|
|
NM_206933.4(USH2A):c.7168G>A (p.Gly2390Arg)
|
rs376983577
|
0.00008
|
|
NM_207122.2(EXT2):c.1685G>A (p.Arg562Gln)
|
rs140561784
|
0.00008
|
|
NM_207346.3(TSEN54):c.1314-20G>A
|
rs377740590
|
0.00008
|
|
NM_000017.4(ACADS):c.327C>T (p.Cys109=)
|
rs144083614
|
0.00007
|
|
NM_000018.4(ACADVL):c.205-7T>C
|
rs760625298
|
0.00007
|
|
NM_000018.4(ACADVL):c.205-8C>G
|
rs774353448
|
0.00007
|
|
NM_000019.4(ACAT1):c.239-8T>A
|
rs202030208
|
0.00007
|
|
NM_000033.4(ABCD1):c.1840G>A (p.Gly614Ser)
|
rs146525445
|
0.00007
|
|
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=)
|
rs199723613
|
0.00007
|
|
NM_000036.3(AMPD1):c.577G>A (p.Asp193Asn)
|
rs376789465
|
0.00007
|
|
NM_000038.6(APC):c.1408+3A>G
|
rs534358523
|
0.00007
|
|
NM_000038.6(APC):c.6173G>A (p.Gly2058Asp)
|
rs150140908
|
0.00007
|
|
NM_000038.6(APC):c.6473C>G (p.Pro2158Arg)
|
rs587779804
|
0.00007
|
|
NM_000038.6(APC):c.7717A>G (p.Ile2573Val)
|
rs145444830
|
0.00007
|
|
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly)
|
rs147287751
|
0.00007
|
|
NM_000051.4(ATM):c.125A>G (p.His42Arg)
|
rs201773026
|
0.00007
|
|
NM_000051.4(ATM):c.2021A>G (p.His674Arg)
|
rs201762714
|
0.00007
|
|
NM_000051.4(ATM):c.496+4T>C
|
rs587781375
|
0.00007
|
|
NM_000051.4(ATM):c.749G>A (p.Arg250Gln)
|
rs56123940
|
0.00007
|
|
NM_000053.4(ATP7B):c.1947-4C>T
|
rs74904335
|
0.00007
|
|
NM_000057.4(BLM):c.178T>A (p.Leu60Ile)
|
rs138542210
|
0.00007
|
|
NM_000059.4(BRCA2):c.1167G>A (p.Pro389=)
|
rs148607710
|
0.00007
|
|
NM_000059.4(BRCA2):c.257T>C (p.Leu86Pro)
|
rs572782576
|
0.00007
|
|
NM_000059.4(BRCA2):c.3173A>G (p.Lys1058Arg)
|
rs431825302
|
0.00007
|
|
NM_000059.4(BRCA2):c.3568C>T (p.Arg1190Trp)
|
rs80358604
|
0.00007
|
|
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu)
|
rs80358912
|
0.00007
|
|
NM_000059.4(BRCA2):c.841G>A (p.Asp281Asn)
|
rs80359088
|
0.00007
|
|
NM_000059.4(BRCA2):c.8953+16C>T
|
rs81002892
|
0.00007
|
|
NM_000069.3(CACNA1S):c.3454A>G (p.Ile1152Val)
|
rs142286187
|
0.00007
|
|
NM_000069.3(CACNA1S):c.700G>A (p.Val234Met)
|
rs370661912
|
0.00007
|
|
NM_000071.3(CBS):c.888G>A (p.Thr296=)
|
rs769593715
|
0.00007
|
|
NM_000075.4(CDK4):c.776C>T (p.Ser259Leu)
|
rs201617914
|
0.00007
|
|
NM_000078.3(CETP):c.89G>A (p.Cys30Tyr)
|
rs771585518
|
0.00007
|
|
NM_000080.4(CHRNE):c.1446G>A (p.Val482=)
|
rs376713095
|
0.00007
|
|
NM_000088.4(COL1A1):c.768C>T (p.Pro256=)
|
rs199891984
|
0.00007
|
|
NM_000091.5(COL4A3):c.599C>T (p.Pro200Leu)
|
rs368480491
|
0.00007
|
|
NM_000093.5(COL5A1):c.4658C>T (p.Pro1553Leu)
|
rs530570306
|
0.00007
|
|
NM_000098.3(CPT2):c.1202G>T (p.Ser401Ile)
|
rs146670074
|
0.00007
|
|
NM_000098.3(CPT2):c.846C>T (p.Pro282=)
|
rs138855128
|
0.00007
|
|
NM_000098.3(CPT2):c.84C>T (p.Gly28=)
|
rs772541454
|
0.00007
|
|
NM_000100.4(CSTB):c.45G>A (p.Glu15=)
|
rs1057521317
|
0.00007
|
|
NM_000117.3(EMD):c.12C>T (p.Tyr4=)
|
rs782011714
|
0.00007
|
|
NM_000117.3(EMD):c.400-9C>T
|
rs782061626
|
0.00007
|
|
NM_000123.4(ERCC5):c.48G>A (p.Gln16=)
|
rs202038276
|
0.00007
|
|
NM_000124.4(ERCC6):c.2125G>A (p.Val709Ile)
|
rs369437807
|
0.00007
|
|
NM_000128.4(F11):c.1200G>A (p.Pro400=)
|
rs150377265
|
0.00007
|
|
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys)
|
rs375241473
|
0.00007
|
|
NM_000135.4(FANCA):c.1225+14C>T
|
rs376558078
|
0.00007
|
|
NM_000135.4(FANCA):c.1573A>G (p.Ile525Val)
|
rs755925068
|
0.00007
|
|
NM_000135.4(FANCA):c.1634G>T (p.Ser545Ile)
|
rs200922390
|
0.00007
|
|
NM_000135.4(FANCA):c.2222+7G>A
|
rs374312736
|
0.00007
|
|
NM_000135.4(FANCA):c.265C>T (p.His89Tyr)
|
rs746125523
|
0.00007
|
|
NM_000135.4(FANCA):c.2981+4dup
|
rs75004096
|
0.00007
|
|
NM_000135.4(FANCA):c.3008A>G (p.Asn1003Ser)
|
rs757175768
|
0.00007
|
|
NM_000135.4(FANCA):c.685G>A (p.Asp229Asn)
|
rs148419748
|
0.00007
|
|
NM_000135.4(FANCA):c.737G>A (p.Gly246Glu)
|
rs555519520
|
0.00007
|
|
NM_000136.3(FANCC):c.345+6A>T
|
rs368595927
|
0.00007
|
|
NM_000138.5(FBN1):c.2746G>A (p.Val916Met)
|
rs373644734
|
0.00007
|
|
NM_000138.5(FBN1):c.4582+3A>G
|
rs777845323
|
0.00007
|
|
NM_000138.5(FBN1):c.5963C>T (p.Thr1988Ile)
|
rs142912485
|
0.00007
|
|
NM_000141.5(FGFR2):c.2124C>T (p.Pro708=)
|
rs140813163
|
0.00007
|
|
NM_000142.5(FGFR3):c.1879G>A (p.Glu627Lys)
|
rs200849753
|
0.00007
|
|
NM_000142.5(FGFR3):c.416A>C (p.Asp139Ala)
|
rs376268669
|
0.00007
|
|
NM_000152.5(GAA):c.2157G>A (p.Ala719=)
|
rs201523530
|
0.00007
|
|
NM_000152.5(GAA):c.658G>T (p.Val220Leu)
|
rs530478036
|
0.00007
|
|
NM_000156.6(GAMT):c.396C>A (p.Ile132=)
|
rs200500835
|
0.00007
|
|
NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe)
|
rs13306411
|
0.00007
|
|
NM_000178.4(GSS):c.1126G>A (p.Gly376Arg)
|
rs146267300
|
0.00007
|
|
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile)
|
rs730881787
|
0.00007
|
|
NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr)
|
rs202127474
|
0.00007
|
|
NM_000191.3(HMGCL):c.244G>A (p.Val82Ile)
|
rs538620811
|
0.00007
|
|
NM_000195.5(HPS1):c.2066G>A (p.Arg689Gln)
|
rs147125175
|
0.00007
|
|
NM_000198.4(HSD3B2):c.750T>C (p.Gly250=)
|
rs755461071
|
0.00007
|
|
NM_000199.5(SGSH):c.720C>T (p.Tyr240=)
|
rs367654527
|
0.00007
|
|
NM_000204.5(CFI):c.616T>A (p.Tyr206Asn)
|
rs371623439
|
0.00007
|
|
NM_000211.5(ITGB2):c.2283C>T (p.Val761=)
|
rs192197684
|
0.00007
|
|
NM_000214.3(JAG1):c.3154G>A (p.Val1052Ile)
|
rs375200637
|
0.00007
|
|
NM_000215.4(JAK3):c.2681-11G>T
|
rs201970522
|
0.00007
|
|
NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn)
|
rs147445322
|
0.00007
|
|
NM_000219.6(KCNE1):c.29C>T (p.Thr10Met)
|
rs144917638
|
0.00007
|
|
NM_000222.3(KIT):c.297C>T (p.Asn99=)
|
rs768599276
|
0.00007
|
|
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu)
|
rs199472864
|
0.00007
|
|
NM_000243.3(MEFV):c.416C>A (p.Ala139Asp)
|
rs575678784
|
0.00007
|
|
NM_000245.4(MET):c.3218C>T (p.Pro1073Leu)
|
rs370529693
|
0.00007
|
|
NM_000246.4(CIITA):c.1683C>T (p.Asp561=)
|
rs76686583
|
0.00007
|
|
NM_000246.4(CIITA):c.1731C>T (p.Tyr577=)
|
rs142848848
|
0.00007
|
|
NM_000249.4(MLH1):c.*4T>C
|
rs750794400
|
0.00007
|
|
NM_000249.4(MLH1):c.117-10G>A
|
rs576724240
|
0.00007
|
|
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala)
|
rs202038499
|
0.00007
|
|
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly)
|
rs63750809
|
0.00007
|
|
NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu)
|
rs148317871
|
0.00007
|
|
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly)
|
rs41295282
|
0.00007
|
|
NM_000249.4(MLH1):c.545+19G>T
|
rs41285099
|
0.00007
|
|
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala)
|
rs267607939
|
0.00007
|
|
NM_000251.3(MSH2):c.1087G>T (p.Val363Leu)
|
rs377345366
|
0.00007
|
|
NM_000251.3(MSH2):c.1560A>G (p.Gly520=)
|
rs63750820
|
0.00007
|
|
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg)
|
rs41295182
|
0.00007
|
|
NM_000251.3(MSH2):c.818T>C (p.Val273Ala)
|
rs144288433
|
0.00007
|
|
NM_000256.3(MYBPC3):c.3107G>A (p.Arg1036His)
|
rs374255381
|
0.00007
|
|
NM_000257.4(MYH7):c.114C>T (p.Phe38=)
|
rs146210693
|
0.00007
|
|
NM_000260.4(MYO7A):c.2308G>A (p.Ala770Thr)
|
rs375253473
|
0.00007
|
|
NM_000260.4(MYO7A):c.2755G>A (p.Ala919Thr)
|
rs782787324
|
0.00007
|
|
NM_000260.4(MYO7A):c.5480+10G>A
|
rs768513428
|
0.00007
|
|
NM_000264.5(PTCH1):c.3241G>A (p.Val1081Met)
|
rs587778629
|
0.00007
|
|
NM_000273.3(GPR143):c.496A>G (p.Thr166Ala)
|
rs754693386
|
0.00007
|
|
NM_000277.3(PAH):c.*144A>G
|
rs375319584
|
0.00007
|
|
NM_000283.4(PDE6B):c.1258-10T>A
|
rs727504074
|
0.00007
|
|
NM_000286.3(PEX12):c.41C>A (p.Ala14Asp)
|
rs193253559
|
0.00007
|
|
NM_000291.4(PGK1):c.846G>C (p.Leu282Phe)
|
rs782668224
|
0.00007
|
|
NM_000295.5(SERPINA1):c.967C>T (p.Leu323=)
|
rs150455534
|
0.00007
|
|
NM_000297.4(PKD2):c.1549-4T>C
|
rs374450718
|
0.00007
|
|
NM_000298.6(PKLR):c.1379T>C (p.Val460Ala)
|
rs149946271
|
0.00007
|
|
NM_000304.4(PMP22):c.88G>A (p.Val30Met)
|
rs377335295
|
0.00007
|
|
NM_000334.4(SCN4A):c.5404G>A (p.Gly1802Arg)
|
rs267604988
|
0.00007
|
|
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys)
|
rs199473339
|
0.00007
|
|
NM_000335.5(SCN5A):c.3118G>A (p.Gly1040Arg)
|
rs199473186
|
0.00007
|
|
NM_000337.6(SGCD):c.402T>C (p.Ala134=)
|
rs190935424
|
0.00007
|
|
NM_000342.4(SLC4A1):c.523C>A (p.Pro175Thr)
|
rs201611359
|
0.00007
|
|
NM_000343.4(SLC5A1):c.1524C>T (p.Thr508=)
|
rs201895474
|
0.00007
|
|
NM_000350.3(ABCA4):c.2517C>T (p.Ser839=)
|
rs138246242
|
0.00007
|
|
NM_000360.4(TH):c.252G>A (p.Leu84=)
|
rs758016812
|
0.00007
|
|
NM_000360.4(TH):c.645C>T (p.His215=)
|
rs768037080
|
0.00007
|
|
NM_000362.5(TIMP3):c.321C>T (p.Arg107=)
|
rs145553035
|
0.00007
|
|
NM_000363.5(TNNI3):c.373-4C>G
|
rs2288530
|
0.00007
|
|
NM_000368.5(TSC1):c.2209-9C>G
|
rs118203660
|
0.00007
|
|
NM_000368.5(TSC1):c.3387C>T (p.Ala1129=)
|
rs200200869
|
0.00007
|
|
NM_000376.3(VDR):c.238C>A (p.Arg80=)
|
rs387907554
|
0.00007
|
|
NM_000383.4(AIRE):c.1095+10C>T
|
rs372932833
|
0.00007
|
|
NM_000383.4(AIRE):c.1323G>A (p.Thr441=)
|
rs201945690
|
0.00007
|
|
NM_000383.4(AIRE):c.564C>G (p.Val188=)
|
rs201650973
|
0.00007
|
|
NM_000384.3(APOB):c.12736T>G (p.Phe4246Val)
|
rs200260789
|
0.00007
|
|
NM_000384.3(APOB):c.2938G>A (p.Ala980Thr)
|
rs369310292
|
0.00007
|
|
NM_000384.3(APOB):c.5600G>A (p.Arg1867Gln)
|
rs371337253
|
0.00007
|
|
NM_000384.3(APOB):c.6655C>T (p.Arg2219Cys)
|
rs141641980
|
0.00007
|
|
NM_000384.3(APOB):c.9491C>T (p.Thr3164Met)
|
rs143269114
|
0.00007
|
|
NM_000391.4(TPP1):c.1323C>T (p.Tyr441=)
|
rs757548236
|
0.00007
|
|
NM_000392.5(ABCC2):c.3379G>A (p.Val1127Ile)
|
rs370049107
|
0.00007
|
|
NM_000392.5(ABCC2):c.99G>A (p.Val33=)
|
rs376241522
|
0.00007
|
|
NM_000400.4(ERCC2):c.5+6A>G
|
rs751637822
|
0.00007
|
|
NM_000426.4(LAMA2):c.7486C>T (p.Leu2496Phe)
|
rs970365005
|
0.00007
|
|
NM_000429.3(MAT1A):c.816C>T (p.Gly272=)
|
rs751778923
|
0.00007
|
|
NM_000435.3(NOTCH3):c.1469G>C (p.Gly490Ala)
|
rs374248747
|
0.00007
|
|
NM_000435.3(NOTCH3):c.4404C>T (p.Asn1468=)
|
rs145425679
|
0.00007
|
|
NM_000435.3(NOTCH3):c.4728G>C (p.Glu1576Asp)
|
rs557113034
|
0.00007
|
|
NM_000439.5(PCSK1):c.180+757A>G
|
rs144071994
|
0.00007
|
|
NM_000452.3(SLC10A2):c.870G>A (p.Pro290=)
|
rs370310605
|
0.00007
|
|
NM_000455.5(STK11):c.-2G>T
|
rs774072752
|
0.00007
|
|
NM_000455.5(STK11):c.1127A>C (p.Glu376Ala)
|
rs373888280
|
0.00007
|
|
NM_000455.5(STK11):c.357C>T (p.Asn119=)
|
rs372511774
|
0.00007
|
|
NM_000455.5(STK11):c.734+20G>A
|
rs375315233
|
0.00007
|
|
NM_000458.4(HNF1B):c.*22G>A
|
rs200421746
|
0.00007
|
|
NM_000466.3(PEX1):c.2465T>G (p.Leu822Arg)
|
rs545731416
|
0.00007
|
|
NM_000481.4(AMT):c.159G>A (p.Ala53=)
|
rs201080782
|
0.00007
|
|
NM_000481.4(AMT):c.713C>T (p.Ala238Val)
|
rs199985521
|
0.00007
|
|
NM_000489.6(ATRX):c.1168C>T (p.Arg390Cys)
|
rs150484080
|
0.00007
|
|
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly)
|
rs782553301
|
0.00007
|
|
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)
|
rs142920240
|
0.00007
|
|
NM_000497.4(CYP11B1):c.1144C>T (p.Leu382=)
|
rs5293
|
0.00007
|
|
NM_000498.3(CYP11B2):c.1041C>T (p.Ala347=)
|
rs369251345
|
0.00007
|
|
NM_000503.6(EYA1):c.890G>A (p.Arg297Gln)
|
rs148647933
|
0.00007
|
|
NM_000515.5(GH1):c.171+6C>T
|
rs191202934
|
0.00007
|
|
NM_000517.6(HBA2):c.*98T>C
|
rs1455865276
|
0.00007
|
|
NM_000518.5(HBB):c.389C>T (p.Ala130Val)
|
rs111645889
|
0.00007
|
|
NM_000520.6(HEXA):c.102C>T (p.Asp34=)
|
rs377310315
|
0.00007
|
|
NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln)
|
rs200142970
|
0.00007
|
|
NM_000535.7(PMS2):c.1280G>A (p.Arg427His)
|
rs112902065
|
0.00007
|
|
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser)
|
rs63751211
|
0.00007
|
|
NM_000535.7(PMS2):c.230A>C (p.Glu77Ala)
|
rs777095030
|
0.00007
|
|
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met)
|
rs371673459
|
0.00007
|
|
NM_000535.7(PMS2):c.384G>A (p.Ser128=)
|
rs371342884
|
0.00007
|
|
NM_000540.3(RYR1):c.10032C>T (p.Pro3344=)
|
rs376687300
|
0.00007
|
|
NM_000540.3(RYR1):c.10260-12C>T
|
rs779541890
|
0.00007
|
|
NM_000540.3(RYR1):c.11260-13C>T
|
rs540088883
|
0.00007
|
|
NM_000540.3(RYR1):c.12888G>C (p.Arg4296=)
|
rs571850239
|
0.00007
|
|
NM_000540.3(RYR1):c.2251G>A (p.Val751Met)
|
rs767667578
|
0.00007
|
|
NM_000540.3(RYR1):c.5637C>T (p.Asp1879=)
|
rs143418190
|
0.00007
|
|
NM_000540.3(RYR1):c.6670C>T (p.Arg2224Cys)
|
rs199870223
|
0.00007
|
|
NM_000540.3(RYR1):c.7028-8G>A
|
rs147390699
|
0.00007
|
|
NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr)
|
rs767805554
|
0.00007
|
|
NM_000541.5(SAG):c.357G>A (p.Thr119=)
|
rs757487948
|
0.00007
|
|
NM_000545.8(HNF1A):c.-181G>A
|
rs980850048
|
0.00007
|
|
NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu)
|
rs137854065
|
0.00007
|
|
NM_000548.5(TSC2):c.619G>A (p.Val207Ile)
|
rs139929314
|
0.00007
|
|
NM_000548.5(TSC2):c.710C>T (p.Pro237Leu)
|
rs139060277
|
0.00007
|
|
NM_000553.6(WRN):c.1302G>A (p.Thr434=)
|
rs374140086
|
0.00007
|
|
NM_000601.6(HGF):c.1832G>C (p.Ser611Thr)
|
rs141774517
|
0.00007
|
|
NM_000628.5(IL10RB):c.804+8G>A
|
rs112943706
|
0.00007
|
|
NM_000642.3(AGL):c.3668G>A (p.Gly1223Asp)
|
rs202046937
|
0.00007
|
|
NM_000719.7(CACNA1C):c.3200C>T (p.Ala1067Val)
|
rs750998195
|
0.00007
|
|
NM_000719.7(CACNA1C):c.5729G>A (p.Arg1910Gln)
|
rs190288386
|
0.00007
|
|
NM_000719.7(CACNA1C):c.6388G>A (p.Asp2130Asn)
|
rs199473392
|
0.00007
|
|
NM_000733.4(CD3E):c.103+10T>C
|
rs143015515
|
0.00007
|
|
NM_000744.7(CHRNA4):c.1494C>T (p.Ala498=)
|
rs137860047
|
0.00007
|
|
NM_000780.4(CYP7A1):c.1215+8C>T
|
rs368417648
|
0.00007
|
|
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg)
|
rs369969903
|
0.00007
|
|
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=)
|
rs371636461
|
0.00007
|
|
NM_000789.4(ACE):c.140A>G (p.Gln47Arg)
|
rs767353320
|
0.00007
|
|
NM_000844.4(GRM7):c.1616C>T (p.Thr539Ile)
|
rs141283776
|
0.00007
|
|
NM_001005242.3(PKP2):c.795G>T (p.Gly265=)
|
rs375268778
|
0.00007
|
|
NM_001009944.3(PKD1):c.5453C>T (p.Ala1818Val)
|
rs746910149
|
0.00007
|
|
NM_001014.5(RPS10):c.71A>G (p.Lys24Arg)
|
rs201147592
|
0.00007
|
|
NM_001018115.3(FANCD2):c.1338A>C (p.Leu446=)
|
rs752268889
|
0.00007
|
|
NM_001035.3(RYR2):c.10017C>T (p.His3339=)
|
rs376439588
|
0.00007
|
|
NM_001035.3(RYR2):c.1144G>A (p.Val382Met)
|
rs370057029
|
0.00007
|
|
NM_001035.3(RYR2):c.11766G>A (p.Glu3922=)
|
rs774625105
|
0.00007
|
|
NM_001037.5(SCN1B):c.449-3C>A
|
rs370937269
|
0.00007
|
|
NM_001039141.3(TRIOBP):c.5867C>T (p.Pro1956Leu)
|
rs756017020
|
0.00007
|
|
NM_001040108.2(MLH3):c.3576C>T (p.Leu1192=)
|
rs376981545
|
0.00007
|
|
NM_001042432.2(CLN3):c.291G>A (p.Thr97=)
|
rs367945307
|
0.00007
|
|
NM_001042492.3(NF1):c.1392+6A>T
|
rs200798969
|
0.00007
|
|
NM_001042492.3(NF1):c.1528-10T>C
|
rs376174484
|
0.00007
|
|
NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile)
|
rs376655102
|
0.00007
|
|
NM_001048174.2(MUTYH):c.1107G>T (p.Leu369=)
|
rs201412035
|
0.00007
|
|
NM_001077365.2(POMT1):c.1746C>T (p.Ser582=)
|
rs376373313
|
0.00007
|
|
NM_001079866.2(BCS1L):c.201C>T (p.Leu67=)
|
rs142540289
|
0.00007
|
|
NM_001080467.3(MYO5B):c.2644C>T (p.Arg882Trp)
|
rs777961930
|
0.00007
|
|
NM_001080517.3(SETD5):c.1525-5T>C
|
rs532565367
|
0.00007
|
|
NM_001103.4(ACTN2):c.331G>A (p.Gly111Arg)
|
rs148628141
|
0.00007
|
|
NM_001105206.3(LAMA4):c.2090G>A (p.Arg697His)
|
rs397516723
|
0.00007
|
|
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met)
|
rs398123617
|
0.00007
|
|
NM_001110556.2(FLNA):c.7172G>A (p.Arg2391His)
|
rs727503930
|
0.00007
|
|
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp)
|
rs192609440
|
0.00007
|
|
NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys)
|
rs143876280
|
0.00007
|
|
NM_001111125.3(IQSEC2):c.1711G>A (p.Gly571Ser)
|
rs797044752
|
0.00007
|
|
NM_001111125.3(IQSEC2):c.684C>T (p.Ser228=)
|
rs781940286
|
0.00007
|
|
NM_001114134.2(EPB42):c.620A>G (p.Gln207Arg)
|
rs758323919
|
0.00007
|
|
NM_001114753.3(ENG):c.121G>A (p.Glu41Lys)
|
rs199675436
|
0.00007
|
|
NM_001114753.3(ENG):c.1762G>A (p.Val588Ile)
|
rs201768056
|
0.00007
|
|
NM_001126108.2(SLC12A3):c.2857-7C>T
|
rs745327566
|
0.00007
|
|
NM_001127222.2(CACNA1A):c.5868C>T (p.Tyr1956=)
|
rs371972266
|
0.00007
|
|
NM_001130823.3(DNMT1):c.327C>T (p.Asn109=)
|
rs144685297
|
0.00007
|
|
NM_001130987.2(DYSF):c.1281C>T (p.Asp427=)
|
rs147244033
|
0.00007
|
|
NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His)
|
rs777489323
|
0.00007
|
|
NM_001130987.2(DYSF):c.2937C>T (p.Pro979=)
|
rs192717273
|
0.00007
|
|
NM_001130987.2(DYSF):c.3505C>T (p.Arg1169Cys)
|
rs200719174
|
0.00007
|
|
NM_001134363.3(RBM20):c.1053C>T (p.Asp351=)
|
rs192232825
|
0.00007
|
|
NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr)
|
rs373797219
|
0.00007
|
|
NM_001134363.3(RBM20):c.2244T>G (p.Ser748=)
|
rs727503388
|
0.00007
|
|
NM_001134407.3(GRIN2A):c.3898A>G (p.Arg1300Gly)
|
rs372353067
|
0.00007
|
|
NM_001136193.2(FASTKD2):c.558A>G (p.Thr186=)
|
rs569854101
|
0.00007
|
|
NM_001142800.2(EYS):c.8233+9G>A
|
rs779154270
|
0.00007
|
|
NM_001142864.4(PIEZO1):c.1504C>T (p.Arg502Cys)
|
rs750545429
|
0.00007
|
|
NM_001142864.4(PIEZO1):c.7381G>A (p.Glu2461Lys)
|
rs371391349
|
0.00007
|
|
NM_001142864.4(PIEZO1):c.988C>T (p.Arg330Cys)
|
rs546108970
|
0.00007
|
|
NM_001148.6(ANK2):c.11470C>G (p.Pro3824Ala)
|
rs747961230
|
0.00007
|
|
NM_001148.6(ANK2):c.3931G>A (p.Val1311Ile)
|
rs34065266
|
0.00007
|
|
NM_001148.6(ANK2):c.4016C>T (p.Pro1339Leu)
|
rs371357815
|
0.00007
|
|
NM_001148.6(ANK2):c.6505G>A (p.Val2169Ile)
|
rs149292242
|
0.00007
|
|
NM_001148.6(ANK2):c.7964C>T (p.Ser2655Leu)
|
rs373153154
|
0.00007
|
|
NM_001148.6(ANK2):c.8166G>A (p.Met2722Ile)
|
rs193922637
|
0.00007
|
|
NM_001161352.2(KCNMA1):c.3627C>T (p.Ile1209=)
|
rs201924445
|
0.00007
|
|
NM_001164508.2(NEB):c.11034G>A (p.Pro3678=)
|
rs528974814
|
0.00007
|
|
NM_001164508.2(NEB):c.11116A>G (p.Ile3706Val)
|
rs199551865
|
0.00007
|
|
NM_001164508.2(NEB):c.16817A>G (p.Tyr5606Cys)
|
rs372049328
|
0.00007
|
|
NM_001164508.2(NEB):c.19732-8C>T
|
rs137934821
|
0.00007
|
|
NM_001164508.2(NEB):c.20245C>A (p.Gln6749Lys)
|
rs772854423
|
0.00007
|
|
NM_001164508.2(NEB):c.368G>A (p.Arg123His)
|
rs546250852
|
0.00007
|
|
NM_001164508.2(NEB):c.5616G>A (p.Pro1872=)
|
rs368371414
|
0.00007
|
|
NM_001164508.2(NEB):c.6097G>A (p.Glu2033Lys)
|
rs956309067
|
0.00007
|
|
NM_001164508.2(NEB):c.6482G>A (p.Arg2161His)
|
rs373778424
|
0.00007
|
|
NM_001166114.2(PNPLA6):c.3450G>A (p.Gly1150=)
|
rs367675784
|
0.00007
|
|
NM_001182.5(ALDH7A1):c.200C>T (p.Thr67Met)
|
rs543181020
|
0.00007
|
|
NM_001193315.2(VIPAS39):c.78C>T (p.Asp26=)
|
rs112217896
|
0.00007
|
|
NM_001197104.2(KMT2A):c.9400C>T (p.Leu3134Phe)
|
rs138969270
|
0.00007
|
|
NM_001199107.2(TBC1D24):c.178C>T (p.Arg60Trp)
|
rs373914077
|
0.00007
|
|
NM_001199799.2(ILDR1):c.1324C>T (p.Arg442Cys)
|
rs141559449
|
0.00007
|
|
NM_001242896.3(DEPDC5):c.2576C>T (p.Thr859Met)
|
rs200744555
|
0.00007
|
|
NM_001256789.3(CACNA1F):c.1156G>A (p.Gly386Arg)
|
rs782315613
|
0.00007
|
|
NM_001267550.2(TTN):c.102984C>T (p.Asp34328=)
|
rs541125667
|
0.00007
|
|
NM_001267550.2(TTN):c.103828C>T (p.Arg34610Cys)
|
rs376443365
|
0.00007
|
|
NM_001267550.2(TTN):c.104298T>C (p.Ala34766=)
|
rs751788327
|
0.00007
|
|
NM_001267550.2(TTN):c.104943A>G (p.Glu34981=)
|
rs372312805
|
0.00007
|
|
NM_001267550.2(TTN):c.105260C>T (p.Thr35087Met)
|
rs397517795
|
0.00007
|
|
NM_001267550.2(TTN):c.105383C>T (p.Ala35128Val)
|
rs758458467
|
0.00007
|
|
NM_001267550.2(TTN):c.11996A>G (p.Asn3999Ser)
|
rs199844346
|
0.00007
|
|
NM_001267550.2(TTN):c.13227C>T (p.Ser4409=)
|
rs571473566
|
0.00007
|
|
NM_001267550.2(TTN):c.14302G>A (p.Gly4768Ser)
|
rs727503652
|
0.00007
|
|
NM_001267550.2(TTN):c.20924C>T (p.Pro6975Leu)
|
rs374493881
|
0.00007
|
|
NM_001267550.2(TTN):c.21036G>T (p.Arg7012Ser)
|
rs1024577519
|
0.00007
|
|
NM_001267550.2(TTN):c.25853G>A (p.Gly8618Glu)
|
rs369947439
|
0.00007
|
|
NM_001267550.2(TTN):c.27193T>C (p.Cys9065Arg)
|
rs201229221
|
0.00007
|
|
NM_001267550.2(TTN):c.28098C>G (p.Ser9366Arg)
|
rs374930292
|
0.00007
|
|
NM_001267550.2(TTN):c.28354G>A (p.Ala9452Thr)
|
rs527663092
|
0.00007
|
|
NM_001267550.2(TTN):c.32035G>A (p.Val10679Ile)
|
rs369932282
|
0.00007
|
|
NM_001267550.2(TTN):c.33340+5A>C
|
rs373367032
|
0.00007
|
|
NM_001267550.2(TTN):c.40502G>A (p.Arg13501His)
|
rs571348685
|
0.00007
|
|
NM_001267550.2(TTN):c.4081A>C (p.Ile1361Leu)
|
rs145308734
|
0.00007
|
|
NM_001267550.2(TTN):c.44423A>C (p.Lys14808Thr)
|
rs374419129
|
0.00007
|
|
NM_001267550.2(TTN):c.52890C>T (p.Thr17630=)
|
rs374228930
|
0.00007
|
|
NM_001267550.2(TTN):c.53142T>C (p.Asp17714=)
|
rs373316165
|
0.00007
|
|
NM_001267550.2(TTN):c.53444T>C (p.Ile17815Thr)
|
rs374563054
|
0.00007
|
|
NM_001267550.2(TTN):c.53807G>A (p.Arg17936His)
|
rs727503604
|
0.00007
|
|
NM_001267550.2(TTN):c.56019T>C (p.Thr18673=)
|
rs183047238
|
0.00007
|
|
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr)
|
rs377000174
|
0.00007
|
|
NM_001267550.2(TTN):c.60025A>G (p.Ile20009Val)
|
rs371988490
|
0.00007
|
|
NM_001267550.2(TTN):c.63065G>A (p.Arg21022His)
|
rs727503585
|
0.00007
|
|
NM_001267550.2(TTN):c.69660A>G (p.Ala23220=)
|
rs371996901
|
0.00007
|
|
NM_001267550.2(TTN):c.70042G>A (p.Ala23348Thr)
|
rs775146212
|
0.00007
|
|
NM_001267550.2(TTN):c.70172T>C (p.Ile23391Thr)
|
rs375202101
|
0.00007
|
|
NM_001267550.2(TTN):c.71452A>G (p.Ile23818Val)
|
rs776911847
|
0.00007
|
|
NM_001267550.2(TTN):c.72475A>G (p.Ile24159Val)
|
rs371764714
|
0.00007
|
|
NM_001267550.2(TTN):c.72824A>T (p.Lys24275Ile)
|
rs199860952
|
0.00007
|
|
NM_001267550.2(TTN):c.73994C>T (p.Thr24665Met)
|
rs144398602
|
0.00007
|
|
NM_001267550.2(TTN):c.77043T>C (p.Tyr25681=)
|
rs370810609
|
0.00007
|
|
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=)
|
rs375398118
|
0.00007
|
|
NM_001267550.2(TTN):c.7891G>A (p.Val2631Ile)
|
rs766753906
|
0.00007
|
|
NM_001267550.2(TTN):c.79344G>T (p.Val26448=)
|
rs369875680
|
0.00007
|
|
NM_001267550.2(TTN):c.9326A>G (p.Lys3109Arg)
|
rs753036867
|
0.00007
|
|
NM_001267550.2(TTN):c.93725G>A (p.Arg31242His)
|
rs369899675
|
0.00007
|
|
NM_001267550.2(TTN):c.96883G>A (p.Val32295Met)
|
rs199532781
|
0.00007
|
|
NM_001267550.2(TTN):c.98243G>A (p.Arg32748His)
|
rs397517775
|
0.00007
|
|
NM_001271.4(CHD2):c.4984C>T (p.His1662Tyr)
|
rs146275216
|
0.00007
|
|
NM_001276345.2(TNNT2):c.52+7G>A
|
rs374443596
|
0.00007
|
|
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp)
|
rs45466197
|
0.00007
|
|
NM_001277115.2(DNAH11):c.1170G>A (p.Glu390=)
|
rs776924184
|
0.00007
|
|
NM_001277115.2(DNAH11):c.13175C>T (p.Thr4392Met)
|
rs181603431
|
0.00007
|
|
NM_001277115.2(DNAH11):c.8316+7G>A
|
rs369837420
|
0.00007
|
|
NM_001277115.2(DNAH11):c.9103-15T>C
|
rs551974653
|
0.00007
|
|
NM_001278116.2(L1CAM):c.2106G>A (p.Pro702=)
|
rs200561489
|
0.00007
|
|
NM_001291303.3(FAT4):c.1802A>G (p.Glu601Gly)
|
rs377156485
|
0.00007
|
|
NM_001292063.2(OTOG):c.5981C>T (p.Ala1994Val)
|
rs11024341
|
0.00007
|
|
NM_001330078.2(NRXN1):c.2437C>T (p.Arg813Cys)
|
rs201150987
|
0.00007
|
|
NM_001354768.3(NRL):c.199C>T (p.Pro67Ser)
|
rs199691910
|
0.00007
|
|
NM_001358921.2(COQ2):c.85T>C (p.Phe29Leu)
|
rs863223933
|
0.00007
|
|
NM_001360.3(DHCR7):c.840C>T (p.Tyr280=)
|
rs148468879
|
0.00007
|
|
NM_001360.3(DHCR7):c.855C>T (p.Phe285=)
|
rs781026169
|
0.00007
|
|
NM_001365088.1(SLC12A6):c.1601A>G (p.Asn534Ser)
|
rs778821191
|
0.00007
|
|
NM_001365088.1(SLC12A6):c.21C>T (p.Thr7=)
|
rs146902000
|
0.00007
|
|
NM_001365276.2(TNXB):c.7296C>T (p.Thr2432=)
|
rs753041189
|
0.00007
|
|
NM_001365999.1(SZT2):c.9287-8T>C
|
rs183871754
|
0.00007
|
|
NM_001367624.2(ZNF469):c.2873T>C (p.Leu958Pro)
|
rs370402083
|
0.00007
|
|
NM_001367624.2(ZNF469):c.4829G>A (p.Arg1610His)
|
rs567038987
|
0.00007
|
|
NM_001367721.1(CASK):c.1669-8C>G
|
rs201327474
|
0.00007
|
|
NM_001369.3(DNAH5):c.10646A>G (p.Glu3549Gly)
|
rs758546967
|
0.00007
|
|
NM_001369.3(DNAH5):c.13746C>T (p.Tyr4582=)
|
rs369094478
|
0.00007
|
|
NM_001369.3(DNAH5):c.4502C>T (p.Thr1501Ile)
|
rs368448770
|
0.00007
|
|
NM_001369.3(DNAH5):c.4562A>G (p.Glu1521Gly)
|
rs374248199
|
0.00007
|
|
NM_001369.3(DNAH5):c.477C>T (p.Gly159=)
|
rs897766386
|
0.00007
|
|
NM_001374385.1(ATP8B1):c.2904C>T (p.Tyr968=)
|
rs376358532
|
0.00007
|
|
NM_001374828.1(ARID1B):c.5464A>G (p.Met1822Val)
|
rs369339813
|
0.00007
|
|
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=)
|
rs35092963
|
0.00007
|
|
NM_001378454.1(ALMS1):c.11748G>A (p.Glu3916=)
|
rs373364340
|
0.00007
|
|
NM_001378454.1(ALMS1):c.3974T>G (p.Val1325Gly)
|
rs868269804
|
0.00007
|
|
NM_001378454.1(ALMS1):c.9321A>G (p.Val3107=)
|
rs371108940
|
0.00007
|
|
NM_001378615.1(CC2D2A):c.3652C>A (p.Arg1218=)
|
rs375278294
|
0.00007
|
|
NM_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr)
|
rs146843542
|
0.00007
|
|
NM_001379500.1(COL18A1):c.651+17C>T
|
rs578202936
|
0.00007
|
|
NM_001384474.1(LOXHD1):c.2599-12C>T
|
rs892676326
|
0.00007
|
|
NM_001458.5(FLNC):c.1142G>A (p.Arg381His)
|
rs776469396
|
0.00007
|
|
NM_001458.5(FLNC):c.3872G>A (p.Arg1291His)
|
rs370042010
|
0.00007
|
|
NM_001466.4(FZD2):c.655C>T (p.Arg219Cys)
|
rs375633511
|
0.00007
|
|
NM_001482.3(GATM):c.1041C>T (p.Asp347=)
|
rs139599307
|
0.00007
|
|
NM_001711.6(BGN):c.1030T>C (p.Tyr344His)
|
rs201184042
|
0.00007
|
|
NM_001759.4(CCND2):c.455C>A (p.Ala152Glu)
|
rs199719393
|
0.00007
|
|
NM_001844.5(COL2A1):c.2463G>A (p.Pro821=)
|
rs769766820
|
0.00007
|
|
NM_001844.5(COL2A1):c.2949C>T (p.Val983=)
|
rs201719788
|
0.00007
|
|
NM_001844.5(COL2A1):c.3719G>A (p.Arg1240Gln)
|
rs770482348
|
0.00007
|
|
NM_001844.5(COL2A1):c.4095T>C (p.Asn1365=)
|
rs367625071
|
0.00007
|
|
NM_001845.6(COL4A1):c.4442G>A (p.Arg1481Gln)
|
rs376607450
|
0.00007
|
|
NM_001846.4(COL4A2):c.4534T>C (p.Trp1512Arg)
|
rs200314049
|
0.00007
|
|
NM_001848.3(COL6A1):c.1684A>G (p.Ile562Val)
|
rs374315921
|
0.00007
|
|
NM_001849.4(COL6A2):c.3018G>A (p.Ala1006=)
|
rs61735832
|
0.00007
|
|
NM_001849.4(COL6A2):c.981C>T (p.Asn327=)
|
rs768836349
|
0.00007
|
|
NM_001851.6(COL9A1):c.15-3C>T
|
rs367798424
|
0.00007
|
|
NM_001853.4(COL9A3):c.1624G>A (p.Ala542Thr)
|
rs190167637
|
0.00007
|
|
NM_001854.4(COL11A1):c.1138G>A (p.Glu380Lys)
|
rs372387693
|
0.00007
|
|
NM_001854.4(COL11A1):c.3229C>A (p.Pro1077Thr)
|
rs144562769
|
0.00007
|
|
NM_001854.4(COL11A1):c.4495C>T (p.Pro1499Ser)
|
rs199952288
|
0.00007
|
|
NM_001875.5(CPS1):c.167T>G (p.Met56Arg)
|
rs778958318
|
0.00007
|
|
NM_001876.4(CPT1A):c.525G>A (p.Pro175=)
|
rs371805329
|
0.00007
|
|
NM_001927.4(DES):c.193G>A (p.Gly65Ser)
|
rs397516692
|
0.00007
|
|
NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala)
|
rs191300661
|
0.00007
|
|
NM_001972.4(ELANE):c.524C>T (p.Thr175Met)
|
rs193141883
|
0.00007
|
|
NM_001972.4(ELANE):c.68-13G>A
|
rs371409487
|
0.00007
|
|
NM_002047.4(GARS1):c.562G>A (p.Val188Ile)
|
rs376772628
|
0.00007
|
|
NM_002055.5(GFAP):c.848A>G (p.Asn283Ser)
|
rs201382676
|
0.00007
|
|
NM_002163.4(IRF8):c.988+10G>A
|
rs371410129
|
0.00007
|
|
NM_002230.4(JUP):c.2030C>T (p.Pro677Leu)
|
rs782622653
|
0.00007
|
|
NM_002230.4(JUP):c.356C>T (p.Pro119Leu)
|
rs376123010
|
0.00007
|
|
NM_002230.4(JUP):c.427G>A (p.Ala143Thr)
|
rs375788626
|
0.00007
|
|
NM_002230.4(JUP):c.526C>T (p.Arg176Trp)
|
rs368336007
|
0.00007
|
|
NM_002230.4(JUP):c.529C>T (p.Arg177Trp)
|
rs148484473
|
0.00007
|
|
NM_002234.4(KCNA5):c.464A>G (p.Tyr155Cys)
|
rs202117321
|
0.00007
|
|
NM_002241.5(KCNJ10):c.405C>T (p.Tyr135=)
|
rs765590257
|
0.00007
|
|
NM_002272.4(KRT4):c.364C>G (p.Leu122Val)
|
rs758695571
|
0.00007
|
|
NM_002292.4(LAMB2):c.2295C>T (p.Cys765=)
|
rs201289156
|
0.00007
|
|
NM_002292.4(LAMB2):c.795G>A (p.Glu265=)
|
rs375953746
|
0.00007
|
|
NM_002335.4(LRP5):c.996C>T (p.Asn332=)
|
rs956302502
|
0.00007
|
|
NM_002435.3(MPI):c.849C>T (p.Cys283=)
|
rs377419930
|
0.00007
|
|
NM_002454.3(MTRR):c.21A>G (p.Leu7=)
|
rs114427781
|
0.00007
|
|
NM_002471.4(MYH6):c.3988G>A (p.Ala1330Thr)
|
rs757840030
|
0.00007
|
|
NM_002473.6(MYH9):c.2719A>G (p.Thr907Ala)
|
rs754354210
|
0.00007
|
|
NM_002473.6(MYH9):c.5074G>A (p.Ala1692Thr)
|
rs767426084
|
0.00007
|
|
NM_002473.6(MYH9):c.5151-4G>A
|
rs368125656
|
0.00007
|
|
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr)
|
rs138863103
|
0.00007
|
|
NM_002485.5(NBN):c.1382C>T (p.Pro461Leu)
|
rs367760321
|
0.00007
|
|
NM_002485.5(NBN):c.1979G>C (p.Arg660Thr)
|
rs201781110
|
0.00007
|
|
NM_002528.7(NTHL1):c.37C>T (p.Arg13Trp)
|
rs3087469
|
0.00007
|
|
NM_002529.4(NTRK1):c.585G>A (p.Thr195=)
|
rs182531655
|
0.00007
|
|
NM_002529.4(NTRK1):c.658C>T (p.Arg220Trp)
|
rs202030811
|
0.00007
|
|
NM_002637.4(PHKA1):c.1964G>A (p.Arg655His)
|
rs782528091
|
0.00007
|
|
NM_002641.4(PIGA):c.61A>G (p.Ser21Gly)
|
rs375401655
|
0.00007
|
|
NM_002691.4(POLD1):c.2178G>C (p.Gln726His)
|
rs747483140
|
0.00007
|
|
NM_002693.3(POLG):c.2051A>G (p.Asn684Ser)
|
rs202244328
|
0.00007
|
|
NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp)
|
rs369544574
|
0.00007
|
|
NM_002755.4(MAP2K1):c.1068+18G>A
|
rs369137482
|
0.00007
|
|
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe)
|
rs397516797
|
0.00007
|
|
NM_002860.4(ALDH18A1):c.-5G>A
|
rs371024575
|
0.00007
|
|
NM_002878.4(RAD51D):c.394G>A (p.Val132Ile)
|
rs201141245
|
0.00007
|
|
NM_002906.4(RDX):c.777A>G (p.Pro259=)
|
rs142773831
|
0.00007
|
|
NM_002968.3(SALL1):c.3270C>T (p.Asn1090=)
|
rs143637930
|
0.00007
|
|
NM_003000.3(SDHB):c.178A>G (p.Thr60Ala)
|
rs34599281
|
0.00007
|
|
NM_003060.4(SLC22A5):c.415G>A (p.Asp139Asn)
|
rs577131769
|
0.00007
|
|
NM_003070.5(SMARCA2):c.1854C>T (p.Asp618=)
|
rs140464170
|
0.00007
|
|
NM_003098.3(SNTA1):c.1442C>T (p.Ser481Leu)
|
rs370531842
|
0.00007
|
|
NM_003119.4(SPG7):c.306C>T (p.Asn102=)
|
rs147397994
|
0.00007
|
|
NM_003172.4(SURF1):c.321C>T (p.Ala107=)
|
rs141425824
|
0.00007
|
|
NM_003361.4(UMOD):c.567C>T (p.Tyr189=)
|
rs387907553
|
0.00007
|
|
NM_003383.5(VLDLR):c.104C>T (p.Pro35Leu)
|
rs113809568
|
0.00007
|
|
NM_003392.7(WNT5A):c.819G>A (p.Ala273=)
|
rs200583587
|
0.00007
|
|
NM_003465.3(CHIT1):c.549G>A (p.Ala183=)
|
rs371464440
|
0.00007
|
|
NM_003482.4(KMT2D):c.16214G>A (p.Arg5405His)
|
rs566674356
|
0.00007
|
|
NM_003482.4(KMT2D):c.2646G>A (p.Leu882=)
|
rs376227770
|
0.00007
|
|
NM_003482.4(KMT2D):c.5645-3C>T
|
rs544332856
|
0.00007
|
|
NM_003482.4(KMT2D):c.7198C>G (p.Pro2400Ala)
|
rs35111108
|
0.00007
|
|
NM_003482.4(KMT2D):c.7829T>C (p.Leu2610Pro)
|
rs200998047
|
0.00007
|
|
NM_003482.4(KMT2D):c.859A>G (p.Lys287Glu)
|
rs375915416
|
0.00007
|
|
NM_003560.4(PLA2G6):c.1614C>T (p.Arg538=)
|
rs373930150
|
0.00007
|
|
NM_003630.3(PEX3):c.473C>G (p.Pro158Arg)
|
rs199781957
|
0.00007
|
|
NM_003640.5(ELP1):c.2769A>G (p.Thr923=)
|
rs370330097
|
0.00007
|
|
NM_003839.4(TNFRSF11A):c.121G>A (p.Glu41Lys)
|
rs149317524
|
0.00007
|
|
NM_003849.4(SUCLG1):c.319-8T>C
|
rs370790297
|
0.00007
|
|
NM_004004.6(GJB2):c.24G>A (p.Thr8=)
|
rs533231493
|
0.00007
|
|
NM_004006.3(DMD):c.10846A>G (p.Thr3616Ala)
|
rs368996545
|
0.00007
|
|
NM_004006.3(DMD):c.1704+3G>A
|
rs773123973
|
0.00007
|
|
NM_004006.3(DMD):c.2988A>G (p.Leu996=)
|
rs148835707
|
0.00007
|
|
NM_004006.3(DMD):c.3450G>A (p.Glu1150=)
|
rs142967431
|
0.00007
|
|
NM_004006.3(DMD):c.3892G>A (p.Gly1298Arg)
|
rs750349613
|
0.00007
|
|
NM_004006.3(DMD):c.4721G>A (p.Arg1574His)
|
rs755206033
|
0.00007
|
|
NM_004006.3(DMD):c.863G>C (p.Arg288Thr)
|
rs767304770
|
0.00007
|
|
NM_004006.3(DMD):c.9093C>T (p.Val3031=)
|
rs72466563
|
0.00007
|
|
NM_004006.3(DMD):c.9325G>T (p.Ala3109Ser)
|
rs201718067
|
0.00007
|
|
NM_004035.7(ACOX1):c.667G>A (p.Val223Ile)
|
rs143260706
|
0.00007
|
|
NM_004082.5(DCTN1):c.2278A>G (p.Met760Val)
|
rs754780894
|
0.00007
|
|
NM_004183.4(BEST1):c.1271G>C (p.Gly424Ala)
|
rs201210799
|
0.00007
|
|
NM_004281.4(BAG3):c.470C>T (p.Ala157Val)
|
rs541080567
|
0.00007
|
|
NM_004281.4(BAG3):c.827G>A (p.Arg276Gln)
|
rs372970842
|
0.00007
|
|
NM_004281.4(BAG3):c.892G>A (p.Val298Met)
|
rs150048651
|
0.00007
|
|
NM_004304.5(ALK):c.3182G>A (p.Arg1061Gln)
|
rs72852032
|
0.00007
|
|
NM_004329.3(BMPR1A):c.478A>G (p.Met160Val)
|
rs145101532
|
0.00007
|
|
NM_004329.3(BMPR1A):c.499A>G (p.Met167Val)
|
rs200951235
|
0.00007
|
|
NM_004360.5(CDH1):c.1289T>G (p.Val430Gly)
|
rs730881665
|
0.00007
|
|
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn)
|
rs199886166
|
0.00007
|
|
NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly)
|
rs376097289
|
0.00007
|
|
NM_004360.5(CDH1):c.854C>T (p.Thr285Ile)
|
rs587781634
|
0.00007
|
|
NM_004369.4(COL6A3):c.1977C>T (p.Arg659=)
|
rs141280228
|
0.00007
|
|
NM_004370.6(COL12A1):c.5483C>T (p.Pro1828Leu)
|
rs373011926
|
0.00007
|
|
NM_004370.6(COL12A1):c.8420G>A (p.Arg2807His)
|
rs186328815
|
0.00007
|
|
NM_004380.3(CREBBP):c.1732C>T (p.Pro578Ser)
|
rs148023511
|
0.00007
|
|
NM_004380.3(CREBBP):c.3982+10G>A
|
rs370093745
|
0.00007
|
|
NM_004393.6(DAG1):c.183T>C (p.Val61=)
|
rs775928044
|
0.00007
|
|
NM_004415.4(DSP):c.3102C>T (p.Ile1034=)
|
rs569974617
|
0.00007
|
|
NM_004415.4(DSP):c.4943A>G (p.Gln1648Arg)
|
rs202232360
|
0.00007
|
|
NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg)
|
rs139673146
|
0.00007
|
|
NM_004444.5(EPHB4):c.1373G>A (p.Arg458Gln)
|
rs542863867
|
0.00007
|
|
NM_004519.4(KCNQ3):c.2144A>G (p.His715Arg)
|
rs112314858
|
0.00007
|
|
NM_004519.4(KCNQ3):c.2338C>T (p.Arg780Cys)
|
rs138852641
|
0.00007
|
|
NM_004525.3(LRP2):c.1425C>T (p.Asp475=)
|
rs186484839
|
0.00007
|
|
NM_004560.4(ROR2):c.1448G>A (p.Arg483Gln)
|
rs767474960
|
0.00007
|
|
NM_004560.4(ROR2):c.2628G>A (p.Thr876=)
|
rs369201767
|
0.00007
|
|
NM_004560.4(ROR2):c.935G>A (p.Arg312His)
|
rs188376581
|
0.00007
|
|
NM_004565.3(PEX14):c.1013A>G (p.Asp338Gly)
|
rs201120958
|
0.00007
|
|
NM_004656.4(BAP1):c.1749G>A (p.Ser583=)
|
rs147775249
|
0.00007
|
|
NM_004736.4(XPR1):c.1975C>T (p.Arg659Trp)
|
rs200954931
|
0.00007
|
|
NM_004793.4(LONP1):c.2853G>C (p.Gln951His)
|
rs370434508
|
0.00007
|
|
NM_004817.4(TJP2):c.2034C>T (p.Asn678=)
|
rs373160031
|
0.00007
|
|
NM_004817.4(TJP2):c.212C>T (p.Pro71Leu)
|
rs142847960
|
0.00007
|
|
NM_004990.4(MARS1):c.734A>G (p.Glu245Gly)
|
rs778753999
|
0.00007
|
|
NM_005045.4(RELN):c.10310T>C (p.Met3437Thr)
|
rs377638585
|
0.00007
|
|
NM_005076.5(CNTN2):c.1216G>A (p.Ala406Thr)
|
rs752262787
|
0.00007
|
|
NM_005157.6(ABL1):c.2350C>G (p.Pro784Ala)
|
rs201376463
|
0.00007
|
|
NM_005198.5(CHKB):c.219C>T (p.Pro73=)
|
rs751273046
|
0.00007
|
|
NM_005199.5(CHRNG):c.130G>A (p.Ala44Thr)
|
rs186589083
|
0.00007
|
|
NM_005219.5(DIAPH1):c.1700C>T (p.Ala567Val)
|
rs752510907
|
0.00007
|
|
NM_005235.3(ERBB4):c.1571G>A (p.Arg524His)
|
rs371593463
|
0.00007
|
|
NM_005422.4(TECTA):c.2967C>A (p.His989Gln)
|
rs200821009
|
0.00007
|
|
NM_005422.4(TECTA):c.4481T>C (p.Val1494Ala)
|
rs200544452
|
0.00007
|
|
NM_005445.4(SMC3):c.2493T>C (p.Tyr831=)
|
rs112525060
|
0.00007
|
|
NM_005472.5(KCNE3):c.296G>A (p.Arg99His)
|
rs121908441
|
0.00007
|
|
NM_005477.3(HCN4):c.1243G>A (p.Val415Met)
|
rs201978086
|
0.00007
|
|
NM_005502.4(ABCA1):c.4037G>A (p.Gly1346Glu)
|
rs762770081
|
0.00007
|
|
NM_005529.7(HSPG2):c.13098C>T (p.Pro4366=)
|
rs759562639
|
0.00007
|
|
NM_005535.3(IL12RB1):c.701-6T>C
|
rs374699716
|
0.00007
|
|
NM_005546.4(ITK):c.139-6C>T
|
rs780173849
|
0.00007
|
|
NM_005559.4(LAMA1):c.7897G>A (p.Gly2633Arg)
|
rs769644598
|
0.00007
|
|
NM_005609.4(PYGM):c.2182A>G (p.Asn728Asp)
|
rs200058475
|
0.00007
|
|
NM_005633.4(SOS1):c.1829T>C (p.Ile610Thr)
|
rs776146535
|
0.00007
|
|
NM_005633.4(SOS1):c.3269C>T (p.Pro1090Leu)
|
rs730881034
|
0.00007
|
|
NM_005633.4(SOS1):c.3729C>G (p.Asp1243Glu)
|
rs730881026
|
0.00007
|
|
NM_005732.4(RAD50):c.1911T>A (p.Asp637Glu)
|
rs144749616
|
0.00007
|
|
NM_005751.5(AKAP9):c.5284A>G (p.Lys1762Glu)
|
rs568626378
|
0.00007
|
|
NM_006005.3(WFS1):c.2119G>A (p.Val707Ile)
|
rs71524377
|
0.00007
|
|
NM_006005.3(WFS1):c.343G>A (p.Gly115Ser)
|
rs780727054
|
0.00007
|
|
NM_006005.3(WFS1):c.726C>T (p.Ile242=)
|
rs71524381
|
0.00007
|
|
NM_006005.3(WFS1):c.792C>G (p.Phe264Leu)
|
rs373669861
|
0.00007
|
|
NM_006019.4(TCIRG1):c.1195C>T (p.Leu399=)
|
rs151180675
|
0.00007
|
|
NM_006019.4(TCIRG1):c.1278A>G (p.Arg426=)
|
rs138527421
|
0.00007
|
|
NM_006031.6(PCNT):c.1876G>A (p.Val626Ile)
|
rs201507947
|
0.00007
|
|
NM_006031.6(PCNT):c.3885T>C (p.Phe1295=)
|
rs755298136
|
0.00007
|
|
NM_006118.4(HAX1):c.160C>G (p.Pro54Ala)
|
rs139205111
|
0.00007
|
|
NM_006231.4(POLE):c.3230G>A (p.Arg1077His)
|
rs768950975
|
0.00007
|
|
NM_006231.4(POLE):c.5278G>A (p.Val1760Met)
|
rs373272795
|
0.00007
|
|
NM_006329.4(FBLN5):c.224T>C (p.Val75Ala)
|
rs145108467
|
0.00007
|
|
NM_006397.3(RNASEH2A):c.402C>T (p.Asn134=)
|
rs778120777
|
0.00007
|
|
NM_006493.4(CLN5):c.642A>T (p.Val214=)
|
rs751496223
|
0.00007
|
|
NM_006514.4(SCN10A):c.3340T>C (p.Cys1114Arg)
|
rs771127702
|
0.00007
|
|
NM_006516.4(SLC2A1):c.258C>T (p.Phe86=)
|
rs147319894
|
0.00007
|
|
NM_006662.3(SRCAP):c.2892G>A (p.Leu964=)
|
rs556745550
|
0.00007
|
|
NM_006757.4(TNNT3):c.635T>C (p.Ile212Thr)
|
rs373807514
|
0.00007
|
|
NM_006772.3(SYNGAP1):c.2583G>A (p.Ser861=)
|
rs375587730
|
0.00007
|
|
NM_006892.4(DNMT3B):c.720C>T (p.Pro240=)
|
rs200921151
|
0.00007
|
|
NM_006946.4(SPTBN2):c.1457C>A (p.Ala486Asp)
|
rs763948508
|
0.00007
|
|
NM_006946.4(SPTBN2):c.1504A>G (p.Ile502Val)
|
rs751351000
|
0.00007
|
|
NM_006946.4(SPTBN2):c.3194G>A (p.Arg1065Gln)
|
rs753324919
|
0.00007
|
|
NM_006946.4(SPTBN2):c.5474C>T (p.Pro1825Leu)
|
rs140642213
|
0.00007
|
|
NM_006950.3(SYN1):c.506G>A (p.Arg169Gln)
|
rs775109362
|
0.00007
|
|
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His)
|
rs121908706
|
0.00007
|
|
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu)
|
rs201084748
|
0.00007
|
|
NM_007215.4(POLG2):c.328C>G (p.Leu110Val)
|
rs782703026
|
0.00007
|
|
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val)
|
rs56039126
|
0.00007
|
|
NM_007294.4(BRCA1):c.593+3G>A
|
rs80358013
|
0.00007
|
|
NM_007294.4(BRCA1):c.692C>T (p.Thr231Met)
|
rs80357001
|
0.00007
|
|
NM_012144.4(DNAI1):c.672A>G (p.Thr224=)
|
rs201101182
|
0.00007
|
|
NM_012210.4(TRIM32):c.238C>T (p.Leu80=)
|
rs760820148
|
0.00007
|
|
NM_012275.3(IL36RN):c.436A>G (p.Ile146Val)
|
rs202059991
|
0.00007
|
|
NM_013296.5(GPSM2):c.1440+4C>T
|
rs557163760
|
0.00007
|
|
NM_013296.5(GPSM2):c.57-10A>G
|
rs184863735
|
0.00007
|
|
NM_014000.3(VCL):c.2802C>T (p.Ala934=)
|
rs372381809
|
0.00007
|
|
NM_014141.6(CNTNAP2):c.645C>T (p.Asn215=)
|
rs776956365
|
0.00007
|
|
NM_014244.5(ADAMTS2):c.2292C>T (p.Ala764=)
|
rs188566209
|
0.00007
|
|
NM_014244.5(ADAMTS2):c.260G>T (p.Arg87Leu)
|
rs150047440
|
0.00007
|
|
NM_014244.5(ADAMTS2):c.2860G>A (p.Val954Met)
|
rs368363548
|
0.00007
|
|
NM_014244.5(ADAMTS2):c.2970C>T (p.Thr990=)
|
rs769689633
|
0.00007
|
|
NM_014297.5(ETHE1):c.375+7T>C
|
rs752466453
|
0.00007
|
|
NM_014297.5(ETHE1):c.535C>T (p.His179Tyr)
|
rs370182416
|
0.00007
|
|
NM_014339.7(IL17RA):c.1475G>A (p.Arg492Lys)
|
rs770597137
|
0.00007
|
|
NM_014363.6(SACS):c.10909A>G (p.Met3637Val)
|
rs150309559
|
0.00007
|
|
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln)
|
rs148925505
|
0.00007
|
|
NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys)
|
rs375805688
|
0.00007
|
|
NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu)
|
rs370095300
|
0.00007
|
|
NM_014391.3(ANKRD1):c.820T>C (p.Tyr274His)
|
rs377074932
|
0.00007
|
|
NM_014467.3(SRPX2):c.248T>C (p.Leu83Pro)
|
rs141168255
|
0.00007
|
|
NM_014629.4(ARHGEF10):c.3274G>A (p.Val1092Met)
|
rs527488398
|
0.00007
|
|
NM_014714.4(IFT140):c.1010-10C>T
|
rs376722338
|
0.00007
|
|
NM_014855.3(AP5Z1):c.1617G>C (p.Leu539=)
|
rs569601905
|
0.00007
|
|
NM_014915.3(ANKRD26):c.301G>A (p.Asp101Asn)
|
rs199753643
|
0.00007
|
|
NM_014915.3(ANKRD26):c.3286C>T (p.Arg1096Trp)
|
rs367849518
|
0.00007
|
|
NM_015102.5(NPHP4):c.2902G>A (p.Ala968Thr)
|
rs375090704
|
0.00007
|
|
NM_015192.4(PLCB1):c.3189-14C>T
|
rs777913912
|
0.00007
|
|
NM_015404.4(WHRN):c.2093T>A (p.Val698Glu)
|
rs201184915
|
0.00007
|
|
NM_015443.4(KANSL1):c.1157G>T (p.Ser386Ile)
|
rs143589497
|
0.00007
|
|
NM_015884.4(MBTPS2):c.706A>G (p.Ile236Val)
|
rs369520528
|
0.00007
|
|
NM_016219.5(MAN1B1):c.1065+11T>C
|
rs200147487
|
0.00007
|
|
NM_016239.4(MYO15A):c.2012G>A (p.Ser671Asn)
|
rs962124239
|
0.00007
|
|
NM_016239.4(MYO15A):c.4038+6_4038+7insTG
|
rs759039332
|
0.00007
|
|
NM_016239.4(MYO15A):c.9982A>C (p.Ser3328Arg)
|
rs376470294
|
0.00007
|
|
NM_017534.6(MYH2):c.3384C>T (p.Ile1128=)
|
rs139130605
|
0.00007
|
|
NM_017612.5(ZCCHC8):c.1847C>T (p.Pro616Leu)
|
rs748027224
|
0.00007
|
|
NM_017617.5(NOTCH1):c.3468C>T (p.Asn1156=)
|
rs199793164
|
0.00007
|
|
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met)
|
rs756972680
|
0.00007
|
|
NM_017617.5(NOTCH1):c.4927G>A (p.Ala1643Thr)
|
rs566680728
|
0.00007
|
|
NM_017617.5(NOTCH1):c.6583G>A (p.Gly2195Ser)
|
rs376422513
|
0.00007
|
|
NM_017636.4(TRPM4):c.2508C>T (p.Gly836=)
|
rs750999263
|
0.00007
|
|
NM_017636.4(TRPM4):c.2761G>A (p.Val921Ile)
|
rs377359117
|
0.00007
|
|
NM_017636.4(TRPM4):c.2779-5C>T
|
rs374639233
|
0.00007
|
|
NM_017636.4(TRPM4):c.483C>T (p.Gly161=)
|
rs147157308
|
0.00007
|
|
NM_017721.5(CC2D1A):c.498C>T (p.Tyr166=)
|
rs373022042
|
0.00007
|
|
NM_017777.4(MKS1):c.468C>T (p.Val156=)
|
rs199684837
|
0.00007
|
|
NM_017780.4(CHD7):c.8580C>T (p.Ser2860=)
|
rs767368987
|
0.00007
|
|
NM_017837.4(PIGV):c.1084A>C (p.Lys362Gln)
|
rs376257064
|
0.00007
|
|
NM_017946.4(FKBP14):c.350-5G>A
|
rs763069544
|
0.00007
|
|
NM_017950.4(CCDC40):c.660C>T (p.Phe220=)
|
rs200678214
|
0.00007
|
|
NM_018136.5(ASPM):c.6551G>A (p.Arg2184Gln)
|
rs200848981
|
0.00007
|
|
NM_018418.5(SPATA7):c.1216-4C>T
|
rs755958987
|
0.00007
|
|
NM_018451.5(CENPJ):c.3663G>A (p.Pro1221=)
|
rs200291056
|
0.00007
|
|
NM_018706.7(DHTKD1):c.718-5A>G
|
rs374421488
|
0.00007
|
|
NM_018896.5(CACNA1G):c.3010G>A (p.Asp1004Asn)
|
rs377336879
|
0.00007
|
|
NM_018965.4(TREM2):c.407G>A (p.Arg136Gln)
|
rs149622783
|
0.00007
|
|
NM_020247.5(COQ8A):c.1612C>T (p.Arg538Trp)
|
rs201331131
|
0.00007
|
|
NM_020347.4(LZTFL1):c.724A>G (p.Thr242Ala)
|
rs751968807
|
0.00007
|
|
NM_020549.5(CHAT):c.1345G>A (p.Val449Ile)
|
rs757733319
|
0.00007
|
|
NM_020686.6(ABAT):c.864C>T (p.Ala288=)
|
rs149855547
|
0.00007
|
|
NM_020745.4(AARS2):c.761G>C (p.Gly254Ala)
|
rs199919912
|
0.00007
|
|
NM_020778.5(ALPK3):c.3137G>A (p.Arg1046His)
|
rs184951836
|
0.00007
|
|
NM_020778.5(ALPK3):c.698C>T (p.Pro233Leu)
|
rs150785783
|
0.00007
|
|
NM_020975.6(RET):c.1702G>A (p.Gly568Ser)
|
rs140464432
|
0.00007
|
|
NM_020975.6(RET):c.1942G>A (p.Val648Ile)
|
rs77711105
|
0.00007
|
|
NM_021625.5(TRPV4):c.143C>T (p.Ser48Leu)
|
rs756185743
|
0.00007
|
|
NM_021625.5(TRPV4):c.2320C>T (p.Arg774Cys)
|
rs145102919
|
0.00007
|
|
NM_022089.4(ATP13A2):c.197G>A (p.Arg66His)
|
rs367745335
|
0.00007
|
|
NM_022089.4(ATP13A2):c.3193G>A (p.Val1065Met)
|
rs377431904
|
0.00007
|
|
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile)
|
rs181611778
|
0.00007
|
|
NM_022124.6(CDH23):c.996G>A (p.Thr332=)
|
rs727504715
|
0.00007
|
|
NM_022168.4(IFIH1):c.2919G>C (p.Val973=)
|
rs376116707
|
0.00007
|
|
NM_022356.4(P3H1):c.1626G>A (p.Thr542=)
|
rs577059613
|
0.00007
|
|
NM_022369.4(STRA6):c.366C>T (p.Asp122=)
|
rs147428518
|
0.00007
|
|
NM_022437.3(ABCG8):c.351G>A (p.Val117=)
|
rs41281459
|
0.00007
|
|
NM_022437.3(ABCG8):c.450C>T (p.His150=)
|
rs200013237
|
0.00007
|
|
NM_022455.5(NSD1):c.142A>G (p.Met48Val)
|
rs200735877
|
0.00007
|
|
NM_022489.4(INF2):c.1304C>T (p.Ala435Val)
|
rs777455096
|
0.00007
|
|
NM_022489.4(INF2):c.1588G>A (p.Val530Met)
|
rs369984449
|
0.00007
|
|
NM_022489.4(INF2):c.3082C>T (p.Arg1028Cys)
|
rs369987125
|
0.00007
|
|
NM_023036.6(DNAI2):c.134A>G (p.Asn45Ser)
|
rs148073122
|
0.00007
|
|
NM_024009.3(GJB3):c.340G>A (p.Ala114Thr)
|
rs199689484
|
0.00007
|
|
NM_024334.3(TMEM43):c.-4C>T
|
rs760598925
|
0.00007
|
|
NM_024642.5(GALNT12):c.608A>G (p.Asn203Ser)
|
rs375844934
|
0.00007
|
|
NM_024675.4(PALB2):c.2100A>T (p.Ser700=)
|
rs757145884
|
0.00007
|
|
NM_024675.4(PALB2):c.2200A>T (p.Thr734Ser)
|
rs45543843
|
0.00007
|
|
NM_024753.5(TTC21B):c.970T>G (p.Ser324Ala)
|
rs762885961
|
0.00007
|
|
NM_024757.5(EHMT1):c.2595C>T (p.Asp865=)
|
rs780742937
|
0.00007
|
|
NM_025000.4(DCAF17):c.1266+6G>A
|
rs557741620
|
0.00007
|
|
NM_025000.4(DCAF17):c.1422+14G>A
|
rs368707741
|
0.00007
|
|
NM_025009.5(CEP135):c.114C>T (p.Ser38=)
|
rs780365984
|
0.00007
|
|
NM_025009.5(CEP135):c.203T>C (p.Leu68Ser)
|
rs147697562
|
0.00007
|
|
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)
|
rs140236736
|
0.00007
|
|
NM_025137.4(SPG11):c.3038+14A>G
|
rs774593393
|
0.00007
|
|
NM_025137.4(SPG11):c.31G>C (p.Ala11Pro)
|
rs529316227
|
0.00007
|
|
NM_025137.4(SPG11):c.6410G>A (p.Arg2137Gln)
|
rs200283964
|
0.00007
|
|
NM_025193.4(HSD3B7):c.1047G>C (p.Ser349=)
|
rs746926891
|
0.00007
|
|
NM_025243.4(SLC19A3):c.481T>C (p.Leu161=)
|
rs375099581
|
0.00007
|
|
NM_030665.4(RAI1):c.1499C>T (p.Pro500Leu)
|
rs775231187
|
0.00007
|
|
NM_030665.4(RAI1):c.3158C>T (p.Pro1053Leu)
|
rs748386061
|
0.00007
|
|
NM_031844.3(HNRNPU):c.1274G>C (p.Gly425Ala)
|
rs199596170
|
0.00007
|
|
NM_032119.4(ADGRV1):c.10342G>A (p.Val3448Met)
|
rs199715642
|
0.00007
|
|
NM_032119.4(ADGRV1):c.11339G>A (p.Arg3780His)
|
rs375613551
|
0.00007
|
|
NM_032119.4(ADGRV1):c.1374T>A (p.Phe458Leu)
|
rs373868639
|
0.00007
|
|
NM_032119.4(ADGRV1):c.2991T>C (p.Ile997=)
|
rs570773279
|
0.00007
|
|
NM_032119.4(ADGRV1):c.3955C>T (p.Arg1319Trp)
|
rs372789540
|
0.00007
|
|
NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met)
|
rs756414393
|
0.00007
|
|
NM_032119.4(ADGRV1):c.6684T>A (p.Ser2228=)
|
rs373667458
|
0.00007
|
|
NM_032119.4(ADGRV1):c.9466A>G (p.Ile3156Val)
|
rs372484022
|
0.00007
|
|
NM_032237.5(POMK):c.1024A>G (p.Met342Val)
|
rs762404960
|
0.00007
|
|
NM_032380.5(GFM2):c.1196T>C (p.Ile399Thr)
|
rs143233751
|
0.00007
|
|
NM_032383.5(HPS3):c.1773G>A (p.Thr591=)
|
rs559550536
|
0.00007
|
|
NM_032520.5(GNPTG):c.394C>T (p.Arg132Trp)
|
rs200741370
|
0.00007
|
|
NM_032578.4(MYPN):c.140C>T (p.Pro47Leu)
|
rs777446804
|
0.00007
|
|
NM_032578.4(MYPN):c.3103A>G (p.Met1035Val)
|
rs201975081
|
0.00007
|
|
NM_033026.6(PCLO):c.7868T>G (p.Val2623Gly)
|
rs776949129
|
0.00007
|
|
NM_033100.4(CDHR1):c.1554-3C>A
|
rs377416569
|
0.00007
|
|
NM_033380.3(COL4A5):c.3403A>G (p.Ile1135Val)
|
rs747614562
|
0.00007
|
|
NM_052867.4(NALCN):c.5098G>A (p.Val1700Met)
|
rs761894809
|
0.00007
|
|
NM_052872.4(IL17F):c.243C>G (p.Pro81=)
|
rs769617558
|
0.00007
|
|
NM_053025.4(MYLK):c.1651+7T>C
|
rs758327487
|
0.00007
|
|
NM_053025.4(MYLK):c.2120A>G (p.Gln707Arg)
|
rs201615936
|
0.00007
|
|
NM_053025.4(MYLK):c.601C>T (p.Leu201=)
|
rs773082759
|
0.00007
|
|
NM_054012.4(ASS1):c.174+10G>A
|
rs371597908
|
0.00007
|
|
NM_080424.4(SP110):c.237T>G (p.Ser79=)
|
rs202135641
|
0.00007
|
|
NM_080605.4(B3GALT6):c.753G>A (p.Pro251=)
|
rs370328225
|
0.00007
|
|
NM_080680.3(COL11A2):c.142C>T (p.Arg48Trp)
|
rs151140273
|
0.00007
|
|
NM_080680.3(COL11A2):c.2327G>A (p.Arg776His)
|
rs748159740
|
0.00007
|
|
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=)
|
rs147576338
|
0.00007
|
|
NM_130839.5(UBE3A):c.2096A>C (p.Lys699Thr)
|
rs202161423
|
0.00007
|
|
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=)
|
rs142855690
|
0.00007
|
|
NM_138694.4(PKHD1):c.3629-15G>A
|
rs375870003
|
0.00007
|
|
NM_138694.4(PKHD1):c.711A>T (p.Ser237=)
|
rs138184195
|
0.00007
|
|
NM_138694.4(PKHD1):c.8440+10G>C
|
rs376658460
|
0.00007
|
|
NM_138927.4(SON):c.1414C>T (p.Pro472Ser)
|
rs767649909
|
0.00007
|
|
NM_139076.3(ABRAXAS1):c.178+9T>C
|
rs367733190
|
0.00007
|
|
NM_139319.3(SLC17A8):c.1396C>A (p.Leu466Ile)
|
rs201180712
|
0.00007
|
|
NM_144997.7(FLCN):c.552C>A (p.Asn184Lys)
|
rs143525924
|
0.00007
|
|
NM_145200.5(CABP4):c.579G>A (p.Leu193=)
|
rs139392451
|
0.00007
|
|
NM_152383.5(DIS3L2):c.1908C>T (p.Ser636=)
|
rs778830625
|
0.00007
|
|
NM_152383.5(DIS3L2):c.2067C>T (p.Tyr689=)
|
rs186340144
|
0.00007
|
|
NM_152443.3(RDH12):c.806C>G (p.Ala269Gly)
|
rs116802390
|
0.00007
|
|
NM_152703.5(SAMD9L):c.4368T>A (p.Asn1456Lys)
|
rs144026608
|
0.00007
|
|
NM_153816.6(SNX14):c.140+4A>G
|
rs755139303
|
0.00007
|
|
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile)
|
rs267607606
|
0.00007
|
|
NM_170707.4(LMNA):c.1530C>T (p.Thr510=)
|
rs138098342
|
0.00007
|
|
NM_173648.4(CCDC141):c.1225C>T (p.Gln409Ter)
|
rs143025382
|
0.00007
|
|
NM_173689.7(CRB2):c.2116C>T (p.Arg706Trp)
|
rs575676072
|
0.00007
|
|
NM_174936.4(PCSK9):c.1206C>T (p.Ala402=)
|
rs200091654
|
0.00007
|
|
NM_174936.4(PCSK9):c.799+8A>G
|
rs748933873
|
0.00007
|
|
NM_175914.5(HNF4A):c.569C>T (p.Pro190Leu)
|
rs201749293
|
0.00007
|
|
NM_177438.3(DICER1):c.4050+8A>G
|
rs746668314
|
0.00007
|
|
NM_177438.3(DICER1):c.5276A>G (p.Lys1759Arg)
|
rs144259142
|
0.00007
|
|
NM_181303.2(NLGN3):c.282G>A (p.Ser94=)
|
rs143817848
|
0.00007
|
|
NM_182914.3(SYNE2):c.14486G>A (p.Cys4829Tyr)
|
rs200997641
|
0.00007
|
|
NM_182914.3(SYNE2):c.20702C>A (p.Thr6901Asn)
|
rs760936547
|
0.00007
|
|
NM_182961.4(SYNE1):c.15175C>T (p.Leu5059=)
|
rs763930147
|
0.00007
|
|
NM_182961.4(SYNE1):c.17347-6C>T
|
rs201692248
|
0.00007
|
|
NM_182961.4(SYNE1):c.18213G>A (p.Lys6071=)
|
rs942245024
|
0.00007
|
|
NM_182961.4(SYNE1):c.20200-3T>C
|
rs770710698
|
0.00007
|
|
NM_182961.4(SYNE1):c.22038A>G (p.Ser7346=)
|
rs201392317
|
0.00007
|
|
NM_182961.4(SYNE1):c.24348G>A (p.Ala8116=)
|
rs371204427
|
0.00007
|
|
NM_182961.4(SYNE1):c.2448G>A (p.Pro816=)
|
rs375111758
|
0.00007
|
|
NM_182961.4(SYNE1):c.2991G>A (p.Leu997=)
|
rs1014746277
|
0.00007
|
|
NM_182961.4(SYNE1):c.3934G>A (p.Glu1312Lys)
|
rs200276242
|
0.00007
|
|
NM_182961.4(SYNE1):c.4377C>T (p.Ser1459=)
|
rs146567226
|
0.00007
|
|
NM_194248.3(OTOF):c.2516C>T (p.Ala839Val)
|
rs201246660
|
0.00007
|
|
NM_198076.6(COX20):c.92G>A (p.Arg31Gln)
|
rs764620077
|
0.00007
|
|
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys)
|
rs553968087
|
0.00007
|
|
NM_198904.4(GABRG2):c.135C>T (p.Asp45=)
|
rs375308385
|
0.00007
|
|
NM_198994.3(TGM6):c.1102C>T (p.Arg368Trp)
|
rs201326247
|
0.00007
|
|
NM_198999.3(SLC26A5):c.1849C>T (p.Pro617Ser)
|
rs144150940
|
0.00007
|
|
NM_199242.3(UNC13D):c.2241C>T (p.Ser747=)
|
rs372453702
|
0.00007
|
|
NM_199242.3(UNC13D):c.273G>A (p.Val91=)
|
rs149494974
|
0.00007
|
|
NM_201384.3(PLEC):c.12255C>T (p.Asp4085=)
|
rs782193445
|
0.00007
|
|
NM_201384.3(PLEC):c.12985C>T (p.Arg4329Cys)
|
rs375593618
|
0.00007
|
|
NM_201384.3(PLEC):c.13581C>T (p.Tyr4527=)
|
rs562934299
|
0.00007
|
|
NM_201384.3(PLEC):c.2178+10G>A
|
rs781817693
|
0.00007
|
|
NM_201384.3(PLEC):c.5507C>T (p.Ala1836Val)
|
rs782216341
|
0.00007
|
|
NM_201384.3(PLEC):c.6222C>T (p.Ser2074=)
|
rs370347438
|
0.00007
|
|
NM_201384.3(PLEC):c.8481C>T (p.Asp2827=)
|
rs377660488
|
0.00007
|
|
NM_201384.3(PLEC):c.8617G>A (p.Glu2873Lys)
|
rs377748878
|
0.00007
|
|
NM_201384.3(PLEC):c.9896G>A (p.Arg3299Gln)
|
rs368318946
|
0.00007
|
|
NM_206933.4(USH2A):c.3043C>T (p.His1015Tyr)
|
rs142302070
|
0.00007
|
|
NM_206933.4(USH2A):c.3861A>G (p.Lys1287=)
|
rs750789180
|
0.00007
|
|
NM_206933.4(USH2A):c.8137G>T (p.Ala2713Ser)
|
rs199934541
|
0.00007
|
|
NM_207346.3(TSEN54):c.468+8C>T
|
rs117456384
|
0.00007
|
|
NM_213720.3(CHCHD10):c.274G>A (p.Ala92Thr)
|
rs374353973
|
0.00007
|
|
NM_000016.6(ACADM):c.582C>T (p.Asn194=)
|
rs778535261
|
0.00006
|
|
NM_000017.4(ACADS):c.624+11C>T
|
rs763811046
|
0.00006
|
|
NM_000018.4(ACADVL):c.62+18G>A
|
rs780776419
|
0.00006
|
|
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=)
|
rs367713788
|
0.00006
|
|
NM_000019.4(ACAT1):c.891G>A (p.Thr297=)
|
rs372169445
|
0.00006
|
|
NM_000022.4(ADA):c.375C>G (p.Thr125=)
|
rs766539394
|
0.00006
|
|
NM_000022.4(ADA):c.927G>A (p.Gln309=)
|
rs139871719
|
0.00006
|
|
NM_000023.4(SGCA):c.62C>T (p.Thr21Ile)
|
rs199804735
|
0.00006
|
|
NM_000023.4(SGCA):c.657C>T (p.His219=)
|
rs747684069
|
0.00006
|
|
NM_000027.4(AGA):c.623-13T>G
|
rs778434616
|
0.00006
|
|
NM_000032.5(ALAS2):c.577G>A (p.Val193Ile)
|
rs772482624
|
0.00006
|
|
NM_000033.4(ABCD1):c.100C>T (p.Pro34Ser)
|
rs375019683
|
0.00006
|
|
NM_000033.4(ABCD1):c.2087A>T (p.Lys696Met)
|
rs782157913
|
0.00006
|
|
NM_000035.4(ALDOB):c.1000-3T>C
|
rs369238799
|
0.00006
|
|
NM_000035.4(ALDOB):c.849C>T (p.Asn283=)
|
rs202062631
|
0.00006
|
|
NM_000037.4(ANK1):c.4105-5T>G
|
rs768183148
|
0.00006
|
|
NM_000038.6(APC):c.1193A>G (p.Lys398Arg)
|
rs145912662
|
0.00006
|
|
NM_000038.6(APC):c.2110G>A (p.Val704Ile)
|
rs367804502
|
0.00006
|
|
NM_000038.6(APC):c.2250A>T (p.Pro750=)
|
rs376526724
|
0.00006
|
|
NM_000038.6(APC):c.2527A>G (p.Ser843Gly)
|
rs536223189
|
0.00006
|
|
NM_000038.6(APC):c.2719G>C (p.Gly907Arg)
|
rs771458366
|
0.00006
|
|
NM_000038.6(APC):c.3632T>G (p.Met1211Arg)
|
rs575268622
|
0.00006
|
|
NM_000038.6(APC):c.4072G>A (p.Ala1358Thr)
|
rs139618756
|
0.00006
|
|
NM_000038.6(APC):c.4249A>C (p.Ile1417Leu)
|
rs200166878
|
0.00006
|
|
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly)
|
rs370560998
|
0.00006
|
|
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn)
|
rs148275069
|
0.00006
|
|
NM_000038.6(APC):c.5216A>G (p.Lys1739Arg)
|
rs769558291
|
0.00006
|
|
NM_000038.6(APC):c.5774C>A (p.Pro1925His)
|
rs762682111
|
0.00006
|
|
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr)
|
rs372305287
|
0.00006
|
|
NM_000038.6(APC):c.7468G>A (p.Asp2490Asn)
|
rs538230198
|
0.00006
|
|
NM_000038.6(APC):c.7574G>A (p.Arg2525His)
|
rs762034315
|
0.00006
|
|
NM_000038.6(APC):c.7888G>A (p.Val2630Ile)
|
rs199688874
|
0.00006
|
|
NM_000038.6(APC):c.7929A>G (p.Leu2643=)
|
rs138796072
|
0.00006
|
|
NM_000038.6(APC):c.8107A>G (p.Lys2703Glu)
|
rs730881270
|
0.00006
|
|
NM_000038.6(APC):c.8332G>T (p.Ala2778Ser)
|
rs587778046
|
0.00006
|
|
NM_000048.4(ASL):c.401G>A (p.Gly134Asp)
|
rs201352504
|
0.00006
|
|
NM_000051.4(ATM):c.1010G>A (p.Arg337His)
|
rs202160435
|
0.00006
|
|
NM_000051.4(ATM):c.2804C>T (p.Thr935Met)
|
rs3218708
|
0.00006
|
|
NM_000051.4(ATM):c.3577-13T>C
|
rs587780856
|
0.00006
|
|
NM_000051.4(ATM):c.3588A>G (p.Lys1196=)
|
rs376524625
|
0.00006
|
|
NM_000051.4(ATM):c.3614G>A (p.Arg1205His)
|
rs769106895
|
0.00006
|
|
NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser)
|
rs587782195
|
0.00006
|
|
NM_000051.4(ATM):c.5352C>T (p.Asn1784=)
|
rs140641762
|
0.00006
|
|
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)
|
rs147915571
|
0.00006
|
|
NM_000051.4(ATM):c.6443A>G (p.Lys2148Arg)
|
rs730881382
|
0.00006
|
|
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu)
|
rs139379666
|
0.00006
|
|
NM_000051.4(ATM):c.946T>C (p.Tyr316His)
|
rs142317485
|
0.00006
|
|
NM_000052.7(ATP7A):c.3632G>A (p.Arg1211Gln)
|
rs782166627
|
0.00006
|
|
NM_000052.7(ATP7A):c.824A>G (p.Asn275Ser)
|
rs368147403
|
0.00006
|
|
NM_000053.4(ATP7B):c.1351G>A (p.Gly451Ser)
|
rs186300062
|
0.00006
|
|
NM_000053.4(ATP7B):c.2190C>T (p.Asp730=)
|
rs550565277
|
0.00006
|
|
NM_000053.4(ATP7B):c.3160A>C (p.Arg1054=)
|
rs377586515
|
0.00006
|
|
NM_000053.4(ATP7B):c.325C>T (p.Leu109=)
|
rs751920801
|
0.00006
|
|
NM_000053.4(ATP7B):c.4022-19C>T
|
rs369736734
|
0.00006
|
|
NM_000053.4(ATP7B):c.4251A>G (p.Thr1417=)
|
rs546721020
|
0.00006
|
|
NM_000053.4(ATP7B):c.496C>T (p.Arg166Trp)
|
rs755476114
|
0.00006
|
|
NM_000057.4(BLM):c.1044G>A (p.Met348Ile)
|
rs184657475
|
0.00006
|
|
NM_000057.4(BLM):c.2475G>A (p.Pro825=)
|
rs147587050
|
0.00006
|
|
NM_000057.4(BLM):c.2898C>G (p.Leu966=)
|
rs201220226
|
0.00006
|
|
NM_000057.4(BLM):c.3934G>A (p.Ala1312Thr)
|
rs527291754
|
0.00006
|
|
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=)
|
rs41293473
|
0.00006
|
|
NM_000059.4(BRCA2):c.1021T>C (p.Cys341Arg)
|
rs55833327
|
0.00006
|
|
NM_000059.4(BRCA2):c.1096T>G (p.Leu366Val)
|
rs587779357
|
0.00006
|
|
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp)
|
rs80358451
|
0.00006
|
|
NM_000059.4(BRCA2):c.2025A>G (p.Thr675=)
|
rs147381487
|
0.00006
|
|
NM_000059.4(BRCA2):c.2213G>A (p.Cys738Tyr)
|
rs1219265131
|
0.00006
|
|
NM_000059.4(BRCA2):c.2320A>G (p.Thr774Ala)
|
rs55968715
|
0.00006
|
|
NM_000059.4(BRCA2):c.2957A>G (p.Asn986Ser)
|
rs28897718
|
0.00006
|
|
NM_000059.4(BRCA2):c.3073A>G (p.Lys1025Glu)
|
rs80358550
|
0.00006
|
|
NM_000059.4(BRCA2):c.3715A>G (p.Lys1239Glu)
|
rs374191973
|
0.00006
|
|
NM_000059.4(BRCA2):c.4828G>A (p.Val1610Met)
|
rs80358705
|
0.00006
|
|
NM_000059.4(BRCA2):c.4915G>A (p.Val1639Ile)
|
rs80358716
|
0.00006
|
|
NM_000059.4(BRCA2):c.5498A>G (p.Asn1833Ser)
|
rs587782601
|
0.00006
|
|
NM_000059.4(BRCA2):c.6215C>G (p.Ser2072Cys)
|
rs80358862
|
0.00006
|
|
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile)
|
rs79456940
|
0.00006
|
|
NM_000059.4(BRCA2):c.6541G>C (p.Gly2181Arg)
|
rs371067421
|
0.00006
|
|
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr)
|
rs80358930
|
0.00006
|
|
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg)
|
rs80358935
|
0.00006
|
|
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys)
|
rs28897705
|
0.00006
|
|
NM_000059.4(BRCA2):c.8662C>T (p.Arg2888Cys)
|
rs80359123
|
0.00006
|
|
NM_000059.4(BRCA2):c.9454G>A (p.Glu3152Lys)
|
rs80359218
|
0.00006
|
|
NM_000062.3(SERPING1):c.1045C>T (p.Leu349Phe)
|
rs141075266
|
0.00006
|
|
NM_000069.3(CACNA1S):c.1345A>G (p.Ile449Val)
|
rs369139165
|
0.00006
|
|
NM_000069.3(CACNA1S):c.1385G>A (p.Arg462His)
|
rs146696298
|
0.00006
|
|
NM_000069.3(CACNA1S):c.1904T>C (p.Met635Thr)
|
rs144590408
|
0.00006
|
|
NM_000069.3(CACNA1S):c.208G>A (p.Val70Met)
|
rs771706267
|
0.00006
|
|
NM_000069.3(CACNA1S):c.2630C>T (p.Ala877Val)
|
rs200646947
|
0.00006
|
|
NM_000069.3(CACNA1S):c.2729G>A (p.Arg910Lys)
|
rs375318710
|
0.00006
|
|
NM_000069.3(CACNA1S):c.2773A>G (p.Ile925Val)
|
rs138708497
|
0.00006
|
|
NM_000069.3(CACNA1S):c.3761G>A (p.Arg1254Gln)
|
rs530655602
|
0.00006
|
|
NM_000069.3(CACNA1S):c.4414C>T (p.Arg1472Cys)
|
rs201257304
|
0.00006
|
|
NM_000069.3(CACNA1S):c.4731C>G (p.Asp1577Glu)
|
rs202120583
|
0.00006
|
|
NM_000069.3(CACNA1S):c.4861G>A (p.Val1621Ile)
|
rs756066219
|
0.00006
|
|
NM_000070.3(CAPN3):c.1263G>A (p.Leu421=)
|
rs372450879
|
0.00006
|
|
NM_000070.3(CAPN3):c.1404C>T (p.Asp468=)
|
rs534326487
|
0.00006
|
|
NM_000070.3(CAPN3):c.1812C>T (p.Phe604=)
|
rs144383704
|
0.00006
|
|
NM_000070.3(CAPN3):c.329G>A (p.Arg110Gln)
|
rs188108732
|
0.00006
|
|
NM_000071.3(CBS):c.1161C>T (p.Ser387=)
|
rs149280976
|
0.00006
|
|
NM_000071.3(CBS):c.1425G>A (p.Pro475=)
|
rs147885808
|
0.00006
|
|
NM_000071.3(CBS):c.737-10C>T
|
rs546751042
|
0.00006
|
|
NM_000071.3(CBS):c.786G>A (p.Thr262=)
|
rs551782391
|
0.00006
|
|
NM_000071.3(CBS):c.954+7C>T
|
rs554429567
|
0.00006
|
|
NM_000080.4(CHRNE):c.1104C>T (p.Pro368=)
|
rs767374241
|
0.00006
|
|
NM_000081.4(LYST):c.3030A>G (p.Gly1010=)
|
rs751511204
|
0.00006
|
|
NM_000081.4(LYST):c.3834G>A (p.Leu1278=)
|
rs148542548
|
0.00006
|
|
NM_000081.4(LYST):c.4983G>A (p.Leu1661=)
|
rs1482156206
|
0.00006
|
|
NM_000081.4(LYST):c.5635-4A>G
|
rs754201076
|
0.00006
|
|
NM_000081.4(LYST):c.7911G>A (p.Thr2637=)
|
rs140229368
|
0.00006
|
|
NM_000088.4(COL1A1):c.2508C>T (p.Gly836=)
|
rs200620805
|
0.00006
|
|
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr)
|
rs148216434
|
0.00006
|
|
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His)
|
rs377278762
|
0.00006
|
|
NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile)
|
rs139619440
|
0.00006
|
|
NM_000090.4(COL3A1):c.3390C>T (p.Ile1130=)
|
rs148918486
|
0.00006
|
|
NM_000091.5(COL4A3):c.1256C>A (p.Ser419Tyr)
|
rs201031986
|
0.00006
|
|
NM_000091.5(COL4A3):c.513C>T (p.Gly171=)
|
rs199514043
|
0.00006
|
|
NM_000092.5(COL4A4):c.1129C>T (p.Arg377Cys)
|
rs555143841
|
0.00006
|
|
NM_000092.5(COL4A4):c.4151C>T (p.Ala1384Val)
|
rs199911379
|
0.00006
|
|
NM_000092.5(COL4A4):c.4945A>G (p.Ser1649Gly)
|
rs192411379
|
0.00006
|
|
NM_000092.5(COL4A4):c.8C>T (p.Ser3Phe)
|
rs201403066
|
0.00006
|
|
NM_000093.5(COL5A1):c.1831C>T (p.Arg611Trp)
|
rs147329970
|
0.00006
|
|
NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys)
|
rs761079177
|
0.00006
|
|
NM_000094.4(COL7A1):c.1325G>A (p.Arg442His)
|
rs146415546
|
0.00006
|
|
NM_000094.4(COL7A1):c.4287C>T (p.Pro1429=)
|
rs749814590
|
0.00006
|
|
NM_000094.4(COL7A1):c.447C>T (p.Asp149=)
|
rs372585819
|
0.00006
|
|
NM_000094.4(COL7A1):c.4560T>A (p.Pro1520=)
|
rs142686837
|
0.00006
|
|
NM_000094.4(COL7A1):c.4666A>G (p.Lys1556Glu)
|
rs777472432
|
0.00006
|
|
NM_000094.4(COL7A1):c.5368G>A (p.Ala1790Thr)
|
rs780506505
|
0.00006
|
|
NM_000094.4(COL7A1):c.5877C>T (p.Ile1959=)
|
rs779298653
|
0.00006
|
|
NM_000094.4(COL7A1):c.6398T>C (p.Val2133Ala)
|
rs372838887
|
0.00006
|
|
NM_000098.3(CPT2):c.1737C>T (p.Tyr579=)
|
rs957344521
|
0.00006
|
|
NM_000098.3(CPT2):c.614A>G (p.Tyr205Cys)
|
rs779525393
|
0.00006
|
|
NM_000098.3(CPT2):c.692G>A (p.Arg231Gln)
|
rs369369333
|
0.00006
|
|
NM_000098.3(CPT2):c.877A>G (p.Ser293Gly)
|
rs145237292
|
0.00006
|
|
NM_000102.4(CYP17A1):c.1524C>T (p.Thr508=)
|
rs145067399
|
0.00006
|
|
NM_000103.4(CYP19A1):c.336C>T (p.Tyr112=)
|
rs139905959
|
0.00006
|
|
NM_000108.5(DLD):c.508G>A (p.Gly170Ser)
|
rs567286177
|
0.00006
|
|
NM_000117.3(EMD):c.454C>T (p.Arg152Cys)
|
rs376456050
|
0.00006
|
|
NM_000130.5(F5):c.1106C>T (p.Ala369Val)
|
rs200934105
|
0.00006
|
|
NM_000130.5(F5):c.3442T>C (p.Ser1148Pro)
|
rs369276714
|
0.00006
|
|
NM_000135.4(FANCA):c.1734C>T (p.Tyr578=)
|
rs762647468
|
0.00006
|
|
NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr)
|
rs201212806
|
0.00006
|
|
NM_000135.4(FANCA):c.1806G>A (p.Ala602=)
|
rs550064744
|
0.00006
|
|
NM_000135.4(FANCA):c.2778+83C>T
|
rs750997715
|
0.00006
|
|
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln)
|
rs376523966
|
0.00006
|
|
NM_000135.4(FANCA):c.3962G>A (p.Arg1321His)
|
rs374649848
|
0.00006
|
|
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu)
|
rs145886270
|
0.00006
|
|
NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu)
|
rs201494304
|
0.00006
|
|
NM_000135.4(FANCA):c.4300G>A (p.Ala1434Thr)
|
rs374984587
|
0.00006
|
|
NM_000136.3(FANCC):c.609C>T (p.Leu203=)
|
rs567226063
|
0.00006
|
|
NM_000137.4(FAH):c.302A>G (p.Glu101Gly)
|
rs758347578
|
0.00006
|
|
NM_000138.5(FBN1):c.1316G>A (p.Arg439Gln)
|
rs568810058
|
0.00006
|
|
NM_000138.5(FBN1):c.1961-14T>C
|
rs373918202
|
0.00006
|
|
NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys)
|
rs201778577
|
0.00006
|
|
NM_000138.5(FBN1):c.3464-6C>T
|
rs375596551
|
0.00006
|
|
NM_000138.5(FBN1):c.4150A>G (p.Met1384Val)
|
rs775543440
|
0.00006
|
|
NM_000138.5(FBN1):c.5516A>T (p.Tyr1839Phe)
|
rs758725993
|
0.00006
|
|
NM_000138.5(FBN1):c.5672-15C>G
|
rs776163620
|
0.00006
|
|
NM_000138.5(FBN1):c.6164-3C>T
|
rs571365493
|
0.00006
|
|
NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys)
|
rs201361628
|
0.00006
|
|
NM_000138.5(FBN1):c.7204+7C>G
|
rs371763964
|
0.00006
|
|
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser)
|
rs756295016
|
0.00006
|
|
NM_000138.5(FBN1):c.7902C>T (p.Pro2634=)
|
rs138621371
|
0.00006
|
|
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser)
|
rs145105768
|
0.00006
|
|
NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser)
|
rs536503540
|
0.00006
|
|
NM_000138.5(FBN1):c.8310C>T (p.His2770=)
|
rs112189340
|
0.00006
|
|
NM_000138.5(FBN1):c.8311G>A (p.Val2771Ile)
|
rs193922244
|
0.00006
|
|
NM_000141.5(FGFR2):c.201C>T (p.Ala67=)
|
rs200386134
|
0.00006
|
|
NM_000142.5(FGFR3):c.1498G>A (p.Ala500Thr)
|
rs751635116
|
0.00006
|
|
NM_000142.5(FGFR3):c.1513G>A (p.Val505Ile)
|
rs144546453
|
0.00006
|
|
NM_000142.5(FGFR3):c.1733C>T (p.Ser578Phe)
|
rs989826317
|
0.00006
|
|
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu)
|
rs144995231
|
0.00006
|
|
NM_000142.5(FGFR3):c.885C>T (p.Gly295=)
|
rs375181682
|
0.00006
|
|
NM_000143.4(FH):c.12A>G (p.Ala4=)
|
rs201277370
|
0.00006
|
|
NM_000143.4(FH):c.35G>T (p.Arg12Leu)
|
rs367826177
|
0.00006
|
|
NM_000146.4(FTL):c.155T>G (p.Phe52Cys)
|
rs543242420
|
0.00006
|
|
NM_000151.4(G6PC1):c.18T>C (p.Asn6=)
|
rs144652516
|
0.00006
|
|
NM_000152.5(GAA):c.1143C>T (p.Thr381=)
|
rs111832449
|
0.00006
|
|
NM_000152.5(GAA):c.1195-15G>A
|
rs373840229
|
0.00006
|
|
NM_000152.5(GAA):c.1356C>T (p.Ala452=)
|
rs757893858
|
0.00006
|
|
NM_000152.5(GAA):c.1725C>T (p.Tyr575=)
|
rs112517802
|
0.00006
|
|
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln)
|
rs377126280
|
0.00006
|
|
NM_000152.5(GAA):c.197G>A (p.Arg66Gln)
|
rs200202628
|
0.00006
|
|
NM_000152.5(GAA):c.2800-11C>G
|
rs374571499
|
0.00006
|
|
NM_000152.5(GAA):c.318C>T (p.Arg106=)
|
rs762542246
|
0.00006
|
|
NM_000153.4(GALC):c.120C>T (p.Gly40=)
|
rs532800656
|
0.00006
|
|
NM_000153.4(GALC):c.18C>G (p.Leu6=)
|
rs886038260
|
0.00006
|
|
NM_000154.2(GALK1):c.165+6G>A
|
rs779996721
|
0.00006
|
|
NM_000155.4(GALT):c.1128A>T (p.Ala376=)
|
rs781374930
|
0.00006
|
|
NM_000155.4(GALT):c.211C>T (p.Leu71Phe)
|
rs143994870
|
0.00006
|
|
NM_000156.6(GAMT):c.670G>A (p.Ala224Thr)
|
rs141471799
|
0.00006
|
|
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys)
|
rs760661724
|
0.00006
|
|
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys)
|
rs202158511
|
0.00006
|
|
NM_000159.4(GCDH):c.885C>T (p.Tyr295=)
|
rs139192015
|
0.00006
|
|
NM_000170.3(GLDC):c.2028C>T (p.Ile676=)
|
rs372604935
|
0.00006
|
|
NM_000170.3(GLDC):c.258C>T (p.Ser86=)
|
rs562000292
|
0.00006
|
|
NM_000170.3(GLDC):c.632A>G (p.Tyr211Cys)
|
rs139931025
|
0.00006
|
|
NM_000170.3(GLDC):c.78G>C (p.Ser26=)
|
rs915226152
|
0.00006
|
|
NM_000179.3(MSH6):c.1019T>C (p.Phe340Ser)
|
rs61753793
|
0.00006
|
|
NM_000179.3(MSH6):c.1050C>T (p.Ala350=)
|
rs730881802
|
0.00006
|
|
NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys)
|
rs376243329
|
0.00006
|
|
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile)
|
rs376799914
|
0.00006
|
|
NM_000179.3(MSH6):c.3824G>A (p.Cys1275Tyr)
|
rs150990541
|
0.00006
|
|
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu)
|
rs199594809
|
0.00006
|
|
NM_000179.3(MSH6):c.643G>A (p.Val215Ile)
|
rs145959653
|
0.00006
|
|
NM_000179.3(MSH6):c.831A>C (p.Glu277Asp)
|
rs374486449
|
0.00006
|
|
NM_000179.3(MSH6):c.926C>G (p.Ser309Cys)
|
rs544222338
|
0.00006
|
|
NM_000186.4(CFH):c.2196G>A (p.Thr732=)
|
rs144325643
|
0.00006
|
|
NM_000186.4(CFH):c.3310+12T>C
|
rs757045842
|
0.00006
|
|
NM_000187.4(HGD):c.550-14G>C
|
rs769000073
|
0.00006
|
|
NM_000190.4(HMBS):c.26C>A (p.Ala9Glu)
|
rs148084355
|
0.00006
|
|
NM_000199.5(SGSH):c.1302G>A (p.Ala434=)
|
rs376787615
|
0.00006
|
|
NM_000199.5(SGSH):c.432C>T (p.Ser144=)
|
rs200194908
|
0.00006
|
|
NM_000203.5(IDUA):c.1800G>A (p.Ser600=)
|
rs763047621
|
0.00006
|
|
NM_000203.5(IDUA):c.981G>T (p.Ala327=)
|
rs372379342
|
0.00006
|
|
NM_000204.5(CFI):c.859G>A (p.Gly287Arg)
|
rs182078921
|
0.00006
|
|
NM_000208.4(INSR):c.3042C>T (p.Asp1014=)
|
rs369686949
|
0.00006
|
|
NM_000211.5(ITGB2):c.681C>T (p.Ser227=)
|
rs369981986
|
0.00006
|
|
NM_000211.5(ITGB2):c.768G>A (p.Thr256=)
|
rs201148219
|
0.00006
|
|
NM_000211.5(ITGB2):c.849C>T (p.Asp283=)
|
rs35013643
|
0.00006
|
|
NM_000213.5(ITGB4):c.2834G>A (p.Arg945Gln)
|
rs141953294
|
0.00006
|
|
NM_000214.3(JAG1):c.204C>T (p.Arg68=)
|
rs565407240
|
0.00006
|
|
NM_000214.3(JAG1):c.2298T>C (p.Phe766=)
|
rs771544217
|
0.00006
|
|
NM_000214.3(JAG1):c.2877G>A (p.Ala959=)
|
rs142085300
|
0.00006
|
|
NM_000214.3(JAG1):c.3153C>T (p.Ala1051=)
|
rs754593633
|
0.00006
|
|
NM_000214.3(JAG1):c.3343G>A (p.Val1115Met)
|
rs148373907
|
0.00006
|
|
NM_000215.4(JAK3):c.1184G>A (p.Arg395His)
|
rs143038064
|
0.00006
|
|
NM_000218.3(KCNQ1):c.1733-3T>C
|
rs372912362
|
0.00006
|
|
NM_000218.3(KCNQ1):c.1733-7C>G
|
rs367568223
|
0.00006
|
|
NM_000218.3(KCNQ1):c.225T>C (p.Val75=)
|
rs367817352
|
0.00006
|
|
NM_000222.3(KIT):c.910A>G (p.Thr304Ala)
|
rs202052259
|
0.00006
|
|
NM_000235.4(LIPA):c.618C>A (p.Val206=)
|
rs763651849
|
0.00006
|
|
NM_000238.4(KCNH2):c.2674C>T (p.Arg892Cys)
|
rs201627778
|
0.00006
|
|
NM_000238.4(KCNH2):c.2780G>T (p.Trp927Leu)
|
rs794728399
|
0.00006
|
|
NM_000238.4(KCNH2):c.3112G>A (p.Val1038Met)
|
rs199473544
|
0.00006
|
|
NM_000238.4(KCNH2):c.3153-13C>T
|
rs372337645
|
0.00006
|
|
NM_000243.3(MEFV):c.1610+8G>A
|
rs765410591
|
0.00006
|
|
NM_000243.3(MEFV):c.1759+7C>T
|
rs772667365
|
0.00006
|
|
NM_000243.3(MEFV):c.2049G>A (p.Ser683=)
|
rs104895092
|
0.00006
|
|
NM_000243.3(MEFV):c.549G>A (p.Pro183=)
|
rs587781035
|
0.00006
|
|
NM_000243.3(MEFV):c.866C>T (p.Ala289Val)
|
rs104895132
|
0.00006
|
|
NM_000246.4(CIITA):c.1006+12G>A
|
rs368964652
|
0.00006
|
|
NM_000246.4(CIITA):c.1944A>T (p.Ala648=)
|
rs778678693
|
0.00006
|
|
NM_000246.4(CIITA):c.2832G>A (p.Ser944=)
|
rs766538754
|
0.00006
|
|
NM_000246.4(CIITA):c.2979G>A (p.Ala993=)
|
rs142031278
|
0.00006
|
|
NM_000246.4(CIITA):c.3175G>A (p.Val1059Met)
|
rs200742204
|
0.00006
|
|
NM_000246.4(CIITA):c.384C>T (p.Ile128=)
|
rs140106499
|
0.00006
|
|
NM_000246.4(CIITA):c.772+5G>T
|
rs376221650
|
0.00006
|
|
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser)
|
rs63751467
|
0.00006
|
|
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg)
|
rs63750527
|
0.00006
|
|
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly)
|
rs63751612
|
0.00006
|
|
NM_000249.4(MLH1):c.2174G>A (p.Arg725His)
|
rs566928243
|
0.00006
|
|
NM_000249.4(MLH1):c.552A>T (p.Ser184=)
|
rs35225190
|
0.00006
|
|
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)
|
rs63750796
|
0.00006
|
|
NM_000251.3(MSH2):c.1077-7A>G
|
rs370807334
|
0.00006
|
|
NM_000251.3(MSH2):c.1321A>C (p.Thr441Pro)
|
rs587779086
|
0.00006
|
|
NM_000251.3(MSH2):c.2400A>G (p.Leu800=)
|
rs201298777
|
0.00006
|
|
NM_000251.3(MSH2):c.2503A>C (p.Asn835His)
|
rs41295296
|
0.00006
|
|
NM_000251.3(MSH2):c.2634+7C>G
|
rs905179122
|
0.00006
|
|
NM_000251.3(MSH2):c.382C>G (p.Leu128Val)
|
rs145649774
|
0.00006
|
|
NM_000251.3(MSH2):c.499G>C (p.Asp167His)
|
rs63750255
|
0.00006
|
|
NM_000251.3(MSH2):c.944G>T (p.Gly315Val)
|
rs202026056
|
0.00006
|
|
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys)
|
rs573916965
|
0.00006
|
|
NM_000256.3(MYBPC3):c.1309G>A (p.Val437Met)
|
rs730880535
|
0.00006
|
|
NM_000256.3(MYBPC3):c.2761C>G (p.Gln921Glu)
|
rs367729718
|
0.00006
|
|
NM_000256.3(MYBPC3):c.94G>A (p.Glu32Lys)
|
rs730880575
|
0.00006
|
|
NM_000257.4(MYH7):c.1000-7C>T
|
rs200129563
|
0.00006
|
|
NM_000257.4(MYH7):c.115G>A (p.Val39Met)
|
rs376160714
|
0.00006
|
|
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met)
|
rs121913653
|
0.00006
|
|
NM_000257.4(MYH7):c.2028T>C (p.Asn676=)
|
rs145564868
|
0.00006
|
|
NM_000257.4(MYH7):c.2360G>A (p.Arg787His)
|
rs376754645
|
0.00006
|
|
NM_000257.4(MYH7):c.4182C>T (p.Ala1394=)
|
rs765895405
|
0.00006
|
|
NM_000257.4(MYH7):c.714C>T (p.Asn238=)
|
rs202141819
|
0.00006
|
|
NM_000260.4(MYO7A):c.3503+9C>T
|
rs1481745974
|
0.00006
|
|
NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr)
|
rs727503328
|
0.00006
|
|
NM_000260.4(MYO7A):c.6272A>G (p.Lys2091Arg)
|
rs781713344
|
0.00006
|
|
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=)
|
rs200715586
|
0.00006
|
|
NM_000264.5(PTCH1):c.1342C>A (p.Leu448Ile)
|
rs537871675
|
0.00006
|
|
NM_000264.5(PTCH1):c.2437C>G (p.Pro813Ala)
|
rs45579032
|
0.00006
|
|
NM_000270.4(PNP):c.645C>T (p.Asp215=)
|
rs369193020
|
0.00006
|
|
NM_000271.5(NPC1):c.1479C>T (p.Ser493=)
|
rs148078801
|
0.00006
|
|
NM_000271.5(NPC1):c.1542G>A (p.Leu514=)
|
rs371076898
|
0.00006
|
|
NM_000271.5(NPC1):c.2246-6C>T
|
rs757950161
|
0.00006
|
|
NM_000271.5(NPC1):c.2862G>A (p.Ser954=)
|
rs373517774
|
0.00006
|
|
NM_000271.5(NPC1):c.3012G>A (p.Ser1004=)
|
rs182413311
|
0.00006
|
|
NM_000275.3(OCA2):c.2043C>G (p.Thr681=)
|
rs368126732
|
0.00006
|
|
NM_000277.3(PAH):c.222A>G (p.Lys74=)
|
rs374797155
|
0.00006
|
|
NM_000277.3(PAH):c.438C>T (p.His146=)
|
rs191142120
|
0.00006
|
|
NM_000283.4(PDE6B):c.142C>T (p.Arg48Trp)
|
rs191195745
|
0.00006
|
|
NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr)
|
rs768396832
|
0.00006
|
|
NM_000291.4(PGK1):c.1192G>A (p.Ala398Thr)
|
rs199644680
|
0.00006
|
|
NM_000291.4(PGK1):c.375T>A (p.His125Gln)
|
rs142134146
|
0.00006
|
|
NM_000293.3(PHKB):c.2136G>A (p.Pro712=)
|
rs200274360
|
0.00006
|
|
NM_000294.3(PHKG2):c.318G>T (p.Val106=)
|
rs199743139
|
0.00006
|
|
NM_000295.5(SERPINA1):c.1134G>A (p.Glu378=)
|
rs148362959
|
0.00006
|
|
NM_000295.5(SERPINA1):c.6G>A (p.Pro2=)
|
rs200936638
|
0.00006
|
|
NM_000303.3(PMM2):c.640-12G>A
|
rs375325546
|
0.00006
|
|
NM_000310.4(PPT1):c.*6G>A
|
rs113082671
|
0.00006
|
|
NM_000314.8(PTEN):c.720C>T (p.Tyr240=)
|
rs190070312
|
0.00006
|
|
NM_000322.5(PRPH2):c.44A>G (p.Lys15Arg)
|
rs555112175
|
0.00006
|
|
NM_000326.5(RLBP1):c.875C>T (p.Thr292Met)
|
rs201588178
|
0.00006
|
|
NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys)
|
rs372631097
|
0.00006
|
|
NM_000335.5(SCN5A):c.1734C>T (p.Pro578=)
|
rs200868190
|
0.00006
|
|
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His)
|
rs199473592
|
0.00006
|
|
NM_000335.5(SCN5A):c.3094G>A (p.Glu1032Lys)
|
rs369565476
|
0.00006
|
|
NM_000335.5(SCN5A):c.393-5C>A
|
rs368678204
|
0.00006
|
|
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp)
|
rs199473044
|
0.00006
|
|
NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn)
|
rs137854619
|
0.00006
|
|
NM_000335.5(SCN5A):c.5828G>A (p.Arg1943Gln)
|
rs767089602
|
0.00006
|
|
NM_000337.6(SGCD):c.69C>T (p.Tyr23=)
|
rs397517923
|
0.00006
|
|
NM_000338.3(SLC12A1):c.445G>A (p.Ala149Thr)
|
rs116848967
|
0.00006
|
|
NM_000342.4(SLC4A1):c.2694G>A (p.Glu898=)
|
rs373388521
|
0.00006
|
|
NM_000350.3(ABCA4):c.1267C>T (p.His423Tyr)
|
rs138044729
|
0.00006
|
|
NM_000350.3(ABCA4):c.2743+12A>C
|
rs559119402
|
0.00006
|
|
NM_000350.3(ABCA4):c.3523-9C>G
|
rs374302531
|
0.00006
|
|
NM_000350.3(ABCA4):c.5197-4C>T
|
rs758825834
|
0.00006
|
|
NM_000352.6(ABCC8):c.1924-13A>G
|
rs369865762
|
0.00006
|
|
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln)
|
rs146378237
|
0.00006
|
|
NM_000352.6(ABCC8):c.2635G>A (p.Asp879Asn)
|
rs531684936
|
0.00006
|
|
NM_000352.6(ABCC8):c.3329+7G>A
|
rs776313489
|
0.00006
|
|
NM_000352.6(ABCC8):c.3976G>A (p.Glu1326Lys)
|
rs200563930
|
0.00006
|
|
NM_000352.6(ABCC8):c.4733G>A (p.Arg1578His)
|
rs143557848
|
0.00006
|
|
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln)
|
rs185040406
|
0.00006
|
|
NM_000353.3(TAT):c.231C>A (p.Ser77=)
|
rs562235592
|
0.00006
|
|
NM_000359.3(TGM1):c.1761C>T (p.Asp587=)
|
rs751201972
|
0.00006
|
|
NM_000359.3(TGM1):c.550C>T (p.Pro184Ser)
|
rs200517023
|
0.00006
|
|
NM_000360.4(TH):c.104T>C (p.Ile35Thr)
|
rs747420332
|
0.00006
|
|
NM_000360.4(TH):c.1228C>A (p.Arg410=)
|
rs575326605
|
0.00006
|
|
NM_000360.4(TH):c.263C>T (p.Pro88Leu)
|
rs150260759
|
0.00006
|
|
NM_000363.5(TNNI3):c.139T>C (p.Leu47=)
|
rs587780967
|
0.00006
|
|
NM_000365.6(TPI1):c.458-18del
|
rs781911173
|
0.00006
|
|
NM_000368.5(TSC1):c.1047A>G (p.Pro349=)
|
rs118203492
|
0.00006
|
|
NM_000368.5(TSC1):c.1209G>A (p.Ser403=)
|
rs141184479
|
0.00006
|
|
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu)
|
rs118203553
|
0.00006
|
|
NM_000368.5(TSC1):c.3123C>G (p.Ser1041Arg)
|
rs753374839
|
0.00006
|
|
NM_000368.5(TSC1):c.513C>T (p.His171=)
|
rs377196837
|
0.00006
|
|
NM_000370.3(TTPA):c.355A>G (p.Ile119Val)
|
rs766200402
|
0.00006
|
|
NM_000371.4(TTR):c.355G>A (p.Asp119Asn)
|
rs76410435
|
0.00006
|
|
NM_000383.4(AIRE):c.1169C>T (p.Thr390Met)
|
rs201491251
|
0.00006
|
|
NM_000383.4(AIRE):c.718G>A (p.Gly240Ser)
|
rs142286875
|
0.00006
|
|
NM_000384.3(APOB):c.12677C>T (p.Thr4226Met)
|
rs371177562
|
0.00006
|
|
NM_000384.3(APOB):c.3246A>C (p.Glu1082Asp)
|
rs371987644
|
0.00006
|
|
NM_000384.3(APOB):c.3449T>A (p.Met1150Lys)
|
rs146223051
|
0.00006
|
|
NM_000384.3(APOB):c.4421A>G (p.Lys1474Arg)
|
rs759246439
|
0.00006
|
|
NM_000384.3(APOB):c.5387C>G (p.Thr1796Ser)
|
rs529168934
|
0.00006
|
|
NM_000384.3(APOB):c.5560G>A (p.Asp1854Asn)
|
rs138005301
|
0.00006
|
|
NM_000384.3(APOB):c.5734A>T (p.Asn1912Tyr)
|
rs186480094
|
0.00006
|
|
NM_000384.3(APOB):c.5863G>A (p.Val1955Met)
|
rs368970025
|
0.00006
|
|
NM_000384.3(APOB):c.6019G>A (p.Val2007Met)
|
rs145424390
|
0.00006
|
|
NM_000384.3(APOB):c.7094C>T (p.Ala2365Val)
|
rs200034452
|
0.00006
|
|
NM_000384.3(APOB):c.7698G>C (p.Glu2566Asp)
|
rs149306841
|
0.00006
|
|
NM_000384.3(APOB):c.8134C>T (p.Arg2712Cys)
|
rs372245645
|
0.00006
|
|
NM_000384.3(APOB):c.8198T>C (p.Val2733Ala)
|
rs771792572
|
0.00006
|
|
NM_000384.3(APOB):c.9407G>A (p.Arg3136His)
|
rs199590149
|
0.00006
|
|
NM_000384.3(APOB):c.9493A>G (p.Thr3165Ala)
|
rs149166048
|
0.00006
|
|
NM_000391.4(TPP1):c.323C>T (p.Ala108Val)
|
rs374132017
|
0.00006
|
|
NM_000391.4(TPP1):c.437C>T (p.Thr146Met)
|
rs748686068
|
0.00006
|
|
NM_000392.5(ABCC2):c.3576C>G (p.Thr1192=)
|
rs146575217
|
0.00006
|
|
NM_000392.5(ABCC2):c.3987+10G>A
|
rs373365135
|
0.00006
|
|
NM_000393.5(COL5A2):c.2408T>C (p.Leu803Ser)
|
rs149737825
|
0.00006
|
|
NM_000393.5(COL5A2):c.376G>A (p.Gly126Ser)
|
rs779153546
|
0.00006
|
|
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly)
|
rs200325397
|
0.00006
|
|
NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val)
|
rs28943590
|
0.00006
|
|
NM_000414.4(HSD17B4):c.622+5G>A
|
rs536487449
|
0.00006
|
|
NM_000417.3(IL2RA):c.584-6C>T
|
rs201675947
|
0.00006
|
|
NM_000419.5(ITGA2B):c.2862G>A (p.Val954=)
|
rs201119421
|
0.00006
|
|
NM_000426.4(LAMA2):c.3862G>A (p.Val1288Ile)
|
rs758134778
|
0.00006
|
|
NM_000426.4(LAMA2):c.409G>A (p.Ala137Thr)
|
rs368349321
|
0.00006
|
|
NM_000426.4(LAMA2):c.4157A>T (p.Tyr1386Phe)
|
rs560139751
|
0.00006
|
|
NM_000426.4(LAMA2):c.7344T>C (p.Asn2448=)
|
rs199931560
|
0.00006
|
|
NM_000426.4(LAMA2):c.7978C>A (p.Leu2660Ile)
|
rs201587923
|
0.00006
|
|
NM_000426.4(LAMA2):c.8524A>G (p.Ile2842Val)
|
rs140178576
|
0.00006
|
|
NM_000426.4(LAMA2):c.8836G>A (p.Gly2946Arg)
|
rs370843758
|
0.00006
|
|
NM_000429.3(MAT1A):c.204T>C (p.Cys68=)
|
rs200574801
|
0.00006
|
|
NM_000429.3(MAT1A):c.550-5G>A
|
rs761943871
|
0.00006
|
|
NM_000435.3(NOTCH3):c.1416G>T (p.Glu472Asp)
|
rs1416152273
|
0.00006
|
|
NM_000435.3(NOTCH3):c.2000G>A (p.Gly667Asp)
|
rs370386680
|
0.00006
|
|
NM_000435.3(NOTCH3):c.2358C>T (p.Cys786=)
|
rs754220821
|
0.00006
|
|
NM_000435.3(NOTCH3):c.359C>T (p.Pro120Leu)
|
rs778715118
|
0.00006
|
|
NM_000435.3(NOTCH3):c.472G>A (p.Asp158Asn)
|
rs544773641
|
0.00006
|
|
NM_000435.3(NOTCH3):c.6619C>T (p.Arg2207Trp)
|
rs753170185
|
0.00006
|
|
NM_000435.3(NOTCH3):c.754G>A (p.Val252Met)
|
rs115836330
|
0.00006
|
|
NM_000439.5(PCSK1):c.1764G>A (p.Lys588=)
|
rs538803955
|
0.00006
|
|
NM_000441.2(SLC26A4):c.1233C>T (p.Ala411=)
|
rs766572560
|
0.00006
|
|
NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu)
|
rs200511789
|
0.00006
|
|
NM_000441.2(SLC26A4):c.2283A>G (p.Thr761=)
|
rs202033028
|
0.00006
|
|
NM_000443.4(ABCB4):c.2340C>T (p.Gly780=)
|
rs148865252
|
0.00006
|
|
NM_000443.4(ABCB4):c.3285C>T (p.Leu1095=)
|
rs561612231
|
0.00006
|
|
NM_000443.4(ABCB4):c.3411G>C (p.Arg1137=)
|
rs771437431
|
0.00006
|
|
NM_000452.3(SLC10A2):c.261G>A (p.Ser87=)
|
rs200682819
|
0.00006
|
|
NM_000455.5(STK11):c.1027G>A (p.Asp343Asn)
|
rs368547224
|
0.00006
|
|
NM_000455.5(STK11):c.125G>T (p.Arg42Leu)
|
rs148830698
|
0.00006
|
|
NM_000455.5(STK11):c.842C>T (p.Pro281Leu)
|
rs121913322
|
0.00006
|
|
NM_000455.5(STK11):c.992G>A (p.Arg331Gln)
|
rs371264852
|
0.00006
|
|
NM_000458.4(HNF1B):c.1339+17G>A
|
rs374854968
|
0.00006
|
|
NM_000458.4(HNF1B):c.313G>A (p.Glu105Lys)
|
rs199572129
|
0.00006
|
|
NM_000458.4(HNF1B):c.36C>T (p.Leu12=)
|
rs749370057
|
0.00006
|
|
NM_000463.3(UGT1A1):c.1231G>T (p.Val411Leu)
|
rs36076514
|
0.00006
|
|
NM_000465.4(BARD1):c.1104C>G (p.Cys368Trp)
|
rs371147849
|
0.00006
|
|
NM_000465.4(BARD1):c.119C>T (p.Ala40Val)
|
rs71579841
|
0.00006
|
|
NM_000465.4(BARD1):c.1586G>A (p.Arg529Gln)
|
rs753479021
|
0.00006
|
|
NM_000465.4(BARD1):c.1973G>A (p.Arg658His)
|
rs377227840
|
0.00006
|
|
NM_000465.4(BARD1):c.716T>A (p.Leu239Gln)
|
rs200359745
|
0.00006
|
|
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys)
|
rs3738885
|
0.00006
|
|
NM_000466.3(PEX1):c.1042A>G (p.Thr348Ala)
|
rs371309198
|
0.00006
|
|
NM_000466.3(PEX1):c.1284C>T (p.Ala428=)
|
rs145153467
|
0.00006
|
|
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp)
|
rs374167385
|
0.00006
|
|
NM_000466.3(PEX1):c.2927-12T>A
|
rs375062546
|
0.00006
|
|
NM_000466.3(PEX1):c.674T>A (p.Ile225Asn)
|
rs372485912
|
0.00006
|
|
NM_000478.6(ALPL):c.1446C>T (p.His482=)
|
rs747980975
|
0.00006
|
|
NM_000481.4(AMT):c.555C>T (p.Pro185=)
|
rs144790394
|
0.00006
|
|
NM_000481.4(AMT):c.91-9C>T
|
rs761235679
|
0.00006
|
|
NM_000484.4(APP):c.1458+9C>T
|
rs201937048
|
0.00006
|
|
NM_000487.6(ARSA):c.225-5C>T
|
rs192013394
|
0.00006
|
|
NM_000487.6(ARSA):c.918G>A (p.Thr306=)
|
rs370250328
|
0.00006
|
|
NM_000489.6(ATRX):c.1033G>A (p.Ala345Thr)
|
rs149249195
|
0.00006
|
|
NM_000489.6(ATRX):c.2105A>G (p.Asn702Ser)
|
rs782409603
|
0.00006
|
|
NM_000492.4(CFTR):c.1679+18G>A
|
rs369294289
|
0.00006
|
|
NM_000492.4(CFTR):c.2769C>T (p.Ala923=)
|
rs1800108
|
0.00006
|
|
NM_000492.4(CFTR):c.3289C>T (p.Arg1097Cys)
|
rs201591901
|
0.00006
|
|
NM_000492.4(CFTR):c.3429G>A (p.Leu1143=)
|
rs375845215
|
0.00006
|
|
NM_000492.4(CFTR):c.3517G>A (p.Gly1173Ser)
|
rs368393738
|
0.00006
|
|
NM_000492.4(CFTR):c.3964-16T>C
|
rs199672530
|
0.00006
|
|
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=)
|
rs761669740
|
0.00006
|
|
NM_000492.4(CFTR):c.663G>A (p.Ala221=)
|
rs758147990
|
0.00006
|
|
NM_000498.3(CYP11B2):c.1215T>G (p.Val405=)
|
rs745762132
|
0.00006
|
|
NM_000498.3(CYP11B2):c.596-4G>A
|
rs370388708
|
0.00006
|
|
NM_000501.4(ELN):c.1234G>A (p.Gly412Arg)
|
rs375116795
|
0.00006
|
|
NM_000501.4(ELN):c.659C>T (p.Pro220Leu)
|
rs201012726
|
0.00006
|
|
NM_000503.6(EYA1):c.671G>T (p.Gly224Val)
|
rs201509408
|
0.00006
|
|
NM_000506.5(F2):c.1815T>C (p.His605=)
|
rs368442575
|
0.00006
|
|
NM_000512.5(GALNS):c.1071G>A (p.Pro357=)
|
rs374619390
|
0.00006
|
|
NM_000512.5(GALNS):c.1186G>A (p.Gly396Arg)
|
rs371459975
|
0.00006
|
|
NM_000512.5(GALNS):c.1269C>T (p.Asn423=)
|
rs148709901
|
0.00006
|
|
NM_000512.5(GALNS):c.665G>A (p.Arg222Gln)
|
rs140162658
|
0.00006
|
|
NM_000518.5(HBB):c.316-189A>G
|
rs1034207896
|
0.00006
|
|
NM_000521.4(HEXB):c.1269A>G (p.Val423=)
|
rs746407358
|
0.00006
|
|
NM_000527.5(LDLR):c.1026C>G (p.Asp342Glu)
|
rs780563386
|
0.00006
|
|
NM_000527.5(LDLR):c.1359-3C>T
|
rs775657243
|
0.00006
|
|
NM_000527.5(LDLR):c.1516G>A (p.Val506Met)
|
rs373848925
|
0.00006
|
|
NM_000527.5(LDLR):c.1846-10G>T
|
rs368243304
|
0.00006
|
|
NM_000527.5(LDLR):c.1988-5C>G
|
rs375877599
|
0.00006
|
|
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met)
|
rs138477254
|
0.00006
|
|
NM_000527.5(LDLR):c.2320G>A (p.Asp774Asn)
|
rs138190838
|
0.00006
|
|
NM_000527.5(LDLR):c.233G>A (p.Arg78His)
|
rs146675823
|
0.00006
|
|
NM_000527.5(LDLR):c.313C>T (p.Pro105Ser)
|
rs13306510
|
0.00006
|
|
NM_000527.5(LDLR):c.344G>A (p.Arg115His)
|
rs201102461
|
0.00006
|
|
NM_000527.5(LDLR):c.979C>T (p.His327Tyr)
|
rs747507019
|
0.00006
|
|
NM_000528.4(MAN2B1):c.2007G>A (p.Pro669=)
|
rs762152042
|
0.00006
|
|
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg)
|
rs754733253
|
0.00006
|
|
NM_000535.7(PMS2):c.1145-10G>A
|
rs533551639
|
0.00006
|
|
NM_000535.7(PMS2):c.1169C>T (p.Ala390Val)
|
rs587780039
|
0.00006
|
|
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp)
|
rs150201462
|
0.00006
|
|
NM_000535.7(PMS2):c.1394A>G (p.Lys465Arg)
|
rs141084758
|
0.00006
|
|
NM_000535.7(PMS2):c.1510G>C (p.Glu504Gln)
|
rs368516768
|
0.00006
|
|
NM_000535.7(PMS2):c.1577A>G (p.Asp526Gly)
|
rs143235330
|
0.00006
|
|
NM_000535.7(PMS2):c.1937G>T (p.Arg646Met)
|
rs372341850
|
0.00006
|
|
NM_000535.7(PMS2):c.353+6A>G
|
rs376449640
|
0.00006
|
|
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln)
|
rs587781934
|
0.00006
|
|
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln)
|
rs116314131
|
0.00006
|
|
NM_000540.3(RYR1):c.10274C>T (p.Thr3425Met)
|
rs150977342
|
0.00006
|
|
NM_000540.3(RYR1):c.10440+7G>A
|
rs750987143
|
0.00006
|
|
NM_000540.3(RYR1):c.10938-11C>T
|
rs760754746
|
0.00006
|
|
NM_000540.3(RYR1):c.13350G>A (p.Gly4450=)
|
rs748743312
|
0.00006
|
|
NM_000540.3(RYR1):c.13568A>G (p.Lys4523Arg)
|
rs762657816
|
0.00006
|
|
NM_000540.3(RYR1):c.14868+6T>A
|
rs759934562
|
0.00006
|
|
NM_000540.3(RYR1):c.152C>A (p.Thr51Asn)
|
rs193922749
|
0.00006
|
|
NM_000540.3(RYR1):c.2356G>A (p.Val786Ile)
|
rs369281291
|
0.00006
|
|
NM_000540.3(RYR1):c.2603G>A (p.Arg868His)
|
rs750938678
|
0.00006
|
|
NM_000540.3(RYR1):c.2844C>T (p.Asn948=)
|
rs761045773
|
0.00006
|
|
NM_000540.3(RYR1):c.3951C>T (p.Pro1317=)
|
rs745447236
|
0.00006
|
|
NM_000540.3(RYR1):c.4038C>A (p.Asn1346Lys)
|
rs777049924
|
0.00006
|
|
NM_000540.3(RYR1):c.4620+13C>T
|
rs201971363
|
0.00006
|
|
NM_000540.3(RYR1):c.5385G>C (p.Pro1795=)
|
rs772422894
|
0.00006
|
|
NM_000540.3(RYR1):c.6302T>A (p.Met2101Lys)
|
rs746818096
|
0.00006
|
|
NM_000540.3(RYR1):c.7229C>T (p.Pro2410Leu)
|
rs145787667
|
0.00006
|
|
NM_000540.3(RYR1):c.7344T>C (p.Gly2448=)
|
rs199813873
|
0.00006
|
|
NM_000540.3(RYR1):c.7839C>T (p.Tyr2613=)
|
rs758413758
|
0.00006
|
|
NM_000540.3(RYR1):c.7992C>T (p.Phe2664=)
|
rs150620191
|
0.00006
|
|
NM_000540.3(RYR1):c.8598C>T (p.Thr2866=)
|
rs538250432
|
0.00006
|
|
NM_000540.3(RYR1):c.9555-10C>T
|
rs774666035
|
0.00006
|
|
NM_000541.5(SAG):c.468C>T (p.Phe156=)
|
rs375593027
|
0.00006
|
|
NM_000543.5(SMPD1):c.1632C>T (p.Thr544=)
|
rs201659696
|
0.00006
|
|
NM_000543.5(SMPD1):c.373C>T (p.Leu125=)
|
rs370048730
|
0.00006
|
|
NM_000546.6(TP53):c.1015G>A (p.Glu339Lys)
|
rs17882252
|
0.00006
|
|
NM_000546.6(TP53):c.248C>T (p.Ala83Val)
|
rs201717599
|
0.00006
|
|
NM_000546.6(TP53):c.920-17C>A
|
rs911934766
|
0.00006
|
|
NM_000548.5(TSC2):c.2071C>T (p.Arg691Cys)
|
rs760489473
|
0.00006
|
|
NM_000548.5(TSC2):c.3100G>A (p.Val1034Ile)
|
rs146745242
|
0.00006
|
|
NM_000548.5(TSC2):c.3358G>T (p.Val1120Leu)
|
rs1053311636
|
0.00006
|
|
NM_000548.5(TSC2):c.3733C>T (p.Arg1245Trp)
|
rs777489742
|
0.00006
|
|
NM_000548.5(TSC2):c.3883+6G>A
|
rs757751865
|
0.00006
|
|
NM_000548.5(TSC2):c.4795G>A (p.Val1599Met)
|
rs772687631
|
0.00006
|
|
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His)
|
rs45517392
|
0.00006
|
|
NM_000548.5(TSC2):c.5265C>T (p.Cys1755=)
|
rs141449031
|
0.00006
|
|
NM_000548.5(TSC2):c.5368G>A (p.Val1790Met)
|
rs200140994
|
0.00006
|
|
NM_000548.5(TSC2):c.5384G>A (p.Arg1795His)
|
rs137854288
|
0.00006
|
|
NM_000548.5(TSC2):c.648+6T>C
|
rs372007135
|
0.00006
|
|
NM_000551.4(VHL):c.28G>A (p.Glu10Lys)
|
rs1057519261
|
0.00006
|
|
NM_000551.4(VHL):c.89G>A (p.Gly30Glu)
|
rs1064793290
|
0.00006
|
|
NM_000601.6(HGF):c.1814C>T (p.Thr605Ile)
|
rs147075806
|
0.00006
|
|
NM_000642.3(AGL):c.2607A>G (p.Gln869=)
|
rs747817359
|
0.00006
|
|
NM_000642.3(AGL):c.293+3A>G
|
rs375459662
|
0.00006
|
|
NM_000642.3(AGL):c.609A>G (p.Lys203=)
|
rs186709388
|
0.00006
|
|
NM_000709.4(BCKDHA):c.978C>T (p.Ile326=)
|
rs398123514
|
0.00006
|
|
NM_000719.7(CACNA1C):c.2350C>T (p.Pro784Ser)
|
rs749935207
|
0.00006
|
|
NM_000719.7(CACNA1C):c.5423C>T (p.Ala1808Val)
|
rs745997744
|
0.00006
|
|
NM_000722.4(CACNA2D1):c.1086G>A (p.Thr362=)
|
rs148592476
|
0.00006
|
|
NM_000722.4(CACNA2D1):c.3218T>C (p.Ile1073Thr)
|
rs146250893
|
0.00006
|
|
NM_000744.7(CHRNA4):c.138C>T (p.Ser46=)
|
rs200705061
|
0.00006
|
|
NM_000744.7(CHRNA4):c.1454G>A (p.Arg485Gln)
|
rs755416498
|
0.00006
|
|
NM_000751.3(CHRND):c.1127G>A (p.Arg376Gln)
|
rs749866545
|
0.00006
|
|
NM_000784.4(CYP27A1):c.420C>T (p.His140=)
|
rs139415581
|
0.00006
|
|
NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser)
|
rs145080072
|
0.00006
|
|
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met)
|
rs199691576
|
0.00006
|
|
NM_000789.4(ACE):c.2858G>A (p.Arg953Gln)
|
rs143507892
|
0.00006
|
|
NM_000823.4(GHRHR):c.138G>A (p.Glu46=)
|
rs375206873
|
0.00006
|
|
NM_000834.5(GRIN2B):c.1768G>A (p.Ala590Thr)
|
rs145021339
|
0.00006
|
|
NM_000834.5(GRIN2B):c.3047G>A (p.Arg1016Lys)
|
rs141109968
|
0.00006
|
|
NM_000875.5(IGF1R):c.1692C>T (p.Pro564=)
|
rs9282723
|
0.00006
|
|
NM_000890.5(KCNJ5):c.53C>T (p.Thr18Ile)
|
rs375669366
|
0.00006
|
|
NM_000925.4(PDHB):c.937C>G (p.Pro313Ala)
|
rs201105914
|
0.00006
|
|
NM_001001331.4(ATP2B2):c.1627G>A (p.Ala543Thr)
|
rs777396418
|
0.00006
|
|
NM_001003841.3(SLC6A19):c.1117G>A (p.Ala373Thr)
|
rs775834401
|
0.00006
|
|
NM_001003841.3(SLC6A19):c.812C>T (p.Ala271Val)
|
rs374976872
|
0.00006
|
|
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val)
|
rs143900944
|
0.00006
|
|
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala)
|
rs397516999
|
0.00006
|
|
NM_001005361.3(DNM2):c.2231T>C (p.Val744Ala)
|
rs777609224
|
0.00006
|
|
NM_001006658.3(CR2):c.818-4C>T
|
rs370106455
|
0.00006
|
|
NM_001008537.3(NEXMIF):c.3386T>G (p.Phe1129Cys)
|
rs202207238
|
0.00006
|
|
NM_001018008.2(TPM1):c.695G>A (p.Arg232His)
|
rs730881128
|
0.00006
|
|
NM_001018115.3(FANCD2):c.4186-13C>T
|
rs755767180
|
0.00006
|
|
NM_001032221.6(STXBP1):c.1320C>T (p.Ile440=)
|
rs370249358
|
0.00006
|
|
NM_001032386.2(SUOX):c.50+9G>A
|
rs368327991
|
0.00006
|
|
NM_001035.3(RYR2):c.10725+4A>T
|
rs116444428
|
0.00006
|
|
NM_001035.3(RYR2):c.10838+4G>A
|
rs776923037
|
0.00006
|
|
NM_001035.3(RYR2):c.1511G>A (p.Arg504His)
|
rs201600087
|
0.00006
|
|
NM_001035.3(RYR2):c.2772G>A (p.Leu924=)
|
rs780664060
|
0.00006
|
|
NM_001035.3(RYR2):c.5614G>A (p.Asp1872Asn)
|
rs761770946
|
0.00006
|
|
NM_001035.3(RYR2):c.848+8G>C
|
rs373075790
|
0.00006
|
|
NM_001036.6(RYR3):c.13207C>T (p.Leu4403=)
|
rs369324246
|
0.00006
|
|
NM_001037.5(SCN1B):c.415G>A (p.Val139Ile)
|
rs560827790
|
0.00006
|
|
NM_001039958.2(MESP2):c.561G>A (p.Gly187=)
|
rs767474985
|
0.00006
|
|
NM_001040108.2(MLH3):c.277C>G (p.Arg93Gly)
|
rs28756978
|
0.00006
|
|
NM_001040142.2(SCN2A):c.3456C>T (p.Ala1152=)
|
rs144325450
|
0.00006
|
|
NM_001040436.3(YARS2):c.883G>A (p.Asp295Asn)
|
rs760072286
|
0.00006
|
|
NM_001040716.2(PC):c.1589C>T (p.Pro530Leu)
|
rs370248734
|
0.00006
|
|
NM_001042492.3(NF1):c.3686A>G (p.Asn1229Ser)
|
rs140523180
|
0.00006
|
|
NM_001042492.3(NF1):c.4526G>A (p.Arg1509His)
|
rs546073780
|
0.00006
|
|
NM_001042492.3(NF1):c.5961G>A (p.Gln1987=)
|
rs757536610
|
0.00006
|
|
NM_001042492.3(NF1):c.7006G>A (p.Ala2336Thr)
|
rs587781428
|
0.00006
|
|
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile)
|
rs149055633
|
0.00006
|
|
NM_001042492.3(NF1):c.8395G>A (p.Val2799Ile)
|
rs377393842
|
0.00006
|
|
NM_001042517.2(DIAPH3):c.2945T>C (p.Ile982Thr)
|
rs754642174
|
0.00006
|
|
NM_001042545.2(LTBP4):c.691-18C>T
|
rs964866317
|
0.00006
|
|
NM_001048174.2(MUTYH):c.305-13C>G
|
rs201207780
|
0.00006
|
|
NM_001048174.2(MUTYH):c.488G>A (p.Arg163Gln)
|
rs369677603
|
0.00006
|
|
NM_001048174.2(MUTYH):c.729C>T (p.Asp243=)
|
rs730881838
|
0.00006
|
|
NM_001077365.2(POMT1):c.1486+9G>A
|
rs547775333
|
0.00006
|
|
NM_001077365.2(POMT1):c.2031C>T (p.Ser677=)
|
rs778418119
|
0.00006
|
|
NM_001077446.4(TSEN34):c.-8G>A
|
rs573039542
|
0.00006
|
|
NM_001079668.3(NKX2-1):c.1054G>A (p.Gly352Ser)
|
rs200560568
|
0.00006
|
|
NM_001079802.2(FKTN):c.869A>T (p.Lys290Ile)
|
rs755092516
|
0.00006
|
|
NM_001079802.2(FKTN):c.929A>G (p.Asn310Ser)
|
rs776639304
|
0.00006
|
|
NM_001079855.2(GYG2):c.8-146C>A
|
rs760717128
|
0.00006
|
|
NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys)
|
rs140812286
|
0.00006
|
|
NM_001079872.2(CUL4B):c.*7G>A
|
rs769730471
|
0.00006
|
|
NM_001080.3(ALDH5A1):c.525C>T (p.Tyr175=)
|
rs372455508
|
0.00006
|
|
NM_001080517.3(SETD5):c.1608G>T (p.Leu536Phe)
|
rs770369588
|
0.00006
|
|
NM_001081.4(CUBN):c.2120G>A (p.Arg707His)
|
rs763524933
|
0.00006
|
|
NM_001082971.2(DDC):c.315+11G>A
|
rs753275419
|
0.00006
|
|
NM_001082971.2(DDC):c.816A>C (p.Ala272=)
|
rs767990522
|
0.00006
|
|
NM_001083116.3(PRF1):c.189A>C (p.Thr63=)
|
rs759983785
|
0.00006
|
|
NM_001083962.2(TCF4):c.1245T>C (p.His415=)
|
rs148909575
|
0.00006
|
|
NM_001084.5(PLOD3):c.805G>A (p.Val269Ile)
|
rs377320080
|
0.00006
|
|
NM_001089.3(ABCA3):c.2415-4T>G
|
rs201775187
|
0.00006
|
|
NM_001098484.3(SLC4A4):c.1297T>C (p.Cys433Arg)
|
rs771339934
|
0.00006
|
|
NM_001098511.3(KIF2A):c.558+4C>T
|
rs151192663
|
0.00006
|
|
NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln)
|
rs773739293
|
0.00006
|
|
NM_001103.4(ACTN2):c.2568G>A (p.Pro856=)
|
rs149554430
|
0.00006
|
|
NM_001103.4(ACTN2):c.947T>C (p.Met316Thr)
|
rs370757762
|
0.00006
|
|
NM_001105206.3(LAMA4):c.1960-3T>C
|
rs373682270
|
0.00006
|
|
NM_001105206.3(LAMA4):c.2569G>A (p.Ala857Thr)
|
rs144123257
|
0.00006
|
|
NM_001105206.3(LAMA4):c.3834G>A (p.Gly1278=)
|
rs141988342
|
0.00006
|
|
NM_001105206.3(LAMA4):c.5393T>C (p.Ile1798Thr)
|
rs377204776
|
0.00006
|
|
NM_001105206.3(LAMA4):c.5444dup (p.Ser1816fs)
|
rs782327744
|
0.00006
|
|
NM_001105206.3(LAMA4):c.829G>A (p.Val277Ile)
|
rs146225813
|
0.00006
|
|
NM_001110556.2(FLNA):c.4060G>A (p.Asp1354Asn)
|
rs377390031
|
0.00006
|
|
NM_001110556.2(FLNA):c.5448G>A (p.Ala1816=)
|
rs782806731
|
0.00006
|
|
NM_001110556.2(FLNA):c.66C>T (p.Asp22=)
|
rs782358007
|
0.00006
|
|
NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser)
|
rs61753000
|
0.00006
|
|
NM_001110792.2(MECP2):c.737C>G (p.Ala246Gly)
|
rs138211345
|
0.00006
|
|
NM_001110792.2(MECP2):c.90C>G (p.Leu30=)
|
rs372500343
|
0.00006
|
|
NM_001113525.2(ZNF276):c.*2634C>T
|
rs34476949
|
0.00006
|
|
NM_001114134.2(EPB42):c.1075+7C>A
|
rs761030391
|
0.00006
|
|
NM_001114753.3(ENG):c.1852+42C>T
|
rs779974705
|
0.00006
|
|
NM_001122681.2(SH3BP2):c.1150C>T (p.Arg384Trp)
|
rs529543434
|
0.00006
|
|
NM_001122681.2(SH3BP2):c.34A>G (p.Met12Val)
|
rs148117486
|
0.00006
|
|
NM_001122681.2(SH3BP2):c.440C>T (p.Ser147Leu)
|
rs150461713
|
0.00006
|
|
NM_001126049.2(KLLN):c.-780C>T
|
rs876661037
|
0.00006
|
|
NM_001126049.2(KLLN):c.-808G>A
|
rs1487906620
|
0.00006
|
|
NM_001126108.2(SLC12A3):c.2793C>T (p.Asn931=)
|
rs13306666
|
0.00006
|
|
NM_001126121.2(SLC25A19):c.135T>A (p.Leu45=)
|
rs373190423
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.2501A>C (p.Asn834Thr)
|
rs201666606
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.2676C>T (p.Ser892=)
|
rs780515850
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.3649A>G (p.Met1217Val)
|
rs372017604
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser)
|
rs751947412
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.6077A>G (p.Glu2026Gly)
|
rs771768635
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.6190-3C>A
|
rs368480650
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.6203G>A (p.Arg2068Gln)
|
rs769040794
|
0.00006
|
|
NM_001127255.2(NLRP7):c.531C>T (p.His177=)
|
rs746150420
|
0.00006
|
|
NM_001127649.3(PEX26):c.441C>T (p.Asp147=)
|
rs770611373
|
0.00006
|
|
NM_001128225.3(SLC39A13):c.1090G>T (p.Val364Leu)
|
rs542593908
|
0.00006
|
|
NM_001128228.3(TPRN):c.1726-7C>T
|
rs377461469
|
0.00006
|
|
NM_001128840.3(CACNA1D):c.789C>G (p.Ser263=)
|
rs369697705
|
0.00006
|
|
NM_001128840.3(CACNA1D):c.962G>A (p.Gly321Glu)
|
rs763483604
|
0.00006
|
|
NM_001130144.3(LTBP3):c.1645C>G (p.Pro549Ala)
|
rs145060640
|
0.00006
|
|
NM_001130438.3(SPTAN1):c.2888C>T (p.Thr963Met)
|
rs375623472
|
0.00006
|
|
NM_001130438.3(SPTAN1):c.5648A>G (p.Asn1883Ser)
|
rs200248814
|
0.00006
|
|
NM_001130438.3(SPTAN1):c.5881G>A (p.Gly1961Arg)
|
rs142498180
|
0.00006
|
|
NM_001130987.2(DYSF):c.1370C>T (p.Ala457Val)
|
rs146588926
|
0.00006
|
|
NM_001130987.2(DYSF):c.378G>A (p.Pro126=)
|
rs377056951
|
0.00006
|
|
NM_001130987.2(DYSF):c.4608G>T (p.Lys1536Asn)
|
rs182185801
|
0.00006
|
|
NM_001130987.2(DYSF):c.799G>A (p.Val267Met)
|
rs750724439
|
0.00006
|
|
NM_001134363.3(RBM20):c.1161G>A (p.Ala387=)
|
rs374299043
|
0.00006
|
|
NM_001134363.3(RBM20):c.2018G>A (p.Arg673Gln)
|
rs138926584
|
0.00006
|
|
NM_001134363.3(RBM20):c.2359G>A (p.Glu787Lys)
|
rs886038886
|
0.00006
|
|
NM_001134363.3(RBM20):c.2579A>G (p.Glu860Gly)
|
rs758720475
|
0.00006
|
|
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His)
|
rs563762318
|
0.00006
|
|
NM_001134363.3(RBM20):c.3574-7T>G
|
rs397516616
|
0.00006
|
|
NM_001134363.3(RBM20):c.442G>A (p.Gly148Ser)
|
rs375200447
|
0.00006
|
|
NM_001134407.3(GRIN2A):c.2909G>A (p.Arg970Gln)
|
rs148669437
|
0.00006
|
|
NM_001134407.3(GRIN2A):c.3103G>A (p.Asp1035Asn)
|
rs540445580
|
0.00006
|
|
NM_001134407.3(GRIN2A):c.4170G>A (p.Ser1390=)
|
rs1057522803
|
0.00006
|
|
NM_001134831.2(AHI1):c.1680A>G (p.Pro560=)
|
rs200949030
|
0.00006
|
|
NM_001136193.2(FASTKD2):c.1778C>T (p.Ser593Leu)
|
rs150016888
|
0.00006
|
|
NM_001142800.2(EYS):c.-209C>T
|
rs1004023794
|
0.00006
|
|
NM_001142800.2(EYS):c.1461A>T (p.Gly487=)
|
rs376870255
|
0.00006
|
|
NM_001148.6(ANK2):c.10016C>T (p.Ala3339Val)
|
rs150437645
|
0.00006
|
|
NM_001148.6(ANK2):c.11354A>G (p.Gln3785Arg)
|
rs150808807
|
0.00006
|
|
NM_001148.6(ANK2):c.4982A>G (p.Lys1661Arg)
|
rs761759361
|
0.00006
|
|
NM_001148.6(ANK2):c.5570T>A (p.Val1857Glu)
|
rs141212932
|
0.00006
|
|
NM_001148.6(ANK2):c.7412G>A (p.Ser2471Asn)
|
rs375139170
|
0.00006
|
|
NM_001148.6(ANK2):c.8176A>G (p.Thr2726Ala)
|
rs781344591
|
0.00006
|
|
NM_001148.6(ANK2):c.8324A>G (p.His2775Arg)
|
rs534934297
|
0.00006
|
|
NM_001148.6(ANK2):c.85-5C>T
|
rs372560419
|
0.00006
|
|
NM_001148.6(ANK2):c.9916G>A (p.Val3306Ile)
|
rs200922244
|
0.00006
|
|
NM_001160372.4(TRAPPC9):c.2245C>T (p.Leu749=)
|
rs375545861
|
0.00006
|
|
NM_001160372.4(TRAPPC9):c.3055+10C>T
|
rs571622542
|
0.00006
|
|
NM_001164277.2(SLC37A4):c.1125-7_1125-6del
|
rs782342989
|
0.00006
|
|
NM_001164507.2(NEB):c.21341G>A (p.Arg7114Gln)
|
rs372284984
|
0.00006
|
|
NM_001164508.2(NEB):c.10233T>C (p.Ala3411=)
|
rs727504033
|
0.00006
|
|
NM_001164508.2(NEB):c.11717G>A (p.Arg3906His)
|
rs556930902
|
0.00006
|
|
NM_001164508.2(NEB):c.17118C>T (p.Asp5706=)
|
rs769476760
|
0.00006
|
|
NM_001164508.2(NEB):c.17628C>T (p.Leu5876=)
|
rs377183242
|
0.00006
|
|
NM_001164508.2(NEB):c.18694-7A>T
|
rs373371474
|
0.00006
|
|
NM_001164508.2(NEB):c.18746A>G (p.Asn6249Ser)
|
rs550191566
|
0.00006
|
|
NM_001164508.2(NEB):c.19139A>G (p.Lys6380Arg)
|
rs757621444
|
0.00006
|
|
NM_001164508.2(NEB):c.19477G>A (p.Val6493Met)
|
rs1233717326
|
0.00006
|
|
NM_001164508.2(NEB):c.19535T>C (p.Ile6512Thr)
|
rs751483486
|
0.00006
|
|
NM_001164508.2(NEB):c.19576G>A (p.Asp6526Asn)
|
rs201731351
|
0.00006
|
|
NM_001164508.2(NEB):c.19674C>T (p.Tyr6558=)
|
rs201515651
|
0.00006
|
|
NM_001164508.2(NEB):c.2020G>A (p.Val674Ile)
|
rs775553284
|
0.00006
|
|
NM_001164508.2(NEB):c.20228G>A (p.Arg6743His)
|
rs755370356
|
0.00006
|
|
NM_001164508.2(NEB):c.20441G>A (p.Arg6814His)
|
rs773584363
|
0.00006
|
|
NM_001164508.2(NEB):c.21215A>G (p.Tyr7072Cys)
|
rs763554121
|
0.00006
|
|
NM_001164508.2(NEB):c.22037A>T (p.Asn7346Ile)
|
rs140982447
|
0.00006
|
|
NM_001164508.2(NEB):c.2215A>G (p.Thr739Ala)
|
rs754959175
|
0.00006
|
|
NM_001164508.2(NEB):c.22187A>G (p.Lys7396Arg)
|
rs201548700
|
0.00006
|
|
NM_001164508.2(NEB):c.23048T>C (p.Ile7683Thr)
|
rs374941096
|
0.00006
|
|
NM_001164508.2(NEB):c.23051G>A (p.Arg7684His)
|
rs372699411
|
0.00006
|
|
NM_001164508.2(NEB):c.2415T>C (p.Asp805=)
|
rs566989836
|
0.00006
|
|
NM_001164508.2(NEB):c.24171G>T (p.Met8057Ile)
|
rs758996758
|
0.00006
|
|
NM_001164508.2(NEB):c.24909T>C (p.Gly8303=)
|
rs754365974
|
0.00006
|
|
NM_001164508.2(NEB):c.25260G>A (p.Ser8420=)
|
rs1390774664
|
0.00006
|
|
NM_001164508.2(NEB):c.25368G>A (p.Thr8456=)
|
rs200083849
|
0.00006
|
|
NM_001164508.2(NEB):c.4103G>A (p.Arg1368His)
|
rs201984572
|
0.00006
|
|
NM_001164508.2(NEB):c.5300C>T (p.Pro1767Leu)
|
rs370000978
|
0.00006
|
|
NM_001164508.2(NEB):c.5301G>A (p.Pro1767=)
|
rs150496369
|
0.00006
|
|
NM_001164508.2(NEB):c.7441A>G (p.Arg2481Gly)
|
rs149430473
|
0.00006
|
|
NM_001164508.2(NEB):c.7953C>T (p.Ser2651=)
|
rs183764569
|
0.00006
|
|
NM_001164508.2(NEB):c.8063A>G (p.His2688Arg)
|
rs201119402
|
0.00006
|
|
NM_001164508.2(NEB):c.9055G>A (p.Ala3019Thr)
|
rs370738668
|
0.00006
|
|
NM_001164508.2(NEB):c.9468T>C (p.Ile3156=)
|
rs751747575
|
0.00006
|
|
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr)
|
rs201079458
|
0.00006
|
|
NM_001165963.4(SCN1A):c.3732G>A (p.Gln1244=)
|
rs369688121
|
0.00006
|
|
NM_001165963.4(SCN1A):c.4570C>A (p.Pro1524Thr)
|
rs143088184
|
0.00006
|
|
NM_001165963.4(SCN1A):c.80G>C (p.Arg27Thr)
|
rs121917906
|
0.00006
|
|
NM_001170629.2(CHD8):c.6473G>A (p.Arg2158His)
|
rs745375504
|
0.00006
|
|
NM_001171.6(ABCC6):c.3458G>A (p.Arg1153His)
|
rs553479685
|
0.00006
|
|
NM_001171155.2(PET100):c.197T>C (p.Leu66Pro)
|
rs570620177
|
0.00006
|
|
NM_001173990.3(TMEM216):c.123A>T (p.Ile41=)
|
rs900061092
|
0.00006
|
|
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=)
|
rs749351351
|
0.00006
|
|
NM_001174150.2(ARL13B):c.30C>T (p.Gly10=)
|
rs375770842
|
0.00006
|
|
NM_001177701.3(IFT27):c.547C>T (p.Arg183Trp)
|
rs150387982
|
0.00006
|
|
NM_001182.5(ALDH7A1):c.-13T>G
|
rs774190967
|
0.00006
|
|
NM_001182.5(ALDH7A1):c.1016A>G (p.His339Arg)
|
rs199767457
|
0.00006
|
|
NM_001195248.2(APTX):c.771-5A>G
|
rs751250105
|
0.00006
|
|
NM_001197104.2(KMT2A):c.685C>A (p.Pro229Thr)
|
rs143998546
|
0.00006
|
|
NM_001199107.2(TBC1D24):c.1525+6C>T
|
rs758013935
|
0.00006
|
|
NM_001220.5(CAMK2B):c.1556C>T (p.Pro519Leu)
|
rs776719958
|
0.00006
|
|
NM_001242896.3(DEPDC5):c.5G>A (p.Arg2Lys)
|
rs756142773
|
0.00006
|
|
NM_001243133.2(NLRP3):c.1361G>A (p.Gly454Glu)
|
rs199696688
|
0.00006
|
|
NM_001243177.4(ALDOA):c.1107C>T (p.Gly369=)
|
rs142315181
|
0.00006
|
|
NM_001244008.2(KIF1A):c.4955G>A (p.Arg1652Gln)
|
rs376658420
|
0.00006
|
|
NM_001244008.2(KIF1A):c.883-3C>T
|
rs111507743
|
0.00006
|
|
NM_001256317.3(TMPRSS3):c.915C>T (p.Ile305=)
|
rs774844255
|
0.00006
|
|
NM_001256545.2(MEGF10):c.417C>T (p.Cys139=)
|
rs148349018
|
0.00006
|
|
NM_001258392.3(CLPB):c.1140C>T (p.Asp380=)
|
rs200950385
|
0.00006
|
|
NM_001261826.3(AP3D1):c.2744C>T (p.Ala915Val)
|
rs568823322
|
0.00006
|
|
NM_001267550.2(TTN):c.101890C>A (p.Arg33964Ser)
|
rs779064623
|
0.00006
|
|
NM_001267550.2(TTN):c.102191C>T (p.Ala34064Val)
|
rs149921607
|
0.00006
|
|
NM_001267550.2(TTN):c.102540T>C (p.Ser34180=)
|
rs368844570
|
0.00006
|
|
NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln)
|
rs149391616
|
0.00006
|
|
NM_001267550.2(TTN):c.103636C>T (p.Arg34546Cys)
|
rs777626473
|
0.00006
|
|
NM_001267550.2(TTN):c.103772G>A (p.Arg34591Gln)
|
rs778021095
|
0.00006
|
|
NM_001267550.2(TTN):c.103909C>T (p.Arg34637Trp)
|
rs200716930
|
0.00006
|
|
NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr)
|
rs727504476
|
0.00006
|
|
NM_001267550.2(TTN):c.104125C>T (p.Arg34709Cys)
|
rs530959653
|
0.00006
|
|
NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val)
|
rs727505020
|
0.00006
|
|
NM_001267550.2(TTN):c.105090C>T (p.Asp35030=)
|
rs72629789
|
0.00006
|
|
NM_001267550.2(TTN):c.105413T>C (p.Met35138Thr)
|
rs771741670
|
0.00006
|
|
NM_001267550.2(TTN):c.106044C>A (p.Asn35348Lys)
|
rs145560044
|
0.00006
|
|
NM_001267550.2(TTN):c.106468T>C (p.Tyr35490His)
|
rs199663911
|
0.00006
|
|
NM_001267550.2(TTN):c.106604T>C (p.Val35535Ala)
|
rs368179478
|
0.00006
|
|
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln)
|
rs199531140
|
0.00006
|
|
NM_001267550.2(TTN):c.12821G>A (p.Ser4274Asn)
|
rs200348414
|
0.00006
|
|
NM_001267550.2(TTN):c.15185G>A (p.Ser5062Asn)
|
rs371687650
|
0.00006
|
|
NM_001267550.2(TTN):c.17302G>A (p.Asp5768Asn)
|
rs576904726
|
0.00006
|
|
NM_001267550.2(TTN):c.17686G>A (p.Glu5896Lys)
|
rs561557554
|
0.00006
|
|
NM_001267550.2(TTN):c.17821A>G (p.Ile5941Val)
|
rs397517487
|
0.00006
|
|
NM_001267550.2(TTN):c.17893T>C (p.Tyr5965His)
|
rs752226947
|
0.00006
|
|
NM_001267550.2(TTN):c.1834A>G (p.Lys612Glu)
|
rs727505256
|
0.00006
|
|
NM_001267550.2(TTN):c.18893T>C (p.Ile6298Thr)
|
rs375571785
|
0.00006
|
|
NM_001267550.2(TTN):c.19190C>T (p.Thr6397Met)
|
rs199564845
|
0.00006
|
|
NM_001267550.2(TTN):c.19541G>T (p.Trp6514Leu)
|
rs760007747
|
0.00006
|
|
NM_001267550.2(TTN):c.2032A>G (p.Thr678Ala)
|
rs878854290
|
0.00006
|
|
NM_001267550.2(TTN):c.20355G>A (p.Ser6785=)
|
rs549470227
|
0.00006
|
|
NM_001267550.2(TTN):c.21521C>T (p.Ala7174Val)
|
rs764832849
|
0.00006
|
|
NM_001267550.2(TTN):c.22241-5T>C
|
rs397517501
|
0.00006
|
|
NM_001267550.2(TTN):c.22576G>T (p.Val7526Phe)
|
rs754972548
|
0.00006
|
|
NM_001267550.2(TTN):c.22666C>T (p.Arg7556Cys)
|
rs754885396
|
0.00006
|
|
NM_001267550.2(TTN):c.23068G>A (p.Ala7690Thr)
|
rs763029699
|
0.00006
|
|
NM_001267550.2(TTN):c.24619G>A (p.Asp8207Asn)
|
rs756813056
|
0.00006
|
|
NM_001267550.2(TTN):c.2573C>T (p.Ser858Leu)
|
rs772294126
|
0.00006
|
|
NM_001267550.2(TTN):c.25942A>G (p.Lys8648Glu)
|
rs188234466
|
0.00006
|
|
NM_001267550.2(TTN):c.26056G>A (p.Gly8686Ser)
|
rs370578197
|
0.00006
|
|
NM_001267550.2(TTN):c.26281G>A (p.Gly8761Ser)
|
rs369385294
|
0.00006
|
|
NM_001267550.2(TTN):c.26468C>T (p.Thr8823Met)
|
rs368151971
|
0.00006
|
|
NM_001267550.2(TTN):c.27631T>C (p.Leu9211=)
|
rs563954136
|
0.00006
|
|
NM_001267550.2(TTN):c.27652G>T (p.Val9218Phe)
|
rs746558975
|
0.00006
|
|
NM_001267550.2(TTN):c.27709T>G (p.Ser9237Ala)
|
rs766638714
|
0.00006
|
|
NM_001267550.2(TTN):c.29577A>G (p.Gln9859=)
|
rs368780181
|
0.00006
|
|
NM_001267550.2(TTN):c.31441A>G (p.Thr10481Ala)
|
rs370208651
|
0.00006
|
|
NM_001267550.2(TTN):c.31456A>T (p.Ile10486Phe)
|
rs772882862
|
0.00006
|
|
NM_001267550.2(TTN):c.32198-10T>C
|
rs371121439
|
0.00006
|
|
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met)
|
rs368282893
|
0.00006
|
|
NM_001267550.2(TTN):c.39050A>G (p.Glu13017Gly)
|
rs368056479
|
0.00006
|
|
NM_001267550.2(TTN):c.39547+19T>C
|
rs559113689
|
0.00006
|
|
NM_001267550.2(TTN):c.39885G>A (p.Pro13295=)
|
rs756518824
|
0.00006
|
|
NM_001267550.2(TTN):c.4049G>A (p.Arg1350His)
|
rs539470256
|
0.00006
|
|
NM_001267550.2(TTN):c.41812A>G (p.Met13938Val)
|
rs201725483
|
0.00006
|
|
NM_001267550.2(TTN):c.4247G>A (p.Arg1416His)
|
rs750278602
|
0.00006
|
|
NM_001267550.2(TTN):c.42509T>C (p.Met14170Thr)
|
rs369623392
|
0.00006
|
|
NM_001267550.2(TTN):c.43986T>G (p.Asp14662Glu)
|
rs201390600
|
0.00006
|
|
NM_001267550.2(TTN):c.44456C>T (p.Thr14819Ile)
|
rs778014249
|
0.00006
|
|
NM_001267550.2(TTN):c.44848G>A (p.Asp14950Asn)
|
rs571524382
|
0.00006
|
|
NM_001267550.2(TTN):c.44978G>A (p.Gly14993Glu)
|
rs200931793
|
0.00006
|
|
NM_001267550.2(TTN):c.4709G>C (p.Gly1570Ala)
|
rs199910114
|
0.00006
|
|
NM_001267550.2(TTN):c.47598A>G (p.Leu15866=)
|
rs879099244
|
0.00006
|
|
NM_001267550.2(TTN):c.48589C>T (p.Arg16197Cys)
|
rs748917057
|
0.00006
|
|
NM_001267550.2(TTN):c.48595T>C (p.Ser16199Pro)
|
rs752629624
|
0.00006
|
|
NM_001267550.2(TTN):c.49367G>A (p.Arg16456His)
|
rs768914789
|
0.00006
|
|
NM_001267550.2(TTN):c.49406T>A (p.Leu16469His)
|
rs72677245
|
0.00006
|
|
NM_001267550.2(TTN):c.49758T>C (p.Tyr16586=)
|
rs72677247
|
0.00006
|
|
NM_001267550.2(TTN):c.49801G>T (p.Val16601Leu)
|
rs773271774
|
0.00006
|
|
NM_001267550.2(TTN):c.5073A>T (p.Glu1691Asp)
|
rs770902874
|
0.00006
|
|
NM_001267550.2(TTN):c.51704G>A (p.Arg17235Gln)
|
rs573695008
|
0.00006
|
|
NM_001267550.2(TTN):c.52139A>T (p.Asp17380Val)
|
rs373305248
|
0.00006
|
|
NM_001267550.2(TTN):c.52199A>C (p.Glu17400Ala)
|
rs773027240
|
0.00006
|
|
NM_001267550.2(TTN):c.53295T>C (p.Pro17765=)
|
rs771792080
|
0.00006
|
|
NM_001267550.2(TTN):c.54517C>T (p.Pro18173Ser)
|
rs766074604
|
0.00006
|
|
NM_001267550.2(TTN):c.55037G>T (p.Arg18346Ile)
|
rs573136400
|
0.00006
|
|
NM_001267550.2(TTN):c.55139T>C (p.Ile18380Thr)
|
rs72646819
|
0.00006
|
|
NM_001267550.2(TTN):c.55784C>G (p.Thr18595Arg)
|
rs770499179
|
0.00006
|
|
NM_001267550.2(TTN):c.55809G>A (p.Pro18603=)
|
rs750472100
|
0.00006
|
|
NM_001267550.2(TTN):c.56911G>A (p.Val18971Met)
|
rs373153121
|
0.00006
|
|
NM_001267550.2(TTN):c.56943G>A (p.Ala18981=)
|
rs370998052
|
0.00006
|
|
NM_001267550.2(TTN):c.57382A>G (p.Met19128Val)
|
rs138367112
|
0.00006
|
|
NM_001267550.2(TTN):c.5740G>A (p.Ala1914Thr)
|
rs118161093
|
0.00006
|
|
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val)
|
rs397517630
|
0.00006
|
|
NM_001267550.2(TTN):c.59474G>C (p.Arg19825Thr)
|
rs376465623
|
0.00006
|
|
NM_001267550.2(TTN):c.60654G>A (p.Thr20218=)
|
rs776141268
|
0.00006
|
|
NM_001267550.2(TTN):c.61099C>T (p.Arg20367Trp)
|
rs727504479
|
0.00006
|
|
NM_001267550.2(TTN):c.61592G>A (p.Arg20531His)
|
rs370887455
|
0.00006
|
|
NM_001267550.2(TTN):c.61696G>A (p.Val20566Ile)
|
rs764777213
|
0.00006
|
|
NM_001267550.2(TTN):c.62844T>G (p.Pro20948=)
|
rs770335539
|
0.00006
|
|
NM_001267550.2(TTN):c.63132T>C (p.Ile21044=)
|
rs561183059
|
0.00006
|
|
NM_001267550.2(TTN):c.63581T>C (p.Leu21194Pro)
|
rs367838375
|
0.00006
|
|
NM_001267550.2(TTN):c.63877G>A (p.Asp21293Asn)
|
rs199505416
|
0.00006
|
|
NM_001267550.2(TTN):c.64175G>A (p.Arg21392His)
|
rs777176324
|
0.00006
|
|
NM_001267550.2(TTN):c.6420T>A (p.Asp2140Glu)
|
rs777009984
|
0.00006
|
|
NM_001267550.2(TTN):c.64673-5T>C
|
rs530496528
|
0.00006
|
|
NM_001267550.2(TTN):c.64734C>T (p.Ser21578=)
|
rs773855604
|
0.00006
|
|
NM_001267550.2(TTN):c.65093G>T (p.Arg21698Leu)
|
rs371581072
|
0.00006
|
|
NM_001267550.2(TTN):c.65389T>G (p.Cys21797Gly)
|
rs375830234
|
0.00006
|
|
NM_001267550.2(TTN):c.67014C>A (p.Asn22338Lys)
|
rs761241302
|
0.00006
|
|
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met)
|
rs201284459
|
0.00006
|
|
NM_001267550.2(TTN):c.68208T>A (p.Val22736=)
|
rs727503575
|
0.00006
|
|
NM_001267550.2(TTN):c.68981C>T (p.Thr22994Ile)
|
rs183056142
|
0.00006
|
|
NM_001267550.2(TTN):c.69251G>A (p.Arg23084Gln)
|
rs200191748
|
0.00006
|
|
NM_001267550.2(TTN):c.69412+4T>G
|
rs761388922
|
0.00006
|
|
NM_001267550.2(TTN):c.6950G>A (p.Arg2317His)
|
rs764882950
|
0.00006
|
|
NM_001267550.2(TTN):c.70645G>A (p.Val23549Ile)
|
rs755669336
|
0.00006
|
|
NM_001267550.2(TTN):c.70950C>G (p.Asn23650Lys)
|
rs377185608
|
0.00006
|
|
NM_001267550.2(TTN):c.71149G>T (p.Asp23717Tyr)
|
rs371818894
|
0.00006
|
|
NM_001267550.2(TTN):c.72992G>A (p.Arg24331His)
|
rs755174224
|
0.00006
|
|
NM_001267550.2(TTN):c.73847G>A (p.Arg24616Gln)
|
rs201694149
|
0.00006
|
|
NM_001267550.2(TTN):c.74504A>G (p.Tyr24835Cys)
|
rs201724962
|
0.00006
|
|
NM_001267550.2(TTN):c.75458C>T (p.Ser25153Leu)
|
rs368058280
|
0.00006
|
|
NM_001267550.2(TTN):c.76566_76568dup (p.Arg25523dup)
|
rs772268958
|
0.00006
|
|
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His)
|
rs369707906
|
0.00006
|
|
NM_001267550.2(TTN):c.77654T>C (p.Ile25885Thr)
|
rs199514898
|
0.00006
|
|
NM_001267550.2(TTN):c.77749T>C (p.Tyr25917His)
|
rs370137092
|
0.00006
|
|
NM_001267550.2(TTN):c.79780C>A (p.Leu26594Ile)
|
rs759737599
|
0.00006
|
|
NM_001267550.2(TTN):c.80462C>T (p.Pro26821Leu)
|
rs200489046
|
0.00006
|
|
NM_001267550.2(TTN):c.80720C>A (p.Pro26907Gln)
|
rs375693686
|
0.00006
|
|
NM_001267550.2(TTN):c.80944T>C (p.Phe26982Leu)
|
rs200406978
|
0.00006
|
|
NM_001267550.2(TTN):c.81758A>G (p.Asn27253Ser)
|
rs529055709
|
0.00006
|
|
NM_001267550.2(TTN):c.83081G>A (p.Arg27694His)
|
rs775499341
|
0.00006
|
|
NM_001267550.2(TTN):c.83600C>G (p.Pro27867Arg)
|
rs374119634
|
0.00006
|
|
NM_001267550.2(TTN):c.84652G>A (p.Gly28218Ser)
|
rs727504693
|
0.00006
|
|
NM_001267550.2(TTN):c.85115G>A (p.Gly28372Glu)
|
rs190721759
|
0.00006
|
|
NM_001267550.2(TTN):c.85316G>A (p.Arg28439Gln)
|
rs764437671
|
0.00006
|
|
NM_001267550.2(TTN):c.86700C>T (p.Asn28900=)
|
rs727504793
|
0.00006
|
|
NM_001267550.2(TTN):c.89520C>T (p.Asp29840=)
|
rs746569192
|
0.00006
|
|
NM_001267550.2(TTN):c.919G>A (p.Val307Met)
|
rs371056974
|
0.00006
|
|
NM_001267550.2(TTN):c.92590G>A (p.Asp30864Asn)
|
rs200621611
|
0.00006
|
|
NM_001267550.2(TTN):c.93031G>A (p.Val31011Met)
|
rs369206712
|
0.00006
|
|
NM_001267550.2(TTN):c.93131G>T (p.Gly31044Val)
|
rs570464905
|
0.00006
|
|
NM_001267550.2(TTN):c.93179G>A (p.Arg31060His)
|
rs776018262
|
0.00006
|
|
NM_001267550.2(TTN):c.93254C>T (p.Pro31085Leu)
|
rs549841864
|
0.00006
|
|
NM_001267550.2(TTN):c.93323T>C (p.Ile31108Thr)
|
rs373732722
|
0.00006
|
|
NM_001267550.2(TTN):c.93442T>C (p.Tyr31148His)
|
rs373131310
|
0.00006
|
|
NM_001267550.2(TTN):c.9348C>G (p.Ile3116Met)
|
rs760230943
|
0.00006
|
|
NM_001267550.2(TTN):c.94016C>T (p.Thr31339Ile)
|
rs184078016
|
0.00006
|
|
NM_001267550.2(TTN):c.95078C>A (p.Ala31693Asp)
|
rs2288326
|
0.00006
|
|
NM_001267550.2(TTN):c.96230G>A (p.Arg32077Gln)
|
rs369835255
|
0.00006
|
|
NM_001267550.2(TTN):c.96389C>T (p.Thr32130Met)
|
rs368998895
|
0.00006
|
|
NM_001267550.2(TTN):c.9639C>T (p.Ser3213=)
|
rs760666570
|
0.00006
|
|
NM_001267550.2(TTN):c.96637G>A (p.Asp32213Asn)
|
rs764561909
|
0.00006
|
|
NM_001267550.2(TTN):c.9674A>G (p.Asn3225Ser)
|
rs202011992
|
0.00006
|
|
NM_001267550.2(TTN):c.97331G>C (p.Arg32444Pro)
|
rs184922462
|
0.00006
|
|
NM_001267550.2(TTN):c.97579G>A (p.Gly32527Ser)
|
rs762160311
|
0.00006
|
|
NM_001267550.2(TTN):c.97643G>A (p.Arg32548His)
|
rs55676195
|
0.00006
|
|
NM_001271.4(CHD2):c.4534C>T (p.Arg1512Trp)
|
rs755898320
|
0.00006
|
|
NM_001271938.2(MEGF8):c.6500C>T (p.Pro2167Leu)
|
rs372350131
|
0.00006
|
|
NM_001276345.2(TNNT2):c.601-8C>T
|
rs397516475
|
0.00006
|
|
NM_001277115.2(DNAH11):c.1147C>T (p.Arg383Trp)
|
rs200648006
|
0.00006
|
|
NM_001277115.2(DNAH11):c.1711-4A>T
|
rs372207653
|
0.00006
|
|
NM_001277115.2(DNAH11):c.2328G>A (p.Thr776=)
|
rs372387032
|
0.00006
|
|
NM_001277115.2(DNAH11):c.5622-7C>A
|
rs727503901
|
0.00006
|
|
NM_001277115.2(DNAH11):c.9280G>A (p.Glu3094Lys)
|
rs368259931
|
0.00006
|
|
NM_001278116.2(L1CAM):c.1107C>T (p.Asn369=)
|
rs200768501
|
0.00006
|
|
NM_001278512.2(AP3B2):c.3015G>A (p.Gln1005=)
|
rs766114944
|
0.00006
|
|
NM_001286577.2(C2CD3):c.1964C>A (p.Pro655Gln)
|
rs555646012
|
0.00006
|
|
NM_001286577.2(C2CD3):c.2594C>G (p.Ser865Cys)
|
rs148264086
|
0.00006
|
|
NM_001288705.3(CSF1R):c.2129G>A (p.Arg710His)
|
rs201569135
|
0.00006
|
|
NM_001291303.3(FAT4):c.12499G>A (p.Ala4167Thr)
|
rs369432764
|
0.00006
|
|
NM_001291303.3(FAT4):c.2273C>T (p.Ala758Val)
|
rs570502199
|
0.00006
|
|
NM_001292063.2(OTOG):c.5813C>T (p.Thr1938Met)
|
rs758489218
|
0.00006
|
|
NM_001292063.2(OTOG):c.6405C>T (p.Thr2135=)
|
rs187255209
|
0.00006
|
|
NM_001303.4(COX10):c.260C>T (p.Thr87Ile)
|
rs144000161
|
0.00006
|
|
NM_001323289.2(CDKL5):c.1564T>G (p.Leu522Val)
|
rs781427744
|
0.00006
|
|
NM_001330078.2(NRXN1):c.1688T>C (p.Ile563Thr)
|
rs201837579
|
0.00006
|
|
NM_001330078.2(NRXN1):c.1749C>T (p.Asp583=)
|
rs199934259
|
0.00006
|
|
NM_001330078.2(NRXN1):c.2253A>G (p.Ala751=)
|
rs199648817
|
0.00006
|
|
NM_001330078.2(NRXN1):c.339C>T (p.Ala113=)
|
rs767682431
|
0.00006
|
|
NM_001330078.2(NRXN1):c.4004C>T (p.Thr1335Ile)
|
rs200672080
|
0.00006
|
|
NM_001330078.2(NRXN1):c.4248G>A (p.Pro1416=)
|
rs151195816
|
0.00006
|
|
NM_001330260.2(SCN8A):c.3135C>T (p.Ile1045=)
|
rs550579591
|
0.00006
|
|
NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln)
|
rs369346315
|
0.00006
|
|
NM_001347721.2(DYRK1A):c.1762G>A (p.Ala588Thr)
|
rs200808105
|
0.00006
|
|
NM_001348768.2(HECW2):c.1240G>C (p.Asp414His)
|
rs764436402
|
0.00006
|
|
NM_001352514.2(HLCS):c.2352C>T (p.Ile784=)
|
rs150263699
|
0.00006
|
|
NM_001353921.2(ARHGEF9):c.351G>A (p.Glu117=)
|
rs373866956
|
0.00006
|
|
NM_001358530.2(MOCS1):c.1468C>T (p.Arg490Trp)
|
rs201889779
|
0.00006
|
|
NM_001358921.2(COQ2):c.1100A>G (p.Asn367Ser)
|
rs745619253
|
0.00006
|
|
NM_001360.3(DHCR7):c.1011C>T (p.Ala337=)
|
rs369382960
|
0.00006
|
|
NM_001360.3(DHCR7):c.522C>T (p.Phe174=)
|
rs140648594
|
0.00006
|
|
NM_001360.3(DHCR7):c.957G>A (p.Thr319=)
|
rs200157761
|
0.00006
|
|
NM_001363.5(DKC1):c.1167G>A (p.Lys389=)
|
rs369066088
|
0.00006
|
|
NM_001363711.2(DUOX2):c.1933G>T (p.Asp645Tyr)
|
rs773358950
|
0.00006
|
|
NM_001365276.2(TNXB):c.147G>A (p.Gly49=)
|
rs370126465
|
0.00006
|
|
NM_001365276.2(TNXB):c.5780T>C (p.Ile1927Thr)
|
rs751320202
|
0.00006
|
|
NM_001365276.2(TNXB):c.6362G>A (p.Arg2121His)
|
rs778533848
|
0.00006
|
|
NM_001365276.2(TNXB):c.7513G>A (p.Glu2505Lys)
|
rs61731831
|
0.00006
|
|
NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met)
|
rs41268671
|
0.00006
|
|
NM_001365536.1(SCN9A):c.5379G>A (p.Ala1793=)
|
rs201875421
|
0.00006
|
|
NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val)
|
rs199822303
|
0.00006
|
|
NM_001365536.1(SCN9A):c.642A>G (p.Arg214=)
|
rs376908183
|
0.00006
|
|
NM_001365951.3(KIF1B):c.85C>G (p.Gln29Glu)
|
rs760368705
|
0.00006
|
|
NM_001365999.1(SZT2):c.9938C>T (p.Ala3313Val)
|
rs201695619
|
0.00006
|
|
NM_001367624.2(ZNF469):c.11221G>A (p.Gly3741Ser)
|
rs745385522
|
0.00006
|
|
NM_001367624.2(ZNF469):c.1663G>A (p.Asp555Asn)
|
rs749179728
|
0.00006
|
|
NM_001367624.2(ZNF469):c.2119C>T (p.Arg707Cys)
|
rs188954563
|
0.00006
|
|
NM_001367624.2(ZNF469):c.2345T>C (p.Val782Ala)
|
rs535983876
|
0.00006
|
|
NM_001367624.2(ZNF469):c.4463C>T (p.Pro1488Leu)
|
rs565994438
|
0.00006
|
|
NM_001367624.2(ZNF469):c.5206G>A (p.Gly1736Arg)
|
rs796410888
|
0.00006
|
|
NM_001367624.2(ZNF469):c.6236C>T (p.Ser2079Phe)
|
rs765190704
|
0.00006
|
|
NM_001367624.2(ZNF469):c.7090G>A (p.Ala2364Thr)
|
rs957383204
|
0.00006
|
|
NM_001367624.2(ZNF469):c.8590C>G (p.Pro2864Ala)
|
rs751901105
|
0.00006
|
|
NM_001367721.1(CASK):c.1315-10A>G
|
rs375004542
|
0.00006
|
|
NM_001368067.1(LDB3):c.415G>A (p.Glu139Lys)
|
rs374613600
|
0.00006
|
|
NM_001368894.2(PAX6):c.-368G>A
|
rs886048206
|
0.00006
|
|
NM_001369.3(DNAH5):c.10347C>T (p.Ala3449=)
|
rs150773884
|
0.00006
|
|
NM_001369.3(DNAH5):c.1290A>G (p.Glu430=)
|
rs990691780
|
0.00006
|
|
NM_001369.3(DNAH5):c.13689G>C (p.Leu4563Phe)
|
rs374221053
|
0.00006
|
|
NM_001369.3(DNAH5):c.1436G>A (p.Arg479His)
|
rs150601733
|
0.00006
|
|
NM_001369.3(DNAH5):c.1958C>T (p.Thr653Met)
|
rs201020293
|
0.00006
|
|
NM_001369.3(DNAH5):c.2708A>C (p.Asn903Thr)
|
rs749503841
|
0.00006
|
|
NM_001369.3(DNAH5):c.2861A>C (p.Glu954Ala)
|
rs753696648
|
0.00006
|
|
NM_001369.3(DNAH5):c.3656G>A (p.Arg1219His)
|
rs73055857
|
0.00006
|
|
NM_001369.3(DNAH5):c.3895G>T (p.Val1299Phe)
|
rs767853104
|
0.00006
|
|
NM_001369.3(DNAH5):c.660+9G>A
|
rs762915801
|
0.00006
|
|
NM_001369.3(DNAH5):c.6747C>T (p.Phe2249=)
|
rs568499996
|
0.00006
|
|
NM_001369.3(DNAH5):c.7091G>C (p.Gly2364Ala)
|
rs373657849
|
0.00006
|
|
NM_001369.3(DNAH5):c.7741A>G (p.Lys2581Glu)
|
rs142302585
|
0.00006
|
|
NM_001369.3(DNAH5):c.7752+3A>G
|
rs200385399
|
0.00006
|
|
NM_001369.3(DNAH5):c.8398G>A (p.Val2800Ile)
|
rs770453841
|
0.00006
|
|
NM_001371928.1(AHDC1):c.304G>A (p.Gly102Arg)
|
rs752038684
|
0.00006
|
|
NM_001371986.1(UNC80):c.4763G>A (p.Arg1588Gln)
|
rs182597438
|
0.00006
|
|
NM_001374353.1(GLI2):c.1120C>T (p.Arg374Cys)
|
rs200076785
|
0.00006
|
|
NM_001374736.1(DST):c.15489G>C (p.Glu5163Asp)
|
rs186788522
|
0.00006
|
|
NM_001374828.1(ARID1B):c.1379G>T (p.Gly460Val)
|
rs1274183370
|
0.00006
|
|
NM_001374828.1(ARID1B):c.2142G>A (p.Met714Ile)
|
rs142897795
|
0.00006
|
|
NM_001374828.1(ARID1B):c.4478C>T (p.Pro1493Leu)
|
rs367809905
|
0.00006
|
|
NM_001374828.1(ARID1B):c.5672C>T (p.Pro1891Leu)
|
rs142466273
|
0.00006
|
|
NM_001375808.2(LPIN2):c.1888G>A (p.Gly630Ser)
|
rs148607670
|
0.00006
|
|
NM_001376.5(DYNC1H1):c.13072G>A (p.Ala4358Thr)
|
rs547205132
|
0.00006
|
|
NM_001376.5(DYNC1H1):c.9155A>G (p.Lys3052Arg)
|
rs774806132
|
0.00006
|
|
NM_001376256.1(CRYM):c.761C>T (p.Ala254Val)
|
rs727505275
|
0.00006
|
|
NM_001377.3(DYNC2H1):c.2005A>G (p.Lys669Glu)
|
rs189533535
|
0.00006
|
|
NM_001377.3(DYNC2H1):c.954A>G (p.Lys318=)
|
rs778594253
|
0.00006
|
|
NM_001378418.1(TCF20):c.4369G>A (p.Gly1457Arg)
|
rs761096672
|
0.00006
|
|
NM_001378452.1(ITPR1):c.4572C>T (p.Gly1524=)
|
rs200605212
|
0.00006
|
|
NM_001378454.1(ALMS1):c.1548C>G (p.Asp516Glu)
|
rs202002052
|
0.00006
|
|
NM_001378454.1(ALMS1):c.5827C>T (p.Arg1943Cys)
|
rs370398704
|
0.00006
|
|
NM_001378454.1(ALMS1):c.6458A>G (p.Gln2153Arg)
|
rs534635095
|
0.00006
|
|
NM_001378609.3(OTOGL):c.4861-3T>C
|
rs769803656
|
0.00006
|
|
NM_001378615.1(CC2D2A):c.1689C>T (p.His563=)
|
rs755367503
|
0.00006
|
|
NM_001378615.1(CC2D2A):c.647C>T (p.Ala216Val)
|
rs768733110
|
0.00006
|
|
NM_001378778.1(MPDZ):c.2776G>A (p.Ala926Thr)
|
rs144992780
|
0.00006
|
|
NM_001378964.1(CDON):c.1069C>A (p.Arg357=)
|
rs200614048
|
0.00006
|
|
NM_001378964.1(CDON):c.2836T>C (p.Leu946=)
|
rs144054280
|
0.00006
|
|
NM_001378964.1(CDON):c.3574G>A (p.Asp1192Asn)
|
rs181749265
|
0.00006
|
|
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe)
|
rs150401343
|
0.00006
|
|
NM_001379081.2(FREM1):c.4879G>T (p.Ala1627Ser)
|
rs370198850
|
0.00006
|
|
NM_001379180.1(ESRRB):c.924C>A (p.Gly308=)
|
rs148356050
|
0.00006
|
|
NM_001379200.1(TBX1):c.1352G>C (p.Arg451Pro)
|
rs755937050
|
0.00006
|
|
NM_001382430.1(AKT1):c.1394G>A (p.Arg465His)
|
rs113547523
|
0.00006
|
|
NM_001384125.1(BLTP1):c.3221A>G (p.Asn1074Ser)
|
rs202171900
|
0.00006
|
|
NM_001384140.1(PCDH15):c.3225T>C (p.Asn1075=)
|
rs746404657
|
0.00006
|
|
NM_001384140.1(PCDH15):c.3501+6C>T
|
rs370178425
|
0.00006
|
|
NM_001384140.1(PCDH15):c.3807-6T>G
|
rs727504791
|
0.00006
|
|
NM_001384140.1(PCDH15):c.3936A>G (p.Ala1312=)
|
rs398124433
|
0.00006
|
|
NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=)
|
rs533251927
|
0.00006
|
|
NM_001384474.1(LOXHD1):c.4376-6G>A
|
rs369463541
|
0.00006
|
|
NM_001384474.1(LOXHD1):c.4741-11C>G
|
rs181095005
|
0.00006
|
|
NM_001384474.1(LOXHD1):c.6252C>T (p.His2084=)
|
rs753440039
|
0.00006
|
|
NM_001384479.1(AGT):c.1345C>T (p.Arg449Cys)
|
rs375261929
|
0.00006
|
|
NM_001386140.1(MTTP):c.915G>A (p.Ser305=)
|
rs199716549
|
0.00006
|
|
NM_001387430.1(SH2B1):c.1898-252G>A
|
rs769627655
|
0.00006
|
|
NM_001395413.1(POR):c.229-5C>T
|
rs782035827
|
0.00006
|
|
NM_001395413.1(POR):c.420C>T (p.Tyr140=)
|
rs368468521
|
0.00006
|
|
NM_001395413.1(POR):c.504C>T (p.Phe168=)
|
rs372715546
|
0.00006
|
|
NM_001429.4(EP300):c.4214G>A (p.Arg1405His)
|
rs138855106
|
0.00006
|
|
NM_001429.4(EP300):c.5957C>T (p.Pro1986Leu)
|
rs144626200
|
0.00006
|
|
NM_001457.4(FLNB):c.1688T>C (p.Ile563Thr)
|
rs145891515
|
0.00006
|
|
NM_001457.4(FLNB):c.3138C>T (p.His1046=)
|
rs371901421
|
0.00006
|
|
NM_001457.4(FLNB):c.5380G>A (p.Gly1794Arg)
|
rs149600652
|
0.00006
|
|
NM_001457.4(FLNB):c.5843G>A (p.Arg1948Gln)
|
rs143752722
|
0.00006
|
|
NM_001457.4(FLNB):c.7164C>T (p.Ser2388=)
|
rs757418085
|
0.00006
|
|
NM_001458.5(FLNC):c.3887C>T (p.Ser1296Leu)
|
rs747587140
|
0.00006
|
|
NM_001458.5(FLNC):c.5468C>T (p.Thr1823Met)
|
rs140857707
|
0.00006
|
|
NM_001458.5(FLNC):c.5944C>T (p.Arg1982Cys)
|
rs538779271
|
0.00006
|
|
NM_001458.5(FLNC):c.6134G>A (p.Arg2045Gln)
|
rs747196571
|
0.00006
|
|
NM_001458.5(FLNC):c.7090C>T (p.Arg2364Cys)
|
rs374973240
|
0.00006
|
|
NM_001458.5(FLNC):c.7366G>A (p.Val2456Ile)
|
rs770796119
|
0.00006
|
|
NM_001498.4(GCLC):c.1486G>T (p.Ala496Ser)
|
rs147154581
|
0.00006
|
|
NM_001540.5(HSPB1):c.210G>A (p.Ala70=)
|
rs749963653
|
0.00006
|
|
NM_001614.5(ACTG1):c.124-9C>T
|
rs376850595
|
0.00006
|
|
NM_001673.5(ASNS):c.1464C>T (p.Tyr488=)
|
rs768064875
|
0.00006
|
|
NM_001793.6(CDH3):c.1704G>A (p.Thr568=)
|
rs561193756
|
0.00006
|
|
NM_001844.5(COL2A1):c.1364C>T (p.Thr455Met)
|
rs775754967
|
0.00006
|
|
NM_001844.5(COL2A1):c.3435+18C>T
|
rs375024988
|
0.00006
|
|
NM_001844.5(COL2A1):c.4136G>A (p.Arg1379His)
|
rs754487319
|
0.00006
|
|
NM_001846.4(COL4A2):c.1957G>A (p.Ala653Thr)
|
rs199875726
|
0.00006
|
|
NM_001846.4(COL4A2):c.965G>A (p.Arg322Gln)
|
rs201640075
|
0.00006
|
|
NM_001848.3(COL6A1):c.2355C>A (p.Gly785=)
|
rs149910296
|
0.00006
|
|
NM_001848.3(COL6A1):c.2911G>A (p.Val971Met)
|
rs769795690
|
0.00006
|
|
NM_001848.3(COL6A1):c.357G>A (p.Ala119=)
|
rs747037863
|
0.00006
|
|
NM_001849.4(COL6A2):c.188C>T (p.Thr63Met)
|
rs201094892
|
0.00006
|
|
NM_001849.4(COL6A2):c.2634G>A (p.Ala878=)
|
rs143749884
|
0.00006
|
|
NM_001849.4(COL6A2):c.2707G>A (p.Glu903Lys)
|
rs373611722
|
0.00006
|
|
NM_001849.4(COL6A2):c.356T>C (p.Ile119Thr)
|
rs374011338
|
0.00006
|
|
NM_001851.6(COL9A1):c.1504-3C>T
|
rs533952787
|
0.00006
|
|
NM_001851.6(COL9A1):c.635T>C (p.Ile212Thr)
|
rs141776183
|
0.00006
|
|
NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu)
|
rs201847956
|
0.00006
|
|
NM_001853.4(COL9A3):c.1748G>A (p.Arg583His)
|
rs201219004
|
0.00006
|
|
NM_001854.4(COL11A1):c.3600+8G>A
|
rs188045535
|
0.00006
|
|
NM_001854.4(COL11A1):c.3984A>G (p.Gln1328=)
|
rs767276283
|
0.00006
|
|
NM_001854.4(COL11A1):c.4193A>C (p.Gln1398Pro)
|
rs775587076
|
0.00006
|
|
NM_001875.5(CPS1):c.1478C>T (p.Thr493Ile)
|
rs199878637
|
0.00006
|
|
NM_001875.5(CPS1):c.1627G>A (p.Ala543Thr)
|
rs142369181
|
0.00006
|
|
NM_001875.5(CPS1):c.4173G>A (p.Thr1391=)
|
rs201710257
|
0.00006
|
|
NM_001876.4(CPT1A):c.598A>G (p.Lys200Glu)
|
rs201425412
|
0.00006
|
|
NM_001909.5(CTSD):c.111G>A (p.Ser37=)
|
rs535140505
|
0.00006
|
|
NM_001909.5(CTSD):c.267C>G (p.Pro89=)
|
rs139154882
|
0.00006
|
|
NM_001918.5(DBT):c.1281+5A>G
|
rs199571242
|
0.00006
|
|
NM_001931.5(DLAT):c.583C>T (p.Pro195Ser)
|
rs149440666
|
0.00006
|
|
NM_001943.5(DSG2):c.15G>C (p.Pro5=)
|
rs772663614
|
0.00006
|
|
NM_001943.5(DSG2):c.1643G>A (p.Arg548His)
|
rs551034751
|
0.00006
|
|
NM_001943.5(DSG2):c.1847C>T (p.Ala616Val)
|
rs375527314
|
0.00006
|
|
NM_001943.5(DSG2):c.513G>T (p.Leu171Phe)
|
rs199926617
|
0.00006
|
|
NM_001953.5(TYMP):c.874C>G (p.Leu292Val)
|
rs750707642
|
0.00006
|
|
NM_001966.4(EHHADH):c.298G>A (p.Gly100Arg)
|
rs768718791
|
0.00006
|
|
NM_001987.5(ETV6):c.1133G>A (p.Arg378Gln)
|
rs146280653
|
0.00006
|
|
NM_001999.4(FBN2):c.2508G>A (p.Thr836=)
|
rs372872626
|
0.00006
|
|
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser)
|
rs199910288
|
0.00006
|
|
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser)
|
rs374507398
|
0.00006
|
|
NM_001999.4(FBN2):c.8086G>A (p.Val2696Met)
|
rs373994051
|
0.00006
|
|
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile)
|
rs369894731
|
0.00006
|
|
NM_002055.5(GFAP):c.1171+474G>A
|
rs370385098
|
0.00006
|
|
NM_002103.5(GYS1):c.1332C>T (p.Cys444=)
|
rs377125421
|
0.00006
|
|
NM_002180.3(IGHMBP2):c.2668G>A (p.Ala890Thr)
|
rs138607722
|
0.00006
|
|
NM_002180.3(IGHMBP2):c.2674A>G (p.Lys892Glu)
|
rs201970407
|
0.00006
|
|
NM_002185.5(IL7R):c.1007A>G (p.Glu336Gly)
|
rs770237630
|
0.00006
|
|
NM_002225.5(IVD):c.784+13G>A
|
rs369694967
|
0.00006
|
|
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys)
|
rs531732438
|
0.00006
|
|
NM_002230.4(JUP):c.1912A>C (p.Asn638His)
|
rs782658008
|
0.00006
|
|
NM_002230.4(JUP):c.2167_2172del (p.Asp723_Tyr724del)
|
rs782439900
|
0.00006
|
|
NM_002230.4(JUP):c.530G>A (p.Arg177Gln)
|
rs371481933
|
0.00006
|
|
NM_002230.4(JUP):c.568G>A (p.Val190Met)
|
rs370143312
|
0.00006
|
|
NM_002230.4(JUP):c.778G>A (p.Ala260Thr)
|
rs149623442
|
0.00006
|
|
NM_002241.5(KCNJ10):c.1047C>T (p.Tyr349=)
|
rs368537434
|
0.00006
|
|
NM_002292.4(LAMB2):c.915+6G>A
|
rs2071677
|
0.00006
|
|
NM_002335.4(LRP5):c.4272C>T (p.His1424=)
|
rs145226802
|
0.00006
|
|
NM_002386.4(MC1R):c.325C>T (p.Arg109Trp)
|
rs546618600
|
0.00006
|
|
NM_002397.5(MEF2C):c.759A>G (p.Pro253=)
|
rs368575766
|
0.00006
|
|
NM_002435.3(MPI):c.1269G>A (p.Leu423=)
|
rs371664469
|
0.00006
|
|
NM_002435.3(MPI):c.61A>G (p.Met21Val)
|
rs376746368
|
0.00006
|
|
NM_002439.5(MSH3):c.1258A>G (p.Ser420Gly)
|
rs55660516
|
0.00006
|
|
NM_002471.4(MYH6):c.1702C>T (p.Arg568Cys)
|
rs149650190
|
0.00006
|
|
NM_002471.4(MYH6):c.3787G>A (p.Val1263Met)
|
rs375819633
|
0.00006
|
|
NM_002471.4(MYH6):c.4991G>A (p.Arg1664His)
|
rs778287981
|
0.00006
|
|
NM_002473.6(MYH9):c.2907C>T (p.Thr969=)
|
rs767461889
|
0.00006
|
|
NM_002473.6(MYH9):c.3676C>T (p.Arg1226Trp)
|
rs375797448
|
0.00006
|
|
NM_002473.6(MYH9):c.4050G>C (p.Glu1350Asp)
|
rs375955867
|
0.00006
|
|
NM_002473.6(MYH9):c.4753A>C (p.Lys1585Gln)
|
rs149169068
|
0.00006
|
|
NM_002473.6(MYH9):c.5456T>G (p.Leu1819Arg)
|
rs368440234
|
0.00006
|
|
NM_002474.3(MYH11):c.1913C>T (p.Ser638Leu)
|
rs771128441
|
0.00006
|
|
NM_002474.3(MYH11):c.3235G>A (p.Ala1079Thr)
|
rs140479999
|
0.00006
|
|
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=)
|
rs190546350
|
0.00006
|
|
NM_002474.3(MYH11):c.4096A>G (p.Ile1366Val)
|
rs147127121
|
0.00006
|
|
NM_002474.3(MYH11):c.5666C>T (p.Ala1889Val)
|
rs369950711
|
0.00006
|
|
NM_002485.5(NBN):c.1398-10T>A
|
rs539960851
|
0.00006
|
|
NM_002506.3(NGF):c.552C>T (p.Pro184=)
|
rs532714783
|
0.00006
|
|
NM_002529.4(NTRK1):c.1522C>A (p.Arg508=)
|
rs200575096
|
0.00006
|
|
NM_002529.4(NTRK1):c.2113A>T (p.Thr705Ser)
|
rs200935209
|
0.00006
|
|
NM_002529.4(NTRK1):c.2231G>A (p.Arg744His)
|
rs751281792
|
0.00006
|
|
NM_002529.4(NTRK1):c.470G>A (p.Arg157His)
|
rs141021604
|
0.00006
|
|
NM_002529.4(NTRK1):c.575-15G>A
|
rs762788551
|
0.00006
|
|
NM_002529.4(NTRK1):c.850+11G>A
|
rs372293237
|
0.00006
|
|
NM_002609.4(PDGFRB):c.2705C>T (p.Thr902Ile)
|
rs200865355
|
0.00006
|
|
NM_002617.4(PEX10):c.555C>T (p.His185=)
|
rs75377471
|
0.00006
|
|
NM_002617.4(PEX10):c.752T>C (p.Leu251Pro)
|
rs780507609
|
0.00006
|
|
NM_002618.4(PEX13):c.408T>A (p.Ile136=)
|
rs145776973
|
0.00006
|
|
NM_002633.3(PGM1):c.442T>G (p.Phe148Val)
|
rs755467080
|
0.00006
|
|
NM_002637.4(PHKA1):c.3149G>A (p.Arg1050His)
|
rs782453258
|
0.00006
|
|
NM_002691.4(POLD1):c.1562G>A (p.Arg521Gln)
|
rs143076166
|
0.00006
|
|
NM_002691.4(POLD1):c.17G>A (p.Arg6Gln)
|
rs778275831
|
0.00006
|
|
NM_002691.4(POLD1):c.2326C>T (p.Arg776Trp)
|
rs780138978
|
0.00006
|
|
NM_002691.4(POLD1):c.2717+15G>A
|
rs372493810
|
0.00006
|
|
NM_002691.4(POLD1):c.3218+5G>A
|
rs569395274
|
0.00006
|
|
NM_002691.4(POLD1):c.34G>A (p.Gly12Arg)
|
rs772197667
|
0.00006
|
|
NM_002693.3(POLG):c.129G>A (p.Gln43=)
|
rs570989155
|
0.00006
|
|
NM_002693.3(POLG):c.1545C>T (p.Ile515=)
|
rs537156830
|
0.00006
|
|
NM_002693.3(POLG):c.154C>A (p.Gln52Lys)
|
rs376683989
|
0.00006
|
|
NM_002693.3(POLG):c.1743C>T (p.Asp581=)
|
rs140743000
|
0.00006
|
|
NM_002693.3(POLG):c.2601T>C (p.Pro867=)
|
rs201749977
|
0.00006
|
|
NM_002693.3(POLG):c.3216C>G (p.Thr1072=)
|
rs146936870
|
0.00006
|
|
NM_002693.3(POLG):c.3450C>T (p.Ala1150=)
|
rs774880085
|
0.00006
|
|
NM_002709.3(PPP1CB):c.968C>T (p.Pro323Leu)
|
rs202171795
|
0.00006
|
|
NM_002739.5(PRKCG):c.1730C>T (p.Ser577Leu)
|
rs551805527
|
0.00006
|
|
NM_002755.4(MAP2K1):c.277G>A (p.Val93Ile)
|
rs151207265
|
0.00006
|
|
NM_002769.5(PRSS1):c.508A>G (p.Lys170Glu)
|
rs201550522
|
0.00006
|
|
NM_002769.5(PRSS1):c.674A>G (p.Lys225Arg)
|
rs541223359
|
0.00006
|
|
NM_002778.4(PSAP):c.1000A>T (p.Thr334Ser)
|
rs749663645
|
0.00006
|
|
NM_002778.4(PSAP):c.227T>A (p.Met76Lys)
|
rs377024801
|
0.00006
|
|
NM_002778.4(PSAP):c.249+6C>T
|
rs774663731
|
0.00006
|
|
NM_002788.4(PSMA3):c.694A>G (p.Ile232Val)
|
rs774361030
|
0.00006
|
|
NM_002834.5(PTPN11):c.132C>T (p.Ser44=)
|
rs397507502
|
0.00006
|
|
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu)
|
rs141140214
|
0.00006
|
|
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg)
|
rs397516805
|
0.00006
|
|
NM_002834.5(PTPN11):c.853+17C>T
|
rs746692191
|
0.00006
|
|
NM_002857.4(PEX19):c.347-7C>T
|
rs753523567
|
0.00006
|
|
NM_002863.5(PYGL):c.1758G>A (p.Thr586=)
|
rs755485474
|
0.00006
|
|
NM_002878.4(RAD51D):c.145-4G>A
|
rs201361465
|
0.00006
|
|
NM_002878.4(RAD51D):c.263+1641C>T
|
rs142387263
|
0.00006
|
|
NM_002878.4(RAD51D):c.715C>T (p.Arg239Trp)
|
rs770250516
|
0.00006
|
|
NM_002880.4(RAF1):c.66T>G (p.Phe22Leu)
|
rs397516824
|
0.00006
|
|
NM_002968.3(SALL1):c.1715C>T (p.Thr572Met)
|
rs373471563
|
0.00006
|
|
NM_002979.5(SCP2):c.1632C>T (p.Asn544=)
|
rs143534838
|
0.00006
|
|
NM_002979.5(SCP2):c.855A>G (p.Ala285=)
|
rs185811440
|
0.00006
|
|
NM_003072.5(SMARCA4):c.1287G>A (p.Ala429=)
|
rs143600641
|
0.00006
|
|
NM_003072.5(SMARCA4):c.1419+5G>A
|
rs199814381
|
0.00006
|
|
NM_003072.5(SMARCA4):c.3383-5G>A
|
rs762528243
|
0.00006
|
|
NM_003073.5(SMARCB1):c.585C>T (p.Ile195=)
|
rs757546528
|
0.00006
|
|
NM_003073.5(SMARCB1):c.987-4G>A
|
rs745773662
|
0.00006
|
|
NM_003098.3(SNTA1):c.589C>T (p.Arg197Trp)
|
rs530603992
|
0.00006
|
|
NM_003119.4(SPG7):c.1236G>A (p.Ala412=)
|
rs201129878
|
0.00006
|
|
NM_003119.4(SPG7):c.1325-6C>T
|
rs371986686
|
0.00006
|
|
NM_003126.4(SPTA1):c.5311-4T>A
|
rs544472935
|
0.00006
|
|
NM_003190.5(TAPBP):c.591G>A (p.Pro197=)
|
rs200497341
|
0.00006
|
|
NM_003193.5(TBCE):c.898+5A>T
|
rs182294717
|
0.00006
|
|
NM_003238.6(TGFB2):c.1140C>T (p.Cys380=)
|
rs201129153
|
0.00006
|
|
NM_003238.6(TGFB2):c.644-4C>T
|
rs11466408
|
0.00006
|
|
NM_003242.6(TGFBR2):c.985G>A (p.Ala329Thr)
|
rs148665451
|
0.00006
|
|
NM_003280.3(TNNC1):c.195C>T (p.Asp65=)
|
rs370426309
|
0.00006
|
|
NM_003289.4(TPM2):c.-10C>A
|
rs372751531
|
0.00006
|
|
NM_003331.5(TYK2):c.2176-9C>T
|
rs370673325
|
0.00006
|
|
NM_003465.3(CHIT1):c.1295G>A (p.Arg432Gln)
|
rs202003206
|
0.00006
|
|
NM_003466.4(PAX8):c.1028A>G (p.Asn343Ser)
|
rs374652916
|
0.00006
|
|
NM_003476.5(CSRP3):c.16G>A (p.Gly6Arg)
|
rs185980145
|
0.00006
|
|
NM_003482.4(KMT2D):c.10523G>A (p.Arg3508Gln)
|
rs772010347
|
0.00006
|
|
NM_003482.4(KMT2D):c.12270G>A (p.Gln4090=)
|
rs370665309
|
0.00006
|
|
NM_003482.4(KMT2D):c.13531-10T>C
|
rs769029919
|
0.00006
|
|
NM_003482.4(KMT2D):c.4392C>A (p.Val1464=)
|
rs758265897
|
0.00006
|
|
NM_003482.4(KMT2D):c.4986C>T (p.Cys1662=)
|
rs143063879
|
0.00006
|
|
NM_003611.3(OFD1):c.1634A>G (p.Gln545Arg)
|
rs373792491
|
0.00006
|
|
NM_003664.5(AP3B1):c.1749G>A (p.Pro583=)
|
rs201238945
|
0.00006
|
|
NM_003664.5(AP3B1):c.3197C>T (p.Ser1066Phe)
|
rs764100439
|
0.00006
|
|
NM_003673.4(TCAP):c.132C>T (p.Asp44=)
|
rs397516861
|
0.00006
|
|
NM_003680.4(YARS1):c.946G>A (p.Ala316Thr)
|
rs138454151
|
0.00006
|
|
NM_003690.5(PRKRA):c.796G>A (p.Ala266Thr)
|
rs148050153
|
0.00006
|
|
NM_003719.5(PDE8B):c.2130G>A (p.Arg710=)
|
rs186052720
|
0.00006
|
|
NM_003721.4(RFXANK):c.338-13C>G
|
rs749579925
|
0.00006
|
|
NM_003737.4(DCHS1):c.5363G>A (p.Arg1788His)
|
rs753184200
|
0.00006
|
|
NM_003738.5(PTCH2):c.311T>C (p.Leu104Pro)
|
rs80168454
|
0.00006
|
|
NM_003742.4(ABCB11):c.1465C>G (p.Leu489Val)
|
rs944713270
|
0.00006
|
|
NM_003742.4(ABCB11):c.2125G>A (p.Glu709Lys)
|
rs201800225
|
0.00006
|
|
NM_003742.4(ABCB11):c.2616C>T (p.Ala872=)
|
rs528640585
|
0.00006
|
|
NM_003742.4(ABCB11):c.3407A>G (p.Lys1136Arg)
|
rs752974260
|
0.00006
|
|
NM_003742.4(ABCB11):c.3412-7T>C
|
rs757040670
|
0.00006
|
|
NM_003742.4(ABCB11):c.667C>T (p.Arg223Cys)
|
rs199841445
|
0.00006
|
|
NM_003816.3(ADAM9):c.1074T>C (p.Asp358=)
|
rs202060547
|
0.00006
|
|
NM_003839.4(TNFRSF11A):c.1296G>A (p.Pro432=)
|
rs547088539
|
0.00006
|
|
NM_003839.4(TNFRSF11A):c.423C>T (p.His141=)
|
rs763226980
|
0.00006
|
|
NM_003859.3(DPM1):c.286T>C (p.Leu96=)
|
rs780244460
|
0.00006
|
|
NM_003900.5(SQSTM1):c.205+7G>C
|
rs912066047
|
0.00006
|
|
NM_003906.5(MCM3AP):c.4319C>T (p.Ala1440Val)
|
rs771441002
|
0.00006
|
|
NM_003977.4(AIP):c.145G>A (p.Val49Met)
|
rs1063385
|
0.00006
|
|
NM_003977.4(AIP):c.403C>T (p.His135Tyr)
|
rs150487522
|
0.00006
|
|
NM_003978.5(PSTPIP1):c.1146G>A (p.Ala382=)
|
rs760234757
|
0.00006
|
|
NM_003998.4(NFKB1):c.692G>A (p.Arg231His)
|
rs146936581
|
0.00006
|
|
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)
|
rs376898963
|
0.00006
|
|
NM_004006.3(DMD):c.1066C>T (p.Leu356Phe)
|
rs199981454
|
0.00006
|
|
NM_004006.3(DMD):c.3047G>A (p.Arg1016Gln)
|
rs139772014
|
0.00006
|
|
NM_004006.3(DMD):c.3445A>G (p.Lys1149Glu)
|
rs144667422
|
0.00006
|
|
NM_004006.3(DMD):c.501G>T (p.Leu167=)
|
rs150239235
|
0.00006
|
|
NM_004006.3(DMD):c.7051T>C (p.Leu2351=)
|
rs367747168
|
0.00006
|
|
NM_004006.3(DMD):c.8219A>G (p.Asp2740Gly)
|
rs771051897
|
0.00006
|
|
NM_004064.5(CDKN1B):c.225G>C (p.Glu75Asp)
|
rs139727620
|
0.00006
|
|
NM_004076.5(CRYBB3):c.235T>A (p.Phe79Ile)
|
rs200457939
|
0.00006
|
|
NM_004082.5(DCTN1):c.2002C>T (p.His668Tyr)
|
rs764443534
|
0.00006
|
|
NM_004082.5(DCTN1):c.3010C>G (p.Leu1004Val)
|
rs758387062
|
0.00006
|
|
NM_004092.4(ECHS1):c.286+6C>T
|
rs760182094
|
0.00006
|
|
NM_004100.5(EYA4):c.1338A>G (p.Leu446=)
|
rs200309400
|
0.00006
|
|
NM_004168.4(SDHA):c.1064+5G>A
|
rs200021115
|
0.00006
|
|
NM_004172.5(SLC1A3):c.1496G>A (p.Arg499Gln)
|
rs138085358
|
0.00006
|
|
NM_004187.5(KDM5C):c.1902C>A (p.Arg634=)
|
rs373931846
|
0.00006
|
|
NM_004260.4(RECQL4):c.862G>A (p.Gly288Arg)
|
rs199706417
|
0.00006
|
|
NM_004281.4(BAG3):c.-4C>T
|
rs727502894
|
0.00006
|
|
NM_004281.4(BAG3):c.1166G>A (p.Ser389Asn)
|
rs140251789
|
0.00006
|
|
NM_004281.4(BAG3):c.1214C>T (p.Ala405Val)
|
rs11199064
|
0.00006
|
|
NM_004281.4(BAG3):c.1523A>G (p.Tyr508Cys)
|
rs747583925
|
0.00006
|
|
NM_004281.4(BAG3):c.400T>A (p.Ser134Thr)
|
rs375257731
|
0.00006
|
|
NM_004281.4(BAG3):c.487C>T (p.Pro163Ser)
|
rs746956979
|
0.00006
|
|
NM_004281.4(BAG3):c.574G>A (p.Gly192Ser)
|
rs201487919
|
0.00006
|
|
NM_004281.4(BAG3):c.785C>T (p.Ala262Val)
|
rs397516883
|
0.00006
|
|
NM_004304.5(ALK):c.1184G>A (p.Arg395His)
|
rs769910087
|
0.00006
|
|
NM_004320.6(ATP2A1):c.1935C>T (p.Asn645=)
|
rs754620899
|
0.00006
|
|
NM_004329.3(BMPR1A):c.118G>A (p.Asp40Asn)
|
rs587781556
|
0.00006
|
|
NM_004333.6(BRAF):c.505-12A>G
|
rs377433501
|
0.00006
|
|
NM_004333.6(BRAF):c.52C>G (p.Leu18Val)
|
rs1222192591
|
0.00006
|
|
NM_004333.6(BRAF):c.92C>G (p.Ala31Gly)
|
rs397516906
|
0.00006
|
|
NM_004360.5(CDH1):c.2136G>T (p.Gly712=)
|
rs763402728
|
0.00006
|
|
NM_004360.5(CDH1):c.214G>A (p.Asp72Asn)
|
rs35606263
|
0.00006
|
|
NM_004360.5(CDH1):c.2343A>T (p.Glu781Asp)
|
rs587780119
|
0.00006
|
|
NM_004360.5(CDH1):c.49-3C>T
|
rs587782366
|
0.00006
|
|
NM_004360.5(CDH1):c.846G>A (p.Met282Ile)
|
rs200932258
|
0.00006
|
|
NM_004369.4(COL6A3):c.2754C>T (p.Tyr918=)
|
rs114492689
|
0.00006
|
|
NM_004369.4(COL6A3):c.3732C>T (p.Ala1244=)
|
rs193265138
|
0.00006
|
|
NM_004369.4(COL6A3):c.4677C>T (p.Phe1559=)
|
rs147215386
|
0.00006
|
|
NM_004369.4(COL6A3):c.6930+4C>T
|
rs375657891
|
0.00006
|
|
NM_004369.4(COL6A3):c.7590G>A (p.Val2530=)
|
rs115591088
|
0.00006
|
|
NM_004369.4(COL6A3):c.7755T>C (p.His2585=)
|
rs145581705
|
0.00006
|
|
NM_004370.6(COL12A1):c.2714G>A (p.Arg905His)
|
rs369193482
|
0.00006
|
|
NM_004370.6(COL12A1):c.2746A>G (p.Ile916Val)
|
rs200819563
|
0.00006
|
|
NM_004380.3(CREBBP):c.2415G>A (p.Ala805=)
|
rs368664039
|
0.00006
|
|
NM_004380.3(CREBBP):c.5361C>T (p.Asn1787=)
|
rs375462934
|
0.00006
|
|
NM_004393.6(DAG1):c.1690C>A (p.Leu564Ile)
|
rs199894361
|
0.00006
|
|
NM_004393.6(DAG1):c.735G>A (p.Pro245=)
|
rs748164001
|
0.00006
|
|
NM_004393.6(DAG1):c.927C>T (p.Arg309=)
|
rs551679833
|
0.00006
|
|
NM_004408.4(DNM1):c.796C>T (p.Arg266Cys)
|
rs138053929
|
0.00006
|
|
NM_004415.4(DSP):c.174A>G (p.Gln58=)
|
rs140384933
|
0.00006
|
|
NM_004415.4(DSP):c.2122G>A (p.Glu708Lys)
|
rs773113261
|
0.00006
|
|
NM_004415.4(DSP):c.3338G>A (p.Arg1113Gln)
|
rs768455823
|
0.00006
|
|
NM_004415.4(DSP):c.3836C>T (p.Ala1279Val)
|
rs753270443
|
0.00006
|
|
NM_004415.4(DSP):c.4022G>A (p.Arg1341His)
|
rs112242645
|
0.00006
|
|
NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala)
|
rs200745877
|
0.00006
|
|
NM_004415.4(DSP):c.5417C>G (p.Thr1806Ser)
|
rs149773722
|
0.00006
|
|
NM_004423.4(DVL3):c.694-3C>T
|
rs202033633
|
0.00006
|
|
NM_004519.4(KCNQ3):c.2491C>T (p.Arg831Trp)
|
rs185628977
|
0.00006
|
|
NM_004519.4(KCNQ3):c.2614A>G (p.Ile872Val)
|
rs199682667
|
0.00006
|
|
NM_004523.4(KIF11):c.2372C>T (p.Thr791Ile)
|
rs201096319
|
0.00006
|
|
NM_004525.3(LRP2):c.630C>T (p.Asp210=)
|
rs368336310
|
0.00006
|
|
NM_004544.4(NDUFA10):c.1005G>A (p.Pro335=)
|
rs778173280
|
0.00006
|
|
NM_004560.4(ROR2):c.1756G>A (p.Ala586Thr)
|
rs142386294
|
0.00006
|
|
NM_004560.4(ROR2):c.2212C>T (p.Arg738Cys)
|
rs56231927
|
0.00006
|
|
NM_004560.4(ROR2):c.2445G>A (p.Pro815=)
|
rs202010959
|
0.00006
|
|
NM_004568.6(SERPINB6):c.379G>A (p.Val127Ile)
|
rs146252067
|
0.00006
|
|
NM_004628.5(XPC):c.572G>A (p.Arg191Gln)
|
rs575874780
|
0.00006
|
|
NM_004629.2(FANCG):c.1808C>T (p.Ser603Phe)
|
rs17878854
|
0.00006
|
|
NM_004655.4(AXIN2):c.1201-7C>T
|
rs760667639
|
0.00006
|
|
NM_004655.4(AXIN2):c.1267C>T (p.Leu423Phe)
|
rs376630432
|
0.00006
|
|
NM_004655.4(AXIN2):c.1598C>T (p.Ala533Val)
|
rs147716924
|
0.00006
|
|
NM_004655.4(AXIN2):c.623C>T (p.Ala208Val)
|
rs201531372
|
0.00006
|
|
NM_004656.4(BAP1):c.1781G>C (p.Gly594Ala)
|
rs144172190
|
0.00006
|
|
NM_004667.6(HERC2):c.13566G>A (p.Pro4522=)
|
rs574228980
|
0.00006
|
|
NM_004733.4(SLC33A1):c.1579T>G (p.Phe527Val)
|
rs200914930
|
0.00006
|
|
NM_004736.4(XPR1):c.2009G>A (p.Arg670His)
|
rs142675657
|
0.00006
|
|
NM_004793.4(LONP1):c.2013+6C>T
|
rs1025252513
|
0.00006
|
|
NM_004817.4(TJP2):c.2334C>T (p.Thr778=)
|
rs183285809
|
0.00006
|
|
NM_004817.4(TJP2):c.2880+17C>T
|
rs778212657
|
0.00006
|
|
NM_004946.3(DOCK2):c.2704-3C>T
|
rs144101028
|
0.00006
|
|
NM_004958.4(MTOR):c.889G>A (p.Asp297Asn)
|
rs141936187
|
0.00006
|
|
NM_004972.4(JAK2):c.3177G>A (p.Ala1059=)
|
rs374744702
|
0.00006
|
|
NM_004990.4(MARS1):c.1540-3C>T
|
rs372013808
|
0.00006
|
|
NM_004990.4(MARS1):c.1813G>A (p.Asp605Asn)
|
rs139600659
|
0.00006
|
|
NM_005045.4(RELN):c.1669T>G (p.Phe557Val)
|
rs757726526
|
0.00006
|
|
NM_005045.4(RELN):c.3191C>G (p.Ala1064Gly)
|
rs565236668
|
0.00006
|
|
NM_005045.4(RELN):c.5246A>G (p.Asn1749Ser)
|
rs755596079
|
0.00006
|
|
NM_005207.4(CRKL):c.840C>T (p.Asn280=)
|
rs769606385
|
0.00006
|
|
NM_005249.5(FOXG1):c.376G>A (p.Gly126Ser)
|
rs796052455
|
0.00006
|
|
NM_005419.4(STAT2):c.903C>T (p.Asn301=)
|
rs145152331
|
0.00006
|
|
NM_005422.4(TECTA):c.1621G>A (p.Val541Met)
|
rs370652301
|
0.00006
|
|
NM_005422.4(TECTA):c.6401C>T (p.Thr2134Met)
|
rs372282487
|
0.00006
|
|
NM_005422.4(TECTA):c.841G>A (p.Val281Ile)
|
rs142205703
|
0.00006
|
|
NM_005476.7(GNE):c.1242T>C (p.Leu414=)
|
rs371881711
|
0.00006
|
|
NM_005476.7(GNE):c.1281+6A>T
|
rs201025841
|
0.00006
|
|
NM_005502.4(ABCA1):c.1997G>A (p.Arg666Gln)
|
rs142374413
|
0.00006
|
|
NM_005518.4(HMGCS2):c.1420+13T>C
|
rs771878586
|
0.00006
|
|
NM_005529.7(HSPG2):c.11770+10G>A
|
rs746954804
|
0.00006
|
|
NM_005529.7(HSPG2):c.12195G>A (p.Pro4065=)
|
rs573932867
|
0.00006
|
|
NM_005529.7(HSPG2):c.2558+10A>G
|
rs756733330
|
0.00006
|
|
NM_005529.7(HSPG2):c.4928C>A (p.Pro1643His)
|
rs775389963
|
0.00006
|
|
NM_005529.7(HSPG2):c.769C>T (p.Arg257Trp)
|
rs535956121
|
0.00006
|
|
NM_005529.7(HSPG2):c.8776C>A (p.Pro2926Thr)
|
rs370487132
|
0.00006
|
|
NM_005529.7(HSPG2):c.9291C>T (p.Tyr3097=)
|
rs534949106
|
0.00006
|
|
NM_005566.4(LDHA):c.406G>A (p.Val136Ile)
|
rs184074326
|
0.00006
|
|
NM_005591.4(MRE11):c.1462C>T (p.Arg488Cys)
|
rs375261439
|
0.00006
|
|
NM_005591.4(MRE11):c.777G>A (p.Gln259=)
|
rs774144789
|
0.00006
|
|
NM_005609.4(PYGM):c.1239+12G>A
|
rs760471706
|
0.00006
|
|
NM_005609.4(PYGM):c.2199C>T (p.Tyr733=)
|
rs140102591
|
0.00006
|
|
NM_005633.4(SOS1):c.2225T>C (p.Ile742Thr)
|
rs767494615
|
0.00006
|
|
NM_005633.4(SOS1):c.3769A>G (p.Thr1257Ala)
|
rs553805862
|
0.00006
|
|
NM_005633.4(SOS1):c.929G>A (p.Arg310His)
|
rs143481916
|
0.00006
|
|
NM_005660.3(SLC35A2):c.1039G>A (p.Ala347Thr)
|
rs781948153
|
0.00006
|
|
NM_005677.4(COLQ):c.912C>T (p.Tyr304=)
|
rs886058099
|
0.00006
|
|
NM_005732.4(RAD50):c.1663A>G (p.Ile555Val)
|
rs201120953
|
0.00006
|
|
NM_005732.4(RAD50):c.2173C>T (p.Arg725Trp)
|
rs369560280
|
0.00006
|
|
NM_005751.5(AKAP9):c.3350G>A (p.Arg1117His)
|
rs546600149
|
0.00006
|
|
NM_005751.5(AKAP9):c.7314A>T (p.Glu2438Asp)
|
rs138468216
|
0.00006
|
|
NM_005787.6(ALG3):c.297-6T>C
|
rs371534425
|
0.00006
|
|
NM_005902.4(SMAD3):c.207-26869C>A
|
rs958007552
|
0.00006
|
|
NM_006005.3(WFS1):c.1135G>A (p.Asp379Asn)
|
rs772554352
|
0.00006
|
|
NM_006005.3(WFS1):c.1392C>T (p.Thr464=)
|
rs565697340
|
0.00006
|
|
NM_006005.3(WFS1):c.1580C>T (p.Thr527Ile)
|
rs372663248
|
0.00006
|
|
NM_006005.3(WFS1):c.1656C>T (p.Thr552=)
|
rs141477172
|
0.00006
|
|
NM_006005.3(WFS1):c.1724C>G (p.Ala575Gly)
|
rs71524360
|
0.00006
|
|
NM_006005.3(WFS1):c.2181C>T (p.Ile727=)
|
rs140286718
|
0.00006
|
|
NM_006005.3(WFS1):c.2208C>T (p.Gly736=)
|
rs141020933
|
0.00006
|
|
NM_006005.3(WFS1):c.231C>T (p.Thr77=)
|
rs372609400
|
0.00006
|
|
NM_006005.3(WFS1):c.2359G>A (p.Ala787Thr)
|
rs571946670
|
0.00006
|
|
NM_006005.3(WFS1):c.28C>T (p.Pro10Ser)
|
rs760256649
|
0.00006
|
|
NM_006005.3(WFS1):c.449C>T (p.Ala150Val)
|
rs113651985
|
0.00006
|
|
NM_006005.3(WFS1):c.504C>T (p.Ser168=)
|
rs71537675
|
0.00006
|
|
NM_006012.4(CLPP):c.340C>T (p.Pro114Ser)
|
rs771668786
|
0.00006
|
|
NM_006015.6(ARID1A):c.1715C>T (p.Thr572Met)
|
rs778345898
|
0.00006
|
|
NM_006015.6(ARID1A):c.3967C>T (p.Arg1323Cys)
|
rs587778051
|
0.00006
|
|
NM_006017.3(PROM1):c.1301+3G>A
|
rs373623517
|
0.00006
|
|
NM_006031.6(PCNT):c.1943C>G (p.Pro648Arg)
|
rs752992538
|
0.00006
|
|
NM_006031.6(PCNT):c.405C>T (p.Val135=)
|
rs371917839
|
0.00006
|
|
NM_006031.6(PCNT):c.6651G>T (p.Gly2217=)
|
rs755119869
|
0.00006
|
|
NM_006031.6(PCNT):c.930C>T (p.His310=)
|
rs778056605
|
0.00006
|
|
NM_006031.6(PCNT):c.9826C>T (p.His3276Tyr)
|
rs202170105
|
0.00006
|
|
NM_006059.4(LAMC3):c.4660C>T (p.Arg1554Cys)
|
rs375971925
|
0.00006
|
|
NM_006096.4(NDRG1):c.270C>T (p.Ala90=)
|
rs200328537
|
0.00006
|
|
NM_006206.6(PDGFRA):c.2742G>C (p.Arg914=)
|
rs56384252
|
0.00006
|
|
NM_006206.6(PDGFRA):c.827C>T (p.Thr276Met)
|
rs142492533
|
0.00006
|
|
NM_006206.6(PDGFRA):c.896T>C (p.Val299Ala)
|
rs200033396
|
0.00006
|
|
NM_006208.3(ENPP1):c.2088C>T (p.Thr696=)
|
rs142835743
|
0.00006
|
|
NM_006231.4(POLE):c.1106+20A>G
|
rs200322118
|
0.00006
|
|
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr)
|
rs140566004
|
0.00006
|
|
NM_006231.4(POLE):c.2468+12C>T
|
rs776938447
|
0.00006
|
|
NM_006231.4(POLE):c.3459+8C>T
|
rs375852759
|
0.00006
|
|
NM_006231.4(POLE):c.4901G>A (p.Arg1634His)
|
rs760149463
|
0.00006
|
|
NM_006231.4(POLE):c.5553-12C>G
|
rs766922669
|
0.00006
|
|
NM_006348.5(COG5):c.2168+9G>A
|
rs746107488
|
0.00006
|
|
NM_006420.3(ARFGEF2):c.1190+6C>T
|
rs370106283
|
0.00006
|
|
NM_006432.5(NPC2):c.270T>C (p.Pro90=)
|
rs758503440
|
0.00006
|
|
NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter)
|
rs202059967
|
0.00006
|
|
NM_006486.3(FBLN1):c.1012G>A (p.Val338Met)
|
rs766511464
|
0.00006
|
|
NM_006514.4(SCN10A):c.1754C>T (p.Ser585Leu)
|
rs781705809
|
0.00006
|
|
NM_006514.4(SCN10A):c.3010T>G (p.Ser1004Ala)
|
rs186031413
|
0.00006
|
|
NM_006514.4(SCN10A):c.3425G>A (p.Arg1142His)
|
rs200584416
|
0.00006
|
|
NM_006514.4(SCN10A):c.4208T>C (p.Ile1403Thr)
|
rs140825889
|
0.00006
|
|
NM_006514.4(SCN10A):c.4514C>T (p.Thr1505Met)
|
rs184521520
|
0.00006
|
|
NM_006514.4(SCN10A):c.5548C>T (p.Gln1850Ter)
|
rs149504103
|
0.00006
|
|
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr)
|
rs141619735
|
0.00006
|
|
NM_006516.4(SLC2A1):c.1108G>A (p.Val370Met)
|
rs751573593
|
0.00006
|
|
NM_006516.4(SLC2A1):c.188C>T (p.Thr63Met)
|
rs200828053
|
0.00006
|
|
NM_006516.4(SLC2A1):c.799G>A (p.Ala267Thr)
|
rs199639208
|
0.00006
|
|
NM_006623.4(PHGDH):c.1255G>A (p.Gly419Arg)
|
rs145344767
|
0.00006
|
|
NM_006662.3(SRCAP):c.4355C>T (p.Ser1452Leu)
|
rs200175704
|
0.00006
|
|
NM_006767.4(LZTR1):c.372C>T (p.Val124=)
|
rs371891909
|
0.00006
|
|
NM_006790.3(MYOT):c.1203T>A (p.Asp401Glu)
|
rs78633961
|
0.00006
|
|
NM_006790.3(MYOT):c.1335C>T (p.Asn445=)
|
rs769506328
|
0.00006
|
|
NM_006892.4(DNMT3B):c.143-9C>G
|
rs377138079
|
0.00006
|
|
NM_006892.4(DNMT3B):c.1996+7A>G
|
rs556202476
|
0.00006
|
|
NM_006922.4(SCN3A):c.1813G>A (p.Glu605Lys)
|
rs755167692
|
0.00006
|
|
NM_006922.4(SCN3A):c.2077A>G (p.Met693Val)
|
rs138331141
|
0.00006
|
|
NM_006922.4(SCN3A):c.5394A>G (p.Glu1798=)
|
rs746501220
|
0.00006
|
|
NM_006939.4(SOS2):c.674G>A (p.Arg225Gln)
|
rs780580623
|
0.00006
|
|
NM_006941.4(SOX10):c.1077G>C (p.Glu359Asp)
|
rs764180850
|
0.00006
|
|
NM_006946.4(SPTBN2):c.1336C>T (p.Arg446Cys)
|
rs147422843
|
0.00006
|
|
NM_006946.4(SPTBN2):c.1653+13C>T
|
rs376349935
|
0.00006
|
|
NM_006946.4(SPTBN2):c.5593C>T (p.Arg1865Trp)
|
rs755595060
|
0.00006
|
|
NM_006946.4(SPTBN2):c.6755G>A (p.Arg2252His)
|
rs529514462
|
0.00006
|
|
NM_006996.3(SLC19A2):c.795C>T (p.Pro265=)
|
rs201489069
|
0.00006
|
|
NM_007078.3(LDB3):c.1697T>G (p.Met566Arg)
|
rs566463138
|
0.00006
|
|
NM_007103.4(NDUFV1):c.249G>A (p.Ser83=)
|
rs773832212
|
0.00006
|
|
NM_007194.4(CHEK2):c.1260-10C>G
|
rs730881706
|
0.00006
|
|
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)
|
rs587780180
|
0.00006
|
|
NM_007194.4(CHEK2):c.539G>A (p.Arg180His)
|
rs137853009
|
0.00006
|
|
NM_007194.4(CHEK2):c.542G>A (p.Arg181His)
|
rs121908701
|
0.00006
|
|
NM_007215.4(POLG2):c.694G>A (p.Gly232Ser)
|
rs143660836
|
0.00006
|
|
NM_007272.3(CTRC):c.39T>C (p.Cys13=)
|
rs747431847
|
0.00006
|
|
NM_007272.3(CTRC):c.41-5C>A
|
rs781284605
|
0.00006
|
|
NM_007294.4(BRCA1):c.1243G>A (p.Val415Ile)
|
rs587782770
|
0.00006
|
|
NM_007294.4(BRCA1):c.135-3T>C
|
rs759417413
|
0.00006
|
|
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe)
|
rs41286294
|
0.00006
|
|
NM_007294.4(BRCA1):c.1617G>A (p.Thr539=)
|
rs372002119
|
0.00006
|
|
NM_007294.4(BRCA1):c.1724A>G (p.Glu575Gly)
|
rs111539978
|
0.00006
|
|
NM_007294.4(BRCA1):c.1747A>G (p.Lys583Glu)
|
rs80356928
|
0.00006
|
|
NM_007294.4(BRCA1):c.1802A>G (p.His601Arg)
|
rs371631805
|
0.00006
|
|
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His)
|
rs55746541
|
0.00006
|
|
NM_007294.4(BRCA1):c.2428A>T (p.Asn810Tyr)
|
rs28897682
|
0.00006
|
|
NM_007294.4(BRCA1):c.2522G>A (p.Arg841Gln)
|
rs80357337
|
0.00006
|
|
NM_007294.4(BRCA1):c.3247A>C (p.Met1083Leu)
|
rs397507213
|
0.00006
|
|
NM_007294.4(BRCA1):c.3346G>C (p.Val1116Leu)
|
rs55909400
|
0.00006
|
|
NM_007294.4(BRCA1):c.3515A>G (p.Glu1172Gly)
|
rs80357206
|
0.00006
|
|
NM_007294.4(BRCA1):c.3608G>A (p.Arg1203Gln)
|
rs55930959
|
0.00006
|
|
NM_007294.4(BRCA1):c.3739G>A (p.Val1247Ile)
|
rs80357191
|
0.00006
|
|
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn)
|
rs28897691
|
0.00006
|
|
NM_007294.4(BRCA1):c.5278-14C>G
|
rs80358105
|
0.00006
|
|
NM_007294.4(BRCA1):c.795T>C (p.Ser265=)
|
rs201441987
|
0.00006
|
|
NM_007294.4(BRCA1):c.878C>G (p.Thr293Ser)
|
rs747172803
|
0.00006
|
|
NM_007294.4(BRCA1):c.946A>G (p.Ser316Gly)
|
rs55874646
|
0.00006
|
|
NM_007327.4(GRIN1):c.705C>T (p.Ala235=)
|
rs201343933
|
0.00006
|
|
NM_007373.4(SHOC2):c.610A>G (p.Ile204Val)
|
rs200015085
|
0.00006
|
|
NM_007375.4(TARDBP):c.669C>G (p.Pro223=)
|
rs149517613
|
0.00006
|
|
NM_012144.4(DNAI1):c.1371C>T (p.Asp457=)
|
rs113249236
|
0.00006
|
|
NM_012144.4(DNAI1):c.1417A>G (p.Ile473Val)
|
rs199774301
|
0.00006
|
|
NM_012179.4(FBXO7):c.1506T>C (p.Asn502=)
|
rs765344006
|
0.00006
|
|
NM_012233.3(RAB3GAP1):c.816C>T (p.Cys272=)
|
rs199898437
|
0.00006
|
|
NM_012414.4(RAB3GAP2):c.2282C>T (p.Ser761Leu)
|
rs562096116
|
0.00006
|
|
NM_012431.3(SEMA3E):c.479C>T (p.Ser160Leu)
|
rs142392597
|
0.00006
|
|
NM_012452.3(TNFRSF13B):c.593G>A (p.Arg198His)
|
rs150974807
|
0.00006
|
|
NM_012472.6(DNAAF11):c.974+14C>A
|
rs780037666
|
0.00006
|
|
NM_013247.5(HTRA2):c.1056C>T (p.Ser352=)
|
rs781540048
|
0.00006
|
|
NM_013296.5(GPSM2):c.1909C>T (p.Arg637Trp)
|
rs189033496
|
0.00006
|
|
NM_013339.4(ALG6):c.1314T>C (p.Ile438=)
|
rs146939069
|
0.00006
|
|
NM_013444.4(UBQLN2):c.1420C>G (p.Pro474Ala)
|
rs761503297
|
0.00006
|
|
NM_014000.3(VCL):c.2468G>A (p.Arg823Gln)
|
rs759202535
|
0.00006
|
|
NM_014000.3(VCL):c.404T>C (p.Ile135Thr)
|
rs373744314
|
0.00006
|
|
NM_014043.4(CHMP2B):c.56G>A (p.Arg19Gln)
|
rs200322526
|
0.00006
|
|
NM_014140.4(SMARCAL1):c.927C>T (p.Ser309=)
|
rs139949668
|
0.00006
|
|
NM_014141.6(CNTNAP2):c.1898-9T>C
|
rs372830287
|
0.00006
|
|
NM_014141.6(CNTNAP2):c.3111C>T (p.Pro1037=)
|
rs368108883
|
0.00006
|
|
NM_014141.6(CNTNAP2):c.402+8A>G
|
rs201311931
|
0.00006
|
|
NM_014241.4(HACD1):c.143C>T (p.Thr48Ile)
|
rs864309602
|
0.00006
|
|
NM_014244.5(ADAMTS2):c.2866G>A (p.Ala956Thr)
|
rs375191740
|
0.00006
|
|
NM_014249.4(NR2E3):c.119-8C>T
|
rs373874970
|
0.00006
|
|
NM_014251.3(SLC25A13):c.790G>A (p.Val264Ile)
|
rs531991442
|
0.00006
|
|
NM_014297.5(ETHE1):c.9G>A (p.Glu3=)
|
rs773937760
|
0.00006
|
|
NM_014324.6(AMACR):c.247+9G>T
|
rs1361255226
|
0.00006
|
|
NM_014324.6(AMACR):c.429G>A (p.Pro143=)
|
rs368427062
|
0.00006
|
|
NM_014324.6(AMACR):c.90T>G (p.Arg30=)
|
rs769780647
|
0.00006
|
|
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr)
|
rs201505036
|
0.00006
|
|
NM_014363.6(SACS):c.110G>A (p.Arg37His)
|
rs866539724
|
0.00006
|
|
NM_014363.6(SACS):c.11717C>T (p.Ala3906Val)
|
rs375961779
|
0.00006
|
|
NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr)
|
rs200707453
|
0.00006
|
|
NM_014363.6(SACS):c.12216T>A (p.Thr4072=)
|
rs574182225
|
0.00006
|
|
NM_014363.6(SACS):c.2487C>T (p.Asp829=)
|
rs151198216
|
0.00006
|
|
NM_014363.6(SACS):c.2776A>G (p.Ile926Val)
|
rs144362131
|
0.00006
|
|
NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu)
|
rs755723511
|
0.00006
|
|
NM_014363.6(SACS):c.9903G>T (p.Leu3301=)
|
rs563145604
|
0.00006
|
|
NM_014714.4(IFT140):c.2645C>T (p.Ala882Val)
|
rs200394007
|
0.00006
|
|
NM_014714.4(IFT140):c.3490A>G (p.Met1164Val)
|
rs369425839
|
0.00006
|
|
NM_014714.4(IFT140):c.3580C>G (p.Gln1194Glu)
|
rs555330165
|
0.00006
|
|
NM_014714.4(IFT140):c.4266C>T (p.Ala1422=)
|
rs149359139
|
0.00006
|
|
NM_014714.4(IFT140):c.778C>T (p.Pro260Ser)
|
rs369671309
|
0.00006
|
|
NM_014727.3(KMT2B):c.620G>A (p.Arg207Gln)
|
rs369788045
|
0.00006
|
|
NM_014727.3(KMT2B):c.6460G>A (p.Ala2154Thr)
|
rs377080591
|
0.00006
|
|
NM_014780.5(CUL7):c.3747G>A (p.Leu1249=)
|
rs141211365
|
0.00006
|
|
NM_014780.5(CUL7):c.4713C>T (p.Ile1571=)
|
rs368539088
|
0.00006
|
|
NM_014795.4(ZEB2):c.2275A>G (p.Arg759Gly)
|
rs748354087
|
0.00006
|
|
NM_014795.4(ZEB2):c.2855G>C (p.Arg952Thr)
|
rs151256895
|
0.00006
|
|
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=)
|
rs752659088
|
0.00006
|
|
NM_014844.5(TECPR2):c.1792G>A (p.Gly598Arg)
|
rs772792595
|
0.00006
|
|
NM_014844.5(TECPR2):c.2514G>C (p.Pro838=)
|
rs140913653
|
0.00006
|
|
NM_014855.3(AP5Z1):c.417G>A (p.Ala139=)
|
rs201203264
|
0.00006
|
|
NM_014908.4(DOLK):c.210C>G (p.Val70=)
|
rs750368652
|
0.00006
|
|
NM_014989.7(RIMS1):c.1533G>A (p.Pro511=)
|
rs201473375
|
0.00006
|
|
NM_014989.7(RIMS1):c.4506-5G>A
|
rs201556693
|
0.00006
|
|
NM_015046.7(SETX):c.1880T>C (p.Met627Thr)
|
rs199707503
|
0.00006
|
|
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg)
|
rs141266068
|
0.00006
|
|
NM_015102.5(NPHP4):c.-8C>T
|
rs375807896
|
0.00006
|
|
NM_015102.5(NPHP4):c.3960C>T (p.Leu1320=)
|
rs778306754
|
0.00006
|
|
NM_015158.5(KANK1):c.95T>C (p.Phe32Ser)
|
rs183362306
|
0.00006
|
|
NM_015166.4(MLC1):c.715-5C>A
|
rs751850836
|
0.00006
|
|
NM_015192.4(PLCB1):c.1188G>A (p.Ala396=)
|
rs202109404
|
0.00006
|
|
NM_015192.4(PLCB1):c.2112G>A (p.Leu704=)
|
rs139095432
|
0.00006
|
|
NM_015295.3(SMCHD1):c.4108C>T (p.Arg1370Cys)
|
rs942559171
|
0.00006
|
|
NM_015311.3(OBSL1):c.4609+12G>A
|
rs367810594
|
0.00006
|
|
NM_015338.6(ASXL1):c.812G>C (p.Arg271Pro)
|
rs576447224
|
0.00006
|
|
NM_015340.4(LARS2):c.763G>A (p.Ala255Thr)
|
rs201911936
|
0.00006
|
|
NM_015443.4(KANSL1):c.1277G>A (p.Arg426His)
|
rs764291274
|
0.00006
|
|
NM_015506.3(MMACHC):c.458G>A (p.Arg153Gln)
|
rs200276195
|
0.00006
|
|
NM_015512.5(DNAH1):c.6293G>A (p.Arg2098His)
|
rs373906923
|
0.00006
|
|
NM_015559.3(SETBP1):c.3731A>G (p.Gln1244Arg)
|
rs201474295
|
0.00006
|
|
NM_015570.4(AUTS2):c.3341G>A (p.Arg1114His)
|
rs370456436
|
0.00006
|
|
NM_015662.3(IFT172):c.877G>A (p.Ala293Thr)
|
rs370903625
|
0.00006
|
|
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr)
|
rs147318949
|
0.00006
|
|
NM_015909.4(NBAS):c.1903A>T (p.Ile635Phe)
|
rs201269329
|
0.00006
|
|
NM_016203.4(PRKAG2):c.130G>A (p.Ala44Thr)
|
rs144857453
|
0.00006
|
|
NM_016203.4(PRKAG2):c.182G>A (p.Arg61Gln)
|
rs564358410
|
0.00006
|
|
NM_016219.5(MAN1B1):c.1765-9C>T
|
rs977693376
|
0.00006
|
|
NM_016239.4(MYO15A):c.4484C>T (p.Thr1495Met)
|
rs760534158
|
0.00006
|
|
NM_016239.4(MYO15A):c.4561G>C (p.Glu1521Gln)
|
rs769189017
|
0.00006
|
|
NM_016239.4(MYO15A):c.467T>C (p.Val156Ala)
|
rs761670755
|
0.00006
|
|
NM_016239.4(MYO15A):c.4848C>G (p.Phe1616Leu)
|
rs368430972
|
0.00006
|
|
NM_016239.4(MYO15A):c.5867G>A (p.Arg1956Gln)
|
rs769596933
|
0.00006
|
|
NM_016239.4(MYO15A):c.5893C>T (p.Arg1965Cys)
|
rs374485649
|
0.00006
|
|
NM_016239.4(MYO15A):c.6357G>A (p.Ala2119=)
|
rs374951514
|
0.00006
|
|
NM_016239.4(MYO15A):c.8239G>A (p.Asp2747Asn)
|
rs374160194
|
0.00006
|
|
NM_016247.4(IMPG2):c.1794C>T (p.Asp598=)
|
rs371805004
|
0.00006
|
|
NM_016366.3(CABP2):c.345C>A (p.Thr115=)
|
rs376093439
|
0.00006
|
|
NM_016373.4(WWOX):c.421G>A (p.Ala141Thr)
|
rs369907002
|
0.00006
|
|
NM_016529.6(ATP8A2):c.1397+6T>C
|
rs199641767
|
0.00006
|
|
NM_016729.3(FOLR1):c.215A>G (p.Gln72Arg)
|
rs148345688
|
0.00006
|
|
NM_016938.5(EFEMP2):c.363T>C (p.Cys121=)
|
rs746343857
|
0.00006
|
|
NM_016938.5(EFEMP2):c.628G>A (p.Gly210Arg)
|
rs546162289
|
0.00006
|
|
NM_017534.6(MYH2):c.1227C>T (p.Val409=)
|
rs563146441
|
0.00006
|
|
NM_017617.5(NOTCH1):c.3001G>A (p.Gly1001Ser)
|
rs763621169
|
0.00006
|
|
NM_017617.5(NOTCH1):c.3271G>A (p.Gly1091Ser)
|
rs768095251
|
0.00006
|
|
NM_017617.5(NOTCH1):c.339C>T (p.Asn113=)
|
rs369947231
|
0.00006
|
|
NM_017617.5(NOTCH1):c.4718C>T (p.Thr1573Met)
|
rs573864607
|
0.00006
|
|
NM_017654.4(SAMD9):c.1370A>C (p.Glu457Ala)
|
rs147552284
|
0.00006
|
|
NM_017668.3(NDE1):c.948-3126G>A
|
rs377410503
|
0.00006
|
|
NM_017668.3(NDE1):c.948-9103C>T
|
rs202120792
|
0.00006
|
|
NM_017780.4(CHD7):c.1424T>C (p.Met475Thr)
|
rs749781761
|
0.00006
|
|
NM_017780.4(CHD7):c.2788G>A (p.Glu930Lys)
|
rs377330239
|
0.00006
|
|
NM_017780.4(CHD7):c.4534-20C>T
|
rs727503866
|
0.00006
|
|
NM_017780.4(CHD7):c.5015C>T (p.Ala1672Val)
|
rs61737194
|
0.00006
|
|
NM_017780.4(CHD7):c.5275A>C (p.Lys1759Gln)
|
rs371988345
|
0.00006
|
|
NM_017780.4(CHD7):c.90G>A (p.Pro30=)
|
rs374464240
|
0.00006
|
|
NM_017780.4(CHD7):c.911T>C (p.Ile304Thr)
|
rs537091457
|
0.00006
|
|
NM_017802.4(DNAAF5):c.1976C>T (p.Ala659Val)
|
rs137924231
|
0.00006
|
|
NM_017866.6(TMEM70):c.462C>A (p.Ile154=)
|
rs143954787
|
0.00006
|
|
NM_017882.3(CLN6):c.199-5C>T
|
rs371705916
|
0.00006
|
|
NM_017882.3(CLN6):c.597C>G (p.Ala199=)
|
rs368546281
|
0.00006
|
|
NM_017934.7(PHIP):c.2667A>T (p.Lys889Asn)
|
rs756471447
|
0.00006
|
|
NM_018026.4(PACS1):c.385G>A (p.Val129Ile)
|
rs115491121
|
0.00006
|
|
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp)
|
rs369503191
|
0.00006
|
|
NM_018100.4(EFHC1):c.1856T>G (p.Ile619Ser)
|
rs142458862
|
0.00006
|
|
NM_018136.5(ASPM):c.1388G>A (p.Ser463Asn)
|
rs587783218
|
0.00006
|
|
NM_018136.5(ASPM):c.4443A>G (p.Leu1481=)
|
rs374040448
|
0.00006
|
|
NM_018249.6(CDK5RAP2):c.817G>A (p.Glu273Lys)
|
rs772591394
|
0.00006
|
|
NM_018263.6(ASXL2):c.3848G>A (p.Arg1283His)
|
rs572342520
|
0.00006
|
|
NM_018297.4(NGLY1):c.1268T>A (p.Leu423Gln)
|
rs369598638
|
0.00006
|
|
NM_018444.4(PDP1):c.1595C>T (p.Ala532Val)
|
rs768767735
|
0.00006
|
|
NM_018646.6(TRPV6):c.402C>T (p.Ala134=)
|
rs387907545
|
0.00006
|
|
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly)
|
rs141025803
|
0.00006
|
|
NM_018723.4(RBFOX1):c.1050C>A (p.Pro350=)
|
rs141919506
|
0.00006
|
|
NM_018943.3(TUBA8):c.249C>T (p.Tyr83=)
|
rs774431958
|
0.00006
|
|
NM_018979.4(WNK1):c.5144A>G (p.Asn1715Ser)
|
rs756614581
|
0.00006
|
|
NM_018979.4(WNK1):c.5734A>C (p.Ile1912Leu)
|
rs201995891
|
0.00006
|
|
NM_019066.5(MAGEL2):c.3746G>A (p.Arg1249His)
|
rs745776063
|
0.00006
|
|
NM_019098.5(CNGB3):c.2387A>G (p.Glu796Gly)
|
rs781481819
|
0.00006
|
|
NM_019892.6(INPP5E):c.1104C>T (p.His368=)
|
rs148592275
|
0.00006
|
|
NM_019892.6(INPP5E):c.1380C>T (p.Ser460=)
|
rs145543466
|
0.00006
|
|
NM_020117.11(LARS1):c.3205G>A (p.Val1069Ile)
|
rs777624825
|
0.00006
|
|
NM_020166.5(MCCC1):c.1773C>T (p.Ser591=)
|
rs200651846
|
0.00006
|
|
NM_020184.4(CNNM4):c.1587G>A (p.Lys529=)
|
rs569907931
|
0.00006
|
|
NM_020207.7(ERCC6L2):c.2746G>A (p.Asp916Asn)
|
rs953232395
|
0.00006
|
|
NM_020247.5(COQ8A):c.588+4C>T
|
rs368446029
|
0.00006
|
|
NM_020297.4(ABCC9):c.3070A>G (p.Ile1024Val)
|
rs376701259
|
0.00006
|
|
NM_020297.4(ABCC9):c.3668C>T (p.Thr1223Met)
|
rs137907278
|
0.00006
|
|
NM_020297.4(ABCC9):c.4512+711G>A
|
rs72559751
|
0.00006
|
|
NM_020297.4(ABCC9):c.882G>A (p.Gly294=)
|
rs764574133
|
0.00006
|
|
NM_020451.3(SELENON):c.465G>A (p.Thr155=)
|
rs753774853
|
0.00006
|
|
NM_020451.3(SELENON):c.732G>A (p.Pro244=)
|
rs200765195
|
0.00006
|
|
NM_020461.4(TUBGCP6):c.1719C>T (p.Tyr573=)
|
rs201299983
|
0.00006
|
|
NM_020461.4(TUBGCP6):c.1851C>T (p.Ser617=)
|
rs375913178
|
0.00006
|
|
NM_020461.4(TUBGCP6):c.2065+9C>T
|
rs781746721
|
0.00006
|
|
NM_020533.3(MCOLN1):c.1038G>A (p.Glu346=)
|
rs535704197
|
0.00006
|
|
NM_020533.3(MCOLN1):c.265C>T (p.Leu89=)
|
rs567995024
|
0.00006
|
|
NM_020533.3(MCOLN1):c.783G>A (p.Thr261=)
|
rs200484869
|
0.00006
|
|
NM_020549.5(CHAT):c.1814G>A (p.Arg605His)
|
rs199926163
|
0.00006
|
|
NM_020686.6(ABAT):c.816+19G>A
|
rs147226856
|
0.00006
|
|
NM_020738.4(KIDINS220):c.1600G>T (p.Ala534Ser)
|
rs199536870
|
0.00006
|
|
NM_020745.4(AARS2):c.1832G>A (p.Arg611Gln)
|
rs150402972
|
0.00006
|
|
NM_020774.4(MIB1):c.376C>T (p.Arg126Ter)
|
rs190657514
|
0.00006
|
|
NM_020778.5(ALPK3):c.2504C>T (p.Pro835Leu)
|
rs529373050
|
0.00006
|
|
NM_020778.5(ALPK3):c.2543C>T (p.Pro848Leu)
|
rs372536101
|
0.00006
|
|
NM_020779.4(WDR35):c.2573T>C (p.Val858Ala)
|
rs759587265
|
0.00006
|
|
NM_020822.3(KCNT1):c.2674G>A (p.Glu892Lys)
|
rs376757326
|
0.00006
|
|
NM_020822.3(KCNT1):c.3153G>A (p.Ser1051=)
|
rs141802876
|
0.00006
|
|
NM_020822.3(KCNT1):c.3281C>T (p.Thr1094Met)
|
rs373041291
|
0.00006
|
|
NM_020822.3(KCNT1):c.32G>A (p.Gly11Glu)
|
rs1003586835
|
0.00006
|
|
NM_020822.3(KCNT1):c.3575C>T (p.Pro1192Leu)
|
rs147654995
|
0.00006
|
|
NM_020921.4(NIN):c.5126A>G (p.Asn1709Ser)
|
rs387907308
|
0.00006
|
|
NM_020937.4(FANCM):c.1996A>G (p.Arg666Gly)
|
rs78437454
|
0.00006
|
|
NM_020937.4(FANCM):c.2330A>G (p.Tyr777Cys)
|
rs200173413
|
0.00006
|
|
NM_020937.4(FANCM):c.59C>G (p.Ser20Cys)
|
rs199699785
|
0.00006
|
|
NM_020944.3(GBA2):c.266G>C (p.Cys89Ser)
|
rs143885818
|
0.00006
|
|
NM_020975.6(RET):c.1894G>A (p.Glu632Lys)
|
rs377767407
|
0.00006
|
|
NM_020987.5(ANK3):c.2976G>A (p.Ala992=)
|
rs747475542
|
0.00006
|
|
NM_020987.5(ANK3):c.4699G>A (p.Val1567Met)
|
rs180798231
|
0.00006
|
|
NM_021008.4(DEAF1):c.1318G>A (p.Ala440Thr)
|
rs149746031
|
0.00006
|
|
NM_021098.3(CACNA1H):c.4567-4A>G
|
rs1055632728
|
0.00006
|
|
NM_021098.3(CACNA1H):c.4972A>G (p.Ile1658Val)
|
rs375017750
|
0.00006
|
|
NM_021098.3(CACNA1H):c.6412G>A (p.Val2138Met)
|
rs755669926
|
0.00006
|
|
NM_021167.5(GATAD1):c.-3A>G
|
rs776854919
|
0.00006
|
|
NM_021625.5(TRPV4):c.1139C>T (p.Thr380Met)
|
rs764949536
|
0.00006
|
|
NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter)
|
rs142902080
|
0.00006
|
|
NM_021625.5(TRPV4):c.963C>A (p.Gly321=)
|
rs148534854
|
0.00006
|
|
NM_021629.4(GNB4):c.204-4C>G
|
rs377746889
|
0.00006
|
|
NM_021922.3(FANCE):c.552A>C (p.Pro184=)
|
rs138182352
|
0.00006
|
|
NM_021939.4(FKBP10):c.1269G>A (p.Gly423=)
|
rs371540139
|
0.00006
|
|
NM_021957.4(GYS2):c.1880C>T (p.Ser627Leu)
|
rs182582633
|
0.00006
|
|
NM_022089.4(ATP13A2):c.1925C>T (p.Ala642Val)
|
rs147260398
|
0.00006
|
|
NM_022089.4(ATP13A2):c.745G>A (p.Ala249Thr)
|
rs199661793
|
0.00006
|
|
NM_022124.6(CDH23):c.1867G>A (p.Val623Ile)
|
rs143782870
|
0.00006
|
|
NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile)
|
rs397517321
|
0.00006
|
|
NM_022124.6(CDH23):c.3852G>A (p.Ser1284=)
|
rs372172457
|
0.00006
|
|
NM_022124.6(CDH23):c.460G>A (p.Val154Met)
|
rs199741966
|
0.00006
|
|
NM_022124.6(CDH23):c.5037C>T (p.Ile1679=)
|
rs757049933
|
0.00006
|
|
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln)
|
rs201434373
|
0.00006
|
|
NM_022124.6(CDH23):c.8344G>A (p.Asp2782Asn)
|
rs202147495
|
0.00006
|
|
NM_022124.6(CDH23):c.870C>T (p.Ser290=)
|
rs375292899
|
0.00006
|
|
NM_022124.6(CDH23):c.9058C>T (p.Arg3020Cys)
|
rs181658753
|
0.00006
|
|
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn)
|
rs368441850
|
0.00006
|
|
NM_022168.4(IFIH1):c.1243C>A (p.Gln415Lys)
|
rs575678322
|
0.00006
|
|
NM_022356.4(P3H1):c.756C>T (p.Tyr252=)
|
rs770943260
|
0.00006
|
|
NM_022437.3(ABCG8):c.1353C>T (p.Leu451=)
|
rs373560827
|
0.00006
|
|
NM_022437.3(ABCG8):c.2013A>G (p.Gln671=)
|
rs373862876
|
0.00006
|
|
NM_022489.4(INF2):c.2459G>A (p.Arg820Gln)
|
rs759989953
|
0.00006
|
|
NM_022489.4(INF2):c.2755C>G (p.Leu919Val)
|
rs377145979
|
0.00006
|
|
NM_022489.4(INF2):c.3059C>T (p.Ala1020Val)
|
rs368372551
|
0.00006
|
|
NM_022552.5(DNMT3A):c.76G>A (p.Gly26Arg)
|
rs781524740
|
0.00006
|
|
NM_022725.4(FANCF):c.148C>T (p.Arg50Trp)
|
rs577253174
|
0.00006
|
|
NM_024079.5(ALG8):c.984C>A (p.Val328=)
|
rs757467776
|
0.00006
|
|
NM_024120.5(NDUFAF5):c.667A>C (p.Asn223His)
|
rs199543540
|
0.00006
|
|
NM_024301.5(FKRP):c.1140G>A (p.Gly380=)
|
rs552260353
|
0.00006
|
|
NM_024334.3(TMEM43):c.797G>A (p.Arg266Gln)
|
rs193922707
|
0.00006
|
|
NM_024334.3(TMEM43):c.802C>T (p.Arg268Trp)
|
rs201138253
|
0.00006
|
|
NM_024408.4(NOTCH2):c.3702T>C (p.His1234=)
|
rs376503331
|
0.00006
|
|
NM_024408.4(NOTCH2):c.4312G>A (p.Val1438Ile)
|
rs745861610
|
0.00006
|
|
NM_024408.4(NOTCH2):c.7413G>A (p.Ala2471=)
|
rs771638958
|
0.00006
|
|
NM_024408.4(NOTCH2):c.956A>G (p.Asn319Ser)
|
rs144936899
|
0.00006
|
|
NM_024411.5(PDYN):c.520C>T (p.Arg174Cys)
|
rs567558964
|
0.00006
|
|
NM_024422.6(DSC2):c.1091T>G (p.Val364Gly)
|
rs368089478
|
0.00006
|
|
NM_024426.6(WT1):c.785G>A (p.Gly262Asp)
|
rs372225738
|
0.00006
|
|
NM_024589.3(ROGDI):c.822+14G>A
|
rs200558978
|
0.00006
|
|
NM_024596.5(MCPH1):c.445G>A (p.Val149Ile)
|
rs201403389
|
0.00006
|
|
NM_024598.4(USB1):c.213G>A (p.Val71=)
|
rs369515724
|
0.00006
|
|
NM_024598.4(USB1):c.525C>T (p.Val175=)
|
rs956040185
|
0.00006
|
|
NM_024649.5(BBS1):c.858C>T (p.Ile286=)
|
rs746775716
|
0.00006
|
|
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)
|
rs200620434
|
0.00006
|
|
NM_024675.4(PALB2):c.109C>A (p.Arg37Ser)
|
rs200048921
|
0.00006
|
|
NM_024675.4(PALB2):c.1273G>A (p.Val425Met)
|
rs576081828
|
0.00006
|
|
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)
|
rs62625284
|
0.00006
|
|
NM_024675.4(PALB2):c.560C>A (p.Pro187His)
|
rs371582757
|
0.00006
|
|
NM_024675.4(PALB2):c.929G>A (p.Ser310Asn)
|
rs370887726
|
0.00006
|
|
NM_024685.4(BBS10):c.440A>G (p.Gln147Arg)
|
rs140585012
|
0.00006
|
|
NM_024753.5(TTC21B):c.2378A>G (p.Tyr793Cys)
|
rs763158250
|
0.00006
|
|
NM_024757.5(EHMT1):c.188C>T (p.Ala63Val)
|
rs138292762
|
0.00006
|
|
NM_024757.5(EHMT1):c.2442C>T (p.Ala814=)
|
rs772286870
|
0.00006
|
|
NM_024757.5(EHMT1):c.3375G>C (p.Arg1125Ser)
|
rs764006601
|
0.00006
|
|
NM_025074.7(FRAS1):c.39G>A (p.Ala13=)
|
rs773457837
|
0.00006
|
|
NM_025074.7(FRAS1):c.4455G>T (p.Gln1485His)
|
rs532738580
|
0.00006
|
|
NM_025077.4(TOE1):c.776G>A (p.Arg259Gln)
|
rs144829269
|
0.00006
|
|
NM_025099.6(CTC1):c.2472C>T (p.Pro824=)
|
rs558802130
|
0.00006
|
|
NM_025114.4(CEP290):c.1440A>G (p.Glu480=)
|
rs777299440
|
0.00006
|
|
NM_025137.4(SPG11):c.1008-4C>T
|
rs369112409
|
0.00006
|
|
NM_025137.4(SPG11):c.2082C>T (p.Ser694=)
|
rs375179506
|
0.00006
|
|
NM_025137.4(SPG11):c.3145+12C>T
|
rs375672539
|
0.00006
|
|
NM_025137.4(SPG11):c.316G>A (p.Ala106Thr)
|
rs201842512
|
0.00006
|
|
NM_025137.4(SPG11):c.5270A>G (p.His1757Arg)
|
rs139423939
|
0.00006
|
|
NM_025137.4(SPG11):c.6944A>C (p.Asn2315Thr)
|
rs200276333
|
0.00006
|
|
NM_025137.4(SPG11):c.7146C>T (p.Ser2382=)
|
rs747227352
|
0.00006
|
|
NM_025137.4(SPG11):c.7249G>A (p.Glu2417Lys)
|
rs371313584
|
0.00006
|
|
NM_030662.4(MAP2K2):c.1112G>A (p.Arg371Gln)
|
rs730880514
|
0.00006
|
|
NM_030662.4(MAP2K2):c.451-7C>T
|
rs780396876
|
0.00006
|
|
NM_030665.4(RAI1):c.1488G>A (p.Pro496=)
|
rs727504116
|
0.00006
|
|
NM_030665.4(RAI1):c.2951C>T (p.Ala984Val)
|
rs371644042
|
0.00006
|
|
NM_030665.4(RAI1):c.3689C>A (p.Ala1230Glu)
|
rs374187267
|
0.00006
|
|
NM_030665.4(RAI1):c.4711G>A (p.Ala1571Thr)
|
rs779651867
|
0.00006
|
|
NM_030777.4(SLC2A10):c.1464C>T (p.Leu488=)
|
rs142639587
|
0.00006
|
|
NM_030777.4(SLC2A10):c.1605C>T (p.Ile535=)
|
rs148470005
|
0.00006
|
|
NM_030777.4(SLC2A10):c.599C>G (p.Pro200Arg)
|
rs75218052
|
0.00006
|
|
NM_030777.4(SLC2A10):c.961G>A (p.Val321Met)
|
rs372596900
|
0.00006
|
|
NM_030787.4(CFHR5):c.1322G>A (p.Arg441His)
|
rs776063846
|
0.00006
|
|
NM_030787.4(CFHR5):c.242C>T (p.Pro81Leu)
|
rs544857720
|
0.00006
|
|
NM_031372.4(HNRNPDL):c.1097G>C (p.Gly366Ala)
|
rs200123403
|
0.00006
|
|
NM_031407.7(HUWE1):c.147C>T (p.Cys49=)
|
rs149435515
|
0.00006
|
|
NM_031433.4(MFRP):c.898+5G>A
|
rs201089284
|
0.00006
|
|
NM_031892.3(SH3KBP1):c.1061C>T (p.Thr354Ile)
|
rs756363927
|
0.00006
|
|
NM_032043.3(BRIP1):c.1140+11G>A
|
rs369153270
|
0.00006
|
|
NM_032043.3(BRIP1):c.1629-3T>C
|
rs587780828
|
0.00006
|
|
NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr)
|
rs587780235
|
0.00006
|
|
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys)
|
rs45437094
|
0.00006
|
|
NM_032043.3(BRIP1):c.653G>A (p.Cys218Tyr)
|
rs754242563
|
0.00006
|
|
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu)
|
rs759031349
|
0.00006
|
|
NM_032119.4(ADGRV1):c.12778G>T (p.Val4260Leu)
|
rs773072116
|
0.00006
|
|
NM_032119.4(ADGRV1):c.13228G>A (p.Glu4410Lys)
|
rs371970388
|
0.00006
|
|
NM_032119.4(ADGRV1):c.13772C>T (p.Thr4591Ile)
|
rs369108080
|
0.00006
|
|
NM_032119.4(ADGRV1):c.14405G>A (p.Arg4802Gln)
|
rs534266547
|
0.00006
|
|
NM_032119.4(ADGRV1):c.15987C>T (p.Tyr5329=)
|
rs142097643
|
0.00006
|
|
NM_032119.4(ADGRV1):c.1684G>T (p.Ala562Ser)
|
rs199636312
|
0.00006
|
|
NM_032119.4(ADGRV1):c.17075A>G (p.Tyr5692Cys)
|
rs746621216
|
0.00006
|
|
NM_032119.4(ADGRV1):c.17187C>T (p.Cys5729=)
|
rs371639191
|
0.00006
|
|
NM_032119.4(ADGRV1):c.17920G>T (p.Ala5974Ser)
|
rs397517427
|
0.00006
|
|
NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser)
|
rs200058876
|
0.00006
|
|
NM_032119.4(ADGRV1):c.18209C>T (p.Thr6070Met)
|
rs776008411
|
0.00006
|
|
NM_032119.4(ADGRV1):c.3958C>T (p.Arg1320Cys)
|
rs532745096
|
0.00006
|
|
NM_032119.4(ADGRV1):c.8156-6T>C
|
rs574939589
|
0.00006
|
|
NM_032119.4(ADGRV1):c.9661G>A (p.Val3221Met)
|
rs368092861
|
0.00006
|
|
NM_032119.4(ADGRV1):c.9918A>G (p.Ile3306Met)
|
rs1264693693
|
0.00006
|
|
NM_032382.5(COG8):c.996C>T (p.Thr332=)
|
rs571595612
|
0.00006
|
|
NM_032409.3(PINK1):c.267C>T (p.Ala89=)
|
rs770933972
|
0.00006
|
|
NM_032415.7(CARD11):c.2239G>A (p.Val747Ile)
|
rs769577430
|
0.00006
|
|
NM_032415.7(CARD11):c.2899C>T (p.Arg967Cys)
|
rs149857605
|
0.00006
|
|
NM_032578.4(MYPN):c.2540G>T (p.Gly847Val)
|
rs181848049
|
0.00006
|
|
NM_033026.6(PCLO):c.929C>G (p.Thr310Ser)
|
rs377435737
|
0.00006
|
|
NM_033100.4(CDHR1):c.1471G>A (p.Val491Met)
|
rs138638103
|
0.00006
|
|
NM_033109.5(PNPT1):c.493C>T (p.Pro165Ser)
|
rs151166046
|
0.00006
|
|
NM_033109.5(PNPT1):c.667A>G (p.Lys223Glu)
|
rs752759589
|
0.00006
|
|
NM_033118.4(MYLK2):c.1204G>T (p.Val402Phe)
|
rs779637525
|
0.00006
|
|
NM_033118.4(MYLK2):c.425G>T (p.Gly142Val)
|
rs56385445
|
0.00006
|
|
NM_033305.3(VPS13A):c.9119G>A (p.Arg3040Gln)
|
rs148458576
|
0.00006
|
|
NM_033629.6(TREX1):c.219G>A (p.Pro73=)
|
rs778992418
|
0.00006
|
|
NM_052845.4(MMAB):c.150G>A (p.Ser50=)
|
rs754357121
|
0.00006
|
|
NM_052989.3(IFT122):c.1758C>G (p.His586Gln)
|
rs141889207
|
0.00006
|
|
NM_053025.4(MYLK):c.1752A>G (p.Leu584=)
|
rs775877814
|
0.00006
|
|
NM_053025.4(MYLK):c.1954C>G (p.Pro652Ala)
|
rs750686734
|
0.00006
|
|
NM_053025.4(MYLK):c.2049G>A (p.Gln683=)
|
rs757464897
|
0.00006
|
|
NM_053025.4(MYLK):c.2627G>A (p.Arg876His)
|
rs537224715
|
0.00006
|
|
NM_053025.4(MYLK):c.3184G>A (p.Ala1062Thr)
|
rs11558550
|
0.00006
|
|
NM_058216.3(RAD51C):c.134A>G (p.Glu45Gly)
|
rs587781383
|
0.00006
|
|
NM_058216.3(RAD51C):c.14C>T (p.Thr5Met)
|
rs201523760
|
0.00006
|
|
NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu)
|
rs573992101
|
0.00006
|
|
NM_058216.3(RAD51C):c.870T>A (p.Ile290=)
|
rs376402418
|
0.00006
|
|
NM_058246.4(DNAJB6):c.564C>T (p.Phe188=)
|
rs145897776
|
0.00006
|
|
NM_080680.3(COL11A2):c.1971+6C>T
|
rs746341530
|
0.00006
|
|
NM_080680.3(COL11A2):c.2271C>T (p.Gly757=)
|
rs745568808
|
0.00006
|
|
NM_080680.3(COL11A2):c.2560G>A (p.Ala854Thr)
|
rs371864924
|
0.00006
|
|
NM_080680.3(COL11A2):c.2684G>C (p.Gly895Ala)
|
rs555936455
|
0.00006
|
|
NM_080680.3(COL11A2):c.3092C>T (p.Pro1031Leu)
|
rs528009333
|
0.00006
|
|
NM_080680.3(COL11A2):c.3381G>C (p.Glu1127Asp)
|
rs768988213
|
0.00006
|
|
NM_080680.3(COL11A2):c.3583-3C>T
|
rs727502939
|
0.00006
|
|
NM_080680.3(COL11A2):c.3950T>C (p.Leu1317Pro)
|
rs145871842
|
0.00006
|
|
NM_080680.3(COL11A2):c.4559G>A (p.Arg1520His)
|
rs772567850
|
0.00006
|
|
NM_080680.3(COL11A2):c.4706G>A (p.Arg1569His)
|
rs749716412
|
0.00006
|
|
NM_080916.3(DGUOK):c.758A>G (p.Asn253Ser)
|
rs200169027
|
0.00006
|
|
NM_130849.4(SLC39A4):c.1323T>C (p.His441=)
|
rs143819461
|
0.00006
|
|
NM_133379.5(TTN):c.11278T>C (p.Tyr3760His)
|
rs377740664
|
0.00006
|
|
NM_133379.5(TTN):c.12226G>A (p.Glu4076Lys)
|
rs144690298
|
0.00006
|
|
NM_133379.5(TTN):c.15227C>T (p.Pro5076Leu)
|
rs201137248
|
0.00006
|
|
NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg)
|
rs199546324
|
0.00006
|
|
NM_133433.4(NIPBL):c.6589+9A>T
|
rs370709104
|
0.00006
|
|
NM_133497.4(KCNV2):c.647T>C (p.Ile216Thr)
|
rs558295858
|
0.00006
|
|
NM_133642.5(LARGE1):c.99C>T (p.Ser33=)
|
rs377353667
|
0.00006
|
|
NM_138413.4(HOGA1):c.828C>T (p.Asn276=)
|
rs201683794
|
0.00006
|
|
NM_138425.4(C12orf57):c.363C>T (p.Gly121=)
|
rs782694267
|
0.00006
|
|
NM_138477.4(CDAN1):c.2175-12T>C
|
rs1055175847
|
0.00006
|
|
NM_138694.4(PKHD1):c.12106C>T (p.Arg4036Trp)
|
rs201210830
|
0.00006
|
|
NM_138694.4(PKHD1):c.1816C>T (p.Arg606Trp)
|
rs560133266
|
0.00006
|
|
NM_138694.4(PKHD1):c.2091G>A (p.Thr697=)
|
rs147826962
|
0.00006
|
|
NM_138694.4(PKHD1):c.2703C>T (p.Asn901=)
|
rs199768081
|
0.00006
|
|
NM_138694.4(PKHD1):c.3628+9C>A
|
rs552339299
|
0.00006
|
|
NM_138694.4(PKHD1):c.3891G>A (p.Ala1297=)
|
rs775529923
|
0.00006
|
|
NM_138694.4(PKHD1):c.4547C>T (p.Pro1516Leu)
|
rs200278368
|
0.00006
|
|
NM_138694.4(PKHD1):c.5112C>T (p.Cys1704=)
|
rs202010726
|
0.00006
|
|
NM_138694.4(PKHD1):c.5772C>T (p.Phe1924=)
|
rs141473212
|
0.00006
|
|
NM_138694.4(PKHD1):c.7163G>A (p.Gly2388Asp)
|
rs371830478
|
0.00006
|
|
NM_138694.4(PKHD1):c.8319G>A (p.Val2773=)
|
rs374869252
|
0.00006
|
|
NM_138694.4(PKHD1):c.8335T>G (p.Phe2779Val)
|
rs144106341
|
0.00006
|
|
NM_138694.4(PKHD1):c.9576C>T (p.Ser3192=)
|
rs201670044
|
0.00006
|
|
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys)
|
rs141081295
|
0.00006
|
|
NM_138927.4(SON):c.6657+147C>T
|
rs756936782
|
0.00006
|
|
NM_139058.3(ARX):c.1170C>T (p.Gly390=)
|
rs761632870
|
0.00006
|
|
NM_139058.3(ARX):c.211A>T (p.Ser71Cys)
|
rs587783194
|
0.00006
|
|
NM_139343.3(BIN1):c.1359G>A (p.Pro453=)
|
rs201397427
|
0.00006
|
|
NM_139343.3(BIN1):c.1479C>T (p.Val493=)
|
rs773313892
|
0.00006
|
|
NM_144508.5(KNL1):c.1768G>T (p.Ala590Ser)
|
rs201334214
|
0.00006
|
|
NM_144508.5(KNL1):c.3573A>G (p.Ile1191Met)
|
rs200222327
|
0.00006
|
|
NM_144596.4(TTC8):c.4A>G (p.Ser2Gly)
|
rs759112760
|
0.00006
|
|
NM_144670.6(A2ML1):c.418C>T (p.Arg140Cys)
|
rs199919065
|
0.00006
|
|
NM_144670.6(A2ML1):c.692C>T (p.Thr231Met)
|
rs202211381
|
0.00006
|
|
NM_144670.6(A2ML1):c.973G>A (p.Val325Met)
|
rs749156731
|
0.00006
|
|
NM_144672.4(OTOA):c.1488+8G>A
|
rs375767505
|
0.00006
|
|
NM_144997.7(FLCN):c.1274A>G (p.Gln425Arg)
|
rs786203348
|
0.00006
|
|
NM_144997.7(FLCN):c.444C>T (p.His148=)
|
rs376825814
|
0.00006
|
|
NM_145239.3(PRRT2):c.643C>T (p.Pro215Ser)
|
rs374642875
|
0.00006
|
|
NM_147127.5(EVC2):c.887G>C (p.Gly296Ala)
|
rs201083070
|
0.00006
|
|
NM_152296.5(ATP1A3):c.191G>A (p.Arg64Gln)
|
rs201573515
|
0.00006
|
|
NM_152296.5(ATP1A3):c.2139C>G (p.Pro713=)
|
rs141362710
|
0.00006
|
|
NM_152296.5(ATP1A3):c.55C>T (p.Arg19Cys)
|
rs782229302
|
0.00006
|
|
NM_152564.5(VPS13B):c.10959G>A (p.Pro3653=)
|
rs771022240
|
0.00006
|
|
NM_152564.5(VPS13B):c.11216-6T>C
|
rs780721865
|
0.00006
|
|
NM_152564.5(VPS13B):c.7801G>A (p.Glu2601Lys)
|
rs144350008
|
0.00006
|
|
NM_152564.5(VPS13B):c.9645C>T (p.Leu3215=)
|
rs373968888
|
0.00006
|
|
NM_152722.5(HEPACAM):c.703G>A (p.Val235Ile)
|
rs149093986
|
0.00006
|
|
NM_153240.5(NPHP3):c.255G>A (p.Glu85=)
|
rs146839563
|
0.00006
|
|
NM_153603.4(COG7):c.1851C>T (p.Pro617=)
|
rs748835759
|
0.00006
|
|
NM_153676.4(USH1C):c.1678G>C (p.Ala560Pro)
|
rs367952604
|
0.00006
|
|
NM_170707.4(LMNA):c.1149G>A (p.Glu383=)
|
rs267607603
|
0.00006
|
|
NM_170707.4(LMNA):c.1381-6C>T
|
rs371635492
|
0.00006
|
|
NM_170707.4(LMNA):c.937-7C>G
|
rs267607681
|
0.00006
|
|
NM_170784.3(MKKS):c.757T>C (p.Ser253Pro)
|
rs201785599
|
0.00006
|
|
NM_172107.4(KCNQ2):c.2572G>A (p.Gly858Ser)
|
rs756609768
|
0.00006
|
|
NM_172107.4(KCNQ2):c.774C>T (p.Asn258=)
|
rs770187706
|
0.00006
|
|
NM_172250.3(MMAA):c.1193T>C (p.Ile398Thr)
|
rs777459994
|
0.00006
|
|
NM_173354.5(SIK1):c.1934G>A (p.Arg645Gln)
|
rs34614061
|
0.00006
|
|
NM_173500.4(TTBK2):c.1274G>A (p.Arg425His)
|
rs370495535
|
0.00006
|
|
NM_173630.4(RTTN):c.4253T>C (p.Val1418Ala)
|
rs376967382
|
0.00006
|
|
NM_173630.4(RTTN):c.4564+8C>T
|
rs563328673
|
0.00006
|
|
NM_173630.4(RTTN):c.4877C>T (p.Thr1626Met)
|
rs781683199
|
0.00006
|
|
NM_173660.5(DOK7):c.1133C>T (p.Ala378Val)
|
rs371846002
|
0.00006
|
|
NM_173689.7(CRB2):c.3754C>T (p.Arg1252Cys)
|
rs537738396
|
0.00006
|
|
NM_174936.4(PCSK9):c.1227C>T (p.Ala409=)
|
rs146924245
|
0.00006
|
|
NM_174936.4(PCSK9):c.1384T>C (p.Ser462Pro)
|
rs746115963
|
0.00006
|
|
NM_174936.4(PCSK9):c.658-9G>A
|
rs757194881
|
0.00006
|
|
NM_175875.5(SIX5):c.1498G>A (p.Gly500Arg)
|
rs766460655
|
0.00006
|
|
NM_175875.5(SIX5):c.1582C>G (p.Leu528Val)
|
rs780053382
|
0.00006
|
|
NM_175914.5(HNF4A):c.353G>A (p.Arg118Gln)
|
rs764196059
|
0.00006
|
|
NM_175914.5(HNF4A):c.381G>A (p.Leu127=)
|
rs193922473
|
0.00006
|
|
NM_177438.3(DICER1):c.2720T>C (p.Ile907Thr)
|
rs200408568
|
0.00006
|
|
NM_177438.3(DICER1):c.2898A>G (p.Glu966=)
|
rs375772460
|
0.00006
|
|
NM_177438.3(DICER1):c.3939G>A (p.Glu1313=)
|
rs191567701
|
0.00006
|
|
NM_177550.5(SLC13A5):c.714C>T (p.Asn238=)
|
rs754553205
|
0.00006
|
|
NM_178170.3(NEK8):c.1539T>C (p.Pro513=)
|
rs368315047
|
0.00006
|
|
NM_178172.6(GPIHBP1):c.191G>A (p.Arg64Gln)
|
rs578073937
|
0.00006
|
|
NM_181332.3(NLGN4X):c.48G>A (p.Pro16=)
|
rs398124365
|
0.00006
|
|
NM_181712.5(KANK4):c.2095del (p.Cys699fs)
|
rs775562315
|
0.00006
|
|
NM_182760.4(SUMF1):c.237C>G (p.Pro79=)
|
rs11555132
|
0.00006
|
|
NM_182760.4(SUMF1):c.271-7A>G
|
rs371283922
|
0.00006
|
|
NM_182914.3(SYNE2):c.10495A>C (p.Lys3499Gln)
|
rs752900825
|
0.00006
|
|
NM_182914.3(SYNE2):c.12614C>T (p.Thr4205Ile)
|
rs376207235
|
0.00006
|
|
NM_182914.3(SYNE2):c.15689A>G (p.Lys5230Arg)
|
rs146573874
|
0.00006
|
|
NM_182914.3(SYNE2):c.19142G>A (p.Arg6381Gln)
|
rs140857065
|
0.00006
|
|
NM_182914.3(SYNE2):c.19501C>T (p.Pro6501Ser)
|
rs200937358
|
0.00006
|
|
NM_182914.3(SYNE2):c.303A>G (p.Leu101=)
|
rs371277498
|
0.00006
|
|
NM_182914.3(SYNE2):c.5893A>G (p.Lys1965Glu)
|
rs80046702
|
0.00006
|
|
NM_182914.3(SYNE2):c.8691G>C (p.Glu2897Asp)
|
rs758754933
|
0.00006
|
|
NM_182961.4(SYNE1):c.10149A>G (p.Gln3383=)
|
rs369227827
|
0.00006
|
|
NM_182961.4(SYNE1):c.12798T>A (p.Ser4266=)
|
rs373438870
|
0.00006
|
|
NM_182961.4(SYNE1):c.14727G>A (p.Gly4909=)
|
rs767294195
|
0.00006
|
|
NM_182961.4(SYNE1):c.20027G>A (p.Arg6676Gln)
|
rs190673256
|
0.00006
|
|
NM_182961.4(SYNE1):c.2893-5G>A
|
rs370196519
|
0.00006
|
|
NM_182961.4(SYNE1):c.3436C>G (p.Gln1146Glu)
|
rs760256766
|
0.00006
|
|
NM_182961.4(SYNE1):c.3879G>A (p.Gln1293=)
|
rs754584363
|
0.00006
|
|
NM_182961.4(SYNE1):c.8403C>T (p.Tyr2801=)
|
rs757104773
|
0.00006
|
|
NM_183381.3(RNF13):c.980C>T (p.Ser327Leu)
|
rs200489974
|
0.00006
|
|
NM_194248.3(OTOF):c.2253G>A (p.Thr751=)
|
rs201888333
|
0.00006
|
|
NM_194248.3(OTOF):c.2359C>T (p.Arg787Cys)
|
rs574277214
|
0.00006
|
|
NM_194277.3(FRMD7):c.899G>A (p.Arg300His)
|
rs773529900
|
0.00006
|
|
NM_194318.4(B3GLCT):c.71-9T>C
|
rs569540121
|
0.00006
|
|
NM_198525.3(KIF7):c.1296G>A (p.Leu432=)
|
rs886051533
|
0.00006
|
|
NM_198525.3(KIF7):c.2322C>A (p.Leu774=)
|
rs145339415
|
0.00006
|
|
NM_198525.3(KIF7):c.588G>T (p.Leu196=)
|
rs191721354
|
0.00006
|
|
NM_198525.3(KIF7):c.924-14C>T
|
rs573998309
|
0.00006
|
|
NM_198904.4(GABRG2):c.1254C>T (p.Asp418=)
|
rs113085352
|
0.00006
|
|
NM_198904.4(GABRG2):c.41A>G (p.Tyr14Cys)
|
rs61750979
|
0.00006
|
|
NM_198994.3(TGM6):c.1303G>A (p.Val435Met)
|
rs769042038
|
0.00006
|
|
NM_198994.3(TGM6):c.1968C>T (p.Asp656=)
|
rs141258102
|
0.00006
|
|
NM_199242.3(UNC13D):c.1014C>T (p.His338=)
|
rs375097777
|
0.00006
|
|
NM_201384.3(PLEC):c.10178C>T (p.Ala3393Val)
|
rs370079447
|
0.00006
|
|
NM_201384.3(PLEC):c.10413G>A (p.Thr3471=)
|
rs782728053
|
0.00006
|
|
NM_201384.3(PLEC):c.10925A>G (p.Tyr3642Cys)
|
rs782531580
|
0.00006
|
|
NM_201384.3(PLEC):c.1122C>T (p.His374=)
|
rs372270485
|
0.00006
|
|
NM_201384.3(PLEC):c.1123G>A (p.Val375Met)
|
rs199866423
|
0.00006
|
|
NM_201384.3(PLEC):c.11602G>A (p.Asp3868Asn)
|
rs782028739
|
0.00006
|
|
NM_201384.3(PLEC):c.11642G>A (p.Arg3881His)
|
rs199504789
|
0.00006
|
|
NM_201384.3(PLEC):c.11721G>A (p.Thr3907=)
|
rs371520192
|
0.00006
|
|
NM_201384.3(PLEC):c.11844G>A (p.Ser3948=)
|
rs782025071
|
0.00006
|
|
NM_201384.3(PLEC):c.13401C>T (p.Ala4467=)
|
rs782114678
|
0.00006
|
|
NM_201384.3(PLEC):c.13529G>T (p.Gly4510Val)
|
rs782174299
|
0.00006
|
|
NM_201384.3(PLEC):c.1668C>T (p.Gly556=)
|
rs369796183
|
0.00006
|
|
NM_201384.3(PLEC):c.1676G>A (p.Arg559Gln)
|
rs376555091
|
0.00006
|
|
NM_201384.3(PLEC):c.2643G>A (p.Thr881=)
|
rs369973592
|
0.00006
|
|
NM_201384.3(PLEC):c.3186G>A (p.Thr1062=)
|
rs782437578
|
0.00006
|
|
NM_201384.3(PLEC):c.3369G>A (p.Pro1123=)
|
rs371882486
|
0.00006
|
|
NM_201384.3(PLEC):c.4134G>A (p.Ala1378=)
|
rs558224639
|
0.00006
|
|
NM_201384.3(PLEC):c.4293G>A (p.Ala1431=)
|
rs782198489
|
0.00006
|
|
NM_201384.3(PLEC):c.4839G>A (p.Arg1613=)
|
rs554561043
|
0.00006
|
|
NM_201384.3(PLEC):c.5331G>C (p.Glu1777Asp)
|
rs774270631
|
0.00006
|
|
NM_201384.3(PLEC):c.6469C>G (p.Leu2157Val)
|
rs558775133
|
0.00006
|
|
NM_201384.3(PLEC):c.8799C>T (p.Phe2933=)
|
rs371751910
|
0.00006
|
|
NM_201384.3(PLEC):c.9295G>A (p.Glu3099Lys)
|
rs782532815
|
0.00006
|
|
NM_201525.4(ADGRG1):c.1744A>T (p.Met582Leu)
|
rs775708467
|
0.00006
|
|
NM_201525.4(ADGRG1):c.27G>A (p.Thr9=)
|
rs142223451
|
0.00006
|
|
NM_201596.3(CACNB2):c.1206+3A>T
|
rs200174877
|
0.00006
|
|
NM_201596.3(CACNB2):c.1303-4G>A
|
rs765944934
|
0.00006
|
|
NM_203447.4(DOCK8):c.2779A>G (p.Ile927Val)
|
rs759239515
|
0.00006
|
|
NM_203447.4(DOCK8):c.4346C>T (p.Ser1449Leu)
|
rs370123223
|
0.00006
|
|
NM_206933.4(USH2A):c.1143+12C>T
|
rs727505167
|
0.00006
|
|
NM_206933.4(USH2A):c.14191G>A (p.Gly4731Arg)
|
rs148674752
|
0.00006
|
|
NM_206933.4(USH2A):c.2365G>A (p.Val789Ile)
|
rs199571930
|
0.00006
|
|
NM_206933.4(USH2A):c.4030A>G (p.Met1344Val)
|
rs727503732
|
0.00006
|
|
NM_206933.4(USH2A):c.7227T>C (p.Thr2409=)
|
rs141917231
|
0.00006
|
|
NM_206933.4(USH2A):c.8846-7T>C
|
rs769662049
|
0.00006
|
|
NM_206937.2(LIG4):c.1830C>T (p.Leu610=)
|
rs768563098
|
0.00006
|
|
NM_206937.2(LIG4):c.500T>G (p.Ile167Arg)
|
rs138021217
|
0.00006
|
|
NM_207361.6(FREM2):c.1647C>A (p.Phe549Leu)
|
rs114341997
|
0.00006
|
|
NM_207391.3(RGS9BP):c.96C>G (p.Asp32Glu)
|
rs201148742
|
0.00006
|
|
NM_212482.4(FN1):c.3289G>A (p.Glu1097Lys)
|
rs753807100
|
0.00006
|
|
NM_000018.4(ACADVL):c.1077+16G>A
|
rs780420241
|
0.00005
|
|
NM_000033.4(ABCD1):c.392G>T (p.Gly131Val)
|
rs367799134
|
0.00005
|
|
NM_000033.4(ABCD1):c.55G>T (p.Ala19Ser)
|
rs965462099
|
0.00005
|
|
NM_000037.4(ANK1):c.1197G>A (p.Ala399=)
|
rs756075877
|
0.00005
|
|
NM_000038.6(APC):c.2438A>G (p.Asn813Ser)
|
rs201522866
|
0.00005
|
|
NM_000038.6(APC):c.3625G>A (p.Glu1209Lys)
|
rs201185479
|
0.00005
|
|
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser)
|
rs143796828
|
0.00005
|
|
NM_000038.6(APC):c.4424C>T (p.Ala1475Val)
|
rs375380414
|
0.00005
|
|
NM_000038.6(APC):c.5879C>T (p.Pro1960Leu)
|
rs587781546
|
0.00005
|
|
NM_000038.6(APC):c.7986G>A (p.Glu2662=)
|
rs571645304
|
0.00005
|
|
NM_000048.4(ASL):c.75C>T (p.Asn25=)
|
rs370260834
|
0.00005
|
|
NM_000049.4(ASPA):c.840C>T (p.Pro280=)
|
rs148081446
|
0.00005
|
|
NM_000051.4(ATM):c.2220A>G (p.Ala740=)
|
rs56353517
|
0.00005
|
|
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu)
|
rs587782397
|
0.00005
|
|
NM_000051.4(ATM):c.2919A>G (p.Leu973=)
|
rs587779829
|
0.00005
|
|
NM_000051.4(ATM):c.3016A>G (p.Met1006Val)
|
rs139893395
|
0.00005
|
|
NM_000051.4(ATM):c.4109+6T>C
|
rs368606937
|
0.00005
|
|
NM_000051.4(ATM):c.4665C>T (p.Leu1555=)
|
rs374431061
|
0.00005
|
|
NM_000051.4(ATM):c.4724G>A (p.Arg1575His)
|
rs550552791
|
0.00005
|
|
NM_000052.7(ATP7A):c.1721C>T (p.Thr574Met)
|
rs782076879
|
0.00005
|
|
NM_000052.7(ATP7A):c.4312G>A (p.Val1438Ile)
|
rs782682493
|
0.00005
|
|
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=)
|
rs398123136
|
0.00005
|
|
NM_000053.4(ATP7B):c.2604C>T (p.Pro868=)
|
rs368902724
|
0.00005
|
|
NM_000059.4(BRCA2):c.1694C>T (p.Ala565Val)
|
rs55821741
|
0.00005
|
|
NM_000059.4(BRCA2):c.2550A>G (p.Gln850=)
|
rs80359785
|
0.00005
|
|
NM_000059.4(BRCA2):c.2884C>T (p.His962Tyr)
|
rs755777807
|
0.00005
|
|
NM_000059.4(BRCA2):c.3539A>G (p.Lys1180Arg)
|
rs28897720
|
0.00005
|
|
NM_000059.4(BRCA2):c.5268A>G (p.Val1756=)
|
rs199879914
|
0.00005
|
|
NM_000059.4(BRCA2):c.5552T>G (p.Ile1851Ser)
|
rs80358776
|
0.00005
|
|
NM_000059.4(BRCA2):c.5985C>T (p.Asn1995=)
|
rs374620036
|
0.00005
|
|
NM_000059.4(BRCA2):c.6024G>C (p.Lys2008Asn)
|
rs56324666
|
0.00005
|
|
NM_000059.4(BRCA2):c.695A>G (p.Tyr232Cys)
|
rs372188754
|
0.00005
|
|
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly)
|
rs80358932
|
0.00005
|
|
NM_000059.4(BRCA2):c.796T>C (p.Phe266Leu)
|
rs587782433
|
0.00005
|
|
NM_000059.4(BRCA2):c.8090G>A (p.Ser2697Asn)
|
rs80359051
|
0.00005
|
|
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr)
|
rs80359052
|
0.00005
|
|
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His)
|
rs80359105
|
0.00005
|
|
NM_000059.4(BRCA2):c.8755-9T>C
|
rs397507413
|
0.00005
|
|
NM_000059.4(BRCA2):c.8807T>C (p.Leu2936Ser)
|
rs398122714
|
0.00005
|
|
NM_000059.4(BRCA2):c.9087G>A (p.Ala3029=)
|
rs368576266
|
0.00005
|
|
NM_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys)
|
rs80359195
|
0.00005
|
|
NM_000059.4(BRCA2):c.9353T>C (p.Met3118Thr)
|
rs56204128
|
0.00005
|
|
NM_000069.3(CACNA1S):c.1091G>A (p.Arg364Gln)
|
rs763360081
|
0.00005
|
|
NM_000069.3(CACNA1S):c.1352C>T (p.Ser451Leu)
|
rs35521793
|
0.00005
|
|
NM_000069.3(CACNA1S):c.2726A>G (p.Asn909Ser)
|
rs139935847
|
0.00005
|
|
NM_000069.3(CACNA1S):c.398+3G>A
|
rs764710968
|
0.00005
|
|
NM_000069.3(CACNA1S):c.4170C>G (p.Asp1390Glu)
|
rs371849585
|
0.00005
|
|
NM_000070.3(CAPN3):c.1437C>T (p.Ser479=)
|
rs147914333
|
0.00005
|
|
NM_000070.3(CAPN3):c.945+14C>T
|
rs763112832
|
0.00005
|
|
NM_000077.5(CDKN2A):c.160A>C (p.Met54Leu)
|
rs201314211
|
0.00005
|
|
NM_000090.4(COL3A1):c.1188C>T (p.Gly396=)
|
rs745743884
|
0.00005
|
|
NM_000091.5(COL4A3):c.3577G>A (p.Asp1193Asn)
|
rs972796332
|
0.00005
|
|
NM_000092.5(COL4A4):c.1630C>T (p.His544Tyr)
|
rs745815071
|
0.00005
|
|
NM_000092.5(COL4A4):c.2570C>T (p.Pro857Leu)
|
rs533602128
|
0.00005
|
|
NM_000092.5(COL4A4):c.2589C>T (p.Pro863=)
|
rs772517977
|
0.00005
|
|
NM_000092.5(COL4A4):c.4390G>A (p.Gly1464Ser)
|
rs372558522
|
0.00005
|
|
NM_000092.5(COL4A4):c.4578C>T (p.Asn1526=)
|
rs202109186
|
0.00005
|
|
NM_000092.5(COL4A4):c.928C>T (p.Arg310Trp)
|
rs200817090
|
0.00005
|
|
NM_000093.5(COL5A1):c.5293C>T (p.Arg1765Cys)
|
rs199703883
|
0.00005
|
|
NM_000094.4(COL7A1):c.1428G>A (p.Pro476=)
|
rs138330564
|
0.00005
|
|
NM_000094.4(COL7A1):c.3837G>A (p.Arg1279=)
|
rs146903823
|
0.00005
|
|
NM_000094.4(COL7A1):c.4012-9C>T
|
rs763087515
|
0.00005
|
|
NM_000096.4(CP):c.1131C>T (p.Ala377=)
|
rs150733154
|
0.00005
|
|
NM_000098.3(CPT2):c.1335C>T (p.Cys445=)
|
rs143075786
|
0.00005
|
|
NM_000112.4(SLC26A2):c.1194A>T (p.Val398=)
|
rs886038240
|
0.00005
|
|
NM_000117.3(EMD):c.525C>T (p.Ser175=)
|
rs782367505
|
0.00005
|
|
NM_000124.4(ERCC6):c.2989A>G (p.Lys997Glu)
|
rs375181157
|
0.00005
|
|
NM_000130.5(F5):c.1033C>T (p.Arg345Trp)
|
rs746260106
|
0.00005
|
|
NM_000130.5(F5):c.1300G>A (p.Val434Met)
|
rs574610215
|
0.00005
|
|
NM_000130.5(F5):c.165T>C (p.Asn55=)
|
rs781434840
|
0.00005
|
|
NM_000130.5(F5):c.3801T>C (p.Leu1267=)
|
rs559683767
|
0.00005
|
|
NM_000132.4(F8):c.748A>G (p.Met250Val)
|
rs781943293
|
0.00005
|
|
NM_000135.4(FANCA):c.2015-5C>T
|
rs780349960
|
0.00005
|
|
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn)
|
rs201589909
|
0.00005
|
|
NM_000135.4(FANCA):c.2152-13T>C
|
rs752105563
|
0.00005
|
|
NM_000135.4(FANCA):c.2212C>T (p.Pro738Ser)
|
rs751015814
|
0.00005
|
|
NM_000135.4(FANCA):c.2735C>T (p.Thr912Ile)
|
rs376302719
|
0.00005
|
|
NM_000135.4(FANCA):c.2778+10C>T
|
rs371786839
|
0.00005
|
|
NM_000135.4(FANCA):c.4325C>G (p.Ala1442Gly)
|
rs144171225
|
0.00005
|
|
NM_000135.4(FANCA):c.527C>T (p.Ser176Phe)
|
rs35566151
|
0.00005
|
|
NM_000135.4(FANCA):c.953G>T (p.Arg318Met)
|
rs72552377
|
0.00005
|
|
NM_000136.3(FANCC):c.1560C>T (p.His520=)
|
rs150020474
|
0.00005
|
|
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly)
|
rs587779905
|
0.00005
|
|
NM_000138.5(FBN1):c.2927G>A (p.Arg976His)
|
rs140954477
|
0.00005
|
|
NM_000138.5(FBN1):c.346+16C>T
|
rs369090026
|
0.00005
|
|
NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg)
|
rs372118067
|
0.00005
|
|
NM_000138.5(FBN1):c.6852T>C (p.Pro2284=)
|
rs201226058
|
0.00005
|
|
NM_000138.5(FBN1):c.7051G>A (p.Gly2351Ser)
|
rs746127796
|
0.00005
|
|
NM_000138.5(FBN1):c.7820-4G>A
|
rs750036723
|
0.00005
|
|
NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val)
|
rs202240409
|
0.00005
|
|
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys)
|
rs187553035
|
0.00005
|
|
NM_000138.5(FBN1):c.83A>G (p.Asn28Ser)
|
rs193922245
|
0.00005
|
|
NM_000141.5(FGFR2):c.780C>T (p.Ala260=)
|
rs778288494
|
0.00005
|
|
NM_000143.4(FH):c.63C>T (p.Ala21=)
|
rs555404867
|
0.00005
|
|
NM_000147.5(FUCA1):c.936G>A (p.Leu312=)
|
rs140932886
|
0.00005
|
|
NM_000152.5(GAA):c.1075+9T>C
|
rs751918816
|
0.00005
|
|
NM_000152.5(GAA):c.1425G>A (p.Pro475=)
|
rs753140491
|
0.00005
|
|
NM_000152.5(GAA):c.2418G>A (p.Thr806=)
|
rs371528938
|
0.00005
|
|
NM_000152.5(GAA):c.2481+15C>T
|
rs771155956
|
0.00005
|
|
NM_000152.5(GAA):c.510C>T (p.Asp170=)
|
rs564758226
|
0.00005
|
|
NM_000153.4(GALC):c.195+15G>A
|
rs748140458
|
0.00005
|
|
NM_000154.2(GALK1):c.1152C>T (p.Ala384=)
|
rs373041566
|
0.00005
|
|
NM_000154.2(GALK1):c.935G>A (p.Arg312His)
|
rs181526665
|
0.00005
|
|
NM_000158.4(GBE1):c.1392C>T (p.Leu464=)
|
rs563241317
|
0.00005
|
|
NM_000159.4(GCDH):c.1092C>T (p.Pro364=)
|
rs146363703
|
0.00005
|
|
NM_000169.3(GLA):c.755G>C (p.Arg252Thr)
|
rs147026639
|
0.00005
|
|
NM_000170.3(GLDC):c.1791G>C (p.Glu597Asp)
|
rs141875337
|
0.00005
|
|
NM_000170.3(GLDC):c.576C>G (p.Ala192=)
|
rs768514155
|
0.00005
|
|
NM_000179.3(MSH6):c.147C>T (p.Ala49=)
|
rs768803986
|
0.00005
|
|
NM_000179.3(MSH6):c.1746T>G (p.Phe582Leu)
|
rs201518545
|
0.00005
|
|
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser)
|
rs730881793
|
0.00005
|
|
NM_000179.3(MSH6):c.2173A>G (p.Ile725Val)
|
rs148898662
|
0.00005
|
|
NM_000179.3(MSH6):c.2562G>T (p.Lys854Asn)
|
rs759048538
|
0.00005
|
|
NM_000179.3(MSH6):c.3513T>C (p.Asp1171=)
|
rs63749834
|
0.00005
|
|
NM_000179.3(MSH6):c.3762A>T (p.Glu1254Asp)
|
rs375459388
|
0.00005
|
|
NM_000180.4(GUCY2D):c.271G>C (p.Ala91Pro)
|
rs573367793
|
0.00005
|
|
NM_000181.4(GUSB):c.211-8C>G
|
rs2293340
|
0.00005
|
|
NM_000191.3(HMGCL):c.720A>G (p.Gln240=)
|
rs911190800
|
0.00005
|
|
NM_000195.5(HPS1):c.1585A>G (p.Ile529Val)
|
rs569192835
|
0.00005
|
|
NM_000198.4(HSD3B2):c.13T>A (p.Cys5Ser)
|
rs376207606
|
0.00005
|
|
NM_000203.5(IDUA):c.1728-9C>T
|
rs374775605
|
0.00005
|
|
NM_000211.5(ITGB2):c.1320G>C (p.Gln440His)
|
rs138703739
|
0.00005
|
|
NM_000211.5(ITGB2):c.897+14C>A
|
rs374471192
|
0.00005
|
|
NM_000214.3(JAG1):c.1195G>A (p.Val399Met)
|
rs181970528
|
0.00005
|
|
NM_000214.3(JAG1):c.2781C>T (p.Val927=)
|
rs746664646
|
0.00005
|
|
NM_000214.3(JAG1):c.3570G>A (p.Pro1190=)
|
rs201572666
|
0.00005
|
|
NM_000215.4(JAK3):c.2062A>T (p.Ile688Phe)
|
rs35785705
|
0.00005
|
|
NM_000219.6(KCNE1):c.-5C>A
|
rs191334763
|
0.00005
|
|
NM_000219.6(KCNE1):c.139G>A (p.Val47Ile)
|
rs199473353
|
0.00005
|
|
NM_000231.3(SGCG):c.414A>G (p.Gln138=)
|
rs770596449
|
0.00005
|
|
NM_000235.4(LIPA):c.342C>T (p.Asp114=)
|
rs371133960
|
0.00005
|
|
NM_000238.4(KCNH2):c.2750C>T (p.Pro917Leu)
|
rs76420733
|
0.00005
|
|
NM_000238.4(KCNH2):c.3436A>T (p.Thr1146Ser)
|
rs778879572
|
0.00005
|
|
NM_000238.4(KCNH2):c.443G>A (p.Arg148Gln)
|
rs374912424
|
0.00005
|
|
NM_000243.3(MEFV):c.2337G>C (p.Gly779=)
|
rs104895153
|
0.00005
|
|
NM_000243.3(MEFV):c.460T>C (p.Ser154Pro)
|
rs756975501
|
0.00005
|
|
NM_000245.4(MET):c.100G>A (p.Glu34Lys)
|
rs764246939
|
0.00005
|
|
NM_000245.4(MET):c.632T>G (p.Leu211Trp)
|
rs45483396
|
0.00005
|
|
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys)
|
rs63750760
|
0.00005
|
|
NM_000249.4(MLH1):c.1154G>A (p.Arg385His)
|
rs63750430
|
0.00005
|
|
NM_000249.4(MLH1):c.438A>G (p.Gln146=)
|
rs377279035
|
0.00005
|
|
NM_000249.4(MLH1):c.80G>A (p.Arg27Gln)
|
rs138705565
|
0.00005
|
|
NM_000251.3(MSH2):c.1473G>T (p.Lys491Asn)
|
rs1064795039
|
0.00005
|
|
NM_000251.3(MSH2):c.1774A>G (p.Met592Val)
|
rs371614039
|
0.00005
|
|
NM_000251.3(MSH2):c.2267C>G (p.Thr756Ser)
|
rs372383829
|
0.00005
|
|
NM_000251.3(MSH2):c.2694A>C (p.Glu898Asp)
|
rs890670494
|
0.00005
|
|
NM_000251.3(MSH2):c.843A>T (p.Ser281=)
|
rs150197753
|
0.00005
|
|
NM_000251.3(MSH2):c.885C>G (p.Asp295Glu)
|
rs201334592
|
0.00005
|
|
NM_000254.3(MTR):c.2994C>T (p.Asn998=)
|
rs778549407
|
0.00005
|
|
NM_000256.3(MYBPC3):c.1227-10C>T
|
rs374673836
|
0.00005
|
|
NM_000256.3(MYBPC3):c.3190+4C>T
|
rs571457875
|
0.00005
|
|
NM_000256.3(MYBPC3):c.534G>T (p.Val178=)
|
rs759249105
|
0.00005
|
|
NM_000257.4(MYH7):c.4010G>A (p.Arg1337Gln)
|
rs368575559
|
0.00005
|
|
NM_000257.4(MYH7):c.5559+4C>T
|
rs727504319
|
0.00005
|
|
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln)
|
rs201178011
|
0.00005
|
|
NM_000260.4(MYO7A):c.3670G>A (p.Ala1224Thr)
|
rs748928605
|
0.00005
|
|
NM_000260.4(MYO7A):c.4804C>T (p.Arg1602Trp)
|
rs373048784
|
0.00005
|
|
NM_000260.4(MYO7A):c.5033G>A (p.Arg1678Gln)
|
rs371115266
|
0.00005
|
|
NM_000260.4(MYO7A):c.5169-6C>T
|
rs768594224
|
0.00005
|
|
NM_000260.4(MYO7A):c.874C>T (p.Arg292Trp)
|
rs782505601
|
0.00005
|
|
NM_000264.5(PTCH1):c.2497A>G (p.Met833Val)
|
rs771222407
|
0.00005
|
|
NM_000271.5(NPC1):c.1430C>T (p.Thr477Met)
|
rs761459069
|
0.00005
|
|
NM_000271.5(NPC1):c.956-10G>A
|
rs755660832
|
0.00005
|
|
NM_000276.4(OCRL):c.2245G>T (p.Ala749Ser)
|
rs751678290
|
0.00005
|
|
NM_000282.4(PCCA):c.945G>A (p.Ala315=)
|
rs373115130
|
0.00005
|
|
NM_000283.4(PDE6B):c.2344G>A (p.Val782Met)
|
rs145124626
|
0.00005
|
|
NM_000284.4(PDHA1):c.660C>T (p.Phe220=)
|
rs745607005
|
0.00005
|
|
NM_000291.4(PGK1):c.1188T>A (p.Gly396=)
|
rs782667719
|
0.00005
|
|
NM_000291.4(PGK1):c.1243A>G (p.Ser415Gly)
|
rs929302665
|
0.00005
|
|
NM_000293.3(PHKB):c.1972-7G>A
|
rs765332910
|
0.00005
|
|
NM_000303.3(PMM2):c.738C>G (p.Ser246=)
|
rs373888957
|
0.00005
|
|
NM_000314.8(PTEN):c.*5T>C
|
rs1006891299
|
0.00005
|
|
NM_000317.3(PTS):c.132C>T (p.Asn44=)
|
rs763556416
|
0.00005
|
|
NM_000322.5(PRPH2):c.888C>T (p.Pro296=)
|
rs183714869
|
0.00005
|
|
NM_000328.3(RPGR):c.2152T>C (p.Tyr718His)
|
rs762173989
|
0.00005
|
|
NM_000334.4(SCN4A):c.364C>T (p.Arg122Cys)
|
rs150158100
|
0.00005
|
|
NM_000335.5(SCN5A):c.128G>A (p.Arg43Gln)
|
rs199473047
|
0.00005
|
|
NM_000335.5(SCN5A):c.1735G>A (p.Gly579Arg)
|
rs199473128
|
0.00005
|
|
NM_000335.5(SCN5A):c.2957G>A (p.Arg986Gln)
|
rs41313667
|
0.00005
|
|
NM_000335.5(SCN5A):c.3359C>T (p.Ala1120Val)
|
rs751938579
|
0.00005
|
|
NM_000335.5(SCN5A):c.3664-7T>A
|
rs373156650
|
0.00005
|
|
NM_000335.5(SCN5A):c.4811-5C>T
|
rs765962519
|
0.00005
|
|
NM_000341.4(SLC3A1):c.1137-3T>C
|
rs555017366
|
0.00005
|
|
NM_000343.4(SLC5A1):c.549C>T (p.Leu183=)
|
rs376255565
|
0.00005
|
|
NM_000343.4(SLC5A1):c.624G>A (p.Thr208=)
|
rs144581584
|
0.00005
|
|
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys)
|
rs201117452
|
0.00005
|
|
NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met)
|
rs142732109
|
0.00005
|
|
NM_000350.3(ABCA4):c.4848+13T>C
|
rs374196141
|
0.00005
|
|
NM_000352.6(ABCC8):c.1537G>A (p.Ala513Thr)
|
rs761748692
|
0.00005
|
|
NM_000352.6(ABCC8):c.4482C>T (p.Ala1494=)
|
rs374853931
|
0.00005
|
|
NM_000368.5(TSC1):c.1916G>T (p.Gly639Val)
|
rs372583166
|
0.00005
|
|
NM_000368.5(TSC1):c.1921C>T (p.Pro641Ser)
|
rs374222196
|
0.00005
|
|
NM_000368.5(TSC1):c.2654G>A (p.Arg885Gln)
|
rs200514807
|
0.00005
|
|
NM_000368.5(TSC1):c.2696C>G (p.Thr899Ser)
|
rs76801599
|
0.00005
|
|
NM_000368.5(TSC1):c.3419C>T (p.Pro1140Leu)
|
rs751126355
|
0.00005
|
|
NM_000368.5(TSC1):c.479G>A (p.Arg160His)
|
rs749979841
|
0.00005
|
|
NM_000368.5(TSC1):c.857C>G (p.Pro286Arg)
|
rs375144225
|
0.00005
|
|
NM_000368.5(TSC1):c.946C>T (p.Arg316Trp)
|
rs535868591
|
0.00005
|
|
NM_000381.4(MID1):c.342C>T (p.Ala114=)
|
rs765698306
|
0.00005
|
|
NM_000381.4(MID1):c.99C>T (p.Cys33=)
|
rs727504015
|
0.00005
|
|
NM_000383.4(AIRE):c.156G>A (p.Lys52=)
|
rs144396624
|
0.00005
|
|
NM_000384.3(APOB):c.11018A>G (p.Lys3673Arg)
|
rs374411400
|
0.00005
|
|
NM_000384.3(APOB):c.12581T>C (p.Ile4194Thr)
|
rs570782024
|
0.00005
|
|
NM_000384.3(APOB):c.2657A>G (p.Asn886Ser)
|
rs183398286
|
0.00005
|
|
NM_000384.3(APOB):c.6125T>C (p.Met2042Thr)
|
rs371224295
|
0.00005
|
|
NM_000384.3(APOB):c.7057C>A (p.Gln2353Lys)
|
rs758067709
|
0.00005
|
|
NM_000384.3(APOB):c.7336G>A (p.Val2446Met)
|
rs777259835
|
0.00005
|
|
NM_000384.3(APOB):c.7655A>G (p.Asp2552Gly)
|
rs779100523
|
0.00005
|
|
NM_000384.3(APOB):c.8149G>A (p.Ala2717Thr)
|
rs753292024
|
0.00005
|
|
NM_000384.3(APOB):c.8297C>T (p.Ser2766Phe)
|
rs1225631813
|
0.00005
|
|
NM_000384.3(APOB):c.9448T>C (p.Phe3150Leu)
|
rs185224477
|
0.00005
|
|
NM_000388.4(CASR):c.779A>G (p.Gln260Arg)
|
rs200386687
|
0.00005
|
|
NM_000391.4(TPP1):c.6A>T (p.Gly2=)
|
rs747594496
|
0.00005
|
|
NM_000392.5(ABCC2):c.232C>T (p.Leu78=)
|
rs764390911
|
0.00005
|
|
NM_000392.5(ABCC2):c.2826C>T (p.Asp942=)
|
rs148081784
|
0.00005
|
|
NM_000393.5(COL5A2):c.4471G>A (p.Val1491Ile)
|
rs200703515
|
0.00005
|
|
NM_000393.5(COL5A2):c.870T>C (p.Pro290=)
|
rs139656817
|
0.00005
|
|
NM_000397.4(CYBB):c.948G>T (p.Gly316=)
|
rs139761069
|
0.00005
|
|
NM_000400.4(ERCC2):c.1237+20T>A
|
rs758988777
|
0.00005
|
|
NM_000419.5(ITGA2B):c.1210+8A>G
|
rs771317292
|
0.00005
|
|
NM_000426.4(LAMA2):c.8570A>G (p.Gln2857Arg)
|
rs372956200
|
0.00005
|
|
NM_000435.3(NOTCH3):c.351C>T (p.Cys117=)
|
rs200881673
|
0.00005
|
|
NM_000443.4(ABCB4):c.438C>T (p.Ile146=)
|
rs776179529
|
0.00005
|
|
NM_000447.3(PSEN2):c.208G>A (p.Gly70Arg)
|
rs139972151
|
0.00005
|
|
NM_000454.5(SOD1):c.420C>T (p.Asn140=)
|
rs1804449
|
0.00005
|
|
NM_000455.5(STK11):c.1254C>G (p.Cys418Trp)
|
rs587780715
|
0.00005
|
|
NM_000455.5(STK11):c.1286C>G (p.Ala429Gly)
|
rs757369900
|
0.00005
|
|
NM_000455.5(STK11):c.375-7G>A
|
rs587781176
|
0.00005
|
|
NM_000455.5(STK11):c.465-5C>T
|
rs567202367
|
0.00005
|
|
NM_000455.5(STK11):c.920+6C>T
|
rs730881964
|
0.00005
|
|
NM_000455.5(STK11):c.970C>G (p.Pro324Ala)
|
rs549474196
|
0.00005
|
|
NM_000458.4(HNF1B):c.1239C>T (p.Val413=)
|
rs201113814
|
0.00005
|
|
NM_000458.4(HNF1B):c.1654-4G>A
|
rs193922485
|
0.00005
|
|
NM_000463.3(UGT1A1):c.1458C>T (p.Tyr486=)
|
rs142077822
|
0.00005
|
|
NM_000463.3(UGT1A1):c.477C>T (p.Ile159=)
|
rs199766420
|
0.00005
|
|
NM_000465.4(BARD1):c.-4G>A
|
rs761863671
|
0.00005
|
|
NM_000465.4(BARD1):c.1353A>T (p.Gly451=)
|
rs369564500
|
0.00005
|
|
NM_000465.4(BARD1):c.1568T>C (p.Val523Ala)
|
rs587780017
|
0.00005
|
|
NM_000465.4(BARD1):c.709C>G (p.Gln237Glu)
|
rs587780035
|
0.00005
|
|
NM_000465.4(BARD1):c.841C>T (p.Pro281Ser)
|
rs200059956
|
0.00005
|
|
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile)
|
rs139919229
|
0.00005
|
|
NM_000466.3(PEX1):c.147G>A (p.Val49=)
|
rs202230667
|
0.00005
|
|
NM_000484.4(APP):c.885C>T (p.Ala295=)
|
rs199890425
|
0.00005
|
|
NM_000489.6(ATRX):c.1169G>A (p.Arg390His)
|
rs367986587
|
0.00005
|
|
NM_000489.6(ATRX):c.1478A>G (p.His493Arg)
|
rs947189709
|
0.00005
|
|
NM_000489.6(ATRX):c.1645A>G (p.Ser549Gly)
|
rs148513102
|
0.00005
|
|
NM_000489.6(ATRX):c.2133T>G (p.Pro711=)
|
rs782781621
|
0.00005
|
|
NM_000489.6(ATRX):c.7201-4A>G
|
rs782317502
|
0.00005
|
|
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe)
|
rs1800089
|
0.00005
|
|
NM_000492.4(CFTR):c.2042A>T (p.Glu681Val)
|
rs201295415
|
0.00005
|
|
NM_000492.4(CFTR):c.3874-4A>G
|
rs201381687
|
0.00005
|
|
NM_000503.6(EYA1):c.266C>T (p.Pro89Leu)
|
rs368351103
|
0.00005
|
|
NM_000506.5(F2):c.978G>A (p.Pro326=)
|
rs142949009
|
0.00005
|
|
NM_000518.4(HBB):c.220G>A (p.Asp74Asn)
|
rs33945705
|
0.00005
|
|
NM_000518.5(HBB):c.316-30A>C
|
rs193922558
|
0.00005
|
|
NM_000521.4(HEXB):c.1035A>C (p.Pro345=)
|
rs202227927
|
0.00005
|
|
NM_000521.4(HEXB):c.1572C>T (p.Asp524=)
|
rs770560389
|
0.00005
|
|
NM_000527.5(LDLR):c.2579C>T (p.Ala860Val)
|
rs13306505
|
0.00005
|
|
NM_000527.5(LDLR):c.710G>A (p.Arg237His)
|
rs148171426
|
0.00005
|
|
NM_000527.5(LDLR):c.861C>T (p.Gly287=)
|
rs770191650
|
0.00005
|
|
NM_000528.4(MAN2B1):c.1838G>A (p.Arg613Gln)
|
rs543222535
|
0.00005
|
|
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg)
|
rs202176679
|
0.00005
|
|
NM_000532.5(PCCB):c.1352C>T (p.Thr451Ile)
|
rs145135400
|
0.00005
|
|
NM_000535.7(PMS2):c.-4A>G
|
rs544503598
|
0.00005
|
|
NM_000535.7(PMS2):c.1432A>G (p.Ser478Gly)
|
rs144389038
|
0.00005
|
|
NM_000540.3(RYR1):c.10359C>T (p.Arg3453=)
|
rs376830015
|
0.00005
|
|
NM_000540.3(RYR1):c.14283G>A (p.Pro4761=)
|
rs201157293
|
0.00005
|
|
NM_000540.3(RYR1):c.14602G>A (p.Glu4868Lys)
|
rs187569997
|
0.00005
|
|
NM_000540.3(RYR1):c.1956G>A (p.Ala652=)
|
rs202105428
|
0.00005
|
|
NM_000540.3(RYR1):c.2199G>C (p.Gly733=)
|
rs749285937
|
0.00005
|
|
NM_000540.3(RYR1):c.2835G>A (p.Ala945=)
|
rs576990255
|
0.00005
|
|
NM_000540.3(RYR1):c.2996G>A (p.Arg999His)
|
rs180714609
|
0.00005
|
|
NM_000540.3(RYR1):c.4113G>C (p.Arg1371Ser)
|
rs551509462
|
0.00005
|
|
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met)
|
rs200289457
|
0.00005
|
|
NM_000540.3(RYR1):c.4346C>T (p.Ala1449Val)
|
rs775455157
|
0.00005
|
|
NM_000540.3(RYR1):c.6651C>T (p.Gly2217=)
|
rs371006370
|
0.00005
|
|
NM_000540.3(RYR1):c.7800T>C (p.Arg2600=)
|
rs762682222
|
0.00005
|
|
NM_000540.3(RYR1):c.9348G>A (p.Ser3116=)
|
rs763655831
|
0.00005
|
|
NM_000540.3(RYR1):c.9456C>T (p.Phe3152=)
|
rs369206584
|
0.00005
|
|
NM_000540.3(RYR1):c.9555-4C>T
|
rs1417337927
|
0.00005
|
|
NM_000546.6(TP53):c.*6T>A
|
rs369567704
|
0.00005
|
|
NM_000546.6(TP53):c.782+12C>T
|
rs17881780
|
0.00005
|
|
NM_000548.5(TSC2):c.1340C>T (p.Ala447Val)
|
rs45486591
|
0.00005
|
|
NM_000548.5(TSC2):c.1820C>T (p.Ala607Val)
|
rs397515296
|
0.00005
|
|
NM_000548.5(TSC2):c.2220+4C>G
|
rs781186613
|
0.00005
|
|
NM_000548.5(TSC2):c.2584G>A (p.Ala862Thr)
|
rs759837836
|
0.00005
|
|
NM_000548.5(TSC2):c.3968C>T (p.Ala1323Val)
|
rs397515062
|
0.00005
|
|
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp)
|
rs45517333
|
0.00005
|
|
NM_000548.5(TSC2):c.5186G>A (p.Arg1729His)
|
rs760395277
|
0.00005
|
|
NM_000553.6(WRN):c.2735T>G (p.Ile912Ser)
|
rs11574323
|
0.00005
|
|
NM_000639.3(FASLG):c.278C>T (p.Ala93Val)
|
rs758796005
|
0.00005
|
|
NM_000642.3(AGL):c.1065G>A (p.Thr355=)
|
rs764914308
|
0.00005
|
|
NM_000642.3(AGL):c.261A>G (p.Gln87=)
|
rs370304606
|
0.00005
|
|
NM_000702.4(ATP1A2):c.1461+5G>A
|
rs199906945
|
0.00005
|
|
NM_000709.4(BCKDHA):c.174G>A (p.Ser58=)
|
rs576803251
|
0.00005
|
|
NM_000719.7(CACNA1C):c.1673C>T (p.Thr558Met)
|
rs572234918
|
0.00005
|
|
NM_000719.7(CACNA1C):c.5747A>G (p.Gln1916Arg)
|
rs186867242
|
0.00005
|
|
NM_000742.4(CHRNA2):c.202C>T (p.Arg68Trp)
|
rs376970816
|
0.00005
|
|
NM_000748.3(CHRNB2):c.1236C>T (p.Gly412=)
|
rs767533378
|
0.00005
|
|
NM_000780.4(CYP7A1):c.1292A>G (p.Lys431Arg)
|
rs151122002
|
0.00005
|
|
NM_000787.4(DBH):c.1722+13G>T
|
rs200197329
|
0.00005
|
|
NM_000823.4(GHRHR):c.885G>T (p.Val295=)
|
rs146944568
|
0.00005
|
|
NM_000890.5(KCNJ5):c.739G>A (p.Gly247Arg)
|
rs200170681
|
0.00005
|
|
NM_000891.3(KCNJ2):c.208G>T (p.Ala70Ser)
|
rs375605948
|
0.00005
|
|
NM_001001331.4(ATP2B2):c.2953G>A (p.Ala985Thr)
|
rs146069247
|
0.00005
|
|
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val)
|
rs199571473
|
0.00005
|
|
NM_001005242.3(PKP2):c.1379-2000T>A
|
rs769899368
|
0.00005
|
|
NM_001005242.3(PKP2):c.1379-2072C>T
|
rs758950276
|
0.00005
|
|
NM_001005242.3(PKP2):c.725C>T (p.Thr242Met)
|
rs201580443
|
0.00005
|
|
NM_001005373.4(LRSAM1):c.458G>A (p.Arg153His)
|
rs368689811
|
0.00005
|
|
NM_001005498.4(RHBDF2):c.359T>C (p.Met120Thr)
|
rs367658130
|
0.00005
|
|
NM_001009944.3(PKD1):c.9136C>T (p.Arg3046Cys)
|
rs773857360
|
0.00005
|
|
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn)
|
rs199510538
|
0.00005
|
|
NM_001031710.3(KLHL7):c.1533C>T (p.Val511=)
|
rs886043663
|
0.00005
|
|
NM_001032382.2(PQBP1):c.397C>T (p.Arg133Trp)
|
rs201489630
|
0.00005
|
|
NM_001033855.3(DCLRE1C):c.456C>T (p.Ser152=)
|
rs140176235
|
0.00005
|
|
NM_001034853.2(RPGR):c.865A>G (p.Ile289Val)
|
rs62640587
|
0.00005
|
|
NM_001035.3(RYR2):c.10699C>T (p.Arg3567Cys)
|
rs559154874
|
0.00005
|
|
NM_001035.3(RYR2):c.5454T>C (p.Phe1818=)
|
rs201218861
|
0.00005
|
|
NM_001037.5(SCN1B):c.561C>T (p.Ala187=)
|
rs587781152
|
0.00005
|
|
NM_001037333.3(CYFIP2):c.2281A>G (p.Ile761Val)
|
rs549089526
|
0.00005
|
|
NM_001039213.4(CEACAM16):c.197C>T (p.Ala66Val)
|
rs199924613
|
0.00005
|
|
NM_001040436.3(YARS2):c.477C>T (p.Phe159=)
|
rs774325742
|
0.00005
|
|
NM_001040716.2(PC):c.1233C>T (p.Ser411=)
|
rs747247743
|
0.00005
|
|
NM_001040716.2(PC):c.1368+11G>A
|
rs371731636
|
0.00005
|
|
NM_001040716.2(PC):c.1514-6C>T
|
rs745563711
|
0.00005
|
|
NM_001040716.2(PC):c.751+13G>A
|
rs374607634
|
0.00005
|
|
NM_001042432.2(CLN3):c.1158C>T (p.Gly386=)
|
rs145340637
|
0.00005
|
|
NM_001042492.3(NF1):c.1166A>G (p.His389Arg)
|
rs149739570
|
0.00005
|
|
NM_001042492.3(NF1):c.1588G>A (p.Val530Ile)
|
rs145191978
|
0.00005
|
|
NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser)
|
rs370789267
|
0.00005
|
|
NM_001042492.3(NF1):c.2188A>T (p.Asn730Tyr)
|
rs758893131
|
0.00005
|
|
NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser)
|
rs138227618
|
0.00005
|
|
NM_001048174.2(MUTYH):c.229G>A (p.Asp77Asn)
|
rs587780746
|
0.00005
|
|
NM_001048174.2(MUTYH):c.99G>A (p.Lys33=)
|
rs375084663
|
0.00005
|
|
NM_001065.4(TNFRSF1A):c.434A>G (p.Asn145Ser)
|
rs104895288
|
0.00005
|
|
NM_001077350.3(NPRL3):c.1252G>A (p.Glu418Lys)
|
rs547498080
|
0.00005
|
|
NM_001083116.3(PRF1):c.591C>T (p.Leu197=)
|
rs767273601
|
0.00005
|
|
NM_001083961.2(WDR62):c.1509C>T (p.Asp503=)
|
rs758922011
|
0.00005
|
|
NM_001083961.2(WDR62):c.3558C>T (p.Ser1186=)
|
rs111889921
|
0.00005
|
|
NM_001098671.2(RASGRP2):c.1788G>A (p.Glu596=)
|
rs372060305
|
0.00005
|
|
NM_001099922.3(ALG13):c.2213A>G (p.Glu738Gly)
|
rs374174400
|
0.00005
|
|
NM_001101362.3(KBTBD13):c.290T>C (p.Leu97Pro)
|
rs767384093
|
0.00005
|
|
NM_001103.4(ACTN2):c.127-3C>A
|
rs368775036
|
0.00005
|
|
NM_001105206.3(LAMA4):c.1962G>A (p.Ala654=)
|
rs140246538
|
0.00005
|
|
NM_001110556.2(FLNA):c.4263C>T (p.Thr1421=)
|
rs398123618
|
0.00005
|
|
NM_001110556.2(FLNA):c.5342A>G (p.Asn1781Ser)
|
rs373089783
|
0.00005
|
|
NM_001110556.2(FLNA):c.6394G>A (p.Val2132Met)
|
rs201396725
|
0.00005
|
|
NM_001110556.2(FLNA):c.6770-5C>T
|
rs370913359
|
0.00005
|
|
NM_001110556.2(FLNA):c.7067G>A (p.Ser2356Asn)
|
rs782739586
|
0.00005
|
|
NM_001110792.2(MECP2):c.1292C>T (p.Pro431Leu)
|
rs376324027
|
0.00005
|
|
NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys)
|
rs764262721
|
0.00005
|
|
NM_001123385.2(BCOR):c.3711G>A (p.Val1237=)
|
rs753256966
|
0.00005
|
|
NM_001126108.2(SLC12A3):c.1314C>T (p.Tyr438=)
|
rs776210036
|
0.00005
|
|
NM_001126108.2(SLC12A3):c.2082C>T (p.Asn694=)
|
rs370145822
|
0.00005
|
|
NM_001126121.2(SLC25A19):c.93G>A (p.Ala31=)
|
rs143765189
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.1199-9C>T
|
rs529977616
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.633T>C (p.Ser211=)
|
rs202216404
|
0.00005
|
|
NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=)
|
rs200631256
|
0.00005
|
|
NM_001130438.3(SPTAN1):c.1806+4A>G
|
rs770046688
|
0.00005
|
|
NM_001130438.3(SPTAN1):c.7390G>A (p.Ala2464Thr)
|
rs544843583
|
0.00005
|
|
NM_001130823.3(DNMT1):c.4894G>C (p.Asp1632His)
|
rs147118268
|
0.00005
|
|
NM_001130987.2(DYSF):c.2167G>A (p.Val723Met)
|
rs182450244
|
0.00005
|
|
NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=)
|
rs398123778
|
0.00005
|
|
NM_001130987.2(DYSF):c.405G>A (p.Pro135=)
|
rs973059586
|
0.00005
|
|
NM_001130987.2(DYSF):c.4125C>T (p.Leu1375=)
|
rs773240314
|
0.00005
|
|
NM_001130987.2(DYSF):c.5547-4C>T
|
rs373098428
|
0.00005
|
|
NM_001134363.3(RBM20):c.1093G>A (p.Gly365Arg)
|
rs201047984
|
0.00005
|
|
NM_001134363.3(RBM20):c.1529T>C (p.Phe510Ser)
|
rs372567331
|
0.00005
|
|
NM_001134363.3(RBM20):c.1899G>A (p.Pro633=)
|
rs1446760969
|
0.00005
|
|
NM_001134407.3(GRIN2A):c.2811T>A (p.Asp937Glu)
|
rs570907044
|
0.00005
|
|
NM_001134407.3(GRIN2A):c.3505C>T (p.Arg1169Trp)
|
rs369878342
|
0.00005
|
|
NM_001134407.3(GRIN2A):c.567C>A (p.Thr189=)
|
rs758864728
|
0.00005
|
|
NM_001136472.2(LITAF):c.477G>A (p.Lys159=)
|
rs371453151
|
0.00005
|
|
NM_001142800.2(EYS):c.586A>C (p.Lys196Gln)
|
rs749038401
|
0.00005
|
|
NM_001142800.2(EYS):c.904C>T (p.Leu302Phe)
|
rs202064483
|
0.00005
|
|
NM_001145809.2(MYH14):c.3623C>T (p.Ala1208Val)
|
rs758560911
|
0.00005
|
|
NM_001145809.2(MYH14):c.4220G>A (p.Arg1407His)
|
rs553162373
|
0.00005
|
|
NM_001146079.2(CLDN14):c.273G>A (p.Ser91=)
|
rs577393948
|
0.00005
|
|
NM_001148.6(ANK2):c.1177G>A (p.Ala393Thr)
|
rs147458476
|
0.00005
|
|
NM_001148.6(ANK2):c.5063A>G (p.Gln1688Arg)
|
rs369680021
|
0.00005
|
|
NM_001148.6(ANK2):c.8387C>T (p.Pro2796Leu)
|
rs182956726
|
0.00005
|
|
NM_001148.6(ANK2):c.8918T>G (p.Val2973Gly)
|
rs142302291
|
0.00005
|
|
NM_001159699.2(FHL1):c.408C>T (p.Thr136=)
|
rs755900253
|
0.00005
|
|
NM_001159699.2(FHL1):c.456C>T (p.Ile152=)
|
rs747594885
|
0.00005
|
|
NM_001159699.2(FHL1):c.53C>T (p.Ala18Val)
|
rs146125558
|
0.00005
|
|
NM_001164508.2(NEB):c.10589A>T (p.Gln3530Leu)
|
rs573693040
|
0.00005
|
|
NM_001164508.2(NEB):c.11025G>A (p.Thr3675=)
|
rs199789085
|
0.00005
|
|
NM_001164508.2(NEB):c.1675-4C>G
|
rs369915027
|
0.00005
|
|
NM_001164508.2(NEB):c.17024G>A (p.Arg5675His)
|
rs373850451
|
0.00005
|
|
NM_001164508.2(NEB):c.17900C>T (p.Thr5967Met)
|
rs778982089
|
0.00005
|
|
NM_001164508.2(NEB):c.19315-4A>G
|
rs778306769
|
0.00005
|
|
NM_001164508.2(NEB):c.19899C>T (p.Thr6633=)
|
rs370742146
|
0.00005
|
|
NM_001164508.2(NEB):c.21268C>G (p.Pro7090Ala)
|
rs371704528
|
0.00005
|
|
NM_001164508.2(NEB):c.22131C>G (p.His7377Gln)
|
rs777069125
|
0.00005
|
|
NM_001164508.2(NEB):c.2249C>T (p.Thr750Met)
|
rs757505325
|
0.00005
|
|
NM_001164508.2(NEB):c.23185G>A (p.Ala7729Thr)
|
rs886038449
|
0.00005
|
|
NM_001164508.2(NEB):c.23555C>T (p.Ser7852Leu)
|
rs200454939
|
0.00005
|
|
NM_001164508.2(NEB):c.24044G>A (p.Gly8015Glu)
|
rs772083580
|
0.00005
|
|
NM_001164508.2(NEB):c.252C>T (p.Pro84=)
|
rs201735545
|
0.00005
|
|
NM_001164508.2(NEB):c.2739C>T (p.Ser913=)
|
rs185674525
|
0.00005
|
|
NM_001164508.2(NEB):c.3716G>T (p.Ser1239Ile)
|
rs201541240
|
0.00005
|
|
NM_001164508.2(NEB):c.6488A>G (p.Gln2163Arg)
|
rs200813844
|
0.00005
|
|
NM_001164508.2(NEB):c.6614G>A (p.Arg2205His)
|
rs752349680
|
0.00005
|
|
NM_001164508.2(NEB):c.7185C>T (p.Asn2395=)
|
rs775336786
|
0.00005
|
|
NM_001164508.2(NEB):c.9768C>T (p.Tyr3256=)
|
rs747458739
|
0.00005
|
|
NM_001165963.4(SCN1A):c.1499G>A (p.Arg500Gln)
|
rs200176684
|
0.00005
|
|
NM_001165963.4(SCN1A):c.2057A>C (p.Glu686Ala)
|
rs374767754
|
0.00005
|
|
NM_001165963.4(SCN1A):c.3060C>A (p.His1020Gln)
|
rs150154265
|
0.00005
|
|
NM_001166108.2(PALLD):c.229G>C (p.Glu77Gln)
|
rs376732578
|
0.00005
|
|
NM_001166114.2(PNPLA6):c.3375C>T (p.Gly1125=)
|
rs375987938
|
0.00005
|
|
NM_001170629.2(CHD8):c.4418G>A (p.Arg1473His)
|
rs779590262
|
0.00005
|
|
NM_001177316.2(SLC34A3):c.987C>T (p.Ala329=)
|
rs372523225
|
0.00005
|
|
NM_001182.5(ALDH7A1):c.913+8T>C
|
rs766528289
|
0.00005
|
|
NM_001184.4(ATR):c.3151C>T (p.Arg1051Cys)
|
rs367641692
|
0.00005
|
|
NM_001197104.2(KMT2A):c.6700G>A (p.Gly2234Arg)
|
rs782272214
|
0.00005
|
|
NM_001197104.2(KMT2A):c.9514A>G (p.Thr3172Ala)
|
rs782359762
|
0.00005
|
|
NM_001199107.2(TBC1D24):c.1125C>T (p.His375=)
|
rs749163517
|
0.00005
|
|
NM_001199799.2(ILDR1):c.1160C>G (p.Ser387Cys)
|
rs746732835
|
0.00005
|
|
NM_001205293.3(CACNA1E):c.3491C>T (p.Ala1164Val)
|
rs377232916
|
0.00005
|
|
NM_001206979.2(NR1H4):c.345C>T (p.Gly115=)
|
rs372358310
|
0.00005
|
|
NM_001242896.3(DEPDC5):c.4183G>A (p.Ala1395Thr)
|
rs764462476
|
0.00005
|
|
NM_001244008.2(KIF1A):c.1949+7C>T
|
rs555750413
|
0.00005
|
|
NM_001244008.2(KIF1A):c.3928G>A (p.Asp1310Asn)
|
rs371252476
|
0.00005
|
|
NM_001244008.2(KIF1A):c.4666-5C>T
|
rs532806732
|
0.00005
|
|
NM_001256545.2(MEGF10):c.1080C>T (p.Tyr360=)
|
rs751813170
|
0.00005
|
|
NM_001256545.2(MEGF10):c.3180A>G (p.Pro1060=)
|
rs144450528
|
0.00005
|
|
NM_001256789.3(CACNA1F):c.2777G>A (p.Arg926His)
|
rs782092924
|
0.00005
|
|
NM_001256789.3(CACNA1F):c.5232G>A (p.Arg1744=)
|
rs782598962
|
0.00005
|
|
NM_001256789.3(CACNA1F):c.91G>A (p.Gly31Arg)
|
rs782426237
|
0.00005
|
|
NM_001261826.3(AP3D1):c.1930G>A (p.Val644Ile)
|
rs534880813
|
0.00005
|
|
NM_001267550.2(TTN):c.101213G>A (p.Arg33738His)
|
rs192391568
|
0.00005
|
|
NM_001267550.2(TTN):c.101506T>A (p.Cys33836Ser)
|
rs766439271
|
0.00005
|
|
NM_001267550.2(TTN):c.103215C>T (p.Leu34405=)
|
rs748516187
|
0.00005
|
|
NM_001267550.2(TTN):c.104581C>T (p.Arg34861Cys)
|
rs398124463
|
0.00005
|
|
NM_001267550.2(TTN):c.105424G>A (p.Glu35142Lys)
|
rs765274398
|
0.00005
|
|
NM_001267550.2(TTN):c.106100C>T (p.Thr35367Met)
|
rs377056111
|
0.00005
|
|
NM_001267550.2(TTN):c.107080C>G (p.Leu35694Val)
|
rs769369764
|
0.00005
|
|
NM_001267550.2(TTN):c.11440G>A (p.Glu3814Lys)
|
rs375103237
|
0.00005
|
|
NM_001267550.2(TTN):c.11842C>T (p.Arg3948Cys)
|
rs397517827
|
0.00005
|
|
NM_001267550.2(TTN):c.11855G>A (p.Gly3952Glu)
|
rs779033634
|
0.00005
|
|
NM_001267550.2(TTN):c.133G>C (p.Val45Leu)
|
rs142028110
|
0.00005
|
|
NM_001267550.2(TTN):c.14662C>G (p.Pro4888Ala)
|
rs376799249
|
0.00005
|
|
NM_001267550.2(TTN):c.16550C>T (p.Ser5517Leu)
|
rs769165258
|
0.00005
|
|
NM_001267550.2(TTN):c.18071A>G (p.Asn6024Ser)
|
rs759852969
|
0.00005
|
|
NM_001267550.2(TTN):c.18267T>A (p.Asp6089Glu)
|
rs754848806
|
0.00005
|
|
NM_001267550.2(TTN):c.18778A>C (p.Lys6260Gln)
|
rs375652574
|
0.00005
|
|
NM_001267550.2(TTN):c.1895G>A (p.Gly632Asp)
|
rs150231219
|
0.00005
|
|
NM_001267550.2(TTN):c.208G>A (p.Val70Met)
|
rs772248060
|
0.00005
|
|
NM_001267550.2(TTN):c.22922C>T (p.Ser7641Leu)
|
rs369508943
|
0.00005
|
|
NM_001267550.2(TTN):c.23616C>T (p.Asn7872=)
|
rs181206334
|
0.00005
|
|
NM_001267550.2(TTN):c.24114C>T (p.Asn8038=)
|
rs199576800
|
0.00005
|
|
NM_001267550.2(TTN):c.2506G>A (p.Gly836Ser)
|
rs751157908
|
0.00005
|
|
NM_001267550.2(TTN):c.26619C>A (p.Asp8873Glu)
|
rs772596633
|
0.00005
|
|
NM_001267550.2(TTN):c.2734C>T (p.Arg912Cys)
|
rs371156190
|
0.00005
|
|
NM_001267550.2(TTN):c.28042C>G (p.Gln9348Glu)
|
rs794727987
|
0.00005
|
|
NM_001267550.2(TTN):c.28849G>A (p.Glu9617Lys)
|
rs144025230
|
0.00005
|
|
NM_001267550.2(TTN):c.28971G>A (p.Ser9657=)
|
rs370903846
|
0.00005
|
|
NM_001267550.2(TTN):c.30230C>T (p.Pro10077Leu)
|
rs374075627
|
0.00005
|
|
NM_001267550.2(TTN):c.3030C>T (p.Ser1010=)
|
rs374346637
|
0.00005
|
|
NM_001267550.2(TTN):c.3035G>A (p.Arg1012Gln)
|
rs368885310
|
0.00005
|
|
NM_001267550.2(TTN):c.39230T>C (p.Val13077Ala)
|
rs398124449
|
0.00005
|
|
NM_001267550.2(TTN):c.39250G>T (p.Val13084Leu)
|
rs72650062
|
0.00005
|
|
NM_001267550.2(TTN):c.39941C>A (p.Thr13314Asn)
|
rs543338451
|
0.00005
|
|
NM_001267550.2(TTN):c.4153G>A (p.Ala1385Thr)
|
rs140760859
|
0.00005
|
|
NM_001267550.2(TTN):c.43161G>A (p.Glu14387=)
|
rs765214404
|
0.00005
|
|
NM_001267550.2(TTN):c.44542G>A (p.Val14848Met)
|
rs759373140
|
0.00005
|
|
NM_001267550.2(TTN):c.44900G>A (p.Arg14967Gln)
|
rs752671402
|
0.00005
|
|
NM_001267550.2(TTN):c.47196G>C (p.Val15732=)
|
rs369979598
|
0.00005
|
|
NM_001267550.2(TTN):c.48670T>C (p.Trp16224Arg)
|
rs148549746
|
0.00005
|
|
NM_001267550.2(TTN):c.49649-11T>C
|
rs727504474
|
0.00005
|
|
NM_001267550.2(TTN):c.50308C>T (p.Leu16770=)
|
rs370782852
|
0.00005
|
|
NM_001267550.2(TTN):c.50385T>C (p.Gly16795=)
|
rs374672630
|
0.00005
|
|
NM_001267550.2(TTN):c.5296G>A (p.Val1766Ile)
|
rs149494502
|
0.00005
|
|
NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile)
|
rs190574498
|
0.00005
|
|
NM_001267550.2(TTN):c.54381+6C>G
|
rs368265962
|
0.00005
|
|
NM_001267550.2(TTN):c.54811+10C>T
|
rs796651993
|
0.00005
|
|
NM_001267550.2(TTN):c.56351G>A (p.Arg18784His)
|
rs771284532
|
0.00005
|
|
NM_001267550.2(TTN):c.56535G>A (p.Thr18845=)
|
rs529480368
|
0.00005
|
|
NM_001267550.2(TTN):c.56871C>T (p.Ser18957=)
|
rs370619063
|
0.00005
|
|
NM_001267550.2(TTN):c.57682C>T (p.Arg19228Cys)
|
rs757820671
|
0.00005
|
|
NM_001267550.2(TTN):c.58017G>C (p.Leu19339Phe)
|
rs368025965
|
0.00005
|
|
NM_001267550.2(TTN):c.58841T>C (p.Ile19614Thr)
|
rs199933004
|
0.00005
|
|
NM_001267550.2(TTN):c.59074A>G (p.Thr19692Ala)
|
rs771977738
|
0.00005
|
|
NM_001267550.2(TTN):c.59657T>G (p.Val19886Gly)
|
rs755949982
|
0.00005
|
|
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr)
|
rs727503588
|
0.00005
|
|
NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln)
|
rs373062007
|
0.00005
|
|
NM_001267550.2(TTN):c.61289G>A (p.Cys20430Tyr)
|
rs527704660
|
0.00005
|
|
NM_001267550.2(TTN):c.61992C>G (p.Asn20664Lys)
|
rs376455983
|
0.00005
|
|
NM_001267550.2(TTN):c.63464G>A (p.Arg21155His)
|
rs373169150
|
0.00005
|
|
NM_001267550.2(TTN):c.64903C>T (p.Arg21635Cys)
|
rs201614524
|
0.00005
|
|
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn)
|
rs727503577
|
0.00005
|
|
NM_001267550.2(TTN):c.67322A>G (p.Glu22441Gly)
|
rs201223583
|
0.00005
|
|
NM_001267550.2(TTN):c.67637-4A>G
|
rs376053678
|
0.00005
|
|
NM_001267550.2(TTN):c.70102A>G (p.Ile23368Val)
|
rs367914610
|
0.00005
|
|
NM_001267550.2(TTN):c.73914G>A (p.Glu24638=)
|
rs376382707
|
0.00005
|
|
NM_001267550.2(TTN):c.74305A>G (p.Asn24769Asp)
|
rs372787601
|
0.00005
|
|
NM_001267550.2(TTN):c.77907C>T (p.Asn25969=)
|
rs375903820
|
0.00005
|
|
NM_001267550.2(TTN):c.7817C>T (p.Ala2606Val)
|
rs370857722
|
0.00005
|
|
NM_001267550.2(TTN):c.81737T>C (p.Ile27246Thr)
|
rs367603381
|
0.00005
|
|
NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr)
|
rs376037252
|
0.00005
|
|
NM_001267550.2(TTN):c.84964C>T (p.Arg28322Cys)
|
rs774978209
|
0.00005
|
|
NM_001267550.2(TTN):c.86983G>A (p.Ala28995Thr)
|
rs774191975
|
0.00005
|
|
NM_001267550.2(TTN):c.8788G>A (p.Val2930Ile)
|
rs56373393
|
0.00005
|
|
NM_001267550.2(TTN):c.89760A>C (p.Glu29920Asp)
|
rs747181293
|
0.00005
|
|
NM_001267550.2(TTN):c.899C>A (p.Thr300Asn)
|
rs376737897
|
0.00005
|
|
NM_001267550.2(TTN):c.92451G>T (p.Glu30817Asp)
|
rs397517755
|
0.00005
|
|
NM_001267550.2(TTN):c.92612T>C (p.Val30871Ala)
|
rs756610221
|
0.00005
|
|
NM_001267550.2(TTN):c.93917T>C (p.Ile31306Thr)
|
rs555405542
|
0.00005
|
|
NM_001267550.2(TTN):c.94700A>G (p.Asn31567Ser)
|
rs886042885
|
0.00005
|
|
NM_001267550.2(TTN):c.95130C>A (p.Gly31710=)
|
rs727504857
|
0.00005
|
|
NM_001267550.2(TTN):c.95541T>G (p.Arg31847=)
|
rs749477738
|
0.00005
|
|
NM_001267550.2(TTN):c.97156G>A (p.Gly32386Arg)
|
rs758534800
|
0.00005
|
|
NM_001267550.2(TTN):c.97472T>C (p.Ile32491Thr)
|
rs781572378
|
0.00005
|
|
NM_001267550.2(TTN):c.9851A>G (p.Lys3284Arg)
|
rs147903846
|
0.00005
|
|
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val)
|
rs727503538
|
0.00005
|
|
NM_001267550.2(TTN):c.99434G>A (p.Arg33145Gln)
|
rs371531675
|
0.00005
|
|
NM_001267550.2(TTN):c.99922G>A (p.Ala33308Thr)
|
rs201226974
|
0.00005
|
|
NM_001271.4(CHD2):c.4482C>T (p.Asn1494=)
|
rs565686460
|
0.00005
|
|
NM_001271938.2(MEGF8):c.8492G>A (p.Arg2831Gln)
|
rs766621187
|
0.00005
|
|
NM_001273.5(CHD4):c.2025-3T>C
|
rs370071477
|
0.00005
|
|
NM_001277115.2(DNAH11):c.126G>A (p.Glu42=)
|
rs748250611
|
0.00005
|
|
NM_001277115.2(DNAH11):c.4964A>G (p.Lys1655Arg)
|
rs371049362
|
0.00005
|
|
NM_001277115.2(DNAH11):c.6607T>C (p.Leu2203=)
|
rs202012891
|
0.00005
|
|
NM_001277115.2(DNAH11):c.7800T>C (p.Asp2600=)
|
rs774129338
|
0.00005
|
|
NM_001278116.2(L1CAM):c.2872+9G>A
|
rs398123363
|
0.00005
|
|
NM_001283009.2(RTEL1):c.2308G>A (p.Gly770Arg)
|
rs537754916
|
0.00005
|
|
NM_001288705.3(CSF1R):c.1885G>T (p.Ala629Ser)
|
rs17854478
|
0.00005
|
|
NM_001291303.3(FAT4):c.9163C>A (p.Gln3055Lys)
|
rs199778782
|
0.00005
|
|
NM_001291415.2(KDM6A):c.2018G>A (p.Arg673His)
|
rs369284316
|
0.00005
|
|
NM_001291867.2(NHS):c.152C>T (p.Ala51Val)
|
rs727504039
|
0.00005
|
|
NM_001292063.2(OTOG):c.5626C>T (p.Leu1876=)
|
rs748088599
|
0.00005
|
|
NM_001292063.2(OTOG):c.937C>A (p.Pro313Thr)
|
rs777809121
|
0.00005
|
|
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser)
|
rs748459878
|
0.00005
|
|
NM_001323289.2(CDKL5):c.2469C>T (p.Pro823=)
|
rs369377144
|
0.00005
|
|
NM_001330078.2(NRXN1):c.270G>T (p.Gln90His)
|
rs199960045
|
0.00005
|
|
NM_001330078.2(NRXN1):c.3219C>T (p.Asn1073=)
|
rs563089155
|
0.00005
|
|
NM_001330260.2(SCN8A):c.1779G>C (p.Glu593Asp)
|
rs760717246
|
0.00005
|
|
NM_001347721.2(DYRK1A):c.300+3A>G
|
rs1241074832
|
0.00005
|
|
NM_001349338.3(FOXP1):c.107G>A (p.Arg36Gln)
|
rs200643313
|
0.00005
|
|
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=)
|
rs759178651
|
0.00005
|
|
NM_001358530.2(MOCS1):c.162G>A (p.Ala54=)
|
rs200316862
|
0.00005
|
|
NM_001360.3(DHCR7):c.288C>T (p.Ala96=)
|
rs745595242
|
0.00005
|
|
NM_001360.3(DHCR7):c.69C>T (p.Thr23=)
|
rs199798127
|
0.00005
|
|
NM_001364171.2(ODAD1):c.377C>T (p.Thr126Met)
|
rs137875815
|
0.00005
|
|
NM_001365276.2(TNXB):c.4866C>T (p.Pro1622=)
|
rs571254395
|
0.00005
|
|
NM_001365276.2(TNXB):c.9488C>G (p.Ala3163Gly)
|
rs561810058
|
0.00005
|
|
NM_001365536.1(SCN9A):c.1975-8T>A
|
rs752961542
|
0.00005
|
|
NM_001365999.1(SZT2):c.2887A>G (p.Lys963Glu)
|
rs753130543
|
0.00005
|
|
NM_001365999.1(SZT2):c.4503G>A (p.Val1501=)
|
rs367690658
|
0.00005
|
|
NM_001367624.2(ZNF469):c.4745G>A (p.Arg1582His)
|
rs758312819
|
0.00005
|
|
NM_001367624.2(ZNF469):c.5332C>A (p.Pro1778Thr)
|
rs528985816
|
0.00005
|
|
NM_001367624.2(ZNF469):c.745G>A (p.Gly249Arg)
|
rs1163683032
|
0.00005
|
|
NM_001367624.2(ZNF469):c.98C>T (p.Pro33Leu)
|
rs752770883
|
0.00005
|
|
NM_001367721.1(CASK):c.1090A>G (p.Ser364Gly)
|
rs759161435
|
0.00005
|
|
NM_001368067.1(LDB3):c.346G>A (p.Ala116Thr)
|
rs200458194
|
0.00005
|
|
NM_001369.3(DNAH5):c.10472C>T (p.Thr3491Met)
|
rs760010021
|
0.00005
|
|
NM_001369.3(DNAH5):c.12473G>A (p.Arg4158Gln)
|
rs376927687
|
0.00005
|
|
NM_001369.3(DNAH5):c.13072C>T (p.Arg4358Trp)
|
rs753960777
|
0.00005
|
|
NM_001369.3(DNAH5):c.13672A>G (p.Lys4558Glu)
|
rs752010216
|
0.00005
|
|
NM_001369.3(DNAH5):c.3302T>C (p.Val1101Ala)
|
rs376453450
|
0.00005
|
|
NM_001369.3(DNAH5):c.3517A>C (p.Ile1173Leu)
|
rs375686889
|
0.00005
|
|
NM_001369.3(DNAH5):c.3655C>T (p.Arg1219Cys)
|
rs745321705
|
0.00005
|
|
NM_001369.3(DNAH5):c.4338C>G (p.Leu1446=)
|
rs377432140
|
0.00005
|
|
NM_001369.3(DNAH5):c.6053T>C (p.Ile2018Thr)
|
rs117989731
|
0.00005
|
|
NM_001369.3(DNAH5):c.8018A>G (p.Asn2673Ser)
|
rs200591493
|
0.00005
|
|
NM_001369369.1(FOXN1):c.159C>T (p.Ser53=)
|
rs368024968
|
0.00005
|
|
NM_001370658.1(BTD):c.48C>T (p.Tyr16=)
|
rs201823743
|
0.00005
|
|
NM_001371623.1(TCOF1):c.1124C>T (p.Ser375Leu)
|
rs756584594
|
0.00005
|
|
NM_001371904.1(APOA5):c.875C>T (p.Thr292Ile)
|
rs34832733
|
0.00005
|
|
NM_001371928.1(AHDC1):c.4045A>G (p.Met1349Val)
|
rs369141317
|
0.00005
|
|
NM_001372051.1(CASP8):c.1308C>T (p.Gly436=)
|
rs777463099
|
0.00005
|
|
NM_001374353.1(GLI2):c.4241C>T (p.Pro1414Leu)
|
rs749402521
|
0.00005
|
|
NM_001374385.1(ATP8B1):c.1620T>C (p.Asp540=)
|
rs201514636
|
0.00005
|
|
NM_001374385.1(ATP8B1):c.2521A>C (p.Arg841=)
|
rs149156534
|
0.00005
|
|
NM_001374385.1(ATP8B1):c.276T>C (p.Tyr92=)
|
rs749127600
|
0.00005
|
|
NM_001374385.1(ATP8B1):c.297A>T (p.Thr99=)
|
rs575921074
|
0.00005
|
|
NM_001374736.1(DST):c.2860-4G>C
|
rs370134977
|
0.00005
|
|
NM_001374828.1(ARID1B):c.407C>T (p.Ser136Leu)
|
rs1484818039
|
0.00005
|
|
NM_001376.5(DYNC1H1):c.12453A>T (p.Pro4151=)
|
rs200375220
|
0.00005
|
|
NM_001376.5(DYNC1H1):c.2328G>A (p.Pro776=)
|
rs144921184
|
0.00005
|
|
NM_001376.5(DYNC1H1):c.2737G>A (p.Val913Ile)
|
rs372740994
|
0.00005
|
|
NM_001378120.1(MBD5):c.692T>C (p.Ile231Thr)
|
rs199530726
|
0.00005
|
|
NM_001378414.1(HDAC4):c.1434C>T (p.Asn478=)
|
rs754530774
|
0.00005
|
|
NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr)
|
rs767787371
|
0.00005
|
|
NM_001378452.1(ITPR1):c.5441A>G (p.Asn1814Ser)
|
rs200927261
|
0.00005
|
|
NM_001378454.1(ALMS1):c.11548-3T>C
|
rs555547573
|
0.00005
|
|
NM_001378454.1(ALMS1):c.11792A>G (p.Glu3931Gly)
|
rs776808559
|
0.00005
|
|
NM_001378454.1(ALMS1):c.4987A>G (p.Thr1663Ala)
|
rs770424780
|
0.00005
|
|
NM_001378454.1(ALMS1):c.558C>T (p.Asp186=)
|
rs370228166
|
0.00005
|
|
NM_001378454.1(ALMS1):c.8918C>T (p.Ala2973Val)
|
rs202110907
|
0.00005
|
|
NM_001378609.3(OTOGL):c.3184A>T (p.Ile1062Phe)
|
rs188793584
|
0.00005
|
|
NM_001378778.1(MPDZ):c.1197A>G (p.Lys399=)
|
rs767284244
|
0.00005
|
|
NM_001378969.1(KCND3):c.1798G>A (p.Gly600Arg)
|
rs149344567
|
0.00005
|
|
NM_001384474.1(LOXHD1):c.4068G>A (p.Arg1356=)
|
rs539688337
|
0.00005
|
|
NM_001384910.1(GUCA1A):c.10G>A (p.Val4Met)
|
rs200110820
|
0.00005
|
|
NM_001395413.1(POR):c.888C>T (p.Thr296=)
|
rs180683888
|
0.00005
|
|
NM_001395413.1(POR):c.990C>T (p.Leu330=)
|
rs376830846
|
0.00005
|
|
NM_001429.4(EP300):c.4624A>G (p.Lys1542Glu)
|
rs374162524
|
0.00005
|
|
NM_001457.4(FLNB):c.2096G>A (p.Arg699Gln)
|
rs752842243
|
0.00005
|
|
NM_001457.4(FLNB):c.2965G>A (p.Val989Met)
|
rs76471260
|
0.00005
|
|
NM_001457.4(FLNB):c.3655C>T (p.Arg1219Trp)
|
rs763607287
|
0.00005
|
|
NM_001458.5(FLNC):c.2041G>A (p.Gly681Ser)
|
rs199705417
|
0.00005
|
|
NM_001458.5(FLNC):c.4092G>C (p.Leu1364Phe)
|
rs768635501
|
0.00005
|
|
NM_001458.5(FLNC):c.6865G>A (p.Ala2289Thr)
|
rs766740877
|
0.00005
|
|
NM_001701.4(BAAT):c.762G>A (p.Thr254=)
|
rs760488689
|
0.00005
|
|
NM_001701.4(BAAT):c.797T>C (p.Ile266Thr)
|
rs539433580
|
0.00005
|
|
NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met)
|
rs138498898
|
0.00005
|
|
NM_001844.5(COL2A1):c.4149G>A (p.Thr1383=)
|
rs750227063
|
0.00005
|
|
NM_001844.5(COL2A1):c.4375C>T (p.Arg1459Cys)
|
rs148838496
|
0.00005
|
|
NM_001844.5(COL2A1):c.4448C>T (p.Pro1483Leu)
|
rs376442872
|
0.00005
|
|
NM_001845.6(COL4A1):c.4045C>T (p.Pro1349Ser)
|
rs761077330
|
0.00005
|
|
NM_001848.3(COL6A1):c.2709C>T (p.Ala903=)
|
rs139018148
|
0.00005
|
|
NM_001848.3(COL6A1):c.994G>A (p.Gly332Ser)
|
rs11701912
|
0.00005
|
|
NM_001849.4(COL6A2):c.116-3C>T
|
rs767597831
|
0.00005
|
|
NM_001849.4(COL6A2):c.1869C>T (p.Ser623=)
|
rs760704425
|
0.00005
|
|
NM_001849.4(COL6A2):c.2205C>T (p.His735=)
|
rs755147431
|
0.00005
|
|
NM_001849.4(COL6A2):c.2565C>T (p.Phe855=)
|
rs774805224
|
0.00005
|
|
NM_001849.4(COL6A2):c.648C>T (p.Tyr216=)
|
rs150004111
|
0.00005
|
|
NM_001851.6(COL9A1):c.1202C>A (p.Thr401Lys)
|
rs376664058
|
0.00005
|
|
NM_001851.6(COL9A1):c.166+5G>A
|
rs544432669
|
0.00005
|
|
NM_001852.4(COL9A2):c.682C>T (p.Pro228Ser)
|
rs370064150
|
0.00005
|
|
NM_001875.5(CPS1):c.1632G>A (p.Thr544=)
|
rs755530984
|
0.00005
|
|
NM_001875.5(CPS1):c.3121C>T (p.Leu1041=)
|
rs146064786
|
0.00005
|
|
NM_001876.4(CPT1A):c.434G>A (p.Arg145His)
|
rs373015421
|
0.00005
|
|
NM_001909.5(CTSD):c.410C>T (p.Ser137Leu)
|
rs777645484
|
0.00005
|
|
NM_001918.5(DBT):c.291C>T (p.Ser97=)
|
rs201318480
|
0.00005
|
|
NM_001931.5(DLAT):c.165C>G (p.Val55=)
|
rs199520186
|
0.00005
|
|
NM_001943.5(DSG2):c.2780C>T (p.Pro927Leu)
|
rs146402368
|
0.00005
|
|
NM_001943.5(DSG2):c.862G>A (p.Val288Ile)
|
rs780374242
|
0.00005
|
|
NM_001966.4(EHHADH):c.855C>T (p.Ser285=)
|
rs752275123
|
0.00005
|
|
NM_001999.4(FBN2):c.3690A>G (p.Gly1230=)
|
rs774807410
|
0.00005
|
|
NM_001999.4(FBN2):c.4328A>T (p.Asp1443Val)
|
rs751400994
|
0.00005
|
|
NM_001999.4(FBN2):c.5494C>T (p.Arg1832Cys)
|
rs778519094
|
0.00005
|
|
NM_002055.5(GFAP):c.1003G>A (p.Gly335Arg)
|
rs149353780
|
0.00005
|
|
NM_002148.4(HOXD10):c.266G>A (p.Arg89Gln)
|
rs374700658
|
0.00005
|
|
NM_002180.3(IGHMBP2):c.1632+4C>T
|
rs775832239
|
0.00005
|
|
NM_002180.3(IGHMBP2):c.2619G>A (p.Pro873=)
|
rs373001247
|
0.00005
|
|
NM_002206.3(ITGA7):c.3263G>A (p.Arg1088Gln)
|
rs754655315
|
0.00005
|
|
NM_002230.4(JUP):c.1039G>A (p.Ala347Thr)
|
rs782301706
|
0.00005
|
|
NM_002230.4(JUP):c.412G>A (p.Glu138Lys)
|
rs150245906
|
0.00005
|
|
NM_002230.4(JUP):c.460G>A (p.Glu154Lys)
|
rs782765314
|
0.00005
|
|
NM_002230.4(JUP):c.560C>T (p.Ala187Val)
|
rs782370709
|
0.00005
|
|
NM_002292.4(LAMB2):c.3324C>T (p.Asn1108=)
|
rs757491995
|
0.00005
|
|
NM_002292.4(LAMB2):c.386-15C>T
|
rs117575041
|
0.00005
|
|
NM_002294.3(LAMP2):c.32G>T (p.Gly11Val)
|
rs3180515
|
0.00005
|
|
NM_002334.4(LRP4):c.4898C>T (p.Ser1633Leu)
|
rs146362081
|
0.00005
|
|
NM_002335.4(LRP5):c.3697G>A (p.Asp1233Asn)
|
rs146388120
|
0.00005
|
|
NM_002435.3(MPI):c.132G>A (p.Lys44=)
|
rs778577329
|
0.00005
|
|
NM_002439.5(MSH3):c.2125T>C (p.Phe709Leu)
|
rs1805354
|
0.00005
|
|
NM_002454.3(MTRR):c.346C>A (p.Gln116Lys)
|
rs202110383
|
0.00005
|
|
NM_002471.4(MYH6):c.1582-7C>T
|
rs374941865
|
0.00005
|
|
NM_002471.4(MYH6):c.5077G>A (p.Val1693Met)
|
rs373457153
|
0.00005
|
|
NM_002471.4(MYH6):c.5642A>G (p.Lys1881Arg)
|
rs750886219
|
0.00005
|
|
NM_002473.6(MYH9):c.3213C>T (p.Ile1071=)
|
rs552133535
|
0.00005
|
|
NM_002474.3(MYH11):c.4345A>C (p.Lys1449Gln)
|
rs775809843
|
0.00005
|
|
NM_002474.3(MYH11):c.5176G>A (p.Ala1726Thr)
|
rs376154041
|
0.00005
|
|
NM_002474.3(MYH11):c.5869G>C (p.Glu1957Gln)
|
rs768140376
|
0.00005
|
|
NM_002474.3(MYH11):c.708C>T (p.Asn236=)
|
rs768328532
|
0.00005
|
|
NM_002485.5(NBN):c.1454C>T (p.Thr485Met)
|
rs200891292
|
0.00005
|
|
NM_002528.7(NTHL1):c.170G>A (p.Arg57His)
|
rs774831009
|
0.00005
|
|
NM_002529.4(NTRK1):c.1939G>T (p.Val647Leu)
|
rs142870382
|
0.00005
|
|
NM_002529.4(NTRK1):c.357C>T (p.Arg119=)
|
rs149960336
|
0.00005
|
|
NM_002529.4(NTRK1):c.375C>T (p.Asn125=)
|
rs757803799
|
0.00005
|
|
NM_002547.3(OPHN1):c.1722G>A (p.Pro574=)
|
rs752918613
|
0.00005
|
|
NM_002547.3(OPHN1):c.702+8T>C
|
rs369382527
|
0.00005
|
|
NM_002615.7(SERPINF1):c.427G>A (p.Val143Ile)
|
rs548418598
|
0.00005
|
|
NM_002617.4(PEX10):c.711C>T (p.Tyr237=)
|
rs761005209
|
0.00005
|
|
NM_002637.4(PHKA1):c.3364G>C (p.Glu1122Gln)
|
rs202007590
|
0.00005
|
|
NM_002637.4(PHKA1):c.3570C>T (p.Asp1190=)
|
rs1033726905
|
0.00005
|
|
NM_002691.4(POLD1):c.1322C>T (p.Thr441Met)
|
rs376711125
|
0.00005
|
|
NM_002693.3(POLG):c.125G>A (p.Arg42Gln)
|
rs74382477
|
0.00005
|
|
NM_002693.3(POLG):c.1311C>T (p.Val437=)
|
rs62640035
|
0.00005
|
|
NM_002693.3(POLG):c.1850G>A (p.Arg617His)
|
rs779961986
|
0.00005
|
|
NM_002863.5(PYGL):c.1884A>G (p.Ala628=)
|
rs374560108
|
0.00005
|
|
NM_002878.4(RAD51D):c.346-10C>T
|
rs779972784
|
0.00005
|
|
NM_002906.4(RDX):c.1282A>G (p.Ile428Val)
|
rs572843421
|
0.00005
|
|
NM_002907.4(RECQL):c.962G>A (p.Cys321Tyr)
|
rs150889040
|
0.00005
|
|
NM_003036.4(SKI):c.1212-8C>T
|
rs370921440
|
0.00005
|
|
NM_003047.5(SLC9A1):c.1695C>T (p.Gly565=)
|
rs144261466
|
0.00005
|
|
NM_003070.5(SMARCA2):c.482C>T (p.Pro161Leu)
|
rs149394378
|
0.00005
|
|
NM_003072.5(SMARCA4):c.3791C>T (p.Thr1264Met)
|
rs377119410
|
0.00005
|
|
NM_003151.4(STAT4):c.921G>C (p.Leu307Phe)
|
rs548245892
|
0.00005
|
|
NM_003172.4(SURF1):c.507C>T (p.Thr169=)
|
rs782614599
|
0.00005
|
|
NM_003265.3(TLR3):c.1585C>T (p.Leu529Phe)
|
rs201222071
|
0.00005
|
|
NM_003467.3(CXCR4):c.219G>A (p.Thr73=)
|
rs909200339
|
0.00005
|
|
NM_003482.4(KMT2D):c.10472G>A (p.Arg3491His)
|
rs757247893
|
0.00005
|
|
NM_003482.4(KMT2D):c.14474G>A (p.Arg4825Gln)
|
rs758494772
|
0.00005
|
|
NM_003482.4(KMT2D):c.5821A>G (p.Met1941Val)
|
rs372271746
|
0.00005
|
|
NM_003482.4(KMT2D):c.6345C>T (p.Ser2115=)
|
rs368856357
|
0.00005
|
|
NM_003491.4(NAA10):c.201G>C (p.Val67=)
|
rs375971315
|
0.00005
|
|
NM_003640.5(ELP1):c.2799G>A (p.Arg933=)
|
rs367974002
|
0.00005
|
|
NM_003664.5(AP3B1):c.1704C>T (p.Tyr568=)
|
rs376978572
|
0.00005
|
|
NM_003673.4(TCAP):c.113G>T (p.Cys38Phe)
|
rs375310569
|
0.00005
|
|
NM_003722.5(TP63):c.992+9C>T
|
rs369838833
|
0.00005
|
|
NM_003737.4(DCHS1):c.5853C>T (p.Arg1951=)
|
rs370161556
|
0.00005
|
|
NM_003737.4(DCHS1):c.8624G>A (p.Arg2875Gln)
|
rs772552501
|
0.00005
|
|
NM_003835.4(RGS9):c.69C>T (p.Leu23=)
|
rs373346845
|
0.00005
|
|
NM_003839.4(TNFRSF11A):c.1416C>T (p.Cys472=)
|
rs771249524
|
0.00005
|
|
NM_003859.3(DPM1):c.456A>G (p.Gly152=)
|
rs370598866
|
0.00005
|
|
NM_003863.4(DPM2):c.197-5C>T
|
rs886063482
|
0.00005
|
|
NM_003978.5(PSTPIP1):c.411C>A (p.Ala137=)
|
rs368114895
|
0.00005
|
|
NM_004006.3(DMD):c.10442A>G (p.Gln3481Arg)
|
rs368594777
|
0.00005
|
|
NM_004006.3(DMD):c.145C>T (p.Arg49Cys)
|
rs147548697
|
0.00005
|
|
NM_004006.3(DMD):c.1687C>T (p.Arg563Cys)
|
rs145739725
|
0.00005
|
|
NM_004006.3(DMD):c.2245A>G (p.Ile749Val)
|
rs771803281
|
0.00005
|
|
NM_004006.3(DMD):c.3046C>T (p.Arg1016Trp)
|
rs199808421
|
0.00005
|
|
NM_004006.3(DMD):c.3375G>A (p.Ser1125=)
|
rs191164314
|
0.00005
|
|
NM_004006.3(DMD):c.3959C>G (p.Pro1320Arg)
|
rs766977775
|
0.00005
|
|
NM_004006.3(DMD):c.434G>A (p.Arg145Gln)
|
rs398123952
|
0.00005
|
|
NM_004006.3(DMD):c.6452G>A (p.Gly2151Asp)
|
rs727503815
|
0.00005
|
|
NM_004006.3(DMD):c.7914T>C (p.Asp2638=)
|
rs754997935
|
0.00005
|
|
NM_004006.3(DMD):c.8322G>A (p.Leu2774=)
|
rs72466575
|
0.00005
|
|
NM_004006.3(DMD):c.8886C>T (p.Pro2962=)
|
rs371648038
|
0.00005
|
|
NM_004035.7(ACOX1):c.405T>C (p.Thr135=)
|
rs142474717
|
0.00005
|
|
NM_004035.7(ACOX1):c.912C>T (p.Ser304=)
|
rs144826451
|
0.00005
|
|
NM_004082.5(DCTN1):c.60G>A (p.Ala20=)
|
rs150204862
|
0.00005
|
|
NM_004100.5(EYA4):c.1107+13A>C
|
rs775989680
|
0.00005
|
|
NM_004183.4(BEST1):c.1064G>A (p.Arg355His)
|
rs368356148
|
0.00005
|
|
NM_004187.5(KDM5C):c.4631C>T (p.Thr1544Ile)
|
rs782529520
|
0.00005
|
|
NM_004208.4(AIFM1):c.893G>A (p.Arg298Gln)
|
rs766786579
|
0.00005
|
|
NM_004281.4(BAG3):c.133C>T (p.Arg45Cys)
|
rs747820097
|
0.00005
|
|
NM_004281.4(BAG3):c.872C>T (p.Ser291Leu)
|
rs368866313
|
0.00005
|
|
NM_004304.5(ALK):c.3338G>A (p.Arg1113Gln)
|
rs199987354
|
0.00005
|
|
NM_004304.5(ALK):c.719A>G (p.Tyr240Cys)
|
rs550608288
|
0.00005
|
|
NM_004360.5(CDH1):c.1019C>T (p.Thr340Met)
|
rs61747631
|
0.00005
|
|
NM_004360.5(CDH1):c.1988A>G (p.Tyr663Cys)
|
rs372182377
|
0.00005
|
|
NM_004360.5(CDH1):c.699C>T (p.His233=)
|
rs115494727
|
0.00005
|
|
NM_004369.4(COL6A3):c.2972C>T (p.Ala991Val)
|
rs202185764
|
0.00005
|
|
NM_004369.4(COL6A3):c.2994G>A (p.Ser998=)
|
rs768233315
|
0.00005
|
|
NM_004369.4(COL6A3):c.3555C>T (p.Ala1185=)
|
rs373719229
|
0.00005
|
|
NM_004369.4(COL6A3):c.3901C>T (p.Arg1301Trp)
|
rs150430813
|
0.00005
|
|
NM_004369.4(COL6A3):c.7749G>A (p.Thr2583=)
|
rs758582935
|
0.00005
|
|
NM_004370.6(COL12A1):c.2968G>T (p.Asp990Tyr)
|
rs201996851
|
0.00005
|
|
NM_004370.6(COL12A1):c.4288-5C>T
|
rs544779989
|
0.00005
|
|
NM_004370.6(COL12A1):c.5959C>T (p.Arg1987Cys)
|
rs200870100
|
0.00005
|
|
NM_004380.3(CREBBP):c.3060+10G>A
|
rs398124143
|
0.00005
|
|
NM_004415.4(DSP):c.3971A>T (p.Asn1324Ile)
|
rs749820299
|
0.00005
|
|
NM_004415.4(DSP):c.5555G>A (p.Arg1852His)
|
rs193922669
|
0.00005
|
|
NM_004415.4(DSP):c.643G>A (p.Glu215Lys)
|
rs148095061
|
0.00005
|
|
NM_004415.4(DSP):c.6452G>A (p.Arg2151Gln)
|
rs367759510
|
0.00005
|
|
NM_004415.4(DSP):c.6718C>G (p.Gln2240Glu)
|
rs374262024
|
0.00005
|
|
NM_004415.4(DSP):c.727-10T>G
|
rs375327581
|
0.00005
|
|
NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu)
|
rs201826850
|
0.00005
|
|
NM_004415.4(DSP):c.8507G>A (p.Gly2836Glu)
|
rs764232504
|
0.00005
|
|
NM_004463.3(FGD1):c.2047-5C>A
|
rs368646447
|
0.00005
|
|
NM_004519.4(KCNQ3):c.1995G>A (p.Ser665=)
|
rs759776061
|
0.00005
|
|
NM_004525.3(LRP2):c.3495G>A (p.Ser1165=)
|
rs186494101
|
0.00005
|
|
NM_004560.4(ROR2):c.2444C>T (p.Pro815Leu)
|
rs770921333
|
0.00005
|
|
NM_004560.4(ROR2):c.822C>T (p.Asn274=)
|
rs140557090
|
0.00005
|
|
NM_004606.5(TAF1):c.3227+8G>A
|
rs373273976
|
0.00005
|
|
NM_004655.4(AXIN2):c.2140C>T (p.Arg714Trp)
|
rs148765149
|
0.00005
|
|
NM_004656.4(BAP1):c.1031A>G (p.Asn344Ser)
|
rs142887785
|
0.00005
|
|
NM_004722.4(AP4M1):c.1140G>A (p.Met380Ile)
|
rs574878636
|
0.00005
|
|
NM_004793.4(LONP1):c.613C>T (p.Arg205Cys)
|
rs758142635
|
0.00005
|
|
NM_004817.4(TJP2):c.911G>A (p.Gly304Glu)
|
rs200222645
|
0.00005
|
|
NM_004820.5(CYP7B1):c.1036T>C (p.Leu346=)
|
rs535728519
|
0.00005
|
|
NM_004820.5(CYP7B1):c.171A>T (p.Gly57=)
|
rs372135575
|
0.00005
|
|
NM_004836.7(EIF2AK3):c.744C>T (p.Val248=)
|
rs147298435
|
0.00005
|
|
NM_004990.4(MARS1):c.2024C>G (p.Thr675Ser)
|
rs776411681
|
0.00005
|
|
NM_005002.5(NDUFA9):c.31C>T (p.Arg11Trp)
|
rs780895352
|
0.00005
|
|
NM_005006.7(NDUFS1):c.1699A>G (p.Ile567Val)
|
rs147685849
|
0.00005
|
|
NM_005026.5(PIK3CD):c.1955+15C>T
|
rs186998116
|
0.00005
|
|
NM_005045.4(RELN):c.3086T>C (p.Ile1029Thr)
|
rs757915171
|
0.00005
|
|
NM_005120.3(MED12):c.4864-6C>T
|
rs1018026145
|
0.00005
|
|
NM_005120.3(MED12):c.4971T>C (p.Leu1657=)
|
rs398124198
|
0.00005
|
|
NM_005188.4(CBL):c.1528C>G (p.Pro510Ala)
|
rs538054260
|
0.00005
|
|
NM_005327.7(HADH):c.132+7G>T
|
rs534966818
|
0.00005
|
|
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser)
|
rs377119288
|
0.00005
|
|
NM_005422.4(TECTA):c.2088C>T (p.Cys696=)
|
rs368288093
|
0.00005
|
|
NM_005431.2(XRCC2):c.115G>A (p.Val39Met)
|
rs730882040
|
0.00005
|
|
NM_005477.3(HCN4):c.2864C>T (p.Pro955Leu)
|
rs371562763
|
0.00005
|
|
NM_005502.4(ABCA1):c.5757+12C>T
|
rs769533549
|
0.00005
|
|
NM_005529.7(HSPG2):c.5075G>T (p.Gly1692Val)
|
rs777795072
|
0.00005
|
|
NM_005546.4(ITK):c.496-4C>G
|
rs749411240
|
0.00005
|
|
NM_005609.4(PYGM):c.1239+9G>A
|
rs374937711
|
0.00005
|
|
NM_005629.4(SLC6A8):c.1646A>C (p.Asn549Thr)
|
rs782790088
|
0.00005
|
|
NM_005629.4(SLC6A8):c.820G>A (p.Val274Met)
|
rs782208622
|
0.00005
|
|
NM_005633.4(SOS1):c.2312T>C (p.Ile771Thr)
|
rs557328600
|
0.00005
|
|
NM_005633.4(SOS1):c.3387C>T (p.Gly1129=)
|
rs772823827
|
0.00005
|
|
NM_005654.6(NR2F1):c.505G>A (p.Gly169Ser)
|
rs370606773
|
0.00005
|
|
NM_005732.4(RAD50):c.3496C>T (p.Arg1166Trp)
|
rs587782577
|
0.00005
|
|
NM_005751.5(AKAP9):c.289C>G (p.Gln97Glu)
|
rs786205712
|
0.00005
|
|
NM_005902.4(SMAD3):c.401-7C>T
|
rs774268232
|
0.00005
|
|
NM_005902.4(SMAD3):c.607+9T>A
|
rs886051380
|
0.00005
|
|
NM_006005.3(WFS1):c.498C>G (p.Leu166=)
|
rs758731318
|
0.00005
|
|
NM_006015.6(ARID1A):c.1329C>T (p.Gly443=)
|
rs369923774
|
0.00005
|
|
NM_006017.3(PROM1):c.1344C>T (p.Ile448=)
|
rs147174580
|
0.00005
|
|
NM_006019.4(TCIRG1):c.477G>A (p.Gly159=)
|
rs746159308
|
0.00005
|
|
NM_006031.6(PCNT):c.6141C>T (p.Asp2047=)
|
rs144445891
|
0.00005
|
|
NM_006031.6(PCNT):c.7180-7G>A
|
rs201549624
|
0.00005
|
|
NM_006031.6(PCNT):c.7913+4C>T
|
rs376736200
|
0.00005
|
|
NM_006231.4(POLE):c.2818A>G (p.Met940Val)
|
rs148382941
|
0.00005
|
|
NM_006231.4(POLE):c.4862T>G (p.Val1621Gly)
|
rs534387116
|
0.00005
|
|
NM_006231.4(POLE):c.5253C>T (p.Ala1751=)
|
rs765888059
|
0.00005
|
|
NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg)
|
rs367970442
|
0.00005
|
|
NM_006231.4(POLE):c.844C>T (p.Pro282Ser)
|
rs138207610
|
0.00005
|
|
NM_006420.3(ARFGEF2):c.48G>A (p.Glu16=)
|
rs760130632
|
0.00005
|
|
NM_006432.5(NPC2):c.264T>C (p.Pro88=)
|
rs1011669605
|
0.00005
|
|
NM_006506.5(RASA2):c.807A>T (p.Leu269=)
|
rs757160095
|
0.00005
|
|
NM_006514.4(SCN10A):c.1890G>A (p.Lys630=)
|
rs764191883
|
0.00005
|
|
NM_006514.4(SCN10A):c.3838T>A (p.Ser1280Thr)
|
rs200324539
|
0.00005
|
|
NM_006516.4(SLC2A1):c.276-8G>A
|
rs373084446
|
0.00005
|
|
NM_006623.4(PHGDH):c.372G>A (p.Ala124=)
|
rs146740411
|
0.00005
|
|
NM_006662.3(SRCAP):c.3254T>C (p.Val1085Ala)
|
rs200083101
|
0.00005
|
|
NM_006734.4(HIVEP2):c.5621-7G>T
|
rs749037306
|
0.00005
|
|
NM_006734.4(HIVEP2):c.5846A>G (p.Asn1949Ser)
|
rs376423805
|
0.00005
|
|
NM_006767.4(LZTR1):c.1785+19G>A
|
rs777075178
|
0.00005
|
|
NM_006790.3(MYOT):c.1458G>A (p.Leu486=)
|
rs202139846
|
0.00005
|
|
NM_006892.4(DNMT3B):c.1297+10T>C
|
rs146299831
|
0.00005
|
|
NM_006915.3(RP2):c.8G>C (p.Cys3Ser)
|
rs782344765
|
0.00005
|
|
NM_006922.4(SCN3A):c.4899T>A (p.Arg1633=)
|
rs748935500
|
0.00005
|
|
NM_006941.4(SOX10):c.768G>A (p.Pro256=)
|
rs773109683
|
0.00005
|
|
NM_006946.4(SPTBN2):c.1522A>C (p.Asn508His)
|
rs767775507
|
0.00005
|
|
NM_006949.4(STXBP2):c.1506C>T (p.Pro502=)
|
rs773575515
|
0.00005
|
|
NM_007078.3(LDB3):c.668C>T (p.Ser223Leu)
|
rs375306400
|
0.00005
|
|
NM_007078.3(LDB3):c.793C>T (p.Arg265Cys)
|
rs45521338
|
0.00005
|
|
NM_007078.3(LDB3):c.992C>T (p.Ala331Val)
|
rs368053281
|
0.00005
|
|
NM_007186.6(CEP250):c.3629C>T (p.Ala1210Val)
|
rs199592435
|
0.00005
|
|
NM_007215.4(POLG2):c.361T>G (p.Phe121Val)
|
rs376142071
|
0.00005
|
|
NM_007259.5(VPS45):c.577-5C>T
|
rs1266646389
|
0.00005
|
|
NM_007294.4(BRCA1):c.1974G>C (p.Met658Ile)
|
rs55678461
|
0.00005
|
|
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr)
|
rs80357102
|
0.00005
|
|
NM_007294.4(BRCA1):c.2387C>T (p.Thr796Ile)
|
rs80357364
|
0.00005
|
|
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala)
|
rs80356860
|
0.00005
|
|
NM_007294.4(BRCA1):c.5176A>G (p.Arg1726Gly)
|
rs80357501
|
0.00005
|
|
NM_007315.4(STAT1):c.1582+7G>A
|
rs762378892
|
0.00005
|
|
NM_012144.4(DNAI1):c.1999A>G (p.Lys667Glu)
|
rs560719255
|
0.00005
|
|
NM_012144.4(DNAI1):c.2064G>A (p.Leu688=)
|
rs750785483
|
0.00005
|
|
NM_012193.4(FZD4):c.98C>A (p.Pro33Gln)
|
rs756119359
|
0.00005
|
|
NM_012208.4(HARS2):c.633+4A>T
|
rs372828105
|
0.00005
|
|
NM_012210.4(TRIM32):c.1458C>T (p.Thr486=)
|
rs141965401
|
0.00005
|
|
NM_012210.4(TRIM32):c.693A>C (p.Ala231=)
|
rs368455215
|
0.00005
|
|
NM_012463.4(ATP6V0A2):c.388C>T (p.His130Tyr)
|
rs199801221
|
0.00005
|
|
NM_013382.7(POMT2):c.2057G>A (p.Arg686Gln)
|
rs200163818
|
0.00005
|
|
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser)
|
rs369947678
|
0.00005
|
|
NM_014014.5(SNRNP200):c.4230C>T (p.Gly1410=)
|
rs747476940
|
0.00005
|
|
NM_014014.5(SNRNP200):c.4721T>C (p.Ile1574Thr)
|
rs199736893
|
0.00005
|
|
NM_014049.5(ACAD9):c.1650C>G (p.Ala550=)
|
rs559422558
|
0.00005
|
|
NM_014049.5(ACAD9):c.1717G>A (p.Val573Met)
|
rs138264216
|
0.00005
|
|
NM_014140.4(SMARCAL1):c.735C>T (p.Gly245=)
|
rs149510554
|
0.00005
|
|
NM_014141.6(CNTNAP2):c.2554+14G>T
|
rs546437079
|
0.00005
|
|
NM_014141.6(CNTNAP2):c.3180G>A (p.Ala1060=)
|
rs372645983
|
0.00005
|
|
NM_014141.6(CNTNAP2):c.3271C>G (p.Leu1091Val)
|
rs756994633
|
0.00005
|
|
NM_014159.7(SETD2):c.2155A>G (p.Asn719Asp)
|
rs115859828
|
0.00005
|
|
NM_014251.3(SLC25A13):c.960A>G (p.Pro320=)
|
rs765358773
|
0.00005
|
|
NM_014252.4(SLC25A15):c.381G>A (p.Thr127=)
|
rs543205273
|
0.00005
|
|
NM_014252.4(SLC25A15):c.388G>A (p.Val130Met)
|
rs553432772
|
0.00005
|
|
NM_014252.4(SLC25A15):c.417G>A (p.Glu139=)
|
rs752316567
|
0.00005
|
|
NM_014336.5(AIPL1):c.616A>G (p.Ile206Val)
|
rs772911646
|
0.00005
|
|
NM_014336.5(AIPL1):c.900G>C (p.Ala300=)
|
rs373590751
|
0.00005
|
|
NM_014363.6(SACS):c.11363G>A (p.Arg3788His)
|
rs147369196
|
0.00005
|
|
NM_014363.6(SACS):c.11884A>T (p.Ile3962Leu)
|
rs746953932
|
0.00005
|
|
NM_014363.6(SACS):c.1202G>A (p.Arg401Gln)
|
rs749599838
|
0.00005
|
|
NM_014363.6(SACS):c.13039A>G (p.Ile4347Val)
|
rs200939906
|
0.00005
|
|
NM_014363.6(SACS):c.1613C>T (p.Ala538Val)
|
rs368043113
|
0.00005
|
|
NM_014363.6(SACS):c.447G>A (p.Ala149=)
|
rs145681117
|
0.00005
|
|
NM_014363.6(SACS):c.7614A>C (p.Ala2538=)
|
rs142697365
|
0.00005
|
|
NM_014467.3(SRPX2):c.224A>T (p.Lys75Met)
|
rs767072861
|
0.00005
|
|
NM_014714.4(IFT140):c.2817G>A (p.Ser939=)
|
rs373651150
|
0.00005
|
|
NM_014714.4(IFT140):c.3779G>A (p.Arg1260Gln)
|
rs571556177
|
0.00005
|
|
NM_014727.3(KMT2B):c.5092G>A (p.Asp1698Asn)
|
rs374963939
|
0.00005
|
|
NM_014780.5(CUL7):c.4146T>C (p.Tyr1382=)
|
rs760451045
|
0.00005
|
|
NM_014795.4(ZEB2):c.1876G>A (p.Gly626Arg)
|
rs727504224
|
0.00005
|
|
NM_014795.4(ZEB2):c.219C>T (p.His73=)
|
rs778851716
|
0.00005
|
|
NM_014795.4(ZEB2):c.295A>G (p.Asn99Asp)
|
rs150665982
|
0.00005
|
|
NM_014822.4(SEC24D):c.1091A>G (p.Asn364Ser)
|
rs189735385
|
0.00005
|
|
NM_014855.3(AP5Z1):c.1356G>A (p.Ala452=)
|
rs558636596
|
0.00005
|
|
NM_014855.3(AP5Z1):c.1974C>T (p.Tyr658=)
|
rs375030531
|
0.00005
|
|
NM_014874.4(MFN2):c.179C>T (p.Thr60Met)
|
rs138345244
|
0.00005
|
|
NM_014946.4(SPAST):c.30G>A (p.Lys10=)
|
rs768928614
|
0.00005
|
|
NM_014989.7(RIMS1):c.28C>T (p.Pro10Ser)
|
rs200935038
|
0.00005
|
|
NM_015046.7(SETX):c.2862G>A (p.Thr954=)
|
rs149610510
|
0.00005
|
|
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr)
|
rs373375060
|
0.00005
|
|
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu)
|
rs140781535
|
0.00005
|
|
NM_015102.5(NPHP4):c.1851C>T (p.Ala617=)
|
rs201192584
|
0.00005
|
|
NM_015202.5(KATNIP):c.-2G>A
|
rs112949559
|
0.00005
|
|
NM_015295.3(SMCHD1):c.3802-12T>C
|
rs199707863
|
0.00005
|
|
NM_015295.3(SMCHD1):c.4461A>G (p.Gln1487=)
|
rs763699437
|
0.00005
|
|
NM_015443.4(KANSL1):c.1276C>T (p.Arg426Cys)
|
rs757224600
|
0.00005
|
|
NM_015627.3(LDLRAP1):c.201G>A (p.Ser67=)
|
rs747011377
|
0.00005
|
|
NM_015627.3(LDLRAP1):c.75T>A (p.Gly25=)
|
rs1057515462
|
0.00005
|
|
NM_015629.4(PRPF31):c.138T>C (p.Asp46=)
|
rs76251057
|
0.00005
|
|
NM_015650.4(TRAF3IP1):c.1451+5G>A
|
rs200601081
|
0.00005
|
|
NM_015713.5(RRM2B):c.544A>G (p.Thr182Ala)
|
rs147315735
|
0.00005
|
|
NM_015713.5(RRM2B):c.685-4T>G
|
rs202172163
|
0.00005
|
|
NM_015915.5(ATL1):c.1120-15C>T
|
rs771568686
|
0.00005
|
|
NM_016123.4(IRAK4):c.742C>T (p.Leu248=)
|
rs375755560
|
0.00005
|
|
NM_016203.4(PRKAG2):c.1679-3C>T
|
rs371543989
|
0.00005
|
|
NM_016239.4(MYO15A):c.4526T>C (p.Ile1509Thr)
|
rs757305597
|
0.00005
|
|
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter)
|
rs375290498
|
0.00005
|
|
NM_016239.4(MYO15A):c.8170G>A (p.Glu2724Lys)
|
rs142465521
|
0.00005
|
|
NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His)
|
rs371068504
|
0.00005
|
|
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr)
|
rs567909904
|
0.00005
|
|
NM_017636.4(TRPM4):c.1873+4C>T
|
rs746766318
|
0.00005
|
|
NM_017654.4(SAMD9):c.3519A>C (p.Arg1173Ser)
|
rs566059003
|
0.00005
|
|
NM_017654.4(SAMD9):c.4396G>A (p.Gly1466Arg)
|
rs755857667
|
0.00005
|
|
NM_017763.6(RNF43):c.1556G>A (p.Arg519Gln)
|
rs200166143
|
0.00005
|
|
NM_017780.4(CHD7):c.8356G>A (p.Gly2786Arg)
|
rs765315726
|
0.00005
|
|
NM_017802.4(DNAAF5):c.1487G>A (p.Arg496His)
|
rs149610399
|
0.00005
|
|
NM_017837.4(PIGV):c.115G>A (p.Glu39Lys)
|
rs369275802
|
0.00005
|
|
NM_018060.4(IARS2):c.800G>A (p.Arg267His)
|
rs377432411
|
0.00005
|
|
NM_018136.5(ASPM):c.1579G>C (p.Glu527Gln)
|
rs376058344
|
0.00005
|
|
NM_018136.5(ASPM):c.19G>C (p.Gly7Arg)
|
rs776662758
|
0.00005
|
|
NM_018136.5(ASPM):c.2532C>T (p.Val844=)
|
rs141716537
|
0.00005
|
|
NM_018136.5(ASPM):c.9657T>G (p.Ser3219=)
|
rs756879923
|
0.00005
|
|
NM_018418.5(SPATA7):c.1446C>T (p.Asn482=)
|
rs766017194
|
0.00005
|
|
NM_018668.5(VPS33B):c.1749C>T (p.Ala583=)
|
rs201436915
|
0.00005
|
|
NM_018714.3(COG1):c.20C>T (p.Ser7Leu)
|
rs200144944
|
0.00005
|
|
NM_018896.5(CACNA1G):c.1556C>T (p.Pro519Leu)
|
rs757227515
|
0.00005
|
|
NM_018979.4(WNK1):c.7138C>T (p.Arg2380Trp)
|
rs56262445
|
0.00005
|
|
NM_020166.5(MCCC1):c.1941C>T (p.Gly647=)
|
rs199528231
|
0.00005
|
|
NM_020247.5(COQ8A):c.1407C>T (p.Tyr469=)
|
rs773258464
|
0.00005
|
|
NM_020247.5(COQ8A):c.1809C>T (p.Pro603=)
|
rs774789966
|
0.00005
|
|
NM_020247.5(COQ8A):c.798G>A (p.Thr266=)
|
rs750042754
|
0.00005
|
|
NM_020297.4(ABCC9):c.4512+777G>A
|
rs542730918
|
0.00005
|
|
NM_020376.4(PNPLA2):c.591C>T (p.Asp197=)
|
rs200897893
|
0.00005
|
|
NM_020461.4(TUBGCP6):c.4954+10C>T
|
rs200824422
|
0.00005
|
|
NM_020533.3(MCOLN1):c.876C>T (p.His292=)
|
rs199588225
|
0.00005
|
|
NM_020778.5(ALPK3):c.2648C>T (p.Pro883Leu)
|
rs771710451
|
0.00005
|
|
NM_020778.5(ALPK3):c.2660C>T (p.Pro887Leu)
|
rs759973437
|
0.00005
|
|
NM_020778.5(ALPK3):c.695C>T (p.Ala232Val)
|
rs777917827
|
0.00005
|
|
NM_020822.3(KCNT1):c.408C>T (p.Leu136=)
|
rs370046449
|
0.00005
|
|
NM_020944.3(GBA2):c.2425G>A (p.Val809Ile)
|
rs778985234
|
0.00005
|
|
NM_020949.3(SLC7A14):c.541+3G>A
|
rs369721277
|
0.00005
|
|
NM_020964.3(EPG5):c.2373C>T (p.Asp791=)
|
rs552419530
|
0.00005
|
|
NM_021008.4(DEAF1):c.1010C>G (p.Pro337Arg)
|
rs372135504
|
0.00005
|
|
NM_021076.4(NEFH):c.2362C>A (p.Pro788Thr)
|
rs1346622497
|
0.00005
|
|
NM_021098.3(CACNA1H):c.1502G>A (p.Gly501Glu)
|
rs768197900
|
0.00005
|
|
NM_021098.3(CACNA1H):c.740T>G (p.Val247Gly)
|
rs200939989
|
0.00005
|
|
NM_021615.5(CHST6):c.918C>T (p.Ile306=)
|
rs576445739
|
0.00005
|
|
NM_021913.5(AXL):c.236C>T (p.Ala79Val)
|
rs776776986
|
0.00005
|
|
NM_021969.3(NR0B2):c.532G>A (p.Asp178Asn)
|
rs201991593
|
0.00005
|
|
NM_022081.6(HPS4):c.1857G>A (p.Pro619=)
|
rs373421312
|
0.00005
|
|
NM_022089.4(ATP13A2):c.1202G>A (p.Cys401Tyr)
|
rs377186549
|
0.00005
|
|
NM_022124.6(CDH23):c.330C>T (p.His110=)
|
rs201232514
|
0.00005
|
|
NM_022124.6(CDH23):c.4857C>T (p.His1619=)
|
rs369817589
|
0.00005
|
|
NM_022124.6(CDH23):c.5481G>T (p.Gly1827=)
|
rs375545532
|
0.00005
|
|
NM_022367.4(SEMA4A):c.97G>A (p.Gly33Arg)
|
rs753853752
|
0.00005
|
|
NM_022436.3(ABCG5):c.1180C>T (p.Leu394=)
|
rs771802286
|
0.00005
|
|
NM_022436.3(ABCG5):c.1500A>G (p.Gly500=)
|
rs767584159
|
0.00005
|
|
NM_022455.5(NSD1):c.2266A>G (p.Asn756Asp)
|
rs142657029
|
0.00005
|
|
NM_022455.5(NSD1):c.3068G>A (p.Arg1023Gln)
|
rs756022347
|
0.00005
|
|
NM_022455.5(NSD1):c.4303-4A>G
|
rs775759198
|
0.00005
|
|
NM_022489.4(INF2):c.1485G>A (p.Pro495=)
|
rs780642540
|
0.00005
|
|
NM_022489.4(INF2):c.638C>T (p.Ala213Val)
|
rs746572452
|
0.00005
|
|
NM_022773.4(LMF1):c.910G>A (p.Val304Ile)
|
rs763719430
|
0.00005
|
|
NM_024334.3(TMEM43):c.679C>G (p.His227Asp)
|
rs201460674
|
0.00005
|
|
NM_024411.5(PDYN):c.74G>A (p.Arg25Gln)
|
rs369559888
|
0.00005
|
|
NM_024422.6(DSC2):c.835C>T (p.Arg279Cys)
|
rs193922708
|
0.00005
|
|
NM_024529.5(CDC73):c.1031-5C>T
|
rs746118697
|
0.00005
|
|
NM_024642.5(GALNT12):c.427G>A (p.Ala143Thr)
|
rs765088669
|
0.00005
|
|
NM_024675.4(PALB2):c.1337A>T (p.Asp446Val)
|
rs146434474
|
0.00005
|
|
NM_024675.4(PALB2):c.3404G>A (p.Gly1135Glu)
|
rs730881894
|
0.00005
|
|
NM_024675.4(PALB2):c.3412G>A (p.Ala1138Thr)
|
rs577651839
|
0.00005
|
|
NM_024678.6(NARS2):c.990A>G (p.Leu330=)
|
rs544972589
|
0.00005
|
|
NM_024685.4(BBS10):c.42G>A (p.Ala14=)
|
rs373458861
|
0.00005
|
|
NM_024747.6(HPS6):c.455C>T (p.Ser152Leu)
|
rs369112226
|
0.00005
|
|
NM_024753.5(TTC21B):c.2356G>A (p.Gly786Arg)
|
rs202087501
|
0.00005
|
|
NM_025074.7(FRAS1):c.4807C>T (p.Arg1603Trp)
|
rs961911715
|
0.00005
|
|
NM_025099.6(CTC1):c.648-9C>T
|
rs779778738
|
0.00005
|
|
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala)
|
rs375038986
|
0.00005
|
|
NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys)
|
rs201082396
|
0.00005
|
|
NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln)
|
rs752401008
|
0.00005
|
|
NM_025215.6(PUS1):c.1068G>A (p.Leu356=)
|
rs201753270
|
0.00005
|
|
NM_025216.3(WNT10A):c.551G>A (p.Arg184His)
|
rs372756514
|
0.00005
|
|
NM_030662.4(MAP2K2):c.281C>T (p.Ser94Leu)
|
rs202220799
|
0.00005
|
|
NM_030662.4(MAP2K2):c.536G>A (p.Arg179Gln)
|
rs776316565
|
0.00005
|
|
NM_030665.4(RAI1):c.3030C>A (p.Ala1010=)
|
rs542714936
|
0.00005
|
|
NM_030665.4(RAI1):c.4726C>T (p.Arg1576Cys)
|
rs199790171
|
0.00005
|
|
NM_031448.6(C19orf12):c.68C>T (p.Ala23Val)
|
rs544395324
|
0.00005
|
|
NM_031475.3(ESPN):c.2027C>G (p.Thr676Arg)
|
rs771737095
|
0.00005
|
|
NM_031892.3(SH3KBP1):c.1820C>T (p.Ala607Val)
|
rs200596121
|
0.00005
|
|
NM_032119.4(ADGRV1):c.10475C>T (p.Ser3492Phe)
|
rs375619656
|
0.00005
|
|
NM_032119.4(ADGRV1):c.11253C>T (p.Tyr3751=)
|
rs376689763
|
0.00005
|
|
NM_032119.4(ADGRV1):c.12208G>A (p.Val4070Ile)
|
rs200943280
|
0.00005
|
|
NM_032119.4(ADGRV1):c.12688G>A (p.Glu4230Lys)
|
rs777661211
|
0.00005
|
|
NM_032119.4(ADGRV1):c.13340G>A (p.Gly4447Asp)
|
rs532839486
|
0.00005
|
|
NM_032119.4(ADGRV1):c.15884A>T (p.Glu5295Val)
|
rs766907011
|
0.00005
|
|
NM_032119.4(ADGRV1):c.16325G>A (p.Gly5442Asp)
|
rs376505416
|
0.00005
|
|
NM_032119.4(ADGRV1):c.18144T>C (p.His6048=)
|
rs188017433
|
0.00005
|
|
NM_032119.4(ADGRV1):c.18217G>A (p.Val6073Met)
|
rs377173958
|
0.00005
|
|
NM_032119.4(ADGRV1):c.4703G>A (p.Ser1568Asn)
|
rs758104018
|
0.00005
|
|
NM_032119.4(ADGRV1):c.4786G>A (p.Val1596Ile)
|
rs371179945
|
0.00005
|
|
NM_032119.4(ADGRV1):c.5574C>A (p.Asp1858Glu)
|
rs771317730
|
0.00005
|
|
NM_032119.4(ADGRV1):c.6859G>A (p.Val2287Ile)
|
rs868801998
|
0.00005
|
|
NM_032119.4(ADGRV1):c.8110A>T (p.Ile2704Phe)
|
rs376318779
|
0.00005
|
|
NM_032237.5(POMK):c.256C>T (p.Arg86Cys)
|
rs370978230
|
0.00005
|
|
NM_032409.3(PINK1):c.1065A>G (p.Gln355=)
|
rs370470902
|
0.00005
|
|
NM_032578.4(MYPN):c.1858A>G (p.Thr620Ala)
|
rs144031245
|
0.00005
|
|
NM_032581.4(HYCC1):c.281A>G (p.Asn94Ser)
|
rs201252505
|
0.00005
|
|
NM_032806.6(POMGNT2):c.12G>A (p.Ser4=)
|
rs368531523
|
0.00005
|
|
NM_033118.4(MYLK2):c.1123G>A (p.Asp375Asn)
|
rs397517472
|
0.00005
|
|
NM_033159.4(HYAL1):c.150C>T (p.Asp50=)
|
rs377272298
|
0.00005
|
|
NM_033159.4(HYAL1):c.846G>A (p.Pro282=)
|
rs782094366
|
0.00005
|
|
NM_033337.3(CAV3):c.244G>A (p.Val82Ile)
|
rs112626848
|
0.00005
|
|
NM_033337.3(CAV3):c.451G>A (p.Val151Ile)
|
rs780870487
|
0.00005
|
|
NM_033380.3(COL4A5):c.2348C>T (p.Pro783Leu)
|
rs747288279
|
0.00005
|
|
NM_033380.3(COL4A5):c.4550G>A (p.Arg1517His)
|
rs104886285
|
0.00005
|
|
NM_052845.4(MMAB):c.665C>T (p.Thr222Met)
|
rs142070439
|
0.00005
|
|
NM_052867.4(NALCN):c.1765-6T>G
|
rs370198465
|
0.00005
|
|
NM_052989.3(IFT122):c.228C>T (p.Ser76=)
|
rs772835552
|
0.00005
|
|
NM_052989.3(IFT122):c.876C>T (p.Gly292=)
|
rs768782991
|
0.00005
|
|
NM_053025.4(MYLK):c.4292C>T (p.Pro1431Leu)
|
rs746690413
|
0.00005
|
|
NM_053025.4(MYLK):c.5702C>T (p.Thr1901Met)
|
rs200490629
|
0.00005
|
|
NM_080425.4(GNAS):c.1462G>A (p.Ala488Thr)
|
rs552813440
|
0.00005
|
|
NM_080680.3(COL11A2):c.2591C>A (p.Ser864Tyr)
|
rs373490721
|
0.00005
|
|
NM_080680.3(COL11A2):c.2735T>C (p.Val912Ala)
|
rs548592690
|
0.00005
|
|
NM_080680.3(COL11A2):c.3675C>T (p.Gly1225=)
|
rs771644818
|
0.00005
|
|
NM_080680.3(COL11A2):c.4675C>T (p.Arg1559Trp)
|
rs370966667
|
0.00005
|
|
NM_130837.3(OPA1):c.2544T>A (p.Asn848Lys)
|
rs758248456
|
0.00005
|
|
NM_130839.5(UBE3A):c.1179T>C (p.Asp393=)
|
rs143000400
|
0.00005
|
|
NM_133379.5(TTN):c.14015C>T (p.Ala4672Val)
|
rs551658963
|
0.00005
|
|
NM_133642.5(LARGE1):c.1389C>T (p.Tyr463=)
|
rs115686643
|
0.00005
|
|
NM_138691.3(TMC1):c.885-11T>C
|
rs768694342
|
0.00005
|
|
NM_138694.4(PKHD1):c.11224G>A (p.Ala3742Thr)
|
rs557211301
|
0.00005
|
|
NM_138694.4(PKHD1):c.11607C>T (p.Ala3869=)
|
rs752509045
|
0.00005
|
|
NM_139058.3(ARX):c.223T>G (p.Phe75Val)
|
rs999545482
|
0.00005
|
|
NM_139343.3(BIN1):c.924C>T (p.Pro308=)
|
rs367611371
|
0.00005
|
|
NM_144573.4(NEXN):c.865-5G>A
|
rs727505353
|
0.00005
|
|
NM_144639.3(UROC1):c.970C>T (p.Arg324Cys)
|
rs377309471
|
0.00005
|
|
NM_144670.6(A2ML1):c.2984C>T (p.Thr995Met)
|
rs755702632
|
0.00005
|
|
NM_144997.7(FLCN):c.1265C>T (p.Pro422Leu)
|
rs565447853
|
0.00005
|
|
NM_144997.7(FLCN):c.1387T>C (p.Tyr463His)
|
rs770077517
|
0.00005
|
|
NM_145290.4(ADGRA3):c.1237C>T (p.Arg413Cys)
|
rs774236322
|
0.00005
|
|
NM_147196.3(TMIE):c.366T>G (p.Asp122Glu)
|
rs370899710
|
0.00005
|
|
NM_152296.5(ATP1A3):c.1924G>A (p.Val642Ile)
|
rs201391210
|
0.00005
|
|
NM_152383.5(DIS3L2):c.1125-6T>G
|
rs764758535
|
0.00005
|
|
NM_152383.5(DIS3L2):c.1158C>T (p.Thr386=)
|
rs539081624
|
0.00005
|
|
NM_152383.5(DIS3L2):c.2159-7T>C
|
rs368022190
|
0.00005
|
|
NM_152384.3(BBS5):c.-2C>A
|
rs199854347
|
0.00005
|
|
NM_152564.5(VPS13B):c.10626G>A (p.Val3542=)
|
rs139227281
|
0.00005
|
|
NM_152564.5(VPS13B):c.10755C>T (p.Asp3585=)
|
rs145950999
|
0.00005
|
|
NM_152564.5(VPS13B):c.1652-9T>A
|
rs375615155
|
0.00005
|
|
NM_152564.5(VPS13B):c.6056A>G (p.Asn2019Ser)
|
rs534471615
|
0.00005
|
|
NM_152783.5(D2HGDH):c.1306+7G>A
|
rs537773004
|
0.00005
|
|
NM_152783.5(D2HGDH):c.854-8C>T
|
rs758727451
|
0.00005
|
|
NM_153252.5(BRWD3):c.436A>G (p.Ile146Val)
|
rs758672244
|
0.00005
|
|
NM_153676.4(USH1C):c.1234G>A (p.Asp412Asn)
|
rs727503712
|
0.00005
|
|
NM_153676.4(USH1C):c.1597G>A (p.Ala533Thr)
|
rs201104489
|
0.00005
|
|
NM_153700.2(STRC):c.4903G>T (p.Val1635Phe)
|
rs2915791
|
0.00005
|
|
NM_170699.3(GPBAR1):c.857G>A (p.Arg286His)
|
rs201573186
|
0.00005
|
|
NM_170707.4(LMNA):c.1488G>A (p.Thr496=)
|
rs375516745
|
0.00005
|
|
NM_170754.4(TNS2):c.3158C>G (p.Pro1053Arg)
|
rs375650806
|
0.00005
|
|
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe)
|
rs199749473
|
0.00005
|
|
NM_172250.3(MMAA):c.912G>A (p.Ala304=)
|
rs371769807
|
0.00005
|
|
NM_172364.5(CACNA2D4):c.2054+4A>T
|
rs200648405
|
0.00005
|
|
NM_173354.5(SIK1):c.1055A>G (p.Gln352Arg)
|
rs767076281
|
0.00005
|
|
NM_173689.7(CRB2):c.1110C>T (p.Gly370=)
|
rs145948620
|
0.00005
|
|
NM_173689.7(CRB2):c.2745C>T (p.Gly915=)
|
rs527637248
|
0.00005
|
|
NM_174878.3(CLRN1):c.20A>T (p.Lys7Ile)
|
rs3796241
|
0.00005
|
|
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln)
|
rs139669564
|
0.00005
|
|
NM_175914.5(HNF4A):c.*4G>A
|
rs193922468
|
0.00005
|
|
NM_175914.5(HNF4A):c.241G>A (p.Val81Met)
|
rs772786482
|
0.00005
|
|
NM_177972.3(TUB):c.1214A>G (p.Asn405Ser)
|
rs189328202
|
0.00005
|
|
NM_178452.6(DNAAF1):c.1592C>T (p.Thr531Met)
|
rs193291760
|
0.00005
|
|
NM_181332.3(NLGN4X):c.999G>A (p.Pro333=)
|
rs398124367
|
0.00005
|
|
NM_181741.4(ORC4):c.763-4T>G
|
rs769409347
|
0.00005
|
|
NM_181882.3(PRX):c.2164A>G (p.Met722Val)
|
rs376309142
|
0.00005
|
|
NM_182894.3(VSX2):c.504C>T (p.Asn168=)
|
rs550984628
|
0.00005
|
|
NM_182914.3(SYNE2):c.3885C>T (p.His1295=)
|
rs570341792
|
0.00005
|
|
NM_182914.3(SYNE2):c.6685C>G (p.Leu2229Val)
|
rs375543783
|
0.00005
|
|
NM_182961.4(SYNE1):c.10443+5G>A
|
rs557835636
|
0.00005
|
|
NM_182961.4(SYNE1):c.20069C>T (p.Thr6690Met)
|
rs143674856
|
0.00005
|
|
NM_183357.3(ADCY5):c.2564C>T (p.Thr855Met)
|
rs138954200
|
0.00005
|
|
NM_194248.3(OTOF):c.2075G>A (p.Arg692Gln)
|
rs147978393
|
0.00005
|
|
NM_194248.3(OTOF):c.2567A>T (p.Asn856Ile)
|
rs752804141
|
0.00005
|
|
NM_194248.3(OTOF):c.3865-12G>A
|
rs374902867
|
0.00005
|
|
NM_198525.3(KIF7):c.3795G>A (p.Thr1265=)
|
rs148749994
|
0.00005
|
|
NM_198576.4(AGRN):c.526C>T (p.Leu176=)
|
rs544749044
|
0.00005
|
|
NM_198904.4(GABRG2):c.549-3T>G
|
rs750459631
|
0.00005
|
|
NM_198999.3(SLC26A5):c.2079T>C (p.Phe693=)
|
rs762004358
|
0.00005
|
|
NM_201384.3(PLEC):c.11438G>A (p.Arg3813His)
|
rs782311906
|
0.00005
|
|
NM_201384.3(PLEC):c.3873G>A (p.Ala1291=)
|
rs374669316
|
0.00005
|
|
NM_201384.3(PLEC):c.4326G>A (p.Ala1442=)
|
rs369943756
|
0.00005
|
|
NM_201384.3(PLEC):c.6168C>T (p.Phe2056=)
|
rs370313601
|
0.00005
|
|
NM_201384.3(PLEC):c.7485C>T (p.Phe2495=)
|
rs542567139
|
0.00005
|
|
NM_201384.3(PLEC):c.7666C>T (p.Arg2556Trp)
|
rs781882121
|
0.00005
|
|
NM_201384.3(PLEC):c.9528C>T (p.Ala3176=)
|
rs368317567
|
0.00005
|
|
NM_206933.4(USH2A):c.11443A>G (p.Ser3815Gly)
|
rs149527139
|
0.00005
|
|
NM_206933.4(USH2A):c.14073C>T (p.Asn4691=)
|
rs370364142
|
0.00005
|
|
NM_206933.4(USH2A):c.1448C>T (p.Thr483Met)
|
rs201847741
|
0.00005
|
|
NM_206933.4(USH2A):c.14557A>G (p.Met4853Val)
|
rs753594462
|
0.00005
|
|
NM_206933.4(USH2A):c.14760C>T (p.Ser4920=)
|
rs778669346
|
0.00005
|
|
NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val)
|
rs200276882
|
0.00005
|
|
NM_206933.4(USH2A):c.7000A>G (p.Asn2334Asp)
|
rs201281141
|
0.00005
|
|
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His)
|
rs533700989
|
0.00005
|
|
NM_207122.2(EXT2):c.284G>A (p.Arg95His)
|
rs143703574
|
0.00005
|
|
NM_207361.6(FREM2):c.6807G>A (p.Ser2269=)
|
rs752080876
|
0.00005
|
|
NM_000016.6(ACADM):c.287-10G>C
|
rs368875210
|
0.00004
|
|
NM_000016.6(ACADM):c.57T>C (p.His19=)
|
rs762984318
|
0.00004
|
|
NM_000017.4(ACADS):c.1104C>T (p.Gly368=)
|
rs200165866
|
0.00004
|
|
NM_000017.4(ACADS):c.147C>G (p.Ala49=)
|
rs202193021
|
0.00004
|
|
NM_000018.4(ACADVL):c.139-20C>T
|
rs374535729
|
0.00004
|
|
NM_000018.4(ACADVL):c.342+15G>A
|
rs777751102
|
0.00004
|
|
NM_000020.3(ACVRL1):c.948G>C (p.Glu316Asp)
|
rs145300204
|
0.00004
|
|
NM_000022.4(ADA):c.21C>T (p.Phe7=)
|
rs925528695
|
0.00004
|
|
NM_000022.4(ADA):c.642C>T (p.His214=)
|
rs562055008
|
0.00004
|
|
NM_000023.4(SGCA):c.1053C>T (p.Arg351=)
|
rs148373921
|
0.00004
|
|
NM_000023.4(SGCA):c.270C>T (p.Tyr90=)
|
rs749205073
|
0.00004
|
|
NM_000023.4(SGCA):c.90A>G (p.Pro30=)
|
rs754840688
|
0.00004
|
|
NM_000026.4(ADSL):c.1011-9G>C
|
rs780794164
|
0.00004
|
|
NM_000027.4(AGA):c.24T>C (p.Pro8=)
|
rs34413111
|
0.00004
|
|
NM_000033.4(ABCD1):c.2173G>A (p.Ala725Thr)
|
rs782809184
|
0.00004
|
|
NM_000033.4(ABCD1):c.40A>G (p.Thr14Ala)
|
rs781900720
|
0.00004
|
|
NM_000037.4(ANK1):c.5600C>T (p.Ala1867Val)
|
rs767580738
|
0.00004
|
|
NM_000038.6(APC):c.1549-13A>T
|
rs587781267
|
0.00004
|
|
NM_000038.6(APC):c.1762G>A (p.Val588Ile)
|
rs372416031
|
0.00004
|
|
NM_000038.6(APC):c.2534G>A (p.Arg845His)
|
rs776878597
|
0.00004
|
|
NM_000038.6(APC):c.2627G>A (p.Arg876Gln)
|
rs373428732
|
0.00004
|
|
NM_000038.6(APC):c.263G>A (p.Arg88Gln)
|
rs587780592
|
0.00004
|
|
NM_000038.6(APC):c.2948T>C (p.Ile983Thr)
|
rs113674464
|
0.00004
|
|
NM_000038.6(APC):c.317G>A (p.Arg106His)
|
rs201764637
|
0.00004
|
|
NM_000038.6(APC):c.3245C>G (p.Thr1082Ser)
|
rs730881244
|
0.00004
|
|
NM_000038.6(APC):c.3368A>C (p.Gln1123Pro)
|
rs587779789
|
0.00004
|
|
NM_000038.6(APC):c.3436C>T (p.Arg1146Cys)
|
rs202168805
|
0.00004
|
|
NM_000038.6(APC):c.3628C>T (p.His1210Tyr)
|
rs145181563
|
0.00004
|
|
NM_000038.6(APC):c.4055T>C (p.Val1352Ala)
|
rs528724202
|
0.00004
|
|
NM_000038.6(APC):c.4073C>T (p.Ala1358Val)
|
rs730881249
|
0.00004
|
|
NM_000038.6(APC):c.4395T>A (p.Ser1465Arg)
|
rs779898882
|
0.00004
|
|
NM_000038.6(APC):c.449A>G (p.Lys150Arg)
|
rs371085910
|
0.00004
|
|
NM_000038.6(APC):c.4901C>T (p.Pro1634Leu)
|
rs370433763
|
0.00004
|
|
NM_000038.6(APC):c.5083A>G (p.Arg1695Gly)
|
rs555019540
|
0.00004
|
|
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu)
|
rs368080169
|
0.00004
|
|
NM_000038.6(APC):c.5839A>G (p.Thr1947Ala)
|
rs746346292
|
0.00004
|
|
NM_000038.6(APC):c.5894A>C (p.His1965Pro)
|
rs773776516
|
0.00004
|
|
NM_000038.6(APC):c.6019T>C (p.Tyr2007His)
|
rs745811356
|
0.00004
|
|
NM_000038.6(APC):c.6117G>T (p.Leu2039Phe)
|
rs372418435
|
0.00004
|
|
NM_000038.6(APC):c.6639G>A (p.Met2213Ile)
|
rs35540155
|
0.00004
|
|
NM_000038.6(APC):c.6682A>G (p.Arg2228Gly)
|
rs199648202
|
0.00004
|
|
NM_000038.6(APC):c.6694C>G (p.His2232Asp)
|
rs730881256
|
0.00004
|
|
NM_000038.6(APC):c.669A>C (p.Gln223His)
|
rs769482880
|
0.00004
|
|
NM_000038.6(APC):c.7402T>C (p.Ser2468Pro)
|
rs375586273
|
0.00004
|
|
NM_000038.6(APC):c.7531C>T (p.Leu2511Phe)
|
rs72541815
|
0.00004
|
|
NM_000038.6(APC):c.7570A>G (p.Lys2524Glu)
|
rs143060722
|
0.00004
|
|
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala)
|
rs138137162
|
0.00004
|
|
NM_000038.6(APC):c.7832C>A (p.Thr2611Lys)
|
rs587778037
|
0.00004
|
|
NM_000038.6(APC):c.8261G>A (p.Ser2754Asn)
|
rs369721828
|
0.00004
|
|
NM_000038.6(APC):c.8402G>A (p.Arg2801Gln)
|
rs754363694
|
0.00004
|
|
NM_000038.6(APC):c.995G>A (p.Arg332Gln)
|
rs377665107
|
0.00004
|
|
NM_000039.3(APOA1):c.498C>A (p.Ser166Arg)
|
rs757899657
|
0.00004
|
|
NM_000045.4(ARG1):c.944T>C (p.Ile315Thr)
|
rs202219126
|
0.00004
|
|
NM_000046.5(ARSB):c.105G>A (p.Pro35=)
|
rs1423589060
|
0.00004
|
|
NM_000046.5(ARSB):c.1086G>A (p.Arg362=)
|
rs144879531
|
0.00004
|
|
NM_000046.5(ARSB):c.510G>C (p.Leu170=)
|
rs768312895
|
0.00004
|
|
NM_000046.5(ARSB):c.975C>T (p.Gly325=)
|
rs75766476
|
0.00004
|
|
NM_000048.4(ASL):c.1063-8G>A
|
rs548397162
|
0.00004
|
|
NM_000051.4(ATM):c.1351C>T (p.Arg451Cys)
|
rs201719927
|
0.00004
|
|
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys)
|
rs587779816
|
0.00004
|
|
NM_000051.4(ATM):c.1888G>A (p.Val630Met)
|
rs148191382
|
0.00004
|
|
NM_000051.4(ATM):c.202A>G (p.Ile68Val)
|
rs35389822
|
0.00004
|
|
NM_000051.4(ATM):c.2040C>T (p.Phe680=)
|
rs587780855
|
0.00004
|
|
NM_000051.4(ATM):c.2836A>G (p.Met946Val)
|
rs587781992
|
0.00004
|
|
NM_000051.4(ATM):c.283C>A (p.Gln95Lys)
|
rs587781545
|
0.00004
|
|
NM_000051.4(ATM):c.3154-5C>T
|
rs55719759
|
0.00004
|
|
NM_000051.4(ATM):c.3378A>G (p.Lys1126=)
|
rs149182949
|
0.00004
|
|
NM_000051.4(ATM):c.3577-6G>A
|
rs56006345
|
0.00004
|
|
NM_000051.4(ATM):c.3601T>A (p.Phe1201Ile)
|
rs576884305
|
0.00004
|
|
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu)
|
rs141087784
|
0.00004
|
|
NM_000051.4(ATM):c.4606A>G (p.Lys1536Glu)
|
rs587779841
|
0.00004
|
|
NM_000051.4(ATM):c.4777-13T>A
|
rs371535082
|
0.00004
|
|
NM_000051.4(ATM):c.6101G>A (p.Arg2034Gln)
|
rs3218670
|
0.00004
|
|
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr)
|
rs587781365
|
0.00004
|
|
NM_000051.4(ATM):c.7816A>G (p.Ile2606Val)
|
rs376824528
|
0.00004
|
|
NM_000051.4(ATM):c.8391T>C (p.Ser2797=)
|
rs566485657
|
0.00004
|
|
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys)
|
rs1800558
|
0.00004
|
|
NM_000052.7(ATP7A):c.1156A>G (p.Met386Val)
|
rs369419911
|
0.00004
|
|
NM_000052.7(ATP7A):c.2499-7T>C
|
rs782260332
|
0.00004
|
|
NM_000052.7(ATP7A):c.3863A>G (p.Gln1288Arg)
|
rs375788705
|
0.00004
|
|
NM_000053.4(ATP7B):c.1158G>T (p.Gly386=)
|
rs778775834
|
0.00004
|
|
NM_000053.4(ATP7B):c.1172C>T (p.Ser391Leu)
|
rs750724856
|
0.00004
|
|
NM_000053.4(ATP7B):c.1605G>A (p.Glu535=)
|
rs762567255
|
0.00004
|
|
NM_000053.4(ATP7B):c.2301C>T (p.Pro767=)
|
rs770787421
|
0.00004
|
|
NM_000053.4(ATP7B):c.2763T>C (p.Ser921=)
|
rs1052485948
|
0.00004
|
|
NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=)
|
rs200597654
|
0.00004
|
|
NM_000053.4(ATP7B):c.4215C>T (p.Gly1405=)
|
rs767721448
|
0.00004
|
|
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys)
|
rs55880859
|
0.00004
|
|
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu)
|
rs201427280
|
0.00004
|
|
NM_000057.4(BLM):c.3556A>G (p.Lys1186Glu)
|
rs750532596
|
0.00004
|
|
NM_000057.4(BLM):c.722G>A (p.Gly241Asp)
|
rs200897029
|
0.00004
|
|
NM_000059.4(BRCA2):c.-41G>A
|
rs879255312
|
0.00004
|
|
NM_000059.4(BRCA2):c.10222A>T (p.Lys3408Ter)
|
rs80358402
|
0.00004
|
|
NM_000059.4(BRCA2):c.1070A>C (p.Glu357Ala)
|
rs587781399
|
0.00004
|
|
NM_000059.4(BRCA2):c.1181A>C (p.Glu394Ala)
|
rs56016241
|
0.00004
|
|
NM_000059.4(BRCA2):c.136C>T (p.Pro46Ser)
|
rs80358425
|
0.00004
|
|
NM_000059.4(BRCA2):c.1762A>G (p.Asn588Asp)
|
rs398122731
|
0.00004
|
|
NM_000059.4(BRCA2):c.267G>A (p.Pro89=)
|
rs587780648
|
0.00004
|
|
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser)
|
rs80358531
|
0.00004
|
|
NM_000059.4(BRCA2):c.2848G>A (p.Val950Ile)
|
rs775903570
|
0.00004
|
|
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg)
|
rs80358545
|
0.00004
|
|
NM_000059.4(BRCA2):c.3032C>G (p.Thr1011Arg)
|
rs80358548
|
0.00004
|
|
NM_000059.4(BRCA2):c.3167A>G (p.Gln1056Arg)
|
rs431825301
|
0.00004
|
|
NM_000059.4(BRCA2):c.352C>T (p.Arg118Cys)
|
rs375125172
|
0.00004
|
|
NM_000059.4(BRCA2):c.3749A>G (p.Glu1250Gly)
|
rs56400215
|
0.00004
|
|
NM_000059.4(BRCA2):c.3840T>C (p.Asp1280=)
|
rs786201327
|
0.00004
|
|
NM_000059.4(BRCA2):c.4094G>A (p.Cys1365Tyr)
|
rs80358657
|
0.00004
|
|
NM_000059.4(BRCA2):c.4531G>A (p.Glu1511Lys)
|
rs376338226
|
0.00004
|
|
NM_000059.4(BRCA2):c.4570T>G (p.Phe1524Val)
|
rs56386506
|
0.00004
|
|
NM_000059.4(BRCA2):c.4873G>A (p.Glu1625Lys)
|
rs587782754
|
0.00004
|
|
NM_000059.4(BRCA2):c.4898T>C (p.Ile1633Thr)
|
rs80358714
|
0.00004
|
|
NM_000059.4(BRCA2):c.5319G>A (p.Glu1773=)
|
rs376257217
|
0.00004
|
|
NM_000059.4(BRCA2):c.5626G>A (p.Glu1876Lys)
|
rs397507793
|
0.00004
|
|
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr)
|
rs80358803
|
0.00004
|
|
NM_000059.4(BRCA2):c.5869A>G (p.Ile1957Val)
|
rs80358817
|
0.00004
|
|
NM_000059.4(BRCA2):c.5927G>T (p.Gly1976Val)
|
rs587782751
|
0.00004
|
|
NM_000059.4(BRCA2):c.5969A>C (p.Asp1990Ala)
|
rs148618542
|
0.00004
|
|
NM_000059.4(BRCA2):c.6058G>A (p.Glu2020Lys)
|
rs80358842
|
0.00004
|
|
NM_000059.4(BRCA2):c.6143A>T (p.Asn2048Ile)
|
rs80358853
|
0.00004
|
|
NM_000059.4(BRCA2):c.6196G>A (p.Val2066Ile)
|
rs397507365
|
0.00004
|
|
NM_000059.4(BRCA2):c.623T>G (p.Val208Gly)
|
rs80358865
|
0.00004
|
|
NM_000059.4(BRCA2):c.6290C>T (p.Thr2097Met)
|
rs80358866
|
0.00004
|
|
NM_000059.4(BRCA2):c.6295A>G (p.Arg2099Gly)
|
rs398122551
|
0.00004
|
|
NM_000059.4(BRCA2):c.62A>G (p.Lys21Arg)
|
rs397507367
|
0.00004
|
|
NM_000059.4(BRCA2):c.6633T>C (p.Val2211=)
|
rs80359795
|
0.00004
|
|
NM_000059.4(BRCA2):c.6739A>G (p.Ser2247Gly)
|
rs80358896
|
0.00004
|
|
NM_000059.4(BRCA2):c.7010C>T (p.Thr2337Ile)
|
rs80358927
|
0.00004
|
|
NM_000059.4(BRCA2):c.7102T>G (p.Leu2368Val)
|
rs397507382
|
0.00004
|
|
NM_000059.4(BRCA2):c.7505G>A (p.Arg2502His)
|
rs56070345
|
0.00004
|
|
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser)
|
rs80358978
|
0.00004
|
|
NM_000059.4(BRCA2):c.8036A>G (p.Asp2679Gly)
|
rs80359041
|
0.00004
|
|
NM_000059.4(BRCA2):c.8113A>G (p.Ser2705Gly)
|
rs756105620
|
0.00004
|
|
NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu)
|
rs55763607
|
0.00004
|
|
NM_000059.4(BRCA2):c.8702G>A (p.Gly2901Asp)
|
rs80359129
|
0.00004
|
|
NM_000059.4(BRCA2):c.8723T>G (p.Val2908Gly)
|
rs28897753
|
0.00004
|
|
NM_000059.4(BRCA2):c.8755-19A>G
|
rs398122713
|
0.00004
|
|
NM_000059.4(BRCA2):c.887A>G (p.Tyr296Cys)
|
rs45457795
|
0.00004
|
|
NM_000059.4(BRCA2):c.8918G>A (p.Arg2973His)
|
rs80359143
|
0.00004
|
|
NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu)
|
rs80359228
|
0.00004
|
|
NM_000059.4(BRCA2):c.9648+10T>G
|
rs81002835
|
0.00004
|
|
NM_000059.4(BRCA2):c.9677A>G (p.Tyr3226Cys)
|
rs80359237
|
0.00004
|
|
NM_000062.3(SERPING1):c.117C>G (p.Asp39Glu)
|
rs11229062
|
0.00004
|
|
NM_000062.3(SERPING1):c.826C>T (p.Arg276Trp)
|
rs768520560
|
0.00004
|
|
NM_000064.4(C3):c.4803C>T (p.His1601=)
|
rs762332809
|
0.00004
|
|
NM_000069.3(CACNA1S):c.1492C>T (p.Arg498Cys)
|
rs532351874
|
0.00004
|
|
NM_000069.3(CACNA1S):c.2380C>T (p.Arg794Cys)
|
rs373328930
|
0.00004
|
|
NM_000069.3(CACNA1S):c.2453C>T (p.Ala818Val)
|
rs372668776
|
0.00004
|
|
NM_000069.3(CACNA1S):c.2632G>A (p.Val878Met)
|
rs202131129
|
0.00004
|
|
NM_000069.3(CACNA1S):c.3091G>A (p.Val1031Met)
|
rs777328046
|
0.00004
|
|
NM_000069.3(CACNA1S):c.3746G>A (p.Arg1249Gln)
|
rs775009783
|
0.00004
|
|
NM_000069.3(CACNA1S):c.4415G>A (p.Arg1472His)
|
rs201463541
|
0.00004
|
|
NM_000069.3(CACNA1S):c.454A>G (p.Met152Val)
|
rs369332959
|
0.00004
|
|
NM_000069.3(CACNA1S):c.4690G>A (p.Glu1564Lys)
|
rs368421264
|
0.00004
|
|
NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe)
|
rs200848930
|
0.00004
|
|
NM_000069.3(CACNA1S):c.490C>T (p.Leu164Phe)
|
rs747238231
|
0.00004
|
|
NM_000069.3(CACNA1S):c.598G>A (p.Ala200Thr)
|
rs527702358
|
0.00004
|
|
NM_000069.3(CACNA1S):c.619G>A (p.Val207Ile)
|
rs767571919
|
0.00004
|
|
NM_000069.3(CACNA1S):c.784C>T (p.Arg262Trp)
|
rs186538122
|
0.00004
|
|
NM_000070.3(CAPN3):c.1557C>T (p.His519=)
|
rs368385372
|
0.00004
|
|
NM_000070.3(CAPN3):c.183C>T (p.Phe61=)
|
rs146069933
|
0.00004
|
|
NM_000070.3(CAPN3):c.2040C>T (p.Val680=)
|
rs200583904
|
0.00004
|
|
NM_000071.3(CBS):c.1281G>A (p.Pro427=)
|
rs563330591
|
0.00004
|
|
NM_000071.3(CBS):c.1512G>A (p.Glu504=)
|
rs149170219
|
0.00004
|
|
NM_000077.5(CDKN2A):c.197A>G (p.His66Arg)
|
rs756750256
|
0.00004
|
|
NM_000079.4(CHRNA1):c.111C>T (p.Ser37=)
|
rs886055151
|
0.00004
|
|
NM_000080.4(CHRNE):c.1071G>A (p.Pro357=)
|
rs772143528
|
0.00004
|
|
NM_000080.4(CHRNE):c.1374C>T (p.Cys458=)
|
rs201030784
|
0.00004
|
|
NM_000081.4(LYST):c.4705A>C (p.Asn1569His)
|
rs767687843
|
0.00004
|
|
NM_000082.4(ERCC8):c.510T>C (p.Leu170=)
|
rs886042104
|
0.00004
|
|
NM_000083.3(CLCN1):c.412G>A (p.Val138Ile)
|
rs762344462
|
0.00004
|
|
NM_000088.4(COL1A1):c.1930-5T>C
|
rs762377921
|
0.00004
|
|
NM_000088.4(COL1A1):c.299-9G>T
|
rs373041336
|
0.00004
|
|
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His)
|
rs781491172
|
0.00004
|
|
NM_000089.4(COL1A2):c.1148C>A (p.Pro383His)
|
rs193922159
|
0.00004
|
|
NM_000089.4(COL1A2):c.3209A>C (p.His1070Pro)
|
rs767399660
|
0.00004
|
|
NM_000090.4(COL3A1):c.2489C>T (p.Pro830Leu)
|
rs886038849
|
0.00004
|
|
NM_000091.5(COL4A3):c.1039T>A (p.Tyr347Asn)
|
rs765336013
|
0.00004
|
|
NM_000091.5(COL4A3):c.2282G>A (p.Arg761Lys)
|
rs747356302
|
0.00004
|
|
NM_000091.5(COL4A3):c.672A>G (p.Gly224=)
|
rs375059614
|
0.00004
|
|
NM_000091.5(COL4A3):c.934-6C>A
|
rs369438839
|
0.00004
|
|
NM_000092.5(COL4A4):c.90C>T (p.Leu30=)
|
rs747805491
|
0.00004
|
|
NM_000093.5(COL5A1):c.1292G>A (p.Gly431Glu)
|
rs370311038
|
0.00004
|
|
NM_000094.4(COL7A1):c.1167G>A (p.Thr389=)
|
rs377732069
|
0.00004
|
|
NM_000094.4(COL7A1):c.1324C>T (p.Arg442Cys)
|
rs142108058
|
0.00004
|
|
NM_000094.4(COL7A1):c.3411C>T (p.Ala1137=)
|
rs548139799
|
0.00004
|
|
NM_000094.4(COL7A1):c.3917G>A (p.Arg1306His)
|
rs558424479
|
0.00004
|
|
NM_000094.4(COL7A1):c.4024C>T (p.Pro1342Ser)
|
rs200290149
|
0.00004
|
|
NM_000094.4(COL7A1):c.4445G>A (p.Arg1482Gln)
|
rs570707807
|
0.00004
|
|
NM_000094.4(COL7A1):c.4704C>T (p.Thr1568=)
|
rs573530168
|
0.00004
|
|
NM_000094.4(COL7A1):c.5132C>T (p.Thr1711Ile)
|
rs771521596
|
0.00004
|
|
NM_000094.4(COL7A1):c.5736+9G>A
|
rs777097228
|
0.00004
|
|
NM_000094.4(COL7A1):c.5929C>T (p.Arg1977Cys)
|
rs765130674
|
0.00004
|
|
NM_000098.3(CPT2):c.1645+15G>T
|
rs753344588
|
0.00004
|
|
NM_000098.3(CPT2):c.721A>G (p.Arg241Gly)
|
rs200252755
|
0.00004
|
|
NM_000117.3(EMD):c.171C>T (p.Ser57=)
|
rs900267221
|
0.00004
|
|
NM_000124.4(ERCC6):c.2212A>C (p.Ile738Leu)
|
rs373277796
|
0.00004
|
|
NM_000124.4(ERCC6):c.352C>T (p.His118Tyr)
|
rs377708438
|
0.00004
|
|
NM_000127.3(EXT1):c.1743G>A (p.Val581=)
|
rs375284779
|
0.00004
|
|
NM_000128.4(F11):c.56-6T>C
|
rs374122923
|
0.00004
|
|
NM_000130.5(F5):c.586+11C>A
|
rs199638362
|
0.00004
|
|
NM_000133.4(F9):c.582T>G (p.Thr194=)
|
rs754155651
|
0.00004
|
|
NM_000135.4(FANCA):c.1510C>T (p.Arg504Cys)
|
rs200291237
|
0.00004
|
|
NM_000135.4(FANCA):c.1777-15C>G
|
rs371919426
|
0.00004
|
|
NM_000135.4(FANCA):c.189+7G>A
|
rs369985388
|
0.00004
|
|
NM_000135.4(FANCA):c.2009G>A (p.Arg670His)
|
rs537923341
|
0.00004
|
|
NM_000135.4(FANCA):c.23A>G (p.Asn8Ser)
|
rs757468756
|
0.00004
|
|
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser)
|
rs370085403
|
0.00004
|
|
NM_000135.4(FANCA):c.2982-8C>G
|
rs781331325
|
0.00004
|
|
NM_000135.4(FANCA):c.3032G>A (p.Arg1011His)
|
rs200022826
|
0.00004
|
|
NM_000135.4(FANCA):c.3476G>C (p.Cys1159Ser)
|
rs762837582
|
0.00004
|
|
NM_000135.4(FANCA):c.4133C>T (p.Pro1378Leu)
|
rs760814763
|
0.00004
|
|
NM_000135.4(FANCA):c.793-9T>C
|
rs757500718
|
0.00004
|
|
NM_000135.4(FANCA):c.944C>G (p.Pro315Arg)
|
rs764121307
|
0.00004
|
|
NM_000136.3(FANCC):c.*7C>T
|
rs372511678
|
0.00004
|
|
NM_000136.3(FANCC):c.1604G>A (p.Arg535His)
|
rs587779902
|
0.00004
|
|
NM_000137.4(FAH):c.81+8G>A
|
rs188046704
|
0.00004
|
|
NM_000138.5(FBN1):c.1602T>C (p.Cys534=)
|
rs377386372
|
0.00004
|
|
NM_000138.5(FBN1):c.1837+4C>T
|
rs199950267
|
0.00004
|
|
NM_000138.5(FBN1):c.1880G>A (p.Arg627His)
|
rs746073643
|
0.00004
|
|
NM_000138.5(FBN1):c.1884C>T (p.Cys628=)
|
rs150421653
|
0.00004
|
|
NM_000138.5(FBN1):c.2075T>A (p.Phe692Tyr)
|
rs955639059
|
0.00004
|
|
NM_000138.5(FBN1):c.2419+13T>A
|
rs372885314
|
0.00004
|
|
NM_000138.5(FBN1):c.2600A>G (p.Asn867Ser)
|
rs145464311
|
0.00004
|
|
NM_000138.5(FBN1):c.3295G>A (p.Glu1099Lys)
|
rs763485521
|
0.00004
|
|
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser)
|
rs776667707
|
0.00004
|
|
NM_000138.5(FBN1):c.3837A>G (p.Val1279=)
|
rs59007872
|
0.00004
|
|
NM_000138.5(FBN1):c.4095C>T (p.Asp1365=)
|
rs375402043
|
0.00004
|
|
NM_000138.5(FBN1):c.4163G>A (p.Arg1388His)
|
rs749196340
|
0.00004
|
|
NM_000138.5(FBN1):c.538+4A>G
|
rs375721252
|
0.00004
|
|
NM_000138.5(FBN1):c.5717G>A (p.Arg1906Gln)
|
rs774798866
|
0.00004
|
|
NM_000138.5(FBN1):c.5724A>G (p.Thr1908=)
|
rs141219664
|
0.00004
|
|
NM_000138.5(FBN1):c.5842A>G (p.Ile1948Val)
|
rs766850261
|
0.00004
|
|
NM_000138.5(FBN1):c.5921T>C (p.Ile1974Thr)
|
rs765878996
|
0.00004
|
|
NM_000138.5(FBN1):c.6052G>A (p.Val2018Ile)
|
rs363802
|
0.00004
|
|
NM_000138.5(FBN1):c.6055G>A (p.Glu2019Lys)
|
rs377149130
|
0.00004
|
|
NM_000138.5(FBN1):c.7210G>A (p.Asp2404Asn)
|
rs530059069
|
0.00004
|
|
NM_000138.5(FBN1):c.7700-13G>C
|
rs775509707
|
0.00004
|
|
NM_000138.5(FBN1):c.8299A>G (p.Asn2767Asp)
|
rs771437236
|
0.00004
|
|
NM_000142.5(FGFR3):c.1752G>A (p.Pro584=)
|
rs139020690
|
0.00004
|
|
NM_000142.5(FGFR3):c.2028C>T (p.Asp676=)
|
rs754598297
|
0.00004
|
|
NM_000142.5(FGFR3):c.940G>A (p.Ala314Thr)
|
rs748488719
|
0.00004
|
|
NM_000142.5(FGFR3):c.985G>A (p.Val329Ile)
|
rs188723332
|
0.00004
|
|
NM_000143.4(FH):c.-3A>G
|
rs202145941
|
0.00004
|
|
NM_000143.4(FH):c.1421C>G (p.Thr474Arg)
|
rs369802820
|
0.00004
|
|
NM_000143.4(FH):c.302G>A (p.Arg101Gln)
|
rs75086406
|
0.00004
|
|
NM_000151.4(G6PC1):c.447G>A (p.Arg149=)
|
rs549712764
|
0.00004
|
|
NM_000152.5(GAA):c.1245G>A (p.Thr415=)
|
rs760920034
|
0.00004
|
|
NM_000152.5(GAA):c.138C>T (p.Ser46=)
|
rs753375900
|
0.00004
|
|
NM_000152.5(GAA):c.1416C>T (p.Thr472=)
|
rs368492669
|
0.00004
|
|
NM_000152.5(GAA):c.1629C>T (p.Tyr543=)
|
rs372193105
|
0.00004
|
|
NM_000152.5(GAA):c.2151C>T (p.His717=)
|
rs758725073
|
0.00004
|
|
NM_000152.5(GAA):c.2671C>T (p.Arg891Cys)
|
rs377249041
|
0.00004
|
|
NM_000152.5(GAA):c.861C>T (p.Pro287=)
|
rs778580823
|
0.00004
|
|
NM_000152.5(GAA):c.912C>T (p.Gly304=)
|
rs368741815
|
0.00004
|
|
NM_000153.4(GALC):c.28T>C (p.Trp10Arg)
|
rs767913083
|
0.00004
|
|
NM_000155.4(GALT):c.270T>C (p.Asp90=)
|
rs1300102277
|
0.00004
|
|
NM_000158.4(GBE1):c.1932G>A (p.Gly644=)
|
rs544906178
|
0.00004
|
|
NM_000159.4(GCDH):c.945C>T (p.Tyr315=)
|
rs138133019
|
0.00004
|
|
NM_000162.5(GCK):c.363+6C>A
|
rs751756042
|
0.00004
|
|
NM_000166.6(GJB1):c.637A>G (p.Ile213Val)
|
rs753503984
|
0.00004
|
|
NM_000166.6(GJB1):c.677A>G (p.Asn226Ser)
|
rs781312706
|
0.00004
|
|
NM_000168.6(GLI3):c.3611C>G (p.Pro1204Arg)
|
rs543636524
|
0.00004
|
|
NM_000169.3(GLA):c.1261A>G (p.Met421Val)
|
rs144060196
|
0.00004
|
|
NM_000170.3(GLDC):c.1483-15G>C
|
rs371777070
|
0.00004
|
|
NM_000170.3(GLDC):c.150G>A (p.Ser50=)
|
rs768354829
|
0.00004
|
|
NM_000170.3(GLDC):c.1626A>G (p.Glu542=)
|
rs779537709
|
0.00004
|
|
NM_000170.3(GLDC):c.489A>G (p.Pro163=)
|
rs770044310
|
0.00004
|
|
NM_000179.3(MSH6):c.107C>T (p.Ala36Val)
|
rs61756469
|
0.00004
|
|
NM_000179.3(MSH6):c.1144C>T (p.His382Tyr)
|
rs587779207
|
0.00004
|
|
NM_000179.3(MSH6):c.1364A>C (p.Asn455Thr)
|
rs200938360
|
0.00004
|
|
NM_000179.3(MSH6):c.1937A>G (p.Lys646Arg)
|
rs201096652
|
0.00004
|
|
NM_000179.3(MSH6):c.1974G>A (p.Val658=)
|
rs372916347
|
0.00004
|
|
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly)
|
rs63751450
|
0.00004
|
|
NM_000179.3(MSH6):c.2418C>T (p.Ser806=)
|
rs770992427
|
0.00004
|
|
NM_000179.3(MSH6):c.242C>T (p.Ala81Val)
|
rs587779924
|
0.00004
|
|
NM_000179.3(MSH6):c.2597A>C (p.Lys866Thr)
|
rs190075874
|
0.00004
|
|
NM_000179.3(MSH6):c.2974G>A (p.Glu992Lys)
|
rs774755404
|
0.00004
|
|
NM_000179.3(MSH6):c.3801+5G>A
|
rs201080919
|
0.00004
|
|
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala)
|
rs564434147
|
0.00004
|
|
NM_000179.3(MSH6):c.749T>C (p.Val250Ala)
|
rs587781275
|
0.00004
|
|
NM_000181.4(GUSB):c.324G>A (p.Pro108=)
|
rs546131174
|
0.00004
|
|
NM_000183.3(HADHB):c.64+15A>T
|
rs1018820638
|
0.00004
|
|
NM_000186.4(CFH):c.2596+8G>T
|
rs375176505
|
0.00004
|
|
NM_000186.4(CFH):c.907C>T (p.Arg303Trp)
|
rs142937931
|
0.00004
|
|
NM_000187.4(HGD):c.177-5T>C
|
rs768308376
|
0.00004
|
|
NM_000190.4(HMBS):c.925C>T (p.Pro309Ser)
|
rs746707121
|
0.00004
|
|
NM_000199.5(SGSH):c.1134C>T (p.Ser378=)
|
rs771257931
|
0.00004
|
|
NM_000199.5(SGSH):c.792C>T (p.Asn264=)
|
rs147962306
|
0.00004
|
|
NM_000199.5(SGSH):c.89-10C>T
|
rs766929408
|
0.00004
|
|
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly)
|
rs202191662
|
0.00004
|
|
NM_000203.5(IDUA):c.1482C>G (p.Val494=)
|
rs999890083
|
0.00004
|
|
NM_000203.5(IDUA):c.30G>A (p.Leu10=)
|
rs549738466
|
0.00004
|
|
NM_000203.5(IDUA):c.957G>C (p.Ala319=)
|
rs748350723
|
0.00004
|
|
NM_000206.3(IL2RG):c.1105A>G (p.Thr369Ala)
|
rs374270413
|
0.00004
|
|
NM_000212.3(ITGB3):c.2331G>A (p.Thr777=)
|
rs566831897
|
0.00004
|
|
NM_000213.5(ITGB4):c.3221G>A (p.Arg1074His)
|
rs147026529
|
0.00004
|
|
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val)
|
rs149366993
|
0.00004
|
|
NM_000214.3(JAG1):c.2304C>T (p.Cys768=)
|
rs755427292
|
0.00004
|
|
NM_000214.3(JAG1):c.2590A>G (p.Ile864Val)
|
rs142742183
|
0.00004
|
|
NM_000214.3(JAG1):c.3651C>T (p.Ile1217=)
|
rs542831744
|
0.00004
|
|
NM_000214.3(JAG1):c.439+9C>T
|
rs374350782
|
0.00004
|
|
NM_000215.4(JAK3):c.2254C>T (p.Leu752=)
|
rs200123352
|
0.00004
|
|
NM_000215.4(JAK3):c.2350+7G>A
|
rs200658439
|
0.00004
|
|
NM_000215.4(JAK3):c.2535C>T (p.Gly845=)
|
rs200746503
|
0.00004
|
|
NM_000215.4(JAK3):c.2772C>T (p.Ser924=)
|
rs199939250
|
0.00004
|
|
NM_000218.3(KCNQ1):c.1945G>A (p.Asp649Asn)
|
rs781333509
|
0.00004
|
|
NM_000222.3(KIT):c.2802+9A>G
|
rs369450271
|
0.00004
|
|
NM_000235.4(LIPA):c.714G>A (p.Ala238=)
|
rs139282720
|
0.00004
|
|
NM_000235.4(LIPA):c.967-13C>A
|
rs762226885
|
0.00004
|
|
NM_000236.3(LIPC):c.1203C>T (p.Ser401=)
|
rs768982423
|
0.00004
|
|
NM_000238.4(KCNH2):c.1128+1869C>T
|
rs62492438
|
0.00004
|
|
NM_000238.4(KCNH2):c.1128+1884G>A
|
rs765679790
|
0.00004
|
|
NM_000238.4(KCNH2):c.2398+156G>A
|
rs139247073
|
0.00004
|
|
NM_000238.4(KCNH2):c.2665T>G (p.Leu889Val)
|
rs765427343
|
0.00004
|
|
NM_000238.4(KCNH2):c.2793G>A (p.Pro931=)
|
rs200976506
|
0.00004
|
|
NM_000238.4(KCNH2):c.3097C>T (p.Arg1033Trp)
|
rs199473021
|
0.00004
|
|
NM_000238.4(KCNH2):c.3164G>A (p.Arg1055Gln)
|
rs41307270
|
0.00004
|
|
NM_000239.3(LYZ):c.156G>A (p.Trp52Ter)
|
rs764263034
|
0.00004
|
|
NM_000243.3(MEFV):c.1527C>T (p.Leu509=)
|
rs571832030
|
0.00004
|
|
NM_000243.3(MEFV):c.1532C>T (p.Ala511Val)
|
rs144270019
|
0.00004
|
|
NM_000243.3(MEFV):c.1587+7G>A
|
rs375555497
|
0.00004
|
|
NM_000243.3(MEFV):c.2109C>T (p.Ser703=)
|
rs104895118
|
0.00004
|
|
NM_000243.3(MEFV):c.775A>G (p.Ile259Val)
|
rs104895144
|
0.00004
|
|
NM_000245.4(MET):c.1132G>A (p.Val378Ile)
|
rs749738523
|
0.00004
|
|
NM_000245.4(MET):c.2103-4T>C
|
rs753740913
|
0.00004
|
|
NM_000246.4(CIITA):c.1834A>G (p.Thr612Ala)
|
rs142257962
|
0.00004
|
|
NM_000246.4(CIITA):c.2617T>C (p.Leu873=)
|
rs368233530
|
0.00004
|
|
NM_000246.4(CIITA):c.3012C>T (p.Val1004=)
|
rs751445508
|
0.00004
|
|
NM_000249.4(MLH1):c.1148T>C (p.Met383Thr)
|
rs141344760
|
0.00004
|
|
NM_000249.4(MLH1):c.1269G>A (p.Arg423=)
|
rs373076967
|
0.00004
|
|
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln)
|
rs63751630
|
0.00004
|
|
NM_000249.4(MLH1):c.1628A>G (p.His543Arg)
|
rs730881742
|
0.00004
|
|
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg)
|
rs140195825
|
0.00004
|
|
NM_000249.4(MLH1):c.347C>A (p.Thr116Lys)
|
rs63750465
|
0.00004
|
|
NM_000249.4(MLH1):c.52C>T (p.Arg18Cys)
|
rs367654552
|
0.00004
|
|
NM_000249.4(MLH1):c.794G>A (p.Arg265His)
|
rs63751448
|
0.00004
|
|
NM_000249.4(MLH1):c.808A>G (p.Thr270Ala)
|
rs371302926
|
0.00004
|
|
NM_000251.3(MSH2):c.1021C>G (p.Leu341Val)
|
rs748115066
|
0.00004
|
|
NM_000251.3(MSH2):c.1121A>G (p.Gln374Arg)
|
rs749660228
|
0.00004
|
|
NM_000251.3(MSH2):c.1530G>C (p.Gln510His)
|
rs587782355
|
0.00004
|
|
NM_000251.3(MSH2):c.1600C>T (p.Arg534Cys)
|
rs63750029
|
0.00004
|
|
NM_000251.3(MSH2):c.1601G>A (p.Arg534His)
|
rs587778523
|
0.00004
|
|
NM_000251.3(MSH2):c.1813G>T (p.Val605Phe)
|
rs730881777
|
0.00004
|
|
NM_000251.3(MSH2):c.183G>T (p.Gln61His)
|
rs751082926
|
0.00004
|
|
NM_000251.3(MSH2):c.2211-6C>A
|
rs267608003
|
0.00004
|
|
NM_000251.3(MSH2):c.2516A>G (p.His839Arg)
|
rs63750027
|
0.00004
|
|
NM_000251.3(MSH2):c.2580G>A (p.Ser860=)
|
rs752428475
|
0.00004
|
|
NM_000251.3(MSH2):c.336C>A (p.Ser112=)
|
rs34312619
|
0.00004
|
|
NM_000251.3(MSH2):c.607G>A (p.Gly203Arg)
|
rs587779973
|
0.00004
|
|
NM_000251.3(MSH2):c.958A>G (p.Thr320Ala)
|
rs368982417
|
0.00004
|
|
NM_000252.3(MTM1):c.1383A>G (p.Gln461=)
|
rs782410861
|
0.00004
|
|
NM_000254.3(MTR):c.1722T>C (p.Ser574=)
|
rs142857114
|
0.00004
|
|
NM_000256.3(MYBPC3):c.1056C>G (p.Leu352=)
|
rs375007425
|
0.00004
|
|
NM_000256.3(MYBPC3):c.1091C>T (p.Ala364Val)
|
rs778161908
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2149-8C>G
|
rs397515950
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2381C>T (p.Pro794Leu)
|
rs730880565
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met)
|
rs371061770
|
0.00004
|
|
NM_000256.3(MYBPC3):c.3581C>T (p.Ala1194Val)
|
rs730880594
|
0.00004
|
|
NM_000256.3(MYBPC3):c.799C>G (p.Leu267Val)
|
rs370941975
|
0.00004
|
|
NM_000256.3(MYBPC3):c.842G>A (p.Arg281Gln)
|
rs11570060
|
0.00004
|
|
NM_000257.4(MYH7):c.4158C>T (p.Leu1386=)
|
rs886050418
|
0.00004
|
|
NM_000258.3(MYL3):c.367A>G (p.Lys123Glu)
|
rs536445081
|
0.00004
|
|
NM_000260.4(MYO7A):c.160A>G (p.Thr54Ala)
|
rs369142107
|
0.00004
|
|
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His)
|
rs782607566
|
0.00004
|
|
NM_000260.4(MYO7A):c.3729G>A (p.Pro1243=)
|
rs727504023
|
0.00004
|
|
NM_000260.4(MYO7A):c.4018G>A (p.Ala1340Thr)
|
rs376291076
|
0.00004
|
|
NM_000260.4(MYO7A):c.548C>T (p.Ser183Leu)
|
rs781893704
|
0.00004
|
|
NM_000260.4(MYO7A):c.5943C>T (p.Asp1981=)
|
rs773907543
|
0.00004
|
|
NM_000260.4(MYO7A):c.61G>A (p.Asp21Asn)
|
rs782546306
|
0.00004
|
|
NM_000260.4(MYO7A):c.6426T>A (p.Asp2142Glu)
|
rs374575441
|
0.00004
|
|
NM_000262.3(NAGA):c.582C>T (p.Gly194=)
|
rs553977653
|
0.00004
|
|
NM_000264.5(PTCH1):c.1067+5G>C
|
rs372657547
|
0.00004
|
|
NM_000264.5(PTCH1):c.1664A>G (p.Asn555Ser)
|
rs181192122
|
0.00004
|
|
NM_000264.5(PTCH1):c.2635G>A (p.Asp879Asn)
|
rs750373573
|
0.00004
|
|
NM_000264.5(PTCH1):c.2866A>G (p.Met956Val)
|
rs587780699
|
0.00004
|
|
NM_000264.5(PTCH1):c.3422C>T (p.Ala1141Val)
|
rs376844749
|
0.00004
|
|
NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met)
|
rs187104739
|
0.00004
|
|
NM_000268.4(NF2):c.1619A>G (p.Asn540Ser)
|
rs774824164
|
0.00004
|
|
NM_000268.4(NF2):c.255T>C (p.Asp85=)
|
rs375802248
|
0.00004
|
|
NM_000268.4(NF2):c.325C>T (p.Leu109=)
|
rs201603384
|
0.00004
|
|
NM_000270.4(PNP):c.678C>T (p.Ile226=)
|
rs563086985
|
0.00004
|
|
NM_000271.5(NPC1):c.1947+12G>T
|
rs886053666
|
0.00004
|
|
NM_000271.5(NPC1):c.2514+15G>A
|
rs765825660
|
0.00004
|
|
NM_000271.5(NPC1):c.695A>G (p.Asp232Gly)
|
rs201956601
|
0.00004
|
|
NM_000277.3(PAH):c.1002C>T (p.Cys334=)
|
rs140243918
|
0.00004
|
|
NM_000277.3(PAH):c.1010G>A (p.Gly337Glu)
|
rs62517206
|
0.00004
|
|
NM_000277.3(PAH):c.420G>A (p.Ala140=)
|
rs200366386
|
0.00004
|
|
NM_000282.4(PCCA):c.819+9A>G
|
rs372739944
|
0.00004
|
|
NM_000282.4(PCCA):c.825A>G (p.Leu275=)
|
rs376560248
|
0.00004
|
|
NM_000288.4(PEX7):c.804-5C>T
|
rs369653173
|
0.00004
|
|
NM_000289.6(PFKM):c.1770C>T (p.Ala590=)
|
rs751097669
|
0.00004
|
|
NM_000289.6(PFKM):c.978G>A (p.Glu326=)
|
rs550083752
|
0.00004
|
|
NM_000293.3(PHKB):c.30A>C (p.Glu10Asp)
|
rs760502380
|
0.00004
|
|
NM_000295.5(SERPINA1):c.211A>C (p.Ser71Arg)
|
rs11575873
|
0.00004
|
|
NM_000302.4(PLOD1):c.1584+10G>A
|
rs756917169
|
0.00004
|
|
NM_000303.3(PMM2):c.639+10G>A
|
rs200593954
|
0.00004
|
|
NM_000308.4(CTSA):c.1164+7G>A
|
rs775198775
|
0.00004
|
|
NM_000310.4(PPT1):c.234+7C>T
|
rs200777536
|
0.00004
|
|
NM_000312.4(PROC):c.1065C>T (p.Asn355=)
|
rs548020208
|
0.00004
|
|
NM_000312.4(PROC):c.1272G>A (p.Glu424=)
|
rs770534863
|
0.00004
|
|
NM_000314.8(PTEN):c.*10T>A
|
rs769236743
|
0.00004
|
|
NM_000316.3(PTH1R):c.645G>T (p.Leu215=)
|
rs201490454
|
0.00004
|
|
NM_000321.3(RB1):c.1814+11T>C
|
rs771369373
|
0.00004
|
|
NM_000321.3(RB1):c.1887G>C (p.Glu629Asp)
|
rs367668687
|
0.00004
|
|
NM_000329.3(RPE65):c.1129-5C>T
|
rs368533067
|
0.00004
|
|
NM_000330.4(RS1):c.185-3221G>C
|
rs374054249
|
0.00004
|
|
NM_000334.4(SCN4A):c.2419G>A (p.Ala807Thr)
|
rs770694096
|
0.00004
|
|
NM_000334.4(SCN4A):c.4288+6C>T
|
rs148187651
|
0.00004
|
|
NM_000334.4(SCN4A):c.5205G>C (p.Gln1735His)
|
rs199944673
|
0.00004
|
|
NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=)
|
rs189230866
|
0.00004
|
|
NM_000335.5(SCN5A):c.103G>A (p.Gly35Ser)
|
rs199473552
|
0.00004
|
|
NM_000335.5(SCN5A):c.1914C>T (p.Gly638=)
|
rs764488677
|
0.00004
|
|
NM_000335.5(SCN5A):c.1915G>A (p.Gly639Arg)
|
rs199473136
|
0.00004
|
|
NM_000335.5(SCN5A):c.2102C>T (p.Pro701Leu)
|
rs199473147
|
0.00004
|
|
NM_000335.5(SCN5A):c.2259C>T (p.Asn753=)
|
rs878911306
|
0.00004
|
|
NM_000335.5(SCN5A):c.3080G>A (p.Arg1027Gln)
|
rs763891399
|
0.00004
|
|
NM_000335.5(SCN5A):c.3204C>T (p.Gly1068=)
|
rs1464663200
|
0.00004
|
|
NM_000335.5(SCN5A):c.3574C>T (p.Arg1192Trp)
|
rs192379242
|
0.00004
|
|
NM_000335.5(SCN5A):c.435C>T (p.Cys145=)
|
rs587781159
|
0.00004
|
|
NM_000335.5(SCN5A):c.43A>G (p.Arg15Gly)
|
rs752553088
|
0.00004
|
|
NM_000335.5(SCN5A):c.4467G>A (p.Glu1489=)
|
rs375026424
|
0.00004
|
|
NM_000335.5(SCN5A):c.53G>A (p.Arg18Gln)
|
rs41311087
|
0.00004
|
|
NM_000335.5(SCN5A):c.5792C>T (p.Ala1931Val)
|
rs371194826
|
0.00004
|
|
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val)
|
rs199473561
|
0.00004
|
|
NM_000337.6(SGCD):c.756G>A (p.Thr252=)
|
rs756467431
|
0.00004
|
|
NM_000338.3(SLC12A1):c.2262C>T (p.Asp754=)
|
rs372953090
|
0.00004
|
|
NM_000338.3(SLC12A1):c.2278G>A (p.Val760Ile)
|
rs763036680
|
0.00004
|
|
NM_000340.2(SLC2A2):c.612+10C>A
|
rs762632420
|
0.00004
|
|
NM_000341.4(SLC3A1):c.1125C>T (p.Pro375=)
|
rs760943092
|
0.00004
|
|
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln)
|
rs121912757
|
0.00004
|
|
NM_000343.4(SLC5A1):c.813G>A (p.Thr271=)
|
rs200849778
|
0.00004
|
|
NM_000346.4(SOX9):c.918G>A (p.Val306=)
|
rs367966473
|
0.00004
|
|
NM_000350.3(ABCA4):c.1699G>A (p.Val567Met)
|
rs74516571
|
0.00004
|
|
NM_000350.3(ABCA4):c.2487G>A (p.Thr829=)
|
rs770089512
|
0.00004
|
|
NM_000350.3(ABCA4):c.3539C>T (p.Ser1180Leu)
|
rs267598773
|
0.00004
|
|
NM_000350.3(ABCA4):c.4128+12G>A
|
rs746262766
|
0.00004
|
|
NM_000350.3(ABCA4):c.5406C>T (p.Ile1802=)
|
rs202199507
|
0.00004
|
|
NM_000350.3(ABCA4):c.5712A>G (p.Gln1904=)
|
rs191506332
|
0.00004
|
|
NM_000350.3(ABCA4):c.575C>T (p.Ala192Val)
|
rs185729337
|
0.00004
|
|
NM_000352.6(ABCC8):c.1536C>T (p.Tyr512=)
|
rs765090096
|
0.00004
|
|
NM_000352.6(ABCC8):c.1924-10C>T
|
rs200823913
|
0.00004
|
|
NM_000352.6(ABCC8):c.2500C>T (p.Arg834Cys)
|
rs140068774
|
0.00004
|
|
NM_000352.6(ABCC8):c.3463G>A (p.Val1155Ile)
|
rs759961510
|
0.00004
|
|
NM_000352.6(ABCC8):c.3558-7G>A
|
rs900191703
|
0.00004
|
|
NM_000352.6(ABCC8):c.942C>T (p.Phe314=)
|
rs768582290
|
0.00004
|
|
NM_000360.4(TH):c.1317C>T (p.Asp439=)
|
rs375440221
|
0.00004
|
|
NM_000360.4(TH):c.1470C>G (p.Ala490=)
|
rs777477661
|
0.00004
|
|
NM_000363.5(TNNI3):c.372+7C>T
|
rs367809676
|
0.00004
|
|
NM_000368.5(TSC1):c.110G>A (p.Arg37His)
|
rs750441497
|
0.00004
|
|
NM_000368.5(TSC1):c.1332A>G (p.Ser444=)
|
rs773003016
|
0.00004
|
|
NM_000368.5(TSC1):c.2922C>T (p.Leu974=)
|
rs769389702
|
0.00004
|
|
NM_000372.5(TYR):c.759A>T (p.Gly253=)
|
rs200936835
|
0.00004
|
|
NM_000377.3(WAS):c.1150C>T (p.Pro384Ser)
|
rs782761074
|
0.00004
|
|
NM_000383.4(AIRE):c.1398C>T (p.Pro466=)
|
rs1402673356
|
0.00004
|
|
NM_000383.4(AIRE):c.351C>T (p.Ala117=)
|
rs201929488
|
0.00004
|
|
NM_000384.3(APOB):c.10276G>A (p.Ala3426Thr)
|
rs753767897
|
0.00004
|
|
NM_000384.3(APOB):c.11303T>C (p.Ile3768Thr)
|
rs376825639
|
0.00004
|
|
NM_000384.3(APOB):c.11503A>C (p.Ile3835Leu)
|
rs776119459
|
0.00004
|
|
NM_000384.3(APOB):c.11840G>A (p.Gly3947Glu)
|
rs770531319
|
0.00004
|
|
NM_000384.3(APOB):c.12136C>T (p.Arg4046Trp)
|
rs200222843
|
0.00004
|
|
NM_000384.3(APOB):c.12536C>T (p.Thr4179Ile)
|
rs370180297
|
0.00004
|
|
NM_000384.3(APOB):c.12695A>G (p.Tyr4232Cys)
|
rs767269509
|
0.00004
|
|
NM_000384.3(APOB):c.1400C>G (p.Ala467Gly)
|
rs376602710
|
0.00004
|
|
NM_000384.3(APOB):c.1753C>A (p.Gln585Lys)
|
rs140101603
|
0.00004
|
|
NM_000384.3(APOB):c.1910A>G (p.Tyr637Cys)
|
rs766573431
|
0.00004
|
|
NM_000384.3(APOB):c.1951G>C (p.Ala651Pro)
|
rs377179209
|
0.00004
|
|
NM_000384.3(APOB):c.3904T>C (p.Phe1302Leu)
|
rs201926213
|
0.00004
|
|
NM_000384.3(APOB):c.4298C>T (p.Ser1433Leu)
|
rs200708197
|
0.00004
|
|
NM_000384.3(APOB):c.4441G>A (p.Val1481Ile)
|
rs748985164
|
0.00004
|
|
NM_000384.3(APOB):c.6100A>G (p.Ile2034Val)
|
rs200339216
|
0.00004
|
|
NM_000384.3(APOB):c.6283G>A (p.Val2095Ile)
|
rs200874264
|
0.00004
|
|
NM_000384.3(APOB):c.6875T>C (p.Ile2292Thr)
|
rs145977507
|
0.00004
|
|
NM_000384.3(APOB):c.8635A>T (p.Asn2879Tyr)
|
rs200367807
|
0.00004
|
|
NM_000388.4(CASR):c.60C>T (p.Tyr20=)
|
rs201564143
|
0.00004
|
|
NM_000392.5(ABCC2):c.213C>T (p.Phe71=)
|
rs770824435
|
0.00004
|
|
NM_000392.5(ABCC2):c.3591C>G (p.Val1197=)
|
rs774159224
|
0.00004
|
|
NM_000399.5(EGR2):c.832G>A (p.Ala278Thr)
|
rs565355765
|
0.00004
|
|
NM_000400.4(ERCC2):c.1585G>A (p.Ala529Thr)
|
rs370819591
|
0.00004
|
|
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=)
|
rs200347945
|
0.00004
|
|
NM_000419.5(ITGA2B):c.1383C>T (p.Asn461=)
|
rs367831764
|
0.00004
|
|
NM_000419.5(ITGA2B):c.858C>T (p.Val286=)
|
rs376672078
|
0.00004
|
|
NM_000426.4(LAMA2):c.5469C>T (p.Ser1823=)
|
rs753886576
|
0.00004
|
|
NM_000426.4(LAMA2):c.6539A>T (p.Asp2180Val)
|
rs567385461
|
0.00004
|
|
NM_000426.4(LAMA2):c.7058G>A (p.Arg2353His)
|
rs548483084
|
0.00004
|
|
NM_000426.4(LAMA2):c.8497G>T (p.Asp2833Tyr)
|
rs794727815
|
0.00004
|
|
NM_000426.4(LAMA2):c.9212-11G>A
|
rs770088527
|
0.00004
|
|
NM_000428.3(LTBP2):c.2119A>C (p.Ser707Arg)
|
rs145201197
|
0.00004
|
|
NM_000428.3(LTBP2):c.3883A>G (p.Met1295Val)
|
rs776746432
|
0.00004
|
|
NM_000433.4(NCF2):c.636C>T (p.Asp212=)
|
rs774027102
|
0.00004
|
|
NM_000435.3(NOTCH3):c.1678G>A (p.Val560Met)
|
rs200160665
|
0.00004
|
|
NM_000435.3(NOTCH3):c.1729A>G (p.Thr577Ala)
|
rs368181126
|
0.00004
|
|
NM_000435.3(NOTCH3):c.1873G>A (p.Ala625Thr)
|
rs747633377
|
0.00004
|
|
NM_000435.3(NOTCH3):c.3566T>C (p.Phe1189Ser)
|
rs764617561
|
0.00004
|
|
NM_000435.3(NOTCH3):c.488G>A (p.Arg163Gln)
|
rs761209241
|
0.00004
|
|
NM_000435.3(NOTCH3):c.6092G>A (p.Arg2031His)
|
rs779314594
|
0.00004
|
|
NM_000435.3(NOTCH3):c.6437C>T (p.Ala2146Val)
|
rs770739669
|
0.00004
|
|
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg)
|
rs756969021
|
0.00004
|
|
NM_000443.4(ABCB4):c.1356+10A>G
|
rs374723850
|
0.00004
|
|
NM_000452.3(SLC10A2):c.846G>A (p.Glu282=)
|
rs746750365
|
0.00004
|
|
NM_000455.5(STK11):c.1045G>A (p.Glu349Lys)
|
rs553752236
|
0.00004
|
|
NM_000455.5(STK11):c.1088C>T (p.Thr363Ile)
|
rs587778695
|
0.00004
|
|
NM_000455.5(STK11):c.1109-3C>T
|
rs864622219
|
0.00004
|
|
NM_000455.5(STK11):c.1109-5C>T
|
rs587782020
|
0.00004
|
|
NM_000455.5(STK11):c.298C>G (p.Gln100Glu)
|
rs757841535
|
0.00004
|
|
NM_000455.5(STK11):c.355A>G (p.Asn119Asp)
|
rs545015076
|
0.00004
|
|
NM_000455.5(STK11):c.374+11C>T
|
rs368923696
|
0.00004
|
|
NM_000455.5(STK11):c.613G>A (p.Ala205Thr)
|
rs730881981
|
0.00004
|
|
NM_000455.5(STK11):c.631C>T (p.Arg211Trp)
|
rs185087320
|
0.00004
|
|
NM_000455.5(STK11):c.827G>T (p.Gly276Val)
|
rs749927908
|
0.00004
|
|
NM_000458.4(HNF1B):c.1008C>T (p.His336=)
|
rs150268130
|
0.00004
|
|
NM_000458.4(HNF1B):c.1539C>T (p.Tyr513=)
|
rs780554506
|
0.00004
|
|
NM_000465.4(BARD1):c.1473G>A (p.Gly491=)
|
rs151080730
|
0.00004
|
|
NM_000465.4(BARD1):c.160A>G (p.Thr54Ala)
|
rs200254470
|
0.00004
|
|
NM_000465.4(BARD1):c.1877A>G (p.Asn626Ser)
|
rs587781443
|
0.00004
|
|
NM_000465.4(BARD1):c.2280G>A (p.Ser760=)
|
rs749959440
|
0.00004
|
|
NM_000465.4(BARD1):c.353A>G (p.Asn118Ser)
|
rs142864491
|
0.00004
|
|
NM_000465.4(BARD1):c.365-7C>T
|
rs745929983
|
0.00004
|
|
NM_000465.4(BARD1):c.581G>A (p.Arg194Lys)
|
rs181748854
|
0.00004
|
|
NM_000465.4(BARD1):c.773T>C (p.Ile258Thr)
|
rs146223579
|
0.00004
|
|
NM_000465.4(BARD1):c.783A>G (p.Leu261=)
|
rs201862973
|
0.00004
|
|
NM_000466.3(PEX1):c.2296G>A (p.Asp766Asn)
|
rs374010060
|
0.00004
|
|
NM_000478.6(ALPL):c.398C>G (p.Ala133Gly)
|
rs184095519
|
0.00004
|
|
NM_000478.6(ALPL):c.648C>T (p.Asp216=)
|
rs201739155
|
0.00004
|
|
NM_000481.4(AMT):c.195C>T (p.His65=)
|
rs145243292
|
0.00004
|
|
NM_000481.4(AMT):c.283G>A (p.Val95Met)
|
rs183396486
|
0.00004
|
|
NM_000484.4(APP):c.727G>A (p.Asp243Asn)
|
rs750279232
|
0.00004
|
|
NM_000484.4(APP):c.917G>A (p.Arg306His)
|
rs202218688
|
0.00004
|
|
NM_000489.6(ATRX):c.1438A>G (p.Thr480Ala)
|
rs587780284
|
0.00004
|
|
NM_000489.6(ATRX):c.2484G>C (p.Met828Ile)
|
rs782705007
|
0.00004
|
|
NM_000489.6(ATRX):c.7439G>A (p.Arg2480Lys)
|
rs369871569
|
0.00004
|
|
NM_000492.4(CFTR):c.1227T>C (p.Phe409=)
|
rs778548877
|
0.00004
|
|
NM_000492.4(CFTR):c.1679+9C>G
|
rs775440240
|
0.00004
|
|
NM_000492.4(CFTR):c.202A>G (p.Lys68Glu)
|
rs397508332
|
0.00004
|
|
NM_000492.4(CFTR):c.2490+14G>T
|
rs573016418
|
0.00004
|
|
NM_000492.4(CFTR):c.3468G>T (p.Leu1156Phe)
|
rs139729994
|
0.00004
|
|
NM_000492.4(CFTR):c.393T>C (p.Phe131=)
|
rs1039221071
|
0.00004
|
|
NM_000492.4(CFTR):c.3964-28G>A
|
rs397508651
|
0.00004
|
|
NM_000493.4(COL10A1):c.2038A>G (p.Met680Val)
|
rs145003921
|
0.00004
|
|
NM_000498.3(CYP11B2):c.737G>A (p.Arg246His)
|
rs369953763
|
0.00004
|
|
NM_000501.4(ELN):c.2077C>T (p.Pro693Ser)
|
rs369804770
|
0.00004
|
|
NM_000506.5(F2):c.285G>A (p.Thr95=)
|
rs147892497
|
0.00004
|
|
NM_000516.7(GNAS):c.108C>T (p.Val36=)
|
rs146581290
|
0.00004
|
|
NM_000518.5(HBB):c.316-81T>A
|
rs911937119
|
0.00004
|
|
NM_000518.5(HBB):c.85C>T (p.Leu29=)
|
rs33958088
|
0.00004
|
|
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser)
|
rs575121167
|
0.00004
|
|
NM_000521.4(HEXB):c.672T>C (p.Asp224=)
|
rs761223179
|
0.00004
|
|
NM_000523.4(HOXD13):c.500A>G (p.Tyr167Cys)
|
rs200067774
|
0.00004
|
|
NM_000525.4(KCNJ11):c.567C>T (p.Ile189=)
|
rs114899765
|
0.00004
|
|
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser)
|
rs544453230
|
0.00004
|
|
NM_000527.5(LDLR):c.1078G>C (p.Asp360His)
|
rs777926251
|
0.00004
|
|
NM_000527.5(LDLR):c.1279A>C (p.Arg427=)
|
rs371355878
|
0.00004
|
|
NM_000527.5(LDLR):c.1358+7G>A
|
rs369709333
|
0.00004
|
|
NM_000527.5(LDLR):c.1402G>A (p.Val468Ile)
|
rs5932
|
0.00004
|
|
NM_000527.5(LDLR):c.190T>C (p.Leu64=)
|
rs761629258
|
0.00004
|
|
NM_000527.5(LDLR):c.1988-13T>G
|
rs200201131
|
0.00004
|
|
NM_000527.5(LDLR):c.2575G>A (p.Val859Met)
|
rs202049029
|
0.00004
|
|
NM_000527.5(LDLR):c.434T>C (p.Val145Ala)
|
rs776872913
|
0.00004
|
|
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)
|
rs768563000
|
0.00004
|
|
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)
|
rs139043155
|
0.00004
|
|
NM_000528.4(MAN2B1):c.1435G>T (p.Ala479Ser)
|
rs767199154
|
0.00004
|
|
NM_000528.4(MAN2B1):c.1845G>A (p.Thr615=)
|
rs369071579
|
0.00004
|
|
NM_000528.4(MAN2B1):c.2047-4G>A
|
rs768347546
|
0.00004
|
|
NM_000528.4(MAN2B1):c.2047-5C>T
|
rs200424566
|
0.00004
|
|
NM_000528.4(MAN2B1):c.282C>T (p.His94=)
|
rs766810849
|
0.00004
|
|
NM_000530.8(MPZ):c.211G>A (p.Glu71Lys)
|
rs573007540
|
0.00004
|
|
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln)
|
rs577625696
|
0.00004
|
|
NM_000535.7(PMS2):c.*17G>C
|
rs556089649
|
0.00004
|
|
NM_000535.7(PMS2):c.1288A>G (p.Thr430Ala)
|
rs587781382
|
0.00004
|
|
NM_000535.7(PMS2):c.1501G>A (p.Val501Met)
|
rs540287433
|
0.00004
|
|
NM_000535.7(PMS2):c.1828A>G (p.Lys610Glu)
|
rs199700509
|
0.00004
|
|
NM_000535.7(PMS2):c.1883G>A (p.Arg628Gln)
|
rs587780044
|
0.00004
|
|
NM_000535.7(PMS2):c.2049C>T (p.Asn683=)
|
rs752950007
|
0.00004
|
|
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile)
|
rs553286217
|
0.00004
|
|
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met)
|
rs576055272
|
0.00004
|
|
NM_000535.7(PMS2):c.475G>A (p.Val159Met)
|
rs142416537
|
0.00004
|
|
NM_000535.7(PMS2):c.591C>T (p.Gly197=)
|
rs748518694
|
0.00004
|
|
NM_000535.7(PMS2):c.916G>A (p.Val306Met)
|
rs587780063
|
0.00004
|
|
NM_000535.7(PMS2):c.961G>A (p.Val321Ile)
|
rs377043696
|
0.00004
|
|
NM_000539.3(RHO):c.362-10T>C
|
rs568571580
|
0.00004
|
|
NM_000540.3(RYR1):c.10458C>T (p.Ser3486=)
|
rs770132934
|
0.00004
|
|
NM_000540.3(RYR1):c.10485G>C (p.Lys3495Asn)
|
rs753726014
|
0.00004
|
|
NM_000540.3(RYR1):c.10917G>A (p.Thr3639=)
|
rs371952058
|
0.00004
|
|
NM_000540.3(RYR1):c.13269G>A (p.Glu4423=)
|
rs896569937
|
0.00004
|
|
NM_000540.3(RYR1):c.13498G>A (p.Glu4500Lys)
|
rs752192756
|
0.00004
|
|
NM_000540.3(RYR1):c.13998+3G>A
|
rs765404523
|
0.00004
|
|
NM_000540.3(RYR1):c.14538G>C (p.Ala4846=)
|
rs763954439
|
0.00004
|
|
NM_000540.3(RYR1):c.14700C>T (p.Asp4900=)
|
rs759063883
|
0.00004
|
|
NM_000540.3(RYR1):c.3021C>T (p.Ser1007=)
|
rs143891703
|
0.00004
|
|
NM_000540.3(RYR1):c.3108C>A (p.Asp1036Glu)
|
rs759317223
|
0.00004
|
|
NM_000540.3(RYR1):c.5287C>T (p.Pro1763Ser)
|
rs202225176
|
0.00004
|
|
NM_000540.3(RYR1):c.5638G>A (p.Glu1880Lys)
|
rs777733662
|
0.00004
|
|
NM_000540.3(RYR1):c.7689C>G (p.Thr2563=)
|
rs781110591
|
0.00004
|
|
NM_000540.3(RYR1):c.8305G>A (p.Asp2769Asn)
|
rs566495420
|
0.00004
|
|
NM_000540.3(RYR1):c.9354G>A (p.Ala3118=)
|
rs146408926
|
0.00004
|
|
NM_000540.3(RYR1):c.9477C>T (p.Asp3159=)
|
rs139409128
|
0.00004
|
|
NM_000540.3(RYR1):c.9859C>T (p.Arg3287Cys)
|
rs201276068
|
0.00004
|
|
NM_000543.5(SMPD1):c.1587G>A (p.Pro529=)
|
rs140770832
|
0.00004
|
|
NM_000543.5(SMPD1):c.1599G>A (p.Pro533=)
|
rs552841217
|
0.00004
|
|
NM_000545.8(HNF1A):c.1502-14T>C
|
rs765596650
|
0.00004
|
|
NM_000545.8(HNF1A):c.527-18G>A
|
rs375259151
|
0.00004
|
|
NM_000546.6(TP53):c.1096T>G (p.Ser366Ala)
|
rs17881470
|
0.00004
|
|
NM_000546.6(TP53):c.28G>A (p.Val10Ile)
|
rs535274413
|
0.00004
|
|
NM_000546.6(TP53):c.469G>A (p.Val157Ile)
|
rs121912654
|
0.00004
|
|
NM_000546.6(TP53):c.554G>A (p.Ser185Asn)
|
rs150607408
|
0.00004
|
|
NM_000546.6(TP53):c.642T>G (p.His214Gln)
|
rs587781386
|
0.00004
|
|
NM_000546.6(TP53):c.677G>T (p.Gly226Val)
|
rs970212462
|
0.00004
|
|
NM_000546.6(TP53):c.868C>T (p.Arg290Cys)
|
rs770374782
|
0.00004
|
|
NM_000546.6(TP53):c.91G>A (p.Val31Ile)
|
rs201753350
|
0.00004
|
|
NM_000546.6(TP53):c.998G>A (p.Arg333His)
|
rs573154688
|
0.00004
|
|
NM_000548.5(TSC2):c.1365C>T (p.Ser455=)
|
rs34567401
|
0.00004
|
|
NM_000548.5(TSC2):c.1600-9T>C
|
rs886043268
|
0.00004
|
|
NM_000548.5(TSC2):c.1816A>G (p.Ile606Val)
|
rs371074761
|
0.00004
|
|
NM_000548.5(TSC2):c.1931G>A (p.Cys644Tyr)
|
rs758301934
|
0.00004
|
|
NM_000548.5(TSC2):c.1981G>A (p.Gly661Ser)
|
rs137854168
|
0.00004
|
|
NM_000548.5(TSC2):c.2859C>T (p.Pro953=)
|
rs397514968
|
0.00004
|
|
NM_000548.5(TSC2):c.2887G>A (p.Val963Met)
|
rs45517275
|
0.00004
|
|
NM_000548.5(TSC2):c.3275C>T (p.Pro1092Leu)
|
rs587781774
|
0.00004
|
|
NM_000548.5(TSC2):c.3365G>A (p.Arg1122His)
|
rs369536711
|
0.00004
|
|
NM_000548.5(TSC2):c.3710C>T (p.Ala1237Val)
|
rs753907159
|
0.00004
|
|
NM_000548.5(TSC2):c.3871G>A (p.Val1291Ile)
|
rs201135184
|
0.00004
|
|
NM_000548.5(TSC2):c.5130C>T (p.Phe1710=)
|
rs760978505
|
0.00004
|
|
NM_000548.5(TSC2):c.5234G>A (p.Arg1745His)
|
rs766093661
|
0.00004
|
|
NM_000548.5(TSC2):c.5308C>T (p.Pro1770Ser)
|
rs761181064
|
0.00004
|
|
NM_000548.5(TSC2):c.759C>T (p.Cys253=)
|
rs45517125
|
0.00004
|
|
NM_000548.5(TSC2):c.861G>C (p.Glu287Asp)
|
rs192567788
|
0.00004
|
|
NM_000551.4(VHL):c.119C>T (p.Pro40Leu)
|
rs200343185
|
0.00004
|
|
NM_000551.4(VHL):c.631A>C (p.Met211Leu)
|
rs200019083
|
0.00004
|
|
NM_000553.6(WRN):c.3778G>A (p.Ala1260Thr)
|
rs201107091
|
0.00004
|
|
NM_000553.6(WRN):c.3881C>T (p.Ala1294Val)
|
rs146861737
|
0.00004
|
|
NM_000601.6(HGF):c.2179C>T (p.Gln727Ter)
|
rs140790665
|
0.00004
|
|
NM_000639.3(FASLG):c.176C>T (p.Pro59Leu)
|
rs375737004
|
0.00004
|
|
NM_000642.3(AGL):c.1899+9C>G
|
rs768285138
|
0.00004
|
|
NM_000642.3(AGL):c.241T>C (p.Cys81Arg)
|
rs201584227
|
0.00004
|
|
NM_000642.3(AGL):c.3738A>T (p.Gly1246=)
|
rs780617757
|
0.00004
|
|
NM_000709.4(BCKDHA):c.1080C>T (p.Pro360=)
|
rs373390136
|
0.00004
|
|
NM_000719.7(CACNA1C):c.1554C>T (p.Arg518=)
|
rs398123517
|
0.00004
|
|
NM_000719.7(CACNA1C):c.5424G>A (p.Ala1808=)
|
rs587780881
|
0.00004
|
|
NM_000719.7(CACNA1C):c.5737G>A (p.Asp1913Asn)
|
rs181502604
|
0.00004
|
|
NM_000726.5(CACNB4):c.36G>A (p.Ala12=)
|
rs754380009
|
0.00004
|
|
NM_000744.7(CHRNA4):c.1637T>G (p.Val546Gly)
|
rs764888239
|
0.00004
|
|
NM_000747.3(CHRNB1):c.1225C>G (p.Pro409Ala)
|
rs202144045
|
0.00004
|
|
NM_000751.3(CHRND):c.1253-10T>G
|
rs199508773
|
0.00004
|
|
NM_000780.4(CYP7A1):c.1409T>C (p.Ile470Thr)
|
rs779269724
|
0.00004
|
|
NM_000780.4(CYP7A1):c.318G>A (p.Ala106=)
|
rs200839929
|
0.00004
|
|
NM_000784.4(CYP27A1):c.1025A>G (p.Asn342Ser)
|
rs778458082
|
0.00004
|
|
NM_000784.4(CYP27A1):c.1569C>T (p.Gly523=)
|
rs748616891
|
0.00004
|
|
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr)
|
rs556745324
|
0.00004
|
|
NM_000789.4(ACE):c.1227T>C (p.Arg409=)
|
rs373568007
|
0.00004
|
|
NM_000834.5(GRIN2B):c.275G>A (p.Arg92Gln)
|
rs201966022
|
0.00004
|
|
NM_000834.5(GRIN2B):c.3993G>A (p.Met1331Ile)
|
rs200035225
|
0.00004
|
|
NM_000875.5(IGF1R):c.1485C>T (p.Phe495=)
|
rs886043360
|
0.00004
|
|
NM_000883.4(IMPDH1):c.1164C>T (p.Asn388=)
|
rs149603914
|
0.00004
|
|
NM_000883.4(IMPDH1):c.1623C>T (p.Phe541=)
|
rs749416988
|
0.00004
|
|
NM_000891.3(KCNJ2):c.1199C>T (p.Thr400Met)
|
rs144022753
|
0.00004
|
|
NM_001003800.2(BICD2):c.1696C>T (p.Arg566Cys)
|
rs748022488
|
0.00004
|
|
NM_001004127.3(ALG11):c.1269G>A (p.Lys423=)
|
rs369694921
|
0.00004
|
|
NM_001004334.4(GPR179):c.6697A>G (p.Lys2233Glu)
|
rs375908513
|
0.00004
|
|
NM_001005242.3(PKP2):c.1379-1997G>A
|
rs781072699
|
0.00004
|
|
NM_001005242.3(PKP2):c.1379-2102C>G
|
rs762631031
|
0.00004
|
|
NM_001005242.3(PKP2):c.1452G>A (p.Thr484=)
|
rs727504098
|
0.00004
|
|
NM_001005242.3(PKP2):c.1464C>T (p.Ile488=)
|
rs145387575
|
0.00004
|
|
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=)
|
rs529442984
|
0.00004
|
|
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu)
|
rs144018320
|
0.00004
|
|
NM_001005242.3(PKP2):c.2019G>A (p.Pro673=)
|
rs147995773
|
0.00004
|
|
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val)
|
rs551045165
|
0.00004
|
|
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr)
|
rs141438322
|
0.00004
|
|
NM_001005242.3(PKP2):c.789G>A (p.Thr263=)
|
rs760432217
|
0.00004
|
|
NM_001005242.3(PKP2):c.953A>C (p.His318Pro)
|
rs181098323
|
0.00004
|
|
NM_001005361.3(DNM2):c.2418G>A (p.Ala806=)
|
rs200968756
|
0.00004
|
|
NM_001005373.4(LRSAM1):c.1141C>T (p.Arg381Trp)
|
rs763390117
|
0.00004
|
|
NM_001005498.4(RHBDF2):c.335G>A (p.Arg112His)
|
rs546484250
|
0.00004
|
|
NM_001008216.2(GALE):c.874-9G>A
|
rs764448821
|
0.00004
|
|
NM_001008537.3(NEXMIF):c.2130G>A (p.Lys710=)
|
rs749479992
|
0.00004
|
|
NM_001008537.3(NEXMIF):c.262G>A (p.Glu88Lys)
|
rs927047621
|
0.00004
|
|
NM_001009944.3(PKD1):c.7100C>T (p.Ser2367Phe)
|
rs771932172
|
0.00004
|
|
NM_001009944.3(PKD1):c.9626G>A (p.Arg3209His)
|
rs1063405
|
0.00004
|
|
NM_001012339.3(DNAJC21):c.414A>G (p.Gly138=)
|
rs888250694
|
0.00004
|
|
NM_001017420.3(ESCO2):c.742A>G (p.Thr248Ala)
|
rs750159862
|
0.00004
|
|
NM_001018005.2(TPM1):c.851+7G>A
|
rs765721221
|
0.00004
|
|
NM_001018115.3(FANCD2):c.4052C>T (p.Thr1351Met)
|
rs775898191
|
0.00004
|
|
NM_001018116.2(CAVIN4):c.920G>C (p.Ser307Thr)
|
rs751703046
|
0.00004
|
|
NM_001025295.3(IFITM5):c.21C>T (p.Arg7=)
|
rs755699416
|
0.00004
|
|
NM_001025603.2(RFX5):c.117-13C>T
|
rs371670135
|
0.00004
|
|
NM_001032382.2(PQBP1):c.541C>T (p.Arg181Trp)
|
rs782792216
|
0.00004
|
|
NM_001033044.4(GLUL):c.930C>T (p.Asn310=)
|
rs369280031
|
0.00004
|
|
NM_001033855.3(DCLRE1C):c.1800T>C (p.Asp600=)
|
rs199619187
|
0.00004
|
|
NM_001033855.3(DCLRE1C):c.261C>A (p.Ile87=)
|
rs191086777
|
0.00004
|
|
NM_001033855.3(DCLRE1C):c.915G>A (p.Val305=)
|
rs774772480
|
0.00004
|
|
NM_001034853.2(RPGR):c.1170T>G (p.Phe390Leu)
|
rs765979499
|
0.00004
|
|
NM_001035.3(RYR2):c.10035G>A (p.Arg3345=)
|
rs754976419
|
0.00004
|
|
NM_001035.3(RYR2):c.1005+7C>T
|
rs774100182
|
0.00004
|
|
NM_001035.3(RYR2):c.10495-14A>G
|
rs727505057
|
0.00004
|
|
NM_001035.3(RYR2):c.11557+15G>A
|
rs761490797
|
0.00004
|
|
NM_001035.3(RYR2):c.12858C>T (p.Ser4286=)
|
rs185482345
|
0.00004
|
|
NM_001035.3(RYR2):c.14875C>T (p.Arg4959Trp)
|
rs755308070
|
0.00004
|
|
NM_001035.3(RYR2):c.4160+7A>G
|
rs377465289
|
0.00004
|
|
NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile)
|
rs201675951
|
0.00004
|
|
NM_001035.3(RYR2):c.4875G>A (p.Leu1625=)
|
rs369323506
|
0.00004
|
|
NM_001035.3(RYR2):c.5588C>T (p.Thr1863Met)
|
rs770863319
|
0.00004
|
|
NM_001035.3(RYR2):c.5923A>G (p.Met1975Val)
|
rs200318013
|
0.00004
|
|
NM_001035.3(RYR2):c.8309T>C (p.Ile2770Thr)
|
rs397516550
|
0.00004
|
|
NM_001035.3(RYR2):c.9435T>C (p.Ser3145=)
|
rs774657844
|
0.00004
|
|
NM_001035.3(RYR2):c.982G>A (p.Ala328Thr)
|
rs201669522
|
0.00004
|
|
NM_001037333.3(CYFIP2):c.3382C>T (p.Arg1128Trp)
|
rs376484231
|
0.00004
|
|
NM_001038603.3(MARVELD2):c.273A>T (p.Arg91Ser)
|
rs202188305
|
0.00004
|
|
NM_001039141.3(TRIOBP):c.7010G>A (p.Arg2337Gln)
|
rs200850285
|
0.00004
|
|
NM_001039213.4(CEACAM16):c.551G>A (p.Arg184Gln)
|
rs577629047
|
0.00004
|
|
NM_001039876.3(SYNE4):c.106G>A (p.Ala36Thr)
|
rs774276326
|
0.00004
|
|
NM_001040142.2(SCN2A):c.1399G>A (p.Ala467Thr)
|
rs745774658
|
0.00004
|
|
NM_001040142.2(SCN2A):c.2019C>G (p.Gly673=)
|
rs587781156
|
0.00004
|
|
NM_001040151.2(SCN3B):c.73G>T (p.Val25Leu)
|
rs746954414
|
0.00004
|
|
NM_001040716.2(PC):c.1607C>T (p.Pro536Leu)
|
rs751657066
|
0.00004
|
|
NM_001040716.2(PC):c.2899-9G>A
|
rs372755874
|
0.00004
|
|
NM_001042413.2(GLIS3):c.1779C>T (p.Gly593=)
|
rs370278575
|
0.00004
|
|
NM_001042432.2(CLN3):c.*29A>G
|
rs778438984
|
0.00004
|
|
NM_001042432.2(CLN3):c.125+3G>A
|
rs775577824
|
0.00004
|
|
NM_001042432.2(CLN3):c.516C>T (p.Leu172=)
|
rs148846795
|
0.00004
|
|
NM_001042472.3(ABHD12):c.540C>T (p.Thr180=)
|
rs777592249
|
0.00004
|
|
NM_001042492.3(NF1):c.181A>G (p.Ile61Val)
|
rs754295034
|
0.00004
|
|
NM_001042492.3(NF1):c.231A>T (p.Lys77Asn)
|
rs373563053
|
0.00004
|
|
NM_001042492.3(NF1):c.3358G>C (p.Val1120Leu)
|
rs200594167
|
0.00004
|
|
NM_001042492.3(NF1):c.3371G>A (p.Ser1124Asn)
|
rs374472758
|
0.00004
|
|
NM_001042492.3(NF1):c.3484A>G (p.Met1162Val)
|
rs773968270
|
0.00004
|
|
NM_001042492.3(NF1):c.3690G>T (p.Val1230=)
|
rs183296277
|
0.00004
|
|
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)
|
rs143836226
|
0.00004
|
|
NM_001042492.3(NF1):c.4111-4G>A
|
rs764877783
|
0.00004
|
|
NM_001042492.3(NF1):c.5257G>A (p.Val1753Ile)
|
rs148540952
|
0.00004
|
|
NM_001042492.3(NF1):c.6428-3C>T
|
rs374014162
|
0.00004
|
|
NM_001042492.3(NF1):c.6664A>G (p.Thr2222Ala)
|
rs745945481
|
0.00004
|
|
NM_001042492.3(NF1):c.7046G>A (p.Arg2349His)
|
rs864622065
|
0.00004
|
|
NM_001042492.3(NF1):c.7528A>G (p.Thr2510Ala)
|
rs145794301
|
0.00004
|
|
NM_001042492.3(NF1):c.8490C>A (p.Phe2830Leu)
|
rs760550772
|
0.00004
|
|
NM_001042492.3(NF1):c.898C>T (p.Leu300=)
|
rs786201926
|
0.00004
|
|
NM_001048166.1(STIL):c.1227T>C (p.Ser409=)
|
rs200532713
|
0.00004
|
|
NM_001048166.1(STIL):c.2132C>T (p.Ser711Leu)
|
rs201448287
|
0.00004
|
|
NM_001048166.1(STIL):c.892A>G (p.Asn298Asp)
|
rs770213403
|
0.00004
|
|
NM_001048174.2(MUTYH):c.1463C>T (p.Pro488Leu)
|
rs587778542
|
0.00004
|
|
NM_001048174.2(MUTYH):c.305-6C>T
|
rs376600220
|
0.00004
|
|
NM_001048174.2(MUTYH):c.325C>T (p.Leu109=)
|
rs368963039
|
0.00004
|
|
NM_001048174.2(MUTYH):c.797G>A (p.Arg266His)
|
rs146044717
|
0.00004
|
|
NM_001048174.2(MUTYH):c.87C>T (p.Asn29=)
|
rs141679570
|
0.00004
|
|
NM_001077350.3(NPRL3):c.515C>T (p.Ala172Val)
|
rs778177582
|
0.00004
|
|
NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile)
|
rs377304621
|
0.00004
|
|
NM_001077365.2(POMT1):c.2003+9G>A
|
rs368975092
|
0.00004
|
|
NM_001077365.2(POMT1):c.699+85C>G
|
rs369000699
|
0.00004
|
|
NM_001079802.2(FKTN):c.1228C>A (p.His410Asn)
|
rs146272618
|
0.00004
|
|
NM_001080.3(ALDH5A1):c.924C>T (p.Gly308=)
|
rs188108571
|
0.00004
|
|
NM_001080414.4(CCDC88C):c.708C>T (p.Ser236=)
|
rs745338278
|
0.00004
|
|
NM_001080467.3(MYO5B):c.2881C>T (p.Arg961Trp)
|
rs556141097
|
0.00004
|
|
NM_001080517.3(SETD5):c.504A>C (p.Lys168Asn)
|
rs370585538
|
0.00004
|
|
NM_001080517.3(SETD5):c.810+3A>G
|
rs372081870
|
0.00004
|
|
NM_001081.4(CUBN):c.2203G>A (p.Val735Ile)
|
rs370770104
|
0.00004
|
|
NM_001082971.2(DDC):c.1044T>C (p.His348=)
|
rs527805112
|
0.00004
|
|
NM_001082971.2(DDC):c.316-6C>T
|
rs377474761
|
0.00004
|
|
NM_001082971.2(DDC):c.822C>T (p.Tyr274=)
|
rs746729797
|
0.00004
|
|
NM_001083603.3(PTCH1):c.157G>C (p.Glu53Gln)
|
rs185570125
|
0.00004
|
|
NM_001083614.2(EARS2):c.958+4C>T
|
rs543979506
|
0.00004
|
|
NM_001083961.2(WDR62):c.1977C>T (p.Asn659=)
|
rs79238222
|
0.00004
|
|
NM_001083961.2(WDR62):c.3733C>A (p.Leu1245Met)
|
rs763947043
|
0.00004
|
|
NM_001083961.2(WDR62):c.4144C>T (p.Pro1382Ser)
|
rs772768990
|
0.00004
|
|
NM_001083961.2(WDR62):c.4329G>A (p.Gln1443=)
|
rs771131709
|
0.00004
|
|
NM_001083962.2(TCF4):c.1283G>T (p.Gly428Val)
|
rs186508321
|
0.00004
|
|
NM_001085487.3(MYSM1):c.2296C>T (p.Arg766Cys)
|
rs141454457
|
0.00004
|
|
NM_001101362.3(KBTBD13):c.1184C>T (p.Thr395Met)
|
rs758995387
|
0.00004
|
|
NM_001101362.3(KBTBD13):c.1191G>C (p.Val397=)
|
rs376673920
|
0.00004
|
|
NM_001101426.4(CRPPA):c.789+9G>A
|
rs375132134
|
0.00004
|
|
NM_001103.4(ACTN2):c.2552G>A (p.Arg851His)
|
rs201335965
|
0.00004
|
|
NM_001103.4(ACTN2):c.2602G>A (p.Ala868Thr)
|
rs143150260
|
0.00004
|
|
NM_001105206.3(LAMA4):c.3165C>T (p.Ser1055=)
|
rs782303510
|
0.00004
|
|
NM_001105206.3(LAMA4):c.412C>T (p.His138Tyr)
|
rs727503113
|
0.00004
|
|
NM_001105206.3(LAMA4):c.967-16A>G
|
rs80110492
|
0.00004
|
|
NM_001110556.2(FLNA):c.1621G>A (p.Glu541Lys)
|
rs743546
|
0.00004
|
|
NM_001110556.2(FLNA):c.1964G>A (p.Arg655His)
|
rs782563602
|
0.00004
|
|
NM_001110556.2(FLNA):c.3216G>A (p.Ala1072=)
|
rs782006734
|
0.00004
|
|
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu)
|
rs782426283
|
0.00004
|
|
NM_001110556.2(FLNA):c.5138C>T (p.Thr1713Met)
|
rs782555986
|
0.00004
|
|
NM_001110556.2(FLNA):c.5218-4G>A
|
rs370196495
|
0.00004
|
|
NM_001110556.2(FLNA):c.6314C>G (p.Thr2105Ser)
|
rs200200745
|
0.00004
|
|
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu)
|
rs61753016
|
0.00004
|
|
NM_001110792.2(MECP2):c.1410C>T (p.Arg470=)
|
rs781825661
|
0.00004
|
|
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp)
|
rs61750239
|
0.00004
|
|
NM_001110792.2(MECP2):c.877G>A (p.Ala293Thr)
|
rs782239416
|
0.00004
|
|
NM_001114753.3(ENG):c.1019C>T (p.Pro340Leu)
|
rs772135786
|
0.00004
|
|
NM_001114753.3(ENG):c.1389C>T (p.Ala463=)
|
rs200168633
|
0.00004
|
|
NM_001114753.3(ENG):c.596G>A (p.Arg199His)
|
rs548424658
|
0.00004
|
|
NM_001114753.3(ENG):c.9C>T (p.Arg3=)
|
rs752431673
|
0.00004
|
|
NM_001122630.2(CDKN1C):c.579G>A (p.Pro193=)
|
rs794726872
|
0.00004
|
|
NM_001122630.2(CDKN1C):c.597C>G (p.Pro199=)
|
rs767656648
|
0.00004
|
|
NM_001122659.3(EDNRB):c.99T>C (p.Pro33=)
|
rs1050929
|
0.00004
|
|
NM_001122681.2(SH3BP2):c.1351-13C>T
|
rs367963191
|
0.00004
|
|
NM_001122769.3(LCA5):c.1800A>G (p.Lys600=)
|
rs147032284
|
0.00004
|
|
NM_001122955.4(BSCL2):c.359A>G (p.Tyr120Cys)
|
rs370905417
|
0.00004
|
|
NM_001126049.2(KLLN):c.-806A>C
|
rs587782761
|
0.00004
|
|
NM_001126108.2(SLC12A3):c.1956C>A (p.Pro652=)
|
rs200091201
|
0.00004
|
|
NM_001126121.2(SLC25A19):c.564C>T (p.Tyr188=)
|
rs145654111
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.1233G>A (p.Gly411=)
|
rs764453012
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3175C>T (p.Pro1059Ser)
|
rs775079932
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3226G>A (p.Ala1076Thr)
|
rs554091859
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3547G>A (p.Val1183Ile)
|
rs373224251
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.5451C>T (p.Thr1817=)
|
rs188863534
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.5945G>A (p.Arg1982Gln)
|
rs745775887
|
0.00004
|
|
NM_001128148.3(TFRC):c.435-10T>G
|
rs200318282
|
0.00004
|
|
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln)
|
rs780427871
|
0.00004
|
|
NM_001128205.2(SULF1):c.529G>A (p.Gly177Ser)
|
rs538017286
|
0.00004
|
|
NM_001128225.3(SLC39A13):c.222T>A (p.Gly74=)
|
rs753665968
|
0.00004
|
|
NM_001128225.3(SLC39A13):c.934G>A (p.Ala312Thr)
|
rs749499150
|
0.00004
|
|
NM_001128840.3(CACNA1D):c.2069A>G (p.Asn690Ser)
|
rs149676780
|
0.00004
|
|
NM_001128840.3(CACNA1D):c.5439C>T (p.Ser1813=)
|
rs761519681
|
0.00004
|
|
NM_001128840.3(CACNA1D):c.6217C>T (p.Arg2073Cys)
|
rs140215004
|
0.00004
|
|
NM_001130438.3(SPTAN1):c.1667A>G (p.Asn556Ser)
|
rs778489951
|
0.00004
|
|
NM_001130987.2(DYSF):c.1287C>T (p.Ala429=)
|
rs769254776
|
0.00004
|
|
NM_001130987.2(DYSF):c.1807-10C>T
|
rs749361351
|
0.00004
|
|
NM_001130987.2(DYSF):c.1985-4C>G
|
rs374489513
|
0.00004
|
|
NM_001130987.2(DYSF):c.2016C>T (p.Asn672=)
|
rs199565036
|
0.00004
|
|
NM_001130987.2(DYSF):c.2370G>A (p.Ala790=)
|
rs553605812
|
0.00004
|
|
NM_001130987.2(DYSF):c.2820C>T (p.Ala940=)
|
rs373328706
|
0.00004
|
|
NM_001130987.2(DYSF):c.3228+7C>T
|
rs534331009
|
0.00004
|
|
NM_001130987.2(DYSF):c.4059+7C>T
|
rs562567295
|
0.00004
|
|
NM_001130987.2(DYSF):c.4858C>T (p.Arg1620Cys)
|
rs752946123
|
0.00004
|
|
NM_001130987.2(DYSF):c.5742C>T (p.Phe1914=)
|
rs769289729
|
0.00004
|
|
NM_001134363.3(RBM20):c.1244G>A (p.Ser415Asn)
|
rs748133931
|
0.00004
|
|
NM_001134363.3(RBM20):c.1553G>A (p.Arg518His)
|
rs762725902
|
0.00004
|
|
NM_001134363.3(RBM20):c.1814C>T (p.Ala605Val)
|
rs754805893
|
0.00004
|
|
NM_001134363.3(RBM20):c.2200C>T (p.Arg734Trp)
|
rs199972578
|
0.00004
|
|
NM_001134363.3(RBM20):c.224C>T (p.Ser75Leu)
|
rs191342808
|
0.00004
|
|
NM_001134363.3(RBM20):c.2357A>G (p.Asp786Gly)
|
rs561904103
|
0.00004
|
|
NM_001134363.3(RBM20):c.2991G>A (p.Val997=)
|
rs756276591
|
0.00004
|
|
NM_001134363.3(RBM20):c.305G>A (p.Arg102Gln)
|
rs886046699
|
0.00004
|
|
NM_001134363.3(RBM20):c.3266C>G (p.Pro1089Arg)
|
rs772708424
|
0.00004
|
|
NM_001134363.3(RBM20):c.3344C>T (p.Ser1115Phe)
|
rs769531546
|
0.00004
|
|
NM_001134363.3(RBM20):c.3574-6C>G
|
rs762069628
|
0.00004
|
|
NM_001134363.3(RBM20):c.3649G>A (p.Gly1217Arg)
|
rs867232627
|
0.00004
|
|
NM_001134363.3(RBM20):c.613C>A (p.Gln205Lys)
|
rs779777625
|
0.00004
|
|
NM_001134363.3(RBM20):c.99G>C (p.Pro33=)
|
rs921066961
|
0.00004
|
|
NM_001134407.3(GRIN2A):c.1119A>G (p.Glu373=)
|
rs368406915
|
0.00004
|
|
NM_001134407.3(GRIN2A):c.2664G>A (p.Thr888=)
|
rs113847665
|
0.00004
|
|
NM_001134407.3(GRIN2A):c.3363T>G (p.Asp1121Glu)
|
rs764292783
|
0.00004
|
|
NM_001134407.3(GRIN2A):c.3787G>A (p.Gly1263Arg)
|
rs142113044
|
0.00004
|
|
NM_001134407.3(GRIN2A):c.3884T>C (p.Ile1295Thr)
|
rs757351084
|
0.00004
|
|
NM_001134407.3(GRIN2A):c.3961G>C (p.Glu1321Gln)
|
rs370754278
|
0.00004
|
|
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile)
|
rs587780353
|
0.00004
|
|
NM_001134407.3(GRIN2A):c.747C>T (p.Thr249=)
|
rs774169125
|
0.00004
|
|
NM_001134673.4(NFIA):c.194C>T (p.Pro65Leu)
|
rs201450663
|
0.00004
|
|
NM_001142800.2(EYS):c.1470C>T (p.Gly490=)
|
rs778161042
|
0.00004
|
|
NM_001142800.2(EYS):c.3164+7A>T
|
rs963551759
|
0.00004
|
|
NM_001142800.2(EYS):c.9414T>G (p.Asp3138Glu)
|
rs374161234
|
0.00004
|
|
NM_001142864.4(PIEZO1):c.4958G>A (p.Arg1653His)
|
rs992473797
|
0.00004
|
|
NM_001142864.4(PIEZO1):c.7169G>A (p.Arg2390Gln)
|
rs377011269
|
0.00004
|
|
NM_001145358.2(SIN3A):c.618C>A (p.Gly206=)
|
rs372626992
|
0.00004
|
|
NM_001145358.2(SIN3A):c.621G>A (p.Gln207=)
|
rs372433846
|
0.00004
|
|
NM_001145809.2(MYH14):c.5105T>C (p.Val1702Ala)
|
rs775130663
|
0.00004
|
|
NM_001145809.2(MYH14):c.543C>T (p.Ala181=)
|
rs746669662
|
0.00004
|
|
NM_001145809.2(MYH14):c.68C>T (p.Ala23Val)
|
rs765789880
|
0.00004
|
|
NM_001148.6(ANK2):c.10503A>G (p.Ile3501Met)
|
rs370472530
|
0.00004
|
|
NM_001148.6(ANK2):c.10945A>G (p.Met3649Val)
|
rs145856327
|
0.00004
|
|
NM_001148.6(ANK2):c.1773T>C (p.Ser591=)
|
rs374775005
|
0.00004
|
|
NM_001148.6(ANK2):c.5329G>C (p.Val1777Leu)
|
rs886059014
|
0.00004
|
|
NM_001148.6(ANK2):c.5758G>A (p.Gly1920Arg)
|
rs140189724
|
0.00004
|
|
NM_001148.6(ANK2):c.6973G>C (p.Asp2325His)
|
rs1298469624
|
0.00004
|
|
NM_001148.6(ANK2):c.7105G>T (p.Val2369Phe)
|
rs758054052
|
0.00004
|
|
NM_001148.6(ANK2):c.7396C>T (p.Arg2466Cys)
|
rs562115547
|
0.00004
|
|
NM_001148.6(ANK2):c.8041C>G (p.Leu2681Val)
|
rs1489919946
|
0.00004
|
|
NM_001148.6(ANK2):c.9679A>C (p.Thr3227Pro)
|
rs140604600
|
0.00004
|
|
NM_001160372.4(TRAPPC9):c.2037G>A (p.Pro679=)
|
rs371880751
|
0.00004
|
|
NM_001160372.4(TRAPPC9):c.2704C>T (p.Arg902Trp)
|
rs370626310
|
0.00004
|
|
NM_001160372.4(TRAPPC9):c.2793C>T (p.His931=)
|
rs886062722
|
0.00004
|
|
NM_001161352.2(KCNMA1):c.1227C>T (p.His409=)
|
rs202161397
|
0.00004
|
|
NM_001161352.2(KCNMA1):c.1407C>T (p.Ser469=)
|
rs370862113
|
0.00004
|
|
NM_001161352.2(KCNMA1):c.1563C>A (p.Ile521=)
|
rs78544619
|
0.00004
|
|
NM_001161352.2(KCNMA1):c.771C>T (p.Pro257=)
|
rs367642241
|
0.00004
|
|
NM_001164508.2(NEB):c.10092C>T (p.Pro3364=)
|
rs768708852
|
0.00004
|
|
NM_001164508.2(NEB):c.1015G>A (p.Ala339Thr)
|
rs762993577
|
0.00004
|
|
NM_001164508.2(NEB):c.11851G>A (p.Val3951Met)
|
rs759624618
|
0.00004
|
|
NM_001164508.2(NEB):c.17183A>T (p.Asp5728Val)
|
rs756098317
|
0.00004
|
|
NM_001164508.2(NEB):c.17415C>T (p.Tyr5805=)
|
rs555516831
|
0.00004
|
|
NM_001164508.2(NEB):c.18115G>A (p.Asp6039Asn)
|
rs377076154
|
0.00004
|
|
NM_001164508.2(NEB):c.18885G>A (p.Leu6295=)
|
rs141925015
|
0.00004
|
|
NM_001164508.2(NEB):c.19110T>C (p.Tyr6370=)
|
rs771969348
|
0.00004
|
|
NM_001164508.2(NEB):c.19214A>G (p.Tyr6405Cys)
|
rs368240939
|
0.00004
|
|
NM_001164508.2(NEB):c.1953G>A (p.Glu651=)
|
rs367997645
|
0.00004
|
|
NM_001164508.2(NEB):c.19722A>G (p.Leu6574=)
|
rs141526973
|
0.00004
|
|
NM_001164508.2(NEB):c.19989A>T (p.Arg6663Ser)
|
rs755153044
|
0.00004
|
|
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp)
|
rs533233215
|
0.00004
|
|
NM_001164508.2(NEB):c.20132G>A (p.Arg6711Gln)
|
rs781250495
|
0.00004
|
|
NM_001164508.2(NEB):c.20260G>A (p.Glu6754Lys)
|
rs776334631
|
0.00004
|
|
NM_001164508.2(NEB):c.20417T>C (p.Leu6806Pro)
|
rs767873861
|
0.00004
|
|
NM_001164508.2(NEB):c.20834C>T (p.Pro6945Leu)
|
rs376157878
|
0.00004
|
|
NM_001164508.2(NEB):c.22183G>A (p.Val7395Ile)
|
rs1396168176
|
0.00004
|
|
NM_001164508.2(NEB):c.22349C>T (p.Thr7450Ile)
|
rs575499014
|
0.00004
|
|
NM_001164508.2(NEB):c.2250G>A (p.Thr750=)
|
rs753965951
|
0.00004
|
|
NM_001164508.2(NEB):c.23382G>A (p.Ser7794=)
|
rs770713773
|
0.00004
|
|
NM_001164508.2(NEB):c.23525G>A (p.Arg7842His)
|
rs369514998
|
0.00004
|
|
NM_001164508.2(NEB):c.23710C>T (p.Arg7904Cys)
|
rs758166991
|
0.00004
|
|
NM_001164508.2(NEB):c.23789C>A (p.Thr7930Asn)
|
rs760905651
|
0.00004
|
|
NM_001164508.2(NEB):c.23928G>A (p.Ser7976=)
|
rs558657964
|
0.00004
|
|
NM_001164508.2(NEB):c.24671C>T (p.Ser8224Leu)
|
rs746031384
|
0.00004
|
|
NM_001164508.2(NEB):c.25009G>A (p.Val8337Ile)
|
rs377336846
|
0.00004
|
|
NM_001164508.2(NEB):c.25073G>A (p.Arg8358His)
|
rs796797375
|
0.00004
|
|
NM_001164508.2(NEB):c.25130G>A (p.Arg8377Gln)
|
rs369174368
|
0.00004
|
|
NM_001164508.2(NEB):c.25239A>G (p.Glu8413=)
|
rs576696191
|
0.00004
|
|
NM_001164508.2(NEB):c.25415G>A (p.Arg8472His)
|
rs368346105
|
0.00004
|
|
NM_001164508.2(NEB):c.3425A>T (p.Asp1142Val)
|
rs370976402
|
0.00004
|
|
NM_001164508.2(NEB):c.3571G>A (p.Val1191Ile)
|
rs767493706
|
0.00004
|
|
NM_001164508.2(NEB):c.4072T>C (p.Tyr1358His)
|
rs377054979
|
0.00004
|
|
NM_001164508.2(NEB):c.4119C>G (p.Asn1373Lys)
|
rs377653217
|
0.00004
|
|
NM_001164508.2(NEB):c.4271C>T (p.Thr1424Met)
|
rs372694084
|
0.00004
|
|
NM_001164508.2(NEB):c.4315G>A (p.Glu1439Lys)
|
rs771779312
|
0.00004
|
|
NM_001164508.2(NEB):c.4414T>C (p.Tyr1472His)
|
rs748121656
|
0.00004
|
|
NM_001164508.2(NEB):c.47A>T (p.Glu16Val)
|
rs748679499
|
0.00004
|
|
NM_001164508.2(NEB):c.491C>T (p.Ser164Leu)
|
rs747225286
|
0.00004
|
|
NM_001164508.2(NEB):c.5174T>C (p.Phe1725Ser)
|
rs368270996
|
0.00004
|
|
NM_001164508.2(NEB):c.5429C>T (p.Ala1810Val)
|
rs752744680
|
0.00004
|
|
NM_001164508.2(NEB):c.5452-4A>G
|
rs376623225
|
0.00004
|
|
NM_001164508.2(NEB):c.5849A>G (p.Lys1950Arg)
|
rs758655350
|
0.00004
|
|
NM_001164508.2(NEB):c.6011T>C (p.Val2004Ala)
|
rs764064217
|
0.00004
|
|
NM_001164508.2(NEB):c.6513T>C (p.Asp2171=)
|
rs376535906
|
0.00004
|
|
NM_001164508.2(NEB):c.6916-20T>C
|
rs780933765
|
0.00004
|
|
NM_001164508.2(NEB):c.7582G>A (p.Asp2528Asn)
|
rs369496057
|
0.00004
|
|
NM_001164508.2(NEB):c.7677C>T (p.Leu2559=)
|
rs371565168
|
0.00004
|
|
NM_001164508.2(NEB):c.7758C>T (p.Asp2586=)
|
rs559846137
|
0.00004
|
|
NM_001164508.2(NEB):c.8363T>C (p.Ile2788Thr)
|
rs990382620
|
0.00004
|
|
NM_001164508.2(NEB):c.8834T>C (p.Val2945Ala)
|
rs748120166
|
0.00004
|
|
NM_001164508.2(NEB):c.8864A>G (p.Lys2955Arg)
|
rs760903716
|
0.00004
|
|
NM_001164665.2(KIAA1549):c.4032+5C>T
|
rs373889793
|
0.00004
|
|
NM_001164665.2(KIAA1549):c.5598C>T (p.Ala1866=)
|
rs1336694554
|
0.00004
|
|
NM_001164688.2(RD3):c.498C>T (p.Ile166=)
|
rs779584830
|
0.00004
|
|
NM_001165963.4(SCN1A):c.1604G>A (p.Arg535His)
|
rs184524479
|
0.00004
|
|
NM_001165963.4(SCN1A):c.3585T>C (p.Asn1195=)
|
rs138181528
|
0.00004
|
|
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu)
|
rs372425457
|
0.00004
|
|
NM_001166114.2(PNPLA6):c.864G>A (p.Pro288=)
|
rs369082833
|
0.00004
|
|
NM_001170629.2(CHD8):c.338C>T (p.Ser113Leu)
|
rs530700201
|
0.00004
|
|
NM_001170629.2(CHD8):c.5608G>A (p.Asp1870Asn)
|
rs376095447
|
0.00004
|
|
NM_001171.6(ABCC6):c.3751C>T (p.Pro1251Ser)
|
rs148326870
|
0.00004
|
|
NM_001177316.2(SLC34A3):c.1164A>G (p.Ala388=)
|
rs762986714
|
0.00004
|
|
NM_001177316.2(SLC34A3):c.882G>A (p.Pro294=)
|
rs370122685
|
0.00004
|
|
NM_001182.5(ALDH7A1):c.1017T>C (p.His339=)
|
rs200394848
|
0.00004
|
|
NM_001182.5(ALDH7A1):c.720C>T (p.Asp240=)
|
rs757704473
|
0.00004
|
|
NM_001184.4(ATR):c.7471G>A (p.Val2491Ile)
|
rs556313656
|
0.00004
|
|
NM_001191061.2(SLC25A22):c.726C>T (p.Ala242=)
|
rs771026197
|
0.00004
|
|
NM_001191061.2(SLC25A22):c.885C>T (p.Ile295=)
|
rs543285265
|
0.00004
|
|
NM_001193315.2(VIPAS39):c.632-9G>A
|
rs370850533
|
0.00004
|
|
NM_001197104.2(KMT2A):c.7004C>T (p.Ala2335Val)
|
rs188435877
|
0.00004
|
|
NM_001197104.2(KMT2A):c.7255G>A (p.Glu2419Lys)
|
rs782181274
|
0.00004
|
|
NM_001199107.2(TBC1D24):c.606G>A (p.Ser202=)
|
rs61731478
|
0.00004
|
|
NM_001199397.3(NEK1):c.3135T>C (p.Ser1045=)
|
rs370713361
|
0.00004
|
|
NM_001199397.3(NEK1):c.3622G>A (p.Asp1208Asn)
|
rs35503975
|
0.00004
|
|
NM_001199397.3(NEK1):c.3715-6G>C
|
rs771507979
|
0.00004
|
|
NM_001203.3(BMPR1B):c.43A>G (p.Lys15Glu)
|
rs1346115955
|
0.00004
|
|
NM_001206979.2(NR1H4):c.302C>T (p.Thr101Ile)
|
rs200146597
|
0.00004
|
|
NM_001206979.2(NR1H4):c.963T>C (p.Ile321=)
|
rs757460153
|
0.00004
|
|
NM_001242957.3(MAK):c.1128C>T (p.Val376=)
|
rs768120333
|
0.00004
|
|
NM_001242957.3(MAK):c.867A>G (p.Val289=)
|
rs147570352
|
0.00004
|
|
NM_001243133.2(NLRP3):c.2761A>G (p.Thr921Ala)
|
rs200089542
|
0.00004
|
|
NM_001243177.4(ALDOA):c.312G>A (p.Glu104=)
|
rs779556052
|
0.00004
|
|
NM_001243279.3(ACSF3):c.1242G>A (p.Val414=)
|
rs766713747
|
0.00004
|
|
NM_001243279.3(ACSF3):c.666+9C>T
|
rs767663198
|
0.00004
|
|
NM_001243279.3(ACSF3):c.726C>T (p.Leu242=)
|
rs377354800
|
0.00004
|
|
NM_001243279.3(ACSF3):c.936C>T (p.His312=)
|
rs202119269
|
0.00004
|
|
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His)
|
rs386834010
|
0.00004
|
|
NM_001244710.2(GFPT1):c.327C>T (p.Pro109=)
|
rs537066687
|
0.00004
|
|
NM_001252024.2(TRPM1):c.1285C>A (p.Pro429Thr)
|
rs374376006
|
0.00004
|
|
NM_001256447.2(BCAP31):c.517G>T (p.Ala173Ser)
|
rs782683945
|
0.00004
|
|
NM_001267550.2(TTN):c.100384G>A (p.Glu33462Lys)
|
rs748104690
|
0.00004
|
|
NM_001267550.2(TTN):c.101037G>A (p.Gln33679=)
|
rs377190399
|
0.00004
|
|
NM_001267550.2(TTN):c.102275G>A (p.Arg34092His)
|
rs757918924
|
0.00004
|
|
NM_001267550.2(TTN):c.102827G>A (p.Arg34276Gln)
|
rs199932621
|
0.00004
|
|
NM_001267550.2(TTN):c.103580T>C (p.Ile34527Thr)
|
rs370618537
|
0.00004
|
|
NM_001267550.2(TTN):c.103658T>C (p.Ile34553Thr)
|
rs727505196
|
0.00004
|
|
NM_001267550.2(TTN):c.104978C>T (p.Thr34993Met)
|
rs368945564
|
0.00004
|
|
NM_001267550.2(TTN):c.105512C>T (p.Thr35171Ile)
|
rs774524898
|
0.00004
|
|
NM_001267550.2(TTN):c.105608T>C (p.Val35203Ala)
|
rs771136390
|
0.00004
|
|
NM_001267550.2(TTN):c.105719G>A (p.Arg35240Gln)
|
rs530537991
|
0.00004
|
|
NM_001267550.2(TTN):c.106858G>A (p.Glu35620Lys)
|
rs377593605
|
0.00004
|
|
NM_001267550.2(TTN):c.106927G>A (p.Val35643Ile)
|
rs754459138
|
0.00004
|
|
NM_001267550.2(TTN):c.107591T>C (p.Val35864Ala)
|
rs374859388
|
0.00004
|
|
NM_001267550.2(TTN):c.11063T>C (p.Phe3688Ser)
|
rs377296133
|
0.00004
|
|
NM_001267550.2(TTN):c.11066T>C (p.Ile3689Thr)
|
rs527924868
|
0.00004
|
|
NM_001267550.2(TTN):c.11910A>T (p.Thr3970=)
|
rs727503660
|
0.00004
|
|
NM_001267550.2(TTN):c.13618G>A (p.Val4540Met)
|
rs201046911
|
0.00004
|
|
NM_001267550.2(TTN):c.14119G>A (p.Glu4707Lys)
|
rs749584249
|
0.00004
|
|
NM_001267550.2(TTN):c.14189G>A (p.Arg4730Gln)
|
rs202017278
|
0.00004
|
|
NM_001267550.2(TTN):c.1447G>A (p.Ala483Thr)
|
rs34337578
|
0.00004
|
|
NM_001267550.2(TTN):c.15822A>T (p.Ala5274=)
|
rs779456916
|
0.00004
|
|
NM_001267550.2(TTN):c.16010A>G (p.Asn5337Ser)
|
rs752924679
|
0.00004
|
|
NM_001267550.2(TTN):c.16056T>C (p.Asp5352=)
|
rs376820575
|
0.00004
|
|
NM_001267550.2(TTN):c.1616T>A (p.Ile539Asn)
|
rs774503024
|
0.00004
|
|
NM_001267550.2(TTN):c.1640A>G (p.Gln547Arg)
|
rs774937703
|
0.00004
|
|
NM_001267550.2(TTN):c.17833T>C (p.Ser5945Pro)
|
rs776790387
|
0.00004
|
|
NM_001267550.2(TTN):c.18037T>C (p.Tyr6013His)
|
rs548015673
|
0.00004
|
|
NM_001267550.2(TTN):c.18561G>A (p.Ala6187=)
|
rs377556808
|
0.00004
|
|
NM_001267550.2(TTN):c.18655G>A (p.Glu6219Lys)
|
rs72648948
|
0.00004
|
|
NM_001267550.2(TTN):c.19180G>C (p.Val6394Leu)
|
rs370515485
|
0.00004
|
|
NM_001267550.2(TTN):c.19677A>C (p.Ala6559=)
|
rs372654116
|
0.00004
|
|
NM_001267550.2(TTN):c.197C>T (p.Thr66Met)
|
rs372755739
|
0.00004
|
|
NM_001267550.2(TTN):c.20057G>A (p.Arg6686Gln)
|
rs202022304
|
0.00004
|
|
NM_001267550.2(TTN):c.21003A>G (p.Lys7001=)
|
rs727504579
|
0.00004
|
|
NM_001267550.2(TTN):c.21544C>T (p.Arg7182Trp)
|
rs727504736
|
0.00004
|
|
NM_001267550.2(TTN):c.21785C>G (p.Thr7262Ser)
|
rs200954184
|
0.00004
|
|
NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu)
|
rs183482849
|
0.00004
|
|
NM_001267550.2(TTN):c.22575T>A (p.Asp7525Glu)
|
rs200061856
|
0.00004
|
|
NM_001267550.2(TTN):c.23067C>T (p.Asp7689=)
|
rs191854953
|
0.00004
|
|
NM_001267550.2(TTN):c.23444G>A (p.Arg7815Gln)
|
rs372804810
|
0.00004
|
|
NM_001267550.2(TTN):c.2358C>G (p.His786Gln)
|
rs199507913
|
0.00004
|
|
NM_001267550.2(TTN):c.2386G>A (p.Asp796Asn)
|
rs766935265
|
0.00004
|
|
NM_001267550.2(TTN):c.24107C>T (p.Ser8036Leu)
|
rs200598509
|
0.00004
|
|
NM_001267550.2(TTN):c.24454G>A (p.Val8152Ile)
|
rs397517507
|
0.00004
|
|
NM_001267550.2(TTN):c.26148A>G (p.Lys8716=)
|
rs778772942
|
0.00004
|
|
NM_001267550.2(TTN):c.27847G>A (p.Val9283Met)
|
rs727504515
|
0.00004
|
|
NM_001267550.2(TTN):c.28093C>T (p.Arg9365Trp)
|
rs190600127
|
0.00004
|
|
NM_001267550.2(TTN):c.28094G>A (p.Arg9365Gln)
|
rs570608843
|
0.00004
|
|
NM_001267550.2(TTN):c.28299C>G (p.Asp9433Glu)
|
rs372608982
|
0.00004
|
|
NM_001267550.2(TTN):c.2854G>C (p.Val952Leu)
|
rs373848402
|
0.00004
|
|
NM_001267550.2(TTN):c.28924A>G (p.Ser9642Gly)
|
rs367888853
|
0.00004
|
|
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys)
|
rs375266859
|
0.00004
|
|
NM_001267550.2(TTN):c.30088C>T (p.Pro10030Ser)
|
rs368531555
|
0.00004
|
|
NM_001267550.2(TTN):c.30283G>A (p.Ala10095Thr)
|
rs201635835
|
0.00004
|
|
NM_001267550.2(TTN):c.3103T>G (p.Ser1035Ala)
|
rs762133521
|
0.00004
|
|
NM_001267550.2(TTN):c.31070A>G (p.His10357Arg)
|
rs1343660563
|
0.00004
|
|
NM_001267550.2(TTN):c.31156G>A (p.Glu10386Lys)
|
rs772195716
|
0.00004
|
|
NM_001267550.2(TTN):c.31174G>A (p.Glu10392Lys)
|
rs187792775
|
0.00004
|
|
NM_001267550.2(TTN):c.31518C>T (p.Pro10506=)
|
rs746912694
|
0.00004
|
|
NM_001267550.2(TTN):c.32482C>T (p.Pro10828Ser)
|
rs746685110
|
0.00004
|
|
NM_001267550.2(TTN):c.35268G>A (p.Pro11756=)
|
rs778338717
|
0.00004
|
|
NM_001267550.2(TTN):c.36776C>T (p.Ala12259Val)
|
rs755562550
|
0.00004
|
|
NM_001267550.2(TTN):c.3680A>G (p.Lys1227Arg)
|
rs541811273
|
0.00004
|
|
NM_001267550.2(TTN):c.39235G>A (p.Val13079Ile)
|
rs777119867
|
0.00004
|
|
NM_001267550.2(TTN):c.39578A>G (p.Glu13193Gly)
|
rs190461403
|
0.00004
|
|
NM_001267550.2(TTN):c.40557C>T (p.Ser13519=)
|
rs371178429
|
0.00004
|
|
NM_001267550.2(TTN):c.41744C>T (p.Ala13915Val)
|
rs371426048
|
0.00004
|
|
NM_001267550.2(TTN):c.41920G>A (p.Val13974Ile)
|
rs373881831
|
0.00004
|
|
NM_001267550.2(TTN):c.42383G>C (p.Gly14128Ala)
|
rs370793851
|
0.00004
|
|
NM_001267550.2(TTN):c.42672G>T (p.Leu14224=)
|
rs368155350
|
0.00004
|
|
NM_001267550.2(TTN):c.4274C>T (p.Ala1425Val)
|
rs746063269
|
0.00004
|
|
NM_001267550.2(TTN):c.42847C>T (p.Arg14283Cys)
|
rs199684560
|
0.00004
|
|
NM_001267550.2(TTN):c.42848G>A (p.Arg14283His)
|
rs767899169
|
0.00004
|
|
NM_001267550.2(TTN):c.4284T>A (p.Ser1428=)
|
rs771454835
|
0.00004
|
|
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His)
|
rs368572799
|
0.00004
|
|
NM_001267550.2(TTN):c.42873G>A (p.Ala14291=)
|
rs370216450
|
0.00004
|
|
NM_001267550.2(TTN):c.43019T>C (p.Ile14340Thr)
|
rs397517571
|
0.00004
|
|
NM_001267550.2(TTN):c.44418C>T (p.Ser14806=)
|
rs368005198
|
0.00004
|
|
NM_001267550.2(TTN):c.45054G>A (p.Ala15018=)
|
rs781392140
|
0.00004
|
|
NM_001267550.2(TTN):c.45212T>C (p.Ile15071Thr)
|
rs184078045
|
0.00004
|
|
NM_001267550.2(TTN):c.45652C>T (p.Arg15218Trp)
|
rs371621174
|
0.00004
|
|
NM_001267550.2(TTN):c.45760A>T (p.Ile15254Phe)
|
rs72677226
|
0.00004
|
|
NM_001267550.2(TTN):c.46363G>A (p.Asp15455Asn)
|
rs370813526
|
0.00004
|
|
NM_001267550.2(TTN):c.46489G>T (p.Val15497Phe)
|
rs371299188
|
0.00004
|
|
NM_001267550.2(TTN):c.46591G>A (p.Gly15531Arg)
|
rs761815745
|
0.00004
|
|
NM_001267550.2(TTN):c.47089C>T (p.Arg15697Cys)
|
rs780334981
|
0.00004
|
|
NM_001267550.2(TTN):c.47129G>A (p.Arg15710His)
|
rs185689179
|
0.00004
|
|
NM_001267550.2(TTN):c.47217C>T (p.Gly15739=)
|
rs373305832
|
0.00004
|
|
NM_001267550.2(TTN):c.48395G>A (p.Arg16132His)
|
rs397517593
|
0.00004
|
|
NM_001267550.2(TTN):c.48571A>G (p.Ile16191Val)
|
rs747433688
|
0.00004
|
|
NM_001267550.2(TTN):c.49263C>T (p.Tyr16421=)
|
rs376188859
|
0.00004
|
|
NM_001267550.2(TTN):c.51249C>A (p.Val17083=)
|
rs377342233
|
0.00004
|
|
NM_001267550.2(TTN):c.5255G>A (p.Arg1752His)
|
rs150737838
|
0.00004
|
|
NM_001267550.2(TTN):c.5264A>G (p.Asn1755Ser)
|
rs201904897
|
0.00004
|
|
NM_001267550.2(TTN):c.54115G>A (p.Asp18039Asn)
|
rs765148928
|
0.00004
|
|
NM_001267550.2(TTN):c.54348A>T (p.Glu18116Asp)
|
rs773746281
|
0.00004
|
|
NM_001267550.2(TTN):c.54360T>C (p.Thr18120=)
|
rs749248039
|
0.00004
|
|
NM_001267550.2(TTN):c.54477C>G (p.Val18159=)
|
rs374335905
|
0.00004
|
|
NM_001267550.2(TTN):c.55213C>T (p.Arg18405Cys)
|
rs199656264
|
0.00004
|
|
NM_001267550.2(TTN):c.5582G>A (p.Arg1861His)
|
rs140914855
|
0.00004
|
|
NM_001267550.2(TTN):c.56640C>A (p.Asn18880Lys)
|
rs200544272
|
0.00004
|
|
NM_001267550.2(TTN):c.56686G>A (p.Val18896Met)
|
rs370629962
|
0.00004
|
|
NM_001267550.2(TTN):c.56884C>T (p.Arg18962Trp)
|
rs556286196
|
0.00004
|
|
NM_001267550.2(TTN):c.57501T>C (p.Asn19167=)
|
rs780536141
|
0.00004
|
|
NM_001267550.2(TTN):c.57956A>G (p.Tyr19319Cys)
|
rs369082749
|
0.00004
|
|
NM_001267550.2(TTN):c.57971G>A (p.Arg19324Gln)
|
rs186809500
|
0.00004
|
|
NM_001267550.2(TTN):c.58008T>C (p.Asn19336=)
|
rs770525693
|
0.00004
|
|
NM_001267550.2(TTN):c.58426G>A (p.Val19476Ile)
|
rs397517636
|
0.00004
|
|
NM_001267550.2(TTN):c.58470T>A (p.Asp19490Glu)
|
rs374118468
|
0.00004
|
|
NM_001267550.2(TTN):c.58982G>A (p.Gly19661Asp)
|
rs397517640
|
0.00004
|
|
NM_001267550.2(TTN):c.597A>G (p.Val199=)
|
rs144214844
|
0.00004
|
|
NM_001267550.2(TTN):c.60786T>C (p.Pro20262=)
|
rs1217782958
|
0.00004
|
|
NM_001267550.2(TTN):c.61276C>T (p.Leu20426Phe)
|
rs377529060
|
0.00004
|
|
NM_001267550.2(TTN):c.61481T>C (p.Ile20494Thr)
|
rs374845737
|
0.00004
|
|
NM_001267550.2(TTN):c.61588C>A (p.Pro20530Thr)
|
rs755700079
|
0.00004
|
|
NM_001267550.2(TTN):c.62097A>G (p.Pro20699=)
|
rs774995592
|
0.00004
|
|
NM_001267550.2(TTN):c.62547G>A (p.Thr20849=)
|
rs368969893
|
0.00004
|
|
NM_001267550.2(TTN):c.62825A>G (p.Asn20942Ser)
|
rs769163040
|
0.00004
|
|
NM_001267550.2(TTN):c.63181C>T (p.Pro21061Ser)
|
rs375401971
|
0.00004
|
|
NM_001267550.2(TTN):c.63463C>T (p.Arg21155Cys)
|
rs374727686
|
0.00004
|
|
NM_001267550.2(TTN):c.64959G>A (p.Ala21653=)
|
rs776272431
|
0.00004
|
|
NM_001267550.2(TTN):c.65047C>A (p.Pro21683Thr)
|
rs528707403
|
0.00004
|
|
NM_001267550.2(TTN):c.65173G>A (p.Val21725Ile)
|
rs368716894
|
0.00004
|
|
NM_001267550.2(TTN):c.65649G>T (p.Leu21883Phe)
|
rs374736305
|
0.00004
|
|
NM_001267550.2(TTN):c.66288A>G (p.Glu22096=)
|
rs368297582
|
0.00004
|
|
NM_001267550.2(TTN):c.67147G>A (p.Gly22383Arg)
|
rs372388682
|
0.00004
|
|
NM_001267550.2(TTN):c.67210G>A (p.Val22404Met)
|
rs369257896
|
0.00004
|
|
NM_001267550.2(TTN):c.70039G>C (p.Asp23347His)
|
rs371752797
|
0.00004
|
|
NM_001267550.2(TTN):c.70328G>A (p.Arg23443Gln)
|
rs762529671
|
0.00004
|
|
NM_001267550.2(TTN):c.70570A>G (p.Thr23524Ala)
|
rs369526268
|
0.00004
|
|
NM_001267550.2(TTN):c.70743C>T (p.His23581=)
|
rs375194057
|
0.00004
|
|
NM_001267550.2(TTN):c.70748C>A (p.Thr23583Lys)
|
rs397517687
|
0.00004
|
|
NM_001267550.2(TTN):c.70831G>A (p.Ala23611Thr)
|
rs373765469
|
0.00004
|
|
NM_001267550.2(TTN):c.70833G>A (p.Ala23611=)
|
rs377220635
|
0.00004
|
|
NM_001267550.2(TTN):c.72114G>A (p.Thr24038=)
|
rs768064912
|
0.00004
|
|
NM_001267550.2(TTN):c.72488G>A (p.Arg24163His)
|
rs374712231
|
0.00004
|
|
NM_001267550.2(TTN):c.7331-3C>T
|
rs772008843
|
0.00004
|
|
NM_001267550.2(TTN):c.73517G>A (p.Gly24506Asp)
|
rs567446185
|
0.00004
|
|
NM_001267550.2(TTN):c.73935C>A (p.Gly24645=)
|
rs375726644
|
0.00004
|
|
NM_001267550.2(TTN):c.73937G>A (p.Ser24646Asn)
|
rs370902028
|
0.00004
|
|
NM_001267550.2(TTN):c.74513G>C (p.Gly24838Ala)
|
rs200723435
|
0.00004
|
|
NM_001267550.2(TTN):c.75668C>T (p.Thr25223Ile)
|
rs370070176
|
0.00004
|
|
NM_001267550.2(TTN):c.75969T>C (p.Val25323=)
|
rs368759398
|
0.00004
|
|
NM_001267550.2(TTN):c.75997G>A (p.Gly25333Ser)
|
rs757343393
|
0.00004
|
|
NM_001267550.2(TTN):c.76051T>C (p.Trp25351Arg)
|
rs201839118
|
0.00004
|
|
NM_001267550.2(TTN):c.7619G>A (p.Arg2540His)
|
rs397517725
|
0.00004
|
|
NM_001267550.2(TTN):c.76527C>T (p.Asp25509=)
|
rs780539951
|
0.00004
|
|
NM_001267550.2(TTN):c.77268A>G (p.Ala25756=)
|
rs376372388
|
0.00004
|
|
NM_001267550.2(TTN):c.78039A>C (p.Glu26013Asp)
|
rs755117644
|
0.00004
|
|
NM_001267550.2(TTN):c.7815C>T (p.Tyr2605=)
|
rs184428451
|
0.00004
|
|
NM_001267550.2(TTN):c.78774A>G (p.Arg26258=)
|
rs368270588
|
0.00004
|
|
NM_001267550.2(TTN):c.79251G>C (p.Glu26417Asp)
|
rs369019463
|
0.00004
|
|
NM_001267550.2(TTN):c.79856G>A (p.Arg26619His)
|
rs530507211
|
0.00004
|
|
NM_001267550.2(TTN):c.80083G>T (p.Val26695Leu)
|
rs772729384
|
0.00004
|
|
NM_001267550.2(TTN):c.80586C>T (p.Ser26862=)
|
rs748292845
|
0.00004
|
|
NM_001267550.2(TTN):c.80905G>A (p.Val26969Ile)
|
rs377667066
|
0.00004
|
|
NM_001267550.2(TTN):c.81147T>C (p.Ala27049=)
|
rs765706611
|
0.00004
|
|
NM_001267550.2(TTN):c.83580G>A (p.Val27860=)
|
rs200096597
|
0.00004
|
|
NM_001267550.2(TTN):c.83733C>T (p.Ser27911=)
|
rs375442124
|
0.00004
|
|
NM_001267550.2(TTN):c.83925G>A (p.Lys27975=)
|
rs1031543708
|
0.00004
|
|
NM_001267550.2(TTN):c.84188G>A (p.Arg28063His)
|
rs570847832
|
0.00004
|
|
NM_001267550.2(TTN):c.84385G>T (p.Val28129Phe)
|
rs752974639
|
0.00004
|
|
NM_001267550.2(TTN):c.85723G>A (p.Glu28575Lys)
|
rs760762822
|
0.00004
|
|
NM_001267550.2(TTN):c.8640G>A (p.Glu2880=)
|
rs879222360
|
0.00004
|
|
NM_001267550.2(TTN):c.86538A>T (p.Pro28846=)
|
rs747423090
|
0.00004
|
|
NM_001267550.2(TTN):c.86910C>T (p.Gly28970=)
|
rs397517736
|
0.00004
|
|
NM_001267550.2(TTN):c.86949A>G (p.Glu28983=)
|
rs375565646
|
0.00004
|
|
NM_001267550.2(TTN):c.87495C>T (p.Asp29165=)
|
rs371763584
|
0.00004
|
|
NM_001267550.2(TTN):c.88513C>T (p.Arg29505Cys)
|
rs372360369
|
0.00004
|
|
NM_001267550.2(TTN):c.88523G>A (p.Ser29508Asn)
|
rs1314571330
|
0.00004
|
|
NM_001267550.2(TTN):c.88591C>T (p.Leu29531Phe)
|
rs371483198
|
0.00004
|
|
NM_001267550.2(TTN):c.8937C>T (p.Asn2979=)
|
rs368525666
|
0.00004
|
|
NM_001267550.2(TTN):c.89906T>C (p.Val29969Ala)
|
rs201220828
|
0.00004
|
|
NM_001267550.2(TTN):c.90237C>T (p.His30079=)
|
rs756663688
|
0.00004
|
|
NM_001267550.2(TTN):c.9050G>A (p.Arg3017Lys)
|
rs372303620
|
0.00004
|
|
NM_001267550.2(TTN):c.90748G>A (p.Glu30250Lys)
|
rs200651247
|
0.00004
|
|
NM_001267550.2(TTN):c.90786C>T (p.Ile30262=)
|
rs727504439
|
0.00004
|
|
NM_001267550.2(TTN):c.9154T>C (p.Tyr3052His)
|
rs763833161
|
0.00004
|
|
NM_001267550.2(TTN):c.91749C>T (p.Ser30583=)
|
rs886044458
|
0.00004
|
|
NM_001267550.2(TTN):c.93724C>T (p.Arg31242Cys)
|
rs563887822
|
0.00004
|
|
NM_001267550.2(TTN):c.9402C>T (p.Asn3134=)
|
rs587780987
|
0.00004
|
|
NM_001267550.2(TTN):c.9443G>A (p.Arg3148His)
|
rs368786036
|
0.00004
|
|
NM_001267550.2(TTN):c.94507G>A (p.Ala31503Thr)
|
rs375657115
|
0.00004
|
|
NM_001267550.2(TTN):c.94664G>A (p.Arg31555His)
|
rs727503545
|
0.00004
|
|
NM_001267550.2(TTN):c.95395A>G (p.Ile31799Val)
|
rs370916420
|
0.00004
|
|
NM_001267550.2(TTN):c.96140C>T (p.Thr32047Met)
|
rs375640847
|
0.00004
|
|
NM_001267550.2(TTN):c.96225T>A (p.Val32075=)
|
rs752745266
|
0.00004
|
|
NM_001267550.2(TTN):c.97396G>A (p.Glu32466Lys)
|
rs55915651
|
0.00004
|
|
NM_001267550.2(TTN):c.9749T>G (p.Val3250Gly)
|
rs55634230
|
0.00004
|
|
NM_001267550.2(TTN):c.97717C>T (p.Arg32573Cys)
|
rs569593251
|
0.00004
|
|
NM_001267550.2(TTN):c.97973G>A (p.Arg32658Gln)
|
rs769581585
|
0.00004
|
|
NM_001267550.2(TTN):c.98021G>A (p.Arg32674His)
|
rs750969198
|
0.00004
|
|
NM_001267550.2(TTN):c.9827A>G (p.Glu3276Gly)
|
rs377049518
|
0.00004
|
|
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser)
|
rs367979582
|
0.00004
|
|
NM_001267550.2(TTN):c.98750C>T (p.Ser32917Phe)
|
rs561932256
|
0.00004
|
|
NM_001267727.2(ARSG):c.1501G>A (p.Ala501Thr)
|
rs202165247
|
0.00004
|
|
NM_001276345.2(TNNT2):c.720-5T>G
|
rs730881092
|
0.00004
|
|
NM_001276345.2(TNNT2):c.720-7C>T
|
rs376303087
|
0.00004
|
|
NM_001277115.2(DNAH11):c.11267G>A (p.Arg3756His)
|
rs554657293
|
0.00004
|
|
NM_001277115.2(DNAH11):c.1700C>G (p.Ala567Gly)
|
rs545970834
|
0.00004
|
|
NM_001277115.2(DNAH11):c.2156A>G (p.Asn719Ser)
|
rs551038953
|
0.00004
|
|
NM_001277115.2(DNAH11):c.2547A>G (p.Leu849=)
|
rs535761458
|
0.00004
|
|
NM_001277115.2(DNAH11):c.4884C>G (p.Phe1628Leu)
|
rs762090852
|
0.00004
|
|
NM_001277115.2(DNAH11):c.6683+16_6683+18del
|
rs750498878
|
0.00004
|
|
NM_001278116.2(L1CAM):c.338G>A (p.Arg113His)
|
rs781908326
|
0.00004
|
|
NM_001278116.2(L1CAM):c.367G>A (p.Ala123Thr)
|
rs782752037
|
0.00004
|
|
NM_001283009.2(RTEL1):c.2428G>A (p.Gly810Arg)
|
rs545613984
|
0.00004
|
|
NM_001283009.2(RTEL1):c.2999C>T (p.Thr1000Met)
|
rs201560152
|
0.00004
|
|
NM_001286577.2(C2CD3):c.3929T>C (p.Ile1310Thr)
|
rs757220593
|
0.00004
|
|
NM_001286577.2(C2CD3):c.5612T>G (p.Leu1871Arg)
|
rs766845407
|
0.00004
|
|
NM_001287.6(CLCN7):c.1226G>A (p.Arg409Gln)
|
rs780959736
|
0.00004
|
|
NM_001288705.3(CSF1R):c.924C>G (p.Asn308Lys)
|
rs747597752
|
0.00004
|
|
NM_001291303.3(FAT4):c.12768C>T (p.Ser4256=)
|
rs1006074076
|
0.00004
|
|
NM_001291867.2(NHS):c.2663T>C (p.Met888Thr)
|
rs200321491
|
0.00004
|
|
NM_001297.5(CNGB1):c.291-5C>T
|
rs372308762
|
0.00004
|
|
NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser)
|
rs387906769
|
0.00004
|
|
NM_001322934.2(NFKB2):c.1938G>A (p.Glu646=)
|
rs563687760
|
0.00004
|
|
NM_001323289.2(CDKL5):c.2465G>A (p.Arg822His)
|
rs376429571
|
0.00004
|
|
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=)
|
rs140332992
|
0.00004
|
|
NM_001330078.2(NRXN1):c.1857A>G (p.Pro619=)
|
rs1324701043
|
0.00004
|
|
NM_001330078.2(NRXN1):c.3384T>C (p.Phe1128=)
|
rs751894635
|
0.00004
|
|
NM_001330078.2(NRXN1):c.3675G>A (p.Thr1225=)
|
rs200179221
|
0.00004
|
|
NM_001330078.2(NRXN1):c.4236C>T (p.Gly1412=)
|
rs587781101
|
0.00004
|
|
NM_001330078.2(NRXN1):c.492C>T (p.Ala164=)
|
rs201180707
|
0.00004
|
|
NM_001330260.2(SCN8A):c.402T>C (p.Phe134=)
|
rs559668426
|
0.00004
|
|
NM_001330260.2(SCN8A):c.95G>A (p.Ser32Asn)
|
rs375419028
|
0.00004
|
|
NM_001330311.2(DVL1):c.1282G>C (p.Gly428Arg)
|
rs201616962
|
0.00004
|
|
NM_001330360.2(POLA1):c.3955A>G (p.Ile1319Val)
|
rs756416451
|
0.00004
|
|
NM_001330360.2(POLA1):c.455C>T (p.Thr152Ile)
|
rs767564863
|
0.00004
|
|
NM_001330588.2(TPP2):c.495+4G>C
|
rs376579048
|
0.00004
|
|
NM_001330691.3(CEP78):c.2107+10C>G
|
rs374257343
|
0.00004
|
|
NM_001347721.2(DYRK1A):c.1509G>A (p.Ser503=)
|
rs763907769
|
0.00004
|
|
NM_001349253.2(SCN11A):c.1986A>G (p.Gln662=)
|
rs746550786
|
0.00004
|
|
NM_001349338.3(FOXP1):c.1359G>A (p.Ala453=)
|
rs766683691
|
0.00004
|
|
NM_001349338.3(FOXP1):c.1383C>T (p.Asn461=)
|
rs372403441
|
0.00004
|
|
NM_001352514.2(HLCS):c.494-9A>G
|
rs376397597
|
0.00004
|
|
NM_001352514.2(HLCS):c.574C>G (p.Pro192Ala)
|
rs200950813
|
0.00004
|
|
NM_001352514.2(HLCS):c.918A>G (p.Gly306=)
|
rs767988985
|
0.00004
|
|
NM_001352754.2(ARMC9):c.2432C>T (p.Pro811Leu)
|
rs564939247
|
0.00004
|
|
NM_001353921.2(ARHGEF9):c.372C>T (p.His124=)
|
rs138198839
|
0.00004
|
|
NM_001358530.2(MOCS1):c.583+7G>A
|
rs150131853
|
0.00004
|
|
NM_001360.3(DHCR7):c.1091C>T (p.Thr364Met)
|
rs567600444
|
0.00004
|
|
NM_001360016.2(G6PD):c.1329C>T (p.Asp443=)
|
rs138919671
|
0.00004
|
|
NM_001363.5(DKC1):c.55C>T (p.Arg19Trp)
|
rs782010351
|
0.00004
|
|
NM_001363711.2(DUOX2):c.4046C>G (p.Ser1349Cys)
|
rs768030115
|
0.00004
|
|
NM_001364171.2(ODAD1):c.1313G>A (p.Ser438Asn)
|
rs201757586
|
0.00004
|
|
NM_001365088.1(SLC12A6):c.1008C>T (p.Gly336=)
|
rs770742608
|
0.00004
|
|
NM_001365536.1(SCN9A):c.1793G>A (p.Arg598His)
|
rs201318927
|
0.00004
|
|
NM_001365999.1(SZT2):c.10156-13G>A
|
rs554300793
|
0.00004
|
|
NM_001365999.1(SZT2):c.1272A>G (p.Gln424=)
|
rs780157180
|
0.00004
|
|
NM_001365999.1(SZT2):c.9629G>A (p.Arg3210His)
|
rs371193436
|
0.00004
|
|
NM_001367624.2(ZNF469):c.11216G>A (p.Arg3739His)
|
rs958618412
|
0.00004
|
|
NM_001367624.2(ZNF469):c.4223C>T (p.Pro1408Leu)
|
rs770568316
|
0.00004
|
|
NM_001367624.2(ZNF469):c.4433C>G (p.Ser1478Cys)
|
rs751396157
|
0.00004
|
|
NM_001367624.2(ZNF469):c.4849C>T (p.Pro1617Ser)
|
rs557351664
|
0.00004
|
|
NM_001367624.2(ZNF469):c.5828G>A (p.Gly1943Asp)
|
rs923668514
|
0.00004
|
|
NM_001367624.2(ZNF469):c.5967C>T (p.Ala1989=)
|
rs955767732
|
0.00004
|
|
NM_001367624.2(ZNF469):c.6322G>A (p.Gly2108Arg)
|
rs749986676
|
0.00004
|
|
NM_001367624.2(ZNF469):c.793G>A (p.Gly265Ser)
|
rs754776767
|
0.00004
|
|
NM_001367624.2(ZNF469):c.7975G>A (p.Gly2659Arg)
|
rs370043591
|
0.00004
|
|
NM_001367624.2(ZNF469):c.9327G>C (p.Lys3109Asn)
|
rs369198557
|
0.00004
|
|
NM_001367721.1(CASK):c.2470C>T (p.Arg824Trp)
|
rs369792621
|
0.00004
|
|
NM_001368397.1(FRMPD4):c.2048A>G (p.Glu683Gly)
|
rs760597864
|
0.00004
|
|
NM_001368397.1(FRMPD4):c.3938G>A (p.Arg1313Gln)
|
rs759503727
|
0.00004
|
|
NM_001369.3(DNAH5):c.10378G>A (p.Val3460Met)
|
rs200012281
|
0.00004
|
|
NM_001369.3(DNAH5):c.10774A>C (p.Ile3592Leu)
|
rs758395320
|
0.00004
|
|
NM_001369.3(DNAH5):c.12209C>T (p.Thr4070Ile)
|
rs746662023
|
0.00004
|
|
NM_001369.3(DNAH5):c.12217G>A (p.Val4073Met)
|
rs757109346
|
0.00004
|
|
NM_001369.3(DNAH5):c.12558C>T (p.Tyr4186=)
|
rs748817131
|
0.00004
|
|
NM_001369.3(DNAH5):c.13502G>A (p.Arg4501Gln)
|
rs781267941
|
0.00004
|
|
NM_001369.3(DNAH5):c.1982G>A (p.Arg661His)
|
rs185855852
|
0.00004
|
|
NM_001369.3(DNAH5):c.2462A>G (p.Asn821Ser)
|
rs750670743
|
0.00004
|
|
NM_001369.3(DNAH5):c.4139G>A (p.Arg1380Gln)
|
rs779980906
|
0.00004
|
|
NM_001369.3(DNAH5):c.4995C>T (p.Ile1665=)
|
rs748438142
|
0.00004
|
|
NM_001369.3(DNAH5):c.506C>T (p.Ser169Leu)
|
rs749078502
|
0.00004
|
|
NM_001369.3(DNAH5):c.6217A>G (p.Met2073Val)
|
rs752077073
|
0.00004
|
|
NM_001369.3(DNAH5):c.6551T>C (p.Val2184Ala)
|
rs200805455
|
0.00004
|
|
NM_001369.3(DNAH5):c.7475C>T (p.Ala2492Val)
|
rs529080443
|
0.00004
|
|
NM_001369.3(DNAH5):c.7649T>A (p.Leu2550Gln)
|
rs371695477
|
0.00004
|
|
NM_001369.3(DNAH5):c.8273A>C (p.Glu2758Ala)
|
rs527914224
|
0.00004
|
|
NM_001369.3(DNAH5):c.8726G>A (p.Arg2909His)
|
rs756069405
|
0.00004
|
|
NM_001369.3(DNAH5):c.9034A>T (p.Ile3012Phe)
|
rs368476008
|
0.00004
|
|
NM_001369.3(DNAH5):c.9052A>T (p.Ile3018Phe)
|
rs375063617
|
0.00004
|
|
NM_001369.3(DNAH5):c.9218A>G (p.Tyr3073Cys)
|
rs138505566
|
0.00004
|
|
NM_001369.3(DNAH5):c.983G>A (p.Arg328Gln)
|
rs376626613
|
0.00004
|
|
NM_001369268.1(ACAN):c.1527G>A (p.Ser509=)
|
rs371049725
|
0.00004
|
|
NM_001369369.1(FOXN1):c.1706C>A (p.Ser569Tyr)
|
rs149225004
|
0.00004
|
|
NM_001369369.1(FOXN1):c.987C>T (p.Phe329=)
|
rs184956155
|
0.00004
|
|
NM_001370259.2(MEN1):c.1098A>T (p.Glu366Asp)
|
rs149383809
|
0.00004
|
|
NM_001370259.2(MEN1):c.1594G>T (p.Gly532Cys)
|
rs587780843
|
0.00004
|
|
NM_001370259.2(MEN1):c.774G>C (p.Gln258His)
|
rs374659656
|
0.00004
|
|
NM_001370259.2(MEN1):c.941G>A (p.Arg314Gln)
|
rs771645621
|
0.00004
|
|
NM_001370466.1(NOD2):c.1894G>A (p.Val632Met)
|
rs570167996
|
0.00004
|
|
NM_001370466.1(NOD2):c.2631G>A (p.Leu877=)
|
rs142559533
|
0.00004
|
|
NM_001370658.1(BTD):c.1536G>A (p.Thr512=)
|
rs774052068
|
0.00004
|
|
NM_001371623.1(TCOF1):c.2575C>G (p.Gln859Glu)
|
rs201043592
|
0.00004
|
|
NM_001371928.1(AHDC1):c.1037G>A (p.Arg346His)
|
rs774177833
|
0.00004
|
|
NM_001371928.1(AHDC1):c.2182C>T (p.Arg728Trp)
|
rs201595662
|
0.00004
|
|
NM_001371928.1(AHDC1):c.3630G>T (p.Glu1210Asp)
|
rs371337420
|
0.00004
|
|
NM_001371928.1(AHDC1):c.575G>A (p.Arg192Gln)
|
rs752497243
|
0.00004
|
|
NM_001371986.1(UNC80):c.9179T>C (p.Ile3060Thr)
|
rs1001497433
|
0.00004
|
|
NM_001372066.1(TFAP2A):c.539-3C>T
|
rs757530487
|
0.00004
|
|
NM_001374353.1(GLI2):c.413C>T (p.Thr138Met)
|
rs148317983
|
0.00004
|
|
NM_001374353.1(GLI2):c.4571C>A (p.Ser1524Tyr)
|
rs199887024
|
0.00004
|
|
NM_001374353.1(GLI2):c.606C>T (p.Ser202=)
|
rs146181686
|
0.00004
|
|
NM_001374385.1(ATP8B1):c.1659C>T (p.Pro553=)
|
rs761202112
|
0.00004
|
|
NM_001374385.1(ATP8B1):c.1754A>G (p.Glu585Gly)
|
rs35238397
|
0.00004
|
|
NM_001374385.1(ATP8B1):c.2100C>T (p.Leu700=)
|
rs747771646
|
0.00004
|
|
NM_001374385.1(ATP8B1):c.3201C>T (p.Ser1067=)
|
rs777459332
|
0.00004
|
|
NM_001374828.1(ARID1B):c.1712C>G (p.Pro571Arg)
|
rs769085274
|
0.00004
|
|
NM_001374828.1(ARID1B):c.4509C>T (p.Tyr1503=)
|
rs377021700
|
0.00004
|
|
NM_001374828.1(ARID1B):c.4829C>T (p.Ala1610Val)
|
rs370838091
|
0.00004
|
|
NM_001376.5(DYNC1H1):c.10896C>A (p.Pro3632=)
|
rs200903643
|
0.00004
|
|
NM_001376.5(DYNC1H1):c.11873G>T (p.Gly3958Val)
|
rs150118849
|
0.00004
|
|
NM_001376.5(DYNC1H1):c.13152G>A (p.Ala4384=)
|
rs536121075
|
0.00004
|
|
NM_001376.5(DYNC1H1):c.4484A>G (p.Asn1495Ser)
|
rs566164007
|
0.00004
|
|
NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His)
|
rs912429154
|
0.00004
|
|
NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=)
|
rs375687099
|
0.00004
|
|
NM_001376.5(DYNC1H1):c.7821C>T (p.Ser2607=)
|
rs375547282
|
0.00004
|
|
NM_001376.5(DYNC1H1):c.8637+9C>T
|
rs202042156
|
0.00004
|
|
NM_001377.3(DYNC2H1):c.11929A>C (p.Ile3977Leu)
|
rs757571550
|
0.00004
|
|
NM_001377265.1(MAPT):c.601C>T (p.Pro201Ser)
|
rs776821664
|
0.00004
|
|
NM_001378120.1(MBD5):c.3952G>A (p.Val1318Ile)
|
rs199626531
|
0.00004
|
|
NM_001378120.1(MBD5):c.4088T>C (p.Ile1363Thr)
|
rs748142226
|
0.00004
|
|
NM_001378120.1(MBD5):c.4505A>G (p.Tyr1502Cys)
|
rs773873513
|
0.00004
|
|
NM_001378120.1(MBD5):c.4970C>A (p.Pro1657His)
|
rs775673512
|
0.00004
|
|
NM_001378120.1(MBD5):c.796A>G (p.Ile266Val)
|
rs568826753
|
0.00004
|
|
NM_001378120.1(MBD5):c.980T>C (p.Met327Thr)
|
rs776228346
|
0.00004
|
|
NM_001378452.1(ITPR1):c.2107G>A (p.Asp703Asn)
|
rs185464679
|
0.00004
|
|
NM_001378452.1(ITPR1):c.3494C>T (p.Thr1165Met)
|
rs755486931
|
0.00004
|
|
NM_001378452.1(ITPR1):c.3564+5G>T
|
rs371420259
|
0.00004
|
|
NM_001378452.1(ITPR1):c.4068C>T (p.Asn1356=)
|
rs542486327
|
0.00004
|
|
NM_001378454.1(ALMS1):c.11463G>A (p.Glu3821=)
|
rs750087396
|
0.00004
|
|
NM_001378454.1(ALMS1):c.12037G>A (p.Gly4013Ser)
|
rs541576664
|
0.00004
|
|
NM_001378454.1(ALMS1):c.451-5T>G
|
rs774098604
|
0.00004
|
|
NM_001378454.1(ALMS1):c.6087T>C (p.Thr2029=)
|
rs199967386
|
0.00004
|
|
NM_001378454.1(ALMS1):c.6926C>T (p.Thr2309Met)
|
rs147001219
|
0.00004
|
|
NM_001378454.1(ALMS1):c.7441G>A (p.Ala2481Thr)
|
rs760068474
|
0.00004
|
|
NM_001378454.1(ALMS1):c.8109G>A (p.Pro2703=)
|
rs759983484
|
0.00004
|
|
NM_001378454.1(ALMS1):c.9782-19C>A
|
rs777706370
|
0.00004
|
|
NM_001378609.3(OTOGL):c.6122-8C>A
|
rs373997499
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.1116C>A (p.Ser372Arg)
|
rs760839591
|
0.00004
|
|
NM_001378615.1(CC2D2A):c.3501C>T (p.Asp1167=)
|
rs779304750
|
0.00004
|
|
NM_001378964.1(CDON):c.2567A>G (p.Asn856Ser)
|
rs768131084
|
0.00004
|
|
NM_001378969.1(KCND3):c.1649G>A (p.Arg550His)
|
rs151164490
|
0.00004
|
|
NM_001379081.2(FREM1):c.3932T>C (p.Ile1311Thr)
|
rs182527895
|
0.00004
|
|
NM_001379110.1(SLC9A6):c.15C>G (p.Ile5Met)
|
rs782296172
|
0.00004
|
|
NM_001379110.1(SLC9A6):c.2021C>T (p.Thr674Met)
|
rs886044780
|
0.00004
|
|
NM_001379200.1(TBX1):c.1161C>T (p.Gly387=)
|
rs941116789
|
0.00004
|
|
NM_001379500.1(COL18A1):c.651+6C>G
|
rs755778352
|
0.00004
|
|
NM_001384140.1(PCDH15):c.3717+10T>C
|
rs376158566
|
0.00004
|
|
NM_001384474.1(LOXHD1):c.3061+8G>T
|
rs764128579
|
0.00004
|
|
NM_001384474.1(LOXHD1):c.4375+7G>A
|
rs763847381
|
0.00004
|
|
NM_001384474.1(LOXHD1):c.5224C>T (p.Arg1742Cys)
|
rs561122654
|
0.00004
|
|
NM_001384732.1(CPLANE1):c.8410C>T (p.Pro2804Ser)
|
rs377107065
|
0.00004
|
|
NM_001386393.1(PANK2):c.18G>A (p.Gly6=)
|
rs750766653
|
0.00004
|
|
NM_001393500.2(TOMT):c.90G>A (p.Thr30=)
|
rs556093010
|
0.00004
|
|
NM_001395413.1(POR):c.1389+15T>A
|
rs782664345
|
0.00004
|
|
NM_001395413.1(POR):c.1661-4G>A
|
rs372733766
|
0.00004
|
|
NM_001395413.1(POR):c.938+10G>A
|
rs781980999
|
0.00004
|
|
NM_001429.4(EP300):c.2419A>G (p.Ile807Val)
|
rs201054979
|
0.00004
|
|
NM_001429.4(EP300):c.4347T>C (p.His1449=)
|
rs137986257
|
0.00004
|
|
NM_001453.3(FOXC1):c.474C>T (p.Ser158=)
|
rs369346224
|
0.00004
|
|
NM_001457.4(FLNB):c.1135A>G (p.Ile379Val)
|
rs374118649
|
0.00004
|
|
NM_001457.4(FLNB):c.1451G>C (p.Ser484Thr)
|
rs199589693
|
0.00004
|
|
NM_001457.4(FLNB):c.1692C>T (p.Val564=)
|
rs749242473
|
0.00004
|
|
NM_001457.4(FLNB):c.2575+12C>T
|
rs750560502
|
0.00004
|
|
NM_001457.4(FLNB):c.2935G>A (p.Val979Met)
|
rs376511120
|
0.00004
|
|
NM_001457.4(FLNB):c.3661A>G (p.Lys1221Glu)
|
rs537630384
|
0.00004
|
|
NM_001457.4(FLNB):c.3767G>A (p.Arg1256Gln)
|
rs148506076
|
0.00004
|
|
NM_001457.4(FLNB):c.3784G>A (p.Gly1262Arg)
|
rs139932035
|
0.00004
|
|
NM_001457.4(FLNB):c.3898+7C>T
|
rs369277252
|
0.00004
|
|
NM_001457.4(FLNB):c.4671+5C>G
|
rs776434196
|
0.00004
|
|
NM_001457.4(FLNB):c.5327T>C (p.Ile1776Thr)
|
rs1343990349
|
0.00004
|
|
NM_001457.4(FLNB):c.5917G>A (p.Glu1973Lys)
|
rs368965386
|
0.00004
|
|
NM_001457.4(FLNB):c.6003C>T (p.Asp2001=)
|
rs184065600
|
0.00004
|
|
NM_001457.4(FLNB):c.6531C>T (p.Thr2177=)
|
rs778562859
|
0.00004
|
|
NM_001458.5(FLNC):c.1261C>T (p.Arg421Trp)
|
rs759075520
|
0.00004
|
|
NM_001458.5(FLNC):c.2450T>C (p.Ile817Thr)
|
rs200653747
|
0.00004
|
|
NM_001458.5(FLNC):c.2737G>A (p.Glu913Lys)
|
rs774707336
|
0.00004
|
|
NM_001458.5(FLNC):c.3133C>A (p.His1045Asn)
|
rs201863231
|
0.00004
|
|
NM_001458.5(FLNC):c.3680C>T (p.Thr1227Ile)
|
rs373573447
|
0.00004
|
|
NM_001458.5(FLNC):c.3722G>A (p.Arg1241His)
|
rs370520806
|
0.00004
|
|
NM_001458.5(FLNC):c.4055G>A (p.Arg1352His)
|
rs746731567
|
0.00004
|
|
NM_001458.5(FLNC):c.6390C>T (p.Gly2130=)
|
rs746751083
|
0.00004
|
|
NM_001458.5(FLNC):c.7229G>A (p.Arg2410His)
|
rs558239439
|
0.00004
|
|
NM_001458.5(FLNC):c.7256C>T (p.Thr2419Met)
|
rs199768217
|
0.00004
|
|
NM_001458.5(FLNC):c.7560C>T (p.Thr2520=)
|
rs527921534
|
0.00004
|
|
NM_001458.5(FLNC):c.7877G>A (p.Ser2626Asn)
|
rs2639142
|
0.00004
|
|
NM_001543.5(NDST1):c.600C>T (p.Ile200=)
|
rs762510239
|
0.00004
|
|
NM_001558.4(IL10RA):c.1539G>A (p.Thr513=)
|
rs372503247
|
0.00004
|
|
NM_001558.4(IL10RA):c.67+15C>T
|
rs886047708
|
0.00004
|
|
NM_001613.4(ACTA2):c.420G>A (p.Ala140=)
|
rs762567614
|
0.00004
|
|
NM_001614.5(ACTG1):c.81C>T (p.Pro27=)
|
rs11549230
|
0.00004
|
|
NM_001673.5(ASNS):c.1593C>A (p.Asp531Glu)
|
rs201432154
|
0.00004
|
|
NM_001734.5(C1S):c.394A>G (p.Ile132Val)
|
rs1198867920
|
0.00004
|
|
NM_001754.4(RUNX1):c.97+4T>G
|
rs754042987
|
0.00004
|
|
NM_001754.5(RUNX1):c.59-12C>G
|
rs202245096
|
0.00004
|
|
NM_001768.7(CD8A):c.188C>G (p.Ala63Gly)
|
rs537395900
|
0.00004
|
|
NM_001770.6(CD19):c.1371C>T (p.Asn457=)
|
rs199570434
|
0.00004
|
|
NM_001793.6(CDH3):c.1011G>C (p.Val337=)
|
rs201726457
|
0.00004
|
|
NM_001822.7(CHN1):c.550-5C>T
|
rs760529847
|
0.00004
|
|
NM_001844.5(COL2A1):c.1018G>A (p.Ala340Thr)
|
rs762355724
|
0.00004
|
|
NM_001844.5(COL2A1):c.2655A>T (p.Gly885=)
|
rs775834995
|
0.00004
|
|
NM_001844.5(COL2A1):c.2764C>T (p.Pro922Ser)
|
rs769590506
|
0.00004
|
|
NM_001844.5(COL2A1):c.3064G>A (p.Val1022Met)
|
rs199642249
|
0.00004
|
|
NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=)
|
rs367982631
|
0.00004
|
|
NM_001844.5(COL2A1):c.3842G>A (p.Arg1281His)
|
rs763097721
|
0.00004
|
|
NM_001844.5(COL2A1):c.816+6C>T
|
rs766892635
|
0.00004
|
|
NM_001845.6(COL4A1):c.1420G>A (p.Gly474Arg)
|
rs752346924
|
0.00004
|
|
NM_001845.6(COL4A1):c.1754G>A (p.Arg585His)
|
rs754034347
|
0.00004
|
|
NM_001845.6(COL4A1):c.2351C>T (p.Pro784Leu)
|
rs372750171
|
0.00004
|
|
NM_001845.6(COL4A1):c.3019C>T (p.Pro1007Ser)
|
rs141418421
|
0.00004
|
|
NM_001845.6(COL4A1):c.3997G>A (p.Asp1333Asn)
|
rs141395813
|
0.00004
|
|
NM_001845.6(COL4A1):c.4640+3G>T
|
rs770167198
|
0.00004
|
|
NM_001846.4(COL4A2):c.1513G>A (p.Ala505Thr)
|
rs753867828
|
0.00004
|
|
NM_001846.4(COL4A2):c.2842G>A (p.Glu948Lys)
|
rs199678709
|
0.00004
|
|
NM_001848.3(COL6A1):c.1575C>T (p.Pro525=)
|
rs781031251
|
0.00004
|
|
NM_001848.3(COL6A1):c.1656C>T (p.Ala552=)
|
rs377213930
|
0.00004
|
|
NM_001848.3(COL6A1):c.2109G>A (p.Thr703=)
|
rs760649238
|
0.00004
|
|
NM_001848.3(COL6A1):c.2148G>A (p.Pro716=)
|
rs780032842
|
0.00004
|
|
NM_001849.4(COL6A2):c.1817-8C>A
|
rs750444649
|
0.00004
|
|
NM_001849.4(COL6A2):c.2153G>A (p.Ser718Asn)
|
rs368641951
|
0.00004
|
|
NM_001849.4(COL6A2):c.219C>T (p.Phe73=)
|
rs374336669
|
0.00004
|
|
NM_001849.4(COL6A2):c.2490G>A (p.Arg830=)
|
rs748047522
|
0.00004
|
|
NM_001849.4(COL6A2):c.735+7G>A
|
rs575365107
|
0.00004
|
|
NM_001852.4(COL9A2):c.792G>A (p.Pro264=)
|
rs764969929
|
0.00004
|
|
NM_001853.4(COL9A3):c.1538C>T (p.Pro513Leu)
|
rs202094480
|
0.00004
|
|
NM_001854.4(COL11A1):c.1408G>C (p.Asp470His)
|
rs752749747
|
0.00004
|
|
NM_001854.4(COL11A1):c.1817C>T (p.Pro606Leu)
|
rs534777436
|
0.00004
|
|
NM_001854.4(COL11A1):c.2295+5C>T
|
rs369103119
|
0.00004
|
|
NM_001854.4(COL11A1):c.2389G>A (p.Asp797Asn)
|
rs762668220
|
0.00004
|
|
NM_001854.4(COL11A1):c.2644C>T (p.Arg882Cys)
|
rs749003514
|
0.00004
|
|
NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile)
|
rs1283924469
|
0.00004
|
|
NM_001854.4(COL11A1):c.2916+3A>G
|
rs200515572
|
0.00004
|
|
NM_001854.4(COL11A1):c.3595C>G (p.Leu1199Val)
|
rs138507620
|
0.00004
|
|
NM_001854.4(COL11A1):c.4377C>T (p.Gly1459=)
|
rs917541931
|
0.00004
|
|
NM_001854.4(COL11A1):c.4627A>C (p.Ile1543Leu)
|
rs558548172
|
0.00004
|
|
NM_001854.4(COL11A1):c.510C>T (p.Ser170=)
|
rs749497678
|
0.00004
|
|
NM_001854.4(COL11A1):c.5144A>T (p.His1715Leu)
|
rs199576799
|
0.00004
|
|
NM_001854.4(COL11A1):c.784G>A (p.Ala262Thr)
|
rs777664906
|
0.00004
|
|
NM_001854.4(COL11A1):c.788C>T (p.Pro263Leu)
|
rs945959591
|
0.00004
|
|
NM_001854.4(COL11A1):c.913G>T (p.Asp305Tyr)
|
rs779346604
|
0.00004
|
|
NM_001875.5(CPS1):c.3757-10A>C
|
rs201251176
|
0.00004
|
|
NM_001875.5(CPS1):c.712-11C>T
|
rs561995236
|
0.00004
|
|
NM_001875.5(CPS1):c.785C>T (p.Ala262Val)
|
rs372217508
|
0.00004
|
|
NM_001876.4(CPT1A):c.145G>A (p.Gly49Ser)
|
rs552007692
|
0.00004
|
|
NM_001904.4(CTNNB1):c.2315A>G (p.Asn772Ser)
|
rs138501547
|
0.00004
|
|
NM_001927.4(DES):c.1158C>T (p.Arg386=)
|
rs774323736
|
0.00004
|
|
NM_001927.4(DES):c.63C>T (p.Ala21=)
|
rs201458068
|
0.00004
|
|
NM_001939.3(DRP2):c.646A>G (p.Thr216Ala)
|
rs749587463
|
0.00004
|
|
NM_001943.5(DSG2):c.-1G>C
|
rs1012160082
|
0.00004
|
|
NM_001943.5(DSG2):c.1063G>A (p.Ala355Thr)
|
rs201046640
|
0.00004
|
|
NM_001943.5(DSG2):c.1688T>G (p.Leu563Arg)
|
rs780469370
|
0.00004
|
|
NM_001943.5(DSG2):c.1920C>T (p.Gly640=)
|
rs775642244
|
0.00004
|
|
NM_001943.5(DSG2):c.2004G>A (p.Val668=)
|
rs773645222
|
0.00004
|
|
NM_001943.5(DSG2):c.2328C>A (p.Phe776Leu)
|
rs771104668
|
0.00004
|
|
NM_001943.5(DSG2):c.2470C>T (p.Arg824Cys)
|
rs201845396
|
0.00004
|
|
NM_001943.5(DSG2):c.2959G>T (p.Val987Phe)
|
rs141405267
|
0.00004
|
|
NM_001943.5(DSG2):c.390C>T (p.Tyr130=)
|
rs369489095
|
0.00004
|
|
NM_001953.5(TYMP):c.647-9C>G
|
rs549324764
|
0.00004
|
|
NM_001966.4(EHHADH):c.144T>C (p.Ile48=)
|
rs370127523
|
0.00004
|
|
NM_001966.4(EHHADH):c.919A>G (p.Thr307Ala)
|
rs185950214
|
0.00004
|
|
NM_001999.4(FBN2):c.1078+12A>C
|
rs769211487
|
0.00004
|
|
NM_001999.4(FBN2):c.1968T>C (p.Cys656=)
|
rs750685055
|
0.00004
|
|
NM_001999.4(FBN2):c.2363G>A (p.Arg788His)
|
rs368116715
|
0.00004
|
|
NM_001999.4(FBN2):c.2555-6T>C
|
rs376507178
|
0.00004
|
|
NM_001999.4(FBN2):c.3342G>A (p.Thr1114=)
|
rs532983875
|
0.00004
|
|
NM_001999.4(FBN2):c.377G>A (p.Arg126His)
|
rs528614556
|
0.00004
|
|
NM_002047.4(GARS1):c.1754T>C (p.Met585Thr)
|
rs374378925
|
0.00004
|
|
NM_002047.4(GARS1):c.787G>A (p.Val263Ile)
|
rs77518956
|
0.00004
|
|
NM_002074.5(GNB1):c.867C>T (p.Tyr289=)
|
rs771603036
|
0.00004
|
|
NM_002098.6(GUCA1B):c.469G>A (p.Gly157Arg)
|
rs121909124
|
0.00004
|
|
NM_002103.5(GYS1):c.303G>A (p.Val101=)
|
rs1391443496
|
0.00004
|
|
NM_002180.3(IGHMBP2):c.1737C>T (p.Phe579=)
|
rs368775789
|
0.00004
|
|
NM_002185.5(IL7R):c.379+8G>A
|
rs111370546
|
0.00004
|
|
NM_002185.5(IL7R):c.800+10T>C
|
rs202114203
|
0.00004
|
|
NM_002187.3(IL12B):c.960C>T (p.Ser320=)
|
rs752964137
|
0.00004
|
|
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn)
|
rs150194093
|
0.00004
|
|
NM_002230.4(JUP):c.115A>G (p.Ser39Gly)
|
rs782211863
|
0.00004
|
|
NM_002230.4(JUP):c.1280C>T (p.Thr427Met)
|
rs781982717
|
0.00004
|
|
NM_002230.4(JUP):c.1331G>A (p.Arg444His)
|
rs369507567
|
0.00004
|
|
NM_002230.4(JUP):c.1880C>T (p.Ser627Leu)
|
rs781883243
|
0.00004
|
|
NM_002230.4(JUP):c.2122G>A (p.Asp708Asn)
|
rs781804177
|
0.00004
|
|
NM_002230.4(JUP):c.607C>T (p.Arg203Cys)
|
rs147354282
|
0.00004
|
|
NM_002234.4(KCNA5):c.1539C>T (p.Pro513=)
|
rs145832242
|
0.00004
|
|
NM_002291.3(LAMB1):c.3391+4A>C
|
rs766051911
|
0.00004
|
|
NM_002292.4(LAMB2):c.1391G>A (p.Arg464His)
|
rs188487818
|
0.00004
|
|
NM_002292.4(LAMB2):c.2262G>A (p.Leu754=)
|
rs756931255
|
0.00004
|
|
NM_002292.4(LAMB2):c.4369C>T (p.Arg1457Trp)
|
rs151037751
|
0.00004
|
|
NM_002294.3(LAMP2):c.-7C>T
|
rs762305947
|
0.00004
|
|
NM_002294.3(LAMP2):c.517G>A (p.Val173Ile)
|
rs141574558
|
0.00004
|
|
NM_002294.3(LAMP2):c.65-13T>A
|
rs727503121
|
0.00004
|
|
NM_002294.3(LAMP2):c.929-5T>C
|
rs375341409
|
0.00004
|
|
NM_002296.4(LBR):c.851C>T (p.Thr284Met)
|
rs371750924
|
0.00004
|
|
NM_002317.7(LOX):c.1222T>C (p.Tyr408His)
|
rs765126342
|
0.00004
|
|
NM_002382.5(MAX):c.56A>T (p.Gln19Leu)
|
rs200547781
|
0.00004
|
|
NM_002386.4(MC1R):c.101G>A (p.Arg34Gln)
|
rs369016553
|
0.00004
|
|
NM_002386.4(MC1R):c.556G>A (p.Val186Met)
|
rs773260532
|
0.00004
|
|
NM_002435.3(MPI):c.1053+15A>G
|
rs564765063
|
0.00004
|
|
NM_002439.5(MSH3):c.1361G>A (p.Arg454Gln)
|
rs144798521
|
0.00004
|
|
NM_002439.5(MSH3):c.146C>G (p.Pro49Arg)
|
rs564858245
|
0.00004
|
|
NM_002439.5(MSH3):c.1653+4A>G
|
rs373786812
|
0.00004
|
|
NM_002439.5(MSH3):c.1896A>G (p.Lys632=)
|
rs201737845
|
0.00004
|
|
NM_002439.5(MSH3):c.2085A>G (p.Lys695=)
|
rs777245977
|
0.00004
|
|
NM_002439.5(MSH3):c.3130+4T>G
|
rs764306633
|
0.00004
|
|
NM_002439.5(MSH3):c.439C>T (p.Pro147Ser)
|
rs977366961
|
0.00004
|
|
NM_002439.5(MSH3):c.517A>G (p.Ser173Gly)
|
rs750311213
|
0.00004
|
|
NM_002454.3(MTRR):c.27T>C (p.Ala9=)
|
rs114748706
|
0.00004
|
|
NM_002458.3(MUC5B):c.17016C>T (p.Cys5672=)
|
rs368986524
|
0.00004
|
|
NM_002471.4(MYH6):c.1336G>A (p.Ala446Thr)
|
rs556536964
|
0.00004
|
|
NM_002473.6(MYH9):c.1057G>A (p.Val353Ile)
|
rs375702969
|
0.00004
|
|
NM_002473.6(MYH9):c.2714G>A (p.Arg905His)
|
rs727503289
|
0.00004
|
|
NM_002473.6(MYH9):c.3022C>G (p.Leu1008Val)
|
rs535649291
|
0.00004
|
|
NM_002473.6(MYH9):c.3320G>A (p.Arg1107Gln)
|
rs137924205
|
0.00004
|
|
NM_002473.6(MYH9):c.5630G>A (p.Arg1877Gln)
|
rs759777823
|
0.00004
|
|
NM_002474.3(MYH11):c.1575+7G>A
|
rs754750176
|
0.00004
|
|
NM_002474.3(MYH11):c.2860-14C>G
|
rs371582357
|
0.00004
|
|
NM_002474.3(MYH11):c.4072G>T (p.Ala1358Ser)
|
rs763280025
|
0.00004
|
|
NM_002474.3(MYH11):c.503-9T>C
|
rs554607161
|
0.00004
|
|
NM_002474.3(MYH11):c.5454G>A (p.Ala1818=)
|
rs374486989
|
0.00004
|
|
NM_002485.5(NBN):c.1089C>T (p.Tyr363=)
|
rs121908974
|
0.00004
|
|
NM_002485.5(NBN):c.278C>T (p.Ser93Leu)
|
rs12721593
|
0.00004
|
|
NM_002485.5(NBN):c.595C>T (p.Pro199Ser)
|
rs587780097
|
0.00004
|
|
NM_002524.5(NRAS):c.291-8G>A
|
rs376187980
|
0.00004
|
|
NM_002528.7(NTHL1):c.111A>G (p.Ala37=)
|
rs779229970
|
0.00004
|
|
NM_002528.7(NTHL1):c.354+4G>T
|
rs771353497
|
0.00004
|
|
NM_002529.4(NTRK1):c.1252-6C>G
|
rs776728101
|
0.00004
|
|
NM_002529.4(NTRK1):c.1796G>A (p.Arg599His)
|
rs775718859
|
0.00004
|
|
NM_002529.4(NTRK1):c.288-5C>T
|
rs200860423
|
0.00004
|
|
NM_002529.4(NTRK1):c.818G>A (p.Arg273Gln)
|
rs200305545
|
0.00004
|
|
NM_002608.4(PDGFB):c.572G>A (p.Arg191Gln)
|
rs776409973
|
0.00004
|
|
NM_002661.5(PLCG2):c.502A>G (p.Thr168Ala)
|
rs753974933
|
0.00004
|
|
NM_002691.4(POLD1):c.1118A>G (p.Lys373Arg)
|
rs770407151
|
0.00004
|
|
NM_002691.4(POLD1):c.1504G>A (p.Asp502Asn)
|
rs777866589
|
0.00004
|
|
NM_002691.4(POLD1):c.2250+4G>A
|
rs370478977
|
0.00004
|
|
NM_002691.4(POLD1):c.2250+7G>A
|
rs775363857
|
0.00004
|
|
NM_002691.4(POLD1):c.2429C>T (p.Ala810Val)
|
rs765981178
|
0.00004
|
|
NM_002691.4(POLD1):c.2718-5C>T
|
rs368965066
|
0.00004
|
|
NM_002691.4(POLD1):c.591C>T (p.Ser197=)
|
rs751594716
|
0.00004
|
|
NM_002693.3(POLG):c.2487C>T (p.Pro829=)
|
rs147563527
|
0.00004
|
|
NM_002693.3(POLG):c.2599-10C>T
|
rs769346219
|
0.00004
|
|
NM_002693.3(POLG):c.2880C>T (p.Pro960=)
|
rs752500492
|
0.00004
|
|
NM_002693.3(POLG):c.3222G>T (p.Val1074=)
|
rs746773616
|
0.00004
|
|
NM_002693.3(POLG):c.3444C>T (p.Arg1148=)
|
rs374937961
|
0.00004
|
|
NM_002693.3(POLG):c.3667A>G (p.Ile1223Val)
|
rs148786642
|
0.00004
|
|
NM_002700.3(POU4F3):c.405G>A (p.Pro135=)
|
rs145372405
|
0.00004
|
|
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser)
|
rs572274623
|
0.00004
|
|
NM_002863.5(PYGL):c.1519-15C>A
|
rs372886463
|
0.00004
|
|
NM_002878.4(RAD51D):c.145-13G>T
|
rs760867838
|
0.00004
|
|
NM_002878.4(RAD51D):c.264-7C>T
|
rs753529790
|
0.00004
|
|
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys)
|
rs587781813
|
0.00004
|
|
NM_002880.4(RAF1):c.1913C>T (p.Thr638Met)
|
rs730881007
|
0.00004
|
|
NM_002880.4(RAF1):c.853A>G (p.Ser285Gly)
|
rs150054973
|
0.00004
|
|
NM_002890.3(RASA1):c.2020C>T (p.Arg674Cys)
|
rs370631681
|
0.00004
|
|
NM_002890.3(RASA1):c.2608T>C (p.Leu870=)
|
rs372498033
|
0.00004
|
|
NM_002900.3(RBP3):c.1581G>A (p.Pro527=)
|
rs782233629
|
0.00004
|
|
NM_003001.5(SDHC):c.490A>T (p.Met164Leu)
|
rs200375156
|
0.00004
|
|
NM_003036.4(SKI):c.1258G>A (p.Ala420Thr)
|
rs771862077
|
0.00004
|
|
NM_003049.4(SLC10A1):c.517G>C (p.Gly173Arg)
|
rs750470666
|
0.00004
|
|
NM_003052.5(SLC34A1):c.303G>A (p.Leu101=)
|
rs200493624
|
0.00004
|
|
NM_003060.4(SLC22A5):c.1017T>C (p.Asn339=)
|
rs758572818
|
0.00004
|
|
NM_003060.4(SLC22A5):c.1113C>T (p.Asp371=)
|
rs200637508
|
0.00004
|
|
NM_003072.5(SMARCA4):c.1847C>T (p.Pro616Leu)
|
rs755935365
|
0.00004
|
|
NM_003072.5(SMARCA4):c.247G>A (p.Gly83Ser)
|
rs766474711
|
0.00004
|
|
NM_003072.5(SMARCA4):c.4847C>T (p.Pro1616Leu)
|
rs878854234
|
0.00004
|
|
NM_003072.5(SMARCA4):c.656C>T (p.Thr219Met)
|
rs371832808
|
0.00004
|
|
NM_003073.5(SMARCB1):c.1032C>T (p.Gly344=)
|
rs149451748
|
0.00004
|
|
NM_003098.3(SNTA1):c.820C>T (p.Arg274Trp)
|
rs201763667
|
0.00004
|
|
NM_003119.4(SPG7):c.1266C>T (p.Ser422=)
|
rs767857665
|
0.00004
|
|
NM_003119.4(SPG7):c.184-4T>C
|
rs533778042
|
0.00004
|
|
NM_003119.4(SPG7):c.656T>C (p.Ile219Thr)
|
rs114255772
|
0.00004
|
|
NM_003126.4(SPTA1):c.1175C>T (p.Ala392Val)
|
rs748917509
|
0.00004
|
|
NM_003126.4(SPTA1):c.2588-3T>C
|
rs375142282
|
0.00004
|
|
NM_003235.5(TG):c.2762-4C>T
|
rs372101475
|
0.00004
|
|
NM_003238.6(TGFB2):c.1053G>A (p.Pro351=)
|
rs142741166
|
0.00004
|
|
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp)
|
rs761991787
|
0.00004
|
|
NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met)
|
rs150022335
|
0.00004
|
|
NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln)
|
rs371209879
|
0.00004
|
|
NM_003242.6(TGFBR2):c.696C>T (p.Ala232=)
|
rs768508812
|
0.00004
|
|
NM_003289.4(TPM2):c.374+9G>C
|
rs200730708
|
0.00004
|
|
NM_003331.5(TYK2):c.1254G>A (p.Ser418=)
|
rs201945206
|
0.00004
|
|
NM_003331.5(TYK2):c.1839C>T (p.Ser613=)
|
rs748006603
|
0.00004
|
|
NM_003331.5(TYK2):c.1968C>T (p.Tyr656=)
|
rs764154157
|
0.00004
|
|
NM_003361.4(UMOD):c.392G>A (p.Gly131Asp)
|
rs368943553
|
0.00004
|
|
NM_003465.3(CHIT1):c.26-4C>A
|
rs753899130
|
0.00004
|
|
NM_003477.3(PDHX):c.1239A>T (p.Gly413=)
|
rs148758785
|
0.00004
|
|
NM_003477.3(PDHX):c.526A>G (p.Ile176Val)
|
rs767427196
|
0.00004
|
|
NM_003482.4(KMT2D):c.10741-7A>G
|
rs550510739
|
0.00004
|
|
NM_003482.4(KMT2D):c.1075C>T (p.Arg359Cys)
|
rs372085797
|
0.00004
|
|
NM_003482.4(KMT2D):c.12039A>G (p.Gly4013=)
|
rs567323882
|
0.00004
|
|
NM_003482.4(KMT2D):c.12712C>T (p.Arg4238Cys)
|
rs398123714
|
0.00004
|
|
NM_003482.4(KMT2D):c.13009C>G (p.Pro4337Ala)
|
rs587778475
|
0.00004
|
|
NM_003482.4(KMT2D):c.1463C>T (p.Pro488Leu)
|
rs763729848
|
0.00004
|
|
NM_003482.4(KMT2D):c.1488G>A (p.Pro496=)
|
rs534236560
|
0.00004
|
|
NM_003482.4(KMT2D):c.15499A>G (p.Ser5167Gly)
|
rs752976776
|
0.00004
|
|
NM_003482.4(KMT2D):c.16412+13G>A
|
rs587783701
|
0.00004
|
|
NM_003482.4(KMT2D):c.2368C>T (p.Pro790Ser)
|
rs376911077
|
0.00004
|
|
NM_003482.4(KMT2D):c.6255C>A (p.Asn2085Lys)
|
rs200406127
|
0.00004
|
|
NM_003482.4(KMT2D):c.7498G>A (p.Ala2500Thr)
|
rs746638965
|
0.00004
|
|
NM_003482.4(KMT2D):c.7571C>T (p.Thr2524Met)
|
rs760263014
|
0.00004
|
|
NM_003482.4(KMT2D):c.9430G>A (p.Ala3144Thr)
|
rs752428122
|
0.00004
|
|
NM_003491.4(NAA10):c.577G>C (p.Ala193Pro)
|
rs782413408
|
0.00004
|
|
NM_003560.4(PLA2G6):c.898G>A (p.Ala300Thr)
|
rs528966598
|
0.00004
|
|
NM_003611.3(OFD1):c.1015G>A (p.Glu339Lys)
|
rs1374240720
|
0.00004
|
|
NM_003630.3(PEX3):c.818+3A>G
|
rs975195178
|
0.00004
|
|
NM_003659.4(AGPS):c.1335C>T (p.Asp445=)
|
rs200039061
|
0.00004
|
|
NM_003673.4(TCAP):c.447C>T (p.Pro149=)
|
rs45614332
|
0.00004
|
|
NM_003680.4(YARS1):c.414C>T (p.Ser138=)
|
rs762551221
|
0.00004
|
|
NM_003680.4(YARS1):c.685-11A>G
|
rs751943571
|
0.00004
|
|
NM_003722.5(TP63):c.688G>C (p.Val230Leu)
|
rs201466089
|
0.00004
|
|
NM_003742.4(ABCB11):c.2908C>T (p.Pro970Ser)
|
rs779096015
|
0.00004
|
|
NM_003742.4(ABCB11):c.711G>A (p.Arg237=)
|
rs765070028
|
0.00004
|
|
NM_003742.4(ABCB11):c.810G>A (p.Glu270=)
|
rs369671177
|
0.00004
|
|
NM_003839.4(TNFRSF11A):c.1515G>A (p.Ala505=)
|
rs374310569
|
0.00004
|
|
NM_003846.3(PEX11B):c.510T>G (p.Thr170=)
|
rs782275834
|
0.00004
|
|
NM_003850.3(SUCLA2):c.1320T>C (p.Val440=)
|
rs140383237
|
0.00004
|
|
NM_003859.3(DPM1):c.570C>T (p.Tyr190=)
|
rs754109868
|
0.00004
|
|
NM_003907.3(EIF2B5):c.453G>A (p.Val151=)
|
rs376258328
|
0.00004
|
|
NM_003923.3(FOXH1):c.224A>G (p.Glu75Gly)
|
rs761837057
|
0.00004
|
|
NM_003924.4(PHOX2B):c.146C>A (p.Thr49Asn)
|
rs559227588
|
0.00004
|
|
NM_003977.4(AIP):c.692C>T (p.Thr231Met)
|
rs532170807
|
0.00004
|
|
NM_004006.3(DMD):c.10128A>G (p.Leu3376=)
|
rs755438733
|
0.00004
|
|
NM_004006.3(DMD):c.1159A>G (p.Met387Val)
|
rs770202940
|
0.00004
|
|
NM_004006.3(DMD):c.1518G>T (p.Arg506Ser)
|
rs755456119
|
0.00004
|
|
NM_004006.3(DMD):c.1603-6C>T
|
rs774626474
|
0.00004
|
|
NM_004006.3(DMD):c.1848C>A (p.Ser616=)
|
rs376024929
|
0.00004
|
|
NM_004006.3(DMD):c.2117C>A (p.Pro706Gln)
|
rs781015830
|
0.00004
|
|
NM_004006.3(DMD):c.2252G>A (p.Arg751Gln)
|
rs747802164
|
0.00004
|
|
NM_004006.3(DMD):c.3217G>A (p.Glu1073Lys)
|
rs398123931
|
0.00004
|
|
NM_004006.3(DMD):c.5208C>A (p.Asp1736Glu)
|
rs144717862
|
0.00004
|
|
NM_004006.3(DMD):c.5464G>A (p.Gly1822Ser)
|
rs766746479
|
0.00004
|
|
NM_004006.3(DMD):c.6118-13T>G
|
rs750033728
|
0.00004
|
|
NM_004006.3(DMD):c.618A>G (p.Gln206=)
|
rs727503865
|
0.00004
|
|
NM_004006.3(DMD):c.7130C>T (p.Pro2377Leu)
|
rs201262489
|
0.00004
|
|
NM_004006.3(DMD):c.8582T>C (p.Val2861Ala)
|
rs181284440
|
0.00004
|
|
NM_004006.3(DMD):c.8926G>A (p.Glu2976Lys)
|
rs142128738
|
0.00004
|
|
NM_004006.3(DMD):c.9091G>A (p.Val3031Ile)
|
rs143426249
|
0.00004
|
|
NM_004006.3(DMD):c.9198G>A (p.Ser3066=)
|
rs753594128
|
0.00004
|
|
NM_004064.5(CDKN1B):c.216C>T (p.Gly72=)
|
rs776643344
|
0.00004
|
|
NM_004076.5(CRYBB3):c.213C>T (p.Ser71=)
|
rs201863246
|
0.00004
|
|
NM_004086.3(COCH):c.1313G>A (p.Arg438His)
|
rs746680829
|
0.00004
|
|
NM_004086.3(COCH):c.971G>A (p.Arg324Gln)
|
rs748731866
|
0.00004
|
|
NM_004092.4(ECHS1):c.286+4C>T
|
rs181328051
|
0.00004
|
|
NM_004153.4(ORC1):c.2294C>T (p.Thr765Met)
|
rs760741211
|
0.00004
|
|
NM_004168.4(SDHA):c.739A>G (p.Ile247Val)
|
rs571292356
|
0.00004
|
|
NM_004183.4(BEST1):c.1169T>C (p.Ile390Thr)
|
rs375618932
|
0.00004
|
|
NM_004208.4(AIFM1):c.1036G>A (p.Glu346Lys)
|
rs746856770
|
0.00004
|
|
NM_004208.4(AIFM1):c.141A>C (p.Glu47Asp)
|
rs369523358
|
0.00004
|
|
NM_004208.4(AIFM1):c.1643C>T (p.Pro548Leu)
|
rs750418813
|
0.00004
|
|
NM_004208.4(AIFM1):c.556A>G (p.Asn186Asp)
|
rs765298573
|
0.00004
|
|
NM_004230.4(S1PR2):c.955G>A (p.Gly319Arg)
|
rs139097585
|
0.00004
|
|
NM_004239.4(TRIP11):c.2829T>C (p.Phe943=)
|
rs758437737
|
0.00004
|
|
NM_004239.4(TRIP11):c.438C>T (p.Phe146=)
|
rs371786500
|
0.00004
|
|
NM_004268.5(MED17):c.1449C>G (p.Gly483=)
|
rs61754525
|
0.00004
|
|
NM_004273.5(CHST3):c.540C>T (p.Asn180=)
|
rs748812857
|
0.00004
|
|
NM_004281.4(BAG3):c.652C>T (p.Arg218Trp)
|
rs397514506
|
0.00004
|
|
NM_004281.4(BAG3):c.679C>G (p.Gln227Glu)
|
rs149517238
|
0.00004
|
|
NM_004281.4(BAG3):c.926G>A (p.Arg309Gln)
|
rs774137001
|
0.00004
|
|
NM_004304.5(ALK):c.1044C>T (p.Ala348=)
|
rs200293454
|
0.00004
|
|
NM_004304.5(ALK):c.1787T>C (p.Met596Thr)
|
rs754810505
|
0.00004
|
|
NM_004304.5(ALK):c.32C>T (p.Pro11Leu)
|
rs767822322
|
0.00004
|
|
NM_004304.5(ALK):c.3331G>T (p.Val1111Leu)
|
rs752052590
|
0.00004
|
|
NM_004304.5(ALK):c.3452C>T (p.Thr1151Met)
|
rs113994091
|
0.00004
|
|
NM_004304.5(ALK):c.3645G>A (p.Pro1215=)
|
rs775768862
|
0.00004
|
|
NM_004304.5(ALK):c.4801G>A (p.Ala1601Thr)
|
rs376702277
|
0.00004
|
|
NM_004304.5(ALK):c.506A>G (p.Asn169Ser)
|
rs752129360
|
0.00004
|
|
NM_004304.5(ALK):c.930G>T (p.Glu310Asp)
|
rs367712624
|
0.00004
|
|
NM_004320.6(ATP2A1):c.220-11C>T
|
rs369161791
|
0.00004
|
|
NM_004320.6(ATP2A1):c.765G>A (p.Glu255=)
|
rs200531611
|
0.00004
|
|
NM_004329.3(BMPR1A):c.1216C>T (p.Arg406Cys)
|
rs587781332
|
0.00004
|
|
NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys)
|
rs587782578
|
0.00004
|
|
NM_004333.6(BRAF):c.915G>A (p.Ala305=)
|
rs145675911
|
0.00004
|
|
NM_004360.4(CDH1):c.-288del
|
rs5030658
|
0.00004
|
|
NM_004360.5(CDH1):c.1244T>C (p.Ile415Thr)
|
rs587782372
|
0.00004
|
|
NM_004360.5(CDH1):c.1392C>T (p.Val464=)
|
rs373811706
|
0.00004
|
|
NM_004360.5(CDH1):c.1501G>A (p.Val501Met)
|
rs368690400
|
0.00004
|
|
NM_004360.5(CDH1):c.1793G>A (p.Arg598Gln)
|
rs780759537
|
0.00004
|
|
NM_004360.5(CDH1):c.1865A>G (p.Asn622Ser)
|
rs147925149
|
0.00004
|
|
NM_004360.5(CDH1):c.1936+8C>T
|
rs776624068
|
0.00004
|
|
NM_004360.5(CDH1):c.2020A>T (p.Asn674Tyr)
|
rs201637081
|
0.00004
|
|
NM_004360.5(CDH1):c.213C>T (p.Leu71=)
|
rs376667778
|
0.00004
|
|
NM_004360.5(CDH1):c.2165-15C>A
|
rs552874184
|
0.00004
|
|
NM_004360.5(CDH1):c.2246G>A (p.Arg749Gln)
|
rs530717933
|
0.00004
|
|
NM_004360.5(CDH1):c.2280C>T (p.Gly760=)
|
rs768547540
|
0.00004
|
|
NM_004360.5(CDH1):c.2336G>A (p.Arg779Gln)
|
rs587781311
|
0.00004
|
|
NM_004360.5(CDH1):c.2387G>A (p.Arg796Gln)
|
rs587782549
|
0.00004
|
|
NM_004360.5(CDH1):c.2450C>T (p.Ala817Val)
|
rs587782024
|
0.00004
|
|
NM_004360.5(CDH1):c.2474C>T (p.Pro825Leu)
|
rs587781312
|
0.00004
|
|
NM_004360.5(CDH1):c.2494G>A (p.Val832Met)
|
rs35572355
|
0.00004
|
|
NM_004360.5(CDH1):c.377C>T (p.Pro126Leu)
|
rs746703615
|
0.00004
|
|
NM_004360.5(CDH1):c.712A>C (p.Asn238His)
|
rs730881664
|
0.00004
|
|
NM_004369.4(COL6A3):c.2303G>A (p.Arg768His)
|
rs575412915
|
0.00004
|
|
NM_004369.4(COL6A3):c.285G>A (p.Thr95=)
|
rs373435541
|
0.00004
|
|
NM_004369.4(COL6A3):c.4848C>T (p.Ser1616=)
|
rs200948078
|
0.00004
|
|
NM_004369.4(COL6A3):c.6312C>T (p.Gly2104=)
|
rs377074792
|
0.00004
|
|
NM_004369.4(COL6A3):c.7551C>T (p.Asn2517=)
|
rs570963533
|
0.00004
|
|
NM_004369.4(COL6A3):c.9345G>A (p.Pro3115=)
|
rs748814297
|
0.00004
|
|
NM_004370.6(COL12A1):c.2603C>T (p.Thr868Met)
|
rs572007088
|
0.00004
|
|
NM_004370.6(COL12A1):c.3782G>A (p.Ser1261Asn)
|
rs370339027
|
0.00004
|
|
NM_004370.6(COL12A1):c.4962C>T (p.Pro1654=)
|
rs771078518
|
0.00004
|
|
NM_004370.6(COL12A1):c.5410C>T (p.Arg1804Trp)
|
rs201973949
|
0.00004
|
|
NM_004370.6(COL12A1):c.7541A>G (p.Asp2514Gly)
|
rs202109365
|
0.00004
|
|
NM_004370.6(COL12A1):c.794G>A (p.Arg265His)
|
rs778155362
|
0.00004
|
|
NM_004370.6(COL12A1):c.856C>G (p.Gln286Glu)
|
rs369360559
|
0.00004
|
|
NM_004370.6(COL12A1):c.9187G>A (p.Gly3063Ser)
|
rs746453262
|
0.00004
|
|
NM_004380.3(CREBBP):c.1275T>C (p.His425=)
|
rs758886547
|
0.00004
|
|
NM_004380.3(CREBBP):c.2112A>G (p.Pro704=)
|
rs398124142
|
0.00004
|
|
NM_004380.3(CREBBP):c.2413G>A (p.Ala805Thr)
|
rs370128808
|
0.00004
|
|
NM_004380.3(CREBBP):c.2598G>T (p.Met866Ile)
|
rs771016864
|
0.00004
|
|
NM_004380.3(CREBBP):c.423T>G (p.Ser141=)
|
rs760605470
|
0.00004
|
|
NM_004380.3(CREBBP):c.6433A>G (p.Met2145Val)
|
rs758386187
|
0.00004
|
|
NM_004380.3(CREBBP):c.6678G>A (p.Ala2226=)
|
rs750845399
|
0.00004
|
|
NM_004380.3(CREBBP):c.711C>T (p.Ser237=)
|
rs146049063
|
0.00004
|
|
NM_004393.6(DAG1):c.222C>T (p.Val74=)
|
rs150727558
|
0.00004
|
|
NM_004415.4(DSP):c.137G>A (p.Gly46Asp)
|
rs140403872
|
0.00004
|
|
NM_004415.4(DSP):c.1469G>A (p.Arg490His)
|
rs747815091
|
0.00004
|
|
NM_004415.4(DSP):c.2360A>G (p.Tyr787Cys)
|
rs778350289
|
0.00004
|
|
NM_004415.4(DSP):c.2622C>G (p.Ile874Met)
|
rs751067479
|
0.00004
|
|
NM_004415.4(DSP):c.2631-5C>T
|
rs773772683
|
0.00004
|
|
NM_004415.4(DSP):c.264C>T (p.Ile88=)
|
rs727502997
|
0.00004
|
|
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys)
|
rs367752002
|
0.00004
|
|
NM_004415.4(DSP):c.3684A>C (p.Lys1228Asn)
|
rs765645957
|
0.00004
|
|
NM_004415.4(DSP):c.3863A>G (p.Lys1288Arg)
|
rs746482538
|
0.00004
|
|
NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys)
|
rs775594375
|
0.00004
|
|
NM_004415.4(DSP):c.4199G>A (p.Arg1400Gln)
|
rs748109826
|
0.00004
|
|
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln)
|
rs727505037
|
0.00004
|
|
NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln)
|
rs768577891
|
0.00004
|
|
NM_004415.4(DSP):c.5173C>T (p.Arg1725Trp)
|
rs200336897
|
0.00004
|
|
NM_004415.4(DSP):c.5194G>A (p.Asp1732Asn)
|
rs780224658
|
0.00004
|
|
NM_004415.4(DSP):c.5222C>T (p.Ala1741Val)
|
rs749124581
|
0.00004
|
|
NM_004415.4(DSP):c.5554C>T (p.Arg1852Cys)
|
rs550818559
|
0.00004
|
|
NM_004415.4(DSP):c.5795G>A (p.Arg1932His)
|
rs770522444
|
0.00004
|
|
NM_004415.4(DSP):c.5839T>C (p.Tyr1947His)
|
rs767259019
|
0.00004
|
|
NM_004415.4(DSP):c.6595C>T (p.Leu2199Phe)
|
rs549451471
|
0.00004
|
|
NM_004415.4(DSP):c.8117A>T (p.Lys2706Met)
|
rs537588390
|
0.00004
|
|
NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys)
|
rs753033333
|
0.00004
|
|
NM_004415.4(DSP):c.8590T>C (p.Phe2864Leu)
|
rs764514210
|
0.00004
|
|
NM_004415.4(DSP):c.939C>T (p.Ser313=)
|
rs766580649
|
0.00004
|
|
NM_004447.6(EPS8):c.646C>G (p.Pro216Ala)
|
rs201875630
|
0.00004
|
|
NM_004453.4(ETFDH):c.488-12A>C
|
rs180889150
|
0.00004
|
|
NM_004463.3(FGD1):c.2786C>T (p.Pro929Leu)
|
rs727503925
|
0.00004
|
|
NM_004482.4(GALNT3):c.1392+7T>G
|
rs779970449
|
0.00004
|
|
NM_004519.4(KCNQ3):c.1564G>A (p.Val522Ile)
|
rs143683496
|
0.00004
|
|
NM_004525.3(LRP2):c.10704G>A (p.Pro3568=)
|
rs756473581
|
0.00004
|
|
NM_004525.3(LRP2):c.2813G>A (p.Arg938Gln)
|
rs372927481
|
0.00004
|
|
NM_004525.3(LRP2):c.770-12T>C
|
rs138572086
|
0.00004
|
|
NM_004526.4(MCM2):c.2428G>A (p.Val810Ile)
|
rs140928153
|
0.00004
|
|
NM_004562.3(PRKN):c.1000C>T (p.Arg334Cys)
|
rs199657839
|
0.00004
|
|
NM_004565.3(PEX14):c.330C>T (p.Gly110=)
|
rs772527603
|
0.00004
|
|
NM_004568.6(SERPINB6):c.460T>G (p.Ser154Ala)
|
rs727503416
|
0.00004
|
|
NM_004612.4(TGFBR1):c.1065A>C (p.Ala355=)
|
rs758280185
|
0.00004
|
|
NM_004612.4(TGFBR1):c.1091C>G (p.Thr364Ser)
|
rs201050937
|
0.00004
|
|
NM_004629.2(FANCG):c.366G>C (p.Trp122Cys)
|
rs546023787
|
0.00004
|
|
NM_004646.4(NPHS1):c.3165A>T (p.Ser1055=)
|
rs201738778
|
0.00004
|
|
NM_004646.4(NPHS1):c.609-10C>T
|
rs763508503
|
0.00004
|
|
NM_004655.4(AXIN2):c.1222G>A (p.Glu408Lys)
|
rs749846538
|
0.00004
|
|
NM_004655.4(AXIN2):c.1553A>G (p.Tyr518Cys)
|
rs368289818
|
0.00004
|
|
NM_004655.4(AXIN2):c.2083G>T (p.Ala695Ser)
|
rs140510381
|
0.00004
|
|
NM_004655.4(AXIN2):c.2216A>G (p.Asn739Ser)
|
rs547630327
|
0.00004
|
|
NM_004655.4(AXIN2):c.2379G>A (p.Glu793=)
|
rs1367633896
|
0.00004
|
|
NM_004656.4(BAP1):c.1147C>T (p.Arg383Cys)
|
rs201844078
|
0.00004
|
|
NM_004656.4(BAP1):c.1216G>A (p.Glu406Lys)
|
rs748928044
|
0.00004
|
|
NM_004656.4(BAP1):c.1227G>C (p.Val409=)
|
rs201203425
|
0.00004
|
|
NM_004656.4(BAP1):c.1810G>A (p.Val604Met)
|
rs369065146
|
0.00004
|
|
NM_004656.4(BAP1):c.206C>T (p.Thr69Met)
|
rs572063023
|
0.00004
|
|
NM_004656.4(BAP1):c.878C>T (p.Pro293Leu)
|
rs777664260
|
0.00004
|
|
NM_004656.4(BAP1):c.944A>C (p.Glu315Ala)
|
rs149974450
|
0.00004
|
|
NM_004817.4(TJP2):c.1629G>A (p.Ser543=)
|
rs771239031
|
0.00004
|
|
NM_004817.4(TJP2):c.2751C>T (p.Arg917=)
|
rs184519036
|
0.00004
|
|
NM_004817.4(TJP2):c.3183T>G (p.Gly1061=)
|
rs749387422
|
0.00004
|
|
NM_004817.4(TJP2):c.848G>A (p.Arg283Gln)
|
rs748102718
|
0.00004
|
|
NM_004820.5(CYP7B1):c.1476G>A (p.Gln492=)
|
rs372800597
|
0.00004
|
|
NM_004820.5(CYP7B1):c.850+18A>T
|
rs374380529
|
0.00004
|
|
NM_004836.7(EIF2AK3):c.35G>C (p.Arg12Pro)
|
rs756618692
|
0.00004
|
|
NM_004924.6(ACTN4):c.1443-4G>A
|
rs191532828
|
0.00004
|
|
NM_004937.3(CTNS):c.852+8C>T
|
rs780856527
|
0.00004
|
|
NM_004946.3(DOCK2):c.1384-4T>C
|
rs1295678117
|
0.00004
|
|
NM_004946.3(DOCK2):c.44-9G>A
|
rs778542070
|
0.00004
|
|
NM_004975.4(KCNB1):c.2092C>T (p.Arg698Trp)
|
rs779379680
|
0.00004
|
|
NM_004984.4(KIF5A):c.2803C>T (p.Pro935Ser)
|
rs764612223
|
0.00004
|
|
NM_005045.4(RELN):c.1649G>T (p.Arg550Met)
|
rs773589573
|
0.00004
|
|
NM_005045.4(RELN):c.6169C>G (p.Leu2057Val)
|
rs764185528
|
0.00004
|
|
NM_005045.4(RELN):c.7339C>G (p.Pro2447Ala)
|
rs371476408
|
0.00004
|
|
NM_005045.4(RELN):c.8051G>A (p.Arg2684His)
|
rs201157987
|
0.00004
|
|
NM_005076.5(CNTN2):c.1075C>A (p.Arg359Ser)
|
rs371816961
|
0.00004
|
|
NM_005138.3(SCO2):c.752C>T (p.Ser251Leu)
|
rs768228804
|
0.00004
|
|
NM_005188.4(CBL):c.1477C>T (p.Leu493Phe)
|
rs730880434
|
0.00004
|
|
NM_005188.4(CBL):c.2206A>G (p.Asn736Asp)
|
rs397507497
|
0.00004
|
|
NM_005228.5(EGFR):c.1998C>G (p.Leu666=)
|
rs779909747
|
0.00004
|
|
NM_005228.5(EGFR):c.739G>A (p.Asp247Asn)
|
rs780001754
|
0.00004
|
|
NM_005249.5(FOXG1):c.1045T>G (p.Ser349Ala)
|
rs796052472
|
0.00004
|
|
NM_005249.5(FOXG1):c.1273T>C (p.Ser425Pro)
|
rs780242359
|
0.00004
|
|
NM_005249.5(FOXG1):c.251C>A (p.Pro84His)
|
rs866815665
|
0.00004
|
|
NM_005249.5(FOXG1):c.455G>C (p.Gly152Ala)
|
rs796052460
|
0.00004
|
|
NM_005263.5(GFI1):c.1208A>G (p.Lys403Arg)
|
rs28936382
|
0.00004
|
|
NM_005327.7(HADH):c.710-14C>T
|
rs185267497
|
0.00004
|
|
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser)
|
rs397517144
|
0.00004
|
|
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=)
|
rs199526820
|
0.00004
|
|
NM_005422.4(TECTA):c.1685C>T (p.Thr562Met)
|
rs779401654
|
0.00004
|
|
NM_005422.4(TECTA):c.2064G>A (p.Lys688=)
|
rs375140632
|
0.00004
|
|
NM_005422.4(TECTA):c.2288C>T (p.Pro763Leu)
|
rs151296951
|
0.00004
|
|
NM_005422.4(TECTA):c.3742C>T (p.Pro1248Ser)
|
rs202223574
|
0.00004
|
|
NM_005422.4(TECTA):c.4430G>A (p.Arg1477His)
|
rs527976707
|
0.00004
|
|
NM_005422.4(TECTA):c.45C>T (p.Phe15=)
|
rs756460108
|
0.00004
|
|
NM_005431.2(XRCC2):c.501C>A (p.Asn167Lys)
|
rs149929851
|
0.00004
|
|
NM_005431.2(XRCC2):c.581C>T (p.Thr194Met)
|
rs775565256
|
0.00004
|
|
NM_005445.4(SMC3):c.2268+4C>T
|
rs587784426
|
0.00004
|
|
NM_005445.4(SMC3):c.507C>T (p.Asp169=)
|
rs370909218
|
0.00004
|
|
NM_005458.8(GABBR2):c.1177C>G (p.His393Asp)
|
rs768482972
|
0.00004
|
|
NM_005458.8(GABBR2):c.56C>T (p.Pro19Leu)
|
rs1054346747
|
0.00004
|
|
NM_005476.7(GNE):c.1908G>A (p.Ala636=)
|
rs200812140
|
0.00004
|
|
NM_005477.3(HCN4):c.2845C>T (p.Arg949Trp)
|
rs755614529
|
0.00004
|
|
NM_005477.3(HCN4):c.3582A>G (p.Pro1194=)
|
rs375637572
|
0.00004
|
|
NM_005491.5(MAMLD1):c.1320A>G (p.Gln440=)
|
rs151207889
|
0.00004
|
|
NM_005529.7(HSPG2):c.11046C>T (p.Ala3682=)
|
rs149466423
|
0.00004
|
|
NM_005529.7(HSPG2):c.2847G>A (p.Glu949=)
|
rs773662857
|
0.00004
|
|
NM_005529.7(HSPG2):c.5934G>A (p.Arg1978=)
|
rs557762861
|
0.00004
|
|
NM_005529.7(HSPG2):c.7407G>A (p.Thr2469=)
|
rs200462415
|
0.00004
|
|
NM_005529.7(HSPG2):c.8164G>A (p.Ala2722Thr)
|
rs201508804
|
0.00004
|
|
NM_005535.3(IL12RB1):c.1179G>A (p.Pro393=)
|
rs145095951
|
0.00004
|
|
NM_005591.4(MRE11):c.1783+7A>G
|
rs774520952
|
0.00004
|
|
NM_005591.4(MRE11):c.1972A>G (p.Thr658Ala)
|
rs587782756
|
0.00004
|
|
NM_005591.4(MRE11):c.940C>T (p.Leu314=)
|
rs368362407
|
0.00004
|
|
NM_005609.4(PYGM):c.1266C>T (p.Asp422=)
|
rs769602726
|
0.00004
|
|
NM_005612.5(REST):c.2318A>G (p.Gln773Arg)
|
rs199816806
|
0.00004
|
|
NM_005633.4(SOS1):c.115G>A (p.Glu39Lys)
|
rs375934353
|
0.00004
|
|
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln)
|
rs371314838
|
0.00004
|
|
NM_005633.4(SOS1):c.2587C>A (p.Gln863Lys)
|
rs141501083
|
0.00004
|
|
NM_005633.4(SOS1):c.3859A>G (p.Ile1287Val)
|
rs760917490
|
0.00004
|
|
NM_005732.4(RAD50):c.205G>A (p.Asp69Asn)
|
rs370769989
|
0.00004
|
|
NM_005751.5(AKAP9):c.10560A>G (p.Gln3520=)
|
rs369522150
|
0.00004
|
|
NM_005751.5(AKAP9):c.1538A>G (p.Lys513Arg)
|
rs786205713
|
0.00004
|
|
NM_005751.5(AKAP9):c.4840C>T (p.Arg1614Trp)
|
rs772669837
|
0.00004
|
|
NM_005751.5(AKAP9):c.5251C>T (p.Arg1751Cys)
|
rs144269839
|
0.00004
|
|
NM_005751.5(AKAP9):c.5543C>G (p.Ser1848Cys)
|
rs189083857
|
0.00004
|
|
NM_005751.5(AKAP9):c.6946-12A>G
|
rs375657019
|
0.00004
|
|
NM_005751.5(AKAP9):c.8189A>G (p.Gln2730Arg)
|
rs80191629
|
0.00004
|
|
NM_005957.5(MTHFR):c.90G>A (p.Ser30=)
|
rs765167328
|
0.00004
|
|
NM_005989.4(AKR1D1):c.60C>T (p.Ile20=)
|
rs756630815
|
0.00004
|
|
NM_005989.4(AKR1D1):c.723T>C (p.Asp241=)
|
rs200829661
|
0.00004
|
|
NM_005993.5(TBCD):c.874C>G (p.Leu292Val)
|
rs375327000
|
0.00004
|
|
NM_005996.4(TBX3):c.2004G>A (p.Ser668=)
|
rs139599654
|
0.00004
|
|
NM_005996.4(TBX3):c.390-9G>A
|
rs753151479
|
0.00004
|
|
NM_006005.3(WFS1):c.1237T>G (p.Phe413Val)
|
rs71524356
|
0.00004
|
|
NM_006005.3(WFS1):c.1507G>A (p.Val503Ile)
|
rs573775230
|
0.00004
|
|
NM_006005.3(WFS1):c.168C>T (p.Asp56=)
|
rs112598170
|
0.00004
|
|
NM_006005.3(WFS1):c.1743C>T (p.Gly581=)
|
rs377539343
|
0.00004
|
|
NM_006005.3(WFS1):c.1801G>A (p.Val601Met)
|
rs147838635
|
0.00004
|
|
NM_006005.3(WFS1):c.2185G>A (p.Asp729Asn)
|
rs575778537
|
0.00004
|
|
NM_006005.3(WFS1):c.2664G>A (p.Ser888=)
|
rs756116434
|
0.00004
|
|
NM_006005.3(WFS1):c.375C>T (p.Thr125=)
|
rs762324196
|
0.00004
|
|
NM_006009.4(TUBA1A):c.1248T>C (p.Gly416=)
|
rs3206694
|
0.00004
|
|
NM_006015.6(ARID1A):c.6730G>T (p.Val2244Leu)
|
rs372878743
|
0.00004
|
|
NM_006019.4(TCIRG1):c.1904C>T (p.Thr635Met)
|
rs763119311
|
0.00004
|
|
NM_006031.6(PCNT):c.1246A>G (p.Ile416Val)
|
rs368199588
|
0.00004
|
|
NM_006031.6(PCNT):c.1281C>T (p.His427=)
|
rs142413458
|
0.00004
|
|
NM_006031.6(PCNT):c.3313C>T (p.Leu1105=)
|
rs1029955995
|
0.00004
|
|
NM_006031.6(PCNT):c.5803G>C (p.Val1935Leu)
|
rs774248299
|
0.00004
|
|
NM_006031.6(PCNT):c.7568C>T (p.Ala2523Val)
|
rs368569999
|
0.00004
|
|
NM_006059.4(LAMC3):c.3566C>T (p.Ala1189Val)
|
rs369839636
|
0.00004
|
|
NM_006059.4(LAMC3):c.686T>C (p.Val229Ala)
|
rs149485800
|
0.00004
|
|
NM_006060.6(IKZF1):c.754G>A (p.Asp252Asn)
|
rs762538092
|
0.00004
|
|
NM_006073.4(TRDN):c.1568-4T>A
|
rs764779610
|
0.00004
|
|
NM_006129.5(BMP1):c.2166C>T (p.Phe722=)
|
rs149426277
|
0.00004
|
|
NM_006180.6(NTRK2):c.2374C>T (p.Arg792Cys)
|
rs201902834
|
0.00004
|
|
NM_006206.6(PDGFRA):c.2470G>A (p.Val824Ile)
|
rs370600501
|
0.00004
|
|
NM_006206.6(PDGFRA):c.2897A>G (p.His966Arg)
|
rs200042995
|
0.00004
|
|
NM_006218.4(PIK3CA):c.178C>A (p.Gln60Lys)
|
rs71310379
|
0.00004
|
|
NM_006231.4(POLE):c.1357C>G (p.Gln453Glu)
|
rs781360770
|
0.00004
|
|
NM_006231.4(POLE):c.155G>A (p.Arg52Gln)
|
rs372459649
|
0.00004
|
|
NM_006231.4(POLE):c.4051G>A (p.Val1351Ile)
|
rs138443282
|
0.00004
|
|
NM_006231.4(POLE):c.4307G>A (p.Arg1436Gln)
|
rs754518522
|
0.00004
|
|
NM_006231.4(POLE):c.4343A>G (p.Asn1448Ser)
|
rs150545516
|
0.00004
|
|
NM_006231.4(POLE):c.4952+17C>T
|
rs750268044
|
0.00004
|
|
NM_006231.4(POLE):c.5174-6G>C
|
rs770466844
|
0.00004
|
|
NM_006231.4(POLE):c.6012C>T (p.Ile2004=)
|
rs147806951
|
0.00004
|
|
NM_006231.4(POLE):c.6135C>T (p.Pro2045=)
|
rs368662693
|
0.00004
|
|
NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys)
|
rs771490182
|
0.00004
|
|
NM_006231.4(POLE):c.6539C>T (p.Ala2180Val)
|
rs552452448
|
0.00004
|
|
NM_006231.4(POLE):c.912C>T (p.Gly304=)
|
rs1064794932
|
0.00004
|
|
NM_006258.4(PRKG1):c.421A>C (p.Lys141Gln)
|
rs761759814
|
0.00004
|
|
NM_006269.2(RP1):c.2339G>T (p.Arg780Ile)
|
rs762382791
|
0.00004
|
|
NM_006361.6(HOXB13):c.602-7C>A
|
rs370167148
|
0.00004
|
|
NM_006371.5(CRTAP):c.111A>G (p.Pro37=)
|
rs772038741
|
0.00004
|
|
NM_006393.3(NEBL):c.1108C>A (p.Gln370Lys)
|
rs146198369
|
0.00004
|
|
NM_006393.3(NEBL):c.625G>A (p.Ala209Thr)
|
rs142138590
|
0.00004
|
|
NM_006420.3(ARFGEF2):c.2253A>G (p.Ala751=)
|
rs770578384
|
0.00004
|
|
NM_006440.5(TXNRD2):c.449+4C>T
|
rs755751835
|
0.00004
|
|
NM_006440.5(TXNRD2):c.760C>T (p.Arg254Cys)
|
rs183950022
|
0.00004
|
|
NM_006445.4(PRPF8):c.3045C>T (p.Val1015=)
|
rs770535800
|
0.00004
|
|
NM_006445.4(PRPF8):c.6750C>T (p.Gly2250=)
|
rs759598868
|
0.00004
|
|
NM_006493.4(CLN5):c.486C>T (p.Gly162=)
|
rs769007858
|
0.00004
|
|
NM_006514.4(SCN10A):c.1110G>T (p.Gly370=)
|
rs267599808
|
0.00004
|
|
NM_006514.4(SCN10A):c.3156A>G (p.Thr1052=)
|
rs777642089
|
0.00004
|
|
NM_006516.4(SLC2A1):c.1034C>T (p.Ala345Val)
|
rs769943554
|
0.00004
|
|
NM_006516.4(SLC2A1):c.114+18G>A
|
rs745580526
|
0.00004
|
|
NM_006516.4(SLC2A1):c.179C>T (p.Thr60Met)
|
rs142986731
|
0.00004
|
|
NM_006516.4(SLC2A1):c.321C>T (p.Ala107=)
|
rs398124230
|
0.00004
|
|
NM_006565.4(CTCF):c.969G>A (p.Lys323=)
|
rs777402247
|
0.00004
|
|
NM_006567.5(FARS2):c.497C>T (p.Ala166Val)
|
rs538791135
|
0.00004
|
|
NM_006567.5(FARS2):c.676C>T (p.His226Tyr)
|
rs201991648
|
0.00004
|
|
NM_006579.3(EBP):c.188G>A (p.Arg63Gln)
|
rs782638360
|
0.00004
|
|
NM_006612.6(KIF1C):c.996C>T (p.Tyr332=)
|
rs143283587
|
0.00004
|
|
NM_006662.3(SRCAP):c.5303T>C (p.Leu1768Pro)
|
rs587784443
|
0.00004
|
|
NM_006662.3(SRCAP):c.5610C>T (p.Pro1870=)
|
rs141985098
|
0.00004
|
|
NM_006662.3(SRCAP):c.62C>T (p.Ser21Leu)
|
rs183497403
|
0.00004
|
|
NM_006662.3(SRCAP):c.8455A>G (p.Thr2819Ala)
|
rs779992354
|
0.00004
|
|
NM_006757.4(TNNT3):c.417C>T (p.Asp139=)
|
rs367932695
|
0.00004
|
|
NM_006766.5(KAT6A):c.1603C>T (p.Pro535Ser)
|
rs753999434
|
0.00004
|
|
NM_006766.5(KAT6A):c.4988C>T (p.Pro1663Leu)
|
rs755968563
|
0.00004
|
|
NM_006766.5(KAT6A):c.5585C>T (p.Ala1862Val)
|
rs759267222
|
0.00004
|
|
NM_006767.4(LZTR1):c.23G>C (p.Gly8Ala)
|
rs764439278
|
0.00004
|
|
NM_006767.4(LZTR1):c.400+10C>T
|
rs375186405
|
0.00004
|
|
NM_006772.3(SYNGAP1):c.1724G>A (p.Arg575His)
|
rs758932190
|
0.00004
|
|
NM_006772.3(SYNGAP1):c.3834C>T (p.Pro1278=)
|
rs555363112
|
0.00004
|
|
NM_006796.3(AFG3L2):c.1616C>A (p.Ser539Tyr)
|
rs756205069
|
0.00004
|
|
NM_006892.4(DNMT3B):c.1490+9T>C
|
rs370659978
|
0.00004
|
|
NM_006892.4(DNMT3B):c.1542C>T (p.Ala514=)
|
rs140714949
|
0.00004
|
|
NM_006892.4(DNMT3B):c.408C>T (p.Ser136=)
|
rs111877243
|
0.00004
|
|
NM_006922.4(SCN3A):c.4236A>G (p.Gln1412=)
|
rs551837418
|
0.00004
|
|
NM_006922.4(SCN3A):c.474-4C>T
|
rs371709966
|
0.00004
|
|
NM_006922.4(SCN3A):c.928A>T (p.Met310Leu)
|
rs776260027
|
0.00004
|
|
NM_006939.4(SOS2):c.1976T>C (p.Leu659Ser)
|
rs1391029692
|
0.00004
|
|
NM_006939.4(SOS2):c.3076C>T (p.Pro1026Ser)
|
rs201874067
|
0.00004
|
|
NM_006939.4(SOS2):c.3788C>G (p.Pro1263Arg)
|
rs569343105
|
0.00004
|
|
NM_006939.4(SOS2):c.3902A>G (p.His1301Arg)
|
rs759124324
|
0.00004
|
|
NM_006939.4(SOS2):c.532C>G (p.Gln178Glu)
|
rs770603835
|
0.00004
|
|
NM_006946.4(SPTBN2):c.1906C>T (p.Arg636Trp)
|
rs773155491
|
0.00004
|
|
NM_006946.4(SPTBN2):c.2647C>T (p.Arg883Cys)
|
rs761263852
|
0.00004
|
|
NM_006946.4(SPTBN2):c.5060G>A (p.Arg1687Gln)
|
rs763770499
|
0.00004
|
|
NM_006946.4(SPTBN2):c.5804G>A (p.Arg1935His)
|
rs145750214
|
0.00004
|
|
NM_006946.4(SPTBN2):c.6929C>T (p.Ala2310Val)
|
rs749226138
|
0.00004
|
|
NM_006947.4(SRP72):c.40C>T (p.Leu14=)
|
rs779131373
|
0.00004
|
|
NM_006949.4(STXBP2):c.1452+7G>T
|
rs746604591
|
0.00004
|
|
NM_006949.4(STXBP2):c.1453-6C>T
|
rs200538123
|
0.00004
|
|
NM_006949.4(STXBP2):c.1671C>T (p.Thr557=)
|
rs750599225
|
0.00004
|
|
NM_006949.4(STXBP2):c.603G>T (p.Leu201Phe)
|
rs188212047
|
0.00004
|
|
NM_006950.3(SYN1):c.1321G>T (p.Ala441Ser)
|
rs772106134
|
0.00004
|
|
NM_006950.3(SYN1):c.435+10G>A
|
rs771547188
|
0.00004
|
|
NM_007078.3(LDB3):c.1225C>A (p.Gln409Lys)
|
rs139104492
|
0.00004
|
|
NM_007078.3(LDB3):c.1403A>G (p.Asn468Ser)
|
rs730880129
|
0.00004
|
|
NM_007078.3(LDB3):c.2017G>A (p.Asp673Asn)
|
rs45514002
|
0.00004
|
|
NM_007078.3(LDB3):c.689+3861C>T
|
rs754704023
|
0.00004
|
|
NM_007078.3(LDB3):c.690-4617G>A
|
rs754174632
|
0.00004
|
|
NM_007078.3(LDB3):c.944C>T (p.Pro315Leu)
|
rs371649487
|
0.00004
|
|
NM_007126.5(VCP):c.1242G>A (p.Leu414=)
|
rs375262833
|
0.00004
|
|
NM_007194.4(CHEK2):c.*2dup
|
rs749257861
|
0.00004
|
|
NM_007194.4(CHEK2):c.1008G>A (p.Gln336=)
|
rs201544715
|
0.00004
|
|
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)
|
rs121908705
|
0.00004
|
|
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile)
|
rs370968992
|
0.00004
|
|
NM_007194.4(CHEK2):c.15G>A (p.Ser5=)
|
rs145183886
|
0.00004
|
|
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg)
|
rs141776984
|
0.00004
|
|
NM_007215.4(POLG2):c.865C>G (p.Leu289Val)
|
rs530697513
|
0.00004
|
|
NM_007259.5(VPS45):c.390T>C (p.Ile130=)
|
rs782273593
|
0.00004
|
|
NM_007272.3(CTRC):c.493+3G>A
|
rs772436044
|
0.00004
|
|
NM_007272.3(CTRC):c.81C>T (p.Ser27=)
|
rs749455108
|
0.00004
|
|
NM_007294.4(BRCA1):c.-16A>G
|
rs777262055
|
0.00004
|
|
NM_007294.4(BRCA1):c.1016A>C (p.Lys339Thr)
|
rs587781737
|
0.00004
|
|
NM_007294.4(BRCA1):c.1419C>T (p.Asn473=)
|
rs777228325
|
0.00004
|
|
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His)
|
rs56272539
|
0.00004
|
|
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser)
|
rs273898682
|
0.00004
|
|
NM_007294.4(BRCA1):c.2351C>T (p.Ser784Leu)
|
rs55914168
|
0.00004
|
|
NM_007294.4(BRCA1):c.2473G>T (p.Asp825Tyr)
|
rs80357328
|
0.00004
|
|
NM_007294.4(BRCA1):c.2518A>G (p.Ser840Gly)
|
rs377475866
|
0.00004
|
|
NM_007294.4(BRCA1):c.2884G>A (p.Glu962Lys)
|
rs80356955
|
0.00004
|
|
NM_007294.4(BRCA1):c.3143G>A (p.Gly1048Asp)
|
rs80356899
|
0.00004
|
|
NM_007294.4(BRCA1):c.3394A>G (p.Asn1132Asp)
|
rs530464947
|
0.00004
|
|
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn)
|
rs80357175
|
0.00004
|
|
NM_007294.4(BRCA1):c.3758C>G (p.Ser1253Cys)
|
rs397509100
|
0.00004
|
|
NM_007294.4(BRCA1):c.3842A>C (p.Gln1281Pro)
|
rs80357483
|
0.00004
|
|
NM_007294.4(BRCA1):c.425C>A (p.Pro142His)
|
rs55971303
|
0.00004
|
|
NM_007294.4(BRCA1):c.4261C>T (p.His1421Tyr)
|
rs80357013
|
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.446A>C (p.Glu149Ala)
|
rs397507233
|
0.00004
|
|
NM_007294.4(BRCA1):c.4625C>G (p.Ser1542Cys)
|
rs41293457
|
0.00004
|
|
NM_007294.4(BRCA1):c.4669G>C (p.Asp1557His)
|
rs80356906
|
0.00004
|
|
NM_007294.4(BRCA1):c.4676-8C>G
|
rs80358021
|
0.00004
|
|
NM_007294.4(BRCA1):c.4729T>C (p.Ser1577Pro)
|
rs80356909
|
0.00004
|
|
NM_007294.4(BRCA1):c.4735C>G (p.Pro1579Ala)
|
rs145466894
|
0.00004
|
|
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln)
|
rs80357442
|
0.00004
|
|
NM_007294.4(BRCA1):c.661G>T (p.Ala221Ser)
|
rs80357088
|
0.00004
|
|
NM_007294.4(BRCA1):c.81-11del
|
rs273902788
|
0.00004
|
|
NM_007294.4(BRCA1):c.976G>C (p.Glu326Gln)
|
rs773433679
|
0.00004
|
|
NM_007325.5(GRIA3):c.419A>G (p.Gln140Arg)
|
rs771205448
|
0.00004
|
|
NM_007327.4(GRIN1):c.1076G>A (p.Arg359His)
|
rs141704101
|
0.00004
|
|
NM_007327.4(GRIN1):c.2499C>T (p.Ile833=)
|
rs146086141
|
0.00004
|
|
NM_007375.4(TARDBP):c.57A>G (p.Pro19=)
|
rs532319219
|
0.00004
|
|
NM_012073.5(CCT5):c.1075G>A (p.Val359Ile)
|
rs147989324
|
0.00004
|
|
NM_012144.4(DNAI1):c.1155C>T (p.Gly385=)
|
rs549401132
|
0.00004
|
|
NM_012156.2(EPB41L1):c.1772C>T (p.Thr591Met)
|
rs375302378
|
0.00004
|
|
NM_012179.4(FBXO7):c.1535G>A (p.Gly512Asp)
|
rs142471722
|
0.00004
|
|
NM_012186.3(FOXE3):c.334C>T (p.Pro112Ser)
|
rs745571457
|
0.00004
|
|
NM_012186.3(FOXE3):c.703C>T (p.Pro235Ser)
|
rs112802909
|
0.00004
|
|
NM_012208.4(HARS2):c.304-4A>G
|
rs368989873
|
0.00004
|
|
NM_012210.4(TRIM32):c.1134C>T (p.Tyr378=)
|
rs776448126
|
0.00004
|
|
NM_012210.4(TRIM32):c.201T>C (p.Ile67=)
|
rs780799984
|
0.00004
|
|
NM_012210.4(TRIM32):c.265G>A (p.Ala89Thr)
|
rs539376933
|
0.00004
|
|
NM_012210.4(TRIM32):c.339G>C (p.Arg113=)
|
rs150477945
|
0.00004
|
|
NM_012210.4(TRIM32):c.501G>A (p.Lys167=)
|
rs200085883
|
0.00004
|
|
NM_012254.3(SLC27A5):c.225C>T (p.Leu75=)
|
rs372436444
|
0.00004
|
|
NM_012431.3(SEMA3E):c.5C>G (p.Ala2Gly)
|
rs763295904
|
0.00004
|
|
NM_013266.4(CTNNA3):c.2404G>T (p.Asp802Tyr)
|
rs530727340
|
0.00004
|
|
NM_013339.4(ALG6):c.156G>A (p.Pro52=)
|
rs751004049
|
0.00004
|
|
NM_013339.4(ALG6):c.167+7T>C
|
rs374146302
|
0.00004
|
|
NM_013339.4(ALG6):c.618C>T (p.His206=)
|
rs374336458
|
0.00004
|
|
NM_013382.7(POMT2):c.1017C>T (p.Tyr339=)
|
rs1026361359
|
0.00004
|
|
NM_014000.3(VCL):c.1177-14G>A
|
rs778137720
|
0.00004
|
|
NM_014000.3(VCL):c.1607C>A (p.Pro536His)
|
rs200624351
|
0.00004
|
|
NM_014000.3(VCL):c.2472C>G (p.Ile824Met)
|
rs140381835
|
0.00004
|
|
NM_014000.3(VCL):c.2652G>A (p.Glu884=)
|
rs371187988
|
0.00004
|
|
NM_014000.3(VCL):c.2746-8C>T
|
rs532645343
|
0.00004
|
|
NM_014000.3(VCL):c.45G>A (p.Pro15=)
|
rs775062250
|
0.00004
|
|
NM_014009.4(FOXP3):c.331G>A (p.Ala111Thr)
|
rs1424687079
|
0.00004
|
|
NM_014014.5(SNRNP200):c.1581G>A (p.Met527Ile)
|
rs148170370
|
0.00004
|
|
NM_014014.5(SNRNP200):c.4728C>T (p.Ile1576=)
|
rs377641548
|
0.00004
|
|
NM_014053.4(FLVCR1):c.1365C>T (p.Tyr455=)
|
rs779980010
|
0.00004
|
|
NM_014140.4(SMARCAL1):c.1147+8G>A
|
rs759562755
|
0.00004
|
|
NM_014140.4(SMARCAL1):c.1251G>A (p.Thr417=)
|
rs372331472
|
0.00004
|
|
NM_014140.4(SMARCAL1):c.448G>T (p.Ala150Ser)
|
rs376295895
|
0.00004
|
|
NM_014141.6(CNTNAP2):c.1623G>A (p.Pro541=)
|
rs146873712
|
0.00004
|
|
NM_014141.6(CNTNAP2):c.237C>T (p.Ser79=)
|
rs145162968
|
0.00004
|
|
NM_014159.7(SETD2):c.2849G>A (p.Arg950His)
|
rs149265978
|
0.00004
|
|
NM_014159.7(SETD2):c.7355C>T (p.Ser2452Leu)
|
rs775780402
|
0.00004
|
|
NM_014208.3(DSPP):c.1014C>A (p.Ser338Arg)
|
rs370261412
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.102C>A (p.Pro34=)
|
rs1402048390
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.1911C>T (p.Gly637=)
|
rs142275705
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.1914C>T (p.Asp638=)
|
rs752737484
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.2145C>T (p.Cys715=)
|
rs372661052
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.2751-15G>A
|
rs376602983
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.762G>A (p.Arg254=)
|
rs753246905
|
0.00004
|
|
NM_014244.5(ADAMTS2):c.976-10C>A
|
rs973000351
|
0.00004
|
|
NM_014249.4(NR2E3):c.444T>C (p.Ala148=)
|
rs533192044
|
0.00004
|
|
NM_014252.4(SLC25A15):c.255C>T (p.Tyr85=)
|
rs536354947
|
0.00004
|
|
NM_014324.6(AMACR):c.1011C>T (p.Ile337=)
|
rs779290495
|
0.00004
|
|
NM_014339.7(IL17RA):c.1045+6C>T
|
rs763664351
|
0.00004
|
|
NM_014339.7(IL17RA):c.1381C>T (p.Arg461Trp)
|
rs554211497
|
0.00004
|
|
NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile)
|
rs200591364
|
0.00004
|
|
NM_014363.6(SACS):c.11161G>A (p.Gly3721Ser)
|
rs780789569
|
0.00004
|
|
NM_014363.6(SACS):c.11276C>T (p.Thr3759Met)
|
rs751176093
|
0.00004
|
|
NM_014363.6(SACS):c.11301A>T (p.Lys3767Asn)
|
rs762041995
|
0.00004
|
|
NM_014363.6(SACS):c.1224C>T (p.Asp408=)
|
rs2274386
|
0.00004
|
|
NM_014363.6(SACS):c.12968C>T (p.Ser4323Leu)
|
rs150225486
|
0.00004
|
|
NM_014363.6(SACS):c.134C>T (p.Pro45Leu)
|
rs1033188876
|
0.00004
|
|
NM_014363.6(SACS):c.1387C>A (p.His463Asn)
|
rs149951538
|
0.00004
|
|
NM_014363.6(SACS):c.151C>T (p.Leu51=)
|
rs979224977
|
0.00004
|
|
NM_014363.6(SACS):c.1791A>T (p.Ser597=)
|
rs371175405
|
0.00004
|
|
NM_014363.6(SACS):c.1913G>A (p.Cys638Tyr)
|
rs778572943
|
0.00004
|
|
NM_014363.6(SACS):c.4255A>G (p.Ile1419Val)
|
rs138245586
|
0.00004
|
|
NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln)
|
rs764992284
|
0.00004
|
|
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg)
|
rs376680832
|
0.00004
|
|
NM_014363.6(SACS):c.5971G>A (p.Val1991Ile)
|
rs191995849
|
0.00004
|
|
NM_014363.6(SACS):c.6030G>T (p.Lys2010Asn)
|
rs769751841
|
0.00004
|
|
NM_014363.6(SACS):c.6561C>T (p.Ile2187=)
|
rs143477126
|
0.00004
|
|
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala)
|
rs763504656
|
0.00004
|
|
NM_014363.6(SACS):c.8336A>T (p.Gln2779Leu)
|
rs749327297
|
0.00004
|
|
NM_014363.6(SACS):c.9251T>C (p.Ile3084Thr)
|
rs149290718
|
0.00004
|
|
NM_014391.3(ANKRD1):c.545G>A (p.Arg182His)
|
rs530739375
|
0.00004
|
|
NM_014391.3(ANKRD1):c.838A>G (p.Ile280Val)
|
rs144770680
|
0.00004
|
|
NM_014425.5(INVS):c.1107T>C (p.His369=)
|
rs760637052
|
0.00004
|
|
NM_014476.6(PDLIM3):c.11C>T (p.Thr4Met)
|
rs781358846
|
0.00004
|
|
NM_014639.4(SKIC3):c.3710C>T (p.Ala1237Val)
|
rs557540994
|
0.00004
|
|
NM_014704.4(CEP104):c.2662+10A>T
|
rs552644535
|
0.00004
|
|
NM_014714.4(IFT140):c.2424G>A (p.Ala808=)
|
rs375979698
|
0.00004
|
|
NM_014714.4(IFT140):c.3252G>A (p.Ala1084=)
|
rs375975334
|
0.00004
|
|
NM_014714.4(IFT140):c.4182+15C>T
|
rs374874160
|
0.00004
|
|
NM_014714.4(IFT140):c.4350G>A (p.Leu1450=)
|
rs750381445
|
0.00004
|
|
NM_014727.3(KMT2B):c.5504A>T (p.His1835Leu)
|
rs199510721
|
0.00004
|
|
NM_014780.5(CUL7):c.4876C>G (p.Leu1626Val)
|
rs750060978
|
0.00004
|
|
NM_014795.4(ZEB2):c.332-6C>T
|
rs730881186
|
0.00004
|
|
NM_014795.4(ZEB2):c.374C>T (p.Thr125Met)
|
rs727504227
|
0.00004
|
|
NM_014795.4(ZEB2):c.466C>T (p.Arg156Cys)
|
rs147021269
|
0.00004
|
|
NM_014806.5(RUSC2):c.1667G>A (p.Gly556Asp)
|
rs200887792
|
0.00004
|
|
NM_014844.5(TECPR2):c.1335C>T (p.Asn445=)
|
rs778115838
|
0.00004
|
|
NM_014844.5(TECPR2):c.3507C>T (p.Ala1169=)
|
rs775448295
|
0.00004
|
|
NM_014844.5(TECPR2):c.669A>C (p.Pro223=)
|
rs750443286
|
0.00004
|
|
NM_014855.3(AP5Z1):c.540G>A (p.Leu180=)
|
rs768017182
|
0.00004
|
|
NM_014855.3(AP5Z1):c.660A>G (p.Thr220=)
|
rs756140557
|
0.00004
|
|
NM_014874.4(MFN2):c.1269G>A (p.Thr423=)
|
rs145994616
|
0.00004
|
|
NM_014874.4(MFN2):c.1529G>A (p.Arg510Gln)
|
rs376598131
|
0.00004
|
|
NM_014874.4(MFN2):c.58C>T (p.His20Tyr)
|
rs201715603
|
0.00004
|
|
NM_014915.3(ANKRD26):c.1565-4T>C
|
rs747570982
|
0.00004
|
|
NM_014946.4(SPAST):c.441A>G (p.Glu147=)
|
rs375027118
|
0.00004
|
|
NM_015046.7(SETX):c.3029G>A (p.Arg1010His)
|
rs370781594
|
0.00004
|
|
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr)
|
rs140676924
|
0.00004
|
|
NM_015100.4(POGZ):c.3997G>A (p.Asp1333Asn)
|
rs545762626
|
0.00004
|
|
NM_015102.5(NPHP4):c.1653C>T (p.Ala551=)
|
rs751732786
|
0.00004
|
|
NM_015102.5(NPHP4):c.1764-5C>T
|
rs370899989
|
0.00004
|
|
NM_015102.5(NPHP4):c.267C>T (p.Ile89=)
|
rs372171438
|
0.00004
|
|
NM_015141.4(GPD1L):c.817C>T (p.Arg273Cys)
|
rs72552294
|
0.00004
|
|
NM_015158.5(KANK1):c.226C>T (p.Pro76Ser)
|
rs767269190
|
0.00004
|
|
NM_015158.5(KANK1):c.3552C>T (p.Ala1184=)
|
rs766169056
|
0.00004
|
|
NM_015166.4(MLC1):c.1032C>T (p.Asn344=)
|
rs199707637
|
0.00004
|
|
NM_015178.3(RHOBTB2):c.1681G>A (p.Gly561Ser)
|
rs372306607
|
0.00004
|
|
NM_015192.4(PLCB1):c.1764-6G>C
|
rs753832760
|
0.00004
|
|
NM_015215.4(CAMTA1):c.4478C>T (p.Ala1493Val)
|
rs147636995
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.1323T>C (p.Leu441=)
|
rs376335724
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.1401+4A>G
|
rs727503880
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.2451C>T (p.Tyr817=)
|
rs145807002
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=)
|
rs759935029
|
0.00004
|
|
NM_015295.3(SMCHD1):c.288C>T (p.Thr96=)
|
rs369550628
|
0.00004
|
|
NM_015311.3(OBSL1):c.4122C>T (p.Gly1374=)
|
rs374001837
|
0.00004
|
|
NM_015340.4(LARS2):c.944C>T (p.Ser315Leu)
|
rs755162646
|
0.00004
|
|
NM_015378.4(VPS13D):c.7722G>C (p.Leu2574=)
|
rs746257631
|
0.00004
|
|
NM_015404.4(WHRN):c.1417-8G>A
|
rs202228471
|
0.00004
|
|
NM_015404.4(WHRN):c.2203G>A (p.Val735Ile)
|
rs373552185
|
0.00004
|
|
NM_015443.4(KANSL1):c.1652C>T (p.Thr551Ile)
|
rs778178483
|
0.00004
|
|
NM_015474.4(SAMHD1):c.993C>T (p.Tyr331=)
|
rs775726168
|
0.00004
|
|
NM_015559.3(SETBP1):c.4160C>T (p.Thr1387Met)
|
rs200881888
|
0.00004
|
|
NM_015570.4(AUTS2):c.2716G>A (p.Ala906Thr)
|
rs141876742
|
0.00004
|
|
NM_015631.6(TCTN3):c.1537C>T (p.Pro513Ser)
|
rs755942179
|
0.00004
|
|
NM_015662.3(IFT172):c.184-6T>A
|
rs371658303
|
0.00004
|
|
NM_015662.3(IFT172):c.3268G>A (p.Val1090Met)
|
rs76076247
|
0.00004
|
|
NM_015702.3(MMADHC):c.696+13C>A
|
rs199528296
|
0.00004
|
|
NM_015895.5(GMNN):c.397C>T (p.Arg133Cys)
|
rs771371885
|
0.00004
|
|
NM_015915.5(ATL1):c.311A>G (p.Asn104Ser)
|
rs377736535
|
0.00004
|
|
NM_015978.3(TNNI3K):c.176A>G (p.Asn59Ser)
|
rs199714304
|
0.00004
|
|
NM_016006.6(ABHD5):c.70C>T (p.Leu24Phe)
|
rs773350263
|
0.00004
|
|
NM_016204.4(GDF2):c.716C>T (p.Thr239Met)
|
rs782560993
|
0.00004
|
|
NM_016219.5(MAN1B1):c.1695G>A (p.Thr565=)
|
rs372125925
|
0.00004
|
|
NM_016219.5(MAN1B1):c.426G>A (p.Ala142=)
|
rs199738190
|
0.00004
|
|
NM_016219.5(MAN1B1):c.620+9C>T
|
rs535697514
|
0.00004
|
|
NM_016222.4(DDX41):c.1308C>T (p.Leu436=)
|
rs767835537
|
0.00004
|
|
NM_016222.4(DDX41):c.1622-3C>T
|
rs200471726
|
0.00004
|
|
NM_016239.4(MYO15A):c.5193C>T (p.Phe1731=)
|
rs767426819
|
0.00004
|
|
NM_016239.4(MYO15A):c.5526C>T (p.Ile1842=)
|
rs370047914
|
0.00004
|
|
NM_016239.4(MYO15A):c.5603G>A (p.Arg1868His)
|
rs374249526
|
0.00004
|
|
NM_016239.4(MYO15A):c.6623C>T (p.Pro2208Leu)
|
rs376939609
|
0.00004
|
|
NM_016239.4(MYO15A):c.6729G>A (p.Thr2243=)
|
rs531965733
|
0.00004
|
|
NM_016239.4(MYO15A):c.917G>A (p.Gly306Asp)
|
rs770104934
|
0.00004
|
|
NM_016247.4(IMPG2):c.1154-3C>T
|
rs369437104
|
0.00004
|
|
NM_016277.5(RAB23):c.54A>G (p.Gly18=)
|
rs767442221
|
0.00004
|
|
NM_016356.5(DCDC2):c.1199G>A (p.Arg400His)
|
rs771591530
|
0.00004
|
|
NM_016360.4(TACO1):c.614G>A (p.Arg205His)
|
rs377438959
|
0.00004
|
|
NM_016373.4(WWOX):c.1146C>T (p.Cys382=)
|
rs780939546
|
0.00004
|
|
NM_016580.4(PCDH12):c.1758C>T (p.Gly586=)
|
rs751172816
|
0.00004
|
|
NM_016653.3(MAP3K20):c.414C>T (p.Asn138=)
|
rs202049682
|
0.00004
|
|
NM_016953.4(PDE11A):c.229G>A (p.Gly77Arg)
|
rs777448999
|
0.00004
|
|
NM_017617.5(NOTCH1):c.1903+10C>G
|
rs375704312
|
0.00004
|
|
NM_017617.5(NOTCH1):c.2728G>A (p.Asp910Asn)
|
rs765293859
|
0.00004
|
|
NM_017617.5(NOTCH1):c.3121G>A (p.Gly1041Ser)
|
rs375260339
|
0.00004
|
|
NM_017617.5(NOTCH1):c.3374C>T (p.Ala1125Val)
|
rs200871631
|
0.00004
|
|
NM_017617.5(NOTCH1):c.3905G>A (p.Arg1302His)
|
rs762091081
|
0.00004
|
|
NM_017617.5(NOTCH1):c.5416A>G (p.Met1806Val)
|
rs114479009
|
0.00004
|
|
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg)
|
rs761602495
|
0.00004
|
|
NM_017617.5(NOTCH1):c.6577A>G (p.Ser2193Gly)
|
rs1060502236
|
0.00004
|
|
NM_017617.5(NOTCH1):c.7385C>T (p.Pro2462Leu)
|
rs767435492
|
0.00004
|
|
NM_017668.3(NDE1):c.387C>T (p.Arg129=)
|
rs373842185
|
0.00004
|
|
NM_017739.4(POMGNT1):c.1476C>A (p.Ile492=)
|
rs375432782
|
0.00004
|
|
NM_017777.4(MKS1):c.1273+6C>T
|
rs371480628
|
0.00004
|
|
NM_017777.4(MKS1):c.1274-4G>A
|
rs377033778
|
0.00004
|
|
NM_017780.4(CHD7):c.1030G>A (p.Val344Ile)
|
rs199919181
|
0.00004
|
|
NM_017780.4(CHD7):c.1170T>C (p.Tyr390=)
|
rs554737227
|
0.00004
|
|
NM_017780.4(CHD7):c.3613A>G (p.Ile1205Val)
|
rs751726519
|
0.00004
|
|
NM_017780.4(CHD7):c.5697C>G (p.Gly1899=)
|
rs528130317
|
0.00004
|
|
NM_017780.4(CHD7):c.6107C>T (p.Pro2036Leu)
|
rs369543203
|
0.00004
|
|
NM_017780.4(CHD7):c.7463G>A (p.Gly2488Asp)
|
rs398124324
|
0.00004
|
|
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=)
|
rs188188906
|
0.00004
|
|
NM_017780.4(CHD7):c.7952A>G (p.Asn2651Ser)
|
rs780161032
|
0.00004
|
|
NM_017780.4(CHD7):c.8213C>T (p.Thr2738Met)
|
rs761409446
|
0.00004
|
|
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg)
|
rs121908820
|
0.00004
|
|
NM_018006.5(TRMU):c.1164G>A (p.Pro388=)
|
rs202047181
|
0.00004
|
|
NM_018006.5(TRMU):c.1218C>T (p.Ser406=)
|
rs754239335
|
0.00004
|
|
NM_018006.5(TRMU):c.30C>T (p.Ala10=)
|
rs776692221
|
0.00004
|
|
NM_018006.5(TRMU):c.429C>T (p.His143=)
|
rs746421213
|
0.00004
|
|
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg)
|
rs121909283
|
0.00004
|
|
NM_018136.5(ASPM):c.3726A>G (p.Thr1242=)
|
rs376539395
|
0.00004
|
|
NM_018136.5(ASPM):c.6550C>T (p.Arg2184Trp)
|
rs138727741
|
0.00004
|
|
NM_018136.5(ASPM):c.7033T>C (p.Phe2345Leu)
|
rs761572391
|
0.00004
|
|
NM_018136.5(ASPM):c.8757A>T (p.Arg2919Ser)
|
rs751097660
|
0.00004
|
|
NM_018136.5(ASPM):c.9152G>A (p.Arg3051Gln)
|
rs368000478
|
0.00004
|
|
NM_018136.5(ASPM):c.932G>C (p.Ser311Thr)
|
rs202012380
|
0.00004
|
|
NM_018191.4(RCBTB1):c.1455+6T>A
|
rs756073261
|
0.00004
|
|
NM_018238.4(AGK):c.55C>T (p.Leu19Phe)
|
rs367844999
|
0.00004
|
|
NM_018648.4(NOP10):c.51G>C (p.Leu17=)
|
rs761222362
|
0.00004
|
|
NM_018668.5(VPS33B):c.1170+5G>A
|
rs201431055
|
0.00004
|
|
NM_018668.5(VPS33B):c.1780A>G (p.Arg594Gly)
|
rs868354713
|
0.00004
|
|
NM_018699.4(PRDM5):c.839A>G (p.Lys280Arg)
|
rs183142477
|
0.00004
|
|
NM_018834.6(MATR3):c.1778+3A>G
|
rs568895329
|
0.00004
|
|
NM_018896.5(CACNA1G):c.2128A>T (p.Ser710Cys)
|
rs543673731
|
0.00004
|
|
NM_018979.4(WNK1):c.2266C>G (p.Gln756Glu)
|
rs768622577
|
0.00004
|
|
NM_018979.4(WNK1):c.4135A>G (p.Thr1379Ala)
|
rs758763241
|
0.00004
|
|
NM_019892.6(INPP5E):c.1388-5C>T
|
rs187956407
|
0.00004
|
|
NM_020166.5(MCCC1):c.1701G>A (p.Thr567=)
|
rs377320336
|
0.00004
|
|
NM_020223.4(FAM20C):c.795G>A (p.Ser265=)
|
rs766106805
|
0.00004
|
|
NM_020247.5(COQ8A):c.1711G>A (p.Ala571Thr)
|
rs762900727
|
0.00004
|
|
NM_020297.4(ABCC9):c.1455+4A>C
|
rs376587222
|
0.00004
|
|
NM_020297.4(ABCC9):c.3589C>T (p.Arg1197Cys)
|
rs778849288
|
0.00004
|
|
NM_020320.5(RARS2):c.245G>A (p.Ser82Asn)
|
rs749061654
|
0.00004
|
|
NM_020320.5(RARS2):c.36+4T>C
|
rs764668779
|
0.00004
|
|
NM_020376.4(PNPLA2):c.747G>A (p.Leu249=)
|
rs140959695
|
0.00004
|
|
NM_020376.4(PNPLA2):c.806C>T (p.Pro269Leu)
|
rs201894536
|
0.00004
|
|
NM_020458.4(TTC7A):c.1603A>T (p.Ile535Phe)
|
rs749071692
|
0.00004
|
|
NM_020461.4(TUBGCP6):c.2080G>C (p.Glu694Gln)
|
rs371704034
|
0.00004
|
|
NM_020533.3(MCOLN1):c.1719G>A (p.Glu573=)
|
rs201076545
|
0.00004
|
|
NM_020533.3(MCOLN1):c.984+13C>T
|
rs376284815
|
0.00004
|
|
NM_020549.5(CHAT):c.1037G>A (p.Arg346His)
|
rs779668516
|
0.00004
|
|
NM_020631.6(PLEKHG5):c.753C>T (p.Ser251=)
|
rs556687525
|
0.00004
|
|
NM_020686.6(ABAT):c.555G>A (p.Gly185=)
|
rs147765799
|
0.00004
|
|
NM_020754.4(ARHGAP31):c.3255C>T (p.Pro1085=)
|
rs372301689
|
0.00004
|
|
NM_020778.5(ALPK3):c.4637G>C (p.Ser1546Thr)
|
rs373750743
|
0.00004
|
|
NM_020822.3(KCNT1):c.1156C>T (p.Leu386Phe)
|
rs780875110
|
0.00004
|
|
NM_020822.3(KCNT1):c.1776C>T (p.Gly592=)
|
rs769406687
|
0.00004
|
|
NM_020822.3(KCNT1):c.1996A>T (p.Ile666Phe)
|
rs376231681
|
0.00004
|
|
NM_020822.3(KCNT1):c.2223C>T (p.Asp741=)
|
rs144118960
|
0.00004
|
|
NM_020822.3(KCNT1):c.2594+7C>T
|
rs545094921
|
0.00004
|
|
NM_020822.3(KCNT1):c.3152C>T (p.Ser1051Leu)
|
rs375749415
|
0.00004
|
|
NM_020822.3(KCNT1):c.3289G>A (p.Gly1097Ser)
|
rs199779214
|
0.00004
|
|
NM_020919.4(ALS2):c.886G>A (p.Ala296Thr)
|
rs765049503
|
0.00004
|
|
NM_020928.2(ZSWIM6):c.3035C>T (p.Thr1012Met)
|
rs138406248
|
0.00004
|
|
NM_020937.4(FANCM):c.3938G>C (p.Ser1313Thr)
|
rs771311008
|
0.00004
|
|
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn)
|
rs377767417
|
0.00004
|
|
NM_020975.6(RET):c.2477A>C (p.Tyr826Ser)
|
rs34617196
|
0.00004
|
|
NM_020975.6(RET):c.693C>T (p.Arg231=)
|
rs576806329
|
0.00004
|
|
NM_020975.6(RET):c.718G>C (p.Val240Leu)
|
rs375120544
|
0.00004
|
|
NM_020987.5(ANK3):c.6072C>T (p.Ser2024=)
|
rs532643979
|
0.00004
|
|
NM_020989.4(CRYGC):c.502C>T (p.Arg168Trp)
|
rs28931604
|
0.00004
|
|
NM_021076.4(NEFH):c.141C>T (p.Phe47=)
|
rs780966618
|
0.00004
|
|
NM_021098.3(CACNA1H):c.1430G>A (p.Arg477His)
|
rs1325999341
|
0.00004
|
|
NM_021098.3(CACNA1H):c.4224G>A (p.Arg1408=)
|
rs771972820
|
0.00004
|
|
NM_021100.5(NFS1):c.1053C>T (p.Pro351=)
|
rs763462869
|
0.00004
|
|
NM_021625.5(TRPV4):c.205A>C (p.Met69Leu)
|
rs200199102
|
0.00004
|
|
NM_021830.5(TWNK):c.1827C>A (p.Arg609=)
|
rs146601680
|
0.00004
|
|
NM_021939.4(FKBP10):c.315C>T (p.Gly105=)
|
rs373064272
|
0.00004
|
|
NM_021939.4(FKBP10):c.44C>G (p.Pro15Arg)
|
rs572425083
|
0.00004
|
|
NM_021957.4(GYS2):c.942-12G>A
|
rs367916210
|
0.00004
|
|
NM_022041.4(GAN):c.444C>T (p.His148=)
|
rs764605890
|
0.00004
|
|
NM_022041.4(GAN):c.75G>A (p.Glu25=)
|
rs754548795
|
0.00004
|
|
NM_022081.6(HPS4):c.13A>G (p.Thr5Ala)
|
rs570371168
|
0.00004
|
|
NM_022089.4(ATP13A2):c.2407G>A (p.Val803Ile)
|
rs747785443
|
0.00004
|
|
NM_022089.4(ATP13A2):c.2640C>T (p.Ala880=)
|
rs567287489
|
0.00004
|
|
NM_022089.4(ATP13A2):c.2746G>A (p.Val916Met)
|
rs768674400
|
0.00004
|
|
NM_022089.4(ATP13A2):c.407C>T (p.Ala136Val)
|
rs562519835
|
0.00004
|
|
NM_022095.4(ZNF335):c.3444C>T (p.Thr1148=)
|
rs759216909
|
0.00004
|
|
NM_022114.4(PRDM16):c.171C>T (p.Ser57=)
|
rs369648897
|
0.00004
|
|
NM_022114.4(PRDM16):c.3270G>A (p.Thr1090=)
|
rs375314464
|
0.00004
|
|
NM_022124.6(CDH23):c.1450-10G>A
|
rs751220612
|
0.00004
|
|
NM_022124.6(CDH23):c.1584C>T (p.Arg528=)
|
rs397517309
|
0.00004
|
|
NM_022124.6(CDH23):c.160C>G (p.Gln54Glu)
|
rs765455172
|
0.00004
|
|
NM_022124.6(CDH23):c.1665C>T (p.Asn555=)
|
rs397517310
|
0.00004
|
|
NM_022124.6(CDH23):c.1719C>T (p.Asn573=)
|
rs761913744
|
0.00004
|
|
NM_022124.6(CDH23):c.1750C>T (p.Arg584Trp)
|
rs375781856
|
0.00004
|
|
NM_022124.6(CDH23):c.3915C>T (p.Asn1305=)
|
rs568924674
|
0.00004
|
|
NM_022124.6(CDH23):c.4738C>T (p.Arg1580Cys)
|
rs555430482
|
0.00004
|
|
NM_022124.6(CDH23):c.5713-9A>G
|
rs397517343
|
0.00004
|
|
NM_022124.6(CDH23):c.6098C>T (p.Ser2033Leu)
|
rs537971045
|
0.00004
|
|
NM_022124.6(CDH23):c.6138C>T (p.Ile2046=)
|
rs568741210
|
0.00004
|
|
NM_022124.6(CDH23):c.8931C>T (p.His2977=)
|
rs781099726
|
0.00004
|
|
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr)
|
rs374545987
|
0.00004
|
|
NM_022167.4(XYLT2):c.2312A>G (p.Asn771Ser)
|
rs199705453
|
0.00004
|
|
NM_022436.3(ABCG5):c.1398C>T (p.Ala466=)
|
rs373514009
|
0.00004
|
|
NM_022436.3(ABCG5):c.1411G>A (p.Val471Ile)
|
rs143402711
|
0.00004
|
|
NM_022436.3(ABCG5):c.1569C>T (p.Ile523=)
|
rs376969021
|
0.00004
|
|
NM_022436.3(ABCG5):c.1570G>A (p.Val524Ile)
|
rs200839584
|
0.00004
|
|
NM_022436.3(ABCG5):c.915G>A (p.Thr305=)
|
rs773296588
|
0.00004
|
|
NM_022437.3(ABCG8):c.15G>A (p.Ala5=)
|
rs200951677
|
0.00004
|
|
NM_022437.3(ABCG8):c.331A>C (p.Arg111=)
|
rs752358589
|
0.00004
|
|
NM_022437.3(ABCG8):c.369C>T (p.His123=)
|
rs139859350
|
0.00004
|
|
NM_022437.3(ABCG8):c.722C>T (p.Ser241Phe)
|
rs547583131
|
0.00004
|
|
NM_022455.5(NSD1):c.2350C>G (p.Gln784Glu)
|
rs374740802
|
0.00004
|
|
NM_022455.5(NSD1):c.3178C>T (p.Pro1060Ser)
|
rs188847458
|
0.00004
|
|
NM_022455.5(NSD1):c.4307A>G (p.Tyr1436Cys)
|
rs574641900
|
0.00004
|
|
NM_022489.4(INF2):c.1147G>A (p.Val383Met)
|
rs780689756
|
0.00004
|
|
NM_022489.4(INF2):c.2084G>A (p.Arg695Gln)
|
rs372333024
|
0.00004
|
|
NM_022489.4(INF2):c.2101G>A (p.Ala701Thr)
|
rs772557416
|
0.00004
|
|
NM_022489.4(INF2):c.2204G>A (p.Arg735Gln)
|
rs375390523
|
0.00004
|
|
NM_022489.4(INF2):c.2857C>T (p.Arg953Trp)
|
rs942393807
|
0.00004
|
|
NM_022489.4(INF2):c.3133C>T (p.Arg1045Trp)
|
rs780428043
|
0.00004
|
|
NM_022765.4(MICAL1):c.1937G>A (p.Arg646Gln)
|
rs150285580
|
0.00004
|
|
NM_023036.6(DNAI2):c.1260G>A (p.Pro420=)
|
rs200043910
|
0.00004
|
|
NM_023036.6(DNAI2):c.1494C>T (p.Ser498=)
|
rs761516740
|
0.00004
|
|
NM_023036.6(DNAI2):c.663G>A (p.Thr221=)
|
rs368232107
|
0.00004
|
|
NM_023036.6(DNAI2):c.891G>A (p.Met297Ile)
|
rs750750518
|
0.00004
|
|
NM_023110.3(FGFR1):c.266A>G (p.Gln89Arg)
|
rs773938208
|
0.00004
|
|
NM_024009.3(GJB3):c.499G>A (p.Val167Met)
|
rs376748531
|
0.00004
|
|
NM_024301.5(FKRP):c.1236C>T (p.His412=)
|
rs201076863
|
0.00004
|
|
NM_024334.3(TMEM43):c.1026C>A (p.Asp342Glu)
|
rs376514478
|
0.00004
|
|
NM_024334.3(TMEM43):c.121A>G (p.Met41Val)
|
rs144334386
|
0.00004
|
|
NM_024334.3(TMEM43):c.166C>T (p.Arg56Cys)
|
rs201094625
|
0.00004
|
|
NM_024334.3(TMEM43):c.413A>G (p.Gln138Arg)
|
rs397517384
|
0.00004
|
|
NM_024334.3(TMEM43):c.742C>A (p.Leu248Met)
|
rs780389237
|
0.00004
|
|
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser)
|
rs199526104
|
0.00004
|
|
NM_024408.4(NOTCH2):c.4740G>A (p.Lys1580=)
|
rs367699419
|
0.00004
|
|
NM_024408.4(NOTCH2):c.7263T>A (p.Ser2421=)
|
rs369912969
|
0.00004
|
|
NM_024422.6(DSC2):c.1552G>C (p.Val518Leu)
|
rs397517394
|
0.00004
|
|
NM_024422.6(DSC2):c.2191G>A (p.Asp731Asn)
|
rs762055797
|
0.00004
|
|
NM_024422.6(DSC2):c.2251-20G>A
|
rs779900062
|
0.00004
|
|
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg)
|
rs139290300
|
0.00004
|
|
NM_024422.6(DSC2):c.397G>A (p.Ala133Thr)
|
rs200218585
|
0.00004
|
|
NM_024422.6(DSC2):c.408A>G (p.Arg136=)
|
rs561653481
|
0.00004
|
|
NM_024422.6(DSC2):c.669A>G (p.Pro223=)
|
rs923697621
|
0.00004
|
|
NM_024513.4(FYCO1):c.3831C>T (p.Asp1277=)
|
rs755502918
|
0.00004
|
|
NM_024577.4(SH3TC2):c.3150G>A (p.Ala1050=)
|
rs768044718
|
0.00004
|
|
NM_024589.3(ROGDI):c.555G>C (p.Pro185=)
|
rs771793763
|
0.00004
|
|
NM_024649.5(BBS1):c.432+13C>T
|
rs759287238
|
0.00004
|
|
NM_024649.5(BBS1):c.48-9C>A
|
rs765571574
|
0.00004
|
|
NM_024675.4(PALB2):c.100C>T (p.Arg34Cys)
|
rs373483056
|
0.00004
|
|
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val)
|
rs537258442
|
0.00004
|
|
NM_024675.4(PALB2):c.13C>T (p.Pro5Ser)
|
rs377085677
|
0.00004
|
|
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr)
|
rs370422990
|
0.00004
|
|
NM_024675.4(PALB2):c.1861C>A (p.Pro621Thr)
|
rs756116550
|
0.00004
|
|
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu)
|
rs62625272
|
0.00004
|
|
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe)
|
rs373478248
|
0.00004
|
|
NM_024675.4(PALB2):c.2608G>A (p.Val870Ile)
|
rs376641234
|
0.00004
|
|
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys)
|
rs45476495
|
0.00004
|
|
NM_024675.4(PALB2):c.668T>C (p.Ile223Thr)
|
rs150517167
|
0.00004
|
|
NM_024675.4(PALB2):c.829G>A (p.Asp277Asn)
|
rs778309339
|
0.00004
|
|
NM_024678.6(NARS2):c.514-3C>T
|
rs376010721
|
0.00004
|
|
NM_024741.3(ZNF408):c.2124C>T (p.Gly708=)
|
rs769453151
|
0.00004
|
|
NM_024753.5(TTC21B):c.3003A>C (p.Lys1001Asn)
|
rs377209277
|
0.00004
|
|
NM_024753.5(TTC21B):c.913A>G (p.Ile305Val)
|
rs140899101
|
0.00004
|
|
NM_024757.5(EHMT1):c.2927T>G (p.Leu976Arg)
|
rs147956904
|
0.00004
|
|
NM_024757.5(EHMT1):c.3401G>A (p.Arg1134Gln)
|
rs373174786
|
0.00004
|
|
NM_024757.5(EHMT1):c.529G>C (p.Ala177Pro)
|
rs182595609
|
0.00004
|
|
NM_024757.5(EHMT1):c.589G>A (p.Asp197Asn)
|
rs774174988
|
0.00004
|
|
NM_024876.4(COQ8B):c.298G>T (p.Val100Leu)
|
rs745669537
|
0.00004
|
|
NM_024915.4(GRHL2):c.1348T>A (p.Ser450Thr)
|
rs141136371
|
0.00004
|
|
NM_025074.7(FRAS1):c.9450G>T (p.Val3150=)
|
rs372168929
|
0.00004
|
|
NM_025099.6(CTC1):c.1542A>G (p.Leu514=)
|
rs369802087
|
0.00004
|
|
NM_025099.6(CTC1):c.3222-4A>G
|
rs562479062
|
0.00004
|
|
NM_025114.4(CEP290):c.1104C>T (p.Thr368=)
|
rs483352755
|
0.00004
|
|
NM_025114.4(CEP290):c.5665G>C (p.Glu1889Gln)
|
rs186330724
|
0.00004
|
|
NM_025114.4(CEP290):c.5896A>G (p.Thr1966Ala)
|
rs780570235
|
0.00004
|
|
NM_025137.4(SPG11):c.36C>T (p.Ser12=)
|
rs368656047
|
0.00004
|
|
NM_025237.3(SOST):c.147G>A (p.Glu49=)
|
rs749432078
|
0.00004
|
|
NM_030632.3(ASXL3):c.1214C>T (p.Pro405Leu)
|
rs762217973
|
0.00004
|
|
NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met)
|
rs117945277
|
0.00004
|
|
NM_030662.4(MAP2K2):c.274A>G (p.Arg92Gly)
|
rs759061964
|
0.00004
|
|
NM_030662.4(MAP2K2):c.648C>T (p.Ser216=)
|
rs147276536
|
0.00004
|
|
NM_030662.4(MAP2K2):c.93-6C>T
|
rs727504836
|
0.00004
|
|
NM_030665.4(RAI1):c.2220C>T (p.Ser740=)
|
rs149807469
|
0.00004
|
|
NM_030665.4(RAI1):c.2947G>A (p.Glu983Lys)
|
rs772512478
|
0.00004
|
|
NM_030665.4(RAI1):c.3143C>A (p.Ala1048Asp)
|
rs758990336
|
0.00004
|
|
NM_030665.4(RAI1):c.3884C>T (p.Pro1295Leu)
|
rs376809177
|
0.00004
|
|
NM_030665.4(RAI1):c.4936G>A (p.Gly1646Arg)
|
rs143029873
|
0.00004
|
|
NM_030665.4(RAI1):c.5204C>T (p.Pro1735Leu)
|
rs376429075
|
0.00004
|
|
NM_030665.4(RAI1):c.719C>T (p.Thr240Ile)
|
rs142646842
|
0.00004
|
|
NM_030787.4(CFHR5):c.608-6T>C
|
rs373318468
|
0.00004
|
|
NM_030912.3(TRIM8):c.1145C>T (p.Ala382Val)
|
rs1356513635
|
0.00004
|
|
NM_030928.4(CDT1):c.732G>A (p.Pro244=)
|
rs372803781
|
0.00004
|
|
NM_030962.4(SBF2):c.129G>A (p.Gln43=)
|
rs761285505
|
0.00004
|
|
NM_031220.4(PITPNM3):c.747G>A (p.Lys249=)
|
rs371282530
|
0.00004
|
|
NM_031433.4(MFRP):c.271+10C>T
|
rs554865241
|
0.00004
|
|
NM_031433.4(MFRP):c.321C>T (p.Ala107=)
|
rs562580805
|
0.00004
|
|
NM_031844.3(HNRNPU):c.1081A>G (p.Ile361Val)
|
rs200962317
|
0.00004
|
|
NM_031885.5(BBS2):c.744T>C (p.His248=)
|
rs186893286
|
0.00004
|
|
NM_031885.5(BBS2):c.962C>T (p.Thr321Met)
|
rs758548498
|
0.00004
|
|
NM_031935.3(HMCN1):c.9887+4T>G
|
rs746668370
|
0.00004
|
|
NM_032043.3(BRIP1):c.-5G>A
|
rs754270436
|
0.00004
|
|
NM_032119.4(ADGRV1):c.11071G>A (p.Ala3691Thr)
|
rs370941998
|
0.00004
|
|
NM_032119.4(ADGRV1):c.12335T>G (p.Leu4112Trp)
|
rs550815037
|
0.00004
|
|
NM_032119.4(ADGRV1):c.12463C>T (p.Pro4155Ser)
|
rs576429729
|
0.00004
|
|
NM_032119.4(ADGRV1):c.12464C>T (p.Pro4155Leu)
|
rs765063091
|
0.00004
|
|
NM_032119.4(ADGRV1):c.12682A>G (p.Ile4228Val)
|
rs532836800
|
0.00004
|
|
NM_032119.4(ADGRV1):c.14970C>A (p.Leu4990=)
|
rs368420512
|
0.00004
|
|
NM_032119.4(ADGRV1):c.15145G>A (p.Ala5049Thr)
|
rs376376418
|
0.00004
|
|
NM_032119.4(ADGRV1):c.16313C>T (p.Thr5438Ile)
|
rs745477465
|
0.00004
|
|
NM_032119.4(ADGRV1):c.17388G>A (p.Gln5796=)
|
rs183208875
|
0.00004
|
|
NM_032119.4(ADGRV1):c.1801G>T (p.Asp601Tyr)
|
rs375085032
|
0.00004
|
|
NM_032119.4(ADGRV1):c.18831A>G (p.Glu6277=)
|
rs549421635
|
0.00004
|
|
NM_032119.4(ADGRV1):c.212A>G (p.Tyr71Cys)
|
rs530533430
|
0.00004
|
|
NM_032119.4(ADGRV1):c.2474A>T (p.Asn825Ile)
|
rs374034519
|
0.00004
|
|
NM_032119.4(ADGRV1):c.2524T>G (p.Leu842Val)
|
rs370265583
|
0.00004
|
|
NM_032119.4(ADGRV1):c.2543G>A (p.Gly848Glu)
|
rs959132080
|
0.00004
|
|
NM_032119.4(ADGRV1):c.3431G>A (p.Arg1144Gln)
|
rs199735068
|
0.00004
|
|
NM_032119.4(ADGRV1):c.3819G>A (p.Arg1273=)
|
rs764738838
|
0.00004
|
|
NM_032119.4(ADGRV1):c.4171G>A (p.Glu1391Lys)
|
rs766007827
|
0.00004
|
|
NM_032119.4(ADGRV1):c.4714A>G (p.Asn1572Asp)
|
rs370432538
|
0.00004
|
|
NM_032119.4(ADGRV1):c.5537T>C (p.Val1846Ala)
|
rs756062421
|
0.00004
|
|
NM_032119.4(ADGRV1):c.5576A>G (p.His1859Arg)
|
rs200974394
|
0.00004
|
|
NM_032119.4(ADGRV1):c.5587G>A (p.Val1863Ile)
|
rs529184143
|
0.00004
|
|
NM_032119.4(ADGRV1):c.5833A>G (p.Lys1945Glu)
|
rs772605124
|
0.00004
|
|
NM_032119.4(ADGRV1):c.6338A>G (p.Asn2113Ser)
|
rs201579557
|
0.00004
|
|
NM_032119.4(ADGRV1):c.6578T>C (p.Ile2193Thr)
|
rs201999622
|
0.00004
|
|
NM_032119.4(ADGRV1):c.854G>A (p.Arg285His)
|
rs397517439
|
0.00004
|
|
NM_032119.4(ADGRV1):c.8591C>T (p.Thr2864Met)
|
rs397517440
|
0.00004
|
|
NM_032273.4(TMEM126A):c.531A>G (p.Gln177=)
|
rs369467944
|
0.00004
|
|
NM_032415.7(CARD11):c.3382G>A (p.Val1128Ile)
|
rs372251654
|
0.00004
|
|
NM_032520.5(GNPTG):c.412-14C>T
|
rs528538033
|
0.00004
|
|
NM_032578.4(MYPN):c.1229T>C (p.Val410Ala)
|
rs199476406
|
0.00004
|
|
NM_032578.4(MYPN):c.3416G>A (p.Arg1139His)
|
rs531222847
|
0.00004
|
|
NM_032578.4(MYPN):c.578A>G (p.Gln193Arg)
|
rs573684358
|
0.00004
|
|
NM_032581.4(HYCC1):c.1044C>T (p.Asp348=)
|
rs768075744
|
0.00004
|
|
NM_032608.7(MYO18B):c.1512+6G>A
|
rs771913917
|
0.00004
|
|
NM_032608.7(MYO18B):c.2677G>T (p.Asp893Tyr)
|
rs372933587
|
0.00004
|
|
NM_032634.4(PIGO):c.468C>T (p.His156=)
|
rs374876329
|
0.00004
|
|
NM_032737.4(LMNB2):c.1750C>T (p.Arg584Cys)
|
rs201873197
|
0.00004
|
|
NM_032806.6(POMGNT2):c.1181G>A (p.Arg394Gln)
|
rs199612856
|
0.00004
|
|
NM_032888.4(COL27A1):c.296C>T (p.Ala99Val)
|
rs150759476
|
0.00004
|
|
NM_032977.4(CASP10):c.1466G>A (p.Arg489Gln)
|
rs535121774
|
0.00004
|
|
NM_033056.4(PCDH15):c.4864del (p.Ser1622fs)
|
rs1393195833
|
0.00004
|
|
NM_033056.4(PCDH15):c.5189T>A (p.Ile1730Asn)
|
rs727503364
|
0.00004
|
|
NM_033118.4(MYLK2):c.417C>T (p.Ala139=)
|
rs560951755
|
0.00004
|
|
NM_033118.4(MYLK2):c.557C>T (p.Thr186Met)
|
rs727504591
|
0.00004
|
|
NM_033118.4(MYLK2):c.558G>A (p.Thr186=)
|
rs140695242
|
0.00004
|
|
NM_033159.4(HYAL1):c.483T>C (p.Asp161=)
|
rs368360137
|
0.00004
|
|
NM_033337.3(CAV3):c.201C>A (p.Val67=)
|
rs201593267
|
0.00004
|
|
NM_033337.3(CAV3):c.384C>T (p.Phe128=)
|
rs773934743
|
0.00004
|
|
NM_033343.4(LHX4):c.837C>T (p.Asp279=)
|
rs150931176
|
0.00004
|
|
NM_033360.4(KRAS):c.93A>G (p.Glu31=)
|
rs377354475
|
0.00004
|
|
NM_033380.3(COL4A5):c.443C>T (p.Pro148Leu)
|
rs773404950
|
0.00004
|
|
NM_033380.3(COL4A5):c.796C>G (p.Arg266Gly)
|
rs104886071
|
0.00004
|
|
NM_033641.4(COL4A6):c.1648A>G (p.Ser550Gly)
|
rs146828247
|
0.00004
|
|
NM_052845.4(MMAB):c.349-9G>A
|
rs372577644
|
0.00004
|
|
NM_052845.4(MMAB):c.402G>A (p.Ser134=)
|
rs756766385
|
0.00004
|
|
NM_052859.4(RFT1):c.1208+15A>G
|
rs1448297165
|
0.00004
|
|
NM_052859.4(RFT1):c.1344C>T (p.Cys448=)
|
rs369135875
|
0.00004
|
|
NM_052859.4(RFT1):c.821A>G (p.Asp274Gly)
|
rs781066087
|
0.00004
|
|
NM_052867.4(NALCN):c.2050A>T (p.Thr684Ser)
|
rs751927717
|
0.00004
|
|
NM_052945.4(TNFRSF13C):c.307C>A (p.Arg103=)
|
rs369626832
|
0.00004
|
|
NM_053025.4(MYLK):c.1213A>G (p.Met405Val)
|
rs35436690
|
0.00004
|
|
NM_053025.4(MYLK):c.2183G>A (p.Arg728His)
|
rs370154845
|
0.00004
|
|
NM_053025.4(MYLK):c.2936C>T (p.Pro979Leu)
|
rs368229473
|
0.00004
|
|
NM_053025.4(MYLK):c.374-9T>C
|
rs376695367
|
0.00004
|
|
NM_053025.4(MYLK):c.4302A>G (p.Glu1434=)
|
rs145872838
|
0.00004
|
|
NM_053025.4(MYLK):c.5001C>T (p.Asn1667=)
|
rs375038682
|
0.00004
|
|
NM_053025.4(MYLK):c.969G>A (p.Glu323=)
|
rs368095613
|
0.00004
|
|
NM_053025.4(MYLK):c.998C>T (p.Pro333Leu)
|
rs568039936
|
0.00004
|
|
NM_054012.4(ASS1):c.566+11C>T
|
rs200527708
|
0.00004
|
|
NM_057176.3(BSND):c.744G>A (p.Thr248=)
|
rs754819005
|
0.00004
|
|
NM_058216.3(RAD51C):c.635G>A (p.Arg212His)
|
rs200857129
|
0.00004
|
|
NM_058216.3(RAD51C):c.956G>A (p.Arg319Gln)
|
rs367846829
|
0.00004
|
|
NM_058246.4(DNAJB6):c.276A>G (p.Thr92=)
|
rs765815570
|
0.00004
|
|
NM_058246.4(DNAJB6):c.347-14A>T
|
rs368036062
|
0.00004
|
|
NM_058246.4(DNAJB6):c.404G>A (p.Arg135Gln)
|
rs772121051
|
0.00004
|
|
NM_078470.6(COX15):c.164G>A (p.Arg55Lys)
|
rs777532861
|
0.00004
|
|
NM_080680.3(COL11A2):c.12C>T (p.Cys4=)
|
rs914781832
|
0.00004
|
|
NM_080680.3(COL11A2):c.1726A>G (p.Thr576Ala)
|
rs779116250
|
0.00004
|
|
NM_080680.3(COL11A2):c.2546G>A (p.Arg849Gln)
|
rs761524468
|
0.00004
|
|
NM_080680.3(COL11A2):c.2841C>T (p.Pro947=)
|
rs565891154
|
0.00004
|
|
NM_080680.3(COL11A2):c.2932G>A (p.Asp978Asn)
|
rs772537556
|
0.00004
|
|
NM_080680.3(COL11A2):c.3267G>A (p.Val1089=)
|
rs781462105
|
0.00004
|
|
NM_080680.3(COL11A2):c.3679C>T (p.Pro1227Ser)
|
rs142500487
|
0.00004
|
|
NM_080680.3(COL11A2):c.3883G>A (p.Glu1295Lys)
|
rs758507327
|
0.00004
|
|
NM_080680.3(COL11A2):c.4055C>T (p.Pro1352Leu)
|
rs763995767
|
0.00004
|
|
NM_080680.3(COL11A2):c.4586C>T (p.Pro1529Leu)
|
rs201315111
|
0.00004
|
|
NM_080680.3(COL11A2):c.4676G>A (p.Arg1559Gln)
|
rs774845879
|
0.00004
|
|
NM_080680.3(COL11A2):c.544G>A (p.Val182Ile)
|
rs375937729
|
0.00004
|
|
NM_080680.3(COL11A2):c.587T>C (p.Leu196Pro)
|
rs150982987
|
0.00004
|
|
NM_080911.3(UNG):c.81C>A (p.Ala27=)
|
rs761928219
|
0.00004
|
|
NM_130468.4(CHST14):c.315G>A (p.Arg105=)
|
rs903042632
|
0.00004
|
|
NM_130837.3(OPA1):c.2213G>A (p.Arg738His)
|
rs542540811
|
0.00004
|
|
NM_130837.3(OPA1):c.2520+13A>G
|
rs371943802
|
0.00004
|
|
NM_130837.3(OPA1):c.2531A>G (p.Asn844Ser)
|
rs200428940
|
0.00004
|
|
NM_130837.3(OPA1):c.253C>T (p.Arg85Cys)
|
rs372435892
|
0.00004
|
|
NM_130837.3(OPA1):c.617C>T (p.Pro206Leu)
|
rs772090345
|
0.00004
|
|
NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr)
|
rs141984760
|
0.00004
|
|
NM_130839.5(UBE3A):c.1728G>A (p.Val576=)
|
rs749731066
|
0.00004
|
|
NM_130849.4(SLC39A4):c.594C>T (p.Ala198=)
|
rs782355343
|
0.00004
|
|
NM_133259.4(LRPPRC):c.114C>T (p.Ser38=)
|
rs886056063
|
0.00004
|
|
NM_133261.3(GIPC3):c.213C>A (p.Ile71=)
|
rs876657467
|
0.00004
|
|
NM_133379.5(TTN):c.14526T>A (p.Asn4842Lys)
|
rs776361113
|
0.00004
|
|
NM_133433.4(NIPBL):c.1988A>C (p.Gln663Pro)
|
rs149892167
|
0.00004
|
|
NM_133433.4(NIPBL):c.2931A>G (p.Glu977=)
|
rs587783913
|
0.00004
|
|
NM_138395.4(MARS2):c.1775G>A (p.Arg592Gln)
|
rs377701225
|
0.00004
|
|
NM_138413.4(HOGA1):c.720C>T (p.Cys240=)
|
rs183301169
|
0.00004
|
|
NM_138691.3(TMC1):c.1567-14T>G
|
rs727503485
|
0.00004
|
|
NM_138694.4(PKHD1):c.150T>G (p.Leu50=)
|
rs529214120
|
0.00004
|
|
NM_138694.4(PKHD1):c.2079G>T (p.Leu693=)
|
rs746441159
|
0.00004
|
|
NM_138694.4(PKHD1):c.2280-10C>T
|
rs749295454
|
0.00004
|
|
NM_138694.4(PKHD1):c.8173+12C>T
|
rs368093611
|
0.00004
|
|
NM_139058.3(ARX):c.1462A>G (p.Met488Val)
|
rs767404024
|
0.00004
|
|
NM_139076.3(ABRAXAS1):c.1091A>G (p.Asp364Gly)
|
rs142910445
|
0.00004
|
|
NM_139318.5(KCNH5):c.2828C>T (p.Ser943Leu)
|
rs761523326
|
0.00004
|
|
NM_144499.3(GNAT1):c.292-3C>T
|
rs376181136
|
0.00004
|
|
NM_144573.4(NEXN):c.249G>A (p.Glu83=)
|
rs372532824
|
0.00004
|
|
NM_144670.6(A2ML1):c.2260G>A (p.Val754Ile)
|
rs769726608
|
0.00004
|
|
NM_144670.6(A2ML1):c.2486C>T (p.Ser829Leu)
|
rs758305694
|
0.00004
|
|
NM_144670.6(A2ML1):c.3154A>G (p.Ile1052Val)
|
rs753161669
|
0.00004
|
|
NM_144670.6(A2ML1):c.3935C>T (p.Thr1312Met)
|
rs201083574
|
0.00004
|
|
NM_144672.4(OTOA):c.462C>T (p.Gly154=)
|
rs767974412
|
0.00004
|
|
NM_144687.4(NLRP12):c.289+13C>T
|
rs776591533
|
0.00004
|
|
NM_144997.7(FLCN):c.1418T>C (p.Val473Ala)
|
rs144883828
|
0.00004
|
|
NM_145200.5(CABP4):c.187G>A (p.Gly63Ser)
|
rs767502632
|
0.00004
|
|
NM_145239.3(PRRT2):c.352G>A (p.Ala118Thr)
|
rs201636905
|
0.00004
|
|
NM_145691.4(ATPAF2):c.241G>A (p.Val81Ile)
|
rs371136012
|
0.00004
|
|
NM_152564.5(VPS13B):c.10890T>C (p.Asp3630=)
|
rs773474909
|
0.00004
|
|
NM_152564.5(VPS13B):c.10932C>T (p.Asn3644=)
|
rs745337140
|
0.00004
|
|
NM_152564.5(VPS13B):c.11616G>A (p.Val3872=)
|
rs760377055
|
0.00004
|
|
NM_152564.5(VPS13B):c.1296A>G (p.Thr432=)
|
rs765163542
|
0.00004
|
|
NM_152564.5(VPS13B):c.1825T>C (p.Tyr609His)
|
rs138171489
|
0.00004
|
|
NM_152564.5(VPS13B):c.2825-4T>A
|
rs201354177
|
0.00004
|
|
NM_152564.5(VPS13B):c.4240C>T (p.Leu1414=)
|
rs754939057
|
0.00004
|
|
NM_152564.5(VPS13B):c.4950-9A>G
|
rs373474658
|
0.00004
|
|
NM_152564.5(VPS13B):c.5077-13G>A
|
rs376055963
|
0.00004
|
|
NM_152564.5(VPS13B):c.9876T>G (p.Val3292=)
|
rs143728471
|
0.00004
|
|
NM_152594.3(SPRED1):c.634G>A (p.Val212Ile)
|
rs769630742
|
0.00004
|
|
NM_152618.3(BBS12):c.1995T>C (p.Val665=)
|
rs771980986
|
0.00004
|
|
NM_152618.3(BBS12):c.2100T>C (p.Asn700=)
|
rs145847043
|
0.00004
|
|
NM_152703.5(SAMD9L):c.3687G>A (p.Val1229=)
|
rs774463519
|
0.00004
|
|
NM_153006.3(NAGS):c.429G>A (p.Val143=)
|
rs199976538
|
0.00004
|
|
NM_153006.3(NAGS):c.534G>A (p.Pro178=)
|
rs539061299
|
0.00004
|
|
NM_153006.3(NAGS):c.940G>A (p.Ala314Thr)
|
rs186127828
|
0.00004
|
|
NM_153240.5(NPHP3):c.1083T>C (p.Ser361=)
|
rs781244729
|
0.00004
|
|
NM_153252.5(BRWD3):c.4309G>A (p.Ala1437Thr)
|
rs767555361
|
0.00004
|
|
NM_153603.4(COG7):c.1137+9G>A
|
rs746762111
|
0.00004
|
|
NM_153603.4(COG7):c.963C>T (p.Thr321=)
|
rs762510375
|
0.00004
|
|
NM_153676.4(USH1C):c.1768G>A (p.Ala590Thr)
|
rs369255684
|
0.00004
|
|
NM_153717.3(EVC):c.717T>A (p.Ile239=)
|
rs372312182
|
0.00004
|
|
NM_170699.3(GPBAR1):c.321C>T (p.His107=)
|
rs199941566
|
0.00004
|
|
NM_170699.3(GPBAR1):c.528C>T (p.Pro176=)
|
rs202154681
|
0.00004
|
|
NM_170707.4(LMNA):c.1311C>T (p.Ser437=)
|
rs763224059
|
0.00004
|
|
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser)
|
rs372011095
|
0.00004
|
|
NM_170707.4(LMNA):c.1931G>A (p.Arg644His)
|
rs368386019
|
0.00004
|
|
NM_170707.4(LMNA):c.726G>A (p.Ala242=)
|
rs763625309
|
0.00004
|
|
NM_170707.4(LMNA):c.936+12C>T
|
rs199881992
|
0.00004
|
|
NM_172201.2(KCNE2):c.229C>T (p.Arg77Trp)
|
rs141423405
|
0.00004
|
|
NM_172250.3(MMAA):c.440-4G>A
|
rs780768376
|
0.00004
|
|
NM_172351.3(CD46):c.293C>T (p.Thr98Ile)
|
rs116800126
|
0.00004
|
|
NM_172362.3(KCNH1):c.544T>A (p.Ser182Thr)
|
rs749800577
|
0.00004
|
|
NM_173076.3(ABCA12):c.4873A>G (p.Thr1625Ala)
|
rs553840038
|
0.00004
|
|
NM_173689.7(CRB2):c.2416G>A (p.Val806Ile)
|
rs560877883
|
0.00004
|
|
NM_174878.3(CLRN1):c.254-2054G>C
|
rs185457278
|
0.00004
|
|
NM_174936.4(PCSK9):c.627C>T (p.Pro209=)
|
rs375892354
|
0.00004
|
|
NM_177438.3(DICER1):c.2033C>T (p.Ser678Phe)
|
rs544623004
|
0.00004
|
|
NM_177438.3(DICER1):c.2658C>T (p.Asp886=)
|
rs771049445
|
0.00004
|
|
NM_177438.3(DICER1):c.2951A>G (p.Asn984Ser)
|
rs750932552
|
0.00004
|
|
NM_177438.3(DICER1):c.4051-4A>G
|
rs755235399
|
0.00004
|
|
NM_177438.3(DICER1):c.4889G>A (p.Arg1630His)
|
rs368343829
|
0.00004
|
|
NM_177438.3(DICER1):c.77C>T (p.Pro26Leu)
|
rs201358110
|
0.00004
|
|
NM_177438.3(DICER1):c.897G>A (p.Ser299=)
|
rs201842071
|
0.00004
|
|
NM_177550.5(SLC13A5):c.1156+20C>T
|
rs368150158
|
0.00004
|
|
NM_177550.5(SLC13A5):c.505G>A (p.Gly169Ser)
|
rs199620361
|
0.00004
|
|
NM_178170.3(NEK8):c.1039G>A (p.Val347Ile)
|
rs372172665
|
0.00004
|
|
NM_178170.3(NEK8):c.1251C>T (p.Ser417=)
|
rs149239987
|
0.00004
|
|
NM_181882.3(PRX):c.1222C>T (p.Pro408Ser)
|
rs150244426
|
0.00004
|
|
NM_182760.4(SUMF1):c.726-14G>T
|
rs370793169
|
0.00004
|
|
NM_182914.3(SYNE2):c.12660A>G (p.Gln4220=)
|
rs745820221
|
0.00004
|
|
NM_182914.3(SYNE2):c.13917+10C>T
|
rs760288753
|
0.00004
|
|
NM_182914.3(SYNE2):c.14071A>G (p.Lys4691Glu)
|
rs143798878
|
0.00004
|
|
NM_182914.3(SYNE2):c.17141G>A (p.Arg5714His)
|
rs200137127
|
0.00004
|
|
NM_182914.3(SYNE2):c.20542C>T (p.Arg6848Cys)
|
rs201472187
|
0.00004
|
|
NM_182914.3(SYNE2):c.5575A>G (p.Lys1859Glu)
|
rs201327410
|
0.00004
|
|
NM_182914.3(SYNE2):c.9430C>T (p.Leu3144Phe)
|
rs886044254
|
0.00004
|
|
NM_182925.5(FLT4):c.521C>T (p.Ser174Leu)
|
rs773696166
|
0.00004
|
|
NM_182943.3(PLOD2):c.1943G>A (p.Arg648Gln)
|
rs748652746
|
0.00004
|
|
NM_182961.4(SYNE1):c.10257T>C (p.His3419=)
|
rs147631683
|
0.00004
|
|
NM_182961.4(SYNE1):c.1125C>T (p.Asp375=)
|
rs569973824
|
0.00004
|
|
NM_182961.4(SYNE1):c.1497C>T (p.His499=)
|
rs758555741
|
0.00004
|
|
NM_182961.4(SYNE1):c.16278G>A (p.Thr5426=)
|
rs779112403
|
0.00004
|
|
NM_182961.4(SYNE1):c.19188C>T (p.Asp6396=)
|
rs369626489
|
0.00004
|
|
NM_182961.4(SYNE1):c.3670-4A>G
|
rs377058395
|
0.00004
|
|
NM_182961.4(SYNE1):c.3952G>C (p.Glu1318Gln)
|
rs201144728
|
0.00004
|
|
NM_182961.4(SYNE1):c.462C>T (p.Ser154=)
|
rs761939786
|
0.00004
|
|
NM_182961.4(SYNE1):c.4992A>G (p.Leu1664=)
|
rs187410988
|
0.00004
|
|
NM_183235.3(RAB27A):c.168T>C (p.Ser56=)
|
rs376232909
|
0.00004
|
|
NM_183357.3(ADCY5):c.1127_1129del (p.Leu376_Lys377delinsGln)
|
rs765952713
|
0.00004
|
|
NM_194248.3(OTOF):c.302T>C (p.Ile101Thr)
|
rs754508360
|
0.00004
|
|
NM_194248.3(OTOF):c.3637G>A (p.Gly1213Ser)
|
rs140023414
|
0.00004
|
|
NM_194248.3(OTOF):c.3707G>A (p.Arg1236His)
|
rs368633281
|
0.00004
|
|
NM_194248.3(OTOF):c.4375G>A (p.Val1459Met)
|
rs749384668
|
0.00004
|
|
NM_194454.3(KRIT1):c.1063C>T (p.Leu355Phe)
|
rs182763805
|
0.00004
|
|
NM_198253.3(TERT):c.2255A>G (p.His752Arg)
|
rs375699185
|
0.00004
|
|
NM_198506.5(LRIT3):c.1467C>T (p.Asn489=)
|
rs369821286
|
0.00004
|
|
NM_198525.3(KIF7):c.1164C>T (p.Gly388=)
|
rs975756878
|
0.00004
|
|
NM_198525.3(KIF7):c.1290C>T (p.Pro430=)
|
rs886051534
|
0.00004
|
|
NM_198525.3(KIF7):c.3123G>A (p.Thr1041=)
|
rs146808726
|
0.00004
|
|
NM_198525.3(KIF7):c.3486G>A (p.Gln1162=)
|
rs185689321
|
0.00004
|
|
NM_198578.4(LRRK2):c.3969A>G (p.Gln1323=)
|
rs372245035
|
0.00004
|
|
NM_198904.4(GABRG2):c.1189A>G (p.Ile397Val)
|
rs375785093
|
0.00004
|
|
NM_198994.3(TGM6):c.727G>A (p.Gly243Ser)
|
rs202245813
|
0.00004
|
|
NM_198999.3(SLC26A5):c.1828G>A (p.Glu610Lys)
|
rs148538056
|
0.00004
|
|
NM_199242.3(UNC13D):c.2002C>T (p.Arg668Cys)
|
rs376137910
|
0.00004
|
|
NM_199242.3(UNC13D):c.2496G>A (p.Ala832=)
|
rs763343306
|
0.00004
|
|
NM_199242.3(UNC13D):c.3067C>T (p.Arg1023Cys)
|
rs140599939
|
0.00004
|
|
NM_201253.3(CRB1):c.1046A>T (p.Gln349Leu)
|
rs148551147
|
0.00004
|
|
NM_201384.3(PLEC):c.10729G>A (p.Gly3577Ser)
|
rs782299720
|
0.00004
|
|
NM_201384.3(PLEC):c.11291C>T (p.Ala3764Val)
|
rs368803763
|
0.00004
|
|
NM_201384.3(PLEC):c.11421C>T (p.Gly3807=)
|
rs782144786
|
0.00004
|
|
NM_201384.3(PLEC):c.11638G>A (p.Ala3880Thr)
|
rs541209817
|
0.00004
|
|
NM_201384.3(PLEC):c.12978C>T (p.Thr4326=)
|
rs781832846
|
0.00004
|
|
NM_201384.3(PLEC):c.13596C>T (p.Ala4532=)
|
rs781917029
|
0.00004
|
|
NM_201384.3(PLEC):c.2580G>A (p.Pro860=)
|
rs782468518
|
0.00004
|
|
NM_201384.3(PLEC):c.3009C>T (p.Thr1003=)
|
rs376276993
|
0.00004
|
|
NM_201384.3(PLEC):c.3045G>A (p.Pro1015=)
|
rs368477108
|
0.00004
|
|
NM_201384.3(PLEC):c.3784G>A (p.Gly1262Ser)
|
rs782158050
|
0.00004
|
|
NM_201384.3(PLEC):c.4137C>T (p.His1379=)
|
rs782222813
|
0.00004
|
|
NM_201384.3(PLEC):c.4218G>A (p.Glu1406=)
|
rs782584192
|
0.00004
|
|
NM_201384.3(PLEC):c.5115G>A (p.Ala1705=)
|
rs782757364
|
0.00004
|
|
NM_201384.3(PLEC):c.5555C>T (p.Ala1852Val)
|
rs782360547
|
0.00004
|
|
NM_201384.3(PLEC):c.6204G>A (p.Thr2068=)
|
rs979599396
|
0.00004
|
|
NM_201384.3(PLEC):c.6241G>A (p.Gly2081Ser)
|
rs782450868
|
0.00004
|
|
NM_201384.3(PLEC):c.6312G>A (p.Ala2104=)
|
rs782048792
|
0.00004
|
|
NM_201384.3(PLEC):c.6343G>A (p.Glu2115Lys)
|
rs782713908
|
0.00004
|
|
NM_201384.3(PLEC):c.6427G>A (p.Glu2143Lys)
|
rs782305250
|
0.00004
|
|
NM_201384.3(PLEC):c.6642G>A (p.Ala2214=)
|
rs559736151
|
0.00004
|
|
NM_201384.3(PLEC):c.7592G>A (p.Arg2531His)
|
rs369729231
|
0.00004
|
|
NM_201384.3(PLEC):c.7667G>A (p.Arg2556Gln)
|
rs782640329
|
0.00004
|
|
NM_201384.3(PLEC):c.8577C>T (p.His2859=)
|
rs200012425
|
0.00004
|
|
NM_201384.3(PLEC):c.9023G>A (p.Arg3008Gln)
|
rs200176579
|
0.00004
|
|
NM_201525.4(ADGRG1):c.1781G>A (p.Arg594His)
|
rs757051705
|
0.00004
|
|
NM_203486.3(DLL3):c.531C>T (p.Arg177=)
|
rs1013696397
|
0.00004
|
|
NM_203486.3(DLL3):c.984C>T (p.Val328=)
|
rs138378695
|
0.00004
|
|
NM_206933.4(USH2A):c.10904C>A (p.Thr3635Asn)
|
rs727505166
|
0.00004
|
|
NM_206933.4(USH2A):c.11121G>T (p.Lys3707Asn)
|
rs111033515
|
0.00004
|
|
NM_206933.4(USH2A):c.12275G>A (p.Arg4092Lys)
|
rs727505170
|
0.00004
|
|
NM_206933.4(USH2A):c.12344G>A (p.Arg4115His)
|
rs775075094
|
0.00004
|
|
NM_206933.4(USH2A):c.13484G>A (p.Arg4495His)
|
rs550096037
|
0.00004
|
|
NM_206933.4(USH2A):c.14871G>C (p.Leu4957=)
|
rs748007443
|
0.00004
|
|
NM_206933.4(USH2A):c.1530C>T (p.Asp510=)
|
rs200940197
|
0.00004
|
|
NM_206933.4(USH2A):c.3780T>C (p.His1260=)
|
rs759937489
|
0.00004
|
|
NM_206933.4(USH2A):c.4126T>C (p.Tyr1376His)
|
rs374449657
|
0.00004
|
|
NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly)
|
rs201026468
|
0.00004
|
|
NM_206933.4(USH2A):c.7429G>A (p.Asp2477Asn)
|
rs772852467
|
0.00004
|
|
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg)
|
rs760977747
|
0.00004
|
|
NM_206933.4(USH2A):c.8856C>T (p.Asp2952=)
|
rs149306655
|
0.00004
|
|
NM_206933.4(USH2A):c.9611A>G (p.His3204Arg)
|
rs745539518
|
0.00004
|
|
NM_206933.4(USH2A):c.997T>C (p.Ser333Pro)
|
rs368986242
|
0.00004
|
|
NM_206937.2(LIG4):c.2465C>T (p.Ser822Leu)
|
rs141441003
|
0.00004
|
|
NM_207346.3(TSEN54):c.1430+4C>T
|
rs202109896
|
0.00004
|
|
NM_207352.4(CYP4V2):c.237G>T (p.Glu79Asp)
|
rs199476185
|
0.00004
|
|
NM_207361.6(FREM2):c.8509C>T (p.Pro2837Ser)
|
rs766715445
|
0.00004
|
|
NM_212482.4(FN1):c.4559T>G (p.Val1520Gly)
|
rs370343584
|
0.00004
|
|
NM_000018.4(ACADVL):c.343-14T>C
|
rs200368309
|
0.00003
|
|
NM_000023.4(SGCA):c.34G>A (p.Val12Met)
|
rs766209304
|
0.00003
|
|
NM_000023.4(SGCA):c.522C>T (p.Asn174=)
|
rs148960833
|
0.00003
|
|
NM_000026.4(ADSL):c.763C>T (p.Leu255=)
|
rs771049726
|
0.00003
|
|
NM_000030.3(AGXT):c.27C>A (p.Thr9=)
|
rs180177188
|
0.00003
|
|
NM_000030.3(AGXT):c.742G>T (p.Ala248Ser)
|
rs180177260
|
0.00003
|
|
NM_000038.6(APC):c.1241G>A (p.Arg414His)
|
rs730881233
|
0.00003
|
|
NM_000038.6(APC):c.1312+12A>G
|
rs372970635
|
0.00003
|
|
NM_000038.6(APC):c.1405C>T (p.Leu469=)
|
rs746293695
|
0.00003
|
|
NM_000038.6(APC):c.1495C>G (p.Arg499Gly)
|
rs137854580
|
0.00003
|
|
NM_000038.6(APC):c.1557A>G (p.Leu519=)
|
rs765537673
|
0.00003
|
|
NM_000038.6(APC):c.1966C>G (p.Leu656Val)
|
rs577466163
|
0.00003
|
|
NM_000038.6(APC):c.2090C>T (p.Ala697Val)
|
rs761733547
|
0.00003
|
|
NM_000038.6(APC):c.2203G>C (p.Ala735Pro)
|
rs559313229
|
0.00003
|
|
NM_000038.6(APC):c.2738A>G (p.His913Arg)
|
rs762572576
|
0.00003
|
|
NM_000038.6(APC):c.2966A>G (p.Asp989Gly)
|
rs770976457
|
0.00003
|
|
NM_000038.6(APC):c.296G>A (p.Arg99Gln)
|
rs199842850
|
0.00003
|
|
NM_000038.6(APC):c.3529A>G (p.Ile1177Val)
|
rs369834416
|
0.00003
|
|
NM_000038.6(APC):c.379A>G (p.Ser127Gly)
|
rs200089324
|
0.00003
|
|
NM_000038.6(APC):c.385G>C (p.Glu129Gln)
|
rs376628500
|
0.00003
|
|
NM_000038.6(APC):c.4334C>T (p.Thr1445Ile)
|
rs760686348
|
0.00003
|
|
NM_000038.6(APC):c.4525C>T (p.Leu1509=)
|
rs572839648
|
0.00003
|
|
NM_000038.6(APC):c.5179T>C (p.Cys1727Arg)
|
rs758815860
|
0.00003
|
|
NM_000038.6(APC):c.5506G>A (p.Gly1836Arg)
|
rs766739164
|
0.00003
|
|
NM_000038.6(APC):c.5635G>T (p.Ala1879Ser)
|
rs587779799
|
0.00003
|
|
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys)
|
rs754691867
|
0.00003
|
|
NM_000038.6(APC):c.6099C>G (p.Asp2033Glu)
|
rs370532497
|
0.00003
|
|
NM_000038.6(APC):c.6131G>A (p.Ser2044Asn)
|
rs375743017
|
0.00003
|
|
NM_000038.6(APC):c.6236A>C (p.Asp2079Ala)
|
rs779413228
|
0.00003
|
|
NM_000038.6(APC):c.647G>A (p.Arg216Gln)
|
rs76685252
|
0.00003
|
|
NM_000038.6(APC):c.7150T>A (p.Leu2384Ile)
|
rs755345693
|
0.00003
|
|
NM_000038.6(APC):c.7174C>A (p.Pro2392Thr)
|
rs730881257
|
0.00003
|
|
NM_000038.6(APC):c.7264A>G (p.Thr2422Ala)
|
rs730881260
|
0.00003
|
|
NM_000038.6(APC):c.7415C>T (p.Ala2472Val)
|
rs200399245
|
0.00003
|
|
NM_000038.6(APC):c.757G>A (p.Gly253Ser)
|
rs772806807
|
0.00003
|
|
NM_000038.6(APC):c.791A>G (p.Gln264Arg)
|
rs369345931
|
0.00003
|
|
NM_000038.6(APC):c.8273A>G (p.Glu2758Gly)
|
rs371616945
|
0.00003
|
|
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr)
|
rs369264968
|
0.00003
|
|
NM_000038.6(APC):c.848G>A (p.Arg283Gln)
|
rs149154604
|
0.00003
|
|
NM_000038.6(APC):c.854A>G (p.Asp285Gly)
|
rs201093383
|
0.00003
|
|
NM_000043.6(FAS):c.867A>C (p.Glu289Asp)
|
rs377337130
|
0.00003
|
|
NM_000046.5(ARSB):c.729G>A (p.Glu243=)
|
rs144029271
|
0.00003
|
|
NM_000048.4(ASL):c.924C>T (p.Ala308=)
|
rs747831550
|
0.00003
|
|
NM_000051.4(ATM):c.1464G>T (p.Trp488Cys)
|
rs377597949
|
0.00003
|
|
NM_000051.4(ATM):c.1608-3T>C
|
rs774196176
|
0.00003
|
|
NM_000051.4(ATM):c.1661C>T (p.Thr554Met)
|
rs1060501694
|
0.00003
|
|
NM_000051.4(ATM):c.1905C>T (p.His635=)
|
rs1020808836
|
0.00003
|
|
NM_000051.4(ATM):c.1943T>C (p.Val648Ala)
|
rs141175037
|
0.00003
|
|
NM_000051.4(ATM):c.2396C>T (p.Ala799Val)
|
rs199954262
|
0.00003
|
|
NM_000051.4(ATM):c.2449G>C (p.Asp817His)
|
rs587778067
|
0.00003
|
|
NM_000051.4(ATM):c.2735A>G (p.Gln912Arg)
|
rs730881353
|
0.00003
|
|
NM_000051.4(ATM):c.2751C>T (p.Ser917=)
|
rs876659611
|
0.00003
|
|
NM_000051.4(ATM):c.275A>C (p.Lys92Thr)
|
rs200151849
|
0.00003
|
|
NM_000051.4(ATM):c.2838+9C>G
|
rs370160823
|
0.00003
|
|
NM_000051.4(ATM):c.3242A>G (p.Asn1081Ser)
|
rs368111672
|
0.00003
|
|
NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn)
|
rs372966951
|
0.00003
|
|
NM_000051.4(ATM):c.3300G>A (p.Thr1100=)
|
rs587780621
|
0.00003
|
|
NM_000051.4(ATM):c.4304A>C (p.Lys1435Thr)
|
rs769980220
|
0.00003
|
|
NM_000051.4(ATM):c.4396C>G (p.Arg1466Gly)
|
rs730881369
|
0.00003
|
|
NM_000051.4(ATM):c.4437-7A>G
|
rs370354306
|
0.00003
|
|
NM_000051.4(ATM):c.4444T>C (p.Cys1482Arg)
|
rs752559455
|
0.00003
|
|
NM_000051.4(ATM):c.4964C>A (p.Ser1655Tyr)
|
rs786201215
|
0.00003
|
|
NM_000051.4(ATM):c.6234C>T (p.Ser2078=)
|
rs569483748
|
0.00003
|
|
NM_000051.4(ATM):c.6465G>A (p.Val2155=)
|
rs140423883
|
0.00003
|
|
NM_000051.4(ATM):c.6888A>T (p.Ala2296=)
|
rs200735689
|
0.00003
|
|
NM_000051.4(ATM):c.8152-6C>T
|
rs200389039
|
0.00003
|
|
NM_000051.4(ATM):c.8246A>T (p.Lys2749Ile)
|
rs779145081
|
0.00003
|
|
NM_000052.7(ATP7A):c.1427C>T (p.Thr476Ile)
|
rs782702847
|
0.00003
|
|
NM_000052.7(ATP7A):c.1561G>A (p.Val521Met)
|
rs139902461
|
0.00003
|
|
NM_000052.7(ATP7A):c.4073A>G (p.Asn1358Ser)
|
rs1423719687
|
0.00003
|
|
NM_000052.7(ATP7A):c.844A>G (p.Ile282Val)
|
rs782237314
|
0.00003
|
|
NM_000053.4(ATP7B):c.1543+14G>A
|
rs770362811
|
0.00003
|
|
NM_000053.4(ATP7B):c.1554C>T (p.Ser518=)
|
rs551051945
|
0.00003
|
|
NM_000053.4(ATP7B):c.1686C>T (p.Ser562=)
|
rs138962570
|
0.00003
|
|
NM_000053.4(ATP7B):c.2447+8A>G
|
rs747586752
|
0.00003
|
|
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=)
|
rs570594838
|
0.00003
|
|
NM_000053.4(ATP7B):c.3189G>A (p.Ala1063=)
|
rs370527611
|
0.00003
|
|
NM_000059.4(BRCA2):c.1012G>A (p.Ala338Thr)
|
rs80358396
|
0.00003
|
|
NM_000059.4(BRCA2):c.11G>C (p.Gly4Ala)
|
rs587782137
|
0.00003
|
|
NM_000059.4(BRCA2):c.1219C>G (p.Gln407Glu)
|
rs781079248
|
0.00003
|
|
NM_000059.4(BRCA2):c.1564G>C (p.Gly522Arg)
|
rs80358442
|
0.00003
|
|
NM_000059.4(BRCA2):c.1631C>T (p.Thr544Ile)
|
rs80358448
|
0.00003
|
|
NM_000059.4(BRCA2):c.1793C>T (p.Thr598Ile)
|
rs80358462
|
0.00003
|
|
NM_000059.4(BRCA2):c.1803A>C (p.Lys601Asn)
|
rs768106492
|
0.00003
|
|
NM_000059.4(BRCA2):c.1838T>G (p.Leu613Arg)
|
rs587780646
|
0.00003
|
|
NM_000059.4(BRCA2):c.235A>G (p.Ile79Val)
|
rs80358502
|
0.00003
|
|
NM_000059.4(BRCA2):c.2561A>G (p.Asn854Ser)
|
rs80358520
|
0.00003
|
|
NM_000059.4(BRCA2):c.2593G>C (p.Glu865Gln)
|
rs587782014
|
0.00003
|
|
NM_000059.4(BRCA2):c.3068A>C (p.Asn1023Thr)
|
rs776196396
|
0.00003
|
|
NM_000059.4(BRCA2):c.3225T>C (p.Ser1075=)
|
rs779228375
|
0.00003
|
|
NM_000059.4(BRCA2):c.323A>G (p.Asn108Ser)
|
rs80358568
|
0.00003
|
|
NM_000059.4(BRCA2):c.3254A>G (p.His1085Arg)
|
rs80358570
|
0.00003
|
|
NM_000059.4(BRCA2):c.3329A>T (p.Glu1110Val)
|
rs587782072
|
0.00003
|
|
NM_000059.4(BRCA2):c.3575T>G (p.Phe1192Cys)
|
rs80358606
|
0.00003
|
|
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp)
|
rs28897721
|
0.00003
|
|
NM_000059.4(BRCA2):c.3682A>G (p.Asn1228Asp)
|
rs28897722
|
0.00003
|
|
NM_000059.4(BRCA2):c.3863A>G (p.Asn1288Ser)
|
rs80358630
|
0.00003
|
|
NM_000059.4(BRCA2):c.3904A>T (p.Thr1302Ser)
|
rs543339423
|
0.00003
|
|
NM_000059.4(BRCA2):c.3910A>G (p.Thr1304Ala)
|
rs28897723
|
0.00003
|
|
NM_000059.4(BRCA2):c.4301A>T (p.Lys1434Ile)
|
rs397507714
|
0.00003
|
|
NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu)
|
rs397507330
|
0.00003
|
|
NM_000059.4(BRCA2):c.4483G>A (p.Val1495Ile)
|
rs80358680
|
0.00003
|
|
NM_000059.4(BRCA2):c.4527A>C (p.Gln1509His)
|
rs56283738
|
0.00003
|
|
NM_000059.4(BRCA2):c.4670C>G (p.Thr1557Ser)
|
rs80358698
|
0.00003
|
|
NM_000059.4(BRCA2):c.5002G>A (p.Ala1668Thr)
|
rs587782182
|
0.00003
|
|
NM_000059.4(BRCA2):c.5164A>T (p.Ser1722Cys)
|
rs80358741
|
0.00003
|
|
NM_000059.4(BRCA2):c.5167A>T (p.Thr1723Ser)
|
rs80358742
|
0.00003
|
|
NM_000059.4(BRCA2):c.5228G>A (p.Ser1743Asn)
|
rs587782714
|
0.00003
|
|
NM_000059.4(BRCA2):c.5239A>G (p.Asn1747Asp)
|
rs431825328
|
0.00003
|
|
NM_000059.4(BRCA2):c.5342A>G (p.Asp1781Gly)
|
rs80358756
|
0.00003
|
|
NM_000059.4(BRCA2):c.5495C>A (p.Ser1832Tyr)
|
rs138489917
|
0.00003
|
|
NM_000059.4(BRCA2):c.5566C>T (p.His1856Tyr)
|
rs755791142
|
0.00003
|
|
NM_000059.4(BRCA2):c.5632A>G (p.Asn1878Asp)
|
rs397507358
|
0.00003
|
|
NM_000059.4(BRCA2):c.5634C>G (p.Asn1878Lys)
|
rs80358784
|
0.00003
|
|
NM_000059.4(BRCA2):c.5726A>G (p.Asp1909Gly)
|
rs80358798
|
0.00003
|
|
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr)
|
rs80358833
|
0.00003
|
|
NM_000059.4(BRCA2):c.6172T>A (p.Phe2058Ile)
|
rs80358857
|
0.00003
|
|
NM_000059.4(BRCA2):c.6293C>T (p.Ser2098Phe)
|
rs80358867
|
0.00003
|
|
NM_000059.4(BRCA2):c.632-13T>G
|
rs775947267
|
0.00003
|
|
NM_000059.4(BRCA2):c.632-16A>C
|
rs81002905
|
0.00003
|
|
NM_000059.4(BRCA2):c.663T>G (p.Phe221Leu)
|
rs80358891
|
0.00003
|
|
NM_000059.4(BRCA2):c.6827C>A (p.Pro2276His)
|
rs748541466
|
0.00003
|
|
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val)
|
rs80358916
|
0.00003
|
|
NM_000059.4(BRCA2):c.7301A>C (p.Lys2434Thr)
|
rs80358954
|
0.00003
|
|
NM_000059.4(BRCA2):c.7436-14T>G
|
rs81002814
|
0.00003
|
|
NM_000059.4(BRCA2):c.7565C>T (p.Ser2522Phe)
|
rs80358985
|
0.00003
|
|
NM_000059.4(BRCA2):c.7682A>G (p.Gln2561Arg)
|
rs55647716
|
0.00003
|
|
NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=)
|
rs146430937
|
0.00003
|
|
NM_000059.4(BRCA2):c.8134G>A (p.Asp2712Asn)
|
rs80359056
|
0.00003
|
|
NM_000059.4(BRCA2):c.8917C>T (p.Arg2973Cys)
|
rs45469092
|
0.00003
|
|
NM_000059.4(BRCA2):c.9086C>T (p.Ala3029Val)
|
rs80359162
|
0.00003
|
|
NM_000059.4(BRCA2):c.9116C>G (p.Pro3039Arg)
|
rs80359167
|
0.00003
|
|
NM_000059.4(BRCA2):c.9190G>A (p.Asp3064Asn)
|
rs80359177
|
0.00003
|
|
NM_000059.4(BRCA2):c.9237T>C (p.Val3079=)
|
rs80359805
|
0.00003
|
|
NM_000059.4(BRCA2):c.9253A>C (p.Thr3085Pro)
|
rs397507423
|
0.00003
|
|
NM_000059.4(BRCA2):c.9271G>A (p.Val3091Ile)
|
rs80359194
|
0.00003
|
|
NM_000059.4(BRCA2):c.9458G>C (p.Gly3153Ala)
|
rs80359220
|
0.00003
|
|
NM_000064.4(C3):c.4520G>A (p.Arg1507His)
|
rs551187980
|
0.00003
|
|
NM_000069.3(CACNA1S):c.2381G>A (p.Arg794His)
|
rs760674518
|
0.00003
|
|
NM_000069.3(CACNA1S):c.3113G>A (p.Arg1038His)
|
rs774884290
|
0.00003
|
|
NM_000069.3(CACNA1S):c.3890G>A (p.Gly1297Glu)
|
rs749856222
|
0.00003
|
|
NM_000069.3(CACNA1S):c.409G>A (p.Val137Met)
|
rs753195502
|
0.00003
|
|
NM_000069.3(CACNA1S):c.482T>C (p.Val161Ala)
|
rs141521945
|
0.00003
|
|
NM_000069.3(CACNA1S):c.670A>G (p.Lys224Glu)
|
rs374763528
|
0.00003
|
|
NM_000070.3(CAPN3):c.1077G>A (p.Pro359=)
|
rs759384108
|
0.00003
|
|
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln)
|
rs756467921
|
0.00003
|
|
NM_000071.3(CBS):c.924C>T (p.Tyr308=)
|
rs149809170
|
0.00003
|
|
NM_000079.4(CHRNA1):c.912C>T (p.Phe304=)
|
rs373005571
|
0.00003
|
|
NM_000080.4(CHRNE):c.802+7A>C
|
rs756213406
|
0.00003
|
|
NM_000081.4(LYST):c.10758C>T (p.Cys3586=)
|
rs145136281
|
0.00003
|
|
NM_000081.4(LYST):c.4566A>C (p.Ala1522=)
|
rs142344106
|
0.00003
|
|
NM_000081.4(LYST):c.4632C>T (p.Ser1544=)
|
rs373930104
|
0.00003
|
|
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val)
|
rs150796358
|
0.00003
|
|
NM_000088.4(COL1A1):c.1532G>A (p.Arg511His)
|
rs780422688
|
0.00003
|
|
NM_000088.4(COL1A1):c.3258C>T (p.Pro1086=)
|
rs200319927
|
0.00003
|
|
NM_000088.4(COL1A1):c.4369G>A (p.Asp1457Asn)
|
rs761895918
|
0.00003
|
|
NM_000089.4(COL1A2):c.2799T>C (p.Asp933=)
|
rs751960243
|
0.00003
|
|
NM_000090.4(COL3A1):c.1816-4T>C
|
rs765128089
|
0.00003
|
|
NM_000090.4(COL3A1):c.2446-10T>C
|
rs1060500195
|
0.00003
|
|
NM_000090.4(COL3A1):c.2550T>C (p.Pro850=)
|
rs794727586
|
0.00003
|
|
NM_000090.4(COL3A1):c.3576C>T (p.Ala1192=)
|
rs574331101
|
0.00003
|
|
NM_000091.5(COL4A3):c.3337+6G>C
|
rs1008678288
|
0.00003
|
|
NM_000091.5(COL4A3):c.4678G>A (p.Val1560Ile)
|
rs574102153
|
0.00003
|
|
NM_000093.5(COL5A1):c.774T>C (p.Asn258=)
|
rs199742873
|
0.00003
|
|
NM_000094.4(COL7A1):c.1186A>T (p.Ser396Cys)
|
rs202192755
|
0.00003
|
|
NM_000094.4(COL7A1):c.1936G>C (p.Asp646His)
|
rs765663530
|
0.00003
|
|
NM_000094.4(COL7A1):c.2045G>A (p.Arg682Gln)
|
rs772900092
|
0.00003
|
|
NM_000094.4(COL7A1):c.2100A>C (p.Ser700=)
|
rs756201098
|
0.00003
|
|
NM_000094.4(COL7A1):c.3064G>A (p.Val1022Ile)
|
rs562548943
|
0.00003
|
|
NM_000094.4(COL7A1):c.4782+9A>T
|
rs369635501
|
0.00003
|
|
NM_000094.4(COL7A1):c.6261C>A (p.Pro2087=)
|
rs761393259
|
0.00003
|
|
NM_000094.4(COL7A1):c.6730C>G (p.Pro2244Ala)
|
rs772457877
|
0.00003
|
|
NM_000094.4(COL7A1):c.8289C>T (p.Gly2763=)
|
rs763764765
|
0.00003
|
|
NM_000094.4(COL7A1):c.8505C>T (p.Arg2835=)
|
rs748854889
|
0.00003
|
|
NM_000094.4(COL7A1):c.8783G>A (p.Arg2928His)
|
rs758740269
|
0.00003
|
|
NM_000096.4(CP):c.1575A>G (p.Val525=)
|
rs760634973
|
0.00003
|
|
NM_000098.3(CPT2):c.852C>T (p.Pro284=)
|
rs138575554
|
0.00003
|
|
NM_000098.3(CPT2):c.985G>T (p.Asp329Tyr)
|
rs750191719
|
0.00003
|
|
NM_000100.4(CSTB):c.9C>T (p.Cys3=)
|
rs555930471
|
0.00003
|
|
NM_000110.4(DPYD):c.1796T>C (p.Met599Thr)
|
rs147601618
|
0.00003
|
|
NM_000113.3(TOR1A):c.990C>T (p.Tyr330=)
|
rs148849547
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val)
|
rs200909606
|
0.00003
|
|
NM_000117.3(EMD):c.173C>T (p.Ser58Phe)
|
rs781797234
|
0.00003
|
|
NM_000117.3(EMD):c.243C>T (p.Asp81=)
|
rs150757295
|
0.00003
|
|
NM_000117.3(EMD):c.449+5G>A
|
rs370840449
|
0.00003
|
|
NM_000122.2(ERCC3):c.658-7C>G
|
rs200361738
|
0.00003
|
|
NM_000123.4(ERCC5):c.2898C>T (p.Phe966=)
|
rs535585040
|
0.00003
|
|
NM_000124.4(ERCC6):c.4393G>A (p.Val1465Ile)
|
rs201813523
|
0.00003
|
|
NM_000126.4(ETFA):c.720A>G (p.Gln240=)
|
rs756864231
|
0.00003
|
|
NM_000127.3(EXT1):c.1781C>G (p.Ala594Gly)
|
rs374887549
|
0.00003
|
|
NM_000128.4(F11):c.1683C>T (p.Ala561=)
|
rs770473069
|
0.00003
|
|
NM_000130.5(F5):c.1034G>A (p.Arg345Gln)
|
rs201078171
|
0.00003
|
|
NM_000130.5(F5):c.738A>G (p.Thr246=)
|
rs375739973
|
0.00003
|
|
NM_000133.4(F9):c.391+4A>G
|
rs749754992
|
0.00003
|
|
NM_000135.4(FANCA):c.1209G>A (p.Ala403=)
|
rs773318145
|
0.00003
|
|
NM_000135.4(FANCA):c.1459C>T (p.Arg487Trp)
|
rs143083764
|
0.00003
|
|
NM_000135.4(FANCA):c.1772G>A (p.Arg591Gln)
|
rs778093769
|
0.00003
|
|
NM_000135.4(FANCA):c.1815G>A (p.Glu605=)
|
rs773613283
|
0.00003
|
|
NM_000135.4(FANCA):c.1964C>G (p.Ala655Gly)
|
rs1306842168
|
0.00003
|
|
NM_000135.4(FANCA):c.2958C>T (p.Asn986=)
|
rs368953287
|
0.00003
|
|
NM_000135.4(FANCA):c.3297G>C (p.Gln1099His)
|
rs779268656
|
0.00003
|
|
NM_000135.4(FANCA):c.3349-11C>A
|
rs1190325114
|
0.00003
|
|
NM_000135.4(FANCA):c.3610C>T (p.Arg1204Trp)
|
rs759303096
|
0.00003
|
|
NM_000135.4(FANCA):c.361G>A (p.Val121Met)
|
rs780035612
|
0.00003
|
|
NM_000135.4(FANCA):c.3627-8T>G
|
rs77877981
|
0.00003
|
|
NM_000135.4(FANCA):c.457C>G (p.Gln153Glu)
|
rs774448881
|
0.00003
|
|
NM_000135.4(FANCA):c.522+9G>C
|
rs113051956
|
0.00003
|
|
NM_000135.4(FANCA):c.553C>A (p.Leu185Ile)
|
rs587778323
|
0.00003
|
|
NM_000136.3(FANCC):c.1330-6G>T
|
rs1223668739
|
0.00003
|
|
NM_000136.3(FANCC):c.438T>C (p.Tyr146=)
|
rs765990832
|
0.00003
|
|
NM_000137.4(FAH):c.1029G>A (p.Gly343=)
|
rs772334351
|
0.00003
|
|
NM_000137.4(FAH):c.10A>C (p.Ile4Leu)
|
rs754336457
|
0.00003
|
|
NM_000138.5(FBN1):c.1277C>T (p.Pro426Leu)
|
rs146044644
|
0.00003
|
|
NM_000138.5(FBN1):c.139G>A (p.Gly47Ser)
|
rs762400500
|
0.00003
|
|
NM_000138.5(FBN1):c.1668G>A (p.Val556=)
|
rs761662654
|
0.00003
|
|
NM_000138.5(FBN1):c.1747C>T (p.Leu583Phe)
|
rs767293952
|
0.00003
|
|
NM_000138.5(FBN1):c.2056G>A (p.Ala686Thr)
|
rs377621293
|
0.00003
|
|
NM_000138.5(FBN1):c.2735A>G (p.Asp912Gly)
|
rs754919275
|
0.00003
|
|
NM_000138.5(FBN1):c.2930T>G (p.Met977Arg)
|
rs199682686
|
0.00003
|
|
NM_000138.5(FBN1):c.3216C>T (p.Asp1072=)
|
rs757177349
|
0.00003
|
|
NM_000138.5(FBN1):c.3523A>G (p.Ile1175Val)
|
rs756754760
|
0.00003
|
|
NM_000138.5(FBN1):c.378A>G (p.Gly126=)
|
rs149611106
|
0.00003
|
|
NM_000138.5(FBN1):c.4337-5C>G
|
rs370959127
|
0.00003
|
|
NM_000138.5(FBN1):c.5066-7C>G
|
rs377369765
|
0.00003
|
|
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln)
|
rs143863014
|
0.00003
|
|
NM_000138.5(FBN1):c.8202C>T (p.Asn2734=)
|
rs113904256
|
0.00003
|
|
NM_000138.5(FBN1):c.885T>G (p.Ile295Met)
|
rs151056963
|
0.00003
|
|
NM_000141.5(FGFR2):c.2195+7G>A
|
rs377397478
|
0.00003
|
|
NM_000142.5(FGFR3):c.1002C>T (p.Ala334=)
|
rs376787929
|
0.00003
|
|
NM_000142.5(FGFR3):c.1596C>T (p.Ile532=)
|
rs528979086
|
0.00003
|
|
NM_000143.4(FH):c.305C>T (p.Ala102Val)
|
rs61753295
|
0.00003
|
|
NM_000143.4(FH):c.40C>T (p.Leu14Phe)
|
rs981562354
|
0.00003
|
|
NM_000151.4(G6PC1):c.993G>A (p.Ala331=)
|
rs369238258
|
0.00003
|
|
NM_000152.5(GAA):c.1075+12T>G
|
rs370842677
|
0.00003
|
|
NM_000152.5(GAA):c.1411G>A (p.Glu471Lys)
|
rs189402693
|
0.00003
|
|
NM_000152.5(GAA):c.1437+8G>A
|
rs779194427
|
0.00003
|
|
NM_000152.5(GAA):c.2132C>G (p.Thr711Arg)
|
rs759292700
|
0.00003
|
|
NM_000152.5(GAA):c.2154C>T (p.Val718=)
|
rs1800311
|
0.00003
|
|
NM_000152.5(GAA):c.2190-4G>A
|
rs759974338
|
0.00003
|
|
NM_000152.5(GAA):c.2656G>A (p.Val886Met)
|
rs372802420
|
0.00003
|
|
NM_000152.5(GAA):c.2739C>G (p.Pro913=)
|
rs370765733
|
0.00003
|
|
NM_000152.5(GAA):c.277G>A (p.Ala93Thr)
|
rs142481170
|
0.00003
|
|
NM_000152.5(GAA):c.955+14C>A
|
rs756921041
|
0.00003
|
|
NM_000153.4(GALC):c.192C>T (p.Gly64=)
|
rs753287800
|
0.00003
|
|
NM_000156.6(GAMT):c.298C>T (p.Arg100Trp)
|
rs552210450
|
0.00003
|
|
NM_000158.4(GBE1):c.143+8C>G
|
rs750447886
|
0.00003
|
|
NM_000159.4(GCDH):c.876C>T (p.Asn292=)
|
rs1438245420
|
0.00003
|
|
NM_000162.5(GCK):c.198A>G (p.Pro66=)
|
rs377410513
|
0.00003
|
|
NM_000166.6(GJB1):c.297A>G (p.Gln99=)
|
rs1213746899
|
0.00003
|
|
NM_000166.6(GJB1):c.689G>T (p.Arg230Leu)
|
rs780335726
|
0.00003
|
|
NM_000166.6(GJB1):c.830G>A (p.Ser277Asn)
|
rs748095080
|
0.00003
|
|
NM_000169.3(GLA):c.639+6A>C
|
rs200096940
|
0.00003
|
|
NM_000169.3(GLA):c.714T>C (p.Ser238=)
|
rs397515872
|
0.00003
|
|
NM_000170.3(GLDC):c.1453T>C (p.Leu485=)
|
rs760562478
|
0.00003
|
|
NM_000170.3(GLDC):c.262G>A (p.Asp88Asn)
|
rs770826242
|
0.00003
|
|
NM_000179.3(MSH6):c.-2G>T
|
rs374748889
|
0.00003
|
|
NM_000179.3(MSH6):c.-8C>T
|
rs565211544
|
0.00003
|
|
NM_000179.3(MSH6):c.115G>A (p.Gly39Arg)
|
rs751838296
|
0.00003
|
|
NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg)
|
rs63749973
|
0.00003
|
|
NM_000179.3(MSH6):c.1822A>G (p.Ile608Val)
|
rs201613780
|
0.00003
|
|
NM_000179.3(MSH6):c.1870G>A (p.Gly624Ser)
|
rs868760377
|
0.00003
|
|
NM_000179.3(MSH6):c.240A>G (p.Val80=)
|
rs864622281
|
0.00003
|
|
NM_000179.3(MSH6):c.2780T>C (p.Ile927Thr)
|
rs587779926
|
0.00003
|
|
NM_000179.3(MSH6):c.3071G>A (p.Arg1024Gln)
|
rs372705506
|
0.00003
|
|
NM_000179.3(MSH6):c.3173-10C>T
|
rs587780559
|
0.00003
|
|
NM_000179.3(MSH6):c.3284G>A (p.Arg1095His)
|
rs63750253
|
0.00003
|
|
NM_000179.3(MSH6):c.3787C>T (p.Arg1263Cys)
|
rs367912290
|
0.00003
|
|
NM_000179.3(MSH6):c.4002-14T>C
|
rs587781041
|
0.00003
|
|
NM_000179.3(MSH6):c.532C>T (p.Arg178Cys)
|
rs730881813
|
0.00003
|
|
NM_000179.3(MSH6):c.956C>T (p.Thr319Met)
|
rs188252826
|
0.00003
|
|
NM_000187.4(HGD):c.765T>C (p.Ala255=)
|
rs747764475
|
0.00003
|
|
NM_000207.3(INS):c.130G>A (p.Gly44Arg)
|
rs765512575
|
0.00003
|
|
NM_000207.3(INS):c.66C>T (p.Ala22=)
|
rs375371953
|
0.00003
|
|
NM_000214.3(JAG1):c.48C>A (p.Leu16=)
|
rs901489977
|
0.00003
|
|
NM_000215.4(JAK3):c.3213C>T (p.His1071=)
|
rs757910571
|
0.00003
|
|
NM_000215.4(JAK3):c.3267C>T (p.Ser1089=)
|
rs138593705
|
0.00003
|
|
NM_000217.3(KCNA1):c.1464G>A (p.Lys488=)
|
rs147828649
|
0.00003
|
|
NM_000218.3(KCNQ1):c.1514+3G>A
|
rs374767819
|
0.00003
|
|
NM_000218.3(KCNQ1):c.683+3G>A
|
rs1025802726
|
0.00003
|
|
NM_000219.6(KCNE1):c.107G>A (p.Arg36His)
|
rs199473351
|
0.00003
|
|
NM_000219.6(KCNE1):c.163G>A (p.Gly55Ser)
|
rs199473644
|
0.00003
|
|
NM_000235.4(LIPA):c.111+13A>G
|
rs375237841
|
0.00003
|
|
NM_000235.4(LIPA):c.846A>G (p.Thr282=)
|
rs534838107
|
0.00003
|
|
NM_000237.3(LPL):c.112G>A (p.Glu38Lys)
|
rs557015233
|
0.00003
|
|
NM_000238.4(KCNH2):c.1128+1830C>T
|
rs778819756
|
0.00003
|
|
NM_000238.4(KCNH2):c.2600T>C (p.Met867Thr)
|
rs752020408
|
0.00003
|
|
NM_000238.4(KCNH2):c.2624C>T (p.Thr875Met)
|
rs140743924
|
0.00003
|
|
NM_000238.4(KCNH2):c.2792C>T (p.Pro931Leu)
|
rs749759697
|
0.00003
|
|
NM_000238.4(KCNH2):c.3072C>T (p.Asn1024=)
|
rs781274793
|
0.00003
|
|
NM_000238.4(KCNH2):c.76+3G>A
|
rs779301847
|
0.00003
|
|
NM_000243.3(MEFV):c.1179C>T (p.Pro393=)
|
rs104895082
|
0.00003
|
|
NM_000243.3(MEFV):c.1533G>A (p.Ala511=)
|
rs771061550
|
0.00003
|
|
NM_000243.3(MEFV):c.1758T>C (p.Asn586=)
|
rs202228332
|
0.00003
|
|
NM_000243.3(MEFV):c.1803T>A (p.Ile601=)
|
rs779572391
|
0.00003
|
|
NM_000243.3(MEFV):c.2123G>A (p.Arg708His)
|
rs200375017
|
0.00003
|
|
NM_000243.3(MEFV):c.2164G>A (p.Val722Met)
|
rs104895201
|
0.00003
|
|
NM_000243.3(MEFV):c.2263A>G (p.Ile755Val)
|
rs104895194
|
0.00003
|
|
NM_000243.3(MEFV):c.456G>A (p.Gly152=)
|
rs368333568
|
0.00003
|
|
NM_000243.3(MEFV):c.539C>T (p.Pro180Leu)
|
rs104895134
|
0.00003
|
|
NM_000245.4(MET):c.1643C>T (p.Ser548Leu)
|
rs767715328
|
0.00003
|
|
NM_000246.4(CIITA):c.2409G>A (p.Ala803=)
|
rs755302593
|
0.00003
|
|
NM_000246.4(CIITA):c.2442C>T (p.His814=)
|
rs746490057
|
0.00003
|
|
NM_000246.4(CIITA):c.3357C>T (p.His1119=)
|
rs754706834
|
0.00003
|
|
NM_000246.4(CIITA):c.772+9G>A
|
rs750572482
|
0.00003
|
|
NM_000246.4(CIITA):c.948G>A (p.Thr316=)
|
rs369971838
|
0.00003
|
|
NM_000249.4(MLH1):c.116+5G>A
|
rs267607710
|
0.00003
|
|
NM_000249.4(MLH1):c.1514G>A (p.Ser505Asn)
|
rs771044689
|
0.00003
|
|
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu)
|
rs56185292
|
0.00003
|
|
NM_000249.4(MLH1):c.1743G>A (p.Pro581=)
|
rs567838745
|
0.00003
|
|
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser)
|
rs63750952
|
0.00003
|
|
NM_000249.4(MLH1):c.1976G>A (p.Arg659Gln)
|
rs63749900
|
0.00003
|
|
NM_000249.4(MLH1):c.286A>G (p.Thr96Ala)
|
rs770276731
|
0.00003
|
|
NM_000249.4(MLH1):c.376T>A (p.Tyr126Asn)
|
rs200076893
|
0.00003
|
|
NM_000249.4(MLH1):c.453+20G>T
|
rs759417195
|
0.00003
|
|
NM_000249.4(MLH1):c.539T>G (p.Val180Gly)
|
rs63750102
|
0.00003
|
|
NM_000249.4(MLH1):c.644A>G (p.Asn215Ser)
|
rs267607775
|
0.00003
|
|
NM_000249.4(MLH1):c.94A>G (p.Ile32Val)
|
rs2020872
|
0.00003
|
|
NM_000251.3(MSH2):c.1144C>T (p.Arg382Cys)
|
rs752373431
|
0.00003
|
|
NM_000251.3(MSH2):c.1204C>A (p.Gln402Lys)
|
rs63751412
|
0.00003
|
|
NM_000251.3(MSH2):c.1331G>T (p.Arg444Leu)
|
rs557339938
|
0.00003
|
|
NM_000251.3(MSH2):c.1382A>C (p.Asp461Ala)
|
rs730881756
|
0.00003
|
|
NM_000251.3(MSH2):c.1429A>C (p.Asn477His)
|
rs587781346
|
0.00003
|
|
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln)
|
rs56170584
|
0.00003
|
|
NM_000251.3(MSH2):c.1724A>G (p.Asp575Gly)
|
rs370330868
|
0.00003
|
|
NM_000251.3(MSH2):c.1760-16T>G
|
rs768370188
|
0.00003
|
|
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg)
|
rs587779965
|
0.00003
|
|
NM_000251.3(MSH2):c.1863A>T (p.Arg621=)
|
rs786203119
|
0.00003
|
|
NM_000251.3(MSH2):c.1963G>A (p.Val655Ile)
|
rs549467183
|
0.00003
|
|
NM_000251.3(MSH2):c.211+8C>T
|
rs267607916
|
0.00003
|
|
NM_000251.3(MSH2):c.2138G>A (p.Gly713Glu)
|
rs753555602
|
0.00003
|
|
NM_000251.3(MSH2):c.2211-5T>G
|
rs368596736
|
0.00003
|
|
NM_000251.3(MSH2):c.2458+8C>G
|
rs189025757
|
0.00003
|
|
NM_000251.3(MSH2):c.2517T>A (p.His839Gln)
|
rs267608016
|
0.00003
|
|
NM_000251.3(MSH2):c.2528G>A (p.Cys843Tyr)
|
rs747700106
|
0.00003
|
|
NM_000251.3(MSH2):c.2556G>C (p.Glu852Asp)
|
rs587781453
|
0.00003
|
|
NM_000251.3(MSH2):c.2558A>C (p.Glu853Ala)
|
rs63750797
|
0.00003
|
|
NM_000251.3(MSH2):c.260C>G (p.Ser87Cys)
|
rs587781447
|
0.00003
|
|
NM_000251.3(MSH2):c.2801C>A (p.Thr934Lys)
|
rs587779969
|
0.00003
|
|
NM_000251.3(MSH2):c.409G>C (p.Gly137Arg)
|
rs587781795
|
0.00003
|
|
NM_000251.3(MSH2):c.74G>A (p.Gly25Asp)
|
rs767747378
|
0.00003
|
|
NM_000251.3(MSH2):c.835C>G (p.Leu279Val)
|
rs375351205
|
0.00003
|
|
NM_000251.3(MSH2):c.874A>T (p.Thr292Ser)
|
rs104895022
|
0.00003
|
|
NM_000251.3(MSH2):c.968C>G (p.Ser323Cys)
|
rs63750732
|
0.00003
|
|
NM_000251.3(MSH2):c.991A>G (p.Asn331Asp)
|
rs267607938
|
0.00003
|
|
NM_000255.4(MMUT):c.1614C>T (p.Thr538=)
|
rs766999822
|
0.00003
|
|
NM_000256.3(MYBPC3):c.3191-7C>T
|
rs373012629
|
0.00003
|
|
NM_000256.3(MYBPC3):c.3472G>A (p.Val1158Ile)
|
rs542350927
|
0.00003
|
|
NM_000256.3(MYBPC3):c.667G>A (p.Glu223Lys)
|
rs397516069
|
0.00003
|
|
NM_000256.3(MYBPC3):c.927-10C>T
|
rs201078659
|
0.00003
|
|
NM_000257.4(MYH7):c.1632C>T (p.Thr544=)
|
rs587781089
|
0.00003
|
|
NM_000257.4(MYH7):c.1983C>T (p.Asn661=)
|
rs146474860
|
0.00003
|
|
NM_000257.4(MYH7):c.540C>A (p.Ser180=)
|
rs369490861
|
0.00003
|
|
NM_000260.4(MYO7A):c.1606G>A (p.Ala536Thr)
|
rs201046979
|
0.00003
|
|
NM_000260.4(MYO7A):c.2656G>A (p.Ala886Thr)
|
rs782726270
|
0.00003
|
|
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser)
|
rs397516302
|
0.00003
|
|
NM_000260.4(MYO7A):c.3745C>T (p.Leu1249=)
|
rs569293775
|
0.00003
|
|
NM_000260.4(MYO7A):c.397C>A (p.His133Asn)
|
rs111033403
|
0.00003
|
|
NM_000260.4(MYO7A):c.4009G>A (p.Glu1337Lys)
|
rs369375331
|
0.00003
|
|
NM_000260.4(MYO7A):c.4488G>A (p.Thr1496=)
|
rs376743356
|
0.00003
|
|
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val)
|
rs111033511
|
0.00003
|
|
NM_000260.4(MYO7A):c.5264C>T (p.Ala1755Val)
|
rs574917232
|
0.00003
|
|
NM_000260.4(MYO7A):c.562C>G (p.Gln188Glu)
|
rs572959359
|
0.00003
|
|
NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln)
|
rs774971794
|
0.00003
|
|
NM_000264.5(PTCH1):c.139C>T (p.Arg47Trp)
|
rs138729094
|
0.00003
|
|
NM_000264.5(PTCH1):c.1420G>A (p.Val474Ile)
|
rs766898310
|
0.00003
|
|
NM_000264.5(PTCH1):c.1989G>C (p.Gln663His)
|
rs753002023
|
0.00003
|
|
NM_000264.5(PTCH1):c.2184G>A (p.Thr728=)
|
rs201103723
|
0.00003
|
|
NM_000264.5(PTCH1):c.2989A>G (p.Ile997Val)
|
rs774440323
|
0.00003
|
|
NM_000264.5(PTCH1):c.3247G>A (p.Val1083Met)
|
rs202052415
|
0.00003
|
|
NM_000264.5(PTCH1):c.3629C>T (p.Pro1210Leu)
|
rs781062564
|
0.00003
|
|
NM_000264.5(PTCH1):c.3890G>A (p.Arg1297Gln)
|
rs386833412
|
0.00003
|
|
NM_000264.5(PTCH1):c.4171C>T (p.Arg1391Trp)
|
rs45535032
|
0.00003
|
|
NM_000264.5(PTCH1):c.46G>A (p.Gly16Ser)
|
rs1057515721
|
0.00003
|
|
NM_000264.5(PTCH1):c.727T>C (p.Ser243Pro)
|
rs372422922
|
0.00003
|
|
NM_000266.4(NDP):c.269G>A (p.Arg90His)
|
rs104894867
|
0.00003
|
|
NM_000266.4(NDP):c.58G>A (p.Gly20Arg)
|
rs200594881
|
0.00003
|
|
NM_000268.4(NF2):c.1774T>C (p.Phe592Leu)
|
rs764972504
|
0.00003
|
|
NM_000271.5(NPC1):c.2130+10C>G
|
rs776389852
|
0.00003
|
|
NM_000271.5(NPC1):c.2820G>A (p.Ser940=)
|
rs754664476
|
0.00003
|
|
NM_000271.5(NPC1):c.2832C>T (p.Asp944=)
|
rs780019300
|
0.00003
|
|
NM_000282.4(PCCA):c.1929C>T (p.Ala643=)
|
rs772945583
|
0.00003
|
|
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys)
|
rs774738181
|
0.00003
|
|
NM_000288.4(PEX7):c.576C>T (p.Ile192=)
|
rs776411851
|
0.00003
|
|
NM_000288.4(PEX7):c.903+8A>G
|
rs779919482
|
0.00003
|
|
NM_000293.3(PHKB):c.204C>T (p.Thr68=)
|
rs759882590
|
0.00003
|
|
NM_000302.4(PLOD1):c.1818C>A (p.Ile606=)
|
rs372579008
|
0.00003
|
|
NM_000302.4(PLOD1):c.303-10C>T
|
rs750987724
|
0.00003
|
|
NM_000302.4(PLOD1):c.813C>T (p.Asp271=)
|
rs373471550
|
0.00003
|
|
NM_000303.3(PMM2):c.597C>T (p.Asp199=)
|
rs376412367
|
0.00003
|
|
NM_000303.3(PMM2):c.712C>T (p.Arg238Cys)
|
rs142459706
|
0.00003
|
|
NM_000306.4(POU1F1):c.456T>C (p.Asn152=)
|
rs886058914
|
0.00003
|
|
NM_000307.5(POU3F4):c.588G>C (p.Gln196His)
|
rs770776910
|
0.00003
|
|
NM_000308.4(CTSA):c.692+13G>A
|
rs371053390
|
0.00003
|
|
NM_000310.4(PPT1):c.282A>G (p.Thr94=)
|
rs753828114
|
0.00003
|
|
NM_000314.8(PTEN):c.-105G>T
|
rs1316552000
|
0.00003
|
|
NM_000314.8(PTEN):c.-799G>C
|
rs587779992
|
0.00003
|
|
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln)
|
rs375709098
|
0.00003
|
|
NM_000314.8(PTEN):c.159A>G (p.Val53=)
|
rs189583426
|
0.00003
|
|
NM_000316.3(PTH1R):c.1728T>C (p.Ser576=)
|
rs201013164
|
0.00003
|
|
NM_000321.3(RB1):c.1814+3A>G
|
rs376886420
|
0.00003
|
|
NM_000321.3(RB1):c.80C>G (p.Pro27Arg)
|
rs925399787
|
0.00003
|
|
NM_000330.4(RS1):c.184+3194A>G
|
rs587783162
|
0.00003
|
|
NM_000330.4(RS1):c.234G>A (p.Pro78=)
|
rs183092299
|
0.00003
|
|
NM_000334.4(SCN4A):c.354C>T (p.Ser118=)
|
rs753453769
|
0.00003
|
|
NM_000335.5(SCN5A):c.1558A>G (p.Met520Val)
|
rs769799503
|
0.00003
|
|
NM_000335.5(SCN5A):c.21T>A (p.Pro7=)
|
rs587781157
|
0.00003
|
|
NM_000335.5(SCN5A):c.3206C>T (p.Thr1069Met)
|
rs199473187
|
0.00003
|
|
NM_000335.5(SCN5A):c.3388-3T>C
|
rs949932623
|
0.00003
|
|
NM_000335.5(SCN5A):c.3517C>T (p.Arg1173Trp)
|
rs367906630
|
0.00003
|
|
NM_000335.5(SCN5A):c.3715G>C (p.Glu1239Gln)
|
rs199473211
|
0.00003
|
|
NM_000335.5(SCN5A):c.3837C>T (p.Asp1279=)
|
rs749069817
|
0.00003
|
|
NM_000335.5(SCN5A):c.5767G>A (p.Ala1923Thr)
|
rs137854603
|
0.00003
|
|
NM_000338.3(SLC12A1):c.1149C>T (p.Val383=)
|
rs368339306
|
0.00003
|
|
NM_000341.4(SLC3A1):c.1826A>G (p.Asn609Ser)
|
rs200592320
|
0.00003
|
|
NM_000342.4(SLC4A1):c.713A>T (p.Glu238Val)
|
rs571740084
|
0.00003
|
|
NM_000342.4(SLC4A1):c.877-3dup
|
rs747181893
|
0.00003
|
|
NM_000350.3(ABCA4):c.1003C>T (p.Leu335Phe)
|
rs1057520668
|
0.00003
|
|
NM_000350.3(ABCA4):c.1937+15C>T
|
rs774567553
|
0.00003
|
|
NM_000350.3(ABCA4):c.2311A>T (p.Thr771Ser)
|
rs758090662
|
0.00003
|
|
NM_000352.6(ABCC8):c.1332+9T>C
|
rs775059899
|
0.00003
|
|
NM_000352.6(ABCC8):c.1407A>C (p.Leu469=)
|
rs751643248
|
0.00003
|
|
NM_000352.6(ABCC8):c.2235C>T (p.Ser745=)
|
rs200708414
|
0.00003
|
|
NM_000352.6(ABCC8):c.3439C>T (p.Leu1147=)
|
rs372257088
|
0.00003
|
|
NM_000352.6(ABCC8):c.3462C>T (p.Ala1154=)
|
rs540122589
|
0.00003
|
|
NM_000352.6(ABCC8):c.3918C>G (p.Leu1306=)
|
rs372186045
|
0.00003
|
|
NM_000355.4(TCN2):c.882C>T (p.Pro294=)
|
rs142689742
|
0.00003
|
|
NM_000359.3(TGM1):c.2337C>T (p.His779=)
|
rs755635993
|
0.00003
|
|
NM_000359.3(TGM1):c.248G>A (p.Arg83Gln)
|
rs771051927
|
0.00003
|
|
NM_000360.4(TH):c.171C>T (p.Ala57=)
|
rs771152796
|
0.00003
|
|
NM_000360.4(TH):c.225G>A (p.Glu75=)
|
rs558597025
|
0.00003
|
|
NM_000360.4(TH):c.365G>A (p.Arg122Gln)
|
rs201093528
|
0.00003
|
|
NM_000362.5(TIMP3):c.459G>A (p.Leu153=)
|
rs757458960
|
0.00003
|
|
NM_000363.5(TNNI3):c.-8G>A
|
rs773513015
|
0.00003
|
|
NM_000363.5(TNNI3):c.304G>A (p.Ala102Thr)
|
rs374618872
|
0.00003
|
|
NM_000368.5(TSC1):c.1922C>A (p.Pro641His)
|
rs397514863
|
0.00003
|
|
NM_000368.5(TSC1):c.2357G>A (p.Arg786Gln)
|
rs1336228562
|
0.00003
|
|
NM_000368.5(TSC1):c.2968G>A (p.Glu990Lys)
|
rs200398750
|
0.00003
|
|
NM_000368.5(TSC1):c.3428C>T (p.Pro1143Leu)
|
rs201867031
|
0.00003
|
|
NM_000368.5(TSC1):c.3439A>G (p.Ser1147Gly)
|
rs768624733
|
0.00003
|
|
NM_000368.5(TSC1):c.503A>C (p.Lys168Thr)
|
rs1007335343
|
0.00003
|
|
NM_000368.5(TSC1):c.568C>T (p.Arg190Cys)
|
rs118203400
|
0.00003
|
|
NM_000368.5(TSC1):c.850C>T (p.Arg284Cys)
|
rs140544652
|
0.00003
|
|
NM_000368.5(TSC1):c.941C>T (p.Thr314Met)
|
rs373454700
|
0.00003
|
|
NM_000370.3(TTPA):c.338A>G (p.Lys113Arg)
|
rs200547556
|
0.00003
|
|
NM_000370.3(TTPA):c.553-6C>T
|
rs761911043
|
0.00003
|
|
NM_000371.4(TTR):c.70-9T>C
|
rs764059061
|
0.00003
|
|
NM_000377.3(WAS):c.1388C>T (p.Ser463Leu)
|
rs782636781
|
0.00003
|
|
NM_000383.4(AIRE):c.1327G>A (p.Val443Met)
|
rs557522986
|
0.00003
|
|
NM_000383.4(AIRE):c.1347C>T (p.Cys449=)
|
rs367619299
|
0.00003
|
|
NM_000383.4(AIRE):c.1400+7G>C
|
rs781592443
|
0.00003
|
|
NM_000383.4(AIRE):c.1563C>T (p.Ser521=)
|
rs746873146
|
0.00003
|
|
NM_000383.4(AIRE):c.1620G>A (p.Ala540=)
|
rs372219460
|
0.00003
|
|
NM_000384.3(APOB):c.11108G>A (p.Arg3703His)
|
rs1414976234
|
0.00003
|
|
NM_000384.3(APOB):c.12765C>T (p.Phe4255=)
|
rs746160756
|
0.00003
|
|
NM_000384.3(APOB):c.13566C>T (p.Asp4522=)
|
rs371437581
|
0.00003
|
|
NM_000384.3(APOB):c.13586A>G (p.His4529Arg)
|
rs958014928
|
0.00003
|
|
NM_000384.3(APOB):c.13607C>T (p.Thr4536Met)
|
rs748727595
|
0.00003
|
|
NM_000384.3(APOB):c.2170G>T (p.Gly724Cys)
|
rs143425834
|
0.00003
|
|
NM_000384.3(APOB):c.218C>A (p.Ala73Asp)
|
rs377171241
|
0.00003
|
|
NM_000384.3(APOB):c.3851G>A (p.Arg1284Gln)
|
rs372154910
|
0.00003
|
|
NM_000384.3(APOB):c.4352G>T (p.Gly1451Val)
|
rs777471630
|
0.00003
|
|
NM_000384.3(APOB):c.4954A>C (p.Ile1652Leu)
|
rs776008744
|
0.00003
|
|
NM_000384.3(APOB):c.5164G>A (p.Asp1722Asn)
|
rs757793421
|
0.00003
|
|
NM_000384.3(APOB):c.571A>G (p.Thr191Ala)
|
rs1318040190
|
0.00003
|
|
NM_000384.3(APOB):c.598G>A (p.Ala200Thr)
|
rs763878189
|
0.00003
|
|
NM_000384.3(APOB):c.5991T>A (p.Asp1997Glu)
|
rs768045701
|
0.00003
|
|
NM_000384.3(APOB):c.7565G>A (p.Arg2522Gln)
|
rs781243278
|
0.00003
|
|
NM_000384.3(APOB):c.7585C>A (p.Gln2529Lys)
|
rs747140161
|
0.00003
|
|
NM_000384.3(APOB):c.8258C>G (p.Pro2753Arg)
|
rs765290152
|
0.00003
|
|
NM_000384.3(APOB):c.8299C>T (p.Pro2767Ser)
|
rs138465008
|
0.00003
|
|
NM_000384.3(APOB):c.8693T>C (p.Leu2898Pro)
|
rs376974746
|
0.00003
|
|
NM_000384.3(APOB):c.8840G>C (p.Ser2947Thr)
|
rs183475426
|
0.00003
|
|
NM_000384.3(APOB):c.889C>T (p.Arg297Cys)
|
rs766376456
|
0.00003
|
|
NM_000384.3(APOB):c.9077A>T (p.Asn3026Ile)
|
rs770981667
|
0.00003
|
|
NM_000388.4(CASR):c.1668G>A (p.Glu556=)
|
rs186279271
|
0.00003
|
|
NM_000391.4(TPP1):c.891G>T (p.Arg297=)
|
rs750527536
|
0.00003
|
|
NM_000392.5(ABCC2):c.2747+10C>T
|
rs772329652
|
0.00003
|
|
NM_000395.3(CSF2RB):c.1107C>G (p.Asp369Glu)
|
rs139685237
|
0.00003
|
|
NM_000410.4(HFE):c.-7T>C
|
rs369807746
|
0.00003
|
|
NM_000414.4(HSD17B4):c.1327A>T (p.Met443Leu)
|
rs201767875
|
0.00003
|
|
NM_000414.4(HSD17B4):c.1628G>A (p.Arg543His)
|
rs201009485
|
0.00003
|
|
NM_000426.4(LAMA2):c.2477G>A (p.Arg826Gln)
|
rs759973830
|
0.00003
|
|
NM_000426.4(LAMA2):c.4471G>A (p.Asp1491Asn)
|
rs375640462
|
0.00003
|
|
NM_000426.4(LAMA2):c.5477G>A (p.Arg1826Gln)
|
rs373614496
|
0.00003
|
|
NM_000426.4(LAMA2):c.5553C>T (p.Ser1851=)
|
rs781341719
|
0.00003
|
|
NM_000426.4(LAMA2):c.5688C>T (p.His1896=)
|
rs573779258
|
0.00003
|
|
NM_000426.4(LAMA2):c.6429+10T>G
|
rs770063449
|
0.00003
|
|
NM_000426.4(LAMA2):c.7479C>T (p.Ser2493=)
|
rs368989339
|
0.00003
|
|
NM_000433.4(NCF2):c.837G>A (p.Thr279=)
|
rs942486247
|
0.00003
|
|
NM_000435.3(NOTCH3):c.3352A>T (p.Asn1118Tyr)
|
rs376950447
|
0.00003
|
|
NM_000435.3(NOTCH3):c.4914A>G (p.Glu1638=)
|
rs149222385
|
0.00003
|
|
NM_000439.5(PCSK1):c.1503C>T (p.Ile501=)
|
rs199524465
|
0.00003
|
|
NM_000441.2(SLC26A4):c.1068C>T (p.Ile356=)
|
rs886061885
|
0.00003
|
|
NM_000441.2(SLC26A4):c.1545-7del
|
rs727503427
|
0.00003
|
|
NM_000441.2(SLC26A4):c.601-5C>T
|
rs546450643
|
0.00003
|
|
NM_000443.4(ABCB4):c.2295T>C (p.Ser765=)
|
rs371013005
|
0.00003
|
|
NM_000443.4(ABCB4):c.525G>A (p.Thr175=)
|
rs558416191
|
0.00003
|
|
NM_000444.6(PHEX):c.598A>G (p.Asn200Asp)
|
rs1293482406
|
0.00003
|
|
NM_000447.3(PSEN2):c.415G>A (p.Val139Met)
|
rs202178897
|
0.00003
|
|
NM_000455.5(STK11):c.1100C>T (p.Thr367Met)
|
rs587782835
|
0.00003
|
|
NM_000455.5(STK11):c.1118C>T (p.Pro373Leu)
|
rs876661153
|
0.00003
|
|
NM_000455.5(STK11):c.1130C>T (p.Ala377Val)
|
rs199973552
|
0.00003
|
|
NM_000455.5(STK11):c.1168G>C (p.Val390Leu)
|
rs374078532
|
0.00003
|
|
NM_000455.5(STK11):c.1193C>T (p.Ala398Val)
|
rs768058962
|
0.00003
|
|
NM_000455.5(STK11):c.1226G>A (p.Arg409Gln)
|
rs587782364
|
0.00003
|
|
NM_000455.5(STK11):c.1258G>T (p.Ala420Ser)
|
rs762482152
|
0.00003
|
|
NM_000455.5(STK11):c.374+9T>A
|
rs762297795
|
0.00003
|
|
NM_000455.5(STK11):c.566C>T (p.Thr189Ile)
|
rs587781515
|
0.00003
|
|
NM_000458.4(HNF1B):c.100C>T (p.Leu34=)
|
rs373201245
|
0.00003
|
|
NM_000460.4(THPO):c.183G>T (p.Leu61=)
|
rs200666378
|
0.00003
|
|
NM_000465.4(BARD1):c.1028C>T (p.Thr343Ile)
|
rs201032007
|
0.00003
|
|
NM_000465.4(BARD1):c.1052C>T (p.Thr351Met)
|
rs767208122
|
0.00003
|
|
NM_000465.4(BARD1):c.1724G>A (p.Ser575Asn)
|
rs774352844
|
0.00003
|
|
NM_000465.4(BARD1):c.1904-5G>A
|
rs376639978
|
0.00003
|
|
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn)
|
rs369561166
|
0.00003
|
|
NM_000466.3(PEX1):c.3165A>G (p.Gln1055=)
|
rs776231556
|
0.00003
|
|
NM_000466.3(PEX1):c.721T>C (p.Ser241Pro)
|
rs753823218
|
0.00003
|
|
NM_000478.6(ALPL):c.1479C>T (p.Asn493=)
|
rs759758484
|
0.00003
|
|
NM_000481.4(AMT):c.583G>A (p.Val195Met)
|
rs372496075
|
0.00003
|
|
NM_000484.4(APP):c.1458+10G>A
|
rs201290605
|
0.00003
|
|
NM_000487.6(ARSA):c.1107+9G>A
|
rs768146306
|
0.00003
|
|
NM_000487.6(ARSA):c.225-4G>A
|
rs372937480
|
0.00003
|
|
NM_000487.6(ARSA):c.369C>T (p.Ala123=)
|
rs886057657
|
0.00003
|
|
NM_000488.4(SERPINC1):c.594T>C (p.Tyr198=)
|
rs183416252
|
0.00003
|
|
NM_000489.6(ATRX):c.2001G>A (p.Pro667=)
|
rs139997330
|
0.00003
|
|
NM_000489.6(ATRX):c.4210A>G (p.Thr1404Ala)
|
rs781835568
|
0.00003
|
|
NM_000492.3(CFTR):c.-256G>A
|
rs1035377381
|
0.00003
|
|
NM_000492.4(CFTR):c.1047G>A (p.Ala349=)
|
rs200520623
|
0.00003
|
|
NM_000492.4(CFTR):c.1585-19T>C
|
rs778457306
|
0.00003
|
|
NM_000492.4(CFTR):c.2736G>A (p.Ser912=)
|
rs200901072
|
0.00003
|
|
NM_000492.4(CFTR):c.53+4A>T
|
rs372610364
|
0.00003
|
|
NM_000497.4(CYP11B1):c.395+6C>T
|
rs553707049
|
0.00003
|
|
NM_000498.3(CYP11B2):c.1122-4C>T
|
rs1361290853
|
0.00003
|
|
NM_000498.3(CYP11B2):c.955-10G>T
|
rs761292212
|
0.00003
|
|
NM_000518.5(HBB):c.316-12T>C
|
rs781604042
|
0.00003
|
|
NM_000518.5(HBB):c.316-177A>G
|
rs964085975
|
0.00003
|
|
NM_000518.5(HBB):c.316-28G>A
|
rs771736852
|
0.00003
|
|
NM_000527.5(LDLR):c.1060+9C>T
|
rs540073140
|
0.00003
|
|
NM_000527.5(LDLR):c.1221C>T (p.His407=)
|
rs778424518
|
0.00003
|
|
NM_000527.5(LDLR):c.1383C>T (p.Gly461=)
|
rs764929176
|
0.00003
|
|
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)
|
rs730882109
|
0.00003
|
|
NM_000527.5(LDLR):c.186G>A (p.Thr62=)
|
rs55958434
|
0.00003
|
|
NM_000527.5(LDLR):c.1954A>G (p.Met652Val)
|
rs730882111
|
0.00003
|
|
NM_000527.5(LDLR):c.2324T>C (p.Val775Ala)
|
rs780300776
|
0.00003
|
|
NM_000527.5(LDLR):c.2388C>T (p.Ile796=)
|
rs543852919
|
0.00003
|
|
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys)
|
rs551747280
|
0.00003
|
|
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr)
|
rs761954844
|
0.00003
|
|
NM_000528.4(MAN2B1):c.1779A>G (p.Pro593=)
|
rs146778702
|
0.00003
|
|
NM_000528.4(MAN2B1):c.2298C>T (p.Asn766=)
|
rs746514019
|
0.00003
|
|
NM_000535.7(PMS2):c.1438G>A (p.Gly480Arg)
|
rs146848345
|
0.00003
|
|
NM_000535.7(PMS2):c.1720C>T (p.Pro574Ser)
|
rs758018736
|
0.00003
|
|
NM_000535.7(PMS2):c.1901A>G (p.His634Arg)
|
rs767904893
|
0.00003
|
|
NM_000535.7(PMS2):c.2288A>G (p.Glu763Gly)
|
rs587780052
|
0.00003
|
|
NM_000535.7(PMS2):c.751G>A (p.Val251Met)
|
rs142434011
|
0.00003
|
|
NM_000535.7(PMS2):c.883C>T (p.Arg295Trp)
|
rs182246929
|
0.00003
|
|
NM_000540.3(RYR1):c.10053G>A (p.Pro3351=)
|
rs774096421
|
0.00003
|
|
NM_000540.3(RYR1):c.10619A>T (p.Tyr3540Phe)
|
rs752477271
|
0.00003
|
|
NM_000540.3(RYR1):c.11193+15C>G
|
rs370928637
|
0.00003
|
|
NM_000540.3(RYR1):c.1140G>A (p.Glu380=)
|
rs35189056
|
0.00003
|
|
NM_000540.3(RYR1):c.12840G>T (p.Ala4280=)
|
rs1292456827
|
0.00003
|
|
NM_000540.3(RYR1):c.13369A>T (p.Met4457Leu)
|
rs867851900
|
0.00003
|
|
NM_000540.3(RYR1):c.13505A>G (p.Glu4502Gly)
|
rs139647387
|
0.00003
|
|
NM_000540.3(RYR1):c.14601C>T (p.Ser4867=)
|
rs370469515
|
0.00003
|
|
NM_000540.3(RYR1):c.2937G>A (p.Ala979=)
|
rs775442275
|
0.00003
|
|
NM_000540.3(RYR1):c.3179-16C>T
|
rs982271145
|
0.00003
|
|
NM_000540.3(RYR1):c.4339G>A (p.Val1447Met)
|
rs370851779
|
0.00003
|
|
NM_000540.3(RYR1):c.537+13G>A
|
rs754569485
|
0.00003
|
|
NM_000540.3(RYR1):c.6078G>A (p.Glu2026=)
|
rs201310026
|
0.00003
|
|
NM_000540.3(RYR1):c.614G>C (p.Cys205Ser)
|
rs201834803
|
0.00003
|
|
NM_000540.3(RYR1):c.6318C>A (p.Ala2106=)
|
rs769443054
|
0.00003
|
|
NM_000540.3(RYR1):c.6813G>A (p.Thr2271=)
|
rs147786842
|
0.00003
|
|
NM_000540.3(RYR1):c.7244G>A (p.Arg2415Gln)
|
rs201584482
|
0.00003
|
|
NM_000540.3(RYR1):c.7755C>T (p.Thr2585=)
|
rs768702294
|
0.00003
|
|
NM_000540.3(RYR1):c.800+7C>T
|
rs762118960
|
0.00003
|
|
NM_000540.3(RYR1):c.8112C>T (p.Cys2704=)
|
rs763722972
|
0.00003
|
|
NM_000540.3(RYR1):c.9624G>T (p.Pro3208=)
|
rs552470353
|
0.00003
|
|
NM_000540.3(RYR1):c.9723C>T (p.Pro3241=)
|
rs199828145
|
0.00003
|
|
NM_000540.3(RYR1):c.9895G>A (p.Gly3299Ser)
|
rs372203483
|
0.00003
|
|
NM_000546.6(TP53):c.105G>C (p.Leu35Phe)
|
rs121912661
|
0.00003
|
|
NM_000546.6(TP53):c.1120G>C (p.Gly374Arg)
|
rs587781858
|
0.00003
|
|
NM_000546.6(TP53):c.188C>G (p.Ala63Gly)
|
rs372201428
|
0.00003
|
|
NM_000546.6(TP53):c.329G>A (p.Arg110His)
|
rs11540654
|
0.00003
|
|
NM_000546.6(TP53):c.467G>A (p.Arg156His)
|
rs371524413
|
0.00003
|
|
NM_000546.6(TP53):c.509C>T (p.Thr170Met)
|
rs779000871
|
0.00003
|
|
NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys)
|
rs45517148
|
0.00003
|
|
NM_000548.5(TSC2):c.1258-5G>T
|
rs925954967
|
0.00003
|
|
NM_000548.5(TSC2):c.1627C>T (p.Pro543Ser)
|
rs1060500944
|
0.00003
|
|
NM_000548.5(TSC2):c.1753C>T (p.Arg585Cys)
|
rs370324876
|
0.00003
|
|
NM_000548.5(TSC2):c.1915C>T (p.Arg639Trp)
|
rs766451267
|
0.00003
|
|
NM_000548.5(TSC2):c.1987C>T (p.Leu663Phe)
|
rs747516623
|
0.00003
|
|
NM_000548.5(TSC2):c.2585C>T (p.Ala862Val)
|
rs45517249
|
0.00003
|
|
NM_000548.5(TSC2):c.299C>T (p.Ala100Val)
|
rs375824753
|
0.00003
|
|
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys)
|
rs796053492
|
0.00003
|
|
NM_000548.5(TSC2):c.325G>A (p.Val109Met)
|
rs369932305
|
0.00003
|
|
NM_000548.5(TSC2):c.336+14C>T
|
rs570065416
|
0.00003
|
|
NM_000548.5(TSC2):c.429C>G (p.Phe143Leu)
|
rs137854406
|
0.00003
|
|
NM_000548.5(TSC2):c.4346C>T (p.Ser1449Phe)
|
rs759004251
|
0.00003
|
|
NM_000548.5(TSC2):c.4397C>T (p.Ser1466Leu)
|
rs45517341
|
0.00003
|
|
NM_000548.5(TSC2):c.4812C>A (p.Gly1604=)
|
rs397515103
|
0.00003
|
|
NM_000548.5(TSC2):c.4849+4C>T
|
rs370426490
|
0.00003
|
|
NM_000548.5(TSC2):c.4901G>A (p.Arg1634His)
|
rs201694466
|
0.00003
|
|
NM_000548.5(TSC2):c.493C>T (p.Leu165=)
|
rs758521946
|
0.00003
|
|
NM_000548.5(TSC2):c.5017G>A (p.Val1673Ile)
|
rs45490993
|
0.00003
|
|
NM_000548.5(TSC2):c.5260-1G>C
|
rs1057518103
|
0.00003
|
|
NM_000548.5(TSC2):c.5266G>A (p.Glu1756Lys)
|
rs375075952
|
0.00003
|
|
NM_000548.5(TSC2):c.538C>G (p.Leu180Val)
|
rs45485591
|
0.00003
|
|
NM_000548.5(TSC2):c.5418T>G (p.Phe1806Leu)
|
rs200004126
|
0.00003
|
|
NM_000548.5(TSC2):c.583A>G (p.Ile195Val)
|
rs148325559
|
0.00003
|
|
NM_000548.5(TSC2):c.673G>A (p.Val225Met)
|
rs142919353
|
0.00003
|
|
NM_000548.5(TSC2):c.922C>T (p.Arg308Trp)
|
rs201144475
|
0.00003
|
|
NM_000551.4(VHL):c.463+4C>T
|
rs879253989
|
0.00003
|
|
NM_000551.4(VHL):c.554A>G (p.Tyr185Cys)
|
rs561874453
|
0.00003
|
|
NM_000551.4(VHL):c.614G>A (p.Arg205His)
|
rs777130107
|
0.00003
|
|
NM_000552.5(VWF):c.2025G>A (p.Pro675=)
|
rs779045480
|
0.00003
|
|
NM_000553.6(WRN):c.1296C>T (p.Asn432=)
|
rs772082980
|
0.00003
|
|
NM_000553.6(WRN):c.654+4C>T
|
rs769275170
|
0.00003
|
|
NM_000574.5(CD55):c.1089G>A (p.Thr363=)
|
rs767750936
|
0.00003
|
|
NM_000642.3(AGL):c.2950-5T>G
|
rs760229683
|
0.00003
|
|
NM_000642.3(AGL):c.3345A>T (p.Gly1115=)
|
rs758265909
|
0.00003
|
|
NM_000687.4(AHCY):c.29-4G>A
|
rs774846394
|
0.00003
|
|
NM_000687.4(AHCY):c.445+11C>T
|
rs375253690
|
0.00003
|
|
NM_000709.4(BCKDHA):c.108+12G>A
|
rs780834493
|
0.00003
|
|
NM_000709.4(BCKDHA):c.330A>T (p.Thr110=)
|
rs201366184
|
0.00003
|
|
NM_000709.4(BCKDHA):c.633G>A (p.Thr211=)
|
rs750729027
|
0.00003
|
|
NM_000709.4(BCKDHA):c.726T>C (p.Ser242=)
|
rs750023394
|
0.00003
|
|
NM_000709.4(BCKDHA):c.819G>T (p.Thr273=)
|
rs201991385
|
0.00003
|
|
NM_000709.4(BCKDHA):c.891C>T (p.Arg297=)
|
rs187669174
|
0.00003
|
|
NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp)
|
rs760888275
|
0.00003
|
|
NM_000719.7(CACNA1C):c.2961-5C>T
|
rs781703710
|
0.00003
|
|
NM_000719.7(CACNA1C):c.3295G>A (p.Asp1099Asn)
|
rs771549676
|
0.00003
|
|
NM_000719.7(CACNA1C):c.3531C>T (p.Tyr1177=)
|
rs754527651
|
0.00003
|
|
NM_000719.7(CACNA1C):c.3946-45C>G
|
rs201551454
|
0.00003
|
|
NM_000719.7(CACNA1C):c.50-3C>T
|
rs780161540
|
0.00003
|
|
NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser)
|
rs761966966
|
0.00003
|
|
NM_000719.7(CACNA1C):c.5307C>T (p.Asn1769=)
|
rs530924728
|
0.00003
|
|
NM_000719.7(CACNA1C):c.5492C>T (p.Thr1831Met)
|
rs186015395
|
0.00003
|
|
NM_000719.7(CACNA1C):c.6059G>A (p.Ser2020Asn)
|
rs373503739
|
0.00003
|
|
NM_000742.4(CHRNA2):c.121C>T (p.Leu41Phe)
|
rs796052307
|
0.00003
|
|
NM_000751.3(CHRND):c.646C>T (p.Arg216Trp)
|
rs777271963
|
0.00003
|
|
NM_000784.4(CYP27A1):c.624C>T (p.Leu208=)
|
rs200060245
|
0.00003
|
|
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys)
|
rs190012697
|
0.00003
|
|
NM_000789.4(ACE):c.3226G>T (p.Val1076Leu)
|
rs534480370
|
0.00003
|
|
NM_000814.6(GABRB3):c.1265C>T (p.Pro422Leu)
|
rs369631109
|
0.00003
|
|
NM_000834.5(GRIN2B):c.1125G>A (p.Arg375=)
|
rs200126922
|
0.00003
|
|
NM_000875.5(IGF1R):c.1680G>A (p.Lys560=)
|
rs754035007
|
0.00003
|
|
NM_000875.5(IGF1R):c.2745G>A (p.Ser915=)
|
rs757589571
|
0.00003
|
|
NM_000891.3(KCNJ2):c.1259C>T (p.Pro420Leu)
|
rs749707062
|
0.00003
|
|
NM_000934.4(SERPINF2):c.815C>T (p.Thr272Met)
|
rs374422816
|
0.00003
|
|
NM_001002755.4(NFU1):c.702G>A (p.Glu234=)
|
rs561482249
|
0.00003
|
|
NM_001003722.2(GLE1):c.1964+7G>A
|
rs200856711
|
0.00003
|
|
NM_001003800.2(BICD2):c.638A>G (p.Lys213Arg)
|
rs755962512
|
0.00003
|
|
NM_001003841.3(SLC6A19):c.1017-13A>G
|
rs202017164
|
0.00003
|
|
NM_001005242.3(PKP2):c.611G>A (p.Arg204His)
|
rs755215178
|
0.00003
|
|
NM_001005361.3(DNM2):c.1423-9C>G
|
rs371006369
|
0.00003
|
|
NM_001005361.3(DNM2):c.162-9C>A
|
rs200736669
|
0.00003
|
|
NM_001008216.2(GALE):c.988+7G>A
|
rs200182186
|
0.00003
|
|
NM_001009944.3(PKD1):c.3605C>T (p.Ala1202Val)
|
rs767834829
|
0.00003
|
|
NM_001009944.3(PKD1):c.5173G>A (p.Ala1725Thr)
|
rs779607937
|
0.00003
|
|
NM_001018005.2(TPM1):c.563+347C>T
|
rs759081217
|
0.00003
|
|
NM_001018005.2(TPM1):c.845C>G (p.Thr282Ser)
|
rs397516395
|
0.00003
|
|
NM_001025295.3(IFITM5):c.-10G>A
|
rs770089325
|
0.00003
|
|
NM_001025295.3(IFITM5):c.8C>T (p.Thr3Met)
|
rs376963969
|
0.00003
|
|
NM_001032382.2(PQBP1):c.492G>T (p.Gly164=)
|
rs375706327
|
0.00003
|
|
NM_001032386.2(SUOX):c.1137A>G (p.Lys379=)
|
rs759992645
|
0.00003
|
|
NM_001034850.3(RETREG1):c.750G>T (p.Leu250=)
|
rs767329180
|
0.00003
|
|
NM_001034853.2(RPGR):c.1099C>G (p.Pro367Ala)
|
rs769641256
|
0.00003
|
|
NM_001035.3(RYR2):c.11877G>A (p.Ser3959=)
|
rs754610647
|
0.00003
|
|
NM_001035.3(RYR2):c.12027C>T (p.Asn4009=)
|
rs763374929
|
0.00003
|
|
NM_001035.3(RYR2):c.1241G>A (p.Arg414His)
|
rs371121679
|
0.00003
|
|
NM_001035.3(RYR2):c.12540C>T (p.Gly4180=)
|
rs772125105
|
0.00003
|
|
NM_001035.3(RYR2):c.13175A>G (p.Lys4392Arg)
|
rs753733164
|
0.00003
|
|
NM_001035.3(RYR2):c.13593G>A (p.Lys4531=)
|
rs548313130
|
0.00003
|
|
NM_001035.3(RYR2):c.13666G>A (p.Ala4556Thr)
|
rs189345192
|
0.00003
|
|
NM_001035.3(RYR2):c.1789A>G (p.Ile597Val)
|
rs770408945
|
0.00003
|
|
NM_001035.3(RYR2):c.3660T>A (p.Asp1220Glu)
|
rs1019112544
|
0.00003
|
|
NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val)
|
rs374191985
|
0.00003
|
|
NM_001035.3(RYR2):c.8209-4T>C
|
rs371966353
|
0.00003
|
|
NM_001035.3(RYR2):c.837G>A (p.Thr279=)
|
rs769682840
|
0.00003
|
|
NM_001035.3(RYR2):c.8515-7A>G
|
rs766622060
|
0.00003
|
|
NM_001035.3(RYR2):c.8913T>C (p.Ile2971=)
|
rs755520825
|
0.00003
|
|
NM_001035.3(RYR2):c.9755A>G (p.His3252Arg)
|
rs760379293
|
0.00003
|
|
NM_001037.5(SCN1B):c.23T>C (p.Val8Ala)
|
rs786205833
|
0.00003
|
|
NM_001037333.3(CYFIP2):c.2414G>A (p.Arg805Gln)
|
rs750024153
|
0.00003
|
|
NM_001039141.3(TRIOBP):c.5782A>G (p.Ile1928Val)
|
rs781135139
|
0.00003
|
|
NM_001040108.2(MLH3):c.3405C>T (p.Ser1135=)
|
rs746155226
|
0.00003
|
|
NM_001040142.2(SCN2A):c.2563-4C>A
|
rs561375550
|
0.00003
|
|
NM_001040142.2(SCN2A):c.4260G>T (p.Thr1420=)
|
rs138241682
|
0.00003
|
|
NM_001040151.2(SCN3B):c.60T>G (p.Ser20Arg)
|
rs771342044
|
0.00003
|
|
NM_001040716.2(PC):c.1530C>T (p.Asn510=)
|
rs755162836
|
0.00003
|
|
NM_001040716.2(PC):c.3435G>T (p.Met1145Ile)
|
rs201796252
|
0.00003
|
|
NM_001040716.2(PC):c.3483T>C (p.His1161=)
|
rs190223302
|
0.00003
|
|
NM_001042432.2(CLN3):c.1198-5C>T
|
rs764999720
|
0.00003
|
|
NM_001042472.3(ABHD12):c.1157+3G>A
|
rs774414174
|
0.00003
|
|
NM_001042472.3(ABHD12):c.1189C>T (p.Gln397Ter)
|
rs745990956
|
0.00003
|
|
NM_001042472.3(ABHD12):c.317-10T>A
|
rs768757901
|
0.00003
|
|
NM_001042492.3(NF1):c.100G>A (p.Val34Ile)
|
rs772995929
|
0.00003
|
|
NM_001042492.3(NF1):c.1308G>A (p.Ser436=)
|
rs765425127
|
0.00003
|
|
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser)
|
rs779727341
|
0.00003
|
|
NM_001042492.3(NF1):c.178A>G (p.Thr60Ala)
|
rs546729596
|
0.00003
|
|
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser)
|
rs200302954
|
0.00003
|
|
NM_001042492.3(NF1):c.2821A>G (p.Ile941Val)
|
rs876659888
|
0.00003
|
|
NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser)
|
rs146641724
|
0.00003
|
|
NM_001042492.3(NF1):c.4185G>T (p.Gln1395His)
|
rs775206746
|
0.00003
|
|
NM_001042492.3(NF1):c.4835+5G>C
|
rs786201306
|
0.00003
|
|
NM_001042492.3(NF1):c.4942A>G (p.Thr1648Ala)
|
rs770558820
|
0.00003
|
|
NM_001042492.3(NF1):c.6642+4T>C
|
rs587781687
|
0.00003
|
|
NM_001042492.3(NF1):c.7003A>G (p.Thr2335Ala)
|
rs370209920
|
0.00003
|
|
NM_001042492.3(NF1):c.7910G>A (p.Arg2637Gln)
|
rs560262404
|
0.00003
|
|
NM_001042492.3(NF1):c.8216T>C (p.Ile2739Thr)
|
rs752541243
|
0.00003
|
|
NM_001042492.3(NF1):c.8479G>T (p.Ala2827Ser)
|
rs199878086
|
0.00003
|
|
NM_001042492.3(NF1):c.864G>C (p.Val288=)
|
rs201181517
|
0.00003
|
|
NM_001042702.5(PJVK):c.212-12C>A
|
rs199967536
|
0.00003
|
|
NM_001048174.2(MUTYH):c.1472G>A (p.Arg491Gln)
|
rs369410616
|
0.00003
|
|
NM_001048174.2(MUTYH):c.184G>A (p.Val62Ile)
|
rs375526246
|
0.00003
|
|
NM_001065.4(TNFRSF1A):c.1038C>G (p.His346Gln)
|
rs201994938
|
0.00003
|
|
NM_001065.4(TNFRSF1A):c.492C>T (p.Thr164=)
|
rs373422284
|
0.00003
|
|
NM_001079802.2(FKTN):c.393G>A (p.Glu131=)
|
rs1472560195
|
0.00003
|
|
NM_001079802.2(FKTN):c.402A>T (p.Gly134=)
|
rs780921233
|
0.00003
|
|
NM_001079802.2(FKTN):c.703C>A (p.Pro235Thr)
|
rs373418195
|
0.00003
|
|
NM_001079802.2(FKTN):c.911-8C>A
|
rs749557617
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.1374C>T (p.Ile458=)
|
rs775722631
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.651C>T (p.Ala217=)
|
rs4646837
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.663C>T (p.Ala221=)
|
rs760461822
|
0.00003
|
|
NM_001080414.4(CCDC88C):c.4113-19C>T
|
rs560507685
|
0.00003
|
|
NM_001080517.3(SETD5):c.2908G>A (p.Val970Met)
|
rs766037213
|
0.00003
|
|
NM_001080517.3(SETD5):c.3919T>C (p.Ser1307Pro)
|
rs768635008
|
0.00003
|
|
NM_001082971.2(DDC):c.6C>T (p.Asn2=)
|
rs749246611
|
0.00003
|
|
NM_001083962.2(TCF4):c.1113G>A (p.Ser371=)
|
rs148308964
|
0.00003
|
|
NM_001083962.2(TCF4):c.466C>A (p.Pro156Thr)
|
rs200889338
|
0.00003
|
|
NM_001083962.2(TCF4):c.903C>T (p.Asn301=)
|
rs781392344
|
0.00003
|
|
NM_001098426.2(SMARCD2):c.922-3C>T
|
rs756359576
|
0.00003
|
|
NM_001100.4(ACTA1):c.435C>T (p.Tyr145=)
|
rs371410845
|
0.00003
|
|
NM_001100913.3(PACS2):c.1401G>A (p.Gln467=)
|
rs782775675
|
0.00003
|
|
NM_001101362.3(KBTBD13):c.228C>G (p.Asp76Glu)
|
rs777431652
|
0.00003
|
|
NM_001101426.4(CRPPA):c.1120-10T>C
|
rs200836986
|
0.00003
|
|
NM_001103.4(ACTN2):c.-3G>T
|
rs201920417
|
0.00003
|
|
NM_001103.4(ACTN2):c.2551C>T (p.Arg851Cys)
|
rs141563497
|
0.00003
|
|
NM_001105206.3(LAMA4):c.1444A>G (p.Asn482Asp)
|
rs782319667
|
0.00003
|
|
NM_001105206.3(LAMA4):c.572G>A (p.Gly191Glu)
|
rs782010849
|
0.00003
|
|
NM_001105206.3(LAMA4):c.997G>A (p.Ala333Thr)
|
rs576711704
|
0.00003
|
|
NM_001110556.2(FLNA):c.1242C>T (p.Gly414=)
|
rs782598234
|
0.00003
|
|
NM_001110556.2(FLNA):c.1291G>C (p.Glu431Gln)
|
rs781915319
|
0.00003
|
|
NM_001110556.2(FLNA):c.20G>C (p.Arg7Pro)
|
rs781814342
|
0.00003
|
|
NM_001110556.2(FLNA):c.2925G>C (p.Lys975Asn)
|
rs375495397
|
0.00003
|
|
NM_001110556.2(FLNA):c.4106C>T (p.Thr1369Ile)
|
rs376774130
|
0.00003
|
|
NM_001110556.2(FLNA):c.4517C>T (p.Thr1506Ile)
|
rs797045579
|
0.00003
|
|
NM_001110556.2(FLNA):c.6108G>A (p.Pro2036=)
|
rs782221205
|
0.00003
|
|
NM_001110556.2(FLNA):c.7649C>T (p.Pro2550Leu)
|
rs371724771
|
0.00003
|
|
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser)
|
rs140258520
|
0.00003
|
|
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met)
|
rs193922678
|
0.00003
|
|
NM_001110792.2(MECP2):c.260C>T (p.Pro87Leu)
|
rs267608440
|
0.00003
|
|
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met)
|
rs61751445
|
0.00003
|
|
NM_001111125.3(IQSEC2):c.3663A>G (p.Pro1221=)
|
rs797045629
|
0.00003
|
|
NM_001113378.2(FANCI):c.1699-11C>T
|
rs753750358
|
0.00003
|
|
NM_001114753.3(ENG):c.405C>G (p.Thr135=)
|
rs773521685
|
0.00003
|
|
NM_001114753.3(ENG):c.589C>T (p.Arg197Trp)
|
rs780987528
|
0.00003
|
|
NM_001114753.3(ENG):c.900G>A (p.Leu300=)
|
rs140155568
|
0.00003
|
|
NM_001122659.3(EDNRB):c.777C>T (p.Pro259=)
|
rs375637651
|
0.00003
|
|
NM_001122681.2(SH3BP2):c.497C>T (p.Pro166Leu)
|
rs567769591
|
0.00003
|
|
NM_001122681.2(SH3BP2):c.517+5G>A
|
rs367984149
|
0.00003
|
|
NM_001126108.2(SLC12A3):c.2253G>A (p.Pro751=)
|
rs776382586
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.1534G>A (p.Glu512Lys)
|
rs375210532
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met)
|
rs563345694
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6448C>T (p.Arg2150Trp)
|
rs756780624
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.699A>G (p.Leu233=)
|
rs749587119
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.7052G>A (p.Gly2351Glu)
|
rs1442777428
|
0.00003
|
|
NM_001127453.2(GSDME):c.611A>T (p.Asp204Val)
|
rs376564087
|
0.00003
|
|
NM_001127511.3(APC):c.71C>T (p.Ser24Phe)
|
rs770241997
|
0.00003
|
|
NM_001127644.2(GABRA1):c.86C>T (p.Pro29Leu)
|
rs200218956
|
0.00003
|
|
NM_001127671.2(LIFR):c.2670+6C>G
|
rs898718526
|
0.00003
|
|
NM_001128178.3(NPHP1):c.330-4G>A
|
rs774162169
|
0.00003
|
|
NM_001128225.3(SLC39A13):c.786+6C>T
|
rs779162662
|
0.00003
|
|
NM_001128840.3(CACNA1D):c.4111-8C>G
|
rs751553150
|
0.00003
|
|
NM_001130823.3(DNMT1):c.3117-4G>A
|
rs781402268
|
0.00003
|
|
NM_001130987.2(DYSF):c.1449+7C>T
|
rs199608017
|
0.00003
|
|
NM_001130987.2(DYSF):c.2205C>T (p.Ile735=)
|
rs754177085
|
0.00003
|
|
NM_001130987.2(DYSF):c.3442G>A (p.Val1148Ile)
|
rs148925399
|
0.00003
|
|
NM_001130987.2(DYSF):c.558A>G (p.Thr186=)
|
rs781732915
|
0.00003
|
|
NM_001130987.2(DYSF):c.5643-12A>G
|
rs375507062
|
0.00003
|
|
NM_001130987.2(DYSF):c.760-8G>C
|
rs748159785
|
0.00003
|
|
NM_001134363.3(RBM20):c.1066A>C (p.Thr356Pro)
|
rs1021465138
|
0.00003
|
|
NM_001134363.3(RBM20):c.1429+10G>T
|
rs778742738
|
0.00003
|
|
NM_001134363.3(RBM20):c.1603G>A (p.Val535Ile)
|
rs183007628
|
0.00003
|
|
NM_001134363.3(RBM20):c.2905G>A (p.Val969Ile)
|
rs369747752
|
0.00003
|
|
NM_001134363.3(RBM20):c.3169C>T (p.Arg1057Trp)
|
rs199830512
|
0.00003
|
|
NM_001134363.3(RBM20):c.3226G>T (p.Ala1076Ser)
|
rs780673583
|
0.00003
|
|
NM_001134363.3(RBM20):c.541G>A (p.Gly181Arg)
|
rs543478618
|
0.00003
|
|
NM_001134363.3(RBM20):c.563A>G (p.Asn188Ser)
|
rs1041725339
|
0.00003
|
|
NM_001134363.3(RBM20):c.811G>A (p.Gly271Arg)
|
rs989951034
|
0.00003
|
|
NM_001134407.3(GRIN2A):c.3578T>G (p.Leu1193Trp)
|
rs75761674
|
0.00003
|
|
NM_001134407.3(GRIN2A):c.3854G>A (p.Arg1285Lys)
|
rs367543132
|
0.00003
|
|
NM_001136193.2(FASTKD2):c.2074A>G (p.Lys692Glu)
|
rs771134176
|
0.00003
|
|
NM_001142800.2(EYS):c.1314A>G (p.Pro438=)
|
rs375043207
|
0.00003
|
|
NM_001142800.2(EYS):c.3164+8T>C
|
rs1385606496
|
0.00003
|
|
NM_001142800.2(EYS):c.5645-8C>T
|
rs886044616
|
0.00003
|
|
NM_001142800.2(EYS):c.6726-7C>T
|
rs886782734
|
0.00003
|
|
NM_001142800.2(EYS):c.8163A>G (p.Gln2721=)
|
rs370845590
|
0.00003
|
|
NM_001142800.2(EYS):c.91G>A (p.Glu31Lys)
|
rs572189652
|
0.00003
|
|
NM_001142864.4(PIEZO1):c.1442G>A (p.Arg481His)
|
rs947487272
|
0.00003
|
|
NM_001144967.3(NEDD4L):c.1377+7C>T
|
rs372739641
|
0.00003
|
|
NM_001145358.2(SIN3A):c.2852-6C>T
|
rs760515812
|
0.00003
|
|
NM_001145809.2(MYH14):c.3884G>A (p.Arg1295Gln)
|
rs377014092
|
0.00003
|
|
NM_001145809.2(MYH14):c.4903G>A (p.Glu1635Lys)
|
rs140157424
|
0.00003
|
|
NM_001148.6(ANK2):c.11594A>G (p.Asp3865Gly)
|
rs140606121
|
0.00003
|
|
NM_001148.6(ANK2):c.4122+4C>A
|
rs756374268
|
0.00003
|
|
NM_001148.6(ANK2):c.4912A>G (p.Asn1638Asp)
|
rs748573794
|
0.00003
|
|
NM_001148.6(ANK2):c.6205C>T (p.Arg2069Cys)
|
rs754572911
|
0.00003
|
|
NM_001148.6(ANK2):c.7136C>A (p.Thr2379Lys)
|
rs753351853
|
0.00003
|
|
NM_001148.6(ANK2):c.8417T>C (p.Val2806Ala)
|
rs769091762
|
0.00003
|
|
NM_001159699.2(FHL1):c.792C>T (p.Tyr264=)
|
rs755385158
|
0.00003
|
|
NM_001159699.2(FHL1):c.816C>T (p.Ser272=)
|
rs758552293
|
0.00003
|
|
NM_001160372.4(TRAPPC9):c.1768+7C>T
|
rs587780485
|
0.00003
|
|
NM_001160372.4(TRAPPC9):c.3288G>A (p.Pro1096=)
|
rs570688248
|
0.00003
|
|
NM_001161352.2(KCNMA1):c.1680C>A (p.Ala560=)
|
rs2229008
|
0.00003
|
|
NM_001161352.2(KCNMA1):c.2675C>T (p.Thr892Met)
|
rs200440843
|
0.00003
|
|
NM_001161352.2(KCNMA1):c.3147G>A (p.Ala1049=)
|
rs201397661
|
0.00003
|
|
NM_001161352.2(KCNMA1):c.3650A>G (p.Asn1217Ser)
|
rs563967757
|
0.00003
|
|
NM_001164508.2(NEB):c.104C>T (p.Thr35Met)
|
rs749153659
|
0.00003
|
|
NM_001164508.2(NEB):c.10925T>C (p.Ile3642Thr)
|
rs201614105
|
0.00003
|
|
NM_001164508.2(NEB):c.11361G>A (p.Pro3787=)
|
rs200043736
|
0.00003
|
|
NM_001164508.2(NEB):c.11671G>A (p.Glu3891Lys)
|
rs753450456
|
0.00003
|
|
NM_001164508.2(NEB):c.11683A>G (p.Arg3895Gly)
|
rs1015014078
|
0.00003
|
|
NM_001164508.2(NEB):c.11806-7C>A
|
rs779713133
|
0.00003
|
|
NM_001164508.2(NEB):c.11915T>G (p.Leu3972Arg)
|
rs769145449
|
0.00003
|
|
NM_001164508.2(NEB):c.125A>G (p.Tyr42Cys)
|
rs756162358
|
0.00003
|
|
NM_001164508.2(NEB):c.1339A>G (p.Met447Val)
|
rs774284999
|
0.00003
|
|
NM_001164508.2(NEB):c.1365+14C>A
|
rs750849844
|
0.00003
|
|
NM_001164508.2(NEB):c.16823C>T (p.Thr5608Met)
|
rs200952733
|
0.00003
|
|
NM_001164508.2(NEB):c.16954A>G (p.Ile5652Val)
|
rs767425744
|
0.00003
|
|
NM_001164508.2(NEB):c.17129A>G (p.Lys5710Arg)
|
rs200501968
|
0.00003
|
|
NM_001164508.2(NEB):c.18074G>A (p.Arg6025His)
|
rs751957350
|
0.00003
|
|
NM_001164508.2(NEB):c.18737A>G (p.His6246Arg)
|
rs760552939
|
0.00003
|
|
NM_001164508.2(NEB):c.18786C>T (p.Tyr6262=)
|
rs374874999
|
0.00003
|
|
NM_001164508.2(NEB):c.19082G>A (p.Ser6361Asn)
|
rs768390701
|
0.00003
|
|
NM_001164508.2(NEB):c.19724G>A (p.Arg6575His)
|
rs185999504
|
0.00003
|
|
NM_001164508.2(NEB):c.19801G>A (p.Val6601Met)
|
rs553079055
|
0.00003
|
|
NM_001164508.2(NEB):c.19836C>T (p.Asp6612=)
|
rs371194689
|
0.00003
|
|
NM_001164508.2(NEB):c.20227C>T (p.Arg6743Cys)
|
rs762552898
|
0.00003
|
|
NM_001164508.2(NEB):c.20367+15G>C
|
rs886054931
|
0.00003
|
|
NM_001164508.2(NEB):c.20434A>G (p.Met6812Val)
|
rs370764959
|
0.00003
|
|
NM_001164508.2(NEB):c.20578-8A>G
|
rs368526624
|
0.00003
|
|
NM_001164508.2(NEB):c.21155A>G (p.Tyr7052Cys)
|
rs755165133
|
0.00003
|
|
NM_001164508.2(NEB):c.21604C>T (p.Arg7202Cys)
|
rs200826420
|
0.00003
|
|
NM_001164508.2(NEB):c.21779A>G (p.Lys7260Arg)
|
rs200250294
|
0.00003
|
|
NM_001164508.2(NEB):c.22110A>G (p.Pro7370=)
|
rs539800267
|
0.00003
|
|
NM_001164508.2(NEB):c.22429G>A (p.Gly7477Ser)
|
rs764674361
|
0.00003
|
|
NM_001164508.2(NEB):c.22433G>A (p.Arg7478His)
|
rs767207985
|
0.00003
|
|
NM_001164508.2(NEB):c.23149G>C (p.Glu7717Gln)
|
rs766321668
|
0.00003
|
|
NM_001164508.2(NEB):c.23416C>G (p.Gln7806Glu)
|
rs750689059
|
0.00003
|
|
NM_001164508.2(NEB):c.23425C>T (p.Arg7809Trp)
|
rs762220487
|
0.00003
|
|
NM_001164508.2(NEB):c.24640A>G (p.Arg8214Gly)
|
rs772803200
|
0.00003
|
|
NM_001164508.2(NEB):c.24649C>T (p.Arg8217Cys)
|
rs542275170
|
0.00003
|
|
NM_001164508.2(NEB):c.25162C>T (p.Arg8388Cys)
|
rs371600800
|
0.00003
|
|
NM_001164508.2(NEB):c.25172G>A (p.Arg8391Gln)
|
rs749034995
|
0.00003
|
|
NM_001164508.2(NEB):c.25184G>A (p.Arg8395Gln)
|
rs779983347
|
0.00003
|
|
NM_001164508.2(NEB):c.3246G>A (p.Ala1082=)
|
rs372664114
|
0.00003
|
|
NM_001164508.2(NEB):c.3640G>A (p.Glu1214Lys)
|
rs764769462
|
0.00003
|
|
NM_001164508.2(NEB):c.4204A>G (p.Asn1402Asp)
|
rs1219268531
|
0.00003
|
|
NM_001164508.2(NEB):c.448G>A (p.Val150Ile)
|
rs376288418
|
0.00003
|
|
NM_001164508.2(NEB):c.475C>T (p.His159Tyr)
|
rs776746330
|
0.00003
|
|
NM_001164508.2(NEB):c.5121A>G (p.Ala1707=)
|
rs371962475
|
0.00003
|
|
NM_001164508.2(NEB):c.5182G>A (p.Ala1728Thr)
|
rs371639863
|
0.00003
|
|
NM_001164508.2(NEB):c.5828T>C (p.Leu1943Pro)
|
rs531692437
|
0.00003
|
|
NM_001164508.2(NEB):c.5854A>G (p.Met1952Val)
|
rs200649387
|
0.00003
|
|
NM_001164508.2(NEB):c.6135T>C (p.Asp2045=)
|
rs886042654
|
0.00003
|
|
NM_001164508.2(NEB):c.6244G>A (p.Glu2082Lys)
|
rs372667149
|
0.00003
|
|
NM_001164508.2(NEB):c.6400A>G (p.Asn2134Asp)
|
rs751935179
|
0.00003
|
|
NM_001164508.2(NEB):c.6449C>T (p.Ala2150Val)
|
rs375256600
|
0.00003
|
|
NM_001164508.2(NEB):c.7252T>A (p.Trp2418Arg)
|
rs780437384
|
0.00003
|
|
NM_001164508.2(NEB):c.7623C>T (p.Ala2541=)
|
rs371570995
|
0.00003
|
|
NM_001164508.2(NEB):c.7627C>T (p.Arg2543Trp)
|
rs368148074
|
0.00003
|
|
NM_001164508.2(NEB):c.8738T>C (p.Ile2913Thr)
|
rs368373064
|
0.00003
|
|
NM_001164508.2(NEB):c.8873C>T (p.Ala2958Val)
|
rs768058972
|
0.00003
|
|
NM_001164508.2(NEB):c.9743A>G (p.Asn3248Ser)
|
rs139548702
|
0.00003
|
|
NM_001164508.2(NEB):c.9769G>A (p.Asp3257Asn)
|
rs780275367
|
0.00003
|
|
NM_001164688.2(RD3):c.150G>A (p.Ala50=)
|
rs751609154
|
0.00003
|
|
NM_001165963.4(SCN1A):c.144C>T (p.Gly48=)
|
rs886043534
|
0.00003
|
|
NM_001165963.4(SCN1A):c.4547C>T (p.Ser1516Leu)
|
rs139300715
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.1962C>T (p.Ser654=)
|
rs757870828
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.2185-15C>T
|
rs780822241
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.3397+11G>T
|
rs370597983
|
0.00003
|
|
NM_001166114.2(PNPLA6):c.3990C>T (p.Pro1330=)
|
rs535388759
|
0.00003
|
|
NM_001170535.3(ATAD3A):c.384C>T (p.Ala128=)
|
rs763685989
|
0.00003
|
|
NM_001170629.2(CHD8):c.5346A>G (p.Ala1782=)
|
rs766317271
|
0.00003
|
|
NM_001170629.2(CHD8):c.5816G>A (p.Arg1939His)
|
rs751815253
|
0.00003
|
|
NM_001170629.2(CHD8):c.667G>C (p.Val223Leu)
|
rs369329090
|
0.00003
|
|
NM_001170629.2(CHD8):c.7490A>C (p.His2497Pro)
|
rs866434305
|
0.00003
|
|
NM_001171.6(ABCC6):c.179G>A (p.Arg60Gln)
|
rs183648123
|
0.00003
|
|
NM_001174089.2(SLC4A11):c.1668G>A (p.Ala556=)
|
rs368073003
|
0.00003
|
|
NM_001174150.2(ARL13B):c.1007G>A (p.Arg336Gln)
|
rs550306731
|
0.00003
|
|
NM_001177316.2(SLC34A3):c.458T>C (p.Val153Ala)
|
rs139302994
|
0.00003
|
|
NM_001177316.2(SLC34A3):c.978C>T (p.Ile326=)
|
rs886044633
|
0.00003
|
|
NM_001182.5(ALDH7A1):c.1489+4C>T
|
rs775065938
|
0.00003
|
|
NM_001182.5(ALDH7A1):c.394-15G>A
|
rs766287925
|
0.00003
|
|
NM_001184880.2(PCDH19):c.1548C>T (p.Tyr516=)
|
rs587784295
|
0.00003
|
|
NM_001190274.2(FBXO11):c.691C>T (p.Pro231Ser)
|
rs373208804
|
0.00003
|
|
NM_001193315.2(VIPAS39):c.1089+8C>G
|
rs371371767
|
0.00003
|
|
NM_001193315.2(VIPAS39):c.246C>T (p.His82=)
|
rs569525220
|
0.00003
|
|
NM_001197104.2(KMT2A):c.3941C>T (p.Pro1314Leu)
|
rs150277124
|
0.00003
|
|
NM_001199107.2(TBC1D24):c.1022G>A (p.Arg341His)
|
rs754727069
|
0.00003
|
|
NM_001199107.2(TBC1D24):c.1410C>T (p.Ser470=)
|
rs553497128
|
0.00003
|
|
NM_001199397.3(NEK1):c.1063A>G (p.Arg355Gly)
|
rs35763578
|
0.00003
|
|
NM_001199397.3(NEK1):c.1500T>C (p.Ala500=)
|
rs776664093
|
0.00003
|
|
NM_001199397.3(NEK1):c.2136C>T (p.Gly712=)
|
rs760404694
|
0.00003
|
|
NM_001205293.3(CACNA1E):c.2518_2529del (p.Leu840_Glu843del)
|
rs1327484784
|
0.00003
|
|
NM_001205293.3(CACNA1E):c.6841G>A (p.Gly2281Arg)
|
rs746705934
|
0.00003
|
|
NM_001235.5(SERPINH1):c.565A>G (p.Thr189Ala)
|
rs138784081
|
0.00003
|
|
NM_001242896.3(DEPDC5):c.2010C>A (p.His670Gln)
|
rs752274547
|
0.00003
|
|
NM_001243279.3(ACSF3):c.1524G>A (p.Pro508=)
|
rs375187216
|
0.00003
|
|
NM_001244008.2(KIF1A):c.3703G>A (p.Asp1235Asn)
|
rs200257048
|
0.00003
|
|
NM_001244008.2(KIF1A):c.4584C>T (p.Ser1528=)
|
rs747267404
|
0.00003
|
|
NM_001253852.3(AP4B1):c.1044G>A (p.Val348=)
|
rs763730264
|
0.00003
|
|
NM_001256317.3(TMPRSS3):c.1266C>T (p.Ile422=)
|
rs372469227
|
0.00003
|
|
NM_001256545.2(MEGF10):c.781-15T>C
|
rs767842462
|
0.00003
|
|
NM_001256789.3(CACNA1F):c.209G>A (p.Arg70Gln)
|
rs781923569
|
0.00003
|
|
NM_001256789.3(CACNA1F):c.5563G>A (p.Gly1855Ser)
|
rs367608150
|
0.00003
|
|
NM_001267550.2(TTN):c.100116C>T (p.Phe33372=)
|
rs770089807
|
0.00003
|
|
NM_001267550.2(TTN):c.100534A>T (p.Asn33512Tyr)
|
rs778965506
|
0.00003
|
|
NM_001267550.2(TTN):c.10162C>T (p.Arg3388Trp)
|
rs758680640
|
0.00003
|
|
NM_001267550.2(TTN):c.102790C>T (p.Leu34264Phe)
|
rs773984912
|
0.00003
|
|
NM_001267550.2(TTN):c.103913G>A (p.Arg34638His)
|
rs371528685
|
0.00003
|
|
NM_001267550.2(TTN):c.103946G>A (p.Arg34649Gln)
|
rs397517788
|
0.00003
|
|
NM_001267550.2(TTN):c.104812C>T (p.Leu34938=)
|
rs755726554
|
0.00003
|
|
NM_001267550.2(TTN):c.105141G>A (p.Glu35047=)
|
rs752897450
|
0.00003
|
|
NM_001267550.2(TTN):c.105182C>T (p.Ala35061Val)
|
rs762136167
|
0.00003
|
|
NM_001267550.2(TTN):c.105374C>T (p.Thr35125Met)
|
rs747161494
|
0.00003
|
|
NM_001267550.2(TTN):c.105642C>A (p.Phe35214Leu)
|
rs560557634
|
0.00003
|
|
NM_001267550.2(TTN):c.106827T>G (p.Ile35609Met)
|
rs727504540
|
0.00003
|
|
NM_001267550.2(TTN):c.10682A>G (p.Gln3561Arg)
|
rs727503676
|
0.00003
|
|
NM_001267550.2(TTN):c.107450C>T (p.Ser35817Leu)
|
rs766440492
|
0.00003
|
|
NM_001267550.2(TTN):c.11756C>A (p.Thr3919Asn)
|
rs727503661
|
0.00003
|
|
NM_001267550.2(TTN):c.12103A>G (p.Met4035Val)
|
rs727503659
|
0.00003
|
|
NM_001267550.2(TTN):c.12564C>A (p.Ala4188=)
|
rs547338168
|
0.00003
|
|
NM_001267550.2(TTN):c.1288G>A (p.Val430Ile)
|
rs371639583
|
0.00003
|
|
NM_001267550.2(TTN):c.13213G>A (p.Ala4405Thr)
|
rs794729253
|
0.00003
|
|
NM_001267550.2(TTN):c.1398+5G>A
|
rs542965530
|
0.00003
|
|
NM_001267550.2(TTN):c.14152A>G (p.Lys4718Glu)
|
rs757119133
|
0.00003
|
|
NM_001267550.2(TTN):c.14339G>A (p.Ser4780Asn)
|
rs147879266
|
0.00003
|
|
NM_001267550.2(TTN):c.14588G>A (p.Gly4863Glu)
|
rs375680312
|
0.00003
|
|
NM_001267550.2(TTN):c.15659A>G (p.Asn5220Ser)
|
rs565670799
|
0.00003
|
|
NM_001267550.2(TTN):c.16126C>A (p.Leu5376Met)
|
rs72648936
|
0.00003
|
|
NM_001267550.2(TTN):c.17228G>A (p.Arg5743Gln)
|
rs753892271
|
0.00003
|
|
NM_001267550.2(TTN):c.19054A>G (p.Arg6352Gly)
|
rs569003242
|
0.00003
|
|
NM_001267550.2(TTN):c.19728C>T (p.Phe6576=)
|
rs751902051
|
0.00003
|
|
NM_001267550.2(TTN):c.19922C>A (p.Thr6641Asn)
|
rs747240394
|
0.00003
|
|
NM_001267550.2(TTN):c.19963G>A (p.Asp6655Asn)
|
rs397517493
|
0.00003
|
|
NM_001267550.2(TTN):c.21332T>C (p.Met7111Thr)
|
rs374408615
|
0.00003
|
|
NM_001267550.2(TTN):c.22942G>A (p.Glu7648Lys)
|
rs397517502
|
0.00003
|
|
NM_001267550.2(TTN):c.23308G>A (p.Gly7770Arg)
|
rs374739582
|
0.00003
|
|
NM_001267550.2(TTN):c.2422C>T (p.Arg808Cys)
|
rs149155733
|
0.00003
|
|
NM_001267550.2(TTN):c.24621C>T (p.Asp8207=)
|
rs751733811
|
0.00003
|
|
NM_001267550.2(TTN):c.24833G>C (p.Gly8278Ala)
|
rs778611558
|
0.00003
|
|
NM_001267550.2(TTN):c.24905C>A (p.Thr8302Lys)
|
rs549604128
|
0.00003
|
|
NM_001267550.2(TTN):c.25829A>G (p.His8610Arg)
|
rs561059250
|
0.00003
|
|
NM_001267550.2(TTN):c.2605A>T (p.Thr869Ser)
|
rs370962244
|
0.00003
|
|
NM_001267550.2(TTN):c.26380T>G (p.Leu8794Val)
|
rs372229450
|
0.00003
|
|
NM_001267550.2(TTN):c.2650G>A (p.Ala884Thr)
|
rs772195446
|
0.00003
|
|
NM_001267550.2(TTN):c.26893G>A (p.Glu8965Lys)
|
rs200325324
|
0.00003
|
|
NM_001267550.2(TTN):c.27350G>C (p.Arg9117Thr)
|
rs375907742
|
0.00003
|
|
NM_001267550.2(TTN):c.27676T>C (p.Cys9226Arg)
|
rs372820178
|
0.00003
|
|
NM_001267550.2(TTN):c.28127C>G (p.Thr9376Arg)
|
rs749875409
|
0.00003
|
|
NM_001267550.2(TTN):c.28262C>T (p.Thr9421Met)
|
rs375209383
|
0.00003
|
|
NM_001267550.2(TTN):c.2998C>T (p.Leu1000Phe)
|
rs140953779
|
0.00003
|
|
NM_001267550.2(TTN):c.31841C>A (p.Ala10614Asp)
|
rs376754004
|
0.00003
|
|
NM_001267550.2(TTN):c.32555-12G>T
|
rs397517540
|
0.00003
|
|
NM_001267550.2(TTN):c.33966G>A (p.Pro11322=)
|
rs373083865
|
0.00003
|
|
NM_001267550.2(TTN):c.34391A>G (p.Lys11464Arg)
|
rs786205396
|
0.00003
|
|
NM_001267550.2(TTN):c.34675A>G (p.Ile11559Val)
|
rs752903377
|
0.00003
|
|
NM_001267550.2(TTN):c.35083G>A (p.Glu11695Lys)
|
rs376117402
|
0.00003
|
|
NM_001267550.2(TTN):c.35249T>C (p.Ile11750Thr)
|
rs398124447
|
0.00003
|
|
NM_001267550.2(TTN):c.3670T>C (p.Leu1224=)
|
rs764873258
|
0.00003
|
|
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp)
|
rs199889888
|
0.00003
|
|
NM_001267550.2(TTN):c.41406C>T (p.Cys13802=)
|
rs749356221
|
0.00003
|
|
NM_001267550.2(TTN):c.41703T>C (p.Thr13901=)
|
rs756282138
|
0.00003
|
|
NM_001267550.2(TTN):c.44223G>A (p.Thr14741=)
|
rs368830196
|
0.00003
|
|
NM_001267550.2(TTN):c.44349C>T (p.Phe14783=)
|
rs367744803
|
0.00003
|
|
NM_001267550.2(TTN):c.44813T>C (p.Val14938Ala)
|
rs571522834
|
0.00003
|
|
NM_001267550.2(TTN):c.44916T>A (p.Val14972=)
|
rs373390402
|
0.00003
|
|
NM_001267550.2(TTN):c.44987G>A (p.Arg14996His)
|
rs762128685
|
0.00003
|
|
NM_001267550.2(TTN):c.45567C>T (p.Tyr15189=)
|
rs1455525236
|
0.00003
|
|
NM_001267550.2(TTN):c.46147G>C (p.Glu15383Gln)
|
rs773073914
|
0.00003
|
|
NM_001267550.2(TTN):c.46221C>T (p.Asp15407=)
|
rs370808856
|
0.00003
|
|
NM_001267550.2(TTN):c.4650G>A (p.Val1550=)
|
rs915170239
|
0.00003
|
|
NM_001267550.2(TTN):c.46847C>T (p.Thr15616Met)
|
rs368057764
|
0.00003
|
|
NM_001267550.2(TTN):c.47516T>C (p.Ile15839Thr)
|
rs764388462
|
0.00003
|
|
NM_001267550.2(TTN):c.47978C>A (p.Thr15993Asn)
|
rs727503622
|
0.00003
|
|
NM_001267550.2(TTN):c.48164G>A (p.Arg16055His)
|
rs72677238
|
0.00003
|
|
NM_001267550.2(TTN):c.48827T>C (p.Ile16276Thr)
|
rs759916327
|
0.00003
|
|
NM_001267550.2(TTN):c.49366C>T (p.Arg16456Cys)
|
rs727504986
|
0.00003
|
|
NM_001267550.2(TTN):c.49395C>T (p.Asp16465=)
|
rs749308557
|
0.00003
|
|
NM_001267550.2(TTN):c.49527A>G (p.Thr16509=)
|
rs727505248
|
0.00003
|
|
NM_001267550.2(TTN):c.50077G>A (p.Val16693Ile)
|
rs377141765
|
0.00003
|
|
NM_001267550.2(TTN):c.50669A>C (p.Glu16890Ala)
|
rs752204728
|
0.00003
|
|
NM_001267550.2(TTN):c.50812G>C (p.Glu16938Gln)
|
rs72677250
|
0.00003
|
|
NM_001267550.2(TTN):c.5147G>A (p.Arg1716His)
|
rs771659260
|
0.00003
|
|
NM_001267550.2(TTN):c.51961C>T (p.Arg17321Cys)
|
rs752764827
|
0.00003
|
|
NM_001267550.2(TTN):c.52006G>A (p.Val17336Ile)
|
rs567781604
|
0.00003
|
|
NM_001267550.2(TTN):c.52052T>C (p.Val17351Ala)
|
rs565423253
|
0.00003
|
|
NM_001267550.2(TTN):c.52242C>T (p.Pro17414=)
|
rs765216874
|
0.00003
|
|
NM_001267550.2(TTN):c.53881+4C>T
|
rs187632918
|
0.00003
|
|
NM_001267550.2(TTN):c.53943A>T (p.Gly17981=)
|
rs367580862
|
0.00003
|
|
NM_001267550.2(TTN):c.54054G>A (p.Lys18018=)
|
rs761146363
|
0.00003
|
|
NM_001267550.2(TTN):c.54140C>T (p.Ala18047Val)
|
rs373815064
|
0.00003
|
|
NM_001267550.2(TTN):c.55692T>A (p.Pro18564=)
|
rs200864020
|
0.00003
|
|
NM_001267550.2(TTN):c.55988A>G (p.Asn18663Ser)
|
rs368350844
|
0.00003
|
|
NM_001267550.2(TTN):c.56171A>G (p.Lys18724Arg)
|
rs201091423
|
0.00003
|
|
NM_001267550.2(TTN):c.56403A>G (p.Gln18801=)
|
rs553313488
|
0.00003
|
|
NM_001267550.2(TTN):c.56960T>C (p.Ile18987Thr)
|
rs373351577
|
0.00003
|
|
NM_001267550.2(TTN):c.5698G>A (p.Val1900Met)
|
rs750823043
|
0.00003
|
|
NM_001267550.2(TTN):c.5741C>T (p.Ala1914Val)
|
rs374203813
|
0.00003
|
|
NM_001267550.2(TTN):c.57777G>A (p.Ala19259=)
|
rs376930907
|
0.00003
|
|
NM_001267550.2(TTN):c.583+4C>T
|
rs764670848
|
0.00003
|
|
NM_001267550.2(TTN):c.58613C>A (p.Thr19538Lys)
|
rs370686112
|
0.00003
|
|
NM_001267550.2(TTN):c.60008G>A (p.Arg20003His)
|
rs756091180
|
0.00003
|
|
NM_001267550.2(TTN):c.60782C>T (p.Thr20261Ile)
|
rs555901678
|
0.00003
|
|
NM_001267550.2(TTN):c.60954G>A (p.Val20318=)
|
rs748022439
|
0.00003
|
|
NM_001267550.2(TTN):c.62011G>A (p.Glu20671Lys)
|
rs770684884
|
0.00003
|
|
NM_001267550.2(TTN):c.62030T>C (p.Ile20677Thr)
|
rs558670891
|
0.00003
|
|
NM_001267550.2(TTN):c.62468G>A (p.Arg20823His)
|
rs758019778
|
0.00003
|
|
NM_001267550.2(TTN):c.62611C>G (p.Leu20871Val)
|
rs767670018
|
0.00003
|
|
NM_001267550.2(TTN):c.62901T>C (p.Pro20967=)
|
rs1245531460
|
0.00003
|
|
NM_001267550.2(TTN):c.63793G>A (p.Asp21265Asn)
|
rs794729474
|
0.00003
|
|
NM_001267550.2(TTN):c.65276-16C>T
|
rs370634364
|
0.00003
|
|
NM_001267550.2(TTN):c.65371G>A (p.Gly21791Ser)
|
rs370878527
|
0.00003
|
|
NM_001267550.2(TTN):c.66650T>G (p.Phe22217Cys)
|
rs764330098
|
0.00003
|
|
NM_001267550.2(TTN):c.6668A>T (p.His2223Leu)
|
rs372979075
|
0.00003
|
|
NM_001267550.2(TTN):c.6820C>G (p.Gln2274Glu)
|
rs145649088
|
0.00003
|
|
NM_001267550.2(TTN):c.69044C>T (p.Ala23015Val)
|
rs771710562
|
0.00003
|
|
NM_001267550.2(TTN):c.6971C>T (p.Thr2324Met)
|
rs760633130
|
0.00003
|
|
NM_001267550.2(TTN):c.70044C>T (p.Ala23348=)
|
rs771534964
|
0.00003
|
|
NM_001267550.2(TTN):c.71981C>T (p.Ala23994Val)
|
rs772886864
|
0.00003
|
|
NM_001267550.2(TTN):c.72358C>T (p.Leu24120Phe)
|
rs372309164
|
0.00003
|
|
NM_001267550.2(TTN):c.73765T>C (p.Tyr24589His)
|
rs371821218
|
0.00003
|
|
NM_001267550.2(TTN):c.74546G>A (p.Arg24849Gln)
|
rs745488276
|
0.00003
|
|
NM_001267550.2(TTN):c.75734G>A (p.Arg25245Lys)
|
rs397517701
|
0.00003
|
|
NM_001267550.2(TTN):c.78993A>G (p.Arg26331=)
|
rs745659756
|
0.00003
|
|
NM_001267550.2(TTN):c.79315C>T (p.Arg26439Cys)
|
rs372968732
|
0.00003
|
|
NM_001267550.2(TTN):c.79685G>A (p.Arg26562Gln)
|
rs538960023
|
0.00003
|
|
NM_001267550.2(TTN):c.7975C>G (p.Leu2659Val)
|
rs747894424
|
0.00003
|
|
NM_001267550.2(TTN):c.81250A>G (p.Ile27084Val)
|
rs371498697
|
0.00003
|
|
NM_001267550.2(TTN):c.81844A>G (p.Lys27282Glu)
|
rs761201021
|
0.00003
|
|
NM_001267550.2(TTN):c.84976C>T (p.Arg28326Trp)
|
rs749633038
|
0.00003
|
|
NM_001267550.2(TTN):c.85389C>T (p.Leu28463=)
|
rs144731702
|
0.00003
|
|
NM_001267550.2(TTN):c.85450G>A (p.Asp28484Asn)
|
rs56330345
|
0.00003
|
|
NM_001267550.2(TTN):c.86003T>C (p.Ile28668Thr)
|
rs374022393
|
0.00003
|
|
NM_001267550.2(TTN):c.87815A>G (p.Tyr29272Cys)
|
rs886039083
|
0.00003
|
|
NM_001267550.2(TTN):c.89295T>C (p.Ala29765=)
|
rs375374658
|
0.00003
|
|
NM_001267550.2(TTN):c.89313C>T (p.Val29771=)
|
rs746897918
|
0.00003
|
|
NM_001267550.2(TTN):c.89984T>C (p.Ile29995Thr)
|
rs754676727
|
0.00003
|
|
NM_001267550.2(TTN):c.90180C>T (p.Ser30060=)
|
rs1171957663
|
0.00003
|
|
NM_001267550.2(TTN):c.90198T>G (p.Val30066=)
|
rs761842174
|
0.00003
|
|
NM_001267550.2(TTN):c.90332T>C (p.Leu30111Pro)
|
rs368516973
|
0.00003
|
|
NM_001267550.2(TTN):c.9163+5G>C
|
rs775448783
|
0.00003
|
|
NM_001267550.2(TTN):c.9226A>G (p.Met3076Val)
|
rs766144077
|
0.00003
|
|
NM_001267550.2(TTN):c.92750T>C (p.Val30917Ala)
|
rs748545482
|
0.00003
|
|
NM_001267550.2(TTN):c.92895C>T (p.Asn30965=)
|
rs1379558944
|
0.00003
|
|
NM_001267550.2(TTN):c.93107T>C (p.Met31036Thr)
|
rs376942948
|
0.00003
|
|
NM_001267550.2(TTN):c.93182G>A (p.Arg31061His)
|
rs727504923
|
0.00003
|
|
NM_001267550.2(TTN):c.94075G>A (p.Val31359Ile)
|
rs780436747
|
0.00003
|
|
NM_001267550.2(TTN):c.94348C>T (p.Arg31450Cys)
|
rs541040798
|
0.00003
|
|
NM_001267550.2(TTN):c.95068G>A (p.Val31690Met)
|
rs727503543
|
0.00003
|
|
NM_001267550.2(TTN):c.95149G>A (p.Val31717Ile)
|
rs150930737
|
0.00003
|
|
NM_001267550.2(TTN):c.96008T>C (p.Ile32003Thr)
|
rs745962752
|
0.00003
|
|
NM_001267550.2(TTN):c.96708A>G (p.Gly32236=)
|
rs752066259
|
0.00003
|
|
NM_001267550.2(TTN):c.96921T>C (p.Asp32307=)
|
rs771385738
|
0.00003
|
|
NM_001267550.2(TTN):c.9701A>G (p.Asn3234Ser)
|
rs397517791
|
0.00003
|
|
NM_001267550.2(TTN):c.97442G>A (p.Gly32481Glu)
|
rs201364164
|
0.00003
|
|
NM_001267550.2(TTN):c.97481G>A (p.Arg32494His)
|
rs371645048
|
0.00003
|
|
NM_001267550.2(TTN):c.98098+3G>A
|
rs556524594
|
0.00003
|
|
NM_001267550.2(TTN):c.98252T>C (p.Ile32751Thr)
|
rs746586029
|
0.00003
|
|
NM_001267550.2(TTN):c.98606G>A (p.Arg32869His)
|
rs587780495
|
0.00003
|
|
NM_001267550.2(TTN):c.9884C>T (p.Thr3295Met)
|
rs191708454
|
0.00003
|
|
NM_001267550.2(TTN):c.99536T>C (p.Val33179Ala)
|
rs576759867
|
0.00003
|
|
NM_001267550.2(TTN):c.99840T>C (p.Asp33280=)
|
rs375178211
|
0.00003
|
|
NM_001271.4(CHD2):c.881G>T (p.Gly294Val)
|
rs771390521
|
0.00003
|
|
NM_001273.5(CHD4):c.371A>G (p.Lys124Arg)
|
rs371268726
|
0.00003
|
|
NM_001277115.2(DNAH11):c.2329C>T (p.Leu777Phe)
|
rs1163253626
|
0.00003
|
|
NM_001278064.2(GRM1):c.2026G>A (p.Val676Met)
|
rs752403373
|
0.00003
|
|
NM_001278116.2(L1CAM):c.3322+11G>A
|
rs1372534909
|
0.00003
|
|
NM_001278116.2(L1CAM):c.3523G>A (p.Glu1175Lys)
|
rs1064796541
|
0.00003
|
|
NM_001278116.2(L1CAM):c.385C>T (p.Arg129Trp)
|
rs201978087
|
0.00003
|
|
NM_001282531.3(ADNP):c.2849A>G (p.His950Arg)
|
rs1282824691
|
0.00003
|
|
NM_001283009.2(RTEL1):c.396-27T>C
|
rs774523585
|
0.00003
|
|
NM_001287.6(CLCN7):c.435C>T (p.Asp145=)
|
rs201964194
|
0.00003
|
|
NM_001292063.2(OTOG):c.7995C>T (p.Cys2665=)
|
rs200809116
|
0.00003
|
|
NM_001319074.4(RAX2):c.500G>A (p.Arg167Gln)
|
rs202103390
|
0.00003
|
|
NM_001330.5(CTF1):c.145-10G>A
|
rs397516645
|
0.00003
|
|
NM_001330078.2(NRXN1):c.3403A>G (p.Ile1135Val)
|
rs765360600
|
0.00003
|
|
NM_001330078.2(NRXN1):c.600C>T (p.Gly200=)
|
rs201481698
|
0.00003
|
|
NM_001330078.2(NRXN1):c.777C>T (p.Asp259=)
|
rs587780407
|
0.00003
|
|
NM_001330260.2(SCN8A):c.4590G>A (p.Met1530Ile)
|
rs771231471
|
0.00003
|
|
NM_001330260.2(SCN8A):c.491C>T (p.Thr164Met)
|
rs775272996
|
0.00003
|
|
NM_001348800.3(ZBTB20):c.10C>T (p.Arg4Trp)
|
rs1003856768
|
0.00003
|
|
NM_001349338.3(FOXP1):c.1344G>A (p.Ser448=)
|
rs143503790
|
0.00003
|
|
NM_001349338.3(FOXP1):c.1902C>T (p.His634=)
|
rs749771909
|
0.00003
|
|
NM_001352514.2(HLCS):c.1821G>A (p.Leu607=)
|
rs147495853
|
0.00003
|
|
NM_001354604.2(MITF):c.1179+4C>T
|
rs749869303
|
0.00003
|
|
NM_001355436.2(SPTB):c.5279C>T (p.Ala1760Val)
|
rs778913256
|
0.00003
|
|
NM_001355436.2(SPTB):c.5810C>G (p.Ser1937Cys)
|
rs764560431
|
0.00003
|
|
NM_001358530.2(MOCS1):c.1362C>T (p.Asp454=)
|
rs771259156
|
0.00003
|
|
NM_001360.3(DHCR7):c.1389C>T (p.Thr463=)
|
rs200477386
|
0.00003
|
|
NM_001360.3(DHCR7):c.198C>T (p.Cys66=)
|
rs775127532
|
0.00003
|
|
NM_001360.3(DHCR7):c.375C>T (p.Tyr125=)
|
rs779401555
|
0.00003
|
|
NM_001365088.1(SLC12A6):c.1005C>T (p.Ile335=)
|
rs35855196
|
0.00003
|
|
NM_001365088.1(SLC12A6):c.230C>G (p.Pro77Arg)
|
rs369793136
|
0.00003
|
|
NM_001365276.2(TNXB):c.8301C>T (p.Thr2767=)
|
rs760906844
|
0.00003
|
|
NM_001365536.1(SCN9A):c.829C>A (p.Arg277=)
|
rs121908916
|
0.00003
|
|
NM_001365951.3(KIF1B):c.-5T>C
|
rs200491456
|
0.00003
|
|
NM_001367624.2(ZNF469):c.1508G>A (p.Arg503Gln)
|
rs550263442
|
0.00003
|
|
NM_001367624.2(ZNF469):c.2123C>T (p.Ala708Val)
|
rs1327795344
|
0.00003
|
|
NM_001367624.2(ZNF469):c.3550G>A (p.Ala1184Thr)
|
rs553460850
|
0.00003
|
|
NM_001367624.2(ZNF469):c.4778C>T (p.Ser1593Leu)
|
rs768864900
|
0.00003
|
|
NM_001367624.2(ZNF469):c.6461C>T (p.Pro2154Leu)
|
rs950986305
|
0.00003
|
|
NM_001369.3(DNAH5):c.10041G>T (p.Met3347Ile)
|
rs536239913
|
0.00003
|
|
NM_001369.3(DNAH5):c.12104C>T (p.Thr4035Met)
|
rs200894344
|
0.00003
|
|
NM_001369.3(DNAH5):c.1435C>T (p.Arg479Cys)
|
rs200494845
|
0.00003
|
|
NM_001369.3(DNAH5):c.1810T>C (p.Ser604Pro)
|
rs769275003
|
0.00003
|
|
NM_001369.3(DNAH5):c.3064G>A (p.Val1022Ile)
|
rs375218798
|
0.00003
|
|
NM_001369.3(DNAH5):c.3320A>T (p.Tyr1107Phe)
|
rs367913308
|
0.00003
|
|
NM_001369.3(DNAH5):c.349G>A (p.Glu117Lys)
|
rs116128702
|
0.00003
|
|
NM_001369.3(DNAH5):c.6859C>T (p.Arg2287Trp)
|
rs747326567
|
0.00003
|
|
NM_001369.3(DNAH5):c.7688T>G (p.Leu2563Arg)
|
rs187551830
|
0.00003
|
|
NM_001369.3(DNAH5):c.7823A>T (p.Asp2608Val)
|
rs189971831
|
0.00003
|
|
NM_001369.3(DNAH5):c.8190G>A (p.Thr2730=)
|
rs752656841
|
0.00003
|
|
NM_001369.3(DNAH5):c.8821-7A>G
|
rs776228125
|
0.00003
|
|
NM_001369369.1(FOXN1):c.1203C>A (p.Pro401=)
|
rs375002692
|
0.00003
|
|
NM_001369369.1(FOXN1):c.1815C>T (p.Ser605=)
|
rs369425799
|
0.00003
|
|
NM_001370259.2(MEN1):c.1165C>T (p.Arg389Trp)
|
rs566593066
|
0.00003
|
|
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=)
|
rs587780841
|
0.00003
|
|
NM_001370259.2(MEN1):c.566A>G (p.Asn189Ser)
|
rs587780844
|
0.00003
|
|
NM_001370595.2(COA8):c.476+7G>A
|
rs114895750
|
0.00003
|
|
NM_001371333.1(DIABLO):c.394G>A (p.Val132Met)
|
rs759692888
|
0.00003
|
|
NM_001374353.1(GLI2):c.4299G>T (p.Gln1433His)
|
rs201523549
|
0.00003
|
|
NM_001374385.1(ATP8B1):c.1071C>T (p.Ile357=)
|
rs775490128
|
0.00003
|
|
NM_001374385.1(ATP8B1):c.2418+4C>T
|
rs777913106
|
0.00003
|
|
NM_001374828.1(ARID1B):c.1238G>C (p.Gly413Ala)
|
rs749315126
|
0.00003
|
|
NM_001374828.1(ARID1B):c.3009G>A (p.Pro1003=)
|
rs587779742
|
0.00003
|
|
NM_001374828.1(ARID1B):c.3260T>C (p.Met1087Thr)
|
rs371523255
|
0.00003
|
|
NM_001376.5(DYNC1H1):c.10548C>T (p.Tyr3516=)
|
rs760532492
|
0.00003
|
|
NM_001376.5(DYNC1H1):c.11460+4G>A
|
rs201518717
|
0.00003
|
|
NM_001376.5(DYNC1H1):c.1296A>G (p.Val432=)
|
rs767564445
|
0.00003
|
|
NM_001376.5(DYNC1H1):c.13651G>A (p.Ala4551Thr)
|
rs145366078
|
0.00003
|
|
NM_001376.5(DYNC1H1):c.161C>T (p.Ala54Val)
|
rs772070566
|
0.00003
|
|
NM_001376.5(DYNC1H1):c.1861G>A (p.Asp621Asn)
|
rs755333803
|
0.00003
|
|
NM_001376.5(DYNC1H1):c.2672A>G (p.His891Arg)
|
rs774004189
|
0.00003
|
|
NM_001376.5(DYNC1H1):c.5197A>G (p.Ile1733Val)
|
rs138287354
|
0.00003
|
|
NM_001377.3(DYNC2H1):c.7149G>A (p.Thr2383=)
|
rs553516014
|
0.00003
|
|
NM_001378120.1(MBD5):c.1198G>A (p.Val400Ile)
|
rs377568191
|
0.00003
|
|
NM_001378120.1(MBD5):c.2095A>C (p.Ser699Arg)
|
rs774227790
|
0.00003
|
|
NM_001378120.1(MBD5):c.3602C>T (p.Ser1201Leu)
|
rs200985982
|
0.00003
|
|
NM_001378120.1(MBD5):c.422G>A (p.Arg141Gln)
|
rs200245855
|
0.00003
|
|
NM_001378120.1(MBD5):c.4887G>A (p.Leu1629=)
|
rs779662045
|
0.00003
|
|
NM_001378120.1(MBD5):c.884C>G (p.Thr295Ser)
|
rs368339420
|
0.00003
|
|
NM_001378120.1(MBD5):c.961A>G (p.Met321Val)
|
rs369869865
|
0.00003
|
|
NM_001378414.1(HDAC4):c.1458C>T (p.Val486=)
|
rs139841625
|
0.00003
|
|
NM_001378452.1(ITPR1):c.279C>T (p.His93=)
|
rs371299264
|
0.00003
|
|
NM_001378452.1(ITPR1):c.4233G>A (p.Pro1411=)
|
rs373572745
|
0.00003
|
|
NM_001378452.1(ITPR1):c.7272+15T>A
|
rs777868994
|
0.00003
|
|
NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=)
|
rs199603690
|
0.00003
|
|
NM_001378454.1(ALMS1):c.1432+4C>T
|
rs200933935
|
0.00003
|
|
NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=)
|
rs750362630
|
0.00003
|
|
NM_001378454.1(ALMS1):c.3432C>T (p.Tyr1144=)
|
rs768929630
|
0.00003
|
|
NM_001378454.1(ALMS1):c.9460A>T (p.Thr3154Ser)
|
rs553507775
|
0.00003
|
|
NM_001378964.1(CDON):c.2763C>T (p.Cys921=)
|
rs146413034
|
0.00003
|
|
NM_001378969.1(KCND3):c.1314G>A (p.Ser438=)
|
rs1247179970
|
0.00003
|
|
NM_001378969.1(KCND3):c.1370C>T (p.Thr457Met)
|
rs199637120
|
0.00003
|
|
NM_001379500.1(COL18A1):c.1221+12C>T
|
rs765348415
|
0.00003
|
|
NM_001379500.1(COL18A1):c.2684-9C>T
|
rs1002126692
|
0.00003
|
|
NM_001382391.1(CSPP1):c.1218G>C (p.Ala406=)
|
rs752326108
|
0.00003
|
|
NM_001382391.1(CSPP1):c.3296A>G (p.Glu1099Gly)
|
rs201629827
|
0.00003
|
|
NM_001384474.1(LOXHD1):c.6148A>G (p.Met2050Val)
|
rs141749060
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.1839A>C (p.Lys613Asn)
|
rs533310477
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.6172-3A>C
|
rs780811930
|
0.00003
|
|
NM_001385012.1(NBEA):c.73G>A (p.Ala25Thr)
|
rs1363004176
|
0.00003
|
|
NM_001385079.1(PDE10A):c.2896-8C>A
|
rs754387675
|
0.00003
|
|
NM_001386795.1(DTNA):c.1838C>T (p.Pro613Leu)
|
rs145425478
|
0.00003
|
|
NM_001386795.1(DTNA):c.68-7G>A
|
rs372126412
|
0.00003
|
|
NM_001394062.1(MACF1):c.21575G>A (p.Arg7192Gln)
|
rs752117651
|
0.00003
|
|
NM_001395413.1(POR):c.1176C>T (p.Tyr392=)
|
rs782192787
|
0.00003
|
|
NM_001395413.1(POR):c.315C>T (p.Tyr105=)
|
rs782376709
|
0.00003
|
|
NM_001429.4(EP300):c.2594C>T (p.Thr865Ile)
|
rs754168978
|
0.00003
|
|
NM_001429.4(EP300):c.952C>G (p.Pro318Ala)
|
rs762647727
|
0.00003
|
|
NM_001457.4(FLNB):c.1249G>A (p.Val417Met)
|
rs146583950
|
0.00003
|
|
NM_001457.4(FLNB):c.2005A>G (p.Thr669Ala)
|
rs147481678
|
0.00003
|
|
NM_001457.4(FLNB):c.3289G>A (p.Val1097Ile)
|
rs144874876
|
0.00003
|
|
NM_001457.4(FLNB):c.3652G>A (p.Ala1218Thr)
|
rs370716086
|
0.00003
|
|
NM_001457.4(FLNB):c.3792C>A (p.Asp1264Glu)
|
rs200622119
|
0.00003
|
|
NM_001457.4(FLNB):c.3826G>T (p.Ala1276Ser)
|
rs199912711
|
0.00003
|
|
NM_001457.4(FLNB):c.4062-8C>T
|
rs369254062
|
0.00003
|
|
NM_001457.4(FLNB):c.4170C>T (p.Phe1390=)
|
rs374070003
|
0.00003
|
|
NM_001457.4(FLNB):c.4185C>T (p.Tyr1395=)
|
rs373754367
|
0.00003
|
|
NM_001457.4(FLNB):c.4760G>A (p.Arg1587His)
|
rs756266678
|
0.00003
|
|
NM_001457.4(FLNB):c.6154C>T (p.Leu2052=)
|
rs372726521
|
0.00003
|
|
NM_001458.5(FLNC):c.1471G>A (p.Val491Met)
|
rs770264114
|
0.00003
|
|
NM_001458.5(FLNC):c.2130C>T (p.Asp710=)
|
rs778781499
|
0.00003
|
|
NM_001458.5(FLNC):c.2930-5C>T
|
rs371599113
|
0.00003
|
|
NM_001458.5(FLNC):c.4911C>G (p.Ser1637Arg)
|
rs1469272964
|
0.00003
|
|
NM_001458.5(FLNC):c.5273G>A (p.Arg1758Gln)
|
rs573984029
|
0.00003
|
|
NM_001458.5(FLNC):c.5377G>A (p.Val1793Met)
|
rs587780337
|
0.00003
|
|
NM_001458.5(FLNC):c.5984G>A (p.Arg1995His)
|
rs371508414
|
0.00003
|
|
NM_001458.5(FLNC):c.6040G>A (p.Val2014Met)
|
rs772477251
|
0.00003
|
|
NM_001458.5(FLNC):c.6471C>T (p.Asn2157=)
|
rs764877771
|
0.00003
|
|
NM_001458.5(FLNC):c.6595G>A (p.Gly2199Arg)
|
rs368977589
|
0.00003
|
|
NM_001458.5(FLNC):c.6779A>G (p.Lys2260Arg)
|
rs751019991
|
0.00003
|
|
NM_001482.3(GATM):c.1159+14A>G
|
rs368974196
|
0.00003
|
|
NM_001605.3(AARS1):c.1275T>C (p.Thr425=)
|
rs750552137
|
0.00003
|
|
NM_001609.4(ACADSB):c.675T>C (p.Pro225=)
|
rs770933347
|
0.00003
|
|
NM_001613.4(ACTA2):c.390T>C (p.Asn130=)
|
rs141933412
|
0.00003
|
|
NM_001701.4(BAAT):c.165C>T (p.Phe55=)
|
rs377631387
|
0.00003
|
|
NM_001711.6(BGN):c.793A>G (p.Ile265Val)
|
rs188309404
|
0.00003
|
|
NM_001754.5(RUNX1):c.1257G>A (p.Val419=)
|
rs1172332120
|
0.00003
|
|
NM_001754.5(RUNX1):c.585C>T (p.Ile195=)
|
rs2057541413
|
0.00003
|
|
NM_001793.6(CDH3):c.2178G>A (p.Pro726=)
|
rs398123626
|
0.00003
|
|
NM_001830.4(CLCN4):c.1319C>T (p.Thr440Met)
|
rs376745468
|
0.00003
|
|
NM_001830.4(CLCN4):c.2153G>A (p.Arg718Gln)
|
rs779824005
|
0.00003
|
|
NM_001844.5(COL2A1):c.1498G>A (p.Val500Ile)
|
rs768110640
|
0.00003
|
|
NM_001844.5(COL2A1):c.2259C>T (p.Gly753=)
|
rs781062223
|
0.00003
|
|
NM_001844.5(COL2A1):c.2302-3C>T
|
rs895256869
|
0.00003
|
|
NM_001844.5(COL2A1):c.2410-7C>T
|
rs767041085
|
0.00003
|
|
NM_001844.5(COL2A1):c.2946C>T (p.Ile982=)
|
rs555904044
|
0.00003
|
|
NM_001844.5(COL2A1):c.3652A>G (p.Ile1218Val)
|
rs374450416
|
0.00003
|
|
NM_001844.5(COL2A1):c.3961G>A (p.Glu1321Lys)
|
rs748248022
|
0.00003
|
|
NM_001844.5(COL2A1):c.506C>A (p.Pro169His)
|
rs746108926
|
0.00003
|
|
NM_001844.5(COL2A1):c.708+14C>T
|
rs769173275
|
0.00003
|
|
NM_001844.5(COL2A1):c.798G>A (p.Arg266=)
|
rs376753701
|
0.00003
|
|
NM_001845.6(COL4A1):c.1365C>T (p.Gly455=)
|
rs576636085
|
0.00003
|
|
NM_001845.6(COL4A1):c.2216C>T (p.Pro739Leu)
|
rs778390847
|
0.00003
|
|
NM_001845.6(COL4A1):c.3591C>T (p.Ala1197=)
|
rs768381482
|
0.00003
|
|
NM_001845.6(COL4A1):c.4029G>A (p.Pro1343=)
|
rs540983592
|
0.00003
|
|
NM_001848.3(COL6A1):c.1671C>T (p.Asp557=)
|
rs770099663
|
0.00003
|
|
NM_001848.3(COL6A1):c.2480C>T (p.Pro827Leu)
|
rs761774962
|
0.00003
|
|
NM_001848.3(COL6A1):c.2512G>A (p.Ala838Thr)
|
rs529770550
|
0.00003
|
|
NM_001848.3(COL6A1):c.423C>T (p.Leu141=)
|
rs373486149
|
0.00003
|
|
NM_001849.4(COL6A2):c.115+10G>T
|
rs200797233
|
0.00003
|
|
NM_001849.4(COL6A2):c.162G>A (p.Ser54=)
|
rs780123839
|
0.00003
|
|
NM_001849.4(COL6A2):c.1962C>T (p.Ser654=)
|
rs150253422
|
0.00003
|
|
NM_001849.4(COL6A2):c.2234G>A (p.Arg745Gln)
|
rs768280699
|
0.00003
|
|
NM_001849.4(COL6A2):c.2361G>A (p.Thr787=)
|
rs566966690
|
0.00003
|
|
NM_001849.4(COL6A2):c.612C>T (p.Ile204=)
|
rs773143298
|
0.00003
|
|
NM_001853.4(COL9A3):c.1095G>A (p.Glu365=)
|
rs776395616
|
0.00003
|
|
NM_001853.4(COL9A3):c.1548+7C>T
|
rs373996629
|
0.00003
|
|
NM_001853.4(COL9A3):c.1570C>T (p.Arg524Cys)
|
rs368767002
|
0.00003
|
|
NM_001854.4(COL11A1):c.1039G>A (p.Asp347Asn)
|
rs199942159
|
0.00003
|
|
NM_001854.4(COL11A1):c.1210G>A (p.Gly404Ser)
|
rs1156500992
|
0.00003
|
|
NM_001854.4(COL11A1):c.1245C>T (p.Ser415=)
|
rs371490794
|
0.00003
|
|
NM_001854.4(COL11A1):c.1262C>T (p.Ala421Val)
|
rs775644641
|
0.00003
|
|
NM_001854.4(COL11A1):c.3344C>T (p.Pro1115Leu)
|
rs958678153
|
0.00003
|
|
NM_001854.4(COL11A1):c.3357C>T (p.Ala1119=)
|
rs375400337
|
0.00003
|
|
NM_001854.4(COL11A1):c.3779C>A (p.Ala1260Glu)
|
rs750838060
|
0.00003
|
|
NM_001854.4(COL11A1):c.4067C>G (p.Pro1356Arg)
|
rs986400534
|
0.00003
|
|
NM_001854.4(COL11A1):c.698A>G (p.Tyr233Cys)
|
rs141304474
|
0.00003
|
|
NM_001875.5(CPS1):c.3472G>A (p.Val1158Ile)
|
rs555151297
|
0.00003
|
|
NM_001876.4(CPT1A):c.1518C>T (p.Gly506=)
|
rs573112017
|
0.00003
|
|
NM_001904.4(CTNNB1):c.452G>A (p.Arg151His)
|
rs200968230
|
0.00003
|
|
NM_001927.4(DES):c.229A>G (p.Thr77Ala)
|
rs769034192
|
0.00003
|
|
NM_001943.5(DSG2):c.1303G>A (p.Asp435Asn)
|
rs370509593
|
0.00003
|
|
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys)
|
rs576404380
|
0.00003
|
|
NM_001943.5(DSG2):c.2162A>G (p.His721Arg)
|
rs756912703
|
0.00003
|
|
NM_001943.5(DSG2):c.2234C>T (p.Thr745Met)
|
rs727504783
|
0.00003
|
|
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile)
|
rs200830807
|
0.00003
|
|
NM_001943.5(DSG2):c.706A>G (p.Thr236Ala)
|
rs727502985
|
0.00003
|
|
NM_001943.5(DSG2):c.84C>G (p.Val28=)
|
rs397516711
|
0.00003
|
|
NM_001953.5(TYMP):c.814G>A (p.Ala272Thr)
|
rs863224247
|
0.00003
|
|
NM_001999.4(FBN2):c.195G>A (p.Glu65=)
|
rs750055830
|
0.00003
|
|
NM_001999.4(FBN2):c.2214A>T (p.Gly738=)
|
rs201548788
|
0.00003
|
|
NM_001999.4(FBN2):c.3980A>G (p.Asn1327Ser)
|
rs762567430
|
0.00003
|
|
NM_001999.4(FBN2):c.4914C>T (p.Gly1638=)
|
rs1482008222
|
0.00003
|
|
NM_001999.4(FBN2):c.7338T>C (p.Asp2446=)
|
rs751824761
|
0.00003
|
|
NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser)
|
rs752201545
|
0.00003
|
|
NM_002047.4(GARS1):c.69G>A (p.Arg23=)
|
rs762624758
|
0.00003
|
|
NM_002055.5(GFAP):c.734T>C (p.Met245Thr)
|
rs151327900
|
0.00003
|
|
NM_002103.5(GYS1):c.222G>A (p.Arg74=)
|
rs748174034
|
0.00003
|
|
NM_002103.5(GYS1):c.741G>A (p.Ala247=)
|
rs3745692
|
0.00003
|
|
NM_002163.4(IRF8):c.601+4C>T
|
rs201757188
|
0.00003
|
|
NM_002180.3(IGHMBP2):c.1756+4C>T
|
rs778913429
|
0.00003
|
|
NM_002225.5(IVD):c.1139-8G>C
|
rs755640305
|
0.00003
|
|
NM_002225.5(IVD):c.264C>T (p.Gly88=)
|
rs377199313
|
0.00003
|
|
NM_002230.4(JUP):c.1222C>T (p.Leu408Phe)
|
rs369755953
|
0.00003
|
|
NM_002230.4(JUP):c.2189G>A (p.Ser730Asn)
|
rs782261124
|
0.00003
|
|
NM_002230.4(JUP):c.509C>T (p.Ser170Leu)
|
rs782284038
|
0.00003
|
|
NM_002246.3(KCNK3):c.1097C>T (p.Ala366Val)
|
rs773773071
|
0.00003
|
|
NM_002292.4(LAMB2):c.76+10C>T
|
rs370554848
|
0.00003
|
|
NM_002294.3(LAMP2):c.204C>G (p.Asp68Glu)
|
rs376215728
|
0.00003
|
|
NM_002294.3(LAMP2):c.398-3T>C
|
rs1045629648
|
0.00003
|
|
NM_002294.3(LAMP2):c.472A>G (p.Thr158Ala)
|
rs138374063
|
0.00003
|
|
NM_002294.3(LAMP2):c.601A>G (p.Ile201Val)
|
rs1362738445
|
0.00003
|
|
NM_002294.3(LAMP2):c.640C>A (p.Pro214Thr)
|
rs776101722
|
0.00003
|
|
NM_002317.7(LOX):c.697A>G (p.Met233Val)
|
rs764007081
|
0.00003
|
|
NM_002335.4(LRP5):c.1002G>A (p.Arg334=)
|
rs868085658
|
0.00003
|
|
NM_002335.4(LRP5):c.2241G>A (p.Leu747=)
|
rs867927445
|
0.00003
|
|
NM_002335.4(LRP5):c.738C>T (p.Ser246=)
|
rs768638466
|
0.00003
|
|
NM_002439.5(MSH3):c.237+7T>G
|
rs1405024198
|
0.00003
|
|
NM_002439.5(MSH3):c.582C>G (p.Asp194Glu)
|
rs749446559
|
0.00003
|
|
NM_002470.4(MYH3):c.593C>T (p.Thr198Ile)
|
rs750773513
|
0.00003
|
|
NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys)
|
rs727503236
|
0.00003
|
|
NM_002471.4(MYH6):c.3860-15T>G
|
rs200883903
|
0.00003
|
|
NM_002471.4(MYH6):c.4985C>T (p.Ala1662Val)
|
rs773445582
|
0.00003
|
|
NM_002471.4(MYH6):c.635C>T (p.Ala212Val)
|
rs780456381
|
0.00003
|
|
NM_002473.6(MYH9):c.1201G>A (p.Val401Ile)
|
rs369581570
|
0.00003
|
|
NM_002473.6(MYH9):c.193G>A (p.Val65Met)
|
rs377348805
|
0.00003
|
|
NM_002473.6(MYH9):c.209A>C (p.Asp70Ala)
|
rs764768999
|
0.00003
|
|
NM_002473.6(MYH9):c.233C>T (p.Pro78Leu)
|
rs150313549
|
0.00003
|
|
NM_002473.6(MYH9):c.5851G>A (p.Ala1951Thr)
|
rs775685559
|
0.00003
|
|
NM_002474.3(MYH11):c.1402-14C>T
|
rs375973110
|
0.00003
|
|
NM_002474.3(MYH11):c.3104T>C (p.Met1035Thr)
|
rs557463209
|
0.00003
|
|
NM_002474.3(MYH11):c.4735G>A (p.Asp1579Asn)
|
rs369751362
|
0.00003
|
|
NM_002474.3(MYH11):c.5421C>T (p.Ala1807=)
|
rs145857508
|
0.00003
|
|
NM_002474.3(MYH11):c.546C>T (p.Ala182=)
|
rs113577450
|
0.00003
|
|
NM_002485.5(NBN):c.207A>G (p.Lys69=)
|
rs754352569
|
0.00003
|
|
NM_002485.5(NBN):c.702+9G>A
|
rs748373099
|
0.00003
|
|
NM_002496.4(NDUFS8):c.170G>A (p.Arg57His)
|
rs370053943
|
0.00003
|
|
NM_002524.5(NRAS):c.553C>T (p.Pro185Ser)
|
rs374061873
|
0.00003
|
|
NM_002528.7(NTHL1):c.169C>T (p.Arg57Cys)
|
rs767591879
|
0.00003
|
|
NM_002528.7(NTHL1):c.446G>A (p.Arg149Gln)
|
rs150437839
|
0.00003
|
|
NM_002528.7(NTHL1):c.686-7C>G
|
rs529341502
|
0.00003
|
|
NM_002529.4(NTRK1):c.1473C>T (p.Ile491=)
|
rs373181158
|
0.00003
|
|
NM_002529.4(NTRK1):c.1778G>A (p.Arg593Gln)
|
rs748133401
|
0.00003
|
|
NM_002529.4(NTRK1):c.219C>T (p.Ile73=)
|
rs563296138
|
0.00003
|
|
NM_002529.4(NTRK1):c.2338C>T (p.Arg780Trp)
|
rs537948663
|
0.00003
|
|
NM_002529.4(NTRK1):c.2355C>T (p.Ala785=)
|
rs772156529
|
0.00003
|
|
NM_002529.4(NTRK1):c.676G>A (p.Gly226Ser)
|
rs760918699
|
0.00003
|
|
NM_002529.4(NTRK1):c.808G>A (p.Asp270Asn)
|
rs145222195
|
0.00003
|
|
NM_002529.4(NTRK1):c.954T>C (p.Asn318=)
|
rs769539870
|
0.00003
|
|
NM_002609.4(PDGFRB):c.164C>T (p.Ser55Leu)
|
rs147952898
|
0.00003
|
|
NM_002617.4(PEX10):c.280G>A (p.Val94Met)
|
rs142626035
|
0.00003
|
|
NM_002617.4(PEX10):c.601-75G>A
|
rs369211467
|
0.00003
|
|
NM_002633.3(PGM1):c.1144+10A>G
|
rs886046482
|
0.00003
|
|
NM_002641.4(PIGA):c.1381C>T (p.Arg461Trp)
|
rs752798208
|
0.00003
|
|
NM_002691.4(POLD1):c.2562C>T (p.Asp854=)
|
rs746579020
|
0.00003
|
|
NM_002691.4(POLD1):c.2953+4C>T
|
rs1057521166
|
0.00003
|
|
NM_002691.4(POLD1):c.3219-5C>T
|
rs748304578
|
0.00003
|
|
NM_002691.4(POLD1):c.758+5G>A
|
rs760003191
|
0.00003
|
|
NM_002691.4(POLD1):c.841-5C>T
|
rs530091118
|
0.00003
|
|
NM_002693.3(POLG):c.1780C>T (p.Leu594=)
|
rs778172428
|
0.00003
|
|
NM_002693.3(POLG):c.1956C>T (p.Ile652=)
|
rs757860628
|
0.00003
|
|
NM_002693.3(POLG):c.2027C>T (p.Ala676Val)
|
rs376306906
|
0.00003
|
|
NM_002693.3(POLG):c.3480C>T (p.Thr1160=)
|
rs1057521589
|
0.00003
|
|
NM_002693.3(POLG):c.3519G>A (p.Leu1173=)
|
rs953889846
|
0.00003
|
|
NM_002734.5(PRKAR1A):c.19G>A (p.Ala7Thr)
|
rs369210646
|
0.00003
|
|
NM_002755.4(MAP2K1):c.693+10G>A
|
rs377034924
|
0.00003
|
|
NM_002769.5(PRSS1):c.200+18G>A
|
rs778658500
|
0.00003
|
|
NM_002769.5(PRSS1):c.457G>A (p.Asp153Asn)
|
rs61735002
|
0.00003
|
|
NM_002775.5(HTRA1):c.957C>T (p.Thr319=)
|
rs373287445
|
0.00003
|
|
NM_002778.4(PSAP):c.798G>A (p.Ala266=)
|
rs199672678
|
0.00003
|
|
NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp)
|
rs143433437
|
0.00003
|
|
NM_002878.4(RAD51D):c.481-8C>T
|
rs762247126
|
0.00003
|
|
NM_002878.4(RAD51D):c.878C>T (p.Ala293Val)
|
rs769732230
|
0.00003
|
|
NM_002878.4(RAD51D):c.915C>G (p.Phe305Leu)
|
rs1316114457
|
0.00003
|
|
NM_002880.4(RAF1):c.1109-17G>C
|
rs770431112
|
0.00003
|
|
NM_002880.4(RAF1):c.53A>G (p.Lys18Arg)
|
rs150944421
|
0.00003
|
|
NM_002890.3(RASA1):c.885C>A (p.Asp295Glu)
|
rs145354256
|
0.00003
|
|
NM_002900.3(RBP3):c.717C>T (p.Ala239=)
|
rs146269396
|
0.00003
|
|
NM_002907.4(RECQL):c.867+4T>C
|
rs368804959
|
0.00003
|
|
NM_002907.4(RECQL):c.868-2A>G
|
rs571176607
|
0.00003
|
|
NM_002972.4(SBF1):c.5043+4C>T
|
rs373050155
|
0.00003
|
|
NM_003000.3(SDHB):c.-6G>A
|
rs2295056
|
0.00003
|
|
NM_003001.5(SDHC):c.99G>A (p.Thr33=)
|
rs145535502
|
0.00003
|
|
NM_003036.4(SKI):c.1573G>A (p.Val525Ile)
|
rs141961299
|
0.00003
|
|
NM_003036.4(SKI):c.1877A>T (p.Lys626Met)
|
rs774106502
|
0.00003
|
|
NM_003036.4(SKI):c.970-7A>G
|
rs199634070
|
0.00003
|
|
NM_003042.4(SLC6A1):c.582G>A (p.Glu194=)
|
rs372085480
|
0.00003
|
|
NM_003060.4(SLC22A5):c.1229G>A (p.Gly410Asp)
|
rs200125400
|
0.00003
|
|
NM_003060.4(SLC22A5):c.1587-11T>G
|
rs772775759
|
0.00003
|
|
NM_003060.4(SLC22A5):c.451G>A (p.Val151Met)
|
rs386134193
|
0.00003
|
|
NM_003060.4(SLC22A5):c.523G>A (p.Val175Met)
|
rs781721860
|
0.00003
|
|
NM_003060.4(SLC22A5):c.696G>A (p.Thr232=)
|
rs748677211
|
0.00003
|
|
NM_003072.5(SMARCA4):c.1286C>T (p.Ala429Val)
|
rs569715577
|
0.00003
|
|
NM_003072.5(SMARCA4):c.223-7C>G
|
rs762146990
|
0.00003
|
|
NM_003072.5(SMARCA4):c.3150C>T (p.Tyr1050=)
|
rs143160246
|
0.00003
|
|
NM_003072.5(SMARCA4):c.3952-13C>A
|
rs374611879
|
0.00003
|
|
NM_003072.5(SMARCA4):c.4271C>T (p.Pro1424Leu)
|
rs760654888
|
0.00003
|
|
NM_003072.5(SMARCA4):c.4826T>C (p.Leu1609Pro)
|
rs755493468
|
0.00003
|
|
NM_003072.5(SMARCA4):c.727G>A (p.Gly243Ser)
|
rs545634451
|
0.00003
|
|
NM_003072.5(SMARCA4):c.778A>C (p.Met260Leu)
|
rs1064795842
|
0.00003
|
|
NM_003073.5(SMARCB1):c.750G>A (p.Thr250=)
|
rs1049144154
|
0.00003
|
|
NM_003098.3(SNTA1):c.160G>C (p.Gly54Arg)
|
rs786205848
|
0.00003
|
|
NM_003119.4(SPG7):c.663G>A (p.Lys221=)
|
rs575421836
|
0.00003
|
|
NM_003200.5(TCF3):c.298+6T>C
|
rs370129424
|
0.00003
|
|
NM_003239.5(TGFB3):c.797G>A (p.Arg266His)
|
rs142069844
|
0.00003
|
|
NM_003240.5(LEFTY2):c.810T>C (p.Ile270=)
|
rs751370455
|
0.00003
|
|
NM_003242.6(TGFBR2):c.1470C>T (p.Asn490=)
|
rs141113059
|
0.00003
|
|
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=)
|
rs201560560
|
0.00003
|
|
NM_003242.6(TGFBR2):c.94+16278G>C
|
rs557449314
|
0.00003
|
|
NM_003283.6(TNNT1):c.47-6C>G
|
rs375682055
|
0.00003
|
|
NM_003322.6(TULP1):c.1323+9C>T
|
rs769417336
|
0.00003
|
|
NM_003331.5(TYK2):c.2646G>C (p.Pro882=)
|
rs184567726
|
0.00003
|
|
NM_003334.4(UBA1):c.1683T>C (p.Asp561=)
|
rs781873529
|
0.00003
|
|
NM_003383.5(VLDLR):c.1188T>C (p.Asp396=)
|
rs371219585
|
0.00003
|
|
NM_003383.5(VLDLR):c.1245C>T (p.Gly415=)
|
rs746308049
|
0.00003
|
|
NM_003384.3(VRK1):c.1069-9A>G
|
rs767585930
|
0.00003
|
|
NM_003476.5(CSRP3):c.-3A>C
|
rs760384315
|
0.00003
|
|
NM_003480.4(MFAP5):c.157G>A (p.Ala53Thr)
|
rs576618912
|
0.00003
|
|
NM_003482.4(KMT2D):c.12229C>T (p.Leu4077Phe)
|
rs774148221
|
0.00003
|
|
NM_003482.4(KMT2D):c.14836G>A (p.Val4946Ile)
|
rs756017412
|
0.00003
|
|
NM_003482.4(KMT2D):c.15080G>A (p.Arg5027Gln)
|
rs774403945
|
0.00003
|
|
NM_003482.4(KMT2D):c.3907-9T>G
|
rs367751308
|
0.00003
|
|
NM_003482.4(KMT2D):c.4941C>T (p.Thr1647=)
|
rs748740454
|
0.00003
|
|
NM_003482.4(KMT2D):c.5285G>C (p.Ser1762Thr)
|
rs777604931
|
0.00003
|
|
NM_003482.4(KMT2D):c.6638G>A (p.Gly2213Asp)
|
rs368767696
|
0.00003
|
|
NM_003482.4(KMT2D):c.7035G>A (p.Leu2345=)
|
rs398123756
|
0.00003
|
|
NM_003482.4(KMT2D):c.7526A>G (p.Lys2509Arg)
|
rs1373179700
|
0.00003
|
|
NM_003482.4(KMT2D):c.8137G>A (p.Ala2713Thr)
|
rs748969707
|
0.00003
|
|
NM_003482.4(KMT2D):c.9485G>A (p.Gly3162Asp)
|
rs773802581
|
0.00003
|
|
NM_003560.4(PLA2G6):c.1983G>A (p.Thr661=)
|
rs150572286
|
0.00003
|
|
NM_003560.4(PLA2G6):c.895-5C>T
|
rs372128546
|
0.00003
|
|
NM_003664.5(AP3B1):c.519A>G (p.Ala173=)
|
rs747459337
|
0.00003
|
|
NM_003680.4(YARS1):c.1099C>T (p.Arg367Trp)
|
rs376054085
|
0.00003
|
|
NM_003690.5(PRKRA):c.654G>A (p.Leu218=)
|
rs763093482
|
0.00003
|
|
NM_003721.4(RFXANK):c.501C>A (p.Gly167=)
|
rs145457604
|
0.00003
|
|
NM_003742.4(ABCB11):c.126C>T (p.Gly42=)
|
rs138800291
|
0.00003
|
|
NM_003742.4(ABCB11):c.2037G>A (p.Ala679=)
|
rs776223452
|
0.00003
|
|
NM_003742.4(ABCB11):c.2523G>A (p.Gly841=)
|
rs367874361
|
0.00003
|
|
NM_003742.4(ABCB11):c.3060G>A (p.Val1020=)
|
rs368622067
|
0.00003
|
|
NM_003742.4(ABCB11):c.3246T>C (p.Asp1082=)
|
rs750944055
|
0.00003
|
|
NM_003742.4(ABCB11):c.3411+10G>A
|
rs188996270
|
0.00003
|
|
NM_003791.4(MBTPS1):c.1658C>T (p.Ser553Leu)
|
rs553862782
|
0.00003
|
|
NM_003850.3(SUCLA2):c.80C>T (p.Ala27Val)
|
rs368407554
|
0.00003
|
|
NM_003896.4(ST3GAL5):c.849+15T>G
|
rs768216151
|
0.00003
|
|
NM_003907.3(EIF2B5):c.1914C>T (p.Arg638=)
|
rs751446315
|
0.00003
|
|
NM_003919.3(SGCE):c.410G>A (p.Arg137His)
|
rs548306335
|
0.00003
|
|
NM_003919.3(SGCE):c.470C>T (p.Pro157Leu)
|
rs768233445
|
0.00003
|
|
NM_003919.3(SGCE):c.471G>A (p.Pro157=)
|
rs747531940
|
0.00003
|
|
NM_003982.4(SLC7A7):c.1494T>C (p.Asp498=)
|
rs765682604
|
0.00003
|
|
NM_003999.3(OSMR):c.2538T>A (p.Asn846Lys)
|
rs771864692
|
0.00003
|
|
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu)
|
rs397516878
|
0.00003
|
|
NM_004006.3(DMD):c.1462C>T (p.Arg488Cys)
|
rs758932385
|
0.00003
|
|
NM_004006.3(DMD):c.1482+7G>T
|
rs766338928
|
0.00003
|
|
NM_004006.3(DMD):c.1919C>T (p.Thr640Met)
|
rs183677010
|
0.00003
|
|
NM_004006.3(DMD):c.3096C>G (p.Leu1032=)
|
rs770148717
|
0.00003
|
|
NM_004006.3(DMD):c.3814T>C (p.Leu1272=)
|
rs746405191
|
0.00003
|
|
NM_004006.3(DMD):c.3921+12A>G
|
rs760373690
|
0.00003
|
|
NM_004006.3(DMD):c.4046C>G (p.Ser1349Cys)
|
rs763514033
|
0.00003
|
|
NM_004006.3(DMD):c.404A>G (p.Asn135Ser)
|
rs764808552
|
0.00003
|
|
NM_004006.3(DMD):c.5230A>G (p.Asn1744Asp)
|
rs376234802
|
0.00003
|
|
NM_004006.3(DMD):c.5530C>A (p.Arg1844=)
|
rs1064325
|
0.00003
|
|
NM_004006.3(DMD):c.5869C>T (p.Arg1957Trp)
|
rs755477994
|
0.00003
|
|
NM_004006.3(DMD):c.6212G>A (p.Arg2071Lys)
|
rs774825173
|
0.00003
|
|
NM_004006.3(DMD):c.6614+7C>T
|
rs180719577
|
0.00003
|
|
NM_004006.3(DMD):c.7449C>T (p.Thr2483=)
|
rs766075840
|
0.00003
|
|
NM_004006.3(DMD):c.8218-5T>C
|
rs183643245
|
0.00003
|
|
NM_004006.3(DMD):c.8520A>G (p.Ala2840=)
|
rs767304792
|
0.00003
|
|
NM_004006.3(DMD):c.8643A>G (p.Leu2881=)
|
rs747605156
|
0.00003
|
|
NM_004006.3(DMD):c.8958G>A (p.Ala2986=)
|
rs755815057
|
0.00003
|
|
NM_004006.3(DMD):c.960+9A>G
|
rs886038537
|
0.00003
|
|
NM_004035.7(ACOX1):c.1944A>G (p.Glu648=)
|
rs374691393
|
0.00003
|
|
NM_004035.7(ACOX1):c.825C>T (p.Tyr275=)
|
rs542159010
|
0.00003
|
|
NM_004082.5(DCTN1):c.442C>T (p.Arg148Trp)
|
rs148810193
|
0.00003
|
|
NM_004086.3(COCH):c.1436A>T (p.Tyr479Phe)
|
rs757904271
|
0.00003
|
|
NM_004104.5(FASN):c.5103G>A (p.Ser1701=)
|
rs752285807
|
0.00003
|
|
NM_004153.4(ORC1):c.2571G>A (p.Ala857=)
|
rs192392819
|
0.00003
|
|
NM_004183.4(BEST1):c.1133A>G (p.Asn378Ser)
|
rs199998058
|
0.00003
|
|
NM_004187.5(KDM5C):c.4334G>A (p.Arg1445His)
|
rs782272528
|
0.00003
|
|
NM_004208.4(AIFM1):c.952G>A (p.Ala318Thr)
|
rs773680831
|
0.00003
|
|
NM_004239.4(TRIP11):c.4128G>T (p.Ser1376=)
|
rs373454645
|
0.00003
|
|
NM_004239.4(TRIP11):c.4206A>G (p.Gln1402=)
|
rs746081059
|
0.00003
|
|
NM_004239.4(TRIP11):c.4443G>A (p.Ala1481=)
|
rs372272441
|
0.00003
|
|
NM_004281.4(BAG3):c.509G>A (p.Arg170Gln)
|
rs140904592
|
0.00003
|
|
NM_004281.4(BAG3):c.781C>T (p.Arg261Trp)
|
rs548032105
|
0.00003
|
|
NM_004304.5(ALK):c.3210G>A (p.Gln1070=)
|
rs138178848
|
0.00003
|
|
NM_004304.5(ALK):c.3742C>T (p.Arg1248Ter)
|
rs145028315
|
0.00003
|
|
NM_004304.5(ALK):c.386G>T (p.Gly129Val)
|
rs760041708
|
0.00003
|
|
NM_004304.5(ALK):c.4425C>T (p.His1475=)
|
rs139039449
|
0.00003
|
|
NM_004304.5(ALK):c.595G>T (p.Gly199Cys)
|
rs747517546
|
0.00003
|
|
NM_004304.5(ALK):c.615C>G (p.Ser205=)
|
rs567498111
|
0.00003
|
|
NM_004304.5(ALK):c.872G>A (p.Arg291His)
|
rs572340007
|
0.00003
|
|
NM_004320.6(ATP2A1):c.1962G>A (p.Thr654=)
|
rs773807881
|
0.00003
|
|
NM_004329.3(BMPR1A):c.1596C>G (p.Ile532Met)
|
rs201345248
|
0.00003
|
|
NM_004333.6(BRAF):c.622A>G (p.Ile208Val)
|
rs727504571
|
0.00003
|
|
NM_004360.5(CDH1):c.1161C>T (p.Asn387=)
|
rs111266450
|
0.00003
|
|
NM_004360.5(CDH1):c.1225T>C (p.Trp409Arg)
|
rs587778176
|
0.00003
|
|
NM_004360.5(CDH1):c.1360G>A (p.Val454Ile)
|
rs587780112
|
0.00003
|
|
NM_004360.5(CDH1):c.1417G>A (p.Val473Ile)
|
rs36087757
|
0.00003
|
|
NM_004360.5(CDH1):c.160A>G (p.Arg54Gly)
|
rs587781329
|
0.00003
|
|
NM_004360.5(CDH1):c.184G>A (p.Gly62Ser)
|
rs587781898
|
0.00003
|
|
NM_004360.5(CDH1):c.2017C>A (p.Gln673Lys)
|
rs587781701
|
0.00003
|
|
NM_004360.5(CDH1):c.2052C>T (p.Ser684=)
|
rs764379691
|
0.00003
|
|
NM_004360.5(CDH1):c.2204C>T (p.Ala735Val)
|
rs587782464
|
0.00003
|
|
NM_004360.5(CDH1):c.304G>A (p.Ala102Thr)
|
rs368492235
|
0.00003
|
|
NM_004360.5(CDH1):c.499G>A (p.Glu167Lys)
|
rs769076258
|
0.00003
|
|
NM_004360.5(CDH1):c.671G>A (p.Arg224His)
|
rs201511530
|
0.00003
|
|
NM_004360.5(CDH1):c.688-4T>C
|
rs781633588
|
0.00003
|
|
NM_004360.5(CDH1):c.759C>T (p.Thr253=)
|
rs372934565
|
0.00003
|
|
NM_004360.5(CDH1):c.832+17G>C
|
rs373179391
|
0.00003
|
|
NM_004360.5(CDH1):c.833-3C>T
|
rs587782839
|
0.00003
|
|
NM_004369.4(COL6A3):c.1785C>T (p.Ile595=)
|
rs114278376
|
0.00003
|
|
NM_004369.4(COL6A3):c.2497+9C>A
|
rs774198344
|
0.00003
|
|
NM_004369.4(COL6A3):c.438C>T (p.Ile146=)
|
rs781449958
|
0.00003
|
|
NM_004369.4(COL6A3):c.5019C>T (p.Gly1673=)
|
rs140516220
|
0.00003
|
|
NM_004369.4(COL6A3):c.6132G>T (p.Gly2044=)
|
rs762950440
|
0.00003
|
|
NM_004369.4(COL6A3):c.7660G>A (p.Ala2554Thr)
|
rs786205870
|
0.00003
|
|
NM_004369.4(COL6A3):c.9329-33C>T
|
rs398124137
|
0.00003
|
|
NM_004370.6(COL12A1):c.3383G>A (p.Arg1128Lys)
|
rs373637483
|
0.00003
|
|
NM_004370.6(COL12A1):c.3570G>A (p.Met1190Ile)
|
rs536615203
|
0.00003
|
|
NM_004370.6(COL12A1):c.4196G>A (p.Arg1399His)
|
rs200125060
|
0.00003
|
|
NM_004370.6(COL12A1):c.4616C>T (p.Thr1539Met)
|
rs373216375
|
0.00003
|
|
NM_004380.3(CREBBP):c.4948G>A (p.Val1650Ile)
|
rs776549587
|
0.00003
|
|
NM_004380.3(CREBBP):c.5740G>A (p.Val1914Met)
|
rs760771706
|
0.00003
|
|
NM_004380.3(CREBBP):c.6006G>T (p.Val2002=)
|
rs768100377
|
0.00003
|
|
NM_004380.3(CREBBP):c.6516C>T (p.Asn2172=)
|
rs763852812
|
0.00003
|
|
NM_004387.4(NKX2-5):c.809G>A (p.Cys270Tyr)
|
rs587782931
|
0.00003
|
|
NM_004415.4(DSP):c.1103T>C (p.Ile368Thr)
|
rs141163578
|
0.00003
|
|
NM_004415.4(DSP):c.1324T>G (p.Ser442Ala)
|
rs755492444
|
0.00003
|
|
NM_004415.4(DSP):c.1743C>T (p.Ala581=)
|
rs139095230
|
0.00003
|
|
NM_004415.4(DSP):c.1840G>A (p.Asp614Asn)
|
rs764951792
|
0.00003
|
|
NM_004415.4(DSP):c.2345A>G (p.Asp782Gly)
|
rs557966264
|
0.00003
|
|
NM_004415.4(DSP):c.2566T>C (p.Phe856Leu)
|
rs779253041
|
0.00003
|
|
NM_004415.4(DSP):c.3551G>A (p.Arg1184Gln)
|
rs147909031
|
0.00003
|
|
NM_004415.4(DSP):c.4081A>C (p.Ser1361Arg)
|
rs747326519
|
0.00003
|
|
NM_004415.4(DSP):c.4105G>A (p.Glu1369Lys)
|
rs141805096
|
0.00003
|
|
NM_004415.4(DSP):c.4373G>A (p.Arg1458Gln)
|
rs370063434
|
0.00003
|
|
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu)
|
rs186842903
|
0.00003
|
|
NM_004415.4(DSP):c.55C>A (p.Arg19Ser)
|
rs777340009
|
0.00003
|
|
NM_004415.4(DSP):c.6187C>G (p.Arg2063Gly)
|
rs374090050
|
0.00003
|
|
NM_004415.4(DSP):c.6935T>C (p.Val2312Ala)
|
rs886061748
|
0.00003
|
|
NM_004415.4(DSP):c.7039A>G (p.Ile2347Val)
|
rs768837509
|
0.00003
|
|
NM_004415.4(DSP):c.7915C>T (p.Arg2639Trp)
|
rs771553674
|
0.00003
|
|
NM_004415.4(DSP):c.8401C>G (p.Arg2801Gly)
|
rs760215987
|
0.00003
|
|
NM_004415.4(DSP):c.997A>G (p.Ser333Gly)
|
rs773685575
|
0.00003
|
|
NM_004447.6(EPS8):c.1230A>C (p.Gly410=)
|
rs184886917
|
0.00003
|
|
NM_004453.4(ETFDH):c.142A>G (p.Ile48Val)
|
rs201823591
|
0.00003
|
|
NM_004519.4(KCNQ3):c.2079G>A (p.Pro693=)
|
rs145204452
|
0.00003
|
|
NM_004523.4(KIF11):c.2106G>T (p.Lys702Asn)
|
rs189734472
|
0.00003
|
|
NM_004525.3(LRP2):c.13002C>T (p.Cys4334=)
|
rs774133574
|
0.00003
|
|
NM_004553.6(NDUFS6):c.262G>A (p.Asp88Asn)
|
rs747442701
|
0.00003
|
|
NM_004560.4(ROR2):c.2080T>C (p.Cys694Arg)
|
rs142386992
|
0.00003
|
|
NM_004560.4(ROR2):c.51C>A (p.Ala17=)
|
rs886043361
|
0.00003
|
|
NM_004565.3(PEX14):c.807C>T (p.Asn269=)
|
rs757658916
|
0.00003
|
|
NM_004606.5(TAF1):c.4948T>C (p.Leu1650=)
|
rs779320845
|
0.00003
|
|
NM_004646.4(NPHS1):c.1647G>C (p.Thr549=)
|
rs371484897
|
0.00003
|
|
NM_004655.4(AXIN2):c.1635G>A (p.Gly545=)
|
rs778710067
|
0.00003
|
|
NM_004655.4(AXIN2):c.2196G>A (p.Thr732=)
|
rs878854725
|
0.00003
|
|
NM_004655.4(AXIN2):c.2405+4A>G
|
rs377423720
|
0.00003
|
|
NM_004656.4(BAP1):c.1219G>A (p.Asp407Asn)
|
rs765347562
|
0.00003
|
|
NM_004656.4(BAP1):c.1291G>A (p.Gly431Ser)
|
rs915913191
|
0.00003
|
|
NM_004656.4(BAP1):c.1339G>A (p.Val447Ile)
|
rs762654322
|
0.00003
|
|
NM_004656.4(BAP1):c.2175G>A (p.Lys725=)
|
rs760537008
|
0.00003
|
|
NM_004744.5(LRAT):c.300C>T (p.Gly100=)
|
rs770608706
|
0.00003
|
|
NM_004817.4(TJP2):c.2457A>G (p.Gln819=)
|
rs988720358
|
0.00003
|
|
NM_004817.4(TJP2):c.3405G>A (p.Thr1135=)
|
rs771190188
|
0.00003
|
|
NM_004820.5(CYP7B1):c.1323G>A (p.Pro441=)
|
rs201281307
|
0.00003
|
|
NM_004937.3(CTNS):c.621C>T (p.Phe207=)
|
rs749428707
|
0.00003
|
|
NM_004958.4(MTOR):c.1855C>T (p.Arg619Cys)
|
rs199712134
|
0.00003
|
|
NM_004984.4(KIF5A):c.425A>G (p.Lys142Arg)
|
rs758987045
|
0.00003
|
|
NM_004984.4(KIF5A):c.750C>T (p.Asp250=)
|
rs375693647
|
0.00003
|
|
NM_005045.4(RELN):c.6079G>A (p.Val2027Ile)
|
rs753782715
|
0.00003
|
|
NM_005045.4(RELN):c.850G>A (p.Val284Met)
|
rs149397714
|
0.00003
|
|
NM_005045.4(RELN):c.8624C>T (p.Pro2875Leu)
|
rs761738403
|
0.00003
|
|
NM_005138.3(SCO2):c.116C>T (p.Ser39Leu)
|
rs767634441
|
0.00003
|
|
NM_005198.5(CHKB):c.927+10C>G
|
rs549171476
|
0.00003
|
|
NM_005199.5(CHRNG):c.330G>A (p.Pro110=)
|
rs149931943
|
0.00003
|
|
NM_005228.5(EGFR):c.345T>A (p.Asn115Lys)
|
rs773596817
|
0.00003
|
|
NM_005249.5(FOXG1):c.1278G>A (p.Met426Ile)
|
rs747138265
|
0.00003
|
|
NM_005267.5(GJA8):c.183C>T (p.Cys61=)
|
rs782213276
|
0.00003
|
|
NM_005343.4(HRAS):c.412G>A (p.Gly138Ser)
|
rs397517142
|
0.00003
|
|
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met)
|
rs372316981
|
0.00003
|
|
NM_005359.6(SMAD4):c.956-3T>C
|
rs748283001
|
0.00003
|
|
NM_005422.4(TECTA):c.3493G>A (p.Val1165Met)
|
rs373132598
|
0.00003
|
|
NM_005422.4(TECTA):c.811G>C (p.Glu271Gln)
|
rs555093382
|
0.00003
|
|
NM_005461.5(MAFB):c.294G>C (p.Glu98Asp)
|
rs374174345
|
0.00003
|
|
NM_005476.7(GNE):c.1907C>T (p.Ala636Val)
|
rs756488394
|
0.00003
|
|
NM_005477.3(HCN4):c.2830G>A (p.Ala944Thr)
|
rs777648103
|
0.00003
|
|
NM_005502.4(ABCA1):c.302+17G>T
|
rs367919230
|
0.00003
|
|
NM_005502.4(ABCA1):c.725C>G (p.Thr242Arg)
|
rs775987152
|
0.00003
|
|
NM_005529.7(HSPG2):c.2520C>T (p.Asp840=)
|
rs544565016
|
0.00003
|
|
NM_005529.7(HSPG2):c.5115C>G (p.Pro1705=)
|
rs370558075
|
0.00003
|
|
NM_005534.4(IFNGR2):c.115C>T (p.Arg39Cys)
|
rs572786148
|
0.00003
|
|
NM_005546.4(ITK):c.1563G>A (p.Pro521=)
|
rs767821181
|
0.00003
|
|
NM_005559.4(LAMA1):c.126C>T (p.Gly42=)
|
rs540825771
|
0.00003
|
|
NM_005591.4(MRE11):c.305G>T (p.Gly102Val)
|
rs199736271
|
0.00003
|
|
NM_005591.4(MRE11):c.534A>G (p.Leu178=)
|
rs374635285
|
0.00003
|
|
NM_005609.4(PYGM):c.2412G>A (p.Arg804=)
|
rs199927544
|
0.00003
|
|
NM_005609.4(PYGM):c.780C>T (p.Val260=)
|
rs754415422
|
0.00003
|
|
NM_005629.4(SLC6A8):c.1285C>G (p.Leu429Val)
|
rs782551106
|
0.00003
|
|
NM_005629.4(SLC6A8):c.1601T>C (p.Ile534Thr)
|
rs797045971
|
0.00003
|
|
NM_005633.4(SOS1):c.3802G>A (p.Gly1268Ser)
|
rs730881051
|
0.00003
|
|
NM_005726.6(TSFM):c.816C>T (p.Asp272=)
|
rs183575246
|
0.00003
|
|
NM_005732.4(RAD50):c.39G>A (p.Arg13=)
|
rs779005784
|
0.00003
|
|
NM_005751.5(AKAP9):c.1685A>G (p.His562Arg)
|
rs145033147
|
0.00003
|
|
NM_005751.5(AKAP9):c.9830T>C (p.Ile3277Thr)
|
rs144021475
|
0.00003
|
|
NM_005901.6(SMAD2):c.784+7T>A
|
rs1429670443
|
0.00003
|
|
NM_005902.4(SMAD3):c.1070A>G (p.Asn357Ser)
|
rs140880290
|
0.00003
|
|
NM_005902.4(SMAD3):c.1186A>G (p.Ile396Val)
|
rs1317532064
|
0.00003
|
|
NM_005902.4(SMAD3):c.533-13_533-10del
|
rs752716057
|
0.00003
|
|
NM_005902.4(SMAD3):c.981C>G (p.His327Gln)
|
rs780274581
|
0.00003
|
|
NM_005982.4(SIX1):c.191G>A (p.Arg64His)
|
rs1051653507
|
0.00003
|
|
NM_006005.3(WFS1):c.1263C>T (p.Ile421=)
|
rs748103155
|
0.00003
|
|
NM_006005.3(WFS1):c.143C>T (p.Ala48Val)
|
rs397517195
|
0.00003
|
|
NM_006005.3(WFS1):c.1769C>T (p.Thr590Met)
|
rs760280308
|
0.00003
|
|
NM_006005.3(WFS1):c.817G>A (p.Glu273Lys)
|
rs142428158
|
0.00003
|
|
NM_006005.3(WFS1):c.991T>A (p.Phe331Ile)
|
rs144888979
|
0.00003
|
|
NM_006015.6(ARID1A):c.3524C>T (p.Pro1175Leu)
|
rs145886877
|
0.00003
|
|
NM_006015.6(ARID1A):c.5849G>A (p.Arg1950Gln)
|
rs759215669
|
0.00003
|
|
NM_006031.6(PCNT):c.1032+6C>T
|
rs367920438
|
0.00003
|
|
NM_006031.6(PCNT):c.1743C>T (p.Leu581=)
|
rs375581809
|
0.00003
|
|
NM_006031.6(PCNT):c.2154+8G>A
|
rs778407564
|
0.00003
|
|
NM_006031.6(PCNT):c.3469G>C (p.Ala1157Pro)
|
rs778900170
|
0.00003
|
|
NM_006031.6(PCNT):c.3571C>T (p.Leu1191=)
|
rs370240856
|
0.00003
|
|
NM_006059.4(LAMC3):c.4348C>T (p.Arg1450Cys)
|
rs201785610
|
0.00003
|
|
NM_006059.4(LAMC3):c.4477+3A>G
|
rs202112145
|
0.00003
|
|
NM_006073.4(TRDN):c.1754G>A (p.Arg585Gln)
|
rs199986608
|
0.00003
|
|
NM_006073.4(TRDN):c.592A>G (p.Thr198Ala)
|
rs952211002
|
0.00003
|
|
NM_006096.4(NDRG1):c.42G>A (p.Lys14=)
|
rs753261868
|
0.00003
|
|
NM_006204.4(PDE6C):c.1266C>T (p.Thr422=)
|
rs530593118
|
0.00003
|
|
NM_006206.6(PDGFRA):c.1891C>T (p.Pro631Ser)
|
rs199902153
|
0.00003
|
|
NM_006231.4(POLE):c.-47G>T
|
rs1014146082
|
0.00003
|
|
NM_006231.4(POLE):c.1588G>A (p.Asp530Asn)
|
rs753660907
|
0.00003
|
|
NM_006231.4(POLE):c.2016G>A (p.Arg672=)
|
rs991583405
|
0.00003
|
|
NM_006231.4(POLE):c.2027-12C>G
|
rs767811987
|
0.00003
|
|
NM_006231.4(POLE):c.2333A>C (p.Lys778Thr)
|
rs868832791
|
0.00003
|
|
NM_006231.4(POLE):c.3582+5C>T
|
rs775661457
|
0.00003
|
|
NM_006231.4(POLE):c.4050C>T (p.Leu1350=)
|
rs764888601
|
0.00003
|
|
NM_006231.4(POLE):c.5313G>A (p.Thr1771=)
|
rs201803493
|
0.00003
|
|
NM_006231.4(POLE):c.6408C>T (p.Gly2136=)
|
rs1057524549
|
0.00003
|
|
NM_006245.4(PPP2R5D):c.188C>T (p.Thr63Met)
|
rs370244516
|
0.00003
|
|
NM_006245.4(PPP2R5D):c.327G>A (p.Ser109=)
|
rs573662782
|
0.00003
|
|
NM_006265.3(RAD21):c.1782C>T (p.Ala594=)
|
rs61737172
|
0.00003
|
|
NM_006361.6(HOXB13):c.122C>T (p.Thr41Met)
|
rs199799743
|
0.00003
|
|
NM_006371.5(CRTAP):c.376C>T (p.Leu126=)
|
rs756961672
|
0.00003
|
|
NM_006415.4(SPTLC1):c.640A>G (p.Met214Val)
|
rs781435924
|
0.00003
|
|
NM_006420.3(ARFGEF2):c.5238C>T (p.Asp1746=)
|
rs371687802
|
0.00003
|
|
NM_006420.3(ARFGEF2):c.907+9C>T
|
rs538199862
|
0.00003
|
|
NM_006493.4(CLN5):c.420A>G (p.Gln140=)
|
rs753732321
|
0.00003
|
|
NM_006514.4(SCN10A):c.2026G>A (p.Val676Met)
|
rs576503650
|
0.00003
|
|
NM_006514.4(SCN10A):c.232C>T (p.Pro78Ser)
|
rs753292241
|
0.00003
|
|
NM_006514.4(SCN10A):c.3394A>C (p.Lys1132Gln)
|
rs756848600
|
0.00003
|
|
NM_006514.4(SCN10A):c.4878G>A (p.Met1626Ile)
|
rs371337228
|
0.00003
|
|
NM_006514.4(SCN10A):c.5144A>C (p.Asn1715Thr)
|
rs777258179
|
0.00003
|
|
NM_006514.4(SCN10A):c.5365G>A (p.Asp1789Asn)
|
rs375735101
|
0.00003
|
|
NM_006514.4(SCN10A):c.5694del (p.Ala1899fs)
|
rs747321219
|
0.00003
|
|
NM_006516.4(SLC2A1):c.313G>A (p.Val105Met)
|
rs577667739
|
0.00003
|
|
NM_006516.4(SLC2A1):c.652C>T (p.Arg218Cys)
|
rs147249343
|
0.00003
|
|
NM_006662.3(SRCAP):c.1545A>G (p.Glu515=)
|
rs770648545
|
0.00003
|
|
NM_006662.3(SRCAP):c.4588A>G (p.Thr1530Ala)
|
rs181190579
|
0.00003
|
|
NM_006662.3(SRCAP):c.8989A>G (p.Thr2997Ala)
|
rs138111804
|
0.00003
|
|
NM_006662.3(SRCAP):c.9633C>T (p.Ser3211=)
|
rs78465857
|
0.00003
|
|
NM_006757.4(TNNT3):c.667C>T (p.Arg223Cys)
|
rs367658497
|
0.00003
|
|
NM_006766.5(KAT6A):c.4150G>A (p.Val1384Met)
|
rs752818339
|
0.00003
|
|
NM_006766.5(KAT6A):c.4222G>A (p.Glu1408Lys)
|
rs771962304
|
0.00003
|
|
NM_006766.5(KAT6A):c.502C>T (p.Arg168Trp)
|
rs369777293
|
0.00003
|
|
NM_006766.5(KAT6A):c.5339A>G (p.Tyr1780Cys)
|
rs61753681
|
0.00003
|
|
NM_006790.3(MYOT):c.817-11T>C
|
rs377759571
|
0.00003
|
|
NM_006892.4(DNMT3B):c.102G>A (p.Ser34=)
|
rs564154904
|
0.00003
|
|
NM_006892.4(DNMT3B):c.684C>T (p.Leu228=)
|
rs373811098
|
0.00003
|
|
NM_006899.5(IDH3B):c.1072-4G>A
|
rs556473702
|
0.00003
|
|
NM_006899.5(IDH3B):c.981G>A (p.Leu327=)
|
rs776399707
|
0.00003
|
|
NM_006922.4(SCN3A):c.1505G>A (p.Arg502Gln)
|
rs747726149
|
0.00003
|
|
NM_006922.4(SCN3A):c.1608C>T (p.Ser536=)
|
rs376381280
|
0.00003
|
|
NM_006922.4(SCN3A):c.3177A>G (p.Lys1059=)
|
rs370141420
|
0.00003
|
|
NM_006922.4(SCN3A):c.3744C>G (p.Thr1248=)
|
rs761584493
|
0.00003
|
|
NM_006939.4(SOS2):c.1264G>A (p.Glu422Lys)
|
rs375244948
|
0.00003
|
|
NM_006939.4(SOS2):c.2978A>T (p.Asn993Ile)
|
rs776000121
|
0.00003
|
|
NM_006941.4(SOX10):c.131C>G (p.Ala44Gly)
|
rs747377284
|
0.00003
|
|
NM_006946.4(SPTBN2):c.1160G>A (p.Arg387His)
|
rs772590586
|
0.00003
|
|
NM_006946.4(SPTBN2):c.5736C>G (p.Phe1912Leu)
|
rs202247290
|
0.00003
|
|
NM_006946.4(SPTBN2):c.5826G>A (p.Ala1942=)
|
rs373276784
|
0.00003
|
|
NM_006949.4(STXBP2):c.1362G>A (p.Ser454=)
|
rs980486322
|
0.00003
|
|
NM_006949.4(STXBP2):c.1620C>T (p.Gly540=)
|
rs374131788
|
0.00003
|
|
NM_006949.4(STXBP2):c.321C>T (p.Thr107=)
|
rs886054703
|
0.00003
|
|
NM_006996.3(SLC19A2):c.-12C>G
|
rs772886076
|
0.00003
|
|
NM_007055.4(POLR3A):c.3697C>A (p.Arg1233=)
|
rs576629157
|
0.00003
|
|
NM_007074.4(CORO1A):c.451+7C>T
|
rs761205413
|
0.00003
|
|
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val)
|
rs372331627
|
0.00003
|
|
NM_007078.3(LDB3):c.398C>T (p.Pro133Leu)
|
rs200239096
|
0.00003
|
|
NM_007078.3(LDB3):c.897-10G>A
|
rs77304928
|
0.00003
|
|
NM_007118.4(TRIO):c.4146G>A (p.Met1382Ile)
|
rs372498676
|
0.00003
|
|
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile)
|
rs587780167
|
0.00003
|
|
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys)
|
rs587780171
|
0.00003
|
|
NM_007194.4(CHEK2):c.1526C>T (p.Pro509Leu)
|
rs587782541
|
0.00003
|
|
NM_007215.4(POLG2):c.307G>A (p.Gly103Ser)
|
rs200118378
|
0.00003
|
|
NM_007254.4(PNKP):c.1302C>T (p.Tyr434=)
|
rs747244348
|
0.00003
|
|
NM_007272.3(CTRC):c.174G>A (p.Thr58=)
|
rs746721892
|
0.00003
|
|
NM_007272.3(CTRC):c.485G>A (p.Arg162His)
|
rs775404479
|
0.00003
|
|
NM_007294.4(BRCA1):c.1460T>G (p.Val487Gly)
|
rs748812609
|
0.00003
|
|
NM_007294.4(BRCA1):c.1573G>A (p.Val525Ile)
|
rs80357273
|
0.00003
|
|
NM_007294.4(BRCA1):c.1881C>G (p.Val627=)
|
rs80356838
|
0.00003
|
|
NM_007294.4(BRCA1):c.2048A>G (p.Lys683Arg)
|
rs1060502357
|
0.00003
|
|
NM_007294.4(BRCA1):c.2108C>T (p.Thr703Ile)
|
rs1302055573
|
0.00003
|
|
NM_007294.4(BRCA1):c.212+21G>A
|
rs80358147
|
0.00003
|
|
NM_007294.4(BRCA1):c.2123C>A (p.Ser708Tyr)
|
rs80357182
|
0.00003
|
|
NM_007294.4(BRCA1):c.2299A>G (p.Ser767Gly)
|
rs80357194
|
0.00003
|
|
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg)
|
rs80357108
|
0.00003
|
|
NM_007294.4(BRCA1):c.2500G>C (p.Gly834Arg)
|
rs786202215
|
0.00003
|
|
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile)
|
rs80357127
|
0.00003
|
|
NM_007294.4(BRCA1):c.2758G>T (p.Val920Leu)
|
rs80357361
|
0.00003
|
|
NM_007294.4(BRCA1):c.3355A>T (p.Thr1119Ser)
|
rs80356949
|
0.00003
|
|
NM_007294.4(BRCA1):c.3362A>G (p.Asn1121Ser)
|
rs80356919
|
0.00003
|
|
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys)
|
rs80357413
|
0.00003
|
|
NM_007294.4(BRCA1):c.398G>A (p.Arg133His)
|
rs80357357
|
0.00003
|
|
NM_007294.4(BRCA1):c.4096+30C>T
|
rs369055904
|
0.00003
|
|
NM_007294.4(BRCA1):c.4251G>A (p.Val1417=)
|
rs777057839
|
0.00003
|
|
NM_007294.4(BRCA1):c.4262A>G (p.His1421Arg)
|
rs80357079
|
0.00003
|
|
NM_007294.4(BRCA1):c.457A>C (p.Ser153Arg)
|
rs28897674
|
0.00003
|
|
NM_007294.4(BRCA1):c.5075-6C>A
|
rs397507240
|
0.00003
|
|
NM_007294.4(BRCA1):c.5152+15A>G
|
rs750905289
|
0.00003
|
|
NM_007294.4(BRCA1):c.5189A>G (p.Asn1730Ser)
|
rs80357171
|
0.00003
|
|
NM_007294.4(BRCA1):c.5310G>A (p.Gly1770=)
|
rs273901761
|
0.00003
|
|
NM_007294.4(BRCA1):c.5333-8C>T
|
rs80358084
|
0.00003
|
|
NM_007294.4(BRCA1):c.5347A>C (p.Met1783Leu)
|
rs80357012
|
0.00003
|
|
NM_007294.4(BRCA1):c.594-2A>C
|
rs80358033
|
0.00003
|
|
NM_007294.4(BRCA1):c.612G>C (p.Leu204Phe)
|
rs80357394
|
0.00003
|
|
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly)
|
rs55680408
|
0.00003
|
|
NM_007294.4(BRCA1):c.671-10A>G
|
rs398122707
|
0.00003
|
|
NM_007294.4(BRCA1):c.81-6T>C
|
rs80358179
|
0.00003
|
|
NM_007294.4(BRCA1):c.811G>A (p.Val271Met)
|
rs80357244
|
0.00003
|
|
NM_007315.4(STAT1):c.1431G>A (p.Leu477=)
|
rs1384090178
|
0.00003
|
|
NM_007315.4(STAT1):c.2059+5G>A
|
rs757528949
|
0.00003
|
|
NM_007327.4(GRIN1):c.1045G>T (p.Ala349Ser)
|
rs148008303
|
0.00003
|
|
NM_007327.4(GRIN1):c.2589+6G>T
|
rs200395927
|
0.00003
|
|
NM_007347.5(AP4E1):c.2416G>A (p.Glu806Lys)
|
rs756384880
|
0.00003
|
|
NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe)
|
rs536611911
|
0.00003
|
|
NM_012092.4(ICOS):c.42C>A (p.Arg14=)
|
rs765158675
|
0.00003
|
|
NM_012092.4(ICOS):c.510A>G (p.Ser170=)
|
rs148435889
|
0.00003
|
|
NM_012144.4(DNAI1):c.1109T>C (p.Leu370Pro)
|
rs201677978
|
0.00003
|
|
NM_012144.4(DNAI1):c.1599C>T (p.Leu533=)
|
rs150785761
|
0.00003
|
|
NM_012208.4(HARS2):c.1515G>T (p.Glu505Asp)
|
rs370053420
|
0.00003
|
|
NM_012210.4(TRIM32):c.-5G>A
|
rs774975492
|
0.00003
|
|
NM_012213.3(MLYCD):c.1344C>T (p.Cys448=)
|
rs534173407
|
0.00003
|
|
NM_012213.3(MLYCD):c.505C>T (p.Leu169=)
|
rs771885443
|
0.00003
|
|
NM_012213.3(MLYCD):c.762C>T (p.His254=)
|
rs773274796
|
0.00003
|
|
NM_012301.4(MAGI2):c.1713C>T (p.Ser571=)
|
rs587780386
|
0.00003
|
|
NM_012338.4(TSPAN12):c.440C>A (p.Thr147Asn)
|
rs759104377
|
0.00003
|
|
NM_012434.5(SLC17A5):c.804A>G (p.Ser268=)
|
rs750559102
|
0.00003
|
|
NM_012469.4(PRPF6):c.772-7C>T
|
rs558787024
|
0.00003
|
|
NM_012470.4(TNPO3):c.2326A>G (p.Ile776Val)
|
rs368873021
|
0.00003
|
|
NM_012472.6(DNAAF11):c.408A>G (p.Val136=)
|
rs762081490
|
0.00003
|
|
NM_013382.7(POMT2):c.1743G>A (p.Gly581=)
|
rs755254043
|
0.00003
|
|
NM_014049.5(ACAD9):c.634-3C>T
|
rs187282664
|
0.00003
|
|
NM_014049.5(ACAD9):c.662A>G (p.Asn221Ser)
|
rs761452056
|
0.00003
|
|
NM_014053.4(FLVCR1):c.346C>T (p.Leu116=)
|
rs150645228
|
0.00003
|
|
NM_014140.4(SMARCAL1):c.1407C>T (p.Ile469=)
|
rs750621192
|
0.00003
|
|
NM_014140.4(SMARCAL1):c.1414G>A (p.Ala472Thr)
|
rs571392819
|
0.00003
|
|
NM_014140.4(SMARCAL1):c.1761C>T (p.Pro587=)
|
rs781340148
|
0.00003
|
|
NM_014140.4(SMARCAL1):c.888G>A (p.Thr296=)
|
rs140707035
|
0.00003
|
|
NM_014141.6(CNTNAP2):c.1581C>T (p.Asp527=)
|
rs774328147
|
0.00003
|
|
NM_014141.6(CNTNAP2):c.180C>T (p.Pro60=)
|
rs753396304
|
0.00003
|
|
NM_014141.6(CNTNAP2):c.2241G>A (p.Ala747=)
|
rs758102050
|
0.00003
|
|
NM_014141.6(CNTNAP2):c.2460C>T (p.Ser820=)
|
rs144496909
|
0.00003
|
|
NM_014141.6(CNTNAP2):c.3797-5G>A
|
rs745770134
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.2835G>A (p.Pro945=)
|
rs768390657
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.3303C>T (p.Asn1101=)
|
rs766731589
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.3607C>T (p.Arg1203Trp)
|
rs144078893
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.891+9G>A
|
rs749508251
|
0.00003
|
|
NM_014249.4(NR2E3):c.245+9G>A
|
rs538864090
|
0.00003
|
|
NM_014336.5(AIPL1):c.785-11G>A
|
rs199772097
|
0.00003
|
|
NM_014339.7(IL17RA):c.1728C>T (p.Asp576=)
|
rs767714232
|
0.00003
|
|
NM_014339.7(IL17RA):c.1986G>A (p.Pro662=)
|
rs990617336
|
0.00003
|
|
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser)
|
rs375898103
|
0.00003
|
|
NM_014363.6(SACS):c.10205A>G (p.Asp3402Gly)
|
rs543563990
|
0.00003
|
|
NM_014363.6(SACS):c.10255C>T (p.Arg3419Cys)
|
rs765758197
|
0.00003
|
|
NM_014363.6(SACS):c.10787C>T (p.Ser3596Phe)
|
rs755172172
|
0.00003
|
|
NM_014363.6(SACS):c.11309C>G (p.Ala3770Gly)
|
rs1170997950
|
0.00003
|
|
NM_014363.6(SACS):c.12665G>A (p.Gly4222Glu)
|
rs774349752
|
0.00003
|
|
NM_014363.6(SACS):c.13621T>A (p.Leu4541Met)
|
rs769260277
|
0.00003
|
|
NM_014363.6(SACS):c.1906C>T (p.Arg636Trp)
|
rs201752905
|
0.00003
|
|
NM_014363.6(SACS):c.2853C>A (p.His951Gln)
|
rs200644511
|
0.00003
|
|
NM_014363.6(SACS):c.5169A>G (p.Ala1723=)
|
rs200699984
|
0.00003
|
|
NM_014363.6(SACS):c.5842G>A (p.Asp1948Asn)
|
rs772515267
|
0.00003
|
|
NM_014363.6(SACS):c.7101G>A (p.Ala2367=)
|
rs764702321
|
0.00003
|
|
NM_014363.6(SACS):c.7497C>T (p.Val2499=)
|
rs774558627
|
0.00003
|
|
NM_014363.6(SACS):c.8142G>A (p.Ser2714=)
|
rs530250252
|
0.00003
|
|
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val)
|
rs760976439
|
0.00003
|
|
NM_014384.3(ACAD8):c.1233C>T (p.Ser411=)
|
rs146145710
|
0.00003
|
|
NM_014491.4(FOXP2):c.2003+10G>C
|
rs199581885
|
0.00003
|
|
NM_014714.4(IFT140):c.1306G>T (p.Val436Phe)
|
rs764912104
|
0.00003
|
|
NM_014714.4(IFT140):c.2650C>T (p.Arg884Trp)
|
rs554196965
|
0.00003
|
|
NM_014714.4(IFT140):c.2692G>A (p.Val898Met)
|
rs369457143
|
0.00003
|
|
NM_014714.4(IFT140):c.2781G>A (p.Ser927=)
|
rs773225207
|
0.00003
|
|
NM_014714.4(IFT140):c.657G>A (p.Glu219=)
|
rs757028149
|
0.00003
|
|
NM_014727.3(KMT2B):c.1444C>T (p.Arg482Trp)
|
rs1420662989
|
0.00003
|
|
NM_014795.4(ZEB2):c.167T>C (p.Leu56Pro)
|
rs61750440
|
0.00003
|
|
NM_014795.4(ZEB2):c.2300C>T (p.Thr767Ile)
|
rs755233964
|
0.00003
|
|
NM_014795.4(ZEB2):c.2886+4A>C
|
rs754532627
|
0.00003
|
|
NM_014844.5(TECPR2):c.2967G>A (p.Thr989=)
|
rs1345090533
|
0.00003
|
|
NM_014844.5(TECPR2):c.351T>G (p.Leu117=)
|
rs771585977
|
0.00003
|
|
NM_014844.5(TECPR2):c.999G>A (p.Ser333=)
|
rs369972265
|
0.00003
|
|
NM_014855.3(AP5Z1):c.1455-12C>T
|
rs1038026978
|
0.00003
|
|
NM_014874.4(MFN2):c.119A>G (p.Asn40Ser)
|
rs1354203259
|
0.00003
|
|
NM_014874.4(MFN2):c.2145C>T (p.Ala715=)
|
rs571011689
|
0.00003
|
|
NM_015102.5(NPHP4):c.1408C>T (p.Arg470Trp)
|
rs367686843
|
0.00003
|
|
NM_015102.5(NPHP4):c.2646C>T (p.Asp882=)
|
rs774354969
|
0.00003
|
|
NM_015214.3(DDHD2):c.1009A>C (p.Arg337=)
|
rs778628163
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr)
|
rs973841786
|
0.00003
|
|
NM_015295.3(SMCHD1):c.5126C>T (p.Ser1709Leu)
|
rs151311806
|
0.00003
|
|
NM_015338.6(ASXL1):c.3205G>A (p.Val1069Ile)
|
rs560992020
|
0.00003
|
|
NM_015346.4(ZFYVE26):c.403G>A (p.Val135Met)
|
rs771937001
|
0.00003
|
|
NM_015346.4(ZFYVE26):c.7317C>T (p.Asp2439=)
|
rs147321202
|
0.00003
|
|
NM_015404.4(WHRN):c.1473C>T (p.Phe491=)
|
rs886044241
|
0.00003
|
|
NM_015474.4(SAMHD1):c.990T>C (p.Asp330=)
|
rs756532676
|
0.00003
|
|
NM_015512.5(DNAH1):c.7978G>A (p.Val2660Ile)
|
rs768620121
|
0.00003
|
|
NM_015559.3(SETBP1):c.1388G>A (p.Arg463His)
|
rs781159539
|
0.00003
|
|
NM_015559.3(SETBP1):c.584C>T (p.Thr195Met)
|
rs755852977
|
0.00003
|
|
NM_015559.3(SETBP1):c.62C>T (p.Pro21Leu)
|
rs758194735
|
0.00003
|
|
NM_015570.4(AUTS2):c.2834G>A (p.Arg945Gln)
|
rs756314192
|
0.00003
|
|
NM_015662.3(IFT172):c.357A>G (p.Gln119=)
|
rs749934202
|
0.00003
|
|
NM_015909.4(NBAS):c.6311G>A (p.Arg2104Gln)
|
rs773412024
|
0.00003
|
|
NM_015909.4(NBAS):c.937C>T (p.Arg313Cys)
|
rs571030699
|
0.00003
|
|
NM_015910.7(WDPCP):c.691A>G (p.Ile231Val)
|
rs769180655
|
0.00003
|
|
NM_016203.4(PRKAG2):c.*2C>T
|
rs199559205
|
0.00003
|
|
NM_016203.4(PRKAG2):c.1053G>A (p.Glu351=)
|
rs767902787
|
0.00003
|
|
NM_016203.4(PRKAG2):c.1234-6G>A
|
rs780341115
|
0.00003
|
|
NM_016203.4(PRKAG2):c.1584+8G>A
|
rs762649633
|
0.00003
|
|
NM_016219.5(MAN1B1):c.792C>T (p.Tyr264=)
|
rs777042053
|
0.00003
|
|
NM_016239.4(MYO15A):c.5288G>A (p.Arg1763Gln)
|
rs780165350
|
0.00003
|
|
NM_016239.4(MYO15A):c.7762C>T (p.Arg2588Trp)
|
rs778098806
|
0.00003
|
|
NM_016239.4(MYO15A):c.9913G>A (p.Glu3305Lys)
|
rs535441567
|
0.00003
|
|
NM_016247.4(IMPG2):c.2531G>A (p.Arg844Gln)
|
rs139105788
|
0.00003
|
|
NM_016356.5(DCDC2):c.1359A>G (p.Pro453=)
|
rs374448795
|
0.00003
|
|
NM_017534.6(MYH2):c.2655G>A (p.Thr885=)
|
rs141764966
|
0.00003
|
|
NM_017617.5(NOTCH1):c.1801G>A (p.Glu601Lys)
|
rs749381544
|
0.00003
|
|
NM_017617.5(NOTCH1):c.3510+3G>A
|
rs372739350
|
0.00003
|
|
NM_017617.5(NOTCH1):c.500C>T (p.Pro167Leu)
|
rs370951369
|
0.00003
|
|
NM_017636.4(TRPM4):c.3450C>T (p.Arg1150=)
|
rs763372824
|
0.00003
|
|
NM_017721.5(CC2D1A):c.197-5G>A
|
rs373157979
|
0.00003
|
|
NM_017739.4(POMGNT1):c.698C>T (p.Ser233Phe)
|
rs569061665
|
0.00003
|
|
NM_017755.6(NSUN2):c.2259C>T (p.Asp753=)
|
rs372574598
|
0.00003
|
|
NM_017777.4(MKS1):c.322C>T (p.Arg108Cys)
|
rs201476674
|
0.00003
|
|
NM_017777.4(MKS1):c.813C>T (p.His271=)
|
rs201961765
|
0.00003
|
|
NM_017780.4(CHD7):c.2614-7G>T
|
rs762399977
|
0.00003
|
|
NM_017780.4(CHD7):c.6771C>T (p.Pro2257=)
|
rs367615733
|
0.00003
|
|
NM_017780.4(CHD7):c.7170T>G (p.Asp2390Glu)
|
rs199966549
|
0.00003
|
|
NM_017780.4(CHD7):c.7570C>T (p.Leu2524=)
|
rs751931671
|
0.00003
|
|
NM_017849.4(TMEM127):c.281G>A (p.Arg94Gln)
|
rs746831347
|
0.00003
|
|
NM_017882.3(CLN6):c.831C>T (p.Val277=)
|
rs753344266
|
0.00003
|
|
NM_018006.5(TRMU):c.1246G>T (p.Gly416Cys)
|
rs150043707
|
0.00003
|
|
NM_018026.4(PACS1):c.83C>G (p.Ser28Cys)
|
rs763294619
|
0.00003
|
|
NM_018075.5(ANO10):c.1559C>T (p.Ala520Val)
|
rs150026260
|
0.00003
|
|
NM_018136.5(ASPM):c.2173+6C>T
|
rs377501585
|
0.00003
|
|
NM_018136.5(ASPM):c.3390+3A>G
|
rs377110373
|
0.00003
|
|
NM_018136.5(ASPM):c.8821-9A>G
|
rs375911555
|
0.00003
|
|
NM_018136.5(ASPM):c.8986C>T (p.Arg2996Trp)
|
rs772813676
|
0.00003
|
|
NM_018368.4(LMBRD1):c.417G>A (p.Thr139=)
|
rs934259733
|
0.00003
|
|
NM_018699.4(PRDM5):c.1741G>A (p.Ala581Thr)
|
rs759782529
|
0.00003
|
|
NM_018699.4(PRDM5):c.182G>A (p.Arg61His)
|
rs777432357
|
0.00003
|
|
NM_018718.3(CEP41):c.757+11T>C
|
rs1050676312
|
0.00003
|
|
NM_018896.5(CACNA1G):c.305G>A (p.Arg102Gln)
|
rs763813233
|
0.00003
|
|
NM_018941.4(CLN8):c.582G>A (p.Gln194=)
|
rs139824802
|
0.00003
|
|
NM_018979.4(WNK1):c.3935G>A (p.Arg1312His)
|
rs375565845
|
0.00003
|
|
NM_019066.5(MAGEL2):c.1894G>A (p.Ala632Thr)
|
rs777626175
|
0.00003
|
|
NM_020066.5(FMN2):c.3413C>T (p.Ala1138Val)
|
rs199570117
|
0.00003
|
|
NM_020247.5(COQ8A):c.771G>A (p.Glu257=)
|
rs371867831
|
0.00003
|
|
NM_020320.5(RARS2):c.916G>A (p.Asp306Asn)
|
rs781646725
|
0.00003
|
|
NM_020376.4(PNPLA2):c.487-7G>C
|
rs372342635
|
0.00003
|
|
NM_020451.3(SELENON):c.1704G>A (p.Pro568=)
|
rs754350384
|
0.00003
|
|
NM_020461.4(TUBGCP6):c.2155-10T>C
|
rs370415059
|
0.00003
|
|
NM_020461.4(TUBGCP6):c.3538C>T (p.Pro1180Ser)
|
rs775925434
|
0.00003
|
|
NM_020529.3(NFKBIA):c.337-3T>C
|
rs756930611
|
0.00003
|
|
NM_020529.3(NFKBIA):c.547+10C>T
|
rs201614038
|
0.00003
|
|
NM_020686.6(ABAT):c.1123-15C>T
|
rs376574278
|
0.00003
|
|
NM_020686.6(ABAT):c.168+13C>T
|
rs759610129
|
0.00003
|
|
NM_020686.6(ABAT):c.708C>T (p.Ile236=)
|
rs778110660
|
0.00003
|
|
NM_020738.4(KIDINS220):c.1782T>G (p.Pro594=)
|
rs376216731
|
0.00003
|
|
NM_020745.4(AARS2):c.2861C>T (p.Ala954Val)
|
rs747312867
|
0.00003
|
|
NM_020778.5(ALPK3):c.1715C>T (p.Ala572Val)
|
rs373204179
|
0.00003
|
|
NM_020778.5(ALPK3):c.2482G>A (p.Glu828Lys)
|
rs200846317
|
0.00003
|
|
NM_020778.5(ALPK3):c.3940C>T (p.Arg1314Cys)
|
rs147819987
|
0.00003
|
|
NM_020778.5(ALPK3):c.3941G>A (p.Arg1314His)
|
rs746125587
|
0.00003
|
|
NM_020778.5(ALPK3):c.4723+5G>A
|
rs771461497
|
0.00003
|
|
NM_020822.3(KCNT1):c.1110G>A (p.Thr370=)
|
rs140367649
|
0.00003
|
|
NM_020822.3(KCNT1):c.1777G>A (p.Val593Met)
|
rs779590747
|
0.00003
|
|
NM_020822.3(KCNT1):c.2050A>C (p.Thr684Pro)
|
rs756570347
|
0.00003
|
|
NM_020822.3(KCNT1):c.2201A>G (p.Asp734Gly)
|
rs1360863995
|
0.00003
|
|
NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=)
|
rs141695705
|
0.00003
|
|
NM_020822.3(KCNT1):c.3537C>T (p.Tyr1179=)
|
rs149927148
|
0.00003
|
|
NM_020937.4(FANCM):c.1667A>G (p.Asp556Gly)
|
rs148810507
|
0.00003
|
|
NM_020975.6(RET):c.1760-12G>A
|
rs377767392
|
0.00003
|
|
NM_020975.6(RET):c.1878G>A (p.Gln626=)
|
rs147692872
|
0.00003
|
|
NM_020975.6(RET):c.2285-4T>G
|
rs376601566
|
0.00003
|
|
NM_020975.6(RET):c.2298G>A (p.Pro766=)
|
rs140658743
|
0.00003
|
|
NM_020975.6(RET):c.2452G>A (p.Glu818Lys)
|
rs377767420
|
0.00003
|
|
NM_020975.6(RET):c.3149G>A (p.Arg1050Gln)
|
rs200956659
|
0.00003
|
|
NM_020975.6(RET):c.31C>A (p.Leu11Met)
|
rs587780812
|
0.00003
|
|
NM_020975.6(RET):c.539G>A (p.Arg180Gln)
|
rs370736139
|
0.00003
|
|
NM_021076.4(NEFH):c.1347G>C (p.Lys449Asn)
|
rs199932977
|
0.00003
|
|
NM_021076.4(NEFH):c.1684C>G (p.Pro562Ala)
|
rs530872313
|
0.00003
|
|
NM_021625.5(TRPV4):c.1038C>T (p.Tyr346=)
|
rs750086412
|
0.00003
|
|
NM_021625.5(TRPV4):c.114T>A (p.Asn38Lys)
|
rs878853090
|
0.00003
|
|
NM_021625.5(TRPV4):c.1379G>A (p.Arg460Gln)
|
rs202244562
|
0.00003
|
|
NM_021728.4(OTX2):c.270G>T (p.Val90=)
|
rs747916036
|
0.00003
|
|
NM_021930.6(RINT1):c.448A>C (p.Ser150Arg)
|
rs780699445
|
0.00003
|
|
NM_021956.5(GRIK2):c.2487C>T (p.Ala829=)
|
rs370196358
|
0.00003
|
|
NM_021957.4(GYS2):c.627T>A (p.Leu209=)
|
rs767838400
|
0.00003
|
|
NM_022041.4(GAN):c.283-15A>G
|
rs754182168
|
0.00003
|
|
NM_022089.4(ATP13A2):c.1688G>A (p.Arg563Gln)
|
rs541385523
|
0.00003
|
|
NM_022089.4(ATP13A2):c.3501C>T (p.Ala1167=)
|
rs781135190
|
0.00003
|
|
NM_022095.4(ZNF335):c.3670-8A>C
|
rs772015167
|
0.00003
|
|
NM_022098.4(XPNPEP3):c.1188T>C (p.Leu396=)
|
rs146309087
|
0.00003
|
|
NM_022124.6(CDH23):c.1543A>G (p.Ile515Val)
|
rs727504914
|
0.00003
|
|
NM_022124.6(CDH23):c.3924C>T (p.Asp1308=)
|
rs776501112
|
0.00003
|
|
NM_022124.6(CDH23):c.4249C>T (p.Arg1417Trp)
|
rs756231829
|
0.00003
|
|
NM_022124.6(CDH23):c.4620C>T (p.Asn1540=)
|
rs111033490
|
0.00003
|
|
NM_022124.6(CDH23):c.5051G>C (p.Arg1684Pro)
|
rs111033475
|
0.00003
|
|
NM_022124.6(CDH23):c.535G>A (p.Ala179Thr)
|
rs371422466
|
0.00003
|
|
NM_022124.6(CDH23):c.617A>C (p.Asn206Thr)
|
rs528880720
|
0.00003
|
|
NM_022124.6(CDH23):c.7077A>C (p.Thr2359=)
|
rs191154178
|
0.00003
|
|
NM_022124.6(CDH23):c.8775C>T (p.Pro2925=)
|
rs766541944
|
0.00003
|
|
NM_022132.5(MCCC2):c.864G>A (p.Arg288=)
|
rs368236133
|
0.00003
|
|
NM_022168.4(IFIH1):c.2305-2A>G
|
rs199696786
|
0.00003
|
|
NM_022356.4(P3H1):c.2164C>A (p.Gln722Lys)
|
rs771006240
|
0.00003
|
|
NM_022436.3(ABCG5):c.408C>T (p.Asp136=)
|
rs141386201
|
0.00003
|
|
NM_022436.3(ABCG5):c.834G>A (p.Ala278=)
|
rs373182673
|
0.00003
|
|
NM_022437.3(ABCG8):c.1125A>G (p.Glu375=)
|
rs371968769
|
0.00003
|
|
NM_022455.5(NSD1):c.3394G>A (p.Gly1132Arg)
|
rs570278983
|
0.00003
|
|
NM_022455.5(NSD1):c.4328A>G (p.Asn1443Ser)
|
rs141911573
|
0.00003
|
|
NM_022455.5(NSD1):c.4332C>T (p.Gly1444=)
|
rs147235302
|
0.00003
|
|
NM_022455.5(NSD1):c.4858G>A (p.Val1620Ile)
|
rs774169673
|
0.00003
|
|
NM_022455.5(NSD1):c.682C>G (p.Pro228Ala)
|
rs770522999
|
0.00003
|
|
NM_022455.5(NSD1):c.7500G>C (p.Met2500Ile)
|
rs770120153
|
0.00003
|
|
NM_022455.5(NSD1):c.7531G>C (p.Asp2511His)
|
rs575229932
|
0.00003
|
|
NM_022464.5(SIL1):c.930C>T (p.Leu310=)
|
rs147797471
|
0.00003
|
|
NM_022489.4(INF2):c.2155G>A (p.Glu719Lys)
|
rs775500020
|
0.00003
|
|
NM_022489.4(INF2):c.2555G>A (p.Arg852Gln)
|
rs372129830
|
0.00003
|
|
NM_022489.4(INF2):c.2804C>T (p.Ala935Val)
|
rs781494318
|
0.00003
|
|
NM_022489.4(INF2):c.2992G>A (p.Gly998Arg)
|
rs747569209
|
0.00003
|
|
NM_022489.4(INF2):c.3520G>A (p.Glu1174Lys)
|
rs755527335
|
0.00003
|
|
NM_022552.5(DNMT3A):c.2676A>G (p.Ser892=)
|
rs763189481
|
0.00003
|
|
NM_022835.3(PLEKHG2):c.378+7C>T
|
rs368379229
|
0.00003
|
|
NM_024009.3(GJB3):c.589G>A (p.Val197Ile)
|
rs376506263
|
0.00003
|
|
NM_024105.4(ALG12):c.183C>T (p.Pro61=)
|
rs749156618
|
0.00003
|
|
NM_024334.3(TMEM43):c.1112A>G (p.Tyr371Cys)
|
rs752269639
|
0.00003
|
|
NM_024334.3(TMEM43):c.748G>A (p.Gly250Ser)
|
rs371797765
|
0.00003
|
|
NM_024334.3(TMEM43):c.796C>T (p.Arg266Trp)
|
rs139842014
|
0.00003
|
|
NM_024408.4(NOTCH2):c.2388T>A (p.Ile796=)
|
rs138943874
|
0.00003
|
|
NM_024408.4(NOTCH2):c.4005G>A (p.Pro1335=)
|
rs118188023
|
0.00003
|
|
NM_024408.4(NOTCH2):c.6028-4G>A
|
rs372465730
|
0.00003
|
|
NM_024408.4(NOTCH2):c.6307T>A (p.Ser2103Thr)
|
rs779311707
|
0.00003
|
|
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala)
|
rs368299411
|
0.00003
|
|
NM_024422.6(DSC2):c.2250+12G>T
|
rs201039801
|
0.00003
|
|
NM_024422.6(DSC2):c.2624G>A (p.Arg875Gln)
|
rs535014010
|
0.00003
|
|
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala)
|
rs201015785
|
0.00003
|
|
NM_024529.5(CDC73):c.1418-4A>G
|
rs1269877061
|
0.00003
|
|
NM_024577.4(SH3TC2):c.1017C>T (p.Ala339=)
|
rs201779392
|
0.00003
|
|
NM_024596.5(MCPH1):c.297C>T (p.His99=)
|
rs727504012
|
0.00003
|
|
NM_024649.5(BBS1):c.1338C>T (p.Thr446=)
|
rs368302072
|
0.00003
|
|
NM_024675.4(PALB2):c.110G>A (p.Arg37His)
|
rs202194596
|
0.00003
|
|
NM_024675.4(PALB2):c.1189A>T (p.Thr397Ser)
|
rs367578415
|
0.00003
|
|
NM_024675.4(PALB2):c.1756G>A (p.Asp586Asn)
|
rs587781954
|
0.00003
|
|
NM_024675.4(PALB2):c.20A>G (p.Lys7Arg)
|
rs947155109
|
0.00003
|
|
NM_024675.4(PALB2):c.2106A>G (p.Ile702Met)
|
rs730881886
|
0.00003
|
|
NM_024675.4(PALB2):c.2136G>A (p.Ala712=)
|
rs905951607
|
0.00003
|
|
NM_024675.4(PALB2):c.2743G>A (p.Ala915Thr)
|
rs374736398
|
0.00003
|
|
NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr)
|
rs587780214
|
0.00003
|
|
NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr)
|
rs138273800
|
0.00003
|
|
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg)
|
rs142132127
|
0.00003
|
|
NM_024675.4(PALB2):c.3464C>G (p.Ser1155Cys)
|
rs755609496
|
0.00003
|
|
NM_024675.4(PALB2):c.94C>G (p.Leu32Val)
|
rs151316635
|
0.00003
|
|
NM_024685.4(BBS10):c.462G>A (p.Leu154=)
|
rs764687344
|
0.00003
|
|
NM_024753.5(TTC21B):c.2168G>A (p.Arg723Gln)
|
rs151309609
|
0.00003
|
|
NM_024753.5(TTC21B):c.235T>C (p.Tyr79His)
|
rs752147287
|
0.00003
|
|
NM_024753.5(TTC21B):c.2777G>A (p.Arg926Gln)
|
rs747246700
|
0.00003
|
|
NM_024757.5(EHMT1):c.3322G>A (p.Ala1108Thr)
|
rs199780189
|
0.00003
|
|
NM_024757.5(EHMT1):c.86-5G>A
|
rs371370370
|
0.00003
|
|
NM_024915.4(GRHL2):c.987G>A (p.Gln329=)
|
rs200745936
|
0.00003
|
|
NM_025074.7(FRAS1):c.8752+9T>C
|
rs191984935
|
0.00003
|
|
NM_025099.6(CTC1):c.3504C>T (p.Ile1168=)
|
rs760547081
|
0.00003
|
|
NM_025114.4(CEP290):c.6523-6T>C
|
rs794727692
|
0.00003
|
|
NM_025137.4(SPG11):c.4137A>G (p.Gln1379=)
|
rs748617459
|
0.00003
|
|
NM_025215.6(PUS1):c.218G>A (p.Gly73Asp)
|
rs755540245
|
0.00003
|
|
NM_030662.4(MAP2K2):c.581-9C>T
|
rs539611844
|
0.00003
|
|
NM_030665.4(RAI1):c.1744G>A (p.Asp582Asn)
|
rs781255993
|
0.00003
|
|
NM_030665.4(RAI1):c.195G>A (p.Thr65=)
|
rs377342940
|
0.00003
|
|
NM_030665.4(RAI1):c.2544C>T (p.Ala848=)
|
rs777023372
|
0.00003
|
|
NM_030665.4(RAI1):c.2820C>G (p.Ser940Arg)
|
rs141725170
|
0.00003
|
|
NM_030665.4(RAI1):c.386C>G (p.Pro129Arg)
|
rs748915017
|
0.00003
|
|
NM_030665.4(RAI1):c.4355G>A (p.Arg1452Gln)
|
rs368003493
|
0.00003
|
|
NM_030665.4(RAI1):c.5183C>T (p.Thr1728Ile)
|
rs201220981
|
0.00003
|
|
NM_030665.4(RAI1):c.660C>T (p.Ser220=)
|
rs756623054
|
0.00003
|
|
NM_030665.4(RAI1):c.73T>A (p.Ser25Thr)
|
rs891764320
|
0.00003
|
|
NM_030777.4(SLC2A10):c.1596C>T (p.Tyr532=)
|
rs886056727
|
0.00003
|
|
NM_031407.7(HUWE1):c.11996+9C>T
|
rs782772316
|
0.00003
|
|
NM_031433.4(MFRP):c.1461C>A (p.Ile487=)
|
rs202139926
|
0.00003
|
|
NM_031433.4(MFRP):c.1506C>T (p.Ser502=)
|
rs773497972
|
0.00003
|
|
NM_031935.3(HMCN1):c.10592G>A (p.Gly3531Glu)
|
rs752255369
|
0.00003
|
|
NM_032043.3(BRIP1):c.1257G>A (p.Arg419=)
|
rs148429663
|
0.00003
|
|
NM_032043.3(BRIP1):c.1619A>T (p.Gln540Leu)
|
rs4988349
|
0.00003
|
|
NM_032043.3(BRIP1):c.1736G>A (p.Arg579His)
|
rs768224857
|
0.00003
|
|
NM_032043.3(BRIP1):c.2100A>G (p.Leu700=)
|
rs766047812
|
0.00003
|
|
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser)
|
rs571108955
|
0.00003
|
|
NM_032043.3(BRIP1):c.2469G>T (p.Arg823Ser)
|
rs587780239
|
0.00003
|
|
NM_032043.3(BRIP1):c.2492+8G>C
|
rs772953115
|
0.00003
|
|
NM_032043.3(BRIP1):c.2590G>A (p.Val864Ile)
|
rs149529390
|
0.00003
|
|
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu)
|
rs140233356
|
0.00003
|
|
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val)
|
rs200239986
|
0.00003
|
|
NM_032043.3(BRIP1):c.3042T>C (p.Gly1014=)
|
rs188258913
|
0.00003
|
|
NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val)
|
rs761405340
|
0.00003
|
|
NM_032043.3(BRIP1):c.379+4_379+5del
|
rs773332695
|
0.00003
|
|
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr)
|
rs587781860
|
0.00003
|
|
NM_032119.4(ADGRV1):c.10051C>T (p.Leu3351=)
|
rs1445890457
|
0.00003
|
|
NM_032119.4(ADGRV1):c.10570C>A (p.Gln3524Lys)
|
rs766464017
|
0.00003
|
|
NM_032119.4(ADGRV1):c.1094A>G (p.Asp365Gly)
|
rs779719772
|
0.00003
|
|
NM_032119.4(ADGRV1):c.12542C>T (p.Pro4181Leu)
|
rs200957385
|
0.00003
|
|
NM_032119.4(ADGRV1):c.13765G>A (p.Val4589Met)
|
rs375258567
|
0.00003
|
|
NM_032119.4(ADGRV1):c.15059C>A (p.Thr5020Lys)
|
rs753667658
|
0.00003
|
|
NM_032119.4(ADGRV1):c.15698T>C (p.Met5233Thr)
|
rs750968239
|
0.00003
|
|
NM_032119.4(ADGRV1):c.16226G>A (p.Arg5409Gln)
|
rs567881943
|
0.00003
|
|
NM_032119.4(ADGRV1):c.16439G>A (p.Ser5480Asn)
|
rs772117132
|
0.00003
|
|
NM_032119.4(ADGRV1):c.16447T>C (p.Phe5483Leu)
|
rs376863164
|
0.00003
|
|
NM_032119.4(ADGRV1):c.17108G>A (p.Arg5703His)
|
rs201073459
|
0.00003
|
|
NM_032119.4(ADGRV1):c.17857-6T>C
|
rs773357747
|
0.00003
|
|
NM_032119.4(ADGRV1):c.17869G>A (p.Ala5957Thr)
|
rs765800403
|
0.00003
|
|
NM_032119.4(ADGRV1):c.1854G>A (p.Glu618=)
|
rs376904160
|
0.00003
|
|
NM_032119.4(ADGRV1):c.18601A>C (p.Asn6201His)
|
rs201299038
|
0.00003
|
|
NM_032119.4(ADGRV1):c.267C>T (p.Ala89=)
|
rs759771981
|
0.00003
|
|
NM_032119.4(ADGRV1):c.2885C>G (p.Ser962Cys)
|
rs759360751
|
0.00003
|
|
NM_032119.4(ADGRV1):c.3212G>A (p.Ser1071Asn)
|
rs752410892
|
0.00003
|
|
NM_032119.4(ADGRV1):c.4658G>A (p.Arg1553His)
|
rs369994629
|
0.00003
|
|
NM_032119.4(ADGRV1):c.5313+4A>G
|
rs748976832
|
0.00003
|
|
NM_032119.4(ADGRV1):c.5623G>A (p.Gly1875Arg)
|
rs727503075
|
0.00003
|
|
NM_032119.4(ADGRV1):c.5658A>G (p.Thr1886=)
|
rs377468788
|
0.00003
|
|
NM_032119.4(ADGRV1):c.664G>A (p.Asp222Asn)
|
rs763872010
|
0.00003
|
|
NM_032119.4(ADGRV1):c.7907A>G (p.Asp2636Gly)
|
rs770468449
|
0.00003
|
|
NM_032119.4(ADGRV1):c.9772G>A (p.Val3258Ile)
|
rs764987437
|
0.00003
|
|
NM_032380.5(GFM2):c.431-3T>C
|
rs369071633
|
0.00003
|
|
NM_032409.3(PINK1):c.960-11C>T
|
rs371943401
|
0.00003
|
|
NM_032520.5(GNPTG):c.234-8G>T
|
rs369333639
|
0.00003
|
|
NM_032520.5(GNPTG):c.42C>T (p.Leu14=)
|
rs776361173
|
0.00003
|
|
NM_032578.4(MYPN):c.410G>C (p.Arg137Thr)
|
rs765931465
|
0.00003
|
|
NM_032601.4(MCEE):c.178A>C (p.Lys60Gln)
|
rs147401037
|
0.00003
|
|
NM_032620.4(GTPBP3):c.974+3G>A
|
rs1291303532
|
0.00003
|
|
NM_032634.4(PIGO):c.2854+7C>A
|
rs768338180
|
0.00003
|
|
NM_032634.4(PIGO):c.3118G>A (p.Val1040Ile)
|
rs149439295
|
0.00003
|
|
NM_032977.4(CASP10):c.879C>A (p.Ser293Arg)
|
rs369897442
|
0.00003
|
|
NM_033056.4(PCDH15):c.4875_4894del (p.Leu1626fs)
|
rs772393186
|
0.00003
|
|
NM_033109.5(PNPT1):c.1566T>A (p.Gly522=)
|
rs754237697
|
0.00003
|
|
NM_033305.3(VPS13A):c.5725T>C (p.Leu1909=)
|
rs139817600
|
0.00003
|
|
NM_033305.3(VPS13A):c.9176A>G (p.Asn3059Ser)
|
rs768641511
|
0.00003
|
|
NM_033380.3(COL4A5):c.2882G>T (p.Gly961Val)
|
rs768478427
|
0.00003
|
|
NM_033641.4(COL4A6):c.4073C>T (p.Ser1358Phe)
|
rs202146097
|
0.00003
|
|
NM_052845.4(MMAB):c.732G>A (p.Ser244=)
|
rs186864802
|
0.00003
|
|
NM_052859.4(RFT1):c.23G>A (p.Gly8Asp)
|
rs151322409
|
0.00003
|
|
NM_052867.4(NALCN):c.2495A>G (p.Tyr832Cys)
|
rs549182297
|
0.00003
|
|
NM_052872.4(IL17F):c.427T>C (p.Leu143=)
|
rs1015495067
|
0.00003
|
|
NM_053013.4(ENO3):c.1047G>A (p.Ser349=)
|
rs527864393
|
0.00003
|
|
NM_053025.4(MYLK):c.1509A>G (p.Gln503=)
|
rs948829374
|
0.00003
|
|
NM_053025.4(MYLK):c.2781C>T (p.Ala927=)
|
rs12172928
|
0.00003
|
|
NM_053025.4(MYLK):c.344G>A (p.Arg115His)
|
rs141131535
|
0.00003
|
|
NM_053025.4(MYLK):c.4104C>T (p.Ile1368=)
|
rs376676607
|
0.00003
|
|
NM_053025.4(MYLK):c.4743C>T (p.Ile1581=)
|
rs371814184
|
0.00003
|
|
NM_053025.4(MYLK):c.4838-3C>T
|
rs776825316
|
0.00003
|
|
NM_053025.4(MYLK):c.5132C>T (p.Thr1711Met)
|
rs374662467
|
0.00003
|
|
NM_054012.4(ASS1):c.786C>T (p.Gly262=)
|
rs536799104
|
0.00003
|
|
NM_054027.6(ANKH):c.27C>T (p.His9=)
|
rs199583793
|
0.00003
|
|
NM_057176.3(BSND):c.917T>C (p.Leu306Pro)
|
rs139049536
|
0.00003
|
|
NM_058216.3(RAD51C):c.7G>A (p.Gly3Arg)
|
rs376403182
|
0.00003
|
|
NM_080632.3(UPF3B):c.758T>C (p.Ile253Thr)
|
rs754982440
|
0.00003
|
|
NM_080680.3(COL11A2):c.1119C>T (p.Ala373=)
|
rs753417704
|
0.00003
|
|
NM_080680.3(COL11A2):c.1363C>T (p.Arg455Trp)
|
rs144862714
|
0.00003
|
|
NM_080680.3(COL11A2):c.1381G>T (p.Gly461Cys)
|
rs764998691
|
0.00003
|
|
NM_080680.3(COL11A2):c.1607G>A (p.Arg536Gln)
|
rs770888294
|
0.00003
|
|
NM_080680.3(COL11A2):c.3020C>T (p.Pro1007Leu)
|
rs771092817
|
0.00003
|
|
NM_080680.3(COL11A2):c.3064G>A (p.Ala1022Thr)
|
rs1398107304
|
0.00003
|
|
NM_080680.3(COL11A2):c.3138G>C (p.Glu1046Asp)
|
rs773329088
|
0.00003
|
|
NM_080680.3(COL11A2):c.3325C>T (p.Pro1109Ser)
|
rs761687232
|
0.00003
|
|
NM_080680.3(COL11A2):c.3985G>A (p.Glu1329Lys)
|
rs774304709
|
0.00003
|
|
NM_080680.3(COL11A2):c.4190T>G (p.Leu1397Arg)
|
rs571981688
|
0.00003
|
|
NM_080680.3(COL11A2):c.854C>T (p.Thr285Met)
|
rs747064765
|
0.00003
|
|
NM_080911.3(UNG):c.36C>A (p.Ser12=)
|
rs772832695
|
0.00003
|
|
NM_130837.3(OPA1):c.245A>G (p.Tyr82Cys)
|
rs749063844
|
0.00003
|
|
NM_130837.3(OPA1):c.33-8T>C
|
rs370303596
|
0.00003
|
|
NM_130837.3(OPA1):c.611-9A>G
|
rs372157755
|
0.00003
|
|
NM_130839.5(UBE3A):c.*4A>G
|
rs755581358
|
0.00003
|
|
NM_130839.5(UBE3A):c.582A>G (p.Ala194=)
|
rs764101035
|
0.00003
|
|
NM_130839.5(UBE3A):c.789C>T (p.Asn263=)
|
rs1453409055
|
0.00003
|
|
NM_133497.4(KCNV2):c.1086C>G (p.Arg362=)
|
rs199886720
|
0.00003
|
|
NM_133642.5(LARGE1):c.2208G>A (p.Gln736=)
|
rs759427879
|
0.00003
|
|
NM_138387.4(G6PC3):c.219-13T>C
|
rs773122600
|
0.00003
|
|
NM_138691.3(TMC1):c.627C>T (p.Leu209=)
|
rs748580616
|
0.00003
|
|
NM_138691.3(TMC1):c.936T>G (p.Asn312Lys)
|
rs148443938
|
0.00003
|
|
NM_138694.4(PKHD1):c.11507-8C>T
|
rs755710579
|
0.00003
|
|
NM_138694.4(PKHD1):c.1913T>C (p.Met638Thr)
|
rs181546197
|
0.00003
|
|
NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr)
|
rs201611688
|
0.00003
|
|
NM_138694.4(PKHD1):c.4845G>A (p.Thr1615=)
|
rs750233738
|
0.00003
|
|
NM_138694.4(PKHD1):c.708-4G>A
|
rs748018742
|
0.00003
|
|
NM_138711.6(PPARG):c.145G>A (p.Glu49Lys)
|
rs777334819
|
0.00003
|
|
NM_138927.4(SON):c.5170A>G (p.Asn1724Asp)
|
rs372853725
|
0.00003
|
|
NM_139057.4(ADAMTS17):c.1074T>C (p.Val358=)
|
rs765922253
|
0.00003
|
|
NM_139343.3(BIN1):c.1473T>C (p.Pro491=)
|
rs779756862
|
0.00003
|
|
NM_139343.3(BIN1):c.675G>A (p.Glu225=)
|
rs148179522
|
0.00003
|
|
NM_144573.4(NEXN):c.634T>A (p.Tyr212Asn)
|
rs769549962
|
0.00003
|
|
NM_144643.4(SCLT1):c.638C>T (p.Thr213Ile)
|
rs760824351
|
0.00003
|
|
NM_144670.6(A2ML1):c.1833+10T>C
|
rs753086817
|
0.00003
|
|
NM_144670.6(A2ML1):c.2669A>C (p.Gln890Pro)
|
rs768785455
|
0.00003
|
|
NM_144687.4(NLRP12):c.3003C>T (p.Thr1001=)
|
rs556001110
|
0.00003
|
|
NM_144687.4(NLRP12):c.858C>T (p.Pro286=)
|
rs145171629
|
0.00003
|
|
NM_144991.3(TSPEAR):c.41C>T (p.Ala14Val)
|
rs140778310
|
0.00003
|
|
NM_144997.7(FLCN):c.586A>G (p.Ile196Val)
|
rs201078144
|
0.00003
|
|
NM_144997.7(FLCN):c.779+5C>T
|
rs745645385
|
0.00003
|
|
NM_145239.3(PRRT2):c.755C>G (p.Ala252Gly)
|
rs1053144630
|
0.00003
|
|
NM_145309.6(LRRC51):c.115C>T (p.Arg39Ter)
|
rs780299621
|
0.00003
|
|
NM_145649.5(GCNT2):c.1018+15C>G
|
rs78667015
|
0.00003
|
|
NM_145861.4(EDARADD):c.600C>T (p.Asp200=)
|
rs74942492
|
0.00003
|
|
NM_152296.5(ATP1A3):c.3013+12C>T
|
rs782424595
|
0.00003
|
|
NM_152383.5(DIS3L2):c.453G>A (p.Pro151=)
|
rs567611268
|
0.00003
|
|
NM_152564.5(VPS13B):c.1121C>T (p.Thr374Ile)
|
rs753781360
|
0.00003
|
|
NM_152564.5(VPS13B):c.1770G>A (p.Ala590=)
|
rs760564848
|
0.00003
|
|
NM_152564.5(VPS13B):c.2885C>T (p.Thr962Met)
|
rs547184348
|
0.00003
|
|
NM_152564.5(VPS13B):c.2935-4C>T
|
rs207469601
|
0.00003
|
|
NM_152564.5(VPS13B):c.5761A>G (p.Thr1921Ala)
|
rs112749780
|
0.00003
|
|
NM_152564.5(VPS13B):c.7248C>T (p.Ser2416=)
|
rs886043216
|
0.00003
|
|
NM_152564.5(VPS13B):c.8448T>C (p.Ile2816=)
|
rs763701016
|
0.00003
|
|
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=)
|
rs775883776
|
0.00003
|
|
NM_152594.3(SPRED1):c.684+50A>T
|
rs200338097
|
0.00003
|
|
NM_152703.5(SAMD9L):c.1764A>G (p.Gln588=)
|
rs776606453
|
0.00003
|
|
NM_152783.5(D2HGDH):c.1083G>A (p.Ala361=)
|
rs183342534
|
0.00003
|
|
NM_152783.5(D2HGDH):c.1141-12C>T
|
rs753825335
|
0.00003
|
|
NM_152783.5(D2HGDH):c.324G>A (p.Thr108=)
|
rs371102955
|
0.00003
|
|
NM_153240.5(NPHP3):c.189G>C (p.Gly63=)
|
rs750280281
|
0.00003
|
|
NM_153240.5(NPHP3):c.3063G>A (p.Ala1021=)
|
rs769832219
|
0.00003
|
|
NM_153603.4(COG7):c.1167G>A (p.Gln389=)
|
rs201313774
|
0.00003
|
|
NM_153603.4(COG7):c.1410-6G>C
|
rs369925503
|
0.00003
|
|
NM_153603.4(COG7):c.1629T>C (p.Tyr543=)
|
rs760342154
|
0.00003
|
|
NM_153603.4(COG7):c.1804-13G>A
|
rs759680428
|
0.00003
|
|
NM_153676.4(USH1C):c.1703C>T (p.Pro568Leu)
|
rs747675437
|
0.00003
|
|
NM_153676.4(USH1C):c.2551T>G (p.Ser851Ala)
|
rs200779709
|
0.00003
|
|
NM_153700.2(STRC):c.4237A>T (p.Thr1413Ser)
|
rs754834213
|
0.00003
|
|
NM_170707.4(LMNA):c.1227A>G (p.Thr409=)
|
rs762130433
|
0.00003
|
|
NM_170707.4(LMNA):c.78C>T (p.Ile26=)
|
rs373721390
|
0.00003
|
|
NM_170707.4(LMNA):c.937-8C>A
|
rs751707982
|
0.00003
|
|
NM_170784.3(MKKS):c.1161+4G>A
|
rs761886025
|
0.00003
|
|
NM_172107.4(KCNQ2):c.1405G>A (p.Ala469Thr)
|
rs781778855
|
0.00003
|
|
NM_172362.3(KCNH1):c.2864T>A (p.Leu955His)
|
rs895624409
|
0.00003
|
|
NM_173500.4(TTBK2):c.3418C>T (p.Pro1140Ser)
|
rs576737530
|
0.00003
|
|
NM_173630.4(RTTN):c.1768C>T (p.Leu590=)
|
rs752422245
|
0.00003
|
|
NM_173842.3(IL1RN):c.414T>C (p.Ser138=)
|
rs146491054
|
0.00003
|
|
NM_174934.4(SCN4B):c.199C>T (p.Arg67Trp)
|
rs775614261
|
0.00003
|
|
NM_174934.4(SCN4B):c.464-12C>T
|
rs375056921
|
0.00003
|
|
NM_174934.4(SCN4B):c.482C>G (p.Thr161Arg)
|
rs750329453
|
0.00003
|
|
NM_174936.4(PCSK9):c.1432G>A (p.Ala478Thr)
|
rs375582388
|
0.00003
|
|
NM_174936.4(PCSK9):c.1863+6G>A
|
rs568853401
|
0.00003
|
|
NM_174936.4(PCSK9):c.1954A>G (p.Asn652Asp)
|
rs201280059
|
0.00003
|
|
NM_177438.3(DICER1):c.1381A>G (p.Ile461Val)
|
rs141163928
|
0.00003
|
|
NM_177438.3(DICER1):c.162A>C (p.Ala54=)
|
rs776085363
|
0.00003
|
|
NM_177438.3(DICER1):c.1795A>G (p.Thr599Ala)
|
rs766492523
|
0.00003
|
|
NM_177438.3(DICER1):c.2133T>C (p.His711=)
|
rs878855248
|
0.00003
|
|
NM_177438.3(DICER1):c.3479C>A (p.Ser1160Tyr)
|
rs774583162
|
0.00003
|
|
NM_177438.3(DICER1):c.4740G>T (p.Gln1580His)
|
rs369465519
|
0.00003
|
|
NM_178170.3(NEK8):c.48-10G>A
|
rs769058088
|
0.00003
|
|
NM_181486.4(TBX5):c.16G>A (p.Glu6Lys)
|
rs145365553
|
0.00003
|
|
NM_181486.4(TBX5):c.828C>T (p.Ser276=)
|
rs146908258
|
0.00003
|
|
NM_181507.2(HPS5):c.3059-10G>A
|
rs764418389
|
0.00003
|
|
NM_182894.3(VSX2):c.777G>A (p.Ser259=)
|
rs371707151
|
0.00003
|
|
NM_182914.3(SYNE2):c.10947G>A (p.Met3649Ile)
|
rs772140514
|
0.00003
|
|
NM_182914.3(SYNE2):c.14980T>C (p.Phe4994Leu)
|
rs747348017
|
0.00003
|
|
NM_182914.3(SYNE2):c.17039G>A (p.Arg5680Gln)
|
rs554186246
|
0.00003
|
|
NM_182914.3(SYNE2):c.18963G>T (p.Leu6321=)
|
rs757232346
|
0.00003
|
|
NM_182914.3(SYNE2):c.6880-4G>A
|
rs776756586
|
0.00003
|
|
NM_182961.4(SYNE1):c.11247G>A (p.Thr3749=)
|
rs138882800
|
0.00003
|
|
NM_182961.4(SYNE1):c.11595G>A (p.Thr3865=)
|
rs760332489
|
0.00003
|
|
NM_182961.4(SYNE1):c.11702G>C (p.Ser3901Thr)
|
rs376327805
|
0.00003
|
|
NM_182961.4(SYNE1):c.12573C>T (p.Thr4191=)
|
rs143851739
|
0.00003
|
|
NM_182961.4(SYNE1):c.12930C>T (p.Asp4310=)
|
rs760209358
|
0.00003
|
|
NM_182961.4(SYNE1):c.18930G>T (p.Gln6310His)
|
rs759556319
|
0.00003
|
|
NM_182961.4(SYNE1):c.19927T>C (p.Leu6643=)
|
rs143118084
|
0.00003
|
|
NM_182961.4(SYNE1):c.22035T>G (p.Thr7345=)
|
rs750669148
|
0.00003
|
|
NM_182961.4(SYNE1):c.24449A>G (p.Lys8150Arg)
|
rs557350925
|
0.00003
|
|
NM_182961.4(SYNE1):c.5250A>G (p.Pro1750=)
|
rs368364250
|
0.00003
|
|
NM_182961.4(SYNE1):c.6151G>C (p.Ala2051Pro)
|
rs376518010
|
0.00003
|
|
NM_182961.4(SYNE1):c.9504A>G (p.Leu3168=)
|
rs1020832262
|
0.00003
|
|
NM_183235.3(RAB27A):c.344-10A>G
|
rs199702031
|
0.00003
|
|
NM_183357.3(ADCY5):c.203G>C (p.Arg68Pro)
|
rs776480737
|
0.00003
|
|
NM_183357.3(ADCY5):c.2632G>T (p.Ala878Ser)
|
rs146316902
|
0.00003
|
|
NM_194248.3(OTOF):c.1699G>A (p.Ala567Thr)
|
rs771560305
|
0.00003
|
|
NM_194248.3(OTOF):c.1713G>A (p.Leu571=)
|
rs397517935
|
0.00003
|
|
NM_194248.3(OTOF):c.2147G>A (p.Ser716Asn)
|
rs147657016
|
0.00003
|
|
NM_194248.3(OTOF):c.2465G>A (p.Arg822Gln)
|
rs373681505
|
0.00003
|
|
NM_194248.3(OTOF):c.40C>T (p.Arg14Trp)
|
rs774530840
|
0.00003
|
|
NM_194248.3(OTOF):c.4186G>A (p.Glu1396Lys)
|
rs745399096
|
0.00003
|
|
NM_194248.3(OTOF):c.4783G>A (p.Ala1595Thr)
|
rs772763082
|
0.00003
|
|
NM_194248.3(OTOF):c.4922G>A (p.Arg1641His)
|
rs200283244
|
0.00003
|
|
NM_198053.3(CD247):c.58+8C>T
|
rs201494226
|
0.00003
|
|
NM_198076.6(COX20):c.222-3A>C
|
rs200065889
|
0.00003
|
|
NM_198252.3(GSN):c.1103G>A (p.Arg368Gln)
|
rs781764487
|
0.00003
|
|
NM_198253.3(TERT):c.150G>A (p.Leu50=)
|
rs886044153
|
0.00003
|
|
NM_198253.3(TERT):c.2145C>T (p.Gly715=)
|
rs769467251
|
0.00003
|
|
NM_198253.3(TERT):c.2301A>G (p.Thr767=)
|
rs374592280
|
0.00003
|
|
NM_198253.3(TERT):c.2971-10G>T
|
rs878855303
|
0.00003
|
|
NM_198253.3(TERT):c.3267C>T (p.Tyr1089=)
|
rs759883263
|
0.00003
|
|
NM_198576.4(AGRN):c.749A>C (p.Asn250Thr)
|
rs753435616
|
0.00003
|
|
NM_198578.4(LRRK2):c.1446A>G (p.Ala482=)
|
rs757454147
|
0.00003
|
|
NM_198904.4(GABRG2):c.394A>T (p.Ile132Phe)
|
rs752621588
|
0.00003
|
|
NM_201384.3(PLEC):c.12585C>T (p.Ile4195=)
|
rs1002095432
|
0.00003
|
|
NM_201384.3(PLEC):c.12703A>G (p.Met4235Val)
|
rs782479828
|
0.00003
|
|
NM_201384.3(PLEC):c.2550C>G (p.Ala850=)
|
rs376777606
|
0.00003
|
|
NM_201384.3(PLEC):c.3501C>T (p.His1167=)
|
rs782038506
|
0.00003
|
|
NM_201384.3(PLEC):c.366T>C (p.Asn122=)
|
rs782096761
|
0.00003
|
|
NM_201384.3(PLEC):c.3955C>T (p.Leu1319=)
|
rs201416081
|
0.00003
|
|
NM_201384.3(PLEC):c.678G>A (p.Ala226=)
|
rs782369854
|
0.00003
|
|
NM_201384.3(PLEC):c.7220G>A (p.Arg2407Gln)
|
rs782618396
|
0.00003
|
|
NM_201384.3(PLEC):c.7822G>A (p.Ala2608Thr)
|
rs199995144
|
0.00003
|
|
NM_203447.4(DOCK8):c.1656A>G (p.Val552=)
|
rs150595667
|
0.00003
|
|
NM_206933.4(USH2A):c.10497T>C (p.Pro3499=)
|
rs749177032
|
0.00003
|
|
NM_206933.4(USH2A):c.10922G>A (p.Arg3641Lys)
|
rs397517969
|
0.00003
|
|
NM_206933.4(USH2A):c.3800C>T (p.Ala1267Val)
|
rs768141777
|
0.00003
|
|
NM_206933.4(USH2A):c.4958G>A (p.Arg1653Gln)
|
rs372436408
|
0.00003
|
|
NM_206933.4(USH2A):c.6618A>G (p.Gln2206=)
|
rs745614158
|
0.00003
|
|
NM_206933.4(USH2A):c.7451+3G>A
|
rs397518030
|
0.00003
|
|
NM_206933.4(USH2A):c.8576G>A (p.Arg2859His)
|
rs778272177
|
0.00003
|
|
NM_206933.4(USH2A):c.9989A>T (p.Asn3330Ile)
|
rs397518050
|
0.00003
|
|
NM_206937.2(LIG4):c.2274T>C (p.Tyr758=)
|
rs529756815
|
0.00003
|
|
NM_207122.2(EXT2):c.383G>A (p.Arg128Gln)
|
rs771039412
|
0.00003
|
|
NM_207361.6(FREM2):c.1250T>C (p.Leu417Pro)
|
rs571694324
|
0.00003
|
|
NM_213599.3(ANO5):c.1689T>C (p.Phe563=)
|
rs527322470
|
0.00003
|
|
NM_213599.3(ANO5):c.276A>G (p.Lys92=)
|
rs201678262
|
0.00003
|
|
NM_000016.6(ACADM):c.276A>G (p.Pro92=)
|
rs1212443202
|
0.00002
|
|
NM_000016.6(ACADM):c.927C>T (p.Phe309=)
|
rs771550655
|
0.00002
|
|
NM_000018.4(ACADVL):c.477+8C>T
|
rs1437698813
|
0.00002
|
|
NM_000018.4(ACADVL):c.519C>T (p.Gly173=)
|
rs757830946
|
0.00002
|
|
NM_000018.4(ACADVL):c.858G>A (p.Arg286=)
|
rs531514327
|
0.00002
|
|
NM_000018.4(ACADVL):c.957G>A (p.Ser319=)
|
rs143870522
|
0.00002
|
|
NM_000018.4(ACADVL):c.963C>T (p.Asn321=)
|
rs568118142
|
0.00002
|
|
NM_000020.3(ACVRL1):c.270C>T (p.Cys90=)
|
rs556168617
|
0.00002
|
|
NM_000020.3(ACVRL1):c.429C>T (p.Val143=)
|
rs762047618
|
0.00002
|
|
NM_000022.4(ADA):c.282C>T (p.Gly94=)
|
rs771207375
|
0.00002
|
|
NM_000030.3(AGXT):c.942+14T>G
|
rs886055843
|
0.00002
|
|
NM_000033.4(ABCD1):c.208G>A (p.Val70Ile)
|
rs782701925
|
0.00002
|
|
NM_000033.4(ABCD1):c.386C>A (p.Ala129Asp)
|
rs782359412
|
0.00002
|
|
NM_000033.4(ABCD1):c.515G>A (p.Arg172His)
|
rs541171928
|
0.00002
|
|
NM_000035.4(ALDOB):c.255C>T (p.Tyr85=)
|
rs761063847
|
0.00002
|
|
NM_000035.4(ALDOB):c.954T>C (p.Ala318=)
|
rs572044496
|
0.00002
|
|
NM_000036.3(AMPD1):c.144G>A (p.Pro48=)
|
rs145786786
|
0.00002
|
|
NM_000037.4(ANK1):c.1563C>T (p.Ala521=)
|
rs762615459
|
0.00002
|
|
NM_000037.4(ANK1):c.1824C>T (p.Ile608=)
|
rs144904116
|
0.00002
|
|
NM_000037.4(ANK1):c.5520C>T (p.Ala1840=)
|
rs116148295
|
0.00002
|
|
NM_000038.6(APC):c.1264G>A (p.Glu422Lys)
|
rs755069015
|
0.00002
|
|
NM_000038.6(APC):c.1589T>C (p.Val530Ala)
|
rs202199891
|
0.00002
|
|
NM_000038.6(APC):c.1685C>T (p.Thr562Met)
|
rs587783034
|
0.00002
|
|
NM_000038.6(APC):c.1984C>A (p.Leu662Ile)
|
rs756859993
|
0.00002
|
|
NM_000038.6(APC):c.2026A>G (p.Ile676Val)
|
rs745529713
|
0.00002
|
|
NM_000038.6(APC):c.2222A>G (p.Asn741Ser)
|
rs150209825
|
0.00002
|
|
NM_000038.6(APC):c.2240C>T (p.Ser747Leu)
|
rs773020689
|
0.00002
|
|
NM_000038.6(APC):c.2359A>G (p.Ser787Gly)
|
rs748075979
|
0.00002
|
|
NM_000038.6(APC):c.2444A>C (p.Asn815Thr)
|
rs762990578
|
0.00002
|
|
NM_000038.6(APC):c.2764C>T (p.Leu922Phe)
|
rs150543576
|
0.00002
|
|
NM_000038.6(APC):c.3347G>A (p.Gly1116Asp)
|
rs730881224
|
0.00002
|
|
NM_000038.6(APC):c.3425A>C (p.Asn1142Thr)
|
rs138410865
|
0.00002
|
|
NM_000038.6(APC):c.4343C>T (p.Thr1448Ile)
|
rs907886109
|
0.00002
|
|
NM_000038.6(APC):c.4399C>T (p.Pro1467Ser)
|
rs749142480
|
0.00002
|
|
NM_000038.6(APC):c.4913T>C (p.Met1638Thr)
|
rs201797422
|
0.00002
|
|
NM_000038.6(APC):c.5060G>A (p.Arg1687Gln)
|
rs779068685
|
0.00002
|
|
NM_000038.6(APC):c.5147A>G (p.Asn1716Ser)
|
rs141298709
|
0.00002
|
|
NM_000038.6(APC):c.5225G>A (p.Arg1742His)
|
rs199775075
|
0.00002
|
|
NM_000038.6(APC):c.5308A>G (p.Lys1770Glu)
|
rs551183536
|
0.00002
|
|
NM_000038.6(APC):c.5363G>A (p.Arg1788His)
|
rs201472075
|
0.00002
|
|
NM_000038.6(APC):c.5424C>T (p.Asn1808=)
|
rs747721259
|
0.00002
|
|
NM_000038.6(APC):c.5524T>A (p.Ser1842Thr)
|
rs754648125
|
0.00002
|
|
NM_000038.6(APC):c.5752A>G (p.Ile1918Val)
|
rs776966222
|
0.00002
|
|
NM_000038.6(APC):c.5957C>T (p.Pro1986Leu)
|
rs756266694
|
0.00002
|
|
NM_000038.6(APC):c.6487A>C (p.Lys2163Gln)
|
rs759728732
|
0.00002
|
|
NM_000038.6(APC):c.6512G>A (p.Gly2171Glu)
|
rs748745776
|
0.00002
|
|
NM_000038.6(APC):c.6539A>G (p.Lys2180Arg)
|
rs762955111
|
0.00002
|
|
NM_000038.6(APC):c.6623A>C (p.Glu2208Ala)
|
rs777612081
|
0.00002
|
|
NM_000038.6(APC):c.6670A>G (p.Ile2224Val)
|
rs374597207
|
0.00002
|
|
NM_000038.6(APC):c.689G>A (p.Arg230His)
|
rs587780545
|
0.00002
|
|
NM_000038.6(APC):c.6952A>G (p.Ser2318Gly)
|
rs747056590
|
0.00002
|
|
NM_000038.6(APC):c.7105C>T (p.Pro2369Ser)
|
rs377308875
|
0.00002
|
|
NM_000038.6(APC):c.7172T>G (p.Ile2391Ser)
|
rs747797803
|
0.00002
|
|
NM_000038.6(APC):c.7391C>A (p.Ser2464Tyr)
|
rs766473931
|
0.00002
|
|
NM_000038.6(APC):c.7495G>C (p.Val2499Leu)
|
rs33941929
|
0.00002
|
|
NM_000038.6(APC):c.7550A>G (p.Tyr2517Cys)
|
rs587783036
|
0.00002
|
|
NM_000038.6(APC):c.8017A>G (p.Arg2673Gly)
|
rs767286063
|
0.00002
|
|
NM_000038.6(APC):c.8162G>A (p.Arg2721His)
|
rs587780606
|
0.00002
|
|
NM_000038.6(APC):c.8199A>G (p.Gln2733=)
|
rs372365378
|
0.00002
|
|
NM_000038.6(APC):c.835-3T>C
|
rs372090940
|
0.00002
|
|
NM_000038.6(APC):c.8353A>C (p.Asn2785His)
|
rs769736863
|
0.00002
|
|
NM_000038.6(APC):c.8429A>G (p.Asn2810Ser)
|
rs758044862
|
0.00002
|
|
NM_000038.6(APC):c.8480G>A (p.Gly2827Glu)
|
rs571511652
|
0.00002
|
|
NM_000046.5(ARSB):c.246G>A (p.Leu82=)
|
rs1035210606
|
0.00002
|
|
NM_000048.4(ASL):c.243G>C (p.Leu81=)
|
rs774204716
|
0.00002
|
|
NM_000048.4(ASL):c.919-4G>A
|
rs756230523
|
0.00002
|
|
NM_000051.4(ATM):c.1237C>T (p.Leu413=)
|
rs1565381686
|
0.00002
|
|
NM_000051.4(ATM):c.1271C>A (p.Pro424His)
|
rs147472613
|
0.00002
|
|
NM_000051.4(ATM):c.1379C>T (p.Thr460Met)
|
rs587781841
|
0.00002
|
|
NM_000051.4(ATM):c.1855A>C (p.Asn619His)
|
rs140882609
|
0.00002
|
|
NM_000051.4(ATM):c.2085G>A (p.Leu695=)
|
rs786202229
|
0.00002
|
|
NM_000051.4(ATM):c.2159G>A (p.Arg720His)
|
rs55830714
|
0.00002
|
|
NM_000051.4(ATM):c.2262A>G (p.Gln754=)
|
rs778320952
|
0.00002
|
|
NM_000051.4(ATM):c.2638+6T>C
|
rs768305533
|
0.00002
|
|
NM_000051.4(ATM):c.3630G>A (p.Met1210Ile)
|
rs587778073
|
0.00002
|
|
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile)
|
rs35184530
|
0.00002
|
|
NM_000051.4(ATM):c.4201T>A (p.Leu1401Ile)
|
rs587779838
|
0.00002
|
|
NM_000051.4(ATM):c.4437-9C>T
|
rs766003804
|
0.00002
|
|
NM_000051.4(ATM):c.5002C>T (p.Leu1668=)
|
rs747317946
|
0.00002
|
|
NM_000051.4(ATM):c.5005+8A>G
|
rs1204604787
|
0.00002
|
|
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val)
|
rs375131360
|
0.00002
|
|
NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile)
|
rs538452060
|
0.00002
|
|
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr)
|
rs148064985
|
0.00002
|
|
NM_000051.4(ATM):c.6396A>G (p.Leu2132=)
|
rs370537345
|
0.00002
|
|
NM_000051.4(ATM):c.660G>A (p.Ala220=)
|
rs763669136
|
0.00002
|
|
NM_000051.4(ATM):c.7358G>A (p.Arg2453His)
|
rs587781361
|
0.00002
|
|
NM_000051.4(ATM):c.7630-3C>T
|
rs587782448
|
0.00002
|
|
NM_000051.4(ATM):c.7808A>G (p.Asn2603Ser)
|
rs150355232
|
0.00002
|
|
NM_000051.4(ATM):c.8268+6T>A
|
rs747153940
|
0.00002
|
|
NM_000051.4(ATM):c.8944C>T (p.Pro2982Ser)
|
rs1485620194
|
0.00002
|
|
NM_000051.4(ATM):c.9045G>A (p.Glu3015=)
|
rs786203336
|
0.00002
|
|
NM_000051.4(ATM):c.95G>A (p.Arg32His)
|
rs368161489
|
0.00002
|
|
NM_000052.7(ATP7A):c.15G>A (p.Met5Ile)
|
rs781952393
|
0.00002
|
|
NM_000052.7(ATP7A):c.2225A>G (p.Lys742Arg)
|
rs782664014
|
0.00002
|
|
NM_000052.7(ATP7A):c.2725G>A (p.Ala909Thr)
|
rs146119866
|
0.00002
|
|
NM_000052.7(ATP7A):c.3533A>G (p.Tyr1178Cys)
|
rs1557238006
|
0.00002
|
|
NM_000052.7(ATP7A):c.3736A>G (p.Met1246Val)
|
rs1385333276
|
0.00002
|
|
NM_000052.7(ATP7A):c.3775A>G (p.Lys1259Glu)
|
rs782428979
|
0.00002
|
|
NM_000052.7(ATP7A):c.4352G>A (p.Gly1451Asp)
|
rs782232632
|
0.00002
|
|
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe)
|
rs782364202
|
0.00002
|
|
NM_000053.4(ATP7B):c.1122C>G (p.Val374=)
|
rs201254466
|
0.00002
|
|
NM_000053.4(ATP7B):c.1230A>G (p.Pro410=)
|
rs772843652
|
0.00002
|
|
NM_000053.4(ATP7B):c.2374C>T (p.Leu792=)
|
rs757244072
|
0.00002
|
|
NM_000053.4(ATP7B):c.3582C>T (p.Ile1194=)
|
rs761183334
|
0.00002
|
|
NM_000053.4(ATP7B):c.4035C>T (p.Pro1345=)
|
rs564541246
|
0.00002
|
|
NM_000057.4(BLM):c.395G>A (p.Arg132Gln)
|
rs775197136
|
0.00002
|
|
NM_000057.4(BLM):c.918A>G (p.Glu306=)
|
rs760806762
|
0.00002
|
|
NM_000059.4(BRCA2):c.10089A>G (p.Ile3363Met)
|
rs80358390
|
0.00002
|
|
NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His)
|
rs80358398
|
0.00002
|
|
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met)
|
rs55853199
|
0.00002
|
|
NM_000059.4(BRCA2):c.10240A>G (p.Thr3414Ala)
|
rs80358405
|
0.00002
|
|
NM_000059.4(BRCA2):c.1078C>G (p.Pro360Ala)
|
rs587782057
|
0.00002
|
|
NM_000059.4(BRCA2):c.1287A>G (p.Leu429=)
|
rs80359782
|
0.00002
|
|
NM_000059.4(BRCA2):c.1312G>T (p.Asp438Tyr)
|
rs765436962
|
0.00002
|
|
NM_000059.4(BRCA2):c.1376T>C (p.Leu459Ser)
|
rs587781799
|
0.00002
|
|
NM_000059.4(BRCA2):c.1409A>C (p.Glu470Ala)
|
rs750341436
|
0.00002
|
|
NM_000059.4(BRCA2):c.1472C>G (p.Thr491Ser)
|
rs397507268
|
0.00002
|
|
NM_000059.4(BRCA2):c.1574C>G (p.Thr525Ser)
|
rs397507271
|
0.00002
|
|
NM_000059.4(BRCA2):c.167A>C (p.Asn56Thr)
|
rs80358454
|
0.00002
|
|
NM_000059.4(BRCA2):c.172G>A (p.Glu58Lys)
|
rs397507603
|
0.00002
|
|
NM_000059.4(BRCA2):c.1763A>G (p.Asn588Ser)
|
rs373400041
|
0.00002
|
|
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser)
|
rs80358463
|
0.00002
|
|
NM_000059.4(BRCA2):c.1804G>A (p.Gly602Arg)
|
rs80358466
|
0.00002
|
|
NM_000059.4(BRCA2):c.1814T>C (p.Ile605Thr)
|
rs80358468
|
0.00002
|
|
NM_000059.4(BRCA2):c.1817C>T (p.Pro606Leu)
|
rs80358469
|
0.00002
|
|
NM_000059.4(BRCA2):c.1820A>C (p.Lys607Thr)
|
rs55962656
|
0.00002
|
|
NM_000059.4(BRCA2):c.1993A>G (p.Thr665Ala)
|
rs144192844
|
0.00002
|
|
NM_000059.4(BRCA2):c.2299A>C (p.Ser767Arg)
|
rs750755676
|
0.00002
|
|
NM_000059.4(BRCA2):c.2389A>G (p.Lys797Glu)
|
rs587782737
|
0.00002
|
|
NM_000059.4(BRCA2):c.2459A>G (p.Asp820Gly)
|
rs80358511
|
0.00002
|
|
NM_000059.4(BRCA2):c.2671G>C (p.Val891Leu)
|
rs756951335
|
0.00002
|
|
NM_000059.4(BRCA2):c.2716A>G (p.Thr906Ala)
|
rs80358528
|
0.00002
|
|
NM_000059.4(BRCA2):c.2789A>G (p.Tyr930Cys)
|
rs431825299
|
0.00002
|
|
NM_000059.4(BRCA2):c.2822T>G (p.Val941Gly)
|
rs398122754
|
0.00002
|
|
NM_000059.4(BRCA2):c.2944A>C (p.Ile982Leu)
|
rs28897717
|
0.00002
|
|
NM_000059.4(BRCA2):c.3069C>A (p.Asn1023Lys)
|
rs759181823
|
0.00002
|
|
NM_000059.4(BRCA2):c.3137A>G (p.Glu1046Gly)
|
rs80358559
|
0.00002
|
|
NM_000059.4(BRCA2):c.3176T>G (p.Leu1059Arg)
|
rs1064793927
|
0.00002
|
|
NM_000059.4(BRCA2):c.3208G>T (p.Ala1070Ser)
|
rs372433502
|
0.00002
|
|
NM_000059.4(BRCA2):c.3256A>G (p.Ile1086Val)
|
rs80358571
|
0.00002
|
|
NM_000059.4(BRCA2):c.3299A>T (p.Asn1100Ile)
|
rs80358575
|
0.00002
|
|
NM_000059.4(BRCA2):c.3310A>C (p.Thr1104Pro)
|
rs80358577
|
0.00002
|
|
NM_000059.4(BRCA2):c.3358G>C (p.Glu1120Gln)
|
rs587778124
|
0.00002
|
|
NM_000059.4(BRCA2):c.3479G>A (p.Arg1160Lys)
|
rs183920365
|
0.00002
|
|
NM_000059.4(BRCA2):c.3494A>G (p.His1165Arg)
|
rs587782201
|
0.00002
|
|
NM_000059.4(BRCA2):c.353G>A (p.Arg118His)
|
rs80358603
|
0.00002
|
|
NM_000059.4(BRCA2):c.3697G>A (p.Ala1233Thr)
|
rs80358613
|
0.00002
|
|
NM_000059.4(BRCA2):c.3698C>T (p.Ala1233Val)
|
rs745700206
|
0.00002
|
|
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp)
|
rs80358626
|
0.00002
|
|
NM_000059.4(BRCA2):c.3916G>A (p.Val1306Ile)
|
rs80358636
|
0.00002
|
|
NM_000059.4(BRCA2):c.3962A>G (p.Asp1321Gly)
|
rs80358645
|
0.00002
|
|
NM_000059.4(BRCA2):c.4039G>C (p.Val1347Leu)
|
rs80358653
|
0.00002
|
|
NM_000059.4(BRCA2):c.4127G>T (p.Gly1376Val)
|
rs780458959
|
0.00002
|
|
NM_000059.4(BRCA2):c.4178C>T (p.Ala1393Val)
|
rs398122776
|
0.00002
|
|
NM_000059.4(BRCA2):c.4429A>G (p.Ile1477Val)
|
rs1159807733
|
0.00002
|
|
NM_000059.4(BRCA2):c.4726C>G (p.Leu1576Val)
|
rs758051329
|
0.00002
|
|
NM_000059.4(BRCA2):c.4779A>C (p.Glu1593Asp)
|
rs80358703
|
0.00002
|
|
NM_000059.4(BRCA2):c.4819A>G (p.Ile1607Val)
|
rs200582465
|
0.00002
|
|
NM_000059.4(BRCA2):c.4854T>A (p.Asp1618Glu)
|
rs80358708
|
0.00002
|
|
NM_000059.4(BRCA2):c.4862G>T (p.Cys1621Phe)
|
rs730881534
|
0.00002
|
|
NM_000059.4(BRCA2):c.4906A>G (p.Lys1636Glu)
|
rs398122788
|
0.00002
|
|
NM_000059.4(BRCA2):c.5014T>C (p.Tyr1672His)
|
rs781671762
|
0.00002
|
|
NM_000059.4(BRCA2):c.5096A>G (p.Asp1699Gly)
|
rs80358732
|
0.00002
|
|
NM_000059.4(BRCA2):c.5104C>T (p.Pro1702Ser)
|
rs80358734
|
0.00002
|
|
NM_000059.4(BRCA2):c.5113A>G (p.Ile1705Val)
|
rs80358737
|
0.00002
|
|
NM_000059.4(BRCA2):c.5167A>G (p.Thr1723Ala)
|
rs80358742
|
0.00002
|
|
NM_000059.4(BRCA2):c.5220A>C (p.Leu1740Phe)
|
rs750671399
|
0.00002
|
|
NM_000059.4(BRCA2):c.5270A>G (p.Tyr1757Cys)
|
rs587776466
|
0.00002
|
|
NM_000059.4(BRCA2):c.5423T>C (p.Ile1808Thr)
|
rs397507350
|
0.00002
|
|
NM_000059.4(BRCA2):c.5428G>A (p.Val1810Ile)
|
rs80358766
|
0.00002
|
|
NM_000059.4(BRCA2):c.5660C>T (p.Thr1887Met)
|
rs397507795
|
0.00002
|
|
NM_000059.4(BRCA2):c.5737T>C (p.Cys1913Arg)
|
rs80358799
|
0.00002
|
|
NM_000059.4(BRCA2):c.5813G>C (p.Gly1938Ala)
|
rs41293499
|
0.00002
|
|
NM_000059.4(BRCA2):c.5836T>C (p.Ser1946Pro)
|
rs80358811
|
0.00002
|
|
NM_000059.4(BRCA2):c.5893C>T (p.Leu1965Phe)
|
rs398122542
|
0.00002
|
|
NM_000059.4(BRCA2):c.5896C>T (p.His1966Tyr)
|
rs80358822
|
0.00002
|
|
NM_000059.4(BRCA2):c.5897A>G (p.His1966Arg)
|
rs80358823
|
0.00002
|
|
NM_000059.4(BRCA2):c.5921C>T (p.Thr1974Ile)
|
rs55730620
|
0.00002
|
|
NM_000059.4(BRCA2):c.5937C>G (p.Ser1979Arg)
|
rs28897737
|
0.00002
|
|
NM_000059.4(BRCA2):c.5975C>T (p.Ser1992Leu)
|
rs80358830
|
0.00002
|
|
NM_000059.4(BRCA2):c.6013G>T (p.Asp2005Tyr)
|
rs587781760
|
0.00002
|
|
NM_000059.4(BRCA2):c.6017G>C (p.Ser2006Thr)
|
rs144784912
|
0.00002
|
|
NM_000059.4(BRCA2):c.6029T>G (p.Val2010Gly)
|
rs80358839
|
0.00002
|
|
NM_000059.4(BRCA2):c.6098T>A (p.Ile2033Lys)
|
rs398122548
|
0.00002
|
|
NM_000059.4(BRCA2):c.6176G>A (p.Ser2059Asn)
|
rs587780657
|
0.00002
|
|
NM_000059.4(BRCA2):c.6331A>G (p.Lys2111Glu)
|
rs773211804
|
0.00002
|
|
NM_000059.4(BRCA2):c.6550C>G (p.Gln2184Glu)
|
rs80358887
|
0.00002
|
|
NM_000059.4(BRCA2):c.6665A>G (p.Tyr2222Cys)
|
rs397507875
|
0.00002
|
|
NM_000059.4(BRCA2):c.6683T>C (p.Val2228Ala)
|
rs80358894
|
0.00002
|
|
NM_000059.4(BRCA2):c.6738A>G (p.Pro2246=)
|
rs760272304
|
0.00002
|
|
NM_000059.4(BRCA2):c.7021C>T (p.Arg2341Cys)
|
rs41293505
|
0.00002
|
|
NM_000059.4(BRCA2):c.708T>C (p.His236=)
|
rs185506536
|
0.00002
|
|
NM_000059.4(BRCA2):c.7418G>A (p.Cys2473Tyr)
|
rs55924966
|
0.00002
|
|
NM_000059.4(BRCA2):c.7507G>A (p.Val2503Ile)
|
rs587782191
|
0.00002
|
|
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe)
|
rs80358980
|
0.00002
|
|
NM_000059.4(BRCA2):c.7643A>G (p.His2548Arg)
|
rs80358992
|
0.00002
|
|
NM_000059.4(BRCA2):c.7684T>C (p.Phe2562Leu)
|
rs80358995
|
0.00002
|
|
NM_000059.4(BRCA2):c.7822C>G (p.Pro2608Ala)
|
rs879255308
|
0.00002
|
|
NM_000059.4(BRCA2):c.794-11T>C
|
rs81002822
|
0.00002
|
|
NM_000059.4(BRCA2):c.8007A>G (p.Arg2669=)
|
rs143999963
|
0.00002
|
|
NM_000059.4(BRCA2):c.800G>A (p.Gly267Glu)
|
rs80359036
|
0.00002
|
|
NM_000059.4(BRCA2):c.8027T>C (p.Met2676Thr)
|
rs80359038
|
0.00002
|
|
NM_000059.4(BRCA2):c.8111C>T (p.Ser2704Phe)
|
rs80359054
|
0.00002
|
|
NM_000059.4(BRCA2):c.8360G>A (p.Arg2787His)
|
rs80359078
|
0.00002
|
|
NM_000059.4(BRCA2):c.8386C>T (p.Pro2796Ser)
|
rs146120136
|
0.00002
|
|
NM_000059.4(BRCA2):c.8573A>G (p.Gln2858Arg)
|
rs80359114
|
0.00002
|
|
NM_000059.4(BRCA2):c.8687G>A (p.Arg2896His)
|
rs80359128
|
0.00002
|
|
NM_000059.4(BRCA2):c.8714A>G (p.Tyr2905Cys)
|
rs431825368
|
0.00002
|
|
NM_000059.4(BRCA2):c.8737G>C (p.Asp2913His)
|
rs144322424
|
0.00002
|
|
NM_000059.4(BRCA2):c.8739C>G (p.Asp2913Glu)
|
rs786201996
|
0.00002
|
|
NM_000059.4(BRCA2):c.9098C>T (p.Thr3033Ile)
|
rs431825374
|
0.00002
|
|
NM_000059.4(BRCA2):c.9270C>T (p.Phe3090=)
|
rs587780873
|
0.00002
|
|
NM_000059.4(BRCA2):c.9383G>A (p.Arg3128Gln)
|
rs397507427
|
0.00002
|
|
NM_000059.4(BRCA2):c.9501+4A>G
|
rs81002848
|
0.00002
|
|
NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu)
|
rs80359241
|
0.00002
|
|
NM_000059.4(BRCA2):c.9838C>T (p.Pro3280Ser)
|
rs55835607
|
0.00002
|
|
NM_000059.4(BRCA2):c.9934A>G (p.Ile3312Val)
|
rs80359254
|
0.00002
|
|
NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser)
|
rs76635144
|
0.00002
|
|
NM_000069.3(CACNA1S):c.1466G>A (p.Arg489His)
|
rs553739117
|
0.00002
|
|
NM_000069.3(CACNA1S):c.1519G>A (p.Gly507Ser)
|
rs554729466
|
0.00002
|
|
NM_000069.3(CACNA1S):c.1531A>C (p.Ile511Leu)
|
rs748021245
|
0.00002
|
|
NM_000069.3(CACNA1S):c.1637G>A (p.Ser546Asn)
|
rs373525085
|
0.00002
|
|
NM_000069.3(CACNA1S):c.2407A>G (p.Asn803Asp)
|
rs561979536
|
0.00002
|
|
NM_000069.3(CACNA1S):c.2594G>A (p.Arg865His)
|
rs545411173
|
0.00002
|
|
NM_000069.3(CACNA1S):c.2853+18C>T
|
rs768391679
|
0.00002
|
|
NM_000069.3(CACNA1S):c.3053+19C>G
|
rs372276351
|
0.00002
|
|
NM_000069.3(CACNA1S):c.3530A>T (p.Tyr1177Phe)
|
rs774511818
|
0.00002
|
|
NM_000069.3(CACNA1S):c.4264G>A (p.Val1422Met)
|
rs1224786667
|
0.00002
|
|
NM_000069.3(CACNA1S):c.4501A>G (p.Thr1501Ala)
|
rs373248127
|
0.00002
|
|
NM_000069.3(CACNA1S):c.481G>A (p.Val161Ile)
|
rs138265497
|
0.00002
|
|
NM_000069.3(CACNA1S):c.5575G>A (p.Asp1859Asn)
|
rs191263754
|
0.00002
|
|
NM_000069.3(CACNA1S):c.707C>T (p.Thr236Met)
|
rs767790285
|
0.00002
|
|
NM_000069.3(CACNA1S):c.708G>C (p.Thr236=)
|
rs754213830
|
0.00002
|
|
NM_000069.3(CACNA1S):c.835G>A (p.Gly279Ser)
|
rs375704313
|
0.00002
|
|
NM_000070.3(CAPN3):c.1302C>T (p.Asn434=)
|
rs751429914
|
0.00002
|
|
NM_000070.3(CAPN3):c.1422G>A (p.Ser474=)
|
rs367855757
|
0.00002
|
|
NM_000075.4(CDK4):c.661G>A (p.Asp221Asn)
|
rs587778187
|
0.00002
|
|
NM_000075.4(CDK4):c.763C>T (p.Arg255Cys)
|
rs587778188
|
0.00002
|
|
NM_000077.5(CDKN2A):c.198C>T (p.His66=)
|
rs374984975
|
0.00002
|
|
NM_000077.5(CDKN2A):c.342C>G (p.Pro114=)
|
rs878853648
|
0.00002
|
|
NM_000088.4(COL1A1):c.3680G>A (p.Arg1227His)
|
rs543809032
|
0.00002
|
|
NM_000089.4(COL1A2):c.2753A>G (p.Asn918Ser)
|
rs201052196
|
0.00002
|
|
NM_000090.4(COL3A1):c.2287C>T (p.Pro763Ser)
|
rs771671892
|
0.00002
|
|
NM_000090.4(COL3A1):c.4020C>T (p.Tyr1340=)
|
rs766750333
|
0.00002
|
|
NM_000090.4(COL3A1):c.599A>C (p.Gln200Pro)
|
rs780921226
|
0.00002
|
|
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu)
|
rs534253913
|
0.00002
|
|
NM_000091.5(COL4A3):c.4027+10C>T
|
rs778737711
|
0.00002
|
|
NM_000091.5(COL4A3):c.964T>C (p.Leu322=)
|
rs1213929853
|
0.00002
|
|
NM_000092.5(COL4A4):c.110A>G (p.Tyr37Cys)
|
rs750707504
|
0.00002
|
|
NM_000092.5(COL4A4):c.1560T>G (p.Pro520=)
|
rs374935235
|
0.00002
|
|
NM_000092.5(COL4A4):c.1893A>G (p.Gly631=)
|
rs370886041
|
0.00002
|
|
NM_000092.5(COL4A4):c.3355A>G (p.Arg1119Gly)
|
rs778458961
|
0.00002
|
|
NM_000092.5(COL4A4):c.372+7A>G
|
rs1483461114
|
0.00002
|
|
NM_000092.5(COL4A4):c.3859C>G (p.Leu1287Val)
|
rs571869797
|
0.00002
|
|
NM_000092.5(COL4A4):c.4264G>A (p.Val1422Ile)
|
rs368105222
|
0.00002
|
|
NM_000093.5(COL5A1):c.2635C>A (p.Gln879Lys)
|
rs758475317
|
0.00002
|
|
NM_000093.5(COL5A1):c.4794C>T (p.Gly1598=)
|
rs863223481
|
0.00002
|
|
NM_000093.5(COL5A1):c.5371-8T>C
|
rs1352923765
|
0.00002
|
|
NM_000093.5(COL5A1):c.5437G>A (p.Val1813Met)
|
rs755914340
|
0.00002
|
|
NM_000094.4(COL7A1):c.2249C>T (p.Thr750Met)
|
rs377763372
|
0.00002
|
|
NM_000094.4(COL7A1):c.2734C>T (p.Leu912=)
|
rs773201784
|
0.00002
|
|
NM_000094.4(COL7A1):c.3565A>G (p.Met1189Val)
|
rs546776797
|
0.00002
|
|
NM_000094.4(COL7A1):c.4636-9T>C
|
rs760840151
|
0.00002
|
|
NM_000094.4(COL7A1):c.477T>C (p.Ala159=)
|
rs910778254
|
0.00002
|
|
NM_000094.4(COL7A1):c.5532+8T>C
|
rs1321882939
|
0.00002
|
|
NM_000094.4(COL7A1):c.5701-10C>T
|
rs1471404340
|
0.00002
|
|
NM_000094.4(COL7A1):c.6045G>A (p.Gly2015=)
|
rs934784670
|
0.00002
|
|
NM_000096.4(CP):c.229G>C (p.Asp77His)
|
rs200683433
|
0.00002
|
|
NM_000096.4(CP):c.2310G>A (p.Lys770=)
|
rs553883583
|
0.00002
|
|
NM_000098.3(CPT2):c.1645+7C>T
|
rs200596483
|
0.00002
|
|
NM_000098.3(CPT2):c.340+10C>G
|
rs781682674
|
0.00002
|
|
NM_000101.4(CYBA):c.528G>A (p.Ala176=)
|
rs762277251
|
0.00002
|
|
NM_000103.4(CYP19A1):c.1113C>T (p.Asp371=)
|
rs774007712
|
0.00002
|
|
NM_000108.5(DLD):c.1503G>A (p.Ala501=)
|
rs766286119
|
0.00002
|
|
NM_000108.5(DLD):c.597A>T (p.Thr199=)
|
rs768248572
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr)
|
rs200405157
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=)
|
rs782564325
|
0.00002
|
|
NM_000117.3(EMD):c.662G>T (p.Arg221Leu)
|
rs782057378
|
0.00002
|
|
NM_000123.4(ERCC5):c.3428C>T (p.Ala1143Val)
|
rs376411022
|
0.00002
|
|
NM_000127.3(EXT1):c.1360G>A (p.Val454Ile)
|
rs201504622
|
0.00002
|
|
NM_000127.3(EXT1):c.210A>G (p.Gln70=)
|
rs367543871
|
0.00002
|
|
NM_000127.3(EXT1):c.2148G>A (p.Pro716=)
|
rs757499157
|
0.00002
|
|
NM_000128.4(F11):c.696T>C (p.His232=)
|
rs746382259
|
0.00002
|
|
NM_000130.5(F5):c.3402C>A (p.Asp1134Glu)
|
rs373880789
|
0.00002
|
|
NM_000135.4(FANCA):c.1038G>C (p.Trp346Cys)
|
rs750257902
|
0.00002
|
|
NM_000135.4(FANCA):c.1087T>C (p.Phe363Leu)
|
rs531100141
|
0.00002
|
|
NM_000135.4(FANCA):c.1226-12G>C
|
rs36011345
|
0.00002
|
|
NM_000135.4(FANCA):c.1237C>T (p.Arg413Cys)
|
rs780135578
|
0.00002
|
|
NM_000135.4(FANCA):c.1567-11C>A
|
rs34353618
|
0.00002
|
|
NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys)
|
rs587778312
|
0.00002
|
|
NM_000135.4(FANCA):c.2109G>C (p.Gln703His)
|
rs371458363
|
0.00002
|
|
NM_000135.4(FANCA):c.2383A>G (p.Arg795Gly)
|
rs767455904
|
0.00002
|
|
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser)
|
rs762439008
|
0.00002
|
|
NM_000135.4(FANCA):c.2622A>G (p.Arg874=)
|
rs1441752228
|
0.00002
|
|
NM_000135.4(FANCA):c.2667C>T (p.Ala889=)
|
rs771425634
|
0.00002
|
|
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys)
|
rs777825824
|
0.00002
|
|
NM_000135.4(FANCA):c.3429G>A (p.Leu1143=)
|
rs146062039
|
0.00002
|
|
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met)
|
rs142833057
|
0.00002
|
|
NM_000135.4(FANCA):c.386C>T (p.Ala129Val)
|
rs577625130
|
0.00002
|
|
NM_000135.4(FANCA):c.4037C>T (p.Ala1346Val)
|
rs201886956
|
0.00002
|
|
NM_000135.4(FANCA):c.4117A>G (p.Thr1373Ala)
|
rs753944130
|
0.00002
|
|
NM_000135.4(FANCA):c.4252G>A (p.Val1418Met)
|
rs145148206
|
0.00002
|
|
NM_000135.4(FANCA):c.4294G>T (p.Val1432Leu)
|
rs769243354
|
0.00002
|
|
NM_000135.4(FANCA):c.604G>A (p.Asp202Asn)
|
rs779131886
|
0.00002
|
|
NM_000135.4(FANCA):c.778G>A (p.Glu260Lys)
|
rs201992220
|
0.00002
|
|
NM_000135.4(FANCA):c.837C>T (p.Asp279=)
|
rs752311383
|
0.00002
|
|
NM_000135.4(FANCA):c.87G>A (p.Arg29=)
|
rs760787108
|
0.00002
|
|
NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg)
|
rs201063698
|
0.00002
|
|
NM_000137.4(FAH):c.391C>T (p.Arg131Trp)
|
rs147946196
|
0.00002
|
|
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln)
|
rs775489067
|
0.00002
|
|
NM_000138.5(FBN1):c.1562G>A (p.Ser521Asn)
|
rs749253325
|
0.00002
|
|
NM_000138.5(FBN1):c.1961-7T>C
|
rs878853675
|
0.00002
|
|
NM_000138.5(FBN1):c.2547C>G (p.Ile849Met)
|
rs778258207
|
0.00002
|
|
NM_000138.5(FBN1):c.2950G>A (p.Val984Ile)
|
rs747713929
|
0.00002
|
|
NM_000138.5(FBN1):c.3359A>T (p.Asp1120Val)
|
rs1183556572
|
0.00002
|
|
NM_000138.5(FBN1):c.3410G>A (p.Arg1137His)
|
rs137854456
|
0.00002
|
|
NM_000138.5(FBN1):c.3785G>A (p.Arg1262Lys)
|
rs371103773
|
0.00002
|
|
NM_000138.5(FBN1):c.4336+4A>C
|
rs764099050
|
0.00002
|
|
NM_000138.5(FBN1):c.4337-3A>C
|
rs770551687
|
0.00002
|
|
NM_000138.5(FBN1):c.4999G>A (p.Val1667Ile)
|
rs140626
|
0.00002
|
|
NM_000138.5(FBN1):c.5918-12T>G
|
rs751115639
|
0.00002
|
|
NM_000138.5(FBN1):c.6180C>T (p.Tyr2060=)
|
rs974604498
|
0.00002
|
|
NM_000138.5(FBN1):c.6616+5A>G
|
rs1381778697
|
0.00002
|
|
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg)
|
rs770839761
|
0.00002
|
|
NM_000138.5(FBN1):c.7501G>C (p.Val2501Leu)
|
rs371110611
|
0.00002
|
|
NM_000141.5(FGFR2):c.2040C>T (p.Tyr680=)
|
rs751495618
|
0.00002
|
|
NM_000141.5(FGFR2):c.2106G>A (p.Ser702=)
|
rs794727163
|
0.00002
|
|
NM_000142.5(FGFR3):c.1205C>G (p.Pro402Arg)
|
rs752194597
|
0.00002
|
|
NM_000142.5(FGFR3):c.1576A>G (p.Met526Val)
|
rs766053734
|
0.00002
|
|
NM_000142.5(FGFR3):c.2418G>A (p.Thr806=)
|
rs779088139
|
0.00002
|
|
NM_000147.5(FUCA1):c.1260+7A>C
|
rs771229488
|
0.00002
|
|
NM_000152.5(GAA):c.1053G>T (p.Val351=)
|
rs773063199
|
0.00002
|
|
NM_000152.5(GAA):c.1083G>A (p.Pro361=)
|
rs781379047
|
0.00002
|
|
NM_000152.5(GAA):c.1275G>A (p.Pro425=)
|
rs762826072
|
0.00002
|
|
NM_000152.5(GAA):c.1560C>T (p.Asn520=)
|
rs116322271
|
0.00002
|
|
NM_000152.5(GAA):c.1881C>T (p.Ser627=)
|
rs779328815
|
0.00002
|
|
NM_000152.5(GAA):c.216C>T (p.Pro72=)
|
rs753287841
|
0.00002
|
|
NM_000152.5(GAA):c.309C>T (p.Cys103=)
|
rs373307393
|
0.00002
|
|
NM_000152.5(GAA):c.67A>G (p.Thr23Ala)
|
rs2289537
|
0.00002
|
|
NM_000152.5(GAA):c.687C>T (p.Arg229=)
|
rs149814041
|
0.00002
|
|
NM_000152.5(GAA):c.705G>A (p.Thr235=)
|
rs2304846
|
0.00002
|
|
NM_000153.4(GALC):c.1587G>A (p.Thr529=)
|
rs184748969
|
0.00002
|
|
NM_000153.4(GALC):c.318G>A (p.Gly106=)
|
rs886050867
|
0.00002
|
|
NM_000153.4(GALC):c.583-4G>T
|
rs751820306
|
0.00002
|
|
NM_000156.6(GAMT):c.189G>C (p.Arg63=)
|
rs568392459
|
0.00002
|
|
NM_000156.6(GAMT):c.225G>A (p.Ala75=)
|
rs202151546
|
0.00002
|
|
NM_000158.4(GBE1):c.1204A>G (p.Thr402Ala)
|
rs757297254
|
0.00002
|
|
NM_000158.4(GBE1):c.556-6C>T
|
rs754051144
|
0.00002
|
|
NM_000159.4(GCDH):c.1083-10C>T
|
rs756372984
|
0.00002
|
|
NM_000162.5(GCK):c.-452G>A
|
rs187173652
|
0.00002
|
|
NM_000163.5(GHR):c.206C>T (p.Thr69Ile)
|
rs75028043
|
0.00002
|
|
NM_000166.6(GJB1):c.-27C>T
|
rs879254157
|
0.00002
|
|
NM_000166.6(GJB1):c.699G>A (p.Ser233=)
|
rs769112084
|
0.00002
|
|
NM_000169.3(GLA):c.196G>C (p.Glu66Gln)
|
rs104894833
|
0.00002
|
|
NM_000169.3(GLA):c.320A>G (p.Gln107Arg)
|
rs727505060
|
0.00002
|
|
NM_000169.3(GLA):c.991C>T (p.Leu331Phe)
|
rs730880437
|
0.00002
|
|
NM_000179.3(MSH6):c.2511C>G (p.His837Gln)
|
rs587779925
|
0.00002
|
|
NM_000179.3(MSH6):c.257C>T (p.Thr86Ile)
|
rs768444916
|
0.00002
|
|
NM_000179.3(MSH6):c.2664G>C (p.Lys888Asn)
|
rs730881798
|
0.00002
|
|
NM_000179.3(MSH6):c.2857G>A (p.Glu953Lys)
|
rs753034685
|
0.00002
|
|
NM_000179.3(MSH6):c.3244C>T (p.Pro1082Ser)
|
rs186240214
|
0.00002
|
|
NM_000179.3(MSH6):c.3801+4T>C
|
rs758830540
|
0.00002
|
|
NM_000179.3(MSH6):c.3832C>A (p.Pro1278Thr)
|
rs587782109
|
0.00002
|
|
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met)
|
rs63750836
|
0.00002
|
|
NM_000179.3(MSH6):c.476C>T (p.Ala159Val)
|
rs587778528
|
0.00002
|
|
NM_000182.5(HADHA):c.1794T>C (p.His598=)
|
rs149021400
|
0.00002
|
|
NM_000186.4(CFH):c.3156C>T (p.Pro1052=)
|
rs764539113
|
0.00002
|
|
NM_000191.3(HMGCL):c.828G>A (p.Leu276=)
|
rs771024022
|
0.00002
|
|
NM_000199.5(SGSH):c.1371T>C (p.Phe457=)
|
rs867660906
|
0.00002
|
|
NM_000199.5(SGSH):c.153C>T (p.Asp51=)
|
rs372226239
|
0.00002
|
|
NM_000199.5(SGSH):c.537C>T (p.Asp179=)
|
rs771440037
|
0.00002
|
|
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val)
|
rs527336882
|
0.00002
|
|
NM_000203.5(IDUA):c.237C>T (p.Ala79=)
|
rs769676234
|
0.00002
|
|
NM_000203.5(IDUA):c.793-5C>T
|
rs773072991
|
0.00002
|
|
NM_000206.3(IL2RG):c.1061A>G (p.His354Arg)
|
rs771221019
|
0.00002
|
|
NM_000206.3(IL2RG):c.1076C>T (p.Ala359Val)
|
rs767383120
|
0.00002
|
|
NM_000207.3(INS):c.202C>A (p.Leu68Met)
|
rs121908279
|
0.00002
|
|
NM_000211.5(ITGB2):c.1125C>T (p.Pro375=)
|
rs754762370
|
0.00002
|
|
NM_000211.5(ITGB2):c.59-9G>A
|
rs141780263
|
0.00002
|
|
NM_000213.5(ITGB4):c.5301C>T (p.His1767=)
|
rs963564866
|
0.00002
|
|
NM_000214.3(JAG1):c.2199C>T (p.Gly733=)
|
rs756062969
|
0.00002
|
|
NM_000214.3(JAG1):c.2739C>T (p.Ser913=)
|
rs766479402
|
0.00002
|
|
NM_000214.3(JAG1):c.489C>T (p.Pro163=)
|
rs376298235
|
0.00002
|
|
NM_000215.4(JAK3):c.114C>A (p.Pro38=)
|
rs1448668382
|
0.00002
|
|
NM_000215.4(JAK3):c.1653A>G (p.Thr551=)
|
rs201698409
|
0.00002
|
|
NM_000215.4(JAK3):c.2692C>T (p.Leu898=)
|
rs202043320
|
0.00002
|
|
NM_000218.3(KCNQ1):c.1128+5G>A
|
rs76735093
|
0.00002
|
|
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile)
|
rs750409379
|
0.00002
|
|
NM_000218.3(KCNQ1):c.878G>A (p.Arg293His)
|
rs199473465
|
0.00002
|
|
NM_000222.3(KIT):c.829A>G (p.Ile277Val)
|
rs757547974
|
0.00002
|
|
NM_000228.3(LAMB3):c.2556+7G>A
|
rs201280220
|
0.00002
|
|
NM_000235.4(LIPA):c.1077G>A (p.Gln359=)
|
rs538507117
|
0.00002
|
|
NM_000238.4(KCNH2):c.2331C>T (p.Thr777=)
|
rs41307292
|
0.00002
|
|
NM_000238.4(KCNH2):c.2759G>A (p.Arg920Gln)
|
rs199473670
|
0.00002
|
|
NM_000238.4(KCNH2):c.2887C>A (p.Pro963Thr)
|
rs199473014
|
0.00002
|
|
NM_000243.3(MEFV):c.1061G>A (p.Arg354Gln)
|
rs763015849
|
0.00002
|
|
NM_000243.3(MEFV):c.1082G>C (p.Arg361Thr)
|
rs190405488
|
0.00002
|
|
NM_000243.3(MEFV):c.1089C>T (p.Ser363=)
|
rs104895170
|
0.00002
|
|
NM_000243.3(MEFV):c.1898C>T (p.Pro633Leu)
|
rs976279218
|
0.00002
|
|
NM_000243.3(MEFV):c.192G>A (p.Glu64=)
|
rs547393490
|
0.00002
|
|
NM_000243.3(MEFV):c.344C>G (p.Pro115Arg)
|
rs201766654
|
0.00002
|
|
NM_000245.4(MET):c.1234C>T (p.Arg412Cys)
|
rs367628460
|
0.00002
|
|
NM_000245.4(MET):c.1640G>A (p.Arg547Gln)
|
rs761951444
|
0.00002
|
|
NM_000245.4(MET):c.4145G>A (p.Arg1382Gln)
|
rs752694306
|
0.00002
|
|
NM_000246.4(CIITA):c.1527C>T (p.Gly509=)
|
rs1427227633
|
0.00002
|
|
NM_000246.4(CIITA):c.2343G>A (p.Ser781=)
|
rs749019138
|
0.00002
|
|
NM_000246.4(CIITA):c.3207G>A (p.Pro1069=)
|
rs772387879
|
0.00002
|
|
NM_000246.4(CIITA):c.3318-8C>G
|
rs201115726
|
0.00002
|
|
NM_000249.4(MLH1):c.1577A>G (p.His526Arg)
|
rs1304802474
|
0.00002
|
|
NM_000249.4(MLH1):c.1872C>T (p.Asp624=)
|
rs145535636
|
0.00002
|
|
NM_000249.4(MLH1):c.595G>C (p.Glu199Gln)
|
rs63749887
|
0.00002
|
|
NM_000249.4(MLH1):c.776T>C (p.Leu259Ser)
|
rs56250509
|
0.00002
|
|
NM_000249.4(MLH1):c.925C>T (p.Pro309Ser)
|
rs267607808
|
0.00002
|
|
NM_000249.4(MLH1):c.928A>G (p.Thr310Ala)
|
rs779581111
|
0.00002
|
|
NM_000249.4(MLH1):c.974G>A (p.Arg325Gln)
|
rs63750268
|
0.00002
|
|
NM_000251.3(MSH2):c.1032G>C (p.Gln344His)
|
rs375799148
|
0.00002
|
|
NM_000251.3(MSH2):c.1070A>C (p.Glu357Ala)
|
rs150503781
|
0.00002
|
|
NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu)
|
rs374135434
|
0.00002
|
|
NM_000251.3(MSH2):c.1276+7A>G
|
rs748554540
|
0.00002
|
|
NM_000251.3(MSH2):c.1510+11G>C
|
rs370675562
|
0.00002
|
|
NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys)
|
rs63750328
|
0.00002
|
|
NM_000251.3(MSH2):c.1937A>C (p.Asp646Ala)
|
rs41295290
|
0.00002
|
|
NM_000251.3(MSH2):c.2009C>T (p.Pro670Leu)
|
rs41294982
|
0.00002
|
|
NM_000251.3(MSH2):c.2309T>C (p.Ile770Thr)
|
rs371718349
|
0.00002
|
|
NM_000251.3(MSH2):c.2379G>T (p.Gln793His)
|
rs767520406
|
0.00002
|
|
NM_000251.3(MSH2):c.2551C>A (p.Leu851Ile)
|
rs267608015
|
0.00002
|
|
NM_000251.3(MSH2):c.2621A>G (p.Tyr874Cys)
|
rs775390721
|
0.00002
|
|
NM_000251.3(MSH2):c.2635-11A>G
|
rs201291595
|
0.00002
|
|
NM_000251.3(MSH2):c.2717T>C (p.Ile906Thr)
|
rs587780687
|
0.00002
|
|
NM_000251.3(MSH2):c.2786G>A (p.Arg929Gln)
|
rs587779967
|
0.00002
|
|
NM_000251.3(MSH2):c.304G>A (p.Val102Ile)
|
rs193922373
|
0.00002
|
|
NM_000251.3(MSH2):c.368C>G (p.Ala123Gly)
|
rs730881767
|
0.00002
|
|
NM_000251.3(MSH2):c.51C>A (p.Val17=)
|
rs397515879
|
0.00002
|
|
NM_000251.3(MSH2):c.581T>C (p.Ile194Thr)
|
rs730881778
|
0.00002
|
|
NM_000251.3(MSH2):c.703A>G (p.Lys235Glu)
|
rs749442037
|
0.00002
|
|
NM_000251.3(MSH2):c.792+5A>G
|
rs267607935
|
0.00002
|
|
NM_000251.3(MSH2):c.80C>T (p.Pro27Leu)
|
rs750746034
|
0.00002
|
|
NM_000251.3(MSH2):c.855C>G (p.Asn285Lys)
|
rs759242666
|
0.00002
|
|
NM_000251.3(MSH2):c.938T>C (p.Phe313Ser)
|
rs780656204
|
0.00002
|
|
NM_000251.3(MSH2):c.943-6T>C
|
rs768644134
|
0.00002
|
|
NM_000251.3(MSH2):c.964G>A (p.Gly322Ser)
|
rs773301485
|
0.00002
|
|
NM_000252.3(MTM1):c.528+7T>C
|
rs782460237
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1351+4G>A
|
rs777487971
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=)
|
rs397515929
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His)
|
rs727503191
|
0.00002
|
|
NM_000256.3(MYBPC3):c.2877G>A (p.Thr959=)
|
rs727503181
|
0.00002
|
|
NM_000256.3(MYBPC3):c.502G>A (p.Val168Met)
|
rs569740494
|
0.00002
|
|
NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys)
|
rs397516063
|
0.00002
|
|
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His)
|
rs727504396
|
0.00002
|
|
NM_000256.3(MYBPC3):c.75C>T (p.Ser25=)
|
rs1368122828
|
0.00002
|
|
NM_000257.4(MYH7):c.154G>A (p.Val52Met)
|
rs730880919
|
0.00002
|
|
NM_000257.4(MYH7):c.350A>T (p.Tyr117Phe)
|
rs201012865
|
0.00002
|
|
NM_000257.4(MYH7):c.3637G>A (p.Val1213Met)
|
rs397516182
|
0.00002
|
|
NM_000257.4(MYH7):c.3803G>A (p.Arg1268His)
|
rs397516194
|
0.00002
|
|
NM_000257.4(MYH7):c.3854-5C>T
|
rs752385694
|
0.00002
|
|
NM_000257.4(MYH7):c.4557C>T (p.Ser1519=)
|
rs150552664
|
0.00002
|
|
NM_000257.4(MYH7):c.4908C>T (p.Ala1636=)
|
rs150241539
|
0.00002
|
|
NM_000257.4(MYH7):c.5704G>C (p.Glu1902Gln)
|
rs187073962
|
0.00002
|
|
NM_000257.4(MYH7):c.733-3C>T
|
rs765068619
|
0.00002
|
|
NM_000258.3(MYL3):c.532G>A (p.Asp178Asn)
|
rs145520567
|
0.00002
|
|
NM_000260.4(MYO7A):c.1142C>T (p.Thr381Met)
|
rs782681743
|
0.00002
|
|
NM_000260.4(MYO7A):c.1209C>T (p.Tyr403=)
|
rs782397746
|
0.00002
|
|
NM_000260.4(MYO7A):c.2149G>A (p.Asp717Asn)
|
rs782696212
|
0.00002
|
|
NM_000260.4(MYO7A):c.3503+10G>A
|
rs782049232
|
0.00002
|
|
NM_000260.4(MYO7A):c.3583G>A (p.Val1195Met)
|
rs781958107
|
0.00002
|
|
NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=)
|
rs372535399
|
0.00002
|
|
NM_000260.4(MYO7A):c.5004C>T (p.Tyr1668=)
|
rs1479835169
|
0.00002
|
|
NM_000260.4(MYO7A):c.5166C>T (p.Phe1722=)
|
rs566614598
|
0.00002
|
|
NM_000260.4(MYO7A):c.5195G>A (p.Arg1732His)
|
rs760544219
|
0.00002
|
|
NM_000260.4(MYO7A):c.5327-10C>T
|
rs781062618
|
0.00002
|
|
NM_000260.4(MYO7A):c.5547C>A (p.Ile1849=)
|
rs548939171
|
0.00002
|
|
NM_000264.5(PTCH1):c.1049G>A (p.Ser350Asn)
|
rs779294007
|
0.00002
|
|
NM_000264.5(PTCH1):c.1120G>A (p.Glu374Lys)
|
rs144323077
|
0.00002
|
|
NM_000264.5(PTCH1):c.2105C>G (p.Pro702Arg)
|
rs368362152
|
0.00002
|
|
NM_000264.5(PTCH1):c.3066C>T (p.Ile1022=)
|
rs755755175
|
0.00002
|
|
NM_000264.5(PTCH1):c.3913G>T (p.Asp1305Tyr)
|
rs368528885
|
0.00002
|
|
NM_000264.5(PTCH1):c.4034G>A (p.Arg1345His)
|
rs766315655
|
0.00002
|
|
NM_000264.5(PTCH1):c.4313A>G (p.Glu1438Gly)
|
rs150696398
|
0.00002
|
|
NM_000264.5(PTCH1):c.521C>T (p.Ala174Val)
|
rs772368023
|
0.00002
|
|
NM_000264.5(PTCH1):c.901G>A (p.Asp301Asn)
|
rs767601899
|
0.00002
|
|
NM_000268.4(NF2):c.599+3G>A
|
rs768301915
|
0.00002
|
|
NM_000268.4(NF2):c.600-13G>A
|
rs374509697
|
0.00002
|
|
NM_000271.5(NPC1):c.1819C>A (p.Arg607=)
|
rs377130051
|
0.00002
|
|
NM_000271.5(NPC1):c.2337C>T (p.Phe779=)
|
rs367654655
|
0.00002
|
|
NM_000271.5(NPC1):c.2347T>C (p.Leu783=)
|
rs200384578
|
0.00002
|
|
NM_000274.4(OAT):c.1245G>A (p.Ala415=)
|
rs751449034
|
0.00002
|
|
NM_000274.4(OAT):c.477C>T (p.Thr159=)
|
rs575839041
|
0.00002
|
|
NM_000276.4(OCRL):c.2066G>A (p.Arg689His)
|
rs748186190
|
0.00002
|
|
NM_000277.3(PAH):c.1065+39G>T
|
rs62510582
|
0.00002
|
|
NM_000277.3(PAH):c.442-14C>T
|
rs775806999
|
0.00002
|
|
NM_000277.3(PAH):c.870T>C (p.His290=)
|
rs751203209
|
0.00002
|
|
NM_000282.4(PCCA):c.638-5G>A
|
rs764316702
|
0.00002
|
|
NM_000286.3(PEX12):c.570A>G (p.Ser190=)
|
rs758132842
|
0.00002
|
|
NM_000290.4(PGAM2):c.252T>C (p.Thr84=)
|
rs755125202
|
0.00002
|
|
NM_000291.4(PGK1):c.929G>A (p.Gly310Asp)
|
rs201238498
|
0.00002
|
|
NM_000295.5(SERPINA1):c.1065+6A>T
|
rs79078626
|
0.00002
|
|
NM_000302.4(PLOD1):c.1902+9G>T
|
rs200395169
|
0.00002
|
|
NM_000302.4(PLOD1):c.742-6C>T
|
rs569632202
|
0.00002
|
|
NM_000310.4(PPT1):c.537-12T>C
|
rs1057515556
|
0.00002
|
|
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly)
|
rs587781273
|
0.00002
|
|
NM_000314.8(PTEN):c.261A>G (p.Gln87=)
|
rs149772796
|
0.00002
|
|
NM_000317.3(PTS):c.186+9A>G
|
rs202139885
|
0.00002
|
|
NM_000318.3(PEX2):c.174G>A (p.Ala58=)
|
rs150987080
|
0.00002
|
|
NM_000318.3(PEX2):c.892G>A (p.Glu298Lys)
|
rs544763390
|
0.00002
|
|
NM_000321.3(RB1):c.2518G>A (p.Gly840Arg)
|
rs374157786
|
0.00002
|
|
NM_000321.3(RB1):c.354T>A (p.Thr118=)
|
rs951251256
|
0.00002
|
|
NM_000321.3(RB1):c.761G>A (p.Arg254Lys)
|
rs200674097
|
0.00002
|
|
NM_000321.3(RB1):c.850A>G (p.Asn284Asp)
|
rs761609284
|
0.00002
|
|
NM_000329.3(RPE65):c.353+7G>A
|
rs773557127
|
0.00002
|
|
NM_000330.4(RS1):c.184+3119G>A
|
rs762576315
|
0.00002
|
|
NM_000330.4(RS1):c.185-3188G>A
|
rs267608665
|
0.00002
|
|
NM_000334.4(SCN4A):c.2500G>A (p.Gly834Ser)
|
rs899627353
|
0.00002
|
|
NM_000334.4(SCN4A):c.2861C>T (p.Pro954Leu)
|
rs201367621
|
0.00002
|
|
NM_000334.4(SCN4A):c.4052C>T (p.Thr1351Met)
|
rs545724550
|
0.00002
|
|
NM_000335.5(SCN5A):c.1035C>T (p.Gly345=)
|
rs764026969
|
0.00002
|
|
NM_000335.5(SCN5A):c.158G>A (p.Arg53Gln)
|
rs199473049
|
0.00002
|
|
NM_000335.5(SCN5A):c.2001C>T (p.Ser667=)
|
rs587781161
|
0.00002
|
|
NM_000335.5(SCN5A):c.2014G>A (p.Ala672Thr)
|
rs199473140
|
0.00002
|
|
NM_000335.5(SCN5A):c.2039G>A (p.Arg680His)
|
rs199473142
|
0.00002
|
|
NM_000335.5(SCN5A):c.2141T>C (p.Val714Ala)
|
rs759036311
|
0.00002
|
|
NM_000335.5(SCN5A):c.3316G>A (p.Glu1106Lys)
|
rs199473193
|
0.00002
|
|
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=)
|
rs561922849
|
0.00002
|
|
NM_000335.5(SCN5A):c.3732G>A (p.Met1244Ile)
|
rs753677814
|
0.00002
|
|
NM_000335.5(SCN5A):c.3795C>T (p.Tyr1265=)
|
rs371610895
|
0.00002
|
|
NM_000335.5(SCN5A):c.436G>A (p.Val146Met)
|
rs199473061
|
0.00002
|
|
NM_000335.5(SCN5A):c.495C>T (p.Thr165=)
|
rs62242804
|
0.00002
|
|
NM_000336.3(SCNN1B):c.1663C>T (p.Leu555=)
|
rs779990343
|
0.00002
|
|
NM_000337.6(SGCD):c.193-7A>G
|
rs747018859
|
0.00002
|
|
NM_000342.4(SLC4A1):c.1284A>G (p.Gly428=)
|
rs387907516
|
0.00002
|
|
NM_000342.4(SLC4A1):c.202G>A (p.Glu68Lys)
|
rs13306787
|
0.00002
|
|
NM_000343.4(SLC5A1):c.1725G>A (p.Ala575=)
|
rs368853644
|
0.00002
|
|
NM_000350.3(ABCA4):c.1538T>C (p.Val513Ala)
|
rs750393418
|
0.00002
|
|
NM_000350.3(ABCA4):c.3063T>G (p.Ala1021=)
|
rs886046565
|
0.00002
|
|
NM_000350.3(ABCA4):c.3449G>A (p.Cys1150Tyr)
|
rs375783686
|
0.00002
|
|
NM_000350.3(ABCA4):c.3540G>A (p.Ser1180=)
|
rs767212006
|
0.00002
|
|
NM_000350.3(ABCA4):c.3867C>T (p.Gly1289=)
|
rs573418899
|
0.00002
|
|
NM_000350.3(ABCA4):c.4194C>T (p.Gly1398=)
|
rs763857670
|
0.00002
|
|
NM_000350.3(ABCA4):c.6579C>T (p.Phe2193=)
|
rs763108716
|
0.00002
|
|
NM_000352.6(ABCC8):c.291-3C>T
|
rs764107333
|
0.00002
|
|
NM_000352.6(ABCC8):c.3960C>T (p.Thr1320=)
|
rs137868047
|
0.00002
|
|
NM_000352.6(ABCC8):c.4104C>T (p.Ile1368=)
|
rs1345535328
|
0.00002
|
|
NM_000352.6(ABCC8):c.4581C>T (p.Phe1527=)
|
rs773042150
|
0.00002
|
|
NM_000360.4(TH):c.1422C>T (p.Ala474=)
|
rs375735482
|
0.00002
|
|
NM_000360.4(TH):c.216C>T (p.Ala72=)
|
rs773288225
|
0.00002
|
|
NM_000360.4(TH):c.360G>A (p.Arg120=)
|
rs761868828
|
0.00002
|
|
NM_000363.5(TNNI3):c.151-6C>G
|
rs377258542
|
0.00002
|
|
NM_000365.6(TPI1):c.543+5C>G
|
rs782153322
|
0.00002
|
|
NM_000368.5(TSC1):c.1328G>T (p.Gly443Val)
|
rs1489175329
|
0.00002
|
|
NM_000368.5(TSC1):c.1678G>A (p.Gly560Ser)
|
rs746304922
|
0.00002
|
|
NM_000368.5(TSC1):c.1685C>G (p.Ala562Gly)
|
rs377185303
|
0.00002
|
|
NM_000368.5(TSC1):c.2030C>T (p.Thr677Ile)
|
rs779584449
|
0.00002
|
|
NM_000368.5(TSC1):c.2065C>T (p.Arg689Cys)
|
rs202241429
|
0.00002
|
|
NM_000368.5(TSC1):c.2077G>C (p.Asp693His)
|
rs397514800
|
0.00002
|
|
NM_000368.5(TSC1):c.2115G>A (p.Glu705=)
|
rs142662480
|
0.00002
|
|
NM_000368.5(TSC1):c.2323C>T (p.Leu775Phe)
|
rs868755168
|
0.00002
|
|
NM_000368.5(TSC1):c.3080G>A (p.Arg1027Gln)
|
rs796053461
|
0.00002
|
|
NM_000368.5(TSC1):c.3172C>A (p.Pro1058Thr)
|
rs112066743
|
0.00002
|
|
NM_000368.5(TSC1):c.340C>T (p.Pro114Ser)
|
rs779395169
|
0.00002
|
|
NM_000368.5(TSC1):c.379G>A (p.Val127Ile)
|
rs372215435
|
0.00002
|
|
NM_000368.5(TSC1):c.569G>A (p.Arg190His)
|
rs118203402
|
0.00002
|
|
NM_000368.5(TSC1):c.720T>G (p.His240Gln)
|
rs779872953
|
0.00002
|
|
NM_000368.5(TSC1):c.89A>G (p.Lys30Arg)
|
rs796053452
|
0.00002
|
|
NM_000368.5(TSC1):c.947G>A (p.Arg316Gln)
|
rs375956049
|
0.00002
|
|
NM_000371.4(TTR):c.-3A>G
|
rs745422404
|
0.00002
|
|
NM_000371.4(TTR):c.439G>T (p.Glu147Ter)
|
rs730881162
|
0.00002
|
|
NM_000377.3(WAS):c.1049C>T (p.Ala350Val)
|
rs1307143057
|
0.00002
|
|
NM_000381.4(MID1):c.250G>A (p.Asp84Asn)
|
rs374851071
|
0.00002
|
|
NM_000384.3(APOB):c.10114T>G (p.Ser3372Ala)
|
rs138850232
|
0.00002
|
|
NM_000384.3(APOB):c.1075A>G (p.Ser359Gly)
|
rs757383498
|
0.00002
|
|
NM_000384.3(APOB):c.11309T>G (p.Ile3770Ser)
|
rs199954127
|
0.00002
|
|
NM_000384.3(APOB):c.11339C>T (p.Ala3780Val)
|
rs755025293
|
0.00002
|
|
NM_000384.3(APOB):c.12779A>G (p.His4260Arg)
|
rs781061676
|
0.00002
|
|
NM_000384.3(APOB):c.12851T>C (p.Phe4284Ser)
|
rs750204106
|
0.00002
|
|
NM_000384.3(APOB):c.12890G>A (p.Arg4297His)
|
rs375701380
|
0.00002
|
|
NM_000384.3(APOB):c.13130T>C (p.Ile4377Thr)
|
rs778174655
|
0.00002
|
|
NM_000384.3(APOB):c.2115T>G (p.Phe705Leu)
|
rs747520197
|
0.00002
|
|
NM_000384.3(APOB):c.2821A>T (p.Thr941Ser)
|
rs748256431
|
0.00002
|
|
NM_000384.3(APOB):c.3271A>G (p.Arg1091Gly)
|
rs368122382
|
0.00002
|
|
NM_000384.3(APOB):c.3935T>C (p.Met1312Thr)
|
rs763989940
|
0.00002
|
|
NM_000384.3(APOB):c.4181A>G (p.Asp1394Gly)
|
rs769694008
|
0.00002
|
|
NM_000384.3(APOB):c.4279C>T (p.Arg1427Cys)
|
rs759979553
|
0.00002
|
|
NM_000384.3(APOB):c.4850G>A (p.Gly1617Glu)
|
rs146341569
|
0.00002
|
|
NM_000384.3(APOB):c.5038G>T (p.Ala1680Ser)
|
rs372282063
|
0.00002
|
|
NM_000384.3(APOB):c.544G>A (p.Val182Met)
|
rs769838164
|
0.00002
|
|
NM_000384.3(APOB):c.7727G>A (p.Arg2576His)
|
rs759057929
|
0.00002
|
|
NM_000384.3(APOB):c.9095C>A (p.Thr3032Asn)
|
rs754332101
|
0.00002
|
|
NM_000387.6(SLC25A20):c.719-10T>C
|
rs769684089
|
0.00002
|
|
NM_000387.6(SLC25A20):c.894C>A (p.Thr298=)
|
rs766966542
|
0.00002
|
|
NM_000390.4(CHM):c.1771-8T>C
|
rs912390081
|
0.00002
|
|
NM_000391.4(TPP1):c.1281G>A (p.Thr427=)
|
rs577520250
|
0.00002
|
|
NM_000391.4(TPP1):c.1552-9C>T
|
rs369699167
|
0.00002
|
|
NM_000391.4(TPP1):c.425T>G (p.Val142Gly)
|
rs775217501
|
0.00002
|
|
NM_000391.4(TPP1):c.638C>T (p.Ser213Leu)
|
rs773546205
|
0.00002
|
|
NM_000392.5(ABCC2):c.306C>A (p.Thr102=)
|
rs559908064
|
0.00002
|
|
NM_000392.5(ABCC2):c.4431G>A (p.Thr1477=)
|
rs146718433
|
0.00002
|
|
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu)
|
rs778835151
|
0.00002
|
|
NM_000399.5(EGR2):c.108G>A (p.Val36=)
|
rs746579337
|
0.00002
|
|
NM_000399.5(EGR2):c.1395G>A (p.Pro465=)
|
rs779811073
|
0.00002
|
|
NM_000400.4(ERCC2):c.1665+17C>A
|
rs774329591
|
0.00002
|
|
NM_000414.4(HSD17B4):c.1278A>T (p.Glu426Asp)
|
rs780820166
|
0.00002
|
|
NM_000417.3(IL2RA):c.669G>A (p.Gln223=)
|
rs539966138
|
0.00002
|
|
NM_000419.5(ITGA2B):c.3061-4C>T
|
rs530669664
|
0.00002
|
|
NM_000426.4(LAMA2):c.1495C>T (p.Arg499Cys)
|
rs143626559
|
0.00002
|
|
NM_000426.4(LAMA2):c.3279C>T (p.Cys1093=)
|
rs371376404
|
0.00002
|
|
NM_000426.4(LAMA2):c.4188G>A (p.Pro1396=)
|
rs369076029
|
0.00002
|
|
NM_000426.4(LAMA2):c.4456G>A (p.Ala1486Thr)
|
rs372576669
|
0.00002
|
|
NM_000426.4(LAMA2):c.5072-10C>A
|
rs552989582
|
0.00002
|
|
NM_000426.4(LAMA2):c.6567C>T (p.Ala2189=)
|
rs748650667
|
0.00002
|
|
NM_000426.4(LAMA2):c.7231G>A (p.Val2411Ile)
|
rs199814707
|
0.00002
|
|
NM_000426.4(LAMA2):c.9014C>T (p.Ala3005Val)
|
rs75048006
|
0.00002
|
|
NM_000429.3(MAT1A):c.1059C>T (p.Phe353=)
|
rs777896485
|
0.00002
|
|
NM_000429.3(MAT1A):c.1074C>T (p.Gly358=)
|
rs373567910
|
0.00002
|
|
NM_000429.3(MAT1A):c.642G>A (p.Thr214=)
|
rs539772339
|
0.00002
|
|
NM_000430.4(PAFAH1B1):c.569-4T>G
|
rs765106555
|
0.00002
|
|
NM_000430.4(PAFAH1B1):c.794C>T (p.Thr265Ile)
|
rs769280736
|
0.00002
|
|
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn)
|
rs104895380
|
0.00002
|
|
NM_000432.4(MYL2):c.355G>A (p.Val119Ile)
|
rs730880940
|
0.00002
|
|
NM_000433.4(NCF2):c.196C>A (p.Arg66=)
|
rs750782115
|
0.00002
|
|
NM_000435.3(NOTCH3):c.2450C>T (p.Pro817Leu)
|
rs142405648
|
0.00002
|
|
NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser)
|
rs111033240
|
0.00002
|
|
NM_000443.4(ABCB4):c.201C>T (p.His67=)
|
rs747703354
|
0.00002
|
|
NM_000443.4(ABCB4):c.2811T>C (p.Tyr937=)
|
rs1461886025
|
0.00002
|
|
NM_000443.4(ABCB4):c.3381C>T (p.Ala1127=)
|
rs766402494
|
0.00002
|
|
NM_000443.4(ABCB4):c.54G>A (p.Glu18=)
|
rs141141860
|
0.00002
|
|
NM_000443.4(ABCB4):c.717G>A (p.Ser239=)
|
rs770169131
|
0.00002
|
|
NM_000452.3(SLC10A2):c.246A>G (p.Thr82=)
|
rs761652195
|
0.00002
|
|
NM_000454.5(SOD1):c.66G>A (p.Glu22=)
|
rs756458346
|
0.00002
|
|
NM_000455.5(STK11):c.-9G>A
|
rs770466669
|
0.00002
|
|
NM_000455.5(STK11):c.1108+3G>A
|
rs755746417
|
0.00002
|
|
NM_000455.5(STK11):c.1168G>A (p.Val390Met)
|
rs374078532
|
0.00002
|
|
NM_000455.5(STK11):c.1229C>T (p.Ala410Val)
|
rs372329880
|
0.00002
|
|
NM_000455.5(STK11):c.439C>T (p.Arg147Cys)
|
rs748464757
|
0.00002
|
|
NM_000455.5(STK11):c.464+5G>A
|
rs587781681
|
0.00002
|
|
NM_000455.5(STK11):c.608C>T (p.Pro203Leu)
|
rs587782379
|
0.00002
|
|
NM_000455.5(STK11):c.735C>G (p.Leu245=)
|
rs773147894
|
0.00002
|
|
NM_000455.5(STK11):c.828C>T (p.Gly276=)
|
rs200824447
|
0.00002
|
|
NM_000455.5(STK11):c.944C>T (p.Pro315Leu)
|
rs766958608
|
0.00002
|
|
NM_000460.4(THPO):c.9G>A (p.Leu3=)
|
rs577831346
|
0.00002
|
|
NM_000465.4(BARD1):c.1217G>A (p.Arg406Gln)
|
rs587780014
|
0.00002
|
|
NM_000465.4(BARD1):c.159-7C>T
|
rs533403598
|
0.00002
|
|
NM_000465.4(BARD1):c.159T>C (p.Cys53=)
|
rs201708813
|
0.00002
|
|
NM_000465.4(BARD1):c.1613G>A (p.Ser538Asn)
|
rs370771157
|
0.00002
|
|
NM_000465.4(BARD1):c.1678A>G (p.Met560Val)
|
rs587780020
|
0.00002
|
|
NM_000465.4(BARD1):c.2083G>A (p.Val695Ile)
|
rs111367604
|
0.00002
|
|
NM_000465.4(BARD1):c.2179G>A (p.Asp727Asn)
|
rs730881424
|
0.00002
|
|
NM_000465.4(BARD1):c.267G>A (p.Pro89=)
|
rs756165637
|
0.00002
|
|
NM_000465.4(BARD1):c.556A>G (p.Ser186Gly)
|
rs16852741
|
0.00002
|
|
NM_000465.4(BARD1):c.79G>C (p.Glu27Gln)
|
rs587780037
|
0.00002
|
|
NM_000466.3(PEX1):c.2268A>G (p.Lys756=)
|
rs1434174453
|
0.00002
|
|
NM_000478.6(ALPL):c.306C>T (p.Asn102=)
|
rs1015578994
|
0.00002
|
|
NM_000487.6(ARSA):c.510C>T (p.Cys170=)
|
rs1483727422
|
0.00002
|
|
NM_000487.6(ARSA):c.930C>T (p.Gly310=)
|
rs767751622
|
0.00002
|
|
NM_000489.6(ATRX):c.1130C>T (p.Ala377Val)
|
rs781955237
|
0.00002
|
|
NM_000489.6(ATRX):c.1468G>A (p.Gly490Ser)
|
rs1378005125
|
0.00002
|
|
NM_000489.6(ATRX):c.1758A>G (p.Leu586=)
|
rs781987630
|
0.00002
|
|
NM_000489.6(ATRX):c.2212C>G (p.Leu738Val)
|
rs782470087
|
0.00002
|
|
NM_000489.6(ATRX):c.3133A>G (p.Lys1045Glu)
|
rs1332447363
|
0.00002
|
|
NM_000489.6(ATRX):c.3285G>T (p.Lys1095Asn)
|
rs1308342676
|
0.00002
|
|
NM_000489.6(ATRX):c.3387G>A (p.Leu1129=)
|
rs3761507
|
0.00002
|
|
NM_000489.6(ATRX):c.3664G>A (p.Asp1222Asn)
|
rs782520515
|
0.00002
|
|
NM_000492.4(CFTR):c.2259C>T (p.Ser753=)
|
rs201888075
|
0.00002
|
|
NM_000492.4(CFTR):c.2908+19G>C
|
rs370683572
|
0.00002
|
|
NM_000492.4(CFTR):c.3024C>T (p.Val1008=)
|
rs774643457
|
0.00002
|
|
NM_000492.4(CFTR):c.3852A>G (p.Lys1284=)
|
rs547248892
|
0.00002
|
|
NM_000492.4(CFTR):c.627A>G (p.Ala209=)
|
rs397508773
|
0.00002
|
|
NM_000492.4(CFTR):c.869+8G>T
|
rs773933167
|
0.00002
|
|
NM_000498.3(CYP11B2):c.1227G>A (p.Ser409=)
|
rs61757291
|
0.00002
|
|
NM_000498.3(CYP11B2):c.537C>T (p.Asn179=)
|
rs200206561
|
0.00002
|
|
NM_000501.4(ELN):c.2131+14C>T
|
rs782790041
|
0.00002
|
|
NM_000503.6(EYA1):c.107C>T (p.Thr36Ile)
|
rs727503048
|
0.00002
|
|
NM_000506.5(F2):c.882C>T (p.Ala294=)
|
rs370819135
|
0.00002
|
|
NM_000512.5(GALNS):c.1059G>A (p.Ala353=)
|
rs768334388
|
0.00002
|
|
NM_000512.5(GALNS):c.256C>T (p.Leu86=)
|
rs190707335
|
0.00002
|
|
NM_000517.6(HBA2):c.*103G>A
|
rs1363099908
|
0.00002
|
|
NM_000517.6(HBA2):c.64G>C (p.Ala22Pro)
|
rs281864817
|
0.00002
|
|
NM_000518.5(HBB):c.170G>A (p.Gly57Asp)
|
rs34439278
|
0.00002
|
|
NM_000518.5(HBB):c.359G>A (p.Gly120Asp)
|
rs33947020
|
0.00002
|
|
NM_000520.6(HEXA):c.906C>T (p.Ser302=)
|
rs765612435
|
0.00002
|
|
NM_000521.4(HEXB):c.1083-14A>C
|
rs776536464
|
0.00002
|
|
NM_000527.5(LDLR):c.-13A>G
|
rs376011618
|
0.00002
|
|
NM_000527.5(LDLR):c.1066G>A (p.Asp356Asn)
|
rs767767730
|
0.00002
|
|
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu)
|
rs730882103
|
0.00002
|
|
NM_000527.5(LDLR):c.1706-21_1706-19del
|
rs386134242
|
0.00002
|
|
NM_000527.5(LDLR):c.2100C>T (p.Asp700=)
|
rs759858813
|
0.00002
|
|
NM_000527.5(LDLR):c.2307C>G (p.His769Gln)
|
rs760479588
|
0.00002
|
|
NM_000527.5(LDLR):c.656G>A (p.Gly219Asp)
|
rs201384282
|
0.00002
|
|
NM_000528.4(MAN2B1):c.1109+10G>A
|
rs779635675
|
0.00002
|
|
NM_000528.4(MAN2B1):c.1587G>T (p.Pro529=)
|
rs771761940
|
0.00002
|
|
NM_000528.4(MAN2B1):c.2469C>T (p.Arg823=)
|
rs561895292
|
0.00002
|
|
NM_000531.6(OTC):c.216+9C>T
|
rs774764719
|
0.00002
|
|
NM_000531.6(OTC):c.76C>T (p.Arg26Trp)
|
rs1057515879
|
0.00002
|
|
NM_000532.5(PCCB):c.45C>T (p.Ser15=)
|
rs754664563
|
0.00002
|
|
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys)
|
rs549397464
|
0.00002
|
|
NM_000535.7(PMS2):c.-1C>A
|
rs369681753
|
0.00002
|
|
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met)
|
rs567102013
|
0.00002
|
|
NM_000535.7(PMS2):c.1170G>A (p.Ala390=)
|
rs755578413
|
0.00002
|
|
NM_000535.7(PMS2):c.1309C>T (p.Pro437Ser)
|
rs200726484
|
0.00002
|
|
NM_000535.7(PMS2):c.1357A>G (p.Met453Val)
|
rs587780722
|
0.00002
|
|
NM_000535.7(PMS2):c.139C>G (p.Leu47Val)
|
rs766203500
|
0.00002
|
|
NM_000535.7(PMS2):c.1435C>G (p.His479Asp)
|
rs376344586
|
0.00002
|
|
NM_000535.7(PMS2):c.2217G>A (p.Leu739=)
|
rs752718686
|
0.00002
|
|
NM_000535.7(PMS2):c.23+7G>C
|
rs878854047
|
0.00002
|
|
NM_000535.7(PMS2):c.24-3T>C
|
rs749485884
|
0.00002
|
|
NM_000535.7(PMS2):c.433C>A (p.Gln145Lys)
|
rs786204133
|
0.00002
|
|
NM_000535.7(PMS2):c.537+6G>A
|
rs1358613918
|
0.00002
|
|
NM_000535.7(PMS2):c.598G>A (p.Val200Ile)
|
rs587778620
|
0.00002
|
|
NM_000535.7(PMS2):c.706-13T>C
|
rs730881918
|
0.00002
|
|
NM_000535.7(PMS2):c.852A>G (p.Ser284=)
|
rs766177007
|
0.00002
|
|
NM_000540.3(RYR1):c.10230G>A (p.Pro3410=)
|
rs774663618
|
0.00002
|
|
NM_000540.3(RYR1):c.10729C>T (p.Arg3577Trp)
|
rs538497899
|
0.00002
|
|
NM_000540.3(RYR1):c.11385C>T (p.Ser3795=)
|
rs757745087
|
0.00002
|
|
NM_000540.3(RYR1):c.11443A>T (p.Met3815Leu)
|
rs368909156
|
0.00002
|
|
NM_000540.3(RYR1):c.12187A>G (p.Met4063Val)
|
rs181968345
|
0.00002
|
|
NM_000540.3(RYR1):c.12624+9A>G
|
rs548515798
|
0.00002
|
|
NM_000540.3(RYR1):c.13180G>A (p.Glu4394Lys)
|
rs748844266
|
0.00002
|
|
NM_000540.3(RYR1):c.13617C>T (p.Gly4539=)
|
rs2302296
|
0.00002
|
|
NM_000540.3(RYR1):c.14646+20C>G
|
rs371199096
|
0.00002
|
|
NM_000540.3(RYR1):c.14697G>A (p.Gly4899=)
|
rs770698609
|
0.00002
|
|
NM_000540.3(RYR1):c.14817C>T (p.Asp4939=)
|
rs193922895
|
0.00002
|
|
NM_000540.3(RYR1):c.1925+7C>T
|
rs559157737
|
0.00002
|
|
NM_000540.3(RYR1):c.2203C>T (p.His735Tyr)
|
rs771629253
|
0.00002
|
|
NM_000540.3(RYR1):c.3123C>T (p.Ala1041=)
|
rs569565316
|
0.00002
|
|
NM_000540.3(RYR1):c.3127C>T (p.Arg1043Cys)
|
rs111272095
|
0.00002
|
|
NM_000540.3(RYR1):c.3252C>T (p.Ser1084=)
|
rs144164620
|
0.00002
|
|
NM_000540.3(RYR1):c.4710C>T (p.Asn1570=)
|
rs763113534
|
0.00002
|
|
NM_000540.3(RYR1):c.4980C>T (p.Arg1660=)
|
rs374115286
|
0.00002
|
|
NM_000540.3(RYR1):c.5484C>T (p.Asp1828=)
|
rs775744847
|
0.00002
|
|
NM_000540.3(RYR1):c.6207A>G (p.Lys2069=)
|
rs920135778
|
0.00002
|
|
NM_000540.3(RYR1):c.7027+4A>T
|
rs753538619
|
0.00002
|
|
NM_000540.3(RYR1):c.7434C>G (p.Thr2478=)
|
rs747434152
|
0.00002
|
|
NM_000540.3(RYR1):c.7488G>A (p.Pro2496=)
|
rs375997435
|
0.00002
|
|
NM_000540.3(RYR1):c.7615-5C>T
|
rs768008924
|
0.00002
|
|
NM_000540.3(RYR1):c.7855C>T (p.Leu2619=)
|
rs762212220
|
0.00002
|
|
NM_000540.3(RYR1):c.8093T>C (p.Met2698Thr)
|
rs185021599
|
0.00002
|
|
NM_000540.3(RYR1):c.8466G>A (p.Thr2822=)
|
rs761622550
|
0.00002
|
|
NM_000540.3(RYR1):c.9122+8G>A
|
rs772116480
|
0.00002
|
|
NM_000540.3(RYR1):c.9555-14G>A
|
rs763353979
|
0.00002
|
|
NM_000540.3(RYR1):c.9825C>T (p.Pro3275=)
|
rs753425281
|
0.00002
|
|
NM_000543.5(SMPD1):c.102C>G (p.Gly34=)
|
rs889113421
|
0.00002
|
|
NM_000545.8(HNF1A):c.1745A>G (p.His582Arg)
|
rs193922589
|
0.00002
|
|
NM_000546.6(TP53):c.1060C>A (p.Gln354Lys)
|
rs755394212
|
0.00002
|
|
NM_000546.6(TP53):c.464C>G (p.Thr155Ser)
|
rs786202752
|
0.00002
|
|
NM_000546.6(TP53):c.466C>T (p.Arg156Cys)
|
rs563378859
|
0.00002
|
|
NM_000546.6(TP53):c.665C>T (p.Pro222Leu)
|
rs146340390
|
0.00002
|
|
NM_000548.5(TSC2):c.1785G>A (p.Gln595=)
|
rs150352976
|
0.00002
|
|
NM_000548.5(TSC2):c.1818C>T (p.Ile606=)
|
rs547389841
|
0.00002
|
|
NM_000548.5(TSC2):c.1883G>A (p.Arg628His)
|
rs774895427
|
0.00002
|
|
NM_000548.5(TSC2):c.2237C>T (p.Thr746Ile)
|
rs767770242
|
0.00002
|
|
NM_000548.5(TSC2):c.2246G>A (p.Arg749Gln)
|
rs766442736
|
0.00002
|
|
NM_000548.5(TSC2):c.2356C>T (p.Arg786Cys)
|
rs767252128
|
0.00002
|
|
NM_000548.5(TSC2):c.2404A>G (p.Ser802Gly)
|
rs200929621
|
0.00002
|
|
NM_000548.5(TSC2):c.2621C>T (p.Pro874Leu)
|
rs138527121
|
0.00002
|
|
NM_000548.5(TSC2):c.2968A>G (p.Arg990Gly)
|
rs753730009
|
0.00002
|
|
NM_000548.5(TSC2):c.2996G>A (p.Ser999Asn)
|
rs149808366
|
0.00002
|
|
NM_000548.5(TSC2):c.3270C>T (p.Ser1090=)
|
rs754951889
|
0.00002
|
|
NM_000548.5(TSC2):c.3526C>T (p.Pro1176Ser)
|
rs1326077397
|
0.00002
|
|
NM_000548.5(TSC2):c.354C>G (p.Val118=)
|
rs762228318
|
0.00002
|
|
NM_000548.5(TSC2):c.3551C>T (p.Ala1184Val)
|
rs1060500939
|
0.00002
|
|
NM_000548.5(TSC2):c.374A>G (p.Lys125Arg)
|
rs767059758
|
0.00002
|
|
NM_000548.5(TSC2):c.3768G>A (p.Pro1256=)
|
rs201599540
|
0.00002
|
|
NM_000548.5(TSC2):c.3818C>T (p.Ala1273Val)
|
rs749367382
|
0.00002
|
|
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met)
|
rs397515209
|
0.00002
|
|
NM_000548.5(TSC2):c.4030G>A (p.Glu1344Lys)
|
rs397515035
|
0.00002
|
|
NM_000548.5(TSC2):c.4077C>T (p.Ile1359=)
|
rs150999168
|
0.00002
|
|
NM_000548.5(TSC2):c.4106G>A (p.Arg1369Gln)
|
rs587778738
|
0.00002
|
|
NM_000548.5(TSC2):c.4349C>G (p.Pro1450Arg)
|
rs45517338
|
0.00002
|
|
NM_000548.5(TSC2):c.4355C>T (p.Ser1452Leu)
|
rs45517339
|
0.00002
|
|
NM_000548.5(TSC2):c.4461C>T (p.Ser1487=)
|
rs777104003
|
0.00002
|
|
NM_000548.5(TSC2):c.4527C>G (p.Phe1509Leu)
|
rs775919951
|
0.00002
|
|
NM_000548.5(TSC2):c.4834G>A (p.Asp1612Asn)
|
rs886051795
|
0.00002
|
|
NM_000548.5(TSC2):c.5014A>G (p.Ile1672Val)
|
rs374066182
|
0.00002
|
|
NM_000548.5(TSC2):c.5251C>T (p.Arg1751Cys)
|
rs781630603
|
0.00002
|
|
NM_000548.5(TSC2):c.5252G>A (p.Arg1751His)
|
rs373365980
|
0.00002
|
|
NM_000548.5(TSC2):c.5311C>G (p.Pro1771Ala)
|
rs777006583
|
0.00002
|
|
NM_000548.5(TSC2):c.560A>G (p.Asn187Ser)
|
rs45505405
|
0.00002
|
|
NM_000548.5(TSC2):c.975+7C>T
|
rs372463702
|
0.00002
|
|
NM_000553.6(WRN):c.3417T>C (p.Ser1139=)
|
rs752542644
|
0.00002
|
|
NM_000601.6(HGF):c.2019T>C (p.Tyr673=)
|
rs367800414
|
0.00002
|
|
NM_000642.3(AGL):c.2682-7T>C
|
rs375256646
|
0.00002
|
|
NM_000701.8(ATP1A1):c.1468-8C>T
|
rs764054683
|
0.00002
|
|
NM_000709.4(BCKDHA):c.1302C>T (p.Tyr434=)
|
rs398123491
|
0.00002
|
|
NM_000709.4(BCKDHA):c.798C>T (p.Asn266=)
|
rs772457864
|
0.00002
|
|
NM_000719.7(CACNA1C):c.408C>T (p.Ala136=)
|
rs769295096
|
0.00002
|
|
NM_000719.7(CACNA1C):c.5198C>T (p.Ala1733Val)
|
rs201049603
|
0.00002
|
|
NM_000719.7(CACNA1C):c.5329C>T (p.Arg1777Cys)
|
rs775251529
|
0.00002
|
|
NM_000719.7(CACNA1C):c.666C>T (p.Asn222=)
|
rs527741368
|
0.00002
|
|
NM_000726.5(CACNB4):c.1437G>A (p.Gln479=)
|
rs794727118
|
0.00002
|
|
NM_000742.4(CHRNA2):c.1270G>A (p.Ala424Thr)
|
rs767138285
|
0.00002
|
|
NM_000744.7(CHRNA4):c.1109G>A (p.Arg370Gln)
|
rs121912267
|
0.00002
|
|
NM_000751.3(CHRND):c.893G>A (p.Arg298His)
|
rs139722128
|
0.00002
|
|
NM_000784.4(CYP27A1):c.315C>T (p.His105=)
|
rs753981913
|
0.00002
|
|
NM_000784.4(CYP27A1):c.322C>T (p.Leu108=)
|
rs192344487
|
0.00002
|
|
NM_000784.4(CYP27A1):c.507G>A (p.Ala169=)
|
rs776260288
|
0.00002
|
|
NM_000784.4(CYP27A1):c.525G>A (p.Thr175=)
|
rs200506778
|
0.00002
|
|
NM_000784.4(CYP27A1):c.666C>T (p.Phe222=)
|
rs751692931
|
0.00002
|
|
NM_000784.4(CYP27A1):c.747G>A (p.Gln249=)
|
rs764766872
|
0.00002
|
|
NM_000823.4(GHRHR):c.870C>T (p.Val290=)
|
rs369716383
|
0.00002
|
|
NM_000836.4(GRIN2D):c.103C>T (p.Pro35Ser)
|
rs1303988486
|
0.00002
|
|
NM_000836.4(GRIN2D):c.1434C>T (p.Arg478=)
|
rs149544539
|
0.00002
|
|
NM_000878.5(IL2RB):c.538-3C>T
|
rs748309662
|
0.00002
|
|
NM_000890.5(KCNJ5):c.430A>G (p.Ile144Val)
|
rs369703183
|
0.00002
|
|
NM_001003800.2(BICD2):c.1477C>T (p.Arg493Cys)
|
rs146113445
|
0.00002
|
|
NM_001005242.3(PKP2):c.1887C>T (p.Gly629=)
|
rs368325383
|
0.00002
|
|
NM_001005242.3(PKP2):c.387G>A (p.Gln129=)
|
rs768974835
|
0.00002
|
|
NM_001005373.4(LRSAM1):c.1159+13A>T
|
rs756667241
|
0.00002
|
|
NM_001008537.3(NEXMIF):c.1154G>A (p.Gly385Asp)
|
rs375109305
|
0.00002
|
|
NM_001008537.3(NEXMIF):c.1418C>T (p.Ser473Phe)
|
rs1305966854
|
0.00002
|
|
NM_001008537.3(NEXMIF):c.1883G>A (p.Arg628Gln)
|
rs747436946
|
0.00002
|
|
NM_001008537.3(NEXMIF):c.3319G>A (p.Asp1107Asn)
|
rs751468762
|
0.00002
|
|
NM_001008537.3(NEXMIF):c.419T>C (p.Met140Thr)
|
rs766172626
|
0.00002
|
|
NM_001010892.3(RSPH4A):c.2135A>G (p.Glu712Gly)
|
rs765412618
|
0.00002
|
|
NM_001012339.3(DNAJC21):c.279C>T (p.Thr93=)
|
rs541503410
|
0.00002
|
|
NM_001012339.3(DNAJC21):c.50A>G (p.Glu17Gly)
|
rs761693334
|
0.00002
|
|
NM_001015877.2(PHF6):c.688A>G (p.Ile230Val)
|
rs794727879
|
0.00002
|
|
NM_001018113.3(FANCB):c.1079C>T (p.Thr360Met)
|
rs138192474
|
0.00002
|
|
NM_001018113.3(FANCB):c.1327-11_1327-10insC
|
rs1312589379
|
0.00002
|
|
NM_001025295.3(IFITM5):c.100C>T (p.Arg34Ter)
|
rs531009160
|
0.00002
|
|
NM_001025603.2(RFX5):c.1236A>G (p.Thr412=)
|
rs771403545
|
0.00002
|
|
NM_001025603.2(RFX5):c.1797G>A (p.Val599=)
|
rs772352167
|
0.00002
|
|
NM_001025603.2(RFX5):c.807T>G (p.Gly269=)
|
rs147137349
|
0.00002
|
|
NM_001025603.2(RFX5):c.858+13G>A
|
rs778371620
|
0.00002
|
|
NM_001029883.3(PCARE):c.85C>T (p.Arg29Trp)
|
rs201706430
|
0.00002
|
|
NM_001031679.3(MSRB3):c.391-7C>G
|
rs758848551
|
0.00002
|
|
NM_001032386.2(SUOX):c.192C>T (p.Leu64=)
|
rs577360771
|
0.00002
|
|
NM_001033855.3(DCLRE1C):c.1224G>A (p.Pro408=)
|
rs532892332
|
0.00002
|
|
NM_001034116.2(EIF2B4):c.1400G>A (p.Arg467Gln)
|
rs751555693
|
0.00002
|
|
NM_001034850.3(RETREG1):c.1182T>C (p.Ala394=)
|
rs886043753
|
0.00002
|
|
NM_001035.3(RYR2):c.1022G>C (p.Gly341Ala)
|
rs565413020
|
0.00002
|
|
NM_001035.3(RYR2):c.10517G>A (p.Arg3506Gln)
|
rs748805290
|
0.00002
|
|
NM_001035.3(RYR2):c.1319C>T (p.Ala440Val)
|
rs758904216
|
0.00002
|
|
NM_001035.3(RYR2):c.1404G>A (p.Glu468=)
|
rs768538183
|
0.00002
|
|
NM_001035.3(RYR2):c.1476+3C>T
|
rs1387762631
|
0.00002
|
|
NM_001035.3(RYR2):c.3180C>T (p.Tyr1060=)
|
rs398123540
|
0.00002
|
|
NM_001035.3(RYR2):c.4899T>C (p.Pro1633=)
|
rs1060503853
|
0.00002
|
|
NM_001035.3(RYR2):c.5428G>C (p.Val1810Leu)
|
rs754364233
|
0.00002
|
|
NM_001035.3(RYR2):c.6013A>G (p.Thr2005Ala)
|
rs373235823
|
0.00002
|
|
NM_001035.3(RYR2):c.6083G>A (p.Arg2028His)
|
rs1313042151
|
0.00002
|
|
NM_001035.3(RYR2):c.6726G>A (p.Val2242=)
|
rs767246962
|
0.00002
|
|
NM_001035.3(RYR2):c.8798T>G (p.Val2933Gly)
|
rs550691734
|
0.00002
|
|
NM_001037.5(SCN1B):c.367G>A (p.Val123Ile)
|
rs754215948
|
0.00002
|
|
NM_001039141.3(TRIOBP):c.6472+19_6472+20insA
|
rs397769084
|
0.00002
|
|
NM_001039591.3(USP9X):c.3892T>C (p.Leu1298=)
|
rs1361298317
|
0.00002
|
|
NM_001039876.3(SYNE4):c.616C>T (p.Leu206=)
|
rs771897813
|
0.00002
|
|
NM_001040108.2(MLH3):c.3020A>G (p.Asn1007Ser)
|
rs776639203
|
0.00002
|
|
NM_001040142.2(SCN2A):c.1889G>A (p.Arg630His)
|
rs150040573
|
0.00002
|
|
NM_001040142.2(SCN2A):c.3598A>G (p.Thr1200Ala)
|
rs765909421
|
0.00002
|
|
NM_001040167.2(LFNG):c.774C>T (p.Gly258=)
|
rs770507072
|
0.00002
|
|
NM_001040436.3(YARS2):c.626A>G (p.Lys209Arg)
|
rs541554381
|
0.00002
|
|
NM_001040716.2(PC):c.1377C>T (p.Ile459=)
|
rs201776268
|
0.00002
|
|
NM_001040716.2(PC):c.1514-13G>A
|
rs773976056
|
0.00002
|
|
NM_001040716.2(PC):c.1664G>A (p.Arg555Gln)
|
rs148613404
|
0.00002
|
|
NM_001040716.2(PC):c.3213C>T (p.Ala1071=)
|
rs774982916
|
0.00002
|
|
NM_001040716.2(PC):c.543C>T (p.His181=)
|
rs139717038
|
0.00002
|
|
NM_001042492.3(NF1):c.1620G>T (p.Glu540Asp)
|
rs766748586
|
0.00002
|
|
NM_001042492.3(NF1):c.1701A>G (p.Val567=)
|
rs786203819
|
0.00002
|
|
NM_001042492.3(NF1):c.1955G>A (p.Arg652His)
|
rs587778549
|
0.00002
|
|
NM_001042492.3(NF1):c.2023G>A (p.Gly675Arg)
|
rs779546178
|
0.00002
|
|
NM_001042492.3(NF1):c.2294G>A (p.Arg765His)
|
rs199474777
|
0.00002
|
|
NM_001042492.3(NF1):c.3063A>C (p.Val1021=)
|
rs768611775
|
0.00002
|
|
NM_001042492.3(NF1):c.3374C>T (p.Ala1125Val)
|
rs902739109
|
0.00002
|
|
NM_001042492.3(NF1):c.3765A>G (p.Gln1255=)
|
rs766896025
|
0.00002
|
|
NM_001042492.3(NF1):c.3970A>G (p.Thr1324Ala)
|
rs189522993
|
0.00002
|
|
NM_001042492.3(NF1):c.4110+4T>C
|
rs587781700
|
0.00002
|
|
NM_001042492.3(NF1):c.5263A>G (p.Ile1755Val)
|
rs370181275
|
0.00002
|
|
NM_001042492.3(NF1):c.5289A>G (p.Gln1763=)
|
rs199703296
|
0.00002
|
|
NM_001042492.3(NF1):c.5426C>T (p.Pro1809Leu)
|
rs587782220
|
0.00002
|
|
NM_001042492.3(NF1):c.623C>T (p.Ala208Val)
|
rs758624540
|
0.00002
|
|
NM_001042492.3(NF1):c.6851C>T (p.Thr2284Ile)
|
rs747881072
|
0.00002
|
|
NM_001042492.3(NF1):c.7055A>G (p.Asn2352Ser)
|
rs763082717
|
0.00002
|
|
NM_001042492.3(NF1):c.7457+8G>T
|
rs376147282
|
0.00002
|
|
NM_001042492.3(NF1):c.7484C>T (p.Ser2495Phe)
|
rs757245615
|
0.00002
|
|
NM_001042492.3(NF1):c.7869+6G>A
|
rs864622318
|
0.00002
|
|
NM_001042492.3(NF1):c.8456G>A (p.Ser2819Asn)
|
rs934837854
|
0.00002
|
|
NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr)
|
rs200572531
|
0.00002
|
|
NM_001042492.3(NF1):c.8494C>T (p.Arg2832Cys)
|
rs587782893
|
0.00002
|
|
NM_001042545.2(LTBP4):c.1158G>A (p.Glu386=)
|
rs1015435132
|
0.00002
|
|
NM_001048174.2(MUTYH):c.1172C>A (p.Ala391Asp)
|
rs369299948
|
0.00002
|
|
NM_001048174.2(MUTYH):c.1226G>A (p.Arg409Gln)
|
rs587782120
|
0.00002
|
|
NM_001048174.2(MUTYH):c.877G>A (p.Gly293Arg)
|
rs765686051
|
0.00002
|
|
NM_001065.4(TNFRSF1A):c.228G>A (p.Gly76=)
|
rs104895274
|
0.00002
|
|
NM_001069.3(TUBB2A):c.602C>G (p.Ser201Cys)
|
rs1054331
|
0.00002
|
|
NM_001077365.2(POMT1):c.1698+6C>T
|
rs180847856
|
0.00002
|
|
NM_001077525.3(MTMR14):c.540G>A (p.Glu180=)
|
rs993417750
|
0.00002
|
|
NM_001079802.2(FKTN):c.342A>G (p.Ala114=)
|
rs368598407
|
0.00002
|
|
NM_001079802.2(FKTN):c.63G>C (p.Leu21=)
|
rs766642997
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.1320C>T (p.Phe440=)
|
rs771829991
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.1343+8C>T
|
rs775916984
|
0.00002
|
|
NM_001080442.3(SLC38A8):c.633-5T>G
|
rs778342318
|
0.00002
|
|
NM_001080449.3(DNA2):c.1485A>G (p.Gln495=)
|
rs368855073
|
0.00002
|
|
NM_001080517.3(SETD5):c.13A>G (p.Ile5Val)
|
rs567415895
|
0.00002
|
|
NM_001080517.3(SETD5):c.3656A>G (p.Glu1219Gly)
|
rs1052957698
|
0.00002
|
|
NM_001080517.3(SETD5):c.382A>G (p.Ile128Val)
|
rs780263494
|
0.00002
|
|
NM_001083116.3(PRF1):c.1305G>A (p.Thr435=)
|
rs200167080
|
0.00002
|
|
NM_001083961.2(WDR62):c.1479C>T (p.Ala493=)
|
rs150656878
|
0.00002
|
|
NM_001099922.3(ALG13):c.1005+4A>G
|
rs758242204
|
0.00002
|
|
NM_001099922.3(ALG13):c.1210G>A (p.Glu404Lys)
|
rs1272022379
|
0.00002
|
|
NM_001101362.3(KBTBD13):c.251G>C (p.Cys84Ser)
|
rs999785767
|
0.00002
|
|
NM_001101426.4(CRPPA):c.402A>G (p.Leu134=)
|
rs368815582
|
0.00002
|
|
NM_001101426.4(CRPPA):c.52C>T (p.Leu18=)
|
rs886043287
|
0.00002
|
|
NM_001101426.4(CRPPA):c.825G>A (p.Ser275=)
|
rs766874330
|
0.00002
|
|
NM_001103.4(ACTN2):c.2496C>T (p.Ile832=)
|
rs189019392
|
0.00002
|
|
NM_001105206.3(LAMA4):c.1669-6C>G
|
rs561096787
|
0.00002
|
|
NM_001105206.3(LAMA4):c.3559G>A (p.Ala1187Thr)
|
rs781943786
|
0.00002
|
|
NM_001110556.2(FLNA):c.1000G>A (p.Ala334Thr)
|
rs886044859
|
0.00002
|
|
NM_001110556.2(FLNA):c.1314C>T (p.Gly438=)
|
rs372113435
|
0.00002
|
|
NM_001110556.2(FLNA):c.1580G>A (p.Arg527His)
|
rs782450368
|
0.00002
|
|
NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala)
|
rs782445995
|
0.00002
|
|
NM_001110556.2(FLNA):c.461T>C (p.Met154Thr)
|
rs782240483
|
0.00002
|
|
NM_001110556.2(FLNA):c.4899C>T (p.Arg1633=)
|
rs781846478
|
0.00002
|
|
NM_001110556.2(FLNA):c.623-7G>A
|
rs782670288
|
0.00002
|
|
NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser)
|
rs782400832
|
0.00002
|
|
NM_001110556.2(FLNA):c.6728C>G (p.Ala2243Gly)
|
rs953454766
|
0.00002
|
|
NM_001110556.2(FLNA):c.7389G>A (p.Ser2463=)
|
rs373103712
|
0.00002
|
|
NM_001110556.2(FLNA):c.7738G>A (p.Val2580Ile)
|
rs377518545
|
0.00002
|
|
NM_001110792.2(MECP2):c.1187C>T (p.Pro396Leu)
|
rs193922676
|
0.00002
|
|
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala)
|
rs61748427
|
0.00002
|
|
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg)
|
rs587783139
|
0.00002
|
|
NM_001110792.2(MECP2):c.895G>C (p.Ala299Pro)
|
rs61750257
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.1695C>T (p.Asp565=)
|
rs886044781
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.2777G>A (p.Arg926Gln)
|
rs1556861372
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.618C>T (p.Ser206=)
|
rs370573314
|
0.00002
|
|
NM_001112741.2(KCNC1):c.709C>T (p.Arg237Trp)
|
rs150993414
|
0.00002
|
|
NM_001114748.2(TMEM240):c.264C>T (p.Ile88=)
|
rs763953379
|
0.00002
|
|
NM_001114753.3(ENG):c.149C>T (p.Ser50Leu)
|
rs927607049
|
0.00002
|
|
NM_001114753.3(ENG):c.1572C>T (p.Pro524=)
|
rs760682477
|
0.00002
|
|
NM_001114753.3(ENG):c.1806C>T (p.Ile602=)
|
rs373002544
|
0.00002
|
|
NM_001122752.2(SERPINI1):c.281C>T (p.Ser94Leu)
|
rs781486255
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3228G>A (p.Ala1076=)
|
rs373678395
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3403G>A (p.Gly1135Ser)
|
rs762006290
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5157C>T (p.Asp1719=)
|
rs758409135
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5844G>A (p.Thr1948=)
|
rs368203745
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5986A>G (p.Thr1996Ala)
|
rs141963371
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6013G>A (p.Ala2005Thr)
|
rs374063403
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6340-7C>A
|
rs765609971
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu)
|
rs572722130
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6467G>A (p.Arg2156His)
|
rs755749925
|
0.00002
|
|
NM_001127453.2(GSDME):c.480G>C (p.Gln160His)
|
rs546120306
|
0.00002
|
|
NM_001127511.3(APC):c.166-28443T>A
|
rs751998391
|
0.00002
|
|
NM_001127644.2(GABRA1):c.75C>T (p.Ser25=)
|
rs75423500
|
0.00002
|
|
NM_001127671.2(LIFR):c.1485T>C (p.Ala495=)
|
rs759537735
|
0.00002
|
|
NM_001128425.2(MUTYH):c.161G>A (p.Cys54Tyr)
|
rs560905645
|
0.00002
|
|
NM_001128840.3(CACNA1D):c.1892+3A>G
|
rs779597807
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.1073A>G (p.Asn358Ser)
|
rs201947293
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.1339G>A (p.Glu447Lys)
|
rs767067922
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.641A>G (p.Lys214Arg)
|
rs760419507
|
0.00002
|
|
NM_001130438.3(SPTAN1):c.7316C>T (p.Thr2439Ile)
|
rs746532292
|
0.00002
|
|
NM_001130823.3(DNMT1):c.2835C>T (p.Asn945=)
|
rs539948794
|
0.00002
|
|
NM_001130823.3(DNMT1):c.867C>T (p.Asp289=)
|
rs750916721
|
0.00002
|
|
NM_001130987.2(DYSF):c.1255C>T (p.Arg419Trp)
|
rs527435707
|
0.00002
|
|
NM_001130987.2(DYSF):c.1917G>A (p.Gly639=)
|
rs769518034
|
0.00002
|
|
NM_001130987.2(DYSF):c.2192C>T (p.Thr731Met)
|
rs570860273
|
0.00002
|
|
NM_001130987.2(DYSF):c.3321C>T (p.Phe1107=)
|
rs945602962
|
0.00002
|
|
NM_001130987.2(DYSF):c.4932C>T (p.Ile1644=)
|
rs763309812
|
0.00002
|
|
NM_001130987.2(DYSF):c.5267G>A (p.Arg1756Gln)
|
rs957111625
|
0.00002
|
|
NM_001130987.2(DYSF):c.6254C>A (p.Ala2085Asp)
|
rs1271141178
|
0.00002
|
|
NM_001134363.3(RBM20):c.1135G>A (p.Gly379Arg)
|
rs199842148
|
0.00002
|
|
NM_001134363.3(RBM20):c.1748G>A (p.Gly583Asp)
|
rs767827357
|
0.00002
|
|
NM_001134363.3(RBM20):c.2107A>G (p.Arg703Gly)
|
rs899167549
|
0.00002
|
|
NM_001134363.3(RBM20):c.2333C>T (p.Ala778Val)
|
rs397516602
|
0.00002
|
|
NM_001134363.3(RBM20):c.2764G>A (p.Val922Met)
|
rs947100716
|
0.00002
|
|
NM_001134363.3(RBM20):c.3185T>C (p.Phe1062Ser)
|
rs1479765434
|
0.00002
|
|
NM_001134363.3(RBM20):c.3550G>A (p.Ala1184Thr)
|
rs1300657058
|
0.00002
|
|
NM_001134363.3(RBM20):c.83G>A (p.Gly28Asp)
|
rs1466787506
|
0.00002
|
|
NM_001134363.3(RBM20):c.954A>G (p.Gln318=)
|
rs766779254
|
0.00002
|
|
NM_001134407.3(GRIN2A):c.1380C>T (p.Cys460=)
|
rs375291296
|
0.00002
|
|
NM_001134407.3(GRIN2A):c.2650G>A (p.Asp884Asn)
|
rs777684328
|
0.00002
|
|
NM_001134407.3(GRIN2A):c.3338C>T (p.Pro1113Leu)
|
rs201698049
|
0.00002
|
|
NM_001142800.2(EYS):c.-351C>T
|
rs761045622
|
0.00002
|
|
NM_001142800.2(EYS):c.151T>C (p.Leu51=)
|
rs757997501
|
0.00002
|
|
NM_001142864.4(PIEZO1):c.7091A>G (p.Asn2364Ser)
|
rs1013412353
|
0.00002
|
|
NM_001145809.2(MYH14):c.4259C>T (p.Ala1420Val)
|
rs727503225
|
0.00002
|
|
NM_001145809.2(MYH14):c.5566C>T (p.Arg1856Trp)
|
rs539875477
|
0.00002
|
|
NM_001148.6(ANK2):c.10118C>T (p.Ala3373Val)
|
rs371358639
|
0.00002
|
|
NM_001148.6(ANK2):c.11182G>A (p.Val3728Ile)
|
rs773907372
|
0.00002
|
|
NM_001148.6(ANK2):c.11652A>G (p.Glu3884=)
|
rs752145926
|
0.00002
|
|
NM_001148.6(ANK2):c.2160T>A (p.Asp720Glu)
|
rs748835902
|
0.00002
|
|
NM_001148.6(ANK2):c.3067G>A (p.Gly1023Arg)
|
rs151127289
|
0.00002
|
|
NM_001148.6(ANK2):c.5515A>C (p.Thr1839Pro)
|
rs763795429
|
0.00002
|
|
NM_001148.6(ANK2):c.8182G>A (p.Glu2728Lys)
|
rs756424757
|
0.00002
|
|
NM_001148.6(ANK2):c.8927C>G (p.Ser2976Cys)
|
rs371343942
|
0.00002
|
|
NM_001148.6(ANK2):c.9703C>T (p.Pro3235Ser)
|
rs202098889
|
0.00002
|
|
NM_001148.6(ANK2):c.9842A>G (p.Gln3281Arg)
|
rs1306812632
|
0.00002
|
|
NM_001159699.2(FHL1):c.447G>A (p.Lys149=)
|
rs768142579
|
0.00002
|
|
NM_001160372.4(TRAPPC9):c.2988G>A (p.Glu996=)
|
rs142048892
|
0.00002
|
|
NM_001161352.2(KCNMA1):c.3138C>G (p.Leu1046=)
|
rs766964098
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.149-7C>T
|
rs1316874319
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.382-10T>C
|
rs914753772
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.382-4A>C
|
rs923058912
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.991A>G (p.Ile331Val)
|
rs201967384
|
0.00002
|
|
NM_001164507.2(NEB):c.21346G>A (p.Asp7116Asn)
|
rs372827767
|
0.00002
|
|
NM_001164508.2(NEB):c.10471A>G (p.Met3491Val)
|
rs761174573
|
0.00002
|
|
NM_001164508.2(NEB):c.10544G>A (p.Arg3515Gln)
|
rs748799656
|
0.00002
|
|
NM_001164508.2(NEB):c.11457G>A (p.Val3819=)
|
rs780152095
|
0.00002
|
|
NM_001164508.2(NEB):c.11716C>T (p.Arg3906Cys)
|
rs759419548
|
0.00002
|
|
NM_001164508.2(NEB):c.12258G>C (p.Leu4086=)
|
rs371771414
|
0.00002
|
|
NM_001164508.2(NEB):c.14755G>C (p.Ala4919Pro)
|
rs1057523555
|
0.00002
|
|
NM_001164508.2(NEB):c.16735C>T (p.Arg5579Cys)
|
rs762876022
|
0.00002
|
|
NM_001164508.2(NEB):c.17161G>A (p.Val5721Met)
|
rs746737604
|
0.00002
|
|
NM_001164508.2(NEB):c.17185G>A (p.Asp5729Asn)
|
rs374867405
|
0.00002
|
|
NM_001164508.2(NEB):c.17938G>A (p.Ala5980Thr)
|
rs1267739726
|
0.00002
|
|
NM_001164508.2(NEB):c.18140A>G (p.Tyr6047Cys)
|
rs533393007
|
0.00002
|
|
NM_001164508.2(NEB):c.18255G>A (p.Met6085Ile)
|
rs553375465
|
0.00002
|
|
NM_001164508.2(NEB):c.18366+9G>A
|
rs759834773
|
0.00002
|
|
NM_001164508.2(NEB):c.18693+9_18693+10del
|
rs756671954
|
0.00002
|
|
NM_001164508.2(NEB):c.18830C>T (p.Thr6277Met)
|
rs371689870
|
0.00002
|
|
NM_001164508.2(NEB):c.19385C>T (p.Pro6462Leu)
|
rs369054525
|
0.00002
|
|
NM_001164508.2(NEB):c.19543C>T (p.Arg6515Cys)
|
rs765363585
|
0.00002
|
|
NM_001164508.2(NEB):c.19544G>A (p.Arg6515His)
|
rs757278862
|
0.00002
|
|
NM_001164508.2(NEB):c.19621A>C (p.Ser6541Arg)
|
rs779842159
|
0.00002
|
|
NM_001164508.2(NEB):c.20099T>C (p.Leu6700Pro)
|
rs560109089
|
0.00002
|
|
NM_001164508.2(NEB):c.20144A>G (p.Asn6715Ser)
|
rs536934629
|
0.00002
|
|
NM_001164508.2(NEB):c.20728G>A (p.Ala6910Thr)
|
rs750152377
|
0.00002
|
|
NM_001164508.2(NEB):c.21689C>T (p.Ala7230Val)
|
rs368315910
|
0.00002
|
|
NM_001164508.2(NEB):c.21916G>A (p.Ala7306Thr)
|
rs1289511955
|
0.00002
|
|
NM_001164508.2(NEB):c.22984C>T (p.His7662Tyr)
|
rs373852098
|
0.00002
|
|
NM_001164508.2(NEB):c.23198C>T (p.Pro7733Leu)
|
rs372387518
|
0.00002
|
|
NM_001164508.2(NEB):c.23650-5T>G
|
rs773618223
|
0.00002
|
|
NM_001164508.2(NEB):c.24527C>T (p.Pro8176Leu)
|
rs751680308
|
0.00002
|
|
NM_001164508.2(NEB):c.24557G>A (p.Arg8186His)
|
rs759962661
|
0.00002
|
|
NM_001164508.2(NEB):c.24645G>A (p.Val8215=)
|
rs769610035
|
0.00002
|
|
NM_001164508.2(NEB):c.2490G>A (p.Leu830=)
|
rs1259136731
|
0.00002
|
|
NM_001164508.2(NEB):c.25028G>A (p.Arg8343Gln)
|
rs886054926
|
0.00002
|
|
NM_001164508.2(NEB):c.25414C>T (p.Arg8472Cys)
|
rs542706227
|
0.00002
|
|
NM_001164508.2(NEB):c.2940T>C (p.Asn980=)
|
rs1472489170
|
0.00002
|
|
NM_001164508.2(NEB):c.3094C>T (p.Pro1032Ser)
|
rs544334101
|
0.00002
|
|
NM_001164508.2(NEB):c.3203C>T (p.Thr1068Ile)
|
rs769233880
|
0.00002
|
|
NM_001164508.2(NEB):c.3239G>A (p.Arg1080Lys)
|
rs1377050628
|
0.00002
|
|
NM_001164508.2(NEB):c.3245C>T (p.Ala1082Val)
|
rs752809792
|
0.00002
|
|
NM_001164508.2(NEB):c.3370C>T (p.Arg1124Trp)
|
rs758590520
|
0.00002
|
|
NM_001164508.2(NEB):c.3497A>T (p.His1166Leu)
|
rs765273968
|
0.00002
|
|
NM_001164508.2(NEB):c.3634G>A (p.Asp1212Asn)
|
rs779673816
|
0.00002
|
|
NM_001164508.2(NEB):c.3759G>A (p.Thr1253=)
|
rs763075598
|
0.00002
|
|
NM_001164508.2(NEB):c.4283A>G (p.Asn1428Ser)
|
rs565184120
|
0.00002
|
|
NM_001164508.2(NEB):c.4343G>C (p.Gly1448Ala)
|
rs756000690
|
0.00002
|
|
NM_001164508.2(NEB):c.4548T>C (p.Tyr1516=)
|
rs748479655
|
0.00002
|
|
NM_001164508.2(NEB):c.4664G>A (p.Arg1555Lys)
|
rs183333679
|
0.00002
|
|
NM_001164508.2(NEB):c.4666C>T (p.Pro1556Ser)
|
rs756692621
|
0.00002
|
|
NM_001164508.2(NEB):c.6145A>G (p.Ile2049Val)
|
rs755853362
|
0.00002
|
|
NM_001164508.2(NEB):c.6225G>T (p.Met2075Ile)
|
rs760968740
|
0.00002
|
|
NM_001164508.2(NEB):c.6392A>T (p.Asn2131Ile)
|
rs781202038
|
0.00002
|
|
NM_001164508.2(NEB):c.674C>T (p.Pro225Leu)
|
rs770322824
|
0.00002
|
|
NM_001164508.2(NEB):c.6893C>T (p.Ala2298Val)
|
rs1280388530
|
0.00002
|
|
NM_001164508.2(NEB):c.7233A>G (p.Leu2411=)
|
rs1023030953
|
0.00002
|
|
NM_001164508.2(NEB):c.734G>T (p.Gly245Val)
|
rs765569689
|
0.00002
|
|
NM_001164508.2(NEB):c.7860C>T (p.Ser2620=)
|
rs753267809
|
0.00002
|
|
NM_001164508.2(NEB):c.8224G>C (p.Glu2742Gln)
|
rs772837483
|
0.00002
|
|
NM_001164508.2(NEB):c.8319G>T (p.Arg2773=)
|
rs746644593
|
0.00002
|
|
NM_001164508.2(NEB):c.8690T>C (p.Met2897Thr)
|
rs747466015
|
0.00002
|
|
NM_001164508.2(NEB):c.992C>G (p.Pro331Arg)
|
rs763822076
|
0.00002
|
|
NM_001164688.2(RD3):c.102G>A (p.Thr34=)
|
rs199511076
|
0.00002
|
|
NM_001165963.4(SCN1A):c.3220G>A (p.Asp1074Asn)
|
rs751514645
|
0.00002
|
|
NM_001165963.4(SCN1A):c.4284+7G>A
|
rs745918943
|
0.00002
|
|
NM_001166114.2(PNPLA6):c.2028G>A (p.Lys676=)
|
rs779751590
|
0.00002
|
|
NM_001170629.2(CHD8):c.1320G>A (p.Ser440=)
|
rs898418482
|
0.00002
|
|
NM_001170629.2(CHD8):c.181T>C (p.Ser61Pro)
|
rs1064795811
|
0.00002
|
|
NM_001170629.2(CHD8):c.6850C>A (p.His2284Asn)
|
rs777463739
|
0.00002
|
|
NM_001171.6(ABCC6):c.1774G>A (p.Val592Ile)
|
rs190761354
|
0.00002
|
|
NM_001173990.3(TMEM216):c.57G>T (p.Pro19=)
|
rs769285695
|
0.00002
|
|
NM_001177316.2(SLC34A3):c.449-3C>T
|
rs757092241
|
0.00002
|
|
NM_001184880.2(PCDH19):c.2721T>C (p.Ser907=)
|
rs376946966
|
0.00002
|
|
NM_001193315.2(VIPAS39):c.1005A>T (p.Thr335=)
|
rs765454382
|
0.00002
|
|
NM_001194998.2(CEP152):c.60C>T (p.Asp20=)
|
rs759826252
|
0.00002
|
|
NM_001197104.2(KMT2A):c.10418G>A (p.Arg3473His)
|
rs782670360
|
0.00002
|
|
NM_001197104.2(KMT2A):c.10863G>C (p.Gln3621His)
|
rs781816624
|
0.00002
|
|
NM_001197104.2(KMT2A):c.10901-5A>G
|
rs369909433
|
0.00002
|
|
NM_001197104.2(KMT2A):c.11246G>A (p.Arg3749His)
|
rs781945281
|
0.00002
|
|
NM_001197104.2(KMT2A):c.2030G>A (p.Arg677Gln)
|
rs781995666
|
0.00002
|
|
NM_001197104.2(KMT2A):c.2426C>T (p.Ser809Phe)
|
rs374005016
|
0.00002
|
|
NM_001197104.2(KMT2A):c.4696+6C>A
|
rs534620846
|
0.00002
|
|
NM_001197104.2(KMT2A):c.5665-10T>C
|
rs1401608038
|
0.00002
|
|
NM_001199107.2(TBC1D24):c.1015A>G (p.Asn339Asp)
|
rs574768683
|
0.00002
|
|
NM_001199753.2(CPT1C):c.899G>A (p.Arg300His)
|
rs753309074
|
0.00002
|
|
NM_001205293.3(CACNA1E):c.312C>T (p.Ile104=)
|
rs760287778
|
0.00002
|
|
NM_001220.5(CAMK2B):c.1176+9C>G
|
rs766988307
|
0.00002
|
|
NM_001243133.2(NLRP3):c.2419G>A (p.Ala807Thr)
|
rs201096167
|
0.00002
|
|
NM_001243133.2(NLRP3):c.2732A>G (p.Asn911Ser)
|
rs577683668
|
0.00002
|
|
NM_001243279.3(ACSF3):c.1671G>A (p.Pro557=)
|
rs747338200
|
0.00002
|
|
NM_001243279.3(ACSF3):c.480C>T (p.Val160=)
|
rs375671065
|
0.00002
|
|
NM_001256317.3(TMPRSS3):c.999C>T (p.Pro333=)
|
rs192630206
|
0.00002
|
|
NM_001256545.2(MEGF10):c.2919G>A (p.Val973=)
|
rs770936974
|
0.00002
|
|
NM_001256789.3(CACNA1F):c.2444G>T (p.Gly815Val)
|
rs781938466
|
0.00002
|
|
NM_001256789.3(CACNA1F):c.5332C>T (p.Arg1778Cys)
|
rs781892709
|
0.00002
|
|
NM_001267550.2(TTN):c.10024G>A (p.Val3342Ile)
|
rs727503679
|
0.00002
|
|
NM_001267550.2(TTN):c.101622C>T (p.Asn33874=)
|
rs780835388
|
0.00002
|
|
NM_001267550.2(TTN):c.102024A>G (p.Leu34008=)
|
rs727504677
|
0.00002
|
|
NM_001267550.2(TTN):c.102614G>A (p.Gly34205Asp)
|
rs367926247
|
0.00002
|
|
NM_001267550.2(TTN):c.102965G>A (p.Ser34322Asn)
|
rs763242057
|
0.00002
|
|
NM_001267550.2(TTN):c.103302T>C (p.Tyr34434=)
|
rs773408387
|
0.00002
|
|
NM_001267550.2(TTN):c.103576G>C (p.Glu34526Gln)
|
rs770742837
|
0.00002
|
|
NM_001267550.2(TTN):c.103859G>A (p.Arg34620His)
|
rs367927066
|
0.00002
|
|
NM_001267550.2(TTN):c.103996C>G (p.Pro34666Ala)
|
rs201240519
|
0.00002
|
|
NM_001267550.2(TTN):c.105261G>A (p.Thr35087=)
|
rs556741970
|
0.00002
|
|
NM_001267550.2(TTN):c.105653T>C (p.Ile35218Thr)
|
rs143499441
|
0.00002
|
|
NM_001267550.2(TTN):c.107134A>C (p.Asn35712His)
|
rs727504949
|
0.00002
|
|
NM_001267550.2(TTN):c.107517T>G (p.Ser35839Arg)
|
rs776981475
|
0.00002
|
|
NM_001267550.2(TTN):c.13499A>G (p.Lys4500Arg)
|
rs727503655
|
0.00002
|
|
NM_001267550.2(TTN):c.14002A>G (p.Thr4668Ala)
|
rs758920941
|
0.00002
|
|
NM_001267550.2(TTN):c.1450G>A (p.Asp484Asn)
|
rs768211726
|
0.00002
|
|
NM_001267550.2(TTN):c.14536G>A (p.Ala4846Thr)
|
rs752150323
|
0.00002
|
|
NM_001267550.2(TTN):c.15388G>A (p.Val5130Met)
|
rs765530283
|
0.00002
|
|
NM_001267550.2(TTN):c.15430G>A (p.Glu5144Lys)
|
rs766612317
|
0.00002
|
|
NM_001267550.2(TTN):c.16157T>C (p.Met5386Thr)
|
rs375417155
|
0.00002
|
|
NM_001267550.2(TTN):c.16738A>G (p.Asn5580Asp)
|
rs376598696
|
0.00002
|
|
NM_001267550.2(TTN):c.16959T>C (p.Asp5653=)
|
rs770260995
|
0.00002
|
|
NM_001267550.2(TTN):c.17319C>T (p.Asp5773=)
|
rs760724229
|
0.00002
|
|
NM_001267550.2(TTN):c.17596G>T (p.Gly5866Cys)
|
rs753136638
|
0.00002
|
|
NM_001267550.2(TTN):c.18542G>A (p.Arg6181Gln)
|
rs201951252
|
0.00002
|
|
NM_001267550.2(TTN):c.18720A>G (p.Arg6240=)
|
rs201395913
|
0.00002
|
|
NM_001267550.2(TTN):c.18777C>A (p.Thr6259=)
|
rs750180579
|
0.00002
|
|
NM_001267550.2(TTN):c.19995A>T (p.Glu6665Asp)
|
rs146828735
|
0.00002
|
|
NM_001267550.2(TTN):c.21605C>G (p.Ser7202Cys)
|
rs747376234
|
0.00002
|
|
NM_001267550.2(TTN):c.21689C>T (p.Ala7230Val)
|
rs761223583
|
0.00002
|
|
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp)
|
rs375627540
|
0.00002
|
|
NM_001267550.2(TTN):c.22628C>T (p.Pro7543Leu)
|
rs560272834
|
0.00002
|
|
NM_001267550.2(TTN):c.2301A>G (p.Arg767=)
|
rs746831560
|
0.00002
|
|
NM_001267550.2(TTN):c.23076C>T (p.Cys7692=)
|
rs769505705
|
0.00002
|
|
NM_001267550.2(TTN):c.26557G>C (p.Val8853Leu)
|
rs757381520
|
0.00002
|
|
NM_001267550.2(TTN):c.26599G>A (p.Gly8867Arg)
|
rs762113080
|
0.00002
|
|
NM_001267550.2(TTN):c.26765G>A (p.Arg8922Gln)
|
rs397517520
|
0.00002
|
|
NM_001267550.2(TTN):c.26932G>C (p.Asp8978His)
|
rs773744166
|
0.00002
|
|
NM_001267550.2(TTN):c.26985C>A (p.Asp8995Glu)
|
rs781351100
|
0.00002
|
|
NM_001267550.2(TTN):c.27592C>G (p.Gln9198Glu)
|
rs72648995
|
0.00002
|
|
NM_001267550.2(TTN):c.28175-10C>T
|
rs748478445
|
0.00002
|
|
NM_001267550.2(TTN):c.28754-11T>C
|
rs146738622
|
0.00002
|
|
NM_001267550.2(TTN):c.29219A>G (p.Asn9740Ser)
|
rs753121692
|
0.00002
|
|
NM_001267550.2(TTN):c.29397C>T (p.Gly9799=)
|
rs770084292
|
0.00002
|
|
NM_001267550.2(TTN):c.29937C>T (p.Ile9979=)
|
rs878892843
|
0.00002
|
|
NM_001267550.2(TTN):c.32021T>C (p.Leu10674Pro)
|
rs762662455
|
0.00002
|
|
NM_001267550.2(TTN):c.32471-6C>T
|
rs763361422
|
0.00002
|
|
NM_001267550.2(TTN):c.34925C>T (p.Ala11642Val)
|
rs375391365
|
0.00002
|
|
NM_001267550.2(TTN):c.39085C>A (p.Pro13029Thr)
|
rs397517553
|
0.00002
|
|
NM_001267550.2(TTN):c.39099T>C (p.Pro13033=)
|
rs755793186
|
0.00002
|
|
NM_001267550.2(TTN):c.39368C>T (p.Ala13123Val)
|
rs761828404
|
0.00002
|
|
NM_001267550.2(TTN):c.39469G>A (p.Glu13157Lys)
|
rs761974767
|
0.00002
|
|
NM_001267550.2(TTN):c.39786A>G (p.Glu13262=)
|
rs398124450
|
0.00002
|
|
NM_001267550.2(TTN):c.39802G>T (p.Val13268Phe)
|
rs759268958
|
0.00002
|
|
NM_001267550.2(TTN):c.3989G>A (p.Arg1330His)
|
rs761402128
|
0.00002
|
|
NM_001267550.2(TTN):c.40989T>C (p.Ser13663=)
|
rs369178648
|
0.00002
|
|
NM_001267550.2(TTN):c.42687C>T (p.Ala14229=)
|
rs775889693
|
0.00002
|
|
NM_001267550.2(TTN):c.427G>A (p.Glu143Lys)
|
rs754182768
|
0.00002
|
|
NM_001267550.2(TTN):c.42892G>A (p.Glu14298Lys)
|
rs778634417
|
0.00002
|
|
NM_001267550.2(TTN):c.42933T>C (p.Asn14311=)
|
rs148528251
|
0.00002
|
|
NM_001267550.2(TTN):c.43326A>G (p.Lys14442=)
|
rs878977270
|
0.00002
|
|
NM_001267550.2(TTN):c.43604G>A (p.Arg14535His)
|
rs764250397
|
0.00002
|
|
NM_001267550.2(TTN):c.46373G>A (p.Cys15458Tyr)
|
rs377564388
|
0.00002
|
|
NM_001267550.2(TTN):c.46564G>C (p.Gly15522Arg)
|
rs750435043
|
0.00002
|
|
NM_001267550.2(TTN):c.47766C>T (p.Thr15922=)
|
rs757006832
|
0.00002
|
|
NM_001267550.2(TTN):c.47887A>G (p.Met15963Val)
|
rs397517590
|
0.00002
|
|
NM_001267550.2(TTN):c.4889C>T (p.Ala1630Val)
|
rs371601918
|
0.00002
|
|
NM_001267550.2(TTN):c.49213G>A (p.Val16405Ile)
|
rs570644860
|
0.00002
|
|
NM_001267550.2(TTN):c.49570C>T (p.Arg16524Cys)
|
rs779336886
|
0.00002
|
|
NM_001267550.2(TTN):c.49701A>G (p.Ser16567=)
|
rs369646977
|
0.00002
|
|
NM_001267550.2(TTN):c.53261T>C (p.Phe17754Ser)
|
rs749312983
|
0.00002
|
|
NM_001267550.2(TTN):c.53443A>G (p.Ile17815Val)
|
rs368065637
|
0.00002
|
|
NM_001267550.2(TTN):c.5373C>A (p.Thr1791=)
|
rs727503693
|
0.00002
|
|
NM_001267550.2(TTN):c.54314G>A (p.Arg18105His)
|
rs760383112
|
0.00002
|
|
NM_001267550.2(TTN):c.54494G>A (p.Arg18165His)
|
rs574313741
|
0.00002
|
|
NM_001267550.2(TTN):c.574C>T (p.Leu192=)
|
rs767983460
|
0.00002
|
|
NM_001267550.2(TTN):c.58137C>T (p.Cys19379=)
|
rs376310289
|
0.00002
|
|
NM_001267550.2(TTN):c.59534G>A (p.Arg19845His)
|
rs201457934
|
0.00002
|
|
NM_001267550.2(TTN):c.59937G>A (p.Gly19979=)
|
rs727505101
|
0.00002
|
|
NM_001267550.2(TTN):c.61825C>T (p.Arg20609Cys)
|
rs786205389
|
0.00002
|
|
NM_001267550.2(TTN):c.61963G>A (p.Glu20655Lys)
|
rs776314797
|
0.00002
|
|
NM_001267550.2(TTN):c.62995T>G (p.Phe20999Val)
|
rs568886353
|
0.00002
|
|
NM_001267550.2(TTN):c.63558G>A (p.Val21186=)
|
rs200261892
|
0.00002
|
|
NM_001267550.2(TTN):c.64101G>A (p.Pro21367=)
|
rs397517657
|
0.00002
|
|
NM_001267550.2(TTN):c.64338T>C (p.Ala21446=)
|
rs371514555
|
0.00002
|
|
NM_001267550.2(TTN):c.64720G>A (p.Ala21574Thr)
|
rs578085621
|
0.00002
|
|
NM_001267550.2(TTN):c.6478A>G (p.Thr2160Ala)
|
rs397517693
|
0.00002
|
|
NM_001267550.2(TTN):c.65300T>C (p.Ile21767Thr)
|
rs762578274
|
0.00002
|
|
NM_001267550.2(TTN):c.65319T>C (p.Thr21773=)
|
rs746956869
|
0.00002
|
|
NM_001267550.2(TTN):c.65566G>A (p.Ala21856Thr)
|
rs752176305
|
0.00002
|
|
NM_001267550.2(TTN):c.66349G>A (p.Ala22117Thr)
|
rs727505036
|
0.00002
|
|
NM_001267550.2(TTN):c.66372C>T (p.Thr22124=)
|
rs756981729
|
0.00002
|
|
NM_001267550.2(TTN):c.67146C>T (p.Gly22382=)
|
rs770418172
|
0.00002
|
|
NM_001267550.2(TTN):c.67444C>T (p.Arg22482Trp)
|
rs563233842
|
0.00002
|
|
NM_001267550.2(TTN):c.68632G>A (p.Val22878Met)
|
rs764263517
|
0.00002
|
|
NM_001267550.2(TTN):c.6945A>G (p.Thr2315=)
|
rs879103814
|
0.00002
|
|
NM_001267550.2(TTN):c.69554G>A (p.Arg23185Gln)
|
rs201448988
|
0.00002
|
|
NM_001267550.2(TTN):c.70260G>A (p.Pro23420=)
|
rs72646887
|
0.00002
|
|
NM_001267550.2(TTN):c.70435C>T (p.Arg23479Trp)
|
rs760509116
|
0.00002
|
|
NM_001267550.2(TTN):c.70983G>A (p.Pro23661=)
|
rs568193318
|
0.00002
|
|
NM_001267550.2(TTN):c.71608G>A (p.Gly23870Ser)
|
rs727503564
|
0.00002
|
|
NM_001267550.2(TTN):c.71903A>C (p.Asn23968Thr)
|
rs769320596
|
0.00002
|
|
NM_001267550.2(TTN):c.732C>T (p.Ala244=)
|
rs761859812
|
0.00002
|
|
NM_001267550.2(TTN):c.73426G>A (p.Glu24476Lys)
|
rs760487688
|
0.00002
|
|
NM_001267550.2(TTN):c.7392T>C (p.Leu2464=)
|
rs565784637
|
0.00002
|
|
NM_001267550.2(TTN):c.74378C>T (p.Ser24793Leu)
|
rs766741890
|
0.00002
|
|
NM_001267550.2(TTN):c.74413G>A (p.Val24805Ile)
|
rs371306826
|
0.00002
|
|
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly)
|
rs573415766
|
0.00002
|
|
NM_001267550.2(TTN):c.74564C>T (p.Thr24855Ile)
|
rs759432194
|
0.00002
|
|
NM_001267550.2(TTN):c.7524T>C (p.His2508=)
|
rs2291307
|
0.00002
|
|
NM_001267550.2(TTN):c.76070G>A (p.Arg25357His)
|
rs397517703
|
0.00002
|
|
NM_001267550.2(TTN):c.76482C>T (p.Asp25494=)
|
rs370908118
|
0.00002
|
|
NM_001267550.2(TTN):c.77471G>A (p.Arg25824His)
|
rs376051922
|
0.00002
|
|
NM_001267550.2(TTN):c.78508G>A (p.Gly26170Ser)
|
rs781248790
|
0.00002
|
|
NM_001267550.2(TTN):c.79545C>T (p.Gly26515=)
|
rs761713195
|
0.00002
|
|
NM_001267550.2(TTN):c.79865C>T (p.Pro26622Leu)
|
rs532706350
|
0.00002
|
|
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met)
|
rs377506142
|
0.00002
|
|
NM_001267550.2(TTN):c.81850G>A (p.Val27284Ile)
|
rs746222222
|
0.00002
|
|
NM_001267550.2(TTN):c.82582C>T (p.Arg27528Trp)
|
rs749852593
|
0.00002
|
|
NM_001267550.2(TTN):c.83198T>C (p.Ile27733Thr)
|
rs759928014
|
0.00002
|
|
NM_001267550.2(TTN):c.85072A>T (p.Met28358Leu)
|
rs368069666
|
0.00002
|
|
NM_001267550.2(TTN):c.85421G>A (p.Arg28474His)
|
rs754356257
|
0.00002
|
|
NM_001267550.2(TTN):c.86024C>T (p.Pro28675Leu)
|
rs766419568
|
0.00002
|
|
NM_001267550.2(TTN):c.86045C>T (p.Pro28682Leu)
|
rs760467197
|
0.00002
|
|
NM_001267550.2(TTN):c.87263C>T (p.Thr29088Ile)
|
rs565333965
|
0.00002
|
|
NM_001267550.2(TTN):c.87341G>A (p.Arg29114Lys)
|
rs1253866874
|
0.00002
|
|
NM_001267550.2(TTN):c.87805G>A (p.Val29269Ile)
|
rs727503551
|
0.00002
|
|
NM_001267550.2(TTN):c.89735T>C (p.Leu29912Pro)
|
rs748326514
|
0.00002
|
|
NM_001267550.2(TTN):c.91343G>A (p.Arg30448His)
|
rs374474227
|
0.00002
|
|
NM_001267550.2(TTN):c.9306-4A>G
|
rs757164431
|
0.00002
|
|
NM_001267550.2(TTN):c.95743G>T (p.Ala31915Ser)
|
rs1490243211
|
0.00002
|
|
NM_001267550.2(TTN):c.95873G>A (p.Arg31958Gln)
|
rs763270971
|
0.00002
|
|
NM_001267550.2(TTN):c.97605T>G (p.Ile32535Met)
|
rs760676361
|
0.00002
|
|
NM_001267550.2(TTN):c.99254G>A (p.Arg33085His)
|
rs777035261
|
0.00002
|
|
NM_001267550.2(TTN):c.99581C>T (p.Pro33194Leu)
|
rs140025425
|
0.00002
|
|
NM_001271.4(CHD2):c.225C>G (p.Ser75=)
|
rs144667627
|
0.00002
|
|
NM_001271.4(CHD2):c.568C>T (p.Arg190Cys)
|
rs540770153
|
0.00002
|
|
NM_001276345.2(TNNT2):c.391G>A (p.Val131Ile)
|
rs537067344
|
0.00002
|
|
NM_001277115.2(DNAH11):c.1053G>A (p.Glu351=)
|
rs201475447
|
0.00002
|
|
NM_001277115.2(DNAH11):c.3790A>G (p.Arg1264Gly)
|
rs749057056
|
0.00002
|
|
NM_001277115.2(DNAH11):c.5501G>A (p.Arg1834His)
|
rs750430725
|
0.00002
|
|
NM_001277115.2(DNAH11):c.643C>T (p.Pro215Ser)
|
rs995773912
|
0.00002
|
|
NM_001278116.2(L1CAM):c.1433C>A (p.Ala478Asp)
|
rs1298830102
|
0.00002
|
|
NM_001278116.2(L1CAM):c.3015C>T (p.Ile1005=)
|
rs202082978
|
0.00002
|
|
NM_001278716.2(FBXL4):c.766G>A (p.Gly256Ser)
|
rs765912815
|
0.00002
|
|
NM_001291303.3(FAT4):c.14169G>T (p.Leu4723Phe)
|
rs760377475
|
0.00002
|
|
NM_001291303.3(FAT4):c.4964G>A (p.Ser1655Asn)
|
rs572010193
|
0.00002
|
|
NM_001291303.3(FAT4):c.7966A>C (p.Lys2656Gln)
|
rs760398912
|
0.00002
|
|
NM_001292063.2(OTOG):c.3526-12G>C
|
rs749205983
|
0.00002
|
|
NM_001297.5(CNGB1):c.1482T>C (p.Ser494=)
|
rs769840807
|
0.00002
|
|
NM_001303256.3(MORC2):c.187A>T (p.Met63Leu)
|
rs748092969
|
0.00002
|
|
NM_001308093.3(GATA4):c.1070G>T (p.Ser357Ile)
|
rs1014543362
|
0.00002
|
|
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=)
|
rs756986206
|
0.00002
|
|
NM_001323289.2(CDKL5):c.1616G>C (p.Arg539Thr)
|
rs1356745875
|
0.00002
|
|
NM_001323289.2(CDKL5):c.2408C>T (p.Thr803Met)
|
rs1005844306
|
0.00002
|
|
NM_001330.5(CTF1):c.83G>A (p.Arg28His)
|
rs201703547
|
0.00002
|
|
NM_001330078.2(NRXN1):c.1320+10G>A
|
rs113028018
|
0.00002
|
|
NM_001330260.2(SCN8A):c.1876T>C (p.Ser626Pro)
|
rs753009673
|
0.00002
|
|
NM_001330260.2(SCN8A):c.4719G>A (p.Met1573Ile)
|
rs780940263
|
0.00002
|
|
NM_001330360.2(POLA1):c.568A>G (p.Lys190Glu)
|
rs779545243
|
0.00002
|
|
NM_001330691.3(CEP78):c.120G>C (p.Glu40Asp)
|
rs746861398
|
0.00002
|
|
NM_001347721.2(DYRK1A):c.1705A>G (p.Thr569Ala)
|
rs774075762
|
0.00002
|
|
NM_001349206.2(LPIN1):c.1044C>T (p.Ser348=)
|
rs775088748
|
0.00002
|
|
NM_001349338.3(FOXP1):c.316G>A (p.Val106Ile)
|
rs755709669
|
0.00002
|
|
NM_001351132.2(PEX5):c.1111-4C>G
|
rs376699778
|
0.00002
|
|
NM_001352514.2(HLCS):c.2340C>T (p.Ala780=)
|
rs760265551
|
0.00002
|
|
NM_001353214.3(DYM):c.288-10G>A
|
rs557407004
|
0.00002
|
|
NM_001355436.2(SPTB):c.3311C>G (p.Ala1104Gly)
|
rs374648585
|
0.00002
|
|
NM_001356.5(DDX3X):c.1315+5C>T
|
rs368731454
|
0.00002
|
|
NM_001356.5(DDX3X):c.251T>G (p.Phe84Cys)
|
rs892274119
|
0.00002
|
|
NM_001358530.2(MOCS1):c.334C>T (p.Arg112Trp)
|
rs757431407
|
0.00002
|
|
NM_001358921.2(COQ2):c.868C>T (p.Leu290=)
|
rs375066516
|
0.00002
|
|
NM_001360.3(DHCR7):c.99-11C>T
|
rs371964662
|
0.00002
|
|
NM_001360016.2(G6PD):c.477G>C (p.Met159Ile)
|
rs370918918
|
0.00002
|
|
NM_001365088.1(SLC12A6):c.2385C>T (p.Val795=)
|
rs562984167
|
0.00002
|
|
NM_001365088.1(SLC12A6):c.576C>T (p.Tyr192=)
|
rs774081365
|
0.00002
|
|
NM_001365088.1(SLC12A6):c.849C>T (p.Tyr283=)
|
rs753466496
|
0.00002
|
|
NM_001365276.2(TNXB):c.3637G>A (p.Val1213Ile)
|
rs774582576
|
0.00002
|
|
NM_001365276.2(TNXB):c.7774G>A (p.Gly2592Ser)
|
rs767643312
|
0.00002
|
|
NM_001365276.2(TNXB):c.9080A>G (p.Gln3027Arg)
|
rs767216957
|
0.00002
|
|
NM_001365536.1(SCN9A):c.2496A>C (p.Ser832=)
|
rs200185692
|
0.00002
|
|
NM_001367624.2(ZNF469):c.10543G>A (p.Val3515Met)
|
rs535466651
|
0.00002
|
|
NM_001367624.2(ZNF469):c.3030C>G (p.Pro1010=)
|
rs1245818626
|
0.00002
|
|
NM_001367624.2(ZNF469):c.5564A>G (p.Asn1855Ser)
|
rs1196406851
|
0.00002
|
|
NM_001367624.2(ZNF469):c.61C>T (p.Arg21Cys)
|
rs754101639
|
0.00002
|
|
NM_001367624.2(ZNF469):c.6481G>A (p.Gly2161Ser)
|
rs944778197
|
0.00002
|
|
NM_001367624.2(ZNF469):c.664G>A (p.Gly222Ser)
|
rs975247998
|
0.00002
|
|
NM_001367624.2(ZNF469):c.8260G>A (p.Gly2754Arg)
|
rs568379728
|
0.00002
|
|
NM_001367721.1(CASK):c.1419A>G (p.Pro473=)
|
rs764194945
|
0.00002
|
|
NM_001367721.1(CASK):c.1714C>T (p.Arg572Cys)
|
rs1421702106
|
0.00002
|
|
NM_001368067.1(LDB3):c.456G>A (p.Ala152=)
|
rs371708921
|
0.00002
|
|
NM_001369.3(DNAH5):c.100G>A (p.Asp34Asn)
|
rs1215107095
|
0.00002
|
|
NM_001369.3(DNAH5):c.10195G>A (p.Val3399Ile)
|
rs749397968
|
0.00002
|
|
NM_001369.3(DNAH5):c.11130T>C (p.Arg3710=)
|
rs765391783
|
0.00002
|
|
NM_001369.3(DNAH5):c.11438G>A (p.Arg3813Gln)
|
rs143612682
|
0.00002
|
|
NM_001369.3(DNAH5):c.12076G>A (p.Glu4026Lys)
|
rs776854779
|
0.00002
|
|
NM_001369.3(DNAH5):c.12727C>T (p.Arg4243Cys)
|
rs150357258
|
0.00002
|
|
NM_001369.3(DNAH5):c.13005C>T (p.Thr4335=)
|
rs755271975
|
0.00002
|
|
NM_001369.3(DNAH5):c.13276G>A (p.Glu4426Lys)
|
rs777295839
|
0.00002
|
|
NM_001369.3(DNAH5):c.1823C>G (p.Thr608Arg)
|
rs781059966
|
0.00002
|
|
NM_001369.3(DNAH5):c.1892G>A (p.Arg631His)
|
rs370272258
|
0.00002
|
|
NM_001369.3(DNAH5):c.2048G>A (p.Arg683Gln)
|
rs142373364
|
0.00002
|
|
NM_001369.3(DNAH5):c.378A>G (p.Val126=)
|
rs377275027
|
0.00002
|
|
NM_001369.3(DNAH5):c.4319A>C (p.Glu1440Ala)
|
rs147322363
|
0.00002
|
|
NM_001369.3(DNAH5):c.4480C>T (p.Arg1494Trp)
|
rs535366955
|
0.00002
|
|
NM_001369.3(DNAH5):c.4877T>C (p.Met1626Thr)
|
rs753163103
|
0.00002
|
|
NM_001369.3(DNAH5):c.4880C>T (p.Thr1627Met)
|
rs745381842
|
0.00002
|
|
NM_001369.3(DNAH5):c.4936A>C (p.Lys1646Gln)
|
rs775506164
|
0.00002
|
|
NM_001369.3(DNAH5):c.536C>T (p.Thr179Met)
|
rs747116308
|
0.00002
|
|
NM_001369.3(DNAH5):c.5642C>T (p.Thr1881Met)
|
rs190749755
|
0.00002
|
|
NM_001369.3(DNAH5):c.6167A>T (p.Lys2056Ile)
|
rs578128759
|
0.00002
|
|
NM_001369.3(DNAH5):c.6381C>T (p.Asn2127=)
|
rs767344710
|
0.00002
|
|
NM_001369.3(DNAH5):c.660+10A>G
|
rs750383077
|
0.00002
|
|
NM_001369.3(DNAH5):c.6911G>A (p.Arg2304Gln)
|
rs558294959
|
0.00002
|
|
NM_001369.3(DNAH5):c.8184T>G (p.Asn2728Lys)
|
rs1469012975
|
0.00002
|
|
NM_001369.3(DNAH5):c.8236G>T (p.Val2746Leu)
|
rs773643407
|
0.00002
|
|
NM_001369.3(DNAH5):c.841G>A (p.Val281Ile)
|
rs548585661
|
0.00002
|
|
NM_001369.3(DNAH5):c.8948C>T (p.Thr2983Met)
|
rs750809719
|
0.00002
|
|
NM_001369.3(DNAH5):c.9111T>C (p.Ser3037=)
|
rs765029802
|
0.00002
|
|
NM_001369.3(DNAH5):c.9236G>A (p.Arg3079Gln)
|
rs752552477
|
0.00002
|
|
NM_001369.3(DNAH5):c.9444C>T (p.Cys3148=)
|
rs543265562
|
0.00002
|
|
NM_001369268.1(ACAN):c.553C>A (p.Pro185Thr)
|
rs751285545
|
0.00002
|
|
NM_001369369.1(FOXN1):c.147G>A (p.Ser49=)
|
rs148006498
|
0.00002
|
|
NM_001370259.2(MEN1):c.1522C>A (p.Gln508Lys)
|
rs386833403
|
0.00002
|
|
NM_001370466.1(NOD2):c.1340A>G (p.Gln447Arg)
|
rs367819045
|
0.00002
|
|
NM_001370466.1(NOD2):c.2767A>C (p.Met923Leu)
|
rs527892258
|
0.00002
|
|
NM_001370658.1(BTD):c.1425C>A (p.Ile475=)
|
rs780182371
|
0.00002
|
|
NM_001371279.1(REEP1):c.408T>A (p.Ala136=)
|
rs368965566
|
0.00002
|
|
NM_001371928.1(AHDC1):c.1675G>A (p.Gly559Ser)
|
rs765994795
|
0.00002
|
|
NM_001371928.1(AHDC1):c.218G>A (p.Arg73His)
|
rs745907116
|
0.00002
|
|
NM_001372051.1(CASP8):c.843C>A (p.Ile281=)
|
rs199934929
|
0.00002
|
|
NM_001374353.1(GLI2):c.1481C>T (p.Ser494Leu)
|
rs372925840
|
0.00002
|
|
NM_001374385.1(ATP8B1):c.1029+5T>C
|
rs200663890
|
0.00002
|
|
NM_001374385.1(ATP8B1):c.3532-8C>G
|
rs1322207888
|
0.00002
|
|
NM_001374385.1(ATP8B1):c.3553T>C (p.Leu1185=)
|
rs751410046
|
0.00002
|
|
NM_001374828.1(ARID1B):c.2615T>C (p.Met872Thr)
|
rs761093701
|
0.00002
|
|
NM_001374828.1(ARID1B):c.5096C>T (p.Pro1699Leu)
|
rs1455506883
|
0.00002
|
|
NM_001374828.1(ARID1B):c.5914C>A (p.Pro1972Thr)
|
rs779490460
|
0.00002
|
|
NM_001375524.1(TRRAP):c.4405-5A>G
|
rs782409632
|
0.00002
|
|
NM_001375808.2(LPIN2):c.1347C>T (p.Ser449=)
|
rs773074044
|
0.00002
|
|
NM_001376.5(DYNC1H1):c.10575T>C (p.Arg3525=)
|
rs763119040
|
0.00002
|
|
NM_001376.5(DYNC1H1):c.10833G>C (p.Arg3611=)
|
rs35143882
|
0.00002
|
|
NM_001376.5(DYNC1H1):c.11056-10A>G
|
rs751676054
|
0.00002
|
|
NM_001376.5(DYNC1H1):c.12450G>A (p.Pro4150=)
|
rs749647281
|
0.00002
|
|
NM_001376.5(DYNC1H1):c.2352C>T (p.Ser784=)
|
rs149028205
|
0.00002
|
|
NM_001376.5(DYNC1H1):c.3033A>G (p.Glu1011=)
|
rs755543897
|
0.00002
|
|
NM_001376.5(DYNC1H1):c.5424A>G (p.Leu1808=)
|
rs770425304
|
0.00002
|
|
NM_001376.5(DYNC1H1):c.6339G>A (p.Arg2113=)
|
rs776544497
|
0.00002
|
|
NM_001376.5(DYNC1H1):c.7077C>T (p.Cys2359=)
|
rs200885538
|
0.00002
|
|
NM_001376.5(DYNC1H1):c.7225G>A (p.Ala2409Thr)
|
rs566204008
|
0.00002
|
|
NM_001377.3(DYNC2H1):c.4127+10A>G
|
rs369188420
|
0.00002
|
|
NM_001377.3(DYNC2H1):c.5212G>A (p.Gly1738Ser)
|
rs370669724
|
0.00002
|
|
NM_001377299.1(NDUFS2):c.1324C>T (p.His442Tyr)
|
rs201897431
|
0.00002
|
|
NM_001378120.1(MBD5):c.258C>T (p.Thr86=)
|
rs542137271
|
0.00002
|
|
NM_001378120.1(MBD5):c.2789A>C (p.Gln930Pro)
|
rs564759063
|
0.00002
|
|
NM_001378454.1(ALMS1):c.10020G>A (p.Arg3340=)
|
rs746166271
|
0.00002
|
|
NM_001378454.1(ALMS1):c.10224T>C (p.Ala3408=)
|
rs1464934308
|
0.00002
|
|
NM_001378454.1(ALMS1):c.10461C>T (p.Pro3487=)
|
rs202036843
|
0.00002
|
|
NM_001378454.1(ALMS1):c.11668+17A>G
|
rs201109126
|
0.00002
|
|
NM_001378454.1(ALMS1):c.12363-12G>A
|
rs749504196
|
0.00002
|
|
NM_001378454.1(ALMS1):c.1238-20A>G
|
rs771811655
|
0.00002
|
|
NM_001378454.1(ALMS1):c.2961G>A (p.Leu987=)
|
rs745503022
|
0.00002
|
|
NM_001378454.1(ALMS1):c.5532C>T (p.Asn1844=)
|
rs369656698
|
0.00002
|
|
NM_001378454.1(ALMS1):c.5765T>C (p.Val1922Ala)
|
rs761428155
|
0.00002
|
|
NM_001378454.1(ALMS1):c.717G>A (p.Ala239=)
|
rs373972884
|
0.00002
|
|
NM_001378454.1(ALMS1):c.7541-6C>T
|
rs1408073039
|
0.00002
|
|
NM_001378454.1(ALMS1):c.765-12A>G
|
rs200209691
|
0.00002
|
|
NM_001378454.1(ALMS1):c.813G>A (p.Ser271=)
|
rs775482774
|
0.00002
|
|
NM_001378454.1(ALMS1):c.8684G>A (p.Arg2895His)
|
rs755542969
|
0.00002
|
|
NM_001378454.1(ALMS1):c.9075A>G (p.Pro3025=)
|
rs1278648561
|
0.00002
|
|
NM_001378609.3(OTOGL):c.3263A>G (p.Asp1088Gly)
|
rs12422945
|
0.00002
|
|
NM_001378609.3(OTOGL):c.4234A>G (p.Met1412Val)
|
rs774172292
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.1497A>G (p.Gln499=)
|
rs368116362
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3054G>A (p.Lys1018=)
|
rs377575861
|
0.00002
|
|
NM_001378964.1(CDON):c.2159-14G>A
|
rs752818698
|
0.00002
|
|
NM_001384140.1(PCDH15):c.1591C>T (p.Leu531Phe)
|
rs750009006
|
0.00002
|
|
NM_001384140.1(PCDH15):c.3009+7G>A
|
rs201161336
|
0.00002
|
|
NM_001384474.1(LOXHD1):c.6333C>T (p.Tyr2111=)
|
rs374858340
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.4246G>A (p.Val1416Met)
|
rs376365094
|
0.00002
|
|
NM_001386393.1(PANK2):c.694T>C (p.Leu232=)
|
rs143090515
|
0.00002
|
|
NM_001386393.1(PANK2):c.744A>C (p.Ser248=)
|
rs778370524
|
0.00002
|
|
NM_001395413.1(POR):c.1143G>A (p.Pro381=)
|
rs375444057
|
0.00002
|
|
NM_001395413.1(POR):c.1389+10G>A
|
rs782345141
|
0.00002
|
|
NM_001395413.1(POR):c.1926C>T (p.Thr642=)
|
rs557596726
|
0.00002
|
|
NM_001399.5(EDA):c.396+10C>T
|
rs754163471
|
0.00002
|
|
NM_001457.4(FLNB):c.1402C>T (p.Arg468Cys)
|
rs139664696
|
0.00002
|
|
NM_001457.4(FLNB):c.1628T>C (p.Val543Ala)
|
rs773177128
|
0.00002
|
|
NM_001457.4(FLNB):c.1897A>G (p.Met633Val)
|
rs937051879
|
0.00002
|
|
NM_001457.4(FLNB):c.2098A>C (p.Met700Leu)
|
rs762991925
|
0.00002
|
|
NM_001457.4(FLNB):c.2529C>T (p.His843=)
|
rs762942290
|
0.00002
|
|
NM_001457.4(FLNB):c.3325G>A (p.Val1109Ile)
|
rs200947960
|
0.00002
|
|
NM_001457.4(FLNB):c.5051A>G (p.Tyr1684Cys)
|
rs376280025
|
0.00002
|
|
NM_001457.4(FLNB):c.5188G>A (p.Glu1730Lys)
|
rs773991765
|
0.00002
|
|
NM_001457.4(FLNB):c.6108C>T (p.Ser2036=)
|
rs767210448
|
0.00002
|
|
NM_001457.4(FLNB):c.6497C>T (p.Thr2166Met)
|
rs199939739
|
0.00002
|
|
NM_001457.4(FLNB):c.7167C>T (p.Ala2389=)
|
rs781119139
|
0.00002
|
|
NM_001458.5(FLNC):c.2008-7C>T
|
rs767576240
|
0.00002
|
|
NM_001458.5(FLNC):c.2311G>A (p.Gly771Ser)
|
rs1031265089
|
0.00002
|
|
NM_001458.5(FLNC):c.3022C>T (p.Arg1008Cys)
|
rs757969015
|
0.00002
|
|
NM_001458.5(FLNC):c.3243G>A (p.Ala1081=)
|
rs534482249
|
0.00002
|
|
NM_001458.5(FLNC):c.3295G>A (p.Val1099Ile)
|
rs759452636
|
0.00002
|
|
NM_001458.5(FLNC):c.3372G>A (p.Thr1124=)
|
rs556913973
|
0.00002
|
|
NM_001458.5(FLNC):c.3812C>G (p.Thr1271Ser)
|
rs778997084
|
0.00002
|
|
NM_001458.5(FLNC):c.4073C>G (p.Pro1358Arg)
|
rs769586047
|
0.00002
|
|
NM_001458.5(FLNC):c.4699C>T (p.Arg1567Trp)
|
rs369842920
|
0.00002
|
|
NM_001458.5(FLNC):c.4705G>A (p.Ala1569Thr)
|
rs768737324
|
0.00002
|
|
NM_001458.5(FLNC):c.5278G>A (p.Gly1760Ser)
|
rs150986092
|
0.00002
|
|
NM_001458.5(FLNC):c.5375C>T (p.Ala1792Val)
|
rs200233856
|
0.00002
|
|
NM_001458.5(FLNC):c.7228C>T (p.Arg2410Cys)
|
rs750686083
|
0.00002
|
|
NM_001458.5(FLNC):c.7310G>A (p.Arg2437Gln)
|
rs201762568
|
0.00002
|
|
NM_001458.5(FLNC):c.8070G>T (p.Arg2690=)
|
rs373087529
|
0.00002
|
|
NM_001498.4(GCLC):c.12G>A (p.Leu4=)
|
rs201410638
|
0.00002
|
|
NM_001540.5(HSPB1):c.216C>T (p.Ala72=)
|
rs11547168
|
0.00002
|
|
NM_001692.4(ATP6V1B1):c.1089G>A (p.Thr363=)
|
rs782584396
|
0.00002
|
|
NM_001692.4(ATP6V1B1):c.1276G>A (p.Val426Met)
|
rs531239712
|
0.00002
|
|
NM_001696.4(ATP6V1E1):c.367-4C>T
|
rs746489312
|
0.00002
|
|
NM_001698.3(AUH):c.655+7G>A
|
rs748099966
|
0.00002
|
|
NM_001701.4(BAAT):c.102A>T (p.Ala34=)
|
rs774722346
|
0.00002
|
|
NM_001701.4(BAAT):c.903A>T (p.Thr301=)
|
rs767910529
|
0.00002
|
|
NM_001754.5(RUNX1):c.96C>T (p.His32=)
|
rs748758482
|
0.00002
|
|
NM_001807.6(CEL):c.400G>A (p.Gly134Ser)
|
rs377284693
|
0.00002
|
|
NM_001844.5(COL2A1):c.1001G>A (p.Arg334Gln)
|
rs765231668
|
0.00002
|
|
NM_001844.5(COL2A1):c.1138A>G (p.Thr380Ala)
|
rs748511528
|
0.00002
|
|
NM_001844.5(COL2A1):c.1481G>A (p.Arg494His)
|
rs766574999
|
0.00002
|
|
NM_001844.5(COL2A1):c.157C>G (p.Arg53Gly)
|
rs776744207
|
0.00002
|
|
NM_001844.5(COL2A1):c.1743T>C (p.Pro581=)
|
rs755517458
|
0.00002
|
|
NM_001844.5(COL2A1):c.196G>A (p.Asp66Asn)
|
rs976006680
|
0.00002
|
|
NM_001844.5(COL2A1):c.3115A>G (p.Ser1039Gly)
|
rs780375782
|
0.00002
|
|
NM_001844.5(COL2A1):c.3637C>T (p.Pro1213Ser)
|
rs886626700
|
0.00002
|
|
NM_001844.5(COL2A1):c.409C>T (p.Arg137Cys)
|
rs762357071
|
0.00002
|
|
NM_001844.5(COL2A1):c.4250A>G (p.Asn1417Ser)
|
rs537186508
|
0.00002
|
|
NM_001844.5(COL2A1):c.4265G>A (p.Arg1422Gln)
|
rs745349011
|
0.00002
|
|
NM_001844.5(COL2A1):c.4290G>A (p.Thr1430=)
|
rs554488169
|
0.00002
|
|
NM_001845.6(COL4A1):c.1056G>A (p.Pro352=)
|
rs531373470
|
0.00002
|
|
NM_001845.6(COL4A1):c.1897+7C>G
|
rs773791331
|
0.00002
|
|
NM_001845.6(COL4A1):c.1990+4C>T
|
rs771634502
|
0.00002
|
|
NM_001848.3(COL6A1):c.2712C>T (p.Val904=)
|
rs780582491
|
0.00002
|
|
NM_001848.3(COL6A1):c.2797G>A (p.Gly933Ser)
|
rs201835072
|
0.00002
|
|
NM_001848.3(COL6A1):c.717C>T (p.Ile239=)
|
rs775349013
|
0.00002
|
|
NM_001848.3(COL6A1):c.821C>T (p.Pro274Leu)
|
rs201093313
|
0.00002
|
|
NM_001848.3(COL6A1):c.859-18T>A
|
rs398123641
|
0.00002
|
|
NM_001849.4(COL6A2):c.1945G>A (p.Ala649Thr)
|
rs142002945
|
0.00002
|
|
NM_001852.4(COL9A2):c.1287+5C>T
|
rs997566626
|
0.00002
|
|
NM_001852.4(COL9A2):c.1857C>G (p.Pro619=)
|
rs771660985
|
0.00002
|
|
NM_001853.4(COL9A3):c.1282G>A (p.Asp428Asn)
|
rs562245450
|
0.00002
|
|
NM_001854.4(COL11A1):c.1051C>A (p.Gln351Lys)
|
rs761451204
|
0.00002
|
|
NM_001854.4(COL11A1):c.1309-7G>A
|
rs748684225
|
0.00002
|
|
NM_001854.4(COL11A1):c.2520A>G (p.Pro840=)
|
rs942911563
|
0.00002
|
|
NM_001854.4(COL11A1):c.4233C>T (p.Gly1411=)
|
rs139726483
|
0.00002
|
|
NM_001854.4(COL11A1):c.4320T>C (p.Pro1440=)
|
rs762511819
|
0.00002
|
|
NM_001875.5(CPS1):c.2611A>T (p.Thr871Ser)
|
rs750006303
|
0.00002
|
|
NM_001875.5(CPS1):c.436A>G (p.Thr146Ala)
|
rs747085519
|
0.00002
|
|
NM_001876.4(CPT1A):c.432T>C (p.Ser144=)
|
rs751979703
|
0.00002
|
|
NM_001927.4(DES):c.708C>T (p.Ile236=)
|
rs886044078
|
0.00002
|
|
NM_001939.3(DRP2):c.653G>A (p.Arg218His)
|
rs368516281
|
0.00002
|
|
NM_001943.5(DSG2):c.2339C>T (p.Ala780Val)
|
rs547406532
|
0.00002
|
|
NM_001943.5(DSG2):c.86T>C (p.Leu29Ser)
|
rs786205361
|
0.00002
|
|
NM_001953.5(TYMP):c.1170G>C (p.Glu390Asp)
|
rs863224248
|
0.00002
|
|
NM_001999.4(FBN2):c.1194C>T (p.Ile398=)
|
rs766004910
|
0.00002
|
|
NM_001999.4(FBN2):c.1253T>C (p.Met418Thr)
|
rs769840338
|
0.00002
|
|
NM_001999.4(FBN2):c.1685C>T (p.Ala562Val)
|
rs886059902
|
0.00002
|
|
NM_001999.4(FBN2):c.1734G>C (p.Glu578Asp)
|
rs371046485
|
0.00002
|
|
NM_001999.4(FBN2):c.1961G>A (p.Arg654His)
|
rs780589159
|
0.00002
|
|
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe)
|
rs760483684
|
0.00002
|
|
NM_001999.4(FBN2):c.2638G>A (p.Gly880Ser)
|
rs555682061
|
0.00002
|
|
NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp)
|
rs774248421
|
0.00002
|
|
NM_001999.4(FBN2):c.4489T>G (p.Phe1497Val)
|
rs150986564
|
0.00002
|
|
NM_001999.4(FBN2):c.7137T>G (p.Leu2379=)
|
rs765676702
|
0.00002
|
|
NM_002047.4(GARS1):c.1553A>G (p.Tyr518Cys)
|
rs753947676
|
0.00002
|
|
NM_002185.5(IL7R):c.111C>T (p.Asp37=)
|
rs763937095
|
0.00002
|
|
NM_002185.5(IL7R):c.990G>A (p.Gln330=)
|
rs201093124
|
0.00002
|
|
NM_002225.5(IVD):c.1138+13C>T
|
rs770658726
|
0.00002
|
|
NM_002225.5(IVD):c.357C>T (p.Ser119=)
|
rs776924775
|
0.00002
|
|
NM_002230.4(JUP):c.-4C>T
|
rs782493861
|
0.00002
|
|
NM_002230.4(JUP):c.1324A>T (p.Ile442Phe)
|
rs142213474
|
0.00002
|
|
NM_002230.4(JUP):c.1784C>T (p.Ser595Leu)
|
rs782130740
|
0.00002
|
|
NM_002230.4(JUP):c.682A>G (p.Ile228Val)
|
rs374566089
|
0.00002
|
|
NM_002246.3(KCNK3):c.618G>A (p.Val206=)
|
rs536179160
|
0.00002
|
|
NM_002292.4(LAMB2):c.3273T>C (p.Gly1091=)
|
rs369406683
|
0.00002
|
|
NM_002294.3(LAMP2):c.277G>A (p.Gly93Arg)
|
rs727504953
|
0.00002
|
|
NM_002294.3(LAMP2):c.778C>T (p.His260Tyr)
|
rs778577575
|
0.00002
|
|
NM_002294.3(LAMP2):c.797G>A (p.Arg266His)
|
rs200934351
|
0.00002
|
|
NM_002303.6(LEPR):c.1018A>G (p.Ile340Val)
|
rs753573139
|
0.00002
|
|
NM_002317.7(LOX):c.135G>T (p.Gln45His)
|
rs577482351
|
0.00002
|
|
NM_002351.5(SH2D1A):c.53A>G (p.Lys18Arg)
|
rs1303880423
|
0.00002
|
|
NM_002354.3(EPCAM):c.493G>A (p.Ala165Thr)
|
rs146685071
|
0.00002
|
|
NM_002382.5(MAX):c.329A>C (p.Gln110Pro)
|
rs775808138
|
0.00002
|
|
NM_002382.5(MAX):c.397G>A (p.Ala133Thr)
|
rs750459929
|
0.00002
|
|
NM_002397.5(MEF2C):c.489A>G (p.Ser163=)
|
rs781632867
|
0.00002
|
|
NM_002437.5(MPV17):c.217T>A (p.Leu73Met)
|
rs766487119
|
0.00002
|
|
NM_002439.5(MSH3):c.359-17C>G
|
rs761027175
|
0.00002
|
|
NM_002470.4(MYH3):c.5198C>A (p.Thr1733Lys)
|
rs539740208
|
0.00002
|
|
NM_002471.4(MYH6):c.2189T>C (p.Val730Ala)
|
rs763963623
|
0.00002
|
|
NM_002471.4(MYH6):c.2217T>C (p.Asp739=)
|
rs374177807
|
0.00002
|
|
NM_002471.4(MYH6):c.3468C>T (p.Gly1156=)
|
rs545420992
|
0.00002
|
|
NM_002473.6(MYH9):c.108C>T (p.Ser36=)
|
rs764743124
|
0.00002
|
|
NM_002473.6(MYH9):c.2713C>T (p.Arg905Cys)
|
rs377115843
|
0.00002
|
|
NM_002473.6(MYH9):c.318C>T (p.Tyr106=)
|
rs202117532
|
0.00002
|
|
NM_002473.6(MYH9):c.491-7G>A
|
rs200059134
|
0.00002
|
|
NM_002474.3(MYH11):c.1401+10G>A
|
rs375209947
|
0.00002
|
|
NM_002474.3(MYH11):c.1879G>A (p.Gly627Ser)
|
rs563865467
|
0.00002
|
|
NM_002474.3(MYH11):c.2010C>T (p.Asn670=)
|
rs774336703
|
0.00002
|
|
NM_002474.3(MYH11):c.415G>A (p.Val139Ile)
|
rs745609580
|
0.00002
|
|
NM_002474.3(MYH11):c.5772C>G (p.Leu1924=)
|
rs774511118
|
0.00002
|
|
NM_002474.3(MYH11):c.5823G>A (p.Arg1941=)
|
rs764375446
|
0.00002
|
|
NM_002485.5(NBN):c.104T>C (p.Ile35Thr)
|
rs587780773
|
0.00002
|
|
NM_002485.5(NBN):c.1125-3C>T
|
rs587781326
|
0.00002
|
|
NM_002485.5(NBN):c.120G>T (p.Ser40=)
|
rs774989816
|
0.00002
|
|
NM_002485.5(NBN):c.2029G>A (p.Asp677Asn)
|
rs730881856
|
0.00002
|
|
NM_002485.5(NBN):c.2070+4G>A
|
rs876660950
|
0.00002
|
|
NM_002485.5(NBN):c.24G>A (p.Ala8=)
|
rs779543740
|
0.00002
|
|
NM_002485.5(NBN):c.254A>G (p.Asn85Ser)
|
rs587780095
|
0.00002
|
|
NM_002485.5(NBN):c.949A>G (p.Met317Val)
|
rs587782502
|
0.00002
|
|
NM_002529.4(NTRK1):c.1237G>C (p.Glu413Gln)
|
rs199826686
|
0.00002
|
|
NM_002529.4(NTRK1):c.1805+8C>A
|
rs780424308
|
0.00002
|
|
NM_002529.4(NTRK1):c.1917G>A (p.Val639=)
|
rs760171782
|
0.00002
|
|
NM_002529.4(NTRK1):c.2047-8C>T
|
rs769308621
|
0.00002
|
|
NM_002529.4(NTRK1):c.2169C>T (p.Tyr723=)
|
rs140852621
|
0.00002
|
|
NM_002529.4(NTRK1):c.2205+10G>A
|
rs368713268
|
0.00002
|
|
NM_002529.4(NTRK1):c.65T>A (p.Leu22Gln)
|
rs748402400
|
0.00002
|
|
NM_002547.3(OPHN1):c.2132C>T (p.Pro711Leu)
|
rs1030545345
|
0.00002
|
|
NM_002637.4(PHKA1):c.2916C>T (p.Ser972=)
|
rs782102345
|
0.00002
|
|
NM_002691.4(POLD1):c.1055G>A (p.Arg352His)
|
rs556862476
|
0.00002
|
|
NM_002691.4(POLD1):c.1138-3C>T
|
rs200072694
|
0.00002
|
|
NM_002691.4(POLD1):c.1597G>A (p.Val533Met)
|
rs758602573
|
0.00002
|
|
NM_002691.4(POLD1):c.2250+5G>C
|
rs772130395
|
0.00002
|
|
NM_002691.4(POLD1):c.3219-4G>A
|
rs756232002
|
0.00002
|
|
NM_002691.4(POLD1):c.99A>G (p.Gln33=)
|
rs751090809
|
0.00002
|
|
NM_002693.3(POLG):c.1713-4G>A
|
rs201857960
|
0.00002
|
|
NM_002693.3(POLG):c.1929T>C (p.Ala643=)
|
rs745800212
|
0.00002
|
|
NM_002693.3(POLG):c.2019C>T (p.Ala673=)
|
rs557179508
|
0.00002
|
|
NM_002693.3(POLG):c.3273+8G>A
|
rs776468044
|
0.00002
|
|
NM_002693.3(POLG):c.33C>T (p.Gly11=)
|
rs1482684558
|
0.00002
|
|
NM_002693.3(POLG):c.3549C>T (p.Val1183=)
|
rs777231247
|
0.00002
|
|
NM_002693.3(POLG):c.3564C>T (p.Cys1188=)
|
rs146584956
|
0.00002
|
|
NM_002693.3(POLG):c.3630C>T (p.Tyr1210=)
|
rs139562274
|
0.00002
|
|
NM_002778.4(PSAP):c.10C>G (p.Leu4Val)
|
rs574280149
|
0.00002
|
|
NM_002778.4(PSAP):c.112A>T (p.Thr38Ser)
|
rs535525554
|
0.00002
|
|
NM_002778.4(PSAP):c.1197C>T (p.His399=)
|
rs748761213
|
0.00002
|
|
NM_002778.4(PSAP):c.40+12G>A
|
rs886047153
|
0.00002
|
|
NM_002834.5(PTPN11):c.1649C>T (p.Ala550Val)
|
rs767712281
|
0.00002
|
|
NM_002878.4(RAD51D):c.171G>A (p.Leu57=)
|
rs786202885
|
0.00002
|
|
NM_002878.4(RAD51D):c.346-4C>G
|
rs767328693
|
0.00002
|
|
NM_002878.4(RAD51D):c.738+3G>A
|
rs751062153
|
0.00002
|
|
NM_002878.4(RAD51D):c.739-5T>C
|
rs777400873
|
0.00002
|
|
NM_002880.4(RAF1):c.1113T>C (p.Asp371=)
|
rs146668293
|
0.00002
|
|
NM_002880.4(RAF1):c.639T>C (p.Thr213=)
|
rs397516823
|
0.00002
|
|
NM_002880.4(RAF1):c.934G>A (p.Val312Met)
|
rs555034652
|
0.00002
|
|
NM_002890.3(RASA1):c.260C>G (p.Thr87Arg)
|
rs553059467
|
0.00002
|
|
NM_002907.4(RECQL):c.700+4T>A
|
rs201357215
|
0.00002
|
|
NM_002972.4(SBF1):c.2871G>A (p.Pro957=)
|
rs757816344
|
0.00002
|
|
NM_003036.4(SKI):c.1211+17C>T
|
rs753878221
|
0.00002
|
|
NM_003036.4(SKI):c.1400C>T (p.Thr467Met)
|
rs752151031
|
0.00002
|
|
NM_003049.4(SLC10A1):c.936T>G (p.Thr312=)
|
rs201142538
|
0.00002
|
|
NM_003060.4(SLC22A5):c.1521G>C (p.Leu507Phe)
|
rs778716973
|
0.00002
|
|
NM_003060.4(SLC22A5):c.183C>G (p.Ala61=)
|
rs1226557478
|
0.00002
|
|
NM_003060.4(SLC22A5):c.522C>T (p.Phe174=)
|
rs145350949
|
0.00002
|
|
NM_003070.5(SMARCA2):c.4764T>A (p.Asp1588Glu)
|
rs372976069
|
0.00002
|
|
NM_003072.5(SMARCA4):c.1024A>G (p.Met342Val)
|
rs878854196
|
0.00002
|
|
NM_003072.5(SMARCA4):c.3324C>A (p.Leu1108=)
|
rs750792793
|
0.00002
|
|
NM_003072.5(SMARCA4):c.3873+6del
|
rs751936459
|
0.00002
|
|
NM_003072.5(SMARCA4):c.4513G>A (p.Val1505Met)
|
rs372893370
|
0.00002
|
|
NM_003072.5(SMARCA4):c.720G>A (p.Pro240=)
|
rs1023059961
|
0.00002
|
|
NM_003072.5(SMARCA4):c.859+5G>A
|
rs367781236
|
0.00002
|
|
NM_003072.5(SMARCA4):c.887C>T (p.Thr296Met)
|
rs781066262
|
0.00002
|
|
NM_003098.3(SNTA1):c.620G>A (p.Arg207Gln)
|
rs771180054
|
0.00002
|
|
NM_003098.3(SNTA1):c.702-7C>G
|
rs780688953
|
0.00002
|
|
NM_003119.4(SPG7):c.1599G>A (p.Ala533=)
|
rs561746823
|
0.00002
|
|
NM_003119.4(SPG7):c.619-7C>A
|
rs779835775
|
0.00002
|
|
NM_003126.4(SPTA1):c.1124T>C (p.Phe375Ser)
|
rs929328527
|
0.00002
|
|
NM_003126.4(SPTA1):c.209T>G (p.Met70Arg)
|
rs1469938477
|
0.00002
|
|
NM_003193.5(TBCE):c.678G>A (p.Ala226=)
|
rs757127216
|
0.00002
|
|
NM_003200.5(TCF3):c.1450+6C>A
|
rs1471157814
|
0.00002
|
|
NM_003238.6(TGFB2):c.1087-13T>G
|
rs374394434
|
0.00002
|
|
NM_003239.5(TGFB3):c.324C>T (p.Phe108=)
|
rs779502039
|
0.00002
|
|
NM_003242.6(TGFBR2):c.1042C>T (p.Arg348Cys)
|
rs144701411
|
0.00002
|
|
NM_003283.6(TNNT1):c.73+15T>G
|
rs759885491
|
0.00002
|
|
NM_003331.5(TYK2):c.3201-15C>T
|
rs766488790
|
0.00002
|
|
NM_003331.5(TYK2):c.3555C>T (p.Ser1185=)
|
rs372903125
|
0.00002
|
|
NM_003334.4(UBA1):c.954G>A (p.Thr318=)
|
rs368506746
|
0.00002
|
|
NM_003361.4(UMOD):c.758G>A (p.Gly253Asp)
|
rs760253448
|
0.00002
|
|
NM_003482.4(KMT2D):c.11641A>G (p.Met3881Val)
|
rs797045657
|
0.00002
|
|
NM_003482.4(KMT2D):c.6204G>A (p.Arg2068=)
|
rs532098737
|
0.00002
|
|
NM_003500.4(ACOX2):c.704-3A>C
|
rs770975088
|
0.00002
|
|
NM_003560.4(PLA2G6):c.1348+10G>A
|
rs761202760
|
0.00002
|
|
NM_003680.4(YARS1):c.684+3A>G
|
rs375332060
|
0.00002
|
|
NM_003705.5(SLC25A12):c.1745-4T>C
|
rs765417421
|
0.00002
|
|
NM_003721.4(RFXANK):c.240C>T (p.Asn80=)
|
rs754519730
|
0.00002
|
|
NM_003722.5(TP63):c.1761G>A (p.Leu587=)
|
rs573105911
|
0.00002
|
|
NM_003742.4(ABCB11):c.2453A>T (p.Tyr818Phe)
|
rs374548469
|
0.00002
|
|
NM_003742.4(ABCB11):c.2799G>T (p.Leu933=)
|
rs1057164807
|
0.00002
|
|
NM_003742.4(ABCB11):c.283G>A (p.Val95Ile)
|
rs201735739
|
0.00002
|
|
NM_003764.4(STX11):c.585C>A (p.Ala195=)
|
rs147525157
|
0.00002
|
|
NM_003809.3(TNFSF12):c.674G>A (p.Arg225Gln)
|
rs576689580
|
0.00002
|
|
NM_003896.4(ST3GAL5):c.1059C>T (p.Cys353=)
|
rs149801673
|
0.00002
|
|
NM_003896.4(ST3GAL5):c.852A>G (p.Pro284=)
|
rs534535305
|
0.00002
|
|
NM_003919.3(SGCE):c.139G>A (p.Asp47Asn)
|
rs199787155
|
0.00002
|
|
NM_003977.4(AIP):c.822C>A (p.Ala274=)
|
rs145142121
|
0.00002
|
|
NM_003982.4(SLC7A7):c.342C>T (p.Phe114=)
|
rs777682875
|
0.00002
|
|
NM_004004.6(GJB2):c.510C>T (p.Asn170=)
|
rs763068053
|
0.00002
|
|
NM_004006.3(DMD):c.10677T>C (p.Ile3559=)
|
rs765950547
|
0.00002
|
|
NM_004006.3(DMD):c.10889G>A (p.Arg3630Gln)
|
rs1057522606
|
0.00002
|
|
NM_004006.3(DMD):c.1573G>A (p.Ala525Thr)
|
rs754158494
|
0.00002
|
|
NM_004006.3(DMD):c.159C>A (p.Leu53=)
|
rs762245872
|
0.00002
|
|
NM_004006.3(DMD):c.2210G>A (p.Arg737His)
|
rs773358704
|
0.00002
|
|
NM_004006.3(DMD):c.2828G>A (p.Arg943His)
|
rs398123911
|
0.00002
|
|
NM_004006.3(DMD):c.2967G>T (p.Leu989=)
|
rs760097427
|
0.00002
|
|
NM_004006.3(DMD):c.3327T>C (p.Asn1109=)
|
rs775591219
|
0.00002
|
|
NM_004006.3(DMD):c.3663A>G (p.Val1221=)
|
rs750549006
|
0.00002
|
|
NM_004006.3(DMD):c.4345-8C>T
|
rs886044675
|
0.00002
|
|
NM_004006.3(DMD):c.4851T>G (p.Thr1617=)
|
rs143719666
|
0.00002
|
|
NM_004006.3(DMD):c.5144A>G (p.Asp1715Gly)
|
rs151109270
|
0.00002
|
|
NM_004006.3(DMD):c.5459A>G (p.Asn1820Ser)
|
rs1800271
|
0.00002
|
|
NM_004006.3(DMD):c.5827A>G (p.Met1943Val)
|
rs181849614
|
0.00002
|
|
NM_004006.3(DMD):c.7602C>T (p.Ala2534=)
|
rs748309027
|
0.00002
|
|
NM_004006.3(DMD):c.8147A>G (p.Gln2716Arg)
|
rs750640802
|
0.00002
|
|
NM_004006.3(DMD):c.8226A>G (p.Gln2742=)
|
rs746514008
|
0.00002
|
|
NM_004006.3(DMD):c.842G>C (p.Ser281Thr)
|
rs762274027
|
0.00002
|
|
NM_004035.7(ACOX1):c.510G>A (p.Val170=)
|
rs752375436
|
0.00002
|
|
NM_004082.5(DCTN1):c.3699+16G>A
|
rs747490958
|
0.00002
|
|
NM_004085.4(TIMM8A):c.199G>A (p.Val67Ile)
|
rs1054895
|
0.00002
|
|
NM_004100.5(EYA4):c.1107+10C>G
|
rs752586864
|
0.00002
|
|
NM_004168.4(SDHA):c.1799G>A (p.Arg600Gln)
|
rs1126568
|
0.00002
|
|
NM_004181.5(UCHL1):c.412-4G>A
|
rs765745344
|
0.00002
|
|
NM_004187.5(KDM5C):c.2375A>C (p.Glu792Ala)
|
rs782426227
|
0.00002
|
|
NM_004208.4(AIFM1):c.8G>A (p.Arg3Gln)
|
rs769299264
|
0.00002
|
|
NM_004239.4(TRIP11):c.477C>T (p.Asp159=)
|
rs147932068
|
0.00002
|
|
NM_004239.4(TRIP11):c.657+9A>C
|
rs182914589
|
0.00002
|
|
NM_004247.4(EFTUD2):c.628A>C (p.Asn210His)
|
rs751674101
|
0.00002
|
|
NM_004260.4(RECQL4):c.969C>T (p.Ser323=)
|
rs745658597
|
0.00002
|
|
NM_004281.4(BAG3):c.386C>T (p.Ala129Val)
|
rs876657747
|
0.00002
|
|
NM_004304.5(ALK):c.1376A>G (p.Gln459Arg)
|
rs773380015
|
0.00002
|
|
NM_004304.5(ALK):c.1447G>C (p.Glu483Gln)
|
rs1453170969
|
0.00002
|
|
NM_004304.5(ALK):c.2239G>A (p.Gly747Arg)
|
rs762395127
|
0.00002
|
|
NM_004304.5(ALK):c.2979C>T (p.Asp993=)
|
rs761999849
|
0.00002
|
|
NM_004304.5(ALK):c.3939-9C>T
|
rs749848775
|
0.00002
|
|
NM_004304.5(ALK):c.819G>T (p.Glu273Asp)
|
rs758537157
|
0.00002
|
|
NM_004320.6(ATP2A1):c.1314C>T (p.Gly438=)
|
rs757274362
|
0.00002
|
|
NM_004320.6(ATP2A1):c.2082C>T (p.Tyr694=)
|
rs749931257
|
0.00002
|
|
NM_004329.3(BMPR1A):c.-8A>G
|
rs546681014
|
0.00002
|
|
NM_004329.3(BMPR1A):c.1300G>A (p.Gly434Ser)
|
rs587780108
|
0.00002
|
|
NM_004329.3(BMPR1A):c.27A>G (p.Arg9=)
|
rs751420248
|
0.00002
|
|
NM_004329.3(BMPR1A):c.560G>A (p.Arg187His)
|
rs189059377
|
0.00002
|
|
NM_004329.3(BMPR1A):c.587A>G (p.Asp196Gly)
|
rs141608069
|
0.00002
|
|
NM_004329.3(BMPR1A):c.731G>A (p.Arg244Gln)
|
rs147971049
|
0.00002
|
|
NM_004333.6(BRAF):c.*7T>C
|
rs727502903
|
0.00002
|
|
NM_004333.6(BRAF):c.138+17C>G
|
rs756400234
|
0.00002
|
|
NM_004341.5(CAD):c.1547G>A (p.Arg516Gln)
|
rs772639350
|
0.00002
|
|
NM_004360.5(CDH1):c.1004G>A (p.Arg335Gln)
|
rs373364873
|
0.00002
|
|
NM_004360.5(CDH1):c.1118C>T (p.Pro373Leu)
|
rs587782359
|
0.00002
|
|
NM_004360.5(CDH1):c.1119G>A (p.Pro373=)
|
rs758258272
|
0.00002
|
|
NM_004360.5(CDH1):c.1178T>A (p.Ile393Asn)
|
rs34466743
|
0.00002
|
|
NM_004360.5(CDH1):c.1273G>A (p.Val425Ile)
|
rs570930882
|
0.00002
|
|
NM_004360.5(CDH1):c.1423G>A (p.Val475Met)
|
rs587782113
|
0.00002
|
|
NM_004360.5(CDH1):c.1488C>T (p.Ser496=)
|
rs751346548
|
0.00002
|
|
NM_004360.5(CDH1):c.1610C>T (p.Pro537Leu)
|
rs730881667
|
0.00002
|
|
NM_004360.5(CDH1):c.1684A>G (p.Thr562Ala)
|
rs587782061
|
0.00002
|
|
NM_004360.5(CDH1):c.1697T>C (p.Ile566Thr)
|
rs763292288
|
0.00002
|
|
NM_004360.5(CDH1):c.188G>A (p.Arg63Gln)
|
rs587780117
|
0.00002
|
|
NM_004360.5(CDH1):c.1930G>A (p.Asp644Asn)
|
rs587781696
|
0.00002
|
|
NM_004360.5(CDH1):c.2079C>T (p.Gly693=)
|
rs771993728
|
0.00002
|
|
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val)
|
rs121964871
|
0.00002
|
|
NM_004360.5(CDH1):c.2254G>A (p.Val752Ile)
|
rs587781351
|
0.00002
|
|
NM_004360.5(CDH1):c.2296-14T>C
|
rs755950355
|
0.00002
|
|
NM_004360.5(CDH1):c.2359G>A (p.Val787Ile)
|
rs766270336
|
0.00002
|
|
NM_004360.5(CDH1):c.2371C>T (p.Leu791Phe)
|
rs786202598
|
0.00002
|
|
NM_004360.5(CDH1):c.2399G>A (p.Arg800His)
|
rs370345996
|
0.00002
|
|
NM_004360.5(CDH1):c.269G>A (p.Arg90Gln)
|
rs587782647
|
0.00002
|
|
NM_004360.5(CDH1):c.344C>T (p.Thr115Met)
|
rs370973869
|
0.00002
|
|
NM_004360.5(CDH1):c.388-14T>G
|
rs769151434
|
0.00002
|
|
NM_004360.5(CDH1):c.388-4T>C
|
rs750722169
|
0.00002
|
|
NM_004360.5(CDH1):c.388-8C>T
|
rs774601444
|
0.00002
|
|
NM_004360.5(CDH1):c.4G>A (p.Gly2Ser)
|
rs786201212
|
0.00002
|
|
NM_004360.5(CDH1):c.531+3A>G
|
rs766563354
|
0.00002
|
|
NM_004360.5(CDH1):c.866C>T (p.Ala289Val)
|
rs780399325
|
0.00002
|
|
NM_004360.5(CDH1):c.957T>A (p.Ile319=)
|
rs549252135
|
0.00002
|
|
NM_004369.4(COL6A3):c.1092C>T (p.Tyr364=)
|
rs548519047
|
0.00002
|
|
NM_004369.4(COL6A3):c.1293G>A (p.Pro431=)
|
rs376912950
|
0.00002
|
|
NM_004369.4(COL6A3):c.1530C>T (p.Thr510=)
|
rs373281009
|
0.00002
|
|
NM_004369.4(COL6A3):c.2196G>A (p.Thr732=)
|
rs768242367
|
0.00002
|
|
NM_004369.4(COL6A3):c.2343G>A (p.Ala781=)
|
rs561804945
|
0.00002
|
|
NM_004369.4(COL6A3):c.3699C>T (p.Asp1233=)
|
rs542411896
|
0.00002
|
|
NM_004369.4(COL6A3):c.8891C>T (p.Ala2964Val)
|
rs563813743
|
0.00002
|
|
NM_004370.6(COL12A1):c.19C>G (p.Pro7Ala)
|
rs755046298
|
0.00002
|
|
NM_004370.6(COL12A1):c.2473C>G (p.Pro825Ala)
|
rs770324764
|
0.00002
|
|
NM_004370.6(COL12A1):c.2633A>G (p.Gln878Arg)
|
rs761818931
|
0.00002
|
|
NM_004370.6(COL12A1):c.2653G>A (p.Ala885Thr)
|
rs373583477
|
0.00002
|
|
NM_004370.6(COL12A1):c.2957C>G (p.Pro986Arg)
|
rs752812483
|
0.00002
|
|
NM_004370.6(COL12A1):c.3857G>A (p.Arg1286His)
|
rs191757914
|
0.00002
|
|
NM_004370.6(COL12A1):c.4280G>A (p.Arg1427His)
|
rs1033545876
|
0.00002
|
|
NM_004370.6(COL12A1):c.43G>T (p.Ala15Ser)
|
rs1453508139
|
0.00002
|
|
NM_004370.6(COL12A1):c.4402G>A (p.Gly1468Arg)
|
rs771110521
|
0.00002
|
|
NM_004370.6(COL12A1):c.5896G>A (p.Val1966Ile)
|
rs1244436929
|
0.00002
|
|
NM_004370.6(COL12A1):c.6919C>T (p.Pro2307Ser)
|
rs758186176
|
0.00002
|
|
NM_004380.3(CREBBP):c.4073T>C (p.Phe1358Ser)
|
rs762638591
|
0.00002
|
|
NM_004380.3(CREBBP):c.4419C>T (p.Ala1473=)
|
rs370689343
|
0.00002
|
|
NM_004387.4(NKX2-5):c.943G>T (p.Val315Leu)
|
rs201249977
|
0.00002
|
|
NM_004415.4(DSP):c.1040T>C (p.Ile347Thr)
|
rs757208743
|
0.00002
|
|
NM_004415.4(DSP):c.104G>C (p.Gly35Ala)
|
rs202194206
|
0.00002
|
|
NM_004415.4(DSP):c.1149A>G (p.Glu383=)
|
rs572980966
|
0.00002
|
|
NM_004415.4(DSP):c.1493C>T (p.Pro498Leu)
|
rs761051181
|
0.00002
|
|
NM_004415.4(DSP):c.1816C>T (p.Arg606Trp)
|
rs372467697
|
0.00002
|
|
NM_004415.4(DSP):c.1903+4G>A
|
rs757726608
|
0.00002
|
|
NM_004415.4(DSP):c.2329A>G (p.Ile777Val)
|
rs755860619
|
0.00002
|
|
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys)
|
rs749051278
|
0.00002
|
|
NM_004415.4(DSP):c.3147G>A (p.Ser1049=)
|
rs756341143
|
0.00002
|
|
NM_004415.4(DSP):c.3282G>A (p.Lys1094=)
|
rs2491080
|
0.00002
|
|
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=)
|
rs372440854
|
0.00002
|
|
NM_004415.4(DSP):c.3877A>G (p.Ile1293Val)
|
rs376555665
|
0.00002
|
|
NM_004415.4(DSP):c.4233G>C (p.Arg1411Ser)
|
rs771721410
|
0.00002
|
|
NM_004415.4(DSP):c.4478A>C (p.Glu1493Ala)
|
rs760433367
|
0.00002
|
|
NM_004415.4(DSP):c.449G>A (p.Arg150Gln)
|
rs587782940
|
0.00002
|
|
NM_004415.4(DSP):c.4867T>C (p.Ser1623Pro)
|
rs749679496
|
0.00002
|
|
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile)
|
rs34738426
|
0.00002
|
|
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser)
|
rs372393122
|
0.00002
|
|
NM_004415.4(DSP):c.6655G>A (p.Val2219Ile)
|
rs397516953
|
0.00002
|
|
NM_004415.4(DSP):c.7575C>T (p.Gly2525=)
|
rs780156504
|
0.00002
|
|
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys)
|
rs142078450
|
0.00002
|
|
NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro)
|
rs147484870
|
0.00002
|
|
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile)
|
rs869025397
|
0.00002
|
|
NM_004415.4(DSP):c.8374T>A (p.Ser2792Thr)
|
rs727504570
|
0.00002
|
|
NM_004415.4(DSP):c.8536C>G (p.Arg2846Gly)
|
rs397516972
|
0.00002
|
|
NM_004444.5(EPHB4):c.2704C>T (p.Arg902Trp)
|
rs200953030
|
0.00002
|
|
NM_004444.5(EPHB4):c.2767A>G (p.Arg923Gly)
|
rs753634998
|
0.00002
|
|
NM_004463.3(FGD1):c.771C>T (p.Pro257=)
|
rs757589705
|
0.00002
|
|
NM_004484.4(GPC3):c.1114G>A (p.Val372Ile)
|
rs140756498
|
0.00002
|
|
NM_004484.4(GPC3):c.733C>A (p.His245Asn)
|
rs199778216
|
0.00002
|
|
NM_004519.4(KCNQ3):c.1403A>G (p.Asn468Ser)
|
rs118192252
|
0.00002
|
|
NM_004525.3(LRP2):c.3573A>G (p.Gln1191=)
|
rs750430784
|
0.00002
|
|
NM_004525.3(LRP2):c.39C>T (p.Leu13=)
|
rs529649802
|
0.00002
|
|
NM_004530.6(MMP2):c.105C>T (p.Ile35=)
|
rs764055331
|
0.00002
|
|
NM_004531.5(MOCS2):c.74A>G (p.Glu25Gly)
|
rs749876758
|
0.00002
|
|
NM_004560.4(ROR2):c.1236C>T (p.Ile412=)
|
rs752218712
|
0.00002
|
|
NM_004565.3(PEX14):c.-7C>T
|
rs774075581
|
0.00002
|
|
NM_004565.3(PEX14):c.170-4C>A
|
rs764907398
|
0.00002
|
|
NM_004565.3(PEX14):c.824C>T (p.Ser275Leu)
|
rs727504081
|
0.00002
|
|
NM_004612.4(TGFBR1):c.199C>T (p.His67Tyr)
|
rs766157497
|
0.00002
|
|
NM_004612.4(TGFBR1):c.343+3A>G
|
rs374717754
|
0.00002
|
|
NM_004612.4(TGFBR1):c.503G>A (p.Arg168His)
|
rs777965779
|
0.00002
|
|
NM_004629.2(FANCG):c.176-10G>A
|
rs376273679
|
0.00002
|
|
NM_004646.4(NPHS1):c.2523G>A (p.Glu841=)
|
rs1215088730
|
0.00002
|
|
NM_004655.4(AXIN2):c.135C>T (p.Val45=)
|
rs376726966
|
0.00002
|
|
NM_004655.4(AXIN2):c.1976G>A (p.Arg659Gln)
|
rs730881400
|
0.00002
|
|
NM_004655.4(AXIN2):c.897C>T (p.Asp299=)
|
rs748143308
|
0.00002
|
|
NM_004656.4(BAP1):c.1251-11G>A
|
rs981419588
|
0.00002
|
|
NM_004656.4(BAP1):c.1441C>A (p.His481Asn)
|
rs764816701
|
0.00002
|
|
NM_004656.4(BAP1):c.1552C>T (p.Arg518Trp)
|
rs775789477
|
0.00002
|
|
NM_004656.4(BAP1):c.1843A>G (p.Met615Val)
|
rs1183229867
|
0.00002
|
|
NM_004656.4(BAP1):c.340C>T (p.Arg114Cys)
|
rs761048859
|
0.00002
|
|
NM_004656.4(BAP1):c.526A>G (p.Ile176Val)
|
rs1040041070
|
0.00002
|
|
NM_004656.4(BAP1):c.757C>A (p.Gln253Lys)
|
rs776240891
|
0.00002
|
|
NM_004656.4(BAP1):c.797C>T (p.Thr266Ile)
|
rs769338697
|
0.00002
|
|
NM_004656.4(BAP1):c.995C>T (p.Pro332Leu)
|
rs772070350
|
0.00002
|
|
NM_004722.4(AP4M1):c.953G>A (p.Arg318Gln)
|
rs531148057
|
0.00002
|
|
NM_004813.4(PEX16):c.885C>T (p.Ser295=)
|
rs200415017
|
0.00002
|
|
NM_004817.4(TJP2):c.2775G>A (p.Thr925=)
|
rs374453976
|
0.00002
|
|
NM_004817.4(TJP2):c.2832G>A (p.Pro944=)
|
rs191634088
|
0.00002
|
|
NM_004817.4(TJP2):c.972G>T (p.Gly324=)
|
rs372333417
|
0.00002
|
|
NM_004820.5(CYP7B1):c.129C>T (p.Pro43=)
|
rs1471365409
|
0.00002
|
|
NM_004870.4(MPDU1):c.121C>G (p.Leu41Val)
|
rs199498675
|
0.00002
|
|
NM_004958.4(MTOR):c.4612C>T (p.Arg1538Trp)
|
rs202187935
|
0.00002
|
|
NM_004975.4(KCNB1):c.2009G>A (p.Arg670Gln)
|
rs753575587
|
0.00002
|
|
NM_004984.4(KIF5A):c.1076C>T (p.Thr359Met)
|
rs774586838
|
0.00002
|
|
NM_004984.4(KIF5A):c.1222C>T (p.Arg408Cys)
|
rs767181570
|
0.00002
|
|
NM_004984.4(KIF5A):c.1870C>T (p.Arg624Trp)
|
rs748248329
|
0.00002
|
|
NM_004984.4(KIF5A):c.2134C>T (p.Arg712Trp)
|
rs779614400
|
0.00002
|
|
NM_004984.4(KIF5A):c.2263G>A (p.Glu755Lys)
|
rs387907286
|
0.00002
|
|
NM_004984.4(KIF5A):c.2881G>A (p.Ala961Thr)
|
rs746095110
|
0.00002
|
|
NM_004984.4(KIF5A):c.2990A>T (p.Asn997Ile)
|
rs146202502
|
0.00002
|
|
NM_004984.4(KIF5A):c.927T>C (p.Tyr309=)
|
rs755457098
|
0.00002
|
|
NM_004991.4(MECOM):c.3446A>G (p.His1149Arg)
|
rs779967808
|
0.00002
|
|
NM_005002.5(NDUFA9):c.728T>C (p.Val243Ala)
|
rs202214518
|
0.00002
|
|
NM_005006.7(NDUFS1):c.502T>C (p.Leu168=)
|
rs759656684
|
0.00002
|
|
NM_005045.4(RELN):c.10025C>T (p.Thr3342Met)
|
rs201703640
|
0.00002
|
|
NM_005045.4(RELN):c.1555G>T (p.Val519Phe)
|
rs560704715
|
0.00002
|
|
NM_005045.4(RELN):c.1936C>T (p.Arg646Trp)
|
rs115831287
|
0.00002
|
|
NM_005045.4(RELN):c.3287A>G (p.Gln1096Arg)
|
rs780325204
|
0.00002
|
|
NM_005045.4(RELN):c.3952C>G (p.Pro1318Ala)
|
rs140090640
|
0.00002
|
|
NM_005045.4(RELN):c.6106G>A (p.Ala2036Thr)
|
rs371614773
|
0.00002
|
|
NM_005045.4(RELN):c.7916G>A (p.Arg2639His)
|
rs369735904
|
0.00002
|
|
NM_005045.4(RELN):c.8181T>G (p.Asp2727Glu)
|
rs778861276
|
0.00002
|
|
NM_005076.5(CNTN2):c.2111G>A (p.Arg704Gln)
|
rs139732381
|
0.00002
|
|
NM_005120.3(MED12):c.3785G>A (p.Arg1262Lys)
|
rs202120461
|
0.00002
|
|
NM_005159.5(ACTC1):c.-36C>G
|
rs886051091
|
0.00002
|
|
NM_005198.5(CHKB):c.745T>C (p.Leu249=)
|
rs760310819
|
0.00002
|
|
NM_005249.5(FOXG1):c.326C>T (p.Pro109Leu)
|
rs398124203
|
0.00002
|
|
NM_005271.5(GLUD1):c.330G>A (p.Lys110=)
|
rs199752396
|
0.00002
|
|
NM_005359.6(SMAD4):c.1106A>G (p.Asn369Ser)
|
rs139569694
|
0.00002
|
|
NM_005359.6(SMAD4):c.132A>G (p.Val44=)
|
rs965942065
|
0.00002
|
|
NM_005359.6(SMAD4):c.471G>A (p.Met157Ile)
|
rs780716382
|
0.00002
|
|
NM_005379.4(MYO1A):c.2141G>A (p.Arg714His)
|
rs369452147
|
0.00002
|
|
NM_005422.4(TECTA):c.487-7C>G
|
rs368627411
|
0.00002
|
|
NM_005431.2(XRCC2):c.596T>C (p.Met199Thr)
|
rs149099078
|
0.00002
|
|
NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala)
|
rs200856070
|
0.00002
|
|
NM_005477.3(HCN4):c.2370T>C (p.Ser790=)
|
rs747648596
|
0.00002
|
|
NM_005502.4(ABCA1):c.4050+8G>A
|
rs371581830
|
0.00002
|
|
NM_005518.4(HMGCS2):c.1236T>C (p.Tyr412=)
|
rs773364048
|
0.00002
|
|
NM_005529.7(HSPG2):c.6228G>A (p.Gly2076=)
|
rs769398456
|
0.00002
|
|
NM_005535.3(IL12RB1):c.1173G>A (p.Pro391=)
|
rs772239442
|
0.00002
|
|
NM_005535.3(IL12RB1):c.1746C>T (p.Pro582=)
|
rs759839534
|
0.00002
|
|
NM_005535.3(IL12RB1):c.1818C>T (p.Asp606=)
|
rs886054300
|
0.00002
|
|
NM_005535.3(IL12RB1):c.561A>T (p.Gly187=)
|
rs200542111
|
0.00002
|
|
NM_005548.3(KARS1):c.1695+4C>T
|
rs747781002
|
0.00002
|
|
NM_005559.4(LAMA1):c.8314C>T (p.Arg2772Cys)
|
rs760542877
|
0.00002
|
|
NM_005559.4(LAMA1):c.8315G>A (p.Arg2772His)
|
rs548903685
|
0.00002
|
|
NM_005566.4(LDHA):c.249T>C (p.Tyr83=)
|
rs199653952
|
0.00002
|
|
NM_005591.4(MRE11):c.1233G>A (p.Glu411=)
|
rs748756180
|
0.00002
|
|
NM_005591.4(MRE11):c.1404T>C (p.Asp468=)
|
rs368144567
|
0.00002
|
|
NM_005591.4(MRE11):c.1758G>A (p.Ser586=)
|
rs766372720
|
0.00002
|
|
NM_005592.4(MUSK):c.481C>T (p.Leu161Phe)
|
rs1311636142
|
0.00002
|
|
NM_005609.4(PYGM):c.1239+8C>T
|
rs886048461
|
0.00002
|
|
NM_005609.4(PYGM):c.1881C>T (p.Ile627=)
|
rs369361532
|
0.00002
|
|
NM_005609.4(PYGM):c.346-9C>T
|
rs368998655
|
0.00002
|
|
NM_005618.4(DLL1):c.1462G>A (p.Ala488Thr)
|
rs768701175
|
0.00002
|
|
NM_005629.4(SLC6A8):c.76G>A (p.Gly26Arg)
|
rs1233444890
|
0.00002
|
|
NM_005633.4(SOS1):c.1202+5A>G
|
rs1021449471
|
0.00002
|
|
NM_005633.4(SOS1):c.1772A>G (p.Asn591Ser)
|
rs757213444
|
0.00002
|
|
NM_005633.4(SOS1):c.2996A>G (p.Asn999Ser)
|
rs765070830
|
0.00002
|
|
NM_005633.4(SOS1):c.3329C>T (p.Ser1110Leu)
|
rs572955351
|
0.00002
|
|
NM_005633.4(SOS1):c.3836C>T (p.Thr1279Ile)
|
rs758258471
|
0.00002
|
|
NM_005633.4(SOS1):c.3838C>A (p.Gln1280Lys)
|
rs548519280
|
0.00002
|
|
NM_005633.4(SOS1):c.39A>G (p.Glu13=)
|
rs763337946
|
0.00002
|
|
NM_005660.3(SLC35A2):c.485G>A (p.Arg162His)
|
rs782305321
|
0.00002
|
|
NM_005670.4(EPM2A):c.620G>A (p.Arg207His)
|
rs571938170
|
0.00002
|
|
NM_005677.4(COLQ):c.942G>A (p.Pro314=)
|
rs771944316
|
0.00002
|
|
NM_005732.4(RAD50):c.1216G>A (p.Gly406Arg)
|
rs747951988
|
0.00002
|
|
NM_005732.4(RAD50):c.282A>G (p.Ile94Met)
|
rs786202847
|
0.00002
|
|
NM_005751.5(AKAP9):c.6046C>T (p.Arg2016Cys)
|
rs376950905
|
0.00002
|
|
NM_005787.6(ALG3):c.606-10C>T
|
rs372141050
|
0.00002
|
|
NM_005857.5(ZMPSTE24):c.750G>A (p.Thr250=)
|
rs750229142
|
0.00002
|
|
NM_005859.5(PURA):c.127A>G (p.Ser43Gly)
|
rs1335796595
|
0.00002
|
|
NM_005888.4(SLC25A3):c.279G>T (p.Met93Ile)
|
rs750003586
|
0.00002
|
|
NM_005902.4(SMAD3):c.665A>G (p.Gln222Arg)
|
rs755924969
|
0.00002
|
|
NM_005902.4(SMAD3):c.730G>A (p.Val244Ile)
|
rs773543026
|
0.00002
|
|
NM_005908.4(MANBA):c.1317+14C>A
|
rs200935345
|
0.00002
|
|
NM_006005.3(WFS1):c.1290G>A (p.Ser430=)
|
rs752100338
|
0.00002
|
|
NM_006005.3(WFS1):c.2157C>T (p.Ala719=)
|
rs766900991
|
0.00002
|
|
NM_006005.3(WFS1):c.2453G>A (p.Arg818His)
|
rs575851859
|
0.00002
|
|
NM_006005.3(WFS1):c.345C>T (p.Gly115=)
|
rs200385504
|
0.00002
|
|
NM_006012.4(CLPP):c.15A>G (p.Ile5Met)
|
rs763687804
|
0.00002
|
|
NM_006019.4(TCIRG1):c.1710G>A (p.Thr570=)
|
rs199696448
|
0.00002
|
|
NM_006031.6(PCNT):c.4108C>T (p.Arg1370Trp)
|
rs751846963
|
0.00002
|
|
NM_006031.6(PCNT):c.4929G>C (p.Val1643=)
|
rs569351854
|
0.00002
|
|
NM_006031.6(PCNT):c.6991G>A (p.Gly2331Arg)
|
rs775387368
|
0.00002
|
|
NM_006031.6(PCNT):c.7045G>C (p.Ala2349Pro)
|
rs772025323
|
0.00002
|
|
NM_006031.6(PCNT):c.7632G>A (p.Thr2544=)
|
rs541260181
|
0.00002
|
|
NM_006059.4(LAMC3):c.1130G>A (p.Arg377Gln)
|
rs375139277
|
0.00002
|
|
NM_006073.4(TRDN):c.1220-3C>T
|
rs773907258
|
0.00002
|
|
NM_006086.4(TUBB3):c.813C>T (p.Ala271=)
|
rs776465410
|
0.00002
|
|
NM_006087.4(TUBB4A):c.666C>T (p.Tyr222=)
|
rs146906606
|
0.00002
|
|
NM_006096.4(NDRG1):c.141G>A (p.Thr47=)
|
rs750933446
|
0.00002
|
|
NM_006158.5(NEFL):c.279G>A (p.Gln93=)
|
rs60737254
|
0.00002
|
|
NM_006206.6(PDGFRA):c.2811G>A (p.Pro937=)
|
rs190260215
|
0.00002
|
|
NM_006231.4(POLE):c.2792T>C (p.Phe931Ser)
|
rs376546593
|
0.00002
|
|
NM_006231.4(POLE):c.3698G>A (p.Arg1233Gln)
|
rs201738371
|
0.00002
|
|
NM_006231.4(POLE):c.3913G>A (p.Gly1305Arg)
|
rs563990655
|
0.00002
|
|
NM_006231.4(POLE):c.4006-8C>A
|
rs745486661
|
0.00002
|
|
NM_006231.4(POLE):c.5382C>G (p.Ile1794Met)
|
rs368364666
|
0.00002
|
|
NM_006231.4(POLE):c.910-5G>A
|
rs750101293
|
0.00002
|
|
NM_006245.4(PPP2R5D):c.1322G>A (p.Arg441Gln)
|
rs748607156
|
0.00002
|
|
NM_006254.4(PRKCD):c.889-9C>T
|
rs782612523
|
0.00002
|
|
NM_006258.4(PRKG1):c.777T>C (p.Asn259=)
|
rs774710312
|
0.00002
|
|
NM_006261.5(PROP1):c.52G>A (p.Gly18Ser)
|
rs775353413
|
0.00002
|
|
NM_006279.5(ST3GAL3):c.990C>T (p.Asn330=)
|
rs773763812
|
0.00002
|
|
NM_006329.4(FBLN5):c.1228A>G (p.Ile410Val)
|
rs1057522892
|
0.00002
|
|
NM_006329.4(FBLN5):c.990-3C>T
|
rs762189469
|
0.00002
|
|
NM_006343.3(MERTK):c.1340G>A (p.Arg447Gln)
|
rs753693755
|
0.00002
|
|
NM_006363.6(SEC23B):c.1512-10G>T
|
rs770601333
|
0.00002
|
|
NM_006371.5(CRTAP):c.1068+11T>C
|
rs761750861
|
0.00002
|
|
NM_006371.5(CRTAP):c.282C>T (p.Pro94=)
|
rs540998437
|
0.00002
|
|
NM_006393.3(NEBL):c.1963-13C>T
|
rs727504904
|
0.00002
|
|
NM_006415.4(SPTLC1):c.165+4C>T
|
rs750680286
|
0.00002
|
|
NM_006420.3(ARFGEF2):c.3843C>T (p.Ala1281=)
|
rs748858379
|
0.00002
|
|
NM_006440.5(TXNRD2):c.1152C>T (p.Gly384=)
|
rs766934707
|
0.00002
|
|
NM_006445.4(PRPF8):c.2679G>A (p.Glu893=)
|
rs1004311291
|
0.00002
|
|
NM_006514.4(SCN10A):c.1397T>C (p.Val466Ala)
|
rs764168768
|
0.00002
|
|
NM_006514.4(SCN10A):c.3474C>G (p.Ile1158Met)
|
rs145568435
|
0.00002
|
|
NM_006514.4(SCN10A):c.3796G>A (p.Gly1266Ser)
|
rs199892190
|
0.00002
|
|
NM_006516.4(SLC2A1):c.1438G>A (p.Glu480Lys)
|
rs756304012
|
0.00002
|
|
NM_006516.4(SLC2A1):c.322G>A (p.Val108Met)
|
rs74323945
|
0.00002
|
|
NM_006516.4(SLC2A1):c.903G>A (p.Ala301=)
|
rs776461617
|
0.00002
|
|
NM_006517.5(SLC16A2):c.148G>A (p.Glu50Lys)
|
rs756065515
|
0.00002
|
|
NM_006612.6(KIF1C):c.499C>T (p.Arg167Trp)
|
rs185479618
|
0.00002
|
|
NM_006623.4(PHGDH):c.1365A>G (p.Pro455=)
|
rs1264262485
|
0.00002
|
|
NM_006623.4(PHGDH):c.804G>A (p.Arg268=)
|
rs587719252
|
0.00002
|
|
NM_006662.3(SRCAP):c.5518C>T (p.Arg1840Trp)
|
rs531238169
|
0.00002
|
|
NM_006662.3(SRCAP):c.8035G>A (p.Glu2679Lys)
|
rs765033647
|
0.00002
|
|
NM_006767.4(LZTR1):c.2265G>T (p.Arg755=)
|
rs370009707
|
0.00002
|
|
NM_006767.4(LZTR1):c.2326-6T>C
|
rs199965510
|
0.00002
|
|
NM_006767.4(LZTR1):c.264-9G>T
|
rs377233316
|
0.00002
|
|
NM_006772.3(SYNGAP1):c.1285C>T (p.Arg429Trp)
|
rs748333558
|
0.00002
|
|
NM_006772.3(SYNGAP1):c.432G>A (p.Thr144=)
|
rs765193793
|
0.00002
|
|
NM_006796.3(AFG3L2):c.841A>G (p.Thr281Ala)
|
rs200759046
|
0.00002
|
|
NM_006892.4(DNMT3B):c.1297+6G>A
|
rs755091404
|
0.00002
|
|
NM_006892.4(DNMT3B):c.516C>T (p.Asp172=)
|
rs202113400
|
0.00002
|
|
NM_006892.4(DNMT3B):c.810C>T (p.Ser270=)
|
rs140518698
|
0.00002
|
|
NM_006899.5(IDH3B):c.1011-9T>C
|
rs746209011
|
0.00002
|
|
NM_006904.7(PRKDC):c.1713C>T (p.Ser571=)
|
rs373088662
|
0.00002
|
|
NM_006914.4(RORB):c.1225-4G>A
|
rs774246940
|
0.00002
|
|
NM_006922.4(SCN3A):c.1773T>C (p.Asn591=)
|
rs76144052
|
0.00002
|
|
NM_006922.4(SCN3A):c.2019+8T>C
|
rs1159326316
|
0.00002
|
|
NM_006922.4(SCN3A):c.3084A>G (p.Lys1028=)
|
rs767052591
|
0.00002
|
|
NM_006922.4(SCN3A):c.4117T>C (p.Phe1373Leu)
|
rs977221211
|
0.00002
|
|
NM_006939.4(SOS2):c.2350C>T (p.Arg784Cys)
|
rs760520078
|
0.00002
|
|
NM_006939.4(SOS2):c.3547C>T (p.Pro1183Ser)
|
rs139401491
|
0.00002
|
|
NM_006939.4(SOS2):c.3735T>G (p.Asp1245Glu)
|
rs752525400
|
0.00002
|
|
NM_006941.4(SOX10):c.396T>C (p.Ala132=)
|
rs773304320
|
0.00002
|
|
NM_006946.4(SPTBN2):c.3717A>G (p.Val1239=)
|
rs369017203
|
0.00002
|
|
NM_006946.4(SPTBN2):c.5137C>T (p.Arg1713Cys)
|
rs754809056
|
0.00002
|
|
NM_006946.4(SPTBN2):c.5399C>T (p.Ala1800Val)
|
rs367960697
|
0.00002
|
|
NM_006946.4(SPTBN2):c.5404G>A (p.Glu1802Lys)
|
rs149317715
|
0.00002
|
|
NM_006946.4(SPTBN2):c.6063T>G (p.Asp2021Glu)
|
rs748137168
|
0.00002
|
|
NM_006946.4(SPTBN2):c.6535C>T (p.Arg2179Trp)
|
rs764921928
|
0.00002
|
|
NM_006946.4(SPTBN2):c.6536G>A (p.Arg2179Gln)
|
rs759206588
|
0.00002
|
|
NM_006946.4(SPTBN2):c.7039C>T (p.Arg2347Trp)
|
rs746195427
|
0.00002
|
|
NM_007078.3(LDB3):c.1256C>A (p.Ser419Tyr)
|
rs368888118
|
0.00002
|
|
NM_007103.4(NDUFV1):c.220G>A (p.Asp74Asn)
|
rs780851340
|
0.00002
|
|
NM_007126.5(VCP):c.1863C>T (p.Gly621=)
|
rs376510669
|
0.00002
|
|
NM_007194.4(CHEK2):c.*5C>T
|
rs587781367
|
0.00002
|
|
NM_007194.4(CHEK2):c.1462-7C>G
|
rs730881707
|
0.00002
|
|
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr)
|
rs371657037
|
0.00002
|
|
NM_007194.4(CHEK2):c.1586G>A (p.Gly529Asp)
|
rs751653049
|
0.00002
|
|
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met)
|
rs575910805
|
0.00002
|
|
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)
|
rs587781379
|
0.00002
|
|
NM_007215.4(POLG2):c.1105A>G (p.Arg369Gly)
|
rs201936720
|
0.00002
|
|
NM_007215.4(POLG2):c.1417G>A (p.Asp473Asn)
|
rs563130304
|
0.00002
|
|
NM_007215.4(POLG2):c.796-16A>C
|
rs1555668382
|
0.00002
|
|
NM_007254.4(PNKP):c.1030-5C>T
|
rs374745816
|
0.00002
|
|
NM_007294.4(BRCA1):c.1040T>A (p.Leu347Gln)
|
rs757987511
|
0.00002
|
|
NM_007294.4(BRCA1):c.1259A>G (p.Asp420Gly)
|
rs730881442
|
0.00002
|
|
NM_007294.4(BRCA1):c.1342C>T (p.His448Tyr)
|
rs786203578
|
0.00002
|
|
NM_007294.4(BRCA1):c.1361G>A (p.Ser454Asn)
|
rs80357181
|
0.00002
|
|
NM_007294.4(BRCA1):c.1723G>A (p.Glu575Lys)
|
rs397508902
|
0.00002
|
|
NM_007294.4(BRCA1):c.1762A>G (p.Ser588Gly)
|
rs1169162396
|
0.00002
|
|
NM_007294.4(BRCA1):c.19C>T (p.Arg7Cys)
|
rs80356994
|
0.00002
|
|
NM_007294.4(BRCA1):c.2005A>G (p.Met669Val)
|
rs561988641
|
0.00002
|
|
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr)
|
rs80356895
|
0.00002
|
|
NM_007294.4(BRCA1):c.2008G>A (p.Glu670Lys)
|
rs80357029
|
0.00002
|
|
NM_007294.4(BRCA1):c.2060A>C (p.Gln687Pro)
|
rs28897680
|
0.00002
|
|
NM_007294.4(BRCA1):c.2074C>T (p.His692Tyr)
|
rs545736576
|
0.00002
|
|
NM_007294.4(BRCA1):c.2263G>A (p.Glu755Lys)
|
rs41286296
|
0.00002
|
|
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr)
|
rs80357480
|
0.00002
|
|
NM_007294.4(BRCA1):c.2783G>A (p.Gly928Asp)
|
rs202004680
|
0.00002
|
|
NM_007294.4(BRCA1):c.2808T>G (p.Asp936Glu)
|
rs730881485
|
0.00002
|
|
NM_007294.4(BRCA1):c.2851A>G (p.Arg951Gly)
|
rs1347533994
|
0.00002
|
|
NM_007294.4(BRCA1):c.2897T>C (p.Ile966Thr)
|
rs879254045
|
0.00002
|
|
NM_007294.4(BRCA1):c.3012G>A (p.Glu1004=)
|
rs786201784
|
0.00002
|
|
NM_007294.4(BRCA1):c.3041T>A (p.Met1014Lys)
|
rs80357020
|
0.00002
|
|
NM_007294.4(BRCA1):c.3130A>G (p.Ile1044Val)
|
rs80357271
|
0.00002
|
|
NM_007294.4(BRCA1):c.3636A>G (p.Ser1212=)
|
rs148038877
|
0.00002
|
|
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp)
|
rs80356876
|
0.00002
|
|
NM_007294.4(BRCA1):c.3815A>G (p.Asn1272Ser)
|
rs772703445
|
0.00002
|
|
NM_007294.4(BRCA1):c.3835G>A (p.Ala1279Thr)
|
rs80357036
|
0.00002
|
|
NM_007294.4(BRCA1):c.4054G>A (p.Glu1352Lys)
|
rs80357202
|
0.00002
|
|
NM_007294.4(BRCA1):c.4097-11T>C
|
rs80358072
|
0.00002
|
|
NM_007294.4(BRCA1):c.4245A>G (p.Glu1415=)
|
rs41293453
|
0.00002
|
|
NM_007294.4(BRCA1):c.4676-7C>T
|
rs80358005
|
0.00002
|
|
NM_007294.4(BRCA1):c.4766G>A (p.Arg1589His)
|
rs80357341
|
0.00002
|
|
NM_007294.4(BRCA1):c.4955T>C (p.Met1652Thr)
|
rs80356968
|
0.00002
|
|
NM_007294.4(BRCA1):c.4993G>A (p.Val1665Met)
|
rs80357169
|
0.00002
|
|
NM_007294.4(BRCA1):c.4997A>G (p.Tyr1666Cys)
|
rs397509216
|
0.00002
|
|
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln)
|
rs397507239
|
0.00002
|
|
NM_007294.4(BRCA1):c.5074+6C>G
|
rs80358032
|
0.00002
|
|
NM_007294.4(BRCA1):c.509G>A (p.Arg170Gln)
|
rs80357264
|
0.00002
|
|
NM_007294.4(BRCA1):c.5153-6C>A
|
rs80358129
|
0.00002
|
|
NM_007294.4(BRCA1):c.522A>G (p.Gln174=)
|
rs765432756
|
0.00002
|
|
NM_007294.4(BRCA1):c.5429T>C (p.Val1810Ala)
|
rs80357451
|
0.00002
|
|
NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg)
|
rs80357323
|
0.00002
|
|
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg)
|
rs80357322
|
0.00002
|
|
NM_007294.4(BRCA1):c.733G>T (p.Asp245Tyr)
|
rs147519994
|
0.00002
|
|
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp)
|
rs397509327
|
0.00002
|
|
NM_007294.4(BRCA1):c.891G>A (p.Met297Ile)
|
rs80357103
|
0.00002
|
|
NM_007294.4(BRCA1):c.994C>T (p.Arg332Trp)
|
rs80357176
|
0.00002
|
|
NM_007325.5(GRIA3):c.106A>G (p.Ile36Val)
|
rs764200669
|
0.00002
|
|
NM_007327.4(GRIN1):c.794-11T>A
|
rs1347697507
|
0.00002
|
|
NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala)
|
rs730881018
|
0.00002
|
|
NM_007373.4(SHOC2):c.961A>G (p.Thr321Ala)
|
rs779218281
|
0.00002
|
|
NM_007375.4(TARDBP):c.963C>T (p.Ala321=)
|
rs547979470
|
0.00002
|
|
NM_012062.5(DNM1L):c.1356+5C>T
|
rs558306648
|
0.00002
|
|
NM_012203.2(GRHPR):c.108G>A (p.Ser36=)
|
rs377072887
|
0.00002
|
|
NM_012210.4(TRIM32):c.1140C>T (p.Thr380=)
|
rs142715198
|
0.00002
|
|
NM_012210.4(TRIM32):c.1530A>G (p.Leu510=)
|
rs145728860
|
0.00002
|
|
NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp)
|
rs572052810
|
0.00002
|
|
NM_012301.4(MAGI2):c.878C>T (p.Thr293Ile)
|
rs587780389
|
0.00002
|
|
NM_012330.4(KAT6B):c.4834C>T (p.Arg1612Cys)
|
rs140992439
|
0.00002
|
|
NM_012414.4(RAB3GAP2):c.2008C>G (p.Leu670Val)
|
rs201613456
|
0.00002
|
|
NM_012418.4(FSCN2):c.54C>T (p.Asn18=)
|
rs782414995
|
0.00002
|
|
NM_012431.3(SEMA3E):c.1172A>T (p.Tyr391Phe)
|
rs753965043
|
0.00002
|
|
NM_012431.3(SEMA3E):c.2143C>A (p.Gln715Lys)
|
rs538244011
|
0.00002
|
|
NM_012469.4(PRPF6):c.171G>C (p.Gly57=)
|
rs749669162
|
0.00002
|
|
NM_013247.5(HTRA2):c.873T>C (p.Asn291=)
|
rs775948550
|
0.00002
|
|
NM_013275.6(ANKRD11):c.301G>A (p.Gly101Arg)
|
rs1373571533
|
0.00002
|
|
NM_013382.7(POMT2):c.1654-8T>G
|
rs780532724
|
0.00002
|
|
NM_013444.4(UBQLN2):c.1019G>T (p.Ser340Ile)
|
rs201549050
|
0.00002
|
|
NM_014000.3(VCL):c.1404G>A (p.Thr468=)
|
rs772104870
|
0.00002
|
|
NM_014000.3(VCL):c.2746-14C>T
|
rs367598954
|
0.00002
|
|
NM_014000.3(VCL):c.783+5G>A
|
rs767694507
|
0.00002
|
|
NM_014000.3(VCL):c.808T>C (p.Leu270=)
|
rs727505339
|
0.00002
|
|
NM_014140.4(SMARCAL1):c.2778G>A (p.Leu926=)
|
rs373335368
|
0.00002
|
|
NM_014140.4(SMARCAL1):c.600G>A (p.Ser200=)
|
rs530505647
|
0.00002
|
|
NM_014141.6(CNTNAP2):c.1248G>A (p.Ala416=)
|
rs779901891
|
0.00002
|
|
NM_014141.6(CNTNAP2):c.1603G>A (p.Glu535Lys)
|
rs76475298
|
0.00002
|
|
NM_014141.6(CNTNAP2):c.2255+12C>T
|
rs749270618
|
0.00002
|
|
NM_014141.6(CNTNAP2):c.2340A>G (p.Ser780=)
|
rs778124698
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.2172G>C (p.Val724=)
|
rs150587776
|
0.00002
|
|
NM_014244.5(ADAMTS2):c.3423G>A (p.Glu1141=)
|
rs886060490
|
0.00002
|
|
NM_014249.4(NR2E3):c.572-13C>T
|
rs376114936
|
0.00002
|
|
NM_014251.3(SLC25A13):c.1344T>C (p.Pro448=)
|
rs1037190907
|
0.00002
|
|
NM_014251.3(SLC25A13):c.1506G>A (p.Pro502=)
|
rs144494809
|
0.00002
|
|
NM_014270.5(SLC7A9):c.201C>T (p.Ile67=)
|
rs371635071
|
0.00002
|
|
NM_014290.3(TDRD7):c.1032A>G (p.Lys344=)
|
rs111320552
|
0.00002
|
|
NM_014317.5(PDSS1):c.218G>A (p.Arg73His)
|
rs759788602
|
0.00002
|
|
NM_014319.5(LEMD3):c.636G>A (p.Gly212=)
|
rs771253349
|
0.00002
|
|
NM_014336.5(AIPL1):c.414C>T (p.Asp138=)
|
rs565896898
|
0.00002
|
|
NM_014339.7(IL17RA):c.1167C>G (p.Pro389=)
|
rs139412425
|
0.00002
|
|
NM_014363.6(SACS):c.10485G>A (p.Glu3495=)
|
rs757255802
|
0.00002
|
|
NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys)
|
rs747013127
|
0.00002
|
|
NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser)
|
rs376188585
|
0.00002
|
|
NM_014363.6(SACS):c.11776G>A (p.Asp3926Asn)
|
rs756252903
|
0.00002
|
|
NM_014363.6(SACS):c.2686C>T (p.Leu896Phe)
|
rs760556327
|
0.00002
|
|
NM_014363.6(SACS):c.4955A>G (p.Gln1652Arg)
|
rs148824690
|
0.00002
|
|
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile)
|
rs201724656
|
0.00002
|
|
NM_014363.6(SACS):c.5630G>A (p.Arg1877Gln)
|
rs772866081
|
0.00002
|
|
NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu)
|
rs747566710
|
0.00002
|
|
NM_014363.6(SACS):c.6240T>C (p.Val2080=)
|
rs550680855
|
0.00002
|
|
NM_014363.6(SACS):c.7466C>A (p.Pro2489His)
|
rs766553685
|
0.00002
|
|
NM_014363.6(SACS):c.8958C>T (p.His2986=)
|
rs758029668
|
0.00002
|
|
NM_014363.6(SACS):c.8971C>T (p.Arg2991Cys)
|
rs759112797
|
0.00002
|
|
NM_014363.6(SACS):c.9805G>A (p.Asp3269Asn)
|
rs754144089
|
0.00002
|
|
NM_014384.3(ACAD8):c.491-6C>T
|
rs772337149
|
0.00002
|
|
NM_014585.6(SLC40A1):c.272-14C>T
|
rs771203234
|
0.00002
|
|
NM_014629.4(ARHGEF10):c.2878G>C (p.Ala960Pro)
|
rs766536002
|
0.00002
|
|
NM_014639.4(SKIC3):c.2369C>T (p.Ala790Val)
|
rs750530127
|
0.00002
|
|
NM_014639.4(SKIC3):c.3637G>A (p.Gly1213Arg)
|
rs763389035
|
0.00002
|
|
NM_014639.4(SKIC3):c.4534C>T (p.Pro1512Ser)
|
rs200707804
|
0.00002
|
|
NM_014714.4(IFT140):c.1155+15G>A
|
rs764275810
|
0.00002
|
|
NM_014714.4(IFT140):c.1944C>T (p.Pro648=)
|
rs763449097
|
0.00002
|
|
NM_014714.4(IFT140):c.3390C>T (p.Ser1130=)
|
rs765923171
|
0.00002
|
|
NM_014714.4(IFT140):c.3602G>A (p.Arg1201His)
|
rs147292597
|
0.00002
|
|
NM_014727.3(KMT2B):c.5425G>A (p.Ala1809Thr)
|
rs377420237
|
0.00002
|
|
NM_014727.3(KMT2B):c.5711C>T (p.Pro1904Leu)
|
rs777489488
|
0.00002
|
|
NM_014780.5(CUL7):c.3861C>T (p.Ala1287=)
|
rs745678508
|
0.00002
|
|
NM_014795.4(ZEB2):c.2352T>C (p.Ser784=)
|
rs201990887
|
0.00002
|
|
NM_014795.4(ZEB2):c.309A>G (p.Leu103=)
|
rs187331667
|
0.00002
|
|
NM_014844.5(TECPR2):c.1788A>G (p.Gly596=)
|
rs1330988861
|
0.00002
|
|
NM_014855.3(AP5Z1):c.702C>T (p.Asp234=)
|
rs370728528
|
0.00002
|
|
NM_014855.3(AP5Z1):c.994C>T (p.Leu332=)
|
rs1045333933
|
0.00002
|
|
NM_014915.3(ANKRD26):c.501G>T (p.Leu167Phe)
|
rs183398279
|
0.00002
|
|
NM_014946.4(SPAST):c.*11T>C
|
rs753913367
|
0.00002
|
|
NM_014946.4(SPAST):c.878C>T (p.Pro293Leu)
|
rs773193617
|
0.00002
|
|
NM_015046.7(SETX):c.855T>C (p.Pro285=)
|
rs141736312
|
0.00002
|
|
NM_015102.5(NPHP4):c.3348C>T (p.Ile1116=)
|
rs751938743
|
0.00002
|
|
NM_015102.5(NPHP4):c.578C>T (p.Pro193Leu)
|
rs779760001
|
0.00002
|
|
NM_015141.4(GPD1L):c.691C>T (p.Arg231Cys)
|
rs143486835
|
0.00002
|
|
NM_015178.3(RHOBTB2):c.996C>G (p.His332Gln)
|
rs1211242747
|
0.00002
|
|
NM_015192.4(PLCB1):c.3477C>T (p.Leu1159=)
|
rs774970817
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=)
|
rs775153934
|
0.00002
|
|
NM_015294.6(TRIM37):c.2280G>A (p.Ser760=)
|
rs767616734
|
0.00002
|
|
NM_015338.6(ASXL1):c.1495C>T (p.Arg499Cys)
|
rs376089258
|
0.00002
|
|
NM_015338.6(ASXL1):c.3359A>T (p.Lys1120Met)
|
rs778883995
|
0.00002
|
|
NM_015340.4(LARS2):c.2404+4C>T
|
rs199693918
|
0.00002
|
|
NM_015404.4(WHRN):c.1360G>A (p.Val454Ile)
|
rs370178817
|
0.00002
|
|
NM_015404.4(WHRN):c.139A>G (p.Thr47Ala)
|
rs556585167
|
0.00002
|
|
NM_015443.4(KANSL1):c.112G>A (p.Gly38Ser)
|
rs770738115
|
0.00002
|
|
NM_015450.3(POT1):c.747A>G (p.Gln249=)
|
rs35361862
|
0.00002
|
|
NM_015459.5(ATL3):c.1500C>T (p.Gly500=)
|
rs202227458
|
0.00002
|
|
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln)
|
rs765822392
|
0.00002
|
|
NM_015570.4(AUTS2):c.2120G>A (p.Arg707Gln)
|
rs757599242
|
0.00002
|
|
NM_015909.4(NBAS):c.5300A>G (p.Glu1767Gly)
|
rs758597880
|
0.00002
|
|
NM_015915.5(ATL1):c.756C>T (p.Asn252=)
|
rs771031586
|
0.00002
|
|
NM_016042.4(EXOSC3):c.324+15C>T
|
rs775818894
|
0.00002
|
|
NM_016065.4(MRPS16):c.344C>T (p.Ala115Val)
|
rs537369433
|
0.00002
|
|
NM_016123.4(IRAK4):c.1191A>G (p.Leu397=)
|
rs773095217
|
0.00002
|
|
NM_016156.6(MTMR2):c.1862G>A (p.Arg621Gln)
|
rs371925152
|
0.00002
|
|
NM_016169.4(SUFU):c.275G>C (p.Ser92Thr)
|
rs746322193
|
0.00002
|
|
NM_016203.4(PRKAG2):c.1051+3A>G
|
rs376499470
|
0.00002
|
|
NM_016203.4(PRKAG2):c.138G>A (p.Pro46=)
|
rs767613486
|
0.00002
|
|
NM_016203.4(PRKAG2):c.685-5C>A
|
rs779931367
|
0.00002
|
|
NM_016219.5(MAN1B1):c.1255-13C>T
|
rs765403325
|
0.00002
|
|
NM_016219.5(MAN1B1):c.1764+9G>C
|
rs377406887
|
0.00002
|
|
NM_016219.5(MAN1B1):c.657C>T (p.Thr219=)
|
rs564784943
|
0.00002
|
|
NM_016219.5(MAN1B1):c.975C>T (p.Asp325=)
|
rs202157161
|
0.00002
|
|
NM_016239.4(MYO15A):c.2017G>A (p.Gly673Arg)
|
rs1462012083
|
0.00002
|
|
NM_016239.4(MYO15A):c.4483-6G>A
|
rs771397877
|
0.00002
|
|
NM_016239.4(MYO15A):c.9023C>T (p.Pro3008Leu)
|
rs765934820
|
0.00002
|
|
NM_016341.4(PLCE1):c.599C>T (p.Thr200Ile)
|
rs777436865
|
0.00002
|
|
NM_016356.5(DCDC2):c.1099T>A (p.Ser367Thr)
|
rs538198742
|
0.00002
|
|
NM_016938.5(EFEMP2):c.368-5C>T
|
rs201248112
|
0.00002
|
|
NM_017534.6(MYH2):c.5115A>G (p.Arg1705=)
|
rs1042270
|
0.00002
|
|
NM_017547.4(FOXRED1):c.25G>C (p.Gly9Arg)
|
rs372318280
|
0.00002
|
|
NM_017617.5(NOTCH1):c.1357G>A (p.Val453Ile)
|
rs761629787
|
0.00002
|
|
NM_017617.5(NOTCH1):c.2297G>T (p.Gly766Val)
|
rs374434131
|
0.00002
|
|
NM_017617.5(NOTCH1):c.6749C>T (p.Ala2250Val)
|
rs777809068
|
0.00002
|
|
NM_017617.5(NOTCH1):c.823G>A (p.Gly275Ser)
|
rs371333249
|
0.00002
|
|
NM_017636.4(TRPM4):c.3377C>G (p.Ser1126Trp)
|
rs567938424
|
0.00002
|
|
NM_017654.4(SAMD9):c.1191A>G (p.Leu397=)
|
rs1791604504
|
0.00002
|
|
NM_017654.4(SAMD9):c.521G>A (p.Arg174His)
|
rs779289964
|
0.00002
|
|
NM_017721.5(CC2D1A):c.822C>T (p.Ala274=)
|
rs1179685623
|
0.00002
|
|
NM_017755.6(NSUN2):c.174G>A (p.Val58=)
|
rs745966593
|
0.00002
|
|
NM_017777.4(MKS1):c.279C>T (p.Tyr93=)
|
rs187870415
|
0.00002
|
|
NM_017777.4(MKS1):c.644+9C>T
|
rs754404940
|
0.00002
|
|
NM_017780.4(CHD7):c.3487A>G (p.Met1163Val)
|
rs886044534
|
0.00002
|
|
NM_017780.4(CHD7):c.5859G>A (p.Ala1953=)
|
rs587783449
|
0.00002
|
|
NM_017780.4(CHD7):c.7009C>T (p.Arg2337Cys)
|
rs765610436
|
0.00002
|
|
NM_017780.4(CHD7):c.7346G>C (p.Arg2449Thr)
|
rs727503870
|
0.00002
|
|
NM_017841.4(SDHAF2):c.98G>A (p.Arg33His)
|
rs777442412
|
0.00002
|
|
NM_017866.6(TMEM70):c.210+11C>G
|
rs928358741
|
0.00002
|
|
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser)
|
rs763944821
|
0.00002
|
|
NM_018006.5(TRMU):c.18C>T (p.His6=)
|
rs527315924
|
0.00002
|
|
NM_018006.5(TRMU):c.83-4G>A
|
rs369925943
|
0.00002
|
|
NM_018100.4(EFHC1):c.43A>G (p.Thr15Ala)
|
rs750899949
|
0.00002
|
|
NM_018105.3(THAP1):c.267+6A>G
|
rs373843959
|
0.00002
|
|
NM_018109.4(MTPAP):c.1640A>G (p.Asn547Ser)
|
rs372811219
|
0.00002
|
|
NM_018129.4(PNPO):c.16C>A (p.Arg6=)
|
rs765997859
|
0.00002
|
|
NM_018136.5(ASPM):c.1790G>A (p.Arg597Gln)
|
rs377444313
|
0.00002
|
|
NM_018136.5(ASPM):c.2103G>A (p.Gln701=)
|
rs370972881
|
0.00002
|
|
NM_018136.5(ASPM):c.2205G>A (p.Glu735=)
|
rs755350285
|
0.00002
|
|
NM_018136.5(ASPM):c.4209T>C (p.His1403=)
|
rs776523167
|
0.00002
|
|
NM_018136.5(ASPM):c.8203T>G (p.Phe2735Val)
|
rs372416792
|
0.00002
|
|
NM_018206.6(VPS35):c.1809A>T (p.Ala603=)
|
rs142063738
|
0.00002
|
|
NM_018206.6(VPS35):c.648G>A (p.Leu216=)
|
rs763697798
|
0.00002
|
|
NM_018368.4(LMBRD1):c.897C>T (p.Gly299=)
|
rs757392138
|
0.00002
|
|
NM_018389.5(SLC35C1):c.51C>T (p.Thr17=)
|
rs768517924
|
0.00002
|
|
NM_018668.5(VPS33B):c.1014C>T (p.His338=)
|
rs765002211
|
0.00002
|
|
NM_018668.5(VPS33B):c.198A>G (p.Leu66=)
|
rs1416595652
|
0.00002
|
|
NM_018714.3(COG1):c.1890G>A (p.Gln630=)
|
rs146046236
|
0.00002
|
|
NM_018834.6(MATR3):c.2114G>T (p.Ser705Ile)
|
rs201970174
|
0.00002
|
|
NM_018834.6(MATR3):c.2251G>A (p.Ala751Thr)
|
rs774158046
|
0.00002
|
|
NM_018896.5(CACNA1G):c.1588C>T (p.Arg530Cys)
|
rs776897967
|
0.00002
|
|
NM_018979.4(WNK1):c.5325C>T (p.Ser1775=)
|
rs373370309
|
0.00002
|
|
NM_019098.5(CNGB3):c.2103+8G>A
|
rs775059176
|
0.00002
|
|
NM_019109.5(ALG1):c.208+14_208+17dup
|
rs746780708
|
0.00002
|
|
NM_019892.6(INPP5E):c.1407C>T (p.Phe469=)
|
rs377483407
|
0.00002
|
|
NM_020166.5(MCCC1):c.144C>T (p.Asn48=)
|
rs77681010
|
0.00002
|
|
NM_020184.4(CNNM4):c.927T>C (p.Phe309=)
|
rs373657140
|
0.00002
|
|
NM_020247.5(COQ8A):c.853+10C>T
|
rs367945973
|
0.00002
|
|
NM_020297.4(ABCC9):c.3060G>A (p.Ser1020=)
|
rs769003781
|
0.00002
|
|
NM_020366.4(RPGRIP1):c.1401A>G (p.Gln467=)
|
rs184853466
|
0.00002
|
|
NM_020376.4(PNPLA2):c.1090C>T (p.Arg364Trp)
|
rs577421006
|
0.00002
|
|
NM_020376.4(PNPLA2):c.36C>T (p.Phe12=)
|
rs750233571
|
0.00002
|
|
NM_020461.4(TUBGCP6):c.5169-5C>T
|
rs777828441
|
0.00002
|
|
NM_020533.3(MCOLN1):c.1074C>T (p.Leu358=)
|
rs535003448
|
0.00002
|
|
NM_020533.3(MCOLN1):c.1237-12G>A
|
rs763017059
|
0.00002
|
|
NM_020533.3(MCOLN1):c.815C>G (p.Pro272Arg)
|
rs183077397
|
0.00002
|
|
NM_020631.6(PLEKHG5):c.2433C>T (p.Arg811=)
|
rs759272412
|
0.00002
|
|
NM_020661.4(AICDA):c.376C>T (p.Leu126=)
|
rs999930122
|
0.00002
|
|
NM_020717.5(SHROOM4):c.3626C>T (p.Ala1209Val)
|
rs782400213
|
0.00002
|
|
NM_020754.4(ARHGAP31):c.2412G>A (p.Pro804=)
|
rs776194035
|
0.00002
|
|
NM_020778.5(ALPK3):c.186C>T (p.Ser62=)
|
rs116058119
|
0.00002
|
|
NM_020778.5(ALPK3):c.1916C>T (p.Thr639Met)
|
rs151054715
|
0.00002
|
|
NM_020778.5(ALPK3):c.2456G>A (p.Arg819Gln)
|
rs116079740
|
0.00002
|
|
NM_020812.4(DOCK6):c.4350G>C (p.Leu1450=)
|
rs763073235
|
0.00002
|
|
NM_020821.3(VPS13C):c.3052-5T>G
|
rs372141774
|
0.00002
|
|
NM_020822.3(KCNT1):c.104C>T (p.Ala35Val)
|
rs772080195
|
0.00002
|
|
NM_020822.3(KCNT1):c.1838G>A (p.Arg613Gln)
|
rs571757257
|
0.00002
|
|
NM_020822.3(KCNT1):c.1927C>T (p.Arg643Trp)
|
rs532620254
|
0.00002
|
|
NM_020822.3(KCNT1):c.2949C>T (p.Phe983=)
|
rs764574987
|
0.00002
|
|
NM_020822.3(KCNT1):c.3196G>A (p.Val1066Met)
|
rs553389226
|
0.00002
|
|
NM_020822.3(KCNT1):c.3244C>T (p.Arg1082Cys)
|
rs776232246
|
0.00002
|
|
NM_020822.3(KCNT1):c.3502G>A (p.Asp1168Asn)
|
rs747317425
|
0.00002
|
|
NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys)
|
rs146070496
|
0.00002
|
|
NM_020928.2(ZSWIM6):c.2108G>A (p.Arg703His)
|
rs995265434
|
0.00002
|
|
NM_020937.4(FANCM):c.5066C>T (p.Ala1689Val)
|
rs759068569
|
0.00002
|
|
NM_020944.3(GBA2):c.2054+6C>T
|
rs148315388
|
0.00002
|
|
NM_020949.3(SLC7A14):c.2108C>T (p.Ser703Leu)
|
rs371346143
|
0.00002
|
|
NM_020964.3(EPG5):c.1104C>T (p.Phe368=)
|
rs562098384
|
0.00002
|
|
NM_020975.6(RET):c.1860C>T (p.Cys620=)
|
rs79890926
|
0.00002
|
|
NM_020975.6(RET):c.1920C>T (p.Ala640=)
|
rs149768519
|
0.00002
|
|
NM_020975.6(RET):c.1941C>T (p.Ile647=)
|
rs75225191
|
0.00002
|
|
NM_020975.6(RET):c.3200C>T (p.Pro1067Leu)
|
rs760625882
|
0.00002
|
|
NM_020975.6(RET):c.867+4del
|
rs398124368
|
0.00002
|
|
NM_021098.3(CACNA1H):c.1421G>A (p.Arg474His)
|
rs769636919
|
0.00002
|
|
NM_021098.3(CACNA1H):c.563T>C (p.Leu188Ser)
|
rs767275498
|
0.00002
|
|
NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala)
|
rs146304351
|
0.00002
|
|
NM_021625.5(TRPV4):c.651G>A (p.Ala217=)
|
rs371280831
|
0.00002
|
|
NM_021830.5(TWNK):c.1021C>T (p.Arg341Cys)
|
rs566579080
|
0.00002
|
|
NM_022041.4(GAN):c.1518C>T (p.Asn506=)
|
rs886052333
|
0.00002
|
|
NM_022051.3(EGLN1):c.522C>T (p.Ser174=)
|
rs767045832
|
0.00002
|
|
NM_022089.4(ATP13A2):c.1900C>G (p.Leu634Val)
|
rs543531903
|
0.00002
|
|
NM_022124.6(CDH23):c.1062C>T (p.Ser354=)
|
rs775091135
|
0.00002
|
|
NM_022124.6(CDH23):c.1317C>T (p.Asp439=)
|
rs748828988
|
0.00002
|
|
NM_022124.6(CDH23):c.1472C>T (p.Thr491Ile)
|
rs397517307
|
0.00002
|
|
NM_022124.6(CDH23):c.321C>G (p.Val107=)
|
rs761122371
|
0.00002
|
|
NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu)
|
rs554938323
|
0.00002
|
|
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr)
|
rs397517334
|
0.00002
|
|
NM_022168.4(IFIH1):c.1701G>A (p.Met567Ile)
|
rs765060493
|
0.00002
|
|
NM_022356.4(P3H1):c.1620C>T (p.Asn540=)
|
rs140334418
|
0.00002
|
|
NM_022356.4(P3H1):c.1944C>T (p.Ala648=)
|
rs760909376
|
0.00002
|
|
NM_022436.3(ABCG5):c.282G>A (p.Thr94=)
|
rs756339433
|
0.00002
|
|
NM_022436.3(ABCG5):c.511G>A (p.Val171Ile)
|
rs777411661
|
0.00002
|
|
NM_022436.3(ABCG5):c.804C>T (p.Phe268=)
|
rs554183818
|
0.00002
|
|
NM_022437.3(ABCG8):c.1596C>T (p.Phe532=)
|
rs374820261
|
0.00002
|
|
NM_022437.3(ABCG8):c.165+10C>T
|
rs574722652
|
0.00002
|
|
NM_022437.3(ABCG8):c.1667T>C (p.Phe556Ser)
|
rs548098742
|
0.00002
|
|
NM_022437.3(ABCG8):c.695-7T>C
|
rs374648568
|
0.00002
|
|
NM_022455.5(NSD1):c.241A>G (p.Met81Val)
|
rs763781326
|
0.00002
|
|
NM_022455.5(NSD1):c.6848T>C (p.Leu2283Pro)
|
rs776592297
|
0.00002
|
|
NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala)
|
rs754309202
|
0.00002
|
|
NM_022455.5(NSD1):c.7923T>C (p.Ala2641=)
|
rs147033795
|
0.00002
|
|
NM_022489.4(INF2):c.1208A>G (p.Glu403Gly)
|
rs1356183663
|
0.00002
|
|
NM_022489.4(INF2):c.1811G>A (p.Arg604Gln)
|
rs752971046
|
0.00002
|
|
NM_022489.4(INF2):c.1979G>A (p.Arg660Gln)
|
rs756754311
|
0.00002
|
|
NM_022489.4(INF2):c.2572G>A (p.Val858Met)
|
rs201292830
|
0.00002
|
|
NM_022489.4(INF2):c.2891C>G (p.Pro964Arg)
|
rs748286029
|
0.00002
|
|
NM_022489.4(INF2):c.3080C>T (p.Thr1027Met)
|
rs760488958
|
0.00002
|
|
NM_022489.4(INF2):c.3704_3705del (p.Pro1235fs)
|
rs763988639
|
0.00002
|
|
NM_023036.6(DNAI2):c.290G>A (p.Arg97Gln)
|
rs775926673
|
0.00002
|
|
NM_023110.3(FGFR1):c.243C>T (p.Ile81=)
|
rs764340351
|
0.00002
|
|
NM_024105.4(ALG12):c.163-4G>A
|
rs776043296
|
0.00002
|
|
NM_024105.4(ALG12):c.57C>T (p.Ala19=)
|
rs763942380
|
0.00002
|
|
NM_024301.5(FKRP):c.483C>T (p.Ala161=)
|
rs797045576
|
0.00002
|
|
NM_024312.5(GNPTAB):c.513A>G (p.Ala171=)
|
rs371813268
|
0.00002
|
|
NM_024334.3(TMEM43):c.31C>T (p.Arg11Trp)
|
rs201085402
|
0.00002
|
|
NM_024334.3(TMEM43):c.323T>C (p.Val108Ala)
|
rs182351748
|
0.00002
|
|
NM_024334.3(TMEM43):c.747C>T (p.Ser249=)
|
rs549809535
|
0.00002
|
|
NM_024408.4(NOTCH2):c.4002C>G (p.Pro1334=)
|
rs1390174762
|
0.00002
|
|
NM_024422.6(DSC2):c.1231A>G (p.Lys411Glu)
|
rs560482778
|
0.00002
|
|
NM_024422.6(DSC2):c.1401G>A (p.Glu467=)
|
rs977781359
|
0.00002
|
|
NM_024422.6(DSC2):c.1456G>A (p.Val486Met)
|
rs188634770
|
0.00002
|
|
NM_024422.6(DSC2):c.149G>A (p.Gly50Asp)
|
rs397517391
|
0.00002
|
|
NM_024422.6(DSC2):c.2138C>T (p.Thr713Met)
|
rs180863872
|
0.00002
|
|
NM_024422.6(DSC2):c.2381C>T (p.Ser794Leu)
|
rs1617629
|
0.00002
|
|
NM_024513.4(FYCO1):c.3825G>A (p.Pro1275=)
|
rs748985200
|
0.00002
|
|
NM_024570.4(RNASEH2B):c.360C>T (p.Asn120=)
|
rs759273327
|
0.00002
|
|
NM_024577.4(SH3TC2):c.1942C>T (p.Arg648Trp)
|
rs537049075
|
0.00002
|
|
NM_024596.5(MCPH1):c.671-3C>T
|
rs374793979
|
0.00002
|
|
NM_024675.4(PALB2):c.1054G>C (p.Glu352Gln)
|
rs201035780
|
0.00002
|
|
NM_024675.4(PALB2):c.1213C>G (p.Pro405Ala)
|
rs545119348
|
0.00002
|
|
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg)
|
rs749494645
|
0.00002
|
|
NM_024675.4(PALB2):c.149A>C (p.Lys50Thr)
|
rs763598472
|
0.00002
|
|
NM_024675.4(PALB2):c.1599T>C (p.Thr533=)
|
rs786201088
|
0.00002
|
|
NM_024675.4(PALB2):c.1767G>A (p.Thr589=)
|
rs769849072
|
0.00002
|
|
NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn)
|
rs587781818
|
0.00002
|
|
NM_024675.4(PALB2):c.2228A>G (p.Tyr743Cys)
|
rs141749524
|
0.00002
|
|
NM_024675.4(PALB2):c.2360C>T (p.Thr787Ile)
|
rs201042302
|
0.00002
|
|
NM_024675.4(PALB2):c.2417C>T (p.Pro806Leu)
|
rs45464991
|
0.00002
|
|
NM_024675.4(PALB2):c.2903C>G (p.Ala968Gly)
|
rs369132015
|
0.00002
|
|
NM_024675.4(PALB2):c.2978C>T (p.Thr993Met)
|
rs61756146
|
0.00002
|
|
NM_024675.4(PALB2):c.304G>A (p.Val102Ile)
|
rs778573607
|
0.00002
|
|
NM_024675.4(PALB2):c.3356T>C (p.Leu1119Pro)
|
rs515726116
|
0.00002
|
|
NM_024675.4(PALB2):c.3432C>T (p.Leu1144=)
|
rs748363227
|
0.00002
|
|
NM_024675.4(PALB2):c.746C>T (p.Pro249Leu)
|
rs759810283
|
0.00002
|
|
NM_024675.4(PALB2):c.995T>A (p.Leu332His)
|
rs377149139
|
0.00002
|
|
NM_024678.6(NARS2):c.689+6A>G
|
rs747028018
|
0.00002
|
|
NM_024741.3(ZNF408):c.131C>T (p.Pro44Leu)
|
rs199531284
|
0.00002
|
|
NM_024753.5(TTC21B):c.121T>C (p.Phe41Leu)
|
rs776138424
|
0.00002
|
|
NM_024753.5(TTC21B):c.2972G>A (p.Arg991His)
|
rs141708554
|
0.00002
|
|
NM_024757.5(EHMT1):c.1160G>A (p.Arg387His)
|
rs776502547
|
0.00002
|
|
NM_024757.5(EHMT1):c.183C>T (p.Ser61=)
|
rs774448433
|
0.00002
|
|
NM_024757.5(EHMT1):c.463C>G (p.Leu155Val)
|
rs1003872402
|
0.00002
|
|
NM_024757.5(EHMT1):c.713A>G (p.Asn238Ser)
|
rs1004363452
|
0.00002
|
|
NM_024818.6(UBA5):c.162-7T>C
|
rs769919837
|
0.00002
|
|
NM_024884.3(L2HGDH):c.627A>G (p.Ala209=)
|
rs564306903
|
0.00002
|
|
NM_024996.7(GFM1):c.1626A>G (p.Gln542=)
|
rs139042191
|
0.00002
|
|
NM_025000.4(DCAF17):c.230+15A>G
|
rs778241115
|
0.00002
|
|
NM_025103.4(IFT74):c.304A>C (p.Arg102=)
|
rs761465255
|
0.00002
|
|
NM_025137.4(SPG11):c.1182G>A (p.Gly394=)
|
rs199968487
|
0.00002
|
|
NM_025137.4(SPG11):c.176C>T (p.Ala59Val)
|
rs552320263
|
0.00002
|
|
NM_025137.4(SPG11):c.3146-6T>G
|
rs777849932
|
0.00002
|
|
NM_025137.4(SPG11):c.5040G>T (p.Leu1680=)
|
rs748057725
|
0.00002
|
|
NM_025137.4(SPG11):c.5407C>T (p.Leu1803=)
|
rs200102584
|
0.00002
|
|
NM_025193.4(HSD3B7):c.431+7_431+8insA
|
rs1343784849
|
0.00002
|
|
NM_025215.6(PUS1):c.216T>C (p.Gly72=)
|
rs766451588
|
0.00002
|
|
NM_025219.3(DNAJC5):c.444C>T (p.Phe148=)
|
rs772254851
|
0.00002
|
|
NM_030662.4(MAP2K2):c.450+14G>A
|
rs397517414
|
0.00002
|
|
NM_030662.4(MAP2K2):c.529-10T>C
|
rs551098822
|
0.00002
|
|
NM_030662.4(MAP2K2):c.535C>T (p.Arg179Trp)
|
rs370799450
|
0.00002
|
|
NM_030662.4(MAP2K2):c.952A>G (p.Ile318Val)
|
rs1064797064
|
0.00002
|
|
NM_030665.4(RAI1):c.239G>A (p.Arg80Gln)
|
rs372896387
|
0.00002
|
|
NM_030665.4(RAI1):c.2545G>A (p.Asp849Asn)
|
rs866732668
|
0.00002
|
|
NM_030665.4(RAI1):c.2700C>T (p.Thr900=)
|
rs370400740
|
0.00002
|
|
NM_030665.4(RAI1):c.4625G>A (p.Arg1542Gln)
|
rs184604492
|
0.00002
|
|
NM_031407.7(HUWE1):c.1000A>G (p.Ile334Val)
|
rs781928056
|
0.00002
|
|
NM_031407.7(HUWE1):c.1188C>T (p.Tyr396=)
|
rs782115290
|
0.00002
|
|
NM_031407.7(HUWE1):c.1243-8C>T
|
rs781931508
|
0.00002
|
|
NM_031407.7(HUWE1):c.6073G>A (p.Ala2025Thr)
|
rs782688724
|
0.00002
|
|
NM_031407.7(HUWE1):c.6149G>A (p.Arg2050Gln)
|
rs782428636
|
0.00002
|
|
NM_031433.4(MFRP):c.303C>T (p.Ser101=)
|
rs530322096
|
0.00002
|
|
NM_031844.3(HNRNPU):c.1395A>G (p.Pro465=)
|
rs761416400
|
0.00002
|
|
NM_031885.5(BBS2):c.1910+9T>G
|
rs751604858
|
0.00002
|
|
NM_031885.5(BBS2):c.2088T>C (p.Thr696=)
|
rs886052144
|
0.00002
|
|
NM_031935.3(HMCN1):c.2768G>A (p.Arg923Gln)
|
rs144772706
|
0.00002
|
|
NM_031935.3(HMCN1):c.8764C>A (p.Leu2922Ile)
|
rs200871004
|
0.00002
|
|
NM_032043.3(BRIP1):c.1644T>C (p.Tyr548=)
|
rs372760869
|
0.00002
|
|
NM_032043.3(BRIP1):c.2406C>T (p.Asp802=)
|
rs748981650
|
0.00002
|
|
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly)
|
rs4988356
|
0.00002
|
|
NM_032043.3(BRIP1):c.2893A>C (p.Arg965=)
|
rs113697814
|
0.00002
|
|
NM_032043.3(BRIP1):c.2905+4T>C
|
rs373835270
|
0.00002
|
|
NM_032043.3(BRIP1):c.617C>T (p.Ser206Leu)
|
rs565458815
|
0.00002
|
|
NM_032043.3(BRIP1):c.736A>G (p.Ile246Val)
|
rs376893571
|
0.00002
|
|
NM_032043.3(BRIP1):c.778A>G (p.Thr260Ala)
|
rs138743097
|
0.00002
|
|
NM_032043.3(BRIP1):c.924A>G (p.Lys308=)
|
rs374974885
|
0.00002
|
|
NM_032119.4(ADGRV1):c.10142A>G (p.Asp3381Gly)
|
rs768784845
|
0.00002
|
|
NM_032119.4(ADGRV1):c.12485T>C (p.Ile4162Thr)
|
rs370746571
|
0.00002
|
|
NM_032119.4(ADGRV1):c.12767A>T (p.Asn4256Ile)
|
rs750752068
|
0.00002
|
|
NM_032119.4(ADGRV1):c.12896G>A (p.Arg4299Gln)
|
rs767181564
|
0.00002
|
|
NM_032119.4(ADGRV1):c.14304G>A (p.Ser4768=)
|
rs373822878
|
0.00002
|
|
NM_032119.4(ADGRV1):c.14319A>G (p.Ile4773Met)
|
rs201953675
|
0.00002
|
|
NM_032119.4(ADGRV1):c.14931A>G (p.Leu4977=)
|
rs760841840
|
0.00002
|
|
NM_032119.4(ADGRV1):c.1505C>T (p.Ala502Val)
|
rs367826825
|
0.00002
|
|
NM_032119.4(ADGRV1):c.15719C>T (p.Thr5240Ile)
|
rs768299251
|
0.00002
|
|
NM_032119.4(ADGRV1):c.17518T>C (p.Tyr5840His)
|
rs757218098
|
0.00002
|
|
NM_032119.4(ADGRV1):c.21A>C (p.Pro7=)
|
rs727504831
|
0.00002
|
|
NM_032119.4(ADGRV1):c.3580G>C (p.Asp1194His)
|
rs779520200
|
0.00002
|
|
NM_032119.4(ADGRV1):c.3775T>A (p.Ser1259Thr)
|
rs376900429
|
0.00002
|
|
NM_032119.4(ADGRV1):c.3838G>A (p.Asp1280Asn)
|
rs184031236
|
0.00002
|
|
NM_032119.4(ADGRV1):c.442T>C (p.Ser148Pro)
|
rs769994130
|
0.00002
|
|
NM_032119.4(ADGRV1):c.4550G>T (p.Arg1517Ile)
|
rs756555904
|
0.00002
|
|
NM_032119.4(ADGRV1):c.4975G>A (p.Glu1659Lys)
|
rs775893405
|
0.00002
|
|
NM_032119.4(ADGRV1):c.5835G>A (p.Lys1945=)
|
rs569899625
|
0.00002
|
|
NM_032119.4(ADGRV1):c.5969T>C (p.Val1990Ala)
|
rs376559614
|
0.00002
|
|
NM_032119.4(ADGRV1):c.6524T>C (p.Val2175Ala)
|
rs771811961
|
0.00002
|
|
NM_032119.4(ADGRV1):c.6797G>A (p.Gly2266Asp)
|
rs771132013
|
0.00002
|
|
NM_032119.4(ADGRV1):c.787G>A (p.Val263Met)
|
rs727505056
|
0.00002
|
|
NM_032119.4(ADGRV1):c.8004C>T (p.Asp2668=)
|
rs369591434
|
0.00002
|
|
NM_032119.4(ADGRV1):c.8308T>C (p.Phe2770Leu)
|
rs375272281
|
0.00002
|
|
NM_032119.4(ADGRV1):c.9291T>G (p.Ser3097Arg)
|
rs727505041
|
0.00002
|
|
NM_032119.4(ADGRV1):c.968T>C (p.Ile323Thr)
|
rs757910491
|
0.00002
|
|
NM_032383.5(HPS3):c.2625C>T (p.Ser875=)
|
rs200121725
|
0.00002
|
|
NM_032387.5(WNK4):c.1080G>T (p.Ala360=)
|
rs748879947
|
0.00002
|
|
NM_032409.3(PINK1):c.414G>A (p.Pro138=)
|
rs773637957
|
0.00002
|
|
NM_032409.3(PINK1):c.434C>T (p.Thr145Met)
|
rs45604240
|
0.00002
|
|
NM_032444.4(SLX4):c.4739+7G>A
|
rs748897456
|
0.00002
|
|
NM_032575.3(GLIS2):c.15C>T (p.Asp5=)
|
rs751898309
|
0.00002
|
|
NM_032603.5(LOXL3):c.314-3C>T
|
rs143795234
|
0.00002
|
|
NM_032861.4(SERAC1):c.1309-19T>G
|
rs372001660
|
0.00002
|
|
NM_032888.4(COL27A1):c.295G>A (p.Ala99Thr)
|
rs748194962
|
0.00002
|
|
NM_033056.4(PCDH15):c.4717C>G (p.Leu1573Val)
|
rs202010562
|
0.00002
|
|
NM_033100.4(CDHR1):c.833C>T (p.Pro278Leu)
|
rs543254581
|
0.00002
|
|
NM_033159.4(HYAL1):c.915C>T (p.His305=)
|
rs1290078379
|
0.00002
|
|
NM_033305.3(VPS13A):c.3075C>T (p.Ser1025=)
|
rs916979346
|
0.00002
|
|
NM_033305.3(VPS13A):c.7078G>A (p.Glu2360Lys)
|
rs370401336
|
0.00002
|
|
NM_033360.4(KRAS):c.249C>T (p.Ala83=)
|
rs751117590
|
0.00002
|
|
NM_033380.3(COL4A5):c.2295A>G (p.Pro765=)
|
rs141247183
|
0.00002
|
|
NM_033380.3(COL4A5):c.3493G>A (p.Glu1165Lys)
|
rs771538814
|
0.00002
|
|
NM_033641.4(COL4A6):c.2936A>G (p.Asn979Ser)
|
rs756303853
|
0.00002
|
|
NM_033641.4(COL4A6):c.4642G>A (p.Ala1548Thr)
|
rs766360534
|
0.00002
|
|
NM_052813.5(CARD9):c.1341C>T (p.Thr447=)
|
rs774391206
|
0.00002
|
|
NM_052845.4(MMAB):c.298C>T (p.Leu100=)
|
rs751553040
|
0.00002
|
|
NM_052845.4(MMAB):c.372C>T (p.Val124=)
|
rs371092213
|
0.00002
|
|
NM_052867.4(NALCN):c.249G>A (p.Thr83=)
|
rs145910377
|
0.00002
|
|
NM_052867.4(NALCN):c.3845C>T (p.Ser1282Leu)
|
rs763353781
|
0.00002
|
|
NM_053013.4(ENO3):c.555C>T (p.Gly185=)
|
rs757606682
|
0.00002
|
|
NM_053025.4(MYLK):c.1023T>G (p.Thr341=)
|
rs201619646
|
0.00002
|
|
NM_053025.4(MYLK):c.1359C>T (p.Pro453=)
|
rs200973568
|
0.00002
|
|
NM_053025.4(MYLK):c.5155C>T (p.Leu1719=)
|
rs1057523680
|
0.00002
|
|
NM_058195.4(CDKN2A):c.92C>G (p.Thr31Arg)
|
rs528789830
|
0.00002
|
|
NM_058216.3(RAD51C):c.106G>A (p.Glu36Lys)
|
rs773998134
|
0.00002
|
|
NM_058216.3(RAD51C):c.315A>G (p.Ser105=)
|
rs876660032
|
0.00002
|
|
NM_058216.3(RAD51C):c.705+10A>G
|
rs377586976
|
0.00002
|
|
NM_058216.3(RAD51C):c.746G>A (p.Arg249His)
|
rs730881925
|
0.00002
|
|
NM_058246.4(DNAJB6):c.885C>G (p.Leu295=)
|
rs758663546
|
0.00002
|
|
NM_078470.6(COX15):c.933C>G (p.Ile311Met)
|
rs556026559
|
0.00002
|
|
NM_080680.3(COL11A2):c.1380G>A (p.Gly460=)
|
rs373168555
|
0.00002
|
|
NM_080680.3(COL11A2):c.1714C>A (p.His572Asn)
|
rs751888761
|
0.00002
|
|
NM_080680.3(COL11A2):c.2637T>C (p.Pro879=)
|
rs199677738
|
0.00002
|
|
NM_080680.3(COL11A2):c.2848C>T (p.Pro950Ser)
|
rs768902062
|
0.00002
|
|
NM_080680.3(COL11A2):c.3529-3C>T
|
rs753183777
|
0.00002
|
|
NM_080680.3(COL11A2):c.3706C>T (p.Arg1236Cys)
|
rs751612997
|
0.00002
|
|
NM_080680.3(COL11A2):c.3959G>A (p.Arg1320Gln)
|
rs372143434
|
0.00002
|
|
NM_080680.3(COL11A2):c.4010C>T (p.Ala1337Val)
|
rs756855492
|
0.00002
|
|
NM_080680.3(COL11A2):c.4481C>T (p.Pro1494Leu)
|
rs758796613
|
0.00002
|
|
NM_080680.3(COL11A2):c.4544C>T (p.Ser1515Leu)
|
rs764154647
|
0.00002
|
|
NM_080680.3(COL11A2):c.5106G>A (p.Thr1702=)
|
rs752823488
|
0.00002
|
|
NM_080680.3(COL11A2):c.5170C>T (p.Arg1724Trp)
|
rs762351406
|
0.00002
|
|
NM_080680.3(COL11A2):c.5A>G (p.Glu2Gly)
|
rs568840295
|
0.00002
|
|
NM_080680.3(COL11A2):c.752A>T (p.Gln251Leu)
|
rs201399429
|
0.00002
|
|
NM_080680.3(COL11A2):c.844G>A (p.Val282Met)
|
rs146432857
|
0.00002
|
|
NM_080916.3(DGUOK):c.256-6C>T
|
rs568816337
|
0.00002
|
|
NM_130468.4(CHST14):c.941G>A (p.Arg314Gln)
|
rs556002453
|
0.00002
|
|
NM_130837.3(OPA1):c.1391G>A (p.Gly464Asp)
|
rs752296610
|
0.00002
|
|
NM_130837.3(OPA1):c.215A>C (p.Lys72Thr)
|
rs532878175
|
0.00002
|
|
NM_130837.3(OPA1):c.2959C>T (p.Arg987Cys)
|
rs145710079
|
0.00002
|
|
NM_130837.3(OPA1):c.305A>G (p.Tyr102Cys)
|
rs530896300
|
0.00002
|
|
NM_133259.4(LRPPRC):c.96C>T (p.Gly32=)
|
rs886056064
|
0.00002
|
|
NM_133433.4(NIPBL):c.126T>C (p.Phe42=)
|
rs727504046
|
0.00002
|
|
NM_133433.4(NIPBL):c.5762A>G (p.Asn1921Ser)
|
rs587783983
|
0.00002
|
|
NM_133642.5(LARGE1):c.1132-8C>T
|
rs748964975
|
0.00002
|
|
NM_133642.5(LARGE1):c.1320C>T (p.Asp440=)
|
rs772615481
|
0.00002
|
|
NM_138387.4(G6PC3):c.201C>T (p.Leu67=)
|
rs375273894
|
0.00002
|
|
NM_138691.3(TMC1):c.1070A>G (p.Asn357Ser)
|
rs397517834
|
0.00002
|
|
NM_138694.4(PKHD1):c.10155A>G (p.Ala3385=)
|
rs773270584
|
0.00002
|
|
NM_138694.4(PKHD1):c.10743C>T (p.Leu3581=)
|
rs770308751
|
0.00002
|
|
NM_138694.4(PKHD1):c.10968A>G (p.Glu3656=)
|
rs1303599332
|
0.00002
|
|
NM_138694.4(PKHD1):c.2265G>A (p.Pro755=)
|
rs375603741
|
0.00002
|
|
NM_138694.4(PKHD1):c.2291C>T (p.Thr764Ile)
|
rs190315828
|
0.00002
|
|
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln)
|
rs201753421
|
0.00002
|
|
NM_138694.4(PKHD1):c.5301T>C (p.Ala1767=)
|
rs886061618
|
0.00002
|
|
NM_138694.4(PKHD1):c.624T>C (p.His208=)
|
rs767511678
|
0.00002
|
|
NM_138694.4(PKHD1):c.8503G>A (p.Gly2835Arg)
|
rs771108371
|
0.00002
|
|
NM_138694.4(PKHD1):c.873C>T (p.Thr291=)
|
rs769773725
|
0.00002
|
|
NM_138711.6(PPARG):c.393T>C (p.Gly131=)
|
rs201126401
|
0.00002
|
|
NM_139058.3(ARX):c.1272G>A (p.Pro424=)
|
rs398124507
|
0.00002
|
|
NM_139058.3(ARX):c.300G>A (p.Ala100=)
|
rs797045294
|
0.00002
|
|
NM_139058.3(ARX):c.306G>T (p.Ala102=)
|
rs587783196
|
0.00002
|
|
NM_139319.3(SLC17A8):c.1578C>T (p.Asp526=)
|
rs141294063
|
0.00002
|
|
NM_144670.6(A2ML1):c.1438G>A (p.Asp480Asn)
|
rs368024371
|
0.00002
|
|
NM_144670.6(A2ML1):c.2176G>T (p.Asp726Tyr)
|
rs771684169
|
0.00002
|
|
NM_144670.6(A2ML1):c.3105A>G (p.Thr1035=)
|
rs201335448
|
0.00002
|
|
NM_144670.6(A2ML1):c.3503-3T>C
|
rs748270792
|
0.00002
|
|
NM_144670.6(A2ML1):c.3933+4A>G
|
rs779680238
|
0.00002
|
|
NM_144670.6(A2ML1):c.881C>T (p.Ala294Val)
|
rs775772721
|
0.00002
|
|
NM_144687.4(NLRP12):c.2120C>T (p.Ala707Val)
|
rs202169378
|
0.00002
|
|
NM_144687.4(NLRP12):c.2499C>A (p.Asp833Glu)
|
rs139956424
|
0.00002
|
|
NM_144687.4(NLRP12):c.2574A>G (p.Leu858=)
|
rs750552324
|
0.00002
|
|
NM_144687.4(NLRP12):c.538G>A (p.Gly180Ser)
|
rs563974183
|
0.00002
|
|
NM_144997.7(FLCN):c.1049G>A (p.Arg350Gln)
|
rs190786280
|
0.00002
|
|
NM_144997.7(FLCN):c.249+4A>G
|
rs753648691
|
0.00002
|
|
NM_145200.5(CABP4):c.531C>A (p.Ile177=)
|
rs754194692
|
0.00002
|
|
NM_152263.4(TPM3):c.378-13C>T
|
rs367548433
|
0.00002
|
|
NM_152383.5(DIS3L2):c.2207C>T (p.Ala736Val)
|
rs780625125
|
0.00002
|
|
NM_152383.5(DIS3L2):c.519C>T (p.Ser173=)
|
rs143680532
|
0.00002
|
|
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His)
|
rs771667880
|
0.00002
|
|
NM_152564.5(VPS13B):c.2583C>T (p.Cys861=)
|
rs199868590
|
0.00002
|
|
NM_152564.5(VPS13B):c.3813A>G (p.Thr1271=)
|
rs775071483
|
0.00002
|
|
NM_152564.5(VPS13B):c.3865A>G (p.Thr1289Ala)
|
rs752808333
|
0.00002
|
|
NM_152564.5(VPS13B):c.4908G>A (p.Arg1636=)
|
rs765924507
|
0.00002
|
|
NM_152564.5(VPS13B):c.672C>T (p.Tyr224=)
|
rs760171272
|
0.00002
|
|
NM_152564.5(VPS13B):c.7476A>G (p.Pro2492=)
|
rs913138802
|
0.00002
|
|
NM_152564.5(VPS13B):c.9573A>G (p.Ala3191=)
|
rs189680814
|
0.00002
|
|
NM_152564.5(VPS13B):c.9816G>A (p.Gln3272=)
|
rs1397608904
|
0.00002
|
|
NM_152564.5(VPS13B):c.9831G>A (p.Pro3277=)
|
rs775601813
|
0.00002
|
|
NM_152703.5(SAMD9L):c.2387T>G (p.Ile796Ser)
|
rs774643105
|
0.00002
|
|
NM_153240.5(NPHP3):c.1357C>T (p.Leu453=)
|
rs535110862
|
0.00002
|
|
NM_170606.3(KMT2C):c.10957C>T (p.Pro3653Ser)
|
rs771311951
|
0.00002
|
|
NM_170606.3(KMT2C):c.13789C>T (p.Arg4597Cys)
|
rs543734103
|
0.00002
|
|
NM_170606.3(KMT2C):c.4576G>T (p.Ala1526Ser)
|
rs534362919
|
0.00002
|
|
NM_170682.4(P2RX2):c.1054G>A (p.Val352Ile)
|
rs775460016
|
0.00002
|
|
NM_170707.4(LMNA):c.1047G>A (p.Arg349=)
|
rs147015659
|
0.00002
|
|
NM_170707.4(LMNA):c.1098G>A (p.Lys366=)
|
rs57901307
|
0.00002
|
|
NM_170707.4(LMNA):c.1185G>A (p.Ser395=)
|
rs397517890
|
0.00002
|
|
NM_170707.4(LMNA):c.1698+57G>A
|
rs557334569
|
0.00002
|
|
NM_170707.4(LMNA):c.294G>A (p.Glu98=)
|
rs886045363
|
0.00002
|
|
NM_170707.4(LMNA):c.867C>T (p.His289=)
|
rs780415585
|
0.00002
|
|
NM_172107.4(KCNQ2):c.1505C>T (p.Ala502Val)
|
rs375264483
|
0.00002
|
|
NM_172107.4(KCNQ2):c.1842C>T (p.Pro614=)
|
rs552807375
|
0.00002
|
|
NM_172107.4(KCNQ2):c.2316G>A (p.Pro772=)
|
rs587780367
|
0.00002
|
|
NM_172351.3(CD46):c.535G>C (p.Glu179Gln)
|
rs779174212
|
0.00002
|
|
NM_173354.5(SIK1):c.2034G>T (p.Gln678His)
|
rs775749558
|
0.00002
|
|
NM_173495.3(PTCHD1):c.2041G>A (p.Val681Ile)
|
rs150912089
|
0.00002
|
|
NM_173495.3(PTCHD1):c.491G>A (p.Arg164Gln)
|
rs908889815
|
0.00002
|
|
NM_174936.4(PCSK9):c.10G>A (p.Val4Ile)
|
rs186669805
|
0.00002
|
|
NM_174936.4(PCSK9):c.1733T>A (p.Val578Glu)
|
rs765583923
|
0.00002
|
|
NM_174936.4(PCSK9):c.2022C>T (p.Ala674=)
|
rs886046436
|
0.00002
|
|
NM_174936.4(PCSK9):c.616G>A (p.Glu206Lys)
|
rs753857795
|
0.00002
|
|
NM_177438.3(DICER1):c.184G>A (p.Val62Ile)
|
rs746671039
|
0.00002
|
|
NM_177438.3(DICER1):c.3334A>G (p.Asn1112Asp)
|
rs587778229
|
0.00002
|
|
NM_177438.3(DICER1):c.3728T>C (p.Leu1243Pro)
|
rs561584807
|
0.00002
|
|
NM_177438.3(DICER1):c.406G>C (p.Glu136Gln)
|
rs768445477
|
0.00002
|
|
NM_177438.3(DICER1):c.4199A>G (p.Asp1400Gly)
|
rs139536688
|
0.00002
|
|
NM_177438.3(DICER1):c.5516G>A (p.Arg1839Gln)
|
rs587778233
|
0.00002
|
|
NM_178012.5(TUBB2B):c.57+4G>A
|
rs767477213
|
0.00002
|
|
NM_178335.3(CCDC50):c.1006G>A (p.Val336Ile)
|
rs765375664
|
0.00002
|
|
NM_181332.3(NLGN4X):c.579C>T (p.Tyr193=)
|
rs398124366
|
0.00002
|
|
NM_181458.4(PAX3):c.572T>C (p.Ile191Thr)
|
rs199560470
|
0.00002
|
|
NM_181503.3(EXOSC8):c.13T>C (p.Phe5Leu)
|
rs200881798
|
0.00002
|
|
NM_182760.4(SUMF1):c.1014+12C>T
|
rs776947608
|
0.00002
|
|
NM_182914.3(SYNE2):c.10776A>G (p.Ile3592Met)
|
rs373340663
|
0.00002
|
|
NM_182914.3(SYNE2):c.12942G>A (p.Ala4314=)
|
rs762957203
|
0.00002
|
|
NM_182914.3(SYNE2):c.14791A>G (p.Lys4931Glu)
|
rs145031656
|
0.00002
|
|
NM_182914.3(SYNE2):c.15865G>A (p.Val5289Met)
|
rs181059522
|
0.00002
|
|
NM_182914.3(SYNE2):c.16760+6A>G
|
rs756707482
|
0.00002
|
|
NM_182914.3(SYNE2):c.17691A>G (p.Gln5897=)
|
rs971473774
|
0.00002
|
|
NM_182914.3(SYNE2):c.18660C>T (p.His6220=)
|
rs757875136
|
0.00002
|
|
NM_182914.3(SYNE2):c.19807G>A (p.Ala6603Thr)
|
rs143077670
|
0.00002
|
|
NM_182914.3(SYNE2):c.4846T>C (p.Phe1616Leu)
|
rs764521226
|
0.00002
|
|
NM_182914.3(SYNE2):c.6746G>A (p.Arg2249Gln)
|
rs764036360
|
0.00002
|
|
NM_182914.3(SYNE2):c.8386C>T (p.Leu2796Phe)
|
rs200570324
|
0.00002
|
|
NM_182914.3(SYNE2):c.8991G>A (p.Gln2997=)
|
rs773209564
|
0.00002
|
|
NM_182914.3(SYNE2):c.9778C>T (p.Arg3260Cys)
|
rs570116954
|
0.00002
|
|
NM_182961.4(SYNE1):c.11001C>T (p.Asp3667=)
|
rs750318922
|
0.00002
|
|
NM_182961.4(SYNE1):c.13209G>A (p.Ser4403=)
|
rs773593843
|
0.00002
|
|
NM_182961.4(SYNE1):c.13299C>T (p.His4433=)
|
rs763090658
|
0.00002
|
|
NM_182961.4(SYNE1):c.16553G>A (p.Arg5518Gln)
|
rs150604289
|
0.00002
|
|
NM_182961.4(SYNE1):c.18972+4T>C
|
rs774096623
|
0.00002
|
|
NM_182961.4(SYNE1):c.25119+3A>G
|
rs1057521423
|
0.00002
|
|
NM_182961.4(SYNE1):c.8562T>C (p.Asp2854=)
|
rs757737346
|
0.00002
|
|
NM_183050.4(BCKDHB):c.732C>T (p.Tyr244=)
|
rs537988425
|
0.00002
|
|
NM_194248.3(OTOF):c.3226T>C (p.Tyr1076His)
|
rs150782952
|
0.00002
|
|
NM_194248.3(OTOF):c.322A>G (p.Ile108Val)
|
rs727505189
|
0.00002
|
|
NM_194248.3(OTOF):c.55C>T (p.Arg19Trp)
|
rs727504985
|
0.00002
|
|
NM_198253.3(TERT):c.2187C>T (p.Ile729=)
|
rs200819224
|
0.00002
|
|
NM_198578.4(LRRK2):c.2070+9T>A
|
rs201389324
|
0.00002
|
|
NM_198578.4(LRRK2):c.6582T>C (p.Val2194=)
|
rs773085638
|
0.00002
|
|
NM_198578.4(LRRK2):c.839-4T>G
|
rs748213808
|
0.00002
|
|
NM_198904.4(GABRG2):c.759G>A (p.Lys253=)
|
rs202124575
|
0.00002
|
|
NM_198999.3(SLC26A5):c.636G>T (p.Gly212=)
|
rs770314412
|
0.00002
|
|
NM_199242.3(UNC13D):c.1890G>A (p.Ala630=)
|
rs753021453
|
0.00002
|
|
NM_201253.3(CRB1):c.867G>A (p.Thr289=)
|
rs147244321
|
0.00002
|
|
NM_201384.3(PLEC):c.10207C>T (p.Arg3403Trp)
|
rs542488020
|
0.00002
|
|
NM_201384.3(PLEC):c.1246G>A (p.Asp416Asn)
|
rs782674838
|
0.00002
|
|
NM_201384.3(PLEC):c.1872C>T (p.Ala624=)
|
rs782547448
|
0.00002
|
|
NM_201384.3(PLEC):c.3787G>A (p.Glu1263Lys)
|
rs377125427
|
0.00002
|
|
NM_201384.3(PLEC):c.7741C>T (p.Arg2581Trp)
|
rs782485083
|
0.00002
|
|
NM_201384.3(PLEC):c.825C>T (p.Asn275=)
|
rs113133985
|
0.00002
|
|
NM_206933.4(USH2A):c.10517C>T (p.Thr3506Met)
|
rs397517966
|
0.00002
|
|
NM_206933.4(USH2A):c.11124C>G (p.Pro3708=)
|
rs773828586
|
0.00002
|
|
NM_206933.4(USH2A):c.1789C>A (p.His597Asn)
|
rs201127450
|
0.00002
|
|
NM_206933.4(USH2A):c.3666G>A (p.Ala1222=)
|
rs764479854
|
0.00002
|
|
NM_206933.4(USH2A):c.4071G>A (p.Thr1357=)
|
rs745962568
|
0.00002
|
|
NM_206933.4(USH2A):c.792G>A (p.Glu264=)
|
rs886043440
|
0.00002
|
|
NM_206933.4(USH2A):c.8028G>A (p.Pro2676=)
|
rs766443785
|
0.00002
|
|
NM_206933.4(USH2A):c.9047G>A (p.Cys3016Tyr)
|
rs759365458
|
0.00002
|
|
NM_206937.2(LIG4):c.1252T>C (p.Leu418=)
|
rs147181971
|
0.00002
|
|
NM_206937.2(LIG4):c.1971T>C (p.Asn657=)
|
rs764483419
|
0.00002
|
|
NM_207122.2(EXT2):c.11C>T (p.Ser4Leu)
|
rs527624522
|
0.00002
|
|
NM_212482.4(FN1):c.2112A>G (p.Thr704=)
|
rs1326049626
|
0.00002
|
|
NM_213599.3(ANO5):c.53A>G (p.Asn18Ser)
|
rs1010958758
|
0.00002
|
|
NM_213655.5(WNK1):c.2233G>A (p.Ala745Thr)
|
rs763686798
|
0.00002
|
|
NM_000017.4(ACADS):c.473-9T>G
|
rs751507296
|
0.00001
|
|
NM_000018.4(ACADVL):c.1575C>A (p.Val525=)
|
rs745996278
|
0.00001
|
|
NM_000018.4(ACADVL):c.1599C>T (p.Gly533=)
|
rs779770406
|
0.00001
|
|
NM_000018.4(ACADVL):c.1827+10G>A
|
rs766755156
|
0.00001
|
|
NM_000018.4(ACADVL):c.201G>A (p.Lys67=)
|
rs753577095
|
0.00001
|
|
NM_000018.4(ACADVL):c.216C>T (p.Ser72=)
|
rs761492981
|
0.00001
|
|
NM_000018.4(ACADVL):c.278-8C>T
|
rs1178133251
|
0.00001
|
|
NM_000018.4(ACADVL):c.342+18G>A
|
rs372594520
|
0.00001
|
|
NM_000018.4(ACADVL):c.51C>T (p.Leu17=)
|
rs376733533
|
0.00001
|
|
NM_000018.4(ACADVL):c.62+20G>A
|
rs369163211
|
0.00001
|
|
NM_000018.4(ACADVL):c.63-18A>G
|
rs1481782237
|
0.00001
|
|
NM_000018.4(ACADVL):c.867G>T (p.Gly289=)
|
rs745557512
|
0.00001
|
|
NM_000018.4(ACADVL):c.879-16C>A
|
rs780626099
|
0.00001
|
|
NM_000018.4(ACADVL):c.969G>A (p.Leu323=)
|
rs749734276
|
0.00001
|
|
NM_000019.4(ACAT1):c.1191T>C (p.His397=)
|
rs1439617035
|
0.00001
|
|
NM_000019.4(ACAT1):c.1200T>C (p.His400=)
|
rs748749897
|
0.00001
|
|
NM_000019.4(ACAT1):c.138T>C (p.Ser46=)
|
rs763375578
|
0.00001
|
|
NM_000019.4(ACAT1):c.171C>A (p.Gly57=)
|
rs757128075
|
0.00001
|
|
NM_000019.4(ACAT1):c.378T>C (p.Cys126=)
|
rs536301499
|
0.00001
|
|
NM_000019.4(ACAT1):c.532T>C (p.Leu178=)
|
rs370063325
|
0.00001
|
|
NM_000020.3(ACVRL1):c.303G>A (p.Leu101=)
|
rs376417482
|
0.00001
|
|
NM_000022.4(ADA):c.479-9C>T
|
rs761848284
|
0.00001
|
|
NM_000022.4(ADA):c.672A>G (p.Val224=)
|
rs753855163
|
0.00001
|
|
NM_000022.4(ADA):c.679-8C>T
|
rs886056707
|
0.00001
|
|
NM_000022.4(ADA):c.941A>G (p.Asp314Gly)
|
rs547569818
|
0.00001
|
|
NM_000023.4(SGCA):c.354G>A (p.Gln118=)
|
rs772233387
|
0.00001
|
|
NM_000023.4(SGCA):c.591C>T (p.Tyr197=)
|
rs756137267
|
0.00001
|
|
NM_000026.4(ADSL):c.439A>G (p.Lys147Glu)
|
rs746180694
|
0.00001
|
|
NM_000026.4(ADSL):c.579G>C (p.Leu193=)
|
rs751928831
|
0.00001
|
|
NM_000027.4(AGA):c.657T>C (p.Ala219=)
|
rs886059261
|
0.00001
|
|
NM_000030.3(AGXT):c.1174C>T (p.Leu392=)
|
rs180177167
|
0.00001
|
|
NM_000030.3(AGXT):c.743C>T (p.Ala248Val)
|
rs372482918
|
0.00001
|
|
NM_000032.5(ALAS2):c.224C>T (p.Ser75Leu)
|
rs863223900
|
0.00001
|
|
NM_000033.4(ABCD1):c.1181C>T (p.Ala394Val)
|
rs1324874967
|
0.00001
|
|
NM_000033.4(ABCD1):c.1260C>A (p.His420Gln)
|
rs782066367
|
0.00001
|
|
NM_000033.4(ABCD1):c.1261G>A (p.Glu421Lys)
|
rs1255903649
|
0.00001
|
|
NM_000033.4(ABCD1):c.1369G>C (p.Val457Leu)
|
rs781866876
|
0.00001
|
|
NM_000033.4(ABCD1):c.1452C>G (p.Pro484=)
|
rs782546330
|
0.00001
|
|
NM_000033.4(ABCD1):c.1744G>A (p.Val582Ile)
|
rs76180859
|
0.00001
|
|
NM_000033.4(ABCD1):c.1893C>T (p.Cys631=)
|
rs1557055319
|
0.00001
|
|
NM_000033.4(ABCD1):c.692G>A (p.Arg231Gln)
|
rs782143050
|
0.00001
|
|
NM_000033.4(ABCD1):c.756C>A (p.Phe252Leu)
|
rs200849757
|
0.00001
|
|
NM_000033.4(ABCD1):c.809C>T (p.Ala270Val)
|
rs781970988
|
0.00001
|
|
NM_000035.4(ALDOB):c.1014G>A (p.Ala338=)
|
rs546735701
|
0.00001
|
|
NM_000035.4(ALDOB):c.243C>T (p.His81=)
|
rs182003715
|
0.00001
|
|
NM_000035.4(ALDOB):c.270G>A (p.Gln90=)
|
rs1176960115
|
0.00001
|
|
NM_000035.4(ALDOB):c.309C>T (p.Ile103=)
|
rs747019279
|
0.00001
|
|
NM_000035.4(ALDOB):c.538C>A (p.Gln180Lys)
|
rs574635615
|
0.00001
|
|
NM_000037.4(ANK1):c.237C>T (p.Asn79=)
|
rs372696694
|
0.00001
|
|
NM_000037.4(ANK1):c.711+13C>T
|
rs763737257
|
0.00001
|
|
NM_000038.6(APC):c.1096G>A (p.Asp366Asn)
|
rs199562537
|
0.00001
|
|
NM_000038.6(APC):c.1121G>A (p.Arg374Gln)
|
rs141582813
|
0.00001
|
|
NM_000038.6(APC):c.1291A>G (p.Met431Val)
|
rs730881235
|
0.00001
|
|
NM_000038.6(APC):c.1342C>G (p.Pro448Ala)
|
rs374195067
|
0.00001
|
|
NM_000038.6(APC):c.1409-17T>G
|
rs764042245
|
0.00001
|
|
NM_000038.6(APC):c.1487C>T (p.Thr496Ile)
|
rs1369979539
|
0.00001
|
|
NM_000038.6(APC):c.1580G>C (p.Arg527Thr)
|
rs1554081889
|
0.00001
|
|
NM_000038.6(APC):c.1596A>G (p.Gln532=)
|
rs1331131200
|
0.00001
|
|
NM_000038.6(APC):c.1626+4C>A
|
rs1202435147
|
0.00001
|
|
NM_000038.6(APC):c.1691G>A (p.Arg564Gln)
|
rs747418061
|
0.00001
|
|
NM_000038.6(APC):c.1722A>G (p.Glu574=)
|
rs786201277
|
0.00001
|
|
NM_000038.6(APC):c.1743+6T>C
|
rs766973462
|
0.00001
|
|
NM_000038.6(APC):c.1744-14C>A
|
rs761403505
|
0.00001
|
|
NM_000038.6(APC):c.1876A>G (p.Thr626Ala)
|
rs771748555
|
0.00001
|
|
NM_000038.6(APC):c.1895T>C (p.Ile632Thr)
|
rs587781360
|
0.00001
|
|
NM_000038.6(APC):c.2114G>A (p.Ser705Asn)
|
rs752874220
|
0.00001
|
|
NM_000038.6(APC):c.212G>A (p.Arg71His)
|
rs750503329
|
0.00001
|
|
NM_000038.6(APC):c.221A>C (p.Glu74Ala)
|
rs773347338
|
0.00001
|
|
NM_000038.6(APC):c.2414G>A (p.Arg805Gln)
|
rs200593940
|
0.00001
|
|
NM_000038.6(APC):c.2474A>G (p.Tyr825Cys)
|
rs186641437
|
0.00001
|
|
NM_000038.6(APC):c.251G>T (p.Gly84Val)
|
rs143145868
|
0.00001
|
|
NM_000038.6(APC):c.252A>G (p.Gly84=)
|
rs375051600
|
0.00001
|
|
NM_000038.6(APC):c.2566C>T (p.Arg856Cys)
|
rs566005215
|
0.00001
|
|
NM_000038.6(APC):c.2569G>A (p.Gly857Arg)
|
rs745692178
|
0.00001
|
|
NM_000038.6(APC):c.262C>T (p.Arg88Trp)
|
rs746592911
|
0.00001
|
|
NM_000038.6(APC):c.2642C>T (p.Ser881Phe)
|
rs535344579
|
0.00001
|
|
NM_000038.6(APC):c.2677G>A (p.Glu893Lys)
|
rs199740875
|
0.00001
|
|
NM_000038.6(APC):c.2733A>T (p.Glu911Asp)
|
rs770018276
|
0.00001
|
|
NM_000038.6(APC):c.275C>G (p.Ser92Cys)
|
rs769708176
|
0.00001
|
|
NM_000038.6(APC):c.2909G>A (p.Ser970Asn)
|
rs767473403
|
0.00001
|
|
NM_000038.6(APC):c.2958T>C (p.Tyr986=)
|
rs746581330
|
0.00001
|
|
NM_000038.6(APC):c.3161A>C (p.His1054Pro)
|
rs777538550
|
0.00001
|
|
NM_000038.6(APC):c.3242G>A (p.Ser1081Asn)
|
rs374380039
|
0.00001
|
|
NM_000038.6(APC):c.3313C>T (p.Arg1105Trp)
|
rs768454793
|
0.00001
|
|
NM_000038.6(APC):c.3314G>A (p.Arg1105Gln)
|
rs548176472
|
0.00001
|
|
NM_000038.6(APC):c.3323A>G (p.Asn1108Ser)
|
rs151286353
|
0.00001
|
|
NM_000038.6(APC):c.3377G>T (p.Ser1126Ile)
|
rs767339739
|
0.00001
|
|
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg)
|
rs149353082
|
0.00001
|
|
NM_000038.6(APC):c.3415A>C (p.Lys1139Gln)
|
rs201550951
|
0.00001
|
|
NM_000038.6(APC):c.3428A>G (p.Tyr1143Cys)
|
rs1419180532
|
0.00001
|
|
NM_000038.6(APC):c.3578A>G (p.Gln1193Arg)
|
rs1060503260
|
0.00001
|
|
NM_000038.6(APC):c.3605C>G (p.Ser1202Cys)
|
rs753375023
|
0.00001
|
|
NM_000038.6(APC):c.362G>T (p.Arg121Ile)
|
rs193049694
|
0.00001
|
|
NM_000038.6(APC):c.3653C>T (p.Thr1218Met)
|
rs377640390
|
0.00001
|
|
NM_000038.6(APC):c.365G>T (p.Gly122Val)
|
rs755660899
|
0.00001
|
|
NM_000038.6(APC):c.3760A>G (p.Ile1254Val)
|
rs769504783
|
0.00001
|
|
NM_000038.6(APC):c.3824G>C (p.Ser1275Thr)
|
rs587781637
|
0.00001
|
|
NM_000038.6(APC):c.3868A>G (p.Asn1290Asp)
|
rs752977559
|
0.00001
|
|
NM_000038.6(APC):c.3902C>T (p.Thr1301Ile)
|
rs781535021
|
0.00001
|
|
NM_000038.6(APC):c.3909A>G (p.Gln1303=)
|
rs746289994
|
0.00001
|
|
NM_000038.6(APC):c.3910A>G (p.Ile1304Val)
|
rs770157475
|
0.00001
|
|
NM_000038.6(APC):c.3959T>A (p.Val1320Glu)
|
rs760485028
|
0.00001
|
|
NM_000038.6(APC):c.3964G>A (p.Glu1322Lys)
|
rs752926571
|
0.00001
|
|
NM_000038.6(APC):c.4143A>C (p.Pro1381=)
|
rs778565823
|
0.00001
|
|
NM_000038.6(APC):c.4333A>G (p.Thr1445Ala)
|
rs587780597
|
0.00001
|
|
NM_000038.6(APC):c.4495G>C (p.Gly1499Arg)
|
rs756912930
|
0.00001
|
|
NM_000038.6(APC):c.4534G>A (p.Asp1512Asn)
|
rs778699501
|
0.00001
|
|
NM_000038.6(APC):c.468C>G (p.Asp156Glu)
|
rs752627126
|
0.00001
|
|
NM_000038.6(APC):c.4742C>G (p.Ser1581Cys)
|
rs377169217
|
0.00001
|
|
NM_000038.6(APC):c.4906G>T (p.Asp1636Tyr)
|
rs730882128
|
0.00001
|
|
NM_000038.6(APC):c.4919G>A (p.Arg1640Gln)
|
rs529480958
|
0.00001
|
|
NM_000038.6(APC):c.4963A>G (p.Thr1655Ala)
|
rs759441332
|
0.00001
|
|
NM_000038.6(APC):c.5017G>A (p.Glu1673Lys)
|
rs587779796
|
0.00001
|
|
NM_000038.6(APC):c.5105G>A (p.Gly1702Glu)
|
rs769273526
|
0.00001
|
|
NM_000038.6(APC):c.5257G>C (p.Ala1753Pro)
|
rs587781350
|
0.00001
|
|
NM_000038.6(APC):c.5264C>T (p.Ala1755Val)
|
rs771967537
|
0.00001
|
|
NM_000038.6(APC):c.5282A>C (p.Asn1761Thr)
|
rs752038930
|
0.00001
|
|
NM_000038.6(APC):c.5304G>A (p.Lys1768=)
|
rs863224285
|
0.00001
|
|
NM_000038.6(APC):c.5337A>G (p.Ile1779Met)
|
rs748063409
|
0.00001
|
|
NM_000038.6(APC):c.5372A>G (p.Lys1791Arg)
|
rs775740112
|
0.00001
|
|
NM_000038.6(APC):c.5422A>G (p.Asn1808Asp)
|
rs533762549
|
0.00001
|
|
NM_000038.6(APC):c.5430T>G (p.Asp1810Glu)
|
rs149828124
|
0.00001
|
|
NM_000038.6(APC):c.5611G>T (p.Asp1871Tyr)
|
rs538571038
|
0.00001
|
|
NM_000038.6(APC):c.5627G>T (p.Arg1876Met)
|
rs773201570
|
0.00001
|
|
NM_000038.6(APC):c.5712A>G (p.Gln1904=)
|
rs755851369
|
0.00001
|
|
NM_000038.6(APC):c.5737A>G (p.Ile1913Val)
|
rs1554086935
|
0.00001
|
|
NM_000038.6(APC):c.5794A>T (p.Thr1932Ser)
|
rs777604445
|
0.00001
|
|
NM_000038.6(APC):c.5952T>C (p.Asn1984=)
|
rs142019870
|
0.00001
|
|
NM_000038.6(APC):c.5981A>T (p.Asp1994Val)
|
rs774815653
|
0.00001
|
|
NM_000038.6(APC):c.6249A>G (p.Ile2083Met)
|
rs374625279
|
0.00001
|
|
NM_000038.6(APC):c.6256C>G (p.Pro2086Ala)
|
rs780667260
|
0.00001
|
|
NM_000038.6(APC):c.6403A>G (p.Ile2135Val)
|
rs757633174
|
0.00001
|
|
NM_000038.6(APC):c.6446A>C (p.His2149Pro)
|
rs749230730
|
0.00001
|
|
NM_000038.6(APC):c.6492C>T (p.Gly2164=)
|
rs765332758
|
0.00001
|
|
NM_000038.6(APC):c.6508C>T (p.Pro2170Ser)
|
rs1229142303
|
0.00001
|
|
NM_000038.6(APC):c.6554G>A (p.Ser2185Asn)
|
rs764255983
|
0.00001
|
|
NM_000038.6(APC):c.6624A>G (p.Glu2208=)
|
rs886059798
|
0.00001
|
|
NM_000038.6(APC):c.6658A>G (p.Asn2220Asp)
|
rs374464049
|
0.00001
|
|
NM_000038.6(APC):c.6691A>T (p.Ile2231Phe)
|
rs534228737
|
0.00001
|
|
NM_000038.6(APC):c.6736G>A (p.Val2246Ile)
|
rs1055180096
|
0.00001
|
|
NM_000038.6(APC):c.6887G>A (p.Ser2296Asn)
|
rs919611781
|
0.00001
|
|
NM_000038.6(APC):c.6965A>G (p.Gln2322Arg)
|
rs1057517549
|
0.00001
|
|
NM_000038.6(APC):c.7143A>C (p.Gln2381His)
|
rs756153152
|
0.00001
|
|
NM_000038.6(APC):c.7262C>T (p.Ser2421Leu)
|
rs536557651
|
0.00001
|
|
NM_000038.6(APC):c.7284A>G (p.Glu2428=)
|
rs876658194
|
0.00001
|
|
NM_000038.6(APC):c.7378G>C (p.Ala2460Pro)
|
rs771929461
|
0.00001
|
|
NM_000038.6(APC):c.7478T>C (p.Leu2493Pro)
|
rs769889352
|
0.00001
|
|
NM_000038.6(APC):c.749A>G (p.His250Arg)
|
rs774296531
|
0.00001
|
|
NM_000038.6(APC):c.7541C>G (p.Thr2514Ser)
|
rs747833393
|
0.00001
|
|
NM_000038.6(APC):c.7588C>T (p.Arg2530Trp)
|
rs730881265
|
0.00001
|
|
NM_000038.6(APC):c.759C>G (p.Gly253=)
|
rs746850663
|
0.00001
|
|
NM_000038.6(APC):c.764A>G (p.His255Arg)
|
rs530670052
|
0.00001
|
|
NM_000038.6(APC):c.7679G>A (p.Arg2560Gln)
|
rs759069096
|
0.00001
|
|
NM_000038.6(APC):c.7750G>A (p.Ala2584Thr)
|
rs763786323
|
0.00001
|
|
NM_000038.6(APC):c.775C>T (p.Arg259Trp)
|
rs762117133
|
0.00001
|
|
NM_000038.6(APC):c.7778A>G (p.Asn2593Ser)
|
rs367676584
|
0.00001
|
|
NM_000038.6(APC):c.7793C>A (p.Thr2598Asn)
|
rs747339588
|
0.00001
|
|
NM_000038.6(APC):c.7822G>A (p.Ala2608Thr)
|
rs878853471
|
0.00001
|
|
NM_000038.6(APC):c.800G>A (p.Gly267Glu)
|
rs747759906
|
0.00001
|
|
NM_000038.6(APC):c.8057T>C (p.Val2686Ala)
|
rs757901425
|
0.00001
|
|
NM_000038.6(APC):c.8100T>C (p.Asn2700=)
|
rs761326128
|
0.00001
|
|
NM_000038.6(APC):c.8412G>T (p.Gln2804His)
|
rs878853476
|
0.00001
|
|
NM_000038.6(APC):c.8447G>A (p.Arg2816Gln)
|
rs769704991
|
0.00001
|
|
NM_000038.6(APC):c.884G>T (p.Ser295Ile)
|
rs752996559
|
0.00001
|
|
NM_000038.6(APC):c.918T>G (p.Ser306Arg)
|
rs730881231
|
0.00001
|
|
NM_000038.6(APC):c.933+5C>A
|
rs573528468
|
0.00001
|
|
NM_000045.4(ARG1):c.305+7T>C
|
rs886061060
|
0.00001
|
|
NM_000046.5(ARSB):c.1224C>T (p.Asn408=)
|
rs762454192
|
0.00001
|
|
NM_000046.5(ARSB):c.723G>A (p.Val241=)
|
rs199858121
|
0.00001
|
|
NM_000048.4(ASL):c.1026G>C (p.Val342=)
|
rs768461888
|
0.00001
|
|
NM_000048.4(ASL):c.1230G>C (p.Leu410=)
|
rs1397223617
|
0.00001
|
|
NM_000048.4(ASL):c.474C>T (p.Tyr158=)
|
rs1361999742
|
0.00001
|
|
NM_000048.4(ASL):c.720C>T (p.Ala240=)
|
rs764072757
|
0.00001
|
|
NM_000049.4(ASPA):c.448C>T (p.Leu150=)
|
rs1597432362
|
0.00001
|
|
NM_000049.4(ASPA):c.637A>G (p.Lys213Glu)
|
rs528179434
|
0.00001
|
|
NM_000049.4(ASPA):c.807G>A (p.Thr269=)
|
rs759106494
|
0.00001
|
|
NM_000049.4(ASPA):c.867C>T (p.Tyr289=)
|
rs375736464
|
0.00001
|
|
NM_000051.4(ATM):c.1021G>A (p.Val341Ile)
|
rs200601781
|
0.00001
|
|
NM_000051.4(ATM):c.1138T>A (p.Tyr380Asn)
|
rs34083085
|
0.00001
|
|
NM_000051.4(ATM):c.1335A>G (p.Gln445=)
|
rs1385656085
|
0.00001
|
|
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)
|
rs202173660
|
0.00001
|
|
NM_000051.4(ATM):c.1634C>T (p.Ala545Val)
|
rs878853485
|
0.00001
|
|
NM_000051.4(ATM):c.1648A>G (p.Ile550Val)
|
rs202144949
|
0.00001
|
|
NM_000051.4(ATM):c.1695A>G (p.Glu565=)
|
rs780932013
|
0.00001
|
|
NM_000051.4(ATM):c.1748A>G (p.Tyr583Cys)
|
rs587780614
|
0.00001
|
|
NM_000051.4(ATM):c.185+10T>C
|
rs1555054317
|
0.00001
|
|
NM_000051.4(ATM):c.1960C>A (p.Gln654Lys)
|
rs528165789
|
0.00001
|
|
NM_000051.4(ATM):c.2074C>T (p.Arg692Cys)
|
rs765965513
|
0.00001
|
|
NM_000051.4(ATM):c.2124+6A>T
|
rs550998406
|
0.00001
|
|
NM_000051.4(ATM):c.2467-7C>T
|
rs768850329
|
0.00001
|
|
NM_000051.4(ATM):c.2598T>G (p.Val866=)
|
rs730881350
|
0.00001
|
|
NM_000051.4(ATM):c.2630G>C (p.Ser877Thr)
|
rs370269552
|
0.00001
|
|
NM_000051.4(ATM):c.2638+3A>G
|
rs876660552
|
0.00001
|
|
NM_000051.4(ATM):c.2639-3T>C
|
rs1410247657
|
0.00001
|
|
NM_000051.4(ATM):c.2748G>T (p.Val916=)
|
rs1050470790
|
0.00001
|
|
NM_000051.4(ATM):c.2839-10A>G
|
rs770032309
|
0.00001
|
|
NM_000051.4(ATM):c.2922-8T>A
|
rs545892367
|
0.00001
|
|
NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu)
|
rs149911447
|
0.00001
|
|
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys)
|
rs201780199
|
0.00001
|
|
NM_000051.4(ATM):c.3284+7G>C
|
rs371629629
|
0.00001
|
|
NM_000051.4(ATM):c.3299C>T (p.Thr1100Met)
|
rs189445371
|
0.00001
|
|
NM_000051.4(ATM):c.3478G>C (p.Val1160Leu)
|
rs567344545
|
0.00001
|
|
NM_000051.4(ATM):c.3577-7C>T
|
rs558667657
|
0.00001
|
|
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys)
|
rs183263185
|
0.00001
|
|
NM_000051.4(ATM):c.3964C>A (p.Leu1322Ile)
|
rs144535256
|
0.00001
|
|
NM_000051.4(ATM):c.3982T>C (p.Leu1328=)
|
rs876658204
|
0.00001
|
|
NM_000051.4(ATM):c.4109+4T>C
|
rs754706599
|
0.00001
|
|
NM_000051.4(ATM):c.4110-4T>C
|
rs777186156
|
0.00001
|
|
NM_000051.4(ATM):c.411C>T (p.Tyr137=)
|
rs756160533
|
0.00001
|
|
NM_000051.4(ATM):c.4237-8T>C
|
rs750427647
|
0.00001
|
|
NM_000051.4(ATM):c.4365T>A (p.Ser1455Arg)
|
rs527471560
|
0.00001
|
|
NM_000051.4(ATM):c.4436+10A>G
|
rs878853509
|
0.00001
|
|
NM_000051.4(ATM):c.4492T>C (p.Leu1498=)
|
rs748949478
|
0.00001
|
|
NM_000051.4(ATM):c.4611+9C>G
|
rs760704159
|
0.00001
|
|
NM_000051.4(ATM):c.4612-4T>G
|
rs569983068
|
0.00001
|
|
NM_000051.4(ATM):c.4666T>C (p.Tyr1556His)
|
rs587781320
|
0.00001
|
|
NM_000051.4(ATM):c.4703A>G (p.His1568Arg)
|
rs368830730
|
0.00001
|
|
NM_000051.4(ATM):c.4779A>G (p.Glu1593=)
|
rs587778076
|
0.00001
|
|
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn)
|
rs587782506
|
0.00001
|
|
NM_000051.4(ATM):c.4909+3G>A
|
rs778685122
|
0.00001
|
|
NM_000051.4(ATM):c.4910-16A>T
|
rs866500582
|
0.00001
|
|
NM_000051.4(ATM):c.4910-4C>T
|
rs786202493
|
0.00001
|
|
NM_000051.4(ATM):c.497-4T>A
|
rs876659621
|
0.00001
|
|
NM_000051.4(ATM):c.4977A>T (p.Ile1659=)
|
rs199888434
|
0.00001
|
|
NM_000051.4(ATM):c.5039C>T (p.Pro1680Leu)
|
rs587782153
|
0.00001
|
|
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr)
|
rs199836342
|
0.00001
|
|
NM_000051.4(ATM):c.5080G>A (p.Ala1694Thr)
|
rs756197350
|
0.00001
|
|
NM_000051.4(ATM):c.5177+3G>A
|
rs774216164
|
0.00001
|
|
NM_000051.4(ATM):c.5319+3C>A
|
rs371640963
|
0.00001
|
|
NM_000051.4(ATM):c.5320-10T>C
|
rs864622731
|
0.00001
|
|
NM_000051.4(ATM):c.5375T>C (p.Ile1792Thr)
|
rs776309355
|
0.00001
|
|
NM_000051.4(ATM):c.5417T>C (p.Ile1806Thr)
|
rs773546064
|
0.00001
|
|
NM_000051.4(ATM):c.5488A>G (p.Met1830Val)
|
rs587781622
|
0.00001
|
|
NM_000051.4(ATM):c.5524C>T (p.Leu1842Phe)
|
rs956546711
|
0.00001
|
|
NM_000051.4(ATM):c.5630T>C (p.Phe1877Ser)
|
rs202028401
|
0.00001
|
|
NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu)
|
rs758908522
|
0.00001
|
|
NM_000051.4(ATM):c.5674+6C>G
|
rs780204400
|
0.00001
|
|
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys)
|
rs56399311
|
0.00001
|
|
NM_000051.4(ATM):c.5892G>C (p.Lys1964Asn)
|
rs786202728
|
0.00001
|
|
NM_000051.4(ATM):c.591A>T (p.Gly197=)
|
rs587780630
|
0.00001
|
|
NM_000051.4(ATM):c.6095+5A>G
|
rs757328753
|
0.00001
|
|
NM_000051.4(ATM):c.6096-3T>C
|
rs748380897
|
0.00001
|
|
NM_000051.4(ATM):c.6277C>T (p.Pro2093Ser)
|
rs946942912
|
0.00001
|
|
NM_000051.4(ATM):c.6318T>C (p.Asn2106=)
|
rs864622730
|
0.00001
|
|
NM_000051.4(ATM):c.6348-3C>T
|
rs946541820
|
0.00001
|
|
NM_000051.4(ATM):c.6452+5T>A
|
rs533830556
|
0.00001
|
|
NM_000051.4(ATM):c.6536T>C (p.Ile2179Thr)
|
rs878853532
|
0.00001
|
|
NM_000051.4(ATM):c.6572+4T>C
|
rs587780636
|
0.00001
|
|
NM_000051.4(ATM):c.6778A>G (p.Ile2260Val)
|
rs1365474284
|
0.00001
|
|
NM_000051.4(ATM):c.69A>G (p.Arg23=)
|
rs876659304
|
0.00001
|
|
NM_000051.4(ATM):c.712A>G (p.Ile238Val)
|
rs754275014
|
0.00001
|
|
NM_000051.4(ATM):c.7308-10T>G
|
rs745319720
|
0.00001
|
|
NM_000051.4(ATM):c.7359T>G (p.Arg2453=)
|
rs786201541
|
0.00001
|
|
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser)
|
rs531617441
|
0.00001
|
|
NM_000051.4(ATM):c.7522G>A (p.Gly2508Arg)
|
rs754395517
|
0.00001
|
|
NM_000051.4(ATM):c.753G>A (p.Val251=)
|
rs876658806
|
0.00001
|
|
NM_000051.4(ATM):c.7542T>C (p.Tyr2514=)
|
rs777925486
|
0.00001
|
|
NM_000051.4(ATM):c.7566A>G (p.Gln2522=)
|
rs775621333
|
0.00001
|
|
NM_000051.4(ATM):c.76G>C (p.Glu26Gln)
|
rs730881361
|
0.00001
|
|
NM_000051.4(ATM):c.7788+7G>A
|
rs749610251
|
0.00001
|
|
NM_000051.4(ATM):c.8314G>A (p.Gly2772Arg)
|
rs1064794239
|
0.00001
|
|
NM_000051.4(ATM):c.8327T>C (p.Ile2776Thr)
|
rs746475628
|
0.00001
|
|
NM_000051.4(ATM):c.8530A>G (p.Ile2844Val)
|
rs756230327
|
0.00001
|
|
NM_000051.4(ATM):c.8584+6C>G
|
rs863224300
|
0.00001
|
|
NM_000051.4(ATM):c.858A>G (p.Gln286=)
|
rs145301478
|
0.00001
|
|
NM_000051.4(ATM):c.8850+4A>C
|
rs587782335
|
0.00001
|
|
NM_000051.4(ATM):c.8987+3G>A
|
rs56360226
|
0.00001
|
|
NM_000051.4(ATM):c.8988-7T>G
|
rs1487809821
|
0.00001
|
|
NM_000051.4(ATM):c.8993T>C (p.Ile2998Thr)
|
rs778670498
|
0.00001
|
|
NM_000051.4(ATM):c.9166G>T (p.Val3056Leu)
|
rs371767164
|
0.00001
|
|
NM_000051.4(ATM):c.94C>T (p.Arg32Cys)
|
rs148061139
|
0.00001
|
|
NM_000052.7(ATP7A):c.1327A>G (p.Thr443Ala)
|
rs1227094533
|
0.00001
|
|
NM_000052.7(ATP7A):c.1384C>G (p.Pro462Ala)
|
rs781964005
|
0.00001
|
|
NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe)
|
rs1331470313
|
0.00001
|
|
NM_000052.7(ATP7A):c.1574C>G (p.Ala525Gly)
|
rs368355216
|
0.00001
|
|
NM_000052.7(ATP7A):c.1907G>A (p.Arg636Gln)
|
rs1557234412
|
0.00001
|
|
NM_000052.7(ATP7A):c.1947-5A>G
|
rs1557234466
|
0.00001
|
|
NM_000052.7(ATP7A):c.2108G>A (p.Arg703His)
|
rs2234936
|
0.00001
|
|
NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys)
|
rs782006661
|
0.00001
|
|
NM_000052.7(ATP7A):c.2287A>G (p.Ile763Val)
|
rs2077837721
|
0.00001
|
|
NM_000052.7(ATP7A):c.3595G>A (p.Val1199Ile)
|
rs782026169
|
0.00001
|
|
NM_000052.7(ATP7A):c.368G>A (p.Arg123Lys)
|
rs782664232
|
0.00001
|
|
NM_000052.7(ATP7A):c.4414C>T (p.Arg1472Cys)
|
rs782062633
|
0.00001
|
|
NM_000052.7(ATP7A):c.4448A>C (p.Asp1483Ala)
|
rs782799150
|
0.00001
|
|
NM_000052.7(ATP7A):c.83A>T (p.Gln28Leu)
|
rs782146244
|
0.00001
|
|
NM_000053.4(ATP7B):c.1101C>T (p.Gly367=)
|
rs759359836
|
0.00001
|
|
NM_000053.4(ATP7B):c.1326G>T (p.Gly442=)
|
rs1371066375
|
0.00001
|
|
NM_000053.4(ATP7B):c.1694A>G (p.Asn565Ser)
|
rs778475094
|
0.00001
|
|
NM_000053.4(ATP7B):c.1830G>A (p.Pro610=)
|
rs375689672
|
0.00001
|
|
NM_000053.4(ATP7B):c.2029G>A (p.Glu677Lys)
|
rs2277447
|
0.00001
|
|
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=)
|
rs751202110
|
0.00001
|
|
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=)
|
rs372979339
|
0.00001
|
|
NM_000053.4(ATP7B):c.2436T>C (p.Asn812=)
|
rs533967323
|
0.00001
|
|
NM_000053.4(ATP7B):c.2463C>T (p.Pro821=)
|
rs755237462
|
0.00001
|
|
NM_000053.4(ATP7B):c.2622G>A (p.Ala874=)
|
rs896503662
|
0.00001
|
|
NM_000053.4(ATP7B):c.2712A>G (p.Glu904=)
|
rs146232015
|
0.00001
|
|
NM_000053.4(ATP7B):c.3114G>A (p.Arg1038=)
|
rs761888880
|
0.00001
|
|
NM_000053.4(ATP7B):c.3123G>C (p.Arg1041=)
|
rs1192564410
|
0.00001
|
|
NM_000053.4(ATP7B):c.3151C>T (p.Leu1051=)
|
rs534622837
|
0.00001
|
|
NM_000053.4(ATP7B):c.3498T>C (p.Ser1166=)
|
rs587783314
|
0.00001
|
|
NM_000053.4(ATP7B):c.3557-8C>T
|
rs765668065
|
0.00001
|
|
NM_000053.4(ATP7B):c.3625C>T (p.Leu1209=)
|
rs61957448
|
0.00001
|
|
NM_000053.4(ATP7B):c.363C>T (p.Phe121=)
|
rs370199412
|
0.00001
|
|
NM_000053.4(ATP7B):c.3700-7G>A
|
rs756742483
|
0.00001
|
|
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=)
|
rs375007352
|
0.00001
|
|
NM_000053.4(ATP7B):c.51+13C>T
|
rs770273498
|
0.00001
|
|
NM_000053.4(ATP7B):c.609C>T (p.Asp203=)
|
rs781140058
|
0.00001
|
|
NM_000057.4(BLM):c.1674A>T (p.Ile558=)
|
rs770573584
|
0.00001
|
|
NM_000057.4(BLM):c.1785A>T (p.Ser595=)
|
rs79871543
|
0.00001
|
|
NM_000057.4(BLM):c.1833A>G (p.Ser611=)
|
rs747181657
|
0.00001
|
|
NM_000057.4(BLM):c.2169A>G (p.Gln723=)
|
rs781635047
|
0.00001
|
|
NM_000057.4(BLM):c.2211G>C (p.Leu737=)
|
rs933356579
|
0.00001
|
|
NM_000057.4(BLM):c.2308-5C>T
|
rs957805754
|
0.00001
|
|
NM_000057.4(BLM):c.2490G>A (p.Thr830=)
|
rs765233032
|
0.00001
|
|
NM_000057.4(BLM):c.2555+8G>A
|
rs1388713132
|
0.00001
|
|
NM_000057.4(BLM):c.2661A>G (p.Pro887=)
|
rs753160480
|
0.00001
|
|
NM_000057.4(BLM):c.2662T>C (p.Tyr888His)
|
rs758696992
|
0.00001
|
|
NM_000057.4(BLM):c.2691C>T (p.Ser897=)
|
rs756155242
|
0.00001
|
|
NM_000057.4(BLM):c.3210+4A>G
|
rs776621429
|
0.00001
|
|
NM_000057.4(BLM):c.3267A>G (p.Gln1089=)
|
rs1396484162
|
0.00001
|
|
NM_000057.4(BLM):c.3585C>T (p.Ser1195=)
|
rs1023322113
|
0.00001
|
|
NM_000057.4(BLM):c.3609G>A (p.Ala1203=)
|
rs151114049
|
0.00001
|
|
NM_000057.4(BLM):c.3924A>T (p.Gly1308=)
|
rs1019687102
|
0.00001
|
|
NM_000057.4(BLM):c.3933C>T (p.Ala1311=)
|
rs756451802
|
0.00001
|
|
NM_000057.4(BLM):c.437A>T (p.Asp146Val)
|
rs902876126
|
0.00001
|
|
NM_000057.4(BLM):c.696C>A (p.Ser232Arg)
|
rs201845548
|
0.00001
|
|
NM_000057.4(BLM):c.888T>C (p.Tyr296=)
|
rs139277089
|
0.00001
|
|
NM_000059.4(BRCA2):c.-9T>C
|
rs276174802
|
0.00001
|
|
NM_000059.4(BRCA2):c.10024G>A (p.Glu3342Lys)
|
rs28897761
|
0.00001
|
|
NM_000059.4(BRCA2):c.1002T>G (p.His334Gln)
|
rs544942885
|
0.00001
|
|
NM_000059.4(BRCA2):c.1006G>A (p.Ala336Thr)
|
rs587782100
|
0.00001
|
|
NM_000059.4(BRCA2):c.10070C>T (p.Thr3357Ile)
|
rs80358388
|
0.00001
|
|
NM_000059.4(BRCA2):c.10076A>G (p.Glu3359Gly)
|
rs80358389
|
0.00001
|
|
NM_000059.4(BRCA2):c.10085T>C (p.Phe3362Ser)
|
rs756978580
|
0.00001
|
|
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala)
|
rs80358393
|
0.00001
|
|
NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter)
|
rs397507568
|
0.00001
|
|
NM_000059.4(BRCA2):c.1022G>A (p.Cys341Tyr)
|
rs80358403
|
0.00001
|
|
NM_000059.4(BRCA2):c.10238C>A (p.Thr3413Lys)
|
rs730881584
|
0.00001
|
|
NM_000059.4(BRCA2):c.10249T>C (p.Tyr3417His)
|
rs535952730
|
0.00001
|
|
NM_000059.4(BRCA2):c.1054T>C (p.Tyr352His)
|
rs542343726
|
0.00001
|
|
NM_000059.4(BRCA2):c.1094C>T (p.Pro365Leu)
|
rs730881578
|
0.00001
|
|
NM_000059.4(BRCA2):c.1097T>C (p.Leu366Ser)
|
rs886040345
|
0.00001
|
|
NM_000059.4(BRCA2):c.1124C>T (p.Pro375Leu)
|
rs80358409
|
0.00001
|
|
NM_000059.4(BRCA2):c.1127T>C (p.Phe376Ser)
|
rs80358410
|
0.00001
|
|
NM_000059.4(BRCA2):c.1131G>C (p.Glu377Asp)
|
rs777845659
|
0.00001
|
|
NM_000059.4(BRCA2):c.1142A>G (p.Asp381Gly)
|
rs769297468
|
0.00001
|
|
NM_000059.4(BRCA2):c.1144A>C (p.Lys382Gln)
|
rs371454630
|
0.00001
|
|
NM_000059.4(BRCA2):c.1159G>T (p.Val387Phe)
|
rs869320791
|
0.00001
|
|
NM_000059.4(BRCA2):c.116C>T (p.Ala39Val)
|
rs398122724
|
0.00001
|
|
NM_000059.4(BRCA2):c.1185G>T (p.Trp395Cys)
|
rs886039315
|
0.00001
|
|
NM_000059.4(BRCA2):c.1217C>G (p.Ala406Gly)
|
rs1005568368
|
0.00001
|
|
NM_000059.4(BRCA2):c.1225G>A (p.Glu409Lys)
|
rs80358416
|
0.00001
|
|
NM_000059.4(BRCA2):c.1244A>G (p.His415Arg)
|
rs80358417
|
0.00001
|
|
NM_000059.4(BRCA2):c.1259A>G (p.Asp420Gly)
|
rs786201654
|
0.00001
|
|
NM_000059.4(BRCA2):c.1279G>C (p.Asp427His)
|
rs147797288
|
0.00001
|
|
NM_000059.4(BRCA2):c.1315T>G (p.Phe439Val)
|
rs80358420
|
0.00001
|
|
NM_000059.4(BRCA2):c.1342C>T (p.Arg448Cys)
|
rs80358422
|
0.00001
|
|
NM_000059.4(BRCA2):c.1343G>A (p.Arg448His)
|
rs80358423
|
0.00001
|
|
NM_000059.4(BRCA2):c.1352G>A (p.Ser451Asn)
|
rs587782422
|
0.00001
|
|
NM_000059.4(BRCA2):c.1381G>A (p.Glu461Lys)
|
rs587782159
|
0.00001
|
|
NM_000059.4(BRCA2):c.1397A>G (p.Asn466Ser)
|
rs370692951
|
0.00001
|
|
NM_000059.4(BRCA2):c.1421T>C (p.Leu474Pro)
|
rs431825281
|
0.00001
|
|
NM_000059.4(BRCA2):c.1427C>G (p.Ser476Cys)
|
rs80358431
|
0.00001
|
|
NM_000059.4(BRCA2):c.1441A>G (p.Ile481Val)
|
rs760559435
|
0.00001
|
|
NM_000059.4(BRCA2):c.1462A>G (p.Ile488Val)
|
rs864622352
|
0.00001
|
|
NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys)
|
rs587782535
|
0.00001
|
|
NM_000059.4(BRCA2):c.1510T>C (p.Ser504Pro)
|
rs786203006
|
0.00001
|
|
NM_000059.4(BRCA2):c.1543A>G (p.Thr515Ala)
|
rs749469486
|
0.00001
|
|
NM_000059.4(BRCA2):c.1550A>G (p.Asn517Ser)
|
rs80358439
|
0.00001
|
|
NM_000059.4(BRCA2):c.1558T>G (p.Phe520Val)
|
rs80358441
|
0.00001
|
|
NM_000059.4(BRCA2):c.1574C>T (p.Thr525Ile)
|
rs397507271
|
0.00001
|
|
NM_000059.4(BRCA2):c.1583A>G (p.Asn528Ser)
|
rs1060502393
|
0.00001
|
|
NM_000059.4(BRCA2):c.1598C>T (p.Thr533Ile)
|
rs781763239
|
0.00001
|
|
NM_000059.4(BRCA2):c.1600G>A (p.Glu534Lys)
|
rs276174810
|
0.00001
|
|
NM_000059.4(BRCA2):c.1606T>A (p.Ser536Thr)
|
rs1227088794
|
0.00001
|
|
NM_000059.4(BRCA2):c.1624A>G (p.Ile542Val)
|
rs730881511
|
0.00001
|
|
NM_000059.4(BRCA2):c.1658T>C (p.Leu553Ser)
|
rs876659627
|
0.00001
|
|
NM_000059.4(BRCA2):c.1669T>A (p.Leu557Ile)
|
rs786202150
|
0.00001
|
|
NM_000059.4(BRCA2):c.1705C>A (p.Gln569Lys)
|
rs397507274
|
0.00001
|
|
NM_000059.4(BRCA2):c.1742C>T (p.Ser581Phe)
|
rs587778118
|
0.00001
|
|
NM_000059.4(BRCA2):c.1769T>G (p.Phe590Cys)
|
rs80358459
|
0.00001
|
|
NM_000059.4(BRCA2):c.1775A>G (p.Tyr592Cys)
|
rs772156559
|
0.00001
|
|
NM_000059.4(BRCA2):c.1780A>C (p.Ile594Leu)
|
rs431825287
|
0.00001
|
|
NM_000059.4(BRCA2):c.1780A>T (p.Ile594Leu)
|
rs431825287
|
0.00001
|
|
NM_000059.4(BRCA2):c.1794A>G (p.Thr598=)
|
rs1159099773
|
0.00001
|
|
NM_000059.4(BRCA2):c.1805G>T (p.Gly602Val)
|
rs398122732
|
0.00001
|
|
NM_000059.4(BRCA2):c.1832C>T (p.Ser611Leu)
|
rs80358474
|
0.00001
|
|
NM_000059.4(BRCA2):c.1865C>T (p.Ala622Val)
|
rs80358477
|
0.00001
|
|
NM_000059.4(BRCA2):c.1885C>T (p.Leu629Phe)
|
rs398122734
|
0.00001
|
|
NM_000059.4(BRCA2):c.1888A>G (p.Thr630Ala)
|
rs1335307553
|
0.00001
|
|
NM_000059.4(BRCA2):c.1949A>G (p.Asn650Ser)
|
rs773619645
|
0.00001
|
|
NM_000059.4(BRCA2):c.1955C>G (p.Ser652Cys)
|
rs1593895864
|
0.00001
|
|
NM_000059.4(BRCA2):c.1960G>A (p.Glu654Lys)
|
rs786203845
|
0.00001
|
|
NM_000059.4(BRCA2):c.1966A>G (p.Thr656Ala)
|
rs398122736
|
0.00001
|
|
NM_000059.4(BRCA2):c.1967C>T (p.Thr656Ile)
|
rs876660857
|
0.00001
|
|
NM_000059.4(BRCA2):c.1988T>C (p.Phe663Ser)
|
rs552526845
|
0.00001
|
|
NM_000059.4(BRCA2):c.2014A>G (p.Arg672Gly)
|
rs587781647
|
0.00001
|
|
NM_000059.4(BRCA2):c.2026T>C (p.Cys676Arg)
|
rs397507280
|
0.00001
|
|
NM_000059.4(BRCA2):c.2072C>T (p.Ala691Val)
|
rs868546240
|
0.00001
|
|
NM_000059.4(BRCA2):c.2078G>A (p.Cys693Tyr)
|
rs771226774
|
0.00001
|
|
NM_000059.4(BRCA2):c.2111C>T (p.Pro704Leu)
|
rs768323836
|
0.00001
|
|
NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr)
|
rs80358488
|
0.00001
|
|
NM_000059.4(BRCA2):c.2148G>C (p.Gln716His)
|
rs876659550
|
0.00001
|
|
NM_000059.4(BRCA2):c.2173A>G (p.Lys725Glu)
|
rs431825294
|
0.00001
|
|
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr)
|
rs431825296
|
0.00001
|
|
NM_000059.4(BRCA2):c.2225A>G (p.Gln742Arg)
|
rs1282599125
|
0.00001
|
|
NM_000059.4(BRCA2):c.2248G>C (p.Asp750His)
|
rs773125650
|
0.00001
|
|
NM_000059.4(BRCA2):c.2252C>T (p.Thr751Ile)
|
rs398122743
|
0.00001
|
|
NM_000059.4(BRCA2):c.2258T>C (p.Phe753Ser)
|
rs587782883
|
0.00001
|
|
NM_000059.4(BRCA2):c.2270A>G (p.Lys757Arg)
|
rs763035556
|
0.00001
|
|
NM_000059.4(BRCA2):c.2276T>C (p.Leu759Pro)
|
rs1555282592
|
0.00001
|
|
NM_000059.4(BRCA2):c.2287C>G (p.His763Asp)
|
rs863224585
|
0.00001
|
|
NM_000059.4(BRCA2):c.2290G>C (p.Glu764Gln)
|
rs587782158
|
0.00001
|
|
NM_000059.4(BRCA2):c.232C>T (p.Pro78Ser)
|
rs398122745
|
0.00001
|
|
NM_000059.4(BRCA2):c.2330A>G (p.Asp777Gly)
|
rs780489283
|
0.00001
|
|
NM_000059.4(BRCA2):c.2332G>A (p.Val778Ile)
|
rs587779360
|
0.00001
|
|
NM_000059.4(BRCA2):c.2348T>G (p.Val783Gly)
|
rs768143929
|
0.00001
|
|
NM_000059.4(BRCA2):c.2354T>C (p.Ile785Thr)
|
rs771599029
|
0.00001
|
|
NM_000059.4(BRCA2):c.2366A>G (p.Lys789Arg)
|
rs587782062
|
0.00001
|
|
NM_000059.4(BRCA2):c.2368G>A (p.Glu790Lys)
|
rs398122746
|
0.00001
|
|
NM_000059.4(BRCA2):c.2380A>G (p.Met794Val)
|
rs786203635
|
0.00001
|
|
NM_000059.4(BRCA2):c.2383T>G (p.Ser795Ala)
|
rs878853563
|
0.00001
|
|
NM_000059.4(BRCA2):c.2401A>G (p.Asn801Asp)
|
rs765279896
|
0.00001
|
|
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His)
|
rs56404215
|
0.00001
|
|
NM_000059.4(BRCA2):c.2428A>G (p.Thr810Ala)
|
rs80358508
|
0.00001
|
|
NM_000059.4(BRCA2):c.2443A>G (p.Met815Val)
|
rs786203814
|
0.00001
|
|
NM_000059.4(BRCA2):c.2444T>C (p.Met815Thr)
|
rs1303254121
|
0.00001
|
|
NM_000059.4(BRCA2):c.2451G>T (p.Lys817Asn)
|
rs767686668
|
0.00001
|
|
NM_000059.4(BRCA2):c.2452A>C (p.Asn818His)
|
rs750667529
|
0.00001
|
|
NM_000059.4(BRCA2):c.2461G>A (p.Val821Ile)
|
rs756411508
|
0.00001
|
|
NM_000059.4(BRCA2):c.2471T>C (p.Leu824Ser)
|
rs397507631
|
0.00001
|
|
NM_000059.4(BRCA2):c.2491G>A (p.Val831Ile)
|
rs397507287
|
0.00001
|
|
NM_000059.4(BRCA2):c.2507C>T (p.Pro836Leu)
|
rs397507288
|
0.00001
|
|
NM_000059.4(BRCA2):c.2524G>C (p.Val842Leu)
|
rs587782454
|
0.00001
|
|
NM_000059.4(BRCA2):c.2554A>C (p.Asn852His)
|
rs775531301
|
0.00001
|
|
NM_000059.4(BRCA2):c.2599A>G (p.Thr867Ala)
|
rs80358522
|
0.00001
|
|
NM_000059.4(BRCA2):c.2627A>G (p.Asn876Ser)
|
rs997313713
|
0.00001
|
|
NM_000059.4(BRCA2):c.2648T>C (p.Phe883Ser)
|
rs1555282770
|
0.00001
|
|
NM_000059.4(BRCA2):c.2698A>G (p.Asn900Asp)
|
rs55736268
|
0.00001
|
|
NM_000059.4(BRCA2):c.2729A>G (p.His910Arg)
|
rs760792501
|
0.00001
|
|
NM_000059.4(BRCA2):c.2755G>A (p.Glu919Lys)
|
rs431825298
|
0.00001
|
|
NM_000059.4(BRCA2):c.2771A>T (p.Asn924Ile)
|
rs80358530
|
0.00001
|
|
NM_000059.4(BRCA2):c.2795A>T (p.Asp932Val)
|
rs879255447
|
0.00001
|
|
NM_000059.4(BRCA2):c.2821G>A (p.Val941Met)
|
rs863224586
|
0.00001
|
|
NM_000059.4(BRCA2):c.2837A>G (p.Asp946Gly)
|
rs55972907
|
0.00001
|
|
NM_000059.4(BRCA2):c.2838T>G (p.Asp946Glu)
|
rs149753706
|
0.00001
|
|
NM_000059.4(BRCA2):c.2849T>A (p.Val950Asp)
|
rs80358535
|
0.00001
|
|
NM_000059.4(BRCA2):c.2878A>G (p.Lys960Glu)
|
rs876659267
|
0.00001
|
|
NM_000059.4(BRCA2):c.2881C>G (p.Gln961Glu)
|
rs80358538
|
0.00001
|
|
NM_000059.4(BRCA2):c.2908G>A (p.Asp970Asn)
|
rs397507295
|
0.00001
|
|
NM_000059.4(BRCA2):c.2915A>G (p.Lys972Arg)
|
rs1064794885
|
0.00001
|
|
NM_000059.4(BRCA2):c.2918C>T (p.Ser973Leu)
|
rs397507296
|
0.00001
|
|
NM_000059.4(BRCA2):c.2920G>A (p.Asp974Asn)
|
rs539613324
|
0.00001
|
|
NM_000059.4(BRCA2):c.2924T>A (p.Ile975Asn)
|
rs398122756
|
0.00001
|
|
NM_000059.4(BRCA2):c.2933A>G (p.Asn978Ser)
|
rs775890004
|
0.00001
|
|
NM_000059.4(BRCA2):c.2946A>G (p.Ile982Met)
|
rs80358541
|
0.00001
|
|
NM_000059.4(BRCA2):c.2980G>A (p.Ala994Thr)
|
rs587782223
|
0.00001
|
|
NM_000059.4(BRCA2):c.2981C>T (p.Ala994Val)
|
rs398122758
|
0.00001
|
|
NM_000059.4(BRCA2):c.3005A>C (p.Asn1002Thr)
|
rs730881518
|
0.00001
|
|
NM_000059.4(BRCA2):c.3007C>G (p.His1003Asp)
|
rs878853565
|
0.00001
|
|
NM_000059.4(BRCA2):c.3085A>G (p.Met1029Val)
|
rs80358553
|
0.00001
|
|
NM_000059.4(BRCA2):c.3088T>G (p.Phe1030Val)
|
rs80358554
|
0.00001
|
|
NM_000059.4(BRCA2):c.3090C>G (p.Phe1030Leu)
|
rs756152752
|
0.00001
|
|
NM_000059.4(BRCA2):c.3098A>T (p.Asp1033Val)
|
rs141702094
|
0.00001
|
|
NM_000059.4(BRCA2):c.3100A>G (p.Ile1034Val)
|
rs755227053
|
0.00001
|
|
NM_000059.4(BRCA2):c.3101T>C (p.Ile1034Thr)
|
rs545974734
|
0.00001
|
|
NM_000059.4(BRCA2):c.3127G>T (p.Ala1043Ser)
|
rs1455903281
|
0.00001
|
|
NM_000059.4(BRCA2):c.316+18G>A
|
rs760439858
|
0.00001
|
|
NM_000059.4(BRCA2):c.317-10A>G
|
rs81002824
|
0.00001
|
|
NM_000059.4(BRCA2):c.3182A>G (p.Lys1061Arg)
|
rs776099423
|
0.00001
|
|
NM_000059.4(BRCA2):c.3188A>G (p.Gln1063Arg)
|
rs775030825
|
0.00001
|
|
NM_000059.4(BRCA2):c.3194T>C (p.Ile1065Thr)
|
rs431825303
|
0.00001
|
|
NM_000059.4(BRCA2):c.3206C>T (p.Ser1069Phe)
|
rs80358563
|
0.00001
|
|
NM_000059.4(BRCA2):c.3211C>T (p.His1071Tyr)
|
rs80358564
|
0.00001
|
|
NM_000059.4(BRCA2):c.3220A>T (p.Ser1074Cys)
|
rs145605603
|
0.00001
|
|
NM_000059.4(BRCA2):c.3227T>C (p.Val1076Ala)
|
rs1060502498
|
0.00001
|
|
NM_000059.4(BRCA2):c.3238G>C (p.Asp1080His)
|
rs1064794159
|
0.00001
|
|
NM_000059.4(BRCA2):c.3245A>G (p.Lys1082Arg)
|
rs80358569
|
0.00001
|
|
NM_000059.4(BRCA2):c.3251G>A (p.Ser1084Asn)
|
rs543748012
|
0.00001
|
|
NM_000059.4(BRCA2):c.3259A>T (p.Thr1087Ser)
|
rs775142613
|
0.00001
|
|
NM_000059.4(BRCA2):c.3326C>T (p.Ala1109Val)
|
rs41293479
|
0.00001
|
|
NM_000059.4(BRCA2):c.3330A>C (p.Glu1110Asp)
|
rs369294255
|
0.00001
|
|
NM_000059.4(BRCA2):c.3340C>T (p.Leu1114Phe)
|
rs1468014859
|
0.00001
|
|
NM_000059.4(BRCA2):c.3344C>G (p.Ser1115Cys)
|
rs879255448
|
0.00001
|
|
NM_000059.4(BRCA2):c.3350T>C (p.Ile1117Thr)
|
rs558973276
|
0.00001
|
|
NM_000059.4(BRCA2):c.3395A>G (p.Lys1132Arg)
|
rs80358582
|
0.00001
|
|
NM_000059.4(BRCA2):c.3401G>C (p.Ser1134Thr)
|
rs398122764
|
0.00001
|
|
NM_000059.4(BRCA2):c.3407T>C (p.Ile1136Thr)
|
rs398122765
|
0.00001
|
|
NM_000059.4(BRCA2):c.3414G>C (p.Gln1138His)
|
rs398122766
|
0.00001
|
|
NM_000059.4(BRCA2):c.3419G>C (p.Ser1140Thr)
|
rs80358585
|
0.00001
|
|
NM_000059.4(BRCA2):c.3427G>A (p.Glu1143Lys)
|
rs1316176181
|
0.00001
|
|
NM_000059.4(BRCA2):c.3431T>G (p.Val1144Gly)
|
rs80358587
|
0.00001
|
|
NM_000059.4(BRCA2):c.343A>G (p.Lys115Glu)
|
rs56242644
|
0.00001
|
|
NM_000059.4(BRCA2):c.3451A>G (p.Ile1151Val)
|
rs80358591
|
0.00001
|
|
NM_000059.4(BRCA2):c.3453C>G (p.Ile1151Met)
|
rs80358592
|
0.00001
|
|
NM_000059.4(BRCA2):c.3463A>G (p.Thr1155Ala)
|
rs1555283257
|
0.00001
|
|
NM_000059.4(BRCA2):c.3482A>G (p.Asp1161Gly)
|
rs1060502458
|
0.00001
|
|
NM_000059.4(BRCA2):c.3509C>T (p.Ala1170Val)
|
rs80358599
|
0.00001
|
|
NM_000059.4(BRCA2):c.3517A>T (p.Ile1173Phe)
|
rs431825308
|
0.00001
|
|
NM_000059.4(BRCA2):c.3526G>A (p.Val1176Ile)
|
rs80358602
|
0.00001
|
|
NM_000059.4(BRCA2):c.3562A>G (p.Ile1188Val)
|
rs202230438
|
0.00001
|
|
NM_000059.4(BRCA2):c.3628G>A (p.Asp1210Asn)
|
rs774392592
|
0.00001
|
|
NM_000059.4(BRCA2):c.3629A>T (p.Asp1210Val)
|
rs397507311
|
0.00001
|
|
NM_000059.4(BRCA2):c.3635A>T (p.Asn1212Ile)
|
rs80358609
|
0.00001
|
|
NM_000059.4(BRCA2):c.3639A>T (p.Glu1213Asp)
|
rs1303026901
|
0.00001
|
|
NM_000059.4(BRCA2):c.3640G>A (p.Val1214Met)
|
rs1015087797
|
0.00001
|
|
NM_000059.4(BRCA2):c.3643G>A (p.Gly1215Arg)
|
rs1366773950
|
0.00001
|
|
NM_000059.4(BRCA2):c.3644G>A (p.Gly1215Glu)
|
rs773442698
|
0.00001
|
|
NM_000059.4(BRCA2):c.3650G>A (p.Arg1217Lys)
|
rs1306577496
|
0.00001
|
|
NM_000059.4(BRCA2):c.3661T>C (p.Ser1221Pro)
|
rs80358611
|
0.00001
|
|
NM_000059.4(BRCA2):c.3667C>T (p.His1223Tyr)
|
rs786203756
|
0.00001
|
|
NM_000059.4(BRCA2):c.3671G>T (p.Gly1224Val)
|
rs587782670
|
0.00001
|
|
NM_000059.4(BRCA2):c.3672C>T (p.Gly1224=)
|
rs587780650
|
0.00001
|
|
NM_000059.4(BRCA2):c.3709G>C (p.Ala1237Pro)
|
rs398122770
|
0.00001
|
|
NM_000059.4(BRCA2):c.3731T>C (p.Ile1244Thr)
|
rs730881526
|
0.00001
|
|
NM_000059.4(BRCA2):c.375T>A (p.Asp125Glu)
|
rs80358616
|
0.00001
|
|
NM_000059.4(BRCA2):c.3764T>G (p.Val1255Gly)
|
rs1593900450
|
0.00001
|
|
NM_000059.4(BRCA2):c.3767A>C (p.His1256Pro)
|
rs80358618
|
0.00001
|
|
NM_000059.4(BRCA2):c.3776G>A (p.Ser1259Asn)
|
rs762488820
|
0.00001
|
|
NM_000059.4(BRCA2):c.3802T>A (p.Ser1268Thr)
|
rs751092504
|
0.00001
|
|
NM_000059.4(BRCA2):c.3814A>G (p.Met1272Val)
|
rs80358624
|
0.00001
|
|
NM_000059.4(BRCA2):c.3852T>G (p.Ser1284Arg)
|
rs777895333
|
0.00001
|
|
NM_000059.4(BRCA2):c.3854A>G (p.Glu1285Gly)
|
rs747103920
|
0.00001
|
|
NM_000059.4(BRCA2):c.3865A>G (p.Lys1289Glu)
|
rs786201943
|
0.00001
|
|
NM_000059.4(BRCA2):c.3880T>C (p.Leu1294=)
|
rs786201236
|
0.00001
|
|
NM_000059.4(BRCA2):c.3886A>G (p.Asn1296Asp)
|
rs1427687544
|
0.00001
|
|
NM_000059.4(BRCA2):c.3893T>C (p.Ile1298Thr)
|
rs80358633
|
0.00001
|
|
NM_000059.4(BRCA2):c.3901A>T (p.Thr1301Ser)
|
rs779899032
|
0.00001
|
|
NM_000059.4(BRCA2):c.3904A>G (p.Thr1302Ala)
|
rs543339423
|
0.00001
|
|
NM_000059.4(BRCA2):c.3905C>T (p.Thr1302Ile)
|
rs80358634
|
0.00001
|
|
NM_000059.4(BRCA2):c.3966C>G (p.Asn1322Lys)
|
rs80358647
|
0.00001
|
|
NM_000059.4(BRCA2):c.4023A>C (p.Ser1341=)
|
rs276174840
|
0.00001
|
|
NM_000059.4(BRCA2):c.4067T>C (p.Leu1356Ser)
|
rs876660967
|
0.00001
|
|
NM_000059.4(BRCA2):c.4088A>G (p.Asn1363Ser)
|
rs1165204072
|
0.00001
|
|
NM_000059.4(BRCA2):c.4105T>C (p.Ser1369Pro)
|
rs138567364
|
0.00001
|
|
NM_000059.4(BRCA2):c.4159T>A (p.Leu1387Ile)
|
rs431825317
|
0.00001
|
|
NM_000059.4(BRCA2):c.4183G>T (p.Ala1395Ser)
|
rs431825318
|
0.00001
|
|
NM_000059.4(BRCA2):c.4223A>G (p.Gln1408Arg)
|
rs762778002
|
0.00001
|
|
NM_000059.4(BRCA2):c.4244A>G (p.Glu1415Gly)
|
rs1060502399
|
0.00001
|
|
NM_000059.4(BRCA2):c.4271C>G (p.Ser1424Cys)
|
rs80358664
|
0.00001
|
|
NM_000059.4(BRCA2):c.4277C>T (p.Thr1426Ile)
|
rs748591104
|
0.00001
|
|
NM_000059.4(BRCA2):c.4279T>A (p.Phe1427Ile)
|
rs730881531
|
0.00001
|
|
NM_000059.4(BRCA2):c.428C>G (p.Pro143Arg)
|
rs587782795
|
0.00001
|
|
NM_000059.4(BRCA2):c.4296T>G (p.Ser1432Arg)
|
rs1064793065
|
0.00001
|
|
NM_000059.4(BRCA2):c.4315G>A (p.Ala1439Thr)
|
rs80358666
|
0.00001
|
|
NM_000059.4(BRCA2):c.4316C>A (p.Ala1439Asp)
|
rs80358667
|
0.00001
|
|
NM_000059.4(BRCA2):c.4318A>G (p.Lys1440Glu)
|
rs80358668
|
0.00001
|
|
NM_000059.4(BRCA2):c.4319A>G (p.Lys1440Arg)
|
rs80358669
|
0.00001
|
|
NM_000059.4(BRCA2):c.4344T>G (p.Asn1448Lys)
|
rs1064793724
|
0.00001
|
|
NM_000059.4(BRCA2):c.4372C>T (p.His1458Tyr)
|
rs80358672
|
0.00001
|
|
NM_000059.4(BRCA2):c.4376A>G (p.Asn1459Ser)
|
rs117187202
|
0.00001
|
|
NM_000059.4(BRCA2):c.4388A>G (p.Asn1463Ser)
|
rs1305070555
|
0.00001
|
|
NM_000059.4(BRCA2):c.4399C>T (p.His1467Tyr)
|
rs1064793495
|
0.00001
|
|
NM_000059.4(BRCA2):c.441A>G (p.Gln147=)
|
rs80358676
|
0.00001
|
|
NM_000059.4(BRCA2):c.442T>C (p.Cys148Arg)
|
rs80358677
|
0.00001
|
|
NM_000059.4(BRCA2):c.4433T>C (p.Leu1478Pro)
|
rs1382689372
|
0.00001
|
|
NM_000059.4(BRCA2):c.4436G>C (p.Ser1479Thr)
|
rs80358678
|
0.00001
|
|
NM_000059.4(BRCA2):c.4445A>G (p.Glu1482Gly)
|
rs775234705
|
0.00001
|
|
NM_000059.4(BRCA2):c.4450G>A (p.Asp1484Asn)
|
rs876660070
|
0.00001
|
|
NM_000059.4(BRCA2):c.4478A>G (p.Glu1493Gly)
|
rs80358679
|
0.00001
|
|
NM_000059.4(BRCA2):c.4480A>G (p.Ser1494Gly)
|
rs1593902515
|
0.00001
|
|
NM_000059.4(BRCA2):c.4498G>A (p.Gly1500Arg)
|
rs765328255
|
0.00001
|
|
NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys)
|
rs80358684
|
0.00001
|
|
NM_000059.4(BRCA2):c.4535G>A (p.Arg1512His)
|
rs80358685
|
0.00001
|
|
NM_000059.4(BRCA2):c.4556C>G (p.Pro1519Arg)
|
rs587781534
|
0.00001
|
|
NM_000059.4(BRCA2):c.4562T>C (p.Leu1521Pro)
|
rs1200198184
|
0.00001
|
|
NM_000059.4(BRCA2):c.4567G>C (p.Gly1523Arg)
|
rs587781418
|
0.00001
|
|
NM_000059.4(BRCA2):c.4574A>C (p.His1525Pro)
|
rs397507336
|
0.00001
|
|
NM_000059.4(BRCA2):c.4599A>C (p.Lys1533Asn)
|
rs80358694
|
0.00001
|
|
NM_000059.4(BRCA2):c.4652A>G (p.Gln1551Arg)
|
rs1391223943
|
0.00001
|
|
NM_000059.4(BRCA2):c.4662T>G (p.Ser1554Arg)
|
rs276174845
|
0.00001
|
|
NM_000059.4(BRCA2):c.4672A>C (p.Ser1558Arg)
|
rs587782822
|
0.00001
|
|
NM_000059.4(BRCA2):c.4685A>C (p.Gln1562Pro)
|
rs544688816
|
0.00001
|
|
NM_000059.4(BRCA2):c.4695G>T (p.Lys1565Asn)
|
rs587782522
|
0.00001
|
|
NM_000059.4(BRCA2):c.4703A>G (p.Lys1568Arg)
|
rs80358699
|
0.00001
|
|
NM_000059.4(BRCA2):c.4709G>A (p.Arg1570Lys)
|
rs1060502472
|
0.00001
|
|
NM_000059.4(BRCA2):c.4713G>C (p.Glu1571Asp)
|
rs431825322
|
0.00001
|
|
NM_000059.4(BRCA2):c.4741G>A (p.Glu1581Lys)
|
rs368952892
|
0.00001
|
|
NM_000059.4(BRCA2):c.4747A>G (p.Ile1583Val)
|
rs56072130
|
0.00001
|
|
NM_000059.4(BRCA2):c.4747A>T (p.Ile1583Phe)
|
rs56072130
|
0.00001
|
|
NM_000059.4(BRCA2):c.4759G>A (p.Ala1587Thr)
|
rs56137239
|
0.00001
|
|
NM_000059.4(BRCA2):c.4772G>A (p.Cys1591Tyr)
|
rs1555283933
|
0.00001
|
|
NM_000059.4(BRCA2):c.4784A>C (p.Gln1595Pro)
|
rs786201184
|
0.00001
|
|
NM_000059.4(BRCA2):c.4789T>G (p.Ser1597Ala)
|
rs1555283935
|
0.00001
|
|
NM_000059.4(BRCA2):c.4796A>G (p.Asn1599Ser)
|
rs149759218
|
0.00001
|
|
NM_000059.4(BRCA2):c.4830G>A (p.Val1610=)
|
rs80359789
|
0.00001
|
|
NM_000059.4(BRCA2):c.4835C>T (p.Pro1612Leu)
|
rs764834875
|
0.00001
|
|
NM_000059.4(BRCA2):c.4838C>T (p.Pro1613Leu)
|
rs1360725610
|
0.00001
|
|
NM_000059.4(BRCA2):c.4850G>A (p.Ser1617Asn)
|
rs397507341
|
0.00001
|
|
NM_000059.4(BRCA2):c.4861T>G (p.Cys1621Gly)
|
rs1060502419
|
0.00001
|
|
NM_000059.4(BRCA2):c.489T>G (p.Ser163Arg)
|
rs398122787
|
0.00001
|
|
NM_000059.4(BRCA2):c.4901T>C (p.Phe1634Ser)
|
rs80358715
|
0.00001
|
|
NM_000059.4(BRCA2):c.4910T>G (p.Val1637Gly)
|
rs397507343
|
0.00001
|
|
NM_000059.4(BRCA2):c.4913A>C (p.Lys1638Thr)
|
rs771425987
|
0.00001
|
|
NM_000059.4(BRCA2):c.4918C>T (p.His1640Tyr)
|
rs765892492
|
0.00001
|
|
NM_000059.4(BRCA2):c.4927G>A (p.Val1643Ile)
|
rs879254182
|
0.00001
|
|
NM_000059.4(BRCA2):c.4930G>C (p.Glu1644Gln)
|
rs1555283989
|
0.00001
|
|
NM_000059.4(BRCA2):c.4987G>C (p.Val1663Leu)
|
rs587781763
|
0.00001
|
|
NM_000059.4(BRCA2):c.5030G>T (p.Arg1677Ile)
|
rs375304428
|
0.00001
|
|
NM_000059.4(BRCA2):c.5035A>C (p.Thr1679Pro)
|
rs80358728
|
0.00001
|
|
NM_000059.4(BRCA2):c.5045G>A (p.Ser1682Asn)
|
rs41293493
|
0.00001
|
|
NM_000059.4(BRCA2):c.5065G>A (p.Ala1689Thr)
|
rs767200163
|
0.00001
|
|
NM_000059.4(BRCA2):c.5080A>G (p.Arg1694Gly)
|
rs200265692
|
0.00001
|
|
NM_000059.4(BRCA2):c.5081G>C (p.Arg1694Thr)
|
rs753721331
|
0.00001
|
|
NM_000059.4(BRCA2):c.5115A>G (p.Ile1705Met)
|
rs878853588
|
0.00001
|
|
NM_000059.4(BRCA2):c.5120C>T (p.Thr1707Ile)
|
rs786202354
|
0.00001
|
|
NM_000059.4(BRCA2):c.5153A>G (p.Asn1718Ser)
|
rs80358739
|
0.00001
|
|
NM_000059.4(BRCA2):c.516+17G>C
|
rs765435155
|
0.00001
|
|
NM_000059.4(BRCA2):c.5165G>T (p.Ser1722Ile)
|
rs773707172
|
0.00001
|
|
NM_000059.4(BRCA2):c.517-11T>C
|
rs81002828
|
0.00001
|
|
NM_000059.4(BRCA2):c.517-17A>G
|
rs1060504603
|
0.00001
|
|
NM_000059.4(BRCA2):c.5182G>A (p.Asp1728Asn)
|
rs80358744
|
0.00001
|
|
NM_000059.4(BRCA2):c.5186A>C (p.Lys1729Thr)
|
rs772860507
|
0.00001
|
|
NM_000059.4(BRCA2):c.5188A>T (p.Asn1730Tyr)
|
rs397507770
|
0.00001
|
|
NM_000059.4(BRCA2):c.5191C>A (p.His1731Asn)
|
rs80358745
|
0.00001
|
|
NM_000059.4(BRCA2):c.5200G>A (p.Glu1734Lys)
|
rs786202543
|
0.00001
|
|
NM_000059.4(BRCA2):c.5201A>T (p.Glu1734Val)
|
rs1200008651
|
0.00001
|
|
NM_000059.4(BRCA2):c.5207A>G (p.Gln1736Arg)
|
rs1183489363
|
0.00001
|
|
NM_000059.4(BRCA2):c.5212A>T (p.Thr1738Ser)
|
rs876658357
|
0.00001
|
|
NM_000059.4(BRCA2):c.521G>A (p.Arg174His)
|
rs80358747
|
0.00001
|
|
NM_000059.4(BRCA2):c.5225A>T (p.Asn1742Ile)
|
rs756463217
|
0.00001
|
|
NM_000059.4(BRCA2):c.5231G>T (p.Ser1744Ile)
|
rs587782060
|
0.00001
|
|
NM_000059.4(BRCA2):c.5245T>C (p.Tyr1749His)
|
rs876658731
|
0.00001
|
|
NM_000059.4(BRCA2):c.5249C>T (p.Ser1750Phe)
|
rs80358748
|
0.00001
|
|
NM_000059.4(BRCA2):c.5272A>G (p.Asn1758Asp)
|
rs80358750
|
0.00001
|
|
NM_000059.4(BRCA2):c.5278T>G (p.Ser1760Ala)
|
rs28897735
|
0.00001
|
|
NM_000059.4(BRCA2):c.5284T>G (p.Tyr1762Asp)
|
rs1192019733
|
0.00001
|
|
NM_000059.4(BRCA2):c.5321C>T (p.Pro1774Leu)
|
rs786203835
|
0.00001
|
|
NM_000059.4(BRCA2):c.5341G>A (p.Asp1781Asn)
|
rs183478654
|
0.00001
|
|
NM_000059.4(BRCA2):c.5344C>A (p.Gln1782Lys)
|
rs80358757
|
0.00001
|
|
NM_000059.4(BRCA2):c.5350A>C (p.Asn1784His)
|
rs1308950771
|
0.00001
|
|
NM_000059.4(BRCA2):c.5373A>G (p.Ile1791Met)
|
rs1060502406
|
0.00001
|
|
NM_000059.4(BRCA2):c.5378A>G (p.Asn1793Ser)
|
rs80358759
|
0.00001
|
|
NM_000059.4(BRCA2):c.5390C>G (p.Ala1797Gly)
|
rs80358760
|
0.00001
|
|
NM_000059.4(BRCA2):c.5396C>T (p.Ala1799Val)
|
rs770450108
|
0.00001
|
|
NM_000059.4(BRCA2):c.53G>A (p.Arg18His)
|
rs80358762
|
0.00001
|
|
NM_000059.4(BRCA2):c.5401C>T (p.Pro1801Ser)
|
rs2072528556
|
0.00001
|
|
NM_000059.4(BRCA2):c.5406A>C (p.Gln1802His)
|
rs139302211
|
0.00001
|
|
NM_000059.4(BRCA2):c.5427C>T (p.Cys1809=)
|
rs80359791
|
0.00001
|
|
NM_000059.4(BRCA2):c.5434G>A (p.Glu1812Lys)
|
rs80358767
|
0.00001
|
|
NM_000059.4(BRCA2):c.5450C>G (p.Ser1817Cys)
|
rs759741090
|
0.00001
|
|
NM_000059.4(BRCA2):c.5487G>T (p.Leu1829Phe)
|
rs779967765
|
0.00001
|
|
NM_000059.4(BRCA2):c.5500A>G (p.Ser1834Gly)
|
rs760602053
|
0.00001
|
|
NM_000059.4(BRCA2):c.5525C>T (p.Pro1842Leu)
|
rs1331207836
|
0.00001
|
|
NM_000059.4(BRCA2):c.5536A>G (p.Ile1846Val)
|
rs587782375
|
0.00001
|
|
NM_000059.4(BRCA2):c.5546G>A (p.Gly1849Asp)
|
rs764527357
|
0.00001
|
|
NM_000059.4(BRCA2):c.5553C>G (p.Ile1851Met)
|
rs573514896
|
0.00001
|
|
NM_000059.4(BRCA2):c.5578A>G (p.Lys1860Glu)
|
rs431825332
|
0.00001
|
|
NM_000059.4(BRCA2):c.5590G>A (p.Asp1864Asn)
|
rs587781536
|
0.00001
|
|
NM_000059.4(BRCA2):c.5624A>C (p.Lys1875Thr)
|
rs587782583
|
0.00001
|
|
NM_000059.4(BRCA2):c.5663A>G (p.Lys1888Arg)
|
rs80358791
|
0.00001
|
|
NM_000059.4(BRCA2):c.5672C>T (p.Ala1891Val)
|
rs397507360
|
0.00001
|
|
NM_000059.4(BRCA2):c.5693A>G (p.Asp1898Gly)
|
rs876658786
|
0.00001
|
|
NM_000059.4(BRCA2):c.5702A>T (p.Glu1901Val)
|
rs773600818
|
0.00001
|
|
NM_000059.4(BRCA2):c.5714A>G (p.His1905Arg)
|
rs80358796
|
0.00001
|
|
NM_000059.4(BRCA2):c.5719T>G (p.Ser1907Ala)
|
rs753445027
|
0.00001
|
|
NM_000059.4(BRCA2):c.5723T>C (p.Leu1908Pro)
|
rs80358797
|
0.00001
|
|
NM_000059.4(BRCA2):c.5729A>T (p.Asn1910Ile)
|
rs276174863
|
0.00001
|
|
NM_000059.4(BRCA2):c.5753A>G (p.His1918Arg)
|
rs80358804
|
0.00001
|
|
NM_000059.4(BRCA2):c.5770A>G (p.Ile1924Val)
|
rs779020831
|
0.00001
|
|
NM_000059.4(BRCA2):c.5770A>T (p.Ile1924Phe)
|
rs779020831
|
0.00001
|
|
NM_000059.4(BRCA2):c.5782G>A (p.Glu1928Lys)
|
rs56253082
|
0.00001
|
|
NM_000059.4(BRCA2):c.5784A>C (p.Glu1928Asp)
|
rs431825335
|
0.00001
|
|
NM_000059.4(BRCA2):c.5808G>A (p.Met1936Ile)
|
rs759138390
|
0.00001
|
|
NM_000059.4(BRCA2):c.5870T>C (p.Ile1957Thr)
|
rs587782320
|
0.00001
|
|
NM_000059.4(BRCA2):c.5882G>A (p.Ser1961Asn)
|
rs80358820
|
0.00001
|
|
NM_000059.4(BRCA2):c.5884A>G (p.Ile1962Val)
|
rs747406932
|
0.00001
|
|
NM_000059.4(BRCA2):c.5885T>C (p.Ile1962Thr)
|
rs1060502377
|
0.00001
|
|
NM_000059.4(BRCA2):c.5891A>G (p.Lys1964Arg)
|
rs80358821
|
0.00001
|
|
NM_000059.4(BRCA2):c.5903C>T (p.Ser1968Leu)
|
rs587782597
|
0.00001
|
|
NM_000059.4(BRCA2):c.5960A>G (p.Gln1987Arg)
|
rs1364714267
|
0.00001
|
|
NM_000059.4(BRCA2):c.5961G>T (p.Gln1987His)
|
rs387907575
|
0.00001
|
|
NM_000059.4(BRCA2):c.5962G>A (p.Val1988Ile)
|
rs28897739
|
0.00001
|
|
NM_000059.4(BRCA2):c.5970T>G (p.Asp1990Glu)
|
rs1064794160
|
0.00001
|
|
NM_000059.4(BRCA2):c.599C>T (p.Thr200Ile)
|
rs587781402
|
0.00001
|
|
NM_000059.4(BRCA2):c.6037A>G (p.Lys2013Glu)
|
rs80358840
|
0.00001
|
|
NM_000059.4(BRCA2):c.6097A>G (p.Ile2033Val)
|
rs772846629
|
0.00001
|
|
NM_000059.4(BRCA2):c.6106C>T (p.Pro2036Ser)
|
rs587782740
|
0.00001
|
|
NM_000059.4(BRCA2):c.6115T>A (p.Leu2039Ile)
|
rs370026879
|
0.00001
|
|
NM_000059.4(BRCA2):c.6117A>C (p.Leu2039Phe)
|
rs1566233950
|
0.00001
|
|
NM_000059.4(BRCA2):c.6118A>G (p.Ile2040Val)
|
rs80358850
|
0.00001
|
|
NM_000059.4(BRCA2):c.6121T>C (p.Ser2041Pro)
|
rs1160083526
|
0.00001
|
|
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val)
|
rs56191579
|
0.00001
|
|
NM_000059.4(BRCA2):c.6188G>A (p.Gly2063Glu)
|
rs397507364
|
0.00001
|
|
NM_000059.4(BRCA2):c.6212G>C (p.Ser2071Thr)
|
rs80358861
|
0.00001
|
|
NM_000059.4(BRCA2):c.6231G>C (p.Lys2077Asn)
|
rs541826447
|
0.00001
|
|
NM_000059.4(BRCA2):c.6233G>T (p.Gly2078Val)
|
rs769883812
|
0.00001
|
|
NM_000059.4(BRCA2):c.6236T>C (p.Val2079Ala)
|
rs864622757
|
0.00001
|
|
NM_000059.4(BRCA2):c.6258C>G (p.Ile2086Met)
|
rs1060504611
|
0.00001
|
|
NM_000059.4(BRCA2):c.6263C>T (p.Thr2088Ile)
|
rs767567428
|
0.00001
|
|
NM_000059.4(BRCA2):c.6268C>T (p.His2090Tyr)
|
rs1405631299
|
0.00001
|
|
NM_000059.4(BRCA2):c.6271A>C (p.Ser2091Arg)
|
rs398122550
|
0.00001
|
|
NM_000059.4(BRCA2):c.6281A>G (p.Tyr2094Cys)
|
rs397507838
|
0.00001
|
|
NM_000059.4(BRCA2):c.6287C>G (p.Pro2096Arg)
|
rs587781396
|
0.00001
|
|
NM_000059.4(BRCA2):c.6288T>G (p.Pro2096=)
|
rs372527810
|
0.00001
|
|
NM_000059.4(BRCA2):c.6289A>G (p.Thr2097Ala)
|
rs587781965
|
0.00001
|
|
NM_000059.4(BRCA2):c.6329A>G (p.Asp2110Gly)
|
rs80358873
|
0.00001
|
|
NM_000059.4(BRCA2):c.636A>G (p.Arg212=)
|
rs950724350
|
0.00001
|
|
NM_000059.4(BRCA2):c.6399_6401del (p.Asn2135del)
|
rs80359581
|
0.00001
|
|
NM_000059.4(BRCA2):c.6403A>C (p.Asn2135His)
|
rs80358876
|
0.00001
|
|
NM_000059.4(BRCA2):c.6413T>A (p.Val2138Asp)
|
rs80358877
|
0.00001
|
|
NM_000059.4(BRCA2):c.6430G>A (p.Glu2144Lys)
|
rs755967190
|
0.00001
|
|
NM_000059.4(BRCA2):c.6434A>G (p.Asn2145Ser)
|
rs80358878
|
0.00001
|
|
NM_000059.4(BRCA2):c.6437A>G (p.Asn2146Ser)
|
rs768512381
|
0.00001
|
|
NM_000059.4(BRCA2):c.6441C>G (p.His2147Gln)
|
rs80358879
|
0.00001
|
|
NM_000059.4(BRCA2):c.6443C>A (p.Ser2148Tyr)
|
rs80358880
|
0.00001
|
|
NM_000059.4(BRCA2):c.6450A>C (p.Lys2150Asn)
|
rs876658814
|
0.00001
|
|
NM_000059.4(BRCA2):c.6458C>T (p.Pro2153Leu)
|
rs276174873
|
0.00001
|
|
NM_000059.4(BRCA2):c.6461A>C (p.Tyr2154Ser)
|
rs80358882
|
0.00001
|
|
NM_000059.4(BRCA2):c.6467C>T (p.Ser2156Phe)
|
rs765575482
|
0.00001
|
|
NM_000059.4(BRCA2):c.6485A>G (p.Lys2162Arg)
|
rs11571660
|
0.00001
|
|
NM_000059.4(BRCA2):c.6496G>T (p.Val2166Leu)
|
rs750084851
|
0.00001
|
|
NM_000059.4(BRCA2):c.6514T>G (p.Ser2172Ala)
|
rs1222261194
|
0.00001
|
|
NM_000059.4(BRCA2):c.6532C>G (p.His2178Asp)
|
rs80358885
|
0.00001
|
|
NM_000059.4(BRCA2):c.6540G>C (p.Leu2180Phe)
|
rs398122560
|
0.00001
|
|
NM_000059.4(BRCA2):c.6559C>T (p.Pro2187Ser)
|
rs868216475
|
0.00001
|
|
NM_000059.4(BRCA2):c.6613G>A (p.Val2205Met)
|
rs80358889
|
0.00001
|
|
NM_000059.4(BRCA2):c.6619A>G (p.Thr2207Ala)
|
rs1555284772
|
0.00001
|
|
NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr)
|
rs431825344
|
0.00001
|
|
NM_000059.4(BRCA2):c.6638C>T (p.Ser2213Phe)
|
rs75925841
|
0.00001
|
|
NM_000059.4(BRCA2):c.6641C>T (p.Thr2214Ile)
|
rs1566235063
|
0.00001
|
|
NM_000059.4(BRCA2):c.6646T>G (p.Ser2216Ala)
|
rs918816907
|
0.00001
|
|
NM_000059.4(BRCA2):c.6695A>T (p.Lys2232Ile)
|
rs786203098
|
0.00001
|
|
NM_000059.4(BRCA2):c.6698C>A (p.Ala2233Asp)
|
rs41293501
|
0.00001
|
|
NM_000059.4(BRCA2):c.67+18A>G
|
rs1057524048
|
0.00001
|
|
NM_000059.4(BRCA2):c.67+4T>C
|
rs373546450
|
0.00001
|
|
NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys)
|
rs41293503
|
0.00001
|
|
NM_000059.4(BRCA2):c.6709G>C (p.Asp2237His)
|
rs1174104045
|
0.00001
|
|
NM_000059.4(BRCA2):c.6719T>A (p.Leu2240Gln)
|
rs369452046
|
0.00001
|
|
NM_000059.4(BRCA2):c.6724G>A (p.Asp2242Asn)
|
rs786202002
|
0.00001
|
|
NM_000059.4(BRCA2):c.6734T>A (p.Leu2245Gln)
|
rs772795886
|
0.00001
|
|
NM_000059.4(BRCA2):c.673A>G (p.Thr225Ala)
|
rs80358897
|
0.00001
|
|
NM_000059.4(BRCA2):c.6751C>T (p.His2251Tyr)
|
rs1260385979
|
0.00001
|
|
NM_000059.4(BRCA2):c.6772G>A (p.Glu2258Lys)
|
rs730881549
|
0.00001
|
|
NM_000059.4(BRCA2):c.6785T>G (p.Met2262Arg)
|
rs80358904
|
0.00001
|
|
NM_000059.4(BRCA2):c.6806T>C (p.Ile2269Thr)
|
rs398122564
|
0.00001
|
|
NM_000059.4(BRCA2):c.6815G>A (p.Arg2272Lys)
|
rs199522406
|
0.00001
|
|
NM_000059.4(BRCA2):c.682-13A>G
|
rs81002888
|
0.00001
|
|
NM_000059.4(BRCA2):c.6832A>G (p.Ile2278Val)
|
rs772645059
|
0.00001
|
|
NM_000059.4(BRCA2):c.6837A>T (p.Leu2279Phe)
|
rs431825346
|
0.00001
|
|
NM_000059.4(BRCA2):c.6842-19A>G
|
rs81002865
|
0.00001
|
|
NM_000059.4(BRCA2):c.6892G>A (p.Glu2298Lys)
|
rs80358914
|
0.00001
|
|
NM_000059.4(BRCA2):c.6943A>C (p.Ile2315Leu)
|
rs80358918
|
0.00001
|
|
NM_000059.4(BRCA2):c.6953G>A (p.Arg2318Gln)
|
rs80358921
|
0.00001
|
|
NM_000059.4(BRCA2):c.6986C>T (p.Pro2329Leu)
|
rs80358925
|
0.00001
|
|
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu)
|
rs80358934
|
0.00001
|
|
NM_000059.4(BRCA2):c.707A>G (p.His236Arg)
|
rs80358938
|
0.00001
|
|
NM_000059.4(BRCA2):c.7090G>A (p.Glu2364Lys)
|
rs80358940
|
0.00001
|
|
NM_000059.4(BRCA2):c.7096C>G (p.Leu2366Val)
|
rs80358941
|
0.00001
|
|
NM_000059.4(BRCA2):c.7104G>A (p.Leu2368=)
|
rs764698623
|
0.00001
|
|
NM_000059.4(BRCA2):c.7121A>G (p.Asn2374Ser)
|
rs1379054137
|
0.00001
|
|
NM_000059.4(BRCA2):c.7162A>G (p.Thr2388Ala)
|
rs1060502390
|
0.00001
|
|
NM_000059.4(BRCA2):c.7182A>G (p.Arg2394=)
|
rs80359797
|
0.00001
|
|
NM_000059.4(BRCA2):c.7222C>T (p.Pro2408Ser)
|
rs398122577
|
0.00001
|
|
NM_000059.4(BRCA2):c.7232A>C (p.Lys2411Thr)
|
rs80358950
|
0.00001
|
|
NM_000059.4(BRCA2):c.7241C>T (p.Ser2414Leu)
|
rs80358951
|
0.00001
|
|
NM_000059.4(BRCA2):c.7307A>T (p.Asn2436Ile)
|
rs80358955
|
0.00001
|
|
NM_000059.4(BRCA2):c.7402G>A (p.Val2468Ile)
|
rs730881553
|
0.00001
|
|
NM_000059.4(BRCA2):c.7436-4A>G
|
rs81002904
|
0.00001
|
|
NM_000059.4(BRCA2):c.7448G>A (p.Ser2483Asn)
|
rs80358967
|
0.00001
|
|
NM_000059.4(BRCA2):c.7463G>A (p.Arg2488Lys)
|
rs80358968
|
0.00001
|
|
NM_000059.4(BRCA2):c.7466A>G (p.Asp2489Gly)
|
rs80358970
|
0.00001
|
|
NM_000059.4(BRCA2):c.7481G>A (p.Arg2494Gln)
|
rs80358973
|
0.00001
|
|
NM_000059.4(BRCA2):c.7484T>C (p.Ile2495Thr)
|
rs80358974
|
0.00001
|
|
NM_000059.4(BRCA2):c.7617+4T>C
|
rs397507923
|
0.00001
|
|
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys)
|
rs431825354
|
0.00001
|
|
NM_000059.4(BRCA2):c.7637C>T (p.Ser2546Phe)
|
rs398122586
|
0.00001
|
|
NM_000059.4(BRCA2):c.7651A>C (p.Lys2551Gln)
|
rs398122587
|
0.00001
|
|
NM_000059.4(BRCA2):c.7714A>G (p.Ser2572Gly)
|
rs1060502442
|
0.00001
|
|
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe)
|
rs56335340
|
0.00001
|
|
NM_000059.4(BRCA2):c.7766C>A (p.Pro2589His)
|
rs80359005
|
0.00001
|
|
NM_000059.4(BRCA2):c.7805+8A>G
|
rs81002847
|
0.00001
|
|
NM_000059.4(BRCA2):c.784G>A (p.Ala262Thr)
|
rs397507393
|
0.00001
|
|
NM_000059.4(BRCA2):c.7928C>G (p.Ala2643Gly)
|
rs80359018
|
0.00001
|
|
NM_000059.4(BRCA2):c.7930A>G (p.Asn2644Asp)
|
rs431825360
|
0.00001
|
|
NM_000059.4(BRCA2):c.7931A>G (p.Asn2644Ser)
|
rs80359020
|
0.00001
|
|
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=)
|
rs80359800
|
0.00001
|
|
NM_000059.4(BRCA2):c.7995T>C (p.Asp2665=)
|
rs200757418
|
0.00001
|
|
NM_000059.4(BRCA2):c.8014A>G (p.Ile2672Val)
|
rs80359037
|
0.00001
|
|
NM_000059.4(BRCA2):c.8045C>T (p.Ala2682Val)
|
rs773506092
|
0.00001
|
|
NM_000059.4(BRCA2):c.809C>T (p.Ser270Leu)
|
rs276174902
|
0.00001
|
|
NM_000059.4(BRCA2):c.8103T>G (p.Ser2701=)
|
rs80359801
|
0.00001
|
|
NM_000059.4(BRCA2):c.8117A>G (p.Asn2706Ser)
|
rs80359055
|
0.00001
|
|
NM_000059.4(BRCA2):c.811G>A (p.Gly271Arg)
|
rs786204274
|
0.00001
|
|
NM_000059.4(BRCA2):c.8183T>C (p.Val2728Ala)
|
rs587781719
|
0.00001
|
|
NM_000059.4(BRCA2):c.818C>T (p.Ser273Leu)
|
rs80359068
|
0.00001
|
|
NM_000059.4(BRCA2):c.820T>C (p.Phe274Leu)
|
rs876659899
|
0.00001
|
|
NM_000059.4(BRCA2):c.825A>T (p.Lys275Asn)
|
rs397507399
|
0.00001
|
|
NM_000059.4(BRCA2):c.8293T>G (p.Cys2765Gly)
|
rs768247528
|
0.00001
|
|
NM_000059.4(BRCA2):c.8331+14C>T
|
rs1287378096
|
0.00001
|
|
NM_000059.4(BRCA2):c.8332-6G>T
|
rs587780872
|
0.00001
|
|
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln)
|
rs80359076
|
0.00001
|
|
NM_000059.4(BRCA2):c.8356G>A (p.Ala2786Thr)
|
rs80359077
|
0.00001
|
|
NM_000059.4(BRCA2):c.8359C>T (p.Arg2787Cys)
|
rs41293517
|
0.00001
|
|
NM_000059.4(BRCA2):c.8382C>G (p.Phe2794Leu)
|
rs80359084
|
0.00001
|
|
NM_000059.4(BRCA2):c.839A>G (p.Lys280Arg)
|
rs1306507591
|
0.00001
|
|
NM_000059.4(BRCA2):c.8417C>T (p.Ser2806Leu)
|
rs587782785
|
0.00001
|
|
NM_000059.4(BRCA2):c.8432A>G (p.Asp2811Gly)
|
rs80359090
|
0.00001
|
|
NM_000059.4(BRCA2):c.8450G>T (p.Cys2817Phe)
|
rs786201992
|
0.00001
|
|
NM_000059.4(BRCA2):c.847A>G (p.Ile283Val)
|
rs80359097
|
0.00001
|
|
NM_000059.4(BRCA2):c.848T>G (p.Ile283Ser)
|
rs730881507
|
0.00001
|
|
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys)
|
rs80359104
|
0.00001
|
|
NM_000059.4(BRCA2):c.8539G>A (p.Glu2847Lys)
|
rs80359108
|
0.00001
|
|
NM_000059.4(BRCA2):c.8545A>G (p.Lys2849Glu)
|
rs80359109
|
0.00001
|
|
NM_000059.4(BRCA2):c.856T>C (p.Ser286Pro)
|
rs80359111
|
0.00001
|
|
NM_000059.4(BRCA2):c.8647C>T (p.Pro2883Ser)
|
rs80359122
|
0.00001
|
|
NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile)
|
rs80359127
|
0.00001
|
|
NM_000059.4(BRCA2):c.8686C>T (p.Arg2896Cys)
|
rs373203204
|
0.00001
|
|
NM_000059.4(BRCA2):c.8764A>G (p.Ser2922Gly)
|
rs80359132
|
0.00001
|
|
NM_000059.4(BRCA2):c.8798G>C (p.Arg2933Thr)
|
rs553440338
|
0.00001
|
|
NM_000059.4(BRCA2):c.8866G>C (p.Glu2956Gln)
|
rs142040996
|
0.00001
|
|
NM_000059.4(BRCA2):c.8867A>C (p.Glu2956Ala)
|
rs151174152
|
0.00001
|
|
NM_000059.4(BRCA2):c.8893G>C (p.Asp2965His)
|
rs80359141
|
0.00001
|
|
NM_000059.4(BRCA2):c.893C>T (p.Thr298Ile)
|
rs753067824
|
0.00001
|
|
NM_000059.4(BRCA2):c.8971C>T (p.Arg2991Cys)
|
rs751787816
|
0.00001
|
|
NM_000059.4(BRCA2):c.8997G>A (p.Leu2999=)
|
rs80359804
|
0.00001
|
|
NM_000059.4(BRCA2):c.902A>G (p.Asp301Gly)
|
rs730881508
|
0.00001
|
|
NM_000059.4(BRCA2):c.9032T>C (p.Leu3011Pro)
|
rs80359155
|
0.00001
|
|
NM_000059.4(BRCA2):c.905C>A (p.Thr302Asn)
|
rs80359158
|
0.00001
|
|
NM_000059.4(BRCA2):c.9076C>G (p.Gln3026Glu)
|
rs80359159
|
0.00001
|
|
NM_000059.4(BRCA2):c.909T>G (p.Ser303=)
|
rs757430441
|
0.00001
|
|
NM_000059.4(BRCA2):c.9106C>G (p.Gln3036Glu)
|
rs202155613
|
0.00001
|
|
NM_000059.4(BRCA2):c.9155G>A (p.Arg3052Gln)
|
rs80359171
|
0.00001
|
|
NM_000059.4(BRCA2):c.9187C>T (p.Pro3063Ser)
|
rs80359176
|
0.00001
|
|
NM_000059.4(BRCA2):c.9205T>C (p.Cys3069Arg)
|
rs398122611
|
0.00001
|
|
NM_000059.4(BRCA2):c.9242T>C (p.Val3081Ala)
|
rs80359189
|
0.00001
|
|
NM_000059.4(BRCA2):c.9249A>T (p.Lys3083Asn)
|
rs80359191
|
0.00001
|
|
NM_000059.4(BRCA2):c.9257-18C>A
|
rs81002807
|
0.00001
|
|
NM_000059.4(BRCA2):c.927A>G (p.Ser309=)
|
rs80359806
|
0.00001
|
|
NM_000059.4(BRCA2):c.928T>G (p.Leu310Val)
|
rs778907270
|
0.00001
|
|
NM_000059.4(BRCA2):c.931T>G (p.Cys311Gly)
|
rs61754140
|
0.00001
|
|
NM_000059.4(BRCA2):c.938C>T (p.Ser313Phe)
|
rs397507428
|
0.00001
|
|
NM_000059.4(BRCA2):c.9407T>C (p.Leu3136Pro)
|
rs398122614
|
0.00001
|
|
NM_000059.4(BRCA2):c.9433G>C (p.Val3145Leu)
|
rs587776476
|
0.00001
|
|
NM_000059.4(BRCA2):c.9442G>T (p.Ala3148Ser)
|
rs949790323
|
0.00001
|
|
NM_000059.4(BRCA2):c.9477C>A (p.Phe3159Leu)
|
rs80359221
|
0.00001
|
|
NM_000059.4(BRCA2):c.9493A>G (p.Thr3165Ala)
|
rs587782568
|
0.00001
|
|
NM_000059.4(BRCA2):c.9496G>A (p.Val3166Ile)
|
rs398122615
|
0.00001
|
|
NM_000059.4(BRCA2):c.9509A>G (p.Asp3170Gly)
|
rs80359224
|
0.00001
|
|
NM_000059.4(BRCA2):c.950C>T (p.Thr317Ile)
|
rs1341473353
|
0.00001
|
|
NM_000059.4(BRCA2):c.9538C>T (p.Leu3180Phe)
|
rs200598289
|
0.00001
|
|
NM_000059.4(BRCA2):c.9581C>A (p.Pro3194Gln)
|
rs28897760
|
0.00001
|
|
NM_000059.4(BRCA2):c.9583A>G (p.Thr3195Ala)
|
rs80359227
|
0.00001
|
|
NM_000059.4(BRCA2):c.959T>C (p.Leu320Pro)
|
rs1334767632
|
0.00001
|
|
NM_000059.4(BRCA2):c.9616C>G (p.Gln3206Glu)
|
rs80359233
|
0.00001
|
|
NM_000059.4(BRCA2):c.963A>G (p.Gln321=)
|
rs276174927
|
0.00001
|
|
NM_000059.4(BRCA2):c.9646C>T (p.Leu3216=)
|
rs80359809
|
0.00001
|
|
NM_000059.4(BRCA2):c.9647T>C (p.Leu3216Pro)
|
rs431825377
|
0.00001
|
|
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln)
|
rs11571640
|
0.00001
|
|
NM_000059.4(BRCA2):c.966A>C (p.Lys322Asn)
|
rs879255473
|
0.00001
|
|
NM_000059.4(BRCA2):c.968T>G (p.Val323Gly)
|
rs398122619
|
0.00001
|
|
NM_000059.4(BRCA2):c.971G>C (p.Arg324Thr)
|
rs397507435
|
0.00001
|
|
NM_000059.4(BRCA2):c.9839C>A (p.Pro3280His)
|
rs80359246
|
0.00001
|
|
NM_000059.4(BRCA2):c.9905G>A (p.Arg3302Lys)
|
rs80359249
|
0.00001
|
|
NM_000059.4(BRCA2):c.998T>C (p.Phe333Ser)
|
rs781464949
|
0.00001
|
|
NM_000059.4(BRCA2):c.9997C>G (p.Leu3333Val)
|
rs567476314
|
0.00001
|
|
NM_000061.3(BTK):c.852A>G (p.Lys284=)
|
rs1057515724
|
0.00001
|
|
NM_000069.3(CACNA1S):c.1628C>T (p.Thr543Met)
|
rs777962341
|
0.00001
|
|
NM_000069.3(CACNA1S):c.1827+6C>T
|
rs202244301
|
0.00001
|
|
NM_000069.3(CACNA1S):c.2512G>A (p.Gly838Arg)
|
rs1356510559
|
0.00001
|
|
NM_000069.3(CACNA1S):c.3166A>G (p.Met1056Val)
|
rs757165791
|
0.00001
|
|
NM_000069.3(CACNA1S):c.3256-9G>A
|
rs1294455750
|
0.00001
|
|
NM_000069.3(CACNA1S):c.3584T>C (p.Ile1195Thr)
|
rs200366112
|
0.00001
|
|
NM_000069.3(CACNA1S):c.3823G>A (p.Val1275Ile)
|
rs760441649
|
0.00001
|
|
NM_000069.3(CACNA1S):c.3953+4C>T
|
rs763936268
|
0.00001
|
|
NM_000069.3(CACNA1S):c.4166G>A (p.Arg1389Gln)
|
rs756438139
|
0.00001
|
|
NM_000069.3(CACNA1S):c.4462G>A (p.Glu1488Lys)
|
rs533353353
|
0.00001
|
|
NM_000069.3(CACNA1S):c.4598T>C (p.Phe1533Ser)
|
rs772750589
|
0.00001
|
|
NM_000069.3(CACNA1S):c.531G>A (p.Ser177=)
|
rs750087191
|
0.00001
|
|
NM_000069.3(CACNA1S):c.695-5T>A
|
rs1487979476
|
0.00001
|
|
NM_000069.3(CACNA1S):c.826G>A (p.Asp276Asn)
|
rs757755172
|
0.00001
|
|
NM_000069.3(CACNA1S):c.900+9G>A
|
rs1454687459
|
0.00001
|
|
NM_000070.3(CAPN3):c.1062G>A (p.Val354=)
|
rs776793553
|
0.00001
|
|
NM_000070.3(CAPN3):c.1650T>C (p.Pro550=)
|
rs766405190
|
0.00001
|
|
NM_000070.3(CAPN3):c.1947G>A (p.Glu649=)
|
rs79440238
|
0.00001
|
|
NM_000070.3(CAPN3):c.2051-8C>T
|
rs754375124
|
0.00001
|
|
NM_000070.3(CAPN3):c.2259C>T (p.Asp753=)
|
rs755010088
|
0.00001
|
|
NM_000071.3(CBS):c.1065G>A (p.Ala355=)
|
rs748552493
|
0.00001
|
|
NM_000071.3(CBS):c.1551G>A (p.Gln517=)
|
rs750311684
|
0.00001
|
|
NM_000077.5(CDKN2A):c.225C>G (p.Pro75=)
|
rs762397298
|
0.00001
|
|
NM_000077.5(CDKN2A):c.315C>A (p.Asp105Glu)
|
rs763269347
|
0.00001
|
|
NM_000077.5(CDKN2A):c.320G>A (p.Arg107His)
|
rs370823171
|
0.00001
|
|
NM_000077.5(CDKN2A):c.32C>T (p.Pro11Leu)
|
rs1374664673
|
0.00001
|
|
NM_000077.5(CDKN2A):c.388C>T (p.Leu130=)
|
rs1060501261
|
0.00001
|
|
NM_000077.5(CDKN2A):c.415G>C (p.Gly139Arg)
|
rs587781733
|
0.00001
|
|
NM_000079.4(CHRNA1):c.1332C>T (p.Ala444=)
|
rs771587252
|
0.00001
|
|
NM_000079.4(CHRNA1):c.711C>T (p.Asn237=)
|
rs137852798
|
0.00001
|
|
NM_000081.4(LYST):c.2724C>T (p.Cys908=)
|
rs201440611
|
0.00001
|
|
NM_000082.4(ERCC8):c.-3G>A
|
rs199968351
|
0.00001
|
|
NM_000082.4(ERCC8):c.42C>T (p.Asp14=)
|
rs886043215
|
0.00001
|
|
NM_000082.4(ERCC8):c.637T>C (p.Leu213=)
|
rs752757232
|
0.00001
|
|
NM_000088.4(COL1A1):c.1045G>T (p.Val349Phe)
|
rs72645362
|
0.00001
|
|
NM_000088.4(COL1A1):c.1056+3G>A
|
rs367802613
|
0.00001
|
|
NM_000088.4(COL1A1):c.1875+3G>T
|
rs138164489
|
0.00001
|
|
NM_000088.4(COL1A1):c.2481C>T (p.Gly827=)
|
rs779002822
|
0.00001
|
|
NM_000088.4(COL1A1):c.2715C>T (p.Gly905=)
|
rs779337831
|
0.00001
|
|
NM_000088.4(COL1A1):c.3060C>T (p.Ala1020=)
|
rs751239116
|
0.00001
|
|
NM_000088.4(COL1A1):c.3556C>G (p.Pro1186Ala)
|
rs766461654
|
0.00001
|
|
NM_000089.4(COL1A2):c.2079+3A>G
|
rs1226079110
|
0.00001
|
|
NM_000089.4(COL1A2):c.2944-4A>T
|
rs143220941
|
0.00001
|
|
NM_000090.4(COL3A1):c.1758T>C (p.Asn586=)
|
rs756227982
|
0.00001
|
|
NM_000090.4(COL3A1):c.1761+6T>C
|
rs189483688
|
0.00001
|
|
NM_000090.4(COL3A1):c.1819C>G (p.Pro607Ala)
|
rs376525602
|
0.00001
|
|
NM_000090.4(COL3A1):c.183C>T (p.Leu61=)
|
rs753474870
|
0.00001
|
|
NM_000090.4(COL3A1):c.1864C>T (p.Pro622Ser)
|
rs772638774
|
0.00001
|
|
NM_000090.4(COL3A1):c.198A>G (p.Ile66Met)
|
rs372269408
|
0.00001
|
|
NM_000090.4(COL3A1):c.2048G>A (p.Arg683His)
|
rs753162027
|
0.00001
|
|
NM_000090.4(COL3A1):c.2607+10G>A
|
rs367789349
|
0.00001
|
|
NM_000090.4(COL3A1):c.2607T>A (p.Pro869=)
|
rs376643618
|
0.00001
|
|
NM_000090.4(COL3A1):c.267A>G (p.Pro89=)
|
rs998965783
|
0.00001
|
|
NM_000090.4(COL3A1):c.289C>T (p.Arg97Cys)
|
rs768671254
|
0.00001
|
|
NM_000090.4(COL3A1):c.3526-10C>T
|
rs376171095
|
0.00001
|
|
NM_000090.4(COL3A1):c.3626G>C (p.Gly1209Ala)
|
rs374452484
|
0.00001
|
|
NM_000090.4(COL3A1):c.745-7T>C
|
rs776306752
|
0.00001
|
|
NM_000090.4(COL3A1):c.792A>G (p.Gly264=)
|
rs113304344
|
0.00001
|
|
NM_000090.4(COL3A1):c.898-14A>G
|
rs763316592
|
0.00001
|
|
NM_000091.5(COL4A3):c.1923A>C (p.Glu641Asp)
|
rs752819997
|
0.00001
|
|
NM_000091.5(COL4A3):c.2096T>C (p.Ile699Thr)
|
rs754146345
|
0.00001
|
|
NM_000091.5(COL4A3):c.2746+17C>T
|
rs765408537
|
0.00001
|
|
NM_000091.5(COL4A3):c.3264T>G (p.Pro1088=)
|
rs770449474
|
0.00001
|
|
NM_000092.5(COL4A4):c.133G>T (p.Gly45Cys)
|
rs753016038
|
0.00001
|
|
NM_000092.5(COL4A4):c.2123G>T (p.Arg708Ile)
|
rs759828394
|
0.00001
|
|
NM_000092.5(COL4A4):c.2407C>T (p.Leu803=)
|
rs762646235
|
0.00001
|
|
NM_000092.5(COL4A4):c.2549C>T (p.Ala850Val)
|
rs758199486
|
0.00001
|
|
NM_000092.5(COL4A4):c.264A>G (p.Ser88=)
|
rs746574978
|
0.00001
|
|
NM_000092.5(COL4A4):c.3014G>A (p.Gly1005Glu)
|
rs769138971
|
0.00001
|
|
NM_000092.5(COL4A4):c.303A>T (p.Gly101=)
|
rs1450052915
|
0.00001
|
|
NM_000092.5(COL4A4):c.3214+6G>A
|
rs372554120
|
0.00001
|
|
NM_000092.5(COL4A4):c.3506-8T>G
|
rs761588725
|
0.00001
|
|
NM_000092.5(COL4A4):c.3771G>A (p.Pro1257=)
|
rs1384523881
|
0.00001
|
|
NM_000092.5(COL4A4):c.4273T>C (p.Ser1425Pro)
|
rs764494474
|
0.00001
|
|
NM_000093.5(COL5A1):c.1752G>A (p.Glu584=)
|
rs376865199
|
0.00001
|
|
NM_000093.5(COL5A1):c.2593-3C>T
|
rs199895142
|
0.00001
|
|
NM_000093.5(COL5A1):c.4831A>C (p.Ile1611Leu)
|
rs754447923
|
0.00001
|
|
NM_000093.5(COL5A1):c.5206G>A (p.Ala1736Thr)
|
rs753339980
|
0.00001
|
|
NM_000094.4(COL7A1):c.1403G>A (p.Arg468His)
|
rs768672251
|
0.00001
|
|
NM_000094.4(COL7A1):c.1720C>T (p.Arg574Trp)
|
rs200762860
|
0.00001
|
|
NM_000094.4(COL7A1):c.2016G>C (p.Glu672Asp)
|
rs754341326
|
0.00001
|
|
NM_000094.4(COL7A1):c.2202G>A (p.Glu734=)
|
rs549271654
|
0.00001
|
|
NM_000094.4(COL7A1):c.2557G>A (p.Gly853Ser)
|
rs773229775
|
0.00001
|
|
NM_000094.4(COL7A1):c.2852G>A (p.Arg951His)
|
rs540205999
|
0.00001
|
|
NM_000094.4(COL7A1):c.2968C>T (p.Arg990Trp)
|
rs763751979
|
0.00001
|
|
NM_000094.4(COL7A1):c.3727C>T (p.Arg1243Trp)
|
rs1189017197
|
0.00001
|
|
NM_000094.4(COL7A1):c.3771G>A (p.Gly1257=)
|
rs778777140
|
0.00001
|
|
NM_000094.4(COL7A1):c.3831+3G>A
|
rs767241808
|
0.00001
|
|
NM_000094.4(COL7A1):c.4635+10G>A
|
rs749722600
|
0.00001
|
|
NM_000094.4(COL7A1):c.5559C>T (p.Asp1853=)
|
rs776433840
|
0.00001
|
|
NM_000094.4(COL7A1):c.5661G>C (p.Gly1887=)
|
rs371009419
|
0.00001
|
|
NM_000094.4(COL7A1):c.6075C>T (p.Gly2025=)
|
rs763329165
|
0.00001
|
|
NM_000094.4(COL7A1):c.61G>C (p.Val21Leu)
|
rs377112899
|
0.00001
|
|
NM_000094.4(COL7A1):c.631G>A (p.Val211Ile)
|
rs557797952
|
0.00001
|
|
NM_000094.4(COL7A1):c.6447C>T (p.Asp2149=)
|
rs199843749
|
0.00001
|
|
NM_000094.4(COL7A1):c.6738G>T (p.Leu2246Phe)
|
rs575575729
|
0.00001
|
|
NM_000094.4(COL7A1):c.6884C>T (p.Thr2295Met)
|
rs757102252
|
0.00001
|
|
NM_000094.4(COL7A1):c.6954T>C (p.Leu2318=)
|
rs1054273238
|
0.00001
|
|
NM_000094.4(COL7A1):c.8167C>T (p.Pro2723Ser)
|
rs774540354
|
0.00001
|
|
NM_000094.4(COL7A1):c.8457T>C (p.Tyr2819=)
|
rs751768659
|
0.00001
|
|
NM_000095.3(COMP):c.1110G>A (p.Ala370=)
|
rs780972997
|
0.00001
|
|
NM_000095.3(COMP):c.1563G>A (p.Pro521=)
|
rs756075225
|
0.00001
|
|
NM_000096.4(CP):c.1380C>T (p.Thr460=)
|
rs149790356
|
0.00001
|
|
NM_000096.4(CP):c.2697T>C (p.Val899=)
|
rs17847022
|
0.00001
|
|
NM_000097.7(CPOX):c.557-10C>G
|
rs1553696573
|
0.00001
|
|
NM_000098.3(CPT2):c.1233G>A (p.Thr411=)
|
rs112914907
|
0.00001
|
|
NM_000098.3(CPT2):c.1476C>T (p.Ala492=)
|
rs548364005
|
0.00001
|
|
NM_000098.3(CPT2):c.1536C>T (p.Cys512=)
|
rs199573389
|
0.00001
|
|
NM_000098.3(CPT2):c.36G>C (p.Arg12=)
|
rs1350688021
|
0.00001
|
|
NM_000103.4(CYP19A1):c.501C>A (p.Ser167=)
|
rs35900050
|
0.00001
|
|
NM_000108.5(DLD):c.1266A>G (p.Pro422=)
|
rs766756785
|
0.00001
|
|
NM_000108.5(DLD):c.1500T>C (p.Ala500=)
|
rs773097788
|
0.00001
|
|
NM_000108.5(DLD):c.199-7G>T
|
rs1358100638
|
0.00001
|
|
NM_000108.5(DLD):c.375G>A (p.Glu125=)
|
rs559057715
|
0.00001
|
|
NM_000117.3(EMD):c.385G>A (p.Ala129Thr)
|
rs782768362
|
0.00001
|
|
NM_000117.3(EMD):c.423T>G (p.Ser141=)
|
rs1209782193
|
0.00001
|
|
NM_000124.4(ERCC6):c.1452C>T (p.Asp484=)
|
rs762734699
|
0.00001
|
|
NM_000124.4(ERCC6):c.1606T>C (p.Leu536=)
|
rs759447711
|
0.00001
|
|
NM_000124.4(ERCC6):c.1888T>C (p.Leu630=)
|
rs747204355
|
0.00001
|
|
NM_000124.4(ERCC6):c.2013C>T (p.Ile671=)
|
rs546407915
|
0.00001
|
|
NM_000124.4(ERCC6):c.2037A>G (p.Gln679=)
|
rs756713165
|
0.00001
|
|
NM_000124.4(ERCC6):c.813C>T (p.Phe271=)
|
rs764319566
|
0.00001
|
|
NM_000126.4(ETFA):c.321C>T (p.His107=)
|
rs368550471
|
0.00001
|
|
NM_000126.4(ETFA):c.759T>C (p.Asp253=)
|
rs142970498
|
0.00001
|
|
NM_000126.4(ETFA):c.78T>C (p.Ala26=)
|
rs773298687
|
0.00001
|
|
NM_000127.3(EXT1):c.1266T>A (p.Ile422=)
|
rs899395870
|
0.00001
|
|
NM_000130.5(F5):c.1545C>T (p.Ile515=)
|
rs886045551
|
0.00001
|
|
NM_000130.5(F5):c.3255A>C (p.Thr1085=)
|
rs6006
|
0.00001
|
|
NM_000130.5(F5):c.3810C>G (p.Ala1270=)
|
rs781657137
|
0.00001
|
|
NM_000130.5(F5):c.5001G>A (p.Pro1667=)
|
rs747456938
|
0.00001
|
|
NM_000130.5(F5):c.5788+4A>T
|
rs759428783
|
0.00001
|
|
NM_000130.5(F5):c.6360G>A (p.Lys2120=)
|
rs757104503
|
0.00001
|
|
NM_000133.4(F9):c.60A>G (p.Leu20=)
|
rs762082146
|
0.00001
|
|
NM_000135.4(FANCA):c.1007-7C>G
|
rs111271660
|
0.00001
|
|
NM_000135.4(FANCA):c.1078C>T (p.Arg360Cys)
|
rs375895456
|
0.00001
|
|
NM_000135.4(FANCA):c.1500C>T (p.Pro500=)
|
rs139276494
|
0.00001
|
|
NM_000135.4(FANCA):c.1632C>A (p.His544Gln)
|
rs553129361
|
0.00001
|
|
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=)
|
rs529199293
|
0.00001
|
|
NM_000135.4(FANCA):c.1803G>A (p.Val601=)
|
rs757053400
|
0.00001
|
|
NM_000135.4(FANCA):c.1889A>T (p.Glu630Val)
|
rs199599499
|
0.00001
|
|
NM_000135.4(FANCA):c.1990A>G (p.Met664Val)
|
rs748579719
|
0.00001
|
|
NM_000135.4(FANCA):c.2125C>G (p.Pro709Ala)
|
rs746373917
|
0.00001
|
|
NM_000135.4(FANCA):c.2126C>T (p.Pro709Leu)
|
rs148203537
|
0.00001
|
|
NM_000135.4(FANCA):c.2394C>T (p.Leu798=)
|
rs765883419
|
0.00001
|
|
NM_000135.4(FANCA):c.2602-8T>C
|
rs772897825
|
0.00001
|
|
NM_000135.4(FANCA):c.2779-9C>G
|
rs764825402
|
0.00001
|
|
NM_000135.4(FANCA):c.283+9T>C
|
rs779593295
|
0.00001
|
|
NM_000135.4(FANCA):c.2874G>A (p.Ala958=)
|
rs199916178
|
0.00001
|
|
NM_000135.4(FANCA):c.3193G>A (p.Val1065Met)
|
rs140124051
|
0.00001
|
|
NM_000135.4(FANCA):c.3246C>T (p.Leu1082=)
|
rs753864057
|
0.00001
|
|
NM_000135.4(FANCA):c.3270C>T (p.Leu1090=)
|
rs762719233
|
0.00001
|
|
NM_000135.4(FANCA):c.3274G>A (p.Gly1092Ser)
|
rs772828870
|
0.00001
|
|
NM_000135.4(FANCA):c.3525G>A (p.Pro1175=)
|
rs765106818
|
0.00001
|
|
NM_000135.4(FANCA):c.3550C>T (p.Arg1184Trp)
|
rs201492940
|
0.00001
|
|
NM_000135.4(FANCA):c.3556A>G (p.Arg1186Gly)
|
rs748713183
|
0.00001
|
|
NM_000135.4(FANCA):c.3626+4C>T
|
rs772166806
|
0.00001
|
|
NM_000135.4(FANCA):c.3626+7G>A
|
rs933657325
|
0.00001
|
|
NM_000135.4(FANCA):c.3703C>G (p.Gln1235Glu)
|
rs769919783
|
0.00001
|
|
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys)
|
rs745665658
|
0.00001
|
|
NM_000135.4(FANCA):c.3843G>A (p.Leu1281=)
|
rs768380959
|
0.00001
|
|
NM_000135.4(FANCA):c.3858C>T (p.His1286=)
|
rs761705192
|
0.00001
|
|
NM_000135.4(FANCA):c.39G>C (p.Gln13His)
|
rs1486155993
|
0.00001
|
|
NM_000135.4(FANCA):c.582A>G (p.Gln194=)
|
rs748517164
|
0.00001
|
|
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys)
|
rs376307136
|
0.00001
|
|
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys)
|
rs886052487
|
0.00001
|
|
NM_000135.4(FANCA):c.793-12C>G
|
rs746312984
|
0.00001
|
|
NM_000135.4(FANCA):c.797C>T (p.Thr266Met)
|
rs752799441
|
0.00001
|
|
NM_000135.4(FANCA):c.913C>T (p.His305Tyr)
|
rs774054025
|
0.00001
|
|
NM_000136.3(FANCC):c.1048A>G (p.Met350Val)
|
rs863224607
|
0.00001
|
|
NM_000136.3(FANCC):c.1281C>T (p.Ala427=)
|
rs754604606
|
0.00001
|
|
NM_000137.4(FAH):c.1180+10G>A
|
rs758464032
|
0.00001
|
|
NM_000137.4(FAH):c.237G>A (p.Lys79=)
|
rs1490117712
|
0.00001
|
|
NM_000137.4(FAH):c.296A>G (p.Asp99Gly)
|
rs547847694
|
0.00001
|
|
NM_000138.5(FBN1):c.1289C>T (p.Pro430Leu)
|
rs771134832
|
0.00001
|
|
NM_000138.5(FBN1):c.1603T>A (p.Leu535Ile)
|
rs1485432119
|
0.00001
|
|
NM_000138.5(FBN1):c.1653C>T (p.Gly551=)
|
rs766565738
|
0.00001
|
|
NM_000138.5(FBN1):c.1856C>A (p.Thr619Asn)
|
rs377686210
|
0.00001
|
|
NM_000138.5(FBN1):c.2113+19A>T
|
rs541501178
|
0.00001
|
|
NM_000138.5(FBN1):c.2127A>C (p.Ala709=)
|
rs886038990
|
0.00001
|
|
NM_000138.5(FBN1):c.2228G>A (p.Arg743His)
|
rs761942436
|
0.00001
|
|
NM_000138.5(FBN1):c.2683A>G (p.Ile895Val)
|
rs772308703
|
0.00001
|
|
NM_000138.5(FBN1):c.2711A>G (p.Lys904Arg)
|
rs778951277
|
0.00001
|
|
NM_000138.5(FBN1):c.2773C>G (p.Leu925Val)
|
rs149681175
|
0.00001
|
|
NM_000138.5(FBN1):c.2979C>T (p.Cys993=)
|
rs150126098
|
0.00001
|
|
NM_000138.5(FBN1):c.3043G>A (p.Ala1015Thr)
|
rs55831697
|
0.00001
|
|
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser)
|
rs375996640
|
0.00001
|
|
NM_000138.5(FBN1):c.353A>G (p.His118Arg)
|
rs765503809
|
0.00001
|
|
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg)
|
rs193922200
|
0.00001
|
|
NM_000138.5(FBN1):c.3711C>T (p.Thr1237=)
|
rs536369260
|
0.00001
|
|
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile)
|
rs568625812
|
0.00001
|
|
NM_000138.5(FBN1):c.4075A>G (p.Ile1359Val)
|
rs202192505
|
0.00001
|
|
NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val)
|
rs761187818
|
0.00001
|
|
NM_000138.5(FBN1):c.5142G>A (p.Met1714Ile)
|
rs368287795
|
0.00001
|
|
NM_000138.5(FBN1):c.5312G>A (p.Arg1771Gln)
|
rs759791896
|
0.00001
|
|
NM_000138.5(FBN1):c.5603C>T (p.Thr1868Ile)
|
rs145082616
|
0.00001
|
|
NM_000138.5(FBN1):c.5753A>G (p.His1918Arg)
|
rs993464239
|
0.00001
|
|
NM_000138.5(FBN1):c.5876A>G (p.Asn1959Ser)
|
rs773486280
|
0.00001
|
|
NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys)
|
rs773204216
|
0.00001
|
|
NM_000138.5(FBN1):c.6187G>A (p.Ala2063Thr)
|
rs1316593215
|
0.00001
|
|
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln)
|
rs759696323
|
0.00001
|
|
NM_000138.5(FBN1):c.6932G>A (p.Arg2311His)
|
rs141868829
|
0.00001
|
|
NM_000138.5(FBN1):c.7181G>A (p.Arg2394Gln)
|
rs199750146
|
0.00001
|
|
NM_000138.5(FBN1):c.7189A>G (p.Met2397Val)
|
rs774698871
|
0.00001
|
|
NM_000138.5(FBN1):c.7559C>T (p.Thr2520Met)
|
rs763759308
|
0.00001
|
|
NM_000138.5(FBN1):c.7848C>G (p.Ile2616Met)
|
rs138184493
|
0.00001
|
|
NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln)
|
rs200231626
|
0.00001
|
|
NM_000138.5(FBN1):c.8227-3C>T
|
rs200822151
|
0.00001
|
|
NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu)
|
rs371939796
|
0.00001
|
|
NM_000141.5(FGFR2):c.1239G>A (p.Pro413=)
|
rs147674677
|
0.00001
|
|
NM_000141.5(FGFR2):c.138A>C (p.Gln46His)
|
rs748117555
|
0.00001
|
|
NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu)
|
rs79184941
|
0.00001
|
|
NM_000142.5(FGFR3):c.1223C>T (p.Ser408Phe)
|
rs761877926
|
0.00001
|
|
NM_000142.5(FGFR3):c.150C>T (p.Val50=)
|
rs750641928
|
0.00001
|
|
NM_000142.5(FGFR3):c.1645+4G>C
|
rs1367336734
|
0.00001
|
|
NM_000142.5(FGFR3):c.446-10C>T
|
rs762297923
|
0.00001
|
|
NM_000142.5(FGFR3):c.514G>A (p.Val172Ile)
|
rs529408918
|
0.00001
|
|
NM_000142.5(FGFR3):c.630G>A (p.Gln210=)
|
rs777091470
|
0.00001
|
|
NM_000142.5(FGFR3):c.666C>T (p.Asp222=)
|
rs201081464
|
0.00001
|
|
NM_000143.4(FH):c.133-3T>C
|
rs1553341989
|
0.00001
|
|
NM_000143.4(FH):c.1390+6T>A
|
rs1338650106
|
0.00001
|
|
NM_000143.4(FH):c.1479A>G (p.Thr493=)
|
rs755633330
|
0.00001
|
|
NM_000143.4(FH):c.219G>A (p.Val73=)
|
rs1213056420
|
0.00001
|
|
NM_000143.4(FH):c.414C>T (p.Leu138=)
|
rs540968725
|
0.00001
|
|
NM_000143.4(FH):c.648T>A (p.Asp216Glu)
|
rs199536615
|
0.00001
|
|
NM_000143.4(FH):c.655G>A (p.Asp219Asn)
|
rs11545656
|
0.00001
|
|
NM_000144.5(FXN):c.123C>T (p.Gly41=)
|
rs1057519131
|
0.00001
|
|
NM_000147.5(FUCA1):c.30G>C (p.Pro10=)
|
rs886046326
|
0.00001
|
|
NM_000151.4(G6PC1):c.1056G>A (p.Pro352=)
|
rs779263877
|
0.00001
|
|
NM_000151.4(G6PC1):c.231-12G>A
|
rs373908549
|
0.00001
|
|
NM_000151.4(G6PC1):c.340+7G>A
|
rs570199529
|
0.00001
|
|
NM_000151.4(G6PC1):c.879A>G (p.Pro293=)
|
rs529957748
|
0.00001
|
|
NM_000152.5(GAA):c.1047C>T (p.Ser349=)
|
rs138262940
|
0.00001
|
|
NM_000152.5(GAA):c.1192C>T (p.Leu398=)
|
rs369707231
|
0.00001
|
|
NM_000152.5(GAA):c.1347G>A (p.Ser449=)
|
rs756938942
|
0.00001
|
|
NM_000152.5(GAA):c.1410C>T (p.Asn470=)
|
rs886043068
|
0.00001
|
|
NM_000152.5(GAA):c.1827C>T (p.Tyr609=)
|
rs745754277
|
0.00001
|
|
NM_000152.5(GAA):c.1842G>A (p.Thr614=)
|
rs373955374
|
0.00001
|
|
NM_000152.5(GAA):c.2427C>G (p.Ala809=)
|
rs766325117
|
0.00001
|
|
NM_000152.5(GAA):c.2641A>G (p.Arg881Gly)
|
rs769578772
|
0.00001
|
|
NM_000152.5(GAA):c.2712G>A (p.Val904=)
|
rs886043848
|
0.00001
|
|
NM_000152.5(GAA):c.36C>T (p.Leu12=)
|
rs200548806
|
0.00001
|
|
NM_000152.5(GAA):c.444C>T (p.Tyr148=)
|
rs886043112
|
0.00001
|
|
NM_000152.5(GAA):c.615G>A (p.Pro205=)
|
rs141427808
|
0.00001
|
|
NM_000152.5(GAA):c.630C>T (p.Ser210=)
|
rs775568949
|
0.00001
|
|
NM_000152.5(GAA):c.692+9T>C
|
rs367661167
|
0.00001
|
|
NM_000152.5(GAA):c.702G>A (p.Thr234=)
|
rs755337511
|
0.00001
|
|
NM_000152.5(GAA):c.834G>A (p.Leu278=)
|
rs776314424
|
0.00001
|
|
NM_000152.5(GAA):c.876C>T (p.Tyr292=)
|
rs763216519
|
0.00001
|
|
NM_000152.5(GAA):c.900G>A (p.Ala300=)
|
rs759425304
|
0.00001
|
|
NM_000152.5(GAA):c.906G>A (p.Glu302=)
|
rs1488323868
|
0.00001
|
|
NM_000152.5(GAA):c.918G>A (p.Ser306=)
|
rs373276219
|
0.00001
|
|
NM_000152.5(GAA):c.993G>A (p.Arg331=)
|
rs749831587
|
0.00001
|
|
NM_000153.4(GALC):c.1443A>G (p.Pro481=)
|
rs1359281521
|
0.00001
|
|
NM_000153.4(GALC):c.1572C>T (p.Gly524=)
|
rs753164684
|
0.00001
|
|
NM_000153.4(GALC):c.1752A>G (p.Lys584=)
|
rs201016488
|
0.00001
|
|
NM_000153.4(GALC):c.2001A>C (p.Gly667=)
|
rs769902280
|
0.00001
|
|
NM_000153.4(GALC):c.450A>T (p.Pro150=)
|
rs886050866
|
0.00001
|
|
NM_000153.4(GALC):c.81C>T (p.Ala27=)
|
rs759433028
|
0.00001
|
|
NM_000154.2(GALK1):c.321C>T (p.Ala107=)
|
rs771880802
|
0.00001
|
|
NM_000154.2(GALK1):c.786G>A (p.Glu262=)
|
rs756263074
|
0.00001
|
|
NM_000155.4(GALT):c.378-7C>T
|
rs751084584
|
0.00001
|
|
NM_000155.4(GALT):c.564+7G>A
|
rs760189807
|
0.00001
|
|
NM_000155.4(GALT):c.843G>A (p.Lys281=)
|
rs368298966
|
0.00001
|
|
NM_000156.6(GAMT):c.182G>A (p.Gly61Glu)
|
rs77168423
|
0.00001
|
|
NM_000158.4(GBE1):c.1335+9C>G
|
rs754084067
|
0.00001
|
|
NM_000158.4(GBE1):c.1581G>A (p.Thr527=)
|
rs140571802
|
0.00001
|
|
NM_000158.4(GBE1):c.692-6A>G
|
rs757655010
|
0.00001
|
|
NM_000159.4(GCDH):c.1082+8C>T
|
rs199627852
|
0.00001
|
|
NM_000159.4(GCDH):c.826G>T (p.Val276Leu)
|
rs763300541
|
0.00001
|
|
NM_000163.5(GHR):c.1686A>G (p.Gln562=)
|
rs145428904
|
0.00001
|
|
NM_000166.6(GJB1):c.462T>C (p.Tyr154=)
|
rs879254098
|
0.00001
|
|
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys)
|
rs587777879
|
0.00001
|
|
NM_000168.6(GLI3):c.1346G>A (p.Arg449Gln)
|
rs745809543
|
0.00001
|
|
NM_000168.6(GLI3):c.2432-5T>C
|
rs768250382
|
0.00001
|
|
NM_000169.3(GLA):c.194+6A>G
|
rs1463398466
|
0.00001
|
|
NM_000169.3(GLA):c.247G>A (p.Asp83Asn)
|
rs782722577
|
0.00001
|
|
NM_000169.3(GLA):c.801+14C>T
|
rs200744672
|
0.00001
|
|
NM_000170.3(GLDC):c.1210C>T (p.Leu404=)
|
rs781450542
|
0.00001
|
|
NM_000170.3(GLDC):c.1367G>A (p.Arg456Gln)
|
rs767652664
|
0.00001
|
|
NM_000170.3(GLDC):c.1402-14T>G
|
rs376719104
|
0.00001
|
|
NM_000170.3(GLDC):c.1665+7A>T
|
rs759573888
|
0.00001
|
|
NM_000170.3(GLDC):c.1734C>T (p.Asn578=)
|
rs1034614089
|
0.00001
|
|
NM_000170.3(GLDC):c.1830G>A (p.Gln610=)
|
rs765268971
|
0.00001
|
|
NM_000170.3(GLDC):c.2145C>T (p.Asp715=)
|
rs769158507
|
0.00001
|
|
NM_000170.3(GLDC):c.2742A>T (p.Ala914=)
|
rs374022098
|
0.00001
|
|
NM_000170.3(GLDC):c.2925C>T (p.Phe975=)
|
rs1052505781
|
0.00001
|
|
NM_000170.3(GLDC):c.668C>G (p.Pro223Arg)
|
rs201049516
|
0.00001
|
|
NM_000170.3(GLDC):c.96G>T (p.Pro32=)
|
rs1430526811
|
0.00001
|
|
NM_000179.3(MSH6):c.*4_*6dup
|
rs1451012329
|
0.00001
|
|
NM_000179.3(MSH6):c.-12C>G
|
rs766407370
|
0.00001
|
|
NM_000179.3(MSH6):c.1061G>T (p.Gly354Val)
|
rs730881788
|
0.00001
|
|
NM_000179.3(MSH6):c.1078A>G (p.Ser360Gly)
|
rs145994565
|
0.00001
|
|
NM_000179.3(MSH6):c.1106C>T (p.Thr369Ile)
|
rs375974046
|
0.00001
|
|
NM_000179.3(MSH6):c.110C>T (p.Ala37Val)
|
rs763104308
|
0.00001
|
|
NM_000179.3(MSH6):c.1132A>C (p.Arg378=)
|
rs781572949
|
0.00001
|
|
NM_000179.3(MSH6):c.1168G>A (p.Asp390Asn)
|
rs147737737
|
0.00001
|
|
NM_000179.3(MSH6):c.1170T>C (p.Asp390=)
|
rs55882234
|
0.00001
|
|
NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys)
|
rs63750065
|
0.00001
|
|
NM_000179.3(MSH6):c.1211A>G (p.Asn404Ser)
|
rs768740986
|
0.00001
|
|
NM_000179.3(MSH6):c.131C>T (p.Pro44Leu)
|
rs863224615
|
0.00001
|
|
NM_000179.3(MSH6):c.1403G>A (p.Arg468His)
|
rs41295268
|
0.00001
|
|
NM_000179.3(MSH6):c.1565A>G (p.Gln522Arg)
|
rs63751009
|
0.00001
|
|
NM_000179.3(MSH6):c.1599G>C (p.Glu533Asp)
|
rs373726731
|
0.00001
|
|
NM_000179.3(MSH6):c.1607G>C (p.Ser536Thr)
|
rs587782352
|
0.00001
|
|
NM_000179.3(MSH6):c.161G>C (p.Gly54Ala)
|
rs63751098
|
0.00001
|
|
NM_000179.3(MSH6):c.1707C>T (p.Phe569=)
|
rs1553413086
|
0.00001
|
|
NM_000179.3(MSH6):c.194C>T (p.Ser65Leu)
|
rs41294984
|
0.00001
|
|
NM_000179.3(MSH6):c.1999G>C (p.Asp667His)
|
rs151086192
|
0.00001
|
|
NM_000179.3(MSH6):c.2027A>G (p.Lys676Arg)
|
rs143643688
|
0.00001
|
|
NM_000179.3(MSH6):c.208A>G (p.Lys70Glu)
|
rs863224621
|
0.00001
|
|
NM_000179.3(MSH6):c.2101T>C (p.Leu701=)
|
rs1057523503
|
0.00001
|
|
NM_000179.3(MSH6):c.2141C>G (p.Ser714Cys)
|
rs730881796
|
0.00001
|
|
NM_000179.3(MSH6):c.2147C>T (p.Thr716Ile)
|
rs587782805
|
0.00001
|
|
NM_000179.3(MSH6):c.2249C>A (p.Thr750Lys)
|
rs730881817
|
0.00001
|
|
NM_000179.3(MSH6):c.2300C>G (p.Thr767Ser)
|
rs587781462
|
0.00001
|
|
NM_000179.3(MSH6):c.2419G>A (p.Glu807Lys)
|
rs587779923
|
0.00001
|
|
NM_000179.3(MSH6):c.260+7G>A
|
rs774479750
|
0.00001
|
|
NM_000179.3(MSH6):c.2600T>G (p.Val867Gly)
|
rs139598980
|
0.00001
|
|
NM_000179.3(MSH6):c.2765G>A (p.Arg922Gln)
|
rs752839086
|
0.00001
|
|
NM_000179.3(MSH6):c.2827G>T (p.Asp943Tyr)
|
rs143520357
|
0.00001
|
|
NM_000179.3(MSH6):c.3198T>C (p.Tyr1066=)
|
rs199643502
|
0.00001
|
|
NM_000179.3(MSH6):c.3233T>C (p.Val1078Ala)
|
rs376452612
|
0.00001
|
|
NM_000179.3(MSH6):c.3254C>A (p.Thr1085Asn)
|
rs761724581
|
0.00001
|
|
NM_000179.3(MSH6):c.3312T>A (p.Phe1104Leu)
|
rs747441460
|
0.00001
|
|
NM_000179.3(MSH6):c.3334G>A (p.Asp1112Asn)
|
rs773955368
|
0.00001
|
|
NM_000179.3(MSH6):c.33C>G (p.Phe11Leu)
|
rs747802641
|
0.00001
|
|
NM_000179.3(MSH6):c.3605T>C (p.Met1202Thr)
|
rs587779273
|
0.00001
|
|
NM_000179.3(MSH6):c.3675G>A (p.Thr1225=)
|
rs730881820
|
0.00001
|
|
NM_000179.3(MSH6):c.3879T>C (p.Ala1293=)
|
rs752369374
|
0.00001
|
|
NM_000179.3(MSH6):c.38A>G (p.Lys13Arg)
|
rs41294988
|
0.00001
|
|
NM_000179.3(MSH6):c.3980A>G (p.Asn1327Ser)
|
rs780187989
|
0.00001
|
|
NM_000179.3(MSH6):c.4002-4T>C
|
rs370428032
|
0.00001
|
|
NM_000179.3(MSH6):c.4002-8A>C
|
rs778957100
|
0.00001
|
|
NM_000179.3(MSH6):c.4012C>T (p.Leu1338=)
|
rs1060504743
|
0.00001
|
|
NM_000179.3(MSH6):c.457+7G>C
|
rs781280171
|
0.00001
|
|
NM_000179.3(MSH6):c.458-17A>G
|
rs554847828
|
0.00001
|
|
NM_000179.3(MSH6):c.533G>A (p.Arg178His)
|
rs786204186
|
0.00001
|
|
NM_000179.3(MSH6):c.869T>C (p.Leu290Pro)
|
rs751309721
|
0.00001
|
|
NM_000179.3(MSH6):c.905G>A (p.Arg302Lys)
|
rs587781510
|
0.00001
|
|
NM_000179.3(MSH6):c.980C>G (p.Thr327Ser)
|
rs369568820
|
0.00001
|
|
NM_000179.3(MSH6):c.998C>T (p.Thr333Ile)
|
rs587781983
|
0.00001
|
|
NM_000180.4(GUCY2D):c.1851G>A (p.Val617=)
|
rs754581545
|
0.00001
|
|
NM_000181.4(GUSB):c.1050G>A (p.Lys350=)
|
rs121918182
|
0.00001
|
|
NM_000181.4(GUSB):c.1245-4G>A
|
rs548368848
|
0.00001
|
|
NM_000181.4(GUSB):c.210+11G>C
|
rs886062403
|
0.00001
|
|
NM_000181.4(GUSB):c.988G>T (p.Ala330Ser)
|
rs561880652
|
0.00001
|
|
NM_000182.5(HADHA):c.67+17G>C
|
rs574255291
|
0.00001
|
|
NM_000186.4(CFH):c.2783-8T>A
|
rs1351891195
|
0.00001
|
|
NM_000186.4(CFH):c.2784C>A (p.Gly928=)
|
rs755926856
|
0.00001
|
|
NM_000187.4(HGD):c.307C>A (p.Pro103Thr)
|
rs559502955
|
0.00001
|
|
NM_000188.3(HK1):c.2304C>T (p.Phe768=)
|
rs770824752
|
0.00001
|
|
NM_000188.3(HK1):c.840G>A (p.Glu280=)
|
rs1218129705
|
0.00001
|
|
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=)
|
rs200189529
|
0.00001
|
|
NM_000191.3(HMGCL):c.624G>A (p.Val208=)
|
rs747724373
|
0.00001
|
|
NM_000199.5(SGSH):c.1035C>T (p.Gly345=)
|
rs748069998
|
0.00001
|
|
NM_000199.5(SGSH):c.1455C>T (p.Gly485=)
|
rs757563981
|
0.00001
|
|
NM_000199.5(SGSH):c.258T>C (p.Asn86=)
|
rs1425717342
|
0.00001
|
|
NM_000199.5(SGSH):c.355+9C>T
|
rs746912493
|
0.00001
|
|
NM_000199.5(SGSH):c.356-6G>A
|
rs764808311
|
0.00001
|
|
NM_000199.5(SGSH):c.681C>A (p.Pro227=)
|
rs2041774244
|
0.00001
|
|
NM_000199.5(SGSH):c.75A>C (p.Ala25=)
|
rs1262969566
|
0.00001
|
|
NM_000199.5(SGSH):c.798A>G (p.Thr266=)
|
rs199562202
|
0.00001
|
|
NM_000199.5(SGSH):c.813G>A (p.Thr271=)
|
rs779676466
|
0.00001
|
|
NM_000199.5(SGSH):c.88+8C>T
|
rs75720127
|
0.00001
|
|
NM_000199.5(SGSH):c.93T>C (p.Asp31=)
|
rs982161788
|
0.00001
|
|
NM_000199.5(SGSH):c.942C>T (p.Ser314=)
|
rs759810426
|
0.00001
|
|
NM_000203.5(IDUA):c.1186C>T (p.Leu396=)
|
rs1011474273
|
0.00001
|
|
NM_000203.5(IDUA):c.1398C>T (p.Gly466=)
|
rs1370338557
|
0.00001
|
|
NM_000203.5(IDUA):c.1403-11A>G
|
rs1335436961
|
0.00001
|
|
NM_000203.5(IDUA):c.245A>C (p.His82Pro)
|
rs794727239
|
0.00001
|
|
NM_000203.5(IDUA):c.249C>T (p.Arg83=)
|
rs765563471
|
0.00001
|
|
NM_000203.5(IDUA):c.357C>T (p.Asp119=)
|
rs1262464994
|
0.00001
|
|
NM_000203.5(IDUA):c.972+8G>A
|
rs774327124
|
0.00001
|
|
NM_000206.3(IL2RG):c.311A>T (p.His104Leu)
|
rs770804846
|
0.00001
|
|
NM_000206.3(IL2RG):c.406C>T (p.Arg136Trp)
|
rs758080286
|
0.00001
|
|
NM_000206.3(IL2RG):c.924+9G>T
|
rs1198550634
|
0.00001
|
|
NM_000211.5(ITGB2):c.1688G>A (p.Arg563His)
|
rs550704811
|
0.00001
|
|
NM_000211.5(ITGB2):c.2247+10C>T
|
rs147248229
|
0.00001
|
|
NM_000211.5(ITGB2):c.328+14C>T
|
rs780089604
|
0.00001
|
|
NM_000211.5(ITGB2):c.432G>A (p.Arg144=)
|
rs886057119
|
0.00001
|
|
NM_000212.3(ITGB3):c.201G>A (p.Lys67=)
|
rs780479441
|
0.00001
|
|
NM_000214.3(JAG1):c.1101C>T (p.Thr367=)
|
rs766771784
|
0.00001
|
|
NM_000214.3(JAG1):c.1117A>G (p.Thr373Ala)
|
rs1212026437
|
0.00001
|
|
NM_000214.3(JAG1):c.1308C>T (p.Cys436=)
|
rs764485729
|
0.00001
|
|
NM_000214.3(JAG1):c.1704C>T (p.Arg568=)
|
rs144985667
|
0.00001
|
|
NM_000214.3(JAG1):c.1866G>A (p.Thr622=)
|
rs140624746
|
0.00001
|
|
NM_000214.3(JAG1):c.1971C>T (p.Asp657=)
|
rs368661822
|
0.00001
|
|
NM_000214.3(JAG1):c.2148C>T (p.Asn716=)
|
rs550565756
|
0.00001
|
|
NM_000214.3(JAG1):c.2817C>T (p.Ser939=)
|
rs1180418350
|
0.00001
|
|
NM_000214.3(JAG1):c.3297G>A (p.Pro1099=)
|
rs748849177
|
0.00001
|
|
NM_000214.3(JAG1):c.3342C>T (p.Asn1114=)
|
rs759853433
|
0.00001
|
|
NM_000214.3(JAG1):c.702C>T (p.Cys234=)
|
rs202109974
|
0.00001
|
|
NM_000214.3(JAG1):c.74G>A (p.Arg25Gln)
|
rs1265642949
|
0.00001
|
|
NM_000214.3(JAG1):c.915G>A (p.Pro305=)
|
rs371165309
|
0.00001
|
|
NM_000216.4(ANOS1):c.1536G>A (p.Lys512=)
|
rs1449749900
|
0.00001
|
|
NM_000217.3(KCNA1):c.1086T>C (p.Ala362=)
|
rs1264032724
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1198C>G (p.Pro400Ala)
|
rs1489132337
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1348G>A (p.Glu450Lys)
|
rs148266527
|
0.00001
|
|
NM_000218.3(KCNQ1):c.514G>A (p.Val172Met)
|
rs199472694
|
0.00001
|
|
NM_000218.3(KCNQ1):c.684-5C>T
|
rs1212611138
|
0.00001
|
|
NM_000222.3(KIT):c.2118T>G (p.Leu706=)
|
rs766840704
|
0.00001
|
|
NM_000222.3(KIT):c.2562C>G (p.Ser854=)
|
rs750039813
|
0.00001
|
|
NM_000222.3(KIT):c.2670C>T (p.Leu890=)
|
rs745967881
|
0.00001
|
|
NM_000228.3(LAMB3):c.1455G>A (p.Pro485=)
|
rs1033335294
|
0.00001
|
|
NM_000231.3(SGCG):c.1-8C>T
|
rs745599370
|
0.00001
|
|
NM_000231.3(SGCG):c.267A>G (p.Pro89=)
|
rs149595403
|
0.00001
|
|
NM_000235.4(LIPA):c.1026G>A (p.Gly342=)
|
rs550415126
|
0.00001
|
|
NM_000235.4(LIPA):c.1056C>T (p.Asp352=)
|
rs1564748504
|
0.00001
|
|
NM_000235.4(LIPA):c.1128C>T (p.Asp376=)
|
rs200420117
|
0.00001
|
|
NM_000235.4(LIPA):c.279T>C (p.Ser93=)
|
rs1011619050
|
0.00001
|
|
NM_000235.4(LIPA):c.318C>T (p.Phe106=)
|
rs1438679981
|
0.00001
|
|
NM_000235.4(LIPA):c.870G>A (p.Val290=)
|
rs756950169
|
0.00001
|
|
NM_000238.4(KCNH2):c.1128+1810C>T
|
rs972201049
|
0.00001
|
|
NM_000238.4(KCNH2):c.1128+1860C>T
|
rs767264288
|
0.00001
|
|
NM_000238.4(KCNH2):c.1946-8G>A
|
rs1384850938
|
0.00001
|
|
NM_000238.4(KCNH2):c.2398+25G>T
|
rs761167679
|
0.00001
|
|
NM_000238.4(KCNH2):c.2398+98G>A
|
rs545247794
|
0.00001
|
|
NM_000238.4(KCNH2):c.2765G>A (p.Arg922Gln)
|
rs199473439
|
0.00001
|
|
NM_000238.4(KCNH2):c.3079C>A (p.Leu1027Ile)
|
rs794728346
|
0.00001
|
|
NM_000238.4(KCNH2):c.3448C>A (p.Leu1150Met)
|
rs754883792
|
0.00001
|
|
NM_000238.4(KCNH2):c.473-5C>T
|
rs1181633993
|
0.00001
|
|
NM_000238.4(KCNH2):c.736G>T (p.Gly246Cys)
|
rs1057520689
|
0.00001
|
|
NM_000243.3(MEFV):c.1091C>T (p.Pro364Leu)
|
rs104895214
|
0.00001
|
|
NM_000243.3(MEFV):c.1401G>A (p.Glu467=)
|
rs1398639205
|
0.00001
|
|
NM_000243.3(MEFV):c.1455G>A (p.Glu485=)
|
rs958054431
|
0.00001
|
|
NM_000243.3(MEFV):c.1485G>A (p.Arg495=)
|
rs1012455878
|
0.00001
|
|
NM_000243.3(MEFV):c.149C>T (p.Pro50Leu)
|
rs144716190
|
0.00001
|
|
NM_000243.3(MEFV):c.1643C>A (p.Thr548Asn)
|
rs550970304
|
0.00001
|
|
NM_000243.3(MEFV):c.1899G>A (p.Pro633=)
|
rs776315170
|
0.00001
|
|
NM_000243.3(MEFV):c.2169C>T (p.Asp723=)
|
rs104895117
|
0.00001
|
|
NM_000243.3(MEFV):c.2314A>G (p.Ile772Val)
|
rs104895163
|
0.00001
|
|
NM_000243.3(MEFV):c.30G>A (p.Leu10=)
|
rs553819712
|
0.00001
|
|
NM_000243.3(MEFV):c.405C>T (p.Tyr135=)
|
rs766323718
|
0.00001
|
|
NM_000243.3(MEFV):c.411C>T (p.Gly137=)
|
rs1266277814
|
0.00001
|
|
NM_000243.3(MEFV):c.422G>T (p.Ser141Ile)
|
rs104895130
|
0.00001
|
|
NM_000243.3(MEFV):c.426G>C (p.Leu142=)
|
rs1465332482
|
0.00001
|
|
NM_000243.3(MEFV):c.443A>T (p.Glu148Val)
|
rs104895076
|
0.00001
|
|
NM_000243.3(MEFV):c.48G>A (p.Leu16=)
|
rs777381107
|
0.00001
|
|
NM_000243.3(MEFV):c.540G>C (p.Pro180=)
|
rs104895139
|
0.00001
|
|
NM_000243.3(MEFV):c.651G>C (p.Ala217=)
|
rs886051971
|
0.00001
|
|
NM_000243.3(MEFV):c.66G>A (p.Glu22=)
|
rs569040282
|
0.00001
|
|
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)
|
rs104895080
|
0.00001
|
|
NM_000243.3(MEFV):c.786T>C (p.Thr262=)
|
rs575521131
|
0.00001
|
|
NM_000243.3(MEFV):c.801A>G (p.Thr267=)
|
rs141455838
|
0.00001
|
|
NM_000243.3(MEFV):c.985C>T (p.Arg329Cys)
|
rs757216434
|
0.00001
|
|
NM_000245.4(MET):c.1699A>G (p.Lys567Glu)
|
rs769592729
|
0.00001
|
|
NM_000245.4(MET):c.1719A>G (p.Ala573=)
|
rs199776656
|
0.00001
|
|
NM_000245.4(MET):c.331G>A (p.Val111Ile)
|
rs368750834
|
0.00001
|
|
NM_000245.4(MET):c.3864C>T (p.Asn1288=)
|
rs768627036
|
0.00001
|
|
NM_000245.4(MET):c.62G>A (p.Arg21Lys)
|
rs964356368
|
0.00001
|
|
NM_000246.4(CIITA):c.1149C>T (p.Ala383=)
|
rs748867171
|
0.00001
|
|
NM_000246.4(CIITA):c.1635C>G (p.Leu545=)
|
rs748330320
|
0.00001
|
|
NM_000246.4(CIITA):c.200-9T>C
|
rs778238111
|
0.00001
|
|
NM_000246.4(CIITA):c.2139G>A (p.Leu713=)
|
rs1319022837
|
0.00001
|
|
NM_000246.4(CIITA):c.2256G>A (p.Glu752=)
|
rs200577013
|
0.00001
|
|
NM_000246.4(CIITA):c.2709G>A (p.Gly903=)
|
rs755515727
|
0.00001
|
|
NM_000246.4(CIITA):c.2994G>A (p.Lys998=)
|
rs1286058878
|
0.00001
|
|
NM_000246.4(CIITA):c.3088C>T (p.Leu1030=)
|
rs763766993
|
0.00001
|
|
NM_000246.4(CIITA):c.3149+11C>T
|
rs371453398
|
0.00001
|
|
NM_000246.4(CIITA):c.3233+7G>A
|
rs765558693
|
0.00001
|
|
NM_000246.4(CIITA):c.436+9del
|
rs1567398077
|
0.00001
|
|
NM_000249.4(MLH1):c.*3A>G
|
rs587778880
|
0.00001
|
|
NM_000249.4(MLH1):c.1007G>A (p.Gly336Asp)
|
rs587781750
|
0.00001
|
|
NM_000249.4(MLH1):c.1103C>T (p.Ser368Leu)
|
rs201673334
|
0.00001
|
|
NM_000249.4(MLH1):c.116+8G>A
|
rs904872305
|
0.00001
|
|
NM_000249.4(MLH1):c.1344G>T (p.Glu448Asp)
|
rs587779952
|
0.00001
|
|
NM_000249.4(MLH1):c.1359G>C (p.Lys453Asn)
|
rs756099600
|
0.00001
|
|
NM_000249.4(MLH1):c.1401C>T (p.Ser467=)
|
rs587778910
|
0.00001
|
|
NM_000249.4(MLH1):c.1415G>A (p.Arg472Lys)
|
rs63750498
|
0.00001
|
|
NM_000249.4(MLH1):c.1421G>A (p.Arg474Gln)
|
rs63751083
|
0.00001
|
|
NM_000249.4(MLH1):c.1447G>A (p.Glu483Lys)
|
rs774236450
|
0.00001
|
|
NM_000249.4(MLH1):c.1460G>A (p.Arg487Gln)
|
rs587778917
|
0.00001
|
|
NM_000249.4(MLH1):c.1541A>G (p.Asn514Ser)
|
rs772245091
|
0.00001
|
|
NM_000249.4(MLH1):c.1558+10C>T
|
rs765913871
|
0.00001
|
|
NM_000249.4(MLH1):c.1558+4C>T
|
rs531873434
|
0.00001
|
|
NM_000249.4(MLH1):c.1675C>A (p.Leu559Met)
|
rs780221881
|
0.00001
|
|
NM_000249.4(MLH1):c.1731+8T>C
|
rs370108219
|
0.00001
|
|
NM_000249.4(MLH1):c.1770A>C (p.Leu590Phe)
|
rs769239969
|
0.00001
|
|
NM_000249.4(MLH1):c.1775G>C (p.Ser592Thr)
|
rs587782621
|
0.00001
|
|
NM_000249.4(MLH1):c.1896+7C>T
|
rs863224339
|
0.00001
|
|
NM_000249.4(MLH1):c.1897-3C>T
|
rs748763466
|
0.00001
|
|
NM_000249.4(MLH1):c.1897-7C>T
|
rs373078652
|
0.00001
|
|
NM_000249.4(MLH1):c.1990-6G>A
|
rs117221851
|
0.00001
|
|
NM_000249.4(MLH1):c.2094A>G (p.Ser698=)
|
rs786202433
|
0.00001
|
|
NM_000249.4(MLH1):c.2135G>T (p.Trp712Leu)
|
rs63750561
|
0.00001
|
|
NM_000249.4(MLH1):c.2162A>G (p.Tyr721Cys)
|
rs587778986
|
0.00001
|
|
NM_000249.4(MLH1):c.222T>C (p.Asp74=)
|
rs755073786
|
0.00001
|
|
NM_000249.4(MLH1):c.306+3A>G
|
rs267607731
|
0.00001
|
|
NM_000249.4(MLH1):c.306+4A>G
|
rs267607733
|
0.00001
|
|
NM_000249.4(MLH1):c.30G>T (p.Arg10=)
|
rs876660759
|
0.00001
|
|
NM_000249.4(MLH1):c.454-6G>A
|
rs781238673
|
0.00001
|
|
NM_000249.4(MLH1):c.513A>G (p.Glu171=)
|
rs779148982
|
0.00001
|
|
NM_000249.4(MLH1):c.563C>T (p.Ala188Val)
|
rs777971431
|
0.00001
|
|
NM_000249.4(MLH1):c.682C>A (p.Leu228Met)
|
rs751628735
|
0.00001
|
|
NM_000249.4(MLH1):c.704A>T (p.Asp235Val)
|
rs587781505
|
0.00001
|
|
NM_000249.4(MLH1):c.778C>T (p.Leu260Phe)
|
rs63750642
|
0.00001
|
|
NM_000249.4(MLH1):c.887T>C (p.Leu296Ser)
|
rs63750547
|
0.00001
|
|
NM_000251.3(MSH2):c.-9G>C
|
rs547444746
|
0.00001
|
|
NM_000251.3(MSH2):c.100G>A (p.Val34Met)
|
rs1064793541
|
0.00001
|
|
NM_000251.3(MSH2):c.105C>A (p.Arg35=)
|
rs775554736
|
0.00001
|
|
NM_000251.3(MSH2):c.1076+12G>C
|
rs755616171
|
0.00001
|
|
NM_000251.3(MSH2):c.10C>A (p.Gln4Lys)
|
rs878853797
|
0.00001
|
|
NM_000251.3(MSH2):c.1114T>G (p.Leu372Val)
|
rs770201760
|
0.00001
|
|
NM_000251.3(MSH2):c.1124C>T (p.Thr375Ile)
|
rs774539871
|
0.00001
|
|
NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg)
|
rs776174711
|
0.00001
|
|
NM_000251.3(MSH2):c.1148G>A (p.Arg383Gln)
|
rs376934727
|
0.00001
|
|
NM_000251.3(MSH2):c.1154C>T (p.Pro385Leu)
|
rs564736113
|
0.00001
|
|
NM_000251.3(MSH2):c.115C>A (p.Arg39=)
|
rs786202334
|
0.00001
|
|
NM_000251.3(MSH2):c.1171G>A (p.Ala391Thr)
|
rs878853798
|
0.00001
|
|
NM_000251.3(MSH2):c.118G>A (p.Gly40Ser)
|
rs63751260
|
0.00001
|
|
NM_000251.3(MSH2):c.11A>T (p.Gln4Leu)
|
rs754562075
|
0.00001
|
|
NM_000251.3(MSH2):c.121G>T (p.Asp41Tyr)
|
rs878853799
|
0.00001
|
|
NM_000251.3(MSH2):c.123C>G (p.Asp41Glu)
|
rs761960690
|
0.00001
|
|
NM_000251.3(MSH2):c.1253T>C (p.Ile418Thr)
|
rs786202303
|
0.00001
|
|
NM_000251.3(MSH2):c.1254A>G (p.Ile418Met)
|
rs751431238
|
0.00001
|
|
NM_000251.3(MSH2):c.1267A>G (p.Lys423Glu)
|
rs201059765
|
0.00001
|
|
NM_000251.3(MSH2):c.1270C>T (p.His424Tyr)
|
rs587782278
|
0.00001
|
|
NM_000251.3(MSH2):c.1294T>C (p.Leu432=)
|
rs937218360
|
0.00001
|
|
NM_000251.3(MSH2):c.1301C>T (p.Ala434Val)
|
rs768070717
|
0.00001
|
|
NM_000251.3(MSH2):c.1316C>T (p.Pro439Leu)
|
rs771789692
|
0.00001
|
|
NM_000251.3(MSH2):c.1347G>C (p.Lys449Asn)
|
rs587781331
|
0.00001
|
|
NM_000251.3(MSH2):c.1358T>C (p.Met453Thr)
|
rs63750697
|
0.00001
|
|
NM_000251.3(MSH2):c.1360A>G (p.Ile454Val)
|
rs587781627
|
0.00001
|
|
NM_000251.3(MSH2):c.1361T>C (p.Ile454Thr)
|
rs1060502025
|
0.00001
|
|
NM_000251.3(MSH2):c.1378A>G (p.Met460Val)
|
rs575905950
|
0.00001
|
|
NM_000251.3(MSH2):c.1379T>C (p.Met460Thr)
|
rs1553361303
|
0.00001
|
|
NM_000251.3(MSH2):c.1418C>T (p.Ser473Leu)
|
rs63751403
|
0.00001
|
|
NM_000251.3(MSH2):c.1462T>G (p.Leu488Val)
|
rs587781314
|
0.00001
|
|
NM_000251.3(MSH2):c.1478A>T (p.Gln493Leu)
|
rs376990143
|
0.00001
|
|
NM_000251.3(MSH2):c.1480T>C (p.Ser494Pro)
|
rs55653533
|
0.00001
|
|
NM_000251.3(MSH2):c.1484C>T (p.Thr495Ile)
|
rs756516114
|
0.00001
|
|
NM_000251.3(MSH2):c.1489A>G (p.Ile497Val)
|
rs755501968
|
0.00001
|
|
NM_000251.3(MSH2):c.1502G>A (p.Arg501Lys)
|
rs376677710
|
0.00001
|
|
NM_000251.3(MSH2):c.1582A>C (p.Lys528Gln)
|
rs199744440
|
0.00001
|
|
NM_000251.3(MSH2):c.1622C>T (p.Thr541Ile)
|
rs864622079
|
0.00001
|
|
NM_000251.3(MSH2):c.163C>G (p.Arg55Gly)
|
rs587782354
|
0.00001
|
|
NM_000251.3(MSH2):c.164G>A (p.Arg55Gln)
|
rs748196422
|
0.00001
|
|
NM_000251.3(MSH2):c.1729A>G (p.Ile577Val)
|
rs774985655
|
0.00001
|
|
NM_000251.3(MSH2):c.1760-10T>A
|
rs767536391
|
0.00001
|
|
NM_000251.3(MSH2):c.1760-3C>T
|
rs786202843
|
0.00001
|
|
NM_000251.3(MSH2):c.177G>C (p.Lys59Asn)
|
rs1449905909
|
0.00001
|
|
NM_000251.3(MSH2):c.1792G>A (p.Val598Met)
|
rs778152746
|
0.00001
|
|
NM_000251.3(MSH2):c.1796T>C (p.Leu599Ser)
|
rs747504492
|
0.00001
|
|
NM_000251.3(MSH2):c.1802A>G (p.Gln601Arg)
|
rs779447213
|
0.00001
|
|
NM_000251.3(MSH2):c.1804C>G (p.Leu602Val)
|
rs748797209
|
0.00001
|
|
NM_000251.3(MSH2):c.1825G>T (p.Ala609Ser)
|
rs150980616
|
0.00001
|
|
NM_000251.3(MSH2):c.1894A>G (p.Ile632Val)
|
rs1301770111
|
0.00001
|
|
NM_000251.3(MSH2):c.1898T>C (p.Ile633Thr)
|
rs864622093
|
0.00001
|
|
NM_000251.3(MSH2):c.1907C>T (p.Ala636Val)
|
rs63750279
|
0.00001
|
|
NM_000251.3(MSH2):c.1927G>A (p.Glu643Lys)
|
rs374840361
|
0.00001
|
|
NM_000251.3(MSH2):c.1933C>G (p.Gln645Glu)
|
rs267607982
|
0.00001
|
|
NM_000251.3(MSH2):c.1967A>G (p.Tyr656Cys)
|
rs185356145
|
0.00001
|
|
NM_000251.3(MSH2):c.199A>G (p.Met67Val)
|
rs768824654
|
0.00001
|
|
NM_000251.3(MSH2):c.2006-4G>A
|
rs369853630
|
0.00001
|
|
NM_000251.3(MSH2):c.2038C>G (p.Arg680Gly)
|
rs63749932
|
0.00001
|
|
NM_000251.3(MSH2):c.2048G>T (p.Gly683Val)
|
rs755920849
|
0.00001
|
|
NM_000251.3(MSH2):c.2102A>C (p.Glu701Ala)
|
rs876659187
|
0.00001
|
|
NM_000251.3(MSH2):c.2110A>G (p.Ile704Val)
|
rs730881764
|
0.00001
|
|
NM_000251.3(MSH2):c.2111T>C (p.Ile704Thr)
|
rs564657106
|
0.00001
|
|
NM_000251.3(MSH2):c.212-3A>T
|
rs879255341
|
0.00001
|
|
NM_000251.3(MSH2):c.2129C>G (p.Ala710Gly)
|
rs373717132
|
0.00001
|
|
NM_000251.3(MSH2):c.2164G>A (p.Val722Ile)
|
rs587781996
|
0.00001
|
|
NM_000251.3(MSH2):c.2187G>A (p.Met729Ile)
|
rs587779141
|
0.00001
|
|
NM_000251.3(MSH2):c.2197G>A (p.Ala733Thr)
|
rs772662439
|
0.00001
|
|
NM_000251.3(MSH2):c.220A>C (p.Asn74His)
|
rs150548839
|
0.00001
|
|
NM_000251.3(MSH2):c.2211-7G>A
|
rs764972956
|
0.00001
|
|
NM_000251.3(MSH2):c.2224G>A (p.Asp742Asn)
|
rs879254183
|
0.00001
|
|
NM_000251.3(MSH2):c.2296A>G (p.Ile766Val)
|
rs374399939
|
0.00001
|
|
NM_000251.3(MSH2):c.2315C>G (p.Thr772Arg)
|
rs1263286428
|
0.00001
|
|
NM_000251.3(MSH2):c.2387C>T (p.Thr796Ile)
|
rs863224641
|
0.00001
|
|
NM_000251.3(MSH2):c.2437A>G (p.Met813Val)
|
rs63749841
|
0.00001
|
|
NM_000251.3(MSH2):c.2439G>A (p.Met813Ile)
|
rs587781678
|
0.00001
|
|
NM_000251.3(MSH2):c.2447A>G (p.Gln816Arg)
|
rs768572053
|
0.00001
|
|
NM_000251.3(MSH2):c.2458+4T>C
|
rs1038735071
|
0.00001
|
|
NM_000251.3(MSH2):c.2459-12A>C
|
rs267608012
|
0.00001
|
|
NM_000251.3(MSH2):c.2504A>G (p.Asn835Ser)
|
rs779729016
|
0.00001
|
|
NM_000251.3(MSH2):c.2525A>T (p.Glu842Val)
|
rs373393954
|
0.00001
|
|
NM_000251.3(MSH2):c.2542G>T (p.Ala848Ser)
|
rs746972142
|
0.00001
|
|
NM_000251.3(MSH2):c.2554G>C (p.Glu852Gln)
|
rs587779966
|
0.00001
|
|
NM_000251.3(MSH2):c.2564A>G (p.Gln855Arg)
|
rs587782256
|
0.00001
|
|
NM_000251.3(MSH2):c.2579C>T (p.Ser860Leu)
|
rs63750849
|
0.00001
|
|
NM_000251.3(MSH2):c.2593A>G (p.Ile865Val)
|
rs1013401625
|
0.00001
|
|
NM_000251.3(MSH2):c.2594T>C (p.Ile865Thr)
|
rs549759248
|
0.00001
|
|
NM_000251.3(MSH2):c.2606C>A (p.Ala869Glu)
|
rs730881772
|
0.00001
|
|
NM_000251.3(MSH2):c.2640T>C (p.Gly880=)
|
rs1368565489
|
0.00001
|
|
NM_000251.3(MSH2):c.2798C>T (p.Thr933Ile)
|
rs587779968
|
0.00001
|
|
NM_000251.3(MSH2):c.319G>C (p.Ala107Pro)
|
rs587779158
|
0.00001
|
|
NM_000251.3(MSH2):c.366+4A>C
|
rs876659880
|
0.00001
|
|
NM_000251.3(MSH2):c.413A>G (p.Asn138Ser)
|
rs769154205
|
0.00001
|
|
NM_000251.3(MSH2):c.422T>C (p.Met141Thr)
|
rs768313658
|
0.00001
|
|
NM_000251.3(MSH2):c.437G>T (p.Gly146Val)
|
rs772052262
|
0.00001
|
|
NM_000251.3(MSH2):c.544G>T (p.Asp182Tyr)
|
rs730881770
|
0.00001
|
|
NM_000251.3(MSH2):c.547C>A (p.Gln183Lys)
|
rs63750037
|
0.00001
|
|
NM_000251.3(MSH2):c.566C>G (p.Ala189Gly)
|
rs141021599
|
0.00001
|
|
NM_000251.3(MSH2):c.5C>T (p.Ala2Val)
|
rs587778521
|
0.00001
|
|
NM_000251.3(MSH2):c.605C>T (p.Pro202Leu)
|
rs1060502002
|
0.00001
|
|
NM_000251.3(MSH2):c.610G>A (p.Gly204Arg)
|
rs63750574
|
0.00001
|
|
NM_000251.3(MSH2):c.613G>C (p.Glu205Gln)
|
rs63749984
|
0.00001
|
|
NM_000251.3(MSH2):c.62G>T (p.Arg21Leu)
|
rs730881760
|
0.00001
|
|
NM_000251.3(MSH2):c.631G>A (p.Gly211Arg)
|
rs587780689
|
0.00001
|
|
NM_000251.3(MSH2):c.641G>T (p.Arg214Ile)
|
rs763298811
|
0.00001
|
|
NM_000251.3(MSH2):c.645+3A>G
|
rs587779168
|
0.00001
|
|
NM_000251.3(MSH2):c.646-3T>C
|
rs267607930
|
0.00001
|
|
NM_000251.3(MSH2):c.700A>G (p.Thr234Ala)
|
rs1212577306
|
0.00001
|
|
NM_000251.3(MSH2):c.701C>T (p.Thr234Ile)
|
rs730881773
|
0.00001
|
|
NM_000251.3(MSH2):c.709A>G (p.Ile237Val)
|
rs63751307
|
0.00001
|
|
NM_000251.3(MSH2):c.715C>G (p.Gln239Glu)
|
rs63750488
|
0.00001
|
|
NM_000251.3(MSH2):c.725A>G (p.Asn242Ser)
|
rs779051492
|
0.00001
|
|
NM_000251.3(MSH2):c.728G>A (p.Arg243Gln)
|
rs63751455
|
0.00001
|
|
NM_000251.3(MSH2):c.72G>C (p.Gln24His)
|
rs1064794928
|
0.00001
|
|
NM_000251.3(MSH2):c.742A>G (p.Lys248Glu)
|
rs587779178
|
0.00001
|
|
NM_000251.3(MSH2):c.755A>G (p.Gln252Arg)
|
rs370906735
|
0.00001
|
|
NM_000251.3(MSH2):c.763A>G (p.Ser255Gly)
|
rs761529282
|
0.00001
|
|
NM_000251.3(MSH2):c.775C>T (p.Pro259Ser)
|
rs587781294
|
0.00001
|
|
NM_000251.3(MSH2):c.803C>T (p.Ser268Leu)
|
rs563410947
|
0.00001
|
|
NM_000251.3(MSH2):c.816G>A (p.Ala272=)
|
rs368912987
|
0.00001
|
|
NM_000251.3(MSH2):c.951T>A (p.Val317=)
|
rs1553353105
|
0.00001
|
|
NM_000251.3(MSH2):c.956A>T (p.Asp319Val)
|
rs786204185
|
0.00001
|
|
NM_000251.3(MSH2):c.972G>A (p.Gln324=)
|
rs63750505
|
0.00001
|
|
NM_000251.3(MSH2):c.982G>C (p.Ala328Pro)
|
rs753237286
|
0.00001
|
|
NM_000251.3(MSH2):c.992A>G (p.Asn331Ser)
|
rs779673318
|
0.00001
|
|
NM_000254.3(MTR):c.181A>C (p.Arg61=)
|
rs886046217
|
0.00001
|
|
NM_000254.3(MTR):c.34+10C>T
|
rs376679817
|
0.00001
|
|
NM_000255.4(MMUT):c.1476C>T (p.Tyr492=)
|
rs779301267
|
0.00001
|
|
NM_000255.4(MMUT):c.1494C>T (p.Asp498=)
|
rs752651149
|
0.00001
|
|
NM_000255.4(MMUT):c.1659G>A (p.Val553=)
|
rs764316430
|
0.00001
|
|
NM_000255.4(MMUT):c.2082G>A (p.Arg694=)
|
rs752705830
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1038C>T (p.Arg346=)
|
rs758016271
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1070G>A (p.Arg357His)
|
rs199741162
|
0.00001
|
|
NM_000256.3(MYBPC3):c.148A>G (p.Ser50Gly)
|
rs373164247
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1664T>C (p.Met555Thr)
|
rs730880692
|
0.00001
|
|
NM_000256.3(MYBPC3):c.166G>A (p.Gly56Ser)
|
rs397515918
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2034T>C (p.Ala678=)
|
rs757832991
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2309-4C>T
|
rs942669152
|
0.00001
|
|
NM_000256.3(MYBPC3):c.284T>C (p.Ile95Thr)
|
rs727504945
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2962G>A (p.Gly988Arg)
|
rs779781718
|
0.00001
|
|
NM_000256.3(MYBPC3):c.2995-5C>G
|
rs376083315
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3058A>G (p.Ser1020Gly)
|
rs2095879641
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3362G>A (p.Arg1121His)
|
rs397516018
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3379C>T (p.Pro1127Ser)
|
rs1488618086
|
0.00001
|
|
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr)
|
rs727503167
|
0.00001
|
|
NM_000256.3(MYBPC3):c.408G>C (p.Gly136=)
|
rs1057520977
|
0.00001
|
|
NM_000256.3(MYBPC3):c.418G>C (p.Ala140Pro)
|
rs730880614
|
0.00001
|
|
NM_000256.3(MYBPC3):c.651C>T (p.Ser217=)
|
rs1199611247
|
0.00001
|
|
NM_000257.4(MYH7):c.1749C>T (p.Ala583=)
|
rs758665829
|
0.00001
|
|
NM_000257.4(MYH7):c.2472C>T (p.Val824=)
|
rs397516150
|
0.00001
|
|
NM_000257.4(MYH7):c.2692C>T (p.Leu898=)
|
rs727504407
|
0.00001
|
|
NM_000257.4(MYH7):c.3147G>A (p.Glu1049=)
|
rs1216521596
|
0.00001
|
|
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp)
|
rs192722540
|
0.00001
|
|
NM_000257.4(MYH7):c.3551A>T (p.Gln1184Leu)
|
rs546586969
|
0.00001
|
|
NM_000257.4(MYH7):c.3801G>C (p.Gln1267His)
|
rs200000290
|
0.00001
|
|
NM_000257.4(MYH7):c.3934C>T (p.Leu1312=)
|
rs886050419
|
0.00001
|
|
NM_000257.4(MYH7):c.3975G>A (p.Ala1325=)
|
rs1424491117
|
0.00001
|
|
NM_000257.4(MYH7):c.4520-3C>T
|
rs549509054
|
0.00001
|
|
NM_000257.4(MYH7):c.4644+3G>A
|
rs397516226
|
0.00001
|
|
NM_000257.4(MYH7):c.4659C>T (p.His1553=)
|
rs570079347
|
0.00001
|
|
NM_000257.4(MYH7):c.4680G>A (p.Arg1560=)
|
rs771236158
|
0.00001
|
|
NM_000257.4(MYH7):c.4689G>A (p.Leu1563=)
|
rs770477774
|
0.00001
|
|
NM_000257.4(MYH7):c.4787C>T (p.Ser1596Leu)
|
rs774540446
|
0.00001
|
|
NM_000257.4(MYH7):c.4992C>T (p.Asn1664=)
|
rs763538103
|
0.00001
|
|
NM_000257.4(MYH7):c.5178G>A (p.Gln1726=)
|
rs747252861
|
0.00001
|
|
NM_000257.4(MYH7):c.5328C>T (p.Ser1776=)
|
rs765263589
|
0.00001
|
|
NM_000257.4(MYH7):c.5519T>C (p.Met1840Thr)
|
rs149193520
|
0.00001
|
|
NM_000258.3(MYL3):c.220G>A (p.Gly74Arg)
|
rs730880956
|
0.00001
|
|
NM_000260.4(MYO7A):c.1056G>A (p.Leu352=)
|
rs886044867
|
0.00001
|
|
NM_000260.4(MYO7A):c.2025C>T (p.Arg675=)
|
rs797044658
|
0.00001
|
|
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val)
|
rs397516293
|
0.00001
|
|
NM_000260.4(MYO7A):c.2382C>T (p.Phe794=)
|
rs970183279
|
0.00001
|
|
NM_000260.4(MYO7A):c.2487G>A (p.Val829=)
|
rs1452906057
|
0.00001
|
|
NM_000260.4(MYO7A):c.2697G>A (p.Glu899=)
|
rs782531164
|
0.00001
|
|
NM_000260.4(MYO7A):c.3582C>T (p.Leu1194=)
|
rs886044828
|
0.00001
|
|
NM_000260.4(MYO7A):c.359G>A (p.Arg120His)
|
rs369493667
|
0.00001
|
|
NM_000260.4(MYO7A):c.3723A>T (p.Thr1241=)
|
rs767426033
|
0.00001
|
|
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile)
|
rs397516309
|
0.00001
|
|
NM_000260.4(MYO7A):c.4993G>A (p.Asp1665Asn)
|
rs759272365
|
0.00001
|
|
NM_000260.4(MYO7A):c.5029C>T (p.Pro1677Ser)
|
rs535102352
|
0.00001
|
|
NM_000260.4(MYO7A):c.5772C>A (p.Ala1924=)
|
rs749438001
|
0.00001
|
|
NM_000260.4(MYO7A):c.5781C>T (p.Phe1927=)
|
rs1167983525
|
0.00001
|
|
NM_000260.4(MYO7A):c.5969A>G (p.Gln1990Arg)
|
rs560293591
|
0.00001
|
|
NM_000260.4(MYO7A):c.759C>T (p.His253=)
|
rs182220009
|
0.00001
|
|
NM_000262.3(NAGA):c.12G>A (p.Lys4=)
|
rs776865602
|
0.00001
|
|
NM_000262.3(NAGA):c.549C>T (p.Ile183=)
|
rs374984089
|
0.00001
|
|
NM_000264.5(PTCH1):c.1193C>T (p.Ala398Val)
|
rs375098989
|
0.00001
|
|
NM_000264.5(PTCH1):c.1628G>A (p.Arg543His)
|
rs150284288
|
0.00001
|
|
NM_000264.5(PTCH1):c.1653G>A (p.Thr551=)
|
rs766039170
|
0.00001
|
|
NM_000264.5(PTCH1):c.1712G>A (p.Arg571Gln)
|
rs377566861
|
0.00001
|
|
NM_000264.5(PTCH1):c.1837T>C (p.Cys613Arg)
|
rs948568790
|
0.00001
|
|
NM_000264.5(PTCH1):c.1864G>C (p.Val622Leu)
|
rs765258547
|
0.00001
|
|
NM_000264.5(PTCH1):c.2176C>T (p.Pro726Ser)
|
rs758811078
|
0.00001
|
|
NM_000264.5(PTCH1):c.2287G>T (p.Val763Phe)
|
rs544963328
|
0.00001
|
|
NM_000264.5(PTCH1):c.2306C>T (p.Thr769Ile)
|
rs755391704
|
0.00001
|
|
NM_000264.5(PTCH1):c.2460C>T (p.Tyr820=)
|
rs766227557
|
0.00001
|
|
NM_000264.5(PTCH1):c.2558A>G (p.Gln853Arg)
|
rs587778628
|
0.00001
|
|
NM_000264.5(PTCH1):c.329G>C (p.Gly110Ala)
|
rs1060502284
|
0.00001
|
|
NM_000264.5(PTCH1):c.3607A>C (p.Ser1203Arg)
|
rs1564008885
|
0.00001
|
|
NM_000264.5(PTCH1):c.4049G>A (p.Arg1350Gln)
|
rs978722722
|
0.00001
|
|
NM_000264.5(PTCH1):c.777C>T (p.Phe259=)
|
rs750313305
|
0.00001
|
|
NM_000268.4(NF2):c.903C>T (p.Ile301=)
|
rs199957176
|
0.00001
|
|
NM_000271.5(NPC1):c.1088C>T (p.Ala363Val)
|
rs774588125
|
0.00001
|
|
NM_000271.5(NPC1):c.1371T>C (p.Tyr457=)
|
rs779065920
|
0.00001
|
|
NM_000271.5(NPC1):c.2304C>T (p.Val768=)
|
rs183935795
|
0.00001
|
|
NM_000271.5(NPC1):c.2373+14A>G
|
rs771523995
|
0.00001
|
|
NM_000271.5(NPC1):c.2514+7G>A
|
rs764548800
|
0.00001
|
|
NM_000271.5(NPC1):c.3312G>A (p.Val1104=)
|
rs746476066
|
0.00001
|
|
NM_000271.5(NPC1):c.3478-7A>C
|
rs767148121
|
0.00001
|
|
NM_000271.5(NPC1):c.3816C>T (p.Arg1272=)
|
rs375797728
|
0.00001
|
|
NM_000271.5(NPC1):c.57+7G>A
|
rs886042901
|
0.00001
|
|
NM_000271.5(NPC1):c.699G>A (p.Glu233=)
|
rs769468514
|
0.00001
|
|
NM_000273.3(GPR143):c.251-9C>A
|
rs374596288
|
0.00001
|
|
NM_000274.4(OAT):c.606G>A (p.Pro202=)
|
rs369806549
|
0.00001
|
|
NM_000274.4(OAT):c.639C>T (p.Pro213=)
|
rs773314783
|
0.00001
|
|
NM_000275.3(OCA2):c.2473A>T (p.Met825Leu)
|
rs763881975
|
0.00001
|
|
NM_000277.3(PAH):c.198A>G (p.Glu66=)
|
rs117308669
|
0.00001
|
|
NM_000277.3(PAH):c.786C>T (p.Val262=)
|
rs776860902
|
0.00001
|
|
NM_000281.4(PCBD1):c.294A>G (p.Gln98=)
|
rs773744136
|
0.00001
|
|
NM_000282.4(PCCA):c.432A>G (p.Gly144=)
|
rs768756825
|
0.00001
|
|
NM_000282.4(PCCA):c.54G>A (p.Gly18=)
|
rs1373903905
|
0.00001
|
|
NM_000282.4(PCCA):c.762C>T (p.Gly254=)
|
rs758211858
|
0.00001
|
|
NM_000283.4(PDE6B):c.482G>A (p.Ser161Asn)
|
rs574098823
|
0.00001
|
|
NM_000284.4(PDHA1):c.292-23A>G
|
rs1057518702
|
0.00001
|
|
NM_000285.4(PEPD):c.969T>C (p.Gly323=)
|
rs1568445341
|
0.00001
|
|
NM_000287.4(PEX6):c.348C>T (p.Leu116=)
|
rs746578841
|
0.00001
|
|
NM_000288.4(PEX7):c.748-10T>C
|
rs886061122
|
0.00001
|
|
NM_000288.4(PEX7):c.843A>G (p.Thr281=)
|
rs767903764
|
0.00001
|
|
NM_000289.6(PFKM):c.1005A>G (p.Val335=)
|
rs1454843075
|
0.00001
|
|
NM_000289.6(PFKM):c.1242C>G (p.Gly414=)
|
rs886049454
|
0.00001
|
|
NM_000289.6(PFKM):c.864A>G (p.Gly288=)
|
rs1313998695
|
0.00001
|
|
NM_000293.3(PHKB):c.1797+9G>A
|
rs746001808
|
0.00001
|
|
NM_000293.3(PHKB):c.2106C>T (p.Thr702=)
|
rs1248967430
|
0.00001
|
|
NM_000293.3(PHKB):c.2186A>C (p.Gln729Pro)
|
rs573384357
|
0.00001
|
|
NM_000293.3(PHKB):c.2196+14A>G
|
rs751084282
|
0.00001
|
|
NM_000294.3(PHKG2):c.95+11G>A
|
rs886051910
|
0.00001
|
|
NM_000295.5(SERPINA1):c.1065+10C>T
|
rs56388024
|
0.00001
|
|
NM_000295.5(SERPINA1):c.1104G>A (p.Gly368=)
|
rs1378794678
|
0.00001
|
|
NM_000295.5(SERPINA1):c.587T>C (p.Leu196Ser)
|
rs368433503
|
0.00001
|
|
NM_000295.5(SERPINA1):c.646+5_646+6del
|
rs779432340
|
0.00001
|
|
NM_000297.4(PKD2):c.361G>T (p.Gly121Cys)
|
rs371898195
|
0.00001
|
|
NM_000302.4(PLOD1):c.1581C>T (p.Pro527=)
|
rs142934642
|
0.00001
|
|
NM_000302.4(PLOD1):c.2160C>T (p.Ile720=)
|
rs140513387
|
0.00001
|
|
NM_000302.4(PLOD1):c.742-9C>G
|
rs771746998
|
0.00001
|
|
NM_000302.4(PLOD1):c.948A>G (p.Lys316=)
|
rs746354303
|
0.00001
|
|
NM_000303.3(PMM2):c.126A>G (p.Gly42=)
|
rs766984518
|
0.00001
|
|
NM_000304.4(PMP22):c.327C>T (p.Cys109=)
|
rs863225028
|
0.00001
|
|
NM_000310.4(PPT1):c.12C>T (p.Pro4=)
|
rs140289866
|
0.00001
|
|
NM_000312.4(PROC):c.1326C>T (p.Leu442=)
|
rs748650244
|
0.00001
|
|
NM_000312.4(PROC):c.660G>A (p.Arg220=)
|
rs1688487502
|
0.00001
|
|
NM_000312.4(PROC):c.70+13C>G
|
rs200660332
|
0.00001
|
|
NM_000314.8(PTEN):c.1062G>A (p.Pro354=)
|
rs786202751
|
0.00001
|
|
NM_000314.8(PTEN):c.114T>G (p.Pro38=)
|
rs748040144
|
0.00001
|
|
NM_000314.8(PTEN):c.210-9T>C
|
rs751744545
|
0.00001
|
|
NM_000314.8(PTEN):c.253+4G>A
|
rs1060500112
|
0.00001
|
|
NM_000314.8(PTEN):c.527A>G (p.Tyr176Cys)
|
rs757498880
|
0.00001
|
|
NM_000314.8(PTEN):c.78C>T (p.Thr26=)
|
rs786201280
|
0.00001
|
|
NM_000318.3(PEX2):c.524C>G (p.Ser175Cys)
|
rs770427885
|
0.00001
|
|
NM_000318.3(PEX2):c.666A>G (p.Ser222=)
|
rs1806901488
|
0.00001
|
|
NM_000320.3(QDPR):c.147C>T (p.Ser49=)
|
rs758659025
|
0.00001
|
|
NM_000320.3(QDPR):c.444C>T (p.Ile148=)
|
rs754982401
|
0.00001
|
|
NM_000321.3(RB1):c.-149G>T
|
rs1014776340
|
0.00001
|
|
NM_000321.3(RB1):c.1351C>T (p.Arg451Cys)
|
rs759079385
|
0.00001
|
|
NM_000321.3(RB1):c.1667G>A (p.Arg556Gln)
|
rs773116120
|
0.00001
|
|
NM_000321.3(RB1):c.1696-4A>G
|
rs143685082
|
0.00001
|
|
NM_000321.3(RB1):c.2091C>G (p.Asp697Glu)
|
rs3092903
|
0.00001
|
|
NM_000321.3(RB1):c.2289A>T (p.Arg763Ser)
|
rs1167280920
|
0.00001
|
|
NM_000321.3(RB1):c.539C>T (p.Ser180Leu)
|
rs367654488
|
0.00001
|
|
NM_000321.3(RB1):c.784C>T (p.Arg262Trp)
|
rs556201144
|
0.00001
|
|
NM_000322.5(PRPH2):c.299C>T (p.Pro100Leu)
|
rs768400169
|
0.00001
|
|
NM_000330.4(RS1):c.326+1159C>G
|
rs587783160
|
0.00001
|
|
NM_000334.4(SCN4A):c.1575C>T (p.Ser525=)
|
rs376538198
|
0.00001
|
|
NM_000334.4(SCN4A):c.219G>A (p.Pro73=)
|
rs779890709
|
0.00001
|
|
NM_000334.4(SCN4A):c.3019G>A (p.Val1007Met)
|
rs781028684
|
0.00001
|
|
NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys)
|
rs201916531
|
0.00001
|
|
NM_000334.4(SCN4A):c.4667A>G (p.Asn1556Ser)
|
rs751454852
|
0.00001
|
|
NM_000334.4(SCN4A):c.4783G>A (p.Ala1595Thr)
|
rs761947899
|
0.00001
|
|
NM_000334.4(SCN4A):c.4863C>T (p.Tyr1621=)
|
rs769625349
|
0.00001
|
|
NM_000334.4(SCN4A):c.5148G>A (p.Glu1716=)
|
rs1244264430
|
0.00001
|
|
NM_000334.4(SCN4A):c.5457C>T (p.Pro1819=)
|
rs761023866
|
0.00001
|
|
NM_000334.4(SCN4A):c.786C>T (p.Ser262=)
|
rs746749167
|
0.00001
|
|
NM_000334.4(SCN4A):c.858G>A (p.Pro286=)
|
rs560230431
|
0.00001
|
|
NM_000335.5(SCN5A):c.1338+18C>T
|
rs761031894
|
0.00001
|
|
NM_000335.5(SCN5A):c.1345A>G (p.Thr449Ala)
|
rs199473571
|
0.00001
|
|
NM_000335.5(SCN5A):c.1538G>A (p.Arg513His)
|
rs397517951
|
0.00001
|
|
NM_000335.5(SCN5A):c.2013C>T (p.Ser671=)
|
rs751050999
|
0.00001
|
|
NM_000335.5(SCN5A):c.2379C>T (p.Leu793=)
|
rs758397582
|
0.00001
|
|
NM_000335.5(SCN5A):c.2437-3C>T
|
rs1289539591
|
0.00001
|
|
NM_000335.5(SCN5A):c.2497G>A (p.Gly833Arg)
|
rs45475899
|
0.00001
|
|
NM_000335.5(SCN5A):c.2770G>A (p.Val924Ile)
|
rs199473177
|
0.00001
|
|
NM_000335.5(SCN5A):c.2988C>T (p.Ala996=)
|
rs781529391
|
0.00001
|
|
NM_000335.5(SCN5A):c.3301G>A (p.Ala1101Thr)
|
rs1481582794
|
0.00001
|
|
NM_000335.5(SCN5A):c.3456G>C (p.Gln1152His)
|
rs776705132
|
0.00001
|
|
NM_000335.5(SCN5A):c.3509-3T>C
|
rs924305428
|
0.00001
|
|
NM_000335.5(SCN5A):c.393-4G>A
|
rs1390882998
|
0.00001
|
|
NM_000335.5(SCN5A):c.401A>G (p.Asn134Ser)
|
rs879162705
|
0.00001
|
|
NM_000335.5(SCN5A):c.4068G>A (p.Ala1356=)
|
rs187370816
|
0.00001
|
|
NM_000335.5(SCN5A):c.4218C>T (p.Ala1406=)
|
rs373042738
|
0.00001
|
|
NM_000335.5(SCN5A):c.4243-4C>T
|
rs772447988
|
0.00001
|
|
NM_000335.5(SCN5A):c.4812C>T (p.Gly1604=)
|
rs773016454
|
0.00001
|
|
NM_000335.5(SCN5A):c.4824G>A (p.Ser1608=)
|
rs886058460
|
0.00001
|
|
NM_000335.5(SCN5A):c.5218G>A (p.Asp1740Asn)
|
rs746418124
|
0.00001
|
|
NM_000335.5(SCN5A):c.5433G>A (p.Ser1811=)
|
rs780761880
|
0.00001
|
|
NM_000335.5(SCN5A):c.5800G>A (p.Gly1934Ser)
|
rs199473637
|
0.00001
|
|
NM_000335.5(SCN5A):c.6011C>T (p.Pro2004Leu)
|
rs779649600
|
0.00001
|
|
NM_000335.5(SCN5A):c.6047G>A (p.Ter2016=)
|
rs529885772
|
0.00001
|
|
NM_000335.5(SCN5A):c.687T>C (p.Thr229=)
|
rs770390440
|
0.00001
|
|
NM_000335.5(SCN5A):c.703+11G>A
|
rs779138392
|
0.00001
|
|
NM_000335.5(SCN5A):c.857C>T (p.Ala286Val)
|
rs778943853
|
0.00001
|
|
NM_000335.5(SCN5A):c.898G>A (p.Val300Ile)
|
rs199473088
|
0.00001
|
|
NM_000337.6(SGCD):c.193-12G>T
|
rs727503421
|
0.00001
|
|
NM_000337.6(SGCD):c.270C>T (p.Tyr90=)
|
rs749273088
|
0.00001
|
|
NM_000337.6(SGCD):c.45T>A (p.Pro15=)
|
rs727505092
|
0.00001
|
|
NM_000337.6(SGCD):c.768G>A (p.Thr256=)
|
rs376141942
|
0.00001
|
|
NM_000341.4(SLC3A1):c.1269C>T (p.Ser423=)
|
rs557669708
|
0.00001
|
|
NM_000342.4(SLC4A1):c.1181T>C (p.Leu394Pro)
|
rs768426818
|
0.00001
|
|
NM_000342.4(SLC4A1):c.1269C>T (p.Phe423=)
|
rs768727937
|
0.00001
|
|
NM_000342.4(SLC4A1):c.2055C>T (p.Thr685=)
|
rs375136281
|
0.00001
|
|
NM_000343.4(SLC5A1):c.1314C>T (p.Ile438=)
|
rs1229387697
|
0.00001
|
|
NM_000343.4(SLC5A1):c.1716C>T (p.Asp572=)
|
rs1475148938
|
0.00001
|
|
NM_000343.4(SLC5A1):c.208-13T>A
|
rs200261297
|
0.00001
|
|
NM_000343.4(SLC5A1):c.609G>A (p.Thr203=)
|
rs200276021
|
0.00001
|
|
NM_000350.3(ABCA4):c.1082C>A (p.Ser361Tyr)
|
rs748487419
|
0.00001
|
|
NM_000350.3(ABCA4):c.1099+12G>T
|
rs756258615
|
0.00001
|
|
NM_000350.3(ABCA4):c.1821G>A (p.Gly607=)
|
rs201059645
|
0.00001
|
|
NM_000350.3(ABCA4):c.2742C>T (p.His914=)
|
rs1362746093
|
0.00001
|
|
NM_000350.3(ABCA4):c.3096A>G (p.Gly1032=)
|
rs778400379
|
0.00001
|
|
NM_000350.3(ABCA4):c.3576C>T (p.Val1192=)
|
rs187965758
|
0.00001
|
|
NM_000350.3(ABCA4):c.3813+7T>C
|
rs769882474
|
0.00001
|
|
NM_000350.3(ABCA4):c.4329C>T (p.Arg1443=)
|
rs374344839
|
0.00001
|
|
NM_000350.3(ABCA4):c.4407C>T (p.Asn1469=)
|
rs750526487
|
0.00001
|
|
NM_000350.3(ABCA4):c.4518C>T (p.Ala1506=)
|
rs146011912
|
0.00001
|
|
NM_000350.3(ABCA4):c.4573C>T (p.Leu1525=)
|
rs774957381
|
0.00001
|
|
NM_000350.3(ABCA4):c.4593C>T (p.Ser1531=)
|
rs746070443
|
0.00001
|
|
NM_000350.3(ABCA4):c.5593C>T (p.His1865Tyr)
|
rs201707267
|
0.00001
|
|
NM_000350.3(ABCA4):c.769-3C>T
|
rs368010652
|
0.00001
|
|
NM_000352.6(ABCC8):c.1095C>T (p.Ala365=)
|
rs1256418853
|
0.00001
|
|
NM_000352.6(ABCC8):c.1512C>T (p.Arg504=)
|
rs148811815
|
0.00001
|
|
NM_000352.6(ABCC8):c.2209G>A (p.Val737Ile)
|
rs376206979
|
0.00001
|
|
NM_000352.6(ABCC8):c.2256-3C>T
|
rs756328102
|
0.00001
|
|
NM_000352.6(ABCC8):c.2270C>G (p.Thr757Arg)
|
rs757961130
|
0.00001
|
|
NM_000352.6(ABCC8):c.2391-5G>A
|
rs370096884
|
0.00001
|
|
NM_000352.6(ABCC8):c.2391-6C>T
|
rs556416038
|
0.00001
|
|
NM_000352.6(ABCC8):c.255G>A (p.Leu85=)
|
rs1323334420
|
0.00001
|
|
NM_000352.6(ABCC8):c.3224T>C (p.Ile1075Thr)
|
rs745895362
|
0.00001
|
|
NM_000352.6(ABCC8):c.3552G>A (p.Ala1184=)
|
rs144207158
|
0.00001
|
|
NM_000352.6(ABCC8):c.3654T>C (p.Tyr1218=)
|
rs769968875
|
0.00001
|
|
NM_000352.6(ABCC8):c.4119+10C>T
|
rs201955628
|
0.00001
|
|
NM_000352.6(ABCC8):c.4296C>T (p.Ser1432=)
|
rs752222583
|
0.00001
|
|
NM_000352.6(ABCC8):c.4314C>T (p.Asn1438=)
|
rs752809991
|
0.00001
|
|
NM_000352.6(ABCC8):c.4713C>T (p.Ser1571=)
|
rs747402972
|
0.00001
|
|
NM_000352.6(ABCC8):c.487G>A (p.Gly163Ser)
|
rs574487898
|
0.00001
|
|
NM_000353.3(TAT):c.1042-12C>T
|
rs748571289
|
0.00001
|
|
NM_000353.3(TAT):c.1146T>C (p.His382=)
|
rs141534499
|
0.00001
|
|
NM_000353.3(TAT):c.1290G>A (p.Ala430=)
|
rs767563000
|
0.00001
|
|
NM_000355.4(TCN2):c.459C>T (p.Ser153=)
|
rs201344377
|
0.00001
|
|
NM_000360.4(TH):c.1077G>A (p.Ser359=)
|
rs759797905
|
0.00001
|
|
NM_000360.4(TH):c.1233C>T (p.Ala411=)
|
rs768695630
|
0.00001
|
|
NM_000360.4(TH):c.1290C>T (p.Val430=)
|
rs367962981
|
0.00001
|
|
NM_000360.4(TH):c.195G>A (p.Gly65=)
|
rs145628270
|
0.00001
|
|
NM_000360.4(TH):c.393C>T (p.Phe131=)
|
rs1239693053
|
0.00001
|
|
NM_000360.4(TH):c.474C>T (p.Pro158=)
|
rs531554933
|
0.00001
|
|
NM_000360.4(TH):c.477G>A (p.Ala159=)
|
rs1217513263
|
0.00001
|
|
NM_000360.4(TH):c.576+10G>A
|
rs775488025
|
0.00001
|
|
NM_000360.4(TH):c.5C>T (p.Pro2Leu)
|
rs139474171
|
0.00001
|
|
NM_000360.4(TH):c.648C>T (p.Gly216=)
|
rs774810612
|
0.00001
|
|
NM_000360.4(TH):c.675C>T (p.Thr225=)
|
rs1437906953
|
0.00001
|
|
NM_000360.4(TH):c.769T>C (p.Leu257=)
|
rs138787428
|
0.00001
|
|
NM_000360.4(TH):c.841+12C>T
|
rs368489295
|
0.00001
|
|
NM_000360.4(TH):c.977+9G>C
|
rs752199740
|
0.00001
|
|
NM_000363.5(TNNI3):c.340A>G (p.Ile114Val)
|
rs730881070
|
0.00001
|
|
NM_000363.5(TNNI3):c.34C>T (p.Pro12Ser)
|
rs553214254
|
0.00001
|
|
NM_000368.5(TSC1):c.1078A>C (p.Thr360Pro)
|
rs201738258
|
0.00001
|
|
NM_000368.5(TSC1):c.1084C>T (p.Pro362Ser)
|
rs397514864
|
0.00001
|
|
NM_000368.5(TSC1):c.1097C>T (p.Pro366Leu)
|
rs763915012
|
0.00001
|
|
NM_000368.5(TSC1):c.1099C>G (p.Pro367Ala)
|
rs1412914051
|
0.00001
|
|
NM_000368.5(TSC1):c.1190C>T (p.Pro397Leu)
|
rs766487204
|
0.00001
|
|
NM_000368.5(TSC1):c.1238A>G (p.Gln413Arg)
|
rs1060503218
|
0.00001
|
|
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile)
|
rs77464996
|
0.00001
|
|
NM_000368.5(TSC1):c.1315C>G (p.Leu439Val)
|
rs199800297
|
0.00001
|
|
NM_000368.5(TSC1):c.135G>A (p.Leu45=)
|
rs149278759
|
0.00001
|
|
NM_000368.5(TSC1):c.153A>C (p.Glu51Asp)
|
rs118203342
|
0.00001
|
|
NM_000368.5(TSC1):c.1550G>A (p.Arg517Gln)
|
rs371908551
|
0.00001
|
|
NM_000368.5(TSC1):c.1562C>T (p.Ser521Leu)
|
rs759379027
|
0.00001
|
|
NM_000368.5(TSC1):c.1571C>T (p.Ser524Phe)
|
rs1276296733
|
0.00001
|
|
NM_000368.5(TSC1):c.1589G>C (p.Ser530Thr)
|
rs368481360
|
0.00001
|
|
NM_000368.5(TSC1):c.1591G>A (p.Val531Met)
|
rs377279170
|
0.00001
|
|
NM_000368.5(TSC1):c.1594A>T (p.Asn532Tyr)
|
rs765149885
|
0.00001
|
|
NM_000368.5(TSC1):c.168G>A (p.Pro56=)
|
rs781483110
|
0.00001
|
|
NM_000368.5(TSC1):c.1745C>T (p.Thr582Ile)
|
rs886063623
|
0.00001
|
|
NM_000368.5(TSC1):c.1775C>T (p.Thr592Met)
|
rs775869914
|
0.00001
|
|
NM_000368.5(TSC1):c.1794C>T (p.Ser598=)
|
rs766438395
|
0.00001
|
|
NM_000368.5(TSC1):c.1871C>T (p.Thr624Ile)
|
rs754401816
|
0.00001
|
|
NM_000368.5(TSC1):c.1882T>C (p.Leu628=)
|
rs375534013
|
0.00001
|
|
NM_000368.5(TSC1):c.1927A>G (p.Thr643Ala)
|
rs1485955306
|
0.00001
|
|
NM_000368.5(TSC1):c.2026T>A (p.Trp676Arg)
|
rs748901883
|
0.00001
|
|
NM_000368.5(TSC1):c.2033A>T (p.His678Leu)
|
rs745413532
|
0.00001
|
|
NM_000368.5(TSC1):c.2281T>C (p.Tyr761His)
|
rs776386313
|
0.00001
|
|
NM_000368.5(TSC1):c.2369A>G (p.Tyr790Cys)
|
rs749111647
|
0.00001
|
|
NM_000368.5(TSC1):c.2434A>G (p.Ile812Val)
|
rs751128287
|
0.00001
|
|
NM_000368.5(TSC1):c.2556G>C (p.Leu852=)
|
rs770381040
|
0.00001
|
|
NM_000368.5(TSC1):c.2614G>C (p.Asp872His)
|
rs746607455
|
0.00001
|
|
NM_000368.5(TSC1):c.2723G>A (p.Arg908Gln)
|
rs780115763
|
0.00001
|
|
NM_000368.5(TSC1):c.2781G>A (p.Lys927=)
|
rs118203733
|
0.00001
|
|
NM_000368.5(TSC1):c.287T>C (p.Val96Ala)
|
rs370243092
|
0.00001
|
|
NM_000368.5(TSC1):c.2893T>A (p.Leu965Ile)
|
rs1060503217
|
0.00001
|
|
NM_000368.5(TSC1):c.2896T>C (p.Tyr966His)
|
rs767946427
|
0.00001
|
|
NM_000368.5(TSC1):c.28C>T (p.Leu10Phe)
|
rs1399717425
|
0.00001
|
|
NM_000368.5(TSC1):c.2994C>T (p.Asp998=)
|
rs923543734
|
0.00001
|
|
NM_000368.5(TSC1):c.3016G>C (p.Gly1006Arg)
|
rs1242948205
|
0.00001
|
|
NM_000368.5(TSC1):c.3019C>T (p.His1007Tyr)
|
rs764738792
|
0.00001
|
|
NM_000368.5(TSC1):c.3023A>G (p.Asn1008Ser)
|
rs1263094349
|
0.00001
|
|
NM_000368.5(TSC1):c.3047G>A (p.Gly1016Asp)
|
rs1313165721
|
0.00001
|
|
NM_000368.5(TSC1):c.3130G>A (p.Glu1044Lys)
|
rs796053462
|
0.00001
|
|
NM_000368.5(TSC1):c.3350T>C (p.Leu1117Pro)
|
rs762641110
|
0.00001
|
|
NM_000368.5(TSC1):c.3356C>T (p.Thr1119Ile)
|
rs775420987
|
0.00001
|
|
NM_000368.5(TSC1):c.3433C>G (p.Pro1145Ala)
|
rs773541137
|
0.00001
|
|
NM_000368.5(TSC1):c.3434C>T (p.Pro1145Leu)
|
rs767904247
|
0.00001
|
|
NM_000368.5(TSC1):c.3486A>T (p.Glu1162Asp)
|
rs749746550
|
0.00001
|
|
NM_000368.5(TSC1):c.38T>C (p.Met13Thr)
|
rs1041071543
|
0.00001
|
|
NM_000368.5(TSC1):c.514G>A (p.Val172Met)
|
rs952813051
|
0.00001
|
|
NM_000368.5(TSC1):c.518C>T (p.Ala173Val)
|
rs777484049
|
0.00001
|
|
NM_000368.5(TSC1):c.546C>T (p.Ala182=)
|
rs1245007527
|
0.00001
|
|
NM_000368.5(TSC1):c.598G>A (p.Val200Ile)
|
rs118203410
|
0.00001
|
|
NM_000368.5(TSC1):c.61G>T (p.Val21Leu)
|
rs1392596033
|
0.00001
|
|
NM_000368.5(TSC1):c.64C>T (p.Arg22Trp)
|
rs749030456
|
0.00001
|
|
NM_000368.5(TSC1):c.670A>T (p.Met224Leu)
|
rs535397245
|
0.00001
|
|
NM_000368.5(TSC1):c.738-10C>A
|
rs768158324
|
0.00001
|
|
NM_000368.5(TSC1):c.809C>T (p.Ser270Leu)
|
rs878853968
|
0.00001
|
|
NM_000368.5(TSC1):c.819T>G (p.Asp273Glu)
|
rs148756522
|
0.00001
|
|
NM_000368.5(TSC1):c.826T>C (p.Ser276Pro)
|
rs774009225
|
0.00001
|
|
NM_000369.5(TSHR):c.692+3G>A
|
rs552128204
|
0.00001
|
|
NM_000370.3(TTPA):c.6A>T (p.Ala2=)
|
rs1805748956
|
0.00001
|
|
NM_000371.4(TTR):c.69G>A (p.Thr23=)
|
rs752579437
|
0.00001
|
|
NM_000371.4(TTR):c.70-16T>C
|
rs759512847
|
0.00001
|
|
NM_000381.4(MID1):c.567C>T (p.Thr189=)
|
rs1555905154
|
0.00001
|
|
NM_000383.4(AIRE):c.1067G>A (p.Arg356Gln)
|
rs752432041
|
0.00001
|
|
NM_000383.4(AIRE):c.1161C>T (p.Gly387=)
|
rs372895437
|
0.00001
|
|
NM_000383.4(AIRE):c.1338T>C (p.Cys446=)
|
rs979048802
|
0.00001
|
|
NM_000383.4(AIRE):c.534G>A (p.Gly178=)
|
rs1160671214
|
0.00001
|
|
NM_000383.4(AIRE):c.840C>T (p.Pro280=)
|
rs772423300
|
0.00001
|
|
NM_000383.4(AIRE):c.843C>T (p.Ala281=)
|
rs769454980
|
0.00001
|
|
NM_000383.4(AIRE):c.90C>T (p.His30=)
|
rs754316070
|
0.00001
|
|
NM_000384.3(APOB):c.10025C>T (p.Ser3342Phe)
|
rs267599180
|
0.00001
|
|
NM_000384.3(APOB):c.1077T>G (p.Ser359Arg)
|
rs752605091
|
0.00001
|
|
NM_000384.3(APOB):c.11078C>A (p.Thr3693Asn)
|
rs776068398
|
0.00001
|
|
NM_000384.3(APOB):c.12122C>G (p.Thr4041Ser)
|
rs776875782
|
0.00001
|
|
NM_000384.3(APOB):c.12343G>T (p.Val4115Phe)
|
rs765681925
|
0.00001
|
|
NM_000384.3(APOB):c.12635C>G (p.Thr4212Ser)
|
rs201208445
|
0.00001
|
|
NM_000384.3(APOB):c.12889C>T (p.Arg4297Cys)
|
rs761260344
|
0.00001
|
|
NM_000384.3(APOB):c.12977T>A (p.Ile4326Asn)
|
rs763668912
|
0.00001
|
|
NM_000384.3(APOB):c.13154G>A (p.Arg4385His)
|
rs533755016
|
0.00001
|
|
NM_000384.3(APOB):c.1331C>T (p.Ala444Val)
|
rs769425660
|
0.00001
|
|
NM_000384.3(APOB):c.1904G>A (p.Arg635Gln)
|
rs202001155
|
0.00001
|
|
NM_000384.3(APOB):c.2335A>G (p.Ile779Val)
|
rs763559077
|
0.00001
|
|
NM_000384.3(APOB):c.2398C>A (p.Leu800Met)
|
rs183950016
|
0.00001
|
|
NM_000384.3(APOB):c.2676G>A (p.Pro892=)
|
rs759072451
|
0.00001
|
|
NM_000384.3(APOB):c.2849C>T (p.Thr950Met)
|
rs187506285
|
0.00001
|
|
NM_000384.3(APOB):c.2864C>T (p.Pro955Leu)
|
rs763052786
|
0.00001
|
|
NM_000384.3(APOB):c.3052G>A (p.Ala1018Thr)
|
rs149357946
|
0.00001
|
|
NM_000384.3(APOB):c.3239A>G (p.Asn1080Ser)
|
rs201825493
|
0.00001
|
|
NM_000384.3(APOB):c.3979G>A (p.Gly1327Arg)
|
rs760203474
|
0.00001
|
|
NM_000384.3(APOB):c.403A>G (p.Ile135Val)
|
rs769296548
|
0.00001
|
|
NM_000384.3(APOB):c.4156C>T (p.Arg1386Trp)
|
rs201270852
|
0.00001
|
|
NM_000384.3(APOB):c.4366G>A (p.Asp1456Asn)
|
rs147759262
|
0.00001
|
|
NM_000384.3(APOB):c.460C>G (p.Leu154Val)
|
rs914357651
|
0.00001
|
|
NM_000384.3(APOB):c.5617G>A (p.Ala1873Thr)
|
rs750451480
|
0.00001
|
|
NM_000384.3(APOB):c.6092G>C (p.Ser2031Thr)
|
rs776946940
|
0.00001
|
|
NM_000384.3(APOB):c.6764A>C (p.Lys2255Thr)
|
rs1249838546
|
0.00001
|
|
NM_000384.3(APOB):c.7603T>C (p.Tyr2535His)
|
rs146593015
|
0.00001
|
|
NM_000384.3(APOB):c.7979C>T (p.Ser2660Phe)
|
rs1408828737
|
0.00001
|
|
NM_000384.3(APOB):c.9633C>A (p.Asn3211Lys)
|
rs748318755
|
0.00001
|
|
NM_000384.3(APOB):c.9692A>G (p.Asp3231Gly)
|
rs778780703
|
0.00001
|
|
NM_000388.4(CASR):c.1297G>C (p.Asp433His)
|
rs199511990
|
0.00001
|
|
NM_000391.4(TPP1):c.1076-17C>T
|
rs1258440716
|
0.00001
|
|
NM_000391.4(TPP1):c.1543C>T (p.Leu515Phe)
|
rs748345018
|
0.00001
|
|
NM_000391.4(TPP1):c.1671G>A (p.Leu557=)
|
rs777267276
|
0.00001
|
|
NM_000391.4(TPP1):c.197A>T (p.Gln66Leu)
|
rs751088292
|
0.00001
|
|
NM_000391.4(TPP1):c.380+3G>A
|
rs781744173
|
0.00001
|
|
NM_000392.5(ABCC2):c.2095-7C>T
|
rs774902843
|
0.00001
|
|
NM_000392.5(ABCC2):c.330A>G (p.Thr110=)
|
rs750755532
|
0.00001
|
|
NM_000392.5(ABCC2):c.3873G>A (p.Pro1291=)
|
rs765304225
|
0.00001
|
|
NM_000392.5(ABCC2):c.4398G>A (p.Ala1466=)
|
rs780515921
|
0.00001
|
|
NM_000392.5(ABCC2):c.855T>C (p.Asp285=)
|
rs769700101
|
0.00001
|
|
NM_000393.5(COL5A2):c.1563+5A>G
|
rs777118100
|
0.00001
|
|
NM_000393.5(COL5A2):c.2742G>A (p.Ala914=)
|
rs773825862
|
0.00001
|
|
NM_000396.4(CTSK):c.8G>A (p.Gly3Glu)
|
rs202055627
|
0.00001
|
|
NM_000414.4(HSD17B4):c.1210-11C>G
|
rs779466683
|
0.00001
|
|
NM_000414.4(HSD17B4):c.1596T>C (p.His532=)
|
rs758045328
|
0.00001
|
|
NM_000414.4(HSD17B4):c.1625G>A (p.Arg542Lys)
|
rs546653967
|
0.00001
|
|
NM_000414.4(HSD17B4):c.501A>C (p.Ala167=)
|
rs776640310
|
0.00001
|
|
NM_000417.3(IL2RA):c.252C>T (p.Ser84=)
|
rs1034684102
|
0.00001
|
|
NM_000419.5(ITGA2B):c.1389C>T (p.Tyr463=)
|
rs148618973
|
0.00001
|
|
NM_000419.5(ITGA2B):c.945+9C>A
|
rs776521459
|
0.00001
|
|
NM_000423.3(KRT2):c.1630C>T (p.Arg544Ter)
|
rs571471637
|
0.00001
|
|
NM_000426.4(LAMA2):c.2376C>T (p.Phe792=)
|
rs150046431
|
0.00001
|
|
NM_000426.4(LAMA2):c.2749+24C>A
|
rs886038292
|
0.00001
|
|
NM_000426.4(LAMA2):c.4640C>T (p.Thr1547Met)
|
rs778106503
|
0.00001
|
|
NM_000426.4(LAMA2):c.4749C>T (p.Leu1583=)
|
rs754850670
|
0.00001
|
|
NM_000426.4(LAMA2):c.488A>T (p.Tyr163Phe)
|
rs201175472
|
0.00001
|
|
NM_000426.4(LAMA2):c.7898+12A>G
|
rs572960610
|
0.00001
|
|
NM_000428.3(LTBP2):c.3354G>A (p.Lys1118=)
|
rs1211195117
|
0.00001
|
|
NM_000430.4(PAFAH1B1):c.1130A>G (p.Asn377Ser)
|
rs1167470350
|
0.00001
|
|
NM_000431.4(MVK):c.1116C>T (p.Ile372=)
|
rs368066027
|
0.00001
|
|
NM_000431.4(MVK):c.423G>A (p.Ala141=)
|
rs756068705
|
0.00001
|
|
NM_000431.4(MVK):c.483C>T (p.Cys161=)
|
rs777886684
|
0.00001
|
|
NM_000432.4(MYL2):c.-2C>T
|
rs730880938
|
0.00001
|
|
NM_000432.4(MYL2):c.275-12G>A
|
rs750937792
|
0.00001
|
|
NM_000435.3(NOTCH3):c.2209G>A (p.Ala737Thr)
|
rs754815179
|
0.00001
|
|
NM_000435.3(NOTCH3):c.329G>A (p.Arg110His)
|
rs769955930
|
0.00001
|
|
NM_000436.4(OXCT1):c.956-15A>G
|
rs886060636
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=)
|
rs727504993
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1344G>A (p.Ser448=)
|
rs768687579
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1708-14A>G
|
rs1453109539
|
0.00001
|
|
NM_000441.2(SLC26A4):c.406A>G (p.Ile136Val)
|
rs759268252
|
0.00001
|
|
NM_000441.2(SLC26A4):c.678T>C (p.Ala226=)
|
rs773602319
|
0.00001
|
|
NM_000441.2(SLC26A4):c.921G>A (p.Thr307=)
|
rs765644650
|
0.00001
|
|
NM_000443.4(ABCB4):c.1119+8A>C
|
rs1471180323
|
0.00001
|
|
NM_000443.4(ABCB4):c.1233C>A (p.Ile411=)
|
rs916276498
|
0.00001
|
|
NM_000443.4(ABCB4):c.1723C>T (p.Leu575=)
|
rs748044865
|
0.00001
|
|
NM_000443.4(ABCB4):c.174G>A (p.Ser58=)
|
rs772771936
|
0.00001
|
|
NM_000443.4(ABCB4):c.240G>A (p.Glu80=)
|
rs8187787
|
0.00001
|
|
NM_000443.4(ABCB4):c.2730C>T (p.Thr910=)
|
rs978222245
|
0.00001
|
|
NM_000443.4(ABCB4):c.3033T>C (p.Phe1011=)
|
rs1297237099
|
0.00001
|
|
NM_000443.4(ABCB4):c.3258C>T (p.Tyr1086=)
|
rs1435564748
|
0.00001
|
|
NM_000443.4(ABCB4):c.3633+9G>A
|
rs1554396917
|
0.00001
|
|
NM_000451.4(SHOX):c.723C>T (p.Phe241=)
|
rs886042718
|
0.00001
|
|
NM_000452.3(SLC10A2):c.45T>C (p.Ser15=)
|
rs374581163
|
0.00001
|
|
NM_000452.3(SLC10A2):c.753C>G (p.Pro251=)
|
rs1172213655
|
0.00001
|
|
NM_000455.5(STK11):c.-1C>T
|
rs759284466
|
0.00001
|
|
NM_000455.5(STK11):c.1012G>A (p.Val338Met)
|
rs587782302
|
0.00001
|
|
NM_000455.5(STK11):c.1036G>A (p.Gly346Ser)
|
rs375431906
|
0.00001
|
|
NM_000455.5(STK11):c.1039G>A (p.Ala347Thr)
|
rs369744528
|
0.00001
|
|
NM_000455.5(STK11):c.1109-4C>T
|
rs1407794756
|
0.00001
|
|
NM_000455.5(STK11):c.1139A>G (p.Asn380Ser)
|
rs1247102370
|
0.00001
|
|
NM_000455.5(STK11):c.1145A>G (p.Gln382Arg)
|
rs985937027
|
0.00001
|
|
NM_000455.5(STK11):c.1147C>T (p.Arg383Cys)
|
rs535449626
|
0.00001
|
|
NM_000455.5(STK11):c.1150C>T (p.Arg384Trp)
|
rs752015385
|
0.00001
|
|
NM_000455.5(STK11):c.1153G>A (p.Gly385Ser)
|
rs763586612
|
0.00001
|
|
NM_000455.5(STK11):c.1167C>G (p.Ala389=)
|
rs547919101
|
0.00001
|
|
NM_000455.5(STK11):c.1174A>G (p.Met392Val)
|
rs565993396
|
0.00001
|
|
NM_000455.5(STK11):c.1182C>T (p.Gly394=)
|
rs376679847
|
0.00001
|
|
NM_000455.5(STK11):c.1189G>T (p.Ala397Ser)
|
rs587780008
|
0.00001
|
|
NM_000455.5(STK11):c.1190C>T (p.Ala397Val)
|
rs558040549
|
0.00001
|
|
NM_000455.5(STK11):c.1217C>T (p.Ala406Val)
|
rs748202003
|
0.00001
|
|
NM_000455.5(STK11):c.1222G>A (p.Gly408Ser)
|
rs749463771
|
0.00001
|
|
NM_000455.5(STK11):c.1231C>G (p.Pro411Ala)
|
rs772527201
|
0.00001
|
|
NM_000455.5(STK11):c.1245C>T (p.Arg415=)
|
rs878853985
|
0.00001
|
|
NM_000455.5(STK11):c.1247A>G (p.Lys416Arg)
|
rs1446554442
|
0.00001
|
|
NM_000455.5(STK11):c.1251C>T (p.Ala417=)
|
rs1060503786
|
0.00001
|
|
NM_000455.5(STK11):c.1252T>A (p.Cys418Ser)
|
rs730881991
|
0.00001
|
|
NM_000455.5(STK11):c.1259C>T (p.Ala420Val)
|
rs369033659
|
0.00001
|
|
NM_000455.5(STK11):c.291-13C>T
|
rs1332978515
|
0.00001
|
|
NM_000455.5(STK11):c.317G>A (p.Arg106Gln)
|
rs375622587
|
0.00001
|
|
NM_000455.5(STK11):c.434A>G (p.Glu145Gly)
|
rs369764220
|
0.00001
|
|
NM_000455.5(STK11):c.447A>G (p.Pro149=)
|
rs587780718
|
0.00001
|
|
NM_000455.5(STK11):c.449T>C (p.Val150Ala)
|
rs587781802
|
0.00001
|
|
NM_000455.5(STK11):c.45C>T (p.Gly15=)
|
rs786201234
|
0.00001
|
|
NM_000455.5(STK11):c.464+4C>T
|
rs373167735
|
0.00001
|
|
NM_000455.5(STK11):c.464+8C>T
|
rs863224669
|
0.00001
|
|
NM_000455.5(STK11):c.465-10C>G
|
rs1060503780
|
0.00001
|
|
NM_000455.5(STK11):c.465-8G>A
|
rs878853990
|
0.00001
|
|
NM_000455.5(STK11):c.559G>A (p.Gly187Ser)
|
rs587782032
|
0.00001
|
|
NM_000455.5(STK11):c.579C>T (p.Ser193=)
|
rs730881961
|
0.00001
|
|
NM_000455.5(STK11):c.632G>A (p.Arg211Gln)
|
rs730881982
|
0.00001
|
|
NM_000455.5(STK11):c.71C>T (p.Thr24Met)
|
rs770503805
|
0.00001
|
|
NM_000455.5(STK11):c.720G>A (p.Ser240=)
|
rs759743897
|
0.00001
|
|
NM_000455.5(STK11):c.750G>A (p.Thr250=)
|
rs748112446
|
0.00001
|
|
NM_000455.5(STK11):c.841C>A (p.Pro281Thr)
|
rs377208033
|
0.00001
|
|
NM_000455.5(STK11):c.846C>G (p.Leu282=)
|
rs777872290
|
0.00001
|
|
NM_000455.5(STK11):c.877G>A (p.Glu293Lys)
|
rs398123405
|
0.00001
|
|
NM_000455.5(STK11):c.902G>A (p.Arg301Gln)
|
rs370222210
|
0.00001
|
|
NM_000455.5(STK11):c.921-8G>A
|
rs863224362
|
0.00001
|
|
NM_000455.5(STK11):c.921-9C>T
|
rs761688641
|
0.00001
|
|
NM_000455.5(STK11):c.957A>G (p.Pro319=)
|
rs755126393
|
0.00001
|
|
NM_000455.5(STK11):c.976C>A (p.Pro326Thr)
|
rs771632414
|
0.00001
|
|
NM_000458.4(HNF1B):c.66C>A (p.Thr22=)
|
rs906719754
|
0.00001
|
|
NM_000458.4(HNF1B):c.983C>T (p.Pro328Leu)
|
rs764132839
|
0.00001
|
|
NM_000463.3(UGT1A1):c.1161C>T (p.Pro387=)
|
rs763217521
|
0.00001
|
|
NM_000465.4(BARD1):c.1016G>A (p.Ser339Asn)
|
rs201261729
|
0.00001
|
|
NM_000465.4(BARD1):c.1025G>A (p.Ser342Asn)
|
rs760950550
|
0.00001
|
|
NM_000465.4(BARD1):c.123C>A (p.Leu41=)
|
rs764410072
|
0.00001
|
|
NM_000465.4(BARD1):c.1300A>T (p.Ile434Phe)
|
rs758049210
|
0.00001
|
|
NM_000465.4(BARD1):c.1317C>T (p.Gly439=)
|
rs369986649
|
0.00001
|
|
NM_000465.4(BARD1):c.1360C>G (p.Pro454Ala)
|
rs730881408
|
0.00001
|
|
NM_000465.4(BARD1):c.1448A>G (p.His483Arg)
|
rs587781874
|
0.00001
|
|
NM_000465.4(BARD1):c.1718T>C (p.Ile573Thr)
|
rs587780022
|
0.00001
|
|
NM_000465.4(BARD1):c.1847G>A (p.Ser616Asn)
|
rs1475259063
|
0.00001
|
|
NM_000465.4(BARD1):c.2002-12T>G
|
rs587780027
|
0.00001
|
|
NM_000465.4(BARD1):c.2129A>T (p.Asp710Val)
|
rs150121935
|
0.00001
|
|
NM_000465.4(BARD1):c.335G>A (p.Arg112Gln)
|
rs587781591
|
0.00001
|
|
NM_000465.4(BARD1):c.382C>T (p.Pro128Ser)
|
rs878854011
|
0.00001
|
|
NM_000465.4(BARD1):c.465A>G (p.Arg155=)
|
rs730881413
|
0.00001
|
|
NM_000465.4(BARD1):c.54C>G (p.Asn18Lys)
|
rs587780032
|
0.00001
|
|
NM_000465.4(BARD1):c.735A>G (p.Gln245=)
|
rs763378916
|
0.00001
|
|
NM_000465.4(BARD1):c.73G>C (p.Ala25Pro)
|
rs751646468
|
0.00001
|
|
NM_000465.4(BARD1):c.835T>C (p.Ser279Pro)
|
rs587781456
|
0.00001
|
|
NM_000465.4(BARD1):c.965G>A (p.Arg322His)
|
rs774251286
|
0.00001
|
|
NM_000465.4(BARD1):c.976A>G (p.Asn326Asp)
|
rs587780038
|
0.00001
|
|
NM_000466.3(PEX1):c.1324C>T (p.Pro442Ser)
|
rs560969584
|
0.00001
|
|
NM_000466.3(PEX1):c.1671-13A>G
|
rs757960956
|
0.00001
|
|
NM_000466.3(PEX1):c.1767A>T (p.Gly589=)
|
rs1364124177
|
0.00001
|
|
NM_000466.3(PEX1):c.2927-8T>C
|
rs778618662
|
0.00001
|
|
NM_000466.3(PEX1):c.3166T>C (p.Leu1056=)
|
rs1009877821
|
0.00001
|
|
NM_000466.3(PEX1):c.3195G>A (p.Ser1065=)
|
rs768417678
|
0.00001
|
|
NM_000466.3(PEX1):c.3543A>G (p.Ser1181=)
|
rs374673391
|
0.00001
|
|
NM_000466.3(PEX1):c.3633T>C (p.Ser1211=)
|
rs753334806
|
0.00001
|
|
NM_000466.3(PEX1):c.3642C>T (p.Asp1214=)
|
rs777384403
|
0.00001
|
|
NM_000466.3(PEX1):c.693C>T (p.Asn231=)
|
rs1463386429
|
0.00001
|
|
NM_000466.3(PEX1):c.803C>G (p.Thr268Ser)
|
rs780119112
|
0.00001
|
|
NM_000466.3(PEX1):c.831G>A (p.Gln277=)
|
rs1210178752
|
0.00001
|
|
NM_000475.5(NR0B1):c.697G>A (p.Ala233Thr)
|
rs761762294
|
0.00001
|
|
NM_000481.4(AMT):c.153G>A (p.Ala51=)
|
rs768510463
|
0.00001
|
|
NM_000481.4(AMT):c.471+9C>T
|
rs760770619
|
0.00001
|
|
NM_000481.4(AMT):c.60G>A (p.Pro20=)
|
rs374750709
|
0.00001
|
|
NM_000481.4(AMT):c.750C>T (p.Asn250=)
|
rs141324034
|
0.00001
|
|
NM_000481.4(AMT):c.84C>T (p.Cys28=)
|
rs763223038
|
0.00001
|
|
NM_000484.4(APP):c.1224+12T>C
|
rs200725014
|
0.00001
|
|
NM_000484.4(APP):c.618G>A (p.Ser206=)
|
rs201022619
|
0.00001
|
|
NM_000487.6(ARSA):c.1211-15T>C
|
rs374150980
|
0.00001
|
|
NM_000487.6(ARSA):c.279C>T (p.Val93=)
|
rs756760904
|
0.00001
|
|
NM_000487.6(ARSA):c.663C>T (p.Phe221=)
|
rs754484249
|
0.00001
|
|
NM_000487.6(ARSA):c.891C>T (p.Ser297=)
|
rs770536697
|
0.00001
|
|
NM_000487.6(ARSA):c.979+8C>T
|
rs746862304
|
0.00001
|
|
NM_000488.4(SERPINC1):c.408+4C>T
|
rs201551398
|
0.00001
|
|
NM_000489.6(ATRX):c.1346C>G (p.Pro449Arg)
|
rs782163488
|
0.00001
|
|
NM_000489.6(ATRX):c.1366G>A (p.Asp456Asn)
|
rs782313786
|
0.00001
|
|
NM_000489.6(ATRX):c.1526C>G (p.Thr509Ser)
|
rs1557141410
|
0.00001
|
|
NM_000489.6(ATRX):c.16A>G (p.Met6Val)
|
rs782080475
|
0.00001
|
|
NM_000489.6(ATRX):c.1709A>G (p.Asn570Ser)
|
rs782517450
|
0.00001
|
|
NM_000489.6(ATRX):c.1960C>G (p.Arg654Gly)
|
rs1557140492
|
0.00001
|
|
NM_000489.6(ATRX):c.2083G>C (p.Val695Leu)
|
rs571313578
|
0.00001
|
|
NM_000489.6(ATRX):c.2348G>C (p.Ser783Thr)
|
rs782530243
|
0.00001
|
|
NM_000489.6(ATRX):c.2472G>C (p.Glu824Asp)
|
rs1557139572
|
0.00001
|
|
NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln)
|
rs797044792
|
0.00001
|
|
NM_000489.6(ATRX):c.2787G>C (p.Glu929Asp)
|
rs782283059
|
0.00001
|
|
NM_000489.6(ATRX):c.278A>T (p.Asp93Val)
|
rs1064796774
|
0.00001
|
|
NM_000489.6(ATRX):c.3314A>G (p.Gln1105Arg)
|
rs1569538747
|
0.00001
|
|
NM_000489.6(ATRX):c.3395T>C (p.Ile1132Thr)
|
rs587780285
|
0.00001
|
|
NM_000489.6(ATRX):c.3555G>C (p.Lys1185Asn)
|
rs782696086
|
0.00001
|
|
NM_000489.6(ATRX):c.3623T>C (p.Ile1208Thr)
|
rs374291079
|
0.00001
|
|
NM_000489.6(ATRX):c.3850C>T (p.Leu1284Phe)
|
rs782619383
|
0.00001
|
|
NM_000489.6(ATRX):c.4031A>G (p.Lys1344Arg)
|
rs782556767
|
0.00001
|
|
NM_000489.6(ATRX):c.4072A>G (p.Thr1358Ala)
|
rs781912326
|
0.00001
|
|
NM_000489.6(ATRX):c.4201C>T (p.Arg1401Trp)
|
rs1557119999
|
0.00001
|
|
NM_000489.6(ATRX):c.5559C>T (p.His1853=)
|
rs1557096973
|
0.00001
|
|
NM_000489.6(ATRX):c.5935G>C (p.Val1979Leu)
|
rs782773652
|
0.00001
|
|
NM_000489.6(ATRX):c.631C>T (p.Arg211Cys)
|
rs782241890
|
0.00001
|
|
NM_000489.6(ATRX):c.7379A>G (p.Tyr2460Cys)
|
rs782169215
|
0.00001
|
|
NM_000489.6(ATRX):c.847G>A (p.Val283Ile)
|
rs1057522580
|
0.00001
|
|
NM_000492.4(CFTR):c.1209+7A>T
|
rs767301152
|
0.00001
|
|
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr)
|
rs397508224
|
0.00001
|
|
NM_000492.4(CFTR):c.1545T>C (p.Tyr515=)
|
rs747504631
|
0.00001
|
|
NM_000492.4(CFTR):c.1585-7G>A
|
rs1367201083
|
0.00001
|
|
NM_000492.4(CFTR):c.1587C>T (p.Asp529=)
|
rs772895745
|
0.00001
|
|
NM_000492.4(CFTR):c.164+12T>C
|
rs121908790
|
0.00001
|
|
NM_000492.4(CFTR):c.1830A>T (p.Leu610Phe)
|
rs1048183757
|
0.00001
|
|
NM_000492.4(CFTR):c.2055A>G (p.Gln685=)
|
rs1457520634
|
0.00001
|
|
NM_000492.4(CFTR):c.2255T>G (p.Ile752Ser)
|
rs766541549
|
0.00001
|
|
NM_000492.4(CFTR):c.2280G>A (p.Thr760=)
|
rs138634146
|
0.00001
|
|
NM_000492.4(CFTR):c.2505T>C (p.Asp835=)
|
rs761043298
|
0.00001
|
|
NM_000492.4(CFTR):c.2526A>G (p.Ala842=)
|
rs758128209
|
0.00001
|
|
NM_000492.4(CFTR):c.2808A>G (p.Pro936=)
|
rs397508438
|
0.00001
|
|
NM_000492.4(CFTR):c.2835G>A (p.Ser945=)
|
rs193922513
|
0.00001
|
|
NM_000492.4(CFTR):c.3139+8A>G
|
rs193922517
|
0.00001
|
|
NM_000492.4(CFTR):c.3368-20C>T
|
rs761144879
|
0.00001
|
|
NM_000492.4(CFTR):c.3588A>T (p.Ser1196=)
|
rs759202870
|
0.00001
|
|
NM_000492.4(CFTR):c.3759G>A (p.Leu1253=)
|
rs117400534
|
0.00001
|
|
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu)
|
rs397508607
|
0.00001
|
|
NM_000492.4(CFTR):c.3874-14C>G
|
rs184271150
|
0.00001
|
|
NM_000492.4(CFTR):c.3963+6G>T
|
rs1793110791
|
0.00001
|
|
NM_000492.4(CFTR):c.3969G>A (p.Gly1323=)
|
rs886061952
|
0.00001
|
|
NM_000492.4(CFTR):c.4143C>T (p.Tyr1381=)
|
rs397508683
|
0.00001
|
|
NM_000492.4(CFTR):c.4367G>A (p.Ser1456Asn)
|
rs983279303
|
0.00001
|
|
NM_000492.4(CFTR):c.579+34A>G
|
rs148209839
|
0.00001
|
|
NM_000492.4(CFTR):c.725G>A (p.Arg242Lys)
|
rs758012554
|
0.00001
|
|
NM_000492.4(CFTR):c.744-6T>G
|
rs878854022
|
0.00001
|
|
NM_000492.4(CFTR):c.869+25A>G
|
rs1554380840
|
0.00001
|
|
NM_000493.4(COL10A1):c.1392G>A (p.Gly464=)
|
rs886042553
|
0.00001
|
|
NM_000497.4(CYP11B1):c.595+8C>A
|
rs1322560606
|
0.00001
|
|
NM_000498.3(CYP11B2):c.1341G>A (p.Met447Ile)
|
rs544454389
|
0.00001
|
|
NM_000498.3(CYP11B2):c.159G>A (p.Leu53=)
|
rs768928152
|
0.00001
|
|
NM_000498.3(CYP11B2):c.30C>T (p.Cys10=)
|
rs752745892
|
0.00001
|
|
NM_000498.3(CYP11B2):c.84C>T (p.Ala28=)
|
rs745626507
|
0.00001
|
|
NM_000501.4(ELN):c.1281C>T (p.Pro427=)
|
rs376496267
|
0.00001
|
|
NM_000501.4(ELN):c.1622-6C>T
|
rs1280128851
|
0.00001
|
|
NM_000501.4(ELN):c.163+13A>G
|
rs782388951
|
0.00001
|
|
NM_000501.4(ELN):c.1640G>A (p.Gly547Asp)
|
rs150248865
|
0.00001
|
|
NM_000512.5(GALNS):c.1003-10T>C
|
rs753249472
|
0.00001
|
|
NM_000512.5(GALNS):c.1008C>T (p.Ser336=)
|
rs886052456
|
0.00001
|
|
NM_000512.5(GALNS):c.567-3C>T
|
rs549597016
|
0.00001
|
|
NM_000512.5(GALNS):c.993T>C (p.Thr331=)
|
rs762154863
|
0.00001
|
|
NM_000517.6(HBA2):c.307A>C (p.Ser103Arg)
|
rs41321052
|
0.00001
|
|
NM_000518.4(HBB):c.-104G>A
|
rs1274149043
|
0.00001
|
|
NM_000518.4(HBB):c.410G>A (p.Gly137Asp)
|
rs33949486
|
0.00001
|
|
NM_000518.5(HBB):c.*74A>G
|
rs369101035
|
0.00001
|
|
NM_000518.5(HBB):c.122G>A (p.Arg41Lys)
|
rs34831026
|
0.00001
|
|
NM_000518.5(HBB):c.131A>C (p.Glu44Ala)
|
rs35262412
|
0.00001
|
|
NM_000518.5(HBB):c.201A>G (p.Lys67=)
|
rs36092904
|
0.00001
|
|
NM_000518.5(HBB):c.274C>T (p.Leu92=)
|
rs769583496
|
0.00001
|
|
NM_000518.5(HBB):c.286A>G (p.Lys96Glu)
|
rs33914359
|
0.00001
|
|
NM_000518.5(HBB):c.316-102C>A
|
rs1468940510
|
0.00001
|
|
NM_000518.5(HBB):c.316-107G>C
|
rs930802593
|
0.00001
|
|
NM_000518.5(HBB):c.316-114C>A
|
rs1003790835
|
0.00001
|
|
NM_000518.5(HBB):c.316-124A>T
|
rs1184042209
|
0.00001
|
|
NM_000518.5(HBB):c.316-130T>C
|
rs956857115
|
0.00001
|
|
NM_000518.5(HBB):c.316-138G>A
|
rs1444028845
|
0.00001
|
|
NM_000518.5(HBB):c.316-145G>A
|
rs1005042281
|
0.00001
|
|
NM_000518.5(HBB):c.316-156T>C
|
rs1164871363
|
0.00001
|
|
NM_000518.5(HBB):c.316-99T>G
|
rs1232651664
|
0.00001
|
|
NM_000518.5(HBB):c.333G>A (p.Leu111=)
|
rs1215164743
|
0.00001
|
|
NM_000518.5(HBB):c.353A>G (p.His118Arg)
|
rs33935673
|
0.00001
|
|
NM_000518.5(HBB):c.380T>C (p.Val127Ala)
|
rs33925391
|
0.00001
|
|
NM_000518.5(HBB):c.45G>A (p.Leu15=)
|
rs762782573
|
0.00001
|
|
NM_000518.5(HBB):c.60C>T (p.Asn20=)
|
rs63750840
|
0.00001
|
|
NM_000518.5(HBB):c.93-15T>C
|
rs35456885
|
0.00001
|
|
NM_000518.5(HBB):c.93-24A>G
|
rs773687221
|
0.00001
|
|
NM_000521.4(HEXB):c.156G>A (p.Pro52=)
|
rs758965664
|
0.00001
|
|
NM_000525.4(KCNJ11):c.819C>T (p.Ser273=)
|
rs202238153
|
0.00001
|
|
NM_000525.4(KCNJ11):c.969C>T (p.Asp323=)
|
rs1272384074
|
0.00001
|
|
NM_000527.4(LDLR):c.-120C>T
|
rs875989886
|
0.00001
|
|
NM_000527.5(LDLR):c.1060+18C>A
|
rs780579614
|
0.00001
|
|
NM_000527.5(LDLR):c.1063A>G (p.Ile355Val)
|
rs879254776
|
0.00001
|
|
NM_000527.5(LDLR):c.1153C>G (p.Leu385Val)
|
rs879254808
|
0.00001
|
|
NM_000527.5(LDLR):c.1186+10G>C
|
rs781336025
|
0.00001
|
|
NM_000527.5(LDLR):c.1301C>T (p.Thr434Met)
|
rs745343524
|
0.00001
|
|
NM_000527.5(LDLR):c.1384G>A (p.Val462Ile)
|
rs750363970
|
0.00001
|
|
NM_000527.5(LDLR):c.1393T>A (p.Tyr465Asn)
|
rs730882101
|
0.00001
|
|
NM_000527.5(LDLR):c.1420C>G (p.Gln474Glu)
|
rs201967266
|
0.00001
|
|
NM_000527.5(LDLR):c.1515C>T (p.Gly505=)
|
rs780757228
|
0.00001
|
|
NM_000527.5(LDLR):c.1587-11C>T
|
rs201957233
|
0.00001
|
|
NM_000527.5(LDLR):c.1661C>T (p.Ser554Leu)
|
rs879254976
|
0.00001
|
|
NM_000527.5(LDLR):c.1911C>T (p.Ser637=)
|
rs373570349
|
0.00001
|
|
NM_000527.5(LDLR):c.1976C>A (p.Thr659Asn)
|
rs879255094
|
0.00001
|
|
NM_000527.5(LDLR):c.2097G>A (p.Pro699=)
|
rs370835628
|
0.00001
|
|
NM_000527.5(LDLR):c.211G>A (p.Gly71Arg)
|
rs766903209
|
0.00001
|
|
NM_000527.5(LDLR):c.2206G>A (p.Val736Ile)
|
rs547268730
|
0.00001
|
|
NM_000527.5(LDLR):c.2225C>T (p.Thr742Ile)
|
rs767546791
|
0.00001
|
|
NM_000527.5(LDLR):c.2291T>C (p.Ile764Thr)
|
rs759440817
|
0.00001
|
|
NM_000527.5(LDLR):c.2343G>T (p.Glu781Asp)
|
rs761683856
|
0.00001
|
|
NM_000527.5(LDLR):c.2391G>C (p.Val797=)
|
rs752846235
|
0.00001
|
|
NM_000527.5(LDLR):c.2529C>T (p.Asp843=)
|
rs374635484
|
0.00001
|
|
NM_000527.5(LDLR):c.2548-12A>G
|
rs771336748
|
0.00001
|
|
NM_000527.5(LDLR):c.48C>A (p.Leu16=)
|
rs565675103
|
0.00001
|
|
NM_000527.5(LDLR):c.543G>A (p.Pro181=)
|
rs766577671
|
0.00001
|
|
NM_000527.5(LDLR):c.68-9C>G
|
rs1284807471
|
0.00001
|
|
NM_000527.5(LDLR):c.981C>T (p.His327=)
|
rs1060499933
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1026+8C>T
|
rs199908179
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1713C>T (p.Pro571=)
|
rs747081586
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1893G>T (p.Gln631His)
|
rs775247526
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2437-5C>G
|
rs200695002
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2622T>C (p.Gly874=)
|
rs545541738
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2661G>A (p.Thr887=)
|
rs775212002
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2856G>A (p.Gln952=)
|
rs1318861970
|
0.00001
|
|
NM_000528.4(MAN2B1):c.3006C>A (p.Ala1002=)
|
rs2023694204
|
0.00001
|
|
NM_000528.4(MAN2B1):c.597C>T (p.Gly199=)
|
rs200872797
|
0.00001
|
|
NM_000528.4(MAN2B1):c.81C>T (p.Ala27=)
|
rs1407475487
|
0.00001
|
|
NM_000528.4(MAN2B1):c.855C>T (p.Pro285=)
|
rs139218045
|
0.00001
|
|
NM_000530.8(MPZ):c.200G>A (p.Arg67His)
|
rs201720099
|
0.00001
|
|
NM_000531.6(OTC):c.68G>A (p.Arg23Gln)
|
rs148660170
|
0.00001
|
|
NM_000531.6(OTC):c.896C>T (p.Thr299Ile)
|
rs756772340
|
0.00001
|
|
NM_000532.5(PCCB):c.1199-8A>G
|
rs886058019
|
0.00001
|
|
NM_000532.5(PCCB):c.332G>A (p.Arg111Gln)
|
rs757534748
|
0.00001
|
|
NM_000532.5(PCCB):c.654+14G>T
|
rs1457950469
|
0.00001
|
|
NM_000533.5(PLP1):c.696+8G>T
|
rs902326390
|
0.00001
|
|
NM_000535.7(PMS2):c.1344A>T (p.Gly448=)
|
rs759192470
|
0.00001
|
|
NM_000535.7(PMS2):c.1361T>C (p.Leu454Pro)
|
rs772659239
|
0.00001
|
|
NM_000535.7(PMS2):c.1364C>T (p.Ser455Phe)
|
rs748698776
|
0.00001
|
|
NM_000535.7(PMS2):c.1420G>T (p.Ala474Ser)
|
rs373114291
|
0.00001
|
|
NM_000535.7(PMS2):c.1463C>T (p.Ala488Val)
|
rs587779328
|
0.00001
|
|
NM_000535.7(PMS2):c.1552G>A (p.Glu518Lys)
|
rs376142390
|
0.00001
|
|
NM_000535.7(PMS2):c.1602C>G (p.Asp534Glu)
|
rs1554297497
|
0.00001
|
|
NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile)
|
rs63750947
|
0.00001
|
|
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn)
|
rs762100304
|
0.00001
|
|
NM_000535.7(PMS2):c.1765G>C (p.Asp589His)
|
rs749727182
|
0.00001
|
|
NM_000535.7(PMS2):c.1798A>G (p.Met600Val)
|
rs1304634005
|
0.00001
|
|
NM_000535.7(PMS2):c.187G>A (p.Val63Met)
|
rs772216832
|
0.00001
|
|
NM_000535.7(PMS2):c.1928A>G (p.Gln643Arg)
|
rs760629688
|
0.00001
|
|
NM_000535.7(PMS2):c.2035A>G (p.Ile679Val)
|
rs587780047
|
0.00001
|
|
NM_000535.7(PMS2):c.2175-9G>A
|
rs1057522324
|
0.00001
|
|
NM_000535.7(PMS2):c.2365A>T (p.Met789Leu)
|
rs377259633
|
0.00001
|
|
NM_000535.7(PMS2):c.251-9C>G
|
rs1064793639
|
0.00001
|
|
NM_000535.7(PMS2):c.27A>C (p.Thr9=)
|
rs1060504842
|
0.00001
|
|
NM_000535.7(PMS2):c.353+3G>A
|
rs766373982
|
0.00001
|
|
NM_000535.7(PMS2):c.354-5C>G
|
rs200591010
|
0.00001
|
|
NM_000535.7(PMS2):c.354C>T (p.Ser118=)
|
rs760615315
|
0.00001
|
|
NM_000535.7(PMS2):c.386C>T (p.Ala129Val)
|
rs752284380
|
0.00001
|
|
NM_000535.7(PMS2):c.687T>C (p.Ser229=)
|
rs786201508
|
0.00001
|
|
NM_000535.7(PMS2):c.711A>G (p.Gln237=)
|
rs368608818
|
0.00001
|
|
NM_000535.7(PMS2):c.713G>A (p.Ser238Asn)
|
rs1060503111
|
0.00001
|
|
NM_000535.7(PMS2):c.755G>A (p.Cys252Tyr)
|
rs775445157
|
0.00001
|
|
NM_000535.7(PMS2):c.825A>T (p.Gln275His)
|
rs876659736
|
0.00001
|
|
NM_000535.7(PMS2):c.89A>G (p.Gln30Arg)
|
rs56203955
|
0.00001
|
|
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly)
|
rs587782852
|
0.00001
|
|
NM_000535.7(PMS2):c.988+4A>G
|
rs763959308
|
0.00001
|
|
NM_000536.4(RAG2):c.63G>A (p.Leu21=)
|
rs142797325
|
0.00001
|
|
NM_000538.4(RFXAP):c.15T>C (p.Gly5=)
|
rs772887500
|
0.00001
|
|
NM_000540.3(RYR1):c.10018+7C>T
|
rs797045928
|
0.00001
|
|
NM_000540.3(RYR1):c.10154C>T (p.Ala3385Val)
|
rs772566556
|
0.00001
|
|
NM_000540.3(RYR1):c.10170C>T (p.Gly3390=)
|
rs369239179
|
0.00001
|
|
NM_000540.3(RYR1):c.10398C>T (p.Asn3466=)
|
rs1335486327
|
0.00001
|
|
NM_000540.3(RYR1):c.10441-8T>C
|
rs755330618
|
0.00001
|
|
NM_000540.3(RYR1):c.11706A>G (p.Leu3902=)
|
rs776123178
|
0.00001
|
|
NM_000540.3(RYR1):c.11811G>A (p.Ser3937=)
|
rs794727946
|
0.00001
|
|
NM_000540.3(RYR1):c.1218C>T (p.Thr406=)
|
rs3745846
|
0.00001
|
|
NM_000540.3(RYR1):c.12251G>A (p.Arg4084His)
|
rs779380542
|
0.00001
|
|
NM_000540.3(RYR1):c.12406C>A (p.Arg4136Ser)
|
rs193922849
|
0.00001
|
|
NM_000540.3(RYR1):c.12951G>A (p.Val4317=)
|
rs957481378
|
0.00001
|
|
NM_000540.3(RYR1):c.13122G>A (p.Val4374=)
|
rs797045930
|
0.00001
|
|
NM_000540.3(RYR1):c.13747-4T>G
|
rs1287127447
|
0.00001
|
|
NM_000540.3(RYR1):c.14129+10C>A
|
rs546280470
|
0.00001
|
|
NM_000540.3(RYR1):c.1440G>A (p.Glu480=)
|
rs989350448
|
0.00001
|
|
NM_000540.3(RYR1):c.14706C>T (p.Ile4902=)
|
rs886054411
|
0.00001
|
|
NM_000540.3(RYR1):c.14869-5C>G
|
rs1199304403
|
0.00001
|
|
NM_000540.3(RYR1):c.14940G>A (p.Thr4980=)
|
rs765570755
|
0.00001
|
|
NM_000540.3(RYR1):c.1792-8A>T
|
rs746765869
|
0.00001
|
|
NM_000540.3(RYR1):c.1909A>G (p.Ile637Val)
|
rs567084532
|
0.00001
|
|
NM_000540.3(RYR1):c.199G>A (p.Val67Ile)
|
rs761182247
|
0.00001
|
|
NM_000540.3(RYR1):c.2037C>A (p.Thr679=)
|
rs571569206
|
0.00001
|
|
NM_000540.3(RYR1):c.2361-4C>G
|
rs753918895
|
0.00001
|
|
NM_000540.3(RYR1):c.255G>T (p.Val85=)
|
rs532101469
|
0.00001
|
|
NM_000540.3(RYR1):c.2646G>A (p.Ala882=)
|
rs375163703
|
0.00001
|
|
NM_000540.3(RYR1):c.2682+13C>T
|
rs745844424
|
0.00001
|
|
NM_000540.3(RYR1):c.2823G>A (p.Ala941=)
|
rs750305530
|
0.00001
|
|
NM_000540.3(RYR1):c.3431C>T (p.Pro1144Leu)
|
rs201940876
|
0.00001
|
|
NM_000540.3(RYR1):c.3981C>G (p.Pro1327=)
|
rs763082630
|
0.00001
|
|
NM_000540.3(RYR1):c.4056G>A (p.Ala1352=)
|
rs915321867
|
0.00001
|
|
NM_000540.3(RYR1):c.408G>A (p.Leu136=)
|
rs756918282
|
0.00001
|
|
NM_000540.3(RYR1):c.4230C>T (p.Leu1410=)
|
rs750872878
|
0.00001
|
|
NM_000540.3(RYR1):c.4454+6G>A
|
rs771877667
|
0.00001
|
|
NM_000540.3(RYR1):c.4488C>T (p.Gly1496=)
|
rs886038331
|
0.00001
|
|
NM_000540.3(RYR1):c.4533G>A (p.Thr1511=)
|
rs147901772
|
0.00001
|
|
NM_000540.3(RYR1):c.4650C>T (p.Ala1550=)
|
rs200600174
|
0.00001
|
|
NM_000540.3(RYR1):c.4782G>A (p.Leu1594=)
|
rs1064797239
|
0.00001
|
|
NM_000540.3(RYR1):c.5019C>T (p.Cys1673=)
|
rs543026464
|
0.00001
|
|
NM_000540.3(RYR1):c.5548-9G>T
|
rs776320867
|
0.00001
|
|
NM_000540.3(RYR1):c.6016-5C>G
|
rs369996114
|
0.00001
|
|
NM_000540.3(RYR1):c.624C>T (p.Cys208=)
|
rs746914281
|
0.00001
|
|
NM_000540.3(RYR1):c.6407G>A (p.Arg2136His)
|
rs530885842
|
0.00001
|
|
NM_000540.3(RYR1):c.6549-8G>A
|
rs756593088
|
0.00001
|
|
NM_000540.3(RYR1):c.6797-7C>T
|
rs994688451
|
0.00001
|
|
NM_000540.3(RYR1):c.7029C>T (p.Gly2343=)
|
rs138617219
|
0.00001
|
|
NM_000540.3(RYR1):c.7385C>T (p.Pro2462Leu)
|
rs551223467
|
0.00001
|
|
NM_000540.3(RYR1):c.7422G>A (p.Leu2474=)
|
rs758872814
|
0.00001
|
|
NM_000540.3(RYR1):c.7446T>C (p.Asp2482=)
|
rs374058542
|
0.00001
|
|
NM_000540.3(RYR1):c.7608G>A (p.Leu2536=)
|
rs201686887
|
0.00001
|
|
NM_000540.3(RYR1):c.7842C>T (p.Ile2614=)
|
rs777420696
|
0.00001
|
|
NM_000540.3(RYR1):c.7857G>A (p.Leu2619=)
|
rs547048377
|
0.00001
|
|
NM_000540.3(RYR1):c.7896C>A (p.Ile2632=)
|
rs201090618
|
0.00001
|
|
NM_000540.3(RYR1):c.8082G>A (p.Glu2694=)
|
rs745619519
|
0.00001
|
|
NM_000540.3(RYR1):c.8514A>C (p.Lys2838Asn)
|
rs140171924
|
0.00001
|
|
NM_000540.3(RYR1):c.9001-8G>A
|
rs768611849
|
0.00001
|
|
NM_000540.3(RYR1):c.9096T>A (p.Ser3032=)
|
rs144067910
|
0.00001
|
|
NM_000540.3(RYR1):c.9122+7C>T
|
rs199667629
|
0.00001
|
|
NM_000540.3(RYR1):c.9472+9G>A
|
rs1392237616
|
0.00001
|
|
NM_000540.3(RYR1):c.9571G>A (p.Gly3191Arg)
|
rs756331568
|
0.00001
|
|
NM_000540.3(RYR1):c.9685+8G>T
|
rs752615788
|
0.00001
|
|
NM_000540.3(RYR1):c.9732G>A (p.Pro3244=)
|
rs764290955
|
0.00001
|
|
NM_000540.3(RYR1):c.975C>T (p.Ala325=)
|
rs751251863
|
0.00001
|
|
NM_000543.5(SMPD1):c.1341-9T>C
|
rs528939343
|
0.00001
|
|
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe)
|
rs200652683
|
0.00001
|
|
NM_000543.5(SMPD1):c.1692C>T (p.Gly564=)
|
rs369787650
|
0.00001
|
|
NM_000543.5(SMPD1):c.319-5T>C
|
rs958654789
|
0.00001
|
|
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu)
|
rs556155962
|
0.00001
|
|
NM_000545.8(HNF1A):c.713+14C>T
|
rs193922601
|
0.00001
|
|
NM_000545.8(HNF1A):c.780G>A (p.Thr260=)
|
rs749633685
|
0.00001
|
|
NM_000546.6(TP53):c.1025G>A (p.Arg342Gln)
|
rs375338359
|
0.00001
|
|
NM_000546.6(TP53):c.1048C>G (p.Leu350Val)
|
rs768046010
|
0.00001
|
|
NM_000546.6(TP53):c.1066G>C (p.Gly356Arg)
|
rs766786605
|
0.00001
|
|
NM_000546.6(TP53):c.1078G>A (p.Gly360Arg)
|
rs786203298
|
0.00001
|
|
NM_000546.6(TP53):c.1136G>A (p.Arg379His)
|
rs863224682
|
0.00001
|
|
NM_000546.6(TP53):c.1150A>G (p.Met384Val)
|
rs730882009
|
0.00001
|
|
NM_000546.6(TP53):c.1151T>C (p.Met384Thr)
|
rs1060501196
|
0.00001
|
|
NM_000546.6(TP53):c.145G>A (p.Asp49Asn)
|
rs587780728
|
0.00001
|
|
NM_000546.6(TP53):c.14A>G (p.Gln5Arg)
|
rs781595324
|
0.00001
|
|
NM_000546.6(TP53):c.171C>A (p.Asp57Glu)
|
rs587782776
|
0.00001
|
|
NM_000546.6(TP53):c.188C>T (p.Ala63Val)
|
rs372201428
|
0.00001
|
|
NM_000546.6(TP53):c.21T>A (p.Asp7Glu)
|
rs587781277
|
0.00001
|
|
NM_000546.6(TP53):c.221C>T (p.Ala74Val)
|
rs587781832
|
0.00001
|
|
NM_000546.6(TP53):c.229C>T (p.Pro77Ser)
|
rs753085009
|
0.00001
|
|
NM_000546.6(TP53):c.245C>T (p.Pro82Leu)
|
rs534447939
|
0.00001
|
|
NM_000546.6(TP53):c.250G>A (p.Ala84Thr)
|
rs587781307
|
0.00001
|
|
NM_000546.6(TP53):c.289G>T (p.Val97Phe)
|
rs730882023
|
0.00001
|
|
NM_000546.6(TP53):c.341T>C (p.Leu114Ser)
|
rs781724995
|
0.00001
|
|
NM_000546.6(TP53):c.346T>G (p.Ser116Ala)
|
rs989692988
|
0.00001
|
|
NM_000546.6(TP53):c.353C>T (p.Thr118Ile)
|
rs1064794141
|
0.00001
|
|
NM_000546.6(TP53):c.370T>A (p.Cys124Ser)
|
rs730881997
|
0.00001
|
|
NM_000546.6(TP53):c.376-2dup
|
rs751253294
|
0.00001
|
|
NM_000546.6(TP53):c.399G>A (p.Met133Ile)
|
rs1064795139
|
0.00001
|
|
NM_000546.6(TP53):c.463A>G (p.Thr155Ala)
|
rs772683278
|
0.00001
|
|
NM_000546.6(TP53):c.480G>A (p.Met160Ile)
|
rs772354334
|
0.00001
|
|
NM_000546.6(TP53):c.4G>A (p.Glu2Lys)
|
rs769884991
|
0.00001
|
|
NM_000546.6(TP53):c.556G>A (p.Asp186Asn)
|
rs1060501206
|
0.00001
|
|
NM_000546.6(TP53):c.566C>T (p.Ala189Val)
|
rs121912665
|
0.00001
|
|
NM_000546.6(TP53):c.572C>G (p.Pro191Arg)
|
rs587778718
|
0.00001
|
|
NM_000546.6(TP53):c.604C>T (p.Arg202Cys)
|
rs587780072
|
0.00001
|
|
NM_000546.6(TP53):c.74+9A>C
|
rs1057517593
|
0.00001
|
|
NM_000546.6(TP53):c.760A>G (p.Ile254Val)
|
rs746601313
|
0.00001
|
|
NM_000546.6(TP53):c.783-10T>C
|
rs377590379
|
0.00001
|
|
NM_000546.6(TP53):c.850A>T (p.Thr284Ser)
|
rs1204379654
|
0.00001
|
|
NM_000546.6(TP53):c.851C>T (p.Thr284Ile)
|
rs863224685
|
0.00001
|
|
NM_000546.6(TP53):c.861G>C (p.Glu287Asp)
|
rs748891343
|
0.00001
|
|
NM_000546.6(TP53):c.875A>G (p.Lys292Arg)
|
rs121912663
|
0.00001
|
|
NM_000546.6(TP53):c.877G>T (p.Gly293Trp)
|
rs587780076
|
0.00001
|
|
NM_000546.6(TP53):c.884C>T (p.Pro295Leu)
|
rs751713111
|
0.00001
|
|
NM_000546.6(TP53):c.907A>G (p.Ser303Gly)
|
rs587782391
|
0.00001
|
|
NM_000546.6(TP53):c.919+7A>C
|
rs199527475
|
0.00001
|
|
NM_000546.6(TP53):c.943T>A (p.Ser315Thr)
|
rs762620193
|
0.00001
|
|
NM_000546.6(TP53):c.949C>A (p.Gln317Lys)
|
rs764735889
|
0.00001
|
|
NM_000546.6(TP53):c.96+15T>C
|
rs200053580
|
0.00001
|
|
NM_000546.6(TP53):c.970G>C (p.Asp324His)
|
rs1064794810
|
0.00001
|
|
NM_000546.6(TP53):c.974G>T (p.Gly325Val)
|
rs121912659
|
0.00001
|
|
NM_000548.5(TSC2):c.*4C>T
|
rs368282661
|
0.00001
|
|
NM_000548.5(TSC2):c.106A>G (p.Thr36Ala)
|
rs757113497
|
0.00001
|
|
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val)
|
rs796053483
|
0.00001
|
|
NM_000548.5(TSC2):c.1366G>A (p.Glu456Lys)
|
rs397515142
|
0.00001
|
|
NM_000548.5(TSC2):c.1373G>A (p.Arg458Gln)
|
rs878854077
|
0.00001
|
|
NM_000548.5(TSC2):c.1492G>A (p.Glu498Lys)
|
rs45517178
|
0.00001
|
|
NM_000548.5(TSC2):c.1514G>A (p.Arg505Gln)
|
rs376285784
|
0.00001
|
|
NM_000548.5(TSC2):c.152A>C (p.Glu51Ala)
|
rs772617064
|
0.00001
|
|
NM_000548.5(TSC2):c.1661C>T (p.Ser554Leu)
|
rs45471596
|
0.00001
|
|
NM_000548.5(TSC2):c.1678G>A (p.Val560Met)
|
rs141631268
|
0.00001
|
|
NM_000548.5(TSC2):c.1754G>A (p.Arg585His)
|
rs397515063
|
0.00001
|
|
NM_000548.5(TSC2):c.1944C>T (p.Tyr648=)
|
rs878925198
|
0.00001
|
|
NM_000548.5(TSC2):c.1945A>G (p.Met649Val)
|
rs762331610
|
0.00001
|
|
NM_000548.5(TSC2):c.2035G>A (p.Val679Met)
|
rs746315218
|
0.00001
|
|
NM_000548.5(TSC2):c.2046G>A (p.Gly682=)
|
rs749536123
|
0.00001
|
|
NM_000548.5(TSC2):c.2097+5G>C
|
rs977777731
|
0.00001
|
|
NM_000548.5(TSC2):c.2128C>T (p.Leu710=)
|
rs1225700612
|
0.00001
|
|
NM_000548.5(TSC2):c.213G>T (p.Lys71Asn)
|
rs766200310
|
0.00001
|
|
NM_000548.5(TSC2):c.2220+5C>T
|
rs1164941572
|
0.00001
|
|
NM_000548.5(TSC2):c.2330A>G (p.His777Arg)
|
rs759528809
|
0.00001
|
|
NM_000548.5(TSC2):c.2395C>T (p.Arg799Cys)
|
rs1366556255
|
0.00001
|
|
NM_000548.5(TSC2):c.2416G>A (p.Val806Met)
|
rs796053473
|
0.00001
|
|
NM_000548.5(TSC2):c.2467C>T (p.Leu823=)
|
rs554509064
|
0.00001
|
|
NM_000548.5(TSC2):c.2521G>A (p.Val841Ile)
|
rs549612492
|
0.00001
|
|
NM_000548.5(TSC2):c.2553C>T (p.Ala851=)
|
rs745687916
|
0.00001
|
|
NM_000548.5(TSC2):c.256G>A (p.Ala86Thr)
|
rs1190158836
|
0.00001
|
|
NM_000548.5(TSC2):c.2586G>A (p.Ala862=)
|
rs752865665
|
0.00001
|
|
NM_000548.5(TSC2):c.2701C>T (p.Arg901Cys)
|
rs796053512
|
0.00001
|
|
NM_000548.5(TSC2):c.2742+3G>A
|
rs373935836
|
0.00001
|
|
NM_000548.5(TSC2):c.2743-4C>T
|
rs1258692002
|
0.00001
|
|
NM_000548.5(TSC2):c.2761C>G (p.Leu921Val)
|
rs201835391
|
0.00001
|
|
NM_000548.5(TSC2):c.2823C>T (p.Asn941=)
|
rs750806272
|
0.00001
|
|
NM_000548.5(TSC2):c.2882C>T (p.Pro961Leu)
|
rs370415754
|
0.00001
|
|
NM_000548.5(TSC2):c.3088A>G (p.Met1030Val)
|
rs754276150
|
0.00001
|
|
NM_000548.5(TSC2):c.3209C>T (p.Thr1070Met)
|
rs147989574
|
0.00001
|
|
NM_000548.5(TSC2):c.3284+6T>G
|
rs375837026
|
0.00001
|
|
NM_000548.5(TSC2):c.3293C>T (p.Pro1098Leu)
|
rs773545852
|
0.00001
|
|
NM_000548.5(TSC2):c.3300G>A (p.Val1100=)
|
rs765436350
|
0.00001
|
|
NM_000548.5(TSC2):c.3366T>C (p.Arg1122=)
|
rs778352969
|
0.00001
|
|
NM_000548.5(TSC2):c.3397+15C>T
|
rs202246408
|
0.00001
|
|
NM_000548.5(TSC2):c.3521G>A (p.Arg1174Gln)
|
rs368666554
|
0.00001
|
|
NM_000548.5(TSC2):c.3538A>G (p.Lys1180Glu)
|
rs751708490
|
0.00001
|
|
NM_000548.5(TSC2):c.3815-1G>A
|
rs2090256621
|
0.00001
|
|
NM_000548.5(TSC2):c.3918C>T (p.Gly1306=)
|
rs368712041
|
0.00001
|
|
NM_000548.5(TSC2):c.3955G>A (p.Asp1319Asn)
|
rs375883030
|
0.00001
|
|
NM_000548.5(TSC2):c.4037C>T (p.Ser1346Leu)
|
rs45517326
|
0.00001
|
|
NM_000548.5(TSC2):c.4046C>T (p.Ala1349Val)
|
rs201979616
|
0.00001
|
|
NM_000548.5(TSC2):c.4074C>T (p.Pro1358=)
|
rs144098854
|
0.00001
|
|
NM_000548.5(TSC2):c.4078G>A (p.Glu1360Lys)
|
rs397514997
|
0.00001
|
|
NM_000548.5(TSC2):c.4176G>A (p.Gln1392=)
|
rs749930791
|
0.00001
|
|
NM_000548.5(TSC2):c.4260A>G (p.Ser1420=)
|
rs1285012780
|
0.00001
|
|
NM_000548.5(TSC2):c.4273G>A (p.Gly1425Arg)
|
rs763497329
|
0.00001
|
|
NM_000548.5(TSC2):c.4414G>A (p.Gly1472Ser)
|
rs558737770
|
0.00001
|
|
NM_000548.5(TSC2):c.4534G>A (p.Asp1512Asn)
|
rs774441486
|
0.00001
|
|
NM_000548.5(TSC2):c.4570-3C>T
|
rs1166715944
|
0.00001
|
|
NM_000548.5(TSC2):c.4577C>A (p.Ser1526Tyr)
|
rs796053498
|
0.00001
|
|
NM_000548.5(TSC2):c.4617A>G (p.Ser1539=)
|
rs201038907
|
0.00001
|
|
NM_000548.5(TSC2):c.4621G>A (p.Asp1541Asn)
|
rs796872464
|
0.00001
|
|
NM_000548.5(TSC2):c.4746C>T (p.Ile1582=)
|
rs751305758
|
0.00001
|
|
NM_000548.5(TSC2):c.4888G>A (p.Val1630Met)
|
rs886051796
|
0.00001
|
|
NM_000548.5(TSC2):c.4950C>T (p.Tyr1650=)
|
rs1283177454
|
0.00001
|
|
NM_000548.5(TSC2):c.5011G>A (p.Val1671Met)
|
rs775395648
|
0.00001
|
|
NM_000548.5(TSC2):c.5029G>A (p.Asp1677Asn)
|
rs1163037065
|
0.00001
|
|
NM_000548.5(TSC2):c.5069-11A>G
|
rs562381623
|
0.00001
|
|
NM_000548.5(TSC2):c.5069-5C>T
|
rs762149472
|
0.00001
|
|
NM_000548.5(TSC2):c.5135C>T (p.Ala1712Val)
|
rs45517394
|
0.00001
|
|
NM_000548.5(TSC2):c.5161A>G (p.Met1721Val)
|
rs45517407
|
0.00001
|
|
NM_000548.5(TSC2):c.5203A>G (p.Ile1735Val)
|
rs781407050
|
0.00001
|
|
NM_000548.5(TSC2):c.5305C>T (p.His1769Tyr)
|
rs1555441265
|
0.00001
|
|
NM_000548.5(TSC2):c.5318A>G (p.His1773Arg)
|
rs45517418
|
0.00001
|
|
NM_000548.5(TSC2):c.5332G>A (p.Ala1778Thr)
|
rs1245934608
|
0.00001
|
|
NM_000548.5(TSC2):c.5336A>G (p.Gln1779Arg)
|
rs748947919
|
0.00001
|
|
NM_000548.5(TSC2):c.5389A>C (p.Ile1797Leu)
|
rs796053479
|
0.00001
|
|
NM_000548.5(TSC2):c.576C>T (p.Asp192=)
|
rs761704292
|
0.00001
|
|
NM_000548.5(TSC2):c.622C>T (p.Arg208Trp)
|
rs374410454
|
0.00001
|
|
NM_000548.5(TSC2):c.629C>T (p.Ala210Val)
|
rs764925296
|
0.00001
|
|
NM_000548.5(TSC2):c.743A>G (p.Asn248Ser)
|
rs762104739
|
0.00001
|
|
NM_000548.5(TSC2):c.849-6T>G
|
rs886038358
|
0.00001
|
|
NM_000548.5(TSC2):c.849-8A>G
|
rs765336852
|
0.00001
|
|
NM_000548.5(TSC2):c.857T>C (p.Met286Thr)
|
rs45517136
|
0.00001
|
|
NM_000548.5(TSC2):c.886G>A (p.Val296Met)
|
rs747237113
|
0.00001
|
|
NM_000548.5(TSC2):c.893T>C (p.Phe298Ser)
|
rs747310967
|
0.00001
|
|
NM_000548.5(TSC2):c.944C>T (p.Ser315Leu)
|
rs202082319
|
0.00001
|
|
NM_000548.5(TSC2):c.947C>A (p.Pro316Gln)
|
rs751490043
|
0.00001
|
|
NM_000551.4(VHL):c.-12_2dup (p.Met1fs)
|
rs886041253
|
0.00001
|
|
NM_000551.4(VHL):c.172C>T (p.Arg58Trp)
|
rs757781272
|
0.00001
|
|
NM_000551.4(VHL):c.298A>G (p.Thr100Ala)
|
rs745901803
|
0.00001
|
|
NM_000551.4(VHL):c.373C>T (p.His125Tyr)
|
rs375401722
|
0.00001
|
|
NM_000551.4(VHL):c.538A>G (p.Ile180Val)
|
rs377715747
|
0.00001
|
|
NM_000551.4(VHL):c.544A>G (p.Arg182Gly)
|
rs778205243
|
0.00001
|
|
NM_000553.6(WRN):c.2088+6C>T
|
rs886062888
|
0.00001
|
|
NM_000553.6(WRN):c.219A>G (p.Leu73=)
|
rs566693857
|
0.00001
|
|
NM_000553.6(WRN):c.2985C>T (p.Ala995=)
|
rs150095039
|
0.00001
|
|
NM_000553.6(WRN):c.3162T>C (p.Ala1054=)
|
rs111426441
|
0.00001
|
|
NM_000553.6(WRN):c.3483A>T (p.Val1161=)
|
rs1292940121
|
0.00001
|
|
NM_000553.6(WRN):c.655-20A>G
|
rs1056118121
|
0.00001
|
|
NM_000558.3(HBA1):c.341T>A (p.Leu114His)
|
rs35654345
|
0.00001
|
|
NM_000558.5(HBA1):c.62A>C (p.His21Pro)
|
rs33943087
|
0.00001
|
|
NM_000558.5(HBA1):c.63C>A (p.His21Gln)
|
rs281864502
|
0.00001
|
|
NM_000601.6(HGF):c.1627G>T (p.Asp543Tyr)
|
rs769438908
|
0.00001
|
|
NM_000601.6(HGF):c.6G>T (p.Trp2Cys)
|
rs745851853
|
0.00001
|
|
NM_000628.5(IL10RB):c.647-14A>C
|
rs45526732
|
0.00001
|
|
NM_000639.3(FASLG):c.452-12G>A
|
rs759351686
|
0.00001
|
|
NM_000642.3(AGL):c.1082+4T>A
|
rs781204563
|
0.00001
|
|
NM_000642.3(AGL):c.1284-12A>C
|
rs886044918
|
0.00001
|
|
NM_000642.3(AGL):c.1432G>A (p.Val478Ile)
|
rs527819721
|
0.00001
|
|
NM_000642.3(AGL):c.1650A>G (p.Leu550=)
|
rs778806512
|
0.00001
|
|
NM_000642.3(AGL):c.2002-5T>A
|
rs201718705
|
0.00001
|
|
NM_000642.3(AGL):c.318C>T (p.Tyr106=)
|
rs376885398
|
0.00001
|
|
NM_000642.3(AGL):c.3642C>T (p.Gly1214=)
|
rs1261746082
|
0.00001
|
|
NM_000642.3(AGL):c.3771C>T (p.Gly1257=)
|
rs760738241
|
0.00001
|
|
NM_000642.3(AGL):c.3894G>A (p.Leu1298=)
|
rs769025250
|
0.00001
|
|
NM_000642.3(AGL):c.4341A>G (p.Gln1447=)
|
rs376486225
|
0.00001
|
|
NM_000642.3(AGL):c.4362T>C (p.Pro1454=)
|
rs886044922
|
0.00001
|
|
NM_000642.3(AGL):c.684C>T (p.Ile228=)
|
rs961563586
|
0.00001
|
|
NM_000642.3(AGL):c.958+12A>G
|
rs1227779911
|
0.00001
|
|
NM_000687.4(AHCY):c.219+8C>T
|
rs768480898
|
0.00001
|
|
NM_000687.4(AHCY):c.936C>T (p.Asn312=)
|
rs528770765
|
0.00001
|
|
NM_000701.8(ATP1A1):c.183+3A>G
|
rs775571228
|
0.00001
|
|
NM_000709.4(BCKDHA):c.435C>T (p.Ala145=)
|
rs369278165
|
0.00001
|
|
NM_000719.7(CACNA1C):c.-3T>C
|
rs761790520
|
0.00001
|
|
NM_000719.7(CACNA1C):c.1435G>A (p.Val479Met)
|
rs752677964
|
0.00001
|
|
NM_000719.7(CACNA1C):c.236C>T (p.Thr79Met)
|
rs749031775
|
0.00001
|
|
NM_000719.7(CACNA1C):c.2517C>A (p.Asn839Lys)
|
rs774002530
|
0.00001
|
|
NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr)
|
rs761378545
|
0.00001
|
|
NM_000719.7(CACNA1C):c.3258C>T (p.Ile1086=)
|
rs757290350
|
0.00001
|
|
NM_000719.7(CACNA1C):c.3375C>T (p.Ile1125=)
|
rs398123521
|
0.00001
|
|
NM_000719.7(CACNA1C):c.363C>T (p.Val121=)
|
rs886042281
|
0.00001
|
|
NM_000719.7(CACNA1C):c.5338C>T (p.Arg1780Cys)
|
rs371760034
|
0.00001
|
|
NM_000719.7(CACNA1C):c.5772G>C (p.Leu1924=)
|
rs757373786
|
0.00001
|
|
NM_000719.7(CACNA1C):c.5929G>A (p.Val1977Ile)
|
rs786205741
|
0.00001
|
|
NM_000719.7(CACNA1C):c.6019G>A (p.Ala2007Thr)
|
rs750411964
|
0.00001
|
|
NM_000719.7(CACNA1C):c.6050T>C (p.Met2017Thr)
|
rs786205742
|
0.00001
|
|
NM_000719.7(CACNA1C):c.6090C>T (p.His2030=)
|
rs750835120
|
0.00001
|
|
NM_000719.7(CACNA1C):c.609G>A (p.Val203=)
|
rs1417477759
|
0.00001
|
|
NM_000719.7(CACNA1C):c.792C>A (p.Ala264=)
|
rs750459136
|
0.00001
|
|
NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser)
|
rs535608443
|
0.00001
|
|
NM_000742.4(CHRNA2):c.873C>T (p.Ser291=)
|
rs76140563
|
0.00001
|
|
NM_000744.7(CHRNA4):c.1634C>T (p.Thr545Met)
|
rs121912282
|
0.00001
|
|
NM_000744.7(CHRNA4):c.621C>T (p.Gly207=)
|
rs149407396
|
0.00001
|
|
NM_000751.3(CHRND):c.932+9C>T
|
rs367837942
|
0.00001
|
|
NM_000781.3(CYP11A1):c.567G>A (p.Ala189=)
|
rs770022852
|
0.00001
|
|
NM_000784.4(CYP27A1):c.126A>G (p.Gly42=)
|
rs1238340088
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1503G>A (p.Leu501=)
|
rs1336081746
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1515G>A (p.Thr505=)
|
rs886656814
|
0.00001
|
|
NM_000784.4(CYP27A1):c.256-3C>T
|
rs1559391389
|
0.00001
|
|
NM_000784.4(CYP27A1):c.527A>G (p.Asp176Gly)
|
rs748325824
|
0.00001
|
|
NM_000787.4(DBH):c.921+8C>T
|
rs886063659
|
0.00001
|
|
NM_000824.5(GLRB):c.210G>A (p.Arg70=)
|
rs1440659826
|
0.00001
|
|
NM_000834.5(GRIN2B):c.2011-8C>G
|
rs774971411
|
0.00001
|
|
NM_000834.5(GRIN2B):c.381C>T (p.His127=)
|
rs200608452
|
0.00001
|
|
NM_000834.5(GRIN2B):c.3981G>A (p.Lys1327=)
|
rs201670483
|
0.00001
|
|
NM_000834.5(GRIN2B):c.4049C>T (p.Ala1350Val)
|
rs763372245
|
0.00001
|
|
NM_000836.4(GRIN2D):c.358G>A (p.Asp120Asn)
|
rs1206951756
|
0.00001
|
|
NM_000875.5(IGF1R):c.318C>T (p.Ile106=)
|
rs1267154320
|
0.00001
|
|
NM_000883.4(IMPDH1):c.159C>T (p.Asp53=)
|
rs768265149
|
0.00001
|
|
NM_000890.5(KCNJ5):c.214C>T (p.Arg72Trp)
|
rs757877367
|
0.00001
|
|
NM_000891.3(KCNJ2):c.261C>T (p.Ile87=)
|
rs1166497262
|
0.00001
|
|
NM_000891.3(KCNJ2):c.303T>C (p.Cys101=)
|
rs376921497
|
0.00001
|
|
NM_000891.3(KCNJ2):c.845T>G (p.Leu282Trp)
|
rs758092571
|
0.00001
|
|
NM_000925.4(PDHB):c.1069T>C (p.Leu357=)
|
rs768436316
|
0.00001
|
|
NM_000925.4(PDHB):c.45C>G (p.Val15=)
|
rs747916943
|
0.00001
|
|
NM_001003800.2(BICD2):c.1864C>T (p.Arg622Trp)
|
rs1445290655
|
0.00001
|
|
NM_001003800.2(BICD2):c.2258+6C>T
|
rs566572599
|
0.00001
|
|
NM_001005242.3(PKP2):c.1231G>A (p.Val411Ile)
|
rs192041220
|
0.00001
|
|
NM_001005242.3(PKP2):c.1236G>A (p.Gln412=)
|
rs779749104
|
0.00001
|
|
NM_001005242.3(PKP2):c.1379-5T>C
|
rs189036647
|
0.00001
|
|
NM_001005242.3(PKP2):c.1426A>G (p.Ile476Val)
|
rs763749576
|
0.00001
|
|
NM_001005242.3(PKP2):c.2457G>A (p.Lys819=)
|
rs777477467
|
0.00001
|
|
NM_001005242.3(PKP2):c.473G>A (p.Arg158Lys)
|
rs397517027
|
0.00001
|
|
NM_001005242.3(PKP2):c.484A>G (p.Thr162Ala)
|
rs765195368
|
0.00001
|
|
NM_001005242.3(PKP2):c.837C>T (p.Pro279=)
|
rs572938229
|
0.00001
|
|
NM_001005242.3(PKP2):c.921T>C (p.Ser307=)
|
rs941328238
|
0.00001
|
|
NM_001005361.3(DNM2):c.1782-6C>T
|
rs963604980
|
0.00001
|
|
NM_001005361.3(DNM2):c.1973A>G (p.Asn658Ser)
|
rs753175954
|
0.00001
|
|
NM_001005361.3(DNM2):c.216G>A (p.Gln72=)
|
rs368075301
|
0.00001
|
|
NM_001005361.3(DNM2):c.2201A>G (p.Asn734Ser)
|
rs577767034
|
0.00001
|
|
NM_001005373.4(LRSAM1):c.284C>T (p.Ala95Val)
|
rs570248730
|
0.00001
|
|
NM_001005373.4(LRSAM1):c.362G>A (p.Arg121His)
|
rs143910539
|
0.00001
|
|
NM_001005373.4(LRSAM1):c.972G>A (p.Leu324=)
|
rs940085400
|
0.00001
|
|
NM_001008216.2(GALE):c.192G>A (p.Glu64=)
|
rs748354696
|
0.00001
|
|
NM_001008216.2(GALE):c.238-6C>T
|
rs751079525
|
0.00001
|
|
NM_001008216.2(GALE):c.648G>A (p.Ala216=)
|
rs144723215
|
0.00001
|
|
NM_001008537.3(NEXMIF):c.1757G>C (p.Gly586Ala)
|
rs776845564
|
0.00001
|
|
NM_001017420.3(ESCO2):c.738A>G (p.Val246=)
|
rs886044291
|
0.00001
|
|
NM_001017420.3(ESCO2):c.867A>G (p.Ser289=)
|
rs535236969
|
0.00001
|
|
NM_001018005.2(TPM1):c.774C>T (p.Asp258=)
|
rs762282433
|
0.00001
|
|
NM_001018005.2(TPM1):c.840T>C (p.Asp280=)
|
rs749271066
|
0.00001
|
|
NM_001018113.3(FANCB):c.52T>C (p.Tyr18His)
|
rs996732250
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2004C>G (p.Ser668=)
|
rs138189144
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3285T>C (p.Ser1095=)
|
rs759252565
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3558C>G (p.Leu1186=)
|
rs745765337
|
0.00001
|
|
NM_001022.4(RPS19):c.393G>A (p.Leu131=)
|
rs1447794153
|
0.00001
|
|
NM_001025295.3(IFITM5):c.186+5G>A
|
rs1267542305
|
0.00001
|
|
NM_001032382.2(PQBP1):c.510G>A (p.Arg170=)
|
rs782103312
|
0.00001
|
|
NM_001032382.2(PQBP1):c.539G>A (p.Arg180His)
|
rs907427275
|
0.00001
|
|
NM_001032386.2(SUOX):c.279C>T (p.His93=)
|
rs763253683
|
0.00001
|
|
NM_001032386.2(SUOX):c.507C>T (p.Thr169=)
|
rs765012855
|
0.00001
|
|
NM_001034853.2(RPGR):c.1763A>G (p.Glu588Gly)
|
rs1222240619
|
0.00001
|
|
NM_001034853.2(RPGR):c.2135A>G (p.Gln712Arg)
|
rs749852225
|
0.00001
|
|
NM_001035.3(RYR2):c.10008G>A (p.Glu3336=)
|
rs753175584
|
0.00001
|
|
NM_001035.3(RYR2):c.10125A>G (p.Arg3375=)
|
rs764396074
|
0.00001
|
|
NM_001035.3(RYR2):c.10200T>C (p.Ala3400=)
|
rs779316628
|
0.00001
|
|
NM_001035.3(RYR2):c.10257C>T (p.Phe3419=)
|
rs748715725
|
0.00001
|
|
NM_001035.3(RYR2):c.10551C>A (p.Gly3517=)
|
rs768797598
|
0.00001
|
|
NM_001035.3(RYR2):c.11146-6G>A
|
rs886046277
|
0.00001
|
|
NM_001035.3(RYR2):c.12315C>T (p.Leu4105=)
|
rs184625125
|
0.00001
|
|
NM_001035.3(RYR2):c.12333C>T (p.Asn4111=)
|
rs748716535
|
0.00001
|
|
NM_001035.3(RYR2):c.12627G>A (p.Ser4209=)
|
rs3753631
|
0.00001
|
|
NM_001035.3(RYR2):c.13220G>A (p.Ser4407Asn)
|
rs755585430
|
0.00001
|
|
NM_001035.3(RYR2):c.13326C>T (p.Ala4442=)
|
rs768161152
|
0.00001
|
|
NM_001035.3(RYR2):c.13410C>T (p.Tyr4470=)
|
rs183933829
|
0.00001
|
|
NM_001035.3(RYR2):c.13482T>C (p.Tyr4494=)
|
rs886046279
|
0.00001
|
|
NM_001035.3(RYR2):c.13665C>T (p.Ile4555=)
|
rs375213838
|
0.00001
|
|
NM_001035.3(RYR2):c.14085A>C (p.Ser4695=)
|
rs758566439
|
0.00001
|
|
NM_001035.3(RYR2):c.1444C>T (p.Leu482=)
|
rs117903753
|
0.00001
|
|
NM_001035.3(RYR2):c.14808+12A>C
|
rs886046281
|
0.00001
|
|
NM_001035.3(RYR2):c.1527C>T (p.Ser509=)
|
rs886042568
|
0.00001
|
|
NM_001035.3(RYR2):c.2175T>C (p.Tyr725=)
|
rs758813812
|
0.00001
|
|
NM_001035.3(RYR2):c.2223A>G (p.Val741=)
|
rs117242563
|
0.00001
|
|
NM_001035.3(RYR2):c.2719-4T>A
|
rs397516523
|
0.00001
|
|
NM_001035.3(RYR2):c.2808G>A (p.Ser936=)
|
rs1057521205
|
0.00001
|
|
NM_001035.3(RYR2):c.3067-14G>C
|
rs757471501
|
0.00001
|
|
NM_001035.3(RYR2):c.3105C>T (p.Tyr1035=)
|
rs747358776
|
0.00001
|
|
NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys)
|
rs533330664
|
0.00001
|
|
NM_001035.3(RYR2):c.3729A>C (p.Thr1243=)
|
rs536080941
|
0.00001
|
|
NM_001035.3(RYR2):c.4241G>A (p.Arg1414Gln)
|
rs727504850
|
0.00001
|
|
NM_001035.3(RYR2):c.4626G>A (p.Ala1542=)
|
rs1272771676
|
0.00001
|
|
NM_001035.3(RYR2):c.463+10T>C
|
rs193922627
|
0.00001
|
|
NM_001035.3(RYR2):c.463+6C>T
|
rs397516533
|
0.00001
|
|
NM_001035.3(RYR2):c.4752G>A (p.Pro1584=)
|
rs780111656
|
0.00001
|
|
NM_001035.3(RYR2):c.5763G>A (p.Arg1921=)
|
rs886046270
|
0.00001
|
|
NM_001035.3(RYR2):c.6346A>G (p.Thr2116Ala)
|
rs780707255
|
0.00001
|
|
NM_001035.3(RYR2):c.6688+13C>A
|
rs1262322008
|
0.00001
|
|
NM_001035.3(RYR2):c.7443A>G (p.Gln2481=)
|
rs759314800
|
0.00001
|
|
NM_001035.3(RYR2):c.8736G>A (p.Leu2912=)
|
rs762521873
|
0.00001
|
|
NM_001035.3(RYR2):c.8896-9T>C
|
rs773401697
|
0.00001
|
|
NM_001035.3(RYR2):c.9927A>G (p.Lys3309=)
|
rs184937795
|
0.00001
|
|
NM_001035.3(RYR2):c.9995C>T (p.Thr3332Met)
|
rs774437805
|
0.00001
|
|
NM_001037.5(SCN1B):c.150C>T (p.Asn50=)
|
rs147073518
|
0.00001
|
|
NM_001037.5(SCN1B):c.266G>A (p.Arg89His)
|
rs138381632
|
0.00001
|
|
NM_001037.5(SCN1B):c.273G>A (p.Val91=)
|
rs16969926
|
0.00001
|
|
NM_001037.5(SCN1B):c.640G>A (p.Val214Ile)
|
rs77106213
|
0.00001
|
|
NM_001038603.3(MARVELD2):c.1059A>G (p.Ile353Met)
|
rs727503158
|
0.00001
|
|
NM_001039141.3(TRIOBP):c.-3A>G
|
rs779160270
|
0.00001
|
|
NM_001039876.3(SYNE4):c.972+5G>A
|
rs369269989
|
0.00001
|
|
NM_001040108.2(MLH3):c.1125T>C (p.Asp375=)
|
rs781394261
|
0.00001
|
|
NM_001040108.2(MLH3):c.3384T>C (p.Thr1128=)
|
rs370951929
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2016+10A>G
|
rs886042771
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2046G>T (p.Lys682Asn)
|
rs756493732
|
0.00001
|
|
NM_001040142.2(SCN2A):c.2236T>G (p.Leu746Val)
|
rs772195737
|
0.00001
|
|
NM_001040142.2(SCN2A):c.3210C>T (p.Asp1070=)
|
rs187731029
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5319G>A (p.Ala1773=)
|
rs373913233
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5427G>A (p.Ala1809=)
|
rs1177406324
|
0.00001
|
|
NM_001040142.2(SCN2A):c.5580T>G (p.Ala1860=)
|
rs752845880
|
0.00001
|
|
NM_001040436.3(YARS2):c.*230A>G
|
rs371690622
|
0.00001
|
|
NM_001040436.3(YARS2):c.234T>C (p.Cys78=)
|
rs565102282
|
0.00001
|
|
NM_001040716.2(PC):c.3148-14C>T
|
rs773784306
|
0.00001
|
|
NM_001040716.2(PC):c.78C>A (p.Ser26=)
|
rs1161512784
|
0.00001
|
|
NM_001040716.2(PC):c.927C>T (p.Thr309=)
|
rs373717650
|
0.00001
|
|
NM_001042472.3(ABHD12):c.66C>T (p.Ser22=)
|
rs1261172926
|
0.00001
|
|
NM_001042492.3(NF1):c.1082G>C (p.Ser361Thr)
|
rs876660103
|
0.00001
|
|
NM_001042492.3(NF1):c.1392G>A (p.Pro464=)
|
rs201604273
|
0.00001
|
|
NM_001042492.3(NF1):c.1413A>G (p.Lys471=)
|
rs1309932338
|
0.00001
|
|
NM_001042492.3(NF1):c.1541A>C (p.Gln514Pro)
|
rs775369084
|
0.00001
|
|
NM_001042492.3(NF1):c.1801C>T (p.Arg601Trp)
|
rs587782592
|
0.00001
|
|
NM_001042492.3(NF1):c.1921A>G (p.Ser641Gly)
|
rs769154907
|
0.00001
|
|
NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg)
|
rs140653372
|
0.00001
|
|
NM_001042492.3(NF1):c.2248A>G (p.Thr750Ala)
|
rs748064845
|
0.00001
|
|
NM_001042492.3(NF1):c.2251+5A>G
|
rs786201934
|
0.00001
|
|
NM_001042492.3(NF1):c.2409+5G>A
|
rs763688567
|
0.00001
|
|
NM_001042492.3(NF1):c.2410-8G>A
|
rs1060500270
|
0.00001
|
|
NM_001042492.3(NF1):c.2573C>G (p.Ser858Cys)
|
rs369493270
|
0.00001
|
|
NM_001042492.3(NF1):c.2581G>C (p.Ala861Pro)
|
rs768425956
|
0.00001
|
|
NM_001042492.3(NF1):c.2622G>A (p.Lys874=)
|
rs77917884
|
0.00001
|
|
NM_001042492.3(NF1):c.3303G>A (p.Gln1101=)
|
rs876659944
|
0.00001
|
|
NM_001042492.3(NF1):c.3315-5C>T
|
rs1266211447
|
0.00001
|
|
NM_001042492.3(NF1):c.354C>T (p.Cys118=)
|
rs768777585
|
0.00001
|
|
NM_001042492.3(NF1):c.3619A>C (p.Arg1207=)
|
rs202208560
|
0.00001
|
|
NM_001042492.3(NF1):c.3732T>A (p.Val1244=)
|
rs756653022
|
0.00001
|
|
NM_001042492.3(NF1):c.3871-4G>C
|
rs558421445
|
0.00001
|
|
NM_001042492.3(NF1):c.3891A>G (p.Leu1297=)
|
rs753036396
|
0.00001
|
|
NM_001042492.3(NF1):c.3916C>A (p.Arg1306=)
|
rs376576925
|
0.00001
|
|
NM_001042492.3(NF1):c.4055G>C (p.Ser1352Thr)
|
rs876660908
|
0.00001
|
|
NM_001042492.3(NF1):c.4421C>T (p.Ala1474Val)
|
rs587781553
|
0.00001
|
|
NM_001042492.3(NF1):c.475A>G (p.Thr159Ala)
|
rs371192107
|
0.00001
|
|
NM_001042492.3(NF1):c.4766C>T (p.Thr1589Met)
|
rs185660700
|
0.00001
|
|
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val)
|
rs199474766
|
0.00001
|
|
NM_001042492.3(NF1):c.5098C>T (p.Leu1700Phe)
|
rs775786295
|
0.00001
|
|
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp)
|
rs773378630
|
0.00001
|
|
NM_001042492.3(NF1):c.5290G>A (p.Val1764Ile)
|
rs778427434
|
0.00001
|
|
NM_001042492.3(NF1):c.5407A>G (p.Ile1803Val)
|
rs559910904
|
0.00001
|
|
NM_001042492.3(NF1):c.551A>G (p.Asn184Ser)
|
rs876659849
|
0.00001
|
|
NM_001042492.3(NF1):c.5610-4C>G
|
rs1419030713
|
0.00001
|
|
NM_001042492.3(NF1):c.575G>A (p.Arg192Gln)
|
rs587781670
|
0.00001
|
|
NM_001042492.3(NF1):c.584A>G (p.Lys195Arg)
|
rs587778552
|
0.00001
|
|
NM_001042492.3(NF1):c.587-3C>T
|
rs375188075
|
0.00001
|
|
NM_001042492.3(NF1):c.6006+4T>C
|
rs754909198
|
0.00001
|
|
NM_001042492.3(NF1):c.6442G>A (p.Val2148Ile)
|
rs770993581
|
0.00001
|
|
NM_001042492.3(NF1):c.6665C>T (p.Thr2222Met)
|
rs369803831
|
0.00001
|
|
NM_001042492.3(NF1):c.6672G>A (p.Lys2224=)
|
rs771835288
|
0.00001
|
|
NM_001042492.3(NF1):c.6806G>A (p.Arg2269His)
|
rs562367786
|
0.00001
|
|
NM_001042492.3(NF1):c.681T>C (p.Tyr227=)
|
rs745804540
|
0.00001
|
|
NM_001042492.3(NF1):c.6837A>C (p.Leu2279Phe)
|
rs144287929
|
0.00001
|
|
NM_001042492.3(NF1):c.7110C>T (p.His2370=)
|
rs201881479
|
0.00001
|
|
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val)
|
rs565708398
|
0.00001
|
|
NM_001042492.3(NF1):c.7298C>T (p.Thr2433Ile)
|
rs755749772
|
0.00001
|
|
NM_001042492.3(NF1):c.7326A>G (p.Leu2442=)
|
rs753224880
|
0.00001
|
|
NM_001042492.3(NF1):c.7359C>T (p.Cys2453=)
|
rs1555536126
|
0.00001
|
|
NM_001042492.3(NF1):c.7394A>G (p.Asp2465Gly)
|
rs143474365
|
0.00001
|
|
NM_001042492.3(NF1):c.7396A>G (p.Ile2466Val)
|
rs748027595
|
0.00001
|
|
NM_001042492.3(NF1):c.7402A>G (p.Met2468Val)
|
rs151211377
|
0.00001
|
|
NM_001042492.3(NF1):c.7534G>A (p.Gly2512Ser)
|
rs766496842
|
0.00001
|
|
NM_001042492.3(NF1):c.7616-15A>C
|
rs952554990
|
0.00001
|
|
NM_001042492.3(NF1):c.7645T>C (p.Ser2549Pro)
|
rs767458044
|
0.00001
|
|
NM_001042492.3(NF1):c.7742C>G (p.Thr2581Ser)
|
rs757632129
|
0.00001
|
|
NM_001042492.3(NF1):c.7780C>T (p.Arg2594Cys)
|
rs372787215
|
0.00001
|
|
NM_001042492.3(NF1):c.7837C>T (p.Pro2613Ser)
|
rs138839077
|
0.00001
|
|
NM_001042492.3(NF1):c.7841A>G (p.Lys2614Arg)
|
rs587781502
|
0.00001
|
|
NM_001042492.3(NF1):c.7889C>G (p.Thr2630Ser)
|
rs1283946778
|
0.00001
|
|
NM_001042492.3(NF1):c.8150C>T (p.Pro2717Leu)
|
rs778799019
|
0.00001
|
|
NM_001042492.3(NF1):c.8238T>G (p.Ile2746Met)
|
rs779789452
|
0.00001
|
|
NM_001042492.3(NF1):c.8378-4C>T
|
rs587782700
|
0.00001
|
|
NM_001042492.3(NF1):c.8446G>A (p.Gly2816Arg)
|
rs778233452
|
0.00001
|
|
NM_001042492.3(NF1):c.8515G>A (p.Val2839Met)
|
rs368149035
|
0.00001
|
|
NM_001042492.3(NF1):c.91C>T (p.His31Tyr)
|
rs786202864
|
0.00001
|
|
NM_001042517.2(DIAPH3):c.2608-3T>C
|
rs201176225
|
0.00001
|
|
NM_001042545.2(LTBP4):c.607T>C (p.Leu203=)
|
rs754839219
|
0.00001
|
|
NM_001042545.2(LTBP4):c.930C>T (p.Gly310=)
|
rs746743791
|
0.00001
|
|
NM_001042681.2(RERE):c.1372G>A (p.Val458Met)
|
rs1306272176
|
0.00001
|
|
NM_001042681.2(RERE):c.2461T>C (p.Ser821Pro)
|
rs897627996
|
0.00001
|
|
NM_001042681.2(RERE):c.2462C>T (p.Ser821Leu)
|
rs1057518295
|
0.00001
|
|
NM_001042681.2(RERE):c.725+3A>G
|
rs775442315
|
0.00001
|
|
NM_001042750.2(STAG2):c.3169A>G (p.Met1057Val)
|
rs1481946219
|
0.00001
|
|
NM_001044385.3(TMEM237):c.807G>A (p.Ala269=)
|
rs763452347
|
0.00001
|
|
NM_001048174.2(MUTYH):c.116-46A>G
|
rs748362676
|
0.00001
|
|
NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln)
|
rs755653922
|
0.00001
|
|
NM_001048174.2(MUTYH):c.305-7C>A
|
rs863224698
|
0.00001
|
|
NM_001048174.2(MUTYH):c.367G>A (p.Gly123Arg)
|
rs587782165
|
0.00001
|
|
NM_001048174.2(MUTYH):c.421-12T>G
|
rs890418965
|
0.00001
|
|
NM_001048174.2(MUTYH):c.492+3A>G
|
rs765792042
|
0.00001
|
|
NM_001048174.2(MUTYH):c.635C>T (p.Ala212Val)
|
rs369120013
|
0.00001
|
|
NM_001048174.2(MUTYH):c.802C>T (p.Leu268=)
|
rs778782508
|
0.00001
|
|
NM_001048174.2(MUTYH):c.835C>T (p.Arg279Trp)
|
rs759822330
|
0.00001
|
|
NM_001048174.2(MUTYH):c.842G>A (p.Arg281His)
|
rs587782727
|
0.00001
|
|
NM_001048174.2(MUTYH):c.852G>A (p.Val284=)
|
rs751875215
|
0.00001
|
|
NM_001048174.2(MUTYH):c.887C>T (p.Ser296Leu)
|
rs558173961
|
0.00001
|
|
NM_001065.4(TNFRSF1A):c.1058-8C>G
|
rs764636915
|
0.00001
|
|
NM_001065.4(TNFRSF1A):c.269C>T (p.Thr90Ile)
|
rs34751757
|
0.00001
|
|
NM_001065.4(TNFRSF1A):c.753G>A (p.Ser251=)
|
rs201358363
|
0.00001
|
|
NM_001077365.2(POMT1):c.1443C>T (p.His481=)
|
rs139415150
|
0.00001
|
|
NM_001077365.2(POMT1):c.345G>A (p.Ser115=)
|
rs147212285
|
0.00001
|
|
NM_001077653.2(TBX20):c.891-9C>G
|
rs761878149
|
0.00001
|
|
NM_001079802.2(FKTN):c.198C>G (p.Ser66=)
|
rs367868644
|
0.00001
|
|
NM_001079802.2(FKTN):c.21C>T (p.Asn7=)
|
rs564632018
|
0.00001
|
|
NM_001079802.2(FKTN):c.357A>G (p.Leu119=)
|
rs760933616
|
0.00001
|
|
NM_001079802.2(FKTN):c.588C>T (p.Asp196=)
|
rs1222153269
|
0.00001
|
|
NM_001079866.2(BCS1L):c.258T>C (p.His86=)
|
rs886055627
|
0.00001
|
|
NM_001079866.2(BCS1L):c.768C>G (p.Leu256=)
|
rs781666793
|
0.00001
|
|
NM_001080449.3(DNA2):c.27G>A (p.Leu9=)
|
rs1211027535
|
0.00001
|
|
NM_001080517.3(SETD5):c.1260T>G (p.Ala420=)
|
rs931898655
|
0.00001
|
|
NM_001080517.3(SETD5):c.2601G>T (p.Gln867His)
|
rs371224058
|
0.00001
|
|
NM_001080517.3(SETD5):c.2922C>T (p.Asp974=)
|
rs1049067352
|
0.00001
|
|
NM_001080517.3(SETD5):c.521A>G (p.Lys174Arg)
|
rs375122657
|
0.00001
|
|
NM_001081.4(CUBN):c.3932G>A (p.Arg1311Gln)
|
rs1037514591
|
0.00001
|
|
NM_001081.4(CUBN):c.4907G>T (p.Arg1636Leu)
|
rs538984401
|
0.00001
|
|
NM_001082971.2(DDC):c.564C>T (p.Ser188=)
|
rs371336321
|
0.00001
|
|
NM_001083614.2(EARS2):c.100G>A (p.Gly34Arg)
|
rs372762172
|
0.00001
|
|
NM_001083961.2(WDR62):c.1642+9G>A
|
rs112789274
|
0.00001
|
|
NM_001083961.2(WDR62):c.2040T>C (p.His680=)
|
rs765451882
|
0.00001
|
|
NM_001083961.2(WDR62):c.3463-9T>C
|
rs1346976662
|
0.00001
|
|
NM_001083961.2(WDR62):c.525C>T (p.Tyr175=)
|
rs779093591
|
0.00001
|
|
NM_001083962.2(TCF4):c.1106C>A (p.Ala369Asp)
|
rs1016959427
|
0.00001
|
|
NM_001083962.2(TCF4):c.584A>G (p.Asn195Ser)
|
rs148573556
|
0.00001
|
|
NM_001085049.3(MRAS):c.348-17G>A
|
rs574806189
|
0.00001
|
|
NM_001098.3(ACO2):c.1550C>T (p.Thr517Met)
|
rs540169523
|
0.00001
|
|
NM_001098.3(ACO2):c.1776T>C (p.Cys592=)
|
rs368044961
|
0.00001
|
|
NM_001098.3(ACO2):c.2136G>A (p.Pro712=)
|
rs565638362
|
0.00001
|
|
NM_001098511.3(KIF2A):c.1024G>A (p.Ala342Thr)
|
rs758143705
|
0.00001
|
|
NM_001099922.3(ALG13):c.1010T>A (p.Leu337Gln)
|
rs1189252877
|
0.00001
|
|
NM_001099922.3(ALG13):c.1954G>T (p.Gly652Cys)
|
rs1164687660
|
0.00001
|
|
NM_001099922.3(ALG13):c.2607G>A (p.Ala869=)
|
rs746842727
|
0.00001
|
|
NM_001100.4(ACTA1):c.246T>C (p.Asp82=)
|
rs373785144
|
0.00001
|
|
NM_001100.4(ACTA1):c.888T>C (p.Tyr296=)
|
rs770931836
|
0.00001
|
|
NM_001100913.3(PACS2):c.1150C>A (p.Pro384Thr)
|
rs782701010
|
0.00001
|
|
NM_001100913.3(PACS2):c.1781-7C>T
|
rs1555412976
|
0.00001
|
|
NM_001100913.3(PACS2):c.2630A>G (p.Lys877Arg)
|
rs782685668
|
0.00001
|
|
NM_001101.5(ACTB):c.804C>T (p.Gly268=)
|
rs770089307
|
0.00001
|
|
NM_001101362.3(KBTBD13):c.252C>T (p.Cys84=)
|
rs886051334
|
0.00001
|
|
NM_001101426.4(CRPPA):c.645A>G (p.Gln215=)
|
rs532057629
|
0.00001
|
|
NM_001101426.4(CRPPA):c.840A>G (p.Arg280=)
|
rs148054819
|
0.00001
|
|
NM_001101426.4(CRPPA):c.933+3A>G
|
rs377582530
|
0.00001
|
|
NM_001103.4(ACTN2):c.616-3C>T
|
rs111464645
|
0.00001
|
|
NM_001104631.2(PDE4D):c.622C>T (p.Arg208Trp)
|
rs775608955
|
0.00001
|
|
NM_001105206.3(LAMA4):c.2146G>A (p.Val716Ile)
|
rs141742906
|
0.00001
|
|
NM_001105206.3(LAMA4):c.3311A>G (p.Asn1104Ser)
|
rs542157463
|
0.00001
|
|
NM_001105206.3(LAMA4):c.343G>A (p.Asp115Asn)
|
rs781919095
|
0.00001
|
|
NM_001110556.2(FLNA):c.1270A>G (p.Met424Val)
|
rs782066542
|
0.00001
|
|
NM_001110556.2(FLNA):c.1349T>C (p.Met450Thr)
|
rs1360400826
|
0.00001
|
|
NM_001110556.2(FLNA):c.1439C>T (p.Pro480Leu)
|
rs782168634
|
0.00001
|
|
NM_001110556.2(FLNA):c.2472C>T (p.Phe824=)
|
rs782669943
|
0.00001
|
|
NM_001110556.2(FLNA):c.2521C>T (p.Arg841Trp)
|
rs782772998
|
0.00001
|
|
NM_001110556.2(FLNA):c.2590G>T (p.Val864Phe)
|
rs1557178198
|
0.00001
|
|
NM_001110556.2(FLNA):c.3147C>T (p.Gly1049=)
|
rs398123615
|
0.00001
|
|
NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr)
|
rs371677498
|
0.00001
|
|
NM_001110556.2(FLNA):c.3886C>T (p.Arg1296Cys)
|
rs781816229
|
0.00001
|
|
NM_001110556.2(FLNA):c.5116G>A (p.Gly1706Ser)
|
rs781993685
|
0.00001
|
|
NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln)
|
rs782447567
|
0.00001
|
|
NM_001110556.2(FLNA):c.5786C>T (p.Pro1929Leu)
|
rs782359458
|
0.00001
|
|
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg)
|
rs797045581
|
0.00001
|
|
NM_001110556.2(FLNA):c.7013C>G (p.Ser2338Cys)
|
rs781878646
|
0.00001
|
|
NM_001110556.2(FLNA):c.7453G>A (p.Val2485Ile)
|
rs782190081
|
0.00001
|
|
NM_001110556.2(FLNA):c.7585G>A (p.Glu2529Lys)
|
rs1557175308
|
0.00001
|
|
NM_001110792.2(MECP2):c.1183C>T (p.Leu395Phe)
|
rs1340029095
|
0.00001
|
|
NM_001110792.2(MECP2):c.1440G>A (p.Arg480=)
|
rs267608633
|
0.00001
|
|
NM_001110792.2(MECP2):c.474C>T (p.Gly158=)
|
rs61748386
|
0.00001
|
|
NM_001110792.2(MECP2):c.515C>G (p.Thr172Ser)
|
rs61748414
|
0.00001
|
|
NM_001110792.2(MECP2):c.554C>G (p.Pro185Arg)
|
rs267608492
|
0.00001
|
|
NM_001110792.2(MECP2):c.723G>T (p.Ser241=)
|
rs782461567
|
0.00001
|
|
NM_001110792.2(MECP2):c.860T>C (p.Val287Ala)
|
rs143989769
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.3397G>A (p.Asp1133Asn)
|
rs1556859667
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.3523C>T (p.Arg1175Cys)
|
rs1300877733
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.419C>T (p.Pro140Leu)
|
rs1372592100
|
0.00001
|
|
NM_001113378.2(FANCI):c.1017G>A (p.Lys339=)
|
rs72762644
|
0.00001
|
|
NM_001113378.2(FANCI):c.1311A>G (p.Arg437=)
|
rs772846275
|
0.00001
|
|
NM_001113378.2(FANCI):c.2292-6T>C
|
rs772352819
|
0.00001
|
|
NM_001113378.2(FANCI):c.3721-7C>T
|
rs1434575390
|
0.00001
|
|
NM_001113491.2(SEPTIN9):c.216A>G (p.Glu72=)
|
rs760234906
|
0.00001
|
|
NM_001113491.2(SEPTIN9):c.641C>T (p.Ala214Val)
|
rs200850474
|
0.00001
|
|
NM_001113525.2(ZNF276):c.*1220G>A
|
rs1445940471
|
0.00001
|
|
NM_001114134.2(EPB42):c.552C>T (p.Phe184=)
|
rs768899304
|
0.00001
|
|
NM_001114753.3(ENG):c.111C>T (p.Pro37=)
|
rs755626994
|
0.00001
|
|
NM_001114753.3(ENG):c.1273-5C>T
|
rs779103881
|
0.00001
|
|
NM_001114753.3(ENG):c.633C>T (p.Gly211=)
|
rs928192105
|
0.00001
|
|
NM_001122659.3(EDNRB):c.1194+15C>T
|
rs886050325
|
0.00001
|
|
NM_001122659.3(EDNRB):c.483+15C>T
|
rs936183003
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.1545C>T (p.Ile515=)
|
rs764801122
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.2244G>A (p.Ser748=)
|
rs150633177
|
0.00001
|
|
NM_001126121.2(SLC25A19):c.590G>T (p.Ser197Ile)
|
rs769399113
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.130G>A (p.Ala44Thr)
|
rs201398669
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1427G>A (p.Arg476His)
|
rs755107633
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1782G>A (p.Lys594=)
|
rs756972061
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser)
|
rs760816963
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2992G>A (p.Gly998Arg)
|
rs781006387
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3167G>A (p.Arg1056His)
|
rs200850308
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5316G>A (p.Lys1772=)
|
rs886043622
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5839+10G>A
|
rs371733571
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6015C>T (p.Ala2005=)
|
rs369675855
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6372A>G (p.Ser2124=)
|
rs760994682
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6431C>T (p.Pro2144Leu)
|
rs750077868
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6769G>A (p.Ala2257Thr)
|
rs1057523197
|
0.00001
|
|
NM_001127511.3(APC):c.122C>T (p.Pro41Leu)
|
rs1057517584
|
0.00001
|
|
NM_001127644.2(GABRA1):c.1045G>A (p.Val349Met)
|
rs1755340949
|
0.00001
|
|
NM_001127671.2(LIFR):c.3060G>A (p.Glu1020=)
|
rs537706381
|
0.00001
|
|
NM_001127671.2(LIFR):c.819T>C (p.Ser273=)
|
rs756161883
|
0.00001
|
|
NM_001128178.3(NPHP1):c.102A>G (p.Lys34=)
|
rs763004817
|
0.00001
|
|
NM_001128840.3(CACNA1D):c.2562G>A (p.Lys854=)
|
rs1332817040
|
0.00001
|
|
NM_001128840.3(CACNA1D):c.5813C>T (p.Pro1938Leu)
|
rs770886605
|
0.00001
|
|
NM_001128840.3(CACNA1D):c.6395A>G (p.Asp2132Gly)
|
rs779549091
|
0.00001
|
|
NM_001130009.3(GEN1):c.364G>A (p.Glu122Lys)
|
rs201084834
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.1389C>T (p.Tyr463=)
|
rs587784431
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.2599G>A (p.Glu867Lys)
|
rs1339046005
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3060C>T (p.Tyr1020=)
|
rs530361602
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3579+3_3579+4dup
|
rs797046004
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.3720-7C>T
|
rs773023641
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.5245G>A (p.Gly1749Arg)
|
rs771886198
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.5880C>T (p.Asn1960=)
|
rs372782253
|
0.00001
|
|
NM_001130438.3(SPTAN1):c.615T>A (p.Val205=)
|
rs763385120
|
0.00001
|
|
NM_001130823.3(DNMT1):c.2260G>A (p.Val754Ile)
|
rs762172122
|
0.00001
|
|
NM_001130823.3(DNMT1):c.3036C>G (p.Ile1012Met)
|
rs376854079
|
0.00001
|
|
NM_001130823.3(DNMT1):c.3117-8G>A
|
rs769623856
|
0.00001
|
|
NM_001130823.3(DNMT1):c.3537G>A (p.Thr1179=)
|
rs761140414
|
0.00001
|
|
NM_001130823.3(DNMT1):c.4164C>T (p.Ser1388=)
|
rs779701784
|
0.00001
|
|
NM_001130823.3(DNMT1):c.720A>G (p.Arg240=)
|
rs760733624
|
0.00001
|
|
NM_001130987.2(DYSF):c.1205G>A (p.Arg402Gln)
|
rs375071568
|
0.00001
|
|
NM_001130987.2(DYSF):c.1276+13C>T
|
rs373530549
|
0.00001
|
|
NM_001130987.2(DYSF):c.1493+13T>C
|
rs886056279
|
0.00001
|
|
NM_001130987.2(DYSF):c.1577-10T>C
|
rs371967475
|
0.00001
|
|
NM_001130987.2(DYSF):c.1577-1639G>C
|
rs767550929
|
0.00001
|
|
NM_001130987.2(DYSF):c.1807-13T>C
|
rs756387775
|
0.00001
|
|
NM_001130987.2(DYSF):c.1905C>T (p.Ile635=)
|
rs567956595
|
0.00001
|
|
NM_001130987.2(DYSF):c.1926C>T (p.Phe642=)
|
rs550180529
|
0.00001
|
|
NM_001130987.2(DYSF):c.2400G>A (p.Leu800=)
|
rs757613811
|
0.00001
|
|
NM_001130987.2(DYSF):c.3161C>T (p.Thr1054Ile)
|
rs770883682
|
0.00001
|
|
NM_001130987.2(DYSF):c.3477G>A (p.Thr1159=)
|
rs576460368
|
0.00001
|
|
NM_001130987.2(DYSF):c.4149G>A (p.Thr1383=)
|
rs566381009
|
0.00001
|
|
NM_001130987.2(DYSF):c.4188C>T (p.Pro1396=)
|
rs774464702
|
0.00001
|
|
NM_001130987.2(DYSF):c.4261G>A (p.Val1421Ile)
|
rs767049254
|
0.00001
|
|
NM_001130987.2(DYSF):c.4341G>A (p.Leu1447=)
|
rs144072850
|
0.00001
|
|
NM_001130987.2(DYSF):c.4356G>A (p.Ser1452=)
|
rs368451006
|
0.00001
|
|
NM_001130987.2(DYSF):c.5427C>G (p.Leu1809=)
|
rs763198861
|
0.00001
|
|
NM_001130987.2(DYSF):c.554-8C>T
|
rs1257627361
|
0.00001
|
|
NM_001130987.2(DYSF):c.5614G>A (p.Glu1872Lys)
|
rs201592500
|
0.00001
|
|
NM_001130987.2(DYSF):c.5625C>T (p.Ser1875=)
|
rs577921112
|
0.00001
|
|
NM_001130987.2(DYSF):c.606G>A (p.Ala202=)
|
rs398123791
|
0.00001
|
|
NM_001130987.2(DYSF):c.6174-8G>A
|
rs777167646
|
0.00001
|
|
NM_001134363.3(RBM20):c.1013T>C (p.Met338Thr)
|
rs876657970
|
0.00001
|
|
NM_001134363.3(RBM20):c.1059G>A (p.Glu353=)
|
rs749130573
|
0.00001
|
|
NM_001134363.3(RBM20):c.1100G>A (p.Arg367Gln)
|
rs878854247
|
0.00001
|
|
NM_001134363.3(RBM20):c.1139G>A (p.Arg380Gln)
|
rs777080028
|
0.00001
|
|
NM_001134363.3(RBM20):c.116G>A (p.Arg39Gln)
|
rs780367353
|
0.00001
|
|
NM_001134363.3(RBM20):c.1259A>G (p.Lys420Arg)
|
rs727505308
|
0.00001
|
|
NM_001134363.3(RBM20):c.1338-4C>G
|
rs753677364
|
0.00001
|
|
NM_001134363.3(RBM20):c.1494C>A (p.Ser498Arg)
|
rs774916799
|
0.00001
|
|
NM_001134363.3(RBM20):c.1868G>A (p.Arg623Gln)
|
rs1366402693
|
0.00001
|
|
NM_001134363.3(RBM20):c.1921C>T (p.Arg641Trp)
|
rs772991270
|
0.00001
|
|
NM_001134363.3(RBM20):c.2060A>G (p.Glu687Gly)
|
rs1051836531
|
0.00001
|
|
NM_001134363.3(RBM20):c.2069C>T (p.Pro690Leu)
|
rs550942448
|
0.00001
|
|
NM_001134363.3(RBM20):c.2174A>C (p.Glu725Ala)
|
rs967504449
|
0.00001
|
|
NM_001134363.3(RBM20):c.2272G>A (p.Gly758Ser)
|
rs1371567866
|
0.00001
|
|
NM_001134363.3(RBM20):c.2276A>G (p.Tyr759Cys)
|
rs1463526980
|
0.00001
|
|
NM_001134363.3(RBM20):c.2410G>A (p.Glu804Lys)
|
rs957248353
|
0.00001
|
|
NM_001134363.3(RBM20):c.2464C>A (p.Gln822Lys)
|
rs377259044
|
0.00001
|
|
NM_001134363.3(RBM20):c.321G>C (p.Gln107His)
|
rs1413181007
|
0.00001
|
|
NM_001134363.3(RBM20):c.3301G>A (p.Glu1101Lys)
|
rs959605686
|
0.00001
|
|
NM_001134363.3(RBM20):c.3317-10T>C
|
rs772243422
|
0.00001
|
|
NM_001134363.3(RBM20):c.3609G>A (p.Lys1203=)
|
rs892459274
|
0.00001
|
|
NM_001134363.3(RBM20):c.3662G>A (p.Arg1221His)
|
rs1421547378
|
0.00001
|
|
NM_001134363.3(RBM20):c.674C>T (p.Thr225Ile)
|
rs794729140
|
0.00001
|
|
NM_001134363.3(RBM20):c.717A>T (p.Thr239=)
|
rs886046700
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.1030G>C (p.Asp344His)
|
rs777505684
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.1069G>A (p.Val357Met)
|
rs78929970
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.1343A>G (p.Glu448Gly)
|
rs1273711716
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.3017C>T (p.Ala1006Val)
|
rs200526162
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.3636G>A (p.Thr1212=)
|
rs765614514
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.3809A>T (p.Asp1270Val)
|
rs750649530
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.678C>T (p.Val226=)
|
rs1567187672
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.687C>T (p.Leu229=)
|
rs372649219
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.77C>T (p.Ala26Val)
|
rs765986049
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.843C>T (p.Tyr281=)
|
rs554338361
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.943G>A (p.Glu315Lys)
|
rs765104792
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.964G>A (p.Gly322Arg)
|
rs374637415
|
0.00001
|
|
NM_001134407.3(GRIN2A):c.979C>G (p.Pro327Ala)
|
rs771168389
|
0.00001
|
|
NM_001135998.3(NDUFB11):c.415T>G (p.Ser139Ala)
|
rs199837826
|
0.00001
|
|
NM_001142800.2(EYS):c.2511C>T (p.Cys837=)
|
rs999155902
|
0.00001
|
|
NM_001142800.2(EYS):c.3081C>T (p.Thr1027=)
|
rs1554207086
|
0.00001
|
|
NM_001142800.2(EYS):c.3420G>A (p.Gly1140=)
|
rs1325335839
|
0.00001
|
|
NM_001142800.2(EYS):c.5262G>A (p.Pro1754=)
|
rs779784002
|
0.00001
|
|
NM_001142800.2(EYS):c.5329T>C (p.Leu1777=)
|
rs1042931370
|
0.00001
|
|
NM_001142800.2(EYS):c.5487A>G (p.Lys1829=)
|
rs373872866
|
0.00001
|
|
NM_001142800.2(EYS):c.6025A>G (p.Lys2009Glu)
|
rs559078881
|
0.00001
|
|
NM_001142800.2(EYS):c.7122T>C (p.Ser2374=)
|
rs890076073
|
0.00001
|
|
NM_001142800.2(EYS):c.7170C>T (p.Ser2390=)
|
rs201364943
|
0.00001
|
|
NM_001142800.2(EYS):c.7803T>C (p.Asn2601=)
|
rs1342639553
|
0.00001
|
|
NM_001142800.2(EYS):c.8337C>T (p.Asn2779=)
|
rs745351348
|
0.00001
|
|
NM_001142800.2(EYS):c.8634C>T (p.Ala2878=)
|
rs763174826
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.4981G>A (p.Glu1661Lys)
|
rs1406098820
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.5557G>A (p.Gly1853Arg)
|
rs367636785
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.645C>G (p.His215Gln)
|
rs559847737
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.7130-5C>A
|
rs1357808025
|
0.00001
|
|
NM_001143992.2(WRAP53):c.621G>A (p.Glu207=)
|
rs200805760
|
0.00001
|
|
NM_001145809.2(MYH14):c.3194G>A (p.Arg1065His)
|
rs769362736
|
0.00001
|
|
NM_001145809.2(MYH14):c.94C>T (p.Arg32Cys)
|
rs549293063
|
0.00001
|
|
NM_001146079.2(CLDN14):c.15C>T (p.Ala5=)
|
rs387907416
|
0.00001
|
|
NM_001146079.2(CLDN14):c.18G>A (p.Val6=)
|
rs387907417
|
0.00001
|
|
NM_001148.6(ANK2):c.10573G>A (p.Glu3525Lys)
|
rs781552524
|
0.00001
|
|
NM_001148.6(ANK2):c.1252G>A (p.Val418Met)
|
rs760073103
|
0.00001
|
|
NM_001148.6(ANK2):c.1783-4A>G
|
rs755543636
|
0.00001
|
|
NM_001148.6(ANK2):c.1986A>G (p.Gly662=)
|
rs765012746
|
0.00001
|
|
NM_001148.6(ANK2):c.4687A>C (p.Asn1563His)
|
rs1476737595
|
0.00001
|
|
NM_001148.6(ANK2):c.5327G>A (p.Arg1776Gln)
|
rs150207892
|
0.00001
|
|
NM_001148.6(ANK2):c.56G>A (p.Ser19Asn)
|
rs369260005
|
0.00001
|
|
NM_001148.6(ANK2):c.6875G>A (p.Arg2292Gln)
|
rs1350377647
|
0.00001
|
|
NM_001148.6(ANK2):c.7249G>C (p.Asp2417His)
|
rs372545180
|
0.00001
|
|
NM_001148.6(ANK2):c.7532G>A (p.Arg2511Gln)
|
rs142684331
|
0.00001
|
|
NM_001148.6(ANK2):c.7546A>G (p.Ser2516Gly)
|
rs771826064
|
0.00001
|
|
NM_001148.6(ANK2):c.7951G>C (p.Val2651Leu)
|
rs777477439
|
0.00001
|
|
NM_001148.6(ANK2):c.8057T>C (p.Val2686Ala)
|
rs56095304
|
0.00001
|
|
NM_001148.6(ANK2):c.8447G>A (p.Gly2816Asp)
|
rs199538455
|
0.00001
|
|
NM_001159699.2(FHL1):c.88T>C (p.Leu30=)
|
rs1313810606
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.1560C>T (p.Pro520=)
|
rs886062724
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.3148C>T (p.Arg1050Trp)
|
rs563050274
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.1209G>A (p.Ala403=)
|
rs199572145
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.1860-4G>T
|
rs763267420
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.2511C>T (p.Val837=)
|
rs200166976
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.3333G>A (p.Ala1111=)
|
rs200045097
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.3588G>A (p.Ser1196=)
|
rs75138661
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.3654G>A (p.Arg1218=)
|
rs1445232499
|
0.00001
|
|
NM_001161352.2(KCNMA1):c.602+12A>G
|
rs199818612
|
0.00001
|
|
NM_001163435.3(TBCK):c.659-19T>C
|
rs1212469599
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1125-6T>C
|
rs782323567
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.21C>G (p.Gly7=)
|
rs370153031
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.264C>T (p.Gly88=)
|
rs782292086
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.781G>A (p.Val261Ile)
|
rs561701030
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.786-7A>G
|
rs781887799
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.872-11T>C
|
rs1265857875
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.872-6C>G
|
rs781985446
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.986-15C>T
|
rs782640506
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.986-8C>T
|
rs782425309
|
0.00001
|
|
NM_001164507.2(NEB):c.21327T>G (p.Ala7109=)
|
rs777930884
|
0.00001
|
|
NM_001164508.2(NEB):c.10922C>T (p.Pro3641Leu)
|
rs377027708
|
0.00001
|
|
NM_001164508.2(NEB):c.10940T>C (p.Val3647Ala)
|
rs1316575607
|
0.00001
|
|
NM_001164508.2(NEB):c.11165G>A (p.Arg3722Gln)
|
rs757027644
|
0.00001
|
|
NM_001164508.2(NEB):c.11798T>C (p.Met3933Thr)
|
rs772235127
|
0.00001
|
|
NM_001164508.2(NEB):c.11843C>T (p.Ser3948Phe)
|
rs757175445
|
0.00001
|
|
NM_001164508.2(NEB):c.11954A>G (p.Tyr3985Cys)
|
rs745504838
|
0.00001
|
|
NM_001164508.2(NEB):c.11974A>G (p.Ile3992Val)
|
rs1465332264
|
0.00001
|
|
NM_001164508.2(NEB):c.11982C>G (p.Ile3994Met)
|
rs780157705
|
0.00001
|
|
NM_001164508.2(NEB):c.12234T>A (p.Thr4078=)
|
rs752937326
|
0.00001
|
|
NM_001164508.2(NEB):c.1227C>T (p.Leu409=)
|
rs371658494
|
0.00001
|
|
NM_001164508.2(NEB):c.1258A>G (p.Lys420Glu)
|
rs200298261
|
0.00001
|
|
NM_001164508.2(NEB):c.12640-10C>T
|
rs1264692800
|
0.00001
|
|
NM_001164508.2(NEB):c.1423A>G (p.Ile475Val)
|
rs772070576
|
0.00001
|
|
NM_001164508.2(NEB):c.1528G>T (p.Val510Phe)
|
rs749473348
|
0.00001
|
|
NM_001164508.2(NEB):c.1621C>G (p.Pro541Ala)
|
rs1324280943
|
0.00001
|
|
NM_001164508.2(NEB):c.16750A>G (p.Met5584Val)
|
rs761807814
|
0.00001
|
|
NM_001164508.2(NEB):c.1698G>A (p.Glu566=)
|
rs1242070276
|
0.00001
|
|
NM_001164508.2(NEB):c.17243G>A (p.Arg5748Gln)
|
rs773983252
|
0.00001
|
|
NM_001164508.2(NEB):c.17573C>T (p.Thr5858Met)
|
rs747699601
|
0.00001
|
|
NM_001164508.2(NEB):c.17644C>T (p.Arg5882Trp)
|
rs769673154
|
0.00001
|
|
NM_001164508.2(NEB):c.17645G>A (p.Arg5882Gln)
|
rs558345996
|
0.00001
|
|
NM_001164508.2(NEB):c.17913T>A (p.Asp5971Glu)
|
rs1167894918
|
0.00001
|
|
NM_001164508.2(NEB):c.18083T>C (p.Leu6028Ser)
|
rs1221212842
|
0.00001
|
|
NM_001164508.2(NEB):c.18144C>T (p.Asp6048=)
|
rs1319860549
|
0.00001
|
|
NM_001164508.2(NEB):c.18375T>C (p.Tyr6125=)
|
rs1300207920
|
0.00001
|
|
NM_001164508.2(NEB):c.185C>T (p.Ser62Leu)
|
rs764417105
|
0.00001
|
|
NM_001164508.2(NEB):c.18613G>A (p.Gly6205Ser)
|
rs1292580496
|
0.00001
|
|
NM_001164508.2(NEB):c.18763G>A (p.Val6255Met)
|
rs781706876
|
0.00001
|
|
NM_001164508.2(NEB):c.18904G>A (p.Asp6302Asn)
|
rs766403303
|
0.00001
|
|
NM_001164508.2(NEB):c.19242C>T (p.Ala6414=)
|
rs773178453
|
0.00001
|
|
NM_001164508.2(NEB):c.19426G>A (p.Asp6476Asn)
|
rs752626000
|
0.00001
|
|
NM_001164508.2(NEB):c.1957C>T (p.Pro653Ser)
|
rs759215923
|
0.00001
|
|
NM_001164508.2(NEB):c.19597G>A (p.Val6533Ile)
|
rs368484176
|
0.00001
|
|
NM_001164508.2(NEB):c.19613A>T (p.Asp6538Val)
|
rs747034126
|
0.00001
|
|
NM_001164508.2(NEB):c.19894A>G (p.Lys6632Glu)
|
rs765189771
|
0.00001
|
|
NM_001164508.2(NEB):c.19903G>A (p.Asp6635Asn)
|
rs534519331
|
0.00001
|
|
NM_001164508.2(NEB):c.20033G>A (p.Arg6678His)
|
rs1487589344
|
0.00001
|
|
NM_001164508.2(NEB):c.20155G>A (p.Glu6719Lys)
|
rs767886794
|
0.00001
|
|
NM_001164508.2(NEB):c.20218C>A (p.Pro6740Thr)
|
rs199722285
|
0.00001
|
|
NM_001164508.2(NEB):c.20290A>G (p.Met6764Val)
|
rs372042301
|
0.00001
|
|
NM_001164508.2(NEB):c.20332A>G (p.Ile6778Val)
|
rs753409626
|
0.00001
|
|
NM_001164508.2(NEB):c.203G>A (p.Arg68Lys)
|
rs1014627144
|
0.00001
|
|
NM_001164508.2(NEB):c.20777T>C (p.Met6926Thr)
|
rs763737123
|
0.00001
|
|
NM_001164508.2(NEB):c.20846C>T (p.Thr6949Met)
|
rs767461697
|
0.00001
|
|
NM_001164508.2(NEB):c.20897G>A (p.Arg6966His)
|
rs767230683
|
0.00001
|
|
NM_001164508.2(NEB):c.20977G>A (p.Val6993Ile)
|
rs779881258
|
0.00001
|
|
NM_001164508.2(NEB):c.2099A>G (p.Asn700Ser)
|
rs770240346
|
0.00001
|
|
NM_001164508.2(NEB):c.21042G>A (p.Arg7014=)
|
rs778067687
|
0.00001
|
|
NM_001164508.2(NEB):c.21051T>C (p.Pro7017=)
|
rs767655200
|
0.00001
|
|
NM_001164508.2(NEB):c.2162C>T (p.Thr721Ile)
|
rs749168085
|
0.00001
|
|
NM_001164508.2(NEB):c.21706G>C (p.Ala7236Pro)
|
rs777945797
|
0.00001
|
|
NM_001164508.2(NEB):c.21761C>A (p.Ala7254Asp)
|
rs778063345
|
0.00001
|
|
NM_001164508.2(NEB):c.21841-6T>A
|
rs767466501
|
0.00001
|
|
NM_001164508.2(NEB):c.21970A>C (p.Lys7324Gln)
|
rs756646859
|
0.00001
|
|
NM_001164508.2(NEB):c.2200C>G (p.Gln734Glu)
|
rs780299519
|
0.00001
|
|
NM_001164508.2(NEB):c.22022C>T (p.Ala7341Val)
|
rs550296441
|
0.00001
|
|
NM_001164508.2(NEB):c.22272+7T>C
|
rs762551492
|
0.00001
|
|
NM_001164508.2(NEB):c.22396C>T (p.Arg7466Cys)
|
rs768826001
|
0.00001
|
|
NM_001164508.2(NEB):c.22504A>G (p.Lys7502Glu)
|
rs376495046
|
0.00001
|
|
NM_001164508.2(NEB):c.22663C>T (p.His7555Tyr)
|
rs746454129
|
0.00001
|
|
NM_001164508.2(NEB):c.22750G>A (p.Asp7584Asn)
|
rs758761216
|
0.00001
|
|
NM_001164508.2(NEB):c.22801-7T>C
|
rs368298970
|
0.00001
|
|
NM_001164508.2(NEB):c.22906-6C>T
|
rs1449487575
|
0.00001
|
|
NM_001164508.2(NEB):c.22986T>C (p.His7662=)
|
rs149606244
|
0.00001
|
|
NM_001164508.2(NEB):c.23054G>A (p.Gly7685Glu)
|
rs768880396
|
0.00001
|
|
NM_001164508.2(NEB):c.23893G>C (p.Glu7965Gln)
|
rs767969927
|
0.00001
|
|
NM_001164508.2(NEB):c.23986G>A (p.Glu7996Lys)
|
rs1202510810
|
0.00001
|
|
NM_001164508.2(NEB):c.24021+8G>A
|
rs1361035933
|
0.00001
|
|
NM_001164508.2(NEB):c.24207G>A (p.Ser8069=)
|
rs763193315
|
0.00001
|
|
NM_001164508.2(NEB):c.24493T>C (p.Tyr8165His)
|
rs775139388
|
0.00001
|
|
NM_001164508.2(NEB):c.24509G>A (p.Gly8170Glu)
|
rs398124169
|
0.00001
|
|
NM_001164508.2(NEB):c.24743G>A (p.Arg8248His)
|
rs781388562
|
0.00001
|
|
NM_001164508.2(NEB):c.24873+7C>T
|
rs372378614
|
0.00001
|
|
NM_001164508.2(NEB):c.25089G>A (p.Ser8363=)
|
rs766453942
|
0.00001
|
|
NM_001164508.2(NEB):c.25107A>G (p.Pro8369=)
|
rs763433145
|
0.00001
|
|
NM_001164508.2(NEB):c.25219G>A (p.Glu8407Lys)
|
rs766943894
|
0.00001
|
|
NM_001164508.2(NEB):c.25259C>T (p.Ser8420Leu)
|
rs949111967
|
0.00001
|
|
NM_001164508.2(NEB):c.2755C>G (p.His919Asp)
|
rs373168257
|
0.00001
|
|
NM_001164508.2(NEB):c.2892T>C (p.Phe964=)
|
rs762595663
|
0.00001
|
|
NM_001164508.2(NEB):c.2954G>A (p.Arg985His)
|
rs769987120
|
0.00001
|
|
NM_001164508.2(NEB):c.2968A>G (p.Thr990Ala)
|
rs1043417027
|
0.00001
|
|
NM_001164508.2(NEB):c.2998C>T (p.Pro1000Ser)
|
rs763910385
|
0.00001
|
|
NM_001164508.2(NEB):c.3165C>T (p.Asp1055=)
|
rs1448712345
|
0.00001
|
|
NM_001164508.2(NEB):c.3224C>A (p.Ala1075Asp)
|
rs574309369
|
0.00001
|
|
NM_001164508.2(NEB):c.3349G>A (p.Val1117Met)
|
rs1404806019
|
0.00001
|
|
NM_001164508.2(NEB):c.3439G>A (p.Val1147Met)
|
rs757659868
|
0.00001
|
|
NM_001164508.2(NEB):c.3547A>G (p.Met1183Val)
|
rs371816204
|
0.00001
|
|
NM_001164508.2(NEB):c.3568-10A>G
|
rs774345653
|
0.00001
|
|
NM_001164508.2(NEB):c.3721G>T (p.Val1241Leu)
|
rs537769519
|
0.00001
|
|
NM_001164508.2(NEB):c.3758C>T (p.Thr1253Met)
|
rs767433330
|
0.00001
|
|
NM_001164508.2(NEB):c.4003G>A (p.Ala1335Thr)
|
rs1219059740
|
0.00001
|
|
NM_001164508.2(NEB):c.413G>A (p.Arg138Gln)
|
rs747423578
|
0.00001
|
|
NM_001164508.2(NEB):c.4151C>G (p.Pro1384Arg)
|
rs762809955
|
0.00001
|
|
NM_001164508.2(NEB):c.4413G>A (p.Lys1471=)
|
rs755877926
|
0.00001
|
|
NM_001164508.2(NEB):c.4789C>T (p.Pro1597Ser)
|
rs772492791
|
0.00001
|
|
NM_001164508.2(NEB):c.5091G>C (p.Glu1697Asp)
|
rs1349969572
|
0.00001
|
|
NM_001164508.2(NEB):c.5326C>A (p.Gln1776Lys)
|
rs1306269352
|
0.00001
|
|
NM_001164508.2(NEB):c.5374A>G (p.Lys1792Glu)
|
rs541641039
|
0.00001
|
|
NM_001164508.2(NEB):c.5566C>T (p.Arg1856Trp)
|
rs755791156
|
0.00001
|
|
NM_001164508.2(NEB):c.5571A>G (p.Glu1857=)
|
rs201539560
|
0.00001
|
|
NM_001164508.2(NEB):c.5801G>A (p.Gly1934Asp)
|
rs763717355
|
0.00001
|
|
NM_001164508.2(NEB):c.5853C>A (p.Ala1951=)
|
rs757546480
|
0.00001
|
|
NM_001164508.2(NEB):c.6020T>C (p.Met2007Thr)
|
rs199862790
|
0.00001
|
|
NM_001164508.2(NEB):c.6235C>T (p.Arg2079Cys)
|
rs753064438
|
0.00001
|
|
NM_001164508.2(NEB):c.6262G>A (p.Val2088Ile)
|
rs747729019
|
0.00001
|
|
NM_001164508.2(NEB):c.6298C>T (p.Arg2100Trp)
|
rs756398214
|
0.00001
|
|
NM_001164508.2(NEB):c.6479A>G (p.Asn2160Ser)
|
rs774148469
|
0.00001
|
|
NM_001164508.2(NEB):c.6505A>G (p.Lys2169Glu)
|
rs752328965
|
0.00001
|
|
NM_001164508.2(NEB):c.6815A>G (p.Tyr2272Cys)
|
rs762107662
|
0.00001
|
|
NM_001164508.2(NEB):c.6868G>A (p.Ala2290Thr)
|
rs777601721
|
0.00001
|
|
NM_001164508.2(NEB):c.6869C>T (p.Ala2290Val)
|
rs756114192
|
0.00001
|
|
NM_001164508.2(NEB):c.718-6C>T
|
rs371791129
|
0.00001
|
|
NM_001164508.2(NEB):c.7209T>A (p.Val2403=)
|
rs778083630
|
0.00001
|
|
NM_001164508.2(NEB):c.7228-5C>T
|
rs773213959
|
0.00001
|
|
NM_001164508.2(NEB):c.7374C>T (p.Ser2458=)
|
rs1318587515
|
0.00001
|
|
NM_001164508.2(NEB):c.739G>A (p.Ala247Thr)
|
rs571451076
|
0.00001
|
|
NM_001164508.2(NEB):c.7610A>C (p.Lys2537Thr)
|
rs375216853
|
0.00001
|
|
NM_001164508.2(NEB):c.761C>T (p.Thr254Met)
|
rs376835458
|
0.00001
|
|
NM_001164508.2(NEB):c.7628G>A (p.Arg2543Gln)
|
rs758589097
|
0.00001
|
|
NM_001164508.2(NEB):c.8257T>C (p.Tyr2753His)
|
rs548343514
|
0.00001
|
|
NM_001164508.2(NEB):c.877C>T (p.Pro293Ser)
|
rs200672688
|
0.00001
|
|
NM_001164508.2(NEB):c.8949A>C (p.Thr2983=)
|
rs774786443
|
0.00001
|
|
NM_001164508.2(NEB):c.9465C>G (p.Pro3155=)
|
rs1021985219
|
0.00001
|
|
NM_001164508.2(NEB):c.9540G>A (p.Pro3180=)
|
rs373833313
|
0.00001
|
|
NM_001164508.2(NEB):c.9796G>A (p.Val3266Met)
|
rs564504601
|
0.00001
|
|
NM_001165963.4(SCN1A):c.1910C>T (p.Ala637Val)
|
rs1266240114
|
0.00001
|
|
NM_001165963.4(SCN1A):c.2520G>T (p.Val840=)
|
rs757851017
|
0.00001
|
|
NM_001165963.4(SCN1A):c.3120G>T (p.Arg1040Ser)
|
rs1373733895
|
0.00001
|
|
NM_001165963.4(SCN1A):c.3176A>T (p.Asp1059Val)
|
rs779306054
|
0.00001
|
|
NM_001165963.4(SCN1A):c.4524T>C (p.Tyr1508=)
|
rs778620898
|
0.00001
|
|
NM_001165963.4(SCN1A):c.5532A>G (p.Pro1844=)
|
rs886043063
|
0.00001
|
|
NM_001165963.4(SCN1A):c.5963G>A (p.Arg1988Gln)
|
rs769477807
|
0.00001
|
|
NM_001165963.4(SCN1A):c.5977A>G (p.Ile1993Val)
|
rs751750112
|
0.00001
|
|
NM_001165963.4(SCN1A):c.90A>G (p.Ala30=)
|
rs750748658
|
0.00001
|
|
NM_001165967.2(HES7):c.43-7G>A
|
rs987042061
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.1212T>C (p.Pro404=)
|
rs748049105
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.131C>T (p.Pro44Leu)
|
rs372169542
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2277G>A (p.Val759=)
|
rs1030480370
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2402-11C>A
|
rs756209420
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.2958A>G (p.Val986=)
|
rs752794292
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.3339G>A (p.Leu1113=)
|
rs770303471
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.621G>A (p.Leu207=)
|
rs200521839
|
0.00001
|
|
NM_001166114.2(PNPLA6):c.684C>T (p.Asp228=)
|
rs375424103
|
0.00001
|
|
NM_001170629.2(CHD8):c.1315C>T (p.His439Tyr)
|
rs565918098
|
0.00001
|
|
NM_001170629.2(CHD8):c.5390+6A>G
|
rs778452195
|
0.00001
|
|
NM_001171.6(ABCC6):c.1760C>G (p.Ser587Cys)
|
rs527236047
|
0.00001
|
|
NM_001171155.2(PET100):c.114+4G>A
|
rs963397184
|
0.00001
|
|
NM_001173467.3(SP7):c.63G>A (p.Thr21=)
|
rs542641721
|
0.00001
|
|
NM_001174089.2(SLC4A11):c.1206C>T (p.Gly402=)
|
rs1396963242
|
0.00001
|
|
NM_001174147.2(LMX1B):c.902G>A (p.Arg301His)
|
rs773510108
|
0.00001
|
|
NM_001177316.2(SLC34A3):c.945C>T (p.Gly315=)
|
rs915920618
|
0.00001
|
|
NM_001177701.3(IFT27):c.465A>G (p.Lys155=)
|
rs779134370
|
0.00001
|
|
NM_001177701.3(IFT27):c.481G>A (p.Glu161Lys)
|
rs753938507
|
0.00001
|
|
NM_001182.5(ALDH7A1):c.1008+11C>T
|
rs367574304
|
0.00001
|
|
NM_001182.5(ALDH7A1):c.1176T>C (p.Gly392=)
|
rs935431600
|
0.00001
|
|
NM_001182.5(ALDH7A1):c.1415+15A>G
|
rs370757950
|
0.00001
|
|
NM_001182.5(ALDH7A1):c.222C>T (p.Asn74=)
|
rs1007871645
|
0.00001
|
|
NM_001184.4(ATR):c.59+4G>A
|
rs758046042
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1434C>T (p.Arg478=)
|
rs137962077
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1477G>A (p.Val493Met)
|
rs773087045
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2496C>T (p.Phe832=)
|
rs774555485
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2742A>G (p.Gln914=)
|
rs61742914
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3057G>A (p.Gly1019=)
|
rs886043091
|
0.00001
|
|
NM_001184880.2(PCDH19):c.684G>A (p.Val228=)
|
rs201810406
|
0.00001
|
|
NM_001189.4(NKX3-2):c.873A>G (p.Arg291=)
|
rs921673580
|
0.00001
|
|
NM_001190274.2(FBXO11):c.146C>A (p.Pro49Gln)
|
rs1257345739
|
0.00001
|
|
NM_001191061.2(SLC25A22):c.379C>T (p.Leu127=)
|
rs746201051
|
0.00001
|
|
NM_001193315.2(VIPAS39):c.1266+5T>C
|
rs762123926
|
0.00001
|
|
NM_001193315.2(VIPAS39):c.1356+8C>T
|
rs988006454
|
0.00001
|
|
NM_001194998.2(CEP152):c.1008G>A (p.Leu336=)
|
rs1896842918
|
0.00001
|
|
NM_001195248.2(APTX):c.734G>A (p.Arg245His)
|
rs747334007
|
0.00001
|
|
NM_001195263.2(PDZD7):c.1722G>A (p.Val574=)
|
rs919717592
|
0.00001
|
|
NM_001195263.2(PDZD7):c.2299C>T (p.Arg767Trp)
|
rs562444438
|
0.00001
|
|
NM_001195305.3(BBIP1):c.150G>A (p.Leu50=)
|
rs767511014
|
0.00001
|
|
NM_001197104.2(KMT2A):c.10288T>G (p.Cys3430Gly)
|
rs373345566
|
0.00001
|
|
NM_001197104.2(KMT2A):c.4100C>T (p.Pro1367Leu)
|
rs550235275
|
0.00001
|
|
NM_001197104.2(KMT2A):c.5525C>T (p.Thr1842Ile)
|
rs144180211
|
0.00001
|
|
NM_001197104.2(KMT2A):c.6446G>A (p.Arg2149Gln)
|
rs782124549
|
0.00001
|
|
NM_001197104.2(KMT2A):c.9176C>T (p.Pro3059Leu)
|
rs782800112
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.*2G>A
|
rs780054979
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.1530A>G (p.Gly510=)
|
rs749232409
|
0.00001
|
|
NM_001199397.3(NEK1):c.3075C>T (p.Asn1025=)
|
rs886059227
|
0.00001
|
|
NM_001199397.3(NEK1):c.3405A>G (p.Gln1135=)
|
rs774338352
|
0.00001
|
|
NM_001199799.2(ILDR1):c.1560C>A (p.Gly520=)
|
rs369318229
|
0.00001
|
|
NM_001203.3(BMPR1B):c.896A>G (p.Lys299Arg)
|
rs773095683
|
0.00001
|
|
NM_001205293.3(CACNA1E):c.3719+6T>A
|
rs1656338337
|
0.00001
|
|
NM_001205293.3(CACNA1E):c.372G>A (p.Leu124=)
|
rs777684224
|
0.00001
|
|
NM_001205293.3(CACNA1E):c.4186C>T (p.Arg1396Cys)
|
rs770435124
|
0.00001
|
|
NM_001205293.3(CACNA1E):c.4606-3C>T
|
rs1037223207
|
0.00001
|
|
NM_001205293.3(CACNA1E):c.6346C>T (p.Arg2116Cys)
|
rs765523959
|
0.00001
|
|
NM_001206979.2(NR1H4):c.1353C>T (p.His451=)
|
rs574925287
|
0.00001
|
|
NM_001211.6(BUB1B):c.585A>G (p.Gln195=)
|
rs1595518738
|
0.00001
|
|
NM_001220.5(CAMK2B):c.219C>T (p.Ile73=)
|
rs371901503
|
0.00001
|
|
NM_001235.5(SERPINH1):c.393C>T (p.Gly131=)
|
rs760571465
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2507A>G (p.Tyr836Cys)
|
rs773004067
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.3515C>A (p.Thr1172Asn)
|
rs865860087
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.4359C>T (p.Ser1453=)
|
rs377333936
|
0.00001
|
|
NM_001242957.3(MAK):c.968C>G (p.Pro323Arg)
|
rs200641218
|
0.00001
|
|
NM_001243177.4(ALDOA):c.1134G>A (p.Ala378=)
|
rs530089317
|
0.00001
|
|
NM_001243177.4(ALDOA):c.996G>C (p.Glu332Asp)
|
rs565013143
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1127-7C>G
|
rs761564953
|
0.00001
|
|
NM_001244008.2(KIF1A):c.3288C>T (p.Arg1096=)
|
rs542427011
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4648C>T (p.Arg1550Trp)
|
rs1468401006
|
0.00001
|
|
NM_001244008.2(KIF1A):c.4971C>A (p.Asp1657Glu)
|
rs184939069
|
0.00001
|
|
NM_001244710.2(GFPT1):c.1010-10A>G
|
rs753072061
|
0.00001
|
|
NM_001244710.2(GFPT1):c.2001C>T (p.Ser667=)
|
rs765856240
|
0.00001
|
|
NM_001252024.2(TRPM1):c.435C>A (p.Gly145=)
|
rs774819442
|
0.00001
|
|
NM_001256317.3(TMPRSS3):c.446+4A>T
|
rs376253981
|
0.00001
|
|
NM_001256317.3(TMPRSS3):c.496C>T (p.Arg166Trp)
|
rs781395690
|
0.00001
|
|
NM_001256317.3(TMPRSS3):c.783-13C>A
|
rs140443203
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1008C>T (p.Ser336=)
|
rs145815113
|
0.00001
|
|
NM_001256545.2(MEGF10):c.1215C>T (p.Tyr405=)
|
rs781762135
|
0.00001
|
|
NM_001256545.2(MEGF10):c.789G>A (p.Val263=)
|
rs1188804374
|
0.00001
|
|
NM_001256545.2(MEGF10):c.951C>T (p.Gly317=)
|
rs145870973
|
0.00001
|
|
NM_001256850.1(TTN):c.18197-4A>G
|
rs1025136671
|
0.00001
|
|
NM_001267550.2(TTN):c.100167A>G (p.Pro33389=)
|
rs778478048
|
0.00001
|
|
NM_001267550.2(TTN):c.100629T>C (p.Tyr33543=)
|
rs772935423
|
0.00001
|
|
NM_001267550.2(TTN):c.100642T>C (p.Phe33548Leu)
|
rs773561397
|
0.00001
|
|
NM_001267550.2(TTN):c.100662G>A (p.Gln33554=)
|
rs1036339690
|
0.00001
|
|
NM_001267550.2(TTN):c.101728G>A (p.Glu33910Lys)
|
rs943777958
|
0.00001
|
|
NM_001267550.2(TTN):c.102025T>C (p.Leu34009=)
|
rs794727543
|
0.00001
|
|
NM_001267550.2(TTN):c.102164T>C (p.Val34055Ala)
|
rs752582515
|
0.00001
|
|
NM_001267550.2(TTN):c.102562G>A (p.Glu34188Lys)
|
rs577667352
|
0.00001
|
|
NM_001267550.2(TTN):c.10288A>C (p.Asn3430His)
|
rs376029089
|
0.00001
|
|
NM_001267550.2(TTN):c.102963C>T (p.Asn34321=)
|
rs528502993
|
0.00001
|
|
NM_001267550.2(TTN):c.103207C>T (p.Leu34403=)
|
rs773892755
|
0.00001
|
|
NM_001267550.2(TTN):c.103609C>T (p.Arg34537Trp)
|
rs753957126
|
0.00001
|
|
NM_001267550.2(TTN):c.103787G>A (p.Arg34596His)
|
rs762235688
|
0.00001
|
|
NM_001267550.2(TTN):c.104015C>T (p.Ala34672Val)
|
rs79666048
|
0.00001
|
|
NM_001267550.2(TTN):c.104126G>A (p.Arg34709His)
|
rs574420969
|
0.00001
|
|
NM_001267550.2(TTN):c.104179A>G (p.Arg34727Gly)
|
rs555555534
|
0.00001
|
|
NM_001267550.2(TTN):c.104457C>T (p.Tyr34819=)
|
rs548677252
|
0.00001
|
|
NM_001267550.2(TTN):c.105049A>G (p.Thr35017Ala)
|
rs368779151
|
0.00001
|
|
NM_001267550.2(TTN):c.105391A>G (p.Ile35131Val)
|
rs779464128
|
0.00001
|
|
NM_001267550.2(TTN):c.105491G>A (p.Arg35164His)
|
rs768358201
|
0.00001
|
|
NM_001267550.2(TTN):c.105852C>G (p.Ala35284=)
|
rs776786546
|
0.00001
|
|
NM_001267550.2(TTN):c.105999G>A (p.Gln35333=)
|
rs764231632
|
0.00001
|
|
NM_001267550.2(TTN):c.106343G>A (p.Arg35448Gln)
|
rs369703073
|
0.00001
|
|
NM_001267550.2(TTN):c.107200G>A (p.Glu35734Lys)
|
rs374992991
|
0.00001
|
|
NM_001267550.2(TTN):c.107254C>T (p.Arg35752Cys)
|
rs528535076
|
0.00001
|
|
NM_001267550.2(TTN):c.107393C>T (p.Pro35798Leu)
|
rs886038722
|
0.00001
|
|
NM_001267550.2(TTN):c.107657A>G (p.Lys35886Arg)
|
rs727504465
|
0.00001
|
|
NM_001267550.2(TTN):c.107832G>A (p.Arg35944=)
|
rs759154562
|
0.00001
|
|
NM_001267550.2(TTN):c.11506G>A (p.Val3836Met)
|
rs397517825
|
0.00001
|
|
NM_001267550.2(TTN):c.12387G>A (p.Arg4129=)
|
rs199546417
|
0.00001
|
|
NM_001267550.2(TTN):c.15544G>A (p.Gly5182Arg)
|
rs775552018
|
0.00001
|
|
NM_001267550.2(TTN):c.16078A>G (p.Thr5360Ala)
|
rs749081117
|
0.00001
|
|
NM_001267550.2(TTN):c.16790C>T (p.Ser5597Phe)
|
rs754116386
|
0.00001
|
|
NM_001267550.2(TTN):c.17082G>T (p.Leu5694=)
|
rs750996600
|
0.00001
|
|
NM_001267550.2(TTN):c.17227C>T (p.Arg5743Trp)
|
rs377193479
|
0.00001
|
|
NM_001267550.2(TTN):c.17280G>A (p.Thr5760=)
|
rs748617936
|
0.00001
|
|
NM_001267550.2(TTN):c.17500G>A (p.Val5834Ile)
|
rs727505221
|
0.00001
|
|
NM_001267550.2(TTN):c.17928G>A (p.Leu5976=)
|
rs373963067
|
0.00001
|
|
NM_001267550.2(TTN):c.18669G>A (p.Thr6223=)
|
rs772600691
|
0.00001
|
|
NM_001267550.2(TTN):c.19036G>A (p.Val6346Met)
|
rs537966944
|
0.00001
|
|
NM_001267550.2(TTN):c.20169C>T (p.Ala6723=)
|
rs727504776
|
0.00001
|
|
NM_001267550.2(TTN):c.210G>T (p.Val70=)
|
rs746033038
|
0.00001
|
|
NM_001267550.2(TTN):c.2206G>A (p.Gly736Arg)
|
rs876658047
|
0.00001
|
|
NM_001267550.2(TTN):c.2227G>A (p.Ala743Thr)
|
rs370728359
|
0.00001
|
|
NM_001267550.2(TTN):c.23178G>A (p.Ser7726=)
|
rs753546095
|
0.00001
|
|
NM_001267550.2(TTN):c.23352G>A (p.Thr7784=)
|
rs745476881
|
0.00001
|
|
NM_001267550.2(TTN):c.23521A>T (p.Asn7841Tyr)
|
rs753072306
|
0.00001
|
|
NM_001267550.2(TTN):c.23939-13C>A
|
rs876658045
|
0.00001
|
|
NM_001267550.2(TTN):c.2535G>T (p.Glu845Asp)
|
rs768608500
|
0.00001
|
|
NM_001267550.2(TTN):c.25A>T (p.Thr9Ser)
|
rs1298028827
|
0.00001
|
|
NM_001267550.2(TTN):c.26116G>A (p.Asp8706Asn)
|
rs377074955
|
0.00001
|
|
NM_001267550.2(TTN):c.2629C>A (p.Pro877Thr)
|
rs751640052
|
0.00001
|
|
NM_001267550.2(TTN):c.2649C>T (p.Phe883=)
|
rs775588479
|
0.00001
|
|
NM_001267550.2(TTN):c.26529G>A (p.Thr8843=)
|
rs747558822
|
0.00001
|
|
NM_001267550.2(TTN):c.267G>A (p.Ala89=)
|
rs577716745
|
0.00001
|
|
NM_001267550.2(TTN):c.27136C>T (p.Pro9046Ser)
|
rs772800519
|
0.00001
|
|
NM_001267550.2(TTN):c.27198C>G (p.Asn9066Lys)
|
rs369529493
|
0.00001
|
|
NM_001267550.2(TTN):c.27328+5G>A
|
rs397517521
|
0.00001
|
|
NM_001267550.2(TTN):c.2766C>T (p.Arg922=)
|
rs372617952
|
0.00001
|
|
NM_001267550.2(TTN):c.27743C>A (p.Thr9248Asn)
|
rs397517523
|
0.00001
|
|
NM_001267550.2(TTN):c.27914G>A (p.Arg9305Gln)
|
rs397517527
|
0.00001
|
|
NM_001267550.2(TTN):c.28055T>C (p.Leu9352Ser)
|
rs776487201
|
0.00001
|
|
NM_001267550.2(TTN):c.2916G>A (p.Pro972=)
|
rs757569345
|
0.00001
|
|
NM_001267550.2(TTN):c.29227G>A (p.Gly9743Ser)
|
rs368073588
|
0.00001
|
|
NM_001267550.2(TTN):c.29999T>C (p.Leu10000Pro)
|
rs768379279
|
0.00001
|
|
NM_001267550.2(TTN):c.30022A>G (p.Met10008Val)
|
rs1553877757
|
0.00001
|
|
NM_001267550.2(TTN):c.3011A>C (p.Glu1004Ala)
|
rs1413214135
|
0.00001
|
|
NM_001267550.2(TTN):c.30224-7T>G
|
rs778458915
|
0.00001
|
|
NM_001267550.2(TTN):c.3070G>A (p.Val1024Ile)
|
rs368770038
|
0.00001
|
|
NM_001267550.2(TTN):c.31321G>A (p.Glu10441Lys)
|
rs901197333
|
0.00001
|
|
NM_001267550.2(TTN):c.3169G>A (p.Val1057Ile)
|
rs780035225
|
0.00001
|
|
NM_001267550.2(TTN):c.31846+5A>G
|
rs760788961
|
0.00001
|
|
NM_001267550.2(TTN):c.32470+4T>C
|
rs1390842582
|
0.00001
|
|
NM_001267550.2(TTN):c.33127C>T (p.Pro11043Ser)
|
rs746514747
|
0.00001
|
|
NM_001267550.2(TTN):c.33248-8C>G
|
rs766957102
|
0.00001
|
|
NM_001267550.2(TTN):c.3414A>G (p.Glu1138=)
|
rs777365068
|
0.00001
|
|
NM_001267550.2(TTN):c.3445G>A (p.Asp1149Asn)
|
rs368967197
|
0.00001
|
|
NM_001267550.2(TTN):c.34601T>C (p.Leu11534Pro)
|
rs376836503
|
0.00001
|
|
NM_001267550.2(TTN):c.34734A>G (p.Val11578=)
|
rs866407525
|
0.00001
|
|
NM_001267550.2(TTN):c.3524-3T>C
|
rs762717963
|
0.00001
|
|
NM_001267550.2(TTN):c.3616G>T (p.Ala1206Ser)
|
rs200749662
|
0.00001
|
|
NM_001267550.2(TTN):c.39473T>C (p.Val13158Ala)
|
rs1553769611
|
0.00001
|
|
NM_001267550.2(TTN):c.40408+7_40408+10dup
|
rs397517560
|
0.00001
|
|
NM_001267550.2(TTN):c.40558G>A (p.Val13520Ile)
|
rs587780488
|
0.00001
|
|
NM_001267550.2(TTN):c.4076A>G (p.Glu1359Gly)
|
rs370978752
|
0.00001
|
|
NM_001267550.2(TTN):c.40800C>A (p.Ile13600=)
|
rs879111430
|
0.00001
|
|
NM_001267550.2(TTN):c.40939A>G (p.Lys13647Glu)
|
rs777187629
|
0.00001
|
|
NM_001267550.2(TTN):c.41402G>A (p.Ser13801Asn)
|
rs757590541
|
0.00001
|
|
NM_001267550.2(TTN):c.41778T>C (p.Asp13926=)
|
rs766397292
|
0.00001
|
|
NM_001267550.2(TTN):c.42056G>A (p.Arg14019His)
|
rs374683153
|
0.00001
|
|
NM_001267550.2(TTN):c.42613T>C (p.Leu14205=)
|
rs747480084
|
0.00001
|
|
NM_001267550.2(TTN):c.42840T>G (p.Asp14280Glu)
|
rs760643071
|
0.00001
|
|
NM_001267550.2(TTN):c.4292G>A (p.Arg1431Gln)
|
rs373690688
|
0.00001
|
|
NM_001267550.2(TTN):c.42940G>A (p.Val14314Ile)
|
rs376881525
|
0.00001
|
|
NM_001267550.2(TTN):c.43565A>G (p.His14522Arg)
|
rs374085402
|
0.00001
|
|
NM_001267550.2(TTN):c.43623G>A (p.Ser14541=)
|
rs369434563
|
0.00001
|
|
NM_001267550.2(TTN):c.43716G>T (p.Gly14572=)
|
rs200065187
|
0.00001
|
|
NM_001267550.2(TTN):c.43748-7C>T
|
rs771927358
|
0.00001
|
|
NM_001267550.2(TTN):c.43836A>G (p.Ala14612=)
|
rs755492644
|
0.00001
|
|
NM_001267550.2(TTN):c.44112C>T (p.His14704=)
|
rs754693395
|
0.00001
|
|
NM_001267550.2(TTN):c.44599G>A (p.Gly14867Arg)
|
rs144848584
|
0.00001
|
|
NM_001267550.2(TTN):c.45310C>T (p.Leu15104Phe)
|
rs370782950
|
0.00001
|
|
NM_001267550.2(TTN):c.45586G>A (p.Ala15196Thr)
|
rs372872095
|
0.00001
|
|
NM_001267550.2(TTN):c.45598G>A (p.Ala15200Thr)
|
rs752318420
|
0.00001
|
|
NM_001267550.2(TTN):c.4641G>T (p.Val1547=)
|
rs1012929202
|
0.00001
|
|
NM_001267550.2(TTN):c.46899G>A (p.Gly15633=)
|
rs727504195
|
0.00001
|
|
NM_001267550.2(TTN):c.47258G>A (p.Arg15753Lys)
|
rs577133803
|
0.00001
|
|
NM_001267550.2(TTN):c.47430T>C (p.Thr15810=)
|
rs373878153
|
0.00001
|
|
NM_001267550.2(TTN):c.47481G>A (p.Gln15827=)
|
rs752514306
|
0.00001
|
|
NM_001267550.2(TTN):c.47758A>C (p.Lys15920Gln)
|
rs775513269
|
0.00001
|
|
NM_001267550.2(TTN):c.48143T>C (p.Ile16048Thr)
|
rs749678590
|
0.00001
|
|
NM_001267550.2(TTN):c.48960T>C (p.Asp16320=)
|
rs1057523898
|
0.00001
|
|
NM_001267550.2(TTN):c.50148T>A (p.Thr16716=)
|
rs374138859
|
0.00001
|
|
NM_001267550.2(TTN):c.5022C>G (p.Ala1674=)
|
rs753444772
|
0.00001
|
|
NM_001267550.2(TTN):c.50363T>C (p.Ile16788Thr)
|
rs397517599
|
0.00001
|
|
NM_001267550.2(TTN):c.50396T>G (p.Val16799Gly)
|
rs1222977459
|
0.00001
|
|
NM_001267550.2(TTN):c.50400A>T (p.Lys16800Asn)
|
rs794729239
|
0.00001
|
|
NM_001267550.2(TTN):c.50642G>C (p.Gly16881Ala)
|
rs201302681
|
0.00001
|
|
NM_001267550.2(TTN):c.51099C>T (p.Leu17033=)
|
rs755994820
|
0.00001
|
|
NM_001267550.2(TTN):c.51122A>G (p.Asn17041Ser)
|
rs774659339
|
0.00001
|
|
NM_001267550.2(TTN):c.51231C>A (p.Thr17077=)
|
rs779518431
|
0.00001
|
|
NM_001267550.2(TTN):c.51527G>C (p.Gly17176Ala)
|
rs768961892
|
0.00001
|
|
NM_001267550.2(TTN):c.52144A>G (p.Arg17382Gly)
|
rs397517607
|
0.00001
|
|
NM_001267550.2(TTN):c.52243G>A (p.Asp17415Asn)
|
rs397517609
|
0.00001
|
|
NM_001267550.2(TTN):c.52374T>C (p.Val17458=)
|
rs752571545
|
0.00001
|
|
NM_001267550.2(TTN):c.52920C>T (p.Tyr17640=)
|
rs1553687219
|
0.00001
|
|
NM_001267550.2(TTN):c.52948G>A (p.Ala17650Thr)
|
rs535008556
|
0.00001
|
|
NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu)
|
rs397517612
|
0.00001
|
|
NM_001267550.2(TTN):c.53625A>G (p.Thr17875=)
|
rs373277508
|
0.00001
|
|
NM_001267550.2(TTN):c.53717A>G (p.Lys17906Arg)
|
rs727503606
|
0.00001
|
|
NM_001267550.2(TTN):c.54874G>C (p.Gly18292Arg)
|
rs377512675
|
0.00001
|
|
NM_001267550.2(TTN):c.55010C>T (p.Pro18337Leu)
|
rs764568599
|
0.00001
|
|
NM_001267550.2(TTN):c.55290C>T (p.Pro18430=)
|
rs777904054
|
0.00001
|
|
NM_001267550.2(TTN):c.55341G>A (p.Pro18447=)
|
rs779464399
|
0.00001
|
|
NM_001267550.2(TTN):c.55503G>A (p.Lys18501=)
|
rs879239475
|
0.00001
|
|
NM_001267550.2(TTN):c.55986C>T (p.Val18662=)
|
rs747136342
|
0.00001
|
|
NM_001267550.2(TTN):c.56256G>A (p.Pro18752=)
|
rs111262307
|
0.00001
|
|
NM_001267550.2(TTN):c.56376A>G (p.Ile18792Met)
|
rs794729241
|
0.00001
|
|
NM_001267550.2(TTN):c.56461G>A (p.Val18821Ile)
|
rs1576247575
|
0.00001
|
|
NM_001267550.2(TTN):c.56963-3C>T
|
rs375979145
|
0.00001
|
|
NM_001267550.2(TTN):c.57243T>A (p.Ile19081=)
|
rs1185555417
|
0.00001
|
|
NM_001267550.2(TTN):c.57860G>A (p.Arg19287His)
|
rs371422299
|
0.00001
|
|
NM_001267550.2(TTN):c.58022G>A (p.Ser19341Asn)
|
rs536645864
|
0.00001
|
|
NM_001267550.2(TTN):c.58191G>A (p.Thr19397=)
|
rs370091658
|
0.00001
|
|
NM_001267550.2(TTN):c.583+5G>A
|
rs397517663
|
0.00001
|
|
NM_001267550.2(TTN):c.58653T>C (p.Ile19551=)
|
rs727504980
|
0.00001
|
|
NM_001267550.2(TTN):c.59502T>C (p.Asp19834=)
|
rs972823319
|
0.00001
|
|
NM_001267550.2(TTN):c.59812G>A (p.Ala19938Thr)
|
rs755204306
|
0.00001
|
|
NM_001267550.2(TTN):c.60342C>T (p.Thr20114=)
|
rs529529087
|
0.00001
|
|
NM_001267550.2(TTN):c.61355T>A (p.Ile20452Asn)
|
rs375946418
|
0.00001
|
|
NM_001267550.2(TTN):c.62275G>A (p.Glu20759Lys)
|
rs562680371
|
0.00001
|
|
NM_001267550.2(TTN):c.6243C>T (p.Phe2081=)
|
rs770052197
|
0.00001
|
|
NM_001267550.2(TTN):c.62609A>C (p.Asn20870Thr)
|
rs376338324
|
0.00001
|
|
NM_001267550.2(TTN):c.63743T>C (p.Leu21248Pro)
|
rs745323281
|
0.00001
|
|
NM_001267550.2(TTN):c.6406T>C (p.Leu2136=)
|
rs765377738
|
0.00001
|
|
NM_001267550.2(TTN):c.64253A>C (p.Tyr21418Ser)
|
rs573165930
|
0.00001
|
|
NM_001267550.2(TTN):c.64283T>C (p.Val21428Ala)
|
rs1576014979
|
0.00001
|
|
NM_001267550.2(TTN):c.64642G>T (p.Asp21548Tyr)
|
rs749070255
|
0.00001
|
|
NM_001267550.2(TTN):c.64785T>C (p.Tyr21595=)
|
rs751009684
|
0.00001
|
|
NM_001267550.2(TTN):c.65514C>T (p.Thr21838=)
|
rs372543748
|
0.00001
|
|
NM_001267550.2(TTN):c.65629G>T (p.Ala21877Ser)
|
rs72646866
|
0.00001
|
|
NM_001267550.2(TTN):c.65794G>A (p.Gly21932Arg)
|
rs373636513
|
0.00001
|
|
NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp)
|
rs571093313
|
0.00001
|
|
NM_001267550.2(TTN):c.67280G>A (p.Arg22427Gln)
|
rs770566210
|
0.00001
|
|
NM_001267550.2(TTN):c.67834G>A (p.Asp22612Asn)
|
rs757888367
|
0.00001
|
|
NM_001267550.2(TTN):c.6791-11A>G
|
rs368202177
|
0.00001
|
|
NM_001267550.2(TTN):c.68083G>A (p.Ala22695Thr)
|
rs767279296
|
0.00001
|
|
NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu)
|
rs727505352
|
0.00001
|
|
NM_001267550.2(TTN):c.68825-7T>A
|
rs767881914
|
0.00001
|
|
NM_001267550.2(TTN):c.68997C>A (p.Thr22999=)
|
rs369068922
|
0.00001
|
|
NM_001267550.2(TTN):c.69508G>A (p.Glu23170Lys)
|
rs1334543067
|
0.00001
|
|
NM_001267550.2(TTN):c.69575C>T (p.Thr23192Ile)
|
rs1319888327
|
0.00001
|
|
NM_001267550.2(TTN):c.69639T>C (p.Arg23213=)
|
rs1487392148
|
0.00001
|
|
NM_001267550.2(TTN):c.69957C>G (p.Ile23319Met)
|
rs540840413
|
0.00001
|
|
NM_001267550.2(TTN):c.70562C>G (p.Thr23521Arg)
|
rs775589244
|
0.00001
|
|
NM_001267550.2(TTN):c.71368C>T (p.Arg23790Cys)
|
rs775743818
|
0.00001
|
|
NM_001267550.2(TTN):c.71667T>C (p.Ser23889=)
|
rs756824434
|
0.00001
|
|
NM_001267550.2(TTN):c.7173C>T (p.Asp2391=)
|
rs374509926
|
0.00001
|
|
NM_001267550.2(TTN):c.71881G>A (p.Val23961Ile)
|
rs397517690
|
0.00001
|
|
NM_001267550.2(TTN):c.72167G>A (p.Arg24056His)
|
rs398124455
|
0.00001
|
|
NM_001267550.2(TTN):c.72231A>G (p.Glu24077=)
|
rs1423712037
|
0.00001
|
|
NM_001267550.2(TTN):c.72803G>A (p.Arg24268His)
|
rs140018785
|
0.00001
|
|
NM_001267550.2(TTN):c.73224G>A (p.Gly24408=)
|
rs371034493
|
0.00001
|
|
NM_001267550.2(TTN):c.73705G>C (p.Val24569Leu)
|
rs755676676
|
0.00001
|
|
NM_001267550.2(TTN):c.74331C>T (p.Asp24777=)
|
rs368530092
|
0.00001
|
|
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp)
|
rs373527654
|
0.00001
|
|
NM_001267550.2(TTN):c.74763C>T (p.Ser24921=)
|
rs371563258
|
0.00001
|
|
NM_001267550.2(TTN):c.74766G>C (p.Arg24922Ser)
|
rs372814940
|
0.00001
|
|
NM_001267550.2(TTN):c.74860C>T (p.Leu24954Phe)
|
rs202191466
|
0.00001
|
|
NM_001267550.2(TTN):c.74981C>T (p.Pro24994Leu)
|
rs531281558
|
0.00001
|
|
NM_001267550.2(TTN):c.7502G>A (p.Arg2501Gln)
|
rs369559000
|
0.00001
|
|
NM_001267550.2(TTN):c.76124A>T (p.Tyr25375Phe)
|
rs374494927
|
0.00001
|
|
NM_001267550.2(TTN):c.76952T>C (p.Val25651Ala)
|
rs370768049
|
0.00001
|
|
NM_001267550.2(TTN):c.77166T>C (p.Pro25722=)
|
rs757252494
|
0.00001
|
|
NM_001267550.2(TTN):c.7758A>G (p.Ile2586Met)
|
rs556000493
|
0.00001
|
|
NM_001267550.2(TTN):c.7783A>G (p.Met2595Val)
|
rs760786665
|
0.00001
|
|
NM_001267550.2(TTN):c.77978C>T (p.Pro25993Leu)
|
rs771646684
|
0.00001
|
|
NM_001267550.2(TTN):c.78000A>G (p.Thr26000=)
|
rs1178033234
|
0.00001
|
|
NM_001267550.2(TTN):c.7818G>A (p.Ala2606=)
|
rs935809232
|
0.00001
|
|
NM_001267550.2(TTN):c.78372T>C (p.Ile26124=)
|
rs886044461
|
0.00001
|
|
NM_001267550.2(TTN):c.79591G>A (p.Glu26531Lys)
|
rs772211147
|
0.00001
|
|
NM_001267550.2(TTN):c.795C>T (p.Ser265=)
|
rs780802517
|
0.00001
|
|
NM_001267550.2(TTN):c.79855C>T (p.Arg26619Cys)
|
rs757229467
|
0.00001
|
|
NM_001267550.2(TTN):c.79976G>C (p.Gly26659Ala)
|
rs574711878
|
0.00001
|
|
NM_001267550.2(TTN):c.8013C>A (p.Gly2671=)
|
rs369439944
|
0.00001
|
|
NM_001267550.2(TTN):c.80209T>A (p.Cys26737Ser)
|
rs566764105
|
0.00001
|
|
NM_001267550.2(TTN):c.80228A>C (p.Lys26743Thr)
|
rs368263400
|
0.00001
|
|
NM_001267550.2(TTN):c.80712A>G (p.Ile26904Met)
|
rs773395582
|
0.00001
|
|
NM_001267550.2(TTN):c.80841T>C (p.Phe26947=)
|
rs1015506783
|
0.00001
|
|
NM_001267550.2(TTN):c.82448A>G (p.Lys27483Arg)
|
rs937111656
|
0.00001
|
|
NM_001267550.2(TTN):c.82539C>T (p.Gly27513=)
|
rs775673876
|
0.00001
|
|
NM_001267550.2(TTN):c.82732A>G (p.Lys27578Glu)
|
rs368850871
|
0.00001
|
|
NM_001267550.2(TTN):c.82933C>T (p.Arg27645Cys)
|
rs751318609
|
0.00001
|
|
NM_001267550.2(TTN):c.82934G>A (p.Arg27645His)
|
rs766522109
|
0.00001
|
|
NM_001267550.2(TTN):c.83017C>A (p.Pro27673Thr)
|
rs769343491
|
0.00001
|
|
NM_001267550.2(TTN):c.84157C>T (p.Leu28053Phe)
|
rs1194981313
|
0.00001
|
|
NM_001267550.2(TTN):c.84398A>G (p.Asn28133Ser)
|
rs727505053
|
0.00001
|
|
NM_001267550.2(TTN):c.84696A>C (p.Glu28232Asp)
|
rs397517730
|
0.00001
|
|
NM_001267550.2(TTN):c.85096G>A (p.Val28366Ile)
|
rs367800789
|
0.00001
|
|
NM_001267550.2(TTN):c.85746A>C (p.Ile28582=)
|
rs771116739
|
0.00001
|
|
NM_001267550.2(TTN):c.85953A>G (p.Leu28651=)
|
rs546573613
|
0.00001
|
|
NM_001267550.2(TTN):c.86085C>T (p.Asp28695=)
|
rs773001228
|
0.00001
|
|
NM_001267550.2(TTN):c.86140G>A (p.Gly28714Arg)
|
rs532818379
|
0.00001
|
|
NM_001267550.2(TTN):c.864C>T (p.His288=)
|
rs772543040
|
0.00001
|
|
NM_001267550.2(TTN):c.86836C>G (p.Pro28946Ala)
|
rs748587720
|
0.00001
|
|
NM_001267550.2(TTN):c.87001G>A (p.Val29001Ile)
|
rs750591986
|
0.00001
|
|
NM_001267550.2(TTN):c.87081A>G (p.Arg29027=)
|
rs886042694
|
0.00001
|
|
NM_001267550.2(TTN):c.87345T>C (p.Tyr29115=)
|
rs369444690
|
0.00001
|
|
NM_001267550.2(TTN):c.87600G>C (p.Met29200Ile)
|
rs750362675
|
0.00001
|
|
NM_001267550.2(TTN):c.88514G>A (p.Arg29505His)
|
rs143193258
|
0.00001
|
|
NM_001267550.2(TTN):c.88983C>T (p.Gly29661=)
|
rs371678936
|
0.00001
|
|
NM_001267550.2(TTN):c.89258T>A (p.Leu29753His)
|
rs369279892
|
0.00001
|
|
NM_001267550.2(TTN):c.89552C>A (p.Ala29851Asp)
|
rs774885355
|
0.00001
|
|
NM_001267550.2(TTN):c.89639T>G (p.Leu29880Arg)
|
rs781165041
|
0.00001
|
|
NM_001267550.2(TTN):c.90159A>C (p.Lys30053Asn)
|
rs886039117
|
0.00001
|
|
NM_001267550.2(TTN):c.90246A>G (p.Ile30082Met)
|
rs886038812
|
0.00001
|
|
NM_001267550.2(TTN):c.90742G>A (p.Val30248Ile)
|
rs727505024
|
0.00001
|
|
NM_001267550.2(TTN):c.9108T>C (p.Ala3036=)
|
rs886044544
|
0.00001
|
|
NM_001267550.2(TTN):c.91199A>T (p.Tyr30400Phe)
|
rs376494747
|
0.00001
|
|
NM_001267550.2(TTN):c.91224C>T (p.Ser30408=)
|
rs1057522835
|
0.00001
|
|
NM_001267550.2(TTN):c.91643C>T (p.Ala30548Val)
|
rs553668520
|
0.00001
|
|
NM_001267550.2(TTN):c.9176A>T (p.Glu3059Val)
|
rs727504501
|
0.00001
|
|
NM_001267550.2(TTN):c.918C>T (p.Ser306=)
|
rs773898647
|
0.00001
|
|
NM_001267550.2(TTN):c.92058C>T (p.Asn30686=)
|
rs545632095
|
0.00001
|
|
NM_001267550.2(TTN):c.92780T>A (p.Ile30927Lys)
|
rs531432790
|
0.00001
|
|
NM_001267550.2(TTN):c.92951A>G (p.Glu30984Gly)
|
rs770525487
|
0.00001
|
|
NM_001267550.2(TTN):c.93288T>C (p.Tyr31096=)
|
rs1280272876
|
0.00001
|
|
NM_001267550.2(TTN):c.93603C>T (p.Phe31201=)
|
rs765759269
|
0.00001
|
|
NM_001267550.2(TTN):c.93972A>G (p.Glu31324=)
|
rs727504528
|
0.00001
|
|
NM_001267550.2(TTN):c.94053G>A (p.Ser31351=)
|
rs777229309
|
0.00001
|
|
NM_001267550.2(TTN):c.9434G>A (p.Arg3145Lys)
|
rs727503682
|
0.00001
|
|
NM_001267550.2(TTN):c.94590A>G (p.Pro31530=)
|
rs558347312
|
0.00001
|
|
NM_001267550.2(TTN):c.95085G>T (p.Gly31695=)
|
rs746787955
|
0.00001
|
|
NM_001267550.2(TTN):c.95539C>T (p.Arg31847Cys)
|
rs774814532
|
0.00001
|
|
NM_001267550.2(TTN):c.95686G>A (p.Glu31896Lys)
|
rs745365163
|
0.00001
|
|
NM_001267550.2(TTN):c.97192+6G>A
|
rs367760700
|
0.00001
|
|
NM_001267550.2(TTN):c.97294C>T (p.Leu32432=)
|
rs72648267
|
0.00001
|
|
NM_001267550.2(TTN):c.97418G>A (p.Arg32473His)
|
rs397517770
|
0.00001
|
|
NM_001267550.2(TTN):c.97612C>T (p.Arg32538Cys)
|
rs761050391
|
0.00001
|
|
NM_001267550.2(TTN):c.97673G>A (p.Arg32558Gln)
|
rs369237346
|
0.00001
|
|
NM_001267550.2(TTN):c.97742G>T (p.Gly32581Val)
|
rs397517771
|
0.00001
|
|
NM_001267550.2(TTN):c.97947G>C (p.Lys32649Asn)
|
rs773776767
|
0.00001
|
|
NM_001267550.2(TTN):c.9802C>T (p.Pro3268Ser)
|
rs912372716
|
0.00001
|
|
NM_001267550.2(TTN):c.98341T>C (p.Cys32781Arg)
|
rs562178341
|
0.00001
|
|
NM_001267550.2(TTN):c.98465A>G (p.Asp32822Gly)
|
rs191054704
|
0.00001
|
|
NM_001267550.2(TTN):c.98781T>C (p.Ser32927=)
|
rs750855113
|
0.00001
|
|
NM_001270508.2(TNFAIP3):c.1771C>G (p.Leu591Val)
|
rs145392420
|
0.00001
|
|
NM_001270508.2(TNFAIP3):c.2269C>A (p.Pro757Thr)
|
rs771436999
|
0.00001
|
|
NM_001271.4(CHD2):c.1503-5T>C
|
rs1008040869
|
0.00001
|
|
NM_001271.4(CHD2):c.3386A>G (p.Glu1129Gly)
|
rs927604763
|
0.00001
|
|
NM_001271.4(CHD2):c.4976G>A (p.Ser1659Asn)
|
rs748829883
|
0.00001
|
|
NM_001271.4(CHD2):c.5120G>A (p.Arg1707Gln)
|
rs61759469
|
0.00001
|
|
NM_001271.4(CHD2):c.630G>T (p.Glu210Asp)
|
rs749147803
|
0.00001
|
|
NM_001276345.2(TNNT2):c.-3A>G
|
rs752977897
|
0.00001
|
|
NM_001276345.2(TNNT2):c.200-4C>G
|
rs397516448
|
0.00001
|
|
NM_001276345.2(TNNT2):c.411C>T (p.Ile137=)
|
rs727504322
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11546G>T (p.Gly3849Val)
|
rs145735492
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13035T>C (p.Tyr4345=)
|
rs545264816
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1995C>T (p.His665=)
|
rs752831166
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2515C>G (p.Gln839Glu)
|
rs1427132712
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3050T>G (p.Met1017Arg)
|
rs949130021
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4334G>A (p.Arg1445Gln)
|
rs751896015
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4713T>C (p.Asp1571=)
|
rs72657324
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5475A>G (p.Gln1825=)
|
rs373354778
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5846G>A (p.Arg1949Gln)
|
rs761919869
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8099C>T (p.Thr2700Met)
|
rs369684624
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8345A>T (p.Gln2782Leu)
|
rs1420930266
|
0.00001
|
|
NM_001277115.2(DNAH11):c.891A>G (p.Ala297=)
|
rs201934527
|
0.00001
|
|
NM_001277115.2(DNAH11):c.938G>T (p.Ser313Ile)
|
rs1388667729
|
0.00001
|
|
NM_001277115.2(DNAH11):c.982+12G>A
|
rs546259810
|
0.00001
|
|
NM_001278064.2(GRM1):c.3300C>A (p.Ser1100Arg)
|
rs1227591846
|
0.00001
|
|
NM_001278116.2(L1CAM):c.1304C>T (p.Thr435Met)
|
rs371999853
|
0.00001
|
|
NM_001278116.2(L1CAM):c.1841C>T (p.Pro614Leu)
|
rs1557091552
|
0.00001
|
|
NM_001278116.2(L1CAM):c.1880C>T (p.Thr627Met)
|
rs398123360
|
0.00001
|
|
NM_001278116.2(L1CAM):c.255C>T (p.Thr85=)
|
rs201886318
|
0.00001
|
|
NM_001278116.2(L1CAM):c.2698G>A (p.Gly900Arg)
|
rs782097679
|
0.00001
|
|
NM_001278116.2(L1CAM):c.2722G>A (p.Glu908Lys)
|
rs199822230
|
0.00001
|
|
NM_001278116.2(L1CAM):c.3118G>A (p.Glu1040Lys)
|
rs1557090130
|
0.00001
|
|
NM_001278116.2(L1CAM):c.666G>A (p.Lys222=)
|
rs782615469
|
0.00001
|
|
NM_001278116.2(L1CAM):c.726G>T (p.Leu242=)
|
rs200813995
|
0.00001
|
|
NM_001278116.2(L1CAM):c.860G>A (p.Arg287His)
|
rs200402620
|
0.00001
|
|
NM_001278431.2(C1QTNF5):c.198C>T (p.Gly66=)
|
rs932268494
|
0.00001
|
|
NM_001278431.2(C1QTNF5):c.306G>A (p.Pro102=)
|
rs751346951
|
0.00001
|
|
NM_001278512.2(AP3B2):c.1053C>T (p.His351=)
|
rs1177973989
|
0.00001
|
|
NM_001282531.3(ADNP):c.191C>T (p.Thr64Met)
|
rs752399004
|
0.00001
|
|
NM_001283009.2(RTEL1):c.3184G>A (p.Ala1062Thr)
|
rs773397014
|
0.00001
|
|
NM_001286577.2(C2CD3):c.3196C>T (p.Leu1066Phe)
|
rs187512156
|
0.00001
|
|
NM_001288705.3(CSF1R):c.1056T>C (p.Ala352=)
|
rs755681714
|
0.00001
|
|
NM_001289808.2(CRYAB):c.324+3A>G
|
rs1057520897
|
0.00001
|
|
NM_001291303.3(FAT4):c.2057G>A (p.Ser686Asn)
|
rs374104309
|
0.00001
|
|
NM_001291303.3(FAT4):c.2896A>G (p.Ile966Val)
|
rs778631726
|
0.00001
|
|
NM_001291415.2(KDM6A):c.4208G>A (p.Arg1403Gln)
|
rs370765411
|
0.00001
|
|
NM_001291867.2(NHS):c.822G>A (p.Arg274=)
|
rs1192420369
|
0.00001
|
|
NM_001292063.2(OTOG):c.3124G>T (p.Asp1042Tyr)
|
rs973728066
|
0.00001
|
|
NM_001292063.2(OTOG):c.5303A>G (p.Glu1768Gly)
|
rs876657555
|
0.00001
|
|
NM_001292063.2(OTOG):c.7268-7T>A
|
rs911853347
|
0.00001
|
|
NM_001297.5(CNGB1):c.705C>T (p.Pro235=)
|
rs748140894
|
0.00001
|
|
NM_001298.3(CNGA3):c.1831C>T (p.Leu611=)
|
rs747855074
|
0.00001
|
|
NM_001305581.2(LRMDA):c.602-8A>T
|
rs565236615
|
0.00001
|
|
NM_001321759.2(CDIN1):c.26A>G (p.Asp9Gly)
|
rs369346271
|
0.00001
|
|
NM_001323289.2(CDKL5):c.1676G>A (p.Arg559Gln)
|
rs1926294168
|
0.00001
|
|
NM_001323289.2(CDKL5):c.2152+10C>G
|
rs763466606
|
0.00001
|
|
NM_001330078.2(NRXN1):c.1326A>C (p.Val442=)
|
rs201485014
|
0.00001
|
|
NM_001330078.2(NRXN1):c.1760-13C>G
|
rs886056171
|
0.00001
|
|
NM_001330078.2(NRXN1):c.2698A>C (p.Arg900=)
|
rs574531814
|
0.00001
|
|
NM_001330078.2(NRXN1):c.3012G>A (p.Lys1004=)
|
rs201118246
|
0.00001
|
|
NM_001330078.2(NRXN1):c.3042C>T (p.Thr1014=)
|
rs75137449
|
0.00001
|
|
NM_001330078.2(NRXN1):c.3071-10C>T
|
rs398123573
|
0.00001
|
|
NM_001330078.2(NRXN1):c.3237A>G (p.Gly1079=)
|
rs886056170
|
0.00001
|
|
NM_001330078.2(NRXN1):c.3245-4G>T
|
rs1057520338
|
0.00001
|
|
NM_001330078.2(NRXN1):c.3364+3A>G
|
rs762891600
|
0.00001
|
|
NM_001330078.2(NRXN1):c.772+1024C>G
|
rs199645252
|
0.00001
|
|
NM_001330260.2(SCN8A):c.1880C>T (p.Ser627Leu)
|
rs1198276041
|
0.00001
|
|
NM_001330260.2(SCN8A):c.2733C>T (p.Asp911=)
|
rs763201344
|
0.00001
|
|
NM_001330260.2(SCN8A):c.3164G>A (p.Arg1055Gln)
|
rs756127631
|
0.00001
|
|
NM_001330260.2(SCN8A):c.3327C>T (p.Asn1109=)
|
rs1349215930
|
0.00001
|
|
NM_001330260.2(SCN8A):c.4687A>G (p.Ile1563Val)
|
rs751979396
|
0.00001
|
|
NM_001330260.2(SCN8A):c.929-4C>G
|
rs771227940
|
0.00001
|
|
NM_001330311.2(DVL1):c.1716G>C (p.Gly572=)
|
rs773112898
|
0.00001
|
|
NM_001330574.2(ZNF711):c.1873C>T (p.Arg625Cys)
|
rs995774322
|
0.00001
|
|
NM_001347721.2(DYRK1A):c.2085C>G (p.Val695=)
|
rs372748919
|
0.00001
|
|
NM_001349206.2(LPIN1):c.2162+5G>A
|
rs773021902
|
0.00001
|
|
NM_001349338.3(FOXP1):c.1964C>T (p.Ala655Val)
|
rs762475508
|
0.00001
|
|
NM_001349338.3(FOXP1):c.321C>T (p.Ile107=)
|
rs747108471
|
0.00001
|
|
NM_001352514.2(HLCS):c.1719C>T (p.Tyr573=)
|
rs148814769
|
0.00001
|
|
NM_001352514.2(HLCS):c.609C>T (p.Asp203=)
|
rs370118884
|
0.00001
|
|
NM_001352514.2(HLCS):c.723C>A (p.Gly241=)
|
rs886057077
|
0.00001
|
|
NM_001352514.2(HLCS):c.840C>T (p.Tyr280=)
|
rs779907293
|
0.00001
|
|
NM_001355436.2(SPTB):c.5319C>T (p.Asp1773=)
|
rs767020547
|
0.00001
|
|
NM_001355436.2(SPTB):c.6324G>A (p.Ala2108=)
|
rs756164746
|
0.00001
|
|
NM_001358530.2(MOCS1):c.1788T>G (p.Ser596=)
|
rs200764011
|
0.00001
|
|
NM_001358530.2(MOCS1):c.426C>T (p.Leu142=)
|
rs375882259
|
0.00001
|
|
NM_001360.3(DHCR7):c.225C>T (p.Ile75=)
|
rs755182484
|
0.00001
|
|
NM_001360.3(DHCR7):c.226G>A (p.Val76Ile)
|
rs368473756
|
0.00001
|
|
NM_001360.3(DHCR7):c.322-7G>A
|
rs1359774813
|
0.00001
|
|
NM_001360.3(DHCR7):c.51C>T (p.Gly17=)
|
rs776713087
|
0.00001
|
|
NM_001360.3(DHCR7):c.756C>T (p.Asn252=)
|
rs774666247
|
0.00001
|
|
NM_001360.3(DHCR7):c.831+7G>A
|
rs1318919210
|
0.00001
|
|
NM_001364905.1(LRBA):c.6053A>G (p.Asp2018Gly)
|
rs891747847
|
0.00001
|
|
NM_001365088.1(SLC12A6):c.1707A>G (p.Pro569=)
|
rs764272139
|
0.00001
|
|
NM_001365088.1(SLC12A6):c.964G>A (p.Gly322Ser)
|
rs75235010
|
0.00001
|
|
NM_001365276.2(TNXB):c.1290C>T (p.Cys430=)
|
rs1331733789
|
0.00001
|
|
NM_001365276.2(TNXB):c.3034G>A (p.Val1012Ile)
|
rs751045102
|
0.00001
|
|
NM_001365276.2(TNXB):c.6550G>A (p.Glu2184Lys)
|
rs754026612
|
0.00001
|
|
NM_001365308.1(BMPER):c.134-17T>C
|
rs542452381
|
0.00001
|
|
NM_001365536.1(SCN9A):c.*669A>G
|
rs538508619
|
0.00001
|
|
NM_001365536.1(SCN9A):c.1347T>C (p.Ser449=)
|
rs201990547
|
0.00001
|
|
NM_001365536.1(SCN9A):c.1482G>T (p.Lys494Asn)
|
rs777699798
|
0.00001
|
|
NM_001365536.1(SCN9A):c.1713C>T (p.Ala571=)
|
rs200876333
|
0.00001
|
|
NM_001365951.3(KIF1B):c.1038-5del
|
rs886044976
|
0.00001
|
|
NM_001365999.1(SZT2):c.2086C>T (p.Arg696Trp)
|
rs574115531
|
0.00001
|
|
NM_001365999.1(SZT2):c.5072A>C (p.Glu1691Ala)
|
rs772997069
|
0.00001
|
|
NM_001365999.1(SZT2):c.5316A>G (p.Glu1772=)
|
rs797046032
|
0.00001
|
|
NM_001366110.1(PAX4):c.771+6C>T
|
rs377152445
|
0.00001
|
|
NM_001366722.1(GRIP1):c.2882G>A (p.Arg961Gln)
|
rs570235851
|
0.00001
|
|
NM_001367561.1(DOCK7):c.1142A>G (p.Lys381Arg)
|
rs148287864
|
0.00001
|
|
NM_001367561.1(DOCK7):c.3546A>G (p.Gln1182=)
|
rs760052391
|
0.00001
|
|
NM_001367624.2(ZNF469):c.10181C>T (p.Pro3394Leu)
|
rs1906689587
|
0.00001
|
|
NM_001367624.2(ZNF469):c.11576C>T (p.Pro3859Leu)
|
rs1056874191
|
0.00001
|
|
NM_001367624.2(ZNF469):c.1768G>A (p.Glu590Lys)
|
rs571115191
|
0.00001
|
|
NM_001367624.2(ZNF469):c.2017G>A (p.Ala673Thr)
|
rs770623245
|
0.00001
|
|
NM_001367624.2(ZNF469):c.2332G>A (p.Ala778Thr)
|
rs761152033
|
0.00001
|
|
NM_001367624.2(ZNF469):c.2661C>T (p.Ser887=)
|
rs1906033837
|
0.00001
|
|
NM_001367624.2(ZNF469):c.2953G>A (p.Gly985Ser)
|
rs886052399
|
0.00001
|
|
NM_001367624.2(ZNF469):c.3040A>G (p.Arg1014Gly)
|
rs1408770467
|
0.00001
|
|
NM_001367624.2(ZNF469):c.3264G>A (p.Arg1088=)
|
rs1339157257
|
0.00001
|
|
NM_001367624.2(ZNF469):c.4946C>T (p.Ala1649Val)
|
rs1031009469
|
0.00001
|
|
NM_001367624.2(ZNF469):c.4969A>C (p.Thr1657Pro)
|
rs996995845
|
0.00001
|
|
NM_001367624.2(ZNF469):c.601G>A (p.Ala201Thr)
|
rs765651977
|
0.00001
|
|
NM_001367624.2(ZNF469):c.6872C>T (p.Thr2291Ile)
|
rs992962962
|
0.00001
|
|
NM_001367624.2(ZNF469):c.7012G>A (p.Gly2338Ser)
|
rs772172396
|
0.00001
|
|
NM_001367624.2(ZNF469):c.7229C>G (p.Ala2410Gly)
|
rs1011558573
|
0.00001
|
|
NM_001367624.2(ZNF469):c.7318G>A (p.Gly2440Ser)
|
rs761232264
|
0.00001
|
|
NM_001367624.2(ZNF469):c.7595G>T (p.Arg2532Met)
|
rs553909579
|
0.00001
|
|
NM_001367624.2(ZNF469):c.7847G>A (p.Arg2616His)
|
rs368063668
|
0.00001
|
|
NM_001367624.2(ZNF469):c.8111A>C (p.Glu2704Ala)
|
rs930146121
|
0.00001
|
|
NM_001367624.2(ZNF469):c.8183G>A (p.Arg2728Gln)
|
rs1378526888
|
0.00001
|
|
NM_001367624.2(ZNF469):c.9088G>A (p.Gly3030Ser)
|
rs773580012
|
0.00001
|
|
NM_001367721.1(CASK):c.1390A>G (p.Thr464Ala)
|
rs886042221
|
0.00001
|
|
NM_001367721.1(CASK):c.159G>T (p.Gly53=)
|
rs761946846
|
0.00001
|
|
NM_001367721.1(CASK):c.2155+4G>A
|
rs749155089
|
0.00001
|
|
NM_001367721.1(CASK):c.2410G>A (p.Glu804Lys)
|
rs751235198
|
0.00001
|
|
NM_001367721.1(CASK):c.279T>C (p.Phe93=)
|
rs1556042440
|
0.00001
|
|
NM_001367721.1(CASK):c.997G>A (p.Glu333Lys)
|
rs1361659361
|
0.00001
|
|
NM_001369.3(DNAH5):c.10784C>T (p.Thr3595Met)
|
rs886043929
|
0.00001
|
|
NM_001369.3(DNAH5):c.10877C>T (p.Thr3626Met)
|
rs376067762
|
0.00001
|
|
NM_001369.3(DNAH5):c.11326G>A (p.Val3776Ile)
|
rs559545340
|
0.00001
|
|
NM_001369.3(DNAH5):c.11694G>T (p.Leu3898Phe)
|
rs200798994
|
0.00001
|
|
NM_001369.3(DNAH5):c.12109G>C (p.Glu4037Gln)
|
rs775060022
|
0.00001
|
|
NM_001369.3(DNAH5):c.12114A>T (p.Glu4038Asp)
|
rs749640233
|
0.00001
|
|
NM_001369.3(DNAH5):c.12124C>T (p.Arg4042Trp)
|
rs768164911
|
0.00001
|
|
NM_001369.3(DNAH5):c.12250C>T (p.Arg4084Trp)
|
rs752895938
|
0.00001
|
|
NM_001369.3(DNAH5):c.12285A>T (p.Gly4095=)
|
rs774115728
|
0.00001
|
|
NM_001369.3(DNAH5):c.12880A>G (p.Thr4294Ala)
|
rs765649176
|
0.00001
|
|
NM_001369.3(DNAH5):c.13077G>A (p.Leu4359=)
|
rs148805204
|
0.00001
|
|
NM_001369.3(DNAH5):c.1837G>A (p.Asp613Asn)
|
rs141072655
|
0.00001
|
|
NM_001369.3(DNAH5):c.1904A>G (p.His635Arg)
|
rs564653952
|
0.00001
|
|
NM_001369.3(DNAH5):c.2259+8A>G
|
rs202137813
|
0.00001
|
|
NM_001369.3(DNAH5):c.257A>G (p.Asp86Gly)
|
rs147441805
|
0.00001
|
|
NM_001369.3(DNAH5):c.3013A>T (p.Asn1005Tyr)
|
rs770975422
|
0.00001
|
|
NM_001369.3(DNAH5):c.3427C>T (p.Arg1143Cys)
|
rs775816222
|
0.00001
|
|
NM_001369.3(DNAH5):c.3642G>A (p.Met1214Ile)
|
rs1364628669
|
0.00001
|
|
NM_001369.3(DNAH5):c.3821T>C (p.Val1274Ala)
|
rs761168416
|
0.00001
|
|
NM_001369.3(DNAH5):c.4054-4T>C
|
rs200608915
|
0.00001
|
|
NM_001369.3(DNAH5):c.4269A>G (p.Ile1423Met)
|
rs779020258
|
0.00001
|
|
NM_001369.3(DNAH5):c.5199G>A (p.Ser1733=)
|
rs142806046
|
0.00001
|
|
NM_001369.3(DNAH5):c.5536C>G (p.Leu1846Val)
|
rs1311080684
|
0.00001
|
|
NM_001369.3(DNAH5):c.553G>A (p.Glu185Lys)
|
rs752339132
|
0.00001
|
|
NM_001369.3(DNAH5):c.5552T>C (p.Phe1851Ser)
|
rs368576880
|
0.00001
|
|
NM_001369.3(DNAH5):c.5563A>G (p.Ile1855Val)
|
rs1259929811
|
0.00001
|
|
NM_001369.3(DNAH5):c.6268C>T (p.Arg2090Trp)
|
rs774191944
|
0.00001
|
|
NM_001369.3(DNAH5):c.6498A>G (p.Gly2166=)
|
rs764201218
|
0.00001
|
|
NM_001369.3(DNAH5):c.6556C>T (p.Arg2186Trp)
|
rs756444637
|
0.00001
|
|
NM_001369.3(DNAH5):c.710C>T (p.Pro237Leu)
|
rs757970855
|
0.00001
|
|
NM_001369.3(DNAH5):c.7131C>T (p.Phe2377=)
|
rs562255121
|
0.00001
|
|
NM_001369.3(DNAH5):c.7515G>A (p.Glu2505=)
|
rs1032671138
|
0.00001
|
|
NM_001369.3(DNAH5):c.7573G>A (p.Gly2525Arg)
|
rs771328747
|
0.00001
|
|
NM_001369.3(DNAH5):c.8517T>A (p.Asp2839Glu)
|
rs1318152994
|
0.00001
|
|
NM_001369.3(DNAH5):c.8840C>T (p.Thr2947Ile)
|
rs756216163
|
0.00001
|
|
NM_001369.3(DNAH5):c.9213C>T (p.His3071=)
|
rs563907105
|
0.00001
|
|
NM_001369.3(DNAH5):c.9589C>T (p.Arg3197Trp)
|
rs753913853
|
0.00001
|
|
NM_001369.3(DNAH5):c.9897+9A>G
|
rs774932799
|
0.00001
|
|
NM_001369.3(DNAH5):c.9999A>G (p.Lys3333=)
|
rs1038607014
|
0.00001
|
|
NM_001369268.1(ACAN):c.11T>C (p.Leu4Ser)
|
rs202166561
|
0.00001
|
|
NM_001369268.1(ACAN):c.6945A>T (p.Ile2315=)
|
rs751061684
|
0.00001
|
|
NM_001369369.1(FOXN1):c.1554C>T (p.Thr518=)
|
rs146694795
|
0.00001
|
|
NM_001369369.1(FOXN1):c.42G>A (p.Pro14=)
|
rs553583507
|
0.00001
|
|
NM_001369369.1(FOXN1):c.589-12C>A
|
rs185748978
|
0.00001
|
|
NM_001370100.5(ZMYND11):c.1470A>G (p.Thr490=)
|
rs1437939162
|
0.00001
|
|
NM_001370259.2(MEN1):c.1099G>A (p.Val367Ile)
|
rs758404089
|
0.00001
|
|
NM_001370259.2(MEN1):c.1169C>T (p.Pro390Leu)
|
rs761102084
|
0.00001
|
|
NM_001370259.2(MEN1):c.1580G>A (p.Arg527Gln)
|
rs1085307502
|
0.00001
|
|
NM_001370259.2(MEN1):c.329G>A (p.Gly110Glu)
|
rs1389398299
|
0.00001
|
|
NM_001370259.2(MEN1):c.526G>T (p.Ala176Ser)
|
rs376872829
|
0.00001
|
|
NM_001370259.2(MEN1):c.570G>A (p.Gly190=)
|
rs547249181
|
0.00001
|
|
NM_001370259.2(MEN1):c.655-5C>G
|
rs752563214
|
0.00001
|
|
NM_001371596.2(MFSD8):c.15G>A (p.Arg5=)
|
rs762559863
|
0.00001
|
|
NM_001371596.2(MFSD8):c.288A>G (p.Leu96=)
|
rs1008821019
|
0.00001
|
|
NM_001371596.2(MFSD8):c.421T>C (p.Leu141=)
|
rs778330834
|
0.00001
|
|
NM_001371928.1(AHDC1):c.1081G>A (p.Glu361Lys)
|
rs780172155
|
0.00001
|
|
NM_001371928.1(AHDC1):c.1885G>A (p.Ala629Thr)
|
rs755324255
|
0.00001
|
|
NM_001371928.1(AHDC1):c.3829G>A (p.Gly1277Ser)
|
rs752509887
|
0.00001
|
|
NM_001371928.1(AHDC1):c.4031T>C (p.Ile1344Thr)
|
rs1467982801
|
0.00001
|
|
NM_001372.4(DNAH9):c.1252T>G (p.Tyr418Asp)
|
rs529230683
|
0.00001
|
|
NM_001372044.2(SHANK3):c.4211C>T (p.Ser1404Leu)
|
rs1464985103
|
0.00001
|
|
NM_001372051.1(CASP8):c.1038T>C (p.Pro346=)
|
rs768360449
|
0.00001
|
|
NM_001374353.1(GLI2):c.2208G>A (p.Thr736=)
|
rs372206751
|
0.00001
|
|
NM_001374353.1(GLI2):c.765G>A (p.Ser255=)
|
rs200901345
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.1812T>C (p.Ser604=)
|
rs754573787
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.2209+9T>C
|
rs377124910
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.2932-9C>T
|
rs776616431
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.549T>C (p.Asp183=)
|
rs201160977
|
0.00001
|
|
NM_001374385.1(ATP8B1):c.941-20A>G
|
rs1366870956
|
0.00001
|
|
NM_001374736.1(DST):c.17894A>C (p.Glu5965Ala)
|
rs753007435
|
0.00001
|
|
NM_001374736.1(DST):c.1872T>G (p.Ser624=)
|
rs994026153
|
0.00001
|
|
NM_001374736.1(DST):c.19415A>G (p.Lys6472Arg)
|
rs904996327
|
0.00001
|
|
NM_001374828.1(ARID1B):c.1220G>C (p.Gly407Ala)
|
rs1057522183
|
0.00001
|
|
NM_001374828.1(ARID1B):c.1410C>T (p.Ala470=)
|
rs1401866270
|
0.00001
|
|
NM_001374828.1(ARID1B):c.1439C>T (p.Ser480Leu)
|
rs1235258455
|
0.00001
|
|
NM_001374828.1(ARID1B):c.247A>G (p.Asn83Asp)
|
rs797045266
|
0.00001
|
|
NM_001374828.1(ARID1B):c.283G>A (p.Gly95Ser)
|
rs797045273
|
0.00001
|
|
NM_001374828.1(ARID1B):c.4611G>A (p.Pro1537=)
|
rs749608995
|
0.00001
|
|
NM_001374828.1(ARID1B):c.5031C>T (p.Pro1677=)
|
rs770164775
|
0.00001
|
|
NM_001374828.1(ARID1B):c.6258C>G (p.Ala2086=)
|
rs781082506
|
0.00001
|
|
NM_001374828.1(ARID1B):c.961G>T (p.Ala321Ser)
|
rs1268089519
|
0.00001
|
|
NM_001375524.1(TRRAP):c.4079C>T (p.Pro1360Leu)
|
rs139426093
|
0.00001
|
|
NM_001375808.2(LPIN2):c.1404C>T (p.Asp468=)
|
rs376147435
|
0.00001
|
|
NM_001375808.2(LPIN2):c.54C>A (p.Leu18=)
|
rs753729438
|
0.00001
|
|
NM_001375808.2(LPIN2):c.590+8T>G
|
rs760846327
|
0.00001
|
|
NM_001375808.2(LPIN2):c.756G>A (p.Ala252=)
|
rs570485374
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.11721C>A (p.His3907Gln)
|
rs774840535
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.12514-5A>G
|
rs774476953
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.12589G>A (p.Ala4197Thr)
|
rs879254018
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.12705G>A (p.Pro4235=)
|
rs199792795
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.13719C>T (p.Asn4573=)
|
rs886050377
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.1628C>T (p.Thr543Met)
|
rs780247153
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.249G>C (p.Thr83=)
|
rs1024563256
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.2719-15T>C
|
rs748772899
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.366T>C (p.Thr122=)
|
rs527943422
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.390C>T (p.Pro130=)
|
rs2273439
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.4542+6G>A
|
rs375822798
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.4959C>T (p.His1653=)
|
rs773425996
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.5427A>G (p.Glu1809=)
|
rs2048183675
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.579C>T (p.Leu193=)
|
rs1184080545
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.7403A>T (p.Asn2468Ile)
|
rs797045532
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.7539G>C (p.Glu2513Asp)
|
rs376901405
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.9210G>A (p.Pro3070=)
|
rs201817995
|
0.00001
|
|
NM_001376013.1(EPB41):c.1331G>A (p.Arg444His)
|
rs374316682
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.1000-7A>G
|
rs745325616
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.10848T>G (p.Ser3616=)
|
rs199958495
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.4611+14C>T
|
rs766124250
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.5472T>C (p.Leu1824=)
|
rs886047564
|
0.00001
|
|
NM_001377.3(DYNC2H1):c.7782A>G (p.Pro2594=)
|
rs886047566
|
0.00001
|
|
NM_001377265.1(MAPT):c.2173+9G>C
|
rs979650971
|
0.00001
|
|
NM_001377265.1(MAPT):c.220+2538C>G
|
rs368845248
|
0.00001
|
|
NM_001377265.1(MAPT):c.2364G>A (p.Ser788=)
|
rs377720312
|
0.00001
|
|
NM_001378120.1(MBD5):c.1111C>G (p.Gln371Glu)
|
rs536900412
|
0.00001
|
|
NM_001378120.1(MBD5):c.1537G>A (p.Asp513Asn)
|
rs1465733702
|
0.00001
|
|
NM_001378120.1(MBD5):c.1663C>A (p.Pro555Thr)
|
rs1422887607
|
0.00001
|
|
NM_001378120.1(MBD5):c.19T>A (p.Cys7Ser)
|
rs766104877
|
0.00001
|
|
NM_001378120.1(MBD5):c.2011A>G (p.Arg671Gly)
|
rs1376331579
|
0.00001
|
|
NM_001378120.1(MBD5):c.205A>G (p.Ile69Val)
|
rs749163361
|
0.00001
|
|
NM_001378120.1(MBD5):c.2688C>T (p.His896=)
|
rs1681222021
|
0.00001
|
|
NM_001378120.1(MBD5):c.415C>T (p.Pro139Ser)
|
rs1472737578
|
0.00001
|
|
NM_001378120.1(MBD5):c.4466G>A (p.Gly1489Glu)
|
rs773267074
|
0.00001
|
|
NM_001378120.1(MBD5):c.4731C>T (p.Ser1577=)
|
rs777735514
|
0.00001
|
|
NM_001378183.1(PIEZO2):c.470C>T (p.Pro157Leu)
|
rs1025310776
|
0.00001
|
|
NM_001378414.1(HDAC4):c.339+10G>A
|
rs199918439
|
0.00001
|
|
NM_001378452.1(ITPR1):c.1152-6T>C
|
rs752886993
|
0.00001
|
|
NM_001378452.1(ITPR1):c.140A>G (p.Asn47Ser)
|
rs561470737
|
0.00001
|
|
NM_001378452.1(ITPR1):c.2456+6C>T
|
rs779086270
|
0.00001
|
|
NM_001378452.1(ITPR1):c.4658-3C>T
|
rs779986666
|
0.00001
|
|
NM_001378452.1(ITPR1):c.525C>T (p.Ser175=)
|
rs539657017
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10079-10G>A
|
rs778996015
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10137A>G (p.Gln3379=)
|
rs756623131
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10214-5C>T
|
rs751591632
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly)
|
rs746702722
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10385-9C>T
|
rs568809052
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10467C>T (p.His3489=)
|
rs371631738
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10947T>C (p.Ser3649=)
|
rs373024720
|
0.00001
|
|
NM_001378454.1(ALMS1):c.11104C>A (p.Arg3702=)
|
rs747747269
|
0.00001
|
|
NM_001378454.1(ALMS1):c.11669-12C>T
|
rs774970704
|
0.00001
|
|
NM_001378454.1(ALMS1):c.11669-14A>G
|
rs768036112
|
0.00001
|
|
NM_001378454.1(ALMS1):c.11873-11G>A
|
rs571456553
|
0.00001
|
|
NM_001378454.1(ALMS1):c.12299-6G>A
|
rs771317399
|
0.00001
|
|
NM_001378454.1(ALMS1):c.12463-14C>G
|
rs766656843
|
0.00001
|
|
NM_001378454.1(ALMS1):c.1339-12G>T
|
rs1260375872
|
0.00001
|
|
NM_001378454.1(ALMS1):c.1865A>G (p.Tyr622Cys)
|
rs193922693
|
0.00001
|
|
NM_001378454.1(ALMS1):c.2136C>T (p.Leu712=)
|
rs747504060
|
0.00001
|
|
NM_001378454.1(ALMS1):c.2184A>G (p.Gln728=)
|
rs572605877
|
0.00001
|
|
NM_001378454.1(ALMS1):c.2413A>G (p.Thr805Ala)
|
rs772260271
|
0.00001
|
|
NM_001378454.1(ALMS1):c.2466A>G (p.Gln822=)
|
rs755661115
|
0.00001
|
|
NM_001378454.1(ALMS1):c.3246A>G (p.Pro1082=)
|
rs532389598
|
0.00001
|
|
NM_001378454.1(ALMS1):c.325-6T>C
|
rs760582213
|
0.00001
|
|
NM_001378454.1(ALMS1):c.4995C>T (p.Tyr1665=)
|
rs762003836
|
0.00001
|
|
NM_001378454.1(ALMS1):c.646+8C>G
|
rs760012033
|
0.00001
|
|
NM_001378454.1(ALMS1):c.6827G>A (p.Arg2276Gln)
|
rs200979896
|
0.00001
|
|
NM_001378454.1(ALMS1):c.7005T>C (p.Asp2335=)
|
rs781592497
|
0.00001
|
|
NM_001378454.1(ALMS1):c.8904A>G (p.Gln2968=)
|
rs777796888
|
0.00001
|
|
NM_001378454.1(ALMS1):c.9384A>G (p.Val3128=)
|
rs752453102
|
0.00001
|
|
NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly)
|
rs563393715
|
0.00001
|
|
NM_001378454.1(ALMS1):c.9782-13T>G
|
rs530508947
|
0.00001
|
|
NM_001378609.3(OTOGL):c.169-7T>A
|
rs745520285
|
0.00001
|
|
NM_001378609.3(OTOGL):c.3277A>C (p.Asn1093His)
|
rs867315415
|
0.00001
|
|
NM_001378609.3(OTOGL):c.4209A>T (p.Gly1403=)
|
rs747929635
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.4675-14T>A
|
rs766203266
|
0.00001
|
|
NM_001378615.1(CC2D2A):c.541-5G>A
|
rs369022150
|
0.00001
|
|
NM_001378778.1(MPDZ):c.534-3T>C
|
rs565080760
|
0.00001
|
|
NM_001378969.1(KCND3):c.1492T>C (p.Leu498=)
|
rs762528364
|
0.00001
|
|
NM_001378969.1(KCND3):c.186G>A (p.Pro62=)
|
rs1411627342
|
0.00001
|
|
NM_001379081.2(FREM1):c.4801C>A (p.Gln1601Lys)
|
rs550726565
|
0.00001
|
|
NM_001379110.1(SLC9A6):c.1380C>T (p.Ser460=)
|
rs782177396
|
0.00001
|
|
NM_001379200.1(TBX1):c.407G>A (p.Gly136Asp)
|
rs761127806
|
0.00001
|
|
NM_001379270.1(CNGA1):c.438-6C>T
|
rs794727950
|
0.00001
|
|
NM_001379500.1(COL18A1):c.107-12491C>T
|
rs749001958
|
0.00001
|
|
NM_001379500.1(COL18A1):c.3380G>A (p.Arg1127His)
|
rs370102608
|
0.00001
|
|
NM_001379610.1(SPINK1):c.38C>T (p.Ala13Val)
|
rs770387107
|
0.00001
|
|
NM_001382.4(DPAGT1):c.1037A>G (p.His346Arg)
|
rs1301940016
|
0.00001
|
|
NM_001384140.1(PCDH15):c.1836C>A (p.Ser612Arg)
|
rs200226791
|
0.00001
|
|
NM_001384140.1(PCDH15):c.3374-7C>T
|
rs377480411
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.6516C>T (p.Ala2172=)
|
rs886042223
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.7760A>G (p.Glu2587Gly)
|
rs766541647
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.9310+6A>T
|
rs1347208910
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.959T>C (p.Ile320Thr)
|
rs886060584
|
0.00001
|
|
NM_001386140.1(MTTP):c.1877G>A (p.Arg626His)
|
rs568076672
|
0.00001
|
|
NM_001386393.1(PANK2):c.-10G>A
|
rs771710781
|
0.00001
|
|
NM_001386393.1(PANK2):c.258C>G (p.Val86=)
|
rs746054643
|
0.00001
|
|
NM_001386393.1(PANK2):c.298+10C>T
|
rs755815669
|
0.00001
|
|
NM_001386393.1(PANK2):c.54G>C (p.Arg18=)
|
rs930563925
|
0.00001
|
|
NM_001386795.1(DTNA):c.1695C>T (p.Ser565=)
|
rs774966330
|
0.00001
|
|
NM_001386795.1(DTNA):c.2224G>T (p.Val742Phe)
|
rs533568822
|
0.00001
|
|
NM_001386795.1(DTNA):c.476G>A (p.Ser159Asn)
|
rs147115867
|
0.00001
|
|
NM_001386795.1(DTNA):c.68-5A>G
|
rs1243110074
|
0.00001
|
|
NM_001387283.1(SMARCA4):c.4202C>T (p.Ala1401Val)
|
rs771008873
|
0.00001
|
|
NM_001387283.1(SMARCA4):c.4216C>T (p.Arg1406Cys)
|
rs587778686
|
0.00001
|
|
NM_001394062.1(MACF1):c.12857C>T (p.Ala4286Val)
|
rs573837366
|
0.00001
|
|
NM_001394062.1(MACF1):c.21227C>T (p.Pro7076Leu)
|
rs368764004
|
0.00001
|
|
NM_001395413.1(POR):c.1152C>T (p.Asn384=)
|
rs1554558784
|
0.00001
|
|
NM_001395413.1(POR):c.1706C>T (p.Ser569Leu)
|
rs370645073
|
0.00001
|
|
NM_001395413.1(POR):c.821+15C>T
|
rs540000393
|
0.00001
|
|
NM_001399.5(EDA):c.249C>G (p.Thr83=)
|
rs769141538
|
0.00001
|
|
NM_001429.4(EP300):c.1453C>A (p.Gln485Lys)
|
rs772407988
|
0.00001
|
|
NM_001429.4(EP300):c.5869C>T (p.Pro1957Ser)
|
rs1301322622
|
0.00001
|
|
NM_001429.4(EP300):c.6526C>T (p.Pro2176Ser)
|
rs779543207
|
0.00001
|
|
NM_001457.4(FLNB):c.1148-8T>G
|
rs376416099
|
0.00001
|
|
NM_001457.4(FLNB):c.1384C>T (p.Leu462=)
|
rs139725835
|
0.00001
|
|
NM_001457.4(FLNB):c.1808C>T (p.Ser603Leu)
|
rs764538938
|
0.00001
|
|
NM_001457.4(FLNB):c.2136G>A (p.Lys712=)
|
rs777288340
|
0.00001
|
|
NM_001457.4(FLNB):c.2187C>T (p.His729=)
|
rs751586969
|
0.00001
|
|
NM_001457.4(FLNB):c.2297C>T (p.Thr766Met)
|
rs758045039
|
0.00001
|
|
NM_001457.4(FLNB):c.2356C>T (p.Arg786Trp)
|
rs201452322
|
0.00001
|
|
NM_001457.4(FLNB):c.2643C>T (p.Asn881=)
|
rs774413686
|
0.00001
|
|
NM_001457.4(FLNB):c.3144C>T (p.Pro1048=)
|
rs376519914
|
0.00001
|
|
NM_001457.4(FLNB):c.3176C>T (p.Ala1059Val)
|
rs570950728
|
0.00001
|
|
NM_001457.4(FLNB):c.3209C>T (p.Thr1070Ile)
|
rs201533113
|
0.00001
|
|
NM_001457.4(FLNB):c.3269A>G (p.Asn1090Ser)
|
rs755713308
|
0.00001
|
|
NM_001457.4(FLNB):c.4724C>T (p.Thr1575Met)
|
rs776237096
|
0.00001
|
|
NM_001457.4(FLNB):c.4766T>A (p.Met1589Lys)
|
rs780225340
|
0.00001
|
|
NM_001457.4(FLNB):c.4774G>A (p.Val1592Ile)
|
rs754360853
|
0.00001
|
|
NM_001457.4(FLNB):c.5043G>A (p.Pro1681=)
|
rs886042162
|
0.00001
|
|
NM_001457.4(FLNB):c.5258T>G (p.Phe1753Cys)
|
rs761508385
|
0.00001
|
|
NM_001457.4(FLNB):c.5729-4C>T
|
rs116142791
|
0.00001
|
|
NM_001457.4(FLNB):c.5816C>T (p.Thr1939Met)
|
rs372372509
|
0.00001
|
|
NM_001457.4(FLNB):c.5916C>T (p.Gly1972=)
|
rs112942586
|
0.00001
|
|
NM_001457.4(FLNB):c.6029G>A (p.Arg2010His)
|
rs188216614
|
0.00001
|
|
NM_001457.4(FLNB):c.6211G>A (p.Val2071Ile)
|
rs201831615
|
0.00001
|
|
NM_001457.4(FLNB):c.6226G>A (p.Ala2076Thr)
|
rs141559684
|
0.00001
|
|
NM_001457.4(FLNB):c.6237C>T (p.His2079=)
|
rs767109451
|
0.00001
|
|
NM_001457.4(FLNB):c.6310C>T (p.Arg2104Trp)
|
rs751795794
|
0.00001
|
|
NM_001457.4(FLNB):c.6590G>A (p.Arg2197Gln)
|
rs749488943
|
0.00001
|
|
NM_001457.4(FLNB):c.6794A>G (p.Lys2265Arg)
|
rs757365085
|
0.00001
|
|
NM_001457.4(FLNB):c.7176G>A (p.Thr2392=)
|
rs770144367
|
0.00001
|
|
NM_001457.4(FLNB):c.852C>T (p.Ala284=)
|
rs765017696
|
0.00001
|
|
NM_001457.4(FLNB):c.9A>G (p.Val3=)
|
rs199846967
|
0.00001
|
|
NM_001458.5(FLNC):c.1169A>G (p.Asn390Ser)
|
rs188905854
|
0.00001
|
|
NM_001458.5(FLNC):c.1766C>T (p.Ser589Leu)
|
rs780098760
|
0.00001
|
|
NM_001458.5(FLNC):c.2023C>T (p.Pro675Ser)
|
rs1227192105
|
0.00001
|
|
NM_001458.5(FLNC):c.2287C>T (p.His763Tyr)
|
rs1380984220
|
0.00001
|
|
NM_001458.5(FLNC):c.2389+4C>T
|
rs1057523921
|
0.00001
|
|
NM_001458.5(FLNC):c.2424C>T (p.Gly808=)
|
rs764991202
|
0.00001
|
|
NM_001458.5(FLNC):c.3054C>T (p.Gly1018=)
|
rs769624093
|
0.00001
|
|
NM_001458.5(FLNC):c.3268G>T (p.Ala1090Ser)
|
rs760158891
|
0.00001
|
|
NM_001458.5(FLNC):c.3476G>A (p.Arg1159Gln)
|
rs141199483
|
0.00001
|
|
NM_001458.5(FLNC):c.4109G>A (p.Arg1370Gln)
|
rs761881020
|
0.00001
|
|
NM_001458.5(FLNC):c.4172C>T (p.Ser1391Leu)
|
rs755832014
|
0.00001
|
|
NM_001458.5(FLNC):c.470G>A (p.Arg157His)
|
rs752919962
|
0.00001
|
|
NM_001458.5(FLNC):c.5272C>T (p.Arg1758Trp)
|
rs369187211
|
0.00001
|
|
NM_001458.5(FLNC):c.5281G>A (p.Ala1761Thr)
|
rs376023896
|
0.00001
|
|
NM_001458.5(FLNC):c.5458G>A (p.Gly1820Ser)
|
rs763930207
|
0.00001
|
|
NM_001458.5(FLNC):c.5544C>T (p.Ser1848=)
|
rs1350503435
|
0.00001
|
|
NM_001458.5(FLNC):c.5670G>A (p.Gly1890=)
|
rs369881758
|
0.00001
|
|
NM_001458.5(FLNC):c.5935G>A (p.Ala1979Thr)
|
rs766127245
|
0.00001
|
|
NM_001458.5(FLNC):c.5955G>A (p.Ser1985=)
|
rs777895128
|
0.00001
|
|
NM_001458.5(FLNC):c.6441C>T (p.Ile2147=)
|
rs762017885
|
0.00001
|
|
NM_001458.5(FLNC):c.6572C>T (p.Thr2191Met)
|
rs768329311
|
0.00001
|
|
NM_001458.5(FLNC):c.6608G>A (p.Arg2203His)
|
rs1063262
|
0.00001
|
|
NM_001458.5(FLNC):c.6878G>A (p.Arg2293His)
|
rs1034483511
|
0.00001
|
|
NM_001458.5(FLNC):c.7328G>A (p.Arg2443Gln)
|
rs370293647
|
0.00001
|
|
NM_001458.5(FLNC):c.8080G>A (p.Val2694Ile)
|
rs765388755
|
0.00001
|
|
NM_001458.5(FLNC):c.851-5C>T
|
rs758216356
|
0.00001
|
|
NM_001551.3(IGBP1):c.27G>T (p.Leu9=)
|
rs2085078922
|
0.00001
|
|
NM_001556.3(IKBKB):c.1933C>T (p.Arg645Trp)
|
rs753922163
|
0.00001
|
|
NM_001558.4(IL10RA):c.1323G>A (p.Val441=)
|
rs746663189
|
0.00001
|
|
NM_001567.4(INPPL1):c.247-6C>T
|
rs199604909
|
0.00001
|
|
NM_001605.3(AARS1):c.2521-5T>G
|
rs1555539335
|
0.00001
|
|
NM_001605.3(AARS1):c.904G>A (p.Ala302Thr)
|
rs576221121
|
0.00001
|
|
NM_001609.4(ACADSB):c.219G>A (p.Gln73=)
|
rs756256851
|
0.00001
|
|
NM_001609.4(ACADSB):c.681+14C>T
|
rs748185849
|
0.00001
|
|
NM_001613.4(ACTA2):c.808+14G>A
|
rs774120023
|
0.00001
|
|
NM_001614.5(ACTG1):c.123+8G>A
|
rs536476533
|
0.00001
|
|
NM_001625.4(AK2):c.202A>G (p.Met68Val)
|
rs548856916
|
0.00001
|
|
NM_001692.4(ATP6V1B1):c.393G>A (p.Lys131=)
|
rs1332086842
|
0.00001
|
|
NM_001698.3(AUH):c.894+9C>A
|
rs1388023086
|
0.00001
|
|
NM_001715.3(BLK):c.369-10C>T
|
rs750408108
|
0.00001
|
|
NM_001754.5(RUNX1):c.111C>T (p.Ser37=)
|
rs1555899908
|
0.00001
|
|
NM_001754.5(RUNX1):c.1396A>T (p.Met466Leu)
|
rs762213305
|
0.00001
|
|
NM_001754.5(RUNX1):c.714C>T (p.Val238=)
|
rs776056802
|
0.00001
|
|
NM_001754.5(RUNX1):c.981G>C (p.Leu327=)
|
rs376269814
|
0.00001
|
|
NM_001770.6(CD19):c.1580-9C>G
|
rs1292103079
|
0.00001
|
|
NM_001844.5(COL2A1):c.1057G>A (p.Ala353Thr)
|
rs781554389
|
0.00001
|
|
NM_001844.5(COL2A1):c.1122+4C>T
|
rs1041494793
|
0.00001
|
|
NM_001844.5(COL2A1):c.14G>C (p.Gly5Ala)
|
rs557340983
|
0.00001
|
|
NM_001844.5(COL2A1):c.1505C>T (p.Pro502Leu)
|
rs904660062
|
0.00001
|
|
NM_001844.5(COL2A1):c.151C>T (p.Pro51Ser)
|
rs945234297
|
0.00001
|
|
NM_001844.5(COL2A1):c.1586C>A (p.Ala529Asp)
|
rs370407502
|
0.00001
|
|
NM_001844.5(COL2A1):c.1938T>C (p.Pro646=)
|
rs368641858
|
0.00001
|
|
NM_001844.5(COL2A1):c.2083G>A (p.Val695Met)
|
rs751036439
|
0.00001
|
|
NM_001844.5(COL2A1):c.2147A>G (p.Gln716Arg)
|
rs1252045461
|
0.00001
|
|
NM_001844.5(COL2A1):c.2281G>A (p.Ala761Thr)
|
rs751436440
|
0.00001
|
|
NM_001844.5(COL2A1):c.2286G>A (p.Gly762=)
|
rs371835359
|
0.00001
|
|
NM_001844.5(COL2A1):c.2301+5G>A
|
rs1335619157
|
0.00001
|
|
NM_001844.5(COL2A1):c.2309T>G (p.Val770Gly)
|
rs767686686
|
0.00001
|
|
NM_001844.5(COL2A1):c.2410-11C>T
|
rs886049447
|
0.00001
|
|
NM_001844.5(COL2A1):c.2602C>T (p.Pro868Ser)
|
rs770043048
|
0.00001
|
|
NM_001844.5(COL2A1):c.2805C>T (p.Ser935=)
|
rs948633441
|
0.00001
|
|
NM_001844.5(COL2A1):c.2909C>T (p.Pro970Leu)
|
rs371268468
|
0.00001
|
|
NM_001844.5(COL2A1):c.2947G>A (p.Val983Ile)
|
rs772889503
|
0.00001
|
|
NM_001844.5(COL2A1):c.3083C>T (p.Thr1028Met)
|
rs770907704
|
0.00001
|
|
NM_001844.5(COL2A1):c.3107G>A (p.Arg1036Gln)
|
rs201956851
|
0.00001
|
|
NM_001844.5(COL2A1):c.3119C>T (p.Pro1040Leu)
|
rs978657987
|
0.00001
|
|
NM_001844.5(COL2A1):c.3215C>T (p.Pro1072Leu)
|
rs1489240592
|
0.00001
|
|
NM_001844.5(COL2A1):c.3241C>T (p.Pro1081Ser)
|
rs753709490
|
0.00001
|
|
NM_001844.5(COL2A1):c.326C>G (p.Pro109Arg)
|
rs140120720
|
0.00001
|
|
NM_001844.5(COL2A1):c.3398G>A (p.Arg1133His)
|
rs776292672
|
0.00001
|
|
NM_001844.5(COL2A1):c.3817G>A (p.Glu1273Lys)
|
rs778838205
|
0.00001
|
|
NM_001844.5(COL2A1):c.388G>C (p.Glu130Gln)
|
rs375448469
|
0.00001
|
|
NM_001844.5(COL2A1):c.3950T>C (p.Met1317Thr)
|
rs1555164561
|
0.00001
|
|
NM_001844.5(COL2A1):c.4020G>C (p.Lys1340Asn)
|
rs763777663
|
0.00001
|
|
NM_001844.5(COL2A1):c.4034A>C (p.Lys1345Thr)
|
rs775279845
|
0.00001
|
|
NM_001844.5(COL2A1):c.4185C>T (p.Asn1395=)
|
rs1284508374
|
0.00001
|
|
NM_001844.5(COL2A1):c.4204G>A (p.Glu1402Lys)
|
rs759583931
|
0.00001
|
|
NM_001844.5(COL2A1):c.4326C>T (p.Thr1442=)
|
rs201223454
|
0.00001
|
|
NM_001844.5(COL2A1):c.436C>T (p.Pro146Ser)
|
rs1181216326
|
0.00001
|
|
NM_001844.5(COL2A1):c.711T>A (p.Gly237=)
|
rs764487245
|
0.00001
|
|
NM_001844.5(COL2A1):c.778C>T (p.Pro260Ser)
|
rs1470645150
|
0.00001
|
|
NM_001845.6(COL4A1):c.1990+7T>C
|
rs773725275
|
0.00001
|
|
NM_001845.6(COL4A1):c.3505+4del
|
rs749942977
|
0.00001
|
|
NM_001845.6(COL4A1):c.4271C>T (p.Pro1424Leu)
|
rs760889798
|
0.00001
|
|
NM_001845.6(COL4A1):c.4796C>T (p.Ala1599Val)
|
rs766472965
|
0.00001
|
|
NM_001845.6(COL4A1):c.553-10T>C
|
rs370673476
|
0.00001
|
|
NM_001846.4(COL4A2):c.1264G>A (p.Gly422Arg)
|
rs779091629
|
0.00001
|
|
NM_001846.4(COL4A2):c.403G>A (p.Asp135Asn)
|
rs369865437
|
0.00001
|
|
NM_001846.4(COL4A2):c.4906G>A (p.Gly1636Ser)
|
rs753412782
|
0.00001
|
|
NM_001848.3(COL6A1):c.1782C>T (p.Cys594=)
|
rs745847824
|
0.00001
|
|
NM_001848.3(COL6A1):c.2643G>A (p.Thr881=)
|
rs372725624
|
0.00001
|
|
NM_001848.3(COL6A1):c.2670G>A (p.Ser890=)
|
rs527265374
|
0.00001
|
|
NM_001849.4(COL6A2):c.2031C>T (p.Asp677=)
|
rs759646708
|
0.00001
|
|
NM_001849.4(COL6A2):c.2241G>A (p.Leu747=)
|
rs398123649
|
0.00001
|
|
NM_001849.4(COL6A2):c.2397T>C (p.Asp799=)
|
rs754203636
|
0.00001
|
|
NM_001849.4(COL6A2):c.2483C>T (p.Thr828Met)
|
rs755782924
|
0.00001
|
|
NM_001849.4(COL6A2):c.459C>T (p.Thr153=)
|
rs764014106
|
0.00001
|
|
NM_001851.6(COL9A1):c.1926+6T>G
|
rs372289111
|
0.00001
|
|
NM_001851.6(COL9A1):c.2562T>C (p.Pro854=)
|
rs1135057
|
0.00001
|
|
NM_001851.6(COL9A1):c.2582-3C>T
|
rs760704462
|
0.00001
|
|
NM_001851.6(COL9A1):c.88+7G>C
|
rs755501266
|
0.00001
|
|
NM_001852.4(COL9A2):c.846+10C>T
|
rs1045951380
|
0.00001
|
|
NM_001853.4(COL9A3):c.1009-12C>A
|
rs752646714
|
0.00001
|
|
NM_001853.4(COL9A3):c.1054-12C>T
|
rs1462378174
|
0.00001
|
|
NM_001853.4(COL9A3):c.1263C>T (p.Gly421=)
|
rs776017580
|
0.00001
|
|
NM_001853.4(COL9A3):c.1881C>T (p.Pro627=)
|
rs372602506
|
0.00001
|
|
NM_001853.4(COL9A3):c.519+6C>T
|
rs1273555684
|
0.00001
|
|
NM_001853.4(COL9A3):c.72G>A (p.Gly24=)
|
rs777240987
|
0.00001
|
|
NM_001854.4(COL11A1):c.1052A>G (p.Gln351Arg)
|
rs751155680
|
0.00001
|
|
NM_001854.4(COL11A1):c.1054A>T (p.Arg352Trp)
|
rs1402379236
|
0.00001
|
|
NM_001854.4(COL11A1):c.1099G>A (p.Gly367Ser)
|
rs748391176
|
0.00001
|
|
NM_001854.4(COL11A1):c.1100G>A (p.Gly367Asp)
|
rs1402186540
|
0.00001
|
|
NM_001854.4(COL11A1):c.1211G>A (p.Gly404Asp)
|
rs748335883
|
0.00001
|
|
NM_001854.4(COL11A1):c.1414-9T>A
|
rs794727062
|
0.00001
|
|
NM_001854.4(COL11A1):c.1706C>T (p.Pro569Leu)
|
rs760689529
|
0.00001
|
|
NM_001854.4(COL11A1):c.1708C>T (p.Pro570Ser)
|
rs1194226000
|
0.00001
|
|
NM_001854.4(COL11A1):c.1744C>T (p.Pro582Ser)
|
rs746192125
|
0.00001
|
|
NM_001854.4(COL11A1):c.1776A>T (p.Gly592=)
|
rs1211057639
|
0.00001
|
|
NM_001854.4(COL11A1):c.191G>A (p.Arg64Lys)
|
rs1272896075
|
0.00001
|
|
NM_001854.4(COL11A1):c.2115A>G (p.Gln705=)
|
rs544663655
|
0.00001
|
|
NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser)
|
rs56230601
|
0.00001
|
|
NM_001854.4(COL11A1):c.2187T>A (p.Asp729Glu)
|
rs754657948
|
0.00001
|
|
NM_001854.4(COL11A1):c.2231A>G (p.Lys744Arg)
|
rs775660447
|
0.00001
|
|
NM_001854.4(COL11A1):c.2610+9T>C
|
rs754222130
|
0.00001
|
|
NM_001854.4(COL11A1):c.2645G>A (p.Arg882His)
|
rs779869745
|
0.00001
|
|
NM_001854.4(COL11A1):c.2804C>A (p.Pro935His)
|
rs368422725
|
0.00001
|
|
NM_001854.4(COL11A1):c.3068C>A (p.Ala1023Glu)
|
rs1040168773
|
0.00001
|
|
NM_001854.4(COL11A1):c.3076C>T (p.Arg1026Cys)
|
rs377320274
|
0.00001
|
|
NM_001854.4(COL11A1):c.3137G>A (p.Gly1046Glu)
|
rs773157346
|
0.00001
|
|
NM_001854.4(COL11A1):c.3401C>T (p.Pro1134Leu)
|
rs764478054
|
0.00001
|
|
NM_001854.4(COL11A1):c.3496G>T (p.Gly1166Cys)
|
rs777456846
|
0.00001
|
|
NM_001854.4(COL11A1):c.3650C>T (p.Pro1217Leu)
|
rs753649097
|
0.00001
|
|
NM_001854.4(COL11A1):c.3831A>C (p.Glu1277Asp)
|
rs780739712
|
0.00001
|
|
NM_001854.4(COL11A1):c.3982C>A (p.Gln1328Lys)
|
rs750014974
|
0.00001
|
|
NM_001854.4(COL11A1):c.4581T>A (p.Ser1527Arg)
|
rs146997967
|
0.00001
|
|
NM_001854.4(COL11A1):c.4609-8C>A
|
rs777390779
|
0.00001
|
|
NM_001854.4(COL11A1):c.4615C>T (p.Pro1539Ser)
|
rs1374575593
|
0.00001
|
|
NM_001854.4(COL11A1):c.4696G>T (p.Asp1566Tyr)
|
rs780611200
|
0.00001
|
|
NM_001854.4(COL11A1):c.4711G>T (p.Asp1571Tyr)
|
rs1277867710
|
0.00001
|
|
NM_001854.4(COL11A1):c.511G>A (p.Val171Met)
|
rs751182532
|
0.00001
|
|
NM_001854.4(COL11A1):c.5372A>G (p.Gln1791Arg)
|
rs1351190778
|
0.00001
|
|
NM_001854.4(COL11A1):c.862C>A (p.Pro288Thr)
|
rs748315186
|
0.00001
|
|
NM_001875.5(CPS1):c.2454A>G (p.Pro818=)
|
rs765712117
|
0.00001
|
|
NM_001875.5(CPS1):c.3174C>T (p.Gly1058=)
|
rs369030433
|
0.00001
|
|
NM_001875.5(CPS1):c.3286T>C (p.Leu1096=)
|
rs749825961
|
0.00001
|
|
NM_001875.5(CPS1):c.3303G>A (p.Val1101=)
|
rs774531676
|
0.00001
|
|
NM_001875.5(CPS1):c.3558+7G>A
|
rs764456030
|
0.00001
|
|
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln)
|
rs778117194
|
0.00001
|
|
NM_001875.5(CPS1):c.390T>A (p.Gly130=)
|
rs577598098
|
0.00001
|
|
NM_001875.5(CPS1):c.4112G>A (p.Arg1371Gln)
|
rs765106604
|
0.00001
|
|
NM_001875.5(CPS1):c.49G>A (p.Gly17Ser)
|
rs868808195
|
0.00001
|
|
NM_001876.4(CPT1A):c.1500G>A (p.Glu500=)
|
rs760474415
|
0.00001
|
|
NM_001887.4(CRYBB1):c.384G>A (p.Ser128=)
|
rs370514627
|
0.00001
|
|
NM_001903.5(CTNNA1):c.1593A>G (p.Gln531=)
|
rs200279871
|
0.00001
|
|
NM_001903.5(CTNNA1):c.1746A>G (p.Thr582=)
|
rs1181337385
|
0.00001
|
|
NM_001903.5(CTNNA1):c.1747+5G>A
|
rs377182398
|
0.00001
|
|
NM_001903.5(CTNNA1):c.2400G>A (p.Val800=)
|
rs1370483870
|
0.00001
|
|
NM_001903.5(CTNNA1):c.859-7T>G
|
rs374326029
|
0.00001
|
|
NM_001904.4(CTNNB1):c.245T>C (p.Ile82Thr)
|
rs748781625
|
0.00001
|
|
NM_001909.5(CTSD):c.972+10G>A
|
rs531682785
|
0.00001
|
|
NM_001918.5(DBT):c.198G>A (p.Gln66=)
|
rs201714436
|
0.00001
|
|
NM_001927.4(DES):c.-7C>G
|
rs764966574
|
0.00001
|
|
NM_001927.4(DES):c.218G>A (p.Arg73Gln)
|
rs752518966
|
0.00001
|
|
NM_001927.4(DES):c.640-4C>G
|
rs375680081
|
0.00001
|
|
NM_001927.4(DES):c.822C>T (p.Leu274=)
|
rs763599850
|
0.00001
|
|
NM_001931.5(DLAT):c.423G>A (p.Glu141=)
|
rs781936816
|
0.00001
|
|
NM_001939.3(DRP2):c.844T>C (p.Phe282Leu)
|
rs776262419
|
0.00001
|
|
NM_001943.5(DSG2):c.1479C>T (p.Asn493=)
|
rs778100657
|
0.00001
|
|
NM_001943.5(DSG2):c.1525G>A (p.Asp509Asn)
|
rs753406968
|
0.00001
|
|
NM_001943.5(DSG2):c.1758T>C (p.Leu586=)
|
rs773812422
|
0.00001
|
|
NM_001943.5(DSG2):c.2335-9T>C
|
rs757355636
|
0.00001
|
|
NM_001943.5(DSG2):c.269C>T (p.Thr90Ile)
|
rs772744115
|
0.00001
|
|
NM_001943.5(DSG2):c.3224C>T (p.Thr1075Met)
|
rs943749481
|
0.00001
|
|
NM_001943.5(DSG2):c.447T>C (p.Val149=)
|
rs1389484271
|
0.00001
|
|
NM_001943.5(DSG2):c.828+5C>T
|
rs373286117
|
0.00001
|
|
NM_001943.5(DSG2):c.990C>T (p.Asn330=)
|
rs140575919
|
0.00001
|
|
NM_001953.5(TYMP):c.517-14G>A
|
rs759173369
|
0.00001
|
|
NM_001961.4(EEF2):c.366C>T (p.Thr122=)
|
rs562486328
|
0.00001
|
|
NM_001961.4(EEF2):c.746G>A (p.Arg249Gln)
|
rs769755490
|
0.00001
|
|
NM_001966.4(EHHADH):c.1693C>T (p.Leu565Phe)
|
rs771154497
|
0.00001
|
|
NM_001966.4(EHHADH):c.2078A>G (p.Glu693Gly)
|
rs747498106
|
0.00001
|
|
NM_001987.5(ETV6):c.51T>C (p.Tyr17=)
|
rs144055004
|
0.00001
|
|
NM_001999.4(FBN2):c.1143G>T (p.Gly381=)
|
rs749428195
|
0.00001
|
|
NM_001999.4(FBN2):c.2013G>A (p.Gly671=)
|
rs778762668
|
0.00001
|
|
NM_001999.4(FBN2):c.2099C>T (p.Thr700Ile)
|
rs773667668
|
0.00001
|
|
NM_001999.4(FBN2):c.3277A>G (p.Ile1093Val)
|
rs747248488
|
0.00001
|
|
NM_001999.4(FBN2):c.4608T>C (p.Cys1536=)
|
rs1176811808
|
0.00001
|
|
NM_001999.4(FBN2):c.5303T>C (p.Val1768Ala)
|
rs779202876
|
0.00001
|
|
NM_001999.4(FBN2):c.5587C>T (p.Arg1863Trp)
|
rs1192632165
|
0.00001
|
|
NM_001999.4(FBN2):c.5800+10G>A
|
rs546373462
|
0.00001
|
|
NM_001999.4(FBN2):c.6033C>G (p.Gly2011=)
|
rs749647897
|
0.00001
|
|
NM_001999.4(FBN2):c.6438C>T (p.Asp2146=)
|
rs772832233
|
0.00001
|
|
NM_001999.4(FBN2):c.680G>A (p.Gly227Glu)
|
rs760247833
|
0.00001
|
|
NM_002024.6(FMR1):c.1654+10T>A
|
rs782472011
|
0.00001
|
|
NM_002076.4(GNS):c.1104G>T (p.Leu368=)
|
rs766168524
|
0.00001
|
|
NM_002103.5(GYS1):c.1242C>T (p.Pro414=)
|
rs751382433
|
0.00001
|
|
NM_002103.5(GYS1):c.216C>T (p.Gly72=)
|
rs773065230
|
0.00001
|
|
NM_002160.4(TNC):c.1477G>A (p.Gly493Arg)
|
rs542499079
|
0.00001
|
|
NM_002180.3(IGHMBP2):c.830A>G (p.Gln277Arg)
|
rs112495985
|
0.00001
|
|
NM_002187.3(IL12B):c.105G>A (p.Leu35=)
|
rs1562113724
|
0.00001
|
|
NM_002187.3(IL12B):c.822C>T (p.Cys274=)
|
rs764163895
|
0.00001
|
|
NM_002206.3(ITGA7):c.2779C>T (p.Arg927Trp)
|
rs760407686
|
0.00001
|
|
NM_002225.5(IVD):c.150T>A (p.Arg50=)
|
rs762440985
|
0.00001
|
|
NM_002225.5(IVD):c.784+9C>T
|
rs1891254953
|
0.00001
|
|
NM_002230.4(JUP):c.209-8G>A
|
rs1165044090
|
0.00001
|
|
NM_002230.4(JUP):c.2179G>A (p.Asp727Asn)
|
rs1285789744
|
0.00001
|
|
NM_002230.4(JUP):c.266T>C (p.Met89Thr)
|
rs542745694
|
0.00001
|
|
NM_002230.4(JUP):c.335A>G (p.Asn112Ser)
|
rs372364561
|
0.00001
|
|
NM_002230.4(JUP):c.661G>A (p.Ala221Thr)
|
rs782076415
|
0.00001
|
|
NM_002230.4(JUP):c.950A>T (p.Gln317Leu)
|
rs782509792
|
0.00001
|
|
NM_002234.4(KCNA5):c.1210C>T (p.Leu404=)
|
rs886049576
|
0.00001
|
|
NM_002234.4(KCNA5):c.1701G>A (p.Gly567=)
|
rs771735295
|
0.00001
|
|
NM_002241.5(KCNJ10):c.21G>A (p.Val7=)
|
rs750227861
|
0.00001
|
|
NM_002292.4(LAMB2):c.2669C>T (p.Thr890Ile)
|
rs527639885
|
0.00001
|
|
NM_002292.4(LAMB2):c.2720+13C>A
|
rs369359244
|
0.00001
|
|
NM_002294.3(LAMP2):c.209G>T (p.Gly70Val)
|
rs1340367353
|
0.00001
|
|
NM_002294.3(LAMP2):c.556+13T>A
|
rs1380200946
|
0.00001
|
|
NM_002303.6(LEPR):c.921G>C (p.Gln307His)
|
rs531183918
|
0.00001
|
|
NM_002334.4(LRP4):c.2010G>A (p.Thr670=)
|
rs199654257
|
0.00001
|
|
NM_002335.4(LRP5):c.2463C>T (p.Thr821=)
|
rs778180589
|
0.00001
|
|
NM_002335.4(LRP5):c.4359C>T (p.Cys1453=)
|
rs755205426
|
0.00001
|
|
NM_002335.4(LRP5):c.4488+6G>T
|
rs751829465
|
0.00001
|
|
NM_002335.4(LRP5):c.480C>T (p.Pro160=)
|
rs377114189
|
0.00001
|
|
NM_002386.4(MC1R):c.66C>T (p.Pro22=)
|
rs773395822
|
0.00001
|
|
NM_002397.5(MEF2C):c.1021G>A (p.Ala341Thr)
|
rs797045703
|
0.00001
|
|
NM_002397.5(MEF2C):c.402+75G>T
|
rs997329230
|
0.00001
|
|
NM_002397.5(MEF2C):c.585C>T (p.Asn195=)
|
rs398123686
|
0.00001
|
|
NM_002427.4(MMP13):c.1251G>A (p.Pro417=)
|
rs150203792
|
0.00001
|
|
NM_002435.3(MPI):c.145-11T>C
|
rs768029221
|
0.00001
|
|
NM_002435.3(MPI):c.855G>A (p.Glu285=)
|
rs769504650
|
0.00001
|
|
NM_002437.5(MPV17):c.70+8T>G
|
rs755647054
|
0.00001
|
|
NM_002439.5(MSH3):c.1028-5A>T
|
rs774961818
|
0.00001
|
|
NM_002439.5(MSH3):c.144C>T (p.Asp48=)
|
rs747024539
|
0.00001
|
|
NM_002439.5(MSH3):c.195G>C (p.Ala65=)
|
rs761734241
|
0.00001
|
|
NM_002439.5(MSH3):c.2370A>G (p.Arg790=)
|
rs1278142628
|
0.00001
|
|
NM_002439.5(MSH3):c.2436-3T>C
|
rs374901174
|
0.00001
|
|
NM_002439.5(MSH3):c.2655A>G (p.Ser885=)
|
rs192592067
|
0.00001
|
|
NM_002439.5(MSH3):c.2985G>A (p.Glu995=)
|
rs1324032838
|
0.00001
|
|
NM_002439.5(MSH3):c.580-5G>T
|
rs770150309
|
0.00001
|
|
NM_002447.4(MST1R):c.2464C>G (p.Gln822Glu)
|
rs375573917
|
0.00001
|
|
NM_002454.3(MTRR):c.1086G>A (p.Ala362=)
|
rs750381895
|
0.00001
|
|
NM_002454.3(MTRR):c.1769+8A>G
|
rs892239997
|
0.00001
|
|
NM_002454.3(MTRR):c.1890G>A (p.Gln630=)
|
rs9282786
|
0.00001
|
|
NM_002454.3(MTRR):c.399A>G (p.Val133=)
|
rs560392566
|
0.00001
|
|
NM_002470.4(MYH3):c.1260+18G>A
|
rs771181525
|
0.00001
|
|
NM_002470.4(MYH3):c.4801G>A (p.Ala1601Thr)
|
rs764578014
|
0.00001
|
|
NM_002471.4(MYH6):c.643-3T>C
|
rs113552091
|
0.00001
|
|
NM_002473.6(MYH9):c.11A>G (p.Gln4Arg)
|
rs773960235
|
0.00001
|
|
NM_002473.6(MYH9):c.3397C>G (p.Gln1133Glu)
|
rs368797590
|
0.00001
|
|
NM_002473.6(MYH9):c.3592G>A (p.Val1198Met)
|
rs200732002
|
0.00001
|
|
NM_002473.6(MYH9):c.3903G>C (p.Lys1301Asn)
|
rs767235227
|
0.00001
|
|
NM_002473.6(MYH9):c.4306G>A (p.Ala1436Thr)
|
rs373912645
|
0.00001
|
|
NM_002473.6(MYH9):c.4332G>A (p.Lys1444=)
|
rs758755198
|
0.00001
|
|
NM_002473.6(MYH9):c.4391G>A (p.Arg1464His)
|
rs199968414
|
0.00001
|
|
NM_002473.6(MYH9):c.4448G>A (p.Arg1483Gln)
|
rs727503285
|
0.00001
|
|
NM_002473.6(MYH9):c.4741G>A (p.Glu1581Lys)
|
rs566790184
|
0.00001
|
|
NM_002473.6(MYH9):c.5151-5C>T
|
rs762613036
|
0.00001
|
|
NM_002473.6(MYH9):c.519-6T>G
|
rs867195616
|
0.00001
|
|
NM_002473.6(MYH9):c.5766-5C>T
|
rs746967490
|
0.00001
|
|
NM_002474.3(MYH11):c.1356T>A (p.Ala452=)
|
rs778073237
|
0.00001
|
|
NM_002474.3(MYH11):c.1576-4A>G
|
rs189193825
|
0.00001
|
|
NM_002474.3(MYH11):c.1823A>G (p.Asn608Ser)
|
rs750642581
|
0.00001
|
|
NM_002474.3(MYH11):c.2345G>A (p.Arg782Gln)
|
rs200835799
|
0.00001
|
|
NM_002474.3(MYH11):c.2997+10G>T
|
rs886051760
|
0.00001
|
|
NM_002474.3(MYH11):c.3375G>C (p.Glu1125Asp)
|
rs779019646
|
0.00001
|
|
NM_002474.3(MYH11):c.3469G>A (p.Asp1157Asn)
|
rs746943696
|
0.00001
|
|
NM_002474.3(MYH11):c.3831G>A (p.Glu1277=)
|
rs752821481
|
0.00001
|
|
NM_002474.3(MYH11):c.3910A>C (p.Ile1304Leu)
|
rs200737737
|
0.00001
|
|
NM_002474.3(MYH11):c.4069G>A (p.Glu1357Lys)
|
rs141184241
|
0.00001
|
|
NM_002474.3(MYH11):c.4074C>T (p.Ala1358=)
|
rs370519992
|
0.00001
|
|
NM_002474.3(MYH11):c.465C>T (p.Tyr155=)
|
rs145810355
|
0.00001
|
|
NM_002474.3(MYH11):c.4660G>A (p.Glu1554Lys)
|
rs372598970
|
0.00001
|
|
NM_002474.3(MYH11):c.4899C>T (p.Ala1633=)
|
rs760584464
|
0.00001
|
|
NM_002474.3(MYH11):c.5089G>A (p.Ala1697Thr)
|
rs538145374
|
0.00001
|
|
NM_002474.3(MYH11):c.540T>C (p.Ser180=)
|
rs182700462
|
0.00001
|
|
NM_002474.3(MYH11):c.5422G>A (p.Val1808Ile)
|
rs780870767
|
0.00001
|
|
NM_002474.3(MYH11):c.5874G>A (p.Thr1958=)
|
rs761000142
|
0.00001
|
|
NM_002474.3(MYH11):c.720A>T (p.Ser240=)
|
rs143160789
|
0.00001
|
|
NM_002485.5(NBN):c.1056A>G (p.Leu352=)
|
rs369092711
|
0.00001
|
|
NM_002485.5(NBN):c.1238A>G (p.Asn413Ser)
|
rs529340553
|
0.00001
|
|
NM_002485.5(NBN):c.1315A>G (p.Ile439Val)
|
rs752837508
|
0.00001
|
|
NM_002485.5(NBN):c.1383G>A (p.Pro461=)
|
rs886063169
|
0.00001
|
|
NM_002485.5(NBN):c.1397+3C>G
|
rs876660481
|
0.00001
|
|
NM_002485.5(NBN):c.1465C>G (p.Leu489Val)
|
rs143948240
|
0.00001
|
|
NM_002485.5(NBN):c.1659G>A (p.Met553Ile)
|
rs876659960
|
0.00001
|
|
NM_002485.5(NBN):c.171+4T>C
|
rs587782290
|
0.00001
|
|
NM_002485.5(NBN):c.1915-8C>T
|
rs368132097
|
0.00001
|
|
NM_002485.5(NBN):c.1989G>A (p.Val663=)
|
rs757753217
|
0.00001
|
|
NM_002485.5(NBN):c.286G>A (p.Gly96Ser)
|
rs730882133
|
0.00001
|
|
NM_002485.5(NBN):c.297T>C (p.Phe99=)
|
rs1563580668
|
0.00001
|
|
NM_002485.5(NBN):c.321-17C>G
|
rs763878712
|
0.00001
|
|
NM_002485.5(NBN):c.37+3A>G
|
rs764356392
|
0.00001
|
|
NM_002485.5(NBN):c.38-7A>G
|
rs863224392
|
0.00001
|
|
NM_002485.5(NBN):c.390A>G (p.Gln130=)
|
rs146150499
|
0.00001
|
|
NM_002485.5(NBN):c.468A>C (p.Lys156Asn)
|
rs730881858
|
0.00001
|
|
NM_002485.5(NBN):c.567G>A (p.Gln189=)
|
rs1203807404
|
0.00001
|
|
NM_002485.5(NBN):c.584+9T>C
|
rs746913991
|
0.00001
|
|
NM_002485.5(NBN):c.596C>G (p.Pro199Arg)
|
rs730881844
|
0.00001
|
|
NM_002485.5(NBN):c.646C>A (p.Gln216Lys)
|
rs769416
|
0.00001
|
|
NM_002485.5(NBN):c.666C>T (p.Phe222=)
|
rs876661098
|
0.00001
|
|
NM_002485.5(NBN):c.798G>A (p.Pro266=)
|
rs368786672
|
0.00001
|
|
NM_002485.5(NBN):c.897G>A (p.Arg299=)
|
rs779798363
|
0.00001
|
|
NM_002485.5(NBN):c.994+5T>C
|
rs778254433
|
0.00001
|
|
NM_002496.4(NDUFS8):c.373-5C>T
|
rs753246393
|
0.00001
|
|
NM_002506.3(NGF):c.174G>A (p.Ala58=)
|
rs147326889
|
0.00001
|
|
NM_002506.3(NGF):c.93C>G (p.Thr31=)
|
rs1014644520
|
0.00001
|
|
NM_002528.7(NTHL1):c.-1C>T
|
rs532310992
|
0.00001
|
|
NM_002528.7(NTHL1):c.146G>A (p.Arg49His)
|
rs566254536
|
0.00001
|
|
NM_002528.7(NTHL1):c.17C>T (p.Ala6Val)
|
rs767282292
|
0.00001
|
|
NM_002528.7(NTHL1):c.402C>G (p.Thr134=)
|
rs1169048585
|
0.00001
|
|
NM_002528.7(NTHL1):c.519C>T (p.Phe173=)
|
rs1401228518
|
0.00001
|
|
NM_002528.7(NTHL1):c.621G>A (p.Pro207=)
|
rs745383145
|
0.00001
|
|
NM_002528.7(NTHL1):c.690G>A (p.Val230=)
|
rs756156987
|
0.00001
|
|
NM_002528.7(NTHL1):c.717C>T (p.Asn239=)
|
rs1475205147
|
0.00001
|
|
NM_002528.7(NTHL1):c.834C>T (p.Gly278=)
|
rs747049346
|
0.00001
|
|
NM_002529.4(NTRK1):c.1005G>A (p.Pro335=)
|
rs780334454
|
0.00001
|
|
NM_002529.4(NTRK1):c.1196-11T>C
|
rs1024148691
|
0.00001
|
|
NM_002529.4(NTRK1):c.12C>T (p.Gly4=)
|
rs757229319
|
0.00001
|
|
NM_002529.4(NTRK1):c.1359G>A (p.Pro453=)
|
rs200937156
|
0.00001
|
|
NM_002529.4(NTRK1):c.1646C>T (p.Ala549Val)
|
rs763247367
|
0.00001
|
|
NM_002529.4(NTRK1):c.1647G>A (p.Ala549=)
|
rs771010259
|
0.00001
|
|
NM_002529.4(NTRK1):c.1650C>T (p.Ser550=)
|
rs774664479
|
0.00001
|
|
NM_002529.4(NTRK1):c.1734C>G (p.Val578=)
|
rs953974597
|
0.00001
|
|
NM_002529.4(NTRK1):c.2047-6T>C
|
rs762866535
|
0.00001
|
|
NM_002529.4(NTRK1):c.2124C>T (p.Ser708=)
|
rs1371693296
|
0.00001
|
|
NM_002529.4(NTRK1):c.326A>G (p.Asp109Gly)
|
rs141592864
|
0.00001
|
|
NM_002547.3(OPHN1):c.1391G>C (p.Arg464Thr)
|
rs753866423
|
0.00001
|
|
NM_002547.3(OPHN1):c.2316A>G (p.Thr772=)
|
rs1403350105
|
0.00001
|
|
NM_002582.4(PARN):c.1067A>G (p.Asn356Ser)
|
rs757655633
|
0.00001
|
|
NM_002609.4(PDGFRB):c.2588C>A (p.Thr863Asn)
|
rs750896639
|
0.00001
|
|
NM_002609.4(PDGFRB):c.419C>T (p.Thr140Met)
|
rs138830253
|
0.00001
|
|
NM_002615.7(SERPINF1):c.510G>A (p.Thr170=)
|
rs765928741
|
0.00001
|
|
NM_002617.4(PEX10):c.112+11G>T
|
rs1322541651
|
0.00001
|
|
NM_002617.4(PEX10):c.194-5C>T
|
rs375032738
|
0.00001
|
|
NM_002617.4(PEX10):c.913-3C>T
|
rs777570617
|
0.00001
|
|
NM_002618.4(PEX13):c.1158G>A (p.Lys386=)
|
rs371789976
|
0.00001
|
|
NM_002633.3(PGM1):c.327T>C (p.Ile109=)
|
rs770271653
|
0.00001
|
|
NM_002637.4(PHKA1):c.1698C>A (p.Ile566=)
|
rs369728544
|
0.00001
|
|
NM_002637.4(PHKA1):c.2912G>A (p.Arg971Gln)
|
rs782702439
|
0.00001
|
|
NM_002637.4(PHKA1):c.3043C>T (p.Arg1015Cys)
|
rs782191011
|
0.00001
|
|
NM_002661.5(PLCG2):c.1855G>A (p.Glu619Lys)
|
rs763166039
|
0.00001
|
|
NM_002661.5(PLCG2):c.3493G>A (p.Val1165Ile)
|
rs372557475
|
0.00001
|
|
NM_002691.4(POLD1):c.1148C>T (p.Thr383Ile)
|
rs201654210
|
0.00001
|
|
NM_002691.4(POLD1):c.1291A>G (p.Ile431Val)
|
rs752444746
|
0.00001
|
|
NM_002691.4(POLD1):c.1506C>A (p.Asp502Glu)
|
rs753870010
|
0.00001
|
|
NM_002691.4(POLD1):c.1869G>T (p.Arg623=)
|
rs748380365
|
0.00001
|
|
NM_002691.4(POLD1):c.197C>G (p.Ala66Gly)
|
rs199792522
|
0.00001
|
|
NM_002691.4(POLD1):c.202+3A>G
|
rs375365167
|
0.00001
|
|
NM_002691.4(POLD1):c.203G>A (p.Gly68Glu)
|
rs144707871
|
0.00001
|
|
NM_002691.4(POLD1):c.2142G>A (p.Leu714=)
|
rs1060501816
|
0.00001
|
|
NM_002691.4(POLD1):c.2154+4G>A
|
rs373416476
|
0.00001
|
|
NM_002691.4(POLD1):c.2250+3C>T
|
rs779097933
|
0.00001
|
|
NM_002691.4(POLD1):c.2251-4G>A
|
rs768364989
|
0.00001
|
|
NM_002691.4(POLD1):c.2251-5C>T
|
rs1236954722
|
0.00001
|
|
NM_002691.4(POLD1):c.2327G>A (p.Arg776Gln)
|
rs141801845
|
0.00001
|
|
NM_002691.4(POLD1):c.2388+4C>T
|
rs371542643
|
0.00001
|
|
NM_002691.4(POLD1):c.2599G>A (p.Val867Ile)
|
rs367680864
|
0.00001
|
|
NM_002691.4(POLD1):c.2717+4C>T
|
rs1064795361
|
0.00001
|
|
NM_002691.4(POLD1):c.273A>G (p.Thr91=)
|
rs745850676
|
0.00001
|
|
NM_002691.4(POLD1):c.2820+3C>T
|
rs986822818
|
0.00001
|
|
NM_002691.4(POLD1):c.2821-4G>A
|
rs369042179
|
0.00001
|
|
NM_002691.4(POLD1):c.2821-5C>T
|
rs1057521374
|
0.00001
|
|
NM_002691.4(POLD1):c.3079G>A (p.Glu1027Lys)
|
rs1489140479
|
0.00001
|
|
NM_002691.4(POLD1):c.3120+6A>G
|
rs1231856737
|
0.00001
|
|
NM_002691.4(POLD1):c.317-5C>T
|
rs768082423
|
0.00001
|
|
NM_002691.4(POLD1):c.3231C>T (p.Pro1077=)
|
rs770660636
|
0.00001
|
|
NM_002691.4(POLD1):c.429C>T (p.Gly143=)
|
rs372244044
|
0.00001
|
|
NM_002691.4(POLD1):c.537G>T (p.Gly179=)
|
rs756483178
|
0.00001
|
|
NM_002691.4(POLD1):c.55C>T (p.Arg19Cys)
|
rs368033860
|
0.00001
|
|
NM_002691.4(POLD1):c.564G>A (p.Leu188=)
|
rs2038665417
|
0.00001
|
|
NM_002691.4(POLD1):c.583C>T (p.Arg195Ter)
|
rs377690809
|
0.00001
|
|
NM_002691.4(POLD1):c.658G>A (p.Val220Met)
|
rs749052483
|
0.00001
|
|
NM_002691.4(POLD1):c.758+4C>T
|
rs771346692
|
0.00001
|
|
NM_002691.4(POLD1):c.789C>T (p.Cys263=)
|
rs766087932
|
0.00001
|
|
NM_002691.4(POLD1):c.89G>A (p.Arg30Gln)
|
rs765969481
|
0.00001
|
|
NM_002693.3(POLG):c.116A>G (p.Gln39Arg)
|
rs749750052
|
0.00001
|
|
NM_002693.3(POLG):c.1251G>A (p.Arg417=)
|
rs1567191509
|
0.00001
|
|
NM_002693.3(POLG):c.1599C>G (p.Cys533Trp)
|
rs754246294
|
0.00001
|
|
NM_002693.3(POLG):c.1883G>A (p.Arg628Gln)
|
rs201871736
|
0.00001
|
|
NM_002693.3(POLG):c.1887C>T (p.Asp629=)
|
rs886051524
|
0.00001
|
|
NM_002693.3(POLG):c.1898A>C (p.Lys633Thr)
|
rs568913937
|
0.00001
|
|
NM_002693.3(POLG):c.2040G>A (p.Leu680=)
|
rs367740265
|
0.00001
|
|
NM_002693.3(POLG):c.3258G>A (p.Ser1086=)
|
rs763312940
|
0.00001
|
|
NM_002693.3(POLG):c.3273+6T>A
|
rs886051522
|
0.00001
|
|
NM_002693.3(POLG):c.330C>T (p.His110=)
|
rs376266682
|
0.00001
|
|
NM_002693.3(POLG):c.3472C>A (p.Leu1158Ile)
|
rs1278715599
|
0.00001
|
|
NM_002693.3(POLG):c.3586G>A (p.Asp1196Asn)
|
rs765344513
|
0.00001
|
|
NM_002693.3(POLG):c.581C>T (p.Ala194Val)
|
rs779122022
|
0.00001
|
|
NM_002693.3(POLG):c.603C>T (p.Val201=)
|
rs768005050
|
0.00001
|
|
NM_002700.3(POU4F3):c.526T>G (p.Cys176Gly)
|
rs368239745
|
0.00001
|
|
NM_002700.3(POU4F3):c.798A>G (p.Pro266=)
|
rs572492254
|
0.00001
|
|
NM_002734.5(PRKAR1A):c.-11C>T
|
rs1021510770
|
0.00001
|
|
NM_002734.5(PRKAR1A):c.309G>A (p.Glu103=)
|
rs746113372
|
0.00001
|
|
NM_002755.4(MAP2K1):c.1172C>T (p.Ala391Val)
|
rs896594939
|
0.00001
|
|
NM_002755.4(MAP2K1):c.961C>T (p.Pro321Ser)
|
rs771613524
|
0.00001
|
|
NM_002755.4(MAP2K1):c.984A>C (p.Gly328=)
|
rs773755873
|
0.00001
|
|
NM_002769.5(PRSS1):c.721A>G (p.Asn241Asp)
|
rs141554682
|
0.00001
|
|
NM_002775.5(HTRA1):c.573-8G>A
|
rs779261850
|
0.00001
|
|
NM_002778.4(PSAP):c.1146C>T (p.Cys382=)
|
rs573095617
|
0.00001
|
|
NM_002778.4(PSAP):c.1432-4A>G
|
rs775086571
|
0.00001
|
|
NM_002778.4(PSAP):c.250-12G>A
|
rs886047152
|
0.00001
|
|
NM_002778.4(PSAP):c.423C>T (p.Leu141=)
|
rs780891597
|
0.00001
|
|
NM_002834.5(PTPN11):c.1579C>T (p.Arg527Cys)
|
rs191525506
|
0.00001
|
|
NM_002834.5(PTPN11):c.931A>G (p.Met311Val)
|
rs774939392
|
0.00001
|
|
NM_002834.5(PTPN11):c.957C>T (p.Asn319=)
|
rs771407775
|
0.00001
|
|
NM_002872.5(RAC2):c.562G>A (p.Ala188Thr)
|
rs758461304
|
0.00001
|
|
NM_002878.4(RAD51D):c.144+3G>T
|
rs761057565
|
0.00001
|
|
NM_002878.4(RAD51D):c.145-3C>T
|
rs201974522
|
0.00001
|
|
NM_002878.4(RAD51D):c.22C>T (p.Leu8=)
|
rs876659203
|
0.00001
|
|
NM_002878.4(RAD51D):c.345+5A>G
|
rs878854562
|
0.00001
|
|
NM_002878.4(RAD51D):c.481-5T>G
|
rs374382703
|
0.00001
|
|
NM_002878.4(RAD51D):c.49A>G (p.Ile17Val)
|
rs1002032036
|
0.00001
|
|
NM_002878.4(RAD51D):c.70A>G (p.Arg24Gly)
|
rs781611267
|
0.00001
|
|
NM_002878.4(RAD51D):c.739-3C>T
|
rs1235042092
|
0.00001
|
|
NM_002878.4(RAD51D):c.776G>A (p.Arg259Lys)
|
rs771473156
|
0.00001
|
|
NM_002878.4(RAD51D):c.80C>A (p.Thr27Lys)
|
rs139642328
|
0.00001
|
|
NM_002878.4(RAD51D):c.865G>A (p.Gly289Ser)
|
rs587782129
|
0.00001
|
|
NM_002878.4(RAD51D):c.869G>A (p.Arg290Gln)
|
rs773883374
|
0.00001
|
|
NM_002878.4(RAD51D):c.904-13C>A
|
rs964696175
|
0.00001
|
|
NM_002880.4(RAF1):c.1247A>G (p.Asn416Ser)
|
rs774198365
|
0.00001
|
|
NM_002880.4(RAF1):c.1687C>T (p.Arg563Ter)
|
rs532786413
|
0.00001
|
|
NM_002880.4(RAF1):c.321T>C (p.Gly107=)
|
rs201937982
|
0.00001
|
|
NM_002880.4(RAF1):c.601A>G (p.Ile201Val)
|
rs757700986
|
0.00001
|
|
NM_002880.4(RAF1):c.835G>A (p.Asp279Asn)
|
rs368796800
|
0.00001
|
|
NM_002880.4(RAF1):c.845G>A (p.Arg282Gln)
|
rs752713997
|
0.00001
|
|
NM_002890.3(RASA1):c.2139T>C (p.Ser713=)
|
rs202220195
|
0.00001
|
|
NM_002890.3(RASA1):c.2926-14C>T
|
rs886060843
|
0.00001
|
|
NM_002890.3(RASA1):c.3133G>T (p.Asp1045Tyr)
|
rs144524710
|
0.00001
|
|
NM_002890.3(RASA1):c.567G>A (p.Thr189=)
|
rs139174054
|
0.00001
|
|
NM_002894.3(RBBP8):c.153-3T>C
|
rs369315269
|
0.00001
|
|
NM_002906.4(RDX):c.995T>C (p.Ile332Thr)
|
rs533107164
|
0.00001
|
|
NM_002907.4(RECQL):c.1356-7T>C
|
rs370420341
|
0.00001
|
|
NM_002907.4(RECQL):c.1382A>G (p.His461Arg)
|
rs201573409
|
0.00001
|
|
NM_002907.4(RECQL):c.1446T>C (p.Ser482=)
|
rs767408144
|
0.00001
|
|
NM_002907.4(RECQL):c.1661A>G (p.Tyr554Cys)
|
rs544884266
|
0.00001
|
|
NM_002907.4(RECQL):c.789G>A (p.Thr263=)
|
rs774302679
|
0.00001
|
|
NM_002941.4(ROBO1):c.2512G>A (p.Val838Ile)
|
rs189089312
|
0.00001
|
|
NM_002968.3(SALL1):c.220G>A (p.Val74Ile)
|
rs529479120
|
0.00001
|
|
NM_002968.3(SALL1):c.2590G>A (p.Ala864Thr)
|
rs199626036
|
0.00001
|
|
NM_002968.3(SALL1):c.2825C>A (p.Pro942His)
|
rs751069468
|
0.00001
|
|
NM_002979.5(SCP2):c.1347A>G (p.Glu449=)
|
rs376582235
|
0.00001
|
|
NM_002979.5(SCP2):c.648T>C (p.Phe216=)
|
rs774694600
|
0.00001
|
|
NM_002979.5(SCP2):c.974-3T>C
|
rs769732346
|
0.00001
|
|
NM_003000.3(SDHB):c.700C>T (p.Leu234=)
|
rs201728852
|
0.00001
|
|
NM_003001.5(SDHC):c.420A>G (p.Gly140=)
|
rs794727791
|
0.00001
|
|
NM_003036.4(SKI):c.1070G>A (p.Arg357Gln)
|
rs200874294
|
0.00001
|
|
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr)
|
rs370558210
|
0.00001
|
|
NM_003036.4(SKI):c.2058C>T (p.Ala686=)
|
rs1171554207
|
0.00001
|
|
NM_003036.4(SKI):c.2092C>T (p.Leu698=)
|
rs766929334
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1621A>T (p.Met541Leu)
|
rs758158685
|
0.00001
|
|
NM_003060.4(SLC22A5):c.197C>T (p.Thr66Ile)
|
rs1169005119
|
0.00001
|
|
NM_003070.5(SMARCA2):c.1064C>G (p.Ala355Gly)
|
rs1245060732
|
0.00001
|
|
NM_003070.5(SMARCA2):c.3229T>A (p.Ser1077Thr)
|
rs1388950613
|
0.00001
|
|
NM_003070.5(SMARCA2):c.4164C>T (p.Asn1388=)
|
rs759832527
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1098C>G (p.Ile366Met)
|
rs532242119
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1135G>A (p.Ala379Thr)
|
rs769660597
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1158A>G (p.Glu386=)
|
rs1268876800
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1341G>A (p.Leu447=)
|
rs147558972
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2021C>T (p.Pro674Leu)
|
rs747463080
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2124-5C>A
|
rs182602020
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2286G>A (p.Leu762=)
|
rs1600208852
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2439-12T>G
|
rs1462368992
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3846C>T (p.Asn1282=)
|
rs776413354
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4026G>A (p.Glu1342=)
|
rs1029640674
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4152G>A (p.Thr1384=)
|
rs372620534
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4273A>T (p.Thr1425Ser)
|
rs1060502082
|
0.00001
|
|
NM_003072.5(SMARCA4):c.458C>T (p.Pro153Leu)
|
rs539710314
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4834G>A (p.Gly1612Ser)
|
rs372319442
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4876G>A (p.Val1626Met)
|
rs757412819
|
0.00001
|
|
NM_003072.5(SMARCA4):c.4885G>A (p.Asp1629Asn)
|
rs374648988
|
0.00001
|
|
NM_003072.5(SMARCA4):c.731C>T (p.Pro244Leu)
|
rs587778683
|
0.00001
|
|
NM_003072.5(SMARCA4):c.952G>A (p.Val318Ile)
|
rs758091260
|
0.00001
|
|
NM_003072.5(SMARCA4):c.973G>A (p.Val325Met)
|
rs1361910224
|
0.00001
|
|
NM_003073.5(SMARCB1):c.362+8G>A
|
rs727504162
|
0.00001
|
|
NM_003098.3(SNTA1):c.526T>C (p.Phe176Leu)
|
rs781703999
|
0.00001
|
|
NM_003108.4(SOX11):c.459C>T (p.Gly153=)
|
rs751093717
|
0.00001
|
|
NM_003108.4(SOX11):c.951C>T (p.Asn317=)
|
rs750390370
|
0.00001
|
|
NM_003119.4(SPG7):c.2373G>A (p.Pro791=)
|
rs768453376
|
0.00001
|
|
NM_003119.4(SPG7):c.618+14C>T
|
rs574361328
|
0.00001
|
|
NM_003126.4(SPTA1):c.5040C>T (p.Asn1680=)
|
rs749363866
|
0.00001
|
|
NM_003126.4(SPTA1):c.5786C>G (p.Ala1929Gly)
|
rs199547344
|
0.00001
|
|
NM_003126.4(SPTA1):c.6631C>T (p.Arg2211Cys)
|
rs773800556
|
0.00001
|
|
NM_003172.4(SURF1):c.106+15C>G
|
rs781892153
|
0.00001
|
|
NM_003172.4(SURF1):c.366C>T (p.Val122=)
|
rs886063630
|
0.00001
|
|
NM_003172.4(SURF1):c.801G>A (p.Leu267=)
|
rs782120692
|
0.00001
|
|
NM_003183.6(ADAM17):c.362-11T>C
|
rs1664944582
|
0.00001
|
|
NM_003193.5(TBCE):c.133G>A (p.Glu45Lys)
|
rs199888401
|
0.00001
|
|
NM_003200.5(TCF3):c.549+7C>T
|
rs747579840
|
0.00001
|
|
NM_003238.6(TGFB2):c.918G>A (p.Ala306=)
|
rs767936611
|
0.00001
|
|
NM_003242.6(TGFBR2):c.115A>T (p.Thr39Ser)
|
rs780280433
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1525-6C>G
|
rs748388518
|
0.00001
|
|
NM_003242.6(TGFBR2):c.610G>A (p.Gly204Ser)
|
rs773431795
|
0.00001
|
|
NM_003242.6(TGFBR2):c.621G>A (p.Arg207=)
|
rs886058304
|
0.00001
|
|
NM_003280.3(TNNC1):c.*8C>T
|
rs760637468
|
0.00001
|
|
NM_003283.6(TNNT1):c.366C>T (p.Arg122=)
|
rs375999352
|
0.00001
|
|
NM_003289.4(TPM2):c.558C>T (p.Ala186=)
|
rs746177794
|
0.00001
|
|
NM_003289.4(TPM2):c.564-9C>T
|
rs763429317
|
0.00001
|
|
NM_003331.5(TYK2):c.1404C>T (p.Asp468=)
|
rs374132564
|
0.00001
|
|
NM_003331.5(TYK2):c.2658G>A (p.Ala886=)
|
rs761205319
|
0.00001
|
|
NM_003331.5(TYK2):c.879C>T (p.Ile293=)
|
rs375414145
|
0.00001
|
|
NM_003383.5(VLDLR):c.1343G>A (p.Arg448Gln)
|
rs137946976
|
0.00001
|
|
NM_003383.5(VLDLR):c.1782G>A (p.Leu594=)
|
rs376819187
|
0.00001
|
|
NM_003384.3(VRK1):c.576+9A>G
|
rs978347799
|
0.00001
|
|
NM_003384.3(VRK1):c.577-4A>G
|
rs1194395636
|
0.00001
|
|
NM_003384.3(VRK1):c.828T>C (p.Ile276=)
|
rs1334577291
|
0.00001
|
|
NM_003392.7(WNT5A):c.530G>C (p.Trp177Ser)
|
rs1231823028
|
0.00001
|
|
NM_003413.4(ZIC3):c.668A>G (p.Asn223Ser)
|
rs1034877221
|
0.00001
|
|
NM_003477.3(PDHX):c.44G>A (p.Arg15His)
|
rs387906998
|
0.00001
|
|
NM_003480.4(MFAP5):c.300G>A (p.Pro100=)
|
rs1294533558
|
0.00001
|
|
NM_003480.4(MFAP5):c.512A>G (p.Asn171Ser)
|
rs1042828478
|
0.00001
|
|
NM_003482.4(KMT2D):c.10467G>T (p.Gln3489His)
|
rs535351117
|
0.00001
|
|
NM_003482.4(KMT2D):c.11304T>C (p.Ala3768=)
|
rs771212750
|
0.00001
|
|
NM_003482.4(KMT2D):c.11599C>A (p.Gln3867Lys)
|
rs1200655258
|
0.00001
|
|
NM_003482.4(KMT2D):c.11815C>G (p.Gln3939Glu)
|
rs1326092141
|
0.00001
|
|
NM_003482.4(KMT2D):c.12634C>T (p.Arg4212Trp)
|
rs760279999
|
0.00001
|
|
NM_003482.4(KMT2D):c.13645G>A (p.Glu4549Lys)
|
rs1238014538
|
0.00001
|
|
NM_003482.4(KMT2D):c.14057A>C (p.Asn4686Thr)
|
rs1188206999
|
0.00001
|
|
NM_003482.4(KMT2D):c.14075+8C>T
|
rs962057732
|
0.00001
|
|
NM_003482.4(KMT2D):c.14972G>A (p.Arg4991Gln)
|
rs761108868
|
0.00001
|
|
NM_003482.4(KMT2D):c.16299C>T (p.Asn5433=)
|
rs975080118
|
0.00001
|
|
NM_003482.4(KMT2D):c.181G>A (p.Gly61Ser)
|
rs1938304119
|
0.00001
|
|
NM_003482.4(KMT2D):c.307C>T (p.Pro103Ser)
|
rs976882824
|
0.00001
|
|
NM_003482.4(KMT2D):c.3190G>A (p.Val1064Ile)
|
rs755939422
|
0.00001
|
|
NM_003482.4(KMT2D):c.3455C>T (p.Pro1152Leu)
|
rs765863571
|
0.00001
|
|
NM_003482.4(KMT2D):c.3896G>A (p.Arg1299His)
|
rs1266718915
|
0.00001
|
|
NM_003482.4(KMT2D):c.3982C>T (p.Arg1328Trp)
|
rs754797404
|
0.00001
|
|
NM_003482.4(KMT2D):c.4123C>T (p.Leu1375=)
|
rs1368572
|
0.00001
|
|
NM_003482.4(KMT2D):c.5782+1G>A
|
rs766123066
|
0.00001
|
|
NM_003482.4(KMT2D):c.6284G>A (p.Arg2095His)
|
rs374216845
|
0.00001
|
|
NM_003482.4(KMT2D):c.6434C>T (p.Pro2145Leu)
|
rs574231443
|
0.00001
|
|
NM_003482.4(KMT2D):c.6435G>A (p.Pro2145=)
|
rs374077422
|
0.00001
|
|
NM_003482.4(KMT2D):c.6884C>T (p.Ser2295Phe)
|
rs758685548
|
0.00001
|
|
NM_003482.4(KMT2D):c.7170G>A (p.Pro2390=)
|
rs3741625
|
0.00001
|
|
NM_003482.4(KMT2D):c.7998C>A (p.Asp2666Glu)
|
rs1258008817
|
0.00001
|
|
NM_003482.4(KMT2D):c.8288C>T (p.Pro2763Leu)
|
rs398123762
|
0.00001
|
|
NM_003482.4(KMT2D):c.941C>G (p.Ser314Cys)
|
rs1043654062
|
0.00001
|
|
NM_003560.4(PLA2G6):c.2028C>T (p.Ile676=)
|
rs561645994
|
0.00001
|
|
NM_003630.3(PEX3):c.513A>G (p.Leu171=)
|
rs769938240
|
0.00001
|
|
NM_003630.3(PEX3):c.748-4A>G
|
rs1024883914
|
0.00001
|
|
NM_003640.5(ELP1):c.2370A>G (p.Glu790=)
|
rs772114554
|
0.00001
|
|
NM_003640.5(ELP1):c.2598C>T (p.Pro866=)
|
rs773218149
|
0.00001
|
|
NM_003640.5(ELP1):c.3931+14C>G
|
rs555520875
|
0.00001
|
|
NM_003640.5(ELP1):c.93G>T (p.Gly31=)
|
rs778404648
|
0.00001
|
|
NM_003640.5(ELP1):c.959-8C>T
|
rs766511916
|
0.00001
|
|
NM_003659.4(AGPS):c.549A>G (p.Val183=)
|
rs774279058
|
0.00001
|
|
NM_003659.4(AGPS):c.891T>C (p.Cys297=)
|
rs755884284
|
0.00001
|
|
NM_003664.5(AP3B1):c.1364-11A>G
|
rs759174401
|
0.00001
|
|
NM_003664.5(AP3B1):c.1421C>T (p.Ala474Val)
|
rs191850940
|
0.00001
|
|
NM_003664.5(AP3B1):c.1890T>C (p.Ala630=)
|
rs774196917
|
0.00001
|
|
NM_003664.5(AP3B1):c.2890T>C (p.Leu964=)
|
rs750377910
|
0.00001
|
|
NM_003664.5(AP3B1):c.537-7T>A
|
rs773657171
|
0.00001
|
|
NM_003680.4(YARS1):c.391C>T (p.Leu131=)
|
rs759430430
|
0.00001
|
|
NM_003718.5(CDK13):c.3737C>T (p.Thr1246Met)
|
rs761120542
|
0.00001
|
|
NM_003722.5(TP63):c.1644C>T (p.Ser548=)
|
rs763019843
|
0.00001
|
|
NM_003737.4(DCHS1):c.973C>T (p.Arg325Trp)
|
rs758453554
|
0.00001
|
|
NM_003742.4(ABCB11):c.1350G>T (p.Met450Ile)
|
rs542821407
|
0.00001
|
|
NM_003742.4(ABCB11):c.216T>C (p.His72=)
|
rs1174260635
|
0.00001
|
|
NM_003742.4(ABCB11):c.2202A>C (p.Glu734Asp)
|
rs369865521
|
0.00001
|
|
NM_003742.4(ABCB11):c.2457C>A (p.Ala819=)
|
rs1398103963
|
0.00001
|
|
NM_003742.4(ABCB11):c.2490G>A (p.Arg830=)
|
rs775663263
|
0.00001
|
|
NM_003742.4(ABCB11):c.2628C>T (p.Ile876=)
|
rs200127070
|
0.00001
|
|
NM_003742.4(ABCB11):c.2655C>T (p.Asn885=)
|
rs756738723
|
0.00001
|
|
NM_003742.4(ABCB11):c.280G>A (p.Asp94Asn)
|
rs760920706
|
0.00001
|
|
NM_003742.4(ABCB11):c.2988T>C (p.Asn996=)
|
rs762824612
|
0.00001
|
|
NM_003742.4(ABCB11):c.3766-10C>T
|
rs369104228
|
0.00001
|
|
NM_003742.4(ABCB11):c.3768G>A (p.Thr1256=)
|
rs773371540
|
0.00001
|
|
NM_003742.4(ABCB11):c.3962G>A (p.Ser1321Asn)
|
rs201693189
|
0.00001
|
|
NM_003748.4(ALDH4A1):c.876A>G (p.Lys292=)
|
rs775591571
|
0.00001
|
|
NM_003764.4(STX11):c.570C>T (p.Ser190=)
|
rs148354227
|
0.00001
|
|
NM_003816.3(ADAM9):c.2160G>A (p.Arg720=)
|
rs536279890
|
0.00001
|
|
NM_003835.4(RGS9):c.1645C>T (p.Arg549Cys)
|
rs574696410
|
0.00001
|
|
NM_003835.4(RGS9):c.1662C>T (p.Thr554=)
|
rs200492363
|
0.00001
|
|
NM_003839.4(TNFRSF11A):c.1476G>A (p.Gln492=)
|
rs1320012238
|
0.00001
|
|
NM_003846.3(PEX11B):c.192A>G (p.Ser64=)
|
rs781844151
|
0.00001
|
|
NM_003846.3(PEX11B):c.375-7G>A
|
rs1049689144
|
0.00001
|
|
NM_003849.4(SUCLG1):c.201+8T>A
|
rs764185628
|
0.00001
|
|
NM_003850.3(SUCLA2):c.1318-15G>A
|
rs369590382
|
0.00001
|
|
NM_003850.3(SUCLA2):c.535-13C>T
|
rs372847680
|
0.00001
|
|
NM_003859.3(DPM1):c.295+7C>T
|
rs775797102
|
0.00001
|
|
NM_003859.3(DPM1):c.295+8G>A
|
rs758553918
|
0.00001
|
|
NM_003977.4(AIP):c.159C>T (p.Ser53=)
|
rs764878127
|
0.00001
|
|
NM_003977.4(AIP):c.345G>C (p.Leu115=)
|
rs996404334
|
0.00001
|
|
NM_003977.4(AIP):c.6G>A (p.Ala2=)
|
rs1865725846
|
0.00001
|
|
NM_003977.4(AIP):c.783C>T (p.Tyr261=)
|
rs267606576
|
0.00001
|
|
NM_003978.5(PSTPIP1):c.1248T>C (p.Leu416=)
|
rs556322755
|
0.00001
|
|
NM_003978.5(PSTPIP1):c.493G>A (p.Gly165Ser)
|
rs762291063
|
0.00001
|
|
NM_003978.5(PSTPIP1):c.575G>A (p.Arg192Lys)
|
rs760587319
|
0.00001
|
|
NM_003978.5(PSTPIP1):c.629G>A (p.Arg210Gln)
|
rs776576205
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1125G>C (p.Val375=)
|
rs371346432
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1497A>C (p.Gly499=)
|
rs1566438384
|
0.00001
|
|
NM_003982.4(SLC7A7):c.585G>A (p.Leu195=)
|
rs768649205
|
0.00001
|
|
NM_003982.4(SLC7A7):c.998+9G>C
|
rs1350841635
|
0.00001
|
|
NM_004004.6(GJB2):c.126G>T (p.Glu42Asp)
|
rs535635403
|
0.00001
|
|
NM_004004.6(GJB2):c.146C>T (p.Ala49Val)
|
rs1057517976
|
0.00001
|
|
NM_004004.6(GJB2):c.628T>C (p.Leu210=)
|
rs1036073348
|
0.00001
|
|
NM_004006.3(DMD):c.1058C>T (p.Ser353Leu)
|
rs374713915
|
0.00001
|
|
NM_004006.3(DMD):c.1150-4T>A
|
rs794727031
|
0.00001
|
|
NM_004006.3(DMD):c.1712T>C (p.Phe571Ser)
|
rs1326680081
|
0.00001
|
|
NM_004006.3(DMD):c.1734A>T (p.Lys578Asn)
|
rs754347572
|
0.00001
|
|
NM_004006.3(DMD):c.243G>A (p.Leu81=)
|
rs748842563
|
0.00001
|
|
NM_004006.3(DMD):c.2472C>G (p.Asn824Lys)
|
rs778811645
|
0.00001
|
|
NM_004006.3(DMD):c.2617T>C (p.Cys873Arg)
|
rs200872948
|
0.00001
|
|
NM_004006.3(DMD):c.2937C>T (p.Leu979=)
|
rs774450833
|
0.00001
|
|
NM_004006.3(DMD):c.3283G>C (p.Val1095Leu)
|
rs183819382
|
0.00001
|
|
NM_004006.3(DMD):c.3986C>T (p.Thr1329Ile)
|
rs770827878
|
0.00001
|
|
NM_004006.3(DMD):c.4775T>C (p.Met1592Thr)
|
rs398123966
|
0.00001
|
|
NM_004006.3(DMD):c.4995C>T (p.Ser1665=)
|
rs775659020
|
0.00001
|
|
NM_004006.3(DMD):c.5439T>C (p.Asn1813=)
|
rs1238738620
|
0.00001
|
|
NM_004006.3(DMD):c.554G>A (p.Ser185Asn)
|
rs1168876204
|
0.00001
|
|
NM_004006.3(DMD):c.5658T>C (p.Ala1886=)
|
rs398123994
|
0.00001
|
|
NM_004006.3(DMD):c.6151C>T (p.Arg2051Trp)
|
rs140791274
|
0.00001
|
|
NM_004006.3(DMD):c.6623A>G (p.Glu2208Gly)
|
rs139937177
|
0.00001
|
|
NM_004006.3(DMD):c.6896A>C (p.Asn2299Thr)
|
rs747055774
|
0.00001
|
|
NM_004006.3(DMD):c.7016A>G (p.His2339Arg)
|
rs398124041
|
0.00001
|
|
NM_004006.3(DMD):c.7873-6C>A
|
rs764629897
|
0.00001
|
|
NM_004006.3(DMD):c.7956T>C (p.Ser2652=)
|
rs757902182
|
0.00001
|
|
NM_004006.3(DMD):c.8083C>T (p.Pro2695Ser)
|
rs755445214
|
0.00001
|
|
NM_004006.3(DMD):c.8508C>T (p.Gly2836=)
|
rs374374549
|
0.00001
|
|
NM_004006.3(DMD):c.8705G>A (p.Arg2902Gln)
|
rs754308757
|
0.00001
|
|
NM_004006.3(DMD):c.8847G>A (p.Lys2949=)
|
rs185664502
|
0.00001
|
|
NM_004006.3(DMD):c.9051G>A (p.Leu3017=)
|
rs772255929
|
0.00001
|
|
NM_004006.3(DMD):c.9074A>G (p.Lys3025Arg)
|
rs778961643
|
0.00001
|
|
NM_004006.3(DMD):c.9478C>T (p.Arg3160Cys)
|
rs779233737
|
0.00001
|
|
NM_004006.3(DMD):c.9667G>T (p.Ala3223Ser)
|
rs1319200626
|
0.00001
|
|
NM_004035.7(ACOX1):c.1821T>C (p.Val607=)
|
rs762221413
|
0.00001
|
|
NM_004035.7(ACOX1):c.408T>C (p.Tyr136=)
|
rs779313800
|
0.00001
|
|
NM_004035.7(ACOX1):c.659-4G>A
|
rs746563980
|
0.00001
|
|
NM_004046.6(ATP5F1A):c.1176+5T>G
|
rs760107868
|
0.00001
|
|
NM_004064.5(CDKN1B):c.279G>A (p.Arg93=)
|
rs766901538
|
0.00001
|
|
NM_004086.3(COCH):c.239+5G>A
|
rs563163157
|
0.00001
|
|
NM_004086.3(COCH):c.25C>G (p.Leu9Val)
|
rs760397052
|
0.00001
|
|
NM_004100.5(EYA4):c.438-15T>C
|
rs752763979
|
0.00001
|
|
NM_004100.5(EYA4):c.723A>G (p.Pro241=)
|
rs556550485
|
0.00001
|
|
NM_004100.5(EYA4):c.888G>A (p.Ser296=)
|
rs768010410
|
0.00001
|
|
NM_004104.5(FASN):c.102G>A (p.Thr34=)
|
rs748255121
|
0.00001
|
|
NM_004104.5(FASN):c.6531C>T (p.Arg2177=)
|
rs1160132362
|
0.00001
|
|
NM_004168.4(SDHA):c.1242C>T (p.Pro414=)
|
rs777306884
|
0.00001
|
|
NM_004168.4(SDHA):c.1456C>A (p.Pro486Thr)
|
rs1060503706
|
0.00001
|
|
NM_004168.4(SDHA):c.92G>A (p.Arg31Gln)
|
rs752532780
|
0.00001
|
|
NM_004171.4(SLC1A2):c.1422-6C>G
|
rs1453510369
|
0.00001
|
|
NM_004187.5(KDM5C):c.3020G>A (p.Arg1007His)
|
rs1556836492
|
0.00001
|
|
NM_004211.5(SLC6A5):c.4-11T>C
|
rs774039277
|
0.00001
|
|
NM_004239.4(TRIP11):c.5571T>C (p.Asn1857=)
|
rs369316409
|
0.00001
|
|
NM_004239.4(TRIP11):c.5607A>G (p.Glu1869=)
|
rs764596712
|
0.00001
|
|
NM_004239.4(TRIP11):c.5811A>C (p.Gly1937=)
|
rs748645116
|
0.00001
|
|
NM_004260.4(RECQL4):c.2585C>T (p.Ser862Leu)
|
rs781636798
|
0.00001
|
|
NM_004260.4(RECQL4):c.2885+5G>A
|
rs750560547
|
0.00001
|
|
NM_004268.5(MED17):c.390C>G (p.Val130=)
|
rs769907044
|
0.00001
|
|
NM_004281.4(BAG3):c.1418G>A (p.Arg473Gln)
|
rs150156178
|
0.00001
|
|
NM_004281.4(BAG3):c.1447G>A (p.Gly483Ser)
|
rs570294713
|
0.00001
|
|
NM_004281.4(BAG3):c.1571T>C (p.Ile524Thr)
|
rs752390475
|
0.00001
|
|
NM_004281.4(BAG3):c.1651C>A (p.Gln551Lys)
|
rs577455773
|
0.00001
|
|
NM_004281.4(BAG3):c.465A>G (p.Ala155=)
|
rs775151738
|
0.00001
|
|
NM_004281.4(BAG3):c.67C>T (p.Pro23Ser)
|
rs747846089
|
0.00001
|
|
NM_004304.5(ALK):c.1067A>G (p.Gln356Arg)
|
rs773367495
|
0.00001
|
|
NM_004304.5(ALK):c.107C>T (p.Pro36Leu)
|
rs773691688
|
0.00001
|
|
NM_004304.5(ALK):c.1155T>C (p.Gly385=)
|
rs369505500
|
0.00001
|
|
NM_004304.5(ALK):c.1219A>C (p.Ile407Leu)
|
rs765139446
|
0.00001
|
|
NM_004304.5(ALK):c.140C>T (p.Ser47Leu)
|
rs541315214
|
0.00001
|
|
NM_004304.5(ALK):c.1547A>G (p.Asp516Gly)
|
rs761724656
|
0.00001
|
|
NM_004304.5(ALK):c.1720G>A (p.Gly574Arg)
|
rs762358335
|
0.00001
|
|
NM_004304.5(ALK):c.1833G>A (p.Met611Ile)
|
rs1302907379
|
0.00001
|
|
NM_004304.5(ALK):c.1908C>G (p.Leu636=)
|
rs1268649558
|
0.00001
|
|
NM_004304.5(ALK):c.2040A>G (p.Thr680=)
|
rs748335936
|
0.00001
|
|
NM_004304.5(ALK):c.2304T>C (p.Asp768=)
|
rs758649392
|
0.00001
|
|
NM_004304.5(ALK):c.254C>T (p.Pro85Leu)
|
rs748100651
|
0.00001
|
|
NM_004304.5(ALK):c.2560G>A (p.Asp854Asn)
|
rs189078025
|
0.00001
|
|
NM_004304.5(ALK):c.3236A>C (p.Lys1079Thr)
|
rs754163075
|
0.00001
|
|
NM_004304.5(ALK):c.3366G>A (p.Leu1122=)
|
rs758871506
|
0.00001
|
|
NM_004304.5(ALK):c.3744-5C>T
|
rs750800690
|
0.00001
|
|
NM_004304.5(ALK):c.3839C>T (p.Ala1280Val)
|
rs74716434
|
0.00001
|
|
NM_004304.5(ALK):c.3842G>A (p.Ser1281Asn)
|
rs761459938
|
0.00001
|
|
NM_004304.5(ALK):c.415A>G (p.Lys139Glu)
|
rs749530596
|
0.00001
|
|
NM_004304.5(ALK):c.4237G>A (p.Val1413Met)
|
rs560530815
|
0.00001
|
|
NM_004304.5(ALK):c.4307G>A (p.Arg1436His)
|
rs544926207
|
0.00001
|
|
NM_004304.5(ALK):c.4344C>T (p.Ser1448=)
|
rs886055929
|
0.00001
|
|
NM_004304.5(ALK):c.4411G>A (p.Val1471Met)
|
rs201759867
|
0.00001
|
|
NM_004304.5(ALK):c.4608G>A (p.Glu1536=)
|
rs147241767
|
0.00001
|
|
NM_004304.5(ALK):c.4809T>C (p.His1603=)
|
rs758502850
|
0.00001
|
|
NM_004304.5(ALK):c.709T>C (p.Ser237Pro)
|
rs757916299
|
0.00001
|
|
NM_004304.5(ALK):c.775C>T (p.Arg259Cys)
|
rs771593278
|
0.00001
|
|
NM_004304.5(ALK):c.84C>T (p.Arg28=)
|
rs1355709394
|
0.00001
|
|
NM_004320.6(ATP2A1):c.450C>T (p.Ile150=)
|
rs781369773
|
0.00001
|
|
NM_004329.3(BMPR1A):c.-6T>C
|
rs1047677696
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1059A>G (p.Gln353=)
|
rs1060503407
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1081C>G (p.Arg361Gly)
|
rs764466442
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1324C>T (p.Arg442Cys)
|
rs587782496
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1343-3T>C
|
rs771504880
|
0.00001
|
|
NM_004329.3(BMPR1A):c.1432C>T (p.Arg478Cys)
|
rs372178531
|
0.00001
|
|
NM_004329.3(BMPR1A):c.22A>G (p.Ile8Val)
|
rs863224719
|
0.00001
|
|
NM_004329.3(BMPR1A):c.562C>T (p.Arg188Cys)
|
rs879254272
|
0.00001
|
|
NM_004329.3(BMPR1A):c.59G>A (p.Arg20His)
|
rs759014147
|
0.00001
|
|
NM_004329.3(BMPR1A):c.634C>A (p.Gln212Lys)
|
rs876658138
|
0.00001
|
|
NM_004329.3(BMPR1A):c.676G>T (p.Val226Phe)
|
rs587780110
|
0.00001
|
|
NM_004329.3(BMPR1A):c.713G>A (p.Arg238Gln)
|
rs191742018
|
0.00001
|
|
NM_004329.3(BMPR1A):c.749T>C (p.Met250Thr)
|
rs587780783
|
0.00001
|
|
NM_004329.3(BMPR1A):c.74A>G (p.Asn25Ser)
|
rs1060503410
|
0.00001
|
|
NM_004329.3(BMPR1A):c.869-4A>C
|
rs964020576
|
0.00001
|
|
NM_004329.3(BMPR1A):c.987A>C (p.Arg329Ser)
|
rs753521037
|
0.00001
|
|
NM_004333.6(BRAF):c.1027C>T (p.Pro343Ser)
|
rs758935249
|
0.00001
|
|
NM_004333.6(BRAF):c.1305G>A (p.Arg435=)
|
rs763771673
|
0.00001
|
|
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln)
|
rs557241012
|
0.00001
|
|
NM_004341.5(CAD):c.4860+6A>T
|
rs1461244817
|
0.00001
|
|
NM_004357.5(CD151):c.379A>C (p.Lys127Gln)
|
rs559057238
|
0.00001
|
|
NM_004360.5(CDH1):c.1008+4del
|
rs746392709
|
0.00001
|
|
NM_004360.5(CDH1):c.1009-14C>T
|
rs368293695
|
0.00001
|
|
NM_004360.5(CDH1):c.1132A>C (p.Thr378Pro)
|
rs587781432
|
0.00001
|
|
NM_004360.5(CDH1):c.1138-10T>C
|
rs758324153
|
0.00001
|
|
NM_004360.5(CDH1):c.1138-13C>G
|
rs1399457483
|
0.00001
|
|
NM_004360.5(CDH1):c.1138-15C>G
|
rs752733398
|
0.00001
|
|
NM_004360.5(CDH1):c.1149G>C (p.Gln383His)
|
rs786202510
|
0.00001
|
|
NM_004360.5(CDH1):c.1171G>A (p.Val391Ile)
|
rs556110297
|
0.00001
|
|
NM_004360.5(CDH1):c.1214A>G (p.Asn405Ser)
|
rs587778175
|
0.00001
|
|
NM_004360.5(CDH1):c.1243A>G (p.Ile415Val)
|
rs1060501239
|
0.00001
|
|
NM_004360.5(CDH1):c.1250A>G (p.Asn417Ser)
|
rs773441320
|
0.00001
|
|
NM_004360.5(CDH1):c.1334A>C (p.Glu445Ala)
|
rs374398608
|
0.00001
|
|
NM_004360.5(CDH1):c.1351A>C (p.Ile451Leu)
|
rs377416092
|
0.00001
|
|
NM_004360.5(CDH1):c.1370C>T (p.Thr457Met)
|
rs587778170
|
0.00001
|
|
NM_004360.5(CDH1):c.147C>T (p.Gly49=)
|
rs1057521592
|
0.00001
|
|
NM_004360.5(CDH1):c.1493A>C (p.Asp498Ala)
|
rs876661065
|
0.00001
|
|
NM_004360.5(CDH1):c.1500C>T (p.Gly500=)
|
rs781317341
|
0.00001
|
|
NM_004360.5(CDH1):c.150C>A (p.Arg50=)
|
rs786201262
|
0.00001
|
|
NM_004360.5(CDH1):c.1526C>A (p.Thr509Asn)
|
rs771551231
|
0.00001
|
|
NM_004360.5(CDH1):c.1566-7C>T
|
rs747783435
|
0.00001
|
|
NM_004360.5(CDH1):c.1634G>T (p.Arg545Leu)
|
rs587780115
|
0.00001
|
|
NM_004360.5(CDH1):c.1773C>T (p.Asn591=)
|
rs373719554
|
0.00001
|
|
NM_004360.5(CDH1):c.1842C>T (p.Ile614=)
|
rs773368593
|
0.00001
|
|
NM_004360.5(CDH1):c.1929C>T (p.Asn643=)
|
rs374152504
|
0.00001
|
|
NM_004360.5(CDH1):c.1936A>G (p.Thr646Ala)
|
rs771064558
|
0.00001
|
|
NM_004360.5(CDH1):c.2026G>A (p.Asp676Asn)
|
rs115408226
|
0.00001
|
|
NM_004360.5(CDH1):c.2053G>A (p.Val685Met)
|
rs550612843
|
0.00001
|
|
NM_004360.5(CDH1):c.2091G>A (p.Lys697=)
|
rs61747635
|
0.00001
|
|
NM_004360.5(CDH1):c.2164+3A>G
|
rs750651204
|
0.00001
|
|
NM_004360.5(CDH1):c.2179C>T (p.Leu727Phe)
|
rs578069093
|
0.00001
|
|
NM_004360.5(CDH1):c.2261A>G (p.Tyr754Cys)
|
rs767613429
|
0.00001
|
|
NM_004360.5(CDH1):c.2318A>G (p.His773Arg)
|
rs587782823
|
0.00001
|
|
NM_004360.5(CDH1):c.2322G>A (p.Arg774=)
|
rs150734856
|
0.00001
|
|
NM_004360.5(CDH1):c.2369C>T (p.Thr790Ile)
|
rs587780120
|
0.00001
|
|
NM_004360.5(CDH1):c.2505T>C (p.Tyr835=)
|
rs786202613
|
0.00001
|
|
NM_004360.5(CDH1):c.2515G>A (p.Gly839Ser)
|
rs587780121
|
0.00001
|
|
NM_004360.5(CDH1):c.2542C>T (p.Leu848=)
|
rs1567517746
|
0.00001
|
|
NM_004360.5(CDH1):c.2603G>A (p.Arg868His)
|
rs369126891
|
0.00001
|
|
NM_004360.5(CDH1):c.2638G>A (p.Glu880Lys)
|
rs34507583
|
0.00001
|
|
NM_004360.5(CDH1):c.27G>A (p.Ser9=)
|
rs786201257
|
0.00001
|
|
NM_004360.5(CDH1):c.286A>G (p.Ile96Val)
|
rs749306433
|
0.00001
|
|
NM_004360.5(CDH1):c.370C>T (p.Arg124Cys)
|
rs748086082
|
0.00001
|
|
NM_004360.5(CDH1):c.387+6T>C
|
rs764434962
|
0.00001
|
|
NM_004360.5(CDH1):c.462A>G (p.Arg154=)
|
rs1057520261
|
0.00001
|
|
NM_004360.5(CDH1):c.49-8C>A
|
rs774761552
|
0.00001
|
|
NM_004360.5(CDH1):c.724G>A (p.Val242Ile)
|
rs111662525
|
0.00001
|
|
NM_004360.5(CDH1):c.731A>G (p.Asp244Gly)
|
rs1064794231
|
0.00001
|
|
NM_004360.5(CDH1):c.794A>T (p.Glu265Val)
|
rs587782728
|
0.00001
|
|
NM_004360.5(CDH1):c.901G>A (p.Ala301Thr)
|
rs749056300
|
0.00001
|
|
NM_004369.4(COL6A3):c.1022G>A (p.Arg341His)
|
rs140510298
|
0.00001
|
|
NM_004369.4(COL6A3):c.1080C>T (p.Asp360=)
|
rs762463347
|
0.00001
|
|
NM_004369.4(COL6A3):c.2674G>A (p.Glu892Lys)
|
rs760380736
|
0.00001
|
|
NM_004369.4(COL6A3):c.3198C>T (p.Arg1066=)
|
rs200621867
|
0.00001
|
|
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn)
|
rs778403814
|
0.00001
|
|
NM_004369.4(COL6A3):c.3617C>T (p.Thr1206Ile)
|
rs949598599
|
0.00001
|
|
NM_004369.4(COL6A3):c.3668T>C (p.Leu1223Pro)
|
rs772944531
|
0.00001
|
|
NM_004369.4(COL6A3):c.575C>T (p.Pro192Leu)
|
rs563800854
|
0.00001
|
|
NM_004369.4(COL6A3):c.6156+5G>A
|
rs112374074
|
0.00001
|
|
NM_004369.4(COL6A3):c.6754-9C>G
|
rs886038542
|
0.00001
|
|
NM_004369.4(COL6A3):c.7029+3A>G
|
rs886044464
|
0.00001
|
|
NM_004369.4(COL6A3):c.8256G>A (p.Leu2752=)
|
rs769124771
|
0.00001
|
|
NM_004369.4(COL6A3):c.8584G>A (p.Val2862Ile)
|
rs371745862
|
0.00001
|
|
NM_004370.6(COL12A1):c.118A>G (p.Thr40Ala)
|
rs201343487
|
0.00001
|
|
NM_004370.6(COL12A1):c.2396G>A (p.Gly799Glu)
|
rs772979149
|
0.00001
|
|
NM_004370.6(COL12A1):c.3856C>T (p.Arg1286Cys)
|
rs764448554
|
0.00001
|
|
NM_004370.6(COL12A1):c.5134G>A (p.Glu1712Lys)
|
rs778415707
|
0.00001
|
|
NM_004370.6(COL12A1):c.5957C>T (p.Thr1986Met)
|
rs768824483
|
0.00001
|
|
NM_004370.6(COL12A1):c.7024G>A (p.Val2342Ile)
|
rs745852751
|
0.00001
|
|
NM_004370.6(COL12A1):c.7816C>T (p.Pro2606Ser)
|
rs994920789
|
0.00001
|
|
NM_004370.6(COL12A1):c.8812C>T (p.Arg2938Cys)
|
rs778941390
|
0.00001
|
|
NM_004371.4(COPA):c.2809G>A (p.Glu937Lys)
|
rs552778606
|
0.00001
|
|
NM_004371.4(COPA):c.2993C>T (p.Ala998Val)
|
rs761919408
|
0.00001
|
|
NM_004380.3(CREBBP):c.2557C>A (p.Leu853Met)
|
rs542970560
|
0.00001
|
|
NM_004380.3(CREBBP):c.2943A>G (p.Ala981=)
|
rs1053049323
|
0.00001
|
|
NM_004380.3(CREBBP):c.3485A>G (p.Asn1162Ser)
|
rs148166625
|
0.00001
|
|
NM_004380.3(CREBBP):c.504G>A (p.Thr168=)
|
rs373310969
|
0.00001
|
|
NM_004380.3(CREBBP):c.62G>A (p.Gly21Asp)
|
rs1211983012
|
0.00001
|
|
NM_004380.3(CREBBP):c.6449C>T (p.Pro2150Leu)
|
rs587783512
|
0.00001
|
|
NM_004385.5(VCAN):c.5902C>G (p.Gln1968Glu)
|
rs775630677
|
0.00001
|
|
NM_004387.4(NKX2-5):c.111G>A (p.Leu37=)
|
rs746594822
|
0.00001
|
|
NM_004393.6(DAG1):c.2652C>A (p.Thr884=)
|
rs762428862
|
0.00001
|
|
NM_004393.6(DAG1):c.498G>A (p.Ser166=)
|
rs794727500
|
0.00001
|
|
NM_004407.4(DMP1):c.402G>A (p.Leu134=)
|
rs780110476
|
0.00001
|
|
NM_004415.4(DSP):c.1016A>G (p.Asn339Ser)
|
rs746245682
|
0.00001
|
|
NM_004415.4(DSP):c.1262T>C (p.Leu421Pro)
|
rs763523373
|
0.00001
|
|
NM_004415.4(DSP):c.1274G>A (p.Arg425Gln)
|
rs397516916
|
0.00001
|
|
NM_004415.4(DSP):c.1279A>G (p.Lys427Glu)
|
rs1430756602
|
0.00001
|
|
NM_004415.4(DSP):c.1323G>C (p.Lys441Asn)
|
rs1037212969
|
0.00001
|
|
NM_004415.4(DSP):c.145A>G (p.Thr49Ala)
|
rs142059019
|
0.00001
|
|
NM_004415.4(DSP):c.1468C>T (p.Arg490Cys)
|
rs781084693
|
0.00001
|
|
NM_004415.4(DSP):c.1564C>G (p.Leu522Val)
|
rs1230995902
|
0.00001
|
|
NM_004415.4(DSP):c.1575-16C>G
|
rs756806835
|
0.00001
|
|
NM_004415.4(DSP):c.171-4T>C
|
rs1554105598
|
0.00001
|
|
NM_004415.4(DSP):c.1730T>C (p.Met577Thr)
|
rs141956992
|
0.00001
|
|
NM_004415.4(DSP):c.1960G>A (p.Val654Ile)
|
rs375629257
|
0.00001
|
|
NM_004415.4(DSP):c.2030G>A (p.Arg677Lys)
|
rs749238502
|
0.00001
|
|
NM_004415.4(DSP):c.2071C>T (p.Leu691Phe)
|
rs1363445022
|
0.00001
|
|
NM_004415.4(DSP):c.2131-5G>C
|
rs767939332
|
0.00001
|
|
NM_004415.4(DSP):c.2377G>A (p.Glu793Lys)
|
rs755067397
|
0.00001
|
|
NM_004415.4(DSP):c.2423G>A (p.Arg808His)
|
rs372906646
|
0.00001
|
|
NM_004415.4(DSP):c.2666G>A (p.Arg889Lys)
|
rs762341335
|
0.00001
|
|
NM_004415.4(DSP):c.2689G>C (p.Ala897Pro)
|
rs1008407158
|
0.00001
|
|
NM_004415.4(DSP):c.2822G>A (p.Arg941Gln)
|
rs759869347
|
0.00001
|
|
NM_004415.4(DSP):c.2850T>G (p.Ile950Met)
|
rs727502999
|
0.00001
|
|
NM_004415.4(DSP):c.2858T>C (p.Leu953Pro)
|
rs745641212
|
0.00001
|
|
NM_004415.4(DSP):c.2872A>G (p.Ile958Val)
|
rs377116090
|
0.00001
|
|
NM_004415.4(DSP):c.2878-4G>A
|
rs758303966
|
0.00001
|
|
NM_004415.4(DSP):c.2959T>A (p.Ser987Thr)
|
rs397516929
|
0.00001
|
|
NM_004415.4(DSP):c.3004C>T (p.Arg1002Trp)
|
rs772551736
|
0.00001
|
|
NM_004415.4(DSP):c.308G>A (p.Arg103Gln)
|
rs775015862
|
0.00001
|
|
NM_004415.4(DSP):c.314G>A (p.Arg105Gln)
|
rs762238621
|
0.00001
|
|
NM_004415.4(DSP):c.3550C>T (p.Arg1184Trp)
|
rs761331634
|
0.00001
|
|
NM_004415.4(DSP):c.3601G>A (p.Glu1201Lys)
|
rs751566392
|
0.00001
|
|
NM_004415.4(DSP):c.3701A>G (p.Asn1234Ser)
|
rs185367490
|
0.00001
|
|
NM_004415.4(DSP):c.385C>T (p.Arg129Trp)
|
rs777763456
|
0.00001
|
|
NM_004415.4(DSP):c.4046G>A (p.Ser1349Asn)
|
rs144465638
|
0.00001
|
|
NM_004415.4(DSP):c.4103C>T (p.Thr1368Ile)
|
rs530481219
|
0.00001
|
|
NM_004415.4(DSP):c.4303G>C (p.Ala1435Pro)
|
rs751972271
|
0.00001
|
|
NM_004415.4(DSP):c.4526G>A (p.Arg1509Lys)
|
rs577061462
|
0.00001
|
|
NM_004415.4(DSP):c.4621G>A (p.Asp1541Asn)
|
rs750607476
|
0.00001
|
|
NM_004415.4(DSP):c.4671G>A (p.Thr1557=)
|
rs367767551
|
0.00001
|
|
NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro)
|
rs749730642
|
0.00001
|
|
NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr)
|
rs757753880
|
0.00001
|
|
NM_004415.4(DSP):c.5123C>T (p.Ser1708Phe)
|
rs372452104
|
0.00001
|
|
NM_004415.4(DSP):c.5217C>T (p.Ser1739=)
|
rs748263306
|
0.00001
|
|
NM_004415.4(DSP):c.5283C>T (p.Asn1761=)
|
rs763355815
|
0.00001
|
|
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr)
|
rs562015789
|
0.00001
|
|
NM_004415.4(DSP):c.5649G>A (p.Ser1883=)
|
rs760974941
|
0.00001
|
|
NM_004415.4(DSP):c.5820T>C (p.Asp1940=)
|
rs763026647
|
0.00001
|
|
NM_004415.4(DSP):c.5959G>A (p.Asp1987Asn)
|
rs759443302
|
0.00001
|
|
NM_004415.4(DSP):c.598-5C>T
|
rs765653540
|
0.00001
|
|
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln)
|
rs557263443
|
0.00001
|
|
NM_004415.4(DSP):c.6233T>C (p.Ile2078Thr)
|
rs377035113
|
0.00001
|
|
NM_004415.4(DSP):c.6367C>T (p.Arg2123Cys)
|
rs372242085
|
0.00001
|
|
NM_004415.4(DSP):c.6550G>A (p.Val2184Met)
|
rs774832931
|
0.00001
|
|
NM_004415.4(DSP):c.664C>T (p.Arg222Trp)
|
rs1233981969
|
0.00001
|
|
NM_004415.4(DSP):c.6689C>T (p.Pro2230Leu)
|
rs759982048
|
0.00001
|
|
NM_004415.4(DSP):c.6812A>C (p.Lys2271Thr)
|
rs730880089
|
0.00001
|
|
NM_004415.4(DSP):c.6902T>C (p.Ile2301Thr)
|
rs772381363
|
0.00001
|
|
NM_004415.4(DSP):c.6947A>G (p.Tyr2316Cys)
|
rs765245807
|
0.00001
|
|
NM_004415.4(DSP):c.6968T>C (p.Ile2323Thr)
|
rs777901747
|
0.00001
|
|
NM_004415.4(DSP):c.7551G>A (p.Val2517=)
|
rs754127386
|
0.00001
|
|
NM_004415.4(DSP):c.7745T>G (p.Phe2582Cys)
|
rs751712837
|
0.00001
|
|
NM_004415.4(DSP):c.7810A>G (p.Ile2604Val)
|
rs1301635888
|
0.00001
|
|
NM_004415.4(DSP):c.7994C>T (p.Thr2665Met)
|
rs151309106
|
0.00001
|
|
NM_004415.4(DSP):c.8050A>G (p.Met2684Val)
|
rs147801650
|
0.00001
|
|
NM_004415.4(DSP):c.8087T>C (p.Ile2696Thr)
|
rs1415854040
|
0.00001
|
|
NM_004415.4(DSP):c.8133G>T (p.Glu2711Asp)
|
rs375348086
|
0.00001
|
|
NM_004415.4(DSP):c.8159A>T (p.Tyr2720Phe)
|
rs367972703
|
0.00001
|
|
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His)
|
rs201397978
|
0.00001
|
|
NM_004415.4(DSP):c.8278G>A (p.Ala2760Thr)
|
rs991726607
|
0.00001
|
|
NM_004415.4(DSP):c.8476C>T (p.Arg2826Cys)
|
rs139969658
|
0.00001
|
|
NM_004415.4(DSP):c.8498C>G (p.Ser2833Cys)
|
rs767961179
|
0.00001
|
|
NM_004415.4(DSP):c.8529T>C (p.Ser2843=)
|
rs780005300
|
0.00001
|
|
NM_004415.4(DSP):c.8566T>A (p.Ser2856Thr)
|
rs148550678
|
0.00001
|
|
NM_004415.4(DSP):c.946A>G (p.Met316Val)
|
rs201672777
|
0.00001
|
|
NM_004415.4(DSP):c.976C>T (p.Leu326Phe)
|
rs117961973
|
0.00001
|
|
NM_004415.4(DSP):c.9C>T (p.Cys3=)
|
rs769032973
|
0.00001
|
|
NM_004453.4(ETFDH):c.12G>A (p.Pro4=)
|
rs373776053
|
0.00001
|
|
NM_004453.4(ETFDH):c.1530C>T (p.Pro510=)
|
rs754795292
|
0.00001
|
|
NM_004453.4(ETFDH):c.1653G>A (p.Ser551=)
|
rs1408118210
|
0.00001
|
|
NM_004453.4(ETFDH):c.1668C>T (p.Pro556=)
|
rs747312700
|
0.00001
|
|
NM_004453.4(ETFDH):c.1758T>C (p.Cys586=)
|
rs755342205
|
0.00001
|
|
NM_004453.4(ETFDH):c.414T>G (p.Leu138=)
|
rs751256504
|
0.00001
|
|
NM_004463.3(FGD1):c.714C>T (p.Pro238=)
|
rs747008412
|
0.00001
|
|
NM_004482.4(GALNT3):c.591G>A (p.Ala197=)
|
rs766232837
|
0.00001
|
|
NM_004484.4(GPC3):c.171G>A (p.Val57=)
|
rs398124166
|
0.00001
|
|
NM_004493.3(HSD17B10):c.286G>A (p.Val96Met)
|
rs965610533
|
0.00001
|
|
NM_004519.4(KCNQ3):c.1800-12G>A
|
rs761923188
|
0.00001
|
|
NM_004519.4(KCNQ3):c.2146G>C (p.Asp716His)
|
rs149324120
|
0.00001
|
|
NM_004519.4(KCNQ3):c.35C>T (p.Ala12Val)
|
rs796052672
|
0.00001
|
|
NM_004519.4(KCNQ3):c.604+10G>T
|
rs541587196
|
0.00001
|
|
NM_004525.3(LRP2):c.2599A>G (p.Thr867Ala)
|
rs143822500
|
0.00001
|
|
NM_004525.3(LRP2):c.5867T>G (p.Leu1956Arg)
|
rs756470766
|
0.00001
|
|
NM_004526.4(MCM2):c.1092C>G (p.Asn364Lys)
|
rs200752349
|
0.00001
|
|
NM_004553.6(NDUFS6):c.133-4C>T
|
rs754448417
|
0.00001
|
|
NM_004560.4(ROR2):c.1054A>G (p.Ser352Gly)
|
rs569242465
|
0.00001
|
|
NM_004563.4(PCK2):c.150C>T (p.His50=)
|
rs754970464
|
0.00001
|
|
NM_004608.4(TBX6):c.298C>T (p.Leu100=)
|
rs759383268
|
0.00001
|
|
NM_004612.4(TGFBR1):c.1256-3C>T
|
rs755431191
|
0.00001
|
|
NM_004612.4(TGFBR1):c.666A>G (p.Gly222=)
|
rs886063223
|
0.00001
|
|
NM_004612.4(TGFBR1):c.97+14C>T
|
rs1198082830
|
0.00001
|
|
NM_004628.5(XPC):c.900T>C (p.His300=)
|
rs929649978
|
0.00001
|
|
NM_004629.2(FANCG):c.1662G>A (p.Leu554=)
|
rs750982155
|
0.00001
|
|
NM_004655.4(AXIN2):c.1284C>A (p.Ser428=)
|
rs750126379
|
0.00001
|
|
NM_004655.4(AXIN2):c.13A>G (p.Met5Val)
|
rs148691166
|
0.00001
|
|
NM_004655.4(AXIN2):c.1494C>T (p.Pro498=)
|
rs1353761854
|
0.00001
|
|
NM_004655.4(AXIN2):c.1510G>C (p.Gly504Arg)
|
rs757512425
|
0.00001
|
|
NM_004655.4(AXIN2):c.1531A>T (p.Thr511Ser)
|
rs376936740
|
0.00001
|
|
NM_004655.4(AXIN2):c.1713C>T (p.Gly571=)
|
rs761978806
|
0.00001
|
|
NM_004655.4(AXIN2):c.1780G>A (p.Ala594Thr)
|
rs876660965
|
0.00001
|
|
NM_004655.4(AXIN2):c.2100C>T (p.Ala700=)
|
rs1057522521
|
0.00001
|
|
NM_004655.4(AXIN2):c.21G>A (p.Val7=)
|
rs1467193033
|
0.00001
|
|
NM_004655.4(AXIN2):c.2405+7G>A
|
rs373593841
|
0.00001
|
|
NM_004655.4(AXIN2):c.2487G>A (p.Pro829=)
|
rs768793839
|
0.00001
|
|
NM_004655.4(AXIN2):c.33G>A (p.Pro11=)
|
rs768626471
|
0.00001
|
|
NM_004655.4(AXIN2):c.414C>T (p.Tyr138=)
|
rs878854730
|
0.00001
|
|
NM_004655.4(AXIN2):c.558C>T (p.Ala186=)
|
rs1598119456
|
0.00001
|
|
NM_004655.4(AXIN2):c.598G>A (p.Val200Met)
|
rs752081909
|
0.00001
|
|
NM_004655.4(AXIN2):c.652C>G (p.Leu218Val)
|
rs766935285
|
0.00001
|
|
NM_004655.4(AXIN2):c.721T>G (p.Cys241Gly)
|
rs370549410
|
0.00001
|
|
NM_004656.4(BAP1):c.1052C>T (p.Thr351Ile)
|
rs1291142030
|
0.00001
|
|
NM_004656.4(BAP1):c.1081C>T (p.Leu361=)
|
rs1460743052
|
0.00001
|
|
NM_004656.4(BAP1):c.1166G>A (p.Arg389His)
|
rs770778299
|
0.00001
|
|
NM_004656.4(BAP1):c.1179G>T (p.Gln393His)
|
rs771803950
|
0.00001
|
|
NM_004656.4(BAP1):c.1208A>G (p.Asp403Gly)
|
rs746308215
|
0.00001
|
|
NM_004656.4(BAP1):c.123-3C>T
|
rs543305514
|
0.00001
|
|
NM_004656.4(BAP1):c.1331C>T (p.Thr444Ile)
|
rs1290996849
|
0.00001
|
|
NM_004656.4(BAP1):c.1393A>G (p.Ile465Val)
|
rs150029305
|
0.00001
|
|
NM_004656.4(BAP1):c.1421C>T (p.Pro474Leu)
|
rs770422186
|
0.00001
|
|
NM_004656.4(BAP1):c.1555C>T (p.Pro519Ser)
|
rs759622893
|
0.00001
|
|
NM_004656.4(BAP1):c.1651C>T (p.Arg551Cys)
|
rs755664216
|
0.00001
|
|
NM_004656.4(BAP1):c.177G>A (p.Arg59=)
|
rs770446947
|
0.00001
|
|
NM_004656.4(BAP1):c.1820C>T (p.Thr607Met)
|
rs770654975
|
0.00001
|
|
NM_004656.4(BAP1):c.1825A>G (p.Ser609Gly)
|
rs1313950203
|
0.00001
|
|
NM_004656.4(BAP1):c.256-3C>A
|
rs752536342
|
0.00001
|
|
NM_004656.4(BAP1):c.341G>A (p.Arg114His)
|
rs773494626
|
0.00001
|
|
NM_004656.4(BAP1):c.581-4C>T
|
rs1578225974
|
0.00001
|
|
NM_004656.4(BAP1):c.581-6C>T
|
rs754576458
|
0.00001
|
|
NM_004656.4(BAP1):c.67+5G>C
|
rs1033651300
|
0.00001
|
|
NM_004656.4(BAP1):c.783+2T>C
|
rs774730309
|
0.00001
|
|
NM_004656.4(BAP1):c.860C>T (p.Ser287Leu)
|
rs1270986936
|
0.00001
|
|
NM_004656.4(BAP1):c.947C>T (p.Ala316Val)
|
rs1365625070
|
0.00001
|
|
NM_004700.4(KCNQ4):c.2006A>G (p.His669Arg)
|
rs749565877
|
0.00001
|
|
NM_004817.4(TJP2):c.1056+8G>C
|
rs779964139
|
0.00001
|
|
NM_004817.4(TJP2):c.2239T>C (p.Leu747=)
|
rs886043789
|
0.00001
|
|
NM_004817.4(TJP2):c.3076G>A (p.Glu1026Lys)
|
rs201202451
|
0.00001
|
|
NM_004817.4(TJP2):c.3372G>A (p.Thr1124=)
|
rs745427593
|
0.00001
|
|
NM_004817.4(TJP2):c.3522C>G (p.Ser1174=)
|
rs761272308
|
0.00001
|
|
NM_004817.4(TJP2):c.61-7267A>G
|
rs896087137
|
0.00001
|
|
NM_004817.4(TJP2):c.853C>T (p.Arg285Cys)
|
rs546327568
|
0.00001
|
|
NM_004817.4(TJP2):c.966G>T (p.Arg322=)
|
rs199857597
|
0.00001
|
|
NM_004820.5(CYP7B1):c.339A>G (p.Val113=)
|
rs770923196
|
0.00001
|
|
NM_004820.5(CYP7B1):c.999A>G (p.Lys333=)
|
rs746555297
|
0.00001
|
|
NM_004836.7(EIF2AK3):c.270G>C (p.Pro90=)
|
rs762693700
|
0.00001
|
|
NM_004839.4(HOMER2):c.33G>A (p.Ala11=)
|
rs201522712
|
0.00001
|
|
NM_004937.3(CTNS):c.270A>T (p.Thr90=)
|
rs754247532
|
0.00001
|
|
NM_004937.3(CTNS):c.612C>T (p.Asn204=)
|
rs200170842
|
0.00001
|
|
NM_004937.3(CTNS):c.897T>C (p.Ile299=)
|
rs199824920
|
0.00001
|
|
NM_004958.4(MTOR):c.2581T>C (p.Tyr861His)
|
rs1023010218
|
0.00001
|
|
NM_004958.4(MTOR):c.3405G>A (p.Ala1135=)
|
rs750981339
|
0.00001
|
|
NM_004958.4(MTOR):c.6107G>A (p.Arg2036His)
|
rs1642913016
|
0.00001
|
|
NM_004958.4(MTOR):c.6169A>G (p.Met2057Val)
|
rs1010993658
|
0.00001
|
|
NM_004975.4(KCNB1):c.1936G>A (p.Ala646Thr)
|
rs1447311755
|
0.00001
|
|
NM_004975.4(KCNB1):c.1963G>A (p.Glu655Lys)
|
rs769948178
|
0.00001
|
|
NM_004982.4(KCNJ8):c.720G>A (p.Val240=)
|
rs876661349
|
0.00001
|
|
NM_004984.4(KIF5A):c.1082C>T (p.Ala361Val)
|
rs121434444
|
0.00001
|
|
NM_004984.4(KIF5A):c.1311A>G (p.Gln437=)
|
rs770297402
|
0.00001
|
|
NM_004984.4(KIF5A):c.2183T>C (p.Ile728Thr)
|
rs757751684
|
0.00001
|
|
NM_004984.4(KIF5A):c.2546G>A (p.Arg849His)
|
rs765503816
|
0.00001
|
|
NM_004984.4(KIF5A):c.2993-6C>T
|
rs1057522322
|
0.00001
|
|
NM_004984.4(KIF5A):c.3032C>T (p.Pro1011Leu)
|
rs751496558
|
0.00001
|
|
NM_004990.4(MARS1):c.1422G>C (p.Trp474Cys)
|
rs781462684
|
0.00001
|
|
NM_004990.4(MARS1):c.1445C>T (p.Thr482Ile)
|
rs1173899198
|
0.00001
|
|
NM_005005.3(NDUFB9):c.530G>A (p.Arg177Gln)
|
rs780144498
|
0.00001
|
|
NM_005045.4(RELN):c.1480A>G (p.Ile494Val)
|
rs372015884
|
0.00001
|
|
NM_005045.4(RELN):c.1796G>A (p.Arg599His)
|
rs201371180
|
0.00001
|
|
NM_005045.4(RELN):c.1913C>T (p.Pro638Leu)
|
rs114993407
|
0.00001
|
|
NM_005045.4(RELN):c.4441A>G (p.Lys1481Glu)
|
rs896069835
|
0.00001
|
|
NM_005045.4(RELN):c.4907A>G (p.Asp1636Gly)
|
rs587780439
|
0.00001
|
|
NM_005045.4(RELN):c.5300G>A (p.Gly1767Glu)
|
rs766384576
|
0.00001
|
|
NM_005045.4(RELN):c.589A>G (p.Ser197Gly)
|
rs756193988
|
0.00001
|
|
NM_005045.4(RELN):c.6164T>C (p.Leu2055Pro)
|
rs1190177632
|
0.00001
|
|
NM_005045.4(RELN):c.8490-3T>C
|
rs373564931
|
0.00001
|
|
NM_005045.4(RELN):c.9016A>C (p.Ile3006Leu)
|
rs755660948
|
0.00001
|
|
NM_005045.4(RELN):c.9281A>G (p.Tyr3094Cys)
|
rs750252271
|
0.00001
|
|
NM_005097.4(LGI1):c.519T>C (p.Asn173=)
|
rs587780379
|
0.00001
|
|
NM_005120.3(MED12):c.2128G>A (p.Val710Met)
|
rs797045697
|
0.00001
|
|
NM_005120.3(MED12):c.3797G>A (p.Arg1266His)
|
rs587780391
|
0.00001
|
|
NM_005120.3(MED12):c.5418G>A (p.Pro1806=)
|
rs770957462
|
0.00001
|
|
NM_005188.4(CBL):c.125A>T (p.His42Leu)
|
rs730880433
|
0.00001
|
|
NM_005188.4(CBL):c.1320C>T (p.Gly440=)
|
rs794727972
|
0.00001
|
|
NM_005188.4(CBL):c.2062C>T (p.Pro688Ser)
|
rs730880428
|
0.00001
|
|
NM_005188.4(CBL):c.660G>A (p.Glu220=)
|
rs949933368
|
0.00001
|
|
NM_005198.5(CHKB):c.1031+12G>A
|
rs777277938
|
0.00001
|
|
NM_005198.5(CHKB):c.1114-6C>T
|
rs151123092
|
0.00001
|
|
NM_005198.5(CHKB):c.138G>T (p.Glu46Asp)
|
rs752292240
|
0.00001
|
|
NM_005198.5(CHKB):c.234C>G (p.Leu78=)
|
rs929019284
|
0.00001
|
|
NM_005198.5(CHKB):c.678-12A>G
|
rs749813559
|
0.00001
|
|
NM_005199.5(CHRNG):c.806-7T>C
|
rs773463683
|
0.00001
|
|
NM_005219.5(DIAPH1):c.2773G>A (p.Val925Met)
|
rs773243948
|
0.00001
|
|
NM_005219.5(DIAPH1):c.545C>A (p.Thr182Lys)
|
rs746125273
|
0.00001
|
|
NM_005228.5(EGFR):c.2172C>T (p.Gly724=)
|
rs754578411
|
0.00001
|
|
NM_005228.5(EGFR):c.2224G>A (p.Val742Ile)
|
rs587778250
|
0.00001
|
|
NM_005228.5(EGFR):c.3143C>T (p.Ala1048Val)
|
rs78244461
|
0.00001
|
|
NM_005228.5(EGFR):c.869C>T (p.Thr290Ile)
|
rs1020654485
|
0.00001
|
|
NM_005245.4(FAT1):c.2706A>C (p.Arg902Ser)
|
rs555992573
|
0.00001
|
|
NM_005247.4(FGF3):c.100G>T (p.Gly34Cys)
|
rs1039515359
|
0.00001
|
|
NM_005249.5(FOXG1):c.1058A>G (p.Asn353Ser)
|
rs749879411
|
0.00001
|
|
NM_005249.5(FOXG1):c.1384A>G (p.Ser462Gly)
|
rs752379833
|
0.00001
|
|
NM_005249.5(FOXG1):c.382G>T (p.Gly128Cys)
|
rs1029176730
|
0.00001
|
|
NM_005262.3(GFER):c.14G>C (p.Gly5Ala)
|
rs863224025
|
0.00001
|
|
NM_005271.5(GLUD1):c.1515C>T (p.Ile505=)
|
rs774771496
|
0.00001
|
|
NM_005327.7(HADH):c.*383G>C
|
rs550706321
|
0.00001
|
|
NM_005327.7(HADH):c.159A>G (p.Val53=)
|
rs148846625
|
0.00001
|
|
NM_005327.7(HADH):c.72G>A (p.Lys24=)
|
rs781319494
|
0.00001
|
|
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly)
|
rs781783048
|
0.00001
|
|
NM_005359.6(SMAD4):c.1219G>C (p.Val407Leu)
|
rs147621330
|
0.00001
|
|
NM_005359.6(SMAD4):c.1492T>C (p.Leu498=)
|
rs1057520520
|
0.00001
|
|
NM_005359.6(SMAD4):c.249+10A>C
|
rs752243771
|
0.00001
|
|
NM_005359.6(SMAD4):c.325C>T (p.Leu109=)
|
rs1248541873
|
0.00001
|
|
NM_005359.6(SMAD4):c.566G>A (p.Arg189His)
|
rs759288477
|
0.00001
|
|
NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu)
|
rs587780793
|
0.00001
|
|
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val)
|
rs539739051
|
0.00001
|
|
NM_005359.6(SMAD4):c.870C>T (p.His290=)
|
rs1060504029
|
0.00001
|
|
NM_005359.6(SMAD4):c.885G>A (p.Pro295=)
|
rs772028872
|
0.00001
|
|
NM_005359.6(SMAD4):c.960T>C (p.Pro320=)
|
rs1568208159
|
0.00001
|
|
NM_005379.4(MYO1A):c.522C>T (p.Leu174=)
|
rs561295735
|
0.00001
|
|
NM_005422.4(TECTA):c.1572C>T (p.Cys524=)
|
rs767426110
|
0.00001
|
|
NM_005422.4(TECTA):c.5372C>G (p.Pro1791Arg)
|
rs754213928
|
0.00001
|
|
NM_005428.4(VAV1):c.381-8C>A
|
rs780032946
|
0.00001
|
|
NM_005431.2(XRCC2):c.223G>C (p.Glu75Gln)
|
rs1327414828
|
0.00001
|
|
NM_005431.2(XRCC2):c.356A>C (p.Tyr119Ser)
|
rs540634835
|
0.00001
|
|
NM_005431.2(XRCC2):c.742C>G (p.Gln248Glu)
|
rs190900560
|
0.00001
|
|
NM_005431.2(XRCC2):c.828G>A (p.Gly276=)
|
rs1590129146
|
0.00001
|
|
NM_005431.2(XRCC2):c.842G>A (p.Ter281=)
|
rs757510359
|
0.00001
|
|
NM_005445.4(SMC3):c.2163C>T (p.Ile721=)
|
rs1193209124
|
0.00001
|
|
NM_005458.8(GABBR2):c.1924C>T (p.Arg642Cys)
|
rs756391068
|
0.00001
|
|
NM_005458.8(GABBR2):c.2412+3A>G
|
rs74429712
|
0.00001
|
|
NM_005477.3(HCN4):c.1459G>A (p.Val487Met)
|
rs202037304
|
0.00001
|
|
NM_005477.3(HCN4):c.2055C>T (p.Ser685=)
|
rs886042819
|
0.00001
|
|
NM_005477.3(HCN4):c.2523G>A (p.Ser841=)
|
rs768157473
|
0.00001
|
|
NM_005502.4(ABCA1):c.2301G>T (p.Trp767Cys)
|
rs780611537
|
0.00001
|
|
NM_005502.4(ABCA1):c.4482A>G (p.Ala1494=)
|
rs1250688041
|
0.00001
|
|
NM_005529.7(HSPG2):c.2664C>T (p.Ser888=)
|
rs560919408
|
0.00001
|
|
NM_005529.7(HSPG2):c.3747C>T (p.Cys1249=)
|
rs886042933
|
0.00001
|
|
NM_005529.7(HSPG2):c.4275A>G (p.Pro1425=)
|
rs540961117
|
0.00001
|
|
NM_005529.7(HSPG2):c.8199A>G (p.Ser2733=)
|
rs886044168
|
0.00001
|
|
NM_005535.3(IL12RB1):c.1197C>T (p.Tyr399=)
|
rs761731702
|
0.00001
|
|
NM_005546.4(ITK):c.1060+12A>C
|
rs765303299
|
0.00001
|
|
NM_005548.3(KARS1):c.1184A>G (p.Asn395Ser)
|
rs780462719
|
0.00001
|
|
NM_005548.3(KARS1):c.669+6C>T
|
rs72789443
|
0.00001
|
|
NM_005559.4(LAMA1):c.7051-9T>A
|
rs1472738373
|
0.00001
|
|
NM_005566.4(LDHA):c.222A>G (p.Thr74=)
|
rs201254300
|
0.00001
|
|
NM_005566.4(LDHA):c.285G>A (p.Thr95=)
|
rs202160072
|
0.00001
|
|
NM_005591.4(MRE11):c.1074A>G (p.Pro358=)
|
rs876659934
|
0.00001
|
|
NM_005591.4(MRE11):c.1225+10T>G
|
rs863224734
|
0.00001
|
|
NM_005591.4(MRE11):c.1275A>C (p.Thr425=)
|
rs749712745
|
0.00001
|
|
NM_005591.4(MRE11):c.1783+10G>C
|
rs864622589
|
0.00001
|
|
NM_005591.4(MRE11):c.20+8C>A
|
rs766581183
|
0.00001
|
|
NM_005609.4(PYGM):c.1011G>A (p.Gln337=)
|
rs767039732
|
0.00001
|
|
NM_005609.4(PYGM):c.1092+15C>T
|
rs1319046232
|
0.00001
|
|
NM_005609.4(PYGM):c.2082C>T (p.Asp694=)
|
rs773543072
|
0.00001
|
|
NM_005609.4(PYGM):c.2322C>T (p.Val774=)
|
rs1045215677
|
0.00001
|
|
NM_005609.4(PYGM):c.256C>T (p.Leu86=)
|
rs541817643
|
0.00001
|
|
NM_005619.5(RTN2):c.79+6T>A
|
rs749104931
|
0.00001
|
|
NM_005629.4(SLC6A8):c.54G>C (p.Lys18Asn)
|
rs1261794545
|
0.00001
|
|
NM_005633.4(SOS1):c.2728G>C (p.Asp910His)
|
rs369277679
|
0.00001
|
|
NM_005633.4(SOS1):c.2998A>T (p.Ser1000Cys)
|
rs730881031
|
0.00001
|
|
NM_005633.4(SOS1):c.2999G>A (p.Ser1000Asn)
|
rs891035934
|
0.00001
|
|
NM_005633.4(SOS1):c.3282T>G (p.Gly1094=)
|
rs145357714
|
0.00001
|
|
NM_005633.4(SOS1):c.3391+3T>C
|
rs761579423
|
0.00001
|
|
NM_005633.4(SOS1):c.350T>G (p.Val117Gly)
|
rs201085754
|
0.00001
|
|
NM_005660.3(SLC35A2):c.818G>C (p.Gly273Ala)
|
rs1557042798
|
0.00001
|
|
NM_005670.4(EPM2A):c.822C>T (p.Thr274=)
|
rs763812238
|
0.00001
|
|
NM_005708.5(GPC6):c.930G>A (p.Ser310=)
|
rs754858999
|
0.00001
|
|
NM_005726.6(TSFM):c.978G>A (p.Ter326=)
|
rs766301009
|
0.00001
|
|
NM_005732.4(RAD50):c.1052-5A>T
|
rs778261497
|
0.00001
|
|
NM_005732.4(RAD50):c.1166G>A (p.Ser389Asn)
|
rs1193573653
|
0.00001
|
|
NM_005732.4(RAD50):c.123A>T (p.Gly41=)
|
rs754054728
|
0.00001
|
|
NM_005732.4(RAD50):c.129+5G>A
|
rs587781409
|
0.00001
|
|
NM_005732.4(RAD50):c.2092A>G (p.Ile698Val)
|
rs781213977
|
0.00001
|
|
NM_005732.4(RAD50):c.2207+3A>G
|
rs781305309
|
0.00001
|
|
NM_005732.4(RAD50):c.2530A>C (p.Ser844Arg)
|
rs373817937
|
0.00001
|
|
NM_005732.4(RAD50):c.2566C>A (p.Gln856Lys)
|
rs760006536
|
0.00001
|
|
NM_005732.4(RAD50):c.2651G>A (p.Arg884His)
|
rs558302979
|
0.00001
|
|
NM_005732.4(RAD50):c.3164+3A>G
|
rs1275882210
|
0.00001
|
|
NM_005732.4(RAD50):c.3466C>T (p.Arg1156Cys)
|
rs535261113
|
0.00001
|
|
NM_005732.4(RAD50):c.3497G>T (p.Arg1166Leu)
|
rs763145238
|
0.00001
|
|
NM_005732.4(RAD50):c.3752+3A>G
|
rs864622704
|
0.00001
|
|
NM_005732.4(RAD50):c.3753-4G>T
|
rs775426160
|
0.00001
|
|
NM_005732.4(RAD50):c.756+5C>T
|
rs587782827
|
0.00001
|
|
NM_005732.4(RAD50):c.885+5G>A
|
rs200264387
|
0.00001
|
|
NM_005751.5(AKAP9):c.4709C>T (p.Ser1570Leu)
|
rs121908566
|
0.00001
|
|
NM_005751.5(AKAP9):c.4837A>G (p.Met1613Val)
|
rs193922723
|
0.00001
|
|
NM_005751.5(AKAP9):c.5870A>G (p.Asn1957Ser)
|
rs767966419
|
0.00001
|
|
NM_005751.5(AKAP9):c.9881G>A (p.Arg3294Gln)
|
rs752685614
|
0.00001
|
|
NM_005787.6(ALG3):c.1024C>A (p.Leu342Ile)
|
rs568371168
|
0.00001
|
|
NM_005787.6(ALG3):c.66G>A (p.Lys22=)
|
rs778269575
|
0.00001
|
|
NM_005787.6(ALG3):c.696C>T (p.Leu232=)
|
rs1174962210
|
0.00001
|
|
NM_005902.4(SMAD3):c.1009+5A>C
|
rs772995932
|
0.00001
|
|
NM_005902.4(SMAD3):c.1009+6C>T
|
rs749052145
|
0.00001
|
|
NM_005902.4(SMAD3):c.1010-10T>C
|
rs1179340088
|
0.00001
|
|
NM_005902.4(SMAD3):c.1010-12T>C
|
rs773629535
|
0.00001
|
|
NM_005902.4(SMAD3):c.179T>C (p.Val60Ala)
|
rs1242358787
|
0.00001
|
|
NM_005902.4(SMAD3):c.532+8C>T
|
rs370879516
|
0.00001
|
|
NM_005902.4(SMAD3):c.597C>T (p.Ser199=)
|
rs769225687
|
0.00001
|
|
NM_005902.4(SMAD3):c.613C>T (p.Pro205Ser)
|
rs150682850
|
0.00001
|
|
NM_005902.4(SMAD3):c.798G>A (p.Ser266=)
|
rs761391442
|
0.00001
|
|
NM_005908.4(MANBA):c.1112+8A>C
|
rs752741187
|
0.00001
|
|
NM_005908.4(MANBA):c.111G>T (p.Ser37=)
|
rs927918838
|
0.00001
|
|
NM_005908.4(MANBA):c.1746A>T (p.Ser582=)
|
rs1730293546
|
0.00001
|
|
NM_005908.4(MANBA):c.2115T>C (p.Tyr705=)
|
rs180816849
|
0.00001
|
|
NM_005957.5(MTHFR):c.1002G>A (p.Lys334=)
|
rs147727428
|
0.00001
|
|
NM_005989.4(AKR1D1):c.24C>T (p.His8=)
|
rs138462322
|
0.00001
|
|
NM_005996.4(TBX3):c.1271C>T (p.Ser424Phe)
|
rs1450439762
|
0.00001
|
|
NM_006005.3(WFS1):c.1015G>A (p.Asp339Asn)
|
rs772392224
|
0.00001
|
|
NM_006005.3(WFS1):c.1234G>C (p.Val412Leu)
|
rs149865710
|
0.00001
|
|
NM_006005.3(WFS1):c.125G>A (p.Arg42Gln)
|
rs750806151
|
0.00001
|
|
NM_006005.3(WFS1):c.1416C>A (p.Pro472=)
|
rs530734300
|
0.00001
|
|
NM_006005.3(WFS1):c.2191A>G (p.Met731Val)
|
rs144010362
|
0.00001
|
|
NM_006005.3(WFS1):c.2380G>A (p.Glu794Lys)
|
rs201078003
|
0.00001
|
|
NM_006005.3(WFS1):c.2413C>T (p.Arg805Trp)
|
rs763107032
|
0.00001
|
|
NM_006005.3(WFS1):c.2454C>T (p.Arg818=)
|
rs139223980
|
0.00001
|
|
NM_006005.3(WFS1):c.693G>A (p.Glu231=)
|
rs149479911
|
0.00001
|
|
NM_006005.3(WFS1):c.804C>T (p.Asp268=)
|
rs199741678
|
0.00001
|
|
NM_006015.6(ARID1A):c.2512G>A (p.Gly838Arg)
|
rs753334968
|
0.00001
|
|
NM_006015.6(ARID1A):c.2668A>G (p.Met890Val)
|
rs140664170
|
0.00001
|
|
NM_006015.6(ARID1A):c.3702C>T (p.Gly1234=)
|
rs376672377
|
0.00001
|
|
NM_006015.6(ARID1A):c.437C>T (p.Pro146Leu)
|
rs781072025
|
0.00001
|
|
NM_006015.6(ARID1A):c.6070C>T (p.Arg2024Trp)
|
rs2081175768
|
0.00001
|
|
NM_006017.3(PROM1):c.1320C>T (p.Val440=)
|
rs765602610
|
0.00001
|
|
NM_006017.3(PROM1):c.1856A>G (p.Gln619Arg)
|
rs905919709
|
0.00001
|
|
NM_006017.3(PROM1):c.677C>T (p.Ala226Val)
|
rs376198840
|
0.00001
|
|
NM_006019.4(TCIRG1):c.1583G>C (p.Ser528Thr)
|
rs555362865
|
0.00001
|
|
NM_006019.4(TCIRG1):c.60G>A (p.Ala20=)
|
rs111424326
|
0.00001
|
|
NM_006031.6(PCNT):c.1457-9dup
|
rs1486232846
|
0.00001
|
|
NM_006031.6(PCNT):c.1593G>A (p.Glu531=)
|
rs767430243
|
0.00001
|
|
NM_006031.6(PCNT):c.4585-3T>C
|
rs777059690
|
0.00001
|
|
NM_006031.6(PCNT):c.5975C>T (p.Pro1992Leu)
|
rs758977418
|
0.00001
|
|
NM_006031.6(PCNT):c.7104T>C (p.Pro2368=)
|
rs576187743
|
0.00001
|
|
NM_006031.6(PCNT):c.7950C>T (p.Ala2650=)
|
rs777255057
|
0.00001
|
|
NM_006031.6(PCNT):c.9090C>T (p.Thr3030=)
|
rs942925965
|
0.00001
|
|
NM_006059.4(LAMC3):c.1414C>A (p.His472Asn)
|
rs145387373
|
0.00001
|
|
NM_006059.4(LAMC3):c.4031-10G>A
|
rs555619019
|
0.00001
|
|
NM_006059.4(LAMC3):c.4031-4G>A
|
rs765657893
|
0.00001
|
|
NM_006059.4(LAMC3):c.4698C>T (p.Ser1566=)
|
rs754122699
|
0.00001
|
|
NM_006086.4(TUBB3):c.1206C>T (p.Gly402=)
|
rs757192357
|
0.00001
|
|
NM_006086.4(TUBB3):c.1331C>T (p.Ser444Leu)
|
rs587784504
|
0.00001
|
|
NM_006086.4(TUBB3):c.210C>T (p.Pro70=)
|
rs754683361
|
0.00001
|
|
NM_006086.4(TUBB3):c.606C>T (p.Ile202=)
|
rs576180572
|
0.00001
|
|
NM_006096.4(NDRG1):c.591G>A (p.Gly197=)
|
rs377257830
|
0.00001
|
|
NM_006096.4(NDRG1):c.766C>T (p.Leu256=)
|
rs898573925
|
0.00001
|
|
NM_006096.4(NDRG1):c.855+14_855+15del
|
rs780070007
|
0.00001
|
|
NM_006118.4(HAX1):c.36C>G (p.Gly12=)
|
rs201477841
|
0.00001
|
|
NM_006118.4(HAX1):c.798C>T (p.Ser266=)
|
rs762492730
|
0.00001
|
|
NM_006129.5(BMP1):c.2745C>T (p.Thr915=)
|
rs374251317
|
0.00001
|
|
NM_006206.6(PDGFRA):c.1122-6T>A
|
rs754623338
|
0.00001
|
|
NM_006206.6(PDGFRA):c.1471G>A (p.Ala491Thr)
|
rs563016888
|
0.00001
|
|
NM_006206.6(PDGFRA):c.1516C>T (p.Leu506Phe)
|
rs142980928
|
0.00001
|
|
NM_006206.6(PDGFRA):c.1794C>T (p.Val598=)
|
rs1218651787
|
0.00001
|
|
NM_006206.6(PDGFRA):c.2003-7C>T
|
rs886059447
|
0.00001
|
|
NM_006206.6(PDGFRA):c.2232C>T (p.Pro744=)
|
rs1060504254
|
0.00001
|
|
NM_006206.6(PDGFRA):c.2266G>A (p.Asp756Asn)
|
rs555347387
|
0.00001
|
|
NM_006206.6(PDGFRA):c.2881-8G>A
|
rs778161572
|
0.00001
|
|
NM_006206.6(PDGFRA):c.345G>A (p.Arg115=)
|
rs778510648
|
0.00001
|
|
NM_006206.6(PDGFRA):c.46A>T (p.Thr16Ser)
|
rs587778596
|
0.00001
|
|
NM_006206.6(PDGFRA):c.613G>A (p.Val205Ile)
|
rs775304724
|
0.00001
|
|
NM_006231.4(POLE):c.1227-4C>T
|
rs1200122093
|
0.00001
|
|
NM_006231.4(POLE):c.1308C>T (p.Pro436=)
|
rs755627156
|
0.00001
|
|
NM_006231.4(POLE):c.1360-20C>G
|
rs781212006
|
0.00001
|
|
NM_006231.4(POLE):c.1608T>C (p.Ser536=)
|
rs763078534
|
0.00001
|
|
NM_006231.4(POLE):c.2540G>A (p.Arg847Gln)
|
rs534297483
|
0.00001
|
|
NM_006231.4(POLE):c.2706+10G>A
|
rs372609836
|
0.00001
|
|
NM_006231.4(POLE):c.2706+5G>A
|
rs375931088
|
0.00001
|
|
NM_006231.4(POLE):c.2707-9G>A
|
rs1057521516
|
0.00001
|
|
NM_006231.4(POLE):c.2964G>A (p.Ser988=)
|
rs200080353
|
0.00001
|
|
NM_006231.4(POLE):c.3061-4C>G
|
rs201517516
|
0.00001
|
|
NM_006231.4(POLE):c.3447G>A (p.Ala1149=)
|
rs758702382
|
0.00001
|
|
NM_006231.4(POLE):c.3582+6G>A
|
rs113307290
|
0.00001
|
|
NM_006231.4(POLE):c.369G>A (p.Lys123=)
|
rs1328407908
|
0.00001
|
|
NM_006231.4(POLE):c.391G>T (p.Val131Leu)
|
rs745601745
|
0.00001
|
|
NM_006231.4(POLE):c.4427T>G (p.Phe1476Cys)
|
rs985504177
|
0.00001
|
|
NM_006231.4(POLE):c.4445-7T>C
|
rs754001064
|
0.00001
|
|
NM_006231.4(POLE):c.4490A>G (p.Lys1497Arg)
|
rs557957962
|
0.00001
|
|
NM_006231.4(POLE):c.4555C>T (p.Arg1519Cys)
|
rs542430685
|
0.00001
|
|
NM_006231.4(POLE):c.4667G>A (p.Arg1556Gln)
|
rs762965148
|
0.00001
|
|
NM_006231.4(POLE):c.4952+5G>A
|
rs1555222548
|
0.00001
|
|
NM_006231.4(POLE):c.5340C>T (p.Ala1780=)
|
rs1291600656
|
0.00001
|
|
NM_006231.4(POLE):c.5379-5T>C
|
rs761910924
|
0.00001
|
|
NM_006231.4(POLE):c.5454G>A (p.Val1818=)
|
rs1046972573
|
0.00001
|
|
NM_006231.4(POLE):c.5562T>C (p.Ala1854=)
|
rs1174721130
|
0.00001
|
|
NM_006231.4(POLE):c.5608C>T (p.Arg1870Cys)
|
rs138231414
|
0.00001
|
|
NM_006231.4(POLE):c.5866G>A (p.Glu1956Lys)
|
rs749992643
|
0.00001
|
|
NM_006231.4(POLE):c.6041G>A (p.Gly2014Glu)
|
rs757480645
|
0.00001
|
|
NM_006231.4(POLE):c.6475C>T (p.Arg2159Cys)
|
rs5745067
|
0.00001
|
|
NM_006231.4(POLE):c.6631C>T (p.Leu2211=)
|
rs769635764
|
0.00001
|
|
NM_006231.4(POLE):c.6646C>T (p.Leu2216=)
|
rs1220762553
|
0.00001
|
|
NM_006231.4(POLE):c.6748-6C>T
|
rs750255126
|
0.00001
|
|
NM_006231.4(POLE):c.6775C>T (p.Arg2259Trp)
|
rs866548835
|
0.00001
|
|
NM_006231.4(POLE):c.90G>A (p.Ser30=)
|
rs369224511
|
0.00001
|
|
NM_006231.4(POLE):c.910-13T>C
|
rs759098283
|
0.00001
|
|
NM_006231.4(POLE):c.941C>G (p.Ser314Ter)
|
rs869312803
|
0.00001
|
|
NM_006231.4(POLE):c.942A>C (p.Ser314=)
|
rs548933169
|
0.00001
|
|
NM_006231.4(POLE):c.94C>T (p.Leu32Phe)
|
rs781513537
|
0.00001
|
|
NM_006245.4(PPP2R5D):c.1419T>G (p.Phe473Leu)
|
rs375663526
|
0.00001
|
|
NM_006258.4(PRKG1):c.75C>A (p.Ile25=)
|
rs776048746
|
0.00001
|
|
NM_006261.5(PROP1):c.456T>C (p.Ala152=)
|
rs758911793
|
0.00001
|
|
NM_006265.3(RAD21):c.1349G>A (p.Arg450His)
|
rs1051321465
|
0.00001
|
|
NM_006306.4(SMC1A):c.1911+7A>G
|
rs2075687773
|
0.00001
|
|
NM_006306.4(SMC1A):c.1917G>A (p.Val639=)
|
rs782292864
|
0.00001
|
|
NM_006306.4(SMC1A):c.285C>G (p.Ala95=)
|
rs587784414
|
0.00001
|
|
NM_006306.4(SMC1A):c.3252C>T (p.Ile1084=)
|
rs587784417
|
0.00001
|
|
NM_006329.4(FBLN5):c.195G>C (p.Gly65=)
|
rs774561389
|
0.00001
|
|
NM_006343.3(MERTK):c.1938C>T (p.His646=)
|
rs1309440527
|
0.00001
|
|
NM_006343.3(MERTK):c.584-5C>T
|
rs747835003
|
0.00001
|
|
NM_006348.5(COG5):c.538+10T>G
|
rs769195866
|
0.00001
|
|
NM_006348.5(COG5):c.836-9C>T
|
rs757452204
|
0.00001
|
|
NM_006363.6(SEC23B):c.773A>G (p.Gln258Arg)
|
rs534770840
|
0.00001
|
|
NM_006371.5(CRTAP):c.528T>G (p.Pro176=)
|
rs774680682
|
0.00001
|
|
NM_006397.3(RNASEH2A):c.285G>A (p.Val95=)
|
rs374650162
|
0.00001
|
|
NM_006397.3(RNASEH2A):c.516C>T (p.Tyr172=)
|
rs1415211346
|
0.00001
|
|
NM_006397.3(RNASEH2A):c.637+8G>A
|
rs757139110
|
0.00001
|
|
NM_006397.3(RNASEH2A):c.762-13C>G
|
rs781591228
|
0.00001
|
|
NM_006420.3(ARFGEF2):c.2406G>A (p.Arg802=)
|
rs756651881
|
0.00001
|
|
NM_006420.3(ARFGEF2):c.4557C>T (p.Pro1519=)
|
rs797045258
|
0.00001
|
|
NM_006432.5(NPC2):c.240C>T (p.Gly80=)
|
rs773836291
|
0.00001
|
|
NM_006432.5(NPC2):c.414C>A (p.Leu138=)
|
rs1323196897
|
0.00001
|
|
NM_006506.5(RASA2):c.133+10G>A
|
rs775544477
|
0.00001
|
|
NM_006506.5(RASA2):c.2329+7A>G
|
rs1444704196
|
0.00001
|
|
NM_006514.4(SCN10A):c.1715C>T (p.Pro572Leu)
|
rs553784643
|
0.00001
|
|
NM_006514.4(SCN10A):c.2209G>A (p.Val737Ile)
|
rs764654464
|
0.00001
|
|
NM_006514.4(SCN10A):c.2483C>T (p.Pro828Leu)
|
rs749000689
|
0.00001
|
|
NM_006514.4(SCN10A):c.2658C>T (p.Ile886=)
|
rs148963942
|
0.00001
|
|
NM_006514.4(SCN10A):c.4245G>A (p.Gly1415=)
|
rs771909114
|
0.00001
|
|
NM_006514.4(SCN10A):c.5306A>C (p.Asp1769Ala)
|
rs377121469
|
0.00001
|
|
NM_006514.4(SCN10A):c.5446G>A (p.Gly1816Arg)
|
rs779692735
|
0.00001
|
|
NM_006516.4(SLC2A1):c.-2C>T
|
rs587784388
|
0.00001
|
|
NM_006516.4(SLC2A1):c.1024G>A (p.Ala342Thr)
|
rs763241827
|
0.00001
|
|
NM_006516.4(SLC2A1):c.1297G>A (p.Val433Ile)
|
rs200819771
|
0.00001
|
|
NM_006516.4(SLC2A1):c.1446G>C (p.Leu482=)
|
rs794726996
|
0.00001
|
|
NM_006516.4(SLC2A1):c.19-4G>A
|
rs398124229
|
0.00001
|
|
NM_006516.4(SLC2A1):c.192C>G (p.Leu64=)
|
rs762583668
|
0.00001
|
|
NM_006516.4(SLC2A1):c.680-10G>T
|
rs587784394
|
0.00001
|
|
NM_006516.4(SLC2A1):c.746G>A (p.Arg249Gln)
|
rs587784395
|
0.00001
|
|
NM_006612.6(KIF1C):c.1750+5A>C
|
rs776089509
|
0.00001
|
|
NM_006623.4(PHGDH):c.129G>A (p.Ala43=)
|
rs587623477
|
0.00001
|
|
NM_006662.3(SRCAP):c.1493A>T (p.Asp498Val)
|
rs199716597
|
0.00001
|
|
NM_006662.3(SRCAP):c.1611G>C (p.Gln537His)
|
rs771334638
|
0.00001
|
|
NM_006662.3(SRCAP):c.3050C>T (p.Ala1017Val)
|
rs767714019
|
0.00001
|
|
NM_006662.3(SRCAP):c.3484C>T (p.Pro1162Ser)
|
rs753700157
|
0.00001
|
|
NM_006734.4(HIVEP2):c.2156C>T (p.Thr719Ile)
|
rs780128851
|
0.00001
|
|
NM_006757.4(TNNT3):c.690G>A (p.Thr230=)
|
rs753756081
|
0.00001
|
|
NM_006757.4(TNNT3):c.722+3G>A
|
rs771716631
|
0.00001
|
|
NM_006766.5(KAT6A):c.2689G>C (p.Glu897Gln)
|
rs1367238054
|
0.00001
|
|
NM_006766.5(KAT6A):c.3026C>T (p.Thr1009Met)
|
rs750975358
|
0.00001
|
|
NM_006766.5(KAT6A):c.5630G>A (p.Arg1877His)
|
rs1308362424
|
0.00001
|
|
NM_006766.5(KAT6A):c.5666G>A (p.Arg1889His)
|
rs1342950357
|
0.00001
|
|
NM_006766.5(KAT6A):c.5776C>G (p.Arg1926Gly)
|
rs900174205
|
0.00001
|
|
NM_006766.5(KAT6A):c.661G>A (p.Glu221Lys)
|
rs774910975
|
0.00001
|
|
NM_006767.4(LZTR1):c.1260+11T>A
|
rs1298556569
|
0.00001
|
|
NM_006767.4(LZTR1):c.2070-8G>T
|
rs768003361
|
0.00001
|
|
NM_006767.4(LZTR1):c.2310G>A (p.Val770=)
|
rs1226268646
|
0.00001
|
|
NM_006772.3(SYNGAP1):c.2324G>A (p.Arg775Gln)
|
rs761691865
|
0.00001
|
|
NM_006790.3(MYOT):c.1222T>C (p.Leu408=)
|
rs886059968
|
0.00001
|
|
NM_006790.3(MYOT):c.1439A>G (p.Glu480Gly)
|
rs727504026
|
0.00001
|
|
NM_006892.4(DNMT3B):c.132G>A (p.Pro44=)
|
rs138805251
|
0.00001
|
|
NM_006892.4(DNMT3B):c.1490+8C>G
|
rs746731138
|
0.00001
|
|
NM_006892.4(DNMT3B):c.895C>A (p.Arg299=)
|
rs201067137
|
0.00001
|
|
NM_006904.7(PRKDC):c.7080T>C (p.Phe2360=)
|
rs1463023336
|
0.00001
|
|
NM_006904.7(PRKDC):c.7371C>T (p.Pro2457=)
|
rs1037182844
|
0.00001
|
|
NM_006904.7(PRKDC):c.7812G>A (p.Pro2604=)
|
rs763035246
|
0.00001
|
|
NM_006912.6(RIT1):c.461G>A (p.Arg154Gln)
|
rs754596127
|
0.00001
|
|
NM_006922.4(SCN3A):c.1840C>G (p.Pro614Ala)
|
rs868728039
|
0.00001
|
|
NM_006922.4(SCN3A):c.1855G>A (p.Glu619Lys)
|
rs577018955
|
0.00001
|
|
NM_006922.4(SCN3A):c.3387C>A (p.Ser1129Arg)
|
rs774375940
|
0.00001
|
|
NM_006922.4(SCN3A):c.4121A>T (p.Asp1374Val)
|
rs377507565
|
0.00001
|
|
NM_006939.4(SOS2):c.2161+10A>G
|
rs201629454
|
0.00001
|
|
NM_006939.4(SOS2):c.2290A>G (p.Ser764Gly)
|
rs779464455
|
0.00001
|
|
NM_006939.4(SOS2):c.2957G>A (p.Arg986Lys)
|
rs772746106
|
0.00001
|
|
NM_006939.4(SOS2):c.3698A>C (p.Asn1233Thr)
|
rs201756168
|
0.00001
|
|
NM_006939.4(SOS2):c.374A>T (p.His125Leu)
|
rs777300218
|
0.00001
|
|
NM_006939.4(SOS2):c.3782C>G (p.Thr1261Ser)
|
rs780772018
|
0.00001
|
|
NM_006939.4(SOS2):c.3815G>A (p.Arg1272His)
|
rs200104745
|
0.00001
|
|
NM_006941.4(SOX10):c.782G>A (p.Arg261His)
|
rs1407535458
|
0.00001
|
|
NM_006941.4(SOX10):c.981C>A (p.Ala327=)
|
rs949765986
|
0.00001
|
|
NM_006946.4(SPTBN2):c.1973G>A (p.Arg658Gln)
|
rs753491527
|
0.00001
|
|
NM_006946.4(SPTBN2):c.2006C>T (p.Thr669Met)
|
rs775522542
|
0.00001
|
|
NM_006946.4(SPTBN2):c.3037G>A (p.Ala1013Thr)
|
rs148016656
|
0.00001
|
|
NM_006946.4(SPTBN2):c.4833G>C (p.Met1611Ile)
|
rs1328577241
|
0.00001
|
|
NM_006946.4(SPTBN2):c.6265A>T (p.Arg2089Trp)
|
rs890981545
|
0.00001
|
|
NM_006946.4(SPTBN2):c.6802G>A (p.Val2268Met)
|
rs750623875
|
0.00001
|
|
NM_006946.4(SPTBN2):c.913C>T (p.Arg305Cys)
|
rs372293906
|
0.00001
|
|
NM_006947.4(SRP72):c.1428A>G (p.Gln476=)
|
rs755620294
|
0.00001
|
|
NM_006949.4(STXBP2):c.1230C>T (p.Tyr410=)
|
rs771186417
|
0.00001
|
|
NM_006949.4(STXBP2):c.169+11G>C
|
rs756350869
|
0.00001
|
|
NM_006950.3(SYN1):c.364C>T (p.Pro122Ser)
|
rs774818779
|
0.00001
|
|
NM_006996.3(SLC19A2):c.104C>T (p.Ala35Val)
|
rs756487822
|
0.00001
|
|
NM_007078.3(LDB3):c.1437G>C (p.Gly479=)
|
rs960379328
|
0.00001
|
|
NM_007078.3(LDB3):c.443G>A (p.Arg148Gln)
|
rs751254270
|
0.00001
|
|
NM_007078.3(LDB3):c.550A>G (p.Lys184Glu)
|
rs774886148
|
0.00001
|
|
NM_007078.3(LDB3):c.723C>T (p.Ser241=)
|
rs200580597
|
0.00001
|
|
NM_007078.3(LDB3):c.991G>A (p.Ala331Thr)
|
rs749520121
|
0.00001
|
|
NM_007175.8(ERLIN2):c.589G>A (p.Ala197Thr)
|
rs149254654
|
0.00001
|
|
NM_007186.6(CEP250):c.2039C>T (p.Ala680Val)
|
rs1298763139
|
0.00001
|
|
NM_007194.4(CHEK2):c.1009-7T>G
|
rs763174055
|
0.00001
|
|
NM_007194.4(CHEK2):c.1083C>T (p.Asp361=)
|
rs572668197
|
0.00001
|
|
NM_007194.4(CHEK2):c.1096-4T>C
|
rs587782840
|
0.00001
|
|
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=)
|
rs758102180
|
0.00001
|
|
NM_007194.4(CHEK2):c.132C>T (p.Ser44=)
|
rs199715101
|
0.00001
|
|
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro)
|
rs763395924
|
0.00001
|
|
NM_007194.4(CHEK2):c.1374A>G (p.Lys458=)
|
rs776093527
|
0.00001
|
|
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=)
|
rs749156425
|
0.00001
|
|
NM_007194.4(CHEK2):c.1461+4G>A
|
rs1057522400
|
0.00001
|
|
NM_007194.4(CHEK2):c.1499C>T (p.Ser500Phe)
|
rs28909981
|
0.00001
|
|
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys)
|
rs17883172
|
0.00001
|
|
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val)
|
rs17882942
|
0.00001
|
|
NM_007194.4(CHEK2):c.1566C>T (p.Pro522=)
|
rs202104749
|
0.00001
|
|
NM_007194.4(CHEK2):c.1568G>A (p.Arg523His)
|
rs948928965
|
0.00001
|
|
NM_007194.4(CHEK2):c.1593G>A (p.Glu531=)
|
rs758555487
|
0.00001
|
|
NM_007194.4(CHEK2):c.215A>G (p.Tyr72Cys)
|
rs769819013
|
0.00001
|
|
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser)
|
rs876660788
|
0.00001
|
|
NM_007194.4(CHEK2):c.444+3A>G
|
rs587781279
|
0.00001
|
|
NM_007194.4(CHEK2):c.573G>C (p.Leu191=)
|
rs786201267
|
0.00001
|
|
NM_007194.4(CHEK2):c.661A>G (p.Ile221Val)
|
rs199749372
|
0.00001
|
|
NM_007194.4(CHEK2):c.683+9T>C
|
rs1060504691
|
0.00001
|
|
NM_007194.4(CHEK2):c.74T>C (p.Val25Ala)
|
rs587780188
|
0.00001
|
|
NM_007194.4(CHEK2):c.908+10A>G
|
rs774973319
|
0.00001
|
|
NM_007254.4(PNKP):c.422G>A (p.Arg141Gln)
|
rs570013652
|
0.00001
|
|
NM_007254.4(PNKP):c.624C>T (p.Ala208=)
|
rs571119317
|
0.00001
|
|
NM_007254.4(PNKP):c.762C>T (p.His254=)
|
rs794727920
|
0.00001
|
|
NM_007259.5(VPS45):c.201G>A (p.Lys67=)
|
rs782546296
|
0.00001
|
|
NM_007272.3(CTRC):c.230+7G>A
|
rs754126755
|
0.00001
|
|
NM_007272.3(CTRC):c.369C>T (p.Ala123=)
|
rs749606141
|
0.00001
|
|
NM_007272.3(CTRC):c.46A>G (p.Ser16Gly)
|
rs765777463
|
0.00001
|
|
NM_007272.3(CTRC):c.595A>T (p.Thr199Ser)
|
rs751977111
|
0.00001
|
|
NM_007272.3(CTRC):c.68C>T (p.Pro23Leu)
|
rs533967597
|
0.00001
|
|
NM_007289.4(MME):c.1241A>G (p.Tyr414Cys)
|
rs202095767
|
0.00001
|
|
NM_007289.4(MME):c.1590G>A (p.Val530=)
|
rs1209332250
|
0.00001
|
|
NM_007294.4(BRCA1):c.1015A>G (p.Lys339Glu)
|
rs55842957
|
0.00001
|
|
NM_007294.4(BRCA1):c.1030G>A (p.Ala344Thr)
|
rs79727659
|
0.00001
|
|
NM_007294.4(BRCA1):c.1081T>C (p.Ser361Pro)
|
rs80356946
|
0.00001
|
|
NM_007294.4(BRCA1):c.1105G>A (p.Asp369Asn)
|
rs56056711
|
0.00001
|
|
NM_007294.4(BRCA1):c.1134C>A (p.Ser378Arg)
|
rs863224752
|
0.00001
|
|
NM_007294.4(BRCA1):c.1144G>T (p.Val382Phe)
|
rs1160165083
|
0.00001
|
|
NM_007294.4(BRCA1):c.1228G>A (p.Ala410Thr)
|
rs779974365
|
0.00001
|
|
NM_007294.4(BRCA1):c.1258G>T (p.Asp420Tyr)
|
rs80357488
|
0.00001
|
|
NM_007294.4(BRCA1):c.1264T>C (p.Tyr422His)
|
rs764186025
|
0.00001
|
|
NM_007294.4(BRCA1):c.1270G>A (p.Gly424Ser)
|
rs763051683
|
0.00001
|
|
NM_007294.4(BRCA1):c.1286T>C (p.Ile429Thr)
|
rs775869160
|
0.00001
|
|
NM_007294.4(BRCA1):c.1301G>A (p.Ser434Asn)
|
rs1485510803
|
0.00001
|
|
NM_007294.4(BRCA1):c.1315G>A (p.Ala439Thr)
|
rs1064794098
|
0.00001
|
|
NM_007294.4(BRCA1):c.1316C>G (p.Ala439Gly)
|
rs777132211
|
0.00001
|
|
NM_007294.4(BRCA1):c.1333G>C (p.Glu445Gln)
|
rs80356915
|
0.00001
|
|
NM_007294.4(BRCA1):c.1336A>G (p.Arg446Gly)
|
rs587781715
|
0.00001
|
|
NM_007294.4(BRCA1):c.1349A>G (p.Lys450Arg)
|
rs778668550
|
0.00001
|
|
NM_007294.4(BRCA1):c.134A>C (p.Lys45Thr)
|
rs80356863
|
0.00001
|
|
NM_007294.4(BRCA1):c.1367T>C (p.Ile456Thr)
|
rs80357360
|
0.00001
|
|
NM_007294.4(BRCA1):c.1381T>C (p.Phe461Leu)
|
rs62625300
|
0.00001
|
|
NM_007294.4(BRCA1):c.1384G>A (p.Gly462Arg)
|
rs80357221
|
0.00001
|
|
NM_007294.4(BRCA1):c.1396C>T (p.Arg466Trp)
|
rs80356964
|
0.00001
|
|
NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln)
|
rs199540030
|
0.00001
|
|
NM_007294.4(BRCA1):c.1423A>T (p.Ser475Cys)
|
rs1064794047
|
0.00001
|
|
NM_007294.4(BRCA1):c.1448T>C (p.Ile483Thr)
|
rs80357489
|
0.00001
|
|
NM_007294.4(BRCA1):c.144G>A (p.Met48Ile)
|
rs587783040
|
0.00001
|
|
NM_007294.4(BRCA1):c.1510C>T (p.Arg504Cys)
|
rs80357445
|
0.00001
|
|
NM_007294.4(BRCA1):c.1532G>T (p.Gly511Val)
|
rs397507188
|
0.00001
|
|
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe)
|
rs80357084
|
0.00001
|
|
NM_007294.4(BRCA1):c.1555A>C (p.Lys519Gln)
|
rs397508882
|
0.00001
|
|
NM_007294.4(BRCA1):c.1581G>C (p.Lys527Asn)
|
rs80357493
|
0.00001
|
|
NM_007294.4(BRCA1):c.1609A>G (p.Asn537Asp)
|
rs398122639
|
0.00001
|
|
NM_007294.4(BRCA1):c.1639A>C (p.Asn547His)
|
rs1060502351
|
0.00001
|
|
NM_007294.4(BRCA1):c.1654G>A (p.Gly552Ser)
|
rs758598971
|
0.00001
|
|
NM_007294.4(BRCA1):c.16C>T (p.Leu6Phe)
|
rs1315262605
|
0.00001
|
|
NM_007294.4(BRCA1):c.1702C>T (p.Pro568Ser)
|
rs755122577
|
0.00001
|
|
NM_007294.4(BRCA1):c.1703C>G (p.Pro568Arg)
|
rs80356910
|
0.00001
|
|
NM_007294.4(BRCA1):c.1711A>G (p.Ile571Val)
|
rs1310719199
|
0.00001
|
|
NM_007294.4(BRCA1):c.1713A>G (p.Ile571Met)
|
rs552505690
|
0.00001
|
|
NM_007294.4(BRCA1):c.1745C>T (p.Thr582Met)
|
rs786202386
|
0.00001
|
|
NM_007294.4(BRCA1):c.1766G>T (p.Ser589Ile)
|
rs1567798335
|
0.00001
|
|
NM_007294.4(BRCA1):c.1772T>C (p.Ile591Thr)
|
rs80356859
|
0.00001
|
|
NM_007294.4(BRCA1):c.1838G>A (p.Arg613Lys)
|
rs786203937
|
0.00001
|
|
NM_007294.4(BRCA1):c.1866G>A (p.Ala622=)
|
rs1800064
|
0.00001
|
|
NM_007294.4(BRCA1):c.1868T>C (p.Leu623Pro)
|
rs397508915
|
0.00001
|
|
NM_007294.4(BRCA1):c.1879G>A (p.Val627Ile)
|
rs80357425
|
0.00001
|
|
NM_007294.4(BRCA1):c.1897C>T (p.Pro633Ser)
|
rs80356902
|
0.00001
|
|
NM_007294.4(BRCA1):c.1898C>T (p.Pro633Leu)
|
rs398122647
|
0.00001
|
|
NM_007294.4(BRCA1):c.1906T>G (p.Cys636Gly)
|
rs1334848140
|
0.00001
|
|
NM_007294.4(BRCA1):c.1907G>A (p.Cys636Tyr)
|
rs398122649
|
0.00001
|
|
NM_007294.4(BRCA1):c.1920A>T (p.Gln640His)
|
rs587782843
|
0.00001
|
|
NM_007294.4(BRCA1):c.1922T>C (p.Ile641Thr)
|
rs730881474
|
0.00001
|
|
NM_007294.4(BRCA1):c.1924G>C (p.Asp642His)
|
rs80357344
|
0.00001
|
|
NM_007294.4(BRCA1):c.1934C>A (p.Ser645Tyr)
|
rs80357129
|
0.00001
|
|
NM_007294.4(BRCA1):c.1934C>G (p.Ser645Cys)
|
rs80357129
|
0.00001
|
|
NM_007294.4(BRCA1):c.2043T>G (p.Ser681Arg)
|
rs143920945
|
0.00001
|
|
NM_007294.4(BRCA1):c.2050C>T (p.Pro684Ser)
|
rs397508934
|
0.00001
|
|
NM_007294.4(BRCA1):c.2068A>G (p.Lys690Glu)
|
rs587781448
|
0.00001
|
|
NM_007294.4(BRCA1):c.2078A>G (p.Asp693Gly)
|
rs756748588
|
0.00001
|
|
NM_007294.4(BRCA1):c.20G>A (p.Arg7His)
|
rs144792613
|
0.00001
|
|
NM_007294.4(BRCA1):c.2119G>C (p.Gly707Arg)
|
rs587781420
|
0.00001
|
|
NM_007294.4(BRCA1):c.212+4T>C
|
rs398122652
|
0.00001
|
|
NM_007294.4(BRCA1):c.2158G>A (p.Glu720Lys)
|
rs80356875
|
0.00001
|
|
NM_007294.4(BRCA1):c.2171C>T (p.Pro724Leu)
|
rs751104940
|
0.00001
|
|
NM_007294.4(BRCA1):c.2180C>T (p.Pro727Leu)
|
rs80356912
|
0.00001
|
|
NM_007294.4(BRCA1):c.2183G>A (p.Arg728Lys)
|
rs80357335
|
0.00001
|
|
NM_007294.4(BRCA1):c.2195A>C (p.Glu732Ala)
|
rs876660463
|
0.00001
|
|
NM_007294.4(BRCA1):c.2215A>G (p.Lys739Glu)
|
rs56329598
|
0.00001
|
|
NM_007294.4(BRCA1):c.2222C>G (p.Ser741Cys)
|
rs80357051
|
0.00001
|
|
NM_007294.4(BRCA1):c.2236G>A (p.Asp746Asn)
|
rs876660267
|
0.00001
|
|
NM_007294.4(BRCA1):c.2246A>T (p.Asp749Val)
|
rs730881479
|
0.00001
|
|
NM_007294.4(BRCA1):c.2252T>C (p.Met751Thr)
|
rs587781684
|
0.00001
|
|
NM_007294.4(BRCA1):c.2268G>C (p.Arg756Ser)
|
rs80356884
|
0.00001
|
|
NM_007294.4(BRCA1):c.2281G>C (p.Glu761Gln)
|
rs397507198
|
0.00001
|
|
NM_007294.4(BRCA1):c.2291T>C (p.Val764Ala)
|
rs1234701709
|
0.00001
|
|
NM_007294.4(BRCA1):c.22G>A (p.Val8Ile)
|
rs528902306
|
0.00001
|
|
NM_007294.4(BRCA1):c.230C>T (p.Thr77Met)
|
rs80357209
|
0.00001
|
|
NM_007294.4(BRCA1):c.2312T>C (p.Leu771Ser)
|
rs730881481
|
0.00001
|
|
NM_007294.4(BRCA1):c.2329T>G (p.Tyr777Asp)
|
rs397507199
|
0.00001
|
|
NM_007294.4(BRCA1):c.2339A>G (p.Gln780Arg)
|
rs1410232200
|
0.00001
|
|
NM_007294.4(BRCA1):c.2344A>G (p.Ser782Gly)
|
rs1433746078
|
0.00001
|
|
NM_007294.4(BRCA1):c.2362G>A (p.Val788Ile)
|
rs80357060
|
0.00001
|
|
NM_007294.4(BRCA1):c.2392C>T (p.Pro798Ser)
|
rs398122658
|
0.00001
|
|
NM_007294.4(BRCA1):c.2393C>T (p.Pro798Leu)
|
rs876660005
|
0.00001
|
|
NM_007294.4(BRCA1):c.2404G>C (p.Val802Leu)
|
rs876660885
|
0.00001
|
|
NM_007294.4(BRCA1):c.2416G>A (p.Ala806Thr)
|
rs80357144
|
0.00001
|
|
NM_007294.4(BRCA1):c.2425G>A (p.Glu809Lys)
|
rs786204151
|
0.00001
|
|
NM_007294.4(BRCA1):c.2468G>T (p.Arg823Ile)
|
rs876659731
|
0.00001
|
|
NM_007294.4(BRCA1):c.2481A>G (p.Glu827=)
|
rs397508970
|
0.00001
|
|
NM_007294.4(BRCA1):c.2483_2485del (p.Gly828_Phe829delinsVal)
|
rs80358331
|
0.00001
|
|
NM_007294.4(BRCA1):c.2503C>T (p.His835Tyr)
|
rs751656678
|
0.00001
|
|
NM_007294.4(BRCA1):c.2551G>A (p.Glu851Lys)
|
rs398122662
|
0.00001
|
|
NM_007294.4(BRCA1):c.2555T>C (p.Leu852Pro)
|
rs1555589415
|
0.00001
|
|
NM_007294.4(BRCA1):c.255G>T (p.Glu85Asp)
|
rs756499058
|
0.00001
|
|
NM_007294.4(BRCA1):c.2564A>C (p.Gln855Pro)
|
rs768001441
|
0.00001
|
|
NM_007294.4(BRCA1):c.2564A>T (p.Gln855Leu)
|
rs768001441
|
0.00001
|
|
NM_007294.4(BRCA1):c.2580A>G (p.Thr860=)
|
rs556684572
|
0.00001
|
|
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu)
|
rs80356927
|
0.00001
|
|
NM_007294.4(BRCA1):c.2613G>A (p.Pro871=)
|
rs587782608
|
0.00001
|
|
NM_007294.4(BRCA1):c.2630A>G (p.Asn877Ser)
|
rs786203689
|
0.00001
|
|
NM_007294.4(BRCA1):c.2666C>T (p.Ser889Phe)
|
rs769712441
|
0.00001
|
|
NM_007294.4(BRCA1):c.267C>G (p.Ile89Met)
|
rs80356963
|
0.00001
|
|
NM_007294.4(BRCA1):c.2690C>T (p.Pro897Leu)
|
rs587776484
|
0.00001
|
|
NM_007294.4(BRCA1):c.2706A>C (p.Glu902Asp)
|
rs398122665
|
0.00001
|
|
NM_007294.4(BRCA1):c.2747A>T (p.Asn916Ile)
|
rs864622588
|
0.00001
|
|
NM_007294.4(BRCA1):c.2750T>C (p.Ile917Thr)
|
rs587781492
|
0.00001
|
|
NM_007294.4(BRCA1):c.2758G>A (p.Val920Ile)
|
rs80357361
|
0.00001
|
|
NM_007294.4(BRCA1):c.2765C>G (p.Thr922Arg)
|
rs80357460
|
0.00001
|
|
NM_007294.4(BRCA1):c.2782G>A (p.Gly928Ser)
|
rs80356995
|
0.00001
|
|
NM_007294.4(BRCA1):c.2791G>T (p.Val931Leu)
|
rs763639161
|
0.00001
|
|
NM_007294.4(BRCA1):c.2819A>G (p.Asp940Gly)
|
rs745954644
|
0.00001
|
|
NM_007294.4(BRCA1):c.2882A>G (p.Asn961Ser)
|
rs879254130
|
0.00001
|
|
NM_007294.4(BRCA1):c.2885A>G (p.Glu962Gly)
|
rs780367532
|
0.00001
|
|
NM_007294.4(BRCA1):c.2902C>T (p.Pro968Ser)
|
rs1182090591
|
0.00001
|
|
NM_007294.4(BRCA1):c.2910A>C (p.Lys970Asn)
|
rs431825394
|
0.00001
|
|
NM_007294.4(BRCA1):c.2930C>T (p.Pro977Leu)
|
rs141465583
|
0.00001
|
|
NM_007294.4(BRCA1):c.2931A>G (p.Pro977=)
|
rs273899691
|
0.00001
|
|
NM_007294.4(BRCA1):c.2935C>T (p.Arg979Cys)
|
rs80356970
|
0.00001
|
|
NM_007294.4(BRCA1):c.2963C>T (p.Ser988Leu)
|
rs397507206
|
0.00001
|
|
NM_007294.4(BRCA1):c.2969T>C (p.Val990Ala)
|
rs760588785
|
0.00001
|
|
NM_007294.4(BRCA1):c.2981G>A (p.Cys994Tyr)
|
rs1238452758
|
0.00001
|
|
NM_007294.4(BRCA1):c.2999A>G (p.Glu1000Gly)
|
rs1060502330
|
0.00001
|
|
NM_007294.4(BRCA1):c.3004A>G (p.Asn1002Asp)
|
rs786202665
|
0.00001
|
|
NM_007294.4(BRCA1):c.301+10G>A
|
rs80358001
|
0.00001
|
|
NM_007294.4(BRCA1):c.3010G>C (p.Glu1004Gln)
|
rs786202534
|
0.00001
|
|
NM_007294.4(BRCA1):c.302-11G>A
|
rs1057521776
|
0.00001
|
|
NM_007294.4(BRCA1):c.3034A>G (p.Arg1012Gly)
|
rs1555588503
|
0.00001
|
|
NM_007294.4(BRCA1):c.3040A>T (p.Met1014Leu)
|
rs80356933
|
0.00001
|
|
NM_007294.4(BRCA1):c.3055A>G (p.Ile1019Val)
|
rs80357311
|
0.00001
|
|
NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys)
|
rs80357049
|
0.00001
|
|
NM_007294.4(BRCA1):c.3086A>G (p.Asn1029Ser)
|
rs753286589
|
0.00001
|
|
NM_007294.4(BRCA1):c.3091A>T (p.Ile1031Phe)
|
rs786203979
|
0.00001
|
|
NM_007294.4(BRCA1):c.3092T>G (p.Ile1031Ser)
|
rs863224758
|
0.00001
|
|
NM_007294.4(BRCA1):c.3116C>T (p.Ala1039Val)
|
rs1173254670
|
0.00001
|
|
NM_007294.4(BRCA1):c.3154A>G (p.Asn1052Asp)
|
rs768995134
|
0.00001
|
|
NM_007294.4(BRCA1):c.3155A>G (p.Asn1052Ser)
|
rs398122672
|
0.00001
|
|
NM_007294.4(BRCA1):c.3160G>A (p.Val1054Met)
|
rs876658479
|
0.00001
|
|
NM_007294.4(BRCA1):c.3166T>C (p.Ser1056Pro)
|
rs876659601
|
0.00001
|
|
NM_007294.4(BRCA1):c.3169A>G (p.Ser1057Gly)
|
rs80357479
|
0.00001
|
|
NM_007294.4(BRCA1):c.3211G>A (p.Glu1071Lys)
|
rs41293445
|
0.00001
|
|
NM_007294.4(BRCA1):c.3220A>G (p.Arg1074Gly)
|
rs80357263
|
0.00001
|
|
NM_007294.4(BRCA1):c.3221G>C (p.Arg1074Thr)
|
rs786202155
|
0.00001
|
|
NM_007294.4(BRCA1):c.3250C>A (p.Leu1084Ile)
|
rs879254009
|
0.00001
|
|
NM_007294.4(BRCA1):c.3257T>C (p.Leu1086Ser)
|
rs80357006
|
0.00001
|
|
NM_007294.4(BRCA1):c.3260G>C (p.Gly1087Ala)
|
rs80357172
|
0.00001
|
|
NM_007294.4(BRCA1):c.3267G>T (p.Leu1089Phe)
|
rs767544239
|
0.00001
|
|
NM_007294.4(BRCA1):c.3276G>T (p.Glu1092Asp)
|
rs764458412
|
0.00001
|
|
NM_007294.4(BRCA1):c.3305A>G (p.Asn1102Ser)
|
rs80356900
|
0.00001
|
|
NM_007294.4(BRCA1):c.3327A>C (p.Lys1109Asn)
|
rs41293449
|
0.00001
|
|
NM_007294.4(BRCA1):c.3345A>C (p.Glu1115Asp)
|
rs876658243
|
0.00001
|
|
NM_007294.4(BRCA1):c.3358G>A (p.Val1120Ile)
|
rs748894760
|
0.00001
|
|
NM_007294.4(BRCA1):c.3359T>A (p.Val1120Asp)
|
rs1361427704
|
0.00001
|
|
NM_007294.4(BRCA1):c.3367G>T (p.Asp1123Tyr)
|
rs80356867
|
0.00001
|
|
NM_007294.4(BRCA1):c.3377C>T (p.Pro1126Leu)
|
rs80356887
|
0.00001
|
|
NM_007294.4(BRCA1):c.3401A>T (p.Glu1134Val)
|
rs762744684
|
0.00001
|
|
NM_007294.4(BRCA1):c.3409A>G (p.Met1137Val)
|
rs771479616
|
0.00001
|
|
NM_007294.4(BRCA1):c.3411G>A (p.Met1137Ile)
|
rs786202900
|
0.00001
|
|
NM_007294.4(BRCA1):c.3416G>T (p.Ser1139Ile)
|
rs80357228
|
0.00001
|
|
NM_007294.4(BRCA1):c.3508A>G (p.Ile1170Val)
|
rs273899708
|
0.00001
|
|
NM_007294.4(BRCA1):c.3518G>A (p.Ser1173Asn)
|
rs746949187
|
0.00001
|
|
NM_007294.4(BRCA1):c.3533G>A (p.Ser1178Asn)
|
rs1294360179
|
0.00001
|
|
NM_007294.4(BRCA1):c.3541G>A (p.Val1181Ile)
|
rs56336919
|
0.00001
|
|
NM_007294.4(BRCA1):c.3560G>A (p.Ser1187Asn)
|
rs80356975
|
0.00001
|
|
NM_007294.4(BRCA1):c.3564G>C (p.Arg1188Ser)
|
rs879255484
|
0.00001
|
|
NM_007294.4(BRCA1):c.3572G>A (p.Ser1191Asn)
|
rs878854948
|
0.00001
|
|
NM_007294.4(BRCA1):c.3574C>T (p.Pro1192Ser)
|
rs754014157
|
0.00001
|
|
NM_007294.4(BRCA1):c.3587C>T (p.Thr1196Ile)
|
rs80356944
|
0.00001
|
|
NM_007294.4(BRCA1):c.3596C>T (p.Ala1199Val)
|
rs587782458
|
0.00001
|
|
NM_007294.4(BRCA1):c.3625T>G (p.Leu1209Val)
|
rs273900711
|
0.00001
|
|
NM_007294.4(BRCA1):c.3650C>G (p.Ser1217Cys)
|
rs398122676
|
0.00001
|
|
NM_007294.4(BRCA1):c.3652A>G (p.Ser1218Gly)
|
rs80356894
|
0.00001
|
|
NM_007294.4(BRCA1):c.3659A>T (p.Asp1220Val)
|
rs766572561
|
0.00001
|
|
NM_007294.4(BRCA1):c.3662A>C (p.Glu1221Ala)
|
rs273900713
|
0.00001
|
|
NM_007294.4(BRCA1):c.3707A>G (p.Asn1236Ser)
|
rs863224760
|
0.00001
|
|
NM_007294.4(BRCA1):c.3711A>G (p.Ile1237Met)
|
rs80357388
|
0.00001
|
|
NM_007294.4(BRCA1):c.3746C>G (p.Thr1249Ser)
|
rs80357099
|
0.00001
|
|
NM_007294.4(BRCA1):c.3750G>C (p.Glu1250Asp)
|
rs145903082
|
0.00001
|
|
NM_007294.4(BRCA1):c.3772G>A (p.Glu1258Lys)
|
rs397509105
|
0.00001
|
|
NM_007294.4(BRCA1):c.3784T>C (p.Ser1262Pro)
|
rs1011096937
|
0.00001
|
|
NM_007294.4(BRCA1):c.378A>G (p.Gln126=)
|
rs786201256
|
0.00001
|
|
NM_007294.4(BRCA1):c.3798C>A (p.Ser1266Arg)
|
rs200648498
|
0.00001
|
|
NM_007294.4(BRCA1):c.3800T>C (p.Leu1267Ser)
|
rs587782190
|
0.00001
|
|
NM_007294.4(BRCA1):c.3848A>G (p.His1283Arg)
|
rs80357047
|
0.00001
|
|
NM_007294.4(BRCA1):c.3857G>C (p.Ser1286Thr)
|
rs142383077
|
0.00001
|
|
NM_007294.4(BRCA1):c.3868A>G (p.Lys1290Glu)
|
rs80357254
|
0.00001
|
|
NM_007294.4(BRCA1):c.3889T>A (p.Ser1297Thr)
|
rs1450793674
|
0.00001
|
|
NM_007294.4(BRCA1):c.3902G>A (p.Ser1301Asn)
|
rs1057519496
|
0.00001
|
|
NM_007294.4(BRCA1):c.3944C>G (p.Pro1315Arg)
|
rs80357500
|
0.00001
|
|
NM_007294.4(BRCA1):c.3964A>C (p.Lys1322Gln)
|
rs80357343
|
0.00001
|
|
NM_007294.4(BRCA1):c.3965A>C (p.Lys1322Thr)
|
rs80357042
|
0.00001
|
|
NM_007294.4(BRCA1):c.3998T>C (p.Val1333Ala)
|
rs1135401872
|
0.00001
|
|
NM_007294.4(BRCA1):c.4006A>T (p.Ser1336Cys)
|
rs976725810
|
0.00001
|
|
NM_007294.4(BRCA1):c.4021G>A (p.Val1341Ile)
|
rs762908108
|
0.00001
|
|
NM_007294.4(BRCA1):c.4028A>T (p.Asp1343Val)
|
rs775339017
|
0.00001
|
|
NM_007294.4(BRCA1):c.4031A>G (p.Asp1344Gly)
|
rs55639854
|
0.00001
|
|
NM_007294.4(BRCA1):c.4045A>C (p.Thr1349Pro)
|
rs80357231
|
0.00001
|
|
NM_007294.4(BRCA1):c.4047G>A (p.Thr1349=)
|
rs758515222
|
0.00001
|
|
NM_007294.4(BRCA1):c.4073A>G (p.Glu1358Gly)
|
rs397507225
|
0.00001
|
|
NM_007294.4(BRCA1):c.4084G>A (p.Asp1362Asn)
|
rs775463394
|
0.00001
|
|
NM_007294.4(BRCA1):c.4097-10G>A
|
rs80358057
|
0.00001
|
|
NM_007294.4(BRCA1):c.4115G>A (p.Cys1372Tyr)
|
rs55848034
|
0.00001
|
|
NM_007294.4(BRCA1):c.4127C>G (p.Thr1376Arg)
|
rs80356986
|
0.00001
|
|
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn)
|
rs78951648
|
0.00001
|
|
NM_007294.4(BRCA1):c.4181C>T (p.Thr1394Ile)
|
rs397507226
|
0.00001
|
|
NM_007294.4(BRCA1):c.4185+9C>T
|
rs80358034
|
0.00001
|
|
NM_007294.4(BRCA1):c.4186-19C>T
|
rs80358016
|
0.00001
|
|
NM_007294.4(BRCA1):c.4204C>T (p.His1402Tyr)
|
rs80357365
|
0.00001
|
|
NM_007294.4(BRCA1):c.4209C>T (p.Asn1403=)
|
rs786201224
|
0.00001
|
|
NM_007294.4(BRCA1):c.4314C>G (p.Ala1438=)
|
rs80356856
|
0.00001
|
|
NM_007294.4(BRCA1):c.4342A>G (p.Ser1448Gly)
|
rs80357486
|
0.00001
|
|
NM_007294.4(BRCA1):c.4344C>T (p.Ser1448=)
|
rs1250691798
|
0.00001
|
|
NM_007294.4(BRCA1):c.4347A>G (p.Thr1449=)
|
rs80356840
|
0.00001
|
|
NM_007294.4(BRCA1):c.4357+14G>T
|
rs760989937
|
0.00001
|
|
NM_007294.4(BRCA1):c.4361T>C (p.Val1454Ala)
|
rs587782606
|
0.00001
|
|
NM_007294.4(BRCA1):c.441+8C>T
|
rs756130118
|
0.00001
|
|
NM_007294.4(BRCA1):c.4422T>C (p.Ala1474=)
|
rs756281673
|
0.00001
|
|
NM_007294.4(BRCA1):c.4485-8C>T
|
rs397507234
|
0.00001
|
|
NM_007294.4(BRCA1):c.4520G>C (p.Arg1507Thr)
|
rs80357470
|
0.00001
|
|
NM_007294.4(BRCA1):c.455T>C (p.Leu152Pro)
|
rs80357275
|
0.00001
|
|
NM_007294.4(BRCA1):c.4585A>G (p.Ile1529Val)
|
rs80357095
|
0.00001
|
|
NM_007294.4(BRCA1):c.4675+20A>G
|
rs780870669
|
0.00001
|
|
NM_007294.4(BRCA1):c.4675+7T>C
|
rs273900739
|
0.00001
|
|
NM_007294.4(BRCA1):c.4676-16C>G
|
rs80358067
|
0.00001
|
|
NM_007294.4(BRCA1):c.4730C>A (p.Ser1577Tyr)
|
rs273901741
|
0.00001
|
|
NM_007294.4(BRCA1):c.4750G>T (p.Ala1584Ser)
|
rs80357070
|
0.00001
|
|
NM_007294.4(BRCA1):c.4765C>T (p.Arg1589Cys)
|
rs80357002
|
0.00001
|
|
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu)
|
rs80356943
|
0.00001
|
|
NM_007294.4(BRCA1):c.484G>C (p.Val162Leu)
|
rs55816927
|
0.00001
|
|
NM_007294.4(BRCA1):c.4892G>A (p.Ser1631Asn)
|
rs273901742
|
0.00001
|
|
NM_007294.4(BRCA1):c.4894G>A (p.Val1632Met)
|
rs770193975
|
0.00001
|
|
NM_007294.4(BRCA1):c.4910C>T (p.Pro1637Leu)
|
rs80357048
|
0.00001
|
|
NM_007294.4(BRCA1):c.4949T>C (p.Met1650Thr)
|
rs778487856
|
0.00001
|
|
NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=)
|
rs786203868
|
0.00001
|
|
NM_007294.4(BRCA1):c.5024C>T (p.Thr1675Ile)
|
rs150729791
|
0.00001
|
|
NM_007294.4(BRCA1):c.5066T>C (p.Met1689Thr)
|
rs80357061
|
0.00001
|
|
NM_007294.4(BRCA1):c.5075-18G>A
|
rs1060504564
|
0.00001
|
|
NM_007294.4(BRCA1):c.5075-9A>T
|
rs80358059
|
0.00001
|
|
NM_007294.4(BRCA1):c.5101C>A (p.Leu1701Met)
|
rs910555398
|
0.00001
|
|
NM_007294.4(BRCA1):c.5129G>A (p.Gly1710Glu)
|
rs398122691
|
0.00001
|
|
NM_007294.4(BRCA1):c.5152+10A>G
|
rs80358114
|
0.00001
|
|
NM_007294.4(BRCA1):c.5153-13A>G
|
rs45471406
|
0.00001
|
|
NM_007294.4(BRCA1):c.5153-3T>C
|
rs375639469
|
0.00001
|
|
NM_007294.4(BRCA1):c.5317A>T (p.Thr1773Ser)
|
rs80357324
|
0.00001
|
|
NM_007294.4(BRCA1):c.5327C>T (p.Pro1776Leu)
|
rs398122695
|
0.00001
|
|
NM_007294.4(BRCA1):c.5332+15G>C
|
rs80358148
|
0.00001
|
|
NM_007294.4(BRCA1):c.5332+7G>T
|
rs773655919
|
0.00001
|
|
NM_007294.4(BRCA1):c.5333-7A>G
|
rs538969920
|
0.00001
|
|
NM_007294.4(BRCA1):c.5333A>G (p.Asp1778Gly)
|
rs80357041
|
0.00001
|
|
NM_007294.4(BRCA1):c.5416C>G (p.Pro1806Ala)
|
rs80357241
|
0.00001
|
|
NM_007294.4(BRCA1):c.5456A>G (p.Asn1819Ser)
|
rs80357286
|
0.00001
|
|
NM_007294.4(BRCA1):c.548-18T>G
|
rs397507251
|
0.00001
|
|
NM_007294.4(BRCA1):c.5481G>A (p.Met1827Ile)
|
rs587782432
|
0.00001
|
|
NM_007294.4(BRCA1):c.5501C>T (p.Thr1834Ile)
|
rs730881500
|
0.00001
|
|
NM_007294.4(BRCA1):c.5506G>A (p.Glu1836Lys)
|
rs80356942
|
0.00001
|
|
NM_007294.4(BRCA1):c.5538G>C (p.Gln1846His)
|
rs80356849
|
0.00001
|
|
NM_007294.4(BRCA1):c.5556C>G (p.Thr1852=)
|
rs80356841
|
0.00001
|
|
NM_007294.4(BRCA1):c.5573T>C (p.Ile1858Thr)
|
rs755427809
|
0.00001
|
|
NM_007294.4(BRCA1):c.5586C>T (p.His1862=)
|
rs774127304
|
0.00001
|
|
NM_007294.4(BRCA1):c.564A>G (p.Glu188=)
|
rs768065826
|
0.00001
|
|
NM_007294.4(BRCA1):c.593+9A>G
|
rs80358133
|
0.00001
|
|
NM_007294.4(BRCA1):c.61A>G (p.Ile21Val)
|
rs80357406
|
0.00001
|
|
NM_007294.4(BRCA1):c.655G>A (p.Asp219Asn)
|
rs273902779
|
0.00001
|
|
NM_007294.4(BRCA1):c.671-15T>A
|
rs80358058
|
0.00001
|
|
NM_007294.4(BRCA1):c.701C>A (p.Thr234Lys)
|
rs1555593290
|
0.00001
|
|
NM_007294.4(BRCA1):c.715C>T (p.His239Tyr)
|
rs1270749718
|
0.00001
|
|
NM_007294.4(BRCA1):c.716A>G (p.His239Arg)
|
rs80357396
|
0.00001
|
|
NM_007294.4(BRCA1):c.729T>G (p.Asn243Lys)
|
rs730881467
|
0.00001
|
|
NM_007294.4(BRCA1):c.734A>T (p.Asp245Val)
|
rs80356865
|
0.00001
|
|
NM_007294.4(BRCA1):c.755G>A (p.Arg252His)
|
rs80357138
|
0.00001
|
|
NM_007294.4(BRCA1):c.788G>A (p.Gly263Asp)
|
rs397509319
|
0.00001
|
|
NM_007294.4(BRCA1):c.799T>C (p.Ser267Pro)
|
rs587781496
|
0.00001
|
|
NM_007294.4(BRCA1):c.80+7C>T
|
rs80358098
|
0.00001
|
|
NM_007294.4(BRCA1):c.81-17C>G
|
rs757442952
|
0.00001
|
|
NM_007294.4(BRCA1):c.886A>G (p.Arg296Gly)
|
rs748675395
|
0.00001
|
|
NM_007294.4(BRCA1):c.905C>T (p.Ala302Val)
|
rs1418676444
|
0.00001
|
|
NM_007294.4(BRCA1):c.914G>T (p.Cys305Phe)
|
rs751124745
|
0.00001
|
|
NM_007294.4(BRCA1):c.919A>G (p.Lys307Glu)
|
rs1216516227
|
0.00001
|
|
NM_007294.4(BRCA1):c.923G>C (p.Ser308Thr)
|
rs561998108
|
0.00001
|
|
NM_007294.4(BRCA1):c.925A>G (p.Lys309Glu)
|
rs879255498
|
0.00001
|
|
NM_007294.4(BRCA1):c.93C>G (p.Ile31Met)
|
rs80357000
|
0.00001
|
|
NM_007294.4(BRCA1):c.982T>C (p.Cys328Arg)
|
rs748156170
|
0.00001
|
|
NM_007294.4(BRCA1):c.985A>T (p.Asn329Tyr)
|
rs786203732
|
0.00001
|
|
NM_007294.4(BRCA1):c.988G>A (p.Asp330Asn)
|
rs397507259
|
0.00001
|
|
NM_007294.4(BRCA1):c.995G>A (p.Arg332Gln)
|
rs80357464
|
0.00001
|
|
NM_007294.4(BRCA1):c.996G>T (p.Arg332=)
|
rs80356836
|
0.00001
|
|
NM_007317.3(KIF22):c.496C>T (p.Arg166Trp)
|
rs767054899
|
0.00001
|
|
NM_007325.5(GRIA3):c.328A>G (p.Met110Val)
|
rs756957362
|
0.00001
|
|
NM_007325.5(GRIA3):c.527C>T (p.Ala176Val)
|
rs764670975
|
0.00001
|
|
NM_007325.5(GRIA3):c.647G>A (p.Arg216Gln)
|
rs753214982
|
0.00001
|
|
NM_007327.4(GRIN1):c.957G>A (p.Pro319=)
|
rs766888803
|
0.00001
|
|
NM_007347.5(AP4E1):c.1458A>G (p.Gln486=)
|
rs557252541
|
0.00001
|
|
NM_007363.5(NONO):c.1172-11_1172-9del
|
rs759524596
|
0.00001
|
|
NM_007373.4(SHOC2):c.183A>G (p.Gln61=)
|
rs371640183
|
0.00001
|
|
NM_012062.5(DNM1L):c.198A>G (p.Gln66=)
|
rs764711165
|
0.00001
|
|
NM_012144.4(DNAI1):c.1395C>T (p.Leu465=)
|
rs764446899
|
0.00001
|
|
NM_012144.4(DNAI1):c.1665C>T (p.Val555=)
|
rs147469181
|
0.00001
|
|
NM_012144.4(DNAI1):c.1941C>T (p.Gly647=)
|
rs1022057422
|
0.00001
|
|
NM_012144.4(DNAI1):c.902-8T>C
|
rs755259202
|
0.00001
|
|
NM_012179.4(FBXO7):c.1527C>A (p.Pro509=)
|
rs758609287
|
0.00001
|
|
NM_012179.4(FBXO7):c.447G>A (p.Glu149=)
|
rs1012166328
|
0.00001
|
|
NM_012193.4(FZD4):c.729C>T (p.Ile243=)
|
rs560649393
|
0.00001
|
|
NM_012208.4(HARS2):c.184-3C>T
|
rs762549394
|
0.00001
|
|
NM_012210.4(TRIM32):c.1326T>A (p.Ile442=)
|
rs1372713940
|
0.00001
|
|
NM_012210.4(TRIM32):c.1386G>A (p.Val462=)
|
rs762905941
|
0.00001
|
|
NM_012243.3(SLC35A3):c.606A>G (p.Gln202=)
|
rs370227291
|
0.00001
|
|
NM_012254.3(SLC27A5):c.1182+7C>T
|
rs376013474
|
0.00001
|
|
NM_012275.3(IL36RN):c.333C>T (p.Phe111=)
|
rs199824136
|
0.00001
|
|
NM_012301.4(MAGI2):c.1425T>C (p.Tyr475=)
|
rs148086431
|
0.00001
|
|
NM_012418.4(FSCN2):c.1274-6C>T
|
rs1048819854
|
0.00001
|
|
NM_012431.3(SEMA3E):c.2220A>G (p.Lys740=)
|
rs765040215
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1272C>A (p.Ile424=)
|
rs374241516
|
0.00001
|
|
NM_012434.5(SLC17A5):c.573C>G (p.Pro191=)
|
rs924683894
|
0.00001
|
|
NM_012470.4(TNPO3):c.1810A>G (p.Ile604Val)
|
rs886043402
|
0.00001
|
|
NM_012470.4(TNPO3):c.189T>C (p.Ala63=)
|
rs755216120
|
0.00001
|
|
NM_012470.4(TNPO3):c.2545A>G (p.Thr849Ala)
|
rs566110160
|
0.00001
|
|
NM_012470.4(TNPO3):c.856C>T (p.Arg286Cys)
|
rs745576236
|
0.00001
|
|
NM_013275.6(ANKRD11):c.3418G>A (p.Ala1140Thr)
|
rs369869329
|
0.00001
|
|
NM_013275.6(ANKRD11):c.3467G>A (p.Arg1156Gln)
|
rs775910970
|
0.00001
|
|
NM_013328.4(PYCR2):c.160C>T (p.Arg54Cys)
|
rs149894811
|
0.00001
|
|
NM_013339.4(ALG6):c.430-9T>G
|
rs769256352
|
0.00001
|
|
NM_013339.4(ALG6):c.648C>G (p.Gly216=)
|
rs1270440540
|
0.00001
|
|
NM_013382.7(POMT2):c.629T>C (p.Met210Thr)
|
rs369654108
|
0.00001
|
|
NM_013382.7(POMT2):c.651C>T (p.Ala217=)
|
rs147845081
|
0.00001
|
|
NM_013444.4(UBQLN2):c.243A>G (p.Leu81=)
|
rs778382794
|
0.00001
|
|
NM_014000.3(VCL):c.1433A>G (p.Asn478Ser)
|
rs763235691
|
0.00001
|
|
NM_014000.3(VCL):c.1543+8C>G
|
rs886047218
|
0.00001
|
|
NM_014000.3(VCL):c.2852C>G (p.Pro951Arg)
|
rs368570586
|
0.00001
|
|
NM_014000.3(VCL):c.3186G>A (p.Gln1062=)
|
rs761534024
|
0.00001
|
|
NM_014000.3(VCL):c.3259-5T>C
|
rs1057523095
|
0.00001
|
|
NM_014000.3(VCL):c.36C>T (p.Ile12=)
|
rs774195260
|
0.00001
|
|
NM_014014.5(SNRNP200):c.3354C>T (p.Ile1118=)
|
rs376352502
|
0.00001
|
|
NM_014049.5(ACAD9):c.1062C>T (p.Tyr354=)
|
rs886057957
|
0.00001
|
|
NM_014049.5(ACAD9):c.1398C>T (p.Thr466=)
|
rs772732061
|
0.00001
|
|
NM_014049.5(ACAD9):c.1635C>T (p.Ala545=)
|
rs754646501
|
0.00001
|
|
NM_014049.5(ACAD9):c.284A>C (p.Asp95Ala)
|
rs761565265
|
0.00001
|
|
NM_014053.4(FLVCR1):c.501G>A (p.Leu167=)
|
rs886043715
|
0.00001
|
|
NM_014140.4(SMARCAL1):c.1360C>T (p.Leu454=)
|
rs753714268
|
0.00001
|
|
NM_014140.4(SMARCAL1):c.1374C>T (p.Asp458=)
|
rs200566186
|
0.00001
|
|
NM_014140.4(SMARCAL1):c.1944C>T (p.Ser648=)
|
rs752241342
|
0.00001
|
|
NM_014140.4(SMARCAL1):c.2316A>G (p.Gln772=)
|
rs1322248626
|
0.00001
|
|
NM_014140.4(SMARCAL1):c.780A>G (p.Ala260=)
|
rs1288231534
|
0.00001
|
|
NM_014141.6(CNTNAP2):c.3132G>A (p.Pro1044=)
|
rs761663690
|
0.00001
|
|
NM_014141.6(CNTNAP2):c.3402G>A (p.Val1134=)
|
rs727503877
|
0.00001
|
|
NM_014141.6(CNTNAP2):c.3476-7C>T
|
rs1057520468
|
0.00001
|
|
NM_014141.6(CNTNAP2):c.3651G>A (p.Ser1217=)
|
rs377455159
|
0.00001
|
|
NM_014141.6(CNTNAP2):c.687A>G (p.Glu229=)
|
rs767033703
|
0.00001
|
|
NM_014141.6(CNTNAP2):c.87C>T (p.Pro29=)
|
rs886062049
|
0.00001
|
|
NM_014159.7(SETD2):c.1849C>T (p.Pro617Ser)
|
rs372521251
|
0.00001
|
|
NM_014225.6(PPP2R1A):c.489G>T (p.Lys163Asn)
|
rs1474301500
|
0.00001
|
|
NM_014225.6(PPP2R1A):c.78+7A>C
|
rs1240197556
|
0.00001
|
|
NM_014239.4(EIF2B2):c.165G>A (p.Gly55=)
|
rs1365390122
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1278C>T (p.Gly426=)
|
rs746088783
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1413C>T (p.Phe471=)
|
rs751565994
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1428G>A (p.Pro476=)
|
rs374288519
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2290+15C>T
|
rs764259203
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2688C>T (p.Ala896=)
|
rs370747086
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2727C>T (p.Asn909=)
|
rs151261888
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2811G>A (p.Val937=)
|
rs557019144
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.2958+14C>T
|
rs755961602
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3089-7C>A
|
rs760424301
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.3351C>T (p.Asp1117=)
|
rs777279065
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.661C>G (p.Leu221Val)
|
rs756807336
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.669G>T (p.Gly223=)
|
rs886060495
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.819C>T (p.Gly273=)
|
rs751895494
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.996C>T (p.Ile332=)
|
rs767485549
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1236C>T (p.Asn412=)
|
rs747257110
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1665C>T (p.Gly555=)
|
rs199735534
|
0.00001
|
|
NM_014252.4(SLC25A15):c.225C>T (p.Ile75=)
|
rs765380976
|
0.00001
|
|
NM_014254.3(RXYLT1):c.250A>G (p.Ser84Gly)
|
rs745327804
|
0.00001
|
|
NM_014264.5(PLK4):c.1312T>C (p.Ser438Pro)
|
rs751170471
|
0.00001
|
|
NM_014271.4(IL1RAPL1):c.804A>C (p.Arg268Ser)
|
rs1198210140
|
0.00001
|
|
NM_014290.3(TDRD7):c.2955A>G (p.Gly985=)
|
rs201216195
|
0.00001
|
|
NM_014297.5(ETHE1):c.489G>A (p.Arg163=)
|
rs533076307
|
0.00001
|
|
NM_014317.5(PDSS1):c.139C>T (p.Arg47Trp)
|
rs756296695
|
0.00001
|
|
NM_014324.6(AMACR):c.366C>T (p.His122=)
|
rs775128044
|
0.00001
|
|
NM_014324.6(AMACR):c.48G>A (p.Pro16=)
|
rs144271819
|
0.00001
|
|
NM_014324.6(AMACR):c.714C>G (p.Pro238=)
|
rs200824585
|
0.00001
|
|
NM_014336.5(AIPL1):c.33G>C (p.Gly11=)
|
rs369223841
|
0.00001
|
|
NM_014336.5(AIPL1):c.645G>A (p.Glu215=)
|
rs1297434866
|
0.00001
|
|
NM_014336.5(AIPL1):c.939G>A (p.Ala313=)
|
rs200401166
|
0.00001
|
|
NM_014339.7(IL17RA):c.1045+7G>A
|
rs572837622
|
0.00001
|
|
NM_014339.7(IL17RA):c.1347C>T (p.Arg449=)
|
rs781731675
|
0.00001
|
|
NM_014339.7(IL17RA):c.1928G>A (p.Gly643Glu)
|
rs559058243
|
0.00001
|
|
NM_014339.7(IL17RA):c.36G>T (p.Pro12=)
|
rs886057200
|
0.00001
|
|
NM_014363.6(SACS):c.11887A>G (p.Met3963Val)
|
rs375613914
|
0.00001
|
|
NM_014363.6(SACS):c.13269A>T (p.Ser4423=)
|
rs1180908312
|
0.00001
|
|
NM_014363.6(SACS):c.13273G>A (p.Gly4425Arg)
|
rs754693143
|
0.00001
|
|
NM_014363.6(SACS):c.13284C>T (p.Tyr4428=)
|
rs753277514
|
0.00001
|
|
NM_014363.6(SACS):c.13538G>A (p.Ser4513Asn)
|
rs138328181
|
0.00001
|
|
NM_014363.6(SACS):c.1728C>T (p.Tyr576=)
|
rs750748828
|
0.00001
|
|
NM_014363.6(SACS):c.1846G>C (p.Ala616Pro)
|
rs200437752
|
0.00001
|
|
NM_014363.6(SACS):c.1907G>A (p.Arg636Gln)
|
rs368944813
|
0.00001
|
|
NM_014363.6(SACS):c.2471C>T (p.Ser824Leu)
|
rs762821420
|
0.00001
|
|
NM_014363.6(SACS):c.2509C>T (p.Pro837Ser)
|
rs769153924
|
0.00001
|
|
NM_014363.6(SACS):c.2585C>T (p.Pro862Leu)
|
rs776290829
|
0.00001
|
|
NM_014363.6(SACS):c.2611C>T (p.Pro871Ser)
|
rs370103461
|
0.00001
|
|
NM_014363.6(SACS):c.3017A>G (p.His1006Arg)
|
rs368149368
|
0.00001
|
|
NM_014363.6(SACS):c.3060A>G (p.Leu1020=)
|
rs746764976
|
0.00001
|
|
NM_014363.6(SACS):c.3417C>T (p.His1139=)
|
rs758862765
|
0.00001
|
|
NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala)
|
rs1443000762
|
0.00001
|
|
NM_014363.6(SACS):c.4597T>G (p.Ser1533Ala)
|
rs1230237404
|
0.00001
|
|
NM_014363.6(SACS):c.4612A>G (p.Ile1538Val)
|
rs544249449
|
0.00001
|
|
NM_014363.6(SACS):c.47G>T (p.Gly16Val)
|
rs886050090
|
0.00001
|
|
NM_014363.6(SACS):c.4840T>C (p.Phe1614Leu)
|
rs771080306
|
0.00001
|
|
NM_014363.6(SACS):c.4913G>A (p.Ser1638Asn)
|
rs774163551
|
0.00001
|
|
NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys)
|
rs1269546947
|
0.00001
|
|
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met)
|
rs368494148
|
0.00001
|
|
NM_014363.6(SACS):c.5848G>A (p.Asp1950Asn)
|
rs370902090
|
0.00001
|
|
NM_014363.6(SACS):c.5932G>A (p.Val1978Ile)
|
rs373812430
|
0.00001
|
|
NM_014363.6(SACS):c.60C>T (p.Cys20=)
|
rs932552006
|
0.00001
|
|
NM_014363.6(SACS):c.6235T>C (p.Phe2079Leu)
|
rs1364796862
|
0.00001
|
|
NM_014363.6(SACS):c.6383A>G (p.Asp2128Gly)
|
rs762352013
|
0.00001
|
|
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val)
|
rs1007936574
|
0.00001
|
|
NM_014363.6(SACS):c.8133G>A (p.Ser2711=)
|
rs143386746
|
0.00001
|
|
NM_014363.6(SACS):c.8166G>T (p.Met2722Ile)
|
rs1327898921
|
0.00001
|
|
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile)
|
rs772742353
|
0.00001
|
|
NM_014363.6(SACS):c.861C>T (p.Tyr287=)
|
rs200877272
|
0.00001
|
|
NM_014363.6(SACS):c.9173T>G (p.Leu3058Arg)
|
rs758654165
|
0.00001
|
|
NM_014363.6(SACS):c.9292A>G (p.Ile3098Val)
|
rs745664974
|
0.00001
|
|
NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys)
|
rs776143384
|
0.00001
|
|
NM_014363.6(SACS):c.9680A>C (p.Lys3227Thr)
|
rs765635417
|
0.00001
|
|
NM_014391.3(ANKRD1):c.256G>C (p.Asp86His)
|
rs573892607
|
0.00001
|
|
NM_014423.4(AFF4):c.2995A>G (p.Thr999Ala)
|
rs780871066
|
0.00001
|
|
NM_014425.5(INVS):c.1317C>T (p.Cys439=)
|
rs886063266
|
0.00001
|
|
NM_014585.6(SLC40A1):c.306A>G (p.Ser102=)
|
rs201485374
|
0.00001
|
|
NM_014585.6(SLC40A1):c.546G>A (p.Gln182=)
|
rs104893670
|
0.00001
|
|
NM_014714.4(IFT140):c.1452G>A (p.Thr484=)
|
rs914258252
|
0.00001
|
|
NM_014714.4(IFT140):c.1872G>A (p.Thr624=)
|
rs775156902
|
0.00001
|
|
NM_014714.4(IFT140):c.2945G>A (p.Arg982Gln)
|
rs766316995
|
0.00001
|
|
NM_014714.4(IFT140):c.298C>G (p.Leu100Val)
|
rs546498421
|
0.00001
|
|
NM_014714.4(IFT140):c.3402C>T (p.Ile1134=)
|
rs761692949
|
0.00001
|
|
NM_014714.4(IFT140):c.3501C>T (p.Thr1167=)
|
rs377319314
|
0.00001
|
|
NM_014714.4(IFT140):c.3525C>G (p.Thr1175=)
|
rs752664070
|
0.00001
|
|
NM_014714.4(IFT140):c.36G>A (p.Pro12=)
|
rs574028286
|
0.00001
|
|
NM_014714.4(IFT140):c.4026C>T (p.Phe1342=)
|
rs776522454
|
0.00001
|
|
NM_014714.4(IFT140):c.4251G>A (p.Pro1417=)
|
rs773095902
|
0.00001
|
|
NM_014714.4(IFT140):c.4278G>T (p.Gly1426=)
|
rs200161877
|
0.00001
|
|
NM_014714.4(IFT140):c.850G>A (p.Ala284Thr)
|
rs778404277
|
0.00001
|
|
NM_014727.3(KMT2B):c.2462G>T (p.Ser821Ile)
|
rs767324610
|
0.00001
|
|
NM_014727.3(KMT2B):c.3062G>A (p.Arg1021Gln)
|
rs376006013
|
0.00001
|
|
NM_014727.3(KMT2B):c.3604A>G (p.Met1202Val)
|
rs755470297
|
0.00001
|
|
NM_014727.3(KMT2B):c.5429C>T (p.Pro1810Leu)
|
rs1378884779
|
0.00001
|
|
NM_014727.3(KMT2B):c.5908C>A (p.Pro1970Thr)
|
rs991657581
|
0.00001
|
|
NM_014780.5(CUL7):c.1005G>A (p.Leu335=)
|
rs201310376
|
0.00001
|
|
NM_014780.5(CUL7):c.4068A>G (p.Glu1356=)
|
rs886043610
|
0.00001
|
|
NM_014795.4(ZEB2):c.1112A>T (p.Asn371Ile)
|
rs1290033369
|
0.00001
|
|
NM_014795.4(ZEB2):c.1288C>T (p.Pro430Ser)
|
rs753804606
|
0.00001
|
|
NM_014795.4(ZEB2):c.2365T>C (p.Ser789Pro)
|
rs730881197
|
0.00001
|
|
NM_014795.4(ZEB2):c.2390A>G (p.His797Arg)
|
rs201227541
|
0.00001
|
|
NM_014795.4(ZEB2):c.388A>G (p.Ile130Val)
|
rs1057520175
|
0.00001
|
|
NM_014795.4(ZEB2):c.773G>A (p.Arg258Gln)
|
rs730881173
|
0.00001
|
|
NM_014844.5(TECPR2):c.2700C>T (p.Ser900=)
|
rs545614481
|
0.00001
|
|
NM_014844.5(TECPR2):c.3399G>A (p.Thr1133=)
|
rs765318084
|
0.00001
|
|
NM_014844.5(TECPR2):c.879A>G (p.Ser293=)
|
rs770891190
|
0.00001
|
|
NM_014855.3(AP5Z1):c.1119C>T (p.Phe373=)
|
rs886062353
|
0.00001
|
|
NM_014855.3(AP5Z1):c.1597T>C (p.Leu533=)
|
rs775572689
|
0.00001
|
|
NM_014855.3(AP5Z1):c.1707+14C>T
|
rs759055397
|
0.00001
|
|
NM_014855.3(AP5Z1):c.1863G>A (p.Glu621=)
|
rs780422345
|
0.00001
|
|
NM_014855.3(AP5Z1):c.392C>T (p.Ala131Val)
|
rs372539355
|
0.00001
|
|
NM_014874.4(MFN2):c.1724G>A (p.Arg575His)
|
rs564375950
|
0.00001
|
|
NM_014874.4(MFN2):c.2204+13C>T
|
rs200441797
|
0.00001
|
|
NM_014915.3(ANKRD26):c.513T>C (p.Asn171=)
|
rs745670666
|
0.00001
|
|
NM_014946.4(SPAST):c.626C>T (p.Thr209Met)
|
rs537855621
|
0.00001
|
|
NM_014989.7(RIMS1):c.2241T>C (p.Ser747=)
|
rs760492397
|
0.00001
|
|
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln)
|
rs543247171
|
0.00001
|
|
NM_015080.4(NRXN2):c.2124C>T (p.Gly708=)
|
rs146517173
|
0.00001
|
|
NM_015102.5(NPHP4):c.3234C>G (p.Ala1078=)
|
rs1036816659
|
0.00001
|
|
NM_015102.5(NPHP4):c.3927C>T (p.Asp1309=)
|
rs377183096
|
0.00001
|
|
NM_015102.5(NPHP4):c.510C>T (p.Pro170=)
|
rs545943420
|
0.00001
|
|
NM_015122.3(FCHO1):c.336+6T>A
|
rs749004797
|
0.00001
|
|
NM_015158.5(KANK1):c.3897+6C>T
|
rs372609027
|
0.00001
|
|
NM_015166.4(MLC1):c.882G>A (p.Pro294=)
|
rs200163312
|
0.00001
|
|
NM_015178.3(RHOBTB2):c.1304C>T (p.Thr435Met)
|
rs778292046
|
0.00001
|
|
NM_015178.3(RHOBTB2):c.508C>T (p.Pro170Ser)
|
rs761440038
|
0.00001
|
|
NM_015192.4(PLCB1):c.1668A>G (p.Glu556=)
|
rs886056963
|
0.00001
|
|
NM_015192.4(PLCB1):c.3447A>G (p.Glu1149=)
|
rs142432676
|
0.00001
|
|
NM_015192.4(PLCB1):c.456G>A (p.Leu152=)
|
rs200598979
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3451A>C (p.Ile1151Leu)
|
rs886038619
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr)
|
rs780770984
|
0.00001
|
|
NM_015295.3(SMCHD1):c.3277-5C>T
|
rs542259388
|
0.00001
|
|
NM_015338.6(ASXL1):c.1717C>T (p.Arg573Trp)
|
rs373685182
|
0.00001
|
|
NM_015338.6(ASXL1):c.2417C>T (p.Thr806Ile)
|
rs775227254
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.1272-10T>C
|
rs773153713
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.1819G>A (p.Gly607Arg)
|
rs142015707
|
0.00001
|
|
NM_015346.4(ZFYVE26):c.6870A>G (p.Ser2290=)
|
rs766701632
|
0.00001
|
|
NM_015404.4(WHRN):c.1632T>C (p.Thr544=)
|
rs759107735
|
0.00001
|
|
NM_015404.4(WHRN):c.376G>A (p.Ala126Thr)
|
rs1444564272
|
0.00001
|
|
NM_015443.4(KANSL1):c.2194A>G (p.Thr732Ala)
|
rs1036089094
|
0.00001
|
|
NM_015443.4(KANSL1):c.2860C>T (p.Arg954Trp)
|
rs1322831151
|
0.00001
|
|
NM_015443.4(KANSL1):c.2861G>A (p.Arg954Gln)
|
rs376635152
|
0.00001
|
|
NM_015443.4(KANSL1):c.3019C>T (p.Arg1007Trp)
|
rs1057522661
|
0.00001
|
|
NM_015450.3(POT1):c.1369+10T>A
|
rs773549874
|
0.00001
|
|
NM_015450.3(POT1):c.899A>G (p.Asn300Ser)
|
rs573222502
|
0.00001
|
|
NM_015450.3(POT1):c.916A>G (p.Ile306Val)
|
rs1415345156
|
0.00001
|
|
NM_015474.4(SAMHD1):c.1725C>T (p.Asp575=)
|
rs1448113794
|
0.00001
|
|
NM_015474.4(SAMHD1):c.840C>T (p.Val280=)
|
rs17853622
|
0.00001
|
|
NM_015506.3(MMACHC):c.687A>G (p.Gln229=)
|
rs369621922
|
0.00001
|
|
NM_015559.3(SETBP1):c.1910C>T (p.Pro637Leu)
|
rs1011541536
|
0.00001
|
|
NM_015559.3(SETBP1):c.1963C>T (p.Leu655Phe)
|
rs764969329
|
0.00001
|
|
NM_015559.3(SETBP1):c.2212C>T (p.Pro738Ser)
|
rs1160869968
|
0.00001
|
|
NM_015559.3(SETBP1):c.2741G>A (p.Arg914Gln)
|
rs777653524
|
0.00001
|
|
NM_015559.3(SETBP1):c.3175C>T (p.Pro1059Ser)
|
rs1224731205
|
0.00001
|
|
NM_015559.3(SETBP1):c.3427T>C (p.Ser1143Pro)
|
rs762890510
|
0.00001
|
|
NM_015559.3(SETBP1):c.3485G>A (p.Arg1162Gln)
|
rs751046263
|
0.00001
|
|
NM_015559.3(SETBP1):c.3818C>T (p.Thr1273Met)
|
rs958733748
|
0.00001
|
|
NM_015559.3(SETBP1):c.4001-7T>A
|
rs767918557
|
0.00001
|
|
NM_015559.3(SETBP1):c.4469G>C (p.Ser1490Thr)
|
rs1193044740
|
0.00001
|
|
NM_015559.3(SETBP1):c.4642C>G (p.Pro1548Ala)
|
rs1274960889
|
0.00001
|
|
NM_015570.4(AUTS2):c.2335G>A (p.Asp779Asn)
|
rs147106727
|
0.00001
|
|
NM_015570.4(AUTS2):c.3184C>T (p.Pro1062Ser)
|
rs1057521756
|
0.00001
|
|
NM_015570.4(AUTS2):c.770C>G (p.Pro257Arg)
|
rs200108105
|
0.00001
|
|
NM_015599.3(PGM3):c.219A>G (p.Val73=)
|
rs752657453
|
0.00001
|
|
NM_015627.3(LDLRAP1):c.88+8T>A
|
rs2043860268
|
0.00001
|
|
NM_015629.4(PRPF31):c.1140C>T (p.Phe380=)
|
rs1411083098
|
0.00001
|
|
NM_015629.4(PRPF31):c.837C>T (p.Ile279=)
|
rs1374316824
|
0.00001
|
|
NM_015662.3(IFT172):c.1444G>A (p.Val482Ile)
|
rs771104054
|
0.00001
|
|
NM_015662.3(IFT172):c.3769C>T (p.Leu1257=)
|
rs373382907
|
0.00001
|
|
NM_015909.4(NBAS):c.3839G>A (p.Arg1280Gln)
|
rs149082253
|
0.00001
|
|
NM_015909.4(NBAS):c.5569A>G (p.Thr1857Ala)
|
rs758233969
|
0.00001
|
|
NM_015909.4(NBAS):c.6124A>G (p.Met2042Val)
|
rs745940158
|
0.00001
|
|
NM_015910.7(WDPCP):c.655G>A (p.Gly219Ser)
|
rs761312526
|
0.00001
|
|
NM_015915.5(ATL1):c.1623T>G (p.Ala541=)
|
rs777479928
|
0.00001
|
|
NM_015915.5(ATL1):c.300T>G (p.Val100=)
|
rs863224772
|
0.00001
|
|
NM_015922.3(NSDHL):c.265C>G (p.Gln89Glu)
|
rs145580873
|
0.00001
|
|
NM_015978.3(TNNI3K):c.1051G>A (p.Gly351Ser)
|
rs777466193
|
0.00001
|
|
NM_016013.4(NDUFAF1):c.143A>G (p.Lys48Arg)
|
rs780200320
|
0.00001
|
|
NM_016042.4(EXOSC3):c.325-6T>C
|
rs375827861
|
0.00001
|
|
NM_016097.5(IER3IP1):c.92-10C>T
|
rs772039958
|
0.00001
|
|
NM_016169.4(SUFU):c.1016G>A (p.Arg339Gln)
|
rs369910221
|
0.00001
|
|
NM_016169.4(SUFU):c.894G>T (p.Arg298=)
|
rs372636246
|
0.00001
|
|
NM_016203.4(PRKAG2):c.186+7C>T
|
rs886062102
|
0.00001
|
|
NM_016203.4(PRKAG2):c.202G>A (p.Gly68Ser)
|
rs730880970
|
0.00001
|
|
NM_016203.4(PRKAG2):c.42T>A (p.Val14=)
|
rs141316327
|
0.00001
|
|
NM_016203.4(PRKAG2):c.685-7C>A
|
rs397517278
|
0.00001
|
|
NM_016203.4(PRKAG2):c.703C>T (p.Leu235=)
|
rs1476121151
|
0.00001
|
|
NM_016204.4(GDF2):c.252G>A (p.Glu84=)
|
rs1410431494
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1110C>G (p.Ser370=)
|
rs776601946
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1626C>T (p.Pro542=)
|
rs754107444
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1998G>A (p.Lys666=)
|
rs150436630
|
0.00001
|
|
NM_016219.5(MAN1B1):c.2016C>T (p.Phe672=)
|
rs746212127
|
0.00001
|
|
NM_016219.5(MAN1B1):c.639C>T (p.Ile213=)
|
rs368545529
|
0.00001
|
|
NM_016219.5(MAN1B1):c.882G>A (p.Ala294=)
|
rs750236367
|
0.00001
|
|
NM_016222.4(DDX41):c.1650G>A (p.Ala550=)
|
rs747056004
|
0.00001
|
|
NM_016222.4(DDX41):c.1665C>T (p.Ala555=)
|
rs1356103698
|
0.00001
|
|
NM_016222.4(DDX41):c.645-10C>T
|
rs780120166
|
0.00001
|
|
NM_016239.4(MYO15A):c.3841G>A (p.Gly1281Arg)
|
rs576515898
|
0.00001
|
|
NM_016239.4(MYO15A):c.6530G>A (p.Arg2177Gln)
|
rs575546518
|
0.00001
|
|
NM_016239.4(MYO15A):c.9815G>A (p.Arg3272His)
|
rs199866618
|
0.00001
|
|
NM_016277.5(RAB23):c.93A>G (p.Lys31=)
|
rs201735614
|
0.00001
|
|
NM_016464.5(TMEM138):c.420A>G (p.Arg140=)
|
rs548368196
|
0.00001
|
|
NM_016464.5(TMEM138):c.482G>A (p.Arg161Gln)
|
rs569659022
|
0.00001
|
|
NM_016599.5(MYOZ2):c.247-3C>T
|
rs774202003
|
0.00001
|
|
NM_016729.3(FOLR1):c.261C>T (p.Asn87=)
|
rs375444839
|
0.00001
|
|
NM_016729.3(FOLR1):c.57A>G (p.Val19=)
|
rs769589754
|
0.00001
|
|
NM_016729.3(FOLR1):c.588C>T (p.Ser196=)
|
rs755278391
|
0.00001
|
|
NM_016729.3(FOLR1):c.678G>A (p.Ala226=)
|
rs531930335
|
0.00001
|
|
NM_016938.5(EFEMP2):c.639C>T (p.Cys213=)
|
rs199606204
|
0.00001
|
|
NM_016955.4(SEPSECS):c.489G>A (p.Lys163=)
|
rs587780457
|
0.00001
|
|
NM_017534.6(MYH2):c.1251C>A (p.Gly417=)
|
rs746987085
|
0.00001
|
|
NM_017534.6(MYH2):c.2305-11T>G
|
rs369500791
|
0.00001
|
|
NM_017534.6(MYH2):c.3263+11A>G
|
rs890845570
|
0.00001
|
|
NM_017534.6(MYH2):c.4696C>T (p.Arg1566Cys)
|
rs529367667
|
0.00001
|
|
NM_017534.6(MYH2):c.688C>T (p.Leu230=)
|
rs375063863
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1094G>A (p.Arg365His)
|
rs775991013
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1220C>T (p.Pro407Leu)
|
rs754529382
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1380G>A (p.Pro460=)
|
rs368963607
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1676C>T (p.Thr559Met)
|
rs376055493
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1924C>G (p.Leu642Val)
|
rs755740633
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3350A>G (p.Gln1117Arg)
|
rs764816819
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3404C>T (p.Ala1135Val)
|
rs370300490
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3482C>T (p.Thr1161Met)
|
rs769903954
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3991G>A (p.Gly1331Arg)
|
rs769908800
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4066C>T (p.Arg1356Cys)
|
rs587778567
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4571C>T (p.Ala1524Val)
|
rs774374213
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val)
|
rs748862853
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4880G>A (p.Arg1627His)
|
rs946083212
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5092G>A (p.Asp1698Asn)
|
rs1417478070
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5413C>T (p.Leu1805Phe)
|
rs775497405
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5495C>G (p.Pro1832Arg)
|
rs1425070721
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5560C>T (p.Arg1854Cys)
|
rs376689092
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5981A>G (p.Asp1994Gly)
|
rs1454512890
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6422C>T (p.Ser2141Leu)
|
rs767822693
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6781G>T (p.Gly2261Cys)
|
rs768817065
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6895G>A (p.Gly2299Ser)
|
rs1020747496
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7128G>T (p.Gln2376His)
|
rs369935287
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7150C>G (p.Gln2384Glu)
|
rs375119074
|
0.00001
|
|
NM_017617.5(NOTCH1):c.751G>A (p.Gly251Ser)
|
rs755667439
|
0.00001
|
|
NM_017617.5(NOTCH1):c.949G>A (p.Gly317Ser)
|
rs749696049
|
0.00001
|
|
NM_017636.4(TRPM4):c.1473A>G (p.Leu491=)
|
rs142739227
|
0.00001
|
|
NM_017636.4(TRPM4):c.1515T>A (p.His505Gln)
|
rs1202211366
|
0.00001
|
|
NM_017636.4(TRPM4):c.2229G>A (p.Glu743=)
|
rs745667706
|
0.00001
|
|
NM_017636.4(TRPM4):c.2231A>T (p.Lys744Met)
|
rs569301210
|
0.00001
|
|
NM_017636.4(TRPM4):c.2403G>T (p.Leu801=)
|
rs1455410186
|
0.00001
|
|
NM_017636.4(TRPM4):c.291G>A (p.Thr97=)
|
rs886054576
|
0.00001
|
|
NM_017636.4(TRPM4):c.3489A>G (p.Gly1163=)
|
rs760190293
|
0.00001
|
|
NM_017636.4(TRPM4):c.837T>C (p.Asp279=)
|
rs373391017
|
0.00001
|
|
NM_017654.4(SAMD9):c.1052A>T (p.Asp351Val)
|
rs757652918
|
0.00001
|
|
NM_017654.4(SAMD9):c.3176A>G (p.His1059Arg)
|
rs377438913
|
0.00001
|
|
NM_017654.4(SAMD9):c.4597C>A (p.Arg1533=)
|
rs375396225
|
0.00001
|
|
NM_017668.3(NDE1):c.513T>C (p.Asp171=)
|
rs794727785
|
0.00001
|
|
NM_017668.3(NDE1):c.909A>T (p.Arg303Ser)
|
rs538373943
|
0.00001
|
|
NM_017668.3(NDE1):c.947+11990G>A
|
rs745371874
|
0.00001
|
|
NM_017668.3(NDE1):c.948-3872G>A
|
rs375652279
|
0.00001
|
|
NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=)
|
rs200730202
|
0.00001
|
|
NM_017755.6(NSUN2):c.822C>T (p.Asp274=)
|
rs141802308
|
0.00001
|
|
NM_017777.4(MKS1):c.959-8T>G
|
rs763444295
|
0.00001
|
|
NM_017780.4(CHD7):c.1512A>G (p.Gln504=)
|
rs587783430
|
0.00001
|
|
NM_017780.4(CHD7):c.1696C>G (p.Pro566Ala)
|
rs764518030
|
0.00001
|
|
NM_017780.4(CHD7):c.2613+4C>T
|
rs779615403
|
0.00001
|
|
NM_017780.4(CHD7):c.3463C>T (p.Arg1155Cys)
|
rs201769233
|
0.00001
|
|
NM_017780.4(CHD7):c.5514G>A (p.Met1838Ile)
|
rs374602567
|
0.00001
|
|
NM_017780.4(CHD7):c.6321C>T (p.His2107=)
|
rs778800676
|
0.00001
|
|
NM_017780.4(CHD7):c.6817A>G (p.Asn2273Asp)
|
rs1329129099
|
0.00001
|
|
NM_017780.4(CHD7):c.6851G>A (p.Arg2284Gln)
|
rs542880173
|
0.00001
|
|
NM_017780.4(CHD7):c.73G>A (p.Gly25Arg)
|
rs759887905
|
0.00001
|
|
NM_017780.4(CHD7):c.768C>T (p.Phe256=)
|
rs727503859
|
0.00001
|
|
NM_017780.4(CHD7):c.8141C>T (p.Ala2714Val)
|
rs573554562
|
0.00001
|
|
NM_017780.4(CHD7):c.839C>G (p.Pro280Arg)
|
rs760775347
|
0.00001
|
|
NM_017780.4(CHD7):c.860C>T (p.Pro287Leu)
|
rs762290343
|
0.00001
|
|
NM_017831.4(RNF125):c.122T>C (p.Leu41Pro)
|
rs979916916
|
0.00001
|
|
NM_017837.4(PIGV):c.1317T>C (p.Leu439=)
|
rs959088580
|
0.00001
|
|
NM_017849.4(TMEM127):c.130C>T (p.Leu44=)
|
rs754493061
|
0.00001
|
|
NM_017849.4(TMEM127):c.313C>T (p.Leu105=)
|
rs754465684
|
0.00001
|
|
NM_017849.4(TMEM127):c.354G>A (p.Pro118=)
|
rs1392614291
|
0.00001
|
|
NM_017875.4(SLC25A38):c.288A>G (p.Arg96=)
|
rs765578993
|
0.00001
|
|
NM_017934.7(PHIP):c.4941T>A (p.Val1647=)
|
rs1369466541
|
0.00001
|
|
NM_017950.4(CCDC40):c.1246C>T (p.Arg416Cys)
|
rs1489341724
|
0.00001
|
|
NM_017950.4(CCDC40):c.3245G>A (p.Arg1082His)
|
rs773033304
|
0.00001
|
|
NM_018006.5(TRMU):c.369T>C (p.Ile123=)
|
rs546183296
|
0.00001
|
|
NM_018006.5(TRMU):c.579G>T (p.Gly193=)
|
rs1294405938
|
0.00001
|
|
NM_018006.5(TRMU):c.651+9G>A
|
rs1006261196
|
0.00001
|
|
NM_018006.5(TRMU):c.705+10del
|
rs1569081805
|
0.00001
|
|
NM_018006.5(TRMU):c.879C>T (p.Pro293=)
|
rs781401971
|
0.00001
|
|
NM_018006.5(TRMU):c.954C>T (p.Pro318=)
|
rs758271660
|
0.00001
|
|
NM_018013.4(SOBP):c.219C>T (p.His73=)
|
rs759344534
|
0.00001
|
|
NM_018026.4(PACS1):c.650A>G (p.Asn217Ser)
|
rs767885129
|
0.00001
|
|
NM_018100.4(EFHC1):c.1194T>C (p.Phe398=)
|
rs201946033
|
0.00001
|
|
NM_018129.4(PNPO):c.544G>A (p.Glu182Lys)
|
rs138727329
|
0.00001
|
|
NM_018136.5(ASPM):c.174A>T (p.Gly58=)
|
rs908430857
|
0.00001
|
|
NM_018136.5(ASPM):c.1840G>C (p.Val614Leu)
|
rs199813531
|
0.00001
|
|
NM_018136.5(ASPM):c.2893G>A (p.Val965Ile)
|
rs778251863
|
0.00001
|
|
NM_018136.5(ASPM):c.2977A>G (p.Lys993Glu)
|
rs576139929
|
0.00001
|
|
NM_018136.5(ASPM):c.4951A>G (p.Met1651Val)
|
rs772751994
|
0.00001
|
|
NM_018136.5(ASPM):c.6107T>G (p.Val2036Gly)
|
rs763984813
|
0.00001
|
|
NM_018136.5(ASPM):c.6457T>C (p.Tyr2153His)
|
rs1183851640
|
0.00001
|
|
NM_018249.6(CDK5RAP2):c.4962C>T (p.His1654=)
|
rs764342492
|
0.00001
|
|
NM_018344.6(SLC29A3):c.138C>T (p.Pro46=)
|
rs374417695
|
0.00001
|
|
NM_018344.6(SLC29A3):c.624C>T (p.Gly208=)
|
rs757865136
|
0.00001
|
|
NM_018344.6(SLC29A3):c.804T>C (p.His268=)
|
rs896755457
|
0.00001
|
|
NM_018368.4(LMBRD1):c.867T>A (p.Ile289=)
|
rs747318789
|
0.00001
|
|
NM_018389.5(SLC35C1):c.666G>A (p.Ala222=)
|
rs754930082
|
0.00001
|
|
NM_018389.5(SLC35C1):c.837C>T (p.Ala279=)
|
rs371692301
|
0.00001
|
|
NM_018418.5(SPATA7):c.19+7G>A
|
rs199560035
|
0.00001
|
|
NM_018418.5(SPATA7):c.372+11A>G
|
rs757636745
|
0.00001
|
|
NM_018451.5(CENPJ):c.1371G>A (p.Pro457=)
|
rs770254231
|
0.00001
|
|
NM_018451.5(CENPJ):c.2457T>C (p.Tyr819=)
|
rs780573822
|
0.00001
|
|
NM_018668.5(VPS33B):c.456G>T (p.Leu152=)
|
rs997425993
|
0.00001
|
|
NM_018684.4(ZC4H2):c.469G>A (p.Ala157Thr)
|
rs756615930
|
0.00001
|
|
NM_018714.3(COG1):c.2682C>T (p.Asn894=)
|
rs781686684
|
0.00001
|
|
NM_018834.6(MATR3):c.1879C>G (p.Gln627Glu)
|
rs772231433
|
0.00001
|
|
NM_018941.4(CLN8):c.256C>T (p.Leu86=)
|
rs755248868
|
0.00001
|
|
NM_018979.4(WNK1):c.131C>T (p.Ala44Val)
|
rs754447060
|
0.00001
|
|
NM_018979.4(WNK1):c.397G>A (p.Val133Ile)
|
rs753342253
|
0.00001
|
|
NM_018979.4(WNK1):c.5312G>T (p.Gly1771Val)
|
rs770566791
|
0.00001
|
|
NM_018979.4(WNK1):c.5442G>A (p.Ala1814=)
|
rs557930357
|
0.00001
|
|
NM_018979.4(WNK1):c.5584-5A>G
|
rs771801197
|
0.00001
|
|
NM_019066.5(MAGEL2):c.2092G>A (p.Gly698Arg)
|
rs752045093
|
0.00001
|
|
NM_019066.5(MAGEL2):c.42G>A (p.Pro14=)
|
rs794726942
|
0.00001
|
|
NM_019066.5(MAGEL2):c.789T>C (p.Pro263=)
|
rs993057859
|
0.00001
|
|
NM_019594.4(LRRC8A):c.889G>A (p.Val297Met)
|
rs376268338
|
0.00001
|
|
NM_019892.6(INPP5E):c.1530C>T (p.Leu510=)
|
rs780119172
|
0.00001
|
|
NM_019892.6(INPP5E):c.1686C>T (p.Ser562=)
|
rs760729838
|
0.00001
|
|
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=)
|
rs763713221
|
0.00001
|
|
NM_020166.5(MCCC1):c.1722T>C (p.Tyr574=)
|
rs747015041
|
0.00001
|
|
NM_020166.5(MCCC1):c.1839C>A (p.Ile613=)
|
rs201782543
|
0.00001
|
|
NM_020166.5(MCCC1):c.9G>A (p.Ala3=)
|
rs1191355416
|
0.00001
|
|
NM_020223.4(FAM20C):c.915C>T (p.Tyr305=)
|
rs150808056
|
0.00001
|
|
NM_020247.5(COQ8A):c.1049A>G (p.Lys350Arg)
|
rs548317868
|
0.00001
|
|
NM_020247.5(COQ8A):c.1613G>A (p.Arg538Gln)
|
rs768524626
|
0.00001
|
|
NM_020247.5(COQ8A):c.1753G>C (p.Glu585Gln)
|
rs758986425
|
0.00001
|
|
NM_020247.5(COQ8A):c.1773T>C (p.Ile591=)
|
rs369502091
|
0.00001
|
|
NM_020247.5(COQ8A):c.358G>A (p.Val120Met)
|
rs376347405
|
0.00001
|
|
NM_020247.5(COQ8A):c.957C>T (p.Asp319=)
|
rs764147237
|
0.00001
|
|
NM_020297.4(ABCC9):c.1129A>G (p.Ile377Val)
|
rs567016348
|
0.00001
|
|
NM_020297.4(ABCC9):c.1603T>C (p.Tyr535His)
|
rs397517184
|
0.00001
|
|
NM_020297.4(ABCC9):c.1659+10T>C
|
rs201753781
|
0.00001
|
|
NM_020297.4(ABCC9):c.1875G>A (p.Ser625=)
|
rs727502873
|
0.00001
|
|
NM_020297.4(ABCC9):c.2199-6T>C
|
rs535477725
|
0.00001
|
|
NM_020297.4(ABCC9):c.3669+10T>C
|
rs199640712
|
0.00001
|
|
NM_020297.4(ABCC9):c.4103-14T>C
|
rs1462468885
|
0.00001
|
|
NM_020297.4(ABCC9):c.4512T>A (p.Ala1504=)
|
rs777591544
|
0.00001
|
|
NM_020320.5(RARS2):c.1678C>T (p.Arg560Cys)
|
rs562472225
|
0.00001
|
|
NM_020366.4(RPGRIP1):c.3239-14C>T
|
rs542859849
|
0.00001
|
|
NM_020376.4(PNPLA2):c.1491C>T (p.Pro497=)
|
rs1434319423
|
0.00001
|
|
NM_020376.4(PNPLA2):c.687G>A (p.Pro229=)
|
rs371893260
|
0.00001
|
|
NM_020376.4(PNPLA2):c.781T>C (p.Leu261=)
|
rs758918583
|
0.00001
|
|
NM_020376.4(PNPLA2):c.912C>A (p.Leu304=)
|
rs886048710
|
0.00001
|
|
NM_020381.4(PDSS2):c.700A>G (p.Lys234Glu)
|
rs372737420
|
0.00001
|
|
NM_020381.4(PDSS2):c.79C>T (p.Pro27Ser)
|
rs755671694
|
0.00001
|
|
NM_020433.5(JPH2):c.1729G>A (p.Glu577Lys)
|
rs181096982
|
0.00001
|
|
NM_020433.5(JPH2):c.838G>A (p.Glu280Lys)
|
rs748282723
|
0.00001
|
|
NM_020435.4(GJC2):c.1027G>T (p.Ala343Ser)
|
rs1021631118
|
0.00001
|
|
NM_020436.5(SALL4):c.1567G>C (p.Gly523Arg)
|
rs113920122
|
0.00001
|
|
NM_020461.4(TUBGCP6):c.1066G>A (p.Val356Met)
|
rs773504995
|
0.00001
|
|
NM_020461.4(TUBGCP6):c.3383G>A (p.Arg1128Lys)
|
rs567883079
|
0.00001
|
|
NM_020533.3(MCOLN1):c.1458C>A (p.Arg486=)
|
rs1453967813
|
0.00001
|
|
NM_020533.3(MCOLN1):c.1707-7C>T
|
rs371588106
|
0.00001
|
|
NM_020533.3(MCOLN1):c.189C>T (p.Pro63=)
|
rs1182165362
|
0.00001
|
|
NM_020533.3(MCOLN1):c.32-12C>A
|
rs1372906524
|
0.00001
|
|
NM_020533.3(MCOLN1):c.429A>G (p.Ser143=)
|
rs777036069
|
0.00001
|
|
NM_020533.3(MCOLN1):c.558G>A (p.Pro186=)
|
rs773903184
|
0.00001
|
|
NM_020533.3(MCOLN1):c.621C>T (p.Asp207=)
|
rs774271399
|
0.00001
|
|
NM_020533.3(MCOLN1):c.666G>A (p.Thr222=)
|
rs757935075
|
0.00001
|
|
NM_020533.3(MCOLN1):c.777+13G>A
|
rs775042317
|
0.00001
|
|
NM_020533.3(MCOLN1):c.78G>A (p.Ala26=)
|
rs746629838
|
0.00001
|
|
NM_020686.6(ABAT):c.1431G>A (p.Thr477=)
|
rs573157071
|
0.00001
|
|
NM_020686.6(ABAT):c.285T>C (p.Asp95=)
|
rs917180192
|
0.00001
|
|
NM_020686.6(ABAT):c.387C>T (p.Pro129=)
|
rs759203240
|
0.00001
|
|
NM_020686.6(ABAT):c.978C>T (p.Asp326=)
|
rs201727625
|
0.00001
|
|
NM_020699.4(GATAD2B):c.1240C>T (p.Arg414Trp)
|
rs755635372
|
0.00001
|
|
NM_020699.4(GATAD2B):c.1467G>A (p.Thr489=)
|
rs763266883
|
0.00001
|
|
NM_020699.4(GATAD2B):c.1661C>G (p.Ala554Gly)
|
rs749141299
|
0.00001
|
|
NM_020699.4(GATAD2B):c.1753A>G (p.Ile585Val)
|
rs372276373
|
0.00001
|
|
NM_020699.4(GATAD2B):c.28C>T (p.Arg10Cys)
|
rs750326578
|
0.00001
|
|
NM_020699.4(GATAD2B):c.874A>G (p.Met292Val)
|
rs138922965
|
0.00001
|
|
NM_020699.4(GATAD2B):c.900G>A (p.Pro300=)
|
rs376882053
|
0.00001
|
|
NM_020708.5(SLC12A5):c.2658G>A (p.Ala886=)
|
rs546939045
|
0.00001
|
|
NM_020717.5(SHROOM4):c.30C>G (p.Tyr10Ter)
|
rs1428157543
|
0.00001
|
|
NM_020717.5(SHROOM4):c.769C>T (p.Arg257Cys)
|
rs1064796301
|
0.00001
|
|
NM_020745.4(AARS2):c.2353C>G (p.Gln785Glu)
|
rs863223859
|
0.00001
|
|
NM_020754.4(ARHGAP31):c.1430C>T (p.Pro477Leu)
|
rs200233879
|
0.00001
|
|
NM_020778.5(ALPK3):c.1081G>A (p.Val361Met)
|
rs774628152
|
0.00001
|
|
NM_020778.5(ALPK3):c.1286T>C (p.Leu429Pro)
|
rs115200412
|
0.00001
|
|
NM_020778.5(ALPK3):c.2738A>C (p.His913Pro)
|
rs1171103742
|
0.00001
|
|
NM_020778.5(ALPK3):c.3966C>T (p.Ser1322=)
|
rs764601903
|
0.00001
|
|
NM_020778.5(ALPK3):c.4889C>T (p.Ala1630Val)
|
rs748424712
|
0.00001
|
|
NM_020822.3(KCNT1):c.1257C>G (p.Val419=)
|
rs547714141
|
0.00001
|
|
NM_020822.3(KCNT1):c.1963G>A (p.Glu655Lys)
|
rs770039542
|
0.00001
|
|
NM_020822.3(KCNT1):c.2059G>A (p.Gly687Ser)
|
rs1156662870
|
0.00001
|
|
NM_020822.3(KCNT1):c.2062G>A (p.Gly688Ser)
|
rs570983410
|
0.00001
|
|
NM_020822.3(KCNT1):c.2174G>C (p.Cys725Ser)
|
rs756112023
|
0.00001
|
|
NM_020822.3(KCNT1):c.2594+6G>A
|
rs973179248
|
0.00001
|
|
NM_020822.3(KCNT1):c.285C>T (p.Asn95=)
|
rs558966732
|
0.00001
|
|
NM_020822.3(KCNT1):c.299G>A (p.Arg100Gln)
|
rs752032951
|
0.00001
|
|
NM_020822.3(KCNT1):c.3100G>A (p.Ala1034Thr)
|
rs779961735
|
0.00001
|
|
NM_020822.3(KCNT1):c.567G>A (p.Leu189=)
|
rs372998864
|
0.00001
|
|
NM_020919.4(ALS2):c.1640+10A>G
|
rs755148474
|
0.00001
|
|
NM_020919.4(ALS2):c.2171-7G>A
|
rs376270303
|
0.00001
|
|
NM_020928.2(ZSWIM6):c.2372G>A (p.Arg791Lys)
|
rs896435221
|
0.00001
|
|
NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg)
|
rs183784665
|
0.00001
|
|
NM_020937.4(FANCM):c.5717-4T>A
|
rs781258517
|
0.00001
|
|
NM_020975.6(RET):c.1102C>T (p.Arg368Cys)
|
rs754116867
|
0.00001
|
|
NM_020975.6(RET):c.1264-8C>T
|
rs769595884
|
0.00001
|
|
NM_020975.6(RET):c.1890C>T (p.Cys630=)
|
rs781145070
|
0.00001
|
|
NM_020975.6(RET):c.1915G>A (p.Ala639Thr)
|
rs777122776
|
0.00001
|
|
NM_020975.6(RET):c.2166G>T (p.Lys722Asn)
|
rs527726480
|
0.00001
|
|
NM_020975.6(RET):c.2412G>A (p.Val804=)
|
rs767045208
|
0.00001
|
|
NM_020975.6(RET):c.2538C>T (p.Leu846=)
|
rs201816539
|
0.00001
|
|
NM_020975.6(RET):c.2801+9G>A
|
rs780912886
|
0.00001
|
|
NM_020975.6(RET):c.2945G>A (p.Arg982His)
|
rs368550200
|
0.00001
|
|
NM_020975.6(RET):c.322A>C (p.Lys108Gln)
|
rs567877611
|
0.00001
|
|
NM_020975.6(RET):c.667G>A (p.Val223Met)
|
rs587780815
|
0.00001
|
|
NM_020975.6(RET):c.750C>T (p.Arg250=)
|
rs1013952995
|
0.00001
|
|
NM_021072.4(HCN1):c.1980G>A (p.Met660Ile)
|
rs1335934380
|
0.00001
|
|
NM_021098.3(CACNA1H):c.4350+6T>C
|
rs367545564
|
0.00001
|
|
NM_021098.3(CACNA1H):c.5695C>T (p.Pro1899Ser)
|
rs367594144
|
0.00001
|
|
NM_021098.3(CACNA1H):c.6004G>C (p.Gly2002Arg)
|
rs1357838162
|
0.00001
|
|
NM_021098.3(CACNA1H):c.6157G>C (p.Gly2053Arg)
|
rs754154177
|
0.00001
|
|
NM_021098.3(CACNA1H):c.6542C>T (p.Ala2181Val)
|
rs776161185
|
0.00001
|
|
NM_021252.5(RAB18):c.501A>G (p.Glu167=)
|
rs1346169896
|
0.00001
|
|
NM_021625.5(TRPV4):c.1390C>T (p.Arg464Cys)
|
rs373049874
|
0.00001
|
|
NM_021625.5(TRPV4):c.145C>A (p.Pro49Thr)
|
rs546287338
|
0.00001
|
|
NM_021625.5(TRPV4):c.2349G>A (p.Val783=)
|
rs778478432
|
0.00001
|
|
NM_021625.5(TRPV4):c.2439C>T (p.Thr813=)
|
rs545589086
|
0.00001
|
|
NM_021625.5(TRPV4):c.650C>T (p.Ala217Val)
|
rs548909101
|
0.00001
|
|
NM_021728.4(OTX2):c.150G>A (p.Arg50=)
|
rs1246931412
|
0.00001
|
|
NM_021830.5(TWNK):c.737A>G (p.Asn246Ser)
|
rs754081544
|
0.00001
|
|
NM_021922.3(FANCE):c.216G>T (p.Pro72=)
|
rs886061328
|
0.00001
|
|
NM_021922.3(FANCE):c.330G>A (p.Pro110=)
|
rs757051494
|
0.00001
|
|
NM_021939.4(FKBP10):c.1399+8G>T
|
rs782073490
|
0.00001
|
|
NM_021942.6(TRAPPC11):c.2817C>T (p.Thr939=)
|
rs778742385
|
0.00001
|
|
NM_021957.4(GYS2):c.1230-5T>G
|
rs777032042
|
0.00001
|
|
NM_022041.4(GAN):c.1017G>A (p.Gln339=)
|
rs201451382
|
0.00001
|
|
NM_022041.4(GAN):c.471G>A (p.Leu157=)
|
rs143704621
|
0.00001
|
|
NM_022041.4(GAN):c.634-6C>T
|
rs199874705
|
0.00001
|
|
NM_022041.4(GAN):c.801A>G (p.Lys267=)
|
rs746799355
|
0.00001
|
|
NM_022041.4(GAN):c.806G>A (p.Arg269Gln)
|
rs759581558
|
0.00001
|
|
NM_022042.4(SLC26A1):c.*874C>T
|
rs775172497
|
0.00001
|
|
NM_022042.4(SLC26A1):c.*876C>T
|
rs546988577
|
0.00001
|
|
NM_022081.6(HPS4):c.2040C>T (p.Ser680=)
|
rs752931351
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1314C>A (p.Leu438=)
|
rs764435162
|
0.00001
|
|
NM_022089.4(ATP13A2):c.1870G>A (p.Val624Ile)
|
rs368423685
|
0.00001
|
|
NM_022095.4(ZNF335):c.1552G>A (p.Val518Met)
|
rs768453184
|
0.00001
|
|
NM_022114.4(PRDM16):c.1807G>A (p.Asp603Asn)
|
rs199984813
|
0.00001
|
|
NM_022114.4(PRDM16):c.2067C>T (p.Ala689=)
|
rs371813954
|
0.00001
|
|
NM_022114.4(PRDM16):c.2169G>A (p.Ser723=)
|
rs775363690
|
0.00001
|
|
NM_022124.6(CDH23):c.10033A>C (p.Met3345Leu)
|
rs368597074
|
0.00001
|
|
NM_022124.6(CDH23):c.1090G>A (p.Gly364Ser)
|
rs767750411
|
0.00001
|
|
NM_022124.6(CDH23):c.1135-10C>G
|
rs749236786
|
0.00001
|
|
NM_022124.6(CDH23):c.2310C>T (p.Asp770=)
|
rs886047131
|
0.00001
|
|
NM_022124.6(CDH23):c.3151G>A (p.Val1051Ile)
|
rs876657439
|
0.00001
|
|
NM_022124.6(CDH23):c.4179C>T (p.Asp1393=)
|
rs571668370
|
0.00001
|
|
NM_022124.6(CDH23):c.4207-8G>T
|
rs748187466
|
0.00001
|
|
NM_022124.6(CDH23):c.4782C>T (p.Arg1594=)
|
rs756336099
|
0.00001
|
|
NM_022124.6(CDH23):c.6196C>T (p.Arg2066Trp)
|
rs111033489
|
0.00001
|
|
NM_022124.6(CDH23):c.6465G>A (p.Ser2155=)
|
rs373462599
|
0.00001
|
|
NM_022124.6(CDH23):c.6664C>T (p.Arg2222Cys)
|
rs761082272
|
0.00001
|
|
NM_022124.6(CDH23):c.7055-15G>A
|
rs371872394
|
0.00001
|
|
NM_022124.6(CDH23):c.8065-8G>A
|
rs376332131
|
0.00001
|
|
NM_022124.6(CDH23):c.8065-9C>T
|
rs397517355
|
0.00001
|
|
NM_022124.6(CDH23):c.9108G>A (p.Glu3036=)
|
rs768198017
|
0.00001
|
|
NM_022124.6(CDH23):c.960C>T (p.Asn320=)
|
rs756644736
|
0.00001
|
|
NM_022124.6(CDH23):c.9738+6C>T
|
rs727504562
|
0.00001
|
|
NM_022124.6(CDH23):c.9759C>T (p.Asp3253=)
|
rs540567272
|
0.00001
|
|
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp)
|
rs562590210
|
0.00001
|
|
NM_022132.5(MCCC2):c.330C>T (p.Asp110=)
|
rs201872484
|
0.00001
|
|
NM_022168.4(IFIH1):c.1710G>A (p.Met570Ile)
|
rs776280813
|
0.00001
|
|
NM_022168.4(IFIH1):c.2733T>C (p.Ser911=)
|
rs767453829
|
0.00001
|
|
NM_022367.4(SEMA4A):c.1431C>G (p.Thr477=)
|
rs755693576
|
0.00001
|
|
NM_022367.4(SEMA4A):c.2106C>T (p.Leu702=)
|
rs772147085
|
0.00001
|
|
NM_022436.3(ABCG5):c.1446C>T (p.Phe482=)
|
rs886044572
|
0.00001
|
|
NM_022436.3(ABCG5):c.780T>C (p.Phe260=)
|
rs765847597
|
0.00001
|
|
NM_022436.3(ABCG5):c.828G>A (p.Thr276=)
|
rs539178581
|
0.00001
|
|
NM_022437.3(ABCG8):c.1059G>C (p.Val353=)
|
rs751866338
|
0.00001
|
|
NM_022437.3(ABCG8):c.1117T>C (p.Cys373Arg)
|
rs554680915
|
0.00001
|
|
NM_022437.3(ABCG8):c.1211+7A>T
|
rs568899040
|
0.00001
|
|
NM_022437.3(ABCG8):c.1212-10G>C
|
rs765938367
|
0.00001
|
|
NM_022437.3(ABCG8):c.1533C>T (p.Tyr511=)
|
rs763640657
|
0.00001
|
|
NM_022437.3(ABCG8):c.1789C>A (p.Arg597=)
|
rs776778929
|
0.00001
|
|
NM_022437.3(ABCG8):c.1923C>T (p.Tyr641=)
|
rs369023184
|
0.00001
|
|
NM_022437.3(ABCG8):c.579G>A (p.Ala193=)
|
rs747555833
|
0.00001
|
|
NM_022455.5(NSD1):c.3056G>A (p.Arg1019His)
|
rs750354456
|
0.00001
|
|
NM_022455.5(NSD1):c.34T>C (p.Cys12Arg)
|
rs143406017
|
0.00001
|
|
NM_022455.5(NSD1):c.4966+15T>C
|
rs587784130
|
0.00001
|
|
NM_022464.5(SIL1):c.741G>A (p.Ala247=)
|
rs773520401
|
0.00001
|
|
NM_022489.4(INF2):c.1067C>T (p.Ala356Val)
|
rs375622503
|
0.00001
|
|
NM_022489.4(INF2):c.1097A>G (p.Gln366Arg)
|
rs747903915
|
0.00001
|
|
NM_022489.4(INF2):c.1189G>A (p.Val397Met)
|
rs771775245
|
0.00001
|
|
NM_022489.4(INF2):c.1792G>A (p.Asp598Asn)
|
rs368948089
|
0.00001
|
|
NM_022489.4(INF2):c.1994C>T (p.Thr665Ile)
|
rs1279137766
|
0.00001
|
|
NM_022489.4(INF2):c.2390G>A (p.Arg797His)
|
rs200261709
|
0.00001
|
|
NM_022489.4(INF2):c.2578G>A (p.Glu860Lys)
|
rs376094545
|
0.00001
|
|
NM_022489.4(INF2):c.2776-5T>C
|
rs1442200771
|
0.00001
|
|
NM_022489.4(INF2):c.3041-4C>T
|
rs945997134
|
0.00001
|
|
NM_022489.4(INF2):c.3061G>A (p.Gly1021Arg)
|
rs762689516
|
0.00001
|
|
NM_022489.4(INF2):c.3126C>T (p.Ser1042=)
|
rs1035033414
|
0.00001
|
|
NM_022489.4(INF2):c.3224G>A (p.Arg1075His)
|
rs370169829
|
0.00001
|
|
NM_022489.4(INF2):c.3373G>A (p.Gly1125Arg)
|
rs775116734
|
0.00001
|
|
NM_022489.4(INF2):c.3535A>G (p.Thr1179Ala)
|
rs778879482
|
0.00001
|
|
NM_022489.4(INF2):c.3637C>T (p.Arg1213Trp)
|
rs200823300
|
0.00001
|
|
NM_022489.4(INF2):c.409G>A (p.Val137Met)
|
rs200713451
|
0.00001
|
|
NM_022489.4(INF2):c.733C>G (p.Leu245Val)
|
rs765986755
|
0.00001
|
|
NM_022489.4(INF2):c.787T>G (p.Ser263Ala)
|
rs1364540701
|
0.00001
|
|
NM_022489.4(INF2):c.799G>A (p.Asp267Asn)
|
rs772599038
|
0.00001
|
|
NM_022552.5(DNMT3A):c.187G>A (p.Gly63Ser)
|
rs781108426
|
0.00001
|
|
NM_022726.4(ELOVL4):c.192A>C (p.Pro64=)
|
rs201014417
|
0.00001
|
|
NM_023110.3(FGFR1):c.615C>T (p.Gly205=)
|
rs781689191
|
0.00001
|
|
NM_024079.5(ALG8):c.1460A>G (p.Tyr487Cys)
|
rs777557874
|
0.00001
|
|
NM_024105.4(ALG12):c.117G>A (p.Leu39=)
|
rs371814322
|
0.00001
|
|
NM_024105.4(ALG12):c.933C>T (p.Arg311=)
|
rs779215527
|
0.00001
|
|
NM_024120.5(NDUFAF5):c.222+7C>T
|
rs777576855
|
0.00001
|
|
NM_024301.5(FKRP):c.-2C>A
|
rs781231882
|
0.00001
|
|
NM_024301.5(FKRP):c.582G>A (p.Leu194=)
|
rs771223960
|
0.00001
|
|
NM_024301.5(FKRP):c.699G>A (p.Val233=)
|
rs764527541
|
0.00001
|
|
NM_024301.5(FKRP):c.703C>T (p.Leu235=)
|
rs1428469954
|
0.00001
|
|
NM_024312.5(GNPTAB):c.1422G>A (p.Gly474=)
|
rs775742250
|
0.00001
|
|
NM_024312.5(GNPTAB):c.2119G>A (p.Ala707Thr)
|
rs376620571
|
0.00001
|
|
NM_024334.3(TMEM43):c.1120_1121del (p.Leu374fs)
|
rs746672224
|
0.00001
|
|
NM_024334.3(TMEM43):c.164G>A (p.Gly55Asp)
|
rs201453637
|
0.00001
|
|
NM_024334.3(TMEM43):c.893A>G (p.His298Arg)
|
rs1285837389
|
0.00001
|
|
NM_024334.3(TMEM43):c.983G>A (p.Arg328Gln)
|
rs185611706
|
0.00001
|
|
NM_024334.3(TMEM43):c.99G>A (p.Ser33=)
|
rs147710692
|
0.00001
|
|
NM_024407.5(NDUFS7):c.47G>A (p.Gly16Asp)
|
rs552179138
|
0.00001
|
|
NM_024407.5(NDUFS7):c.54-5G>A
|
rs775718887
|
0.00001
|
|
NM_024408.4(NOTCH2):c.1791C>T (p.Pro597=)
|
rs781999109
|
0.00001
|
|
NM_024408.4(NOTCH2):c.3252G>A (p.Glu1084=)
|
rs372751663
|
0.00001
|
|
NM_024408.4(NOTCH2):c.4992G>A (p.Val1664=)
|
rs587748556
|
0.00001
|
|
NM_024408.4(NOTCH2):c.7199G>A (p.Arg2400Gln)
|
rs587654671
|
0.00001
|
|
NM_024408.4(NOTCH2):c.822T>G (p.Val274=)
|
rs782642000
|
0.00001
|
|
NM_024422.6(DSC2):c.1081G>A (p.Val361Met)
|
rs751810874
|
0.00001
|
|
NM_024422.6(DSC2):c.2126-11T>C
|
rs1283105269
|
0.00001
|
|
NM_024422.6(DSC2):c.2430G>A (p.Arg810=)
|
rs755276378
|
0.00001
|
|
NM_024422.6(DSC2):c.2441C>T (p.Thr814Met)
|
rs756497616
|
0.00001
|
|
NM_024422.6(DSC2):c.267G>A (p.Ser89=)
|
rs201363937
|
0.00001
|
|
NM_024422.6(DSC2):c.327A>G (p.Ile109Met)
|
rs373305929
|
0.00001
|
|
NM_024422.6(DSC2):c.474+5C>T
|
rs397517400
|
0.00001
|
|
NM_024422.6(DSC2):c.777C>T (p.Gly259=)
|
rs565694087
|
0.00001
|
|
NM_024529.5(CDC73):c.1011C>T (p.Ala337=)
|
rs372567546
|
0.00001
|
|
NM_024529.5(CDC73):c.1453C>G (p.Leu485Val)
|
rs761968225
|
0.00001
|
|
NM_024570.4(RNASEH2B):c.897C>A (p.Thr299=)
|
rs886050291
|
0.00001
|
|
NM_024589.3(ROGDI):c.507C>T (p.Pro169=)
|
rs767771299
|
0.00001
|
|
NM_024589.3(ROGDI):c.753C>T (p.Ile251=)
|
rs144581570
|
0.00001
|
|
NM_024589.3(ROGDI):c.795G>A (p.Leu265=)
|
rs749782882
|
0.00001
|
|
NM_024596.5(MCPH1):c.1494C>T (p.Cys498=)
|
rs199951156
|
0.00001
|
|
NM_024596.5(MCPH1):c.954T>C (p.Ala318=)
|
rs770723949
|
0.00001
|
|
NM_024642.5(GALNT12):c.1213-10G>T
|
rs768905490
|
0.00001
|
|
NM_024642.5(GALNT12):c.1581G>A (p.Glu527=)
|
rs1423291369
|
0.00001
|
|
NM_024642.5(GALNT12):c.731+4C>T
|
rs756809019
|
0.00001
|
|
NM_024649.5(BBS1):c.1626A>G (p.Pro542=)
|
rs780444865
|
0.00001
|
|
NM_024649.5(BBS1):c.1743C>T (p.His581=)
|
rs61890368
|
0.00001
|
|
NM_024675.4(PALB2):c.-5G>T
|
rs730881875
|
0.00001
|
|
NM_024675.4(PALB2):c.1079A>G (p.Asp360Gly)
|
rs876659751
|
0.00001
|
|
NM_024675.4(PALB2):c.109-5T>C
|
rs749299119
|
0.00001
|
|
NM_024675.4(PALB2):c.1110G>A (p.Gln370=)
|
rs756002989
|
0.00001
|
|
NM_024675.4(PALB2):c.1123C>A (p.Leu375Ile)
|
rs373298267
|
0.00001
|
|
NM_024675.4(PALB2):c.1145G>T (p.Ser382Ile)
|
rs515726063
|
0.00001
|
|
NM_024675.4(PALB2):c.1192G>A (p.Val398Met)
|
rs769097541
|
0.00001
|
|
NM_024675.4(PALB2):c.127A>G (p.Lys43Glu)
|
rs765125459
|
0.00001
|
|
NM_024675.4(PALB2):c.1343G>A (p.Ser448Asn)
|
rs956172059
|
0.00001
|
|
NM_024675.4(PALB2):c.1364A>G (p.Asn455Ser)
|
rs587781824
|
0.00001
|
|
NM_024675.4(PALB2):c.1400G>A (p.Gly467Asp)
|
rs730881906
|
0.00001
|
|
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg)
|
rs756778249
|
0.00001
|
|
NM_024675.4(PALB2):c.1597A>G (p.Thr533Ala)
|
rs1393117824
|
0.00001
|
|
NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu)
|
rs142103232
|
0.00001
|
|
NM_024675.4(PALB2):c.161A>G (p.Glu54Gly)
|
rs730881898
|
0.00001
|
|
NM_024675.4(PALB2):c.1660G>A (p.Glu554Lys)
|
rs377486858
|
0.00001
|
|
NM_024675.4(PALB2):c.1662A>G (p.Glu554=)
|
rs786202692
|
0.00001
|
|
NM_024675.4(PALB2):c.1685-14T>A
|
rs780772404
|
0.00001
|
|
NM_024675.4(PALB2):c.1685-3T>C
|
rs1254059410
|
0.00001
|
|
NM_024675.4(PALB2):c.1697G>A (p.Arg566His)
|
rs144617793
|
0.00001
|
|
NM_024675.4(PALB2):c.1941T>C (p.His647=)
|
rs745467835
|
0.00001
|
|
NM_024675.4(PALB2):c.1958G>A (p.Cys653Tyr)
|
rs771246748
|
0.00001
|
|
NM_024675.4(PALB2):c.1987C>T (p.Arg663Cys)
|
rs62625277
|
0.00001
|
|
NM_024675.4(PALB2):c.2020G>A (p.Asp674Asn)
|
rs730881885
|
0.00001
|
|
NM_024675.4(PALB2):c.2087C>T (p.Thr696Met)
|
rs587780820
|
0.00001
|
|
NM_024675.4(PALB2):c.2134G>C (p.Ala712Pro)
|
rs765942523
|
0.00001
|
|
NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln)
|
rs587778586
|
0.00001
|
|
NM_024675.4(PALB2):c.2277A>G (p.Gln759=)
|
rs786202524
|
0.00001
|
|
NM_024675.4(PALB2):c.2329G>A (p.Asp777Asn)
|
rs148026749
|
0.00001
|
|
NM_024675.4(PALB2):c.2438T>C (p.Ile813Thr)
|
rs763191051
|
0.00001
|
|
NM_024675.4(PALB2):c.2453T>C (p.Phe818Ser)
|
rs370908330
|
0.00001
|
|
NM_024675.4(PALB2):c.2456A>G (p.Lys819Arg)
|
rs587778585
|
0.00001
|
|
NM_024675.4(PALB2):c.2505C>T (p.Ser835=)
|
rs756502783
|
0.00001
|
|
NM_024675.4(PALB2):c.2514+3dup
|
rs587781602
|
0.00001
|
|
NM_024675.4(PALB2):c.2515-11T>C
|
rs780521904
|
0.00001
|
|
NM_024675.4(PALB2):c.2522C>T (p.Thr841Ile)
|
rs1373085553
|
0.00001
|
|
NM_024675.4(PALB2):c.2619T>G (p.Ser873Arg)
|
rs587782387
|
0.00001
|
|
NM_024675.4(PALB2):c.2677G>T (p.Asp893Tyr)
|
rs765077104
|
0.00001
|
|
NM_024675.4(PALB2):c.2725C>G (p.Leu909Val)
|
rs1060502739
|
0.00001
|
|
NM_024675.4(PALB2):c.2753C>A (p.Pro918Gln)
|
rs587780822
|
0.00001
|
|
NM_024675.4(PALB2):c.2784G>A (p.Val928=)
|
rs763411245
|
0.00001
|
|
NM_024675.4(PALB2):c.2792T>G (p.Leu931Arg)
|
rs773831304
|
0.00001
|
|
NM_024675.4(PALB2):c.2821A>G (p.Ile941Val)
|
rs778602038
|
0.00001
|
|
NM_024675.4(PALB2):c.2834+5G>A
|
rs570455216
|
0.00001
|
|
NM_024675.4(PALB2):c.2922G>T (p.Lys974Asn)
|
rs730881892
|
0.00001
|
|
NM_024675.4(PALB2):c.292A>G (p.Ile98Val)
|
rs587782831
|
0.00001
|
|
NM_024675.4(PALB2):c.3044C>T (p.Thr1015Ile)
|
rs367840862
|
0.00001
|
|
NM_024675.4(PALB2):c.3061G>A (p.Gly1021Arg)
|
rs143808171
|
0.00001
|
|
NM_024675.4(PALB2):c.3103A>G (p.Ile1035Val)
|
rs863224783
|
0.00001
|
|
NM_024675.4(PALB2):c.3113+17G>T
|
rs1451806881
|
0.00001
|
|
NM_024675.4(PALB2):c.3114-5C>T
|
rs753307725
|
0.00001
|
|
NM_024675.4(PALB2):c.315G>C (p.Glu105Asp)
|
rs515726108
|
0.00001
|
|
NM_024675.4(PALB2):c.3225T>A (p.Ser1075Arg)
|
rs202222149
|
0.00001
|
|
NM_024675.4(PALB2):c.3391A>G (p.Ile1131Val)
|
rs774517454
|
0.00001
|
|
NM_024675.4(PALB2):c.353T>C (p.Ile118Thr)
|
rs370404126
|
0.00001
|
|
NM_024675.4(PALB2):c.438A>C (p.Arg146Ser)
|
rs587781498
|
0.00001
|
|
NM_024675.4(PALB2):c.587G>A (p.Arg196Lys)
|
rs730881904
|
0.00001
|
|
NM_024675.4(PALB2):c.661G>A (p.Val221Ile)
|
rs1060502773
|
0.00001
|
|
NM_024675.4(PALB2):c.718C>A (p.Pro240Thr)
|
rs757567654
|
0.00001
|
|
NM_024675.4(PALB2):c.769G>A (p.Gly257Ser)
|
rs587780824
|
0.00001
|
|
NM_024675.4(PALB2):c.833T>A (p.Leu278Gln)
|
rs200843485
|
0.00001
|
|
NM_024675.4(PALB2):c.856C>T (p.Pro286Ser)
|
rs45585833
|
0.00001
|
|
NM_024675.4(PALB2):c.892G>A (p.Val298Ile)
|
rs1060502765
|
0.00001
|
|
NM_024675.4(PALB2):c.899C>T (p.Thr300Ile)
|
rs528541334
|
0.00001
|
|
NM_024675.4(PALB2):c.928A>G (p.Ser310Gly)
|
rs45561331
|
0.00001
|
|
NM_024685.4(BBS10):c.483A>G (p.Lys161=)
|
rs748732850
|
0.00001
|
|
NM_024740.2(ALG9):c.1251G>A (p.Ser417=)
|
rs782372397
|
0.00001
|
|
NM_024753.5(TTC21B):c.338A>G (p.His113Arg)
|
rs146865517
|
0.00001
|
|
NM_024757.5(EHMT1):c.1181A>C (p.Glu394Ala)
|
rs773281152
|
0.00001
|
|
NM_024757.5(EHMT1):c.1814C>T (p.Pro605Leu)
|
rs373640528
|
0.00001
|
|
NM_024757.5(EHMT1):c.2755G>A (p.Val919Met)
|
rs749976725
|
0.00001
|
|
NM_024757.5(EHMT1):c.376A>G (p.Ile126Val)
|
rs773781896
|
0.00001
|
|
NM_024757.5(EHMT1):c.510G>T (p.Gln170His)
|
rs1308431693
|
0.00001
|
|
NM_024757.5(EHMT1):c.575C>T (p.Pro192Leu)
|
rs35285441
|
0.00001
|
|
NM_025074.7(FRAS1):c.4098C>T (p.Ile1366=)
|
rs1027609786
|
0.00001
|
|
NM_025074.7(FRAS1):c.6876T>C (p.Asp2292=)
|
rs779794904
|
0.00001
|
|
NM_025074.7(FRAS1):c.8131T>C (p.Tyr2711His)
|
rs541053205
|
0.00001
|
|
NM_025077.4(TOE1):c.-38G>C
|
rs774530388
|
0.00001
|
|
NM_025099.6(CTC1):c.1078-13G>A
|
rs200325111
|
0.00001
|
|
NM_025099.6(CTC1):c.1092C>T (p.Gly364=)
|
rs761668228
|
0.00001
|
|
NM_025099.6(CTC1):c.1500C>T (p.Pro500=)
|
rs761750183
|
0.00001
|
|
NM_025099.6(CTC1):c.1548G>A (p.Pro516=)
|
rs781000475
|
0.00001
|
|
NM_025099.6(CTC1):c.2386-10A>G
|
rs746382653
|
0.00001
|
|
NM_025099.6(CTC1):c.2439G>A (p.Pro813=)
|
rs200759730
|
0.00001
|
|
NM_025099.6(CTC1):c.3190A>G (p.Thr1064Ala)
|
rs777357385
|
0.00001
|
|
NM_025114.4(CEP290):c.2183A>G (p.Asn728Ser)
|
rs752513342
|
0.00001
|
|
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)
|
rs764963626
|
0.00001
|
|
NM_025114.4(CEP290):c.6132T>G (p.Pro2044=)
|
rs765002773
|
0.00001
|
|
NM_025136.4(OPA3):c.123C>G (p.Ile41Met)
|
rs763083098
|
0.00001
|
|
NM_025137.4(SPG11):c.1763A>G (p.Asp588Gly)
|
rs763060505
|
0.00001
|
|
NM_025137.4(SPG11):c.3453+5A>G
|
rs983973496
|
0.00001
|
|
NM_025137.4(SPG11):c.39C>T (p.Ala13=)
|
rs759646328
|
0.00001
|
|
NM_025137.4(SPG11):c.5595A>G (p.Thr1865=)
|
rs375403626
|
0.00001
|
|
NM_025137.4(SPG11):c.5598C>T (p.Cys1866=)
|
rs570599267
|
0.00001
|
|
NM_025137.4(SPG11):c.581C>T (p.Pro194Leu)
|
rs573482671
|
0.00001
|
|
NM_025137.4(SPG11):c.6726A>G (p.Gln2242=)
|
rs376245210
|
0.00001
|
|
NM_025137.4(SPG11):c.7258T>A (p.Phe2420Ile)
|
rs779900397
|
0.00001
|
|
NM_025152.3(NUBPL):c.71C>T (p.Pro24Leu)
|
rs556060060
|
0.00001
|
|
NM_025215.6(PUS1):c.894C>T (p.Val298=)
|
rs201908893
|
0.00001
|
|
NM_025243.4(SLC19A3):c.861C>T (p.Phe287=)
|
rs764867524
|
0.00001
|
|
NM_030662.4(MAP2K2):c.529-5T>C
|
rs766943752
|
0.00001
|
|
NM_030662.4(MAP2K2):c.814G>A (p.Ala272Thr)
|
rs757240576
|
0.00001
|
|
NM_030665.4(RAI1):c.1110T>G (p.Phe370Leu)
|
rs754037858
|
0.00001
|
|
NM_030665.4(RAI1):c.1202C>T (p.Thr401Met)
|
rs200825036
|
0.00001
|
|
NM_030665.4(RAI1):c.12T>C (p.Phe4=)
|
rs755209169
|
0.00001
|
|
NM_030665.4(RAI1):c.1487C>T (p.Pro496Leu)
|
rs200903510
|
0.00001
|
|
NM_030665.4(RAI1):c.1758G>C (p.Lys586Asn)
|
rs756134541
|
0.00001
|
|
NM_030665.4(RAI1):c.1850C>A (p.Ala617Asp)
|
rs549244691
|
0.00001
|
|
NM_030665.4(RAI1):c.1937A>C (p.His646Pro)
|
rs757197196
|
0.00001
|
|
NM_030665.4(RAI1):c.3720C>T (p.Val1240=)
|
rs778274557
|
0.00001
|
|
NM_030665.4(RAI1):c.469T>C (p.Tyr157His)
|
rs1289033749
|
0.00001
|
|
NM_030665.4(RAI1):c.5170C>T (p.Arg1724Trp)
|
rs373198856
|
0.00001
|
|
NM_030665.4(RAI1):c.530C>T (p.Pro177Leu)
|
rs753632651
|
0.00001
|
|
NM_030665.4(RAI1):c.5659+4C>T
|
rs771668748
|
0.00001
|
|
NM_030777.4(SLC2A10):c.1032C>T (p.Asp344=)
|
rs1301992983
|
0.00001
|
|
NM_030777.4(SLC2A10):c.1305C>T (p.Leu435=)
|
rs201159437
|
0.00001
|
|
NM_030777.4(SLC2A10):c.432C>T (p.Thr144=)
|
rs371344477
|
0.00001
|
|
NM_030777.4(SLC2A10):c.810G>C (p.Val270=)
|
rs774452914
|
0.00001
|
|
NM_031220.4(PITPNM3):c.1139C>T (p.Pro380Leu)
|
rs536434931
|
0.00001
|
|
NM_031407.7(HUWE1):c.10145G>C (p.Ser3382Thr)
|
rs782307186
|
0.00001
|
|
NM_031407.7(HUWE1):c.1142A>C (p.Gln381Pro)
|
rs1012962799
|
0.00001
|
|
NM_031844.3(HNRNPU):c.2031T>C (p.Leu677=)
|
rs1680670991
|
0.00001
|
|
NM_031844.3(HNRNPU):c.2248G>A (p.Gly750Ser)
|
rs1360721056
|
0.00001
|
|
NM_031844.3(HNRNPU):c.715G>A (p.Gly239Ser)
|
rs1014292464
|
0.00001
|
|
NM_031885.5(BBS2):c.327G>A (p.Ser109=)
|
rs770497817
|
0.00001
|
|
NM_031885.5(BBS2):c.534+7G>C
|
rs886052149
|
0.00001
|
|
NM_031935.3(HMCN1):c.9182A>G (p.His3061Arg)
|
rs748058327
|
0.00001
|
|
NM_032043.3(BRIP1):c.-6A>C
|
rs1442433909
|
0.00001
|
|
NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe)
|
rs755796609
|
0.00001
|
|
NM_032043.3(BRIP1):c.1077A>G (p.Ile359Met)
|
rs730881634
|
0.00001
|
|
NM_032043.3(BRIP1):c.10A>G (p.Met4Val)
|
rs45512093
|
0.00001
|
|
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp)
|
rs200062099
|
0.00001
|
|
NM_032043.3(BRIP1):c.1473+6A>G
|
rs587780827
|
0.00001
|
|
NM_032043.3(BRIP1):c.1474-3T>C
|
rs552752779
|
0.00001
|
|
NM_032043.3(BRIP1):c.1650T>G (p.Ile550Met)
|
rs587782254
|
0.00001
|
|
NM_032043.3(BRIP1):c.205+3A>G
|
rs539329589
|
0.00001
|
|
NM_032043.3(BRIP1):c.226G>A (p.Val76Ile)
|
rs769573395
|
0.00001
|
|
NM_032043.3(BRIP1):c.2441G>A (p.Arg814His)
|
rs45468199
|
0.00001
|
|
NM_032043.3(BRIP1):c.2493-11A>G
|
rs890923836
|
0.00001
|
|
NM_032043.3(BRIP1):c.2686A>G (p.Ile896Val)
|
rs764406913
|
0.00001
|
|
NM_032043.3(BRIP1):c.2689A>G (p.Lys897Glu)
|
rs587781644
|
0.00001
|
|
NM_032043.3(BRIP1):c.2801T>C (p.Phe934Ser)
|
rs778916092
|
0.00001
|
|
NM_032043.3(BRIP1):c.2902A>G (p.Lys968Glu)
|
rs587782679
|
0.00001
|
|
NM_032043.3(BRIP1):c.3070G>A (p.Gly1024Arg)
|
rs147119272
|
0.00001
|
|
NM_032043.3(BRIP1):c.3149C>A (p.Thr1050Asn)
|
rs373040333
|
0.00001
|
|
NM_032043.3(BRIP1):c.326A>G (p.Asn109Ser)
|
rs587782734
|
0.00001
|
|
NM_032043.3(BRIP1):c.3275C>T (p.Pro1092Leu)
|
rs587780830
|
0.00001
|
|
NM_032043.3(BRIP1):c.56A>G (p.Tyr19Cys)
|
rs876660880
|
0.00001
|
|
NM_032043.3(BRIP1):c.612C>G (p.Ser204=)
|
rs587780832
|
0.00001
|
|
NM_032043.3(BRIP1):c.679C>G (p.Gln227Glu)
|
rs45459799
|
0.00001
|
|
NM_032119.4(ADGRV1):c.-26_-9del
|
rs773996398
|
0.00001
|
|
NM_032119.4(ADGRV1):c.10066A>G (p.Ile3356Val)
|
rs727503078
|
0.00001
|
|
NM_032119.4(ADGRV1):c.11390C>T (p.Thr3797Ile)
|
rs375025827
|
0.00001
|
|
NM_032119.4(ADGRV1):c.1140A>G (p.Gln380=)
|
rs373902384
|
0.00001
|
|
NM_032119.4(ADGRV1):c.11947G>A (p.Ala3983Thr)
|
rs774167945
|
0.00001
|
|
NM_032119.4(ADGRV1):c.12176C>T (p.Thr4059Met)
|
rs376833921
|
0.00001
|
|
NM_032119.4(ADGRV1):c.12424C>T (p.Arg4142Trp)
|
rs534226753
|
0.00001
|
|
NM_032119.4(ADGRV1):c.1254A>G (p.Thr418=)
|
rs1315101894
|
0.00001
|
|
NM_032119.4(ADGRV1):c.12613T>G (p.Ser4205Ala)
|
rs746448681
|
0.00001
|
|
NM_032119.4(ADGRV1):c.13495C>T (p.Arg4499Cys)
|
rs567519802
|
0.00001
|
|
NM_032119.4(ADGRV1):c.137C>T (p.Thr46Ile)
|
rs754162988
|
0.00001
|
|
NM_032119.4(ADGRV1):c.14185G>A (p.Asp4729Asn)
|
rs778820230
|
0.00001
|
|
NM_032119.4(ADGRV1):c.14353A>G (p.Ile4785Val)
|
rs773654115
|
0.00001
|
|
NM_032119.4(ADGRV1):c.14521T>C (p.Phe4841Leu)
|
rs763840800
|
0.00001
|
|
NM_032119.4(ADGRV1):c.15959A>T (p.Asp5320Val)
|
rs398124425
|
0.00001
|
|
NM_032119.4(ADGRV1):c.16745C>T (p.Thr5582Met)
|
rs771468922
|
0.00001
|
|
NM_032119.4(ADGRV1):c.17276A>G (p.Asn5759Ser)
|
rs375445058
|
0.00001
|
|
NM_032119.4(ADGRV1):c.17349A>G (p.Ala5783=)
|
rs747992951
|
0.00001
|
|
NM_032119.4(ADGRV1):c.17512G>A (p.Val5838Ile)
|
rs727504913
|
0.00001
|
|
NM_032119.4(ADGRV1):c.17794A>C (p.Arg5932=)
|
rs747728554
|
0.00001
|
|
NM_032119.4(ADGRV1):c.17857-11G>A
|
rs918520562
|
0.00001
|
|
NM_032119.4(ADGRV1):c.17973+7A>G
|
rs751094041
|
0.00001
|
|
NM_032119.4(ADGRV1):c.1799A>G (p.Asn600Ser)
|
rs876657823
|
0.00001
|
|
NM_032119.4(ADGRV1):c.18125A>G (p.Gln6042Arg)
|
rs764963960
|
0.00001
|
|
NM_032119.4(ADGRV1):c.18214C>T (p.Leu6072Phe)
|
rs769391232
|
0.00001
|
|
NM_032119.4(ADGRV1):c.2021A>G (p.Tyr674Cys)
|
rs761220696
|
0.00001
|
|
NM_032119.4(ADGRV1):c.222C>T (p.Asp74=)
|
rs181146384
|
0.00001
|
|
NM_032119.4(ADGRV1):c.2285G>A (p.Arg762His)
|
rs757860505
|
0.00001
|
|
NM_032119.4(ADGRV1):c.2735-8T>C
|
rs1181016921
|
0.00001
|
|
NM_032119.4(ADGRV1):c.2759G>A (p.Arg920Gln)
|
rs766225545
|
0.00001
|
|
NM_032119.4(ADGRV1):c.2800C>G (p.Pro934Ala)
|
rs149600158
|
0.00001
|
|
NM_032119.4(ADGRV1):c.2820A>G (p.Val940=)
|
rs369910075
|
0.00001
|
|
NM_032119.4(ADGRV1):c.328G>A (p.Glu110Lys)
|
rs876657822
|
0.00001
|
|
NM_032119.4(ADGRV1):c.3563T>C (p.Ile1188Thr)
|
rs368562997
|
0.00001
|
|
NM_032119.4(ADGRV1):c.3943C>A (p.Gln1315Lys)
|
rs764685377
|
0.00001
|
|
NM_032119.4(ADGRV1):c.4168A>G (p.Asn1390Asp)
|
rs794727329
|
0.00001
|
|
NM_032119.4(ADGRV1):c.4373C>G (p.Thr1458Ser)
|
rs562424836
|
0.00001
|
|
NM_032119.4(ADGRV1):c.4463G>A (p.Arg1488Gln)
|
rs748876967
|
0.00001
|
|
NM_032119.4(ADGRV1):c.4771A>G (p.Thr1591Ala)
|
rs775471701
|
0.00001
|
|
NM_032119.4(ADGRV1):c.5379T>C (p.Thr1793=)
|
rs772972763
|
0.00001
|
|
NM_032119.4(ADGRV1):c.5560A>G (p.Ile1854Val)
|
rs758419783
|
0.00001
|
|
NM_032119.4(ADGRV1):c.5857A>G (p.Ser1953Gly)
|
rs1425873975
|
0.00001
|
|
NM_032119.4(ADGRV1):c.6275-9G>T
|
rs1206365367
|
0.00001
|
|
NM_032119.4(ADGRV1):c.6332T>C (p.Ile2111Thr)
|
rs776199730
|
0.00001
|
|
NM_032119.4(ADGRV1):c.6728T>C (p.Ile2243Thr)
|
rs1050561499
|
0.00001
|
|
NM_032119.4(ADGRV1):c.690A>C (p.Glu230Asp)
|
rs397517434
|
0.00001
|
|
NM_032119.4(ADGRV1):c.7007G>A (p.Arg2336Gln)
|
rs755180090
|
0.00001
|
|
NM_032119.4(ADGRV1):c.754A>G (p.Ile252Val)
|
rs1299020576
|
0.00001
|
|
NM_032119.4(ADGRV1):c.7664A>G (p.Lys2555Arg)
|
rs1284659275
|
0.00001
|
|
NM_032119.4(ADGRV1):c.7735G>A (p.Val2579Met)
|
rs755818826
|
0.00001
|
|
NM_032119.4(ADGRV1):c.7748A>G (p.Tyr2583Cys)
|
rs778879752
|
0.00001
|
|
NM_032119.4(ADGRV1):c.8292G>A (p.Ser2764=)
|
rs778011573
|
0.00001
|
|
NM_032119.4(ADGRV1):c.8791A>G (p.Met2931Val)
|
rs1250073917
|
0.00001
|
|
NM_032119.4(ADGRV1):c.8938T>C (p.Leu2980=)
|
rs397517442
|
0.00001
|
|
NM_032119.4(ADGRV1):c.9181A>G (p.Ile3061Val)
|
rs759038879
|
0.00001
|
|
NM_032119.4(ADGRV1):c.929G>A (p.Gly310Glu)
|
rs766790920
|
0.00001
|
|
NM_032119.4(ADGRV1):c.940G>A (p.Ala314Thr)
|
rs533540279
|
0.00001
|
|
NM_032193.4(RNASEH2C):c.173-14G>A
|
rs886048502
|
0.00001
|
|
NM_032229.3(SLITRK6):c.1754C>T (p.Thr585Ile)
|
rs1229145139
|
0.00001
|
|
NM_032273.4(TMEM126A):c.385C>G (p.Leu129Val)
|
rs546358774
|
0.00001
|
|
NM_032383.5(HPS3):c.789A>G (p.Glu263=)
|
rs927155737
|
0.00001
|
|
NM_032409.3(PINK1):c.1123+19A>G
|
rs762129771
|
0.00001
|
|
NM_032409.3(PINK1):c.388-10C>G
|
rs763983499
|
0.00001
|
|
NM_032415.7(CARD11):c.715A>G (p.Met239Val)
|
rs541337893
|
0.00001
|
|
NM_032444.4(SLX4):c.2099G>A (p.Gly700Glu)
|
rs373081094
|
0.00001
|
|
NM_032444.4(SLX4):c.5081C>T (p.Ala1694Val)
|
rs761226343
|
0.00001
|
|
NM_032520.5(GNPTG):c.297C>T (p.Asn99=)
|
rs201045559
|
0.00001
|
|
NM_032578.4(MYPN):c.1876G>A (p.Asp626Asn)
|
rs754064567
|
0.00001
|
|
NM_032634.4(PIGO):c.1416A>T (p.Ala472=)
|
rs749630366
|
0.00001
|
|
NM_032634.4(PIGO):c.2874G>C (p.Leu958=)
|
rs1269359376
|
0.00001
|
|
NM_032638.5(GATA2):c.1020G>A (p.Ser340=)
|
rs370166358
|
0.00001
|
|
NM_032977.4(CASP10):c.442-14T>G
|
rs755555484
|
0.00001
|
|
NM_032977.4(CASP10):c.81T>C (p.Ile27=)
|
rs751728796
|
0.00001
|
|
NM_033056.4(PCDH15):c.4608A>G (p.Val1536=)
|
rs727504070
|
0.00001
|
|
NM_033056.4(PCDH15):c.4719G>A (p.Leu1573=)
|
rs529962978
|
0.00001
|
|
NM_033056.4(PCDH15):c.5805G>T (p.Gly1935=)
|
rs727504069
|
0.00001
|
|
NM_033056.4(PCDH15):c.5839C>T (p.Gln1947Ter)
|
rs1457208099
|
0.00001
|
|
NM_033109.5(PNPT1):c.1923G>A (p.Gln641=)
|
rs779794474
|
0.00001
|
|
NM_033109.5(PNPT1):c.2213G>A (p.Arg738His)
|
rs574670461
|
0.00001
|
|
NM_033159.4(HYAL1):c.1047G>C (p.Leu349=)
|
rs782279681
|
0.00001
|
|
NM_033159.4(HYAL1):c.630T>C (p.Tyr210=)
|
rs781838448
|
0.00001
|
|
NM_033305.3(VPS13A):c.8356A>C (p.Arg2786=)
|
rs752608628
|
0.00001
|
|
NM_033305.3(VPS13A):c.927A>G (p.Ala309=)
|
rs749004984
|
0.00001
|
|
NM_033337.3(CAV3):c.-2C>T
|
rs772475990
|
0.00001
|
|
NM_033337.3(CAV3):c.117G>C (p.Val39=)
|
rs753959620
|
0.00001
|
|
NM_033380.3(COL4A5):c.3095T>C (p.Met1032Thr)
|
rs754487739
|
0.00001
|
|
NM_033380.3(COL4A5):c.3141T>C (p.Ser1047=)
|
rs1350852221
|
0.00001
|
|
NM_033641.4(COL4A6):c.1987G>A (p.Gly663Ser)
|
rs139988853
|
0.00001
|
|
NM_033641.4(COL4A6):c.2164C>T (p.Pro722Ser)
|
rs748867663
|
0.00001
|
|
NM_052813.5(CARD9):c.185-5C>T
|
rs760533705
|
0.00001
|
|
NM_052813.5(CARD9):c.549C>T (p.Tyr183=)
|
rs528585158
|
0.00001
|
|
NM_052813.5(CARD9):c.636G>A (p.Gln212=)
|
rs759411705
|
0.00001
|
|
NM_052845.4(MMAB):c.349-10C>T
|
rs896742047
|
0.00001
|
|
NM_052845.4(MMAB):c.516G>T (p.Leu172=)
|
rs914000089
|
0.00001
|
|
NM_052845.4(MMAB):c.522G>A (p.Ser174=)
|
rs545625368
|
0.00001
|
|
NM_052845.4(MMAB):c.99G>A (p.Gln33=)
|
rs749127574
|
0.00001
|
|
NM_052859.4(RFT1):c.201C>T (p.Arg67=)
|
rs954135080
|
0.00001
|
|
NM_052867.4(NALCN):c.4466G>A (p.Arg1489His)
|
rs149644813
|
0.00001
|
|
NM_052874.5(STX1B):c.845T>C (p.Ile282Thr)
|
rs763428520
|
0.00001
|
|
NM_053013.4(ENO3):c.363G>A (p.Ala121=)
|
rs201872558
|
0.00001
|
|
NM_053025.4(MYLK):c.1630C>T (p.Arg544Trp)
|
rs552998417
|
0.00001
|
|
NM_053025.4(MYLK):c.1745C>A (p.Thr582Asn)
|
rs749069560
|
0.00001
|
|
NM_053025.4(MYLK):c.2227G>A (p.Ala743Thr)
|
rs145191000
|
0.00001
|
|
NM_053025.4(MYLK):c.2604C>T (p.Asp868=)
|
rs372924929
|
0.00001
|
|
NM_053025.4(MYLK):c.3336C>A (p.Gly1112=)
|
rs1060504648
|
0.00001
|
|
NM_053025.4(MYLK):c.3372C>T (p.Asp1124=)
|
rs774568740
|
0.00001
|
|
NM_053025.4(MYLK):c.3900G>A (p.Ala1300=)
|
rs563116446
|
0.00001
|
|
NM_053025.4(MYLK):c.4700G>A (p.Arg1567Gln)
|
rs757766496
|
0.00001
|
|
NM_053025.4(MYLK):c.5703G>A (p.Thr1901=)
|
rs540804249
|
0.00001
|
|
NM_053025.4(MYLK):c.588+10C>T
|
rs886038709
|
0.00001
|
|
NM_053025.4(MYLK):c.593A>G (p.Asn198Ser)
|
rs201835018
|
0.00001
|
|
NM_054012.4(ASS1):c.1083C>T (p.Leu361=)
|
rs78564724
|
0.00001
|
|
NM_058195.4(CDKN2A):c.-39G>A
|
rs1064793537
|
0.00001
|
|
NM_058216.3(RAD51C):c.1064G>A (p.Cys355Tyr)
|
rs1555605562
|
0.00001
|
|
NM_058216.3(RAD51C):c.1097G>A (p.Arg366Gln)
|
rs577852020
|
0.00001
|
|
NM_058216.3(RAD51C):c.154A>C (p.Ile52Leu)
|
rs730881927
|
0.00001
|
|
NM_058216.3(RAD51C):c.234A>G (p.Thr78=)
|
rs730881929
|
0.00001
|
|
NM_058216.3(RAD51C):c.404+7T>C
|
rs1350153132
|
0.00001
|
|
NM_058216.3(RAD51C):c.435A>G (p.Pro145=)
|
rs555235745
|
0.00001
|
|
NM_058216.3(RAD51C):c.563A>T (p.Lys188Met)
|
rs587781680
|
0.00001
|
|
NM_058216.3(RAD51C):c.621T>A (p.His207Gln)
|
rs786201848
|
0.00001
|
|
NM_058216.3(RAD51C):c.641G>A (p.Arg214His)
|
rs760911964
|
0.00001
|
|
NM_058216.3(RAD51C):c.779G>A (p.Arg260Gln)
|
rs730881926
|
0.00001
|
|
NM_058216.3(RAD51C):c.966-12T>C
|
rs1057522948
|
0.00001
|
|
NM_058216.3(RAD51C):c.9G>C (p.Gly3=)
|
rs751117852
|
0.00001
|
|
NM_058246.4(DNAJB6):c.723G>A (p.Glu241=)
|
rs886062129
|
0.00001
|
|
NM_080424.4(SP110):c.711C>T (p.Asp237=)
|
rs1167489264
|
0.00001
|
|
NM_080680.3(COL11A2):c.1298G>A (p.Arg433Gln)
|
rs762813373
|
0.00001
|
|
NM_080680.3(COL11A2):c.1399G>A (p.Val467Met)
|
rs755731113
|
0.00001
|
|
NM_080680.3(COL11A2):c.143G>A (p.Arg48Gln)
|
rs760502556
|
0.00001
|
|
NM_080680.3(COL11A2):c.2346C>A (p.Asp782Glu)
|
rs769588312
|
0.00001
|
|
NM_080680.3(COL11A2):c.2356C>T (p.Pro786Ser)
|
rs997884133
|
0.00001
|
|
NM_080680.3(COL11A2):c.2416C>T (p.Arg806Cys)
|
rs376355040
|
0.00001
|
|
NM_080680.3(COL11A2):c.2425C>G (p.Pro809Ala)
|
rs1483323590
|
0.00001
|
|
NM_080680.3(COL11A2):c.2510G>A (p.Arg837Gln)
|
rs773908748
|
0.00001
|
|
NM_080680.3(COL11A2):c.2518C>T (p.Arg840Trp)
|
rs769151199
|
0.00001
|
|
NM_080680.3(COL11A2):c.2519G>A (p.Arg840Gln)
|
rs538425732
|
0.00001
|
|
NM_080680.3(COL11A2):c.2812C>T (p.Pro938Ser)
|
rs764935691
|
0.00001
|
|
NM_080680.3(COL11A2):c.3118C>A (p.Pro1040Thr)
|
rs759919085
|
0.00001
|
|
NM_080680.3(COL11A2):c.3326C>A (p.Pro1109His)
|
rs751465004
|
0.00001
|
|
NM_080680.3(COL11A2):c.3335C>A (p.Pro1112His)
|
rs759086485
|
0.00001
|
|
NM_080680.3(COL11A2):c.3392G>A (p.Arg1131Gln)
|
rs529015303
|
0.00001
|
|
NM_080680.3(COL11A2):c.3609T>G (p.Val1203=)
|
rs768558233
|
0.00001
|
|
NM_080680.3(COL11A2):c.3697C>T (p.Arg1233Cys)
|
rs780613380
|
0.00001
|
|
NM_080680.3(COL11A2):c.3799-9C>G
|
rs762361602
|
0.00001
|
|
NM_080680.3(COL11A2):c.3859G>C (p.Asp1287His)
|
rs1219133025
|
0.00001
|
|
NM_080680.3(COL11A2):c.3878G>A (p.Arg1293Gln)
|
rs727504832
|
0.00001
|
|
NM_080680.3(COL11A2):c.4307C>T (p.Pro1436Leu)
|
rs1338682682
|
0.00001
|
|
NM_080680.3(COL11A2):c.453T>C (p.Arg151=)
|
rs147115504
|
0.00001
|
|
NM_080680.3(COL11A2):c.4951G>A (p.Val1651Ile)
|
rs766589324
|
0.00001
|
|
NM_080680.3(COL11A2):c.4970G>T (p.Gly1657Val)
|
rs1300439797
|
0.00001
|
|
NM_080680.3(COL11A2):c.5083C>T (p.Arg1695Trp)
|
rs534700620
|
0.00001
|
|
NM_080680.3(COL11A2):c.5084G>A (p.Arg1695Gln)
|
rs781633250
|
0.00001
|
|
NM_080680.3(COL11A2):c.689G>A (p.Gly230Glu)
|
rs143571317
|
0.00001
|
|
NM_080916.3(DGUOK):c.143-4G>A
|
rs544350167
|
0.00001
|
|
NM_080916.3(DGUOK):c.405G>A (p.Lys135=)
|
rs775871024
|
0.00001
|
|
NM_080916.3(DGUOK):c.808-10C>G
|
rs758503693
|
0.00001
|
|
NM_130468.4(CHST14):c.198C>G (p.Ala66=)
|
rs1014902072
|
0.00001
|
|
NM_130837.3(OPA1):c.1398T>C (p.Ala466=)
|
rs886043473
|
0.00001
|
|
NM_130837.3(OPA1):c.205C>G (p.Pro69Ala)
|
rs750775588
|
0.00001
|
|
NM_130837.3(OPA1):c.212G>A (p.Arg71His)
|
rs766106312
|
0.00001
|
|
NM_130837.3(OPA1):c.2228C>T (p.Pro743Leu)
|
rs746579947
|
0.00001
|
|
NM_130837.3(OPA1):c.2617C>T (p.Arg873Trp)
|
rs143252541
|
0.00001
|
|
NM_130837.3(OPA1):c.2729T>G (p.Leu910Arg)
|
rs139106405
|
0.00001
|
|
NM_130837.3(OPA1):c.3017C>G (p.Ala1006Gly)
|
rs577055148
|
0.00001
|
|
NM_130837.3(OPA1):c.517G>A (p.Val173Ile)
|
rs778997114
|
0.00001
|
|
NM_130837.3(OPA1):c.626C>T (p.Thr209Met)
|
rs772596317
|
0.00001
|
|
NM_130837.3(OPA1):c.661G>A (p.Asp221Asn)
|
rs367814426
|
0.00001
|
|
NM_130837.3(OPA1):c.89T>C (p.Leu30Pro)
|
rs758056583
|
0.00001
|
|
NM_130839.5(UBE3A):c.1272C>T (p.Pro424=)
|
rs1057520392
|
0.00001
|
|
NM_130839.5(UBE3A):c.1881T>C (p.Asp627=)
|
rs587784522
|
0.00001
|
|
NM_130839.5(UBE3A):c.1965A>G (p.Leu655=)
|
rs371296838
|
0.00001
|
|
NM_130839.5(UBE3A):c.2415T>C (p.Phe805=)
|
rs587780991
|
0.00001
|
|
NM_133259.4(LRPPRC):c.2385C>T (p.Gly795=)
|
rs886056056
|
0.00001
|
|
NM_133259.4(LRPPRC):c.3641A>G (p.Gln1214Arg)
|
rs140482502
|
0.00001
|
|
NM_133259.4(LRPPRC):c.814G>A (p.Ala272Thr)
|
rs200061143
|
0.00001
|
|
NM_133379.5(TTN):c.10733A>G (p.Tyr3578Cys)
|
rs200420921
|
0.00001
|
|
NM_133379.5(TTN):c.11940T>C (p.Asn3980=)
|
rs923904530
|
0.00001
|
|
NM_133379.5(TTN):c.14055A>G (p.Arg4685=)
|
rs1466986172
|
0.00001
|
|
NM_133379.5(TTN):c.14656A>G (p.Asn4886Asp)
|
rs753546575
|
0.00001
|
|
NM_133379.5(TTN):c.14902G>A (p.Asp4968Asn)
|
rs371444691
|
0.00001
|
|
NM_133433.4(NIPBL):c.1392T>A (p.Pro464=)
|
rs555179389
|
0.00001
|
|
NM_133433.4(NIPBL):c.3660G>A (p.Ala1220=)
|
rs143252734
|
0.00001
|
|
NM_133433.4(NIPBL):c.5295G>A (p.Pro1765=)
|
rs758853244
|
0.00001
|
|
NM_133433.4(NIPBL):c.6400C>T (p.Leu2134=)
|
rs372730081
|
0.00001
|
|
NM_133433.4(NIPBL):c.7411-15G>A
|
rs374348403
|
0.00001
|
|
NM_133433.4(NIPBL):c.7641C>T (p.Leu2547=)
|
rs587784046
|
0.00001
|
|
NM_133433.4(NIPBL):c.772-8A>G
|
rs398124473
|
0.00001
|
|
NM_133642.5(LARGE1):c.1005+15T>G
|
rs1414312676
|
0.00001
|
|
NM_133642.5(LARGE1):c.1611G>A (p.Glu537=)
|
rs372629986
|
0.00001
|
|
NM_133642.5(LARGE1):c.492-6C>G
|
rs762612242
|
0.00001
|
|
NM_138386.3(NAF1):c.36A>G (p.Glu12=)
|
rs959538930
|
0.00001
|
|
NM_138386.3(NAF1):c.878+7A>G
|
rs376575422
|
0.00001
|
|
NM_138413.4(HOGA1):c.294G>A (p.Gln98=)
|
rs777208958
|
0.00001
|
|
NM_138691.3(TMC1):c.1233G>A (p.Met411Ile)
|
rs184603559
|
0.00001
|
|
NM_138694.4(PKHD1):c.10893T>C (p.Tyr3631=)
|
rs1290859259
|
0.00001
|
|
NM_138694.4(PKHD1):c.1693+10G>A
|
rs886061621
|
0.00001
|
|
NM_138694.4(PKHD1):c.192C>T (p.Asn64=)
|
rs148089143
|
0.00001
|
|
NM_138694.4(PKHD1):c.2141-4C>G
|
rs1042054004
|
0.00001
|
|
NM_138694.4(PKHD1):c.2697T>A (p.Thr899=)
|
rs1562217633
|
0.00001
|
|
NM_138694.4(PKHD1):c.3148A>G (p.Ile1050Val)
|
rs727504088
|
0.00001
|
|
NM_138694.4(PKHD1):c.3462A>G (p.Thr1154=)
|
rs758231968
|
0.00001
|
|
NM_138694.4(PKHD1):c.414C>T (p.Ile138=)
|
rs368595925
|
0.00001
|
|
NM_138694.4(PKHD1):c.5160C>T (p.Asp1720=)
|
rs754333450
|
0.00001
|
|
NM_138694.4(PKHD1):c.5556T>C (p.His1852=)
|
rs549418638
|
0.00001
|
|
NM_138694.4(PKHD1):c.5601-8C>T
|
rs578030952
|
0.00001
|
|
NM_138694.4(PKHD1):c.6042C>T (p.Tyr2014=)
|
rs373208457
|
0.00001
|
|
NM_138694.4(PKHD1):c.6054C>T (p.Tyr2018=)
|
rs774944622
|
0.00001
|
|
NM_138694.4(PKHD1):c.642G>A (p.Gln214=)
|
rs762584715
|
0.00001
|
|
NM_138694.4(PKHD1):c.6499C>A (p.Gln2167Lys)
|
rs368263958
|
0.00001
|
|
NM_138694.4(PKHD1):c.7284C>T (p.Asp2428=)
|
rs200807210
|
0.00001
|
|
NM_138694.4(PKHD1):c.7308T>G (p.Thr2436=)
|
rs771622189
|
0.00001
|
|
NM_138694.4(PKHD1):c.7641A>G (p.Ser2547=)
|
rs771563591
|
0.00001
|
|
NM_138694.4(PKHD1):c.7733+15C>A
|
rs771759749
|
0.00001
|
|
NM_138694.4(PKHD1):c.8181C>G (p.Thr2727=)
|
rs759658629
|
0.00001
|
|
NM_138927.4(SON):c.2713A>G (p.Met905Val)
|
rs763563040
|
0.00001
|
|
NM_138927.4(SON):c.5950C>T (p.Arg1984Trp)
|
rs1312220322
|
0.00001
|
|
NM_138927.4(SON):c.77+6C>G
|
rs201422694
|
0.00001
|
|
NM_139058.3(ARX):c.187G>A (p.Ala63Thr)
|
rs769996976
|
0.00001
|
|
NM_139076.3(ABRAXAS1):c.578G>A (p.Arg193Gln)
|
rs138594808
|
0.00001
|
|
NM_139076.3(ABRAXAS1):c.952G>A (p.Asp318Asn)
|
rs775345294
|
0.00001
|
|
NM_139242.4(MTFMT):c.720C>T (p.Tyr240=)
|
rs753929457
|
0.00001
|
|
NM_139242.4(MTFMT):c.721+3G>A
|
rs374845427
|
0.00001
|
|
NM_139276.3(STAT3):c.657T>C (p.Ser219=)
|
rs886052943
|
0.00001
|
|
NM_139343.3(BIN1):c.1092C>T (p.Asp364=)
|
rs745647728
|
0.00001
|
|
NM_139343.3(BIN1):c.1675-7C>T
|
rs372449622
|
0.00001
|
|
NM_139343.3(BIN1):c.698+15G>A
|
rs535176915
|
0.00001
|
|
NM_139343.3(BIN1):c.84+15G>T
|
rs769721985
|
0.00001
|
|
NM_144573.4(NEXN):c.1653A>G (p.Leu551=)
|
rs794727078
|
0.00001
|
|
NM_144599.5(NIPA1):c.267G>A (p.Ala89=)
|
rs751391752
|
0.00001
|
|
NM_144670.6(A2ML1):c.1248+7A>G
|
rs765019682
|
0.00001
|
|
NM_144670.6(A2ML1):c.1683+6A>G
|
rs370846070
|
0.00001
|
|
NM_144670.6(A2ML1):c.2006C>T (p.Thr669Met)
|
rs745912214
|
0.00001
|
|
NM_144670.6(A2ML1):c.2147A>G (p.Glu716Gly)
|
rs770357451
|
0.00001
|
|
NM_144670.6(A2ML1):c.2712+12T>A
|
rs774960083
|
0.00001
|
|
NM_144670.6(A2ML1):c.3247C>T (p.Leu1083Phe)
|
rs371934378
|
0.00001
|
|
NM_144670.6(A2ML1):c.3495C>G (p.Ile1165Met)
|
rs868320081
|
0.00001
|
|
NM_144670.6(A2ML1):c.3936G>A (p.Thr1312=)
|
rs375784426
|
0.00001
|
|
NM_144670.6(A2ML1):c.4000G>C (p.Gly1334Arg)
|
rs1052149878
|
0.00001
|
|
NM_144670.6(A2ML1):c.4221+17C>T
|
rs772852256
|
0.00001
|
|
NM_144670.6(A2ML1):c.483+6C>T
|
rs754169968
|
0.00001
|
|
NM_144670.6(A2ML1):c.970+13C>T
|
rs748203389
|
0.00001
|
|
NM_144670.6(A2ML1):c.976G>T (p.Glu326Ter)
|
rs1007463257
|
0.00001
|
|
NM_144672.4(OTOA):c.1807-6T>C
|
rs767786513
|
0.00001
|
|
NM_144687.4(NLRP12):c.2244-14C>T
|
rs866055657
|
0.00001
|
|
NM_144687.4(NLRP12):c.654G>A (p.Ala218=)
|
rs745766441
|
0.00001
|
|
NM_144687.4(NLRP12):c.861G>A (p.Glu287=)
|
rs765562062
|
0.00001
|
|
NM_144992.5(VWA3B):c.1296C>T (p.Ser432=)
|
rs375244468
|
0.00001
|
|
NM_144997.7(FLCN):c.1022G>A (p.Arg341Gln)
|
rs375352888
|
0.00001
|
|
NM_144997.7(FLCN):c.1160C>T (p.Ala387Val)
|
rs1431737113
|
0.00001
|
|
NM_144997.7(FLCN):c.1312A>T (p.Ile438Phe)
|
rs759743111
|
0.00001
|
|
NM_144997.7(FLCN):c.1415C>T (p.Pro472Leu)
|
rs1180118315
|
0.00001
|
|
NM_144997.7(FLCN):c.257G>A (p.Arg86Gln)
|
rs765550303
|
0.00001
|
|
NM_145207.3(AFG2A):c.164-4A>G
|
rs752411823
|
0.00001
|
|
NM_145239.3(PRRT2):c.883C>T (p.Arg295Trp)
|
rs200185554
|
0.00001
|
|
NM_145239.3(PRRT2):c.912C>T (p.Asp304=)
|
rs759633234
|
0.00001
|
|
NM_145698.5(ACBD5):c.262T>C (p.Ser88Pro)
|
rs199700938
|
0.00001
|
|
NM_147127.5(EVC2):c.2758C>T (p.Leu920Phe)
|
rs762404021
|
0.00001
|
|
NM_148919.4(PSMB8):c.686G>A (p.Arg229His)
|
rs547653681
|
0.00001
|
|
NM_152263.4(TPM3):c.643-3C>T
|
rs529845435
|
0.00001
|
|
NM_152269.5(MTRFR):c.90G>A (p.Thr30=)
|
rs775127232
|
0.00001
|
|
NM_152281.3(GORAB):c.662G>A (p.Arg221Gln)
|
rs773728833
|
0.00001
|
|
NM_152281.3(GORAB):c.954G>C (p.Val318=)
|
rs483352768
|
0.00001
|
|
NM_152296.5(ATP1A3):c.1303-15C>A
|
rs782749835
|
0.00001
|
|
NM_152296.5(ATP1A3):c.2307C>T (p.Thr769=)
|
rs886054473
|
0.00001
|
|
NM_152296.5(ATP1A3):c.2418+9T>A
|
rs950336124
|
0.00001
|
|
NM_152296.5(ATP1A3):c.936C>A (p.Ile312=)
|
rs782140994
|
0.00001
|
|
NM_152383.5(DIS3L2):c.1425+13A>G
|
rs565049855
|
0.00001
|
|
NM_152383.5(DIS3L2):c.1809G>A (p.Glu603=)
|
rs748787779
|
0.00001
|
|
NM_152383.5(DIS3L2):c.2151C>T (p.Ala717=)
|
rs747739911
|
0.00001
|
|
NM_152383.5(DIS3L2):c.2394C>T (p.Asn798=)
|
rs773602107
|
0.00001
|
|
NM_152383.5(DIS3L2):c.2637C>T (p.Pro879=)
|
rs376299829
|
0.00001
|
|
NM_152564.5(VPS13B):c.10237G>T (p.Ala3413Ser)
|
rs79324124
|
0.00001
|
|
NM_152564.5(VPS13B):c.10776G>A (p.Ser3592=)
|
rs547516730
|
0.00001
|
|
NM_152564.5(VPS13B):c.11040C>T (p.Ser3680=)
|
rs199748413
|
0.00001
|
|
NM_152564.5(VPS13B):c.11070C>T (p.Leu3690=)
|
rs185477101
|
0.00001
|
|
NM_152564.5(VPS13B):c.11202C>T (p.Gly3734=)
|
rs766658666
|
0.00001
|
|
NM_152564.5(VPS13B):c.11215+8G>T
|
rs1285906381
|
0.00001
|
|
NM_152564.5(VPS13B):c.1137A>G (p.Lys379=)
|
rs1847925535
|
0.00001
|
|
NM_152564.5(VPS13B):c.114C>T (p.Ser38=)
|
rs768496696
|
0.00001
|
|
NM_152564.5(VPS13B):c.207A>T (p.Val69=)
|
rs772922484
|
0.00001
|
|
NM_152564.5(VPS13B):c.2244T>C (p.Asp748=)
|
rs146450992
|
0.00001
|
|
NM_152564.5(VPS13B):c.2651-10T>G
|
rs398124330
|
0.00001
|
|
NM_152564.5(VPS13B):c.5221-5T>C
|
rs761788793
|
0.00001
|
|
NM_152564.5(VPS13B):c.5472G>A (p.Met1824Ile)
|
rs771916272
|
0.00001
|
|
NM_152564.5(VPS13B):c.5796T>C (p.Phe1932=)
|
rs765209957
|
0.00001
|
|
NM_152564.5(VPS13B):c.6591C>T (p.Ser2197=)
|
rs774730061
|
0.00001
|
|
NM_152564.5(VPS13B):c.6866-14C>A
|
rs1277958075
|
0.00001
|
|
NM_152564.5(VPS13B):c.7087A>C (p.Lys2363Gln)
|
rs533701597
|
0.00001
|
|
NM_152564.5(VPS13B):c.7716A>G (p.Val2572=)
|
rs981350121
|
0.00001
|
|
NM_152564.5(VPS13B):c.7965T>C (p.Gly2655=)
|
rs758430817
|
0.00001
|
|
NM_152564.5(VPS13B):c.8361+12C>T
|
rs886062546
|
0.00001
|
|
NM_152564.5(VPS13B):c.8429A>C (p.Gln2810Pro)
|
rs769551176
|
0.00001
|
|
NM_152564.5(VPS13B):c.8958T>G (p.Val2986=)
|
rs753530965
|
0.00001
|
|
NM_152564.5(VPS13B):c.9339T>A (p.Arg3113=)
|
rs78277780
|
0.00001
|
|
NM_152564.5(VPS13B):c.9603A>G (p.Gly3201=)
|
rs564362618
|
0.00001
|
|
NM_152594.3(SPRED1):c.196A>C (p.Arg66=)
|
rs751923342
|
0.00001
|
|
NM_152594.3(SPRED1):c.211G>A (p.Val71Ile)
|
rs369150309
|
0.00001
|
|
NM_152783.5(D2HGDH):c.1446G>A (p.Lys482=)
|
rs763276027
|
0.00001
|
|
NM_152783.5(D2HGDH):c.963C>T (p.Val321=)
|
rs141524359
|
0.00001
|
|
NM_152906.7(TANGO2):c.711-11C>G
|
rs201850506
|
0.00001
|
|
NM_153240.5(NPHP3):c.2154C>T (p.Phe718=)
|
rs558637226
|
0.00001
|
|
NM_153240.5(NPHP3):c.306C>T (p.Arg102=)
|
rs762134618
|
0.00001
|
|
NM_153252.5(BRWD3):c.3690A>G (p.Ala1230=)
|
rs797045419
|
0.00001
|
|
NM_153603.4(COG7):c.687+14C>T
|
rs139853094
|
0.00001
|
|
NM_153676.4(USH1C):c.2391G>A (p.Val797=)
|
rs375973884
|
0.00001
|
|
NM_153676.4(USH1C):c.2410G>A (p.Ala804Thr)
|
rs150593932
|
0.00001
|
|
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys)
|
rs397517880
|
0.00001
|
|
NM_153676.4(USH1C):c.92G>A (p.Arg31Gln)
|
rs776511246
|
0.00001
|
|
NM_153676.4(USH1C):c.966G>C (p.Arg322=)
|
rs748749433
|
0.00001
|
|
NM_170606.3(KMT2C):c.5851G>A (p.Asp1951Asn)
|
rs781220804
|
0.00001
|
|
NM_170606.3(KMT2C):c.709A>G (p.Ile237Val)
|
rs587778510
|
0.00001
|
|
NM_170707.4(LMNA):c.111G>A (p.Glu37=)
|
rs886038906
|
0.00001
|
|
NM_170707.4(LMNA):c.1182C>T (p.Thr394=)
|
rs1409406468
|
0.00001
|
|
NM_170707.4(LMNA):c.1488+8G>A
|
rs762836610
|
0.00001
|
|
NM_170707.4(LMNA):c.1699-8C>G
|
rs727503137
|
0.00001
|
|
NM_170707.4(LMNA):c.1764C>T (p.Cys588=)
|
rs759016336
|
0.00001
|
|
NM_170707.4(LMNA):c.1773C>T (p.Cys591=)
|
rs397517897
|
0.00001
|
|
NM_170707.4(LMNA):c.498G>A (p.Arg166=)
|
rs886043189
|
0.00001
|
|
NM_170707.4(LMNA):c.514-11C>T
|
rs886045365
|
0.00001
|
|
NM_170707.4(LMNA):c.643C>T (p.Leu215=)
|
rs397517905
|
0.00001
|
|
NM_170707.4(LMNA):c.870G>A (p.Glu290=)
|
rs747275587
|
0.00001
|
|
NM_170707.4(LMNA):c.952G>A (p.Ala318Thr)
|
rs267607574
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1209C>T (p.Leu403=)
|
rs752280961
|
0.00001
|
|
NM_172107.4(KCNQ2):c.2019G>A (p.Pro673=)
|
rs769646940
|
0.00001
|
|
NM_172107.4(KCNQ2):c.2052C>T (p.Gly684=)
|
rs764444302
|
0.00001
|
|
NM_172107.4(KCNQ2):c.88G>A (p.Gly30Ser)
|
rs915805727
|
0.00001
|
|
NM_172250.3(MMAA):c.129G>A (p.Pro43=)
|
rs779779664
|
0.00001
|
|
NM_172351.3(CD46):c.1050G>A (p.Pro350=)
|
rs1210978043
|
0.00001
|
|
NM_172362.3(KCNH1):c.2054C>T (p.Thr685Met)
|
rs1349830428
|
0.00001
|
|
NM_172362.3(KCNH1):c.2462G>A (p.Cys821Tyr)
|
rs775759879
|
0.00001
|
|
NM_173076.3(ABCA12):c.212T>A (p.Leu71Gln)
|
rs776056801
|
0.00001
|
|
NM_173076.3(ABCA12):c.899A>G (p.Tyr300Cys)
|
rs778915456
|
0.00001
|
|
NM_173477.5(USH1G):c.1382+3G>A
|
rs375297515
|
0.00001
|
|
NM_173651.4(FSIP2):c.7540T>C (p.Phe2514Leu)
|
rs551594235
|
0.00001
|
|
NM_173660.5(DOK7):c.193C>T (p.Leu65=)
|
rs546630800
|
0.00001
|
|
NM_174936.4(PCSK9):c.-8T>C
|
rs886039837
|
0.00001
|
|
NM_174936.4(PCSK9):c.1323G>A (p.Val441=)
|
rs1365723695
|
0.00001
|
|
NM_174936.4(PCSK9):c.2023G>A (p.Val675Ile)
|
rs760981278
|
0.00001
|
|
NM_174936.4(PCSK9):c.2038C>T (p.Arg680Trp)
|
rs533555352
|
0.00001
|
|
NM_174936.4(PCSK9):c.523G>A (p.Asp175Asn)
|
rs150898485
|
0.00001
|
|
NM_176824.3(BBS7):c.189G>T (p.Gly63=)
|
rs541833400
|
0.00001
|
|
NM_176824.3(BBS7):c.213G>A (p.Leu71=)
|
rs778509860
|
0.00001
|
|
NM_177402.5(SYT2):c.903C>T (p.Asp301=)
|
rs780359132
|
0.00001
|
|
NM_177438.3(DICER1):c.141T>C (p.Tyr47=)
|
rs1313430297
|
0.00001
|
|
NM_177438.3(DICER1):c.2496G>C (p.Lys832Asn)
|
rs769292296
|
0.00001
|
|
NM_177438.3(DICER1):c.2553G>A (p.Gln851=)
|
rs373715574
|
0.00001
|
|
NM_177438.3(DICER1):c.255C>G (p.Ile85Met)
|
rs763422772
|
0.00001
|
|
NM_177438.3(DICER1):c.3459C>T (p.Cys1153=)
|
rs1300692476
|
0.00001
|
|
NM_177438.3(DICER1):c.3987A>G (p.Thr1329=)
|
rs373810197
|
0.00001
|
|
NM_177438.3(DICER1):c.4189T>C (p.Trp1397Arg)
|
rs762677393
|
0.00001
|
|
NM_177438.3(DICER1):c.4283T>A (p.Met1428Lys)
|
rs996633792
|
0.00001
|
|
NM_177438.3(DICER1):c.4412C>T (p.Pro1471Leu)
|
rs1060503657
|
0.00001
|
|
NM_177438.3(DICER1):c.4888C>T (p.Arg1630Cys)
|
rs549532374
|
0.00001
|
|
NM_177438.3(DICER1):c.4894T>C (p.Ser1632Pro)
|
rs545392797
|
0.00001
|
|
NM_177438.3(DICER1):c.4911G>A (p.Ser1637=)
|
rs1447821588
|
0.00001
|
|
NM_177438.3(DICER1):c.5010A>G (p.Glu1670=)
|
rs886050940
|
0.00001
|
|
NM_177438.3(DICER1):c.5365-9C>T
|
rs778669119
|
0.00001
|
|
NM_177438.3(DICER1):c.5529A>G (p.Glu1843=)
|
rs768311617
|
0.00001
|
|
NM_177438.3(DICER1):c.5626G>A (p.Gly1876Arg)
|
rs770962059
|
0.00001
|
|
NM_177438.3(DICER1):c.5652A>G (p.Val1884=)
|
rs780084290
|
0.00001
|
|
NM_177438.3(DICER1):c.574-7_574-5del
|
rs753080447
|
0.00001
|
|
NM_177438.3(DICER1):c.5762A>G (p.Asn1921Ser)
|
rs764747360
|
0.00001
|
|
NM_177550.5(SLC13A5):c.402C>T (p.Leu134=)
|
rs1336828226
|
0.00001
|
|
NM_177924.5(ASAH1):c.216+6C>G
|
rs1267356970
|
0.00001
|
|
NM_178161.3(PTF1A):c.499G>A (p.Ala167Thr)
|
rs565666569
|
0.00001
|
|
NM_178335.3(CCDC50):c.1430-9C>G
|
rs794727079
|
0.00001
|
|
NM_182476.3(COQ6):c.982G>A (p.Ala328Thr)
|
rs564107029
|
0.00001
|
|
NM_182760.4(SUMF1):c.239T>A (p.Val80Glu)
|
rs752083773
|
0.00001
|
|
NM_182760.4(SUMF1):c.30T>C (p.Cys10=)
|
rs746169425
|
0.00001
|
|
NM_182760.4(SUMF1):c.447T>C (p.Ala149=)
|
rs750372409
|
0.00001
|
|
NM_182760.4(SUMF1):c.45G>A (p.Glu15=)
|
rs1460272243
|
0.00001
|
|
NM_182760.4(SUMF1):c.602+10G>T
|
rs376667963
|
0.00001
|
|
NM_182760.4(SUMF1):c.627G>C (p.Val209=)
|
rs748118171
|
0.00001
|
|
NM_182760.4(SUMF1):c.715C>T (p.Leu239=)
|
rs779864102
|
0.00001
|
|
NM_182894.3(VSX2):c.371-14C>T
|
rs750778630
|
0.00001
|
|
NM_182914.3(SYNE2):c.16378G>A (p.Ala5460Thr)
|
rs775169295
|
0.00001
|
|
NM_182914.3(SYNE2):c.16605+10A>G
|
rs761193543
|
0.00001
|
|
NM_182914.3(SYNE2):c.16854G>A (p.Val5618=)
|
rs1490325276
|
0.00001
|
|
NM_182914.3(SYNE2):c.17832G>A (p.Ala5944=)
|
rs886050596
|
0.00001
|
|
NM_182914.3(SYNE2):c.18015T>C (p.His6005=)
|
rs1323946751
|
0.00001
|
|
NM_182914.3(SYNE2):c.18393C>T (p.Ile6131=)
|
rs370317926
|
0.00001
|
|
NM_182914.3(SYNE2):c.3102C>T (p.Ser1034=)
|
rs886050580
|
0.00001
|
|
NM_182914.3(SYNE2):c.5835A>G (p.Leu1945=)
|
rs766666230
|
0.00001
|
|
NM_182914.3(SYNE2):c.9501G>T (p.Gln3167His)
|
rs1026697162
|
0.00001
|
|
NM_182961.4(SYNE1):c.10444-6T>C
|
rs376803162
|
0.00001
|
|
NM_182961.4(SYNE1):c.10650C>T (p.Asn3550=)
|
rs772377391
|
0.00001
|
|
NM_182961.4(SYNE1):c.11490G>A (p.Gln3830=)
|
rs746623465
|
0.00001
|
|
NM_182961.4(SYNE1):c.14079A>G (p.Gln4693=)
|
rs778820710
|
0.00001
|
|
NM_182961.4(SYNE1):c.16867C>T (p.Arg5623Cys)
|
rs570556738
|
0.00001
|
|
NM_182961.4(SYNE1):c.18090C>T (p.Ser6030=)
|
rs146238726
|
0.00001
|
|
NM_182961.4(SYNE1):c.18513G>T (p.Arg6171Ser)
|
rs764725032
|
0.00001
|
|
NM_182961.4(SYNE1):c.19815T>A (p.Gly6605=)
|
rs776418227
|
0.00001
|
|
NM_182961.4(SYNE1):c.20322G>A (p.Glu6774=)
|
rs758437949
|
0.00001
|
|
NM_182961.4(SYNE1):c.23145+6T>G
|
rs794727081
|
0.00001
|
|
NM_182961.4(SYNE1):c.24600C>T (p.Phe8200=)
|
rs370421580
|
0.00001
|
|
NM_182961.4(SYNE1):c.24633C>T (p.Ile8211=)
|
rs201078523
|
0.00001
|
|
NM_182961.4(SYNE1):c.26106G>A (p.Lys8702=)
|
rs765865910
|
0.00001
|
|
NM_182961.4(SYNE1):c.26355C>T (p.His8785=)
|
rs771334693
|
0.00001
|
|
NM_182961.4(SYNE1):c.3735C>T (p.Leu1245=)
|
rs758375991
|
0.00001
|
|
NM_182961.4(SYNE1):c.600A>T (p.Val200=)
|
rs781563259
|
0.00001
|
|
NM_182961.4(SYNE1):c.7611G>T (p.Arg2537Ser)
|
rs568309673
|
0.00001
|
|
NM_182961.4(SYNE1):c.9349G>A (p.Gly3117Arg)
|
rs566953005
|
0.00001
|
|
NM_182961.4(SYNE1):c.9933C>T (p.Ser3311=)
|
rs759403157
|
0.00001
|
|
NM_183357.3(ADCY5):c.146C>T (p.Ser49Phe)
|
rs762609054
|
0.00001
|
|
NM_183357.3(ADCY5):c.150C>G (p.Ala50=)
|
rs1387460227
|
0.00001
|
|
NM_194248.3(OTOF):c.222C>G (p.Ser74Arg)
|
rs764474318
|
0.00001
|
|
NM_194248.3(OTOF):c.2248A>G (p.Lys750Glu)
|
rs551919295
|
0.00001
|
|
NM_194248.3(OTOF):c.2282G>A (p.Arg761Gln)
|
rs141544736
|
0.00001
|
|
NM_194248.3(OTOF):c.251T>C (p.Val84Ala)
|
rs727505096
|
0.00001
|
|
NM_194248.3(OTOF):c.2690G>A (p.Arg897Gln)
|
rs760896684
|
0.00001
|
|
NM_194248.3(OTOF):c.4474G>A (p.Val1492Met)
|
rs368297003
|
0.00001
|
|
NM_194248.3(OTOF):c.5553G>C (p.Leu1851=)
|
rs747844017
|
0.00001
|
|
NM_194248.3(OTOF):c.5632G>A (p.Val1878Met)
|
rs757360892
|
0.00001
|
|
NM_194248.3(OTOF):c.5712+6C>G
|
rs200435099
|
0.00001
|
|
NM_198252.3(GSN):c.1506C>T (p.Arg502=)
|
rs199681748
|
0.00001
|
|
NM_198253.3(TERT):c.1043G>A (p.Ser348Asn)
|
rs1279397908
|
0.00001
|
|
NM_198253.3(TERT):c.1692G>A (p.Thr564=)
|
rs377217777
|
0.00001
|
|
NM_198253.3(TERT):c.3018G>C (p.Leu1006=)
|
rs941352340
|
0.00001
|
|
NM_198253.3(TERT):c.456G>C (p.Leu152=)
|
rs757121533
|
0.00001
|
|
NM_198282.4(STING1):c.40A>C (p.Arg14=)
|
rs761439213
|
0.00001
|
|
NM_198334.3(GANAB):c.292A>G (p.Met98Val)
|
rs762692505
|
0.00001
|
|
NM_198506.5(LRIT3):c.654C>T (p.Val218=)
|
rs763629262
|
0.00001
|
|
NM_198525.3(KIF7):c.1218C>G (p.Gly406=)
|
rs886051536
|
0.00001
|
|
NM_198525.3(KIF7):c.3112-10G>A
|
rs370548253
|
0.00001
|
|
NM_198525.3(KIF7):c.3477G>A (p.Glu1159=)
|
rs886192389
|
0.00001
|
|
NM_198525.3(KIF7):c.3894G>A (p.Ala1298=)
|
rs370333561
|
0.00001
|
|
NM_198525.3(KIF7):c.3957G>T (p.Gly1319=)
|
rs886051529
|
0.00001
|
|
NM_198525.3(KIF7):c.510A>G (p.Glu170=)
|
rs761029778
|
0.00001
|
|
NM_198859.4(PRICKLE2):c.516G>A (p.Leu172=)
|
rs727504105
|
0.00001
|
|
NM_198904.4(GABRG2):c.1002G>A (p.Ala334=)
|
rs371601817
|
0.00001
|
|
NM_198904.4(GABRG2):c.1110T>C (p.Asp370=)
|
rs201824364
|
0.00001
|
|
NM_198904.4(GABRG2):c.1172G>A (p.Arg391His)
|
rs528036202
|
0.00001
|
|
NM_198904.4(GABRG2):c.1389G>A (p.Leu463=)
|
rs765904792
|
0.00001
|
|
NM_198904.4(GABRG2):c.375T>A (p.Arg125=)
|
rs767423340
|
0.00001
|
|
NM_198904.4(GABRG2):c.37G>A (p.Val13Ile)
|
rs796052502
|
0.00001
|
|
NM_198904.4(GABRG2):c.769+10A>G
|
rs765703079
|
0.00001
|
|
NM_198994.3(TGM6):c.573C>G (p.Leu191=)
|
rs1347908694
|
0.00001
|
|
NM_198999.3(SLC26A5):c.117T>G (p.Pro39=)
|
rs764308981
|
0.00001
|
|
NM_199242.3(UNC13D):c.156G>T (p.Arg52=)
|
rs111728477
|
0.00001
|
|
NM_199242.3(UNC13D):c.3141C>A (p.Pro1047=)
|
rs866899109
|
0.00001
|
|
NM_199242.3(UNC13D):c.760C>T (p.Arg254Cys)
|
rs558726483
|
0.00001
|
|
NM_201253.3(CRB1):c.1752C>T (p.Asp584=)
|
rs750442312
|
0.00001
|
|
NM_201384.3(PLEC):c.11562C>T (p.Arg3854=)
|
rs781931763
|
0.00001
|
|
NM_201384.3(PLEC):c.12354C>T (p.Leu4118=)
|
rs782692436
|
0.00001
|
|
NM_201384.3(PLEC):c.13023G>A (p.Val4341=)
|
rs567904252
|
0.00001
|
|
NM_201384.3(PLEC):c.1304C>T (p.Ala435Val)
|
rs782509734
|
0.00001
|
|
NM_201384.3(PLEC):c.3081+9C>T
|
rs371983298
|
0.00001
|
|
NM_201384.3(PLEC):c.3734G>A (p.Arg1245Gln)
|
rs376541112
|
0.00001
|
|
NM_201384.3(PLEC):c.4117C>T (p.Arg1373Trp)
|
rs782378494
|
0.00001
|
|
NM_201384.3(PLEC):c.4220C>T (p.Ala1407Val)
|
rs548430154
|
0.00001
|
|
NM_201384.3(PLEC):c.537A>G (p.Arg179=)
|
rs782604399
|
0.00001
|
|
NM_201384.3(PLEC):c.5948G>A (p.Arg1983His)
|
rs527947459
|
0.00001
|
|
NM_201384.3(PLEC):c.6845G>A (p.Arg2282Gln)
|
rs782316711
|
0.00001
|
|
NM_201384.3(PLEC):c.8066G>A (p.Arg2689His)
|
rs782161008
|
0.00001
|
|
NM_201384.3(PLEC):c.8175G>A (p.Thr2725=)
|
rs1209777415
|
0.00001
|
|
NM_201384.3(PLEC):c.8202G>A (p.Ala2734=)
|
rs782252692
|
0.00001
|
|
NM_201384.3(PLEC):c.8735C>T (p.Ala2912Val)
|
rs935096656
|
0.00001
|
|
NM_201384.3(PLEC):c.9130C>T (p.Leu3044=)
|
rs782038680
|
0.00001
|
|
NM_201384.3(PLEC):c.9713C>T (p.Pro3238Leu)
|
rs782085661
|
0.00001
|
|
NM_201525.4(ADGRG1):c.1191C>T (p.Ala397=)
|
rs1367685651
|
0.00001
|
|
NM_201525.4(ADGRG1):c.1537C>T (p.Leu513=)
|
rs762771228
|
0.00001
|
|
NM_201525.4(ADGRG1):c.1578G>A (p.Thr526=)
|
rs727503955
|
0.00001
|
|
NM_201525.4(ADGRG1):c.733G>A (p.Gly245Ser)
|
rs564786398
|
0.00001
|
|
NM_203486.3(DLL3):c.409+6T>C
|
rs995675341
|
0.00001
|
|
NM_205768.3(ZBTB18):c.977T>C (p.Leu326Pro)
|
rs377231809
|
0.00001
|
|
NM_205861.3(DHDDS):c.324-4T>G
|
rs747118618
|
0.00001
|
|
NM_205861.3(DHDDS):c.366C>T (p.Gly122=)
|
rs774001400
|
0.00001
|
|
NM_205861.3(DHDDS):c.57C>T (p.Ile19=)
|
rs981419090
|
0.00001
|
|
NM_205861.3(DHDDS):c.987C>T (p.Gly329=)
|
rs1381026387
|
0.00001
|
|
NM_206933.4(USH2A):c.12625G>A (p.Glu4209Lys)
|
rs141943290
|
0.00001
|
|
NM_206933.4(USH2A):c.13097C>T (p.Ala4366Val)
|
rs727505097
|
0.00001
|
|
NM_206933.4(USH2A):c.13577G>A (p.Arg4526Gln)
|
rs527644737
|
0.00001
|
|
NM_206933.4(USH2A):c.13622A>C (p.Gln4541Pro)
|
rs143032902
|
0.00001
|
|
NM_206933.4(USH2A):c.14600A>T (p.His4867Leu)
|
rs374096293
|
0.00001
|
|
NM_206933.4(USH2A):c.14602G>A (p.Val4868Met)
|
rs727504686
|
0.00001
|
|
NM_206933.4(USH2A):c.15052+8A>G
|
rs773109018
|
0.00001
|
|
NM_206933.4(USH2A):c.1678C>G (p.Pro560Ala)
|
rs147509797
|
0.00001
|
|
NM_206933.4(USH2A):c.3489C>T (p.Asp1163=)
|
rs139156019
|
0.00001
|
|
NM_206933.4(USH2A):c.3887T>C (p.Val1296Ala)
|
rs552551256
|
0.00001
|
|
NM_206933.4(USH2A):c.4313G>A (p.Arg1438Lys)
|
rs876657627
|
0.00001
|
|
NM_206933.4(USH2A):c.4837A>G (p.Ile1613Val)
|
rs397518017
|
0.00001
|
|
NM_206933.4(USH2A):c.553A>G (p.Met185Val)
|
rs770266757
|
0.00001
|
|
NM_206933.4(USH2A):c.6153T>A (p.Thr2051=)
|
rs754250829
|
0.00001
|
|
NM_206933.4(USH2A):c.652-9T>G
|
rs1231791432
|
0.00001
|
|
NM_206933.4(USH2A):c.6958-10A>G
|
rs727504213
|
0.00001
|
|
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe)
|
rs41315579
|
0.00001
|
|
NM_206933.4(USH2A):c.8098G>A (p.Val2700Ile)
|
rs778655083
|
0.00001
|
|
NM_206933.4(USH2A):c.8993C>G (p.Ser2998Cys)
|
rs559922535
|
0.00001
|
|
NM_206937.2(LIG4):c.1020A>G (p.Gln340=)
|
rs535025599
|
0.00001
|
|
NM_206937.2(LIG4):c.1236T>A (p.Asn412Lys)
|
rs755358293
|
0.00001
|
|
NM_206937.2(LIG4):c.1239A>G (p.Glu413=)
|
rs1342090676
|
0.00001
|
|
NM_206937.2(LIG4):c.1242A>C (p.Val414=)
|
rs150828164
|
0.00001
|
|
NM_206937.2(LIG4):c.1710T>C (p.Tyr570=)
|
rs763222026
|
0.00001
|
|
NM_206937.2(LIG4):c.394G>T (p.Val132Leu)
|
rs370586288
|
0.00001
|
|
NM_206937.2(LIG4):c.713T>C (p.Ile238Thr)
|
rs201289944
|
0.00001
|
|
NM_207346.3(TSEN54):c.1074G>A (p.Glu358=)
|
rs775864125
|
0.00001
|
|
NM_207346.3(TSEN54):c.1527C>T (p.Asp509=)
|
rs201415896
|
0.00001
|
|
NM_207361.6(FREM2):c.7177G>A (p.Ala2393Thr)
|
rs769767420
|
0.00001
|
|
NM_212482.4(FN1):c.3951C>T (p.Asp1317=)
|
rs763439987
|
0.00001
|
|
NM_212482.4(FN1):c.4141C>T (p.Pro1381Ser)
|
rs754336717
|
0.00001
|
|
NM_213599.3(ANO5):c.1800+5G>A
|
rs794727179
|
0.00001
|
|
NM_213599.3(ANO5):c.1801-9T>C
|
rs202034123
|
0.00001
|
|
NM_213599.3(ANO5):c.185A>G (p.Gln62Arg)
|
rs754497228
|
0.00001
|
|
NM_213599.3(ANO5):c.2139C>T (p.Thr713=)
|
rs767479331
|
0.00001
|
|
NM_213720.3(CHCHD10):c.214G>A (p.Ala72Thr)
|
rs542541060
|
0.00001
|
|
NR_003051.4(RMRP):n.86T>G
|
rs991322091
|
0.00001
|
|
GRCh37/hg19 10q25.3(chr10:116322646-116572153)x3
|
|
|
|
GRCh37/hg19 11p15.1(chr11:16914628-17199531)x4
|
|
|
|
GRCh37/hg19 13q12.12(chr13:23519916-24936848)x1
|
|
|
|
GRCh37/hg19 13q21.2-21.31(chr13:61660181-63785757)x3
|
|
|
|
GRCh37/hg19 15q26.3(chr15:100614375-100911698)x1
|
|
|
|
GRCh37/hg19 16p13.3(chr16:6294808-6394422)x1
|
|
|
|
GRCh37/hg19 18p11.32(chr18:517102-1331930)x3
|
|
|
|
GRCh37/hg19 1p33(chr1:49498351-50440974)x1
|
|
|
|
GRCh37/hg19 2q21.1(chr2:130166042-130784390)x3
|
|
|
|
GRCh37/hg19 4q22.1(chr4:92491756-93233588)x3
|
|
|
|
GRCh37/hg19 4q32.3(chr4:164801123-165481802)x3
|
|
|
|
GRCh37/hg19 7p21.1(chr7:16838232-17753807)x3
|
|
|
|
GRCh37/hg19 Xq21.31(chrX:87837389-88164567)x1
|
|
|
|
GRCh38/hg38 4q13.2-13.3(chr4:68852530-69850009)x3
|
|
|
|
GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3
|
|
|
|
NC_000009.11:g.(?_101470679)_(101611374_?)dup
|
|
|
|
NC_000023.11:g.101841670A>C
|
|
|
|
NM_000016.6(ACADM):c.624T>C (p.Asp208=)
|
rs886046523
|
|
|
NM_000018.4(ACADVL):c.1215C>T (p.Asp405=)
|
rs2071338251
|
|
|
NM_000018.4(ACADVL):c.1434+14T>A
|
rs202217537
|
|
|
NM_000018.4(ACADVL):c.1467T>G (p.Ser489Arg)
|
rs771117714
|
|
|
NM_000018.4(ACADVL):c.1533G>A (p.Arg511=)
|
rs886038214
|
|
|
NM_000018.4(ACADVL):c.1679-5del
|
rs1555528999
|
|
|
NM_000018.4(ACADVL):c.180G>C (p.Leu60=)
|
rs886053372
|
|
|
NM_000018.4(ACADVL):c.1881G>A (p.Gln627=)
|
rs931018661
|
|
|
NM_000018.4(ACADVL):c.477+17G>A
|
rs375076326
|
|
|
NM_000018.4(ACADVL):c.678C>A (p.Ala226=)
|
rs372114185
|
|
|
NM_000018.4(ACADVL):c.753-9C>T
|
rs1262931604
|
|
|
NM_000019.4(ACAT1):c.15G>C (p.Ala5=)
|
rs886047594
|
|
|
NM_000019.4(ACAT1):c.436-4G>C
|
rs3741050
|
|
|
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=)
|
rs1591367485
|
|
|
NM_000019.4(ACAT1):c.921A>G (p.Thr307=)
|
rs2077610591
|
|
|
NM_000019.4(ACAT1):c.941-13T>C
|
rs760991373
|
|
|
NM_000020.3(ACVRL1):c.466G>A (p.Glu156Lys)
|
|
|
|
NM_000022.4(ADA):c.445C>A (p.Arg149=)
|
rs121908733
|
|
|
NM_000022.4(ADA):c.708G>A (p.Leu236=)
|
rs757155433
|
|
|
NM_000022.4(ADA):c.825C>T (p.Asp275=)
|
rs778167423
|
|
|
NM_000023.4(SGCA):c.49G>A (p.Gly17Arg)
|
rs573792379
|
|
|
NM_000023.4(SGCA):c.675C>T (p.Gly225=)
|
rs773985328
|
|
|
NM_000023.4(SGCA):c.861G>A (p.Leu287=)
|
rs1555569293
|
|
|
NM_000026.4(ADSL):c.1102-6C>G
|
rs758666194
|
|
|
NM_000027.4(AGA):c.128-7dup
|
rs1736960600
|
|
|
NM_000027.4(AGA):c.34G>T (p.Val12Leu)
|
rs74626221
|
|
|
NM_000027.4(AGA):c.585T>C (p.His195=)
|
rs1736860088
|
|
|
NM_000030.3(AGXT):c.1065G>A (p.Thr355=)
|
rs143488099
|
|
|
NM_000030.3(AGXT):c.32C>A (p.Pro11His)
|
rs34116584
|
|
|
NM_000032.5(ALAS2):c.1003+4T>C
|
rs1057522963
|
|
|
NM_000032.5(ALAS2):c.1567C>T (p.His523Tyr)
|
rs199826743
|
|
|
NM_000032.5(ALAS2):c.1695G>C (p.Glu565Asp)
|
|
|
|
NM_000032.5(ALAS2):c.352G>A (p.Gly118Ser)
|
|
|
|
NM_000032.5(ALAS2):c.98T>C (p.Phe33Ser)
|
|
|
|
NM_000033.4(ABCD1):c.1053C>T (p.Ile351=)
|
rs1887821307
|
|
|
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=)
|
rs782250326
|
|
|
NM_000033.4(ABCD1):c.1428C>T (p.Cys476=)
|
rs141446687
|
|
|
NM_000033.4(ABCD1):c.1748T>C (p.Val583Ala)
|
|
|
|
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro)
|
rs201774661
|
|
|
NM_000033.4(ABCD1):c.208G>C (p.Val70Leu)
|
rs782701925
|
|
|
NM_000033.4(ABCD1):c.32G>C (p.Arg11Pro)
|
rs782122122
|
|
|
NM_000035.4(ALDOB):c.178C>A (p.Arg60=)
|
rs118204429
|
|
|
NM_000035.4(ALDOB):c.264C>A (p.Asp88Glu)
|
rs200585150
|
|
|
NM_000035.4(ALDOB):c.264C>T (p.Asp88=)
|
rs200585150
|
|
|
NM_000035.4(ALDOB):c.282C>T (p.Phe94=)
|
rs549682194
|
|
|
NM_000035.4(ALDOB):c.375T>C (p.Ile125=)
|
rs886063292
|
|
|
NM_000035.4(ALDOB):c.486C>G (p.Leu162=)
|
rs773334784
|
|
|
NM_000035.4(ALDOB):c.486C>T (p.Leu162=)
|
rs773334784
|
|
|
NM_000037.4(ANK1):c.2098-5T>C
|
rs2150613009
|
|
|
NM_000037.4(ANK1):c.3829G>A (p.Val1277Met)
|
rs148942046
|
|
|
NM_000037.4(ANK1):c.4974C>T (p.Asp1658=)
|
rs149859024
|
|
|
NM_000037.4(ANK1):c.965G>T (p.Arg322Leu)
|
rs183864227
|
|
|
NM_000038.6(APC):c.*210_*213del
|
rs763673039
|
|
|
NM_000038.6(APC):c.1318G>A (p.Ala440Thr)
|
rs1064793023
|
|
|
NM_000038.6(APC):c.1338C>A (p.Ile446=)
|
rs759703047
|
|
|
NM_000038.6(APC):c.15A>G (p.Ser5=)
|
rs1554067106
|
|
|
NM_000038.6(APC):c.1773C>G (p.Ala591=)
|
rs1580603391
|
|
|
NM_000038.6(APC):c.181G>A (p.Ala61Thr)
|
rs786201989
|
|
|
NM_000038.6(APC):c.1958+1_1958+4dup
|
rs1060503356
|
|
|
NM_000038.6(APC):c.2094A>G (p.Leu698=)
|
rs1426881729
|
|
|
NM_000038.6(APC):c.21T>C (p.Asp7=)
|
rs2149737434
|
|
|
NM_000038.6(APC):c.220+4G>A
|
rs973491846
|
|
|
NM_000038.6(APC):c.221-5T>C
|
rs1057524155
|
|
|
NM_000038.6(APC):c.235A>G (p.Ser79Gly)
|
rs1001856924
|
|
|
NM_000038.6(APC):c.2547T>C (p.Asp849=)
|
rs766086010
|
|
|
NM_000038.6(APC):c.2587_2589del (p.Tyr863del)
|
rs1554084281
|
|
|
NM_000038.6(APC):c.2658G>T (p.Gln886His)
|
rs587780593
|
|
|
NM_000038.6(APC):c.2719G>A (p.Gly907Arg)
|
rs771458366
|
|
|
NM_000038.6(APC):c.2834_2835delinsTT (p.Arg945Ile)
|
rs786204162
|
|
|
NM_000038.6(APC):c.3007G>A (p.Asp1003Asn)
|
rs564314108
|
|
|
NM_000038.6(APC):c.304T>C (p.Ser102Pro)
|
rs753302494
|
|
|
NM_000038.6(APC):c.3377G>A (p.Ser1126Asn)
|
rs767339739
|
|
|
NM_000038.6(APC):c.3445GAA[2] (p.Glu1151del)
|
rs761327787
|
|
|
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del)
|
rs386833391
|
|
|
NM_000038.6(APC):c.3691C>G (p.Leu1231Val)
|
rs573020080
|
|
|
NM_000038.6(APC):c.3932T>G (p.Ile1311Ser)
|
rs876659190
|
|
|
NM_000038.6(APC):c.4018_4020dup (p.Ser1341dup)
|
rs864622376
|
|
|
NM_000038.6(APC):c.420G>C (p.Glu140Asp)
|
rs202161017
|
|
|
NM_000038.6(APC):c.4212C>T (p.Ser1404=)
|
rs144655979
|
|
|
NM_000038.6(APC):c.423-4del
|
rs730881230
|
|
|
NM_000038.6(APC):c.4332A>T (p.Gln1444His)
|
rs748342378
|
|
|
NM_000038.6(APC):c.4349G>A (p.Arg1450Gln)
|
rs587782678
|
|
|
NM_000038.6(APC):c.4413A>G (p.Ala1471=)
|
rs964029262
|
|
|
NM_000038.6(APC):c.4441G>A (p.Val1481Ile)
|
rs587782349
|
|
|
NM_000038.6(APC):c.4487C>G (p.Thr1496Ser)
|
rs2229996
|
|
|
NM_000038.6(APC):c.4702GAT[3] (p.Asp1571del)
|
rs587782888
|
|
|
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly)
|
rs72541813
|
|
|
NM_000038.6(APC):c.4765C>T (p.Arg1589Cys)
|
rs72541813
|
|
|
NM_000038.6(APC):c.4783G>T (p.Ala1595Ser)
|
rs749782426
|
|
|
NM_000038.6(APC):c.5266TCT[2] (p.Ser1758del)
|
rs780061589
|
|
|
NM_000038.6(APC):c.532-14_532-12del
|
rs765893314
|
|
|
NM_000038.6(APC):c.5378C>G (p.Ala1793Gly)
|
rs764203580
|
|
|
NM_000038.6(APC):c.5421CAA[1] (p.Asn1808del)
|
rs587782002
|
|
|
NM_000038.6(APC):c.5465T>G (p.Val1822Gly)
|
rs459552
|
|
|
NM_000038.6(APC):c.5496T>C (p.Asp1832=)
|
rs1561600562
|
|
|
NM_000038.6(APC):c.5501_5506del (p.Val1834_Arg1835del)
|
rs587778029
|
|
|
NM_000038.6(APC):c.5840C>G (p.Thr1947Ser)
|
rs575724078
|
|
|
NM_000038.6(APC):c.5879_5880delinsTA (p.Pro1960Leu)
|
rs587779801
|
|
|
NM_000038.6(APC):c.5894A>G (p.His1965Arg)
|
rs773776516
|
|
|
NM_000038.6(APC):c.5939A>G (p.Asn1980Ser)
|
|
|
|
NM_000038.6(APC):c.6213A>G (p.Ile2071Met)
|
rs876660358
|
|
|
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup)
|
rs587780602
|
|
|
NM_000038.6(APC):c.6493C>A (p.Pro2165Thr)
|
rs775501375
|
|
|
NM_000038.6(APC):c.652A>G (p.Ile218Val)
|
rs781561221
|
|
|
NM_000038.6(APC):c.6907G>A (p.Gly2303Arg)
|
rs544549596
|
|
|
NM_000038.6(APC):c.6963A>G (p.Ile2321Met)
|
rs1561611578
|
|
|
NM_000038.6(APC):c.7079G>A (p.Gly2360Asp)
|
rs750960862
|
|
|
NM_000038.6(APC):c.7148G>T (p.Gly2383Val)
|
rs754320004
|
|
|
NM_000038.6(APC):c.715G>C (p.Ala239Pro)
|
rs777760565
|
|
|
NM_000038.6(APC):c.719C>G (p.Thr240Arg)
|
rs751648064
|
|
|
NM_000038.6(APC):c.7219G>A (p.Gly2407Ser)
|
rs1561613753
|
|
|
NM_000038.6(APC):c.730-3C>T
|
rs786203125
|
|
|
NM_000038.6(APC):c.730-5A>G
|
rs1561514828
|
|
|
NM_000038.6(APC):c.7391C>G (p.Ser2464Cys)
|
rs766473931
|
|
|
NM_000038.6(APC):c.7543A>G (p.Ile2515Val)
|
rs554356011
|
|
|
NM_000038.6(APC):c.768T>G (p.Asp256Glu)
|
rs764268036
|
|
|
NM_000038.6(APC):c.7696A>C (p.Arg2566=)
|
rs1060504883
|
|
|
NM_000038.6(APC):c.777G>T (p.Arg259=)
|
rs147704593
|
|
|
NM_000038.6(APC):c.7832C>T (p.Thr2611Ile)
|
rs587778037
|
|
|
NM_000038.6(APC):c.7858T>A (p.Phe2620Ile)
|
rs587781816
|
|
|
NM_000038.6(APC):c.7942G>A (p.Ala2648Thr)
|
rs1195417407
|
|
|
NM_000038.6(APC):c.8411A>G (p.Gln2804Arg)
|
rs1475247315
|
|
|
NM_000038.6(APC):c.841A>G (p.Thr281Ala)
|
rs769727966
|
|
|
NM_000038.6(APC):c.8438C>A (p.Thr2813Lys)
|
rs1060503275
|
|
|
NM_000038.6(APC):c.895T>A (p.Ser299Thr)
|
rs763630775
|
|
|
NM_000038.6(APC):c.933+5C>T
|
rs573528468
|
|
|
NM_000039.3(APOA1):c.388AAG[1] (p.Lys131del)
|
rs532489785
|
|
|
NM_000039.3(APOA1):c.576C>G (p.Asp192Glu)
|
|
|
|
NM_000039.3(APOA1):c.662C>G (p.Thr221Ser)
|
|
|
|
NM_000040.3(APOC3):c.56-15C>A
|
|
|
|
NM_000043.6(FAS):c.432C>T (p.Asp144=)
|
rs574338716
|
|
|
NM_000045.4(ARG1):c.745G>C (p.Val249Leu)
|
rs182650447
|
|
|
NM_000045.4(ARG1):c.804G>C (p.Gly268=)
|
rs747275658
|
|
|
NM_000045.4(ARG1):c.936C>T (p.His312=)
|
rs776119677
|
|
|
NM_000046.5(ARSB):c.1214-15A>T
|
rs1353542088
|
|
|
NM_000046.5(ARSB):c.666C>T (p.Leu222=)
|
rs1752122294
|
|
|
NM_000046.5(ARSB):c.951A>G (p.Arg317=)
|
rs1318270777
|
|
|
NM_000048.4(ASL):c.1095C>T (p.Ser365=)
|
rs749559501
|
|
|
NM_000048.4(ASL):c.1395G>A (p.Ter465=)
|
rs1339615185
|
|
|
NM_000048.4(ASL):c.402C>A (p.Gly134=)
|
rs1308519514
|
|
|
NM_000048.4(ASL):c.486G>A (p.Gln162=)
|
rs1786669549
|
|
|
NM_000048.4(ASL):c.99C>G (p.His33Gln)
|
rs142077823
|
|
|
NM_000049.4(ASPA):c.723T>C (p.Ala241=)
|
rs2073877008
|
|
|
NM_000051.4(ATM):c.1065+5A>T
|
rs1204741025
|
|
|
NM_000051.4(ATM):c.118A>G (p.Ile40Val)
|
rs1064796002
|
|
|
NM_000051.4(ATM):c.11T>C (p.Val4Ala)
|
rs1555053873
|
|
|
NM_000051.4(ATM):c.1227T>C (p.Leu409=)
|
rs1060504273
|
|
|
NM_000051.4(ATM):c.1243A>T (p.Ile415Phe)
|
rs1591522756
|
|
|
NM_000051.4(ATM):c.1273G>T (p.Ala425Ser)
|
rs769214234
|
|
|
NM_000051.4(ATM):c.1434A>G (p.Ser478=)
|
rs2135322636
|
|
|
NM_000051.4(ATM):c.156A>C (p.Gly52=)
|
rs876660725
|
|
|
NM_000051.4(ATM):c.1584T>C (p.Thr528=)
|
rs864622408
|
|
|
NM_000051.4(ATM):c.1677A>G (p.Ile559Met)
|
rs1190611996
|
|
|
NM_000051.4(ATM):c.1800C>T (p.His600=)
|
rs750715942
|
|
|
NM_000051.4(ATM):c.186A>G (p.Arg62=)
|
rs876658224
|
|
|
NM_000051.4(ATM):c.1899-7C>A
|
rs1060501584
|
|
|
NM_000051.4(ATM):c.1910A>G (p.Gln637Arg)
|
rs1565389611
|
|
|
NM_000051.4(ATM):c.1921GAA[1] (p.Glu642del)
|
rs876659575
|
|
|
NM_000051.4(ATM):c.2112T>C (p.Asn704=)
|
rs2080317012
|
|
|
NM_000051.4(ATM):c.2125-3A>C
|
rs1565394396
|
|
|
NM_000051.4(ATM):c.2125-4T>C
|
rs1064795623
|
|
|
NM_000051.4(ATM):c.2125-7_2125-3del
|
rs1060504272
|
|
|
NM_000051.4(ATM):c.2127T>G (p.Ile709Met)
|
rs56252953
|
|
|
NM_000051.4(ATM):c.2158C>A (p.Arg720Ser)
|
rs565622131
|
|
|
NM_000051.4(ATM):c.2194A>G (p.Met732Val)
|
rs1415360560
|
|
|
NM_000051.4(ATM):c.2251-14T>A
|
rs751677125
|
|
|
NM_000051.4(ATM):c.2321G>T (p.Gly774Val)
|
rs1555075727
|
|
|
NM_000051.4(ATM):c.2376+3A>G
|
rs758083563
|
|
|
NM_000051.4(ATM):c.2377-6T>A
|
rs876660963
|
|
|
NM_000051.4(ATM):c.2467-8C>G
|
rs1425701157
|
|
|
NM_000051.4(ATM):c.2495G>T (p.Arg832Leu)
|
rs199875915
|
|
|
NM_000051.4(ATM):c.2567A>G (p.Asn856Ser)
|
rs1555082253
|
|
|
NM_000051.4(ATM):c.2723T>C (p.Val908Ala)
|
rs754738085
|
|
|
NM_000051.4(ATM):c.2804C>G (p.Thr935Arg)
|
rs3218708
|
|
|
NM_000051.4(ATM):c.2805G>C (p.Thr935=)
|
rs55934812
|
|
|
NM_000051.4(ATM):c.2838+9C>T
|
rs370160823
|
|
|
NM_000051.4(ATM):c.2839-4T>C
|
rs1057522619
|
|
|
NM_000051.4(ATM):c.2845A>G (p.Met949Val)
|
rs1348704826
|
|
|
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly)
|
rs587778069
|
|
|
NM_000051.4(ATM):c.2908C>T (p.Leu970=)
|
rs1060504260
|
|
|
NM_000051.4(ATM):c.2922-4A>G
|
rs1555084924
|
|
|
NM_000051.4(ATM):c.2937G>T (p.Leu979Phe)
|
rs1166904824
|
|
|
NM_000051.4(ATM):c.2945G>A (p.Arg982His)
|
rs749471737
|
|
|
NM_000051.4(ATM):c.2952A>G (p.Gln984=)
|
rs1476499901
|
|
|
NM_000051.4(ATM):c.2989G>A (p.Val997Ile)
|
rs1487902875
|
|
|
NM_000051.4(ATM):c.3064A>T (p.Ile1022Phe)
|
rs786202470
|
|
|
NM_000051.4(ATM):c.3085A>T (p.Thr1029Ser)
|
rs730881355
|
|
|
NM_000051.4(ATM):c.3154-4G>A
|
rs199543313
|
|
|
NM_000051.4(ATM):c.3258C>T (p.Arg1086=)
|
rs773277362
|
|
|
NM_000051.4(ATM):c.3284+8dup
|
rs886047611
|
|
|
NM_000051.4(ATM):c.3285-5T>C
|
rs876659715
|
|
|
NM_000051.4(ATM):c.332-7G>T
|
rs1591474291
|
|
|
NM_000051.4(ATM):c.3341A>G (p.Lys1114Arg)
|
rs777705500
|
|
|
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala)
|
rs572564322
|
|
|
NM_000051.4(ATM):c.3400A>G (p.Met1134Val)
|
rs1591632583
|
|
|
NM_000051.4(ATM):c.3403-3A>C
|
rs374866638
|
|
|
NM_000051.4(ATM):c.3403-4T>C
|
rs1591636158
|
|
|
NM_000051.4(ATM):c.3403-8_3403-4del
|
rs1555091114
|
|
|
NM_000051.4(ATM):c.3447T>C (p.Asn1149=)
|
rs763473729
|
|
|
NM_000051.4(ATM):c.3499A>G (p.Ile1167Val)
|
rs1222634243
|
|
|
NM_000051.4(ATM):c.3691T>C (p.Leu1231=)
|
rs1210990672
|
|
|
NM_000051.4(ATM):c.3746+4A>C
|
rs1555092593
|
|
|
NM_000051.4(ATM):c.3747-10C>G
|
rs775274473
|
|
|
NM_000051.4(ATM):c.398A>T (p.Asn133Ile)
|
rs730881330
|
|
|
NM_000051.4(ATM):c.3993+4T>C
|
rs2082390512
|
|
|
NM_000051.4(ATM):c.3994-11_3994-4del
|
rs1060501665
|
|
|
NM_000051.4(ATM):c.3994-12G>T
|
rs1057520398
|
|
|
NM_000051.4(ATM):c.3994-9C>T
|
rs767111803
|
|
|
NM_000051.4(ATM):c.4299T>C (p.Tyr1433=)
|
rs886047612
|
|
|
NM_000051.4(ATM):c.4436+3A>G
|
rs2082686950
|
|
|
NM_000051.4(ATM):c.4456G>C (p.Val1486Leu)
|
rs786203352
|
|
|
NM_000051.4(ATM):c.4576C>T (p.Pro1526Ser)
|
rs748898098
|
|
|
NM_000051.4(ATM):c.4777-10dup
|
rs1398289633
|
|
|
NM_000051.4(ATM):c.4797A>C (p.Ser1599=)
|
rs1371876868
|
|
|
NM_000051.4(ATM):c.489G>A (p.Gln163=)
|
rs1057523087
|
|
|
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly)
|
rs763457172
|
|
|
NM_000051.4(ATM):c.496+4T>G
|
rs587781375
|
|
|
NM_000051.4(ATM):c.5005+15T>A
|
rs377355762
|
|
|
NM_000051.4(ATM):c.5178-11G>A
|
rs200876654
|
|
|
NM_000051.4(ATM):c.5320-5T>C
|
rs1555106308
|
|
|
NM_000051.4(ATM):c.5354C>A (p.Pro1785His)
|
rs1555106368
|
|
|
NM_000051.4(ATM):c.5373T>C (p.Asp1791=)
|
rs2135928197
|
|
|
NM_000051.4(ATM):c.5456C>T (p.Thr1819Ile)
|
rs760060843
|
|
|
NM_000051.4(ATM):c.5475A>G (p.Gln1825=)
|
rs1555106560
|
|
|
NM_000051.4(ATM):c.5596G>A (p.Val1866Ile)
|
rs1468995507
|
|
|
NM_000051.4(ATM):c.5650A>G (p.Thr1884Ala)
|
rs1555107562
|
|
|
NM_000051.4(ATM):c.5675-4T>A
|
rs56075338
|
|
|
NM_000051.4(ATM):c.5763A>G (p.Arg1921=)
|
rs1057523784
|
|
|
NM_000051.4(ATM):c.5766TTC[1] (p.Ser1924del)
|
rs866749094
|
|
|
NM_000051.4(ATM):c.5897G>A (p.Ser1966Asn)
|
rs1555110520
|
|
|
NM_000051.4(ATM):c.5917A>C (p.Arg1973=)
|
rs786202089
|
|
|
NM_000051.4(ATM):c.5926G>A (p.Ala1976Thr)
|
rs2084241683
|
|
|
NM_000051.4(ATM):c.6095+5del
|
rs1555113628
|
|
|
NM_000051.4(ATM):c.6095+6T>C
|
rs1057522992
|
|
|
NM_000051.4(ATM):c.6338C>G (p.Thr2113Ser)
|
rs573290117
|
|
|
NM_000051.4(ATM):c.6338C>T (p.Thr2113Ile)
|
|
|
|
NM_000051.4(ATM):c.6453-15C>T
|
rs763296454
|
|
|
NM_000051.4(ATM):c.6573-11G>A
|
rs375599653
|
|
|
NM_000051.4(ATM):c.6891A>G (p.Gln2297=)
|
rs773545588
|
|
|
NM_000051.4(ATM):c.6975+13del
|
rs763287238
|
|
|
NM_000051.4(ATM):c.6975G>A (p.Ala2325=)
|
rs556778314
|
|
|
NM_000051.4(ATM):c.6987C>G (p.Ser2329Arg)
|
rs1591142078
|
|
|
NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys)
|
rs150503164
|
|
|
NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile)
|
rs150503164
|
|
|
NM_000051.4(ATM):c.7089+5G>A
|
rs1351209504
|
|
|
NM_000051.4(ATM):c.7092A>G (p.Ala2364=)
|
rs1591150359
|
|
|
NM_000051.4(ATM):c.720C>T (p.Leu240=)
|
rs1254593530
|
|
|
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser)
|
rs786203311
|
|
|
NM_000051.4(ATM):c.7370A>C (p.Glu2457Ala)
|
rs778482902
|
|
|
NM_000051.4(ATM):c.7500C>T (p.Val2500=)
|
rs1060504286
|
|
|
NM_000051.4(ATM):c.7516-9del
|
rs573494809
|
|
|
NM_000051.4(ATM):c.7570G>T (p.Ala2524Ser)
|
rs769142993
|
|
|
NM_000051.4(ATM):c.7629+12_7629+15del
|
rs1555124156
|
|
|
NM_000051.4(ATM):c.7819T>C (p.Cys2607Arg)
|
rs1459650575
|
|
|
NM_000051.4(ATM):c.8010+5T>G
|
rs56256497
|
|
|
NM_000051.4(ATM):c.8011-6T>G
|
rs762092284
|
|
|
NM_000051.4(ATM):c.8211A>T (p.Thr2737=)
|
rs876660946
|
|
|
NM_000051.4(ATM):c.8268+5C>T
|
rs1565544035
|
|
|
NM_000051.4(ATM):c.8269-10_8269-9del
|
rs587780641
|
|
|
NM_000051.4(ATM):c.8334A>G (p.Glu2778=)
|
|
|
|
NM_000051.4(ATM):c.8353G>A (p.Asp2785Asn)
|
rs587782417
|
|
|
NM_000051.4(ATM):c.8419-7_8419-4del
|
rs730881306
|
|
|
NM_000051.4(ATM):c.8419-8A>G
|
rs567215034
|
|
|
NM_000051.4(ATM):c.846A>T (p.Leu282Phe)
|
rs754008850
|
|
|
NM_000051.4(ATM):c.8556T>C (p.Tyr2852=)
|
rs779394254
|
|
|
NM_000051.4(ATM):c.8631G>A (p.Leu2877=)
|
rs1064794840
|
|
|
NM_000051.4(ATM):c.8763G>A (p.Thr2921=)
|
rs781528244
|
|
|
NM_000051.4(ATM):c.8787-6C>T
|
rs1591313765
|
|
|
NM_000051.4(ATM):c.8850+5A>C
|
rs1057522186
|
|
|
NM_000051.4(ATM):c.8850+5dup
|
rs1400626849
|
|
|
NM_000051.4(ATM):c.8851-10C>T
|
rs1057521676
|
|
|
NM_000051.4(ATM):c.8987+5G>C
|
rs876660570
|
|
|
NM_000051.4(ATM):c.901+6A>C
|
rs1555067357
|
|
|
NM_000051.4(ATM):c.928A>G (p.Ser310Gly)
|
rs745773225
|
|
|
NM_000052.7(ATP7A):c.121-2del
|
rs1287511385
|
|
|
NM_000052.7(ATP7A):c.1618C>G (p.Pro540Ala)
|
|
|
|
NM_000052.7(ATP7A):c.1856T>C (p.Ile619Thr)
|
rs1569549841
|
|
|
NM_000052.7(ATP7A):c.1857C>G (p.Ile619Met)
|
|
|
|
NM_000052.7(ATP7A):c.2131G>C (p.Val711Leu)
|
rs782268170
|
|
|
NM_000052.7(ATP7A):c.2251G>A (p.Val751Met)
|
|
|
|
NM_000052.7(ATP7A):c.2464A>G (p.Ile822Val)
|
|
|
|
NM_000052.7(ATP7A):c.281C>T (p.Ala94Val)
|
|
|
|
NM_000052.7(ATP7A):c.4267C>T (p.Arg1423Trp)
|
rs149079962
|
|
|
NM_000053.4(ATP7B):c.-123_-119dupCGCCG
|
rs148013251
|
|
|
NM_000053.4(ATP7B):c.1002T>C (p.Ser334=)
|
rs1951990469
|
|
|
NM_000053.4(ATP7B):c.1092C>G (p.Ala364=)
|
rs1482077950
|
|
|
NM_000053.4(ATP7B):c.1401T>G (p.Pro467=)
|
rs529527733
|
|
|
NM_000053.4(ATP7B):c.1869+18_1869+20del
|
rs758773114
|
|
|
NM_000053.4(ATP7B):c.1965G>A (p.Leu655=)
|
rs574041847
|
|
|
NM_000053.4(ATP7B):c.2124C>A (p.Leu708=)
|
rs779988850
|
|
|
NM_000053.4(ATP7B):c.2241C>A (p.Ile747=)
|
rs757991922
|
|
|
NM_000053.4(ATP7B):c.2286A>T (p.Thr762=)
|
rs750477816
|
|
|
NM_000053.4(ATP7B):c.2356-16del
|
rs1257703465
|
|
|
NM_000053.4(ATP7B):c.2356-9A>G
|
rs1339073174
|
|
|
NM_000053.4(ATP7B):c.2447+8_2447+9insAA
|
rs746283578
|
|
|
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=)
|
rs746358240
|
|
|
NM_000053.4(ATP7B):c.2997C>T (p.Thr999=)
|
rs199581971
|
|
|
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly)
|
rs587783315
|
|
|
NM_000053.4(ATP7B):c.360C>T (p.Gly120=)
|
rs1952028232
|
|
|
NM_000053.4(ATP7B):c.3624G>T (p.Thr1208=)
|
rs377267217
|
|
|
NM_000053.4(ATP7B):c.3756C>T (p.Val1252=)
|
rs1395442643
|
|
|
NM_000053.4(ATP7B):c.406A>G (p.Arg136Gly)
|
rs557577836
|
|
|
NM_000053.4(ATP7B):c.4185G>C (p.Leu1395=)
|
rs368801566
|
|
|
NM_000053.4(ATP7B):c.690T>C (p.Thr230=)
|
rs1033565003
|
|
|
NM_000054.7(AVPR2):c.191GGCGGGGCC[1] (p.64RRG[1])
|
rs782292545
|
|
|
NM_000057.4(BLM):c.*6G>T
|
|
|
|
NM_000057.4(BLM):c.205G>A (p.Glu69Lys)
|
rs746195311
|
|
|
NM_000057.4(BLM):c.2141C>G (p.Ser714Cys)
|
|
|
|
NM_000057.4(BLM):c.2205A>G (p.Thr735=)
|
rs757134420
|
|
|
NM_000057.4(BLM):c.2583T>C (p.Asn861=)
|
rs1896651230
|
|
|
NM_000057.4(BLM):c.2824-7A>G
|
rs374616797
|
|
|
NM_000057.4(BLM):c.3039T>C (p.His1013=)
|
rs747406569
|
|
|
NM_000057.4(BLM):c.3200G>A (p.Cys1067Tyr)
|
rs587779885
|
|
|
NM_000057.4(BLM):c.3340C>T (p.Leu1114=)
|
rs1567060305
|
|
|
NM_000057.4(BLM):c.3416G>C (p.Arg1139Pro)
|
rs771776126
|
|
|
NM_000057.4(BLM):c.3751+10C>G
|
rs199685140
|
|
|
NM_000057.4(BLM):c.3876T>C (p.Ala1292=)
|
rs1596273405
|
|
|
NM_000057.4(BLM):c.387_389del (p.Lys130del)
|
rs587778105
|
|
|
NM_000057.4(BLM):c.4251A>C (p.Ser1417=)
|
rs886051553
|
|
|
NM_000057.4(BLM):c.955C>T (p.Leu319Phe)
|
rs1567036793
|
|
|
NM_000057.4(BLM):c.99-9_99-7del
|
rs1229333064
|
|
|
NM_000059.3(BRCA2):c.7241_7242inv (p.Ser2414Leu)
|
|
|
|
NM_000059.4(BRCA2):c.*8C>T
|
rs747134610
|
|
|
NM_000059.4(BRCA2):c.-39-12_-39-10del
|
rs276174798
|
|
|
NM_000059.4(BRCA2):c.-39-5del
|
rs276174800
|
|
|
NM_000059.4(BRCA2):c.-51C>T
|
rs1057521841
|
|
|
NM_000059.4(BRCA2):c.1000C>T (p.His334Tyr)
|
rs1593891725
|
|
|
NM_000059.4(BRCA2):c.1001A>G (p.His334Arg)
|
rs587782016
|
|
|
NM_000059.4(BRCA2):c.10024G>T (p.Glu3342Ter)
|
rs28897761
|
|
|
NM_000059.4(BRCA2):c.1004A>G (p.Glu335Gly)
|
rs1566222581
|
|
|
NM_000059.4(BRCA2):c.10082A>C (p.Gln3361Pro)
|
rs751250810
|
|
|
NM_000059.4(BRCA2):c.10094_10095insGAATTATATC (p.Ser3366fs)
|
rs1064792995
|
|
|
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs)
|
rs276174803
|
|
|
NM_000059.4(BRCA2):c.10102T>C (p.Ser3368Pro)
|
rs786205482
|
|
|
NM_000059.4(BRCA2):c.10120A>G (p.Thr3374Ala)
|
rs80358395
|
|
|
NM_000059.4(BRCA2):c.1012G>T (p.Ala338Ser)
|
rs80358396
|
|
|
NM_000059.4(BRCA2):c.1015G>A (p.Asp339Asn)
|
rs1555281693
|
|
|
NM_000059.4(BRCA2):c.10160C>G (p.Thr3387Ser)
|
rs863224584
|
|
|
NM_000059.4(BRCA2):c.10162A>G (p.Thr3388Ala)
|
rs431825278
|
|
|
NM_000059.4(BRCA2):c.10163C>A (p.Thr3388Lys)
|
rs1431008455
|
|
|
NM_000059.4(BRCA2):c.10166C>T (p.Ser3389Phe)
|
rs431825279
|
|
|
NM_000059.4(BRCA2):c.1016A>G (p.Asp339Gly)
|
rs1244056899
|
|
|
NM_000059.4(BRCA2):c.10171A>G (p.Ile3391Val)
|
rs778147500
|
|
|
NM_000059.4(BRCA2):c.10176del (p.Glu3393fs)
|
rs80359258
|
|
|
NM_000059.4(BRCA2):c.10187G>A (p.Ser3396Asn)
|
rs889208749
|
|
|
NM_000059.4(BRCA2):c.10189T>A (p.Ser3397Thr)
|
rs876660044
|
|
|
NM_000059.4(BRCA2):c.10220A>G (p.Asn3407Ser)
|
rs80358401
|
|
|
NM_000059.4(BRCA2):c.1022G>C (p.Cys341Ser)
|
rs80358403
|
|
|
NM_000059.4(BRCA2):c.1022G>T (p.Cys341Phe)
|
rs80358403
|
|
|
NM_000059.4(BRCA2):c.10230C>A (p.Asp3410Glu)
|
rs80358404
|
|
|
NM_000059.4(BRCA2):c.10250A>G (p.Tyr3417Cys)
|
rs730881600
|
|
|
NM_000059.4(BRCA2):c.10251T>C (p.Tyr3417=)
|
rs80359779
|
|
|
NM_000059.4(BRCA2):c.10253_10256del (p.Ile3418fs)
|
rs80359259
|
|
|
NM_000059.4(BRCA2):c.10254C>G (p.Ile3418Met)
|
rs1566261647
|
|
|
NM_000059.4(BRCA2):c.1028A>G (p.Lys343Arg)
|
|
|
|
NM_000059.4(BRCA2):c.1031C>G (p.Ser344Cys)
|
rs1593891776
|
|
|
NM_000059.4(BRCA2):c.1033A>G (p.Lys345Glu)
|
rs80358406
|
|
|
NM_000059.4(BRCA2):c.1034A>G (p.Lys345Arg)
|
rs1555281704
|
|
|
NM_000059.4(BRCA2):c.1037A>T (p.Asn346Ile)
|
rs786202042
|
|
|
NM_000059.4(BRCA2):c.1039C>A (p.Gln347Lys)
|
rs794726967
|
|
|
NM_000059.4(BRCA2):c.1045A>G (p.Lys349Glu)
|
rs2072403180
|
|
|
NM_000059.4(BRCA2):c.1046A>C (p.Lys349Thr)
|
rs587782140
|
|
|
NM_000059.4(BRCA2):c.1051A>G (p.Lys351Glu)
|
rs1003779807
|
|
|
NM_000059.4(BRCA2):c.1052A>T (p.Lys351Ile)
|
rs1555281710
|
|
|
NM_000059.4(BRCA2):c.1056C>T (p.Tyr352=)
|
rs786201858
|
|
|
NM_000059.4(BRCA2):c.1057T>C (p.Ser353Pro)
|
|
|
|
NM_000059.4(BRCA2):c.1058C>T (p.Ser353Leu)
|
rs769368098
|
|
|
NM_000059.4(BRCA2):c.1060T>C (p.Phe354Leu)
|
rs1318579197
|
|
|
NM_000059.4(BRCA2):c.1063G>A (p.Val355Ile)
|
rs2072403612
|
|
|
NM_000059.4(BRCA2):c.1064T>G (p.Val355Gly)
|
|
|
|
NM_000059.4(BRCA2):c.1067C>T (p.Ser356Phe)
|
rs876660796
|
|
|
NM_000059.4(BRCA2):c.1069G>A (p.Glu357Lys)
|
rs2072403764
|
|
|
NM_000059.4(BRCA2):c.1075G>A (p.Glu359Lys)
|
rs1555281730
|
|
|
NM_000059.4(BRCA2):c.1077A>G (p.Glu359=)
|
rs1135401832
|
|
|
NM_000059.4(BRCA2):c.1077A>T (p.Glu359Asp)
|
|
|
|
NM_000059.4(BRCA2):c.1085A>G (p.Asp362Gly)
|
rs561004600
|
|
|
NM_000059.4(BRCA2):c.1087A>G (p.Thr363Ala)
|
rs1060502440
|
|
|
NM_000059.4(BRCA2):c.1102T>C (p.Ser368Pro)
|
rs1555281736
|
|
|
NM_000059.4(BRCA2):c.1106A>C (p.Asn369Thr)
|
rs876660966
|
|
|
NM_000059.4(BRCA2):c.1107T>G (p.Asn369Lys)
|
rs876659793
|
|
|
NM_000059.4(BRCA2):c.1114A>G (p.Asn372Asp)
|
rs144848
|
|
|
NM_000059.4(BRCA2):c.1115A>G (p.Asn372Ser)
|
rs876658943
|
|
|
NM_000059.4(BRCA2):c.1117C>G (p.Gln373Glu)
|
|
|
|
NM_000059.4(BRCA2):c.1118A>C (p.Gln373Pro)
|
rs2137467818
|
|
|
NM_000059.4(BRCA2):c.1124C>G (p.Pro375Arg)
|
rs80358409
|
|
|
NM_000059.4(BRCA2):c.1127T>G (p.Phe376Cys)
|
rs80358410
|
|
|
NM_000059.4(BRCA2):c.1129G>A (p.Glu377Lys)
|
rs876658625
|
|
|
NM_000059.4(BRCA2):c.1134T>A (p.Ser378Arg)
|
rs1555281748
|
|
|
NM_000059.4(BRCA2):c.1139G>C (p.Ser380Thr)
|
|
|
|
NM_000059.4(BRCA2):c.1144A>G (p.Lys382Glu)
|
|
|
|
NM_000059.4(BRCA2):c.1146A>T (p.Lys382Asn)
|
rs431825280
|
|
|
NM_000059.4(BRCA2):c.1148T>G (p.Ile383Ser)
|
rs2072405281
|
|
|
NM_000059.4(BRCA2):c.1149C>A (p.Ile383=)
|
rs80359780
|
|
|
NM_000059.4(BRCA2):c.1153A>G (p.Lys385Glu)
|
rs80358411
|
|
|
NM_000059.4(BRCA2):c.1154A>G (p.Lys385Arg)
|
rs1593892070
|
|
|
NM_000059.4(BRCA2):c.1156G>A (p.Glu386Lys)
|
rs1593892076
|
|
|
NM_000059.4(BRCA2):c.1159G>A (p.Val387Ile)
|
rs869320791
|
|
|
NM_000059.4(BRCA2):c.1160T>C (p.Val387Ala)
|
rs373945846
|
|
|
NM_000059.4(BRCA2):c.1160T>G (p.Val387Gly)
|
rs373945846
|
|
|
NM_000059.4(BRCA2):c.1162G>T (p.Val388Leu)
|
rs876660239
|
|
|
NM_000059.4(BRCA2):c.1166C>T (p.Pro389Leu)
|
rs397507263
|
|
|
NM_000059.4(BRCA2):c.1171T>G (p.Leu391Val)
|
|
|
|
NM_000059.4(BRCA2):c.1183T>G (p.Trp395Gly)
|
rs80358412
|
|
|
NM_000059.4(BRCA2):c.1187C>T (p.Ser396Phe)
|
|
|
|
NM_000059.4(BRCA2):c.1188T>G (p.Ser396=)
|
rs80359781
|
|
|
NM_000059.4(BRCA2):c.1196C>A (p.Thr399Asn)
|
rs1555281772
|
|
|
NM_000059.4(BRCA2):c.1198C>G (p.Leu400Val)
|
rs1413065373
|
|
|
NM_000059.4(BRCA2):c.1198C>T (p.Leu400Phe)
|
|
|
|
NM_000059.4(BRCA2):c.1199T>C (p.Leu400Pro)
|
rs397507264
|
|
|
NM_000059.4(BRCA2):c.1205G>A (p.Gly402Asp)
|
rs1566223012
|
|
|
NM_000059.4(BRCA2):c.1211A>G (p.Asn404Ser)
|
rs80358414
|
|
|
NM_000059.4(BRCA2):c.1211A>T (p.Asn404Ile)
|
rs80358414
|
|
|
NM_000059.4(BRCA2):c.1216_1219delinsACCG (p.Ala406_Gln407delinsThrGlu)
|
rs886037742
|
|
|
NM_000059.4(BRCA2):c.1220A>G (p.Gln407Arg)
|
rs1593892264
|
|
|
NM_000059.4(BRCA2):c.1221G>C (p.Gln407His)
|
rs1555281779
|
|
|
NM_000059.4(BRCA2):c.1221G>T (p.Gln407His)
|
rs1555281779
|
|
|
NM_000059.4(BRCA2):c.1222A>G (p.Met408Val)
|
rs1566223036
|
|
|
NM_000059.4(BRCA2):c.1223T>C (p.Met408Thr)
|
rs1057517562
|
|
|
NM_000059.4(BRCA2):c.1224G>C (p.Met408Ile)
|
rs1593892275
|
|
|
NM_000059.4(BRCA2):c.1226A>G (p.Glu409Gly)
|
|
|
|
NM_000059.4(BRCA2):c.1232T>C (p.Ile411Thr)
|
rs79597821
|
|
|
NM_000059.4(BRCA2):c.1233A>G (p.Ile411Met)
|
rs1555281784
|
|
|
NM_000059.4(BRCA2):c.1234C>A (p.Pro412Thr)
|
rs1555281787
|
|
|
NM_000059.4(BRCA2):c.1234C>T (p.Pro412Ser)
|
rs1555281787
|
|
|
NM_000059.4(BRCA2):c.1235C>G (p.Pro412Arg)
|
rs876659628
|
|
|
NM_000059.4(BRCA2):c.1235C>T (p.Pro412Leu)
|
rs876659628
|
|
|
NM_000059.4(BRCA2):c.1238T>C (p.Leu413Pro)
|
|
|
|
NM_000059.4(BRCA2):c.1246A>G (p.Ile416Val)
|
rs786203710
|
|
|
NM_000059.4(BRCA2):c.1247T>G (p.Ile416Ser)
|
rs80358418
|
|
|
NM_000059.4(BRCA2):c.1250C>A (p.Ser417Tyr)
|
rs1335782281
|
|
|
NM_000059.4(BRCA2):c.1252T>C (p.Ser418Pro)
|
rs2072407631
|
|
|
NM_000059.4(BRCA2):c.1254A>C (p.Ser418=)
|
rs1052409595
|
|
|
NM_000059.4(BRCA2):c.1255T>C (p.Cys419Arg)
|
rs876658829
|
|
|
NM_000059.4(BRCA2):c.1258G>C (p.Asp420His)
|
rs2072407813
|
|
|
NM_000059.4(BRCA2):c.1261C>G (p.Gln421Glu)
|
rs80358419
|
|
|
NM_000059.4(BRCA2):c.1262A>G (p.Gln421Arg)
|
rs1555281798
|
|
|
NM_000059.4(BRCA2):c.1265A>C (p.Asn422Thr)
|
rs587782755
|
|
|
NM_000059.4(BRCA2):c.1267A>G (p.Ile423Val)
|
rs1555281802
|
|
|
NM_000059.4(BRCA2):c.1271C>T (p.Ser424Leu)
|
rs1566223138
|
|
|
NM_000059.4(BRCA2):c.1273G>A (p.Glu425Lys)
|
rs786203512
|
|
|
NM_000059.4(BRCA2):c.1274A>C (p.Glu425Ala)
|
|
|
|
NM_000059.4(BRCA2):c.1274A>G (p.Glu425Gly)
|
rs768169574
|
|
|
NM_000059.4(BRCA2):c.1277A>C (p.Lys426Thr)
|
rs1421854019
|
|
|
NM_000059.4(BRCA2):c.1278A>C (p.Lys426Asn)
|
|
|
|
NM_000059.4(BRCA2):c.1279G>A (p.Asp427Asn)
|
rs147797288
|
|
|
NM_000059.4(BRCA2):c.1280A>C (p.Asp427Ala)
|
|
|
|
NM_000059.4(BRCA2):c.1280A>G (p.Asp427Gly)
|
rs1555281813
|
|
|
NM_000059.4(BRCA2):c.1281C>G (p.Asp427Glu)
|
rs772430226
|
|
|
NM_000059.4(BRCA2):c.1282C>A (p.Leu428Ile)
|
rs547590567
|
|
|
NM_000059.4(BRCA2):c.1282C>G (p.Leu428Val)
|
rs547590567
|
|
|
NM_000059.4(BRCA2):c.1291A>C (p.Thr431Pro)
|
rs864622399
|
|
|
NM_000059.4(BRCA2):c.1292C>A (p.Thr431Lys)
|
rs876660828
|
|
|
NM_000059.4(BRCA2):c.1292C>T (p.Thr431Ile)
|
rs876660828
|
|
|
NM_000059.4(BRCA2):c.1294G>C (p.Glu432Gln)
|
|
|
|
NM_000059.4(BRCA2):c.1295A>C (p.Glu432Ala)
|
rs1161226532
|
|
|
NM_000059.4(BRCA2):c.1298A>G (p.Asn433Ser)
|
rs1593892451
|
|
|
NM_000059.4(BRCA2):c.1299C>G (p.Asn433Lys)
|
rs548313038
|
|
|
NM_000059.4(BRCA2):c.1300A>C (p.Lys434Gln)
|
rs2137469817
|
|
|
NM_000059.4(BRCA2):c.1304G>A (p.Arg435Lys)
|
rs398122725
|
|
|
NM_000059.4(BRCA2):c.1306A>C (p.Lys436Gln)
|
rs2137469924
|
|
|
NM_000059.4(BRCA2):c.1308G>C (p.Lys436Asn)
|
rs1593892488
|
|
|
NM_000059.4(BRCA2):c.1309A>G (p.Lys437Glu)
|
rs2072409220
|
|
|
NM_000059.4(BRCA2):c.1317T>A (p.Phe439Leu)
|
rs1555281834
|
|
|
NM_000059.4(BRCA2):c.1319T>G (p.Leu440Arg)
|
rs2072409540
|
|
|
NM_000059.4(BRCA2):c.1322C>A (p.Thr441Asn)
|
rs1064793062
|
|
|
NM_000059.4(BRCA2):c.1327G>A (p.Glu443Lys)
|
rs397507579
|
|
|
NM_000059.4(BRCA2):c.1328A>G (p.Glu443Gly)
|
rs1593892542
|
|
|
NM_000059.4(BRCA2):c.1329G>T (p.Glu443Asp)
|
rs73169186
|
|
|
NM_000059.4(BRCA2):c.1330A>C (p.Asn444His)
|
rs876660409
|
|
|
NM_000059.4(BRCA2):c.1331A>T (p.Asn444Ile)
|
rs2072409915
|
|
|
NM_000059.4(BRCA2):c.1334C>A (p.Ser445Tyr)
|
rs786202373
|
|
|
NM_000059.4(BRCA2):c.1334C>T (p.Ser445Phe)
|
|
|
|
NM_000059.4(BRCA2):c.1339C>T (p.Pro447Ser)
|
rs1555281846
|
|
|
NM_000059.4(BRCA2):c.1340C>T (p.Pro447Leu)
|
rs587776459
|
|
|
NM_000059.4(BRCA2):c.1343G>C (p.Arg448Pro)
|
|
|
|
NM_000059.4(BRCA2):c.1346T>G (p.Ile449Ser)
|
|
|
|
NM_000059.4(BRCA2):c.1349C>G (p.Ser450Cys)
|
rs876659037
|
|
|
NM_000059.4(BRCA2):c.1351A>G (p.Ser451Gly)
|
rs730881510
|
|
|
NM_000059.4(BRCA2):c.1355T>A (p.Leu452Gln)
|
|
|
|
NM_000059.4(BRCA2):c.1355T>C (p.Leu452Pro)
|
rs753512842
|
|
|
NM_000059.4(BRCA2):c.1357C>G (p.Pro453Ala)
|
rs1566223373
|
|
|
NM_000059.4(BRCA2):c.1357C>T (p.Pro453Ser)
|
|
|
|
NM_000059.4(BRCA2):c.1366G>A (p.Glu456Lys)
|
rs778142232
|
|
|
NM_000059.4(BRCA2):c.1368G>C (p.Glu456Asp)
|
rs747489126
|
|
|
NM_000059.4(BRCA2):c.1372C>T (p.Pro458Ser)
|
|
|
|
NM_000059.4(BRCA2):c.1373C>G (p.Pro458Arg)
|
|
|
|
NM_000059.4(BRCA2):c.1373C>T (p.Pro458Leu)
|
|
|
|
NM_000059.4(BRCA2):c.1378A>C (p.Asn460His)
|
rs1270441968
|
|
|
NM_000059.4(BRCA2):c.1379A>G (p.Asn460Ser)
|
rs777093572
|
|
|
NM_000059.4(BRCA2):c.1382A>C (p.Glu461Ala)
|
rs1566223455
|
|
|
NM_000059.4(BRCA2):c.1385A>T (p.Glu462Val)
|
rs56403624
|
|
|
NM_000059.4(BRCA2):c.1388C>G (p.Thr463Arg)
|
rs151011453
|
|
|
NM_000059.4(BRCA2):c.1388C>T (p.Thr463Ile)
|
rs151011453
|
|
|
NM_000059.4(BRCA2):c.1401G>C (p.Lys467Asn)
|
rs276174808
|
|
|
NM_000059.4(BRCA2):c.1401G>T (p.Lys467Asn)
|
rs276174808
|
|
|
NM_000059.4(BRCA2):c.1403G>A (p.Arg468Lys)
|
rs786202940
|
|
|
NM_000059.4(BRCA2):c.1405G>A (p.Asp469Asn)
|
rs398122727
|
|
|
NM_000059.4(BRCA2):c.1405G>C (p.Asp469His)
|
rs398122727
|
|
|
NM_000059.4(BRCA2):c.1407T>A (p.Asp469Glu)
|
rs1593892789
|
|
|
NM_000059.4(BRCA2):c.1408G>A (p.Glu470Lys)
|
rs1555281898
|
|
|
NM_000059.4(BRCA2):c.1411G>A (p.Glu471Lys)
|
rs80358428
|
|
|
NM_000059.4(BRCA2):c.1416G>C (p.Gln472His)
|
rs876659746
|
|
|
NM_000059.4(BRCA2):c.1418A>T (p.His473Leu)
|
rs80358430
|
|
|
NM_000059.4(BRCA2):c.1424A>G (p.Glu475Gly)
|
rs1213277350
|
|
|
NM_000059.4(BRCA2):c.1429C>T (p.His477Tyr)
|
rs2072412671
|
|
|
NM_000059.4(BRCA2):c.1430A>C (p.His477Pro)
|
rs2137471377
|
|
|
NM_000059.4(BRCA2):c.1433C>A (p.Thr478Lys)
|
rs431825282
|
|
|
NM_000059.4(BRCA2):c.1435G>A (p.Asp479Asn)
|
rs1593892861
|
|
|
NM_000059.4(BRCA2):c.1436A>T (p.Asp479Val)
|
|
|
|
NM_000059.4(BRCA2):c.1438T>C (p.Cys480Arg)
|
rs397507267
|
|
|
NM_000059.4(BRCA2):c.1439G>A (p.Cys480Tyr)
|
rs587782648
|
|
|
NM_000059.4(BRCA2):c.1447G>A (p.Ala483Thr)
|
rs80358432
|
|
|
NM_000059.4(BRCA2):c.1447G>C (p.Ala483Pro)
|
rs80358432
|
|
|
NM_000059.4(BRCA2):c.1447G>T (p.Ala483Ser)
|
rs80358432
|
|
|
NM_000059.4(BRCA2):c.1453A>G (p.Lys485Glu)
|
rs1566223599
|
|
|
NM_000059.4(BRCA2):c.1454A>G (p.Lys485Arg)
|
rs1593892915
|
|
|
NM_000059.4(BRCA2):c.1456C>G (p.Gln486Glu)
|
rs80358434
|
|
|
NM_000059.4(BRCA2):c.1457A>C (p.Gln486Pro)
|
rs757735681
|
|
|
NM_000059.4(BRCA2):c.1457A>G (p.Gln486Arg)
|
rs757735681
|
|
|
NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu)
|
rs56390402
|
|
|
NM_000059.4(BRCA2):c.1462A>C (p.Ile488Leu)
|
rs864622352
|
|
|
NM_000059.4(BRCA2):c.1463T>G (p.Ile488Arg)
|
rs80358436
|
|
|
NM_000059.4(BRCA2):c.1466C>A (p.Ser489Tyr)
|
|
|
|
NM_000059.4(BRCA2):c.1466C>T (p.Ser489Phe)
|
rs587782535
|
|
|
NM_000059.4(BRCA2):c.1469G>A (p.Gly490Glu)
|
rs2137471813
|
|
|
NM_000059.4(BRCA2):c.1471A>G (p.Thr491Ala)
|
rs1566223650
|
|
|
NM_000059.4(BRCA2):c.1480G>A (p.Val494Met)
|
rs1555281919
|
|
|
NM_000059.4(BRCA2):c.1480G>T (p.Val494Leu)
|
|
|
|
NM_000059.4(BRCA2):c.1481T>C (p.Val494Ala)
|
rs786202205
|
|
|
NM_000059.4(BRCA2):c.1483G>A (p.Ala495Thr)
|
rs80358437
|
|
|
NM_000059.4(BRCA2):c.1483G>C (p.Ala495Pro)
|
rs80358437
|
|
|
NM_000059.4(BRCA2):c.1487C>A (p.Ser496Tyr)
|
|
|
|
NM_000059.4(BRCA2):c.1487C>T (p.Ser496Phe)
|
rs397507269
|
|
|
NM_000059.4(BRCA2):c.1490C>T (p.Ser497Leu)
|
rs1064794018
|
|
|
NM_000059.4(BRCA2):c.1494T>G (p.Phe498Leu)
|
rs900882465
|
|
|
NM_000059.4(BRCA2):c.1497G>C (p.Gln499His)
|
rs2072414803
|
|
|
NM_000059.4(BRCA2):c.1498G>C (p.Gly500Arg)
|
rs1233016217
|
|
|
NM_000059.4(BRCA2):c.1499G>A (p.Gly500Asp)
|
rs1064795525
|
|
|
NM_000059.4(BRCA2):c.1503C>G (p.Ile501Met)
|
rs1566223725
|
|
|
NM_000059.4(BRCA2):c.1504A>G (p.Lys502Glu)
|
rs276174809
|
|
|
NM_000059.4(BRCA2):c.1505A>G (p.Lys502Arg)
|
rs990094915
|
|
|
NM_000059.4(BRCA2):c.1508A>G (p.Lys503Arg)
|
|
|
|
NM_000059.4(BRCA2):c.1509G>C (p.Lys503Asn)
|
rs1555281928
|
|
|
NM_000059.4(BRCA2):c.1510T>A (p.Ser504Thr)
|
rs786203006
|
|
|
NM_000059.4(BRCA2):c.1511C>A (p.Ser504Tyr)
|
|
|
|
NM_000059.4(BRCA2):c.1511C>G (p.Ser504Cys)
|
rs886037807
|
|
|
NM_000059.4(BRCA2):c.1517T>C (p.Phe506Ser)
|
rs1249900164
|
|
|
NM_000059.4(BRCA2):c.1518C>G (p.Phe506Leu)
|
rs1438502006
|
|
|
NM_000059.4(BRCA2):c.1522A>G (p.Ile508Val)
|
rs1593893116
|
|
|
NM_000059.4(BRCA2):c.1523T>C (p.Ile508Thr)
|
|
|
|
NM_000059.4(BRCA2):c.1524A>G (p.Ile508Met)
|
rs1593893119
|
|
|
NM_000059.4(BRCA2):c.1535C>T (p.Pro512Leu)
|
rs1184226464
|
|
|
NM_000059.4(BRCA2):c.1537A>G (p.Lys513Glu)
|
rs1555281938
|
|
|
NM_000059.4(BRCA2):c.1540G>C (p.Glu514Gln)
|
|
|
|
NM_000059.4(BRCA2):c.1544C>T (p.Thr515Ile)
|
rs786202142
|
|
|
NM_000059.4(BRCA2):c.1545T>G (p.Thr515=)
|
rs786202158
|
|
|
NM_000059.4(BRCA2):c.1547T>A (p.Phe516Tyr)
|
rs768641298
|
|
|
NM_000059.4(BRCA2):c.1548C>G (p.Phe516Leu)
|
rs2072416104
|
|
|
NM_000059.4(BRCA2):c.1550A>T (p.Asn517Ile)
|
rs80358439
|
|
|
NM_000059.4(BRCA2):c.1552G>C (p.Ala518Pro)
|
rs80358440
|
|
|
NM_000059.4(BRCA2):c.1553C>G (p.Ala518Gly)
|
rs2072416288
|
|
|
NM_000059.4(BRCA2):c.1555A>G (p.Ser519Gly)
|
rs1555281950
|
|
|
NM_000059.4(BRCA2):c.1556G>A (p.Ser519Asn)
|
|
|
|
NM_000059.4(BRCA2):c.1556G>C (p.Ser519Thr)
|
|
|
|
NM_000059.4(BRCA2):c.1561T>C (p.Ser521Pro)
|
rs864622689
|
|
|
NM_000059.4(BRCA2):c.1562C>T (p.Ser521Leu)
|
|
|
|
NM_000059.4(BRCA2):c.1567C>G (p.His523Asp)
|
rs2072416501
|
|
|
NM_000059.4(BRCA2):c.1567C>T (p.His523Tyr)
|
rs2072416501
|
|
|
NM_000059.4(BRCA2):c.1568A>T (p.His523Leu)
|
rs80358443
|
|
|
NM_000059.4(BRCA2):c.1570A>G (p.Met524Val)
|
rs1566223875
|
|
|
NM_000059.4(BRCA2):c.1579C>G (p.Pro527Ala)
|
|
|
|
NM_000059.4(BRCA2):c.1579C>T (p.Pro527Ser)
|
rs758025325
|
|
|
NM_000059.4(BRCA2):c.1586T>A (p.Phe529Tyr)
|
rs1566223912
|
|
|
NM_000059.4(BRCA2):c.1591A>G (p.Lys531Glu)
|
rs876659050
|
|
|
NM_000059.4(BRCA2):c.1592A>C (p.Lys531Thr)
|
rs876658771
|
|
|
NM_000059.4(BRCA2):c.1594G>A (p.Glu532Lys)
|
rs138734772
|
|
|
NM_000059.4(BRCA2):c.1597A>G (p.Thr533Ala)
|
rs1555281980
|
|
|
NM_000059.4(BRCA2):c.1598C>G (p.Thr533Ser)
|
rs781763239
|
|
|
NM_000059.4(BRCA2):c.1599T>C (p.Thr533=)
|
rs80359783
|
|
|
NM_000059.4(BRCA2):c.1604C>T (p.Ala535Val)
|
rs1593893344
|
|
|
NM_000059.4(BRCA2):c.1613G>A (p.Ser538Asn)
|
rs994146384
|
|
|
NM_000059.4(BRCA2):c.1615G>A (p.Gly539Arg)
|
rs876659513
|
|
|
NM_000059.4(BRCA2):c.1625T>C (p.Ile542Thr)
|
rs397507273
|
|
|
NM_000059.4(BRCA2):c.1627C>A (p.His543Asn)
|
rs80358446
|
|
|
NM_000059.4(BRCA2):c.1627C>T (p.His543Tyr)
|
rs80358446
|
|
|
NM_000059.4(BRCA2):c.1628A>C (p.His543Pro)
|
|
|
|
NM_000059.4(BRCA2):c.1628A>G (p.His543Arg)
|
rs1555281992
|
|
|
NM_000059.4(BRCA2):c.162CAA[1] (p.Asn56del)
|
rs11571587
|
|
|
NM_000059.4(BRCA2):c.1630A>G (p.Thr544Ala)
|
rs80358447
|
|
|
NM_000059.4(BRCA2):c.1639T>C (p.Ser547Pro)
|
|
|
|
NM_000059.4(BRCA2):c.1640C>T (p.Ser547Leu)
|
rs80358449
|
|
|
NM_000059.4(BRCA2):c.1644G>C (p.Gln548His)
|
rs55986646
|
|
|
NM_000059.4(BRCA2):c.1645A>G (p.Lys549Glu)
|
rs1555281997
|
|
|
NM_000059.4(BRCA2):c.1646A>G (p.Lys549Arg)
|
rs786203702
|
|
|
NM_000059.4(BRCA2):c.1651G>A (p.Asp551Asn)
|
rs876660500
|
|
|
NM_000059.4(BRCA2):c.1652A>G (p.Asp551Gly)
|
rs1555282001
|
|
|
NM_000059.4(BRCA2):c.1653_1655delinsGGA (p.Asp551_Ser552delinsGluAsp)
|
|
|
|
NM_000059.4(BRCA2):c.1654T>A (p.Ser552Thr)
|
|
|
|
NM_000059.4(BRCA2):c.1654T>G (p.Ser552Ala)
|
|
|
|
NM_000059.4(BRCA2):c.1655C>A (p.Ser552Tyr)
|
rs1566224045
|
|
|
NM_000059.4(BRCA2):c.1660T>C (p.Cys554Arg)
|
rs786202149
|
|
|
NM_000059.4(BRCA2):c.1660T>G (p.Cys554Gly)
|
rs786202149
|
|
|
NM_000059.4(BRCA2):c.1661G>A (p.Cys554Tyr)
|
rs748215651
|
|
|
NM_000059.4(BRCA2):c.1663C>A (p.Pro555Thr)
|
rs876660590
|
|
|
NM_000059.4(BRCA2):c.1664C>T (p.Pro555Leu)
|
rs1566224075
|
|
|
NM_000059.4(BRCA2):c.1666A>C (p.Asn556His)
|
|
|
|
NM_000059.4(BRCA2):c.1666A>G (p.Asn556Asp)
|
rs587781794
|
|
|
NM_000059.4(BRCA2):c.1673T>A (p.Ile558Asn)
|
|
|
|
NM_000059.4(BRCA2):c.1674T>G (p.Ile558Met)
|
rs2072419497
|
|
|
NM_000059.4(BRCA2):c.1681G>C (p.Gly561Arg)
|
rs80358455
|
|
|
NM_000059.4(BRCA2):c.1682G>T (p.Gly561Val)
|
rs1593893593
|
|
|
NM_000059.4(BRCA2):c.1689G>T (p.Trp563Cys)
|
rs80358456
|
|
|
NM_000059.4(BRCA2):c.1700C>T (p.Thr567Ile)
|
rs587782139
|
|
|
NM_000059.4(BRCA2):c.1703C>T (p.Thr568Ile)
|
rs2072420088
|
|
|
NM_000059.4(BRCA2):c.1705C>G (p.Gln569Glu)
|
|
|
|
NM_000059.4(BRCA2):c.1706A>G (p.Gln569Arg)
|
rs1566224153
|
|
|
NM_000059.4(BRCA2):c.1709A>G (p.Asn570Ser)
|
rs431825284
|
|
|
NM_000059.4(BRCA2):c.1712C>T (p.Ser571Phe)
|
|
|
|
NM_000059.4(BRCA2):c.1714G>A (p.Val572Ile)
|
rs587782713
|
|
|
NM_000059.4(BRCA2):c.1714G>C (p.Val572Leu)
|
rs587782713
|
|
|
NM_000059.4(BRCA2):c.1718C>G (p.Ala573Gly)
|
rs1262187089
|
|
|
NM_000059.4(BRCA2):c.1718C>T (p.Ala573Val)
|
rs1262187089
|
|
|
NM_000059.4(BRCA2):c.1726A>G (p.Asn576Asp)
|
rs1566224180
|
|
|
NM_000059.4(BRCA2):c.1728T>A (p.Asn576Lys)
|
rs1555282035
|
|
|
NM_000059.4(BRCA2):c.1729G>C (p.Ala577Pro)
|
|
|
|
NM_000059.4(BRCA2):c.1732G>C (p.Gly578Arg)
|
rs1555282036
|
|
|
NM_000059.4(BRCA2):c.1733G>A (p.Gly578Asp)
|
rs398122730
|
|
|
NM_000059.4(BRCA2):c.1733G>T (p.Gly578Val)
|
rs398122730
|
|
|
NM_000059.4(BRCA2):c.1740A>G (p.Ile580Met)
|
rs750989404
|
|
|
NM_000059.4(BRCA2):c.1741T>C (p.Ser581Pro)
|
rs55667299
|
|
|
NM_000059.4(BRCA2):c.1754A>G (p.Lys585Arg)
|
rs1555282049
|
|
|
NM_000059.4(BRCA2):c.1755G>T (p.Lys585Asn)
|
rs431825285
|
|
|
NM_000059.4(BRCA2):c.1756A>G (p.Lys586Glu)
|
rs397507275
|
|
|
NM_000059.4(BRCA2):c.1760C>A (p.Thr587Lys)
|
|
|
|
NM_000059.4(BRCA2):c.1760C>G (p.Thr587Arg)
|
rs786203316
|
|
|
NM_000059.4(BRCA2):c.1765A>C (p.Lys589Gln)
|
rs587781801
|
|
|
NM_000059.4(BRCA2):c.1765A>G (p.Lys589Glu)
|
rs587781801
|
|
|
NM_000059.4(BRCA2):c.1766A>G (p.Lys589Arg)
|
rs2072421535
|
|
|
NM_000059.4(BRCA2):c.1767G>C (p.Lys589Asn)
|
rs1555282059
|
|
|
NM_000059.4(BRCA2):c.1770T>G (p.Phe590Leu)
|
|
|
|
NM_000059.4(BRCA2):c.1771A>C (p.Ile591Leu)
|
rs786203548
|
|
|
NM_000059.4(BRCA2):c.1771A>G (p.Ile591Val)
|
rs786203548
|
|
|
NM_000059.4(BRCA2):c.1772T>C (p.Ile591Thr)
|
rs876660511
|
|
|
NM_000059.4(BRCA2):c.1775A>T (p.Tyr592Phe)
|
rs772156559
|
|
|
NM_000059.4(BRCA2):c.1777G>T (p.Ala593Ser)
|
rs431825286
|
|
|
NM_000059.4(BRCA2):c.1780A>G (p.Ile594Val)
|
rs431825287
|
|
|
NM_000059.4(BRCA2):c.1783C>T (p.His595Tyr)
|
rs587781906
|
|
|
NM_000059.4(BRCA2):c.1784A>G (p.His595Arg)
|
rs80358460
|
|
|
NM_000059.4(BRCA2):c.1791A>C (p.Glu597Asp)
|
|
|
|
NM_000059.4(BRCA2):c.1796C>G (p.Ser599Cys)
|
rs1046984
|
|
|
NM_000059.4(BRCA2):c.1799A>G (p.Tyr600Cys)
|
rs397507276
|
|
|
NM_000059.4(BRCA2):c.1799A>T (p.Tyr600Phe)
|
rs397507276
|
|
|
NM_000059.4(BRCA2):c.1802A>G (p.Lys601Arg)
|
rs1593893911
|
|
|
NM_000059.4(BRCA2):c.1807A>G (p.Lys603Glu)
|
rs1555282089
|
|
|
NM_000059.4(BRCA2):c.1816C>T (p.Pro606Ser)
|
rs765924757
|
|
|
NM_000059.4(BRCA2):c.1819A>C (p.Lys607Gln)
|
rs80358471
|
|
|
NM_000059.4(BRCA2):c.1819A>G (p.Lys607Glu)
|
rs80358471
|
|
|
NM_000059.4(BRCA2):c.1820A>G (p.Lys607Arg)
|
rs55962656
|
|
|
NM_000059.4(BRCA2):c.1822G>A (p.Asp608Asn)
|
rs1064794170
|
|
|
NM_000059.4(BRCA2):c.1824C>G (p.Asp608Glu)
|
rs786202186
|
|
|
NM_000059.4(BRCA2):c.1825C>G (p.Gln609Glu)
|
rs80358472
|
|
|
NM_000059.4(BRCA2):c.1826A>G (p.Gln609Arg)
|
rs80358473
|
|
|
NM_000059.4(BRCA2):c.1834G>A (p.Glu612Lys)
|
rs1135401938
|
|
|
NM_000059.4(BRCA2):c.1834_1835delinsTT (p.Glu612Leu)
|
rs1555282105
|
|
|
NM_000059.4(BRCA2):c.1835A>T (p.Glu612Val)
|
|
|
|
NM_000059.4(BRCA2):c.1837C>G (p.Leu613Val)
|
rs879255438
|
|
|
NM_000059.4(BRCA2):c.1841T>G (p.Ile614Ser)
|
|
|
|
NM_000059.4(BRCA2):c.1843A>C (p.Asn615His)
|
|
|
|
NM_000059.4(BRCA2):c.1843A>T (p.Asn615Tyr)
|
rs777641881
|
|
|
NM_000059.4(BRCA2):c.1844A>C (p.Asn615Thr)
|
rs1593894051
|
|
|
NM_000059.4(BRCA2):c.1844A>G (p.Asn615Ser)
|
rs1593894051
|
|
|
NM_000059.4(BRCA2):c.1845C>A (p.Asn615Lys)
|
rs941500711
|
|
|
NM_000059.4(BRCA2):c.1847G>A (p.Cys616Tyr)
|
rs1230674723
|
|
|
NM_000059.4(BRCA2):c.1849T>C (p.Ser617Pro)
|
rs587782871
|
|
|
NM_000059.4(BRCA2):c.1850C>T (p.Ser617Leu)
|
rs397507278
|
|
|
NM_000059.4(BRCA2):c.1858T>C (p.Phe620Leu)
|
rs876659195
|
|
|
NM_000059.4(BRCA2):c.1860T>G (p.Phe620Leu)
|
rs1064793402
|
|
|
NM_000059.4(BRCA2):c.1861_1863delinsAGC (p.Glu621Ser)
|
rs2072424315
|
|
|
NM_000059.4(BRCA2):c.1863A>C (p.Glu621Asp)
|
rs587782782
|
|
|
NM_000059.4(BRCA2):c.1864G>A (p.Ala622Thr)
|
rs1566224537
|
|
|
NM_000059.4(BRCA2):c.1867A>C (p.Asn623His)
|
rs1060502388
|
|
|
NM_000059.4(BRCA2):c.1867A>G (p.Asn623Asp)
|
rs1060502388
|
|
|
NM_000059.4(BRCA2):c.1868A>G (p.Asn623Ser)
|
|
|
|
NM_000059.4(BRCA2):c.1871C>G (p.Ala624Gly)
|
rs769698255
|
|
|
NM_000059.4(BRCA2):c.1871C>T (p.Ala624Val)
|
rs769698255
|
|
|
NM_000059.4(BRCA2):c.1874T>G (p.Phe625Cys)
|
rs587779359
|
|
|
NM_000059.4(BRCA2):c.1880C>G (p.Ala627Gly)
|
rs587782055
|
|
|
NM_000059.4(BRCA2):c.1880C>T (p.Ala627Val)
|
rs587782055
|
|
|
NM_000059.4(BRCA2):c.1882C>T (p.Pro628Ser)
|
rs1163156807
|
|
|
NM_000059.4(BRCA2):c.1883C>T (p.Pro628Leu)
|
|
|
|
NM_000059.4(BRCA2):c.1889C>A (p.Thr630Lys)
|
rs80358479
|
|
|
NM_000059.4(BRCA2):c.1895C>G (p.Ala632Gly)
|
rs876659192
|
|
|
NM_000059.4(BRCA2):c.1903G>C (p.Asp635His)
|
rs1566224604
|
|
|
NM_000059.4(BRCA2):c.1905T>A (p.Asp635Glu)
|
rs1555282154
|
|
|
NM_000059.4(BRCA2):c.1905T>G (p.Asp635Glu)
|
rs1555282154
|
|
|
NM_000059.4(BRCA2):c.1909+22del
|
rs276174816
|
|
|
NM_000059.4(BRCA2):c.1911T>G (p.Gly637=)
|
rs11571652
|
|
|
NM_000059.4(BRCA2):c.1912T>G (p.Leu638Val)
|
rs80358481
|
|
|
NM_000059.4(BRCA2):c.1918C>A (p.His640Asn)
|
rs2072446918
|
|
|
NM_000059.4(BRCA2):c.1922C>T (p.Ser641Phe)
|
rs786202360
|
|
|
NM_000059.4(BRCA2):c.1924T>A (p.Ser642Thr)
|
rs2137481857
|
|
|
NM_000059.4(BRCA2):c.1928T>G (p.Val643Gly)
|
rs922597695
|
|
|
NM_000059.4(BRCA2):c.1931A>T (p.Lys644Ile)
|
rs1555282365
|
|
|
NM_000059.4(BRCA2):c.1934G>T (p.Arg645Ile)
|
|
|
|
NM_000059.4(BRCA2):c.1936A>C (p.Ser646Arg)
|
rs587782589
|
|
|
NM_000059.4(BRCA2):c.1938C>G (p.Ser646Arg)
|
rs28897711
|
|
|
NM_000059.4(BRCA2):c.1939T>A (p.Cys647Ser)
|
rs1555282367
|
|
|
NM_000059.4(BRCA2):c.1939T>C (p.Cys647Arg)
|
rs1555282367
|
|
|
NM_000059.4(BRCA2):c.1939T>G (p.Cys647Gly)
|
rs1555282367
|
|
|
NM_000059.4(BRCA2):c.1940G>A (p.Cys647Tyr)
|
rs1555282368
|
|
|
NM_000059.4(BRCA2):c.1940G>C (p.Cys647Ser)
|
rs1555282368
|
|
|
NM_000059.4(BRCA2):c.1951G>T (p.Asp651Tyr)
|
rs80358482
|
|
|
NM_000059.4(BRCA2):c.1952A>G (p.Asp651Gly)
|
rs747387987
|
|
|
NM_000059.4(BRCA2):c.1959A>G (p.Glu653=)
|
rs276174817
|
|
|
NM_000059.4(BRCA2):c.1963C>A (p.Pro655Thr)
|
rs1566225847
|
|
|
NM_000059.4(BRCA2):c.1963C>T (p.Pro655Ser)
|
|
|
|
NM_000059.4(BRCA2):c.1964C>A (p.Pro655Gln)
|
rs28897712
|
|
|
NM_000059.4(BRCA2):c.1964C>T (p.Pro655Leu)
|
rs28897712
|
|
|
NM_000059.4(BRCA2):c.1967C>A (p.Thr656Asn)
|
rs876660857
|
|
|
NM_000059.4(BRCA2):c.1973C>T (p.Ser658Phe)
|
rs775060172
|
|
|
NM_000059.4(BRCA2):c.1981A>G (p.Ser661Gly)
|
rs2072448315
|
|
|
NM_000059.4(BRCA2):c.1991G>A (p.Gly664Glu)
|
rs1555282391
|
|
|
NM_000059.4(BRCA2):c.1991G>C (p.Gly664Ala)
|
rs1555282391
|
|
|
NM_000059.4(BRCA2):c.1994C>A (p.Thr665Lys)
|
rs587781917
|
|
|
NM_000059.4(BRCA2):c.2003G>A (p.Arg668Lys)
|
rs80358483
|
|
|
NM_000059.4(BRCA2):c.2015G>T (p.Arg672Ile)
|
rs2137482557
|
|
|
NM_000059.4(BRCA2):c.2016A>C (p.Arg672Ser)
|
rs1566225944
|
|
|
NM_000059.4(BRCA2):c.2021A>G (p.Glu674Gly)
|
rs56311811
|
|
|
NM_000059.4(BRCA2):c.2024C>G (p.Thr675Arg)
|
rs80358484
|
|
|
NM_000059.4(BRCA2):c.2029T>G (p.Ser677Ala)
|
rs876658723
|
|
|
NM_000059.4(BRCA2):c.2030C>G (p.Ser677Cys)
|
rs1555282410
|
|
|
NM_000059.4(BRCA2):c.2030C>T (p.Ser677Phe)
|
rs1555282410
|
|
|
NM_000059.4(BRCA2):c.2033A>C (p.Asn678Thr)
|
rs1555282412
|
|
|
NM_000059.4(BRCA2):c.2035A>C (p.Asn679His)
|
rs786202617
|
|
|
NM_000059.4(BRCA2):c.2035A>G (p.Asn679Asp)
|
rs786202617
|
|
|
NM_000059.4(BRCA2):c.2035A>T (p.Asn679Tyr)
|
rs786202617
|
|
|
NM_000059.4(BRCA2):c.2037T>A (p.Asn679Lys)
|
rs1406955615
|
|
|
NM_000059.4(BRCA2):c.2039C>G (p.Thr680Arg)
|
rs1566226005
|
|
|
NM_000059.4(BRCA2):c.2039C>T (p.Thr680Ile)
|
rs1566226005
|
|
|
NM_000059.4(BRCA2):c.2042T>C (p.Val681Ala)
|
rs1039304689
|
|
|
NM_000059.4(BRCA2):c.2044A>G (p.Ile682Val)
|
rs398122738
|
|
|
NM_000059.4(BRCA2):c.2044A>T (p.Ile682Phe)
|
rs398122738
|
|
|
NM_000059.4(BRCA2):c.2045T>C (p.Ile682Thr)
|
rs398122739
|
|
|
NM_000059.4(BRCA2):c.2047T>C (p.Ser683Pro)
|
rs398122740
|
|
|
NM_000059.4(BRCA2):c.2048C>T (p.Ser683Phe)
|
rs1566226030
|
|
|
NM_000059.4(BRCA2):c.2054A>T (p.Asp685Val)
|
rs1555282420
|
|
|
NM_000059.4(BRCA2):c.2056C>T (p.Leu686Phe)
|
rs1135401896
|
|
|
NM_000059.4(BRCA2):c.2059G>A (p.Asp687Asn)
|
rs2072449688
|
|
|
NM_000059.4(BRCA2):c.2060A>G (p.Asp687Gly)
|
rs1593896033
|
|
|
NM_000059.4(BRCA2):c.2063A>G (p.Tyr688Cys)
|
rs28897713
|
|
|
NM_000059.4(BRCA2):c.2071G>A (p.Ala691Thr)
|
rs431825290
|
|
|
NM_000059.4(BRCA2):c.2077T>C (p.Cys693Arg)
|
rs878853558
|
|
|
NM_000059.4(BRCA2):c.2086G>A (p.Glu696Lys)
|
rs431825291
|
|
|
NM_000059.4(BRCA2):c.2087A>G (p.Glu696Gly)
|
rs1593896068
|
|
|
NM_000059.4(BRCA2):c.2089A>G (p.Lys697Glu)
|
rs876658320
|
|
|
NM_000059.4(BRCA2):c.2091A>C (p.Lys697Asn)
|
rs876659230
|
|
|
NM_000059.4(BRCA2):c.2097G>T (p.Gln699His)
|
rs80358486
|
|
|
NM_000059.4(BRCA2):c.2098T>A (p.Leu700Ile)
|
rs431825293
|
|
|
NM_000059.4(BRCA2):c.2108C>T (p.Thr703Ile)
|
rs876660137
|
|
|
NM_000059.4(BRCA2):c.2113G>C (p.Glu705Gln)
|
|
|
|
NM_000059.4(BRCA2):c.2119G>A (p.Asp707Asn)
|
rs80358487
|
|
|
NM_000059.4(BRCA2):c.2123C>A (p.Ser708Tyr)
|
rs1593896146
|
|
|
NM_000059.4(BRCA2):c.2125C>A (p.Leu709Met)
|
rs80358489
|
|
|
NM_000059.4(BRCA2):c.2125C>G (p.Leu709Val)
|
rs80358489
|
|
|
NM_000059.4(BRCA2):c.2129C>T (p.Ser710Leu)
|
rs886040405
|
|
|
NM_000059.4(BRCA2):c.2132G>A (p.Cys711Tyr)
|
rs2072451032
|
|
|
NM_000059.4(BRCA2):c.2135T>C (p.Leu712Pro)
|
rs80358490
|
|
|
NM_000059.4(BRCA2):c.2141A>C (p.Glu714Ala)
|
rs2137483648
|
|
|
NM_000059.4(BRCA2):c.2141A>G (p.Glu714Gly)
|
|
|
|
NM_000059.4(BRCA2):c.2144G>A (p.Gly715Glu)
|
rs1566226193
|
|
|
NM_000059.4(BRCA2):c.2149T>G (p.Cys717Gly)
|
rs1555282483
|
|
|
NM_000059.4(BRCA2):c.2150G>A (p.Cys717Tyr)
|
rs1184992634
|
|
|
NM_000059.4(BRCA2):c.2152G>A (p.Glu718Lys)
|
rs397507281
|
|
|
NM_000059.4(BRCA2):c.2153A>C (p.Glu718Ala)
|
rs1060502427
|
|
|
NM_000059.4(BRCA2):c.2159A>T (p.Asp720Val)
|
rs1593896239
|
|
|
NM_000059.4(BRCA2):c.2161C>T (p.Pro721Ser)
|
rs867089743
|
|
|
NM_000059.4(BRCA2):c.2162C>G (p.Pro721Arg)
|
rs730881512
|
|
|
NM_000059.4(BRCA2):c.2168G>A (p.Ser723Asn)
|
|
|
|
NM_000059.4(BRCA2):c.2179T>C (p.Ser727Pro)
|
|
|
|
NM_000059.4(BRCA2):c.2182G>T (p.Asp728Tyr)
|
rs1566226248
|
|
|
NM_000059.4(BRCA2):c.2183A>C (p.Asp728Ala)
|
rs757577670
|
|
|
NM_000059.4(BRCA2):c.2185A>G (p.Ile729Val)
|
rs431825295
|
|
|
NM_000059.4(BRCA2):c.2186T>G (p.Ile729Arg)
|
|
|
|
NM_000059.4(BRCA2):c.2187A>G (p.Ile729Met)
|
rs397507620
|
|
|
NM_000059.4(BRCA2):c.2188A>G (p.Lys730Glu)
|
rs1555282510
|
|
|
NM_000059.4(BRCA2):c.2194G>C (p.Glu732Gln)
|
rs1244303575
|
|
|
NM_000059.4(BRCA2):c.2197G>A (p.Val733Ile)
|
rs876658303
|
|
|
NM_000059.4(BRCA2):c.2197G>T (p.Val733Phe)
|
rs876658303
|
|
|
NM_000059.4(BRCA2):c.2201T>C (p.Leu734Ser)
|
|
|
|
NM_000059.4(BRCA2):c.2210C>G (p.Ala737Gly)
|
rs876660923
|
|
|
NM_000059.4(BRCA2):c.2215C>G (p.His739Asp)
|
rs1555282536
|
|
|
NM_000059.4(BRCA2):c.2218C>G (p.Pro740Ala)
|
rs2137484346
|
|
|
NM_000059.4(BRCA2):c.2218C>T (p.Pro740Ser)
|
|
|
|
NM_000059.4(BRCA2):c.2221G>A (p.Val741Ile)
|
|
|
|
NM_000059.4(BRCA2):c.2221G>C (p.Val741Leu)
|
rs80358493
|
|
|
NM_000059.4(BRCA2):c.2224C>A (p.Gln742Lys)
|
rs80358494
|
|
|
NM_000059.4(BRCA2):c.2226A>T (p.Gln742His)
|
|
|
|
NM_000059.4(BRCA2):c.2231C>T (p.Ser744Leu)
|
rs397507282
|
|
|
NM_000059.4(BRCA2):c.2239G>A (p.Glu747Lys)
|
rs878853561
|
|
|
NM_000059.4(BRCA2):c.2240A>C (p.Glu747Ala)
|
rs397507283
|
|
|
NM_000059.4(BRCA2):c.2240A>G (p.Glu747Gly)
|
rs397507283
|
|
|
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly)
|
rs80358495
|
|
|
NM_000059.4(BRCA2):c.2249A>C (p.Asp750Ala)
|
rs1555282574
|
|
|
NM_000059.4(BRCA2):c.2252C>G (p.Thr751Ser)
|
rs398122743
|
|
|
NM_000059.4(BRCA2):c.2256C>G (p.Asp752Glu)
|
rs766384913
|
|
|
NM_000059.4(BRCA2):c.2260C>G (p.Gln754Glu)
|
rs80358496
|
|
|
NM_000059.4(BRCA2):c.2261A>G (p.Gln754Arg)
|
rs56289428
|
|
|
NM_000059.4(BRCA2):c.2264C>G (p.Ser755Cys)
|
rs876659060
|
|
|
NM_000059.4(BRCA2):c.2266C>G (p.Gln756Glu)
|
rs1057518637
|
|
|
NM_000059.4(BRCA2):c.2273G>A (p.Ser758Asn)
|
rs1593896511
|
|
|
NM_000059.4(BRCA2):c.2280A>C (p.Leu760Phe)
|
rs1593896537
|
|
|
NM_000059.4(BRCA2):c.2281T>C (p.Tyr761His)
|
rs80358499
|
|
|
NM_000059.4(BRCA2):c.2282A>C (p.Tyr761Ser)
|
rs879255443
|
|
|
NM_000059.4(BRCA2):c.2282A>G (p.Tyr761Cys)
|
rs879255443
|
|
|
NM_000059.4(BRCA2):c.2285A>G (p.Asp762Gly)
|
rs1555282600
|
|
|
NM_000059.4(BRCA2):c.2285A>T (p.Asp762Val)
|
rs1555282600
|
|
|
NM_000059.4(BRCA2):c.2287C>T (p.His763Tyr)
|
|
|
|
NM_000059.4(BRCA2):c.2289T>A (p.His763Gln)
|
|
|
|
NM_000059.4(BRCA2):c.2300G>A (p.Ser767Asn)
|
rs2137485146
|
|
|
NM_000059.4(BRCA2):c.2300G>C (p.Ser767Thr)
|
|
|
|
NM_000059.4(BRCA2):c.2301C>G (p.Ser767Arg)
|
|
|
|
NM_000059.4(BRCA2):c.2303C>A (p.Thr768Asn)
|
rs55824746
|
|
|
NM_000059.4(BRCA2):c.2303C>T (p.Thr768Ile)
|
rs55824746
|
|
|
NM_000059.4(BRCA2):c.2305C>T (p.Leu769Phe)
|
rs2072454785
|
|
|
NM_000059.4(BRCA2):c.2306T>G (p.Leu769Arg)
|
rs1555282603
|
|
|
NM_000059.4(BRCA2):c.2308A>G (p.Ile770Val)
|
rs1593896607
|
|
|
NM_000059.4(BRCA2):c.2315C>T (p.Thr772Ile)
|
rs1064794522
|
|
|
NM_000059.4(BRCA2):c.2321C>A (p.Thr774Asn)
|
rs1239876081
|
|
|
NM_000059.4(BRCA2):c.2321C>T (p.Thr774Ile)
|
rs1239876081
|
|
|
NM_000059.4(BRCA2):c.2323T>A (p.Ser775Thr)
|
rs879255444
|
|
|
NM_000059.4(BRCA2):c.2327A>G (p.Lys776Arg)
|
rs876659502
|
|
|
NM_000059.4(BRCA2):c.2329G>A (p.Asp777Asn)
|
|
|
|
NM_000059.4(BRCA2):c.2329G>T (p.Asp777Tyr)
|
rs2072455387
|
|
|
NM_000059.4(BRCA2):c.2332G>C (p.Val778Leu)
|
|
|
|
NM_000059.4(BRCA2):c.2337G>T (p.Leu779=)
|
rs80359784
|
|
|
NM_000059.4(BRCA2):c.2341A>C (p.Asn781His)
|
rs587782485
|
|
|
NM_000059.4(BRCA2):c.2341A>G (p.Asn781Asp)
|
|
|
|
NM_000059.4(BRCA2):c.2343C>A (p.Asn781Lys)
|
rs876660253
|
|
|
NM_000059.4(BRCA2):c.2344C>G (p.Leu782Val)
|
rs749810048
|
|
|
NM_000059.4(BRCA2):c.2347G>A (p.Val783Ile)
|
rs1566226546
|
|
|
NM_000059.4(BRCA2):c.2348T>C (p.Val783Ala)
|
rs768143929
|
|
|
NM_000059.4(BRCA2):c.2351T>G (p.Met784Arg)
|
rs1555282633
|
|
|
NM_000059.4(BRCA2):c.2352G>A (p.Met784Ile)
|
rs2072455836
|
|
|
NM_000059.4(BRCA2):c.2353A>G (p.Ile785Val)
|
rs747748537
|
|
|
NM_000059.4(BRCA2):c.2357C>A (p.Ser786Tyr)
|
|
|
|
NM_000059.4(BRCA2):c.2357C>G (p.Ser786Cys)
|
rs80358501
|
|
|
NM_000059.4(BRCA2):c.2359A>G (p.Arg787Gly)
|
rs1060502451
|
|
|
NM_000059.4(BRCA2):c.2361A>C (p.Arg787Ser)
|
|
|
|
NM_000059.4(BRCA2):c.2362G>A (p.Gly788Ser)
|
rs1060502434
|
|
|
NM_000059.4(BRCA2):c.2362G>C (p.Gly788Arg)
|
|
|
|
NM_000059.4(BRCA2):c.2363G>A (p.Gly788Asp)
|
rs886039316
|
|
|
NM_000059.4(BRCA2):c.2369A>T (p.Glu790Val)
|
rs1555282644
|
|
|
NM_000059.4(BRCA2):c.2374T>C (p.Tyr792His)
|
rs1484798037
|
|
|
NM_000059.4(BRCA2):c.2375A>T (p.Tyr792Phe)
|
|
|
|
NM_000059.4(BRCA2):c.2382G>A (p.Met794Ile)
|
rs1555282646
|
|
|
NM_000059.4(BRCA2):c.2382G>C (p.Met794Ile)
|
|
|
|
NM_000059.4(BRCA2):c.2384C>T (p.Ser795Leu)
|
rs2072456490
|
|
|
NM_000059.4(BRCA2):c.2386G>C (p.Asp796His)
|
rs1555282650
|
|
|
NM_000059.4(BRCA2):c.2389A>C (p.Lys797Gln)
|
rs587782737
|
|
|
NM_000059.4(BRCA2):c.2390A>G (p.Lys797Arg)
|
rs2072456610
|
|
|
NM_000059.4(BRCA2):c.2396A>G (p.Lys799Arg)
|
rs1555282656
|
|
|
NM_000059.4(BRCA2):c.2398G>A (p.Gly800Ser)
|
rs431825297
|
|
|
NM_000059.4(BRCA2):c.2399G>A (p.Gly800Asp)
|
rs276174821
|
|
|
NM_000059.4(BRCA2):c.2401A>C (p.Asn801His)
|
rs765279896
|
|
|
NM_000059.4(BRCA2):c.2404A>G (p.Asn802Asp)
|
|
|
|
NM_000059.4(BRCA2):c.2405A>G (p.Asn802Ser)
|
rs876661089
|
|
|
NM_000059.4(BRCA2):c.2417A>T (p.Asp806Val)
|
rs80358506
|
|
|
NM_000059.4(BRCA2):c.2418T>A (p.Asp806Glu)
|
rs1131692107
|
|
|
NM_000059.4(BRCA2):c.241T>A (p.Phe81Ile)
|
rs80358507
|
|
|
NM_000059.4(BRCA2):c.2423A>C (p.Glu808Ala)
|
rs1593896901
|
|
|
NM_000059.4(BRCA2):c.2424A>G (p.Glu808=)
|
rs55646808
|
|
|
NM_000059.4(BRCA2):c.2434A>G (p.Asn812Asp)
|
|
|
|
NM_000059.4(BRCA2):c.2440C>A (p.Pro814Thr)
|
|
|
|
NM_000059.4(BRCA2):c.2441C>T (p.Pro814Leu)
|
rs80358510
|
|
|
NM_000059.4(BRCA2):c.2443A>C (p.Met815Leu)
|
rs786203814
|
|
|
NM_000059.4(BRCA2):c.2445G>A (p.Met815Ile)
|
|
|
|
NM_000059.4(BRCA2):c.2446G>A (p.Glu816Lys)
|
rs730881514
|
|
|
NM_000059.4(BRCA2):c.2447A>G (p.Glu816Gly)
|
rs1555282673
|
|
|
NM_000059.4(BRCA2):c.2449A>C (p.Lys817Gln)
|
rs587782142
|
|
|
NM_000059.4(BRCA2):c.2451G>C (p.Lys817Asn)
|
rs767686668
|
|
|
NM_000059.4(BRCA2):c.2453A>G (p.Asn818Ser)
|
rs1555282681
|
|
|
NM_000059.4(BRCA2):c.2456A>G (p.Gln819Arg)
|
rs1555282683
|
|
|
NM_000059.4(BRCA2):c.2457A>C (p.Gln819His)
|
rs1555282684
|
|
|
NM_000059.4(BRCA2):c.2458G>A (p.Asp820Asn)
|
rs1593896974
|
|
|
NM_000059.4(BRCA2):c.2458G>C (p.Asp820His)
|
rs1593896974
|
|
|
NM_000059.4(BRCA2):c.2460T>G (p.Asp820Glu)
|
rs1555282686
|
|
|
NM_000059.4(BRCA2):c.2464T>C (p.Cys822Arg)
|
rs80358512
|
|
|
NM_000059.4(BRCA2):c.2467G>A (p.Ala823Thr)
|
rs876659299
|
|
|
NM_000059.4(BRCA2):c.2473A>G (p.Asn825Asp)
|
rs587781483
|
|
|
NM_000059.4(BRCA2):c.2475T>G (p.Asn825Lys)
|
rs1566226801
|
|
|
NM_000059.4(BRCA2):c.2476G>A (p.Glu826Lys)
|
rs1566226803
|
|
|
NM_000059.4(BRCA2):c.2477A>C (p.Glu826Ala)
|
rs1214763097
|
|
|
NM_000059.4(BRCA2):c.2477A>G (p.Glu826Gly)
|
rs1214763097
|
|
|
NM_000059.4(BRCA2):c.2482T>C (p.Tyr828His)
|
rs1060502466
|
|
|
NM_000059.4(BRCA2):c.2485A>G (p.Lys829Glu)
|
rs1270048702
|
|
|
NM_000059.4(BRCA2):c.2489A>G (p.Asn830Ser)
|
rs786202809
|
|
|
NM_000059.4(BRCA2):c.2489A>T (p.Asn830Ile)
|
rs786202809
|
|
|
NM_000059.4(BRCA2):c.2490C>A (p.Asn830Lys)
|
rs56331088
|
|
|
NM_000059.4(BRCA2):c.2490C>G (p.Asn830Lys)
|
rs56331088
|
|
|
NM_000059.4(BRCA2):c.2492T>C (p.Val831Ala)
|
rs779520270
|
|
|
NM_000059.4(BRCA2):c.2494G>C (p.Glu832Gln)
|
|
|
|
NM_000059.4(BRCA2):c.2504C>T (p.Pro835Leu)
|
rs1593897100
|
|
|
NM_000059.4(BRCA2):c.2506C>T (p.Pro836Ser)
|
rs1593897105
|
|
|
NM_000059.4(BRCA2):c.2514A>C (p.Lys838Asn)
|
rs2072459198
|
|
|
NM_000059.4(BRCA2):c.2515T>C (p.Tyr839His)
|
rs587778125
|
|
|
NM_000059.4(BRCA2):c.2516A>G (p.Tyr839Cys)
|
rs2137487301
|
|
|
NM_000059.4(BRCA2):c.2518A>G (p.Met840Val)
|
rs2072459289
|
|
|
NM_000059.4(BRCA2):c.2519T>C (p.Met840Thr)
|
rs758009637
|
|
|
NM_000059.4(BRCA2):c.2520G>A (p.Met840Ile)
|
rs1566226868
|
|
|
NM_000059.4(BRCA2):c.2521A>G (p.Arg841Gly)
|
rs1555282722
|
|
|
NM_000059.4(BRCA2):c.2522G>A (p.Arg841Lys)
|
rs587781915
|
|
|
NM_000059.4(BRCA2):c.2523A>T (p.Arg841Ser)
|
|
|
|
NM_000059.4(BRCA2):c.2526A>G (p.Val842=)
|
rs770778164
|
|
|
NM_000059.4(BRCA2):c.2527G>C (p.Ala843Pro)
|
|
|
|
NM_000059.4(BRCA2):c.2527G>T (p.Ala843Ser)
|
rs1555282730
|
|
|
NM_000059.4(BRCA2):c.2528C>T (p.Ala843Val)
|
rs80358517
|
|
|
NM_000059.4(BRCA2):c.2533C>T (p.Pro845Ser)
|
rs2137487455
|
|
|
NM_000059.4(BRCA2):c.2533_2534delinsGA (p.Pro845Asp)
|
rs2137487466
|
|
|
NM_000059.4(BRCA2):c.2543A>G (p.Lys848Arg)
|
rs1555282739
|
|
|
NM_000059.4(BRCA2):c.2544G>C (p.Lys848Asn)
|
rs78879762
|
|
|
NM_000059.4(BRCA2):c.2545G>T (p.Val849Leu)
|
rs786202105
|
|
|
NM_000059.4(BRCA2):c.2546T>G (p.Val849Gly)
|
|
|
|
NM_000059.4(BRCA2):c.2549A>C (p.Gln850Pro)
|
rs2072459937
|
|
|
NM_000059.4(BRCA2):c.2549A>G (p.Gln850Arg)
|
rs2072459937
|
|
|
NM_000059.4(BRCA2):c.2551T>C (p.Phe851Leu)
|
|
|
|
NM_000059.4(BRCA2):c.2555A>G (p.Asn852Ser)
|
rs80358519
|
|
|
NM_000059.4(BRCA2):c.2556C>G (p.Asn852Lys)
|
rs1566226932
|
|
|
NM_000059.4(BRCA2):c.2558A>G (p.Gln853Arg)
|
rs56245590
|
|
|
NM_000059.4(BRCA2):c.2569C>G (p.Leu857Val)
|
rs767596766
|
|
|
NM_000059.4(BRCA2):c.2573G>A (p.Arg858Lys)
|
|
|
|
NM_000059.4(BRCA2):c.2576T>C (p.Val859Ala)
|
rs1566226964
|
|
|
NM_000059.4(BRCA2):c.2578A>G (p.Ile860Val)
|
rs786202072
|
|
|
NM_000059.4(BRCA2):c.2581C>A (p.Gln861Lys)
|
rs773356478
|
|
|
NM_000059.4(BRCA2):c.2585A>G (p.Lys862Arg)
|
rs876659257
|
|
|
NM_000059.4(BRCA2):c.2588A>G (p.Asn863Ser)
|
rs760880622
|
|
|
NM_000059.4(BRCA2):c.2591A>C (p.Gln864Pro)
|
rs876659547
|
|
|
NM_000059.4(BRCA2):c.2591A>T (p.Gln864Leu)
|
rs876659547
|
|
|
NM_000059.4(BRCA2):c.2594A>G (p.Glu865Gly)
|
rs1593897302
|
|
|
NM_000059.4(BRCA2):c.2596G>A (p.Glu866Lys)
|
rs864622476
|
|
|
NM_000059.4(BRCA2):c.2596G>C (p.Glu866Gln)
|
rs864622476
|
|
|
NM_000059.4(BRCA2):c.2597A>T (p.Glu866Val)
|
rs1555282752
|
|
|
NM_000059.4(BRCA2):c.2598A>T (p.Glu866Asp)
|
rs587780549
|
|
|
NM_000059.4(BRCA2):c.2602A>C (p.Thr868Pro)
|
rs1368861313
|
|
|
NM_000059.4(BRCA2):c.2603C>T (p.Thr868Ile)
|
rs1566227012
|
|
|
NM_000059.4(BRCA2):c.2608A>G (p.Ile870Val)
|
|
|
|
NM_000059.4(BRCA2):c.2617A>C (p.Ile873Leu)
|
rs2072461250
|
|
|
NM_000059.4(BRCA2):c.2617A>G (p.Ile873Val)
|
|
|
|
NM_000059.4(BRCA2):c.2620A>G (p.Thr874Ala)
|
rs1593897363
|
|
|
NM_000059.4(BRCA2):c.2623G>A (p.Val875Ile)
|
rs587782582
|
|
|
NM_000059.4(BRCA2):c.2624T>C (p.Val875Ala)
|
rs2137488298
|
|
|
NM_000059.4(BRCA2):c.2629C>A (p.Pro877Thr)
|
rs80358524
|
|
|
NM_000059.4(BRCA2):c.2629C>G (p.Pro877Ala)
|
rs80358524
|
|
|
NM_000059.4(BRCA2):c.2629C>T (p.Pro877Ser)
|
rs80358524
|
|
|
NM_000059.4(BRCA2):c.2632G>C (p.Asp878His)
|
rs1593897379
|
|
|
NM_000059.4(BRCA2):c.2633A>C (p.Asp878Ala)
|
|
|
|
NM_000059.4(BRCA2):c.2636C>G (p.Ser879Cys)
|
rs1064793412
|
|
|
NM_000059.4(BRCA2):c.2642A>G (p.Glu881Gly)
|
rs1284899820
|
|
|
NM_000059.4(BRCA2):c.2650T>G (p.Ser884Ala)
|
rs1555282771
|
|
|
NM_000059.4(BRCA2):c.2656A>G (p.Asn886Asp)
|
|
|
|
NM_000059.4(BRCA2):c.2657A>G (p.Asn886Ser)
|
rs80358526
|
|
|
NM_000059.4(BRCA2):c.2659G>A (p.Glu887Lys)
|
rs876658391
|
|
|
NM_000059.4(BRCA2):c.2660A>G (p.Glu887Gly)
|
rs587782015
|
|
|
NM_000059.4(BRCA2):c.2661G>C (p.Glu887Asp)
|
rs876659892
|
|
|
NM_000059.4(BRCA2):c.2663A>G (p.Asn888Ser)
|
rs1593897475
|
|
|
NM_000059.4(BRCA2):c.2666A>G (p.Asn889Ser)
|
rs1555282782
|
|
|
NM_000059.4(BRCA2):c.2669T>G (p.Phe890Cys)
|
|
|
|
NM_000059.4(BRCA2):c.2671G>A (p.Val891Ile)
|
rs756951335
|
|
|
NM_000059.4(BRCA2):c.2672T>A (p.Val891Asp)
|
rs1593897497
|
|
|
NM_000059.4(BRCA2):c.2676C>A (p.Phe892Leu)
|
rs398122751
|
|
|
NM_000059.4(BRCA2):c.2679A>G (p.Gln893=)
|
rs786203640
|
|
|
NM_000059.4(BRCA2):c.2683G>A (p.Ala895Thr)
|
rs786203045
|
|
|
NM_000059.4(BRCA2):c.2683G>T (p.Ala895Ser)
|
rs786203045
|
|
|
NM_000059.4(BRCA2):c.2687A>T (p.Asn896Ile)
|
rs2072462890
|
|
|
NM_000059.4(BRCA2):c.2689G>A (p.Glu897Lys)
|
rs979372317
|
|
|
NM_000059.4(BRCA2):c.2689G>C (p.Glu897Gln)
|
rs979372317
|
|
|
NM_000059.4(BRCA2):c.2695A>G (p.Asn899Asp)
|
rs564197624
|
|
|
NM_000059.4(BRCA2):c.2698A>C (p.Asn900His)
|
rs55736268
|
|
|
NM_000059.4(BRCA2):c.2704G>C (p.Ala902Pro)
|
rs768648043
|
|
|
NM_000059.4(BRCA2):c.2704G>T (p.Ala902Ser)
|
rs768648043
|
|
|
NM_000059.4(BRCA2):c.2705C>T (p.Ala902Val)
|
rs749258007
|
|
|
NM_000059.4(BRCA2):c.2714A>G (p.Asn905Ser)
|
rs730881515
|
|
|
NM_000059.4(BRCA2):c.2719A>G (p.Lys907Glu)
|
rs876659600
|
|
|
NM_000059.4(BRCA2):c.2723A>C (p.Glu908Ala)
|
rs786202254
|
|
|
NM_000059.4(BRCA2):c.2725C>A (p.Leu909Ile)
|
rs876660858
|
|
|
NM_000059.4(BRCA2):c.2725C>T (p.Leu909Phe)
|
rs876660858
|
|
|
NM_000059.4(BRCA2):c.2728C>T (p.His910Tyr)
|
rs1555282812
|
|
|
NM_000059.4(BRCA2):c.2731G>C (p.Glu911Gln)
|
rs2072463630
|
|
|
NM_000059.4(BRCA2):c.2735C>T (p.Thr912Ile)
|
rs276174828
|
|
|
NM_000059.4(BRCA2):c.2742G>C (p.Leu914Phe)
|
rs759767392
|
|
|
NM_000059.4(BRCA2):c.2744C>T (p.Thr915Ile)
|
rs786202795
|
|
|
NM_000059.4(BRCA2):c.2747G>A (p.Cys916Tyr)
|
|
|
|
NM_000059.4(BRCA2):c.2749G>A (p.Val917Ile)
|
rs1555282822
|
|
|
NM_000059.4(BRCA2):c.2750T>C (p.Val917Ala)
|
rs2072463944
|
|
|
NM_000059.4(BRCA2):c.2755G>C (p.Glu919Gln)
|
rs431825298
|
|
|
NM_000059.4(BRCA2):c.2758C>A (p.Pro920Thr)
|
rs397507293
|
|
|
NM_000059.4(BRCA2):c.2758C>T (p.Pro920Ser)
|
rs397507293
|
|
|
NM_000059.4(BRCA2):c.2759C>T (p.Pro920Leu)
|
rs1555282835
|
|
|
NM_000059.4(BRCA2):c.2761A>G (p.Ile921Val)
|
rs1555282836
|
|
|
NM_000059.4(BRCA2):c.2765T>G (p.Phe922Cys)
|
rs1555282838
|
|
|
NM_000059.4(BRCA2):c.2777C>A (p.Thr926Asn)
|
|
|
|
NM_000059.4(BRCA2):c.2779A>G (p.Met927Val)
|
rs786201837
|
|
|
NM_000059.4(BRCA2):c.277T>C (p.Ser93Pro)
|
rs776730435
|
|
|
NM_000059.4(BRCA2):c.2791G>A (p.Gly931Arg)
|
rs1555282848
|
|
|
NM_000059.4(BRCA2):c.2792G>A (p.Gly931Glu)
|
rs587781685
|
|
|
NM_000059.4(BRCA2):c.2793A>C (p.Gly931=)
|
rs786201315
|
|
|
NM_000059.4(BRCA2):c.2794G>C (p.Asp932His)
|
rs2137489980
|
|
|
NM_000059.4(BRCA2):c.2795A>G (p.Asp932Gly)
|
rs879255447
|
|
|
NM_000059.4(BRCA2):c.2798C>A (p.Thr933Lys)
|
|
|
|
NM_000059.4(BRCA2):c.2798C>G (p.Thr933Arg)
|
rs276174830
|
|
|
NM_000059.4(BRCA2):c.2798C>T (p.Thr933Ile)
|
rs276174830
|
|
|
NM_000059.4(BRCA2):c.2800G>A (p.Gly934Ser)
|
rs1555282859
|
|
|
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His)
|
rs28897716
|
|
|
NM_000059.4(BRCA2):c.2803G>T (p.Asp935Tyr)
|
rs28897716
|
|
|
NM_000059.4(BRCA2):c.2804A>G (p.Asp935Gly)
|
rs1555282864
|
|
|
NM_000059.4(BRCA2):c.2805T>A (p.Asp935Glu)
|
rs749138071
|
|
|
NM_000059.4(BRCA2):c.2807A>G (p.Lys936Arg)
|
rs786201753
|
|
|
NM_000059.4(BRCA2):c.2810A>C (p.Gln937Pro)
|
rs730881516
|
|
|
NM_000059.4(BRCA2):c.2812G>A (p.Ala938Thr)
|
rs768556548
|
|
|
NM_000059.4(BRCA2):c.2816C>G (p.Thr939Ser)
|
rs1555282879
|
|
|
NM_000059.4(BRCA2):c.2819A>G (p.Gln940Arg)
|
rs1057520249
|
|
|
NM_000059.4(BRCA2):c.2821G>C (p.Val941Leu)
|
rs863224586
|
|
|
NM_000059.4(BRCA2):c.2827A>G (p.Ile943Val)
|
rs397507294
|
|
|
NM_000059.4(BRCA2):c.2828T>C (p.Ile943Thr)
|
rs2137490364
|
|
|
NM_000059.4(BRCA2):c.2835A>C (p.Lys945Asn)
|
rs398122755
|
|
|
NM_000059.4(BRCA2):c.2836G>C (p.Asp946His)
|
rs80358534
|
|
|
NM_000059.4(BRCA2):c.2837A>T (p.Asp946Val)
|
rs55972907
|
|
|
NM_000059.4(BRCA2):c.2838T>A (p.Asp946Glu)
|
rs149753706
|
|
|
NM_000059.4(BRCA2):c.2842G>A (p.Val948Ile)
|
rs1555282901
|
|
|
NM_000059.4(BRCA2):c.2843T>C (p.Val948Ala)
|
rs730881517
|
|
|
NM_000059.4(BRCA2):c.2852T>C (p.Leu951Pro)
|
rs2137490572
|
|
|
NM_000059.4(BRCA2):c.2854G>T (p.Ala952Ser)
|
rs80358536
|
|
|
NM_000059.4(BRCA2):c.2857GAG[1] (p.Glu954del)
|
rs80359360
|
|
|
NM_000059.4(BRCA2):c.2861A>G (p.Glu954Gly)
|
rs1555282915
|
|
|
NM_000059.4(BRCA2):c.2870A>G (p.Asn957Ser)
|
rs1555282918
|
|
|
NM_000059.4(BRCA2):c.2872A>G (p.Ser958Gly)
|
rs80358537
|
|
|
NM_000059.4(BRCA2):c.2872A>T (p.Ser958Cys)
|
|
|
|
NM_000059.4(BRCA2):c.2874T>G (p.Ser958Arg)
|
rs1566227393
|
|
|
NM_000059.4(BRCA2):c.2875G>A (p.Val959Ile)
|
rs1555282921
|
|
|
NM_000059.4(BRCA2):c.2876T>C (p.Val959Ala)
|
|
|
|
NM_000059.4(BRCA2):c.2878A>C (p.Lys960Gln)
|
|
|
|
NM_000059.4(BRCA2):c.2880G>C (p.Lys960Asn)
|
rs55891436
|
|
|
NM_000059.4(BRCA2):c.2882A>G (p.Gln961Arg)
|
|
|
|
NM_000059.4(BRCA2):c.2882A>T (p.Gln961Leu)
|
rs2072467086
|
|
|
NM_000059.4(BRCA2):c.2884C>G (p.His962Asp)
|
|
|
|
NM_000059.4(BRCA2):c.2887A>G (p.Ile963Val)
|
|
|
|
NM_000059.4(BRCA2):c.2892A>T (p.Lys964Asn)
|
rs587778119
|
|
|
NM_000059.4(BRCA2):c.2893A>G (p.Met965Val)
|
rs1555282927
|
|
|
NM_000059.4(BRCA2):c.2896A>G (p.Thr966Ala)
|
|
|
|
NM_000059.4(BRCA2):c.2900T>C (p.Leu967Pro)
|
rs786202161
|
|
|
NM_000059.4(BRCA2):c.2902G>A (p.Gly968Ser)
|
rs2072467550
|
|
|
NM_000059.4(BRCA2):c.2905C>A (p.Gln969Lys)
|
rs886038080
|
|
|
NM_000059.4(BRCA2):c.2906A>G (p.Gln969Arg)
|
rs1555282933
|
|
|
NM_000059.4(BRCA2):c.2908G>C (p.Asp970His)
|
rs397507295
|
|
|
NM_000059.4(BRCA2):c.2909A>G (p.Asp970Gly)
|
rs2072467657
|
|
|
NM_000059.4(BRCA2):c.2911T>A (p.Leu971Ile)
|
rs1555282936
|
|
|
NM_000059.4(BRCA2):c.2918C>G (p.Ser973Trp)
|
rs397507296
|
|
|
NM_000059.4(BRCA2):c.2922C>G (p.Asp974Glu)
|
rs929538989
|
|
|
NM_000059.4(BRCA2):c.2923A>G (p.Ile975Val)
|
rs757213764
|
|
|
NM_000059.4(BRCA2):c.2923A>T (p.Ile975Phe)
|
rs757213764
|
|
|
NM_000059.4(BRCA2):c.2924T>C (p.Ile975Thr)
|
rs398122756
|
|
|
NM_000059.4(BRCA2):c.2924T>G (p.Ile975Ser)
|
rs398122756
|
|
|
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile)
|
rs276174831
|
|
|
NM_000059.4(BRCA2):c.2936T>C (p.Ile979Thr)
|
rs876659200
|
|
|
NM_000059.4(BRCA2):c.2937A>G (p.Ile979Met)
|
rs397507297
|
|
|
NM_000059.4(BRCA2):c.2938G>T (p.Asp980Tyr)
|
rs397507298
|
|
|
NM_000059.4(BRCA2):c.2939A>G (p.Asp980Gly)
|
rs1250767974
|
|
|
NM_000059.4(BRCA2):c.2942A>G (p.Lys981Arg)
|
rs398122757
|
|
|
NM_000059.4(BRCA2):c.2947C>A (p.Pro983Thr)
|
rs587781848
|
|
|
NM_000059.4(BRCA2):c.2951A>G (p.Glu984Gly)
|
rs767964776
|
|
|
NM_000059.4(BRCA2):c.2953A>G (p.Lys985Glu)
|
rs1555282970
|
|
|
NM_000059.4(BRCA2):c.2956A>T (p.Asn986Tyr)
|
rs760142268
|
|
|
NM_000059.4(BRCA2):c.2957A>T (p.Asn986Ile)
|
rs28897718
|
|
|
NM_000059.4(BRCA2):c.2960A>G (p.Asn987Ser)
|
rs2227944
|
|
|
NM_000059.4(BRCA2):c.2963A>C (p.Asp988Ala)
|
rs876659509
|
|
|
NM_000059.4(BRCA2):c.2963A>G (p.Asp988Gly)
|
rs876659509
|
|
|
NM_000059.4(BRCA2):c.2963A>T (p.Asp988Val)
|
rs876659509
|
|
|
NM_000059.4(BRCA2):c.2968A>G (p.Met990Val)
|
rs876660083
|
|
|
NM_000059.4(BRCA2):c.2973C>G (p.Asn991Lys)
|
rs2072469477
|
|
|
NM_000059.4(BRCA2):c.2975A>T (p.Lys992Ile)
|
rs1370517493
|
|
|
NM_000059.4(BRCA2):c.2983G>A (p.Gly995Arg)
|
rs886040457
|
|
|
NM_000059.4(BRCA2):c.2984G>A (p.Gly995Glu)
|
rs397507299
|
|
|
NM_000059.4(BRCA2):c.2984G>C (p.Gly995Ala)
|
rs397507299
|
|
|
NM_000059.4(BRCA2):c.2990T>C (p.Leu997Ser)
|
rs397507649
|
|
|
NM_000059.4(BRCA2):c.2992G>A (p.Gly998Ser)
|
rs777615894
|
|
|
NM_000059.4(BRCA2):c.2998A>C (p.Ile1000Leu)
|
rs1555282999
|
|
|
NM_000059.4(BRCA2):c.2999T>C (p.Ile1000Thr)
|
rs374769365
|
|
|
NM_000059.4(BRCA2):c.299A>C (p.Lys100Thr)
|
rs2072290145
|
|
|
NM_000059.4(BRCA2):c.3000T>G (p.Ile1000Met)
|
rs587780649
|
|
|
NM_000059.4(BRCA2):c.3001T>G (p.Ser1001Ala)
|
rs2137492111
|
|
|
NM_000059.4(BRCA2):c.3007C>A (p.His1003Asn)
|
rs878853565
|
|
|
NM_000059.4(BRCA2):c.3008A>G (p.His1003Arg)
|
rs1555283008
|
|
|
NM_000059.4(BRCA2):c.3009C>A (p.His1003Gln)
|
rs2072470391
|
|
|
NM_000059.4(BRCA2):c.3010A>G (p.Ser1004Gly)
|
rs398122759
|
|
|
NM_000059.4(BRCA2):c.3011G>A (p.Ser1004Asn)
|
rs1593898366
|
|
|
NM_000059.4(BRCA2):c.3012T>G (p.Ser1004Arg)
|
rs1555283009
|
|
|
NM_000059.4(BRCA2):c.3014T>C (p.Phe1005Ser)
|
rs2072470533
|
|
|
NM_000059.4(BRCA2):c.3019G>A (p.Gly1007Ser)
|
rs2137492293
|
|
|
NM_000059.4(BRCA2):c.3020G>T (p.Gly1007Val)
|
rs1566227648
|
|
|
NM_000059.4(BRCA2):c.3023G>T (p.Ser1008Ile)
|
|
|
|
NM_000059.4(BRCA2):c.3025T>C (p.Phe1009Leu)
|
rs2137492339
|
|
|
NM_000059.4(BRCA2):c.3032C>T (p.Thr1011Ile)
|
rs80358548
|
|
|
NM_000059.4(BRCA2):c.3040A>G (p.Asn1014Asp)
|
rs1390034820
|
|
|
NM_000059.4(BRCA2):c.3042T>G (p.Asn1014Lys)
|
rs1593898407
|
|
|
NM_000059.4(BRCA2):c.3044A>C (p.Lys1015Thr)
|
rs1000398743
|
|
|
NM_000059.4(BRCA2):c.3053A>G (p.Lys1018Arg)
|
rs587782855
|
|
|
NM_000059.4(BRCA2):c.3055C>T (p.Leu1019Phe)
|
|
|
|
NM_000059.4(BRCA2):c.3056T>G (p.Leu1019Arg)
|
rs1299627822
|
|
|
NM_000059.4(BRCA2):c.305A>G (p.Lys102Arg)
|
rs80358549
|
|
|
NM_000059.4(BRCA2):c.3061G>C (p.Glu1021Gln)
|
rs1555283020
|
|
|
NM_000059.4(BRCA2):c.3064C>T (p.His1022Tyr)
|
rs765882871
|
|
|
NM_000059.4(BRCA2):c.3065A>G (p.His1022Arg)
|
rs1032226790
|
|
|
NM_000059.4(BRCA2):c.3068A>G (p.Asn1023Ser)
|
rs776196396
|
|
|
NM_000059.4(BRCA2):c.3070A>C (p.Ile1024Leu)
|
rs876659687
|
|
|
NM_000059.4(BRCA2):c.3070A>G (p.Ile1024Val)
|
rs876659687
|
|
|
NM_000059.4(BRCA2):c.3071T>A (p.Ile1024Asn)
|
rs764921920
|
|
|
NM_000059.4(BRCA2):c.3071T>C (p.Ile1024Thr)
|
rs764921920
|
|
|
NM_000059.4(BRCA2):c.3075G>T (p.Lys1025Asn)
|
rs80358551
|
|
|
NM_000059.4(BRCA2):c.3077A>G (p.Lys1026Arg)
|
rs1060502380
|
|
|
NM_000059.4(BRCA2):c.3079A>G (p.Ser1027Gly)
|
|
|
|
NM_000059.4(BRCA2):c.3081C>G (p.Ser1027Arg)
|
|
|
|
NM_000059.4(BRCA2):c.3083A>C (p.Lys1028Thr)
|
|
|
|
NM_000059.4(BRCA2):c.3084A>C (p.Lys1028Asn)
|
rs1555283043
|
|
|
NM_000059.4(BRCA2):c.3085A>C (p.Met1029Leu)
|
rs80358553
|
|
|
NM_000059.4(BRCA2):c.3092T>C (p.Phe1031Ser)
|
rs80358555
|
|
|
NM_000059.4(BRCA2):c.3106G>A (p.Glu1036Lys)
|
rs1060502449
|
|
|
NM_000059.4(BRCA2):c.3106G>C (p.Glu1036Gln)
|
|
|
|
NM_000059.4(BRCA2):c.3107A>T (p.Glu1036Val)
|
rs1555283053
|
|
|
NM_000059.4(BRCA2):c.3109C>A (p.Gln1037Lys)
|
rs80358557
|
|
|
NM_000059.4(BRCA2):c.3110A>G (p.Gln1037Arg)
|
rs1566227808
|
|
|
NM_000059.4(BRCA2):c.3113A>G (p.Tyr1038Cys)
|
rs876659602
|
|
|
NM_000059.4(BRCA2):c.3116C>A (p.Pro1039His)
|
rs867544010
|
|
|
NM_000059.4(BRCA2):c.3119C>A (p.Thr1040Asn)
|
rs587781475
|
|
|
NM_000059.4(BRCA2):c.3119C>T (p.Thr1040Ile)
|
rs587781475
|
|
|
NM_000059.4(BRCA2):c.3121A>G (p.Ser1041Gly)
|
rs876658343
|
|
|
NM_000059.4(BRCA2):c.3122G>C (p.Ser1041Thr)
|
rs276174832
|
|
|
NM_000059.4(BRCA2):c.3128C>G (p.Ala1043Gly)
|
rs1555283059
|
|
|
NM_000059.4(BRCA2):c.3134T>C (p.Val1045Ala)
|
rs1555283061
|
|
|
NM_000059.4(BRCA2):c.3136G>A (p.Glu1046Lys)
|
rs772342691
|
|
|
NM_000059.4(BRCA2):c.3146A>T (p.Asn1049Ile)
|
rs1555283064
|
|
|
NM_000059.4(BRCA2):c.3149C>T (p.Thr1050Ile)
|
rs1010143466
|
|
|
NM_000059.4(BRCA2):c.3152T>C (p.Leu1051Ser)
|
rs778281493
|
|
|
NM_000059.4(BRCA2):c.3153G>C (p.Leu1051Phe)
|
rs1566227877
|
|
|
NM_000059.4(BRCA2):c.3154G>A (p.Ala1052Thr)
|
rs730881520
|
|
|
NM_000059.4(BRCA2):c.3155C>T (p.Ala1052Val)
|
rs1060502453
|
|
|
NM_000059.4(BRCA2):c.3161A>G (p.Asp1054Gly)
|
rs1064793624
|
|
|
NM_000059.4(BRCA2):c.3165T>G (p.Asn1055Lys)
|
rs1064793384
|
|
|
NM_000059.4(BRCA2):c.3166C>G (p.Gln1056Glu)
|
rs79728106
|
|
|
NM_000059.4(BRCA2):c.3169A>C (p.Lys1057Gln)
|
rs1566227924
|
|
|
NM_000059.4(BRCA2):c.3170A>G (p.Lys1057Arg)
|
rs80358562
|
|
|
NM_000059.4(BRCA2):c.3172A>C (p.Lys1058Gln)
|
rs730881521
|
|
|
NM_000059.4(BRCA2):c.3180C>A (p.Ser1060Arg)
|
rs786203536
|
|
|
NM_000059.4(BRCA2):c.3180C>G (p.Ser1060Arg)
|
rs786203536
|
|
|
NM_000059.4(BRCA2):c.3184C>G (p.Pro1062Ala)
|
rs1555283083
|
|
|
NM_000059.4(BRCA2):c.3184C>T (p.Pro1062Ser)
|
rs1555283083
|
|
|
NM_000059.4(BRCA2):c.3185C>G (p.Pro1062Arg)
|
rs564316199
|
|
|
NM_000059.4(BRCA2):c.3188A>C (p.Gln1063Pro)
|
rs775030825
|
|
|
NM_000059.4(BRCA2):c.3197A>G (p.Asn1066Ser)
|
rs762752733
|
|
|
NM_000059.4(BRCA2):c.3197A>T (p.Asn1066Ile)
|
rs762752733
|
|
|
NM_000059.4(BRCA2):c.3199A>G (p.Thr1067Ala)
|
rs786203711
|
|
|
NM_000059.4(BRCA2):c.3200C>G (p.Thr1067Ser)
|
rs1555283092
|
|
|
NM_000059.4(BRCA2):c.3200C>T (p.Thr1067Ile)
|
rs1555283092
|
|
|
NM_000059.4(BRCA2):c.3203T>C (p.Val1068Ala)
|
|
|
|
NM_000059.4(BRCA2):c.3203T>G (p.Val1068Gly)
|
|
|
|
NM_000059.4(BRCA2):c.3208G>A (p.Ala1070Thr)
|
rs372433502
|
|
|
NM_000059.4(BRCA2):c.3209C>T (p.Ala1070Val)
|
|
|
|
NM_000059.4(BRCA2):c.3211C>G (p.His1071Asp)
|
rs80358564
|
|
|
NM_000059.4(BRCA2):c.3212A>G (p.His1071Arg)
|
rs80358565
|
|
|
NM_000059.4(BRCA2):c.3219G>T (p.Gln1073His)
|
|
|
|
NM_000059.4(BRCA2):c.3220A>G (p.Ser1074Gly)
|
rs145605603
|
|
|
NM_000059.4(BRCA2):c.3224G>T (p.Ser1075Ile)
|
|
|
|
NM_000059.4(BRCA2):c.3226G>A (p.Val1076Ile)
|
rs431825304
|
|
|
NM_000059.4(BRCA2):c.3235T>G (p.Ser1079Ala)
|
rs1593898984
|
|
|
NM_000059.4(BRCA2):c.3236C>A (p.Ser1079Tyr)
|
|
|
|
NM_000059.4(BRCA2):c.3241T>C (p.Cys1081Arg)
|
rs1555283117
|
|
|
NM_000059.4(BRCA2):c.3241T>G (p.Cys1081Gly)
|
rs1555283117
|
|
|
NM_000059.4(BRCA2):c.3242G>A (p.Cys1081Tyr)
|
rs752871893
|
|
|
NM_000059.4(BRCA2):c.3252T>G (p.Ser1084Arg)
|
rs1060502412
|
|
|
NM_000059.4(BRCA2):c.3253C>T (p.His1085Tyr)
|
rs2137494760
|
|
|
NM_000059.4(BRCA2):c.3260C>A (p.Thr1087Asn)
|
|
|
|
NM_000059.4(BRCA2):c.3260C>T (p.Thr1087Ile)
|
rs1555283123
|
|
|
NM_000059.4(BRCA2):c.3263C>A (p.Pro1088His)
|
|
|
|
NM_000059.4(BRCA2):c.3263C>T (p.Pro1088Leu)
|
rs876660365
|
|
|
NM_000059.4(BRCA2):c.3266A>G (p.Gln1089Arg)
|
|
|
|
NM_000059.4(BRCA2):c.3270G>A (p.Met1090Ile)
|
rs80358574
|
|
|
NM_000059.4(BRCA2):c.3270G>C (p.Met1090Ile)
|
rs80358574
|
|
|
NM_000059.4(BRCA2):c.3273A>C (p.Leu1091Phe)
|
rs1566228204
|
|
|
NM_000059.4(BRCA2):c.3274T>C (p.Phe1092Leu)
|
rs1566228206
|
|
|
NM_000059.4(BRCA2):c.3278C>A (p.Ser1093Tyr)
|
|
|
|
NM_000059.4(BRCA2):c.3281A>G (p.Lys1094Arg)
|
rs876659782
|
|
|
NM_000059.4(BRCA2):c.3286G>C (p.Asp1096His)
|
rs876660870
|
|
|
NM_000059.4(BRCA2):c.3286G>T (p.Asp1096Tyr)
|
rs876660870
|
|
|
NM_000059.4(BRCA2):c.3296C>T (p.Ser1099Leu)
|
rs397507663
|
|
|
NM_000059.4(BRCA2):c.3300C>A (p.Asn1100Lys)
|
rs1555283155
|
|
|
NM_000059.4(BRCA2):c.3301C>T (p.His1101Tyr)
|
rs80358576
|
|
|
NM_000059.4(BRCA2):c.3303T>A (p.His1101Gln)
|
|
|
|
NM_000059.4(BRCA2):c.3304A>C (p.Asn1102His)
|
rs28897719
|
|
|
NM_000059.4(BRCA2):c.3311C>T (p.Thr1104Ile)
|
rs1566228273
|
|
|
NM_000059.4(BRCA2):c.3317G>A (p.Ser1106Asn)
|
rs876660591
|
|
|
NM_000059.4(BRCA2):c.3317G>T (p.Ser1106Ile)
|
|
|
|
NM_000059.4(BRCA2):c.3318C>G (p.Ser1106Arg)
|
rs1298550035
|
|
|
NM_000059.4(BRCA2):c.3320A>C (p.Gln1107Pro)
|
rs1593899174
|
|
|
NM_000059.4(BRCA2):c.3321A>C (p.Gln1107His)
|
rs397507306
|
|
|
NM_000059.4(BRCA2):c.3324G>C (p.Lys1108Asn)
|
|
|
|
NM_000059.4(BRCA2):c.3324G>T (p.Lys1108Asn)
|
rs1555283170
|
|
|
NM_000059.4(BRCA2):c.3325G>A (p.Ala1109Thr)
|
rs752886421
|
|
|
NM_000059.4(BRCA2):c.3329A>C (p.Glu1110Ala)
|
rs587782072
|
|
|
NM_000059.4(BRCA2):c.3329A>G (p.Glu1110Gly)
|
rs587782072
|
|
|
NM_000059.4(BRCA2):c.3330A>G (p.Glu1110=)
|
rs369294255
|
|
|
NM_000059.4(BRCA2):c.3332T>C (p.Ile1111Thr)
|
rs1593899223
|
|
|
NM_000059.4(BRCA2):c.3333T>G (p.Ile1111Met)
|
|
|
|
NM_000059.4(BRCA2):c.3337G>A (p.Glu1113Lys)
|
rs1482364471
|
|
|
NM_000059.4(BRCA2):c.3337G>C (p.Glu1113Gln)
|
|
|
|
NM_000059.4(BRCA2):c.3338A>T (p.Glu1113Val)
|
rs1593899249
|
|
|
NM_000059.4(BRCA2):c.3340C>G (p.Leu1114Val)
|
|
|
|
NM_000059.4(BRCA2):c.3343T>C (p.Ser1115Pro)
|
rs1204868565
|
|
|
NM_000059.4(BRCA2):c.3344C>A (p.Ser1115Tyr)
|
rs879255448
|
|
|
NM_000059.4(BRCA2):c.3344C>T (p.Ser1115Phe)
|
|
|
|
NM_000059.4(BRCA2):c.3346A>C (p.Thr1116Pro)
|
rs786204212
|
|
|
NM_000059.4(BRCA2):c.3346A>G (p.Thr1116Ala)
|
rs786204212
|
|
|
NM_000059.4(BRCA2):c.3349A>G (p.Ile1117Val)
|
rs397507307
|
|
|
NM_000059.4(BRCA2):c.3351A>G (p.Ile1117Met)
|
rs730881522
|
|
|
NM_000059.4(BRCA2):c.3360A>C (p.Glu1120Asp)
|
rs2137495828
|
|
|
NM_000059.4(BRCA2):c.3361T>C (p.Ser1121Pro)
|
rs1555283195
|
|
|
NM_000059.4(BRCA2):c.3362C>T (p.Ser1121Leu)
|
rs80358579
|
|
|
NM_000059.4(BRCA2):c.3367A>G (p.Ser1123Gly)
|
rs80358581
|
|
|
NM_000059.4(BRCA2):c.3368G>A (p.Ser1123Asn)
|
rs1555283202
|
|
|
NM_000059.4(BRCA2):c.3368G>C (p.Ser1123Thr)
|
rs1555283202
|
|
|
NM_000059.4(BRCA2):c.3371A>G (p.Gln1124Arg)
|
rs1555283204
|
|
|
NM_000059.4(BRCA2):c.3375T>A (p.Phe1125Leu)
|
rs1593899361
|
|
|
NM_000059.4(BRCA2):c.3377A>C (p.Glu1126Ala)
|
rs1593899368
|
|
|
NM_000059.4(BRCA2):c.3379T>C (p.Phe1127Leu)
|
rs1566228395
|
|
|
NM_000059.4(BRCA2):c.3382A>G (p.Thr1128Ala)
|
rs730881523
|
|
|
NM_000059.4(BRCA2):c.3383C>T (p.Thr1128Ile)
|
rs786202970
|
|
|
NM_000059.4(BRCA2):c.3387G>T (p.Gln1129His)
|
rs1555283211
|
|
|
NM_000059.4(BRCA2):c.338G>A (p.Arg113Lys)
|
rs876659161
|
|
|
NM_000059.4(BRCA2):c.3392G>A (p.Arg1131Lys)
|
rs1555283214
|
|
|
NM_000059.4(BRCA2):c.3395_3396delinsGG (p.Lys1132Arg)
|
rs1060502496
|
|
|
NM_000059.4(BRCA2):c.3397C>T (p.Pro1133Ser)
|
rs786202430
|
|
|
NM_000059.4(BRCA2):c.3398C>G (p.Pro1133Arg)
|
|
|
|
NM_000059.4(BRCA2):c.3398C>T (p.Pro1133Leu)
|
rs1170876773
|
|
|
NM_000059.4(BRCA2):c.3403T>G (p.Tyr1135Asp)
|
rs80358583
|
|
|
NM_000059.4(BRCA2):c.3404A>G (p.Tyr1135Cys)
|
rs2072479515
|
|
|
NM_000059.4(BRCA2):c.3406A>G (p.Ile1136Val)
|
rs876658683
|
|
|
NM_000059.4(BRCA2):c.3406A>T (p.Ile1136Leu)
|
rs876658683
|
|
|
NM_000059.4(BRCA2):c.3413A>T (p.Gln1138Leu)
|
rs80358584
|
|
|
NM_000059.4(BRCA2):c.3420T>A (p.Ser1140Arg)
|
rs118093942
|
|
|
NM_000059.4(BRCA2):c.3422C>T (p.Thr1141Ile)
|
rs397507308
|
|
|
NM_000059.4(BRCA2):c.3426T>A (p.Phe1142Leu)
|
rs760681272
|
|
|
NM_000059.4(BRCA2):c.3433C>G (p.Pro1145Ala)
|
rs1555283232
|
|
|
NM_000059.4(BRCA2):c.3433C>T (p.Pro1145Ser)
|
rs1555283232
|
|
|
NM_000059.4(BRCA2):c.3434C>T (p.Pro1145Leu)
|
rs431825306
|
|
|
NM_000059.4(BRCA2):c.3436G>A (p.Glu1146Lys)
|
|
|
|
NM_000059.4(BRCA2):c.3437A>G (p.Glu1146Gly)
|
rs80358588
|
|
|
NM_000059.4(BRCA2):c.3437A>T (p.Glu1146Val)
|
rs80358588
|
|
|
NM_000059.4(BRCA2):c.3443A>G (p.Gln1148Arg)
|
rs200808363
|
|
|
NM_000059.4(BRCA2):c.3444G>C (p.Gln1148His)
|
rs1555283240
|
|
|
NM_000059.4(BRCA2):c.3445A>T (p.Met1149Leu)
|
rs80358589
|
|
|
NM_000059.4(BRCA2):c.3446T>C (p.Met1149Thr)
|
rs80358590
|
|
|
NM_000059.4(BRCA2):c.3447G>A (p.Met1149Ile)
|
rs876660471
|
|
|
NM_000059.4(BRCA2):c.3449C>G (p.Thr1150Ser)
|
rs730881524
|
|
|
NM_000059.4(BRCA2):c.3458A>G (p.Lys1153Arg)
|
rs80358594
|
|
|
NM_000059.4(BRCA2):c.3460A>G (p.Thr1154Ala)
|
rs1555283255
|
|
|
NM_000059.4(BRCA2):c.3460A>T (p.Thr1154Ser)
|
rs1555283255
|
|
|
NM_000059.4(BRCA2):c.3461C>T (p.Thr1154Ile)
|
rs786202212
|
|
|
NM_000059.4(BRCA2):c.3463A>C (p.Thr1155Pro)
|
rs1555283257
|
|
|
NM_000059.4(BRCA2):c.3464C>G (p.Thr1155Ser)
|
rs1406283407
|
|
|
NM_000059.4(BRCA2):c.3475T>C (p.Cys1159Arg)
|
rs886037814
|
|
|
NM_000059.4(BRCA2):c.3476G>T (p.Cys1159Phe)
|
|
|
|
NM_000059.4(BRCA2):c.3484G>A (p.Ala1162Thr)
|
rs878853570
|
|
|
NM_000059.4(BRCA2):c.3485C>T (p.Ala1162Val)
|
rs587778122
|
|
|
NM_000059.4(BRCA2):c.3489T>A (p.Asp1163Glu)
|
rs1555283263
|
|
|
NM_000059.4(BRCA2):c.3493C>T (p.His1165Tyr)
|
|
|
|
NM_000059.4(BRCA2):c.3494A>T (p.His1165Leu)
|
rs587782201
|
|
|
NM_000059.4(BRCA2):c.3496G>A (p.Val1166Ile)
|
rs80358596
|
|
|
NM_000059.4(BRCA2):c.3497T>A (p.Val1166Asp)
|
rs762886975
|
|
|
NM_000059.4(BRCA2):c.3497T>C (p.Val1166Ala)
|
rs762886975
|
|
|
NM_000059.4(BRCA2):c.3499A>G (p.Ile1167Val)
|
rs276174834
|
|
|
NM_000059.4(BRCA2):c.3501A>G (p.Ile1167Met)
|
rs1593899752
|
|
|
NM_000059.4(BRCA2):c.3502A>G (p.Met1168Val)
|
|
|
|
NM_000059.4(BRCA2):c.3503T>A (p.Met1168Lys)
|
rs80358598
|
|
|
NM_000059.4(BRCA2):c.3503T>C (p.Met1168Thr)
|
rs80358598
|
|
|
NM_000059.4(BRCA2):c.3506A>C (p.Asn1169Thr)
|
rs1194031580
|
|
|
NM_000059.4(BRCA2):c.3506A>G (p.Asn1169Ser)
|
rs1194031580
|
|
|
NM_000059.4(BRCA2):c.3508G>A (p.Ala1170Thr)
|
rs2072482404
|
|
|
NM_000059.4(BRCA2):c.3511C>T (p.Pro1171Ser)
|
|
|
|
NM_000059.4(BRCA2):c.3512C>T (p.Pro1171Leu)
|
rs1566228707
|
|
|
NM_000059.4(BRCA2):c.3515C>G (p.Ser1172Trp)
|
rs80358600
|
|
|
NM_000059.4(BRCA2):c.3517A>G (p.Ile1173Val)
|
rs431825308
|
|
|
NM_000059.4(BRCA2):c.3518T>C (p.Ile1173Thr)
|
rs398122767
|
|
|
NM_000059.4(BRCA2):c.3521G>A (p.Gly1174Asp)
|
rs1555283272
|
|
|
NM_000059.4(BRCA2):c.3521G>T (p.Gly1174Val)
|
rs1555283272
|
|
|
NM_000059.4(BRCA2):c.3523C>G (p.Gln1175Glu)
|
|
|
|
NM_000059.4(BRCA2):c.3529G>A (p.Asp1177Asn)
|
rs1060502397
|
|
|
NM_000059.4(BRCA2):c.3530A>C (p.Asp1177Ala)
|
rs761130568
|
|
|
NM_000059.4(BRCA2):c.3532A>G (p.Ser1178Gly)
|
rs41293481
|
|
|
NM_000059.4(BRCA2):c.3538A>G (p.Lys1180Glu)
|
|
|
|
NM_000059.4(BRCA2):c.3540G>C (p.Lys1180Asn)
|
rs864622363
|
|
|
NM_000059.4(BRCA2):c.3547G>C (p.Glu1183Gln)
|
rs1566228768
|
|
|
NM_000059.4(BRCA2):c.3550G>T (p.Gly1184Cys)
|
rs1593899860
|
|
|
NM_000059.4(BRCA2):c.3551G>A (p.Gly1184Asp)
|
|
|
|
NM_000059.4(BRCA2):c.3551G>C (p.Gly1184Ala)
|
rs431825309
|
|
|
NM_000059.4(BRCA2):c.3553A>G (p.Thr1185Ala)
|
rs786202485
|
|
|
NM_000059.4(BRCA2):c.3556G>A (p.Val1186Ile)
|
rs587782420
|
|
|
NM_000059.4(BRCA2):c.3560A>C (p.Glu1187Ala)
|
|
|
|
NM_000059.4(BRCA2):c.3566A>C (p.Lys1189Thr)
|
rs2072483773
|
|
|
NM_000059.4(BRCA2):c.3569G>A (p.Arg1190Gln)
|
rs80358605
|
|
|
NM_000059.4(BRCA2):c.3572A>G (p.Lys1191Arg)
|
rs1555283292
|
|
|
NM_000059.4(BRCA2):c.3577G>A (p.Ala1193Thr)
|
rs1555283297
|
|
|
NM_000059.4(BRCA2):c.3577G>T (p.Ala1193Ser)
|
rs1555283297
|
|
|
NM_000059.4(BRCA2):c.3578C>T (p.Ala1193Val)
|
rs431825310
|
|
|
NM_000059.4(BRCA2):c.3580G>A (p.Gly1194Ser)
|
rs2137498023
|
|
|
NM_000059.4(BRCA2):c.3586T>A (p.Leu1196Met)
|
rs1449762196
|
|
|
NM_000059.4(BRCA2):c.3589A>G (p.Lys1197Glu)
|
|
|
|
NM_000059.4(BRCA2):c.3593A>G (p.Asn1198Ser)
|
rs780927790
|
|
|
NM_000059.4(BRCA2):c.3595G>A (p.Asp1199Asn)
|
rs1060502404
|
|
|
NM_000059.4(BRCA2):c.3595G>T (p.Asp1199Tyr)
|
rs1060502404
|
|
|
NM_000059.4(BRCA2):c.3598T>G (p.Cys1200Gly)
|
rs80358607
|
|
|
NM_000059.4(BRCA2):c.3599G>C (p.Cys1200Ser)
|
rs1555283305
|
|
|
NM_000059.4(BRCA2):c.3604A>G (p.Lys1202Glu)
|
|
|
|
NM_000059.4(BRCA2):c.3608G>A (p.Ser1203Asn)
|
rs745817393
|
|
|
NM_000059.4(BRCA2):c.3610G>A (p.Ala1204Thr)
|
rs1555283309
|
|
|
NM_000059.4(BRCA2):c.3610G>T (p.Ala1204Ser)
|
rs1555283309
|
|
|
NM_000059.4(BRCA2):c.3611C>T (p.Ala1204Val)
|
rs1566228843
|
|
|
NM_000059.4(BRCA2):c.3620A>G (p.Tyr1207Cys)
|
rs397507310
|
|
|
NM_000059.4(BRCA2):c.3622T>A (p.Leu1208Ile)
|
rs80358608
|
|
|
NM_000059.4(BRCA2):c.3623T>C (p.Leu1208Ser)
|
rs1555283314
|
|
|
NM_000059.4(BRCA2):c.3630T>G (p.Asp1210Glu)
|
rs786202991
|
|
|
NM_000059.4(BRCA2):c.3635A>G (p.Asn1212Ser)
|
rs80358609
|
|
|
NM_000059.4(BRCA2):c.3636T>G (p.Asn1212Lys)
|
rs1555283324
|
|
|
NM_000059.4(BRCA2):c.3638A>G (p.Glu1213Gly)
|
rs1566228880
|
|
|
NM_000059.4(BRCA2):c.3649A>T (p.Arg1217Trp)
|
rs1410046826
|
|
|
NM_000059.4(BRCA2):c.3653G>C (p.Gly1218Ala)
|
rs879254128
|
|
|
NM_000059.4(BRCA2):c.3655T>C (p.Phe1219Leu)
|
rs80358610
|
|
|
NM_000059.4(BRCA2):c.3655T>G (p.Phe1219Val)
|
rs80358610
|
|
|
NM_000059.4(BRCA2):c.3656T>C (p.Phe1219Ser)
|
rs1555283341
|
|
|
NM_000059.4(BRCA2):c.3662C>A (p.Ser1221Tyr)
|
rs397507313
|
|
|
NM_000059.4(BRCA2):c.3664G>C (p.Ala1222Pro)
|
|
|
|
NM_000059.4(BRCA2):c.3664G>T (p.Ala1222Ser)
|
rs1555283343
|
|
|
NM_000059.4(BRCA2):c.3670G>A (p.Gly1224Ser)
|
rs2137498845
|
|
|
NM_000059.4(BRCA2):c.3674C>A (p.Thr1225Lys)
|
rs1490822985
|
|
|
NM_000059.4(BRCA2):c.3676A>C (p.Lys1226Gln)
|
rs730881525
|
|
|
NM_000059.4(BRCA2):c.3677A>T (p.Lys1226Ile)
|
rs80358612
|
|
|
NM_000059.4(BRCA2):c.3679C>G (p.Leu1227Val)
|
rs1566228950
|
|
|
NM_000059.4(BRCA2):c.3680T>C (p.Leu1227Pro)
|
rs1593900195
|
|
|
NM_000059.4(BRCA2):c.3683A>G (p.Asn1228Ser)
|
rs786202838
|
|
|
NM_000059.4(BRCA2):c.3683A>T (p.Asn1228Ile)
|
rs786202838
|
|
|
NM_000059.4(BRCA2):c.3685G>A (p.Val1229Ile)
|
rs786203538
|
|
|
NM_000059.4(BRCA2):c.3688T>G (p.Ser1230Ala)
|
rs876659979
|
|
|
NM_000059.4(BRCA2):c.3689C>T (p.Ser1230Phe)
|
|
|
|
NM_000059.4(BRCA2):c.3700C>A (p.Leu1234Met)
|
rs431825311
|
|
|
NM_000059.4(BRCA2):c.3704A>G (p.Gln1235Arg)
|
rs1060502424
|
|
|
NM_000059.4(BRCA2):c.3706A>G (p.Lys1236Glu)
|
rs1555283367
|
|
|
NM_000059.4(BRCA2):c.3710C>T (p.Ala1237Val)
|
|
|
|
NM_000059.4(BRCA2):c.3713T>C (p.Val1238Ala)
|
rs1566229025
|
|
|
NM_000059.4(BRCA2):c.3718C>A (p.Leu1240Met)
|
|
|
|
NM_000059.4(BRCA2):c.3719T>C (p.Leu1240Pro)
|
rs1593900306
|
|
|
NM_000059.4(BRCA2):c.3719_3720delinsAC (p.Leu1240His)
|
rs1593900310
|
|
|
NM_000059.4(BRCA2):c.3723T>G (p.Phe1241Leu)
|
rs587782723
|
|
|
NM_000059.4(BRCA2):c.3725G>A (p.Ser1242Asn)
|
rs1555283378
|
|
|
NM_000059.4(BRCA2):c.3730A>G (p.Ile1244Val)
|
rs786202091
|
|
|
NM_000059.4(BRCA2):c.3737A>C (p.Asn1246Thr)
|
rs876660679
|
|
|
NM_000059.4(BRCA2):c.3737A>G (p.Asn1246Ser)
|
rs876660679
|
|
|
NM_000059.4(BRCA2):c.3737A>T (p.Asn1246Ile)
|
rs876660679
|
|
|
NM_000059.4(BRCA2):c.3742A>C (p.Ser1248Arg)
|
rs80358614
|
|
|
NM_000059.4(BRCA2):c.3743G>A (p.Ser1248Asn)
|
|
|
|
NM_000059.4(BRCA2):c.3745G>A (p.Glu1249Lys)
|
|
|
|
NM_000059.4(BRCA2):c.3748G>A (p.Glu1250Lys)
|
rs80358615
|
|
|
NM_000059.4(BRCA2):c.3749A>T (p.Glu1250Val)
|
rs56400215
|
|
|
NM_000059.4(BRCA2):c.3755C>A (p.Ser1252Tyr)
|
rs1361496246
|
|
|
NM_000059.4(BRCA2):c.3762G>T (p.Glu1254Asp)
|
rs777028631
|
|
|
NM_000059.4(BRCA2):c.3763G>A (p.Val1255Ile)
|
rs80358617
|
|
|
NM_000059.4(BRCA2):c.3763G>T (p.Val1255Leu)
|
rs80358617
|
|
|
NM_000059.4(BRCA2):c.3767A>G (p.His1256Arg)
|
rs80358618
|
|
|
NM_000059.4(BRCA2):c.3768T>A (p.His1256Gln)
|
rs1566229121
|
|
|
NM_000059.4(BRCA2):c.3769C>G (p.Pro1257Ala)
|
rs1060502438
|
|
|
NM_000059.4(BRCA2):c.3769C>T (p.Pro1257Ser)
|
rs1060502438
|
|
|
NM_000059.4(BRCA2):c.3770C>T (p.Pro1257Leu)
|
rs587782581
|
|
|
NM_000059.4(BRCA2):c.3772A>G (p.Ile1258Val)
|
rs587782720
|
|
|
NM_000059.4(BRCA2):c.3775A>C (p.Ser1259Arg)
|
rs587782071
|
|
|
NM_000059.4(BRCA2):c.3777T>A (p.Ser1259Arg)
|
|
|
|
NM_000059.4(BRCA2):c.3782C>T (p.Ser1261Phe)
|
|
|
|
NM_000059.4(BRCA2):c.3785C>T (p.Ser1262Leu)
|
rs80358620
|
|
|
NM_000059.4(BRCA2):c.3786A>T (p.Ser1262=)
|
rs1042077901
|
|
|
NM_000059.4(BRCA2):c.3788G>A (p.Ser1263Asn)
|
rs1555283398
|
|
|
NM_000059.4(BRCA2):c.3794G>A (p.Cys1265Tyr)
|
rs397507315
|
|
|
NM_000059.4(BRCA2):c.3794G>C (p.Cys1265Ser)
|
rs397507315
|
|
|
NM_000059.4(BRCA2):c.3797A>G (p.His1266Arg)
|
rs1555283399
|
|
|
NM_000059.4(BRCA2):c.379G>T (p.Ala127Ser)
|
rs80358621
|
|
|
NM_000059.4(BRCA2):c.3800A>G (p.Asp1267Gly)
|
rs1555283400
|
|
|
NM_000059.4(BRCA2):c.3802T>C (p.Ser1268Pro)
|
|
|
|
NM_000059.4(BRCA2):c.3803C>T (p.Ser1268Phe)
|
rs876659620
|
|
|
NM_000059.4(BRCA2):c.3807_3808inv (p.Val1270Ile)
|
|
|
|
NM_000059.4(BRCA2):c.3808G>A (p.Val1270Ile)
|
rs876658938
|
|
|
NM_000059.4(BRCA2):c.3808G>T (p.Val1270Phe)
|
rs876658938
|
|
|
NM_000059.4(BRCA2):c.3809T>C (p.Val1270Ala)
|
rs1555283403
|
|
|
NM_000059.4(BRCA2):c.3816G>A (p.Met1272Ile)
|
rs1469541725
|
|
|
NM_000059.4(BRCA2):c.3824T>C (p.Ile1275Thr)
|
rs80358625
|
|
|
NM_000059.4(BRCA2):c.3826G>A (p.Glu1276Lys)
|
rs878853575
|
|
|
NM_000059.4(BRCA2):c.3827A>G (p.Glu1276Gly)
|
rs1060502487
|
|
|
NM_000059.4(BRCA2):c.3832C>A (p.His1278Asn)
|
rs1555283417
|
|
|
NM_000059.4(BRCA2):c.3836A>G (p.Asn1279Ser)
|
rs1060502384
|
|
|
NM_000059.4(BRCA2):c.3842A>C (p.Lys1281Thr)
|
|
|
|
NM_000059.4(BRCA2):c.3845C>T (p.Thr1282Ile)
|
rs1555283423
|
|
|
NM_000059.4(BRCA2):c.3847G>A (p.Val1283Ile)
|
rs754974533
|
|
|
NM_000059.4(BRCA2):c.3848T>C (p.Val1283Ala)
|
rs80358628
|
|
|
NM_000059.4(BRCA2):c.3852T>A (p.Ser1284Arg)
|
rs777895333
|
|
|
NM_000059.4(BRCA2):c.3858A>C (p.Lys1286Asn)
|
|
|
|
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del)
|
rs80359406
|
|
|
NM_000059.4(BRCA2):c.3859A>T (p.Asn1287Tyr)
|
rs1566229283
|
|
|
NM_000059.4(BRCA2):c.3863A>T (p.Asn1288Ile)
|
rs80358630
|
|
|
NM_000059.4(BRCA2):c.3869G>T (p.Cys1290Phe)
|
rs41293485
|
|
|
NM_000059.4(BRCA2):c.3877A>C (p.Ile1293Leu)
|
rs876659799
|
|
|
NM_000059.4(BRCA2):c.3885A>G (p.Gln1295=)
|
rs876659864
|
|
|
NM_000059.4(BRCA2):c.3887A>G (p.Asn1296Ser)
|
|
|
|
NM_000059.4(BRCA2):c.3890A>G (p.Asn1297Ser)
|
|
|
|
NM_000059.4(BRCA2):c.3891T>A (p.Asn1297Lys)
|
rs1555283450
|
|
|
NM_000059.4(BRCA2):c.3893T>A (p.Ile1298Asn)
|
rs80358633
|
|
|
NM_000059.4(BRCA2):c.3893T>G (p.Ile1298Ser)
|
rs80358633
|
|
|
NM_000059.4(BRCA2):c.3894T>G (p.Ile1298Met)
|
rs41293487
|
|
|
NM_000059.4(BRCA2):c.3900G>A (p.Met1300Ile)
|
rs876659209
|
|
|
NM_000059.4(BRCA2):c.3902C>T (p.Thr1301Ile)
|
rs1455648880
|
|
|
NM_000059.4(BRCA2):c.3908G>A (p.Gly1303Asp)
|
rs587782645
|
|
|
NM_000059.4(BRCA2):c.3909C>A (p.Gly1303=)
|
rs80359786
|
|
|
NM_000059.4(BRCA2):c.3911C>G (p.Thr1304Ser)
|
rs1555283472
|
|
|
NM_000059.4(BRCA2):c.3920A>G (p.Glu1307Gly)
|
rs1593900916
|
|
|
NM_000059.4(BRCA2):c.3922G>C (p.Glu1308Gln)
|
rs80358638
|
|
|
NM_000059.4(BRCA2):c.3923A>C (p.Glu1308Ala)
|
rs2137501297
|
|
|
NM_000059.4(BRCA2):c.3926T>C (p.Ile1309Thr)
|
rs1566229403
|
|
|
NM_000059.4(BRCA2):c.3928A>G (p.Thr1310Ala)
|
|
|
|
NM_000059.4(BRCA2):c.3929C>T (p.Thr1310Ile)
|
rs730881528
|
|
|
NM_000059.4(BRCA2):c.3932A>G (p.Glu1311Gly)
|
rs1593900953
|
|
|
NM_000059.4(BRCA2):c.3937T>G (p.Tyr1313Asp)
|
|
|
|
NM_000059.4(BRCA2):c.3941A>G (p.Lys1314Arg)
|
rs1344698119
|
|
|
NM_000059.4(BRCA2):c.3947A>G (p.Asn1316Ser)
|
rs1593900994
|
|
|
NM_000059.4(BRCA2):c.3949A>T (p.Thr1317Ser)
|
rs398122773
|
|
|
NM_000059.4(BRCA2):c.3952G>A (p.Glu1318Lys)
|
|
|
|
NM_000059.4(BRCA2):c.3958G>A (p.Glu1320Lys)
|
rs80358644
|
|
|
NM_000059.4(BRCA2):c.3960A>C (p.Glu1320Asp)
|
|
|
|
NM_000059.4(BRCA2):c.3965A>C (p.Asn1322Thr)
|
rs80358646
|
|
|
NM_000059.4(BRCA2):c.3965A>G (p.Asn1322Ser)
|
rs80358646
|
|
|
NM_000059.4(BRCA2):c.3966C>T (p.Asn1322=)
|
rs80358647
|
|
|
NM_000059.4(BRCA2):c.3966_3968del (p.Asn1322del)
|
rs397507319
|
|
|
NM_000059.4(BRCA2):c.3967A>C (p.Lys1323Gln)
|
|
|
|
NM_000059.4(BRCA2):c.3968A>G (p.Lys1323Arg)
|
rs1593901051
|
|
|
NM_000059.4(BRCA2):c.3970T>C (p.Tyr1324His)
|
rs879254067
|
|
|
NM_000059.4(BRCA2):c.3974C>T (p.Thr1325Ile)
|
rs1593901084
|
|
|
NM_000059.4(BRCA2):c.3979G>T (p.Ala1327Ser)
|
rs1566229476
|
|
|
NM_000059.4(BRCA2):c.3982A>T (p.Ser1328Cys)
|
rs1566229480
|
|
|
NM_000059.4(BRCA2):c.3983G>C (p.Ser1328Thr)
|
rs753690365
|
|
|
NM_000059.4(BRCA2):c.3985A>G (p.Arg1329Gly)
|
rs587782718
|
|
|
NM_000059.4(BRCA2):c.3986G>C (p.Arg1329Thr)
|
rs1566229484
|
|
|
NM_000059.4(BRCA2):c.3986G>T (p.Arg1329Ile)
|
|
|
|
NM_000059.4(BRCA2):c.3987A>T (p.Arg1329Ser)
|
rs786203361
|
|
|
NM_000059.4(BRCA2):c.3989A>G (p.Asn1330Ser)
|
rs1057520792
|
|
|
NM_000059.4(BRCA2):c.3994C>G (p.His1332Asp)
|
rs863224588
|
|
|
NM_000059.4(BRCA2):c.3994C>T (p.His1332Tyr)
|
rs863224588
|
|
|
NM_000059.4(BRCA2):c.3995A>G (p.His1332Arg)
|
rs398122774
|
|
|
NM_000059.4(BRCA2):c.3999C>G (p.Asn1333Lys)
|
rs80358649
|
|
|
NM_000059.4(BRCA2):c.4007T>A (p.Phe1336Tyr)
|
|
|
|
NM_000059.4(BRCA2):c.4010A>C (p.Asp1337Ala)
|
|
|
|
NM_000059.4(BRCA2):c.4012G>A (p.Gly1338Ser)
|
rs1555283503
|
|
|
NM_000059.4(BRCA2):c.4013G>T (p.Gly1338Val)
|
|
|
|
NM_000059.4(BRCA2):c.4016G>T (p.Ser1339Ile)
|
|
|
|
NM_000059.4(BRCA2):c.4019A>C (p.Asp1340Ala)
|
rs1555283506
|
|
|
NM_000059.4(BRCA2):c.4024A>G (p.Ser1342Gly)
|
rs1060502476
|
|
|
NM_000059.4(BRCA2):c.4025G>A (p.Ser1342Asn)
|
rs1270552356
|
|
|
NM_000059.4(BRCA2):c.4025G>T (p.Ser1342Ile)
|
|
|
|
NM_000059.4(BRCA2):c.4027A>G (p.Lys1343Glu)
|
rs483353114
|
|
|
NM_000059.4(BRCA2):c.4032T>G (p.Asn1344Lys)
|
rs1555283514
|
|
|
NM_000059.4(BRCA2):c.4033G>A (p.Asp1345Asn)
|
rs1555283516
|
|
|
NM_000059.4(BRCA2):c.4033G>T (p.Asp1345Tyr)
|
|
|
|
NM_000059.4(BRCA2):c.4036A>G (p.Thr1346Ala)
|
rs2137502300
|
|
|
NM_000059.4(BRCA2):c.4037C>A (p.Thr1346Asn)
|
rs1555283519
|
|
|
NM_000059.4(BRCA2):c.4042T>C (p.Cys1348Arg)
|
rs199863034
|
|
|
NM_000059.4(BRCA2):c.4043G>A (p.Cys1348Tyr)
|
rs1307056903
|
|
|
NM_000059.4(BRCA2):c.4043G>T (p.Cys1348Phe)
|
rs1307056903
|
|
|
NM_000059.4(BRCA2):c.4046T>G (p.Ile1349Ser)
|
rs80358654
|
|
|
NM_000059.4(BRCA2):c.4050T>A (p.His1350Gln)
|
rs1359369718
|
|
|
NM_000059.4(BRCA2):c.4054G>T (p.Asp1352Tyr)
|
rs80358655
|
|
|
NM_000059.4(BRCA2):c.4062G>T (p.Thr1354=)
|
rs768735660
|
|
|
NM_000059.4(BRCA2):c.4068G>T (p.Leu1356Phe)
|
rs28897724
|
|
|
NM_000059.4(BRCA2):c.4070T>G (p.Leu1357Arg)
|
rs55796504
|
|
|
NM_000059.4(BRCA2):c.4075A>G (p.Thr1359Ala)
|
rs1566229623
|
|
|
NM_000059.4(BRCA2):c.4076C>T (p.Thr1359Ile)
|
rs878853578
|
|
|
NM_000059.4(BRCA2):c.4079A>G (p.Asp1360Gly)
|
rs730881529
|
|
|
NM_000059.4(BRCA2):c.4081C>G (p.Gln1361Glu)
|
rs587780652
|
|
|
NM_000059.4(BRCA2):c.4085A>G (p.His1362Arg)
|
rs1060502441
|
|
|
NM_000059.4(BRCA2):c.4087A>C (p.Asn1363His)
|
|
|
|
NM_000059.4(BRCA2):c.4089C>A (p.Asn1363Lys)
|
rs80359787
|
|
|
NM_000059.4(BRCA2):c.4089C>T (p.Asn1363=)
|
rs80359787
|
|
|
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu)
|
rs56248502
|
|
|
NM_000059.4(BRCA2):c.4090A>G (p.Ile1364Val)
|
rs56248502
|
|
|
NM_000059.4(BRCA2):c.4093T>C (p.Cys1365Arg)
|
rs2137502841
|
|
|
NM_000059.4(BRCA2):c.4094G>C (p.Cys1365Ser)
|
rs80358657
|
|
|
NM_000059.4(BRCA2):c.4101A>T (p.Lys1367Asn)
|
|
|
|
NM_000059.4(BRCA2):c.4106C>T (p.Ser1369Phe)
|
rs1555283554
|
|
|
NM_000059.4(BRCA2):c.4109G>A (p.Gly1370Asp)
|
rs587781406
|
|
|
NM_000059.4(BRCA2):c.4109G>C (p.Gly1370Ala)
|
rs587781406
|
|
|
NM_000059.4(BRCA2):c.4109G>T (p.Gly1370Val)
|
rs587781406
|
|
|
NM_000059.4(BRCA2):c.4112A>G (p.Gln1371Arg)
|
|
|
|
NM_000059.4(BRCA2):c.4113G>C (p.Gln1371His)
|
rs1555283563
|
|
|
NM_000059.4(BRCA2):c.4113G>T (p.Gln1371His)
|
rs1555283563
|
|
|
NM_000059.4(BRCA2):c.4114T>C (p.Phe1372Leu)
|
|
|
|
NM_000059.4(BRCA2):c.4115T>A (p.Phe1372Tyr)
|
rs1555283567
|
|
|
NM_000059.4(BRCA2):c.4116T>G (p.Phe1372Leu)
|
rs786203478
|
|
|
NM_000059.4(BRCA2):c.4117A>G (p.Met1373Val)
|
rs781119815
|
|
|
NM_000059.4(BRCA2):c.4118T>C (p.Met1373Thr)
|
rs750581150
|
|
|
NM_000059.4(BRCA2):c.4120A>G (p.Lys1374Glu)
|
rs864622126
|
|
|
NM_000059.4(BRCA2):c.4123G>A (p.Glu1375Lys)
|
|
|
|
NM_000059.4(BRCA2):c.4130A>G (p.Asn1377Ser)
|
|
|
|
NM_000059.4(BRCA2):c.4132A>T (p.Thr1378Ser)
|
rs1204269313
|
|
|
NM_000059.4(BRCA2):c.4133C>A (p.Thr1378Asn)
|
rs945880747
|
|
|
NM_000059.4(BRCA2):c.4133C>T (p.Thr1378Ile)
|
rs945880747
|
|
|
NM_000059.4(BRCA2):c.4135C>A (p.Gln1379Lys)
|
|
|
|
NM_000059.4(BRCA2):c.4137G>T (p.Gln1379His)
|
rs768918982
|
|
|
NM_000059.4(BRCA2):c.4140T>G (p.Ile1380Met)
|
rs587781488
|
|
|
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del)
|
rs80359432
|
|
|
NM_000059.4(BRCA2):c.4145A>G (p.Glu1382Gly)
|
rs1566229775
|
|
|
NM_000059.4(BRCA2):c.4147G>A (p.Asp1383Asn)
|
rs587782234
|
|
|
NM_000059.4(BRCA2):c.4150T>A (p.Leu1384Met)
|
rs779408742
|
|
|
NM_000059.4(BRCA2):c.4156G>A (p.Asp1386Asn)
|
rs1555283600
|
|
|
NM_000059.4(BRCA2):c.4156G>T (p.Asp1386Tyr)
|
rs1555283600
|
|
|
NM_000059.4(BRCA2):c.4157A>G (p.Asp1386Gly)
|
rs431825316
|
|
|
NM_000059.4(BRCA2):c.4157A>T (p.Asp1386Val)
|
rs431825316
|
|
|
NM_000059.4(BRCA2):c.4165T>C (p.Phe1389Leu)
|
|
|
|
NM_000059.4(BRCA2):c.4165T>G (p.Phe1389Val)
|
rs1409088355
|
|
|
NM_000059.4(BRCA2):c.4166T>C (p.Phe1389Ser)
|
rs1566229818
|
|
|
NM_000059.4(BRCA2):c.4169T>G (p.Leu1390Trp)
|
rs1593901612
|
|
|
NM_000059.4(BRCA2):c.4171G>A (p.Glu1391Lys)
|
rs1593901620
|
|
|
NM_000059.4(BRCA2):c.4174G>A (p.Val1392Ile)
|
rs80358661
|
|
|
NM_000059.4(BRCA2):c.4178C>G (p.Ala1393Gly)
|
rs398122776
|
|
|
NM_000059.4(BRCA2):c.4186C>A (p.Gln1396Lys)
|
rs776286311
|
|
|
NM_000059.4(BRCA2):c.4189G>A (p.Glu1397Lys)
|
rs28897726
|
|
|
NM_000059.4(BRCA2):c.4190A>C (p.Glu1397Ala)
|
rs1566229868
|
|
|
NM_000059.4(BRCA2):c.4195T>C (p.Cys1399Arg)
|
rs730881530
|
|
|
NM_000059.4(BRCA2):c.4199A>G (p.His1400Arg)
|
|
|
|
NM_000059.4(BRCA2):c.4204A>C (p.Asn1402His)
|
rs786204062
|
|
|
NM_000059.4(BRCA2):c.4205A>G (p.Asn1402Ser)
|
|
|
|
NM_000059.4(BRCA2):c.4207A>G (p.Thr1403Ala)
|
rs2072498842
|
|
|
NM_000059.4(BRCA2):c.4208C>T (p.Thr1403Ile)
|
rs2072498862
|
|
|
NM_000059.4(BRCA2):c.4213A>C (p.Asn1405His)
|
rs1555283633
|
|
|
NM_000059.4(BRCA2):c.4213A>G (p.Asn1405Asp)
|
rs1555283633
|
|
|
NM_000059.4(BRCA2):c.4214A>G (p.Asn1405Ser)
|
rs2137504065
|
|
|
NM_000059.4(BRCA2):c.4216A>G (p.Lys1406Glu)
|
rs876658735
|
|
|
NM_000059.4(BRCA2):c.4220A>G (p.Glu1407Gly)
|
rs1593901726
|
|
|
NM_000059.4(BRCA2):c.4229C>A (p.Thr1410Asn)
|
rs1593901756
|
|
|
NM_000059.4(BRCA2):c.4232C>G (p.Ala1411Gly)
|
rs786203320
|
|
|
NM_000059.4(BRCA2):c.4237A>G (p.Lys1413Glu)
|
rs876661198
|
|
|
NM_000059.4(BRCA2):c.4243G>C (p.Glu1415Gln)
|
rs397507327
|
|
|
NM_000059.4(BRCA2):c.4247A>T (p.Gln1416Leu)
|
|
|
|
NM_000059.4(BRCA2):c.425+5G>C
|
rs1388671241
|
|
|
NM_000059.4(BRCA2):c.4252A>G (p.Ile1418Val)
|
rs143667871
|
|
|
NM_000059.4(BRCA2):c.4253T>C (p.Ile1418Thr)
|
rs754119978
|
|
|
NM_000059.4(BRCA2):c.4259A>T (p.Asp1420Val)
|
rs2072500081
|
|
|
NM_000059.4(BRCA2):c.4261T>C (p.Phe1421Leu)
|
rs878853582
|
|
|
NM_000059.4(BRCA2):c.4266G>C (p.Glu1422Asp)
|
rs2072500238
|
|
|
NM_000059.4(BRCA2):c.4267A>G (p.Thr1423Ala)
|
|
|
|
NM_000059.4(BRCA2):c.4268C>T (p.Thr1423Ile)
|
rs1593901864
|
|
|
NM_000059.4(BRCA2):c.4274A>G (p.Asp1425Gly)
|
rs398122780
|
|
|
NM_000059.4(BRCA2):c.4274A>T (p.Asp1425Val)
|
rs398122780
|
|
|
NM_000059.4(BRCA2):c.4276A>G (p.Thr1426Ala)
|
rs876659380
|
|
|
NM_000059.4(BRCA2):c.4277C>A (p.Thr1426Lys)
|
rs748591104
|
|
|
NM_000059.4(BRCA2):c.4280T>A (p.Phe1427Tyr)
|
rs886463005
|
|
|
NM_000059.4(BRCA2):c.4286A>G (p.Gln1429Arg)
|
|
|
|
NM_000059.4(BRCA2):c.4287G>T (p.Gln1429His)
|
rs2072500788
|
|
|
NM_000059.4(BRCA2):c.4288A>G (p.Thr1430Ala)
|
rs1555283691
|
|
|
NM_000059.4(BRCA2):c.4289C>T (p.Thr1430Ile)
|
rs876659247
|
|
|
NM_000059.4(BRCA2):c.4291G>C (p.Ala1431Pro)
|
|
|
|
NM_000059.4(BRCA2):c.4292C>T (p.Ala1431Val)
|
rs876659272
|
|
|
NM_000059.4(BRCA2):c.4294A>G (p.Ser1432Gly)
|
rs398122781
|
|
|
NM_000059.4(BRCA2):c.4295G>A (p.Ser1432Asn)
|
rs1566230025
|
|
|
NM_000059.4(BRCA2):c.4298G>A (p.Gly1433Glu)
|
rs758795405
|
|
|
NM_000059.4(BRCA2):c.4300A>G (p.Lys1434Glu)
|
rs876659616
|
|
|
NM_000059.4(BRCA2):c.4306A>G (p.Ile1436Val)
|
rs778282885
|
|
|
NM_000059.4(BRCA2):c.4307T>C (p.Ile1436Thr)
|
rs746472081
|
|
|
NM_000059.4(BRCA2):c.4309A>T (p.Ser1437Cys)
|
rs1555283705
|
|
|
NM_000059.4(BRCA2):c.430GTT[1] (p.Val145del)
|
rs80359442
|
|
|
NM_000059.4(BRCA2):c.4312G>A (p.Val1438Ile)
|
rs786202874
|
|
|
NM_000059.4(BRCA2):c.4313T>C (p.Val1438Ala)
|
|
|
|
NM_000059.4(BRCA2):c.4316C>T (p.Ala1439Val)
|
|
|
|
NM_000059.4(BRCA2):c.4320A>C (p.Lys1440Asn)
|
rs769535925
|
|
|
NM_000059.4(BRCA2):c.4320A>G (p.Lys1440=)
|
rs769535925
|
|
|
NM_000059.4(BRCA2):c.4321G>A (p.Glu1441Lys)
|
rs876659758
|
|
|
NM_000059.4(BRCA2):c.4321G>C (p.Glu1441Gln)
|
rs876659758
|
|
|
NM_000059.4(BRCA2):c.4331A>C (p.Asn1444Thr)
|
rs587782661
|
|
|
NM_000059.4(BRCA2):c.4331A>G (p.Asn1444Ser)
|
rs587782661
|
|
|
NM_000059.4(BRCA2):c.4333A>G (p.Lys1445Glu)
|
rs786203291
|
|
|
NM_000059.4(BRCA2):c.4334A>C (p.Lys1445Thr)
|
rs1566230096
|
|
|
NM_000059.4(BRCA2):c.4339G>T (p.Val1447Leu)
|
|
|
|
NM_000059.4(BRCA2):c.4343A>T (p.Asn1448Ile)
|
rs762841458
|
|
|
NM_000059.4(BRCA2):c.4347C>A (p.Phe1449Leu)
|
rs1060502450
|
|
|
NM_000059.4(BRCA2):c.4352A>C (p.Asp1451Ala)
|
|
|
|
NM_000059.4(BRCA2):c.4352A>G (p.Asp1451Gly)
|
rs80358671
|
|
|
NM_000059.4(BRCA2):c.4353T>G (p.Asp1451Glu)
|
rs1566230114
|
|
|
NM_000059.4(BRCA2):c.4354C>G (p.Gln1452Glu)
|
rs431825319
|
|
|
NM_000059.4(BRCA2):c.4355A>G (p.Gln1452Arg)
|
rs56317927
|
|
|
NM_000059.4(BRCA2):c.4358A>C (p.Lys1453Thr)
|
|
|
|
NM_000059.4(BRCA2):c.4361C>T (p.Pro1454Leu)
|
|
|
|
NM_000059.4(BRCA2):c.4364A>T (p.Glu1455Val)
|
rs2072502464
|
|
|
NM_000059.4(BRCA2):c.4366G>A (p.Glu1456Lys)
|
rs876659847
|
|
|
NM_000059.4(BRCA2):c.4367A>C (p.Glu1456Ala)
|
rs878853584
|
|
|
NM_000059.4(BRCA2):c.4367A>G (p.Glu1456Gly)
|
rs878853584
|
|
|
NM_000059.4(BRCA2):c.4372C>G (p.His1458Asp)
|
|
|
|
NM_000059.4(BRCA2):c.4373A>G (p.His1458Arg)
|
rs587782185
|
|
|
NM_000059.4(BRCA2):c.4374T>A (p.His1458Gln)
|
rs1060504627
|
|
|
NM_000059.4(BRCA2):c.4375A>T (p.Asn1459Tyr)
|
|
|
|
NM_000059.4(BRCA2):c.4378T>G (p.Phe1460Val)
|
rs1555283754
|
|
|
NM_000059.4(BRCA2):c.4379T>C (p.Phe1460Ser)
|
rs1555283758
|
|
|
NM_000059.4(BRCA2):c.4381T>C (p.Ser1461Pro)
|
rs1060502490
|
|
|
NM_000059.4(BRCA2):c.4381T>G (p.Ser1461Ala)
|
rs1060502490
|
|
|
NM_000059.4(BRCA2):c.4382C>T (p.Ser1461Phe)
|
rs1593902185
|
|
|
NM_000059.4(BRCA2):c.4384T>G (p.Leu1462Val)
|
rs1593902198
|
|
|
NM_000059.4(BRCA2):c.4390T>G (p.Ser1464Ala)
|
rs1555283760
|
|
|
NM_000059.4(BRCA2):c.4391C>G (p.Ser1464Cys)
|
rs587776464
|
|
|
NM_000059.4(BRCA2):c.4391C>T (p.Ser1464Phe)
|
rs587776464
|
|
|
NM_000059.4(BRCA2):c.4400A>C (p.His1467Pro)
|
rs1555283765
|
|
|
NM_000059.4(BRCA2):c.4400A>G (p.His1467Arg)
|
rs1555283765
|
|
|
NM_000059.4(BRCA2):c.4403C>G (p.Ser1468Cys)
|
rs1555283769
|
|
|
NM_000059.4(BRCA2):c.4405G>A (p.Asp1469Asn)
|
rs1555283770
|
|
|
NM_000059.4(BRCA2):c.4408A>G (p.Ile1470Val)
|
rs2137506004
|
|
|
NM_000059.4(BRCA2):c.4412G>C (p.Arg1471Thr)
|
|
|
|
NM_000059.4(BRCA2):c.4414A>G (p.Lys1472Glu)
|
rs757821270
|
|
|
NM_000059.4(BRCA2):c.4415A>G (p.Lys1472Arg)
|
rs2072503705
|
|
|
NM_000059.4(BRCA2):c.4417A>G (p.Asn1473Asp)
|
rs80358675
|
|
|
NM_000059.4(BRCA2):c.4420A>G (p.Lys1474Glu)
|
|
|
|
NM_000059.4(BRCA2):c.4423A>G (p.Met1475Val)
|
rs431825320
|
|
|
NM_000059.4(BRCA2):c.4424T>A (p.Met1475Lys)
|
|
|
|
NM_000059.4(BRCA2):c.4424T>G (p.Met1475Arg)
|
rs2072503948
|
|
|
NM_000059.4(BRCA2):c.4427A>G (p.Asp1476Gly)
|
rs745425169
|
|
|
NM_000059.4(BRCA2):c.4429A>T (p.Ile1477Phe)
|
|
|
|
NM_000059.4(BRCA2):c.4430T>C (p.Ile1477Thr)
|
rs1555283775
|
|
|
NM_000059.4(BRCA2):c.4436G>A (p.Ser1479Asn)
|
rs80358678
|
|
|
NM_000059.4(BRCA2):c.4447A>G (p.Thr1483Ala)
|
rs1555283789
|
|
|
NM_000059.4(BRCA2):c.4448C>T (p.Thr1483Ile)
|
|
|
|
NM_000059.4(BRCA2):c.4451A>G (p.Asp1484Gly)
|
rs1327059542
|
|
|
NM_000059.4(BRCA2):c.4453A>G (p.Ile1485Val)
|
rs2072504654
|
|
|
NM_000059.4(BRCA2):c.4453A>T (p.Ile1485Leu)
|
rs2072504654
|
|
|
NM_000059.4(BRCA2):c.4454T>G (p.Ile1485Arg)
|
rs1555283790
|
|
|
NM_000059.4(BRCA2):c.4455A>G (p.Ile1485Met)
|
rs1555283791
|
|
|
NM_000059.4(BRCA2):c.4457T>G (p.Val1486Gly)
|
rs2072504759
|
|
|
NM_000059.4(BRCA2):c.4461A>G (p.Lys1487=)
|
rs786201350
|
|
|
NM_000059.4(BRCA2):c.4462C>T (p.His1488Tyr)
|
rs1555283795
|
|
|
NM_000059.4(BRCA2):c.4463A>G (p.His1488Arg)
|
rs1335405008
|
|
|
NM_000059.4(BRCA2):c.4464C>A (p.His1488Gln)
|
rs786203743
|
|
|
NM_000059.4(BRCA2):c.4464C>G (p.His1488Gln)
|
rs786203743
|
|
|
NM_000059.4(BRCA2):c.4468A>G (p.Ile1490Val)
|
|
|
|
NM_000059.4(BRCA2):c.4470A>G (p.Ile1490Met)
|
rs1593902461
|
|
|
NM_000059.4(BRCA2):c.4472T>C (p.Leu1491Pro)
|
rs1555283798
|
|
|
NM_000059.4(BRCA2):c.4477G>C (p.Glu1493Gln)
|
rs398122782
|
|
|
NM_000059.4(BRCA2):c.4478A>C (p.Glu1493Ala)
|
rs80358679
|
|
|
NM_000059.4(BRCA2):c.4481G>C (p.Ser1494Thr)
|
rs1593902517
|
|
|
NM_000059.4(BRCA2):c.4487C>T (p.Pro1496Leu)
|
rs2072505667
|
|
|
NM_000059.4(BRCA2):c.4489G>C (p.Val1497Leu)
|
rs1271777808
|
|
|
NM_000059.4(BRCA2):c.4490T>A (p.Val1497Asp)
|
rs80358681
|
|
|
NM_000059.4(BRCA2):c.4490T>C (p.Val1497Ala)
|
rs80358681
|
|
|
NM_000059.4(BRCA2):c.4490T>G (p.Val1497Gly)
|
|
|
|
NM_000059.4(BRCA2):c.4496C>G (p.Thr1499Ser)
|
|
|
|
NM_000059.4(BRCA2):c.4502A>G (p.Asn1501Ser)
|
rs545444016
|
|
|
NM_000059.4(BRCA2):c.4504C>A (p.Gln1502Lys)
|
rs1060502425
|
|
|
NM_000059.4(BRCA2):c.4504C>G (p.Gln1502Glu)
|
rs1060502425
|
|
|
NM_000059.4(BRCA2):c.4505A>G (p.Gln1502Arg)
|
rs876660919
|
|
|
NM_000059.4(BRCA2):c.4513A>G (p.Thr1505Ala)
|
rs80358682
|
|
|
NM_000059.4(BRCA2):c.4514C>T (p.Thr1505Ile)
|
rs1566230463
|
|
|
NM_000059.4(BRCA2):c.4517T>C (p.Phe1506Ser)
|
|
|
|
NM_000059.4(BRCA2):c.4520A>G (p.Gln1507Arg)
|
rs1473942366
|
|
|
NM_000059.4(BRCA2):c.4522G>C (p.Gly1508Arg)
|
rs876661035
|
|
|
NM_000059.4(BRCA2):c.4524A>T (p.Gly1508=)
|
rs876658560
|
|
|
NM_000059.4(BRCA2):c.4526A>C (p.Gln1509Pro)
|
|
|
|
NM_000059.4(BRCA2):c.4528C>T (p.Pro1510Ser)
|
|
|
|
NM_000059.4(BRCA2):c.4532A>G (p.Glu1511Gly)
|
rs1593902650
|
|
|
NM_000059.4(BRCA2):c.4534C>A (p.Arg1512Ser)
|
rs80358684
|
|
|
NM_000059.4(BRCA2):c.4535G>C (p.Arg1512Pro)
|
rs80358685
|
|
|
NM_000059.4(BRCA2):c.4537G>A (p.Asp1513Asn)
|
rs80358687
|
|
|
NM_000059.4(BRCA2):c.4543A>G (p.Lys1515Glu)
|
rs1555283834
|
|
|
NM_000059.4(BRCA2):c.4545G>C (p.Lys1515Asn)
|
rs1555283835
|
|
|
NM_000059.4(BRCA2):c.4546A>C (p.Ile1516Leu)
|
rs786202983
|
|
|
NM_000059.4(BRCA2):c.4547T>A (p.Ile1516Asn)
|
rs80358689
|
|
|
NM_000059.4(BRCA2):c.4549A>G (p.Lys1517Glu)
|
rs730881532
|
|
|
NM_000059.4(BRCA2):c.4550A>G (p.Lys1517Arg)
|
rs587781468
|
|
|
NM_000059.4(BRCA2):c.4555C>G (p.Pro1519Ala)
|
rs1555283843
|
|
|
NM_000059.4(BRCA2):c.4559C>G (p.Thr1520Ser)
|
rs747993489
|
|
|
NM_000059.4(BRCA2):c.455C>A (p.Thr152Lys)
|
rs80358691
|
|
|
NM_000059.4(BRCA2):c.4562T>G (p.Leu1521Arg)
|
rs1200198184
|
|
|
NM_000059.4(BRCA2):c.4562_4563delinsCG (p.Leu1521Pro)
|
rs1555283849
|
|
|
NM_000059.4(BRCA2):c.4563_4565delinsGTC (p.Leu1522Ser)
|
rs2072507831
|
|
|
NM_000059.4(BRCA2):c.4565T>C (p.Leu1522Ser)
|
rs1593902785
|
|
|
NM_000059.4(BRCA2):c.4567G>A (p.Gly1523Ser)
|
rs587781418
|
|
|
NM_000059.4(BRCA2):c.4568G>A (p.Gly1523Asp)
|
rs879255451
|
|
|
NM_000059.4(BRCA2):c.4568G>T (p.Gly1523Val)
|
rs879255451
|
|
|
NM_000059.4(BRCA2):c.4571T>G (p.Phe1524Cys)
|
rs1743560254
|
|
|
NM_000059.4(BRCA2):c.4574A>G (p.His1525Arg)
|
rs397507336
|
|
|
NM_000059.4(BRCA2):c.4574A>T (p.His1525Leu)
|
rs397507336
|
|
|
NM_000059.4(BRCA2):c.4580C>A (p.Ala1527Asp)
|
|
|
|
NM_000059.4(BRCA2):c.4584C>G (p.Ser1528Arg)
|
rs80359788
|
|
|
NM_000059.4(BRCA2):c.4586G>C (p.Gly1529Ala)
|
|
|
|
NM_000059.4(BRCA2):c.4589A>G (p.Lys1530Arg)
|
rs397507730
|
|
|
NM_000059.4(BRCA2):c.4591A>G (p.Lys1531Glu)
|
rs1555283865
|
|
|
NM_000059.4(BRCA2):c.4593A>C (p.Lys1531Asn)
|
rs386833397
|
|
|
NM_000059.4(BRCA2):c.4594G>T (p.Val1532Phe)
|
rs80358693
|
|
|
NM_000059.4(BRCA2):c.4597A>C (p.Lys1533Gln)
|
rs1060502418
|
|
|
NM_000059.4(BRCA2):c.4600A>G (p.Ile1534Val)
|
|
|
|
NM_000059.4(BRCA2):c.4601T>C (p.Ile1534Thr)
|
rs1555283869
|
|
|
NM_000059.4(BRCA2):c.4603G>A (p.Ala1535Thr)
|
rs2072508845
|
|
|
NM_000059.4(BRCA2):c.4603G>T (p.Ala1535Ser)
|
rs2072508845
|
|
|
NM_000059.4(BRCA2):c.4606A>G (p.Lys1536Glu)
|
rs1555283871
|
|
|
NM_000059.4(BRCA2):c.4607A>G (p.Lys1536Arg)
|
|
|
|
NM_000059.4(BRCA2):c.4609G>C (p.Glu1537Gln)
|
rs753244927
|
|
|
NM_000059.4(BRCA2):c.4611A>C (p.Glu1537Asp)
|
rs786202313
|
|
|
NM_000059.4(BRCA2):c.4613C>A (p.Ser1538Tyr)
|
|
|
|
NM_000059.4(BRCA2):c.4613C>T (p.Ser1538Phe)
|
rs754643404
|
|
|
NM_000059.4(BRCA2):c.4620C>G (p.Asp1540Glu)
|
rs1555283875
|
|
|
NM_000059.4(BRCA2):c.4620C>T (p.Asp1540=)
|
rs1555283875
|
|
|
NM_000059.4(BRCA2):c.4621A>C (p.Lys1541Gln)
|
rs2072509204
|
|
|
NM_000059.4(BRCA2):c.4624G>A (p.Val1542Met)
|
rs28897729
|
|
|
NM_000059.4(BRCA2):c.4627A>G (p.Lys1543Glu)
|
rs786204239
|
|
|
NM_000059.4(BRCA2):c.4631A>G (p.Asn1544Ser)
|
rs587782753
|
|
|
NM_000059.4(BRCA2):c.4637T>C (p.Phe1546Ser)
|
rs397507337
|
|
|
NM_000059.4(BRCA2):c.4637T>G (p.Phe1546Cys)
|
rs397507337
|
|
|
NM_000059.4(BRCA2):c.4641T>A (p.Asp1547Glu)
|
|
|
|
NM_000059.4(BRCA2):c.4643A>C (p.Glu1548Ala)
|
rs1428922464
|
|
|
NM_000059.4(BRCA2):c.4645A>G (p.Lys1549Glu)
|
rs2072509841
|
|
|
NM_000059.4(BRCA2):c.4646A>C (p.Lys1549Thr)
|
|
|
|
NM_000059.4(BRCA2):c.4648G>C (p.Glu1550Gln)
|
rs80358695
|
|
|
NM_000059.4(BRCA2):c.4649A>C (p.Glu1550Ala)
|
rs876660887
|
|
|
NM_000059.4(BRCA2):c.4649A>G (p.Glu1550Gly)
|
rs876660887
|
|
|
NM_000059.4(BRCA2):c.4651C>G (p.Gln1551Glu)
|
rs876661062
|
|
|
NM_000059.4(BRCA2):c.4654G>C (p.Gly1552Arg)
|
rs1566230890
|
|
|
NM_000059.4(BRCA2):c.4655G>T (p.Gly1552Val)
|
rs80358696
|
|
|
NM_000059.4(BRCA2):c.4658C>G (p.Thr1553Ser)
|
|
|
|
NM_000059.4(BRCA2):c.4663G>A (p.Glu1555Lys)
|
rs1593903083
|
|
|
NM_000059.4(BRCA2):c.4669A>G (p.Thr1557Ala)
|
rs1566230921
|
|
|
NM_000059.4(BRCA2):c.4670C>A (p.Thr1557Asn)
|
|
|
|
NM_000059.4(BRCA2):c.4670C>T (p.Thr1557Ile)
|
rs80358698
|
|
|
NM_000059.4(BRCA2):c.4672A>T (p.Ser1558Cys)
|
|
|
|
NM_000059.4(BRCA2):c.4676T>C (p.Phe1559Ser)
|
rs1060502411
|
|
|
NM_000059.4(BRCA2):c.4676T>G (p.Phe1559Cys)
|
rs1060502411
|
|
|
NM_000059.4(BRCA2):c.4678A>G (p.Ser1560Gly)
|
rs1566230938
|
|
|
NM_000059.4(BRCA2):c.4679G>C (p.Ser1560Thr)
|
rs2137508985
|
|
|
NM_000059.4(BRCA2):c.468T>G (p.Asp156Glu)
|
rs1197305103
|
|
|
NM_000059.4(BRCA2):c.4690G>T (p.Ala1564Ser)
|
rs1566230953
|
|
|
NM_000059.4(BRCA2):c.4691C>G (p.Ala1564Gly)
|
|
|
|
NM_000059.4(BRCA2):c.4696A>G (p.Thr1566Ala)
|
rs1555283904
|
|
|
NM_000059.4(BRCA2):c.4704G>T (p.Lys1568Asn)
|
rs863224589
|
|
|
NM_000059.4(BRCA2):c.4706A>G (p.Tyr1569Cys)
|
rs1555283910
|
|
|
NM_000059.4(BRCA2):c.4708A>G (p.Arg1570Gly)
|
rs2072511183
|
|
|
NM_000059.4(BRCA2):c.4711G>A (p.Glu1571Lys)
|
rs2137509353
|
|
|
NM_000059.4(BRCA2):c.4715C>G (p.Ala1572Gly)
|
rs2072511378
|
|
|
NM_000059.4(BRCA2):c.4715C>T (p.Ala1572Val)
|
|
|
|
NM_000059.4(BRCA2):c.4717T>C (p.Cys1573Arg)
|
rs56054233
|
|
|
NM_000059.4(BRCA2):c.4720A>G (p.Lys1574Glu)
|
|
|
|
NM_000059.4(BRCA2):c.4723G>A (p.Asp1575Asn)
|
rs587782013
|
|
|
NM_000059.4(BRCA2):c.4723G>T (p.Asp1575Tyr)
|
rs587782013
|
|
|
NM_000059.4(BRCA2):c.4724A>G (p.Asp1575Gly)
|
|
|
|
NM_000059.4(BRCA2):c.4736C>T (p.Ala1579Val)
|
rs1555283920
|
|
|
NM_000059.4(BRCA2):c.4738T>C (p.Cys1580Arg)
|
rs2072511910
|
|
|
NM_000059.4(BRCA2):c.4741G>C (p.Glu1581Gln)
|
rs368952892
|
|
|
NM_000059.4(BRCA2):c.4742A>G (p.Glu1581Gly)
|
|
|
|
NM_000059.4(BRCA2):c.4748T>C (p.Ile1583Thr)
|
rs1566231072
|
|
|
NM_000059.4(BRCA2):c.4756A>G (p.Thr1586Ala)
|
rs1593903364
|
|
|
NM_000059.4(BRCA2):c.476-11T>C
|
rs1555280973
|
|
|
NM_000059.4(BRCA2):c.476-3C>T
|
rs371431745
|
|
|
NM_000059.4(BRCA2):c.476-9dup
|
rs276174849
|
|
|
NM_000059.4(BRCA2):c.4763C>T (p.Ala1588Val)
|
|
|
|
NM_000059.4(BRCA2):c.4765C>G (p.Pro1589Ala)
|
rs876660366
|
|
|
NM_000059.4(BRCA2):c.4766C>A (p.Pro1589Gln)
|
rs2137509982
|
|
|
NM_000059.4(BRCA2):c.4769A>G (p.Lys1590Arg)
|
rs2072512459
|
|
|
NM_000059.4(BRCA2):c.4770G>T (p.Lys1590Asn)
|
|
|
|
NM_000059.4(BRCA2):c.4771T>A (p.Cys1591Ser)
|
rs781130788
|
|
|
NM_000059.4(BRCA2):c.4772G>C (p.Cys1591Ser)
|
rs1555283933
|
|
|
NM_000059.4(BRCA2):c.4781T>G (p.Met1594Arg)
|
rs730881533
|
|
|
NM_000059.4(BRCA2):c.4782G>A (p.Met1594Ile)
|
rs876658930
|
|
|
NM_000059.4(BRCA2):c.4782G>T (p.Met1594Ile)
|
rs876658930
|
|
|
NM_000059.4(BRCA2):c.4787A>G (p.Asn1596Ser)
|
|
|
|
NM_000059.4(BRCA2):c.4790C>A (p.Ser1597Tyr)
|
rs876660146
|
|
|
NM_000059.4(BRCA2):c.4790C>G (p.Ser1597Cys)
|
rs876660146
|
|
|
NM_000059.4(BRCA2):c.4790C>T (p.Ser1597Phe)
|
rs876660146
|
|
|
NM_000059.4(BRCA2):c.4795A>G (p.Asn1599Asp)
|
rs786202703
|
|
|
NM_000059.4(BRCA2):c.4795AAT[1] (p.Asn1600del)
|
rs276174851
|
|
|
NM_000059.4(BRCA2):c.4798A>G (p.Asn1600Asp)
|
rs774484160
|
|
|
NM_000059.4(BRCA2):c.4802A>G (p.Asp1601Gly)
|
rs80358704
|
|
|
NM_000059.4(BRCA2):c.4802A>T (p.Asp1601Val)
|
rs80358704
|
|
|
NM_000059.4(BRCA2):c.4808A>G (p.Asn1603Ser)
|
|
|
|
NM_000059.4(BRCA2):c.4808A>T (p.Asn1603Ile)
|
rs890665355
|
|
|
NM_000059.4(BRCA2):c.4810C>G (p.Leu1604Val)
|
rs773591333
|
|
|
NM_000059.4(BRCA2):c.4817C>G (p.Ser1606Cys)
|
rs876659853
|
|
|
NM_000059.4(BRCA2):c.4820T>C (p.Ile1607Thr)
|
rs1566231183
|
|
|
NM_000059.4(BRCA2):c.4823A>C (p.Glu1608Ala)
|
|
|
|
NM_000059.4(BRCA2):c.4825A>G (p.Thr1609Ala)
|
rs876659201
|
|
|
NM_000059.4(BRCA2):c.4825A>T (p.Thr1609Ser)
|
rs876659201
|
|
|
NM_000059.4(BRCA2):c.4832T>C (p.Val1611Ala)
|
rs1555283950
|
|
|
NM_000059.4(BRCA2):c.4834C>T (p.Pro1612Ser)
|
|
|
|
NM_000059.4(BRCA2):c.4837C>T (p.Pro1613Ser)
|
rs2072513922
|
|
|
NM_000059.4(BRCA2):c.4840A>G (p.Lys1614Glu)
|
rs80358706
|
|
|
NM_000059.4(BRCA2):c.4848A>C (p.Leu1616Phe)
|
|
|
|
NM_000059.4(BRCA2):c.4849A>C (p.Ser1617Arg)
|
rs80358707
|
|
|
NM_000059.4(BRCA2):c.4850G>T (p.Ser1617Ile)
|
rs397507341
|
|
|
NM_000059.4(BRCA2):c.4852G>A (p.Asp1618Asn)
|
rs2072514226
|
|
|
NM_000059.4(BRCA2):c.4856A>G (p.Asn1619Ser)
|
rs80358709
|
|
|
NM_000059.4(BRCA2):c.4856A>T (p.Asn1619Ile)
|
rs80358709
|
|
|
NM_000059.4(BRCA2):c.4858T>G (p.Leu1620Val)
|
rs528771743
|
|
|
NM_000059.4(BRCA2):c.4862G>A (p.Cys1621Tyr)
|
rs730881534
|
|
|
NM_000059.4(BRCA2):c.4865G>T (p.Arg1622Ile)
|
rs864622427
|
|
|
NM_000059.4(BRCA2):c.4868A>C (p.Gln1623Pro)
|
rs75381894
|
|
|
NM_000059.4(BRCA2):c.4876A>C (p.Asn1626His)
|
rs1555283968
|
|
|
NM_000059.4(BRCA2):c.4882A>G (p.Lys1628Glu)
|
rs2072514905
|
|
|
NM_000059.4(BRCA2):c.4885A>G (p.Thr1629Ala)
|
rs879255455
|
|
|
NM_000059.4(BRCA2):c.4886C>T (p.Thr1629Ile)
|
rs587781581
|
|
|
NM_000059.4(BRCA2):c.4888T>C (p.Ser1630Pro)
|
rs1555283977
|
|
|
NM_000059.4(BRCA2):c.4889C>T (p.Ser1630Leu)
|
rs80358711
|
|
|
NM_000059.4(BRCA2):c.4891A>C (p.Lys1631Gln)
|
rs748213879
|
|
|
NM_000059.4(BRCA2):c.4891A>G (p.Lys1631Glu)
|
|
|
|
NM_000059.4(BRCA2):c.4892A>T (p.Lys1631Ile)
|
rs587781573
|
|
|
NM_000059.4(BRCA2):c.4894A>C (p.Ser1632Arg)
|
rs80358712
|
|
|
NM_000059.4(BRCA2):c.4895G>A (p.Ser1632Asn)
|
|
|
|
NM_000059.4(BRCA2):c.4895G>C (p.Ser1632Thr)
|
rs1593903713
|
|
|
NM_000059.4(BRCA2):c.4897A>G (p.Ile1633Val)
|
rs80358713
|
|
|
NM_000059.4(BRCA2):c.4898T>A (p.Ile1633Asn)
|
rs80358714
|
|
|
NM_000059.4(BRCA2):c.4900T>A (p.Phe1634Ile)
|
rs1555283982
|
|
|
NM_000059.4(BRCA2):c.4904T>C (p.Leu1635Ser)
|
|
|
|
NM_000059.4(BRCA2):c.4905G>T (p.Leu1635Phe)
|
rs397507342
|
|
|
NM_000059.4(BRCA2):c.4909G>C (p.Val1637Leu)
|
|
|
|
NM_000059.4(BRCA2):c.4912A>G (p.Lys1638Glu)
|
rs886040553
|
|
|
NM_000059.4(BRCA2):c.4913A>G (p.Lys1638Arg)
|
rs771425987
|
|
|
NM_000059.4(BRCA2):c.4915G>C (p.Val1639Leu)
|
rs80358716
|
|
|
NM_000059.4(BRCA2):c.4915G>T (p.Val1639Leu)
|
rs80358716
|
|
|
NM_000059.4(BRCA2):c.4919A>C (p.His1640Pro)
|
rs373483754
|
|
|
NM_000059.4(BRCA2):c.4919A>G (p.His1640Arg)
|
rs373483754
|
|
|
NM_000059.4(BRCA2):c.4923A>C (p.Glu1641Asp)
|
rs1566231372
|
|
|
NM_000059.4(BRCA2):c.4925A>C (p.Asn1642Thr)
|
rs80358718
|
|
|
NM_000059.4(BRCA2):c.4927G>T (p.Val1643Leu)
|
rs879254182
|
|
|
NM_000059.4(BRCA2):c.4928T>A (p.Val1643Glu)
|
|
|
|
NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala)
|
rs28897731
|
|
|
NM_000059.4(BRCA2):c.4937A>G (p.Glu1646Gly)
|
rs762394148
|
|
|
NM_000059.4(BRCA2):c.4939A>G (p.Thr1647Ala)
|
rs1593903882
|
|
|
NM_000059.4(BRCA2):c.4940C>T (p.Thr1647Ile)
|
rs1593903891
|
|
|
NM_000059.4(BRCA2):c.4942G>A (p.Ala1648Thr)
|
rs786202248
|
|
|
NM_000059.4(BRCA2):c.4943C>T (p.Ala1648Val)
|
rs1449458592
|
|
|
NM_000059.4(BRCA2):c.4945A>G (p.Lys1649Glu)
|
rs763743962
|
|
|
NM_000059.4(BRCA2):c.4947A>C (p.Lys1649Asn)
|
|
|
|
NM_000059.4(BRCA2):c.4952C>G (p.Pro1651Arg)
|
rs565268514
|
|
|
NM_000059.4(BRCA2):c.4952C>T (p.Pro1651Leu)
|
rs565268514
|
|
|
NM_000059.4(BRCA2):c.4957A>G (p.Thr1653Ala)
|
rs587782186
|
|
|
NM_000059.4(BRCA2):c.4960T>G (p.Cys1654Gly)
|
rs876659012
|
|
|
NM_000059.4(BRCA2):c.4963T>C (p.Tyr1655His)
|
rs1593903956
|
|
|
NM_000059.4(BRCA2):c.4967C>G (p.Thr1656Arg)
|
rs876659777
|
|
|
NM_000059.4(BRCA2):c.4969A>C (p.Asn1657His)
|
rs587781599
|
|
|
NM_000059.4(BRCA2):c.4969A>G (p.Asn1657Asp)
|
rs587781599
|
|
|
NM_000059.4(BRCA2):c.4975T>G (p.Ser1659Ala)
|
rs431825324
|
|
|
NM_000059.4(BRCA2):c.4976C>T (p.Ser1659Phe)
|
rs1222542759
|
|
|
NM_000059.4(BRCA2):c.4979C>T (p.Pro1660Leu)
|
rs397507345
|
|
|
NM_000059.4(BRCA2):c.4981T>C (p.Tyr1661His)
|
rs730881535
|
|
|
NM_000059.4(BRCA2):c.4984T>C (p.Ser1662Pro)
|
|
|
|
NM_000059.4(BRCA2):c.4985C>T (p.Ser1662Leu)
|
rs886040559
|
|
|
NM_000059.4(BRCA2):c.4987G>A (p.Val1663Ile)
|
rs587781763
|
|
|
NM_000059.4(BRCA2):c.4988T>C (p.Val1663Ala)
|
rs1060502436
|
|
|
NM_000059.4(BRCA2):c.4991T>C (p.Ile1664Thr)
|
rs863224590
|
|
|
NM_000059.4(BRCA2):c.4993G>C (p.Glu1665Gln)
|
rs1485384156
|
|
|
NM_000059.4(BRCA2):c.4994A>G (p.Glu1665Gly)
|
rs777981245
|
|
|
NM_000059.4(BRCA2):c.4997A>G (p.Asn1666Ser)
|
rs1344419982
|
|
|
NM_000059.4(BRCA2):c.5002G>C (p.Ala1668Pro)
|
rs587782182
|
|
|
NM_000059.4(BRCA2):c.5005T>A (p.Leu1669Ile)
|
rs771336341
|
|
|
NM_000059.4(BRCA2):c.5009C>A (p.Ala1670Asp)
|
rs1566231551
|
|
|
NM_000059.4(BRCA2):c.5009C>T (p.Ala1670Val)
|
rs1566231551
|
|
|
NM_000059.4(BRCA2):c.5017A>C (p.Thr1673Pro)
|
rs746274489
|
|
|
NM_000059.4(BRCA2):c.5017A>T (p.Thr1673Ser)
|
|
|
|
NM_000059.4(BRCA2):c.5018C>T (p.Thr1673Ile)
|
rs376249157
|
|
|
NM_000059.4(BRCA2):c.5021G>C (p.Ser1674Thr)
|
rs876660602
|
|
|
NM_000059.4(BRCA2):c.5023T>C (p.Cys1675Arg)
|
rs786201420
|
|
|
NM_000059.4(BRCA2):c.5026A>C (p.Ser1676Arg)
|
rs786203719
|
|
|
NM_000059.4(BRCA2):c.5027G>A (p.Ser1676Asn)
|
rs876660686
|
|
|
NM_000059.4(BRCA2):c.5027G>T (p.Ser1676Ile)
|
rs876660686
|
|
|
NM_000059.4(BRCA2):c.5029A>G (p.Arg1677Gly)
|
rs1593904196
|
|
|
NM_000059.4(BRCA2):c.5033A>C (p.Lys1678Thr)
|
rs28897733
|
|
|
NM_000059.4(BRCA2):c.5033A>G (p.Lys1678Arg)
|
|
|
|
NM_000059.4(BRCA2):c.5035A>G (p.Thr1679Ala)
|
rs80358728
|
|
|
NM_000059.4(BRCA2):c.5039C>A (p.Ser1680Tyr)
|
rs1555284041
|
|
|
NM_000059.4(BRCA2):c.5042T>G (p.Val1681Gly)
|
rs1593904227
|
|
|
NM_000059.4(BRCA2):c.5045G>C (p.Ser1682Thr)
|
rs41293493
|
|
|
NM_000059.4(BRCA2):c.5048A>T (p.Gln1683Leu)
|
rs587782738
|
|
|
NM_000059.4(BRCA2):c.5049G>C (p.Gln1683His)
|
rs773973434
|
|
|
NM_000059.4(BRCA2):c.5049G>T (p.Gln1683His)
|
rs773973434
|
|
|
NM_000059.4(BRCA2):c.5051C>A (p.Thr1684Asn)
|
rs80358729
|
|
|
NM_000059.4(BRCA2):c.5051C>T (p.Thr1684Ile)
|
|
|
|
NM_000059.4(BRCA2):c.5059C>G (p.Leu1687Val)
|
rs1408726129
|
|
|
NM_000059.4(BRCA2):c.5060T>C (p.Leu1687Pro)
|
|
|
|
NM_000059.4(BRCA2):c.5062G>A (p.Glu1688Lys)
|
rs1555284052
|
|
|
NM_000059.4(BRCA2):c.5081G>A (p.Arg1694Lys)
|
rs753721331
|
|
|
NM_000059.4(BRCA2):c.5083G>A (p.Glu1695Lys)
|
rs938190132
|
|
|
NM_000059.4(BRCA2):c.5084A>G (p.Glu1695Gly)
|
rs397507347
|
|
|
NM_000059.4(BRCA2):c.5084A>T (p.Glu1695Val)
|
rs397507347
|
|
|
NM_000059.4(BRCA2):c.5085A>C (p.Glu1695Asp)
|
|
|
|
NM_000059.4(BRCA2):c.5086G>A (p.Gly1696Arg)
|
rs1593904356
|
|
|
NM_000059.4(BRCA2):c.5093T>C (p.Phe1698Ser)
|
rs1224120349
|
|
|
NM_000059.4(BRCA2):c.5095G>A (p.Asp1699Asn)
|
rs80358731
|
|
|
NM_000059.4(BRCA2):c.5098G>A (p.Gly1700Ser)
|
rs80358733
|
|
|
NM_000059.4(BRCA2):c.5099G>T (p.Gly1700Val)
|
rs2072520161
|
|
|
NM_000059.4(BRCA2):c.5105C>T (p.Pro1702Leu)
|
rs1566231729
|
|
|
NM_000059.4(BRCA2):c.5107G>C (p.Glu1703Gln)
|
rs80358735
|
|
|
NM_000059.4(BRCA2):c.5110A>G (p.Arg1704Gly)
|
rs1064795652
|
|
|
NM_000059.4(BRCA2):c.5114T>G (p.Ile1705Arg)
|
|
|
|
NM_000059.4(BRCA2):c.5116A>G (p.Asn1706Asp)
|
rs2072520671
|
|
|
NM_000059.4(BRCA2):c.5117A>C (p.Asn1706Thr)
|
rs730881536
|
|
|
NM_000059.4(BRCA2):c.5117A>G (p.Asn1706Ser)
|
rs730881536
|
|
|
NM_000059.4(BRCA2):c.5125G>T (p.Asp1709Tyr)
|
rs398122792
|
|
|
NM_000059.4(BRCA2):c.5126A>C (p.Asp1709Ala)
|
rs786202836
|
|
|
NM_000059.4(BRCA2):c.5126A>G (p.Asp1709Gly)
|
rs786202836
|
|
|
NM_000059.4(BRCA2):c.5127T>G (p.Asp1709Glu)
|
|
|
|
NM_000059.4(BRCA2):c.5131G>A (p.Val1711Ile)
|
rs587782067
|
|
|
NM_000059.4(BRCA2):c.5131G>T (p.Val1711Leu)
|
rs587782067
|
|
|
NM_000059.4(BRCA2):c.5135G>A (p.Gly1712Glu)
|
rs1453037467
|
|
|
NM_000059.4(BRCA2):c.5140T>A (p.Tyr1714Asn)
|
|
|
|
NM_000059.4(BRCA2):c.5140T>C (p.Tyr1714His)
|
|
|
|
NM_000059.4(BRCA2):c.5141A>C (p.Tyr1714Ser)
|
rs1566231796
|
|
|
NM_000059.4(BRCA2):c.5145G>C (p.Leu1715Phe)
|
rs1566231804
|
|
|
NM_000059.4(BRCA2):c.5146T>C (p.Tyr1716His)
|
rs1593904536
|
|
|
NM_000059.4(BRCA2):c.5155A>T (p.Asn1719Tyr)
|
rs398122794
|
|
|
NM_000059.4(BRCA2):c.516+14del
|
rs1336445194
|
|
|
NM_000059.4(BRCA2):c.516+17G>T
|
rs765435155
|
|
|
NM_000059.4(BRCA2):c.5161A>G (p.Asn1721Asp)
|
rs1443102794
|
|
|
NM_000059.4(BRCA2):c.5165G>A (p.Ser1722Asn)
|
rs773707172
|
|
|
NM_000059.4(BRCA2):c.5165G>C (p.Ser1722Thr)
|
rs773707172
|
|
|
NM_000059.4(BRCA2):c.517-12C>A
|
rs398122795
|
|
|
NM_000059.4(BRCA2):c.517-16T>C
|
rs81002839
|
|
|
NM_000059.4(BRCA2):c.5171T>C (p.Ile1724Thr)
|
rs80358743
|
|
|
NM_000059.4(BRCA2):c.5174C>T (p.Ala1725Val)
|
rs1593904638
|
|
|
NM_000059.4(BRCA2):c.5177A>G (p.Glu1726Gly)
|
|
|
|
NM_000059.4(BRCA2):c.5183A>T (p.Asp1728Val)
|
|
|
|
NM_000059.4(BRCA2):c.5185A>G (p.Lys1729Glu)
|
rs2072522644
|
|
|
NM_000059.4(BRCA2):c.5186A>G (p.Lys1729Arg)
|
rs772860507
|
|
|
NM_000059.4(BRCA2):c.5189A>G (p.Asn1730Ser)
|
rs766080044
|
|
|
NM_000059.4(BRCA2):c.5191C>T (p.His1731Tyr)
|
rs80358745
|
|
|
NM_000059.4(BRCA2):c.5192A>G (p.His1731Arg)
|
rs765259371
|
|
|
NM_000059.4(BRCA2):c.5192A>T (p.His1731Leu)
|
|
|
|
NM_000059.4(BRCA2):c.5200G>C (p.Glu1734Gln)
|
rs786202543
|
|
|
NM_000059.4(BRCA2):c.5202A>C (p.Glu1734Asp)
|
rs1243093278
|
|
|
NM_000059.4(BRCA2):c.5206C>G (p.Gln1736Glu)
|
rs886037802
|
|
|
NM_000059.4(BRCA2):c.5209G>T (p.Asp1737Tyr)
|
rs1555284106
|
|
|
NM_000059.4(BRCA2):c.5210A>G (p.Asp1737Gly)
|
rs587778120
|
|
|
NM_000059.4(BRCA2):c.5210A>T (p.Asp1737Val)
|
rs587778120
|
|
|
NM_000059.4(BRCA2):c.5213C>A (p.Thr1738Asn)
|
rs1593904785
|
|
|
NM_000059.4(BRCA2):c.5213C>T (p.Thr1738Ile)
|
rs1593904785
|
|
|
NM_000059.4(BRCA2):c.5216A>C (p.Tyr1739Ser)
|
|
|
|
NM_000059.4(BRCA2):c.5221A>G (p.Ser1741Gly)
|
rs1566232001
|
|
|
NM_000059.4(BRCA2):c.5222G>C (p.Ser1741Thr)
|
rs1555284119
|
|
|
NM_000059.4(BRCA2):c.5225_5230del (p.Asn1742_Ser1743del)
|
rs276174855
|
|
|
NM_000059.4(BRCA2):c.5226C>G (p.Asn1742Lys)
|
rs1057522266
|
|
|
NM_000059.4(BRCA2):c.5230A>G (p.Ser1744Gly)
|
rs587778121
|
|
|
NM_000059.4(BRCA2):c.5233A>G (p.Met1745Val)
|
rs786202206
|
|
|
NM_000059.4(BRCA2):c.5234T>C (p.Met1745Thr)
|
|
|
|
NM_000059.4(BRCA2):c.5240A>C (p.Asn1747Thr)
|
rs1555284128
|
|
|
NM_000059.4(BRCA2):c.5240A>T (p.Asn1747Ile)
|
rs1555284128
|
|
|
NM_000059.4(BRCA2):c.5242A>G (p.Ser1748Gly)
|
rs2072524829
|
|
|
NM_000059.4(BRCA2):c.5244C>A (p.Ser1748Arg)
|
rs398122528
|
|
|
NM_000059.4(BRCA2):c.5245T>G (p.Tyr1749Asp)
|
rs876658731
|
|
|
NM_000059.4(BRCA2):c.5246A>G (p.Tyr1749Cys)
|
|
|
|
NM_000059.4(BRCA2):c.5252A>C (p.Tyr1751Ser)
|
rs1341974678
|
|
|
NM_000059.4(BRCA2):c.5258C>T (p.Ser1753Phe)
|
rs1566232073
|
|
|
NM_000059.4(BRCA2):c.5260G>A (p.Asp1754Asn)
|
rs771571938
|
|
|
NM_000059.4(BRCA2):c.5261A>G (p.Asp1754Gly)
|
rs772772727
|
|
|
NM_000059.4(BRCA2):c.5264A>G (p.Glu1755Gly)
|
rs2137515724
|
|
|
NM_000059.4(BRCA2):c.5266G>A (p.Val1756Ile)
|
|
|
|
NM_000059.4(BRCA2):c.5266G>C (p.Val1756Leu)
|
rs876659138
|
|
|
NM_000059.4(BRCA2):c.5267T>A (p.Val1756Glu)
|
rs770664957
|
|
|
NM_000059.4(BRCA2):c.5269T>C (p.Tyr1757His)
|
rs2072525454
|
|
|
NM_000059.4(BRCA2):c.5281G>A (p.Gly1761Arg)
|
rs886038122
|
|
|
NM_000059.4(BRCA2):c.5281G>C (p.Gly1761Arg)
|
rs886038122
|
|
|
NM_000059.4(BRCA2):c.5282G>A (p.Gly1761Glu)
|
rs80358752
|
|
|
NM_000059.4(BRCA2):c.5282G>C (p.Gly1761Ala)
|
rs80358752
|
|
|
NM_000059.4(BRCA2):c.5284T>C (p.Tyr1762His)
|
rs1192019733
|
|
|
NM_000059.4(BRCA2):c.5285A>C (p.Tyr1762Ser)
|
rs80358753
|
|
|
NM_000059.4(BRCA2):c.5285A>G (p.Tyr1762Cys)
|
rs80358753
|
|
|
NM_000059.4(BRCA2):c.5293A>G (p.Lys1765Glu)
|
rs879255458
|
|
|
NM_000059.4(BRCA2):c.5299A>G (p.Lys1767Glu)
|
rs1555284159
|
|
|
NM_000059.4(BRCA2):c.52C>T (p.Arg18Cys)
|
rs786201560
|
|
|
NM_000059.4(BRCA2):c.5302C>T (p.Leu1768Phe)
|
rs2137516131
|
|
|
NM_000059.4(BRCA2):c.5307T>A (p.Asp1769Glu)
|
|
|
|
NM_000059.4(BRCA2):c.5311G>A (p.Gly1771Ser)
|
|
|
|
NM_000059.4(BRCA2):c.5312G>C (p.Gly1771Ala)
|
rs80358755
|
|
|
NM_000059.4(BRCA2):c.5312G>T (p.Gly1771Val)
|
rs80358755
|
|
|
NM_000059.4(BRCA2):c.5317G>A (p.Glu1773Lys)
|
rs1566232201
|
|
|
NM_000059.4(BRCA2):c.5317G>C (p.Glu1773Gln)
|
rs1566232201
|
|
|
NM_000059.4(BRCA2):c.5320C>T (p.Pro1774Ser)
|
rs2137516298
|
|
|
NM_000059.4(BRCA2):c.5327T>G (p.Leu1776Trp)
|
rs1566232213
|
|
|
NM_000059.4(BRCA2):c.5335G>A (p.Val1779Ile)
|
rs431825329
|
|
|
NM_000059.4(BRCA2):c.5344C>G (p.Gln1782Glu)
|
rs80358757
|
|
|
NM_000059.4(BRCA2):c.5345A>C (p.Gln1782Pro)
|
rs758959174
|
|
|
NM_000059.4(BRCA2):c.5345A>G (p.Gln1782Arg)
|
rs758959174
|
|
|
NM_000059.4(BRCA2):c.5347A>G (p.Lys1783Glu)
|
rs1555284184
|
|
|
NM_000059.4(BRCA2):c.5351A>C (p.Asn1784Thr)
|
rs2072527448
|
|
|
NM_000059.4(BRCA2):c.5352C>A (p.Asn1784Lys)
|
rs1555284187
|
|
|
NM_000059.4(BRCA2):c.5353A>G (p.Thr1785Ala)
|
rs786202394
|
|
|
NM_000059.4(BRCA2):c.5354C>T (p.Thr1785Ile)
|
rs2137516710
|
|
|
NM_000059.4(BRCA2):c.5357G>C (p.Ser1786Thr)
|
|
|
|
NM_000059.4(BRCA2):c.5361T>G (p.Phe1787Leu)
|
rs1555284194
|
|
|
NM_000059.4(BRCA2):c.5365A>C (p.Lys1789Gln)
|
rs587782240
|
|
|
NM_000059.4(BRCA2):c.5365A>G (p.Lys1789Glu)
|
rs587782240
|
|
|
NM_000059.4(BRCA2):c.5368G>C (p.Val1790Leu)
|
rs1566232328
|
|
|
NM_000059.4(BRCA2):c.5371A>G (p.Ile1791Val)
|
rs1214903860
|
|
|
NM_000059.4(BRCA2):c.5375C>A (p.Ser1792Tyr)
|
rs1555284200
|
|
|
NM_000059.4(BRCA2):c.5377A>C (p.Asn1793His)
|
rs1593905298
|
|
|
NM_000059.4(BRCA2):c.5380G>A (p.Val1794Ile)
|
|
|
|
NM_000059.4(BRCA2):c.5386G>A (p.Asp1796Asn)
|
|
|
|
NM_000059.4(BRCA2):c.5386G>T (p.Asp1796Tyr)
|
rs1064793715
|
|
|
NM_000059.4(BRCA2):c.5392A>G (p.Asn1798Asp)
|
rs1555284208
|
|
|
NM_000059.4(BRCA2):c.5393A>G (p.Asn1798Ser)
|
rs1566232376
|
|
|
NM_000059.4(BRCA2):c.5395G>T (p.Ala1799Ser)
|
|
|
|
NM_000059.4(BRCA2):c.5402C>G (p.Pro1801Arg)
|
rs1060502429
|
|
|
NM_000059.4(BRCA2):c.5405A>G (p.Gln1802Arg)
|
rs80358764
|
|
|
NM_000059.4(BRCA2):c.5406A>T (p.Gln1802His)
|
rs139302211
|
|
|
NM_000059.4(BRCA2):c.5407A>G (p.Thr1803Ala)
|
rs769627725
|
|
|
NM_000059.4(BRCA2):c.5411T>C (p.Val1804Ala)
|
rs370252983
|
|
|
NM_000059.4(BRCA2):c.5418A>C (p.Glu1806Asp)
|
rs34351119
|
|
|
NM_000059.4(BRCA2):c.5419G>A (p.Asp1807Asn)
|
|
|
|
NM_000059.4(BRCA2):c.5419G>T (p.Asp1807Tyr)
|
|
|
|
NM_000059.4(BRCA2):c.5424T>G (p.Ile1808Met)
|
rs1555284218
|
|
|
NM_000059.4(BRCA2):c.5425T>G (p.Cys1809Gly)
|
rs2072529086
|
|
|
NM_000059.4(BRCA2):c.5429T>C (p.Val1810Ala)
|
|
|
|
NM_000059.4(BRCA2):c.5431G>A (p.Glu1811Lys)
|
rs1566232430
|
|
|
NM_000059.4(BRCA2):c.5432A>C (p.Glu1811Ala)
|
rs1555284221
|
|
|
NM_000059.4(BRCA2):c.5433G>T (p.Glu1811Asp)
|
|
|
|
NM_000059.4(BRCA2):c.5437C>A (p.Leu1813Ile)
|
rs1555284228
|
|
|
NM_000059.4(BRCA2):c.5438T>C (p.Leu1813Pro)
|
rs398122532
|
|
|
NM_000059.4(BRCA2):c.5444C>T (p.Thr1815Ile)
|
rs587782031
|
|
|
NM_000059.4(BRCA2):c.5447G>T (p.Ser1816Ile)
|
|
|
|
NM_000059.4(BRCA2):c.5448C>A (p.Ser1816Arg)
|
rs1566232467
|
|
|
NM_000059.4(BRCA2):c.5449T>G (p.Ser1817Ala)
|
rs876658566
|
|
|
NM_000059.4(BRCA2):c.5450C>T (p.Ser1817Phe)
|
rs759741090
|
|
|
NM_000059.4(BRCA2):c.5456C>T (p.Pro1819Leu)
|
rs876659214
|
|
|
NM_000059.4(BRCA2):c.5458T>G (p.Cys1820Gly)
|
rs1566232493
|
|
|
NM_000059.4(BRCA2):c.5461A>G (p.Lys1821Glu)
|
rs1566232503
|
|
|
NM_000059.4(BRCA2):c.5462A>G (p.Lys1821Arg)
|
rs1555284238
|
|
|
NM_000059.4(BRCA2):c.5465A>G (p.Asn1822Ser)
|
rs587781580
|
|
|
NM_000059.4(BRCA2):c.5465A>T (p.Asn1822Ile)
|
rs587781580
|
|
|
NM_000059.4(BRCA2):c.5470A>C (p.Asn1824His)
|
rs2137517808
|
|
|
NM_000059.4(BRCA2):c.5471A>G (p.Asn1824Ser)
|
rs80358769
|
|
|
NM_000059.4(BRCA2):c.5479A>G (p.Ile1827Val)
|
rs80358770
|
|
|
NM_000059.4(BRCA2):c.5483A>G (p.Lys1828Arg)
|
rs879255459
|
|
|
NM_000059.4(BRCA2):c.5486T>C (p.Leu1829Ser)
|
rs2072530512
|
|
|
NM_000059.4(BRCA2):c.5489C>T (p.Ser1830Phe)
|
rs1593905616
|
|
|
NM_000059.4(BRCA2):c.5491A>T (p.Ile1831Leu)
|
|
|
|
NM_000059.4(BRCA2):c.5492T>C (p.Ile1831Thr)
|
rs587782007
|
|
|
NM_000059.4(BRCA2):c.5494T>C (p.Ser1832Pro)
|
rs1555284247
|
|
|
NM_000059.4(BRCA2):c.5495C>G (p.Ser1832Cys)
|
rs138489917
|
|
|
NM_000059.4(BRCA2):c.549T>C (p.Ser183=)
|
rs80359792
|
|
|
NM_000059.4(BRCA2):c.5506A>C (p.Asn1836His)
|
rs2137518120
|
|
|
NM_000059.4(BRCA2):c.5506A>G (p.Asn1836Asp)
|
|
|
|
NM_000059.4(BRCA2):c.5507A>C (p.Asn1836Thr)
|
rs80358773
|
|
|
NM_000059.4(BRCA2):c.5508T>G (p.Asn1836Lys)
|
rs80358774
|
|
|
NM_000059.4(BRCA2):c.5515G>A (p.Val1839Ile)
|
rs776630512
|
|
|
NM_000059.4(BRCA2):c.5518G>C (p.Gly1840Arg)
|
rs398122533
|
|
|
NM_000059.4(BRCA2):c.551T>C (p.Leu184Pro)
|
rs80358775
|
|
|
NM_000059.4(BRCA2):c.5524C>A (p.Pro1842Thr)
|
rs2072531201
|
|
|
NM_000059.4(BRCA2):c.5524C>T (p.Pro1842Ser)
|
|
|
|
NM_000059.4(BRCA2):c.5527G>C (p.Ala1843Pro)
|
rs863224594
|
|
|
NM_000059.4(BRCA2):c.5530T>C (p.Phe1844Leu)
|
rs2072531391
|
|
|
NM_000059.4(BRCA2):c.5531T>A (p.Phe1844Tyr)
|
|
|
|
NM_000059.4(BRCA2):c.5533A>G (p.Arg1845Gly)
|
rs1294545669
|
|
|
NM_000059.4(BRCA2):c.5534G>A (p.Arg1845Lys)
|
rs1593905700
|
|
|
NM_000059.4(BRCA2):c.5535G>C (p.Arg1845Ser)
|
rs786201997
|
|
|
NM_000059.4(BRCA2):c.5537T>A (p.Ile1846Lys)
|
rs763330257
|
|
|
NM_000059.4(BRCA2):c.5539G>A (p.Ala1847Thr)
|
rs398122534
|
|
|
NM_000059.4(BRCA2):c.5540C>G (p.Ala1847Gly)
|
rs1566232630
|
|
|
NM_000059.4(BRCA2):c.5545G>A (p.Gly1849Ser)
|
rs1555284257
|
|
|
NM_000059.4(BRCA2):c.5545_5546delinsAA (p.Gly1849Asn)
|
rs1593905736
|
|
|
NM_000059.4(BRCA2):c.5546G>C (p.Gly1849Ala)
|
rs764527357
|
|
|
NM_000059.4(BRCA2):c.5551A>T (p.Ile1851Phe)
|
rs1555284265
|
|
|
NM_000059.4(BRCA2):c.5553C>T (p.Ile1851=)
|
rs573514896
|
|
|
NM_000059.4(BRCA2):c.5554G>A (p.Val1852Ile)
|
rs80358777
|
|
|
NM_000059.4(BRCA2):c.5554G>T (p.Val1852Phe)
|
rs80358777
|
|
|
NM_000059.4(BRCA2):c.5557_5558delinsCT (p.Cys1853Leu)
|
rs587782694
|
|
|
NM_000059.4(BRCA2):c.5558G>A (p.Cys1853Tyr)
|
rs2072532051
|
|
|
NM_000059.4(BRCA2):c.5561T>C (p.Val1854Ala)
|
rs1371364232
|
|
|
NM_000059.4(BRCA2):c.5563T>G (p.Ser1855Ala)
|
|
|
|
NM_000059.4(BRCA2):c.5567A>G (p.His1856Arg)
|
rs1566232680
|
|
|
NM_000059.4(BRCA2):c.5575A>G (p.Ile1859Val)
|
rs397507354
|
|
|
NM_000059.4(BRCA2):c.5577T>G (p.Ile1859Met)
|
|
|
|
NM_000059.4(BRCA2):c.5578A>C (p.Lys1860Gln)
|
rs431825332
|
|
|
NM_000059.4(BRCA2):c.5579A>G (p.Lys1860Arg)
|
rs1555284280
|
|
|
NM_000059.4(BRCA2):c.5581A>G (p.Lys1861Glu)
|
rs1555284282
|
|
|
NM_000059.4(BRCA2):c.5583A>T (p.Lys1861Asn)
|
|
|
|
NM_000059.4(BRCA2):c.5585T>G (p.Val1862Gly)
|
rs1593905868
|
|
|
NM_000059.4(BRCA2):c.5591A>G (p.Asp1864Gly)
|
rs786202808
|
|
|
NM_000059.4(BRCA2):c.5593A>G (p.Ile1865Val)
|
rs587781455
|
|
|
NM_000059.4(BRCA2):c.5595A>G (p.Ile1865Met)
|
rs2072532958
|
|
|
NM_000059.4(BRCA2):c.5596T>C (p.Phe1866Leu)
|
rs80358779
|
|
|
NM_000059.4(BRCA2):c.5599A>C (p.Thr1867Pro)
|
rs2072533024
|
|
|
NM_000059.4(BRCA2):c.5599A>G (p.Thr1867Ala)
|
|
|
|
NM_000059.4(BRCA2):c.5602G>A (p.Asp1868Asn)
|
rs80358781
|
|
|
NM_000059.4(BRCA2):c.5602G>T (p.Asp1868Tyr)
|
rs80358781
|
|
|
NM_000059.4(BRCA2):c.5605A>C (p.Ser1869Arg)
|
rs876659256
|
|
|
NM_000059.4(BRCA2):c.5605A>G (p.Ser1869Gly)
|
rs876659256
|
|
|
NM_000059.4(BRCA2):c.5606G>A (p.Ser1869Asn)
|
rs1555284296
|
|
|
NM_000059.4(BRCA2):c.5609T>A (p.Phe1870Tyr)
|
rs1135401908
|
|
|
NM_000059.4(BRCA2):c.5610C>G (p.Phe1870Leu)
|
rs1060504598
|
|
|
NM_000059.4(BRCA2):c.5617G>A (p.Val1873Ile)
|
|
|
|
NM_000059.4(BRCA2):c.5620A>G (p.Ile1874Val)
|
rs921917607
|
|
|
NM_000059.4(BRCA2):c.5623A>C (p.Lys1875Gln)
|
rs886040600
|
|
|
NM_000059.4(BRCA2):c.5624A>G (p.Lys1875Arg)
|
rs587782583
|
|
|
NM_000059.4(BRCA2):c.5625G>T (p.Lys1875Asn)
|
rs1316343192
|
|
|
NM_000059.4(BRCA2):c.5627A>G (p.Glu1876Gly)
|
rs2137519300
|
|
|
NM_000059.4(BRCA2):c.5629A>G (p.Asn1877Asp)
|
rs1555284317
|
|
|
NM_000059.4(BRCA2):c.5630A>T (p.Asn1877Ile)
|
|
|
|
NM_000059.4(BRCA2):c.5632A>C (p.Asn1878His)
|
rs397507358
|
|
|
NM_000059.4(BRCA2):c.5634C>A (p.Asn1878Lys)
|
rs80358784
|
|
|
NM_000059.4(BRCA2):c.5635G>C (p.Glu1879Gln)
|
|
|
|
NM_000059.4(BRCA2):c.5636A>G (p.Glu1879Gly)
|
rs398122536
|
|
|
NM_000059.4(BRCA2):c.5637G>T (p.Glu1879Asp)
|
rs1057521044
|
|
|
NM_000059.4(BRCA2):c.5638A>G (p.Asn1880Asp)
|
|
|
|
NM_000059.4(BRCA2):c.5644T>C (p.Ser1882Pro)
|
rs730881538
|
|
|
NM_000059.4(BRCA2):c.5649A>C (p.Lys1883Asn)
|
rs80358787
|
|
|
NM_000059.4(BRCA2):c.5650A>G (p.Ile1884Val)
|
rs398122538
|
|
|
NM_000059.4(BRCA2):c.5650A>T (p.Ile1884Phe)
|
rs398122538
|
|
|
NM_000059.4(BRCA2):c.5651T>C (p.Ile1884Thr)
|
rs80358788
|
|
|
NM_000059.4(BRCA2):c.5652T>G (p.Ile1884Met)
|
rs766067138
|
|
|
NM_000059.4(BRCA2):c.5654G>A (p.Cys1885Tyr)
|
rs876660854
|
|
|
NM_000059.4(BRCA2):c.5654G>T (p.Cys1885Phe)
|
rs876660854
|
|
|
NM_000059.4(BRCA2):c.5655C>G (p.Cys1885Trp)
|
|
|
|
NM_000059.4(BRCA2):c.5657A>G (p.Gln1886Arg)
|
|
|
|
NM_000059.4(BRCA2):c.5659A>G (p.Thr1887Ala)
|
rs786202618
|
|
|
NM_000059.4(BRCA2):c.5660C>G (p.Thr1887Arg)
|
rs397507795
|
|
|
NM_000059.4(BRCA2):c.5661G>A (p.Thr1887=)
|
rs80359793
|
|
|
NM_000059.4(BRCA2):c.5668A>G (p.Met1890Val)
|
rs80358793
|
|
|
NM_000059.4(BRCA2):c.5669T>C (p.Met1890Thr)
|
rs80358794
|
|
|
NM_000059.4(BRCA2):c.5671G>C (p.Ala1891Pro)
|
rs587782644
|
|
|
NM_000059.4(BRCA2):c.5674G>A (p.Gly1892Ser)
|
rs786203948
|
|
|
NM_000059.4(BRCA2):c.5674G>T (p.Gly1892Cys)
|
rs786203948
|
|
|
NM_000059.4(BRCA2):c.5675G>A (p.Gly1892Asp)
|
rs786204067
|
|
|
NM_000059.4(BRCA2):c.5677T>G (p.Cys1893Gly)
|
rs786203261
|
|
|
NM_000059.4(BRCA2):c.5684A>C (p.Glu1895Ala)
|
|
|
|
NM_000059.4(BRCA2):c.5686G>C (p.Ala1896Pro)
|
rs80358795
|
|
|
NM_000059.4(BRCA2):c.5691G>T (p.Leu1897Phe)
|
rs587781826
|
|
|
NM_000059.4(BRCA2):c.5692G>T (p.Asp1898Tyr)
|
rs1476725701
|
|
|
NM_000059.4(BRCA2):c.5694T>G (p.Asp1898Glu)
|
rs876658756
|
|
|
NM_000059.4(BRCA2):c.5695G>A (p.Asp1899Asn)
|
rs371189402
|
|
|
NM_000059.4(BRCA2):c.5704G>T (p.Asp1902Tyr)
|
rs4987048
|
|
|
NM_000059.4(BRCA2):c.5705A>T (p.Asp1902Val)
|
rs2072536350
|
|
|
NM_000059.4(BRCA2):c.5707A>C (p.Ile1903Leu)
|
rs431825333
|
|
|
NM_000059.4(BRCA2):c.5707A>G (p.Ile1903Val)
|
rs431825333
|
|
|
NM_000059.4(BRCA2):c.5708T>C (p.Ile1903Thr)
|
rs149474191
|
|
|
NM_000059.4(BRCA2):c.5711T>A (p.Leu1904His)
|
rs876658494
|
|
|
NM_000059.4(BRCA2):c.5713C>A (p.His1905Asn)
|
rs1593906278
|
|
|
NM_000059.4(BRCA2):c.5713C>T (p.His1905Tyr)
|
|
|
|
NM_000059.4(BRCA2):c.5714A>C (p.His1905Pro)
|
rs80358796
|
|
|
NM_000059.4(BRCA2):c.5714A>T (p.His1905Leu)
|
rs80358796
|
|
|
NM_000059.4(BRCA2):c.5716A>G (p.Asn1906Asp)
|
rs2072536623
|
|
|
NM_000059.4(BRCA2):c.5717A>G (p.Asn1906Ser)
|
rs1555284372
|
|
|
NM_000059.4(BRCA2):c.5719T>A (p.Ser1907Thr)
|
rs753445027
|
|
|
NM_000059.4(BRCA2):c.5720C>G (p.Ser1907Cys)
|
|
|
|
NM_000059.4(BRCA2):c.5722C>G (p.Leu1908Val)
|
rs878939010
|
|
|
NM_000059.4(BRCA2):c.5725G>A (p.Asp1909Asn)
|
rs764827027
|
|
|
NM_000059.4(BRCA2):c.5728_5730del (p.Asn1910del)
|
rs28897736
|
|
|
NM_000059.4(BRCA2):c.5729A>G (p.Asn1910Ser)
|
rs276174863
|
|
|
NM_000059.4(BRCA2):c.572A>T (p.Asp191Val)
|
rs397507798
|
|
|
NM_000059.4(BRCA2):c.5733T>G (p.Asp1911Glu)
|
rs367823201
|
|
|
NM_000059.4(BRCA2):c.5737T>G (p.Cys1913Gly)
|
rs80358799
|
|
|
NM_000059.4(BRCA2):c.5738G>A (p.Cys1913Tyr)
|
rs1060502460
|
|
|
NM_000059.4(BRCA2):c.5741G>T (p.Ser1914Ile)
|
rs80358801
|
|
|
NM_000059.4(BRCA2):c.5745_5746delinsAT (p.His1916Tyr)
|
|
|
|
NM_000059.4(BRCA2):c.5746C>T (p.His1916Tyr)
|
|
|
|
NM_000059.4(BRCA2):c.5747A>G (p.His1916Arg)
|
rs431825334
|
|
|
NM_000059.4(BRCA2):c.5747A>T (p.His1916Leu)
|
|
|
|
NM_000059.4(BRCA2):c.5748T>G (p.His1916Gln)
|
rs1555284387
|
|
|
NM_000059.4(BRCA2):c.5756A>G (p.Lys1919Arg)
|
rs1593906437
|
|
|
NM_000059.4(BRCA2):c.5757G>T (p.Lys1919Asn)
|
rs1566233164
|
|
|
NM_000059.4(BRCA2):c.5759T>C (p.Val1920Ala)
|
|
|
|
NM_000059.4(BRCA2):c.575T>C (p.Met192Thr)
|
rs80358805
|
|
|
NM_000059.4(BRCA2):c.5762T>C (p.Phe1921Ser)
|
|
|
|
NM_000059.4(BRCA2):c.5763T>G (p.Phe1921Leu)
|
rs730881540
|
|
|
NM_000059.4(BRCA2):c.5764G>T (p.Ala1922Ser)
|
rs397507361
|
|
|
NM_000059.4(BRCA2):c.5767G>A (p.Asp1923Asn)
|
|
|
|
NM_000059.4(BRCA2):c.5768A>T (p.Asp1923Val)
|
rs45491005
|
|
|
NM_000059.4(BRCA2):c.5769C>A (p.Asp1923Glu)
|
rs863224309
|
|
|
NM_000059.4(BRCA2):c.5773C>G (p.Gln1925Glu)
|
rs80358806
|
|
|
NM_000059.4(BRCA2):c.5775G>C (p.Gln1925His)
|
rs1593906484
|
|
|
NM_000059.4(BRCA2):c.5777G>A (p.Ser1926Asn)
|
rs869320795
|
|
|
NM_000059.4(BRCA2):c.5778T>A (p.Ser1926Arg)
|
rs772324268
|
|
|
NM_000059.4(BRCA2):c.5779G>A (p.Glu1927Lys)
|
|
|
|
NM_000059.4(BRCA2):c.5786T>C (p.Ile1929Thr)
|
rs1555284396
|
|
|
NM_000059.4(BRCA2):c.5787T>G (p.Ile1929Met)
|
rs765881070
|
|
|
NM_000059.4(BRCA2):c.5788T>G (p.Leu1930Val)
|
rs2072538460
|
|
|
NM_000059.4(BRCA2):c.5789T>C (p.Leu1930Ser)
|
rs397507805
|
|
|
NM_000059.4(BRCA2):c.5792A>G (p.Gln1931Arg)
|
rs786202537
|
|
|
NM_000059.4(BRCA2):c.5795A>G (p.His1932Arg)
|
rs1566233236
|
|
|
NM_000059.4(BRCA2):c.5795A>T (p.His1932Leu)
|
rs1566233236
|
|
|
NM_000059.4(BRCA2):c.5796T>A (p.His1932Gln)
|
rs786203515
|
|
|
NM_000059.4(BRCA2):c.5798A>G (p.Asn1933Ser)
|
rs878853591
|
|
|
NM_000059.4(BRCA2):c.5803A>T (p.Asn1935Tyr)
|
|
|
|
NM_000059.4(BRCA2):c.5804A>G (p.Asn1935Ser)
|
rs80358808
|
|
|
NM_000059.4(BRCA2):c.5806A>G (p.Met1936Val)
|
rs1566233265
|
|
|
NM_000059.4(BRCA2):c.5807T>C (p.Met1936Thr)
|
rs1376128381
|
|
|
NM_000059.4(BRCA2):c.5813G>A (p.Gly1938Glu)
|
|
|
|
NM_000059.4(BRCA2):c.5816T>C (p.Leu1939Ser)
|
|
|
|
NM_000059.4(BRCA2):c.5819A>C (p.Glu1940Ala)
|
rs1593906648
|
|
|
NM_000059.4(BRCA2):c.5819A>G (p.Glu1940Gly)
|
rs1593906648
|
|
|
NM_000059.4(BRCA2):c.5821A>C (p.Lys1941Gln)
|
rs1555284411
|
|
|
NM_000059.4(BRCA2):c.5821A>G (p.Lys1941Glu)
|
rs1555284411
|
|
|
NM_000059.4(BRCA2):c.5831A>C (p.Lys1944Thr)
|
rs2137521445
|
|
|
NM_000059.4(BRCA2):c.5839C>G (p.Pro1947Ala)
|
rs80358812
|
|
|
NM_000059.4(BRCA2):c.5846A>G (p.Asp1949Gly)
|
rs431825336
|
|
|
NM_000059.4(BRCA2):c.5846A>T (p.Asp1949Val)
|
|
|
|
NM_000059.4(BRCA2):c.5854T>A (p.Leu1952Met)
|
|
|
|
NM_000059.4(BRCA2):c.5855T>G (p.Leu1952Trp)
|
rs375064902
|
|
|
NM_000059.4(BRCA2):c.5860A>G (p.Thr1954Ala)
|
rs1566233345
|
|
|
NM_000059.4(BRCA2):c.5861C>G (p.Thr1954Ser)
|
rs1060502413
|
|
|
NM_000059.4(BRCA2):c.5861C>T (p.Thr1954Ile)
|
rs1060502413
|
|
|
NM_000059.4(BRCA2):c.5864C>T (p.Ser1955Leu)
|
rs80358815
|
|
|
NM_000059.4(BRCA2):c.5866G>C (p.Asp1956His)
|
rs80358816
|
|
|
NM_000059.4(BRCA2):c.5867A>G (p.Asp1956Gly)
|
rs1309562690
|
|
|
NM_000059.4(BRCA2):c.5867A>T (p.Asp1956Val)
|
rs1309562690
|
|
|
NM_000059.4(BRCA2):c.5871A>G (p.Ile1957Met)
|
rs1566233369
|
|
|
NM_000059.4(BRCA2):c.5873G>A (p.Cys1958Tyr)
|
rs1168669263
|
|
|
NM_000059.4(BRCA2):c.5874T>G (p.Cys1958Trp)
|
rs1593906771
|
|
|
NM_000059.4(BRCA2):c.5878T>G (p.Cys1960Gly)
|
rs1566233377
|
|
|
NM_000059.4(BRCA2):c.5886_5887delinsTA (p.Gly1963Arg)
|
rs2072540855
|
|
|
NM_000059.4(BRCA2):c.5887G>A (p.Gly1963Arg)
|
rs1593906819
|
|
|
NM_000059.4(BRCA2):c.5888G>A (p.Gly1963Glu)
|
rs876659836
|
|
|
NM_000059.4(BRCA2):c.5891A>T (p.Lys1964Met)
|
rs80358821
|
|
|
NM_000059.4(BRCA2):c.5897A>T (p.His1966Leu)
|
rs80358823
|
|
|
NM_000059.4(BRCA2):c.5900A>G (p.Lys1967Arg)
|
rs959089047
|
|
|
NM_000059.4(BRCA2):c.5900A>T (p.Lys1967Met)
|
rs959089047
|
|
|
NM_000059.4(BRCA2):c.5902T>C (p.Ser1968Pro)
|
rs1555284455
|
|
|
NM_000059.4(BRCA2):c.5905G>A (p.Val1969Ile)
|
rs1566233487
|
|
|
NM_000059.4(BRCA2):c.5909C>T (p.Ser1970Leu)
|
rs80358824
|
|
|
NM_000059.4(BRCA2):c.5912C>T (p.Ser1971Phe)
|
rs1593906913
|
|
|
NM_000059.4(BRCA2):c.5917A>C (p.Asn1973His)
|
rs1555284460
|
|
|
NM_000059.4(BRCA2):c.5917A>T (p.Asn1973Tyr)
|
|
|
|
NM_000059.4(BRCA2):c.5923T>C (p.Cys1975Arg)
|
rs1555284462
|
|
|
NM_000059.4(BRCA2):c.5924G>A (p.Cys1975Tyr)
|
rs767378196
|
|
|
NM_000059.4(BRCA2):c.5924G>C (p.Cys1975Ser)
|
rs767378196
|
|
|
NM_000059.4(BRCA2):c.5925T>G (p.Cys1975Trp)
|
rs80358825
|
|
|
NM_000059.4(BRCA2):c.5926G>A (p.Gly1976Arg)
|
rs786204277
|
|
|
NM_000059.4(BRCA2):c.5929A>G (p.Ile1977Val)
|
rs1566233568
|
|
|
NM_000059.4(BRCA2):c.5932T>G (p.Phe1978Val)
|
rs864622526
|
|
|
NM_000059.4(BRCA2):c.5933T>C (p.Phe1978Ser)
|
|
|
|
NM_000059.4(BRCA2):c.5936G>A (p.Ser1979Asn)
|
rs1593906980
|
|
|
NM_000059.4(BRCA2):c.5938A>C (p.Thr1980Pro)
|
rs55877890
|
|
|
NM_000059.4(BRCA2):c.5939C>T (p.Thr1980Ile)
|
rs80358827
|
|
|
NM_000059.4(BRCA2):c.5945G>C (p.Ser1982Thr)
|
rs28897738
|
|
|
NM_000059.4(BRCA2):c.5954C>A (p.Ser1985Tyr)
|
rs1272409475
|
|
|
NM_000059.4(BRCA2):c.5954C>G (p.Ser1985Cys)
|
rs1272409475
|
|
|
NM_000059.4(BRCA2):c.5960A>C (p.Gln1987Pro)
|
|
|
|
NM_000059.4(BRCA2):c.5968G>A (p.Asp1990Asn)
|
rs1566233648
|
|
|
NM_000059.4(BRCA2):c.5969A>G (p.Asp1990Gly)
|
rs148618542
|
|
|
NM_000059.4(BRCA2):c.5971G>T (p.Ala1991Ser)
|
|
|
|
NM_000059.4(BRCA2):c.5981A>G (p.Gln1994Arg)
|
rs80358832
|
|
|
NM_000059.4(BRCA2):c.5984A>G (p.Asn1995Ser)
|
rs587781552
|
|
|
NM_000059.4(BRCA2):c.5986G>T (p.Ala1996Ser)
|
rs80358833
|
|
|
NM_000059.4(BRCA2):c.5986_5987delinsAT (p.Ala1996Ile)
|
rs1593907140
|
|
|
NM_000059.4(BRCA2):c.5987C>G (p.Ala1996Gly)
|
rs80358834
|
|
|
NM_000059.4(BRCA2):c.5987C>T (p.Ala1996Val)
|
rs80358834
|
|
|
NM_000059.4(BRCA2):c.5989A>G (p.Arg1997Gly)
|
rs1555284492
|
|
|
NM_000059.4(BRCA2):c.5990G>A (p.Arg1997Lys)
|
rs1064793478
|
|
|
NM_000059.4(BRCA2):c.5992C>G (p.Gln1998Glu)
|
rs397507819
|
|
|
NM_000059.4(BRCA2):c.5993A>C (p.Gln1998Pro)
|
rs80358835
|
|
|
NM_000059.4(BRCA2):c.5993A>G (p.Gln1998Arg)
|
rs80358835
|
|
|
NM_000059.4(BRCA2):c.5994A>C (p.Gln1998His)
|
rs554663691
|
|
|
NM_000059.4(BRCA2):c.5996T>A (p.Val1999Glu)
|
rs1555284494
|
|
|
NM_000059.4(BRCA2):c.59A>G (p.Asn20Ser)
|
rs398122544
|
|
|
NM_000059.4(BRCA2):c.6001T>C (p.Ser2001Pro)
|
rs939633265
|
|
|
NM_000059.4(BRCA2):c.6005A>C (p.Glu2002Ala)
|
rs2072543965
|
|
|
NM_000059.4(BRCA2):c.6007A>G (p.Ile2003Val)
|
rs1593907199
|
|
|
NM_000059.4(BRCA2):c.6008T>C (p.Ile2003Thr)
|
rs80358837
|
|
|
NM_000059.4(BRCA2):c.6014A>G (p.Asp2005Gly)
|
rs876658259
|
|
|
NM_000059.4(BRCA2):c.6015T>A (p.Asp2005Glu)
|
|
|
|
NM_000059.4(BRCA2):c.6016A>G (p.Ser2006Gly)
|
rs2072544288
|
|
|
NM_000059.4(BRCA2):c.6020C>A (p.Thr2007Asn)
|
rs397507363
|
|
|
NM_000059.4(BRCA2):c.6026A>G (p.Gln2009Arg)
|
rs1285547765
|
|
|
NM_000059.4(BRCA2):c.6028G>A (p.Val2010Ile)
|
rs1555284504
|
|
|
NM_000059.4(BRCA2):c.6035C>A (p.Ser2012Tyr)
|
rs2072544727
|
|
|
NM_000059.4(BRCA2):c.6044T>C (p.Leu2015Ser)
|
rs587776468
|
|
|
NM_000059.4(BRCA2):c.6045G>C (p.Leu2015Phe)
|
|
|
|
NM_000059.4(BRCA2):c.6049A>G (p.Lys2017Glu)
|
|
|
|
NM_000059.4(BRCA2):c.6054T>A (p.Ser2018Arg)
|
rs540799830
|
|
|
NM_000059.4(BRCA2):c.6055A>G (p.Asn2019Asp)
|
rs2137523721
|
|
|
NM_000059.4(BRCA2):c.6057C>A (p.Asn2019Lys)
|
rs147961615
|
|
|
NM_000059.4(BRCA2):c.6061C>T (p.His2021Tyr)
|
rs1566233813
|
|
|
NM_000059.4(BRCA2):c.6062A>G (p.His2021Arg)
|
rs780621780
|
|
|
NM_000059.4(BRCA2):c.6062A>T (p.His2021Leu)
|
rs780621780
|
|
|
NM_000059.4(BRCA2):c.6071A>G (p.Gln2024Arg)
|
rs80358845
|
|
|
NM_000059.4(BRCA2):c.6072G>T (p.Gln2024His)
|
rs1566233838
|
|
|
NM_000059.4(BRCA2):c.6076A>C (p.Thr2026Pro)
|
rs587782249
|
|
|
NM_000059.4(BRCA2):c.6076A>G (p.Thr2026Ala)
|
rs587782249
|
|
|
NM_000059.4(BRCA2):c.6076A>T (p.Thr2026Ser)
|
rs587782249
|
|
|
NM_000059.4(BRCA2):c.6079A>G (p.Arg2027Gly)
|
rs80358846
|
|
|
NM_000059.4(BRCA2):c.6080G>A (p.Arg2027Lys)
|
rs431825337
|
|
|
NM_000059.4(BRCA2):c.6083A>G (p.Glu2028Gly)
|
rs1555284531
|
|
|
NM_000059.4(BRCA2):c.6084A>C (p.Glu2028Asp)
|
rs747773227
|
|
|
NM_000059.4(BRCA2):c.6086A>G (p.Glu2029Gly)
|
rs80358847
|
|
|
NM_000059.4(BRCA2):c.6088A>G (p.Asn2030Asp)
|
rs1555284539
|
|
|
NM_000059.4(BRCA2):c.6092C>A (p.Thr2031Asn)
|
rs876658761
|
|
|
NM_000059.4(BRCA2):c.6092C>G (p.Thr2031Ser)
|
rs876658761
|
|
|
NM_000059.4(BRCA2):c.6094G>C (p.Ala2032Pro)
|
|
|
|
NM_000059.4(BRCA2):c.6094G>T (p.Ala2032Ser)
|
rs786203284
|
|
|
NM_000059.4(BRCA2):c.6095C>T (p.Ala2032Val)
|
rs786202701
|
|
|
NM_000059.4(BRCA2):c.6097A>T (p.Ile2033Leu)
|
|
|
|
NM_000059.4(BRCA2):c.6098T>C (p.Ile2033Thr)
|
rs398122548
|
|
|
NM_000059.4(BRCA2):c.6099A>G (p.Ile2033Met)
|
rs80358848
|
|
|
NM_000059.4(BRCA2):c.6100C>A (p.Arg2034Ser)
|
rs1799954
|
|
|
NM_000059.4(BRCA2):c.6101G>A (p.Arg2034His)
|
rs80358849
|
|
|
NM_000059.4(BRCA2):c.6106C>G (p.Pro2036Ala)
|
rs587782740
|
|
|
NM_000059.4(BRCA2):c.6107C>G (p.Pro2036Arg)
|
|
|
|
NM_000059.4(BRCA2):c.6111A>T (p.Glu2037Asp)
|
rs864622740
|
|
|
NM_000059.4(BRCA2):c.6112C>A (p.His2038Asn)
|
rs587778123
|
|
|
NM_000059.4(BRCA2):c.6112C>G (p.His2038Asp)
|
rs587778123
|
|
|
NM_000059.4(BRCA2):c.6112C>T (p.His2038Tyr)
|
rs587778123
|
|
|
NM_000059.4(BRCA2):c.6113A>G (p.His2038Arg)
|
rs786203039
|
|
|
NM_000059.4(BRCA2):c.6118A>T (p.Ile2040Leu)
|
rs80358850
|
|
|
NM_000059.4(BRCA2):c.6119T>C (p.Ile2040Thr)
|
rs876659473
|
|
|
NM_000059.4(BRCA2):c.6120A>G (p.Ile2040Met)
|
rs587781539
|
|
|
NM_000059.4(BRCA2):c.6121T>A (p.Ser2041Thr)
|
rs1160083526
|
|
|
NM_000059.4(BRCA2):c.6125A>C (p.Gln2042Pro)
|
rs80358852
|
|
|
NM_000059.4(BRCA2):c.6125A>T (p.Gln2042Leu)
|
rs80358852
|
|
|
NM_000059.4(BRCA2):c.6130G>C (p.Gly2044Arg)
|
rs1593907627
|
|
|
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala)
|
rs56191579
|
|
|
NM_000059.4(BRCA2):c.6140A>G (p.Tyr2047Cys)
|
rs730881542
|
|
|
NM_000059.4(BRCA2):c.6143A>C (p.Asn2048Thr)
|
rs80358853
|
|
|
NM_000059.4(BRCA2):c.6144T>G (p.Asn2048Lys)
|
rs587782775
|
|
|
NM_000059.4(BRCA2):c.6145G>A (p.Val2049Met)
|
rs1276100299
|
|
|
NM_000059.4(BRCA2):c.6148G>A (p.Val2050Ile)
|
rs80358854
|
|
|
NM_000059.4(BRCA2):c.6149T>C (p.Val2050Ala)
|
rs767873595
|
|
|
NM_000059.4(BRCA2):c.6152A>C (p.Asn2051Thr)
|
rs398122549
|
|
|
NM_000059.4(BRCA2):c.6152A>G (p.Asn2051Ser)
|
rs398122549
|
|
|
NM_000059.4(BRCA2):c.6154T>G (p.Ser2052Ala)
|
rs1566234040
|
|
|
NM_000059.4(BRCA2):c.6157T>C (p.Ser2053Pro)
|
|
|
|
NM_000059.4(BRCA2):c.6158C>A (p.Ser2053Tyr)
|
rs1555284574
|
|
|
NM_000059.4(BRCA2):c.6158C>G (p.Ser2053Cys)
|
rs1555284574
|
|
|
NM_000059.4(BRCA2):c.6160G>A (p.Ala2054Thr)
|
rs80358855
|
|
|
NM_000059.4(BRCA2):c.6165C>G (p.Phe2055Leu)
|
rs1555284579
|
|
|
NM_000059.4(BRCA2):c.6167C>T (p.Ser2056Phe)
|
rs2137524924
|
|
|
NM_000059.4(BRCA2):c.6170G>A (p.Gly2057Glu)
|
rs876660308
|
|
|
NM_000059.4(BRCA2):c.6170G>T (p.Gly2057Val)
|
rs876660308
|
|
|
NM_000059.4(BRCA2):c.6172T>C (p.Phe2058Leu)
|
rs80358857
|
|
|
NM_000059.4(BRCA2):c.6181G>A (p.Ala2061Thr)
|
rs1555284585
|
|
|
NM_000059.4(BRCA2):c.6182C>A (p.Ala2061Glu)
|
|
|
|
NM_000059.4(BRCA2):c.6190A>G (p.Lys2064Glu)
|
rs1593907793
|
|
|
NM_000059.4(BRCA2):c.6192G>C (p.Lys2064Asn)
|
rs786202616
|
|
|
NM_000059.4(BRCA2):c.6193C>G (p.Gln2065Glu)
|
|
|
|
NM_000059.4(BRCA2):c.6195A>C (p.Gln2065His)
|
rs876658875
|
|
|
NM_000059.4(BRCA2):c.6199T>A (p.Ser2067Thr)
|
rs143806921
|
|
|
NM_000059.4(BRCA2):c.6202A>T (p.Ile2068Phe)
|
rs755523944
|
|
|
NM_000059.4(BRCA2):c.6209A>G (p.Glu2070Gly)
|
rs1064793809
|
|
|
NM_000059.4(BRCA2):c.6210A>T (p.Glu2070Asp)
|
rs1555284596
|
|
|
NM_000059.4(BRCA2):c.6211A>C (p.Ser2071Arg)
|
rs80358860
|
|
|
NM_000059.4(BRCA2):c.6212G>A (p.Ser2071Asn)
|
rs80358861
|
|
|
NM_000059.4(BRCA2):c.6212G>T (p.Ser2071Ile)
|
rs80358861
|
|
|
NM_000059.4(BRCA2):c.6215C>T (p.Ser2072Phe)
|
rs80358862
|
|
|
NM_000059.4(BRCA2):c.6220C>T (p.His2074Tyr)
|
rs34309943
|
|
|
NM_000059.4(BRCA2):c.6221A>G (p.His2074Arg)
|
|
|
|
NM_000059.4(BRCA2):c.6222C>G (p.His2074Gln)
|
rs1555284601
|
|
|
NM_000059.4(BRCA2):c.6225A>C (p.Lys2075Asn)
|
rs80358863
|
|
|
NM_000059.4(BRCA2):c.6230A>C (p.Lys2077Thr)
|
rs955263930
|
|
|
NM_000059.4(BRCA2):c.6232G>C (p.Gly2078Arg)
|
rs1555284605
|
|
|
NM_000059.4(BRCA2):c.6233G>A (p.Gly2078Glu)
|
rs769883812
|
|
|
NM_000059.4(BRCA2):c.6235G>T (p.Val2079Leu)
|
rs886037812
|
|
|
NM_000059.4(BRCA2):c.6236T>A (p.Val2079Glu)
|
rs864622757
|
|
|
NM_000059.4(BRCA2):c.6237G>A (p.Val2079=)
|
rs864622516
|
|
|
NM_000059.4(BRCA2):c.6238T>G (p.Leu2080Val)
|
rs876658993
|
|
|
NM_000059.4(BRCA2):c.6239T>C (p.Leu2080Ser)
|
rs80358864
|
|
|
NM_000059.4(BRCA2):c.6242A>C (p.Glu2081Ala)
|
rs1593907983
|
|
|
NM_000059.4(BRCA2):c.6246A>C (p.Glu2082Asp)
|
rs1060502474
|
|
|
NM_000059.4(BRCA2):c.6249T>G (p.Phe2083Leu)
|
rs2072550078
|
|
|
NM_000059.4(BRCA2):c.6253T>G (p.Leu2085Val)
|
rs761996223
|
|
|
NM_000059.4(BRCA2):c.6255A>T (p.Leu2085Phe)
|
rs730881579
|
|
|
NM_000059.4(BRCA2):c.6257T>C (p.Ile2086Thr)
|
rs587783042
|
|
|
NM_000059.4(BRCA2):c.6263C>G (p.Thr2088Ser)
|
rs767567428
|
|
|
NM_000059.4(BRCA2):c.6266A>G (p.Glu2089Gly)
|
|
|
|
NM_000059.4(BRCA2):c.6269A>G (p.His2090Arg)
|
rs397507366
|
|
|
NM_000059.4(BRCA2):c.6269A>T (p.His2090Leu)
|
rs397507366
|
|
|
NM_000059.4(BRCA2):c.6271A>G (p.Ser2091Gly)
|
rs398122550
|
|
|
NM_000059.4(BRCA2):c.6273T>A (p.Ser2091Arg)
|
rs966360777
|
|
|
NM_000059.4(BRCA2):c.6274C>T (p.Leu2092Phe)
|
rs587779365
|
|
|
NM_000059.4(BRCA2):c.6275T>C (p.Leu2092Pro)
|
rs2072550918
|
|
|
NM_000059.4(BRCA2):c.6277C>T (p.His2093Tyr)
|
rs1593908107
|
|
|
NM_000059.4(BRCA2):c.6278A>C (p.His2093Pro)
|
rs1218113889
|
|
|
NM_000059.4(BRCA2):c.6278A>G (p.His2093Arg)
|
rs1218113889
|
|
|
NM_000059.4(BRCA2):c.6278A>T (p.His2093Leu)
|
rs1218113889
|
|
|
NM_000059.4(BRCA2):c.6281A>C (p.Tyr2094Ser)
|
rs397507838
|
|
|
NM_000059.4(BRCA2):c.6286C>T (p.Pro2096Ser)
|
rs1309257585
|
|
|
NM_000059.4(BRCA2):c.6293C>G (p.Ser2098Cys)
|
rs80358867
|
|
|
NM_000059.4(BRCA2):c.6296G>A (p.Arg2099Lys)
|
|
|
|
NM_000059.4(BRCA2):c.6296G>C (p.Arg2099Thr)
|
rs80358868
|
|
|
NM_000059.4(BRCA2):c.6298C>A (p.Gln2100Lys)
|
rs746661607
|
|
|
NM_000059.4(BRCA2):c.6301A>C (p.Asn2101His)
|
rs1430866716
|
|
|
NM_000059.4(BRCA2):c.6302A>G (p.Asn2101Ser)
|
rs1566234294
|
|
|
NM_000059.4(BRCA2):c.6304G>T (p.Val2102Leu)
|
rs80358869
|
|
|
NM_000059.4(BRCA2):c.631+7A>G
|
rs431825339
|
|
|
NM_000059.4(BRCA2):c.6310A>C (p.Lys2104Gln)
|
rs1555284629
|
|
|
NM_000059.4(BRCA2):c.6313A>C (p.Ile2105Leu)
|
rs397507368
|
|
|
NM_000059.4(BRCA2):c.6313A>G (p.Ile2105Val)
|
rs397507368
|
|
|
NM_000059.4(BRCA2):c.6314T>G (p.Ile2105Arg)
|
rs1593908217
|
|
|
NM_000059.4(BRCA2):c.6315A>G (p.Ile2105Met)
|
rs398122552
|
|
|
NM_000059.4(BRCA2):c.6316C>G (p.Leu2106Val)
|
rs876660892
|
|
|
NM_000059.4(BRCA2):c.6316C>T (p.Leu2106Phe)
|
rs876660892
|
|
|
NM_000059.4(BRCA2):c.6319C>A (p.Pro2107Thr)
|
rs1593908231
|
|
|
NM_000059.4(BRCA2):c.632-3C>A
|
rs568027879
|
|
|
NM_000059.4(BRCA2):c.6320C>T (p.Pro2107Leu)
|
|
|
|
NM_000059.4(BRCA2):c.6323G>T (p.Arg2108Leu)
|
rs35029074
|
|
|
NM_000059.4(BRCA2):c.6325G>T (p.Val2109Phe)
|
|
|
|
NM_000059.4(BRCA2):c.6328G>C (p.Asp2110His)
|
rs1593908267
|
|
|
NM_000059.4(BRCA2):c.6329A>C (p.Asp2110Ala)
|
rs80358873
|
|
|
NM_000059.4(BRCA2):c.6332A>G (p.Lys2111Arg)
|
rs2137526511
|
|
|
NM_000059.4(BRCA2):c.6337A>C (p.Asn2113His)
|
rs1555284644
|
|
|
NM_000059.4(BRCA2):c.6337A>G (p.Asn2113Asp)
|
rs1555284644
|
|
|
NM_000059.4(BRCA2):c.6340C>G (p.Pro2114Ala)
|
rs2072552879
|
|
|
NM_000059.4(BRCA2):c.6341C>T (p.Pro2114Leu)
|
rs1593908321
|
|
|
NM_000059.4(BRCA2):c.6344A>G (p.Glu2115Gly)
|
rs397507370
|
|
|
NM_000059.4(BRCA2):c.6347A>T (p.His2116Leu)
|
rs55953736
|
|
|
NM_000059.4(BRCA2):c.6350G>C (p.Cys2117Ser)
|
rs2072553110
|
|
|
NM_000059.4(BRCA2):c.6351T>G (p.Cys2117Trp)
|
rs876659368
|
|
|
NM_000059.4(BRCA2):c.6357C>G (p.Asn2119Lys)
|
rs1064794110
|
|
|
NM_000059.4(BRCA2):c.6361G>A (p.Glu2121Lys)
|
rs587782183
|
|
|
NM_000059.4(BRCA2):c.6363A>T (p.Glu2121Asp)
|
rs1555284653
|
|
|
NM_000059.4(BRCA2):c.6364A>G (p.Met2122Val)
|
rs2072553442
|
|
|
NM_000059.4(BRCA2):c.6365T>A (p.Met2122Lys)
|
rs1566234419
|
|
|
NM_000059.4(BRCA2):c.6365T>C (p.Met2122Thr)
|
rs1566234419
|
|
|
NM_000059.4(BRCA2):c.6369A>C (p.Glu2123Asp)
|
rs1064793571
|
|
|
NM_000059.4(BRCA2):c.6371A>C (p.Lys2124Thr)
|
|
|
|
NM_000059.4(BRCA2):c.6372A>C (p.Lys2124Asn)
|
rs1593908412
|
|
|
NM_000059.4(BRCA2):c.6374C>A (p.Thr2125Asn)
|
rs776937022
|
|
|
NM_000059.4(BRCA2):c.6374C>G (p.Thr2125Ser)
|
rs776937022
|
|
|
NM_000059.4(BRCA2):c.6374C>T (p.Thr2125Ile)
|
rs776937022
|
|
|
NM_000059.4(BRCA2):c.6376T>A (p.Cys2126Ser)
|
rs1566234451
|
|
|
NM_000059.4(BRCA2):c.6379A>C (p.Ser2127Arg)
|
rs876660938
|
|
|
NM_000059.4(BRCA2):c.6382A>G (p.Lys2128Glu)
|
rs80358875
|
|
|
NM_000059.4(BRCA2):c.6383A>C (p.Lys2128Thr)
|
rs398122554
|
|
|
NM_000059.4(BRCA2):c.6388T>A (p.Phe2130Ile)
|
|
|
|
NM_000059.4(BRCA2):c.6388T>C (p.Phe2130Leu)
|
rs929941099
|
|
|
NM_000059.4(BRCA2):c.6389T>G (p.Phe2130Cys)
|
rs2072554002
|
|
|
NM_000059.4(BRCA2):c.6393A>T (p.Lys2131Asn)
|
rs765669556
|
|
|
NM_000059.4(BRCA2):c.6397T>C (p.Ser2133Pro)
|
rs1566234482
|
|
|
NM_000059.4(BRCA2):c.63A>G (p.Lys21=)
|
rs1280004443
|
|
|
NM_000059.4(BRCA2):c.6400A>C (p.Asn2134His)
|
rs1434431480
|
|
|
NM_000059.4(BRCA2):c.6400A>G (p.Asn2134Asp)
|
rs1434431480
|
|
|
NM_000059.4(BRCA2):c.6406T>A (p.Leu2136Ile)
|
rs1231977477
|
|
|
NM_000059.4(BRCA2):c.6406T>G (p.Leu2136Val)
|
rs1231977477
|
|
|
NM_000059.4(BRCA2):c.6410A>G (p.Asn2137Ser)
|
rs1566234528
|
|
|
NM_000059.4(BRCA2):c.6411T>A (p.Asn2137Lys)
|
rs878853597
|
|
|
NM_000059.4(BRCA2):c.6415_6416delinsAT (p.Glu2139Ile)
|
rs1064795067
|
|
|
NM_000059.4(BRCA2):c.6417A>C (p.Glu2139Asp)
|
|
|
|
NM_000059.4(BRCA2):c.6419G>A (p.Gly2140Asp)
|
rs876659898
|
|
|
NM_000059.4(BRCA2):c.6419G>T (p.Gly2140Val)
|
rs876659898
|
|
|
NM_000059.4(BRCA2):c.6420T>G (p.Gly2140=)
|
rs80359794
|
|
|
NM_000059.4(BRCA2):c.6421G>C (p.Gly2141Arg)
|
|
|
|
NM_000059.4(BRCA2):c.6421G>T (p.Gly2141Cys)
|
rs907252547
|
|
|
NM_000059.4(BRCA2):c.6422G>T (p.Gly2141Val)
|
rs756885337
|
|
|
NM_000059.4(BRCA2):c.6423T>G (p.Gly2141=)
|
rs780721021
|
|
|
NM_000059.4(BRCA2):c.6424T>C (p.Ser2142Pro)
|
rs587782624
|
|
|
NM_000059.4(BRCA2):c.6425C>A (p.Ser2142Tyr)
|
|
|
|
NM_000059.4(BRCA2):c.6427T>C (p.Ser2143Pro)
|
rs1593908619
|
|
|
NM_000059.4(BRCA2):c.6428C>T (p.Ser2143Leu)
|
rs149330893
|
|
|
NM_000059.4(BRCA2):c.6436A>C (p.Asn2146His)
|
rs1566234599
|
|
|
NM_000059.4(BRCA2):c.6438T>G (p.Asn2146Lys)
|
rs1555284698
|
|
|
NM_000059.4(BRCA2):c.6439C>T (p.His2147Tyr)
|
rs587781476
|
|
|
NM_000059.4(BRCA2):c.6443C>G (p.Ser2148Cys)
|
|
|
|
NM_000059.4(BRCA2):c.6443C>T (p.Ser2148Phe)
|
rs80358880
|
|
|
NM_000059.4(BRCA2):c.6445A>C (p.Ile2149Leu)
|
rs786202013
|
|
|
NM_000059.4(BRCA2):c.6445A>G (p.Ile2149Val)
|
rs786202013
|
|
|
NM_000059.4(BRCA2):c.6448A>C (p.Lys2150Gln)
|
rs1403648108
|
|
|
NM_000059.4(BRCA2):c.6448A>G (p.Lys2150Glu)
|
rs1403648108
|
|
|
NM_000059.4(BRCA2):c.644A>G (p.Glu215Gly)
|
rs1198988757
|
|
|
NM_000059.4(BRCA2):c.6452T>C (p.Val2151Ala)
|
rs1064793743
|
|
|
NM_000059.4(BRCA2):c.6452T>G (p.Val2151Gly)
|
rs1064793743
|
|
|
NM_000059.4(BRCA2):c.6455C>T (p.Ser2152Phe)
|
rs80358881
|
|
|
NM_000059.4(BRCA2):c.6460T>C (p.Tyr2154His)
|
|
|
|
NM_000059.4(BRCA2):c.6463C>A (p.Leu2155Ile)
|
|
|
|
NM_000059.4(BRCA2):c.6463C>G (p.Leu2155Val)
|
rs775035051
|
|
|
NM_000059.4(BRCA2):c.6463C>T (p.Leu2155Phe)
|
rs775035051
|
|
|
NM_000059.4(BRCA2):c.6469C>G (p.Gln2157Glu)
|
rs397507859
|
|
|
NM_000059.4(BRCA2):c.6470A>G (p.Gln2157Arg)
|
rs1456778960
|
|
|
NM_000059.4(BRCA2):c.6472T>C (p.Phe2158Leu)
|
rs1566234702
|
|
|
NM_000059.4(BRCA2):c.6476A>C (p.Gln2159Pro)
|
rs763486267
|
|
|
NM_000059.4(BRCA2):c.6476A>G (p.Gln2159Arg)
|
rs763486267
|
|
|
NM_000059.4(BRCA2):c.6477A>C (p.Gln2159His)
|
|
|
|
NM_000059.4(BRCA2):c.6479A>G (p.Gln2160Arg)
|
rs587781610
|
|
|
NM_000059.4(BRCA2):c.6480A>C (p.Gln2160His)
|
|
|
|
NM_000059.4(BRCA2):c.6481G>C (p.Asp2161His)
|
rs1555284714
|
|
|
NM_000059.4(BRCA2):c.6482A>G (p.Asp2161Gly)
|
rs786201744
|
|
|
NM_000059.4(BRCA2):c.6483C>A (p.Asp2161Glu)
|
rs2072557146
|
|
|
NM_000059.4(BRCA2):c.6486A>C (p.Lys2162Asn)
|
rs751023453
|
|
|
NM_000059.4(BRCA2):c.6488A>G (p.Gln2163Arg)
|
rs1555284720
|
|
|
NM_000059.4(BRCA2):c.6495G>C (p.Leu2165Phe)
|
rs1555284722
|
|
|
NM_000059.4(BRCA2):c.6496G>A (p.Val2166Ile)
|
rs750084851
|
|
|
NM_000059.4(BRCA2):c.6496G>C (p.Val2166Leu)
|
rs750084851
|
|
|
NM_000059.4(BRCA2):c.6497T>C (p.Val2166Ala)
|
rs786202572
|
|
|
NM_000059.4(BRCA2):c.6500T>C (p.Leu2167Ser)
|
rs730881543
|
|
|
NM_000059.4(BRCA2):c.6505A>T (p.Thr2169Ser)
|
rs1471965041
|
|
|
NM_000059.4(BRCA2):c.6506C>T (p.Thr2169Ile)
|
rs1555284726
|
|
|
NM_000059.4(BRCA2):c.6508A>G (p.Lys2170Glu)
|
rs2072557860
|
|
|
NM_000059.4(BRCA2):c.6509A>G (p.Lys2170Arg)
|
rs1252272917
|
|
|
NM_000059.4(BRCA2):c.6511_6513delinsATC (p.Val2171Ile)
|
rs2072557951
|
|
|
NM_000059.4(BRCA2):c.6513G>T (p.Val2171=)
|
rs206076
|
|
|
NM_000059.4(BRCA2):c.6513_6514delinsCG (p.Ser2172Ala)
|
rs1064794089
|
|
|
NM_000059.4(BRCA2):c.6514T>C (p.Ser2172Pro)
|
|
|
|
NM_000059.4(BRCA2):c.6517C>T (p.Leu2173Phe)
|
rs1566234827
|
|
|
NM_000059.4(BRCA2):c.6520G>A (p.Val2174Ile)
|
|
|
|
NM_000059.4(BRCA2):c.6521T>C (p.Val2174Ala)
|
rs876659448
|
|
|
NM_000059.4(BRCA2):c.6523G>C (p.Glu2175Gln)
|
rs876658412
|
|
|
NM_000059.4(BRCA2):c.6524A>G (p.Glu2175Gly)
|
rs876660314
|
|
|
NM_000059.4(BRCA2):c.6529A>T (p.Ile2177Phe)
|
rs1593908997
|
|
|
NM_000059.4(BRCA2):c.6530T>C (p.Ile2177Thr)
|
rs1060502462
|
|
|
NM_000059.4(BRCA2):c.6532C>A (p.His2178Asn)
|
rs80358885
|
|
|
NM_000059.4(BRCA2):c.6535G>A (p.Val2179Ile)
|
|
|
|
NM_000059.4(BRCA2):c.6535G>C (p.Val2179Leu)
|
rs876658443
|
|
|
NM_000059.4(BRCA2):c.6538T>G (p.Leu2180Val)
|
rs730881544
|
|
|
NM_000059.4(BRCA2):c.6545A>G (p.Lys2182Arg)
|
rs1593909056
|
|
|
NM_000059.4(BRCA2):c.6547G>C (p.Glu2183Gln)
|
|
|
|
NM_000059.4(BRCA2):c.6551A>G (p.Gln2184Arg)
|
rs1216313735
|
|
|
NM_000059.4(BRCA2):c.6553G>A (p.Ala2185Thr)
|
rs746070652
|
|
|
NM_000059.4(BRCA2):c.6553G>C (p.Ala2185Pro)
|
rs746070652
|
|
|
NM_000059.4(BRCA2):c.6554C>T (p.Ala2185Val)
|
rs980859921
|
|
|
NM_000059.4(BRCA2):c.6556T>A (p.Ser2186Thr)
|
rs2072559530
|
|
|
NM_000059.4(BRCA2):c.6560C>A (p.Pro2187His)
|
|
|
|
NM_000059.4(BRCA2):c.6562A>G (p.Lys2188Glu)
|
rs1135401833
|
|
|
NM_000059.4(BRCA2):c.6563A>G (p.Lys2188Arg)
|
|
|
|
NM_000059.4(BRCA2):c.6567C>A (p.Asn2189Lys)
|
rs397507374
|
|
|
NM_000059.4(BRCA2):c.6567C>G (p.Asn2189Lys)
|
rs397507374
|
|
|
NM_000059.4(BRCA2):c.6568G>A (p.Val2190Ile)
|
rs80358888
|
|
|
NM_000059.4(BRCA2):c.6568G>C (p.Val2190Leu)
|
|
|
|
NM_000059.4(BRCA2):c.6568G>T (p.Val2190Leu)
|
rs80358888
|
|
|
NM_000059.4(BRCA2):c.6574A>G (p.Met2192Val)
|
rs926784722
|
|
|
NM_000059.4(BRCA2):c.6574A>T (p.Met2192Leu)
|
rs926784722
|
|
|
NM_000059.4(BRCA2):c.6581T>C (p.Ile2194Thr)
|
rs876660049
|
|
|
NM_000059.4(BRCA2):c.6586A>G (p.Lys2196Glu)
|
rs398122561
|
|
|
NM_000059.4(BRCA2):c.6587A>G (p.Lys2196Arg)
|
rs1555284764
|
|
|
NM_000059.4(BRCA2):c.6590C>T (p.Thr2197Ile)
|
|
|
|
NM_000059.4(BRCA2):c.6592G>C (p.Glu2198Gln)
|
|
|
|
NM_000059.4(BRCA2):c.6593A>G (p.Glu2198Gly)
|
|
|
|
NM_000059.4(BRCA2):c.6599T>C (p.Phe2200Ser)
|
rs1372423132
|
|
|
NM_000059.4(BRCA2):c.6600T>G (p.Phe2200Leu)
|
rs587781466
|
|
|
NM_000059.4(BRCA2):c.6604G>C (p.Asp2202His)
|
rs2072560535
|
|
|
NM_000059.4(BRCA2):c.6607G>T (p.Val2203Phe)
|
rs587782136
|
|
|
NM_000059.4(BRCA2):c.6610C>G (p.Pro2204Ala)
|
rs2072560609
|
|
|
NM_000059.4(BRCA2):c.6611C>A (p.Pro2204His)
|
rs1555284771
|
|
|
NM_000059.4(BRCA2):c.6611C>G (p.Pro2204Arg)
|
rs1555284771
|
|
|
NM_000059.4(BRCA2):c.6611C>T (p.Pro2204Leu)
|
rs1555284771
|
|
|
NM_000059.4(BRCA2):c.6614T>G (p.Val2205Gly)
|
rs730881546
|
|
|
NM_000059.4(BRCA2):c.6623A>G (p.Asn2208Ser)
|
rs767110818
|
|
|
NM_000059.4(BRCA2):c.6625_6626delinsGA (p.Ile2209Glu)
|
rs2072560950
|
|
|
NM_000059.4(BRCA2):c.6627A>G (p.Ile2209Met)
|
rs147275663
|
|
|
NM_000059.4(BRCA2):c.6628G>C (p.Glu2210Gln)
|
rs1555284774
|
|
|
NM_000059.4(BRCA2):c.6631G>T (p.Val2211Phe)
|
rs1060502445
|
|
|
NM_000059.4(BRCA2):c.6635G>T (p.Cys2212Phe)
|
rs1566235052
|
|
|
NM_000059.4(BRCA2):c.6637T>C (p.Ser2213Pro)
|
rs80358890
|
|
|
NM_000059.4(BRCA2):c.6638C>A (p.Ser2213Tyr)
|
|
|
|
NM_000059.4(BRCA2):c.6638C>G (p.Ser2213Cys)
|
rs75925841
|
|
|
NM_000059.4(BRCA2):c.6640A>G (p.Thr2214Ala)
|
rs377200598
|
|
|
NM_000059.4(BRCA2):c.6644A>G (p.Tyr2215Cys)
|
rs753615126
|
|
|
NM_000059.4(BRCA2):c.6647C>G (p.Ser2216Cys)
|
rs1555284777
|
|
|
NM_000059.4(BRCA2):c.6647C>T (p.Ser2216Phe)
|
rs1555284777
|
|
|
NM_000059.4(BRCA2):c.6649A>G (p.Lys2217Glu)
|
rs1555284779
|
|
|
NM_000059.4(BRCA2):c.6650A>G (p.Lys2217Arg)
|
rs1555284781
|
|
|
NM_000059.4(BRCA2):c.6652G>C (p.Asp2218His)
|
rs730881547
|
|
|
NM_000059.4(BRCA2):c.6653A>T (p.Asp2218Val)
|
rs2072561785
|
|
|
NM_000059.4(BRCA2):c.6659A>G (p.Glu2220Gly)
|
rs1555284784
|
|
|
NM_000059.4(BRCA2):c.6670G>C (p.Glu2224Gln)
|
|
|
|
NM_000059.4(BRCA2):c.6673A>G (p.Thr2225Ala)
|
|
|
|
NM_000059.4(BRCA2):c.6674C>A (p.Thr2225Lys)
|
rs786203437
|
|
|
NM_000059.4(BRCA2):c.6677A>G (p.Glu2226Gly)
|
rs1281267586
|
|
|
NM_000059.4(BRCA2):c.6679G>A (p.Ala2227Thr)
|
rs431825345
|
|
|
NM_000059.4(BRCA2):c.6682G>A (p.Val2228Ile)
|
rs1593909466
|
|
|
NM_000059.4(BRCA2):c.6682G>C (p.Val2228Leu)
|
rs1593909466
|
|
|
NM_000059.4(BRCA2):c.6683T>G (p.Val2228Gly)
|
|
|
|
NM_000059.4(BRCA2):c.6688A>G (p.Ile2230Val)
|
rs587779366
|
|
|
NM_000059.4(BRCA2):c.6690T>G (p.Ile2230Met)
|
|
|
|
NM_000059.4(BRCA2):c.6691G>A (p.Ala2231Thr)
|
rs758379999
|
|
|
NM_000059.4(BRCA2):c.6691G>C (p.Ala2231Pro)
|
rs758379999
|
|
|
NM_000059.4(BRCA2):c.6694A>G (p.Lys2232Glu)
|
rs781219481
|
|
|
NM_000059.4(BRCA2):c.6697G>C (p.Ala2233Pro)
|
rs1060502396
|
|
|
NM_000059.4(BRCA2):c.67+16A>T
|
rs529148674
|
|
|
NM_000059.4(BRCA2):c.6700T>C (p.Phe2234Leu)
|
rs769956199
|
|
|
NM_000059.4(BRCA2):c.6703A>G (p.Met2235Val)
|
rs2072563047
|
|
|
NM_000059.4(BRCA2):c.6707A>G (p.Glu2236Gly)
|
rs1555284803
|
|
|
NM_000059.4(BRCA2):c.6712G>A (p.Asp2238Asn)
|
rs749590229
|
|
|
NM_000059.4(BRCA2):c.6714T>A (p.Asp2238Glu)
|
rs28897742
|
|
|
NM_000059.4(BRCA2):c.6714T>G (p.Asp2238Glu)
|
rs28897742
|
|
|
NM_000059.4(BRCA2):c.6715G>A (p.Glu2239Lys)
|
rs276174876
|
|
|
NM_000059.4(BRCA2):c.6715G>C (p.Glu2239Gln)
|
rs276174876
|
|
|
NM_000059.4(BRCA2):c.6722C>G (p.Thr2241Arg)
|
rs276174877
|
|
|
NM_000059.4(BRCA2):c.6725A>G (p.Asp2242Gly)
|
rs1593909627
|
|
|
NM_000059.4(BRCA2):c.6727T>C (p.Ser2243Pro)
|
rs1555284829
|
|
|
NM_000059.4(BRCA2):c.6728C>A (p.Ser2243Tyr)
|
|
|
|
NM_000059.4(BRCA2):c.6728C>G (p.Ser2243Cys)
|
rs876659031
|
|
|
NM_000059.4(BRCA2):c.6733C>A (p.Leu2245Met)
|
rs876658421
|
|
|
NM_000059.4(BRCA2):c.6737C>G (p.Pro2246Arg)
|
rs587782038
|
|
|
NM_000059.4(BRCA2):c.6741T>A (p.Ser2247Arg)
|
rs80358898
|
|
|
NM_000059.4(BRCA2):c.6742C>A (p.His2248Asn)
|
|
|
|
NM_000059.4(BRCA2):c.6742C>T (p.His2248Tyr)
|
|
|
|
NM_000059.4(BRCA2):c.6743A>G (p.His2248Arg)
|
rs1064793995
|
|
|
NM_000059.4(BRCA2):c.6744T>A (p.His2248Gln)
|
rs1555284842
|
|
|
NM_000059.4(BRCA2):c.6745G>A (p.Ala2249Thr)
|
rs587781435
|
|
|
NM_000059.4(BRCA2):c.6752A>G (p.His2251Arg)
|
rs1555284844
|
|
|
NM_000059.4(BRCA2):c.6755C>G (p.Ser2252Cys)
|
rs876658504
|
|
|
NM_000059.4(BRCA2):c.6757C>G (p.Leu2253Val)
|
rs1555284846
|
|
|
NM_000059.4(BRCA2):c.6757C>T (p.Leu2253Phe)
|
|
|
|
NM_000059.4(BRCA2):c.6761T>A (p.Phe2254Tyr)
|
rs786202915
|
|
|
NM_000059.4(BRCA2):c.6761T>G (p.Phe2254Cys)
|
rs786202915
|
|
|
NM_000059.4(BRCA2):c.6764C>T (p.Thr2255Ile)
|
|
|
|
NM_000059.4(BRCA2):c.6766T>A (p.Cys2256Ser)
|
rs559106452
|
|
|
NM_000059.4(BRCA2):c.6766T>C (p.Cys2256Arg)
|
rs559106452
|
|
|
NM_000059.4(BRCA2):c.6767G>A (p.Cys2256Tyr)
|
rs80358900
|
|
|
NM_000059.4(BRCA2):c.6767G>C (p.Cys2256Ser)
|
|
|
|
NM_000059.4(BRCA2):c.6769C>A (p.Pro2257Thr)
|
|
|
|
NM_000059.4(BRCA2):c.676A>G (p.Thr226Ala)
|
rs80358902
|
|
|
NM_000059.4(BRCA2):c.6770C>G (p.Pro2257Arg)
|
rs80358903
|
|
|
NM_000059.4(BRCA2):c.6776A>T (p.Asn2259Ile)
|
|
|
|
NM_000059.4(BRCA2):c.6778G>A (p.Glu2260Lys)
|
rs1555284853
|
|
|
NM_000059.4(BRCA2):c.6781G>A (p.Glu2261Lys)
|
rs876660812
|
|
|
NM_000059.4(BRCA2):c.6787G>A (p.Val2263Ile)
|
rs1566235410
|
|
|
NM_000059.4(BRCA2):c.6792G>C (p.Leu2264Phe)
|
rs756182263
|
|
|
NM_000059.4(BRCA2):c.6796A>C (p.Asn2266His)
|
rs80358905
|
|
|
NM_000059.4(BRCA2):c.6797A>G (p.Asn2266Ser)
|
|
|
|
NM_000059.4(BRCA2):c.6799T>A (p.Ser2267Thr)
|
|
|
|
NM_000059.4(BRCA2):c.68-6A>T
|
rs1555280325
|
|
|
NM_000059.4(BRCA2):c.68-7del
|
rs276174878
|
|
|
NM_000059.4(BRCA2):c.6805A>C (p.Ile2269Leu)
|
rs1300492434
|
|
|
NM_000059.4(BRCA2):c.6806T>A (p.Ile2269Asn)
|
|
|
|
NM_000059.4(BRCA2):c.6813A>T (p.Lys2271Asn)
|
|
|
|
NM_000059.4(BRCA2):c.6814A>G (p.Arg2272Gly)
|
|
|
|
NM_000059.4(BRCA2):c.6817A>G (p.Arg2273Gly)
|
rs1566235443
|
|
|
NM_000059.4(BRCA2):c.6818G>A (p.Arg2273Lys)
|
rs587782174
|
|
|
NM_000059.4(BRCA2):c.682-12_682-11del
|
rs276174879
|
|
|
NM_000059.4(BRCA2):c.682-15C>T
|
rs864622084
|
|
|
NM_000059.4(BRCA2):c.6820G>A (p.Gly2274Arg)
|
|
|
|
NM_000059.4(BRCA2):c.6823G>A (p.Glu2275Lys)
|
rs587782362
|
|
|
NM_000059.4(BRCA2):c.6823G>C (p.Glu2275Gln)
|
|
|
|
NM_000059.4(BRCA2):c.6826C>A (p.Pro2276Thr)
|
rs80358907
|
|
|
NM_000059.4(BRCA2):c.6826C>T (p.Pro2276Ser)
|
rs80358907
|
|
|
NM_000059.4(BRCA2):c.6829C>G (p.Leu2277Val)
|
rs786202214
|
|
|
NM_000059.4(BRCA2):c.6829C>T (p.Leu2277Phe)
|
rs786202214
|
|
|
NM_000059.4(BRCA2):c.6830T>G (p.Leu2277Arg)
|
|
|
|
NM_000059.4(BRCA2):c.6832A>C (p.Ile2278Leu)
|
rs772645059
|
|
|
NM_000059.4(BRCA2):c.6833T>C (p.Ile2278Thr)
|
|
|
|
NM_000059.4(BRCA2):c.6833T>G (p.Ile2278Ser)
|
rs1555284865
|
|
|
NM_000059.4(BRCA2):c.6839T>C (p.Val2280Ala)
|
rs1566235479
|
|
|
NM_000059.4(BRCA2):c.6841+3A>T
|
rs81002825
|
|
|
NM_000059.4(BRCA2):c.6841+8T>G
|
rs2137531137
|
|
|
NM_000059.4(BRCA2):c.6842-20T>C
|
rs81002811
|
|
|
NM_000059.4(BRCA2):c.6871A>G (p.Asn2291Asp)
|
rs80358911
|
|
|
NM_000059.4(BRCA2):c.6886A>C (p.Ile2296Leu)
|
rs576279166
|
|
|
NM_000059.4(BRCA2):c.6915G>A (p.Lys2305=)
|
rs1555285156
|
|
|
NM_000059.4(BRCA2):c.6916G>C (p.Ala2306Pro)
|
rs730881550
|
|
|
NM_000059.4(BRCA2):c.6937+17A>T
|
rs1057522185
|
|
|
NM_000059.4(BRCA2):c.6937+5A>G
|
rs397507379
|
|
|
NM_000059.4(BRCA2):c.6938-15A>G
|
rs587782358
|
|
|
NM_000059.4(BRCA2):c.6971A>G (p.His2324Arg)
|
rs398122574
|
|
|
NM_000059.4(BRCA2):c.6979T>C (p.Leu2327=)
|
rs959097768
|
|
|
NM_000059.4(BRCA2):c.6988A>G (p.Ile2330Val)
|
rs876661032
|
|
|
NM_000059.4(BRCA2):c.7007+7_7007+8del
|
rs1555285373
|
|
|
NM_000059.4(BRCA2):c.7008-13C>T
|
rs81002792
|
|
|
NM_000059.4(BRCA2):c.7008-5T>C
|
rs397507380
|
|
|
NM_000059.4(BRCA2):c.7008-9C>T
|
rs186220967
|
|
|
NM_000059.4(BRCA2):c.7051G>T (p.Ala2351Ser)
|
rs80358930
|
|
|
NM_000059.4(BRCA2):c.7056T>A (p.Pro2352=)
|
rs276174888
|
|
|
NM_000059.4(BRCA2):c.7095T>A (p.His2365Gln)
|
rs370708814
|
|
|
NM_000059.4(BRCA2):c.7141C>G (p.Pro2381Ala)
|
rs777305503
|
|
|
NM_000059.4(BRCA2):c.7152A>G (p.Gln2384=)
|
rs80359796
|
|
|
NM_000059.4(BRCA2):c.7163C>T (p.Thr2388Ile)
|
rs1555286026
|
|
|
NM_000059.4(BRCA2):c.7188G>A (p.Leu2396=)
|
rs587780871
|
|
|
NM_000059.4(BRCA2):c.7188G>T (p.Leu2396Phe)
|
rs587780871
|
|
|
NM_000059.4(BRCA2):c.7252A>G (p.Arg2418Gly)
|
rs80358953
|
|
|
NM_000059.4(BRCA2):c.7277T>C (p.Ile2426Thr)
|
rs1555286064
|
|
|
NM_000059.4(BRCA2):c.7313A>G (p.Asp2438Gly)
|
rs80358957
|
|
|
NM_000059.4(BRCA2):c.7331A>T (p.Asp2444Val)
|
rs431825352
|
|
|
NM_000059.4(BRCA2):c.7354A>G (p.Asn2452Asp)
|
rs398122580
|
|
|
NM_000059.4(BRCA2):c.7370T>G (p.Phe2457Cys)
|
rs876661273
|
|
|
NM_000059.4(BRCA2):c.7373A>G (p.Asn2458Ser)
|
rs786202262
|
|
|
NM_000059.4(BRCA2):c.7436-10T>C
|
rs398122582
|
|
|
NM_000059.4(BRCA2):c.7457A>G (p.Asn2486Ser)
|
rs786203755
|
|
|
NM_000059.4(BRCA2):c.7462A>G (p.Arg2488Gly)
|
rs746057464
|
|
|
NM_000059.4(BRCA2):c.7464A>C (p.Arg2488Ser)
|
rs80358969
|
|
|
NM_000059.4(BRCA2):c.7499G>C (p.Arg2500Thr)
|
rs80358976
|
|
|
NM_000059.4(BRCA2):c.752C>G (p.Thr251Arg)
|
rs587781513
|
|
|
NM_000059.4(BRCA2):c.7547C>G (p.Ser2516Cys)
|
rs571800995
|
|
|
NM_000059.4(BRCA2):c.7547C>T (p.Ser2516Phe)
|
rs571800995
|
|
|
NM_000059.4(BRCA2):c.7559G>C (p.Arg2520Pro)
|
rs80358982
|
|
|
NM_000059.4(BRCA2):c.7559G>T (p.Arg2520Leu)
|
rs80358982
|
|
|
NM_000059.4(BRCA2):c.7563C>A (p.Ile2521=)
|
rs786204282
|
|
|
NM_000059.4(BRCA2):c.7580T>C (p.Val2527Ala)
|
rs587782676
|
|
|
NM_000059.4(BRCA2):c.7598C>G (p.Ser2533Cys)
|
rs80358987
|
|
|
NM_000059.4(BRCA2):c.7618-21G>T
|
rs376957350
|
|
|
NM_000059.4(BRCA2):c.7618-6G>T
|
rs1057520251
|
|
|
NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met)
|
rs80358989
|
|
|
NM_000059.4(BRCA2):c.7630G>A (p.Gly2544Ser)
|
rs587781485
|
|
|
NM_000059.4(BRCA2):c.7630G>C (p.Gly2544Arg)
|
rs587781485
|
|
|
NM_000059.4(BRCA2):c.7648A>G (p.Ile2550Val)
|
rs41293507
|
|
|
NM_000059.4(BRCA2):c.7744G>A (p.Ala2582Thr)
|
rs876660384
|
|
|
NM_000059.4(BRCA2):c.7751G>A (p.Gly2584Asp)
|
rs80359001
|
|
|
NM_000059.4(BRCA2):c.7762A>G (p.Ile2588Val)
|
rs2137567485
|
|
|
NM_000059.4(BRCA2):c.7764A>T (p.Ile2588=)
|
rs80359798
|
|
|
NM_000059.4(BRCA2):c.7767C>T (p.Pro2589=)
|
rs2072711060
|
|
|
NM_000059.4(BRCA2):c.777A>G (p.Arg259=)
|
rs431825356
|
|
|
NM_000059.4(BRCA2):c.7832A>G (p.Asp2611Gly)
|
rs80359010
|
|
|
NM_000059.4(BRCA2):c.7883T>C (p.Ile2628Thr)
|
rs879255465
|
|
|
NM_000059.4(BRCA2):c.7895C>T (p.Ala2632Val)
|
rs765839296
|
|
|
NM_000059.4(BRCA2):c.7915C>A (p.Pro2639Thr)
|
rs80359017
|
|
|
NM_000059.4(BRCA2):c.7915C>G (p.Pro2639Ala)
|
rs80359017
|
|
|
NM_000059.4(BRCA2):c.7924T>C (p.Phe2642Leu)
|
rs1555286856
|
|
|
NM_000059.4(BRCA2):c.7925T>G (p.Phe2642Cys)
|
rs1287337540
|
|
|
NM_000059.4(BRCA2):c.7933A>G (p.Arg2645Gly)
|
rs876658889
|
|
|
NM_000059.4(BRCA2):c.7938C>G (p.Cys2646Trp)
|
rs1064794927
|
|
|
NM_000059.4(BRCA2):c.793G>A (p.Gly265Arg)
|
rs1403242422
|
|
|
NM_000059.4(BRCA2):c.7947A>G (p.Pro2649=)
|
rs80359799
|
|
|
NM_000059.4(BRCA2):c.797T>A (p.Phe266Tyr)
|
|
|
|
NM_000059.4(BRCA2):c.797T>G (p.Phe266Cys)
|
rs1566222067
|
|
|
NM_000059.4(BRCA2):c.7985C>T (p.Thr2662Met)
|
rs431825362
|
|
|
NM_000059.4(BRCA2):c.7992T>C (p.Ile2664=)
|
rs80359800
|
|
|
NM_000059.4(BRCA2):c.7992T>G (p.Ile2664Met)
|
rs80359800
|
|
|
NM_000059.4(BRCA2):c.7993G>T (p.Asp2665Tyr)
|
rs921017191
|
|
|
NM_000059.4(BRCA2):c.8007A>T (p.Arg2669Ser)
|
rs143999963
|
|
|
NM_000059.4(BRCA2):c.8011G>T (p.Ala2671Ser)
|
rs786201976
|
|
|
NM_000059.4(BRCA2):c.8039A>G (p.Asp2680Gly)
|
rs80359042
|
|
|
NM_000059.4(BRCA2):c.8040C>G (p.Asp2680Glu)
|
rs876660013
|
|
|
NM_000059.4(BRCA2):c.805A>G (p.Thr269Ala)
|
|
|
|
NM_000059.4(BRCA2):c.8084C>T (p.Ser2695Leu)
|
rs80359048
|
|
|
NM_000059.4(BRCA2):c.8115C>G (p.Ser2705Arg)
|
rs587781889
|
|
|
NM_000059.4(BRCA2):c.8128A>G (p.Ser2710Gly)
|
rs398122597
|
|
|
NM_000059.4(BRCA2):c.814A>G (p.Asn272Asp)
|
rs398122598
|
|
|
NM_000059.4(BRCA2):c.8182G>C (p.Val2728Leu)
|
rs28897749
|
|
|
NM_000059.4(BRCA2):c.8187G>A (p.Lys2729=)
|
rs80359065
|
|
|
NM_000059.4(BRCA2):c.8192A>G (p.Gln2731Arg)
|
rs753837544
|
|
|
NM_000059.4(BRCA2):c.822T>A (p.Phe274Leu)
|
rs1566222119
|
|
|
NM_000059.4(BRCA2):c.8233C>G (p.Leu2745Val)
|
rs786201752
|
|
|
NM_000059.4(BRCA2):c.8299C>T (p.Pro2767Ser)
|
rs587782619
|
|
|
NM_000059.4(BRCA2):c.8303T>A (p.Leu2768His)
|
rs587782732
|
|
|
NM_000059.4(BRCA2):c.8303T>C (p.Leu2768Pro)
|
rs587782732
|
|
|
NM_000059.4(BRCA2):c.8309C>A (p.Ala2770Asp)
|
rs28897750
|
|
|
NM_000059.4(BRCA2):c.8321T>C (p.Leu2774Pro)
|
rs786203278
|
|
|
NM_000059.4(BRCA2):c.8324T>C (p.Met2775Thr)
|
rs80359073
|
|
|
NM_000059.4(BRCA2):c.8324T>G (p.Met2775Arg)
|
rs80359073
|
|
|
NM_000059.4(BRCA2):c.832A>G (p.Ser278Gly)
|
rs2137465127
|
|
|
NM_000059.4(BRCA2):c.8331+16C>T
|
rs730881595
|
|
|
NM_000059.4(BRCA2):c.833G>T (p.Ser278Ile)
|
rs876659712
|
|
|
NM_000059.4(BRCA2):c.8355T>C (p.Pro2785=)
|
rs1057524419
|
|
|
NM_000059.4(BRCA2):c.8366A>G (p.Tyr2789Cys)
|
rs398122603
|
|
|
NM_000059.4(BRCA2):c.8368A>T (p.Thr2790Ser)
|
rs80359081
|
|
|
NM_000059.4(BRCA2):c.836G>T (p.Cys279Phe)
|
rs431825364
|
|
|
NM_000059.4(BRCA2):c.837C>G (p.Cys279Trp)
|
rs587781421
|
|
|
NM_000059.4(BRCA2):c.838A>C (p.Lys280Gln)
|
rs80359085
|
|
|
NM_000059.4(BRCA2):c.838A>G (p.Lys280Glu)
|
rs80359085
|
|
|
NM_000059.4(BRCA2):c.8398C>T (p.Pro2800Ser)
|
rs80359086
|
|
|
NM_000059.4(BRCA2):c.8407C>T (p.Leu2803=)
|
rs1555287631
|
|
|
NM_000059.4(BRCA2):c.842A>G (p.Asp281Gly)
|
rs1555281610
|
|
|
NM_000059.4(BRCA2):c.8447G>A (p.Gly2816Asp)
|
rs56096120
|
|
|
NM_000059.4(BRCA2):c.8479C>G (p.Pro2827Ala)
|
rs786202484
|
|
|
NM_000059.4(BRCA2):c.8487+47C>T
|
rs11571744
|
|
|
NM_000059.4(BRCA2):c.8487+4T>C
|
rs81002801
|
|
|
NM_000059.4(BRCA2):c.8488-3C>T
|
rs1566249158
|
|
|
NM_000059.4(BRCA2):c.8488-5T>C
|
rs533806629
|
|
|
NM_000059.4(BRCA2):c.848T>C (p.Ile283Thr)
|
rs730881507
|
|
|
NM_000059.4(BRCA2):c.8525G>T (p.Arg2842Leu)
|
rs80359105
|
|
|
NM_000059.4(BRCA2):c.8530G>A (p.Glu2844Lys)
|
rs755783122
|
|
|
NM_000059.4(BRCA2):c.853A>G (p.Lys285Glu)
|
rs2072398689
|
|
|
NM_000059.4(BRCA2):c.8554G>A (p.Ala2852Thr)
|
rs1555287769
|
|
|
NM_000059.4(BRCA2):c.8559A>G (p.Lys2853=)
|
rs1057520669
|
|
|
NM_000059.4(BRCA2):c.855G>T (p.Lys285Asn)
|
rs1389778857
|
|
|
NM_000059.4(BRCA2):c.8572C>A (p.Gln2858Lys)
|
rs80359112
|
|
|
NM_000059.4(BRCA2):c.8593T>G (p.Leu2865Val)
|
rs80359117
|
|
|
NM_000059.4(BRCA2):c.860T>A (p.Met287Lys)
|
rs2072398884
|
|
|
NM_000059.4(BRCA2):c.861G>A (p.Met287Ile)
|
rs1555281614
|
|
|
NM_000059.4(BRCA2):c.862C>T (p.Pro288Ser)
|
rs1464889530
|
|
|
NM_000059.4(BRCA2):c.8632+6A>G
|
rs81002894
|
|
|
NM_000059.4(BRCA2):c.8633-19_8633-17del
|
rs770871854
|
|
|
NM_000059.4(BRCA2):c.8633-4T>A
|
rs397507407
|
|
|
NM_000059.4(BRCA2):c.865A>G (p.Asn289Asp)
|
rs766173
|
|
|
NM_000059.4(BRCA2):c.866A>G (p.Asn289Ser)
|
rs1593891336
|
|
|
NM_000059.4(BRCA2):c.8699A>T (p.Asp2900Val)
|
rs398122712
|
|
|
NM_000059.4(BRCA2):c.869T>G (p.Val290Gly)
|
rs587781431
|
|
|
NM_000059.4(BRCA2):c.8754+9G>A
|
rs749435255
|
|
|
NM_000059.4(BRCA2):c.8766T>G (p.Ser2922Arg)
|
rs1060502497
|
|
|
NM_000059.4(BRCA2):c.8775G>C (p.Gln2925His)
|
rs80359136
|
|
|
NM_000059.4(BRCA2):c.8808G>C (p.Leu2936Phe)
|
rs80359138
|
|
|
NM_000059.4(BRCA2):c.881A>C (p.Glu294Ala)
|
|
|
|
NM_000059.4(BRCA2):c.883G>A (p.Val295Ile)
|
rs1254525537
|
|
|
NM_000059.4(BRCA2):c.883G>T (p.Val295Leu)
|
rs1254525537
|
|
|
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn)
|
rs28897754
|
|
|
NM_000059.4(BRCA2):c.8854A>G (p.Met2952Val)
|
rs397508016
|
|
|
NM_000059.4(BRCA2):c.886T>C (p.Tyr296His)
|
rs1347459118
|
|
|
NM_000059.4(BRCA2):c.8897T>C (p.Val2966Ala)
|
rs876658955
|
|
|
NM_000059.4(BRCA2):c.890A>G (p.Glu297Gly)
|
rs765756715
|
|
|
NM_000059.4(BRCA2):c.892A>C (p.Thr298Pro)
|
|
|
|
NM_000059.4(BRCA2):c.8941G>A (p.Glu2981Lys)
|
rs139052578
|
|
|
NM_000059.4(BRCA2):c.8944A>C (p.Lys2982Gln)
|
rs80359145
|
|
|
NM_000059.4(BRCA2):c.8952A>G (p.Ser2984=)
|
rs876660709
|
|
|
NM_000059.4(BRCA2):c.8954-5_8954-2del
|
rs587782878
|
|
|
NM_000059.4(BRCA2):c.895G>A (p.Val299Ile)
|
rs2072399652
|
|
|
NM_000059.4(BRCA2):c.898G>A (p.Val300Ile)
|
rs878853616
|
|
|
NM_000059.4(BRCA2):c.898G>T (p.Val300Leu)
|
rs878853616
|
|
|
NM_000059.4(BRCA2):c.9006A>T (p.Glu3002Asp)
|
rs80359153
|
|
|
NM_000059.4(BRCA2):c.9011A>G (p.Lys3004Arg)
|
rs587782779
|
|
|
NM_000059.4(BRCA2):c.901G>A (p.Asp301Asn)
|
rs1555281626
|
|
|
NM_000059.4(BRCA2):c.9043A>G (p.Lys3015Glu)
|
rs587781497
|
|
|
NM_000059.4(BRCA2):c.9052_9057del (p.3015KS[2])
|
rs786202063
|
|
|
NM_000059.4(BRCA2):c.905C>G (p.Thr302Ser)
|
rs80359158
|
|
|
NM_000059.4(BRCA2):c.905C>T (p.Thr302Ile)
|
rs80359158
|
|
|
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser)
|
rs80359165
|
|
|
NM_000059.4(BRCA2):c.9104A>G (p.Tyr3035Cys)
|
rs80359165
|
|
|
NM_000059.4(BRCA2):c.910G>A (p.Glu304Lys)
|
rs1593891461
|
|
|
NM_000059.4(BRCA2):c.9113_9115dup (p.Leu3038dup)
|
rs80359749
|
|
|
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu)
|
rs80359167
|
|
|
NM_000059.4(BRCA2):c.9117+12T>A
|
rs1212956665
|
|
|
NM_000059.4(BRCA2):c.9117+9C>T
|
rs81002869
|
|
|
NM_000059.4(BRCA2):c.9118-14T>C
|
rs81002815
|
|
|
NM_000059.4(BRCA2):c.9118-6C>T
|
rs81002890
|
|
|
NM_000059.4(BRCA2):c.913G>A (p.Glu305Lys)
|
rs80359169
|
|
|
NM_000059.4(BRCA2):c.9160C>T (p.Pro3054Ser)
|
rs786204070
|
|
|
NM_000059.4(BRCA2):c.916G>A (p.Asp306Asn)
|
rs781169306
|
|
|
NM_000059.4(BRCA2):c.9175A>G (p.Lys3059Glu)
|
rs80359174
|
|
|
NM_000059.4(BRCA2):c.917A>G (p.Asp306Gly)
|
rs1593891489
|
|
|
NM_000059.4(BRCA2):c.9205T>G (p.Cys3069Gly)
|
rs398122611
|
|
|
NM_000059.4(BRCA2):c.9209C>T (p.Ser3070Phe)
|
rs747837583
|
|
|
NM_000059.4(BRCA2):c.920G>T (p.Ser307Ile)
|
|
|
|
NM_000059.4(BRCA2):c.9213G>T (p.Glu3071Asp)
|
rs80359184
|
|
|
NM_000059.4(BRCA2):c.921T>A (p.Ser307Arg)
|
rs1555281636
|
|
|
NM_000059.4(BRCA2):c.9257-10del
|
rs276174919
|
|
|
NM_000059.4(BRCA2):c.9257-10dup
|
rs276174919
|
|
|
NM_000059.4(BRCA2):c.9257-8C>T
|
rs11571819
|
|
|
NM_000059.4(BRCA2):c.9257G>C (p.Gly3086Ala)
|
rs574271678
|
|
|
NM_000059.4(BRCA2):c.925T>C (p.Ser309Pro)
|
|
|
|
NM_000059.4(BRCA2):c.9286G>A (p.Glu3096Lys)
|
rs80359199
|
|
|
NM_000059.4(BRCA2):c.9307A>G (p.Ile3103Val)
|
rs80359203
|
|
|
NM_000059.4(BRCA2):c.9320T>C (p.Ile3107Thr)
|
rs397507425
|
|
|
NM_000059.4(BRCA2):c.9334G>A (p.Asp3112Asn)
|
rs759851035
|
|
|
NM_000059.4(BRCA2):c.9344A>G (p.Lys3115Arg)
|
rs276174923
|
|
|
NM_000059.4(BRCA2):c.9364G>A (p.Ala3122Thr)
|
rs587782313
|
|
|
NM_000059.4(BRCA2):c.9375C>G (p.Leu3125=)
|
rs276174924
|
|
|
NM_000059.4(BRCA2):c.938C>G (p.Ser313Cys)
|
|
|
|
NM_000059.4(BRCA2):c.939T>C (p.Ser313=)
|
rs1593891536
|
|
|
NM_000059.4(BRCA2):c.9403C>A (p.Leu3135Ile)
|
rs55704151
|
|
|
NM_000059.4(BRCA2):c.9414A>G (p.Leu3138=)
|
rs80359807
|
|
|
NM_000059.4(BRCA2):c.9421G>A (p.Gly3141Arg)
|
rs1566259143
|
|
|
NM_000059.4(BRCA2):c.9433G>A (p.Val3145Met)
|
rs587776476
|
|
|
NM_000059.4(BRCA2):c.9433G>T (p.Val3145Leu)
|
rs587776476
|
|
|
NM_000059.4(BRCA2):c.949A>G (p.Thr317Ala)
|
rs1555281645
|
|
|
NM_000059.4(BRCA2):c.950C>A (p.Thr317Lys)
|
|
|
|
NM_000059.4(BRCA2):c.9521A>G (p.Asn3174Ser)
|
rs1555289773
|
|
|
NM_000059.4(BRCA2):c.954A>C (p.Lys318Asn)
|
rs1593891571
|
|
|
NM_000059.4(BRCA2):c.955A>G (p.Asn319Asp)
|
rs1060502491
|
|
|
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr)
|
rs55939572
|
|
|
NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser)
|
rs55939572
|
|
|
NM_000059.4(BRCA2):c.9584C>T (p.Thr3195Ile)
|
rs431825376
|
|
|
NM_000059.4(BRCA2):c.958C>A (p.Leu320Ile)
|
|
|
|
NM_000059.4(BRCA2):c.9604C>T (p.Pro3202Ser)
|
rs1555289789
|
|
|
NM_000059.4(BRCA2):c.9606G>A (p.Pro3202=)
|
rs755890067
|
|
|
NM_000059.4(BRCA2):c.9613_9614delinsCT (p.Ala3205Leu)
|
rs276174926
|
|
|
NM_000059.4(BRCA2):c.9619A>T (p.Ile3207Phe)
|
rs1057520802
|
|
|
NM_000059.4(BRCA2):c.9620T>C (p.Ile3207Thr)
|
rs876658942
|
|
|
NM_000059.4(BRCA2):c.9632C>A (p.Thr3211Lys)
|
rs730881583
|
|
|
NM_000059.4(BRCA2):c.9649-6dup
|
rs276174929
|
|
|
NM_000059.4(BRCA2):c.9651G>A (p.Met3217Ile)
|
rs431825379
|
|
|
NM_000059.4(BRCA2):c.966A>T (p.Lys322Asn)
|
|
|
|
NM_000059.4(BRCA2):c.971G>A (p.Arg324Lys)
|
rs397507435
|
|
|
NM_000059.4(BRCA2):c.977G>A (p.Ser326Asn)
|
rs587782691
|
|
|
NM_000059.4(BRCA2):c.9785A>C (p.Gln3262Pro)
|
rs1566261012
|
|
|
NM_000059.4(BRCA2):c.978C>G (p.Ser326Arg)
|
rs28897706
|
|
|
NM_000059.4(BRCA2):c.979A>G (p.Lys327Glu)
|
rs80359242
|
|
|
NM_000059.4(BRCA2):c.980A>C (p.Lys327Thr)
|
rs1566222524
|
|
|
NM_000059.4(BRCA2):c.981G>T (p.Lys327Asn)
|
|
|
|
NM_000059.4(BRCA2):c.9843A>C (p.Pro3281=)
|
rs11571832
|
|
|
NM_000059.4(BRCA2):c.986G>C (p.Arg329Thr)
|
rs1555281666
|
|
|
NM_000059.4(BRCA2):c.992A>T (p.Lys331Ile)
|
rs80359253
|
|
|
NM_000059.4(BRCA2):c.993A>C (p.Lys331Asn)
|
rs1060502486
|
|
|
NM_000059.4(BRCA2):c.9952A>C (p.Asn3318His)
|
rs80359256
|
|
|
NM_000059.4(BRCA2):c.995T>A (p.Ile332Asn)
|
rs1555281682
|
|
|
NM_000059.4(BRCA2):c.995T>C (p.Ile332Thr)
|
|
|
|
NM_000059.4(BRCA2):c.9981A>T (p.Lys3327Asn)
|
rs587782098
|
|
|
NM_000059.4(BRCA2):c.998T>G (p.Phe333Cys)
|
rs781464949
|
|
|
NM_000059.4(BRCA2):c.9998T>C (p.Leu3333Pro)
|
rs1555290016
|
|
|
NM_000062.3(SERPING1):c.640A>T (p.Thr214Ser)
|
|
|
|
NM_000063.6(C2):c.1219+7C>T
|
rs1554282202
|
|
|
NM_000064.4(C3):c.2246-18_2246-17delinsTT
|
|
|
|
NM_000064.4(C3):c.4350+6G>C
|
rs369993135
|
|
|
NM_000069.3(CACNA1S):c.1382C>A (p.Thr461Asn)
|
rs143202536
|
|
|
NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His)
|
rs150590855
|
|
|
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu)
|
rs150590855
|
|
|
NM_000069.3(CACNA1S):c.164C>T (p.Thr55Met)
|
rs549107212
|
|
|
NM_000069.3(CACNA1S):c.1720G>A (p.Ala574Thr)
|
|
|
|
NM_000069.3(CACNA1S):c.1781G>T (p.Arg594Leu)
|
rs762032797
|
|
|
NM_000069.3(CACNA1S):c.1884C>T (p.Gly628=)
|
rs200743095
|
|
|
NM_000069.3(CACNA1S):c.1889C>T (p.Pro630Leu)
|
|
|
|
NM_000069.3(CACNA1S):c.1904T>A (p.Met635Lys)
|
rs144590408
|
|
|
NM_000069.3(CACNA1S):c.2167G>A (p.Asp723Asn)
|
|
|
|
NM_000069.3(CACNA1S):c.2270G>A (p.Arg757Gln)
|
rs868409473
|
|
|
NM_000069.3(CACNA1S):c.2647A>C (p.Met883Leu)
|
rs553593355
|
|
|
NM_000069.3(CACNA1S):c.2920G>A (p.Val974Met)
|
rs757840865
|
|
|
NM_000069.3(CACNA1S):c.3083C>T (p.Ala1028Val)
|
rs751604155
|
|
|
NM_000069.3(CACNA1S):c.3112C>T (p.Arg1038Cys)
|
|
|
|
NM_000069.3(CACNA1S):c.3256-13G>T
|
|
|
|
NM_000069.3(CACNA1S):c.3844G>T (p.Ala1282Ser)
|
rs774300377
|
|
|
NM_000069.3(CACNA1S):c.5005G>A (p.Ala1669Thr)
|
rs199989324
|
|
|
NM_000069.3(CACNA1S):c.5105G>A (p.Arg1702Gln)
|
rs201310235
|
|
|
NM_000069.3(CACNA1S):c.5105G>C (p.Arg1702Pro)
|
rs201310235
|
|
|
NM_000069.3(CACNA1S):c.5129T>C (p.Val1710Ala)
|
rs1189622818
|
|
|
NM_000069.3(CACNA1S):c.5207C>T (p.Ala1736Val)
|
|
|
|
NM_000069.3(CACNA1S):c.5299C>T (p.Pro1767Ser)
|
rs200434921
|
|
|
NM_000069.3(CACNA1S):c.5507G>A (p.Arg1836Gln)
|
rs368214163
|
|
|
NM_000069.3(CACNA1S):c.773G>T (p.Gly258Val)
|
rs35534614
|
|
|
NM_000070.3(CAPN3):c.1002C>T (p.His334=)
|
rs374833797
|
|
|
NM_000070.3(CAPN3):c.1227A>G (p.Thr409=)
|
rs111806046
|
|
|
NM_000070.3(CAPN3):c.1227A>T (p.Thr409=)
|
rs111806046
|
|
|
NM_000070.3(CAPN3):c.1251G>A (p.Thr417=)
|
rs151090625
|
|
|
NM_000070.3(CAPN3):c.1293G>A (p.Val431=)
|
rs1009544440
|
|
|
NM_000070.3(CAPN3):c.1355-6G>T
|
rs28364485
|
|
|
NM_000070.3(CAPN3):c.1395G>A (p.Leu465=)
|
rs760344791
|
|
|
NM_000070.3(CAPN3):c.1896G>A (p.Lys632=)
|
rs746786954
|
|
|
NM_000070.3(CAPN3):c.1902G>A (p.Lys634=)
|
rs2054086848
|
|
|
NM_000070.3(CAPN3):c.2088C>T (p.Ser696=)
|
rs867628179
|
|
|
NM_000070.3(CAPN3):c.2148G>A (p.Glu716=)
|
rs770894443
|
|
|
NM_000070.3(CAPN3):c.222T>G (p.Leu74=)
|
rs551850600
|
|
|
NM_000070.3(CAPN3):c.2440-8_2440-7insA
|
rs1555423427
|
|
|
NM_000070.3(CAPN3):c.468C>T (p.Ile156=)
|
rs143942248
|
|
|
NM_000070.3(CAPN3):c.618G>A (p.Glu206=)
|
rs541597520
|
|
|
NM_000070.3(CAPN3):c.632+8A>G
|
rs2053447422
|
|
|
NM_000070.3(CAPN3):c.864A>G (p.Ala288=)
|
rs1555420768
|
|
|
NM_000070.3(CAPN3):c.946-9_946-5del
|
rs758101156
|
|
|
NM_000071.3(CBS):c.1017C>T (p.Ile339=)
|
rs773933333
|
|
|
NM_000071.3(CBS):c.1071C>T (p.Ala357=)
|
rs368206976
|
|
|
NM_000071.3(CBS):c.1146-6C>T
|
rs1981696579
|
|
|
NM_000071.3(CBS):c.612G>T (p.Val204=)
|
rs539670390
|
|
|
NM_000071.3(CBS):c.667-10_667-7del
|
rs376011228
|
|
|
NM_000071.3(CBS):c.667-14C>G
|
rs1388184910
|
|
|
NM_000071.3(CBS):c.753G>T (p.Leu251=)
|
rs2146375662
|
|
|
NM_000071.3(CBS):c.825C>T (p.Cys275=)
|
rs764638041
|
|
|
NM_000071.3(CBS):c.829-8C>G
|
rs750081937
|
|
|
NM_000073.3(CD3G):c.243T>C (p.Pro81=)
|
rs200028255
|
|
|
NM_000075.4(CDK4):c.752C>G (p.Pro251Arg)
|
rs143670820
|
|
|
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[1] (p.Ala4_Pro11del)
|
rs587780668
|
|
|
NM_000077.5(CDKN2A):c.123G>A (p.Pro41=)
|
rs754366579
|
|
|
NM_000077.5(CDKN2A):c.168C>T (p.Ser56=)
|
rs771138120
|
|
|
NM_000077.5(CDKN2A):c.170C>T (p.Ala57Val)
|
rs372266620
|
|
|
NM_000077.5(CDKN2A):c.26T>A (p.Met9Lys)
|
rs145445140
|
|
|
NM_000077.5(CDKN2A):c.295C>G (p.Arg99Gly)
|
rs34886500
|
|
|
NM_000077.5(CDKN2A):c.319C>T (p.Arg107Cys)
|
rs1554654024
|
|
|
NM_000077.5(CDKN2A):c.339G>A (p.Leu113=)
|
rs575031539
|
|
|
NM_000077.5(CDKN2A):c.369T>A (p.His123Gln)
|
rs6413463
|
|
|
NM_000077.5(CDKN2A):c.370C>T (p.Arg124Cys)
|
rs34170727
|
|
|
NM_000077.5(CDKN2A):c.434T>C (p.Ile145Thr)
|
rs730881680
|
|
|
NM_000077.5(CDKN2A):c.84G>A (p.Val28=)
|
rs1461154048
|
|
|
NM_000078.3(CETP):c.1456G>A (p.Val486Met)
|
|
|
|
NM_000079.4(CHRNA1):c.1248G>A (p.Ala416=)
|
rs17838545
|
|
|
NM_000079.4(CHRNA1):c.204G>A (p.Gln68=)
|
rs886043372
|
|
|
NM_000081.4(LYST):c.10341G>A (p.Glu3447=)
|
|
|
|
NM_000081.4(LYST):c.10740G>A (p.Leu3580=)
|
|
|
|
NM_000081.4(LYST):c.11038+11T>C
|
|
|
|
NM_000081.4(LYST):c.11076C>T (p.Asn3692=)
|
|
|
|
NM_000081.4(LYST):c.11229A>G (p.Arg3743=)
|
|
|
|
NM_000081.4(LYST):c.1664A>C (p.His555Pro)
|
|
|
|
NM_000081.4(LYST):c.1722A>G (p.Leu574=)
|
|
|
|
NM_000081.4(LYST):c.1725G>A (p.Ser575=)
|
|
|
|
NM_000081.4(LYST):c.244C>T (p.Leu82=)
|
|
|
|
NM_000081.4(LYST):c.285T>C (p.Asp95=)
|
|
|
|
NM_000081.4(LYST):c.345A>G (p.Gln115=)
|
|
|
|
NM_000081.4(LYST):c.3712+12T>C
|
|
|
|
NM_000081.4(LYST):c.372A>G (p.Leu124=)
|
|
|
|
NM_000081.4(LYST):c.4053A>G (p.Ser1351=)
|
|
|
|
NM_000081.4(LYST):c.5461-14A>T
|
|
|
|
NM_000081.4(LYST):c.5461-3dup
|
rs557545474
|
|
|
NM_000081.4(LYST):c.5583T>C (p.Ile1861=)
|
|
|
|
NM_000081.4(LYST):c.5634+11A>G
|
|
|
|
NM_000081.4(LYST):c.5674A>G (p.Met1892Val)
|
|
|
|
NM_000081.4(LYST):c.6673C>T (p.Arg2225Cys)
|
|
|
|
NM_000081.4(LYST):c.6744A>G (p.Leu2248=)
|
|
|
|
NM_000081.4(LYST):c.8152-8G>A
|
|
|
|
NM_000081.4(LYST):c.8742A>G (p.Lys2914=)
|
|
|
|
NM_000081.4(LYST):c.9162+15A>G
|
|
|
|
NM_000081.4(LYST):c.9244T>C (p.Leu3082=)
|
|
|
|
NM_000081.4(LYST):c.9969C>T (p.His3323=)
|
|
|
|
NM_000081.4(LYST):c.9990G>A (p.Ala3330=)
|
|
|
|
NM_000082.4(ERCC8):c.550+15T>C
|
rs1748965740
|
|
|
NM_000083.3(CLCN1):c.799C>T (p.Leu267=)
|
rs1563075864
|
|
|
NM_000085.5(CLCNKB):c.1631_1632delinsAT (p.Arg544His)
|
rs1553128179
|
|
|
NM_000085.5(CLCNKB):c.656-9C>T
|
|
|
|
NM_000088.4(COL1A1):c.*1026_*1028del
|
rs751268781
|
|
|
NM_000088.4(COL1A1):c.*242_*244dup
|
rs56302025
|
|
|
NM_000088.4(COL1A1):c.*243_*244dup
|
rs56302025
|
|
|
NM_000088.4(COL1A1):c.2283C>T (p.Gly761=)
|
rs759665341
|
|
|
NM_000088.4(COL1A1):c.2838T>G (p.Pro946=)
|
rs1555572418
|
|
|
NM_000088.4(COL1A1):c.429CCCCGGACC[1] (p.143PPG[3])
|
rs769867566
|
|
|
NM_000088.4(COL1A1):c.516C>T (p.Thr172=)
|
rs377195143
|
|
|
NM_000088.4(COL1A1):c.6C>T (p.Phe2=)
|
|
|
|
NM_000089.4(COL1A2):c.880G>T (p.Val294Phe)
|
rs145693444
|
|
|
NM_000090.4(COL3A1):c.119C>T (p.Ala40Val)
|
rs201380807
|
|
|
NM_000090.4(COL3A1):c.1461C>T (p.Ala487=)
|
rs747522483
|
|
|
NM_000090.4(COL3A1):c.2364A>G (p.Pro788=)
|
rs886055332
|
|
|
NM_000090.4(COL3A1):c.2445+19A>G
|
rs776819930
|
|
|
NM_000090.4(COL3A1):c.2490G>A (p.Pro830=)
|
rs777361888
|
|
|
NM_000090.4(COL3A1):c.2975G>A (p.Arg992His)
|
rs374527092
|
|
|
NM_000090.4(COL3A1):c.3093+5A>G
|
rs1688583785
|
|
|
NM_000090.4(COL3A1):c.3117T>C (p.Ser1039=)
|
rs1559061716
|
|
|
NM_000090.4(COL3A1):c.3165C>T (p.Val1055=)
|
rs1576471851
|
|
|
NM_000090.4(COL3A1):c.3201+10C>G
|
rs372405344
|
|
|
NM_000090.4(COL3A1):c.3937A>G (p.Lys1313Glu)
|
rs886038983
|
|
|
NM_000090.4(COL3A1):c.583-7T>C
|
rs886055330
|
|
|
NM_000091.5(COL4A3):c.1311G>T (p.Pro437=)
|
rs369557944
|
|
|
NM_000091.5(COL4A3):c.2657-6C>T
|
|
|
|
NM_000091.5(COL4A3):c.2794G>T (p.Ala932Ser)
|
|
|
|
NM_000091.5(COL4A3):c.3200C>G (p.Pro1067Arg)
|
rs55849096
|
|
|
NM_000091.5(COL4A3):c.3825C>T (p.His1275=)
|
rs143380907
|
|
|
NM_000091.5(COL4A3):c.4028-15T>C
|
rs764478470
|
|
|
NM_000091.5(COL4A3):c.4669G>C (p.Ala1557Pro)
|
|
|
|
NM_000091.5(COL4A3):c.4825C>A (p.Arg1609=)
|
rs756231749
|
|
|
NM_000091.5(COL4A3):c.4882T>G (p.Ser1628Ala)
|
rs773905198
|
|
|
NM_000091.5(COL4A3):c.766-5G>A
|
rs751236477
|
|
|
NM_000091.5(COL4A3):c.87+8G>C
|
|
|
|
NM_000092.5(COL4A4):c.1404A>G (p.Gln468=)
|
rs774673142
|
|
|
NM_000092.5(COL4A4):c.1757A>G (p.His586Arg)
|
|
|
|
NM_000092.5(COL4A4):c.2023A>G (p.Arg675Gly)
|
|
|
|
NM_000092.5(COL4A4):c.2060C>T (p.Pro687Leu)
|
|
|
|
NM_000092.5(COL4A4):c.2647C>A (p.Pro883Thr)
|
rs200761108
|
|
|
NM_000092.5(COL4A4):c.2647C>T (p.Pro883Ser)
|
|
|
|
NM_000092.5(COL4A4):c.2722C>T (p.Arg908Trp)
|
|
|
|
NM_000092.5(COL4A4):c.273A>G (p.Lys91=)
|
|
|
|
NM_000092.5(COL4A4):c.289C>T (p.Arg97Cys)
|
|
|
|
NM_000092.5(COL4A4):c.3309A>C (p.Gly1103=)
|
|
|
|
NM_000092.5(COL4A4):c.3676C>T (p.Arg1226Cys)
|
|
|
|
NM_000092.5(COL4A4):c.3973+17G>A
|
|
|
|
NM_000092.5(COL4A4):c.4091-12T>C
|
|
|
|
NM_000092.5(COL4A4):c.4349T>A (p.Ile1450Asn)
|
rs72969704
|
|
|
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg)
|
rs190148408
|
|
|
NM_000092.5(COL4A4):c.4760C>T (p.Pro1587Leu)
|
rs190148408
|
|
|
NM_000092.5(COL4A4):c.680G>A (p.Arg227His)
|
rs368248078
|
|
|
NM_000092.5(COL4A4):c.866G>A (p.Arg289His)
|
|
|
|
NM_000092.5(COL4A4):c.879T>A (p.Ser293=)
|
rs2150788345
|
|
|
NM_000093.5(COL5A1):c.1043C>T (p.Thr348Met)
|
rs1339426358
|
|
|
NM_000093.5(COL5A1):c.175A>G (p.Thr59Ala)
|
rs751649145
|
|
|
NM_000093.5(COL5A1):c.2433T>C (p.Gly811=)
|
rs1554798918
|
|
|
NM_000093.5(COL5A1):c.2555A>G (p.Asn852Ser)
|
rs148146480
|
|
|
NM_000093.5(COL5A1):c.3260G>C (p.Gly1087Ala)
|
rs559882772
|
|
|
NM_000093.5(COL5A1):c.4020A>G (p.Pro1340=)
|
rs776564144
|
|
|
NM_000093.5(COL5A1):c.514G>T (p.Val172Phe)
|
rs150147262
|
|
|
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr)
|
rs143859495
|
|
|
NM_000093.5(COL5A1):c.67CTG[7] (p.Leu28dup)
|
rs773994971
|
|
|
NM_000093.5(COL5A1):c.766G>A (p.Asp256Asn)
|
rs886038237
|
|
|
NM_000094.4(COL7A1):c.1215C>T (p.Pro405=)
|
rs200882719
|
|
|
NM_000094.4(COL7A1):c.1334G>A (p.Arg445Gln)
|
|
|
|
NM_000094.4(COL7A1):c.1612C>T (p.Arg538Cys)
|
|
|
|
NM_000094.4(COL7A1):c.2333G>C (p.Arg778Pro)
|
|
|
|
NM_000094.4(COL7A1):c.2382C>T (p.Ile794=)
|
rs1388911281
|
|
|
NM_000094.4(COL7A1):c.2543T>G (p.Val848Gly)
|
|
|
|
NM_000094.4(COL7A1):c.2548G>A (p.Asp850Asn)
|
rs538387822
|
|
|
NM_000094.4(COL7A1):c.2769G>A (p.Gly923=)
|
rs748086542
|
|
|
NM_000094.4(COL7A1):c.2791C>T (p.Arg931Cys)
|
rs143979792
|
|
|
NM_000094.4(COL7A1):c.2793C>T (p.Arg931=)
|
rs142681592
|
|
|
NM_000094.4(COL7A1):c.279C>T (p.Gly93=)
|
rs745864625
|
|
|
NM_000094.4(COL7A1):c.2903C>T (p.Ser968Leu)
|
|
|
|
NM_000094.4(COL7A1):c.3039G>T (p.Gln1013His)
|
rs570498790
|
|
|
NM_000094.4(COL7A1):c.317C>T (p.Ala106Val)
|
rs767643638
|
|
|
NM_000094.4(COL7A1):c.3211G>A (p.Ala1071Thr)
|
rs143245957
|
|
|
NM_000094.4(COL7A1):c.3364C>T (p.Arg1122Cys)
|
|
|
|
NM_000094.4(COL7A1):c.3785T>C (p.Met1262Thr)
|
|
|
|
NM_000094.4(COL7A1):c.3939C>T (p.Ala1313=)
|
rs141825319
|
|
|
NM_000094.4(COL7A1):c.4408C>T (p.Arg1470Trp)
|
rs769297158
|
|
|
NM_000094.4(COL7A1):c.5403A>G (p.Lys1801=)
|
rs1575449774
|
|
|
NM_000094.4(COL7A1):c.5425-6_5425-5del
|
rs762085901
|
|
|
NM_000094.4(COL7A1):c.5609G>A (p.Arg1870His)
|
|
|
|
NM_000094.4(COL7A1):c.6270T>G (p.Pro2090=)
|
rs2044195363
|
|
|
NM_000094.4(COL7A1):c.6457-13C>T
|
|
|
|
NM_000094.4(COL7A1):c.6832-3T>C
|
rs1553853065
|
|
|
NM_000094.4(COL7A1):c.7215C>T (p.Phe2405=)
|
rs779587550
|
|
|
NM_000094.4(COL7A1):c.724G>A (p.Glu242Lys)
|
rs549872555
|
|
|
NM_000094.4(COL7A1):c.8094C>A (p.Gly2698=)
|
rs199936185
|
|
|
NM_000094.4(COL7A1):c.809C>T (p.Thr270Met)
|
|
|
|
NM_000094.4(COL7A1):c.831G>A (p.Pro277=)
|
rs749004650
|
|
|
NM_000094.4(COL7A1):c.8539C>G (p.Pro2847Ala)
|
rs140041143
|
|
|
NM_000094.4(COL7A1):c.8539C>T (p.Pro2847Ser)
|
rs140041143
|
|
|
NM_000094.4(COL7A1):c.8569G>A (p.Glu2857Lys)
|
rs372166543
|
|
|
NM_000094.4(COL7A1):c.8818+4T>G
|
|
|
|
NM_000096.4(CP):c.1036+15C>T
|
|
|
|
NM_000098.3(CPT2):c.1041C>T (p.Gly347=)
|
rs985374504
|
|
|
NM_000098.3(CPT2):c.448A>G (p.Thr150Ala)
|
rs141505320
|
|
|
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys)
|
rs375968699
|
|
|
NM_000101.4(CYBA):c.204-4C>A
|
rs377055239
|
|
|
NM_000101.4(CYBA):c.384C>T (p.Gly128=)
|
rs72547285
|
|
|
NM_000101.4(CYBA):c.524CGG[3] (p.Ala176dup)
|
rs760275837
|
|
|
NM_000102.4(CYP17A1):c.186C>T (p.Pro62=)
|
rs1844174531
|
|
|
NM_000104.4(CYP1B1):c.1590T>C (p.Asp530=)
|
rs146770394
|
|
|
NM_000108.5(DLD):c.1465-7C>G
|
rs886061908
|
|
|
NM_000108.5(DLD):c.30C>A (p.Ser10=)
|
rs779166996
|
|
|
NM_000108.5(DLD):c.439-6G>C
|
rs369208046
|
|
|
NM_000108.5(DLD):c.597A>G (p.Thr199=)
|
rs768248572
|
|
|
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=)
|
rs1057515818
|
|
|
NM_000117.3(EMD):c.144C>G (p.Leu48=)
|
rs200537612
|
|
|
NM_000117.3(EMD):c.285T>C (p.Tyr95=)
|
rs2148128483
|
|
|
NM_000117.3(EMD):c.396C>A (p.His132Gln)
|
rs145985318
|
|
|
NM_000117.3(EMD):c.460A>G (p.Met154Val)
|
rs782806462
|
|
|
NM_000117.3(EMD):c.466G>C (p.Gly156Arg)
|
rs144594695
|
|
|
NM_000123.4(ERCC5):c.788G>A (p.Arg263Gln)
|
rs61749896
|
|
|
NM_000124.4(ERCC6):c.2287-4G>A
|
rs375617750
|
|
|
NM_000124.4(ERCC6):c.3004T>A (p.Tyr1002Asn)
|
|
|
|
NM_000124.4(ERCC6):c.3095C>G (p.Pro1032Arg)
|
|
|
|
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg)
|
rs4253208
|
|
|
NM_000124.4(ERCC6):c.3628A>G (p.Lys1210Glu)
|
|
|
|
NM_000124.4(ERCC6):c.4039A>G (p.Thr1347Ala)
|
|
|
|
NM_000124.4(ERCC6):c.4066G>A (p.Gly1356Ser)
|
rs574272317
|
|
|
NM_000124.4(ERCC6):c.803C>T (p.Ala268Val)
|
|
|
|
NM_000124.4(ERCC6):c.901C>T (p.Pro301Ser)
|
rs766256094
|
|
|
NM_000126.4(ETFA):c.351+12G>A
|
rs2039773989
|
|
|
NM_000126.4(ETFA):c.351+9G>A
|
rs2039774067
|
|
|
NM_000126.4(ETFA):c.366A>G (p.Arg122=)
|
rs2039718120
|
|
|
NM_000126.4(ETFA):c.36G>A (p.Arg12=)
|
rs1299355915
|
|
|
NM_000126.4(ETFA):c.66C>T (p.Thr22=)
|
rs370375322
|
|
|
NM_000126.4(ETFA):c.882+10C>T
|
rs2039064081
|
|
|
NM_000128.4(F11):c.1028+9T>G
|
rs376630194
|
|
|
NM_000128.4(F11):c.1560G>T (p.Gly520=)
|
rs794727084
|
|
|
NM_000128.4(F11):c.595+11A>G
|
|
|
|
NM_000130.5(F5):c.111T>A (p.Ala37=)
|
rs537081933
|
|
|
NM_000135.4(FANCA):c.1143G>A (p.Thr381=)
|
rs1800331
|
|
|
NM_000135.4(FANCA):c.1471-10C>G
|
rs368356709
|
|
|
NM_000135.4(FANCA):c.1518C>T (p.Leu506=)
|
rs781524409
|
|
|
NM_000135.4(FANCA):c.1796C>T (p.Ser599Phe)
|
rs562319781
|
|
|
NM_000135.4(FANCA):c.1901-3C>A
|
rs17226526
|
|
|
NM_000135.4(FANCA):c.1901-9T>G
|
rs886052486
|
|
|
NM_000135.4(FANCA):c.1999C>G (p.Pro667Ala)
|
rs147300317
|
|
|
NM_000135.4(FANCA):c.19C>T (p.Pro7Ser)
|
rs780667753
|
|
|
NM_000135.4(FANCA):c.2014+10G>T
|
rs1567620967
|
|
|
NM_000135.4(FANCA):c.2015-4G>T
|
rs373954227
|
|
|
NM_000135.4(FANCA):c.2223-8C>G
|
rs1598110961
|
|
|
NM_000135.4(FANCA):c.2248G>A (p.Val750Met)
|
rs747723074
|
|
|
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro)
|
rs137913973
|
|
|
NM_000135.4(FANCA):c.2316+9C>T
|
rs776301232
|
|
|
NM_000135.4(FANCA):c.284-9G>C
|
rs367672895
|
|
|
NM_000135.4(FANCA):c.2859C>A (p.Asp953Glu)
|
rs149112292
|
|
|
NM_000135.4(FANCA):c.2904G>A (p.Ser968=)
|
rs568354015
|
|
|
NM_000135.4(FANCA):c.3267C>T (p.Val1089=)
|
rs994416299
|
|
|
NM_000135.4(FANCA):c.3531G>A (p.Leu1177=)
|
rs886052482
|
|
|
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys)
|
rs751309143
|
|
|
NM_000135.4(FANCA):c.3639T>C (p.Pro1213=)
|
rs1567598479
|
|
|
NM_000135.4(FANCA):c.3698C>T (p.Ala1233Val)
|
rs545742908
|
|
|
NM_000135.4(FANCA):c.375C>T (p.Cys125=)
|
rs199793463
|
|
|
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg)
|
rs139160837
|
|
|
NM_000135.4(FANCA):c.377C>T (p.Thr126Met)
|
rs139160837
|
|
|
NM_000135.4(FANCA):c.3825A>G (p.Ser1275=)
|
rs886052480
|
|
|
NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr)
|
rs142919010
|
|
|
NM_000135.4(FANCA):c.3850G>C (p.Ala1284Pro)
|
rs142919010
|
|
|
NM_000135.4(FANCA):c.3961C>T (p.Arg1321Cys)
|
rs755375493
|
|
|
NM_000135.4(FANCA):c.402T>C (p.Pro134=)
|
rs745666586
|
|
|
NM_000135.4(FANCA):c.4056C>T (p.Ala1352=)
|
rs2062057880
|
|
|
NM_000135.4(FANCA):c.4128T>C (p.Val1376=)
|
rs1209384219
|
|
|
NM_000135.4(FANCA):c.68C>T (p.Ala23Val)
|
rs776297241
|
|
|
NM_000135.4(FANCA):c.754_755delinsAG (p.Asp252Ser)
|
rs587778324
|
|
|
NM_000135.4(FANCA):c.80-8C>G
|
rs749080227
|
|
|
NM_000135.4(FANCA):c.851G>C (p.Gly284Ala)
|
rs762079136
|
|
|
NM_000135.4(FANCA):c.93G>C (p.Lys31Asn)
|
rs759630319
|
|
|
NM_000135.4(FANCA):c.964C>T (p.His322Tyr)
|
rs772768595
|
|
|
NM_000136.3(FANCC):c.1014G>A (p.Lys338=)
|
rs780776360
|
|
|
NM_000136.3(FANCC):c.1170C>G (p.Pro390=)
|
rs878853668
|
|
|
NM_000136.3(FANCC):c.1534-5del
|
rs748342368
|
|
|
NM_000136.3(FANCC):c.345+4AG[2]
|
rs755657969
|
|
|
NM_000137.4(FAH):c.1152G>T (p.Leu384=)
|
rs886051497
|
|
|
NM_000137.4(FAH):c.147C>G (p.Leu49=)
|
rs886051496
|
|
|
NM_000137.4(FAH):c.192+9T>C
|
rs1386784352
|
|
|
NM_000137.4(FAH):c.249G>A (p.Val83=)
|
rs370095143
|
|
|
NM_000137.4(FAH):c.455+9T>C
|
rs531129429
|
|
|
NM_000137.4(FAH):c.645G>T (p.Pro215=)
|
rs151221329
|
|
|
NM_000137.4(FAH):c.707-7_707-5del
|
rs779284513
|
|
|
NM_000137.4(FAH):c.90G>C (p.Pro30=)
|
rs202195651
|
|
|
NM_000138.5(FBN1):c.1158C>G (p.Asn386Lys)
|
rs368737502
|
|
|
NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln)
|
rs368089138
|
|
|
NM_000138.5(FBN1):c.1940T>C (p.Leu647Pro)
|
rs1566913983
|
|
|
NM_000138.5(FBN1):c.2031T>A (p.Ala677=)
|
rs762312642
|
|
|
NM_000138.5(FBN1):c.2539+10T>A
|
rs878853679
|
|
|
NM_000138.5(FBN1):c.3464-16_3464-14del
|
rs775944757
|
|
|
NM_000138.5(FBN1):c.4152G>A (p.Met1384Ile)
|
rs1488326228
|
|
|
NM_000138.5(FBN1):c.4190G>T (p.Gly1397Val)
|
rs747867726
|
|
|
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=)
|
rs141925790
|
|
|
NM_000138.5(FBN1):c.5358T>C (p.Val1786=)
|
rs1057521207
|
|
|
NM_000138.5(FBN1):c.538+12del
|
rs755209856
|
|
|
NM_000138.5(FBN1):c.5788+4C>A
|
rs577301285
|
|
|
NM_000138.5(FBN1):c.6164-5T>C
|
rs2043085940
|
|
|
NM_000138.5(FBN1):c.6478G>A (p.Ala2160Thr)
|
rs2043077484
|
|
|
NM_000138.5(FBN1):c.6801C>T (p.Asn2267=)
|
rs886051245
|
|
|
NM_000138.5(FBN1):c.6888G>T (p.Gln2296His)
|
rs363830
|
|
|
NM_000138.5(FBN1):c.69T>C (p.His23=)
|
rs2140787712
|
|
|
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys)
|
rs376372763
|
|
|
NM_000138.5(FBN1):c.723G>A (p.Thr241=)
|
rs757264206
|
|
|
NM_000138.5(FBN1):c.7840G>A (p.Ala2614Thr)
|
rs1280320763
|
|
|
NM_000138.5(FBN1):c.7840G>C (p.Ala2614Pro)
|
rs1280320763
|
|
|
NM_000138.5(FBN1):c.8011C>T (p.Leu2671=)
|
rs886051244
|
|
|
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln)
|
rs370096856
|
|
|
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His)
|
rs376119827
|
|
|
NM_000140.5(FECH):c.163G>T (p.Gly55Cys)
|
rs3848519
|
|
|
NM_000141.5(FGFR2):c.*197del
|
rs748777325
|
|
|
NM_000141.5(FGFR2):c.1086G>C (p.Ala362=)
|
rs151250769
|
|
|
NM_000141.5(FGFR2):c.110-22TC[3]
|
rs773932794
|
|
|
NM_000141.5(FGFR2):c.714G>A (p.Gly238=)
|
rs1276387170
|
|
|
NM_000142.5(FGFR3):c.1646-11C>A
|
rs763302590
|
|
|
NM_000142.5(FGFR3):c.1657G>A (p.Val553Met)
|
rs199544087
|
|
|
NM_000142.5(FGFR3):c.188C>G (p.Pro63Arg)
|
rs371729802
|
|
|
NM_000142.5(FGFR3):c.188C>T (p.Pro63Leu)
|
rs371729802
|
|
|
NM_000142.5(FGFR3):c.2362G>A (p.Val788Met)
|
|
|
|
NM_000143.4(FH):c.1119C>T (p.Asn373=)
|
rs542014575
|
|
|
NM_000143.4(FH):c.1237-50TC[15]
|
rs144131869
|
|
|
NM_000143.4(FH):c.1237-50TC[21]
|
rs144131869
|
|
|
NM_000143.4(FH):c.1237-50TC[22]
|
rs144131869
|
|
|
NM_000143.4(FH):c.1390+5G>A
|
rs1352808353
|
|
|
NM_000143.4(FH):c.186G>A (p.Val62=)
|
|
|
|
NM_000143.4(FH):c.240G>A (p.Lys80=)
|
rs1573888362
|
|
|
NM_000143.4(FH):c.267A>C (p.Pro89=)
|
rs1060500897
|
|
|
NM_000143.4(FH):c.576C>G (p.Pro192=)
|
rs1413797947
|
|
|
NM_000143.4(FH):c.739-17TTTTC[2]
|
rs745617145
|
|
|
NM_000147.5(FUCA1):c.389+15G>C
|
rs1395597191
|
|
|
NM_000147.5(FUCA1):c.489T>C (p.Asp163=)
|
rs1639604269
|
|
|
NM_000147.5(FUCA1):c.4C>A (p.Arg2=)
|
rs2070955
|
|
|
NM_000151.4(G6PC1):c.230+11T>C
|
rs756151664
|
|
|
NM_000151.4(G6PC1):c.646C>T (p.Leu216=)
|
rs749665480
|
|
|
NM_000151.4(G6PC1):c.993G>C (p.Ala331=)
|
rs369238258
|
|
|
NM_000152.5(GAA):c.1076-15G>C
|
rs370414054
|
|
|
NM_000152.5(GAA):c.1416C>G (p.Thr472=)
|
rs368492669
|
|
|
NM_000152.5(GAA):c.1434G>A (p.Gly478=)
|
rs886043285
|
|
|
NM_000152.5(GAA):c.1438-7_1438-5del
|
rs764583466
|
|
|
NM_000152.5(GAA):c.1536C>T (p.Phe512=)
|
rs143491365
|
|
|
NM_000152.5(GAA):c.1636+9G>T
|
rs200302174
|
|
|
NM_000152.5(GAA):c.1638G>A (p.Gly546=)
|
rs1260256483
|
|
|
NM_000152.5(GAA):c.1722C>T (p.Leu574=)
|
rs561357893
|
|
|
NM_000152.5(GAA):c.1734C>T (p.Thr578=)
|
rs149384771
|
|
|
NM_000152.5(GAA):c.1743C>T (p.Ile581=)
|
rs527970795
|
|
|
NM_000152.5(GAA):c.1851G>A (p.Val617=)
|
rs886042906
|
|
|
NM_000152.5(GAA):c.1889-5C>T
|
rs794727115
|
|
|
NM_000152.5(GAA):c.1941C>T (p.Cys647=)
|
rs776948121
|
|
|
NM_000152.5(GAA):c.2064C>T (p.Ser688=)
|
rs140996643
|
|
|
NM_000152.5(GAA):c.2112A>C (p.Ala704=)
|
rs1449566083
|
|
|
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser)
|
rs143324027
|
|
|
NM_000152.5(GAA):c.2207G>A (p.Ser736Asn)
|
rs553430197
|
|
|
NM_000152.5(GAA):c.2307G>A (p.Leu769=)
|
rs372800172
|
|
|
NM_000152.5(GAA):c.2332-16C>T
|
rs2039383167
|
|
|
NM_000152.5(GAA):c.2391C>T (p.Ala797=)
|
rs767494597
|
|
|
NM_000152.5(GAA):c.2482-5T>C
|
rs1290870969
|
|
|
NM_000152.5(GAA):c.2647-23del
|
rs749000061
|
|
|
NM_000152.5(GAA):c.2647-6G>A
|
rs201525743
|
|
|
NM_000152.5(GAA):c.2790C>T (p.Pro930=)
|
rs2039418269
|
|
|
NM_000152.5(GAA):c.2800-15CT[3]
|
rs770227589
|
|
|
NM_000152.5(GAA):c.2800-9C>G
|
rs886053547
|
|
|
NM_000152.5(GAA):c.531C>T (p.Asn177=)
|
rs886053544
|
|
|
NM_000152.5(GAA):c.688G>A (p.Val230Met)
|
rs145866792
|
|
|
NM_000152.5(GAA):c.750C>T (p.Thr250=)
|
rs2143846283
|
|
|
NM_000152.5(GAA):c.858+10C>T
|
rs758283022
|
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGC
|
rs3071247
|
|
|
NM_000153.4(GALC):c.-80_-75delATCAGC
|
rs564526560
|
|
|
NM_000153.4(GALC):c.1110C>T (p.Tyr370=)
|
rs372793797
|
|
|
NM_000153.4(GALC):c.1758T>C (p.Gly586=)
|
rs746189262
|
|
|
NM_000153.4(GALC):c.196-4_196-3del
|
rs561184126
|
|
|
NM_000153.4(GALC):c.329-10_329-8del
|
rs770389075
|
|
|
NM_000153.4(GALC):c.41C>G (p.Ala14Gly)
|
rs373587692
|
|
|
NM_000153.4(GALC):c.516C>T (p.Ala172=)
|
rs1248283732
|
|
|
NM_000153.4(GALC):c.65G>A (p.Gly22Asp)
|
rs372285275
|
|
|
NM_000153.4(GALC):c.678T>C (p.Ser226=)
|
rs1595226323
|
|
|
NM_000154.2(GALK1):c.117C>T (p.Asn39=)
|
rs1599336904
|
|
|
NM_000154.2(GALK1):c.396A>G (p.Ser132=)
|
rs766401384
|
|
|
NM_000154.2(GALK1):c.787C>T (p.Leu263=)
|
rs886053420
|
|
|
NM_000154.2(GALK1):c.864G>A (p.Thr288=)
|
rs201247556
|
|
|
NM_000155.4(GALT):c.450T>A (p.Val150=)
|
rs886063884
|
|
|
NM_000155.4(GALT):c.630G>A (p.Lys210=)
|
rs367543260
|
|
|
NM_000157.4(GBA1):c.1495G>C (p.Val499Leu)
|
rs369068553
|
|
|
NM_000158.4(GBE1):c.1656A>C (p.Pro552=)
|
rs1340229013
|
|
|
NM_000158.4(GBE1):c.1842T>A (p.Ile614=)
|
rs774354874
|
|
|
NM_000158.4(GBE1):c.333G>A (p.Ser111=)
|
rs374518318
|
|
|
NM_000158.4(GBE1):c.969T>C (p.Asp323=)
|
rs555689284
|
|
|
NM_000159.4(GCDH):c.1167G>A (p.Leu389=)
|
rs398123191
|
|
|
NM_000159.4(GCDH):c.1287G>A (p.Thr429=)
|
rs141819282
|
|
|
NM_000159.4(GCDH):c.957-6A>C
|
rs748270195
|
|
|
NM_000161.3(GCH1):c.507G>C (p.Ala169=)
|
rs150158277
|
|
|
NM_000162.5(GCK):c.680-14G>C
|
rs577968084
|
|
|
NM_000162.5(GCK):c.680-19C>T
|
|
|
|
NM_000162.5(GCK):c.835G>C (p.Glu279Gln)
|
rs104894005
|
|
|
NM_000162.5(GCK):c.852C>G (p.Pro284=)
|
|
|
|
NM_000166.6(GJB1):c.147T>C (p.Ser49=)
|
rs2092542885
|
|
|
NM_000166.6(GJB1):c.659G>A (p.Arg220Gln)
|
rs1057524799
|
|
|
NM_000168.6(GLI3):c.2826G>T (p.Pro942=)
|
rs34245321
|
|
|
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr)
|
rs144994244
|
|
|
NM_000169.3(GLA):c.1102G>C (p.Ala368Pro)
|
rs144994244
|
|
|
NM_000169.3(GLA):c.525C>G (p.Asp175Glu)
|
rs782722844
|
|
|
NM_000169.3(GLA):c.585C>T (p.Gly195=)
|
rs1928285510
|
|
|
NM_000169.3(GLA):c.70T>A (p.Trp24Arg)
|
rs397515871
|
|
|
NM_000169.3(GLA):c.802-10T>G
|
rs1928176118
|
|
|
NM_000170.3(GLDC):c.1545G>A (p.Arg515=)
|
rs121964976
|
|
|
NM_000170.3(GLDC):c.1553C>G (p.Pro518Arg)
|
rs761064507
|
|
|
NM_000170.3(GLDC):c.1554G>C (p.Pro518=)
|
rs377219563
|
|
|
NM_000170.3(GLDC):c.190G>T (p.Ala64Ser)
|
rs141601131
|
|
|
NM_000170.3(GLDC):c.1927-4G>A
|
rs576723612
|
|
|
NM_000170.3(GLDC):c.2148C>T (p.Leu716=)
|
rs367750112
|
|
|
NM_000170.3(GLDC):c.2310C>T (p.Ile770=)
|
rs765661419
|
|
|
NM_000170.3(GLDC):c.2383T>A (p.Cys795Ser)
|
rs567167527
|
|
|
NM_000170.3(GLDC):c.2569+8T>G
|
rs894742250
|
|
|
NM_000170.3(GLDC):c.2859C>G (p.Thr953=)
|
rs1817083513
|
|
|
NM_000170.3(GLDC):c.609C>T (p.Ala203=)
|
rs201699152
|
|
|
NM_000170.3(GLDC):c.861+11C>G
|
rs757254927
|
|
|
NM_000178.4(GSS):c.1260C>G (p.Val420=)
|
rs369657861
|
|
|
NM_000179.3(MSH6):c.*24_*28del
|
rs587779200
|
|
|
NM_000179.3(MSH6):c.-17C>G
|
rs370816858
|
|
|
NM_000179.3(MSH6):c.-4C>T
|
rs1114167784
|
|
|
NM_000179.3(MSH6):c.1069G>A (p.Asp357Asn)
|
rs771529531
|
|
|
NM_000179.3(MSH6):c.117G>A (p.Gly39=)
|
rs756673077
|
|
|
NM_000179.3(MSH6):c.1281C>T (p.Tyr427=)
|
rs1553412720
|
|
|
NM_000179.3(MSH6):c.135C>T (p.Gly45=)
|
rs876659020
|
|
|
NM_000179.3(MSH6):c.1513T>C (p.Tyr505His)
|
rs1558661932
|
|
|
NM_000179.3(MSH6):c.1786T>A (p.Phe596Ile)
|
rs587779918
|
|
|
NM_000179.3(MSH6):c.178T>G (p.Leu60Val)
|
rs35819209
|
|
|
NM_000179.3(MSH6):c.1844G>T (p.Cys615Phe)
|
rs730881793
|
|
|
NM_000179.3(MSH6):c.1847C>G (p.Ser616Cys)
|
rs772363120
|
|
|
NM_000179.3(MSH6):c.184C>A (p.Arg62Ser)
|
rs876659508
|
|
|
NM_000179.3(MSH6):c.1902G>A (p.Leu634=)
|
rs1572724876
|
|
|
NM_000179.3(MSH6):c.2075A>G (p.Lys692Arg)
|
rs975991506
|
|
|
NM_000179.3(MSH6):c.2155A>G (p.Thr719Ala)
|
|
|
|
NM_000179.3(MSH6):c.216C>G (p.Leu72=)
|
rs963404377
|
|
|
NM_000179.3(MSH6):c.2171C>G (p.Ala724Gly)
|
rs587779922
|
|
|
NM_000179.3(MSH6):c.2179A>G (p.Thr727Ala)
|
rs761930694
|
|
|
NM_000179.3(MSH6):c.2183A>C (p.Lys728Thr)
|
rs35552856
|
|
|
NM_000179.3(MSH6):c.2183A>G (p.Lys728Arg)
|
rs35552856
|
|
|
NM_000179.3(MSH6):c.2203C>A (p.Leu735Ile)
|
rs786204071
|
|
|
NM_000179.3(MSH6):c.2282G>A (p.Arg761Lys)
|
rs587779233
|
|
|
NM_000179.3(MSH6):c.2413A>G (p.Ile805Val)
|
rs928923556
|
|
|
NM_000179.3(MSH6):c.2479A>G (p.Asn827Asp)
|
rs878853716
|
|
|
NM_000179.3(MSH6):c.249T>G (p.Ala83=)
|
rs876658308
|
|
|
NM_000179.3(MSH6):c.251C>T (p.Ala84Val)
|
rs878853717
|
|
|
NM_000179.3(MSH6):c.255C>G (p.Pro85=)
|
rs587779242
|
|
|
NM_000179.3(MSH6):c.2561_2562delinsTT (p.Lys854Ile)
|
rs587780673
|
|
|
NM_000179.3(MSH6):c.2584C>T (p.Leu862=)
|
rs1187393388
|
|
|
NM_000179.3(MSH6):c.2622C>T (p.Ile874=)
|
rs1200093419
|
|
|
NM_000179.3(MSH6):c.2668G>A (p.Val890Ile)
|
rs786202628
|
|
|
NM_000179.3(MSH6):c.2688A>G (p.Lys896=)
|
rs876659173
|
|
|
NM_000179.3(MSH6):c.2879A>G (p.Asn960Ser)
|
rs746341645
|
|
|
NM_000179.3(MSH6):c.2919T>C (p.Gly973=)
|
rs1057522150
|
|
|
NM_000179.3(MSH6):c.2986T>C (p.Leu996=)
|
rs876658605
|
|
|
NM_000179.3(MSH6):c.3029C>G (p.Thr1010Ser)
|
rs768925694
|
|
|
NM_000179.3(MSH6):c.3079G>C (p.Val1027Leu)
|
rs876658397
|
|
|
NM_000179.3(MSH6):c.3104G>A (p.Arg1035Gln)
|
rs730881801
|
|
|
NM_000179.3(MSH6):c.3111C>A (p.Phe1037Leu)
|
rs587781673
|
|
|
NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile)
|
rs576269342
|
|
|
NM_000179.3(MSH6):c.3173-10_3173-6del
|
rs781520783
|
|
|
NM_000179.3(MSH6):c.3173-12C>T
|
rs1057517629
|
|
|
NM_000179.3(MSH6):c.3173-4A>C
|
rs1437555847
|
|
|
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=)
|
rs3136351
|
|
|
NM_000179.3(MSH6):c.3259C>A (p.Pro1087Thr)
|
rs63750998
|
|
|
NM_000179.3(MSH6):c.3259C>G (p.Pro1087Ala)
|
rs63750998
|
|
|
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser)
|
rs63750998
|
|
|
NM_000179.3(MSH6):c.3260C>A (p.Pro1087His)
|
rs63750753
|
|
|
NM_000179.3(MSH6):c.3260C>G (p.Pro1087Arg)
|
rs63750753
|
|
|
NM_000179.3(MSH6):c.334A>G (p.Asn112Asp)
|
rs864622397
|
|
|
NM_000179.3(MSH6):c.3364C>G (p.Gln1122Glu)
|
rs1060502892
|
|
|
NM_000179.3(MSH6):c.3375C>T (p.Gly1125=)
|
rs765577023
|
|
|
NM_000179.3(MSH6):c.3438+8dup
|
rs878853734
|
|
|
NM_000179.3(MSH6):c.3456A>G (p.Val1152=)
|
rs750998416
|
|
|
NM_000179.3(MSH6):c.3557-10T>G
|
rs2104521319
|
|
|
NM_000179.3(MSH6):c.3557-4del
|
rs267608102
|
|
|
NM_000179.3(MSH6):c.3557-7_3557-4del
|
rs267608102
|
|
|
NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu)
|
rs202066386
|
|
|
NM_000179.3(MSH6):c.3758T>C (p.Val1253Ala)
|
rs202066386
|
|
|
NM_000179.3(MSH6):c.3802-8T>G
|
rs864622195
|
|
|
NM_000179.3(MSH6):c.3836G>A (p.Ser1279Asn)
|
rs864622400
|
|
|
NM_000179.3(MSH6):c.3843G>A (p.Glu1281=)
|
rs864622384
|
|
|
NM_000179.3(MSH6):c.3930G>A (p.Glu1310=)
|
rs267608129
|
|
|
NM_000179.3(MSH6):c.3969_4001+52dup
|
rs1553333718
|
|
|
NM_000179.3(MSH6):c.3990A>G (p.Leu1330=)
|
rs1558394684
|
|
|
NM_000179.3(MSH6):c.3992G>A (p.Arg1331Gln)
|
rs184131049
|
|
|
NM_000179.3(MSH6):c.4001+2TAAC[2]
|
rs267608132
|
|
|
NM_000179.3(MSH6):c.4001+4_4001+8dup
|
rs587782853
|
|
|
NM_000179.3(MSH6):c.4001+5C>T
|
rs786202305
|
|
|
NM_000179.3(MSH6):c.4002-11_4002-10del
|
rs59056100
|
|
|
NM_000179.3(MSH6):c.4002-11_4002-10delinsA
|
rs1553333946
|
|
|
NM_000179.3(MSH6):c.4002-8dup
|
rs267608139
|
|
|
NM_000179.3(MSH6):c.4064_*23dup (p.Leu1354_Ter1361=)
|
rs760782238
|
|
|
NM_000179.3(MSH6):c.4068G>A (p.Leu1356=)
|
rs192740549
|
|
|
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer)
|
rs55740729
|
|
|
NM_000179.3(MSH6):c.4071_*4dup (p.Ile1357_Ter1361=)
|
rs1491544951
|
|
|
NM_000179.3(MSH6):c.4082del (p.Leu1360_Ter1361insTer)
|
rs1553334124
|
|
|
NM_000179.3(MSH6):c.4083GACT[3] (p.Ter1361=)
|
rs765313977
|
|
|
NM_000179.3(MSH6):c.432C>T (p.Ser144=)
|
rs1046304919
|
|
|
NM_000179.3(MSH6):c.457+32TG[12]
|
rs397839804
|
|
|
NM_000179.3(MSH6):c.457+3A>G
|
rs1060502921
|
|
|
NM_000179.3(MSH6):c.458-9T>C
|
rs1572716040
|
|
|
NM_000179.3(MSH6):c.627+3G>A
|
rs876659495
|
|
|
NM_000179.3(MSH6):c.628-7C>T
|
rs373129248
|
|
|
NM_000179.3(MSH6):c.818G>T (p.Gly273Val)
|
rs769610487
|
|
|
NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu)
|
rs267608079
|
|
|
NM_000179.3(MSH6):c.905G>C (p.Arg302Thr)
|
rs587781510
|
|
|
NM_000179.3(MSH6):c.921T>C (p.Asn307=)
|
rs876659492
|
|
|
NM_000179.3(MSH6):c.945T>G (p.Ser315=)
|
rs761581941
|
|
|
NM_000179.3(MSH6):c.968C>T (p.Thr323Ile)
|
rs777890307
|
|
|
NM_000179.3(MSH6):c.975A>G (p.Gln325=)
|
rs193922345
|
|
|
NM_000179.3(MSH6):c.982A>G (p.Ser328Gly)
|
rs1572721137
|
|
|
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del)
|
rs552184470
|
|
|
NM_000181.4(GUSB):c.1916_1918dup (p.Val639dup)
|
rs770237165
|
|
|
NM_000181.4(GUSB):c.45G>A (p.Leu15=)
|
rs886062404
|
|
|
NM_000186.4(CFH):c.2783-3del
|
rs748791414
|
|
|
NM_000186.4(CFH):c.2956+13G>A
|
rs572034879
|
|
|
NM_000186.4(CFH):c.3134-5T>C
|
rs513699
|
|
|
NM_000186.4(CFH):c.7C>G (p.Leu3Val)
|
rs139254423
|
|
|
NM_000187.4(HGD):c.474G>A (p.Pro158=)
|
rs2293734
|
|
|
NM_000187.4(HGD):c.880-4A>G
|
rs781667761
|
|
|
NM_000190.4(HMBS):c.962G>A (p.Arg321His)
|
rs150428209
|
|
|
NM_000191.3(HMGCL):c.528T>C (p.Tyr176=)
|
rs112508527
|
|
|
NM_000191.3(HMGCL):c.630C>T (p.Thr210=)
|
rs886046313
|
|
|
NM_000191.3(HMGCL):c.708C>T (p.Asp236=)
|
rs886046312
|
|
|
NM_000191.3(HMGCL):c.750+14T>A
|
rs778868742
|
|
|
NM_000191.3(HMGCL):c.765C>T (p.Val255=)
|
rs778296169
|
|
|
NM_000191.3(HMGCL):c.795C>G (p.Gly265=)
|
rs1488079271
|
|
|
NM_000193.4(SHH):c.*8G>T
|
|
|
|
NM_000194.3(HPRT1):c.134+6_134+9del
|
rs794727238
|
|
|
NM_000195.5(HPS1):c.1531C>A (p.Arg511=)
|
rs147748659
|
|
|
NM_000195.5(HPS1):c.1653T>G (p.Thr551=)
|
rs765995574
|
|
|
NM_000195.5(HPS1):c.1744-5C>T
|
rs369429846
|
|
|
NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val)
|
rs1554892764
|
|
|
NM_000198.4(HSD3B2):c.1056C>G (p.Thr352=)
|
rs781770416
|
|
|
NM_000198.4(HSD3B2):c.465G>A (p.Pro155=)
|
rs114527791
|
|
|
NM_000199.5(SGSH):c.506+13G>T
|
rs201177560
|
|
|
NM_000199.5(SGSH):c.658G>T (p.Val220Leu)
|
rs150508741
|
|
|
NM_000199.5(SGSH):c.89-18_89-15del
|
rs768357480
|
|
|
NM_000199.5(SGSH):c.981G>A (p.Ser327=)
|
rs143223388
|
|
|
NM_000202.8(IDS):c.419-16dup
|
rs781852261
|
|
|
NM_000202.8(IDS):c.419-6del
|
rs781852261
|
|
|
NM_000202.8(IDS):c.575C>G (p.Pro192Arg)
|
|
|
|
NM_000202.8(IDS):c.934G>A (p.Gly312Ser)
|
rs903259179
|
|
|
NM_000203.5(IDUA):c.1149C>T (p.Arg383=)
|
rs767632084
|
|
|
NM_000203.5(IDUA):c.1491G>A (p.Thr497=)
|
rs374102243
|
|
|
NM_000203.5(IDUA):c.1525-3dup
|
rs762593235
|
|
|
NM_000203.5(IDUA):c.1650+12T>C
|
rs1715248390
|
|
|
NM_000203.5(IDUA):c.1651-10C>T
|
rs548878643
|
|
|
NM_000203.5(IDUA):c.1651-7C>A
|
rs934115207
|
|
|
NM_000203.5(IDUA):c.1727+9G>T
|
rs771420258
|
|
|
NM_000203.5(IDUA):c.493+6C>G
|
rs376738689
|
|
|
NM_000203.5(IDUA):c.618G>A (p.Ser206=)
|
rs377312287
|
|
|
NM_000203.5(IDUA):c.793-9C>T
|
rs375798875
|
|
|
NM_000203.5(IDUA):c.837C>T (p.Val279=)
|
rs758749484
|
|
|
NM_000206.3(IL2RG):c.318A>G (p.Leu106=)
|
rs1389116834
|
|
|
NM_000207.3(INS):c.130_144del (p.Gly44_Phe48del)
|
rs1554920854
|
|
|
NM_000207.3(INS):c.320ACT[1] (p.Tyr108del)
|
rs1554920552
|
|
|
NM_000208.4(INSR):c.3165G>A (p.Ala1055=)
|
rs201445608
|
|
|
NM_000208.4(INSR):c.653-9T>C
|
rs868296217
|
|
|
NM_000209.4(PDX1):c.285G>A (p.Pro95=)
|
rs797045885
|
|
|
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys)
|
rs137852787
|
|
|
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr)
|
rs192902098
|
|
|
NM_000209.4(PDX1):c.97C>G (p.Pro33Ala)
|
rs192902098
|
|
|
NM_000211.5(ITGB2):c.1084-5C>T
|
rs781696813
|
|
|
NM_000211.5(ITGB2):c.1464G>A (p.Arg488=)
|
rs202051683
|
|
|
NM_000211.5(ITGB2):c.1944G>A (p.Pro648=)
|
rs139840790
|
|
|
NM_000211.5(ITGB2):c.1968C>T (p.Pro656=)
|
rs766106686
|
|
|
NM_000211.5(ITGB2):c.591G>A (p.Glu197=)
|
rs768833543
|
|
|
NM_000212.3(ITGB3):c.2249G>A (p.Arg750Gln)
|
|
|
|
NM_000212.3(ITGB3):c.2328C>T (p.Ala776=)
|
rs563420692
|
|
|
NM_000213.5(ITGB4):c.2422G>A (p.Ala808Thr)
|
rs147480547
|
|
|
NM_000213.5(ITGB4):c.2521G>A (p.Ala841Thr)
|
|
|
|
NM_000213.5(ITGB4):c.3265G>C (p.Gly1089Arg)
|
|
|
|
NM_000213.5(ITGB4):c.3810G>A (p.Met1270Ile)
|
|
|
|
NM_000213.5(ITGB4):c.4709-8C>A
|
rs371797130
|
|
|
NM_000213.5(ITGB4):c.599C>T (p.Pro200Leu)
|
rs148770294
|
|
|
NM_000214.3(JAG1):c.*1531TG[1]
|
rs765273169
|
|
|
NM_000214.3(JAG1):c.*959GTTT[2]
|
rs748163677
|
|
|
NM_000214.3(JAG1):c.2579G>A (p.Gly860Glu)
|
rs762121866
|
|
|
NM_000214.3(JAG1):c.294C>G (p.Ser98=)
|
rs79338570
|
|
|
NM_000215.4(JAK3):c.1786+13C>T
|
rs781208496
|
|
|
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser)
|
rs149452625
|
|
|
NM_000215.4(JAK3):c.297G>A (p.Leu99=)
|
rs3212716
|
|
|
NM_000215.4(JAK3):c.648G>T (p.Thr216=)
|
rs200376035
|
|
|
NM_000215.4(JAK3):c.938G>A (p.Gly313Glu)
|
rs200319694
|
|
|
NM_000218.3(KCNQ1):c.*4G>A
|
rs1157661362
|
|
|
NM_000218.3(KCNQ1):c.*7del
|
rs756899141
|
|
|
NM_000218.3(KCNQ1):c.1033-12A>C
|
rs200423553
|
|
|
NM_000218.3(KCNQ1):c.1129-8G>A
|
rs200612600
|
|
|
NM_000218.3(KCNQ1):c.1251+13C>A
|
rs201364493
|
|
|
NM_000218.3(KCNQ1):c.1251+13C>T
|
rs201364493
|
|
|
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu)
|
rs12720449
|
|
|
NM_000218.3(KCNQ1):c.1394-8C>T
|
rs371488379
|
|
|
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup)
|
rs397515877
|
|
|
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=)
|
rs112113213
|
|
|
NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter)
|
rs11601907
|
|
|
NM_000218.3(KCNQ1):c.683+4C>T
|
rs554698776
|
|
|
NM_000218.3(KCNQ1):c.684-4G>A
|
rs750965939
|
|
|
NM_000218.3(KCNQ1):c.879C>A (p.Arg293=)
|
rs181106858
|
|
|
NM_000218.3(KCNQ1):c.960C>T (p.Pro320=)
|
|
|
|
NM_000219.6(KCNE1):c.112_113delinsGA (p.Ser38Asp)
|
rs1064795410
|
|
|
NM_000222.3(KIT):c.1185C>A (p.Ser395=)
|
rs755864184
|
|
|
NM_000222.3(KIT):c.1232-6C>G
|
rs1553890995
|
|
|
NM_000228.3(LAMB3):c.3228+11G>A
|
rs1420480218
|
|
|
NM_000229.2(LCAT):c.1310C>T (p.Pro437Leu)
|
|
|
|
NM_000229.2(LCAT):c.8C>T (p.Pro3Leu)
|
|
|
|
NM_000231.3(SGCG):c.*136T>A
|
rs3751372
|
|
|
NM_000231.3(SGCG):c.507G>T (p.Gly169=)
|
rs199905729
|
|
|
NM_000232.5(SGCB):c.111C>T (p.Asn37=)
|
rs2109376000
|
|
|
NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser)
|
rs398123263
|
|
|
NM_000232.5(SGCB):c.430-5dup
|
rs762831481
|
|
|
NM_000232.5(SGCB):c.90G>A (p.Arg30=)
|
rs11541942
|
|
|
NM_000232.5(SGCB):c.9_14dup (p.Ala8_Ala9dup)
|
rs886044103
|
|
|
NM_000233.4(LHCGR):c.337T>A (p.Tyr113Asn)
|
rs140691492
|
|
|
NM_000234.3(LIG1):c.2535G>T (p.Lys845Asn)
|
rs145821638
|
|
|
NM_000235.4(LIPA):c.1032C>G (p.His344Gln)
|
rs779601441
|
|
|
NM_000235.4(LIPA):c.230-15A>G
|
rs199978109
|
|
|
NM_000235.4(LIPA):c.429-10T>G
|
rs1554865817
|
|
|
NM_000235.4(LIPA):c.539-5C>A
|
rs2297472
|
|
|
NM_000235.4(LIPA):c.615C>G (p.Ser205=)
|
rs143930279
|
|
|
NM_000235.4(LIPA):c.615C>T (p.Ser205=)
|
rs143930279
|
|
|
NM_000235.4(LIPA):c.618C>T (p.Val206=)
|
rs763651849
|
|
|
NM_000235.4(LIPA):c.676-14T>A
|
rs886047471
|
|
|
NM_000235.4(LIPA):c.885C>T (p.His295=)
|
rs886044197
|
|
|
NM_000237.3(LPL):c.250-8_250-6del
|
|
|
|
NM_000237.3(LPL):c.290C>T (p.Ala97Val)
|
rs201946950
|
|
|
NM_000238.4(KCNH2):c.1320G>T (p.Pro440=)
|
rs144926928
|
|
|
NM_000238.4(KCNH2):c.2398+105del
|
rs546898924
|
|
|
NM_000238.4(KCNH2):c.2592+3G>A
|
rs906562788
|
|
|
NM_000238.4(KCNH2):c.2653C>T (p.Arg885Cys)
|
rs143512106
|
|
|
NM_000238.4(KCNH2):c.2692+8G>A
|
rs200032281
|
|
|
NM_000238.4(KCNH2):c.2771G>C (p.Gly924Ala)
|
rs199473009
|
|
|
NM_000238.4(KCNH2):c.3357G>A (p.Glu1119=)
|
rs1389024546
|
|
|
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1])
|
rs551056698
|
|
|
NM_000238.4(KCNH2):c.77-5C>T
|
rs72549419
|
|
|
NM_000243.3(MEFV):c.1005C>T (p.Pro335=)
|
rs567739580
|
|
|
NM_000243.3(MEFV):c.1092G>A (p.Pro364=)
|
rs11466022
|
|
|
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu)
|
rs11466026
|
|
|
NM_000243.3(MEFV):c.1352T>G (p.Phe451Cys)
|
rs1958986915
|
|
|
NM_000243.3(MEFV):c.1368A>C (p.Glu456Asp)
|
rs1567233429
|
|
|
NM_000243.3(MEFV):c.1459G>A (p.Val487Met)
|
rs104895100
|
|
|
NM_000243.3(MEFV):c.1522C>T (p.Leu508=)
|
rs199937453
|
|
|
NM_000243.3(MEFV):c.1759+11C>T
|
rs370349451
|
|
|
NM_000243.3(MEFV):c.201_202delinsTT (p.Gln68Ter)
|
rs1959115695
|
|
|
NM_000243.3(MEFV):c.2271C>T (p.Ser757=)
|
rs772754956
|
|
|
NM_000243.3(MEFV):c.2287G>A (p.Gly763Arg)
|
rs2141664466
|
|
|
NM_000243.3(MEFV):c.330G>A (p.Leu110=)
|
rs104895177
|
|
|
NM_000243.3(MEFV):c.342G>A (p.Lys114=)
|
rs981883034
|
|
|
NM_000243.3(MEFV):c.343C>A (p.Pro115Thr)
|
rs147557169
|
|
|
NM_000243.3(MEFV):c.410del (p.Gly137fs)
|
rs767006697
|
|
|
NM_000243.3(MEFV):c.414A>T (p.Gly138=)
|
rs224224
|
|
|
NM_000243.3(MEFV):c.548C>T (p.Pro183Leu)
|
rs777009752
|
|
|
NM_000243.3(MEFV):c.564C>G (p.Pro188=)
|
rs775755423
|
|
|
NM_000243.3(MEFV):c.564C>T (p.Pro188=)
|
rs775755423
|
|
|
NM_000243.3(MEFV):c.585G>A (p.Glu195=)
|
rs200766991
|
|
|
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp)
|
rs104895179
|
|
|
NM_000243.3(MEFV):c.751G>A (p.Glu251Lys)
|
rs104895111
|
|
|
NM_000243.3(MEFV):c.933G>A (p.Ala311=)
|
rs774547197
|
|
|
NM_000245.4(MET):c.2584-7del
|
rs587780736
|
|
|
NM_000245.4(MET):c.3936-13_3936-10del
|
rs745366999
|
|
|
NM_000245.4(MET):c.713T>C (p.Leu238Ser)
|
rs34349517
|
|
|
NM_000246.4(CIITA):c.1044G>T (p.Thr348=)
|
rs140683241
|
|
|
NM_000246.4(CIITA):c.2142A>G (p.Gln714=)
|
rs188988714
|
|
|
NM_000246.4(CIITA):c.2148C>T (p.Phe716=)
|
rs762483007
|
|
|
NM_000246.4(CIITA):c.2259C>T (p.Gly753=)
|
rs754313400
|
|
|
NM_000246.4(CIITA):c.2331G>A (p.Ser777=)
|
rs34685848
|
|
|
NM_000246.4(CIITA):c.2658-10C>T
|
rs1337213724
|
|
|
NM_000246.4(CIITA):c.2832G>T (p.Ser944=)
|
rs766538754
|
|
|
NM_000246.4(CIITA):c.3123G>C (p.Ser1041=)
|
rs138925894
|
|
|
NM_000246.4(CIITA):c.3261C>G (p.Ala1087=)
|
rs149640268
|
|
|
NM_000246.4(CIITA):c.366A>T (p.Ile122=)
|
rs535705691
|
|
|
NM_000246.4(CIITA):c.492C>G (p.Pro164=)
|
rs142478532
|
|
|
NM_000246.4(CIITA):c.649T>C (p.Leu217=)
|
rs773897183
|
|
|
NM_000246.4(CIITA):c.950C>A (p.Ser317Tyr)
|
rs116253192
|
|
|
NM_000246.4(CIITA):c.965C>T (p.Pro322Leu)
|
rs74806537
|
|
|
NM_000249.3(MLH1):c.-107C>G
|
rs587778886
|
|
|
NM_000249.4(MLH1):c.*32CTT[1]
|
rs193922366
|
|
|
NM_000249.4(MLH1):c.-15T>C
|
rs764112241
|
|
|
NM_000249.4(MLH1):c.-8G>T
|
rs761672073
|
|
|
NM_000249.4(MLH1):c.1075A>T (p.Met359Leu)
|
rs1553650626
|
|
|
NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg)
|
rs766904735
|
|
|
NM_000249.4(MLH1):c.1123A>G (p.Ser375Gly)
|
rs1060500694
|
|
|
NM_000249.4(MLH1):c.1136A>C (p.Tyr379Ser)
|
rs143009528
|
|
|
NM_000249.4(MLH1):c.1136A>G (p.Tyr379Cys)
|
rs143009528
|
|
|
NM_000249.4(MLH1):c.1185A>G (p.Ala395=)
|
rs878853774
|
|
|
NM_000249.4(MLH1):c.1231A>G (p.Ile411Val)
|
rs535470039
|
|
|
NM_000249.4(MLH1):c.1266C>T (p.Gly422=)
|
rs63750791
|
|
|
NM_000249.4(MLH1):c.1268G>A (p.Arg423Lys)
|
rs370687064
|
|
|
NM_000249.4(MLH1):c.1318G>A (p.Val440Met)
|
rs864622250
|
|
|
NM_000249.4(MLH1):c.1331A>G (p.Asn444Ser)
|
rs763189331
|
|
|
NM_000249.4(MLH1):c.1365T>A (p.Thr455=)
|
rs753671152
|
|
|
NM_000249.4(MLH1):c.1410-4G>T
|
rs1057520517
|
|
|
NM_000249.4(MLH1):c.1410-8C>T
|
rs1057521668
|
|
|
NM_000249.4(MLH1):c.1420C>G (p.Arg474Gly)
|
rs147939838
|
|
|
NM_000249.4(MLH1):c.1487C>G (p.Pro496Arg)
|
rs63750226
|
|
|
NM_000249.4(MLH1):c.1569G>T (p.Glu523Asp)
|
rs63751680
|
|
|
NM_000249.4(MLH1):c.1572G>T (p.Met524Ile)
|
rs587779953
|
|
|
NM_000249.4(MLH1):c.1667+4A>G
|
rs983986337
|
|
|
NM_000249.4(MLH1):c.1668-4del
|
rs764870822
|
|
|
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)
|
rs35502531
|
|
|
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr)
|
rs63750449
|
|
|
NM_000249.4(MLH1):c.1897-2A>G
|
rs267607871
|
|
|
NM_000249.4(MLH1):c.2059C>A (p.Arg687=)
|
rs63751275
|
|
|
NM_000249.4(MLH1):c.2074T>C (p.Ser692Pro)
|
rs587779957
|
|
|
NM_000249.4(MLH1):c.2155A>G (p.Ile719Val)
|
rs754225520
|
|
|
NM_000249.4(MLH1):c.2173C>T (p.Arg725Cys)
|
rs138584384
|
|
|
NM_000249.4(MLH1):c.290A>G (p.Tyr97Cys)
|
rs773647920
|
|
|
NM_000249.4(MLH1):c.380+10T>C
|
rs1553641403
|
|
|
NM_000249.4(MLH1):c.399A>G (p.Gly133=)
|
rs1559521083
|
|
|
NM_000249.4(MLH1):c.478G>T (p.Ala160Ser)
|
rs876659332
|
|
|
NM_000249.4(MLH1):c.479C>T (p.Ala160Val)
|
rs63749924
|
|
|
NM_000249.4(MLH1):c.516A>G (p.Glu172=)
|
rs748128054
|
|
|
NM_000249.4(MLH1):c.546-5del
|
rs1553643965
|
|
|
NM_000249.4(MLH1):c.553G>A (p.Val185Ile)
|
rs63750012
|
|
|
NM_000249.4(MLH1):c.589-6T>G
|
rs781244266
|
|
|
NM_000249.4(MLH1):c.589-9_589-6del
|
rs587779026
|
|
|
NM_000249.4(MLH1):c.678-5A>G
|
rs1553645100
|
|
|
NM_000249.4(MLH1):c.7T>C (p.Phe3Leu)
|
rs878853790
|
|
|
NM_000249.4(MLH1):c.85G>T (p.Ala29Ser)
|
rs63750656
|
|
|
NM_000249.4(MLH1):c.885-15T>G
|
rs773112917
|
|
|
NM_000249.4(MLH1):c.885-21TC[2]
|
rs267607804
|
|
|
NM_000249.4(MLH1):c.885-8C>T
|
rs762836160
|
|
|
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys)
|
rs63749994
|
|
|
NM_000251.2(MSH2):c.-68G>A
|
rs576303132
|
|
|
NM_000251.3(MSH2):c.*10_*12del
|
rs764232113
|
|
|
NM_000251.3(MSH2):c.-8G>T
|
rs1064795641
|
|
|
NM_000251.3(MSH2):c.-9G>A
|
rs547444746
|
|
|
NM_000251.3(MSH2):c.1009C>G (p.Gln337Glu)
|
rs63750778
|
|
|
NM_000251.3(MSH2):c.1027A>G (p.Asn343Asp)
|
rs587779961
|
|
|
NM_000251.3(MSH2):c.103C>G (p.Arg35Gly)
|
rs1060502034
|
|
|
NM_000251.3(MSH2):c.1053G>C (p.Met351Ile)
|
rs373122667
|
|
|
NM_000251.3(MSH2):c.1057A>C (p.Lys353Gln)
|
rs2104252491
|
|
|
NM_000251.3(MSH2):c.1062C>T (p.Asn354=)
|
rs876659861
|
|
|
NM_000251.3(MSH2):c.1074G>C (p.Glu358Asp)
|
rs1477257356
|
|
|
NM_000251.3(MSH2):c.1082A>G (p.Asn361Ser)
|
rs587779072
|
|
|
NM_000251.3(MSH2):c.1109C>T (p.Ala370Val)
|
|
|
|
NM_000251.3(MSH2):c.1139T>C (p.Leu380Ser)
|
rs730881755
|
|
|
NM_000251.3(MSH2):c.1192G>A (p.Ala398Thr)
|
rs988252817
|
|
|
NM_000251.3(MSH2):c.1204C>G (p.Gln402Glu)
|
rs63751412
|
|
|
NM_000251.3(MSH2):c.1208A>G (p.Asp403Gly)
|
|
|
|
NM_000251.3(MSH2):c.1217G>T (p.Arg406Leu)
|
rs146567853
|
|
|
NM_000251.3(MSH2):c.1225C>G (p.Gln409Glu)
|
rs151244108
|
|
|
NM_000251.3(MSH2):c.1243C>T (p.Pro415Ser)
|
rs35717997
|
|
|
NM_000251.3(MSH2):c.1250T>G (p.Val417Gly)
|
rs876659846
|
|
|
NM_000251.3(MSH2):c.126C>G (p.Phe42Leu)
|
rs730881766
|
|
|
NM_000251.3(MSH2):c.1276+23del
|
rs587779081
|
|
|
NM_000251.3(MSH2):c.1281A>T (p.Lys427Asn)
|
rs1553361147
|
|
|
NM_000251.3(MSH2):c.128A>T (p.Tyr43Phe)
|
rs17217723
|
|
|
NM_000251.3(MSH2):c.1303G>C (p.Val435Leu)
|
rs876658240
|
|
|
NM_000251.3(MSH2):c.1321A>T (p.Thr441Ser)
|
rs587779086
|
|
|
NM_000251.3(MSH2):c.1331G>A (p.Arg444His)
|
rs557339938
|
|
|
NM_000251.3(MSH2):c.1354G>A (p.Glu452Lys)
|
rs267607954
|
|
|
NM_000251.3(MSH2):c.1367C>T (p.Thr456Ile)
|
rs777963115
|
|
|
NM_000251.3(MSH2):c.1387-5T>C
|
rs757458333
|
|
|
NM_000251.3(MSH2):c.1387G>A (p.Val463Met)
|
rs1064793825
|
|
|
NM_000251.3(MSH2):c.1396C>T (p.His466Tyr)
|
rs876658457
|
|
|
NM_000251.3(MSH2):c.1405C>G (p.Leu469Val)
|
rs780702096
|
|
|
NM_000251.3(MSH2):c.1413A>C (p.Lys471Asn)
|
rs745874745
|
|
|
NM_000251.3(MSH2):c.1429A>T (p.Asn477Tyr)
|
rs587781346
|
|
|
NM_000251.3(MSH2):c.1483A>G (p.Thr495Ala)
|
rs730881757
|
|
|
NM_000251.3(MSH2):c.149C>A (p.Ala50Glu)
|
rs876658582
|
|
|
NM_000251.3(MSH2):c.14C>G (p.Pro5Arg)
|
rs56170584
|
|
|
NM_000251.3(MSH2):c.1547G>A (p.Ser516Asn)
|
rs373564353
|
|
|
NM_000251.3(MSH2):c.1549G>A (p.Ala517Thr)
|
rs1553366545
|
|
|
NM_000251.3(MSH2):c.1577C>T (p.Thr526Ile)
|
rs1204369578
|
|
|
NM_000251.3(MSH2):c.1595T>C (p.Val532Ala)
|
rs754778750
|
|
|
NM_000251.3(MSH2):c.1607A>G (p.Asn536Ser)
|
rs201722703
|
|
|
NM_000251.3(MSH2):c.160G>A (p.Ala54Thr)
|
rs749212640
|
|
|
NM_000251.3(MSH2):c.160G>T (p.Ala54Ser)
|
rs749212640
|
|
|
NM_000251.3(MSH2):c.1617T>A (p.Phe539Leu)
|
rs730881759
|
|
|
NM_000251.3(MSH2):c.1619G>A (p.Ser540Asn)
|
rs1553366622
|
|
|
NM_000251.3(MSH2):c.1625T>C (p.Val542Ala)
|
rs1553366630
|
|
|
NM_000251.3(MSH2):c.1642G>T (p.Gly548Cys)
|
rs63750538
|
|
|
NM_000251.3(MSH2):c.1658A>G (p.Asn553Ser)
|
rs2104185998
|
|
|
NM_000251.3(MSH2):c.1659C>T (p.Asn553=)
|
rs869312796
|
|
|
NM_000251.3(MSH2):c.166G>A (p.Glu56Lys)
|
rs587779102
|
|
|
NM_000251.3(MSH2):c.166G>C (p.Glu56Gln)
|
rs587779102
|
|
|
NM_000251.3(MSH2):c.1670C>T (p.Thr557Ile)
|
rs139920308
|
|
|
NM_000251.3(MSH2):c.1673C>T (p.Ser558Phe)
|
rs1553367602
|
|
|
NM_000251.3(MSH2):c.1688A>G (p.Tyr563Cys)
|
rs63751054
|
|
|
NM_000251.3(MSH2):c.1703C>G (p.Thr568Arg)
|
rs1285862035
|
|
|
NM_000251.3(MSH2):c.1706A>G (p.Glu569Gly)
|
rs786201077
|
|
|
NM_000251.3(MSH2):c.174C>A (p.Phe58Leu)
|
rs372189599
|
|
|
NM_000251.3(MSH2):c.174C>G (p.Phe58Leu)
|
rs372189599
|
|
|
NM_000251.3(MSH2):c.1760-4A>G
|
rs1060504409
|
|
|
NM_000251.3(MSH2):c.1761C>G (p.Gly587=)
|
rs920449426
|
|
|
NM_000251.3(MSH2):c.1765G>A (p.Val589Ile)
|
rs1064793981
|
|
|
NM_000251.3(MSH2):c.1770A>C (p.Glu590Asp)
|
rs760619442
|
|
|
NM_000251.3(MSH2):c.1771C>A (p.Pro591Thr)
|
rs951988481
|
|
|
NM_000251.3(MSH2):c.1789G>A (p.Asp597Asn)
|
rs765442101
|
|
|
NM_000251.3(MSH2):c.1798G>T (p.Ala600Ser)
|
rs587778526
|
|
|
NM_000251.3(MSH2):c.1803G>C (p.Gln601His)
|
rs1553368556
|
|
|
NM_000251.3(MSH2):c.1810G>A (p.Ala604Thr)
|
rs1553368568
|
|
|
NM_000251.3(MSH2):c.1813G>A (p.Val605Ile)
|
rs730881777
|
|
|
NM_000251.3(MSH2):c.1821C>G (p.Ser607Arg)
|
|
|
|
NM_000251.3(MSH2):c.1828C>T (p.His610Tyr)
|
rs267607980
|
|
|
NM_000251.3(MSH2):c.182A>C (p.Gln61Pro)
|
rs587779113
|
|
|
NM_000251.3(MSH2):c.182A>T (p.Gln61Leu)
|
rs587779113
|
|
|
NM_000251.3(MSH2):c.1831G>T (p.Val611Leu)
|
rs369385048
|
|
|
NM_000251.3(MSH2):c.183G>C (p.Gln61His)
|
rs751082926
|
|
|
NM_000251.3(MSH2):c.1843G>A (p.Ala615Thr)
|
rs1223047169
|
|
|
NM_000251.3(MSH2):c.1846C>A (p.Pro616Thr)
|
rs587782627
|
|
|
NM_000251.3(MSH2):c.1849G>C (p.Val617Leu)
|
rs1224364754
|
|
|
NM_000251.3(MSH2):c.184G>A (p.Gly62Arg)
|
rs767140240
|
|
|
NM_000251.3(MSH2):c.184G>C (p.Gly62Arg)
|
rs767140240
|
|
|
NM_000251.3(MSH2):c.1852C>G (p.Pro618Ala)
|
rs1573566801
|
|
|
NM_000251.3(MSH2):c.1882G>C (p.Gly628Arg)
|
rs371776176
|
|
|
NM_000251.3(MSH2):c.1892G>A (p.Arg631Lys)
|
rs1361816581
|
|
|
NM_000251.3(MSH2):c.1910C>G (p.Ser637Cys)
|
rs1064795992
|
|
|
NM_000251.3(MSH2):c.192C>A (p.Ile64=)
|
rs1395172053
|
|
|
NM_000251.3(MSH2):c.1935A>C (p.Gln645His)
|
rs587780684
|
|
|
NM_000251.3(MSH2):c.1945G>A (p.Ala649Thr)
|
rs786201822
|
|
|
NM_000251.3(MSH2):c.1951A>G (p.Ile651Val)
|
rs878853806
|
|
|
NM_000251.3(MSH2):c.1967A>C (p.Tyr656Ser)
|
rs185356145
|
|
|
NM_000251.3(MSH2):c.1986G>C (p.Gln662His)
|
rs587780685
|
|
|
NM_000251.3(MSH2):c.1993C>T (p.His665Tyr)
|
rs1573567600
|
|
|
NM_000251.3(MSH2):c.1A>C (p.Met1Leu)
|
rs267607911
|
|
|
NM_000251.3(MSH2):c.200T>A (p.Met67Lys)
|
rs876660001
|
|
|
NM_000251.3(MSH2):c.2012A>G (p.Asn671Ser)
|
rs1558519505
|
|
|
NM_000251.3(MSH2):c.2029A>G (p.Thr677Ala)
|
rs1553369013
|
|
|
NM_000251.3(MSH2):c.2043A>T (p.Gln681His)
|
rs730881763
|
|
|
NM_000251.3(MSH2):c.206C>G (p.Pro69Arg)
|
rs983555044
|
|
|
NM_000251.3(MSH2):c.2072T>C (p.Ile691Thr)
|
rs754824872
|
|
|
NM_000251.3(MSH2):c.207G>T (p.Pro69=)
|
rs1295445617
|
|
|
NM_000251.3(MSH2):c.20A>C (p.Glu7Ala)
|
rs530071578
|
|
|
NM_000251.3(MSH2):c.20A>G (p.Glu7Gly)
|
rs530071578
|
|
|
NM_000251.3(MSH2):c.2108C>G (p.Ser703Cys)
|
rs267607999
|
|
|
NM_000251.3(MSH2):c.211+3G>T
|
rs778940305
|
|
|
NM_000251.3(MSH2):c.212-4del
|
rs746333570
|
|
|
NM_000251.3(MSH2):c.212-9T>C
|
rs1573436092
|
|
|
NM_000251.3(MSH2):c.2120G>C (p.Cys707Ser)
|
rs373226409
|
|
|
NM_000251.3(MSH2):c.214G>A (p.Ala72Thr)
|
rs1558456993
|
|
|
NM_000251.3(MSH2):c.2152C>G (p.Gln718Glu)
|
rs587779139
|
|
|
NM_000251.3(MSH2):c.2160A>G (p.Lys720=)
|
rs2104376970
|
|
|
NM_000251.3(MSH2):c.2201C>G (p.Ser734Cys)
|
rs1553369204
|
|
|
NM_000251.3(MSH2):c.2219C>G (p.Thr740Ser)
|
rs1553369628
|
|
|
NM_000251.3(MSH2):c.2225A>T (p.Asp742Val)
|
rs1420354168
|
|
|
NM_000251.3(MSH2):c.2260A>G (p.Thr754Ala)
|
rs757268664
|
|
|
NM_000251.3(MSH2):c.2260A>T (p.Thr754Ser)
|
rs757268664
|
|
|
NM_000251.3(MSH2):c.2268C>G (p.Thr756=)
|
rs1404389752
|
|
|
NM_000251.3(MSH2):c.2288C>T (p.Ala763Val)
|
rs144412585
|
|
|
NM_000251.3(MSH2):c.2294C>T (p.Ala765Val)
|
rs1261458082
|
|
|
NM_000251.3(MSH2):c.2298A>G (p.Ile766Met)
|
rs1064795116
|
|
|
NM_000251.3(MSH2):c.2321T>C (p.Ile774Thr)
|
rs878853811
|
|
|
NM_000251.3(MSH2):c.2354A>C (p.His785Pro)
|
rs200252727
|
|
|
NM_000251.3(MSH2):c.2354A>G (p.His785Arg)
|
rs200252727
|
|
|
NM_000251.3(MSH2):c.2365G>A (p.Ala789Thr)
|
rs1553369769
|
|
|
NM_000251.3(MSH2):c.2366C>G (p.Ala789Gly)
|
rs876660292
|
|
|
NM_000251.3(MSH2):c.2380A>C (p.Ile794Leu)
|
rs1553369778
|
|
|
NM_000251.3(MSH2):c.2393A>G (p.Asn798Ser)
|
rs786204073
|
|
|
NM_000251.3(MSH2):c.23C>G (p.Thr8Arg)
|
rs17217716
|
|
|
NM_000251.3(MSH2):c.2402A>G (p.His801Arg)
|
rs1114167875
|
|
|
NM_000251.3(MSH2):c.242G>C (p.Ser81Thr)
|
rs1064793491
|
|
|
NM_000251.3(MSH2):c.242G>T (p.Ser81Ile)
|
rs1064793491
|
|
|
NM_000251.3(MSH2):c.2439G>C (p.Met813Ile)
|
rs587781678
|
|
|
NM_000251.3(MSH2):c.2457A>G (p.Lys819=)
|
rs774152293
|
|
|
NM_000251.3(MSH2):c.2458+10A>G
|
rs1269379998
|
|
|
NM_000251.3(MSH2):c.2491G>T (p.Ala831Ser)
|
rs1573578511
|
|
|
NM_000251.3(MSH2):c.2509C>T (p.Pro837Ser)
|
rs1198289499
|
|
|
NM_000251.3(MSH2):c.2522T>C (p.Ile841Thr)
|
rs1275767178
|
|
|
NM_000251.3(MSH2):c.2525A>G (p.Glu842Gly)
|
rs373393954
|
|
|
NM_000251.3(MSH2):c.2533A>G (p.Lys845Glu)
|
rs63750571
|
|
|
NM_000251.3(MSH2):c.2572G>A (p.Gly858Arg)
|
rs754533481
|
|
|
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del)
|
rs587781278
|
|
|
NM_000251.3(MSH2):c.2580G>T (p.Ser860=)
|
rs752428475
|
|
|
NM_000251.3(MSH2):c.2582A>T (p.Gln861Leu)
|
rs1313098392
|
|
|
NM_000251.3(MSH2):c.2587T>C (p.Tyr863His)
|
rs1573579032
|
|
|
NM_000251.3(MSH2):c.260C>A (p.Ser87Tyr)
|
rs587781447
|
|
|
NM_000251.3(MSH2):c.2615A>G (p.Lys872Arg)
|
rs587780686
|
|
|
NM_000251.3(MSH2):c.2616G>A (p.Lys872=)
|
rs1573579171
|
|
|
NM_000251.3(MSH2):c.2632G>C (p.Glu878Gln)
|
rs749543152
|
|
|
NM_000251.3(MSH2):c.263T>C (p.Phe88Ser)
|
rs1672553516
|
|
|
NM_000251.3(MSH2):c.2681T>C (p.Met894Thr)
|
rs1558526026
|
|
|
NM_000251.3(MSH2):c.2684C>T (p.Pro895Leu)
|
rs786203553
|
|
|
NM_000251.3(MSH2):c.2693A>C (p.Glu898Ala)
|
rs1060502037
|
|
|
NM_000251.3(MSH2):c.2708A>G (p.Asn903Ser)
|
rs876658389
|
|
|
NM_000251.3(MSH2):c.2714C>T (p.Thr905Ile)
|
rs267608022
|
|
|
NM_000251.3(MSH2):c.2717T>G (p.Ile906Arg)
|
rs587780687
|
|
|
NM_000251.3(MSH2):c.2721G>T (p.Lys907Asn)
|
|
|
|
NM_000251.3(MSH2):c.2726A>T (p.Lys909Ile)
|
rs34319539
|
|
|
NM_000251.3(MSH2):c.272A>C (p.Asp91Ala)
|
|
|
|
NM_000251.3(MSH2):c.2744T>C (p.Val915Ala)
|
rs1399941088
|
|
|
NM_000251.3(MSH2):c.2749G>A (p.Ala917Thr)
|
rs200581817
|
|
|
NM_000251.3(MSH2):c.2776A>G (p.Ile926Val)
|
rs995312903
|
|
|
NM_000251.3(MSH2):c.2786G>T (p.Arg929Leu)
|
rs587779967
|
|
|
NM_000251.3(MSH2):c.2798C>G (p.Thr933Ser)
|
rs587779968
|
|
|
NM_000251.3(MSH2):c.2801C>T (p.Thr934Met)
|
rs587779969
|
|
|
NM_000251.3(MSH2):c.308A>G (p.Tyr103Cys)
|
rs63751173
|
|
|
NM_000251.3(MSH2):c.323G>T (p.Gly108Val)
|
rs1183145967
|
|
|
NM_000251.3(MSH2):c.326A>G (p.Asn109Ser)
|
rs749545338
|
|
|
NM_000251.3(MSH2):c.338A>G (p.Lys113Arg)
|
rs1672561938
|
|
|
NM_000251.3(MSH2):c.34G>C (p.Glu12Gln)
|
rs917968387
|
|
|
NM_000251.3(MSH2):c.383T>G (p.Leu128Arg)
|
rs730881768
|
|
|
NM_000251.3(MSH2):c.398A>G (p.Asp133Gly)
|
rs984353312
|
|
|
NM_000251.3(MSH2):c.403C>G (p.Leu135Val)
|
rs193096019
|
|
|
NM_000251.3(MSH2):c.403C>T (p.Leu135Phe)
|
rs193096019
|
|
|
NM_000251.3(MSH2):c.433A>G (p.Ile145Val)
|
rs876659264
|
|
|
NM_000251.3(MSH2):c.464T>C (p.Val155Ala)
|
rs876658188
|
|
|
NM_000251.3(MSH2):c.464T>G (p.Val155Gly)
|
rs876658188
|
|
|
NM_000251.3(MSH2):c.470G>C (p.Gly157Ala)
|
rs765489269
|
|
|
NM_000251.3(MSH2):c.471C>T (p.Gly157=)
|
rs61756463
|
|
|
NM_000251.3(MSH2):c.496G>A (p.Val166Met)
|
rs1672668358
|
|
|
NM_000251.3(MSH2):c.507A>G (p.Ile169Met)
|
rs748762580
|
|
|
NM_000251.3(MSH2):c.54C>T (p.Gly18=)
|
rs63750777
|
|
|
NM_000251.3(MSH2):c.564G>C (p.Glu188Asp)
|
rs1553350883
|
|
|
NM_000251.3(MSH2):c.568C>G (p.Leu190Val)
|
rs763459034
|
|
|
NM_000251.3(MSH2):c.571C>T (p.Leu191Phe)
|
rs1553350898
|
|
|
NM_000251.3(MSH2):c.589A>G (p.Lys197Glu)
|
rs778573140
|
|
|
NM_000251.3(MSH2):c.605C>G (p.Pro202Arg)
|
rs1060502002
|
|
|
NM_000251.3(MSH2):c.617C>G (p.Thr206Ser)
|
rs876658623
|
|
|
NM_000251.3(MSH2):c.619G>A (p.Ala207Thr)
|
rs63750913
|
|
|
NM_000251.3(MSH2):c.638T>A (p.Leu213Gln)
|
rs1553350974
|
|
|
NM_000251.3(MSH2):c.640A>G (p.Arg214Gly)
|
rs1553350980
|
|
|
NM_000251.3(MSH2):c.672C>G (p.Ile224Met)
|
rs587779171
|
|
|
NM_000251.3(MSH2):c.679A>G (p.Arg227Gly)
|
rs756809051
|
|
|
NM_000251.3(MSH2):c.698C>G (p.Ser233Cys)
|
rs587781724
|
|
|
NM_000251.3(MSH2):c.700A>T (p.Thr234Ser)
|
rs1212577306
|
|
|
NM_000251.3(MSH2):c.721C>T (p.Leu241Phe)
|
rs1410859610
|
|
|
NM_000251.3(MSH2):c.726C>G (p.Asn242Lys)
|
rs748427458
|
|
|
NM_000251.3(MSH2):c.736A>C (p.Lys246Gln)
|
rs63750881
|
|
|
NM_000251.3(MSH2):c.743A>G (p.Lys248Arg)
|
rs1064794704
|
|
|
NM_000251.3(MSH2):c.755A>C (p.Gln252Pro)
|
rs370906735
|
|
|
NM_000251.3(MSH2):c.756G>C (p.Gln252His)
|
rs763639520
|
|
|
NM_000251.3(MSH2):c.75C>T (p.Gly25=)
|
rs1465620610
|
|
|
NM_000251.3(MSH2):c.776C>T (p.Pro259Leu)
|
rs866818044
|
|
|
NM_000251.3(MSH2):c.793G>T (p.Val265Phe)
|
rs1553352377
|
|
|
NM_000251.3(MSH2):c.79C>A (p.Pro27Thr)
|
rs878853826
|
|
|
NM_000251.3(MSH2):c.7G>T (p.Val3Leu)
|
rs1257347271
|
|
|
NM_000251.3(MSH2):c.812C>G (p.Ser271Cys)
|
rs139891783
|
|
|
NM_000251.3(MSH2):c.822C>G (p.Ile274Met)
|
rs781569442
|
|
|
NM_000251.3(MSH2):c.860G>A (p.Gly287Glu)
|
rs587782567
|
|
|
NM_000251.3(MSH2):c.865T>C (p.Phe289Leu)
|
rs1060502003
|
|
|
NM_000251.3(MSH2):c.871C>G (p.Leu291Val)
|
rs878853827
|
|
|
NM_000251.3(MSH2):c.888C>G (p.Phe296Leu)
|
rs876659918
|
|
|
NM_000251.3(MSH2):c.89C>T (p.Pro30Leu)
|
rs757892928
|
|
|
NM_000251.3(MSH2):c.900G>T (p.Met300Ile)
|
rs587782530
|
|
|
NM_000251.3(MSH2):c.904T>A (p.Leu302Met)
|
rs876660115
|
|
|
NM_000251.3(MSH2):c.911T>C (p.Ile304Thr)
|
rs1021303606
|
|
|
NM_000251.3(MSH2):c.923G>C (p.Arg308Thr)
|
rs1553352545
|
|
|
NM_000251.3(MSH2):c.932A>C (p.Asn311Thr)
|
|
|
|
NM_000251.3(MSH2):c.942+25_942+29del
|
rs11309117
|
|
|
NM_000251.3(MSH2):c.942+28_942+29del
|
rs11309117
|
|
|
NM_000251.3(MSH2):c.956A>G (p.Asp319Gly)
|
rs786204185
|
|
|
NM_000251.3(MSH2):c.965G>T (p.Gly322Val)
|
rs4987188
|
|
|
NM_000251.3(MSH2):c.97A>G (p.Thr33Ala)
|
rs63751107
|
|
|
NM_000251.3(MSH2):c.982G>A (p.Ala328Thr)
|
rs753237286
|
|
|
NM_000254.3(MTR):c.742G>A (p.Val248Met)
|
rs142648132
|
|
|
NM_000256.3(MYBPC3):c.-5T>C
|
rs886048383
|
|
|
NM_000256.3(MYBPC3):c.1008C>T (p.Ile336=)
|
rs397515880
|
|
|
NM_000256.3(MYBPC3):c.1084A>G (p.Ser362Gly)
|
rs730880633
|
|
|
NM_000256.3(MYBPC3):c.1822C>T (p.Pro608Ser)
|
rs730880552
|
|
|
NM_000256.3(MYBPC3):c.1827C>G (p.Ala609=)
|
rs535853707
|
|
|
NM_000256.3(MYBPC3):c.2077G>T (p.Ala693Ser)
|
rs771753579
|
|
|
NM_000256.3(MYBPC3):c.2504_2505delinsTT (p.Arg835Leu)
|
rs1595843667
|
|
|
NM_000256.3(MYBPC3):c.3057G>A (p.Val1019=)
|
rs750618688
|
|
|
NM_000256.3(MYBPC3):c.3229G>A (p.Ala1077Thr)
|
rs397516009
|
|
|
NM_000256.3(MYBPC3):c.3628-41_3628-17del
|
rs36212066
|
|
|
NM_000256.3(MYBPC3):c.362C>T (p.Pro121Leu)
|
rs551888783
|
|
|
NM_000256.3(MYBPC3):c.503T>C (p.Val168Ala)
|
rs727505267
|
|
|
NM_000256.3(MYBPC3):c.852-10C>G
|
rs750425291
|
|
|
NM_000257.4(MYH7):c.1059A>T (p.Thr353=)
|
rs1555338461
|
|
|
NM_000257.4(MYH7):c.1755C>T (p.Ile585=)
|
rs201860580
|
|
|
NM_000257.4(MYH7):c.2052G>A (p.Met684Ile)
|
rs727503262
|
|
|
NM_000257.4(MYH7):c.2923-5G>A
|
rs779010466
|
|
|
NM_000257.4(MYH7):c.3337-4dup
|
rs45504498
|
|
|
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser)
|
rs574005462
|
|
|
NM_000257.4(MYH7):c.3927C>A (p.Thr1309=)
|
rs1430666956
|
|
|
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys)
|
rs141764279
|
|
|
NM_000257.4(MYH7):c.4354-7C>T
|
rs370093487
|
|
|
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val)
|
rs397516214
|
|
|
NM_000257.4(MYH7):c.4985G>A (p.Arg1662His)
|
rs370328209
|
|
|
NM_000257.4(MYH7):c.5394C>T (p.Asp1798=)
|
rs777053791
|
|
|
NM_000257.4(MYH7):c.895+12C>A
|
rs186276057
|
|
|
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp)
|
rs139794067
|
|
|
NM_000260.4(MYO7A):c.133_153dup
|
|
|
|
NM_000260.4(MYO7A):c.1343+8G>T
|
rs2276278
|
|
|
NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln)
|
rs782023308
|
|
|
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His)
|
rs111033416
|
|
|
NM_000260.4(MYO7A):c.2120G>A (p.Arg707His)
|
rs782176754
|
|
|
NM_000260.4(MYO7A):c.2405G>A (p.Arg802His)
|
|
|
|
NM_000260.4(MYO7A):c.2468G>A (p.Arg823His)
|
rs533027065
|
|
|
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp)
|
rs200454015
|
|
|
NM_000260.4(MYO7A):c.2759G>T (p.Arg920Leu)
|
rs565162134
|
|
|
NM_000260.4(MYO7A):c.3388C>T (p.Leu1130=)
|
rs782397974
|
|
|
NM_000260.4(MYO7A):c.3927G>T (p.Val1309=)
|
rs181729570
|
|
|
NM_000260.4(MYO7A):c.4152+6dup
|
rs1956152029
|
|
|
NM_000260.4(MYO7A):c.4153-7C>A
|
rs369489756
|
|
|
NM_000260.4(MYO7A):c.4153-8C>A
|
rs143216377
|
|
|
NM_000260.4(MYO7A):c.4153-8C>G
|
rs143216377
|
|
|
NM_000260.4(MYO7A):c.4441+8G>A
|
rs766743441
|
|
|
NM_000260.4(MYO7A):c.470+6C>A
|
rs370905994
|
|
|
NM_000260.4(MYO7A):c.470+6C>T
|
rs370905994
|
|
|
NM_000260.4(MYO7A):c.5227C>A (p.Arg1743=)
|
rs111033287
|
|
|
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp)
|
rs111033287
|
|
|
NM_000260.4(MYO7A):c.5263G>A (p.Ala1755Thr)
|
rs762131185
|
|
|
NM_000260.4(MYO7A):c.5349C>A (p.Asp1783Glu)
|
rs201008835
|
|
|
NM_000260.4(MYO7A):c.5494C>A (p.Arg1832=)
|
rs748080151
|
|
|
NM_000260.4(MYO7A):c.5860C>G (p.Leu1954Val)
|
rs948962
|
|
|
NM_000260.4(MYO7A):c.6509C>T (p.Thr2170Ile)
|
rs544709413
|
|
|
NM_000260.4(MYO7A):c.984G>A (p.Leu328=)
|
|
|
|
NM_000262.3(NAGA):c.486C>G (p.Pro162=)
|
rs760003063
|
|
|
NM_000263.4(NAGLU):c.1541G>A (p.Arg514His)
|
|
|
|
NM_000263.4(NAGLU):c.1623G>C (p.Arg541=)
|
rs146438251
|
|
|
NM_000263.4(NAGLU):c.933C>G (p.Ala311=)
|
rs115888189
|
|
|
NM_000263.4(NAGLU):c.9GGTGGC[3] (p.4VA[3])
|
rs1024697806
|
|
|
NM_000264.5(PTCH1):c.113G>A (p.Gly38Glu)
|
rs143494325
|
|
|
NM_000264.5(PTCH1):c.113G>T (p.Gly38Val)
|
rs143494325
|
|
|
NM_000264.5(PTCH1):c.2215_2216delinsTT (p.His739Phe)
|
rs864622295
|
|
|
NM_000264.5(PTCH1):c.247T>C (p.Phe83Leu)
|
rs1263611523
|
|
|
NM_000264.5(PTCH1):c.2634C>A (p.Asp878Glu)
|
rs771732591
|
|
|
NM_000264.5(PTCH1):c.2703+12G>A
|
rs1295275193
|
|
|
NM_000264.5(PTCH1):c.3346G>A (p.Val1116Met)
|
rs201605273
|
|
|
NM_000264.5(PTCH1):c.3624C>T (p.Ala1208=)
|
rs149691476
|
|
|
NM_000264.5(PTCH1):c.3765C>A (p.Ile1255=)
|
rs758229027
|
|
|
NM_000264.5(PTCH1):c.4020C>T (p.Gly1340=)
|
rs773564643
|
|
|
NM_000264.5(PTCH1):c.4087G>C (p.Gly1363Arg)
|
rs767625820
|
|
|
NM_000264.5(PTCH1):c.40GGC[3] (p.Gly17del)
|
rs756897237
|
|
|
NM_000264.5(PTCH1):c.431G>A (p.Arg144His)
|
rs1316474105
|
|
|
NM_000264.5(PTCH1):c.63C>T (p.Ile21=)
|
rs1284183739
|
|
|
NM_000264.5(PTCH1):c.875T>C (p.Met292Thr)
|
rs748727674
|
|
|
NM_000268.4(NF2):c.150G>A (p.Val50=)
|
rs1601578932
|
|
|
NM_000268.4(NF2):c.1714A>C (p.Ser572Arg)
|
rs1379683835
|
|
|
NM_000270.4(PNP):c.159C>A (p.Ile53=)
|
rs367991537
|
|
|
NM_000271.5(NPC1):c.1089G>T (p.Ala363=)
|
rs901122746
|
|
|
NM_000271.5(NPC1):c.1521C>T (p.Ala507=)
|
rs780100866
|
|
|
NM_000271.5(NPC1):c.180+13T>C
|
rs556162692
|
|
|
NM_000271.5(NPC1):c.180+8C>A
|
rs778096289
|
|
|
NM_000271.5(NPC1):c.1947+10G>T
|
rs71534236
|
|
|
NM_000271.5(NPC1):c.1947+10_1947+11insGGC
|
rs1555634676
|
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insGGC
|
rs547107514
|
|
|
NM_000271.5(NPC1):c.1947+12G>C
|
rs886053666
|
|
|
NM_000271.5(NPC1):c.1947+13G>T
|
rs568769965
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGG
|
rs1555634618
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGGGG
|
rs1555634618
|
|
|
NM_000271.5(NPC1):c.2079G>A (p.Leu693=)
|
rs2058754303
|
|
|
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe)
|
rs145362908
|
|
|
NM_000271.5(NPC1):c.2973G>A (p.Gln991=)
|
rs201118975
|
|
|
NM_000271.5(NPC1):c.3321C>A (p.Gly1107=)
|
rs376210355
|
|
|
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)
|
rs55724504
|
|
|
NM_000271.5(NPC1):c.3693C>T (p.Ala1231=)
|
rs1374064168
|
|
|
NM_000271.5(NPC1):c.3755-16TC[7]
|
rs760529810
|
|
|
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr)
|
rs111256741
|
|
|
NM_000271.5(NPC1):c.984C>T (p.Ser328=)
|
rs760861487
|
|
|
NM_000274.4(OAT):c.123T>C (p.Asp41=)
|
rs376051303
|
|
|
NM_000274.4(OAT):c.521-6T>G
|
rs369018496
|
|
|
NM_000274.4(OAT):c.966A>T (p.Thr322=)
|
rs1951417723
|
|
|
NM_000275.3(OCA2):c.1015G>T (p.Ala339Ser)
|
rs148468031
|
|
|
NM_000275.3(OCA2):c.2208G>T (p.Ser736=)
|
rs1800418
|
|
|
NM_000276.4(OCRL):c.471T>G (p.Ser157=)
|
rs747396791
|
|
|
NM_000277.3(PAH):c.1065+9T>G
|
rs1874730997
|
|
|
NM_000277.3(PAH):c.1066-7C>T
|
rs1242756437
|
|
|
NM_000277.3(PAH):c.285C>T (p.Ile95=)
|
rs1877427309
|
|
|
NM_000277.3(PAH):c.353-7_353-5dup
|
rs1452763334
|
|
|
NM_000277.3(PAH):c.456T>C (p.Pro152=)
|
rs377244118
|
|
|
NM_000277.3(PAH):c.500A>G (p.Asn167Ser)
|
rs77554925
|
|
|
NM_000277.3(PAH):c.54T>C (p.Phe18=)
|
rs1878411076
|
|
|
NM_000282.4(PCCA):c.1651G>A (p.Val551Ile)
|
rs61749895
|
|
|
NM_000282.4(PCCA):c.1884G>A (p.Gln628=)
|
rs552141237
|
|
|
NM_000282.4(PCCA):c.1953G>A (p.Leu651=)
|
rs765771203
|
|
|
NM_000282.4(PCCA):c.2017G>C (p.Val673Leu)
|
rs142646074
|
|
|
NM_000282.4(PCCA):c.2040+9TG[3]
|
rs751014655
|
|
|
NM_000282.4(PCCA):c.42C>T (p.Ala14=)
|
rs200714802
|
|
|
NM_000282.4(PCCA):c.914+8T>A
|
rs543352333
|
|
|
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly)
|
rs146927771
|
|
|
NM_000282.4(PCCA):c.999G>A (p.Gly333=)
|
rs2063427075
|
|
|
NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa)
|
rs762505127
|
|
|
NM_000287.4(PEX6):c.1774G>A (p.Glu592Lys)
|
rs375288192
|
|
|
NM_000287.4(PEX6):c.2301-5_2301-2del
|
rs748032659
|
|
|
NM_000287.4(PEX6):c.855C>A (p.Pro285=)
|
rs757897959
|
|
|
NM_000288.4(PEX7):c.130+10C>A
|
rs794726882
|
|
|
NM_000288.4(PEX7):c.130+11G>T
|
rs886061119
|
|
|
NM_000288.4(PEX7):c.130+13C>A
|
rs886061120
|
|
|
NM_000288.4(PEX7):c.330C>T (p.His110=)
|
rs199648976
|
|
|
NM_000289.6(PFKM):c.1063-6C>A
|
rs371033104
|
|
|
NM_000289.6(PFKM):c.1063-7C>T
|
rs776228408
|
|
|
NM_000289.6(PFKM):c.1192-3_1192-2del
|
rs780969059
|
|
|
NM_000290.4(PGAM2):c.455C>T (p.Thr152Ile)
|
rs199869174
|
|
|
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys)
|
rs34667348
|
|
|
NM_000294.3(PHKG2):c.271+14C>T
|
rs572169140
|
|
|
NM_000294.3(PHKG2):c.556+11C>G
|
rs2053379816
|
|
|
NM_000294.3(PHKG2):c.927+13G>A
|
rs371298131
|
|
|
NM_000294.3(PHKG2):c.96-7C>G
|
rs898984695
|
|
|
NM_000295.5(SERPINA1):c.1095C>T (p.Asp365=)
|
rs201774333
|
|
|
NM_000295.5(SERPINA1):c.514G>A (p.Gly172Arg)
|
rs112030253
|
|
|
NM_000295.5(SERPINA1):c.514G>T (p.Gly172Trp)
|
rs112030253
|
|
|
NM_000295.5(SERPINA1):c.552C>T (p.Tyr184=)
|
rs199422210
|
|
|
NM_000297.4(PKD2):c.2846C>G (p.Ser949Cys)
|
rs749666891
|
|
|
NM_000297.4(PKD2):c.596-59A>G
|
|
|
|
NM_000298.6(PKLR):c.1270-5T>G
|
|
|
|
NM_000301.5(PLG):c.185+14C>A
|
rs369616302
|
|
|
NM_000301.5(PLG):c.2302G>A (p.Glu768Lys)
|
|
|
|
NM_000302.4(PLOD1):c.1471-9_1471-8delinsGT
|
rs1553136318
|
|
|
NM_000302.4(PLOD1):c.1686G>A (p.Thr562=)
|
rs565216977
|
|
|
NM_000302.4(PLOD1):c.169-11T>C
|
rs760584840
|
|
|
NM_000303.3(PMM2):c.129G>A (p.Val43=)
|
rs777608895
|
|
|
NM_000303.3(PMM2):c.347+15A>C
|
rs751222355
|
|
|
NM_000303.3(PMM2):c.552T>C (p.Pro184=)
|
rs560182098
|
|
|
NM_000304.4(PMP22):c.79-16A>C
|
rs373417110
|
|
|
NM_000306.4(POU1F1):c.666-8C>G
|
rs182127067
|
|
|
NM_000307.5(POU3F4):c.359C>A (p.Pro120Gln)
|
|
|
|
NM_000308.4(CTSA):c.51_54delinsC (p.Leu19del)
|
rs886039898
|
|
|
NM_000308.4(CTSA):c.54G>C (p.Leu18=)
|
rs181943893
|
|
|
NM_000310.4(PPT1):c.234+8G>A
|
rs746750426
|
|
|
NM_000310.4(PPT1):c.690C>T (p.Phe230=)
|
rs1648754113
|
|
|
NM_000310.4(PPT1):c.705T>C (p.Ile235=)
|
rs1057515448
|
|
|
NM_000310.4(PPT1):c.894T>C (p.Tyr298=)
|
rs781759073
|
|
|
NM_000313.4(PROS1):c.119G>T (p.Arg40Leu)
|
rs7614835
|
|
|
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro)
|
rs121918472
|
|
|
NM_000313.4(PROS1):c.1644+4A>T
|
|
|
|
NM_000314.6(PTEN):c.-868G>C
|
rs587782133
|
|
|
NM_000314.8(PTEN):c.*10dup
|
rs756681683
|
|
|
NM_000314.8(PTEN):c.-312C>T
|
|
|
|
NM_000314.8(PTEN):c.-500GGC[7]
|
rs1237307954
|
|
|
NM_000314.8(PTEN):c.-735G>A
|
rs886047384
|
|
|
NM_000314.8(PTEN):c.-802G>A
|
rs876661166
|
|
|
NM_000314.8(PTEN):c.-838C>T
|
rs786201900
|
|
|
NM_000314.8(PTEN):c.1005A>G (p.Arg335=)
|
rs1303065649
|
|
|
NM_000314.8(PTEN):c.1027-4C>G
|
rs587782788
|
|
|
NM_000314.8(PTEN):c.1161A>G (p.Pro387=)
|
rs1057523975
|
|
|
NM_000314.8(PTEN):c.174T>C (p.Asp58=)
|
rs769719835
|
|
|
NM_000314.8(PTEN):c.209+3A>G
|
rs786202612
|
|
|
NM_000314.8(PTEN):c.210-7_210-3del
|
rs587780544
|
|
|
NM_000314.8(PTEN):c.228T>C (p.Tyr76=)
|
rs1554897866
|
|
|
NM_000314.8(PTEN):c.253+4_253+7del
|
rs876659695
|
|
|
NM_000314.8(PTEN):c.369C>T (p.His123=)
|
rs1085308045
|
|
|
NM_000314.8(PTEN):c.42G>A (p.Arg14=)
|
rs1064794513
|
|
|
NM_000314.8(PTEN):c.493-7C>T
|
rs1554900492
|
|
|
NM_000314.8(PTEN):c.759C>T (p.Ile253=)
|
rs752250585
|
|
|
NM_000314.8(PTEN):c.79+7A>T
|
rs374331677
|
|
|
NM_000314.8(PTEN):c.80-5C>T
|
rs1060503842
|
|
|
NM_000314.8(PTEN):c.801+9T>C
|
rs1060503839
|
|
|
NM_000314.8(PTEN):c.802-3T>A
|
rs587780712
|
|
|
NM_000316.3(PTH1R):c.1716C>T (p.Asp572=)
|
rs200062157
|
|
|
NM_000316.3(PTH1R):c.182G>A (p.Ser61Asn)
|
rs187585108
|
|
|
NM_000318.3(PEX2):c.825C>T (p.Asp275=)
|
rs367649632
|
|
|
NM_000320.3(QDPR):c.296-15G>T
|
rs776479029
|
|
|
NM_000320.3(QDPR):c.297T>C (p.Ser99=)
|
rs1309099253
|
|
|
NM_000321.3(RB1):c.1422-4T>G
|
rs201554179
|
|
|
NM_000321.3(RB1):c.452T>A (p.Leu151Gln)
|
rs2138087581
|
|
|
NM_000321.3(RB1):c.616T>C (p.Leu206=)
|
rs886050270
|
|
|
NM_000322.5(PRPH2):c.483C>G (p.Ile161Met)
|
rs76989855
|
|
|
NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly)
|
rs542296728
|
|
|
NM_000327.4(ROM1):c.213G>A (p.Ala71=)
|
rs886042979
|
|
|
NM_000330.4(RS1):c.185-3221G>A
|
rs374054249
|
|
|
NM_000334.4(SCN4A):c.1560G>C (p.Pro520=)
|
rs373819078
|
|
|
NM_000334.4(SCN4A):c.2593G>C (p.Gly865Arg)
|
rs752159625
|
|
|
NM_000334.4(SCN4A):c.3062G>A (p.Arg1021His)
|
rs770497876
|
|
|
NM_000334.4(SCN4A):c.483-5C>G
|
rs191547933
|
|
|
NM_000335.5(SCN5A):c.109A>G (p.Thr37Ala)
|
rs753953732
|
|
|
NM_000335.5(SCN5A):c.1141-3C>T
|
|
|
|
NM_000335.5(SCN5A):c.1272C>G (p.Ile424Met)
|
rs267599794
|
|
|
NM_000335.5(SCN5A):c.1372C>T (p.Arg458Cys)
|
rs752130196
|
|
|
NM_000335.5(SCN5A):c.1714_1715delinsTT (p.Ala572Phe)
|
rs730880211
|
|
|
NM_000335.5(SCN5A):c.1715C>T (p.Ala572Val)
|
rs36210423
|
|
|
NM_000335.5(SCN5A):c.1756_1761del (p.Ala586_Leu587del)
|
rs397517953
|
|
|
NM_000335.5(SCN5A):c.1762C>A (p.His588Asn)
|
rs748732150
|
|
|
NM_000335.5(SCN5A):c.1891-8G>C
|
rs12720064
|
|
|
NM_000335.5(SCN5A):c.1993G>T (p.Ala665Ser)
|
rs756474485
|
|
|
NM_000335.5(SCN5A):c.2103G>T (p.Pro701=)
|
|
|
|
NM_000335.5(SCN5A):c.2415G>A (p.Ser805=)
|
rs754312452
|
|
|
NM_000335.5(SCN5A):c.268C>A (p.Gln90Lys)
|
rs794728839
|
|
|
NM_000335.5(SCN5A):c.2788-15C>G
|
rs1057522116
|
|
|
NM_000335.5(SCN5A):c.3229-18C>T
|
rs535600394
|
|
|
NM_000335.5(SCN5A):c.3229-6C>T
|
rs1298844321
|
|
|
NM_000335.5(SCN5A):c.3267G>C (p.Pro1089=)
|
rs752999955
|
|
|
NM_000335.5(SCN5A):c.331T>C (p.Leu111=)
|
|
|
|
NM_000335.5(SCN5A):c.3388-10_3388-9del
|
rs2061494723
|
|
|
NM_000335.5(SCN5A):c.3540G>A (p.Val1180=)
|
rs1575749126
|
|
|
NM_000335.5(SCN5A):c.3904C>A (p.Arg1302=)
|
rs200334972
|
|
|
NM_000335.5(SCN5A):c.393-5C>T
|
rs368678204
|
|
|
NM_000335.5(SCN5A):c.4053C>T (p.Gly1351=)
|
rs587781165
|
|
|
NM_000335.5(SCN5A):c.4422A>G (p.Gln1474=)
|
rs2125835217
|
|
|
NM_000335.5(SCN5A):c.4810+4G>A
|
rs1011460663
|
|
|
NM_000335.5(SCN5A):c.483G>A (p.Glu161=)
|
rs2062306921
|
|
|
NM_000335.5(SCN5A):c.5313G>A (p.Leu1771=)
|
rs2061027209
|
|
|
NM_000335.5(SCN5A):c.5452_5454delinsAAC (p.Asp1818Asn)
|
rs2061022221
|
|
|
NM_000335.5(SCN5A):c.5648C>T (p.Pro1883Leu)
|
rs755162776
|
|
|
NM_000335.5(SCN5A):c.5796C>T (p.Gly1932=)
|
rs2061011853
|
|
|
NM_000335.5(SCN5A):c.5848G>A (p.Val1950Met)
|
rs41315493
|
|
|
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu)
|
rs41315493
|
|
|
NM_000335.5(SCN5A):c.5855G>A (p.Ser1952Asn)
|
rs781270220
|
|
|
NM_000335.5(SCN5A):c.5987A>G (p.His1996Arg)
|
|
|
|
NM_000335.5(SCN5A):c.6007T>G (p.Phe2003Val)
|
rs41311117
|
|
|
NM_000335.5(SCN5A):c.6008T>C (p.Phe2003Ser)
|
rs794728842
|
|
|
NM_000335.5(SCN5A):c.703+6A>G
|
rs781104838
|
|
|
NM_000335.5(SCN5A):c.704-14C>A
|
|
|
|
NM_000337.6(SGCD):c.383-11A>T
|
rs727504584
|
|
|
NM_000337.6(SGCD):c.516A>G (p.Thr172=)
|
rs753952200
|
|
|
NM_000340.2(SLC2A2):c.593C>T (p.Thr198Met)
|
rs149460434
|
|
|
NM_000341.4(SLC3A1):c.1200A>G (p.Pro400=)
|
rs886056069
|
|
|
NM_000342.4(SLC4A1):c.1337T>C (p.Val446Ala)
|
|
|
|
NM_000342.4(SLC4A1):c.1627-3C>T
|
|
|
|
NM_000342.4(SLC4A1):c.1742C>A (p.Thr581Asn)
|
|
|
|
NM_000342.4(SLC4A1):c.2344C>T (p.Arg782Cys)
|
rs148317876
|
|
|
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys)
|
rs538778224
|
|
|
NM_000342.4(SLC4A1):c.733G>A (p.Val245Met)
|
rs148170067
|
|
|
NM_000342.4(SLC4A1):c.82G>A (p.Glu28Lys)
|
|
|
|
NM_000348.4(SRD5A2):c.446-10_446-8del
|
rs758063160
|
|
|
NM_000349.3(STAR):c.120G>A (p.Leu40=)
|
rs138786388
|
|
|
NM_000350.3(ABCA4):c.1356+14dup
|
rs886046567
|
|
|
NM_000350.3(ABCA4):c.1460G>A (p.Arg487Gln)
|
rs145614671
|
|
|
NM_000350.3(ABCA4):c.3582C>A (p.Asp1194Glu)
|
rs886038285
|
|
|
NM_000350.3(ABCA4):c.3840_3845del (p.1279DS[1])
|
rs62642572
|
|
|
NM_000350.3(ABCA4):c.4540-5C>G
|
rs1476415689
|
|
|
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=)
|
rs138475920
|
|
|
NM_000350.3(ABCA4):c.468C>T (p.Ile156=)
|
rs148091207
|
|
|
NM_000350.3(ABCA4):c.5640T>A (p.Phe1880Leu)
|
rs374811709
|
|
|
NM_000350.3(ABCA4):c.5880C>T (p.Val1960=)
|
rs746250336
|
|
|
NM_000350.3(ABCA4):c.618C>T (p.Ser206=)
|
rs61748536
|
|
|
NM_000350.3(ABCA4):c.6498C>T (p.Ile2166=)
|
rs61751379
|
|
|
NM_000350.3(ABCA4):c.6693C>T (p.Ile2231=)
|
rs1801626
|
|
|
NM_000350.3(ABCA4):c.677G>A (p.Arg226His)
|
rs144310835
|
|
|
NM_000350.3(ABCA4):c.677G>T (p.Arg226Leu)
|
rs144310835
|
|
|
NM_000350.3(ABCA4):c.791G>A (p.Arg264His)
|
rs567985213
|
|
|
NM_000350.3(ABCA4):c.870G>A (p.Arg290=)
|
rs794727902
|
|
|
NM_000352.6(ABCC8):c.1672-20A>T
|
rs931436550
|
|
|
NM_000352.6(ABCC8):c.1818-7del
|
rs1955709311
|
|
|
NM_000352.6(ABCC8):c.2041-12C>T
|
rs201419039
|
|
|
NM_000352.6(ABCC8):c.2259A>G (p.Pro753=)
|
rs1955020359
|
|
|
NM_000352.6(ABCC8):c.2292-16G>A
|
|
|
|
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=)
|
rs371089976
|
|
|
NM_000352.6(ABCC8):c.3502T>C (p.Leu1168=)
|
rs565968675
|
|
|
NM_000352.6(ABCC8):c.3650+4C>G
|
rs374315114
|
|
|
NM_000352.6(ABCC8):c.3651-4C>G
|
rs1954058406
|
|
|
NM_000352.6(ABCC8):c.3988+19G>C
|
rs576340695
|
|
|
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile)
|
rs138642224
|
|
|
NM_000352.6(ABCC8):c.413-5G>A
|
rs186946111
|
|
|
NM_000352.6(ABCC8):c.4281C>T (p.Asp1427=)
|
rs1334003978
|
|
|
NM_000352.6(ABCC8):c.84G>A (p.Val28=)
|
|
|
|
NM_000353.3(TAT):c.558C>T (p.Tyr186=)
|
rs886052274
|
|
|
NM_000355.4(TCN2):c.1092G>A (p.Glu364=)
|
rs886057397
|
|
|
NM_000355.4(TCN2):c.581-8A>G
|
rs7290898
|
|
|
NM_000355.4(TCN2):c.810G>T (p.Ala270=)
|
rs61748898
|
|
|
NM_000358.3(TGFBI):c.1504A>G (p.Met502Val)
|
rs188677757
|
|
|
NM_000360.4(TH):c.1105-5C>G
|
rs535794692
|
|
|
NM_000360.4(TH):c.1119G>A (p.Thr373=)
|
rs143405115
|
|
|
NM_000360.4(TH):c.1170C>G (p.Ala390=)
|
rs199839852
|
|
|
NM_000360.4(TH):c.120C>T (p.Ser40=)
|
rs766048900
|
|
|
NM_000360.4(TH):c.1215G>A (p.Glu405=)
|
rs1590165298
|
|
|
NM_000360.4(TH):c.1227T>C (p.Ile409=)
|
rs546226132
|
|
|
NM_000360.4(TH):c.1287A>C (p.Ser429=)
|
rs1590165106
|
|
|
NM_000360.4(TH):c.12C>A (p.Pro4=)
|
rs147131010
|
|
|
NM_000360.4(TH):c.1442G>A (p.Gly481Asp)
|
rs564949885
|
|
|
NM_000360.4(TH):c.202C>T (p.Leu68=)
|
rs372393199
|
|
|
NM_000360.4(TH):c.342G>A (p.Glu114=)
|
rs886038763
|
|
|
NM_000360.4(TH):c.81G>T (p.Glu27Asp)
|
rs139742336
|
|
|
NM_000360.4(TH):c.951G>A (p.Ala317=)
|
rs1590167106
|
|
|
NM_000360.4(TH):c.978-6G>A
|
rs75487597
|
|
|
NM_000361.3(THBD):c.168G>A (p.Arg56=)
|
|
|
|
NM_000363.5(TNNI3):c.12-7del
|
rs370714315
|
|
|
NM_000363.5(TNNI3):c.157C>T (p.Leu53=)
|
rs763981651
|
|
|
NM_000368.5(TSC1):c.1113C>A (p.His371Gln)
|
rs771217333
|
|
|
NM_000368.5(TSC1):c.121C>A (p.Leu41Ile)
|
rs118203334
|
|
|
NM_000368.5(TSC1):c.1250C>A (p.Thr417Lys)
|
rs77464996
|
|
|
NM_000368.5(TSC1):c.1256C>A (p.Pro419His)
|
rs878853959
|
|
|
NM_000368.5(TSC1):c.1332A>C (p.Ser444=)
|
rs773003016
|
|
|
NM_000368.5(TSC1):c.1582_1602del (p.Gly528_Glu534del)
|
rs766376606
|
|
|
NM_000368.5(TSC1):c.1679G>A (p.Gly560Asp)
|
rs1395737285
|
|
|
NM_000368.5(TSC1):c.1720A>G (p.Thr574Ala)
|
rs1454859974
|
|
|
NM_000368.5(TSC1):c.1721C>T (p.Thr574Ile)
|
rs548002938
|
|
|
NM_000368.5(TSC1):c.1734C>T (p.Thr578=)
|
rs1251871091
|
|
|
NM_000368.5(TSC1):c.1751G>C (p.Ser584Thr)
|
rs786203799
|
|
|
NM_000368.5(TSC1):c.1802C>T (p.Pro601Leu)
|
rs543077026
|
|
|
NM_000368.5(TSC1):c.1874A>C (p.Glu625Ala)
|
rs886038287
|
|
|
NM_000368.5(TSC1):c.1916G>A (p.Gly639Asp)
|
rs372583166
|
|
|
NM_000368.5(TSC1):c.1934C>T (p.Pro645Leu)
|
rs1269162063
|
|
|
NM_000368.5(TSC1):c.2041+5del
|
rs1564479424
|
|
|
NM_000368.5(TSC1):c.2042-5A>T
|
rs118203627
|
|
|
NM_000368.5(TSC1):c.2103G>A (p.Gln701=)
|
rs118203639
|
|
|
NM_000368.5(TSC1):c.2375A>G (p.Gln792Arg)
|
rs796053460
|
|
|
NM_000368.5(TSC1):c.2432G>A (p.Arg811Gln)
|
rs761281095
|
|
|
NM_000368.5(TSC1):c.2459A>G (p.Lys820Arg)
|
rs1369700443
|
|
|
NM_000368.5(TSC1):c.2626-21_2626-19dup
|
rs5901000
|
|
|
NM_000368.5(TSC1):c.2635A>G (p.Met879Val)
|
rs778416424
|
|
|
NM_000368.5(TSC1):c.2683G>A (p.Val895Ile)
|
rs576476807
|
|
|
NM_000368.5(TSC1):c.2926A>G (p.Lys976Glu)
|
rs796053448
|
|
|
NM_000368.5(TSC1):c.3076G>A (p.Ala1026Thr)
|
rs533565295
|
|
|
NM_000368.5(TSC1):c.3086G>A (p.Ser1029Asn)
|
rs796053450
|
|
|
NM_000368.5(TSC1):c.3086G>T (p.Ser1029Ile)
|
rs796053450
|
|
|
NM_000368.5(TSC1):c.3107G>A (p.Gly1036Glu)
|
rs774196458
|
|
|
NM_000368.5(TSC1):c.3125G>A (p.Ser1042Asn)
|
rs148931779
|
|
|
NM_000368.5(TSC1):c.3133C>T (p.Leu1045Phe)
|
rs747162992
|
|
|
NM_000368.5(TSC1):c.3209C>T (p.Ala1070Val)
|
rs1060503200
|
|
|
NM_000368.5(TSC1):c.3274G>T (p.Ala1092Ser)
|
rs747053008
|
|
|
NM_000368.5(TSC1):c.3278G>A (p.Arg1093Gln)
|
rs550526986
|
|
|
NM_000368.5(TSC1):c.3305G>A (p.Ser1102Asn)
|
rs1263464680
|
|
|
NM_000368.5(TSC1):c.3413C>A (p.Pro1138His)
|
rs756449737
|
|
|
NM_000368.5(TSC1):c.3455A>G (p.His1152Arg)
|
rs1554812543
|
|
|
NM_000368.5(TSC1):c.348A>T (p.Leu116Phe)
|
rs755799702
|
|
|
NM_000368.5(TSC1):c.391A>G (p.Thr131Ala)
|
rs1564499857
|
|
|
NM_000368.5(TSC1):c.395G>C (p.Gly132Ala)
|
rs397514784
|
|
|
NM_000368.5(TSC1):c.445C>G (p.Gln149Glu)
|
rs118203384
|
|
|
NM_000368.5(TSC1):c.519G>A (p.Ala173=)
|
rs768999400
|
|
|
NM_000368.5(TSC1):c.556G>A (p.Ala186Thr)
|
rs1279777367
|
|
|
NM_000368.5(TSC1):c.792G>A (p.Leu264=)
|
rs1257538409
|
|
|
NM_000368.5(TSC1):c.898A>G (p.Thr300Ala)
|
rs796053456
|
|
|
NM_000368.5(TSC1):c.931C>A (p.Pro311Thr)
|
rs1332186256
|
|
|
NM_000368.5(TSC1):c.938C>T (p.Ser313Phe)
|
rs766317920
|
|
|
NM_000368.5(TSC1):c.954GTT[1] (p.Leu320del)
|
rs755655903
|
|
|
NM_000369.5(TSHR):c.2098A>G (p.Lys700Glu)
|
|
|
|
NM_000370.3(TTPA):c.36G>T (p.Pro12=)
|
rs773911591
|
|
|
NM_000371.4(TTR):c.*9TCC[1]
|
rs766223850
|
|
|
NM_000371.4(TTR):c.337-14_337-11del
|
rs112263266
|
|
|
NM_000372.5(TYR):c.1379T>C (p.Phe460Ser)
|
|
|
|
NM_000375.3(UROS):c.512T>C (p.Val171Ala)
|
rs17173752
|
|
|
NM_000377.3(WAS):c.1080A>C (p.Pro360=)
|
rs1409607754
|
|
|
NM_000381.4(MID1):c.1510T>C (p.Leu504=)
|
rs797045704
|
|
|
NM_000381.4(MID1):c.1841C>T (p.Ser614Phe)
|
|
|
|
NM_000382.3(ALDH3A2):c.153+8C>A
|
rs1410085369
|
|
|
NM_000383.4(AIRE):c.1095+23_1095+64del
|
rs1037154559
|
|
|
NM_000383.4(AIRE):c.1476C>A (p.Pro492=)
|
rs72650679
|
|
|
NM_000383.4(AIRE):c.799-17G>A
|
rs72650675
|
|
|
NM_000384.3(APOB):c.10740C>G (p.Asn3580Lys)
|
rs150312765
|
|
|
NM_000384.3(APOB):c.10811C>A (p.Ala3604Glu)
|
rs776815102
|
|
|
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln)
|
|
|
|
NM_000384.3(APOB):c.11401T>A (p.Ser3801Thr)
|
|
|
|
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)
|
|
|
|
NM_000384.3(APOB):c.11761G>A (p.Val3921Ile)
|
|
|
|
NM_000384.3(APOB):c.12005C>T (p.Ala4002Val)
|
rs369364335
|
|
|
NM_000384.3(APOB):c.1223T>C (p.Ile408Thr)
|
|
|
|
NM_000384.3(APOB):c.12309G>C (p.Lys4103Asn)
|
rs574791609
|
|
|
NM_000384.3(APOB):c.12382G>A (p.Val4128Met)
|
|
|
|
NM_000384.3(APOB):c.12697T>A (p.Ser4233Thr)
|
|
|
|
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
|
|
|
|
NM_000384.3(APOB):c.13451C>T (p.Thr4484Met)
|
|
|
|
NM_000384.3(APOB):c.13477CAG[1] (p.Gln4494del)
|
rs562574661
|
|
|
NM_000384.3(APOB):c.1568T>C (p.Ile523Thr)
|
rs781234577
|
|
|
NM_000384.3(APOB):c.1594C>T (p.Arg532Trp)
|
|
|
|
NM_000384.3(APOB):c.2188G>A (p.Val730Ile)
|
|
|
|
NM_000384.3(APOB):c.2222C>A (p.Thr741Asn)
|
|
|
|
NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])
|
|
|
|
NM_000384.3(APOB):c.293C>T (p.Thr98Ile)
|
|
|
|
NM_000384.3(APOB):c.2968G>A (p.Ala990Thr)
|
|
|
|
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)
|
|
|
|
NM_000384.3(APOB):c.307T>C (p.Tyr103His)
|
|
|
|
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
|
|
|
|
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser)
|
|
|
|
NM_000384.3(APOB):c.3595G>A (p.Asp1199Asn)
|
rs375894411
|
|
|
NM_000384.3(APOB):c.3634C>A (p.Leu1212Met)
|
|
|
|
NM_000384.3(APOB):c.4056_4064dup (p.Gly1354_Leu1356dup)
|
rs777844352
|
|
|
NM_000384.3(APOB):c.433C>T (p.Pro145Ser)
|
|
|
|
NM_000384.3(APOB):c.4676C>T (p.Ala1559Val)
|
rs549741449
|
|
|
NM_000384.3(APOB):c.4754A>T (p.Asn1585Ile)
|
rs549983245
|
|
|
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
|
|
|
|
NM_000384.3(APOB):c.5689C>T (p.Arg1897Cys)
|
rs189341276
|
|
|
NM_000384.3(APOB):c.6161T>G (p.Ile2054Ser)
|
rs538245770
|
|
|
NM_000384.3(APOB):c.649C>T (p.Pro217Ser)
|
rs573308525
|
|
|
NM_000384.3(APOB):c.656G>T (p.Arg219Leu)
|
rs201606169
|
|
|
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del)
|
rs541497967
|
|
|
NM_000384.3(APOB):c.6895G>C (p.Asp2299His)
|
|
|
|
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
|
|
|
|
NM_000384.3(APOB):c.7540G>A (p.Glu2514Lys)
|
rs1216733455
|
|
|
NM_000384.3(APOB):c.7619G>T (p.Gly2540Val)
|
rs571626569
|
|
|
NM_000384.3(APOB):c.7726C>T (p.Arg2576Cys)
|
rs767146440
|
|
|
NM_000384.3(APOB):c.8045G>T (p.Ser2682Ile)
|
rs375053331
|
|
|
NM_000384.3(APOB):c.8226G>T (p.Gln2742His)
|
rs376773500
|
|
|
NM_000384.3(APOB):c.9221A>G (p.Tyr3074Cys)
|
rs372902533
|
|
|
NM_000384.3(APOB):c.9242G>A (p.Ser3081Asn)
|
rs72653100
|
|
|
NM_000384.3(APOB):c.952C>A (p.Pro318Thr)
|
rs758678209
|
|
|
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
|
|
|
|
NM_000384.3(APOB):c.9880T>C (p.Ser3294Pro)
|
|
|
|
NM_000387.6(SLC25A20):c.105+7_105+10dup
|
rs775942451
|
|
|
NM_000387.6(SLC25A20):c.779_781del (p.Glu260del)
|
rs754871147
|
|
|
NM_000388.4(CASR):c.2901C>A (p.Ile967=)
|
rs199594582
|
|
|
NM_000391.3(TPP1):c.-33C>G
|
rs757508432
|
|
|
NM_000391.4(TPP1):c.*1216dup
|
rs575737269
|
|
|
NM_000391.4(TPP1):c.244C>T (p.Leu82=)
|
rs794727623
|
|
|
NM_000391.4(TPP1):c.687+20C>T
|
rs569432039
|
|
|
NM_000391.4(TPP1):c.887-6_887-5del
|
rs886048541
|
|
|
NM_000391.4(TPP1):c.887-6del
|
rs35039601
|
|
|
NM_000392.5(ABCC2):c.1434G>A (p.Ala478=)
|
rs4267009
|
|
|
NM_000392.5(ABCC2):c.1446C>T (p.Thr482=)
|
rs113646094
|
|
|
NM_000392.5(ABCC2):c.2034C>T (p.Ser678=)
|
rs1554850241
|
|
|
NM_000392.5(ABCC2):c.2620+10_2620+12del
|
rs764566414
|
|
|
NM_000392.5(ABCC2):c.2700C>T (p.Ser900=)
|
rs1184984382
|
|
|
NM_000392.5(ABCC2):c.2955G>A (p.Ala985=)
|
rs139082536
|
|
|
NM_000392.5(ABCC2):c.3057G>A (p.Gln1019=)
|
rs144521346
|
|
|
NM_000392.5(ABCC2):c.3498C>T (p.Thr1166=)
|
rs564908429
|
|
|
NM_000392.5(ABCC2):c.3525C>G (p.Ala1175=)
|
rs1554853606
|
|
|
NM_000392.5(ABCC2):c.417G>T (p.Ser139=)
|
rs145350474
|
|
|
NM_000392.5(ABCC2):c.4449C>T (p.Phe1483=)
|
rs756299268
|
|
|
NM_000392.5(ABCC2):c.601C>T (p.Leu201=)
|
rs749655460
|
|
|
NM_000392.5(ABCC2):c.636C>A (p.Ile212=)
|
rs1564673185
|
|
|
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val)
|
rs138967272
|
|
|
NM_000400.4(ERCC2):c.2189G>A (p.Arg730Gln)
|
rs759412116
|
|
|
NM_000400.4(ERCC2):c.2191-11G>A
|
rs1568530396
|
|
|
NM_000400.4(ERCC2):c.718+8G>A
|
|
|
|
NM_000412.5(HRG):c.99del (p.Ala34fs)
|
rs563237107
|
|
|
NM_000414.4(HSD17B4):c.1768-6_1768-4del
|
rs755128532
|
|
|
NM_000414.4(HSD17B4):c.1901G>A (p.Arg634His)
|
|
|
|
NM_000416.3(IFNGR1):c.85+5C>T
|
rs371150014
|
|
|
NM_000417.3(IL2RA):c.257-11A>G
|
rs929482812
|
|
|
NM_000417.3(IL2RA):c.777C>A (p.Leu259=)
|
rs554680869
|
|
|
NM_000419.5(ITGA2B):c.1014G>A (p.Leu338=)
|
rs886053007
|
|
|
NM_000419.5(ITGA2B):c.188+8del
|
rs560275529
|
|
|
NM_000419.5(ITGA2B):c.2946G>A (p.Val982=)
|
|
|
|
NM_000421.5(KRT10):c.1428AAGCTCCGGCGGCGG[3] (p.477SSGGG[3])
|
rs753095095
|
|
|
NM_000421.5(KRT10):c.1506AAGCTCCGGCGGCGG[3] (p.Gly512_Tyr513insSerSerGlyGlyGly)
|
|
|
|
NM_000421.5(KRT10):c.1528_1554dup (p.Ser518_Ser519insGlyGlyGlyTyrGlyGlyGlySerSer)
|
|
|
|
NM_000421.5(KRT10):c.1654AGCTCCGGCGGCGGATACGGCGGCGGCAGC[4] (p.556GYGGGSSSGG[4])
|
rs776920005
|
|
|
NM_000422.3(KRT17):c.672+5G>A
|
|
|
|
NM_000426.4(LAMA2):c.4222C>G (p.Arg1408Gly)
|
rs780127363
|
|
|
NM_000426.4(LAMA2):c.5074G>C (p.Val1692Leu)
|
rs567613582
|
|
|
NM_000426.4(LAMA2):c.5530C>T (p.Arg1844Cys)
|
rs56173620
|
|
|
NM_000426.4(LAMA2):c.9340G>A (p.Val3114Ile)
|
rs200796753
|
|
|
NM_000432.4(MYL2):c.308T>G (p.Phe103Cys)
|
rs547860537
|
|
|
NM_000432.4(MYL2):c.402+8G>T
|
rs886048959
|
|
|
NM_000433.4(NCF2):c.1291-15C>G
|
rs886045654
|
|
|
NM_000435.3(NOTCH3):c.1121G>A (p.Arg374Gln)
|
|
|
|
NM_000435.3(NOTCH3):c.118+19G>T
|
|
|
|
NM_000435.3(NOTCH3):c.120C>T (p.Ala40=)
|
rs146904189
|
|
|
NM_000435.3(NOTCH3):c.1749G>A (p.Val583=)
|
|
|
|
NM_000435.3(NOTCH3):c.197+8C>T
|
|
|
|
NM_000435.3(NOTCH3):c.2926G>A (p.Val976Ile)
|
rs771899820
|
|
|
NM_000435.3(NOTCH3):c.3148C>T (p.Arg1050Trp)
|
|
|
|
NM_000435.3(NOTCH3):c.391G>A (p.Gly131Ser)
|
rs767150916
|
|
|
NM_000435.3(NOTCH3):c.4627C>A (p.Leu1543Met)
|
rs111838442
|
|
|
NM_000435.3(NOTCH3):c.506G>A (p.Arg169His)
|
|
|
|
NM_000435.3(NOTCH3):c.5942G>A (p.Arg1981His)
|
|
|
|
NM_000435.3(NOTCH3):c.6233G>A (p.Arg2078Gln)
|
|
|
|
NM_000435.3(NOTCH3):c.6850A>T (p.Thr2284Ser)
|
rs1177268940
|
|
|
NM_000439.5(PCSK1):c.-96C>T
|
rs35753085
|
|
|
NM_000439.5(PCSK1):c.413C>T (p.Thr138Met)
|
|
|
|
NM_000441.2(SLC26A4):c.1572C>T (p.Ile524=)
|
rs1562837305
|
|
|
NM_000441.2(SLC26A4):c.2320-4A>G
|
rs727503432
|
|
|
NM_000441.2(SLC26A4):c.486C>T (p.Leu162=)
|
rs370020280
|
|
|
NM_000441.2(SLC26A4):c.732C>G (p.Thr244=)
|
rs2129311968
|
|
|
NM_000443.4(ABCB4):c.102G>T (p.Thr34=)
|
rs1277340029
|
|
|
NM_000443.4(ABCB4):c.1413C>T (p.Ile471=)
|
rs771303478
|
|
|
NM_000443.4(ABCB4):c.207A>G (p.Ser69=)
|
rs914166042
|
|
|
NM_000443.4(ABCB4):c.2325G>A (p.Thr775=)
|
rs8187802
|
|
|
NM_000443.4(ABCB4):c.303G>A (p.Ser101=)
|
rs886044650
|
|
|
NM_000443.4(ABCB4):c.3172G>A (p.Glu1058Lys)
|
|
|
|
NM_000443.4(ABCB4):c.3244C>T (p.Leu1082=)
|
rs1562950567
|
|
|
NM_000443.4(ABCB4):c.3471C>T (p.Ile1157=)
|
rs752578370
|
|
|
NM_000443.4(ABCB4):c.3816C>T (p.Val1272=)
|
rs1029350022
|
|
|
NM_000451.4(SHOX):c.486+8C>G
|
rs374705909
|
|
|
NM_000451.4(SHOX):c.85AAG[1] (p.Lys30del)
|
rs776789883
|
|
|
NM_000452.3(SLC10A2):c.269T>C (p.Phe90Ser)
|
rs199894506
|
|
|
NM_000452.3(SLC10A2):c.39T>C (p.Val13=)
|
rs201994393
|
|
|
NM_000452.3(SLC10A2):c.39T>G (p.Val13=)
|
rs201994393
|
|
|
NM_000452.3(SLC10A2):c.495A>T (p.Ile165=)
|
|
|
|
NM_000452.3(SLC10A2):c.497-13_497-4del
|
|
|
|
NM_000455.5(STK11):c.1002C>T (p.Ser334=)
|
rs1057521267
|
|
|
NM_000455.5(STK11):c.1041G>A (p.Ala347=)
|
rs537906142
|
|
|
NM_000455.5(STK11):c.1045GAGGAC[1] (p.349ED[1])
|
rs762810203
|
|
|
NM_000455.5(STK11):c.1063G>A (p.Asp355Asn)
|
rs769403473
|
|
|
NM_000455.5(STK11):c.1068C>G (p.Ile356Met)
|
rs187744790
|
|
|
NM_000455.5(STK11):c.1109-4C>A
|
rs1407794756
|
|
|
NM_000455.5(STK11):c.1129G>C (p.Ala377Pro)
|
rs768870802
|
|
|
NM_000455.5(STK11):c.120C>T (p.Arg40=)
|
rs878853984
|
|
|
NM_000455.5(STK11):c.1225C>G (p.Arg409Gly)
|
rs368466538
|
|
|
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp)
|
rs368466538
|
|
|
NM_000455.5(STK11):c.1230C>T (p.Ala410=)
|
rs864622171
|
|
|
NM_000455.5(STK11):c.1236C>T (p.Asn412=)
|
rs1158714606
|
|
|
NM_000455.5(STK11):c.1244G>A (p.Arg415His)
|
rs775978755
|
|
|
NM_000455.5(STK11):c.1261_1262inv (p.Ser421Leu)
|
|
|
|
NM_000455.5(STK11):c.1276C>G (p.Arg426Gly)
|
rs587782687
|
|
|
NM_000455.5(STK11):c.1283C>G (p.Ser428Trp)
|
rs587781537
|
|
|
NM_000455.5(STK11):c.163C>T (p.Leu55=)
|
rs1057520869
|
|
|
NM_000455.5(STK11):c.189G>A (p.Val63=)
|
rs1342321548
|
|
|
NM_000455.5(STK11):c.248A>G (p.Lys83Arg)
|
rs374006397
|
|
|
NM_000455.5(STK11):c.318G>T (p.Arg106=)
|
rs777784520
|
|
|
NM_000455.5(STK11):c.345T>C (p.Asp115=)
|
rs2145420737
|
|
|
NM_000455.5(STK11):c.375-5C>T
|
rs1057517626
|
|
|
NM_000455.5(STK11):c.397G>A (p.Val133Met)
|
rs567769257
|
|
|
NM_000455.5(STK11):c.399G>A (p.Val133=)
|
rs757021648
|
|
|
NM_000455.5(STK11):c.440G>A (p.Arg147His)
|
rs587780717
|
|
|
NM_000455.5(STK11):c.464+14G>A
|
rs587782421
|
|
|
NM_000455.5(STK11):c.464+15C>T
|
rs1057521355
|
|
|
NM_000455.5(STK11):c.464+3G>A
|
rs1060499956
|
|
|
NM_000455.5(STK11):c.464G>A (p.Gly155Glu)
|
rs1555737830
|
|
|
NM_000455.5(STK11):c.465-4G>A
|
rs587780009
|
|
|
NM_000455.5(STK11):c.489C>T (p.Gly163=)
|
rs1060499959
|
|
|
NM_000455.5(STK11):c.564C>T (p.Gly188=)
|
rs786201344
|
|
|
NM_000455.5(STK11):c.579C>A (p.Ser193=)
|
rs730881961
|
|
|
NM_000455.5(STK11):c.598-11C>T
|
rs587782431
|
|
|
NM_000455.5(STK11):c.617C>T (p.Ala206Val)
|
rs764244639
|
|
|
NM_000455.5(STK11):c.618G>C (p.Ala206=)
|
rs370976710
|
|
|
NM_000455.5(STK11):c.693C>T (p.Phe231=)
|
rs1568708275
|
|
|
NM_000455.5(STK11):c.69C>T (p.Asp23=)
|
rs1599914867
|
|
|
NM_000455.5(STK11):c.735-16_735-15del
|
rs775965325
|
|
|
NM_000455.5(STK11):c.735-6_735-2del
|
rs759090799
|
|
|
NM_000455.5(STK11):c.840C>T (p.Pro280=)
|
rs1471868090
|
|
|
NM_000455.5(STK11):c.842C>A (p.Pro281Gln)
|
rs121913322
|
|
|
NM_000455.5(STK11):c.863-14C>G
|
rs756001994
|
|
|
NM_000455.5(STK11):c.863-3C>T
|
rs1599928254
|
|
|
NM_000455.5(STK11):c.863-5C>T
|
rs1599928248
|
|
|
NM_000455.5(STK11):c.863-5_863-3del
|
rs764739106
|
|
|
NM_000455.5(STK11):c.864G>A (p.Gly288=)
|
rs2080787350
|
|
|
NM_000455.5(STK11):c.894C>G (p.Phe298Leu)
|
rs199681533
|
|
|
NM_000455.5(STK11):c.920+7G>A
|
rs2075607
|
|
|
NM_000455.5(STK11):c.920+7_920+8delinsCA
|
rs1057517545
|
|
|
NM_000455.5(STK11):c.940C>T (p.Pro314Ser)
|
rs758416485
|
|
|
NM_000455.5(STK11):c.942T>C (p.Pro314=)
|
rs1256260277
|
|
|
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)
|
|
|
|
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser)
|
|
|
|
NM_000458.4(HNF1B):c.1207-7C>T
|
rs1215174368
|
|
|
NM_000458.4(HNF1B):c.1338A>G (p.Gln446=)
|
rs776536485
|
|
|
NM_000458.4(HNF1B):c.1389C>T (p.Ala463=)
|
rs761684626
|
|
|
NM_000458.4(HNF1B):c.1488C>T (p.Ala496=)
|
rs773569563
|
|
|
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
|
|
|
|
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
|
|
|
|
NM_000458.4(HNF1B):c.345-4C>T
|
rs200590728
|
|
|
NM_000458.4(HNF1B):c.657C>G (p.Ser219=)
|
rs148713761
|
|
|
NM_000465.4(BARD1):c.*135_*138dup
|
rs113789798
|
|
|
NM_000465.4(BARD1):c.1016G>C (p.Ser339Thr)
|
rs201261729
|
|
|
NM_000465.4(BARD1):c.1040T>C (p.Phe347Ser)
|
rs1559424172
|
|
|
NM_000465.4(BARD1):c.1053_1054delinsCA (p.Val352Met)
|
rs1553622282
|
|
|
NM_000465.4(BARD1):c.1070T>C (p.Ile357Thr)
|
rs587781555
|
|
|
NM_000465.4(BARD1):c.1136A>G (p.Lys379Arg)
|
rs750827325
|
|
|
NM_000465.4(BARD1):c.1147A>T (p.Met383Leu)
|
rs761516178
|
|
|
NM_000465.4(BARD1):c.1216C>G (p.Arg406Gly)
|
rs377153250
|
|
|
NM_000465.4(BARD1):c.1461G>T (p.Val487=)
|
rs1694272372
|
|
|
NM_000465.4(BARD1):c.1518_1519delinsCT (p.Val507Leu)
|
rs386654966
|
|
|
NM_000465.4(BARD1):c.1598A>T (p.Tyr533Phe)
|
rs761673463
|
|
|
NM_000465.4(BARD1):c.1644G>A (p.Lys548=)
|
rs1064796411
|
|
|
NM_000465.4(BARD1):c.1822G>A (p.Val608Ile)
|
rs778987552
|
|
|
NM_000465.4(BARD1):c.1989C>T (p.Asn663=)
|
rs587782767
|
|
|
NM_000465.4(BARD1):c.20C>G (p.Pro7Arg)
|
rs1696475875
|
|
|
NM_000465.4(BARD1):c.2104A>G (p.Ile702Val)
|
rs587782415
|
|
|
NM_000465.4(BARD1):c.215+13G>A
|
rs886055601
|
|
|
NM_000465.4(BARD1):c.215+9T>G
|
rs1559441723
|
|
|
NM_000465.4(BARD1):c.216-14T>C
|
rs775103922
|
|
|
NM_000465.4(BARD1):c.2191C>T (p.Arg731Cys)
|
rs76744638
|
|
|
NM_000465.4(BARD1):c.2192G>A (p.Arg731His)
|
rs587782248
|
|
|
NM_000465.4(BARD1):c.45C>A (p.Arg15=)
|
rs786201402
|
|
|
NM_000465.4(BARD1):c.521G>A (p.Ser174Asn)
|
rs1277839212
|
|
|
NM_000465.4(BARD1):c.59C>T (p.Pro20Leu)
|
rs753686197
|
|
|
NM_000465.4(BARD1):c.607G>A (p.Gly203Arg)
|
rs730881415
|
|
|
NM_000465.4(BARD1):c.676G>C (p.Asp226His)
|
rs876659965
|
|
|
NM_000465.4(BARD1):c.860A>T (p.Glu287Val)
|
rs1197692311
|
|
|
NM_000465.4(BARD1):c.86A>C (p.Asp29Ala)
|
rs777491507
|
|
|
NM_000465.4(BARD1):c.903G>A (p.Glu301=)
|
rs1694982551
|
|
|
NM_000465.4(BARD1):c.93C>G (p.Arg31=)
|
rs778803692
|
|
|
NM_000466.3(PEX1):c.1077G>T (p.Lys359Asn)
|
rs138905930
|
|
|
NM_000466.3(PEX1):c.129+10C>T
|
rs886062508
|
|
|
NM_000466.3(PEX1):c.129+8G>A
|
rs1793393956
|
|
|
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp)
|
rs565049190
|
|
|
NM_000466.3(PEX1):c.1804-12A>G
|
rs143041528
|
|
|
NM_000466.3(PEX1):c.1901-14T>C
|
rs1792111444
|
|
|
NM_000466.3(PEX1):c.2784-7T>C
|
rs777893142
|
|
|
NM_000466.3(PEX1):c.2941G>A (p.Ala981Thr)
|
rs566068815
|
|
|
NM_000466.3(PEX1):c.3108A>G (p.Ala1036=)
|
rs1030151030
|
|
|
NM_000466.3(PEX1):c.3627C>T (p.Ser1209=)
|
rs886062501
|
|
|
NM_000466.3(PEX1):c.363G>A (p.Leu121=)
|
rs200866361
|
|
|
NM_000466.3(PEX1):c.453G>A (p.Thr151=)
|
rs368714078
|
|
|
NM_000466.3(PEX1):c.468A>G (p.Gln156=)
|
rs149729088
|
|
|
NM_000466.3(PEX1):c.898G>T (p.Ala300Ser)
|
rs751506204
|
|
|
NM_000466.3(PEX1):c.96G>A (p.Pro32=)
|
rs1445565547
|
|
|
NM_000474.4(TWIST1):c.245GCG[6] (p.Gly86dup)
|
rs754552080
|
|
|
NM_000475.5(NR0B1):c.1033C>A (p.Pro345Thr)
|
|
|
|
NM_000475.5(NR0B1):c.1219A>G (p.Thr407Ala)
|
|
|
|
NM_000478.6(ALPL):c.1419C>T (p.Gly473=)
|
rs373417343
|
|
|
NM_000478.6(ALPL):c.1503C>T (p.Ser501=)
|
rs1644757548
|
|
|
NM_000478.6(ALPL):c.1557C>A (p.Pro519=)
|
rs376020180
|
|
|
NM_000478.6(ALPL):c.297+6C>T
|
|
|
|
NM_000478.6(ALPL):c.793-10T>C
|
rs1114167436
|
|
|
NM_000478.6(ALPL):c.862+6T>C
|
rs956701286
|
|
|
NM_000478.6(ALPL):c.921G>A (p.Pro307=)
|
rs1553414111
|
|
|
NM_000481.4(AMT):c.1112G>A (p.Arg371His)
|
rs147006017
|
|
|
NM_000481.4(AMT):c.148G>T (p.Val50Leu)
|
rs148917929
|
|
|
NM_000484.4(APP):c.819CAC[8] (p.Thr280dup)
|
rs527890624
|
|
|
NM_000487.6(ARSA):c.1210+13C>T
|
rs6151426
|
|
|
NM_000487.6(ARSA):c.1211-10C>T
|
rs398123413
|
|
|
NM_000487.6(ARSA):c.1493G>T (p.Arg498Leu)
|
rs6151428
|
|
|
NM_000487.6(ARSA):c.276C>T (p.Gly92=)
|
rs978006787
|
|
|
NM_000489.6(ATRX):c.1446A>G (p.Glu482=)
|
rs886044778
|
|
|
NM_000489.6(ATRX):c.1509A>G (p.Gln503=)
|
rs1039587651
|
|
|
NM_000489.6(ATRX):c.1842C>T (p.Gly614=)
|
rs2071364653
|
|
|
NM_000489.6(ATRX):c.2241TTC[2] (p.Ser750del)
|
rs1297294136
|
|
|
NM_000489.6(ATRX):c.2592G>T (p.Gly864=)
|
rs782526944
|
|
|
NM_000489.6(ATRX):c.3196A>G (p.Lys1066Glu)
|
|
|
|
NM_000489.6(ATRX):c.39A>G (p.Thr13=)
|
rs1244422748
|
|
|
NM_000489.6(ATRX):c.4035G>A (p.Leu1345=)
|
rs111725949
|
|
|
NM_000490.5(AVP):c.475G>A (p.Ala159Thr)
|
|
|
|
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser)
|
rs1800086
|
|
|
NM_000492.4(CFTR):c.1077A>G (p.Gln359=)
|
rs761324191
|
|
|
NM_000492.4(CFTR):c.1209+18A>C
|
rs193922499
|
|
|
NM_000492.4(CFTR):c.1209+80G>A
|
rs948980243
|
|
|
NM_000492.4(CFTR):c.1210-12_1210-11insGTG
|
rs4148705
|
|
|
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys)
|
rs4727853
|
|
|
NM_000492.4(CFTR):c.1254T>C (p.Asn418=)
|
rs62469440
|
|
|
NM_000492.4(CFTR):c.1265C>T (p.Ser422Phe)
|
rs201880593
|
|
|
NM_000492.4(CFTR):c.1278C>T (p.Asp426=)
|
rs2896225
|
|
|
NM_000492.4(CFTR):c.1311T>C (p.Gly437=)
|
rs1562895049
|
|
|
NM_000492.4(CFTR):c.1317T>G (p.Pro439=)
|
rs1562895052
|
|
|
NM_000492.4(CFTR):c.1357TTG[1] (p.Leu454del)
|
rs397508194
|
|
|
NM_000492.4(CFTR):c.1365G>T (p.Ala455=)
|
rs79074685
|
|
|
NM_000492.4(CFTR):c.1446T>A (p.Ile482=)
|
rs914422460
|
|
|
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile)
|
rs77646904
|
|
|
NM_000492.4(CFTR):c.1602A>G (p.Ala534=)
|
rs1584810152
|
|
|
NM_000492.4(CFTR):c.164+9A>T
|
rs397508245
|
|
|
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile)
|
rs1800097
|
|
|
NM_000492.4(CFTR):c.1730A>T (p.Tyr577Phe)
|
rs397508286
|
|
|
NM_000492.4(CFTR):c.2001C>T (p.His667=)
|
rs772786141
|
|
|
NM_000492.4(CFTR):c.2026C>G (p.Pro676Ala)
|
rs762888022
|
|
|
NM_000492.4(CFTR):c.2077T>C (p.Phe693Leu)
|
rs397508338
|
|
|
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)
|
rs1800076
|
|
|
NM_000492.4(CFTR):c.2490+7A>G
|
rs751864459
|
|
|
NM_000492.4(CFTR):c.2562_2563delinsGA (p.Val855Ile)
|
rs1584813846
|
|
|
NM_000492.4(CFTR):c.2587C>T (p.Leu863=)
|
|
|
|
NM_000492.4(CFTR):c.2620-12G>T
|
|
|
|
NM_000492.4(CFTR):c.2620-22A>G
|
|
|
|
NM_000492.4(CFTR):c.2657+17C>T
|
rs368543375
|
|
|
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn)
|
rs201864483
|
|
|
NM_000492.4(CFTR):c.273+8T>A
|
rs1189108407
|
|
|
NM_000492.4(CFTR):c.2907A>C (p.Ala969=)
|
rs377502207
|
|
|
NM_000492.4(CFTR):c.2907A>G (p.Ala969=)
|
|
|
|
NM_000492.4(CFTR):c.3368-4A>G
|
rs748811222
|
|
|
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu)
|
rs1800120
|
|
|
NM_000492.4(CFTR):c.3672T>A (p.Asn1224Lys)
|
rs371475225
|
|
|
NM_000492.4(CFTR):c.3717+14A>G
|
|
|
|
NM_000492.4(CFTR):c.379T>C (p.Leu127=)
|
rs2116670348
|
|
|
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val)
|
rs397508617
|
|
|
NM_000492.4(CFTR):c.3873+28dup
|
|
|
|
NM_000492.4(CFTR):c.3874-27TTC[2]
|
rs397508623
|
|
|
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)
|
rs113857788
|
|
|
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His)
|
rs113857788
|
|
|
NM_000492.4(CFTR):c.4243-16A>G
|
rs780125251
|
|
|
NM_000492.4(CFTR):c.4243-7del
|
rs878854021
|
|
|
NM_000492.4(CFTR):c.4327C>T (p.Pro1443Ser)
|
rs1336644939
|
|
|
NM_000492.4(CFTR):c.489+8T>C
|
rs727504712
|
|
|
NM_000492.4(CFTR):c.53+9G>T
|
rs745414764
|
|
|
NM_000492.4(CFTR):c.547C>A (p.Leu183Ile)
|
rs397508751
|
|
|
NM_000492.4(CFTR):c.579+8C>A
|
|
|
|
NM_000492.4(CFTR):c.744-34_744-31del
|
rs768226435
|
|
|
NM_000492.4(CFTR):c.870-7_870-5del
|
rs759762840
|
|
|
NM_000492.4(CFTR):c.927C>T (p.Ala309=)
|
rs1800084
|
|
|
NM_000492.4(CFTR):c.960A>G (p.Leu320=)
|
rs56093012
|
|
|
NM_000493.4(COL10A1):c.1300_1322del (p.Gly434fs)
|
rs753599581
|
|
|
NM_000493.4(COL10A1):c.720G>A (p.Pro240=)
|
rs112875740
|
|
|
NM_000494.4(COL17A1):c.1339G>T (p.Gly447Cys)
|
rs200223042
|
|
|
NM_000494.4(COL17A1):c.4156+6T>A
|
|
|
|
NM_000497.4(CYP11B1):c.240-18_240-17delinsAA
|
rs1586561494
|
|
|
NM_000498.3(CYP11B2):c.1035G>C (p.Leu345=)
|
rs780878883
|
|
|
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu)
|
rs184649564
|
|
|
NM_000501.4(ELN):c.1415-9A>G
|
rs727503032
|
|
|
NM_000501.4(ELN):c.1819G>C (p.Gly607Arg)
|
rs781963804
|
|
|
NM_000501.4(ELN):c.328G>A (p.Ala110Thr)
|
rs137953195
|
|
|
NM_000501.4(ELN):c.483C>A (p.Pro161=)
|
rs150690195
|
|
|
NM_000503.6(EYA1):c.647C>G (p.Pro216Arg)
|
rs200923204
|
|
|
NM_000505.4(F12):c.1025C>T (p.Pro342Leu)
|
rs2230939
|
|
|
NM_000506.5(F2):c.45G>A (p.Leu15=)
|
rs886048333
|
|
|
NM_000507.4(FBP1):c.826-15G>T
|
rs148942437
|
|
|
NM_000507.4(FBP1):c.826-7T>C
|
rs1827646865
|
|
|
NM_000507.4(FBP1):c.835C>T (p.Leu279=)
|
rs760291471
|
|
|
NM_000512.5(GALNS):c.1140-15C>T
|
rs1910644710
|
|
|
NM_000512.5(GALNS):c.1410G>A (p.Ser470=)
|
rs763263800
|
|
|
NM_000512.5(GALNS):c.177G>A (p.Leu59=)
|
|
|
|
NM_000515.5(GH1):c.16C>A (p.Arg6=)
|
rs140576665
|
|
|
NM_000515.5(GH1):c.363T>C (p.Ser121=)
|
rs137882374
|
|
|
NM_000515.5(GH1):c.7A>C (p.Thr3Pro)
|
rs2001345
|
|
|
NM_000516.7(GNAS):c.-18_-16GCC[9]
|
rs745433225
|
|
|
NM_000516.7(GNAS):c.138G>A (p.Leu46=)
|
rs760146185
|
|
|
NM_000516.7(GNAS):c.213-5A>G
|
rs763548893
|
|
|
NM_000516.7(GNAS):c.531-13_531-10del
|
rs576071932
|
|
|
NM_000516.7(GNAS):c.717C>T (p.Asn239=)
|
|
|
|
NM_000517.4(HBA2):c.49A>G (p.Lys17Glu)
|
rs281865555
|
|
|
NM_000517.5(HBA2):c.-41C>G
|
rs1188584832
|
|
|
NM_000517.6(HBA2):c.215C>A (p.Ala72Glu)
|
rs281864853
|
|
|
NM_000517.6(HBA2):c.257A>T (p.Asp86Val)
|
rs41331747
|
|
|
NM_000517.6(HBA2):c.273G>T (p.Lys91Asn)
|
|
|
|
NM_000517.6(HBA2):c.300+8G>A
|
|
|
|
NM_000517.6(HBA2):c.344C>T (p.Pro115Leu)
|
rs267607269
|
|
|
NM_000517.6(HBA2):c.349G>A (p.Glu117Lys)
|
rs33987053
|
|
|
NM_000517.6(HBA2):c.38C>A (p.Ala13Asp)
|
rs281864809
|
|
|
NM_000517.6(HBA2):c.40G>C (p.Ala14Pro)
|
rs281860609
|
|
|
NM_000517.6(HBA2):c.45G>C (p.Trp15Cys)
|
rs63750367
|
|
|
NM_000517.6(HBA2):c.55G>C (p.Gly19Arg)
|
rs63750294
|
|
|
NM_000518.4(HBB):c.-92C>G
|
rs397515291
|
|
|
NM_000518.4(HBB):c.142G>A (p.Asp48Asn)
|
rs33932070
|
|
|
NM_000518.4(HBB):c.157G>A (p.Asp53Asn)
|
rs33961886
|
|
|
NM_000518.4(HBB):c.232C>G (p.His78Asp)
|
rs33991294
|
|
|
NM_000518.4(HBB):c.263C>A (p.Thr88Lys)
|
rs33993568
|
|
|
NM_000518.4(HBB):c.29C>G (p.Ser10Cys)
|
rs33918131
|
|
|
NM_000518.4(HBB):c.67G>C (p.Glu23Gln)
|
rs33959855
|
|
|
NM_000518.4(HBB):c.68A>G (p.Glu23Gly)
|
rs33936254
|
|
|
NM_000518.4(HBB):c.8A>G (p.His3Arg)
|
rs33983205
|
|
|
NM_000518.5(HBB):c.*56A>G
|
rs537944366
|
|
|
NM_000518.5(HBB):c.10C>G (p.Leu4Val)
|
rs34126315
|
|
|
NM_000518.5(HBB):c.186G>C (p.Lys62Asn)
|
rs34446260
|
|
|
NM_000518.5(HBB):c.24G>A (p.Glu8=)
|
|
|
|
NM_000518.5(HBB):c.251G>A (p.Gly84Asp)
|
rs1803195
|
|
|
NM_000518.5(HBB):c.255C>A (p.Thr85=)
|
rs1334966870
|
|
|
NM_000518.5(HBB):c.315+9A>G
|
rs1277597344
|
|
|
NM_000518.5(HBB):c.316-100T>A
|
rs1847534694
|
|
|
NM_000518.5(HBB):c.316-109C>T
|
rs1554917650
|
|
|
NM_000518.5(HBB):c.316-114C>T
|
rs1003790835
|
|
|
NM_000518.5(HBB):c.316-128G>C
|
rs1291160651
|
|
|
NM_000518.5(HBB):c.316-141G>A
|
rs1011427406
|
|
|
NM_000518.5(HBB):c.316-148G>C
|
rs1847536038
|
|
|
NM_000518.5(HBB):c.316-179A>T
|
|
|
|
NM_000518.5(HBB):c.316-198G>A
|
rs547258651
|
|
|
NM_000518.5(HBB):c.316-210T>A
|
rs1847537565
|
|
|
NM_000518.5(HBB):c.316-27T>G
|
rs1280140490
|
|
|
NM_000518.5(HBB):c.316-28G>C
|
rs771736852
|
|
|
NM_000518.5(HBB):c.316-336del
|
rs1251286087
|
|
|
NM_000518.5(HBB):c.316-42del
|
rs746631999
|
|
|
NM_000518.5(HBB):c.316-7C>G
|
rs34483965
|
|
|
NM_000518.5(HBB):c.316-85A>G
|
rs1847534399
|
|
|
NM_000518.5(HBB):c.316-96G>A
|
rs193922561
|
|
|
NM_000518.5(HBB):c.316-99del
|
rs1257175417
|
|
|
NM_000518.5(HBB):c.31G>A (p.Ala11Thr)
|
rs63750717
|
|
|
NM_000518.5(HBB):c.33C>A (p.Ala11=)
|
rs35799536
|
|
|
NM_000518.5(HBB):c.394C>A (p.Gln132Lys)
|
rs33910209
|
|
|
NM_000518.5(HBB):c.394C>G (p.Gln132Glu)
|
rs33910209
|
|
|
NM_000518.5(HBB):c.402G>C (p.Val134=)
|
rs113082294
|
|
|
NM_000518.5(HBB):c.4G>A (p.Val2Met)
|
rs33958358
|
|
|
NM_000518.5(HBB):c.57G>A (p.Val19=)
|
rs1554918177
|
|
|
NM_000518.5(HBB):c.5T>C (p.Val2Ala)
|
rs33949930
|
|
|
NM_000518.5(HBB):c.92+13G>T
|
rs753444453
|
|
|
NM_000518.5(HBB):c.93-14T>C
|
rs1428777319
|
|
|
NM_000518.5(HBB):c.93-38G>A
|
|
|
|
NM_000518.5(HBB):c.93-6C>T
|
rs1554918048
|
|
|
NM_000520.6(HEXA):c.1146+18A>G
|
rs1555472543
|
|
|
NM_000520.6(HEXA):c.1421+15G>C
|
rs185764548
|
|
|
NM_000520.6(HEXA):c.1421+7del
|
rs747378954
|
|
|
NM_000520.6(HEXA):c.460-19C>T
|
rs1680245631
|
|
|
NM_000521.4(HEXB):c.150C>T (p.Ala50=)
|
rs779421706
|
|
|
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr)
|
rs778119481
|
|
|
NM_000521.4(HEXB):c.1613+14del
|
rs754704434
|
|
|
NM_000521.4(HEXB):c.42G>A (p.Leu14=)
|
rs1580377030
|
|
|
NM_000521.4(HEXB):c.670-14_670-13del
|
rs886060751
|
|
|
NM_000522.5(HOXA13):c.351_377del (p.Ala125_Ala133del)
|
rs1195806602
|
|
|
NM_000522.5(HOXA13):c.360_377del (p.Ala128_Ala133del)
|
rs35861510
|
|
|
NM_000524.4(HTR1A):c.-480del
|
rs367956927
|
|
|
NM_000525.4(KCNJ11):c.-559G>C
|
rs547932593
|
|
|
NM_000527.4(LDLR):c.-208A>T
|
rs879254361
|
|
|
NM_000527.4(LDLR):c.-215A>G
|
rs879254360
|
|
|
NM_000527.4(LDLR):c.-88G>A
|
|
|
|
NM_000527.4(LDLR):c.-97G>A
|
rs944580031
|
|
|
NM_000527.4(LDLR):c.-97G>T
|
rs944580031
|
|
|
NM_000527.5(LDLR):c.-36T>G
|
rs879254378
|
|
|
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
|
|
|
|
NM_000527.5(LDLR):c.1060+10G>A
|
|
|
|
NM_000527.5(LDLR):c.1061-8T>C
|
|
|
|
NM_000527.5(LDLR):c.1158C>G (p.Asp386Glu)
|
rs879254810
|
|
|
NM_000527.5(LDLR):c.1185G>C (p.Val395=)
|
rs879254818
|
|
|
NM_000527.5(LDLR):c.1186+11G>A
|
rs879254822
|
|
|
NM_000527.5(LDLR):c.1358+10G>A
|
|
|
|
NM_000527.5(LDLR):c.1359-6C>T
|
|
|
|
NM_000527.5(LDLR):c.1381G>A (p.Gly461Ser)
|
rs193922568
|
|
|
NM_000527.5(LDLR):c.1457G>A (p.Ser486Asn)
|
rs879254910
|
|
|
NM_000527.5(LDLR):c.148G>A (p.Ala50Thr)
|
rs137853960
|
|
|
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser)
|
rs137853960
|
|
|
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
|
|
|
|
NM_000527.5(LDLR):c.1553A>G (p.Lys518Arg)
|
rs879254938
|
|
|
NM_000527.5(LDLR):c.1586+12C>T
|
|
|
|
NM_000527.5(LDLR):c.1706-10G>A
|
|
|
|
NM_000527.5(LDLR):c.1792A>C (p.Ile598Leu)
|
rs879255023
|
|
|
NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr)
|
rs72658865
|
|
|
NM_000527.5(LDLR):c.1836C>A (p.Ala612=)
|
rs143872778
|
|
|
NM_000527.5(LDLR):c.1836C>T (p.Ala612=)
|
rs143872778
|
|
|
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)
|
|
|
|
NM_000527.5(LDLR):c.1846-9C>A
|
rs1568610732
|
|
|
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
|
|
|
|
NM_000527.5(LDLR):c.1863A>G (p.Thr621=)
|
rs768509914
|
|
|
NM_000527.5(LDLR):c.1874A>C (p.Asn625Thr)
|
rs879255064
|
|
|
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
|
|
|
|
NM_000527.5(LDLR):c.191-15C>G
|
rs749245318
|
|
|
NM_000527.5(LDLR):c.1928C>T (p.Ala643Val)
|
rs879255075
|
|
|
NM_000527.5(LDLR):c.1987+6G>C
|
rs752382813
|
|
|
NM_000527.5(LDLR):c.1990G>A (p.Val664Met)
|
rs879255103
|
|
|
NM_000527.5(LDLR):c.2017A>C (p.Ser673Arg)
|
|
|
|
NM_000527.5(LDLR):c.2113G>T (p.Ala705Ser)
|
rs193922570
|
|
|
NM_000527.5(LDLR):c.2140+14C>T
|
rs756150298
|
|
|
NM_000527.5(LDLR):c.2140+5G>A
|
|
|
|
NM_000527.5(LDLR):c.2141-7C>A
|
rs2147272729
|
|
|
NM_000527.5(LDLR):c.2146G>A (p.Glu716Lys)
|
rs879255149
|
|
|
NM_000527.5(LDLR):c.2150C>G (p.Ala717Gly)
|
rs879255150
|
|
|
NM_000527.5(LDLR):c.2171C>T (p.Thr724Ile)
|
rs879255154
|
|
|
NM_000527.5(LDLR):c.2205C>T (p.Ala735=)
|
rs763213863
|
|
|
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
|
|
|
|
NM_000527.5(LDLR):c.2231_2232delinsAG (p.Arg744Gln)
|
rs1555808091
|
|
|
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn)
|
rs150104358
|
|
|
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp)
|
rs574337291
|
|
|
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp)
|
rs774698247
|
|
|
NM_000527.5(LDLR):c.2312C>T (p.Ala771Val)
|
|
|
|
NM_000527.5(LDLR):c.2360T>A (p.Val787Glu)
|
rs879255182
|
|
|
NM_000527.5(LDLR):c.2374A>T (p.Ile792Phe)
|
rs761123215
|
|
|
NM_000527.5(LDLR):c.2384C>A (p.Pro795His)
|
rs879255184
|
|
|
NM_000527.5(LDLR):c.2389+14G>A
|
|
|
|
NM_000527.5(LDLR):c.2389+41C>A
|
|
|
|
NM_000527.5(LDLR):c.2389+4A>G
|
rs758493597
|
|
|
NM_000527.5(LDLR):c.2389+5G>A
|
rs879255191
|
|
|
NM_000527.5(LDLR):c.2389+5G>T
|
rs879255191
|
|
|
NM_000527.5(LDLR):c.2389+7G>A
|
|
|
|
NM_000527.5(LDLR):c.2399T>A (p.Val800Asp)
|
rs879255199
|
|
|
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
|
|
|
|
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964
|
|
|
NM_000527.5(LDLR):c.2506G>A (p.Val836Ile)
|
rs879255220
|
|
|
NM_000527.5(LDLR):c.250C>T (p.Pro84Ser)
|
rs879254449
|
|
|
NM_000527.5(LDLR):c.2548-19G>A
|
|
|
|
NM_000527.5(LDLR):c.274C>G (p.Gln92Glu)
|
rs774467219
|
|
|
NM_000527.5(LDLR):c.305A>C (p.Gln102Pro)
|
rs879254462
|
|
|
NM_000527.5(LDLR):c.373C>A (p.Gln125Lys)
|
rs875989899
|
|
|
NM_000527.5(LDLR):c.388T>A (p.Ser130Thr)
|
rs879254508
|
|
|
NM_000527.5(LDLR):c.388T>C (p.Ser130Pro)
|
rs879254508
|
|
|
NM_000527.5(LDLR):c.396G>A (p.Arg132=)
|
rs2077269758
|
|
|
NM_000527.5(LDLR):c.4G>A (p.Gly2Arg)
|
rs5931
|
|
|
NM_000527.5(LDLR):c.4G>C (p.Gly2Arg)
|
|
|
|
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg)
|
rs557344672
|
|
|
NM_000527.5(LDLR):c.59G>A (p.Gly20Glu)
|
rs1568582750
|
|
|
NM_000527.5(LDLR):c.621C>G (p.Gly207=)
|
rs121908044
|
|
|
NM_000527.5(LDLR):c.638G>C (p.Ser213Thr)
|
rs879254604
|
|
|
NM_000527.5(LDLR):c.690C>T (p.Asn230=)
|
rs879254643
|
|
|
NM_000527.5(LDLR):c.694+25C>T
|
|
|
|
NM_000527.5(LDLR):c.694+6G>A
|
rs1019330092
|
|
|
NM_000527.5(LDLR):c.694G>T (p.Ala232Ser)
|
rs72658857
|
|
|
NM_000527.5(LDLR):c.695-10T>G
|
|
|
|
NM_000527.5(LDLR):c.750T>C (p.His250=)
|
rs141929940
|
|
|
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
|
|
|
|
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
|
|
|
|
NM_000527.5(LDLR):c.770G>T (p.Arg257Leu)
|
rs757808215
|
|
|
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
|
|
|
|
NM_000527.5(LDLR):c.817+9T>C
|
|
|
|
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
|
|
|
|
NM_000527.5(LDLR):c.895G>T (p.Ala299Ser)
|
rs879254711
|
|
|
NM_000527.5(LDLR):c.932A>G (p.Lys311Arg)
|
rs761765254
|
|
|
NM_000527.5(LDLR):c.940+9C>T
|
|
|
|
NM_000527.5(LDLR):c.941-39C>T
|
|
|
|
NM_000527.5(LDLR):c.941-4G>A
|
|
|
|
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
|
|
|
|
NM_000527.5(LDLR):c.982G>A (p.Val328Ile)
|
rs768925824
|
|
|
NM_000528.4(MAN2B1):c.1068C>T (p.Pro356=)
|
rs117880912
|
|
|
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=)
|
rs762375074
|
|
|
NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=)
|
rs775200333
|
|
|
NM_000528.4(MAN2B1):c.1398G>A (p.Ala466=)
|
rs774396746
|
|
|
NM_000528.4(MAN2B1):c.1398G>T (p.Ala466=)
|
rs774396746
|
|
|
NM_000528.4(MAN2B1):c.2267+8dup
|
rs572289342
|
|
|
NM_000528.4(MAN2B1):c.2748C>T (p.Arg916=)
|
rs1184081650
|
|
|
NM_000528.4(MAN2B1):c.285C>T (p.Ala95=)
|
rs750997069
|
|
|
NM_000528.4(MAN2B1):c.2865G>A (p.Thr955=)
|
rs148108322
|
|
|
NM_000528.4(MAN2B1):c.2883C>A (p.Leu961=)
|
rs1376771729
|
|
|
NM_000528.4(MAN2B1):c.2991C>T (p.Ile997=)
|
rs886054228
|
|
|
NM_000528.4(MAN2B1):c.639C>T (p.Phe213=)
|
rs886054233
|
|
|
NM_000529.2(MC2R):c.80C>G (p.Pro27Arg)
|
rs28926178
|
|
|
NM_000530.8(MPZ):c.271G>A (p.Glu91Lys)
|
rs1383238492
|
|
|
NM_000530.8(MPZ):c.585-7_585-5del
|
rs770501358
|
|
|
NM_000530.8(MPZ):c.646-7C>G
|
rs377495735
|
|
|
NM_000532.5(PCCB):c.1452A>G (p.Ala484=)
|
rs781556055
|
|
|
NM_000532.5(PCCB):c.555G>C (p.Thr185=)
|
rs543691110
|
|
|
NM_000532.5(PCCB):c.763+3GA[4]
|
rs1553778916
|
|
|
NM_000535.7(PMS2):c.*2C>T
|
rs764124442
|
|
|
NM_000535.7(PMS2):c.*3G>A
|
rs776493195
|
|
|
NM_000535.7(PMS2):c.-2C>T
|
rs876658209
|
|
|
NM_000535.7(PMS2):c.-5C>A
|
rs786202272
|
|
|
NM_000535.7(PMS2):c.1068G>A (p.Lys356=)
|
rs528499793
|
|
|
NM_000535.7(PMS2):c.1099G>A (p.Val367Ile)
|
rs746889239
|
|
|
NM_000535.7(PMS2):c.1144+5G>C
|
rs1783506726
|
|
|
NM_000535.7(PMS2):c.1224T>C (p.Thr408=)
|
rs1554298007
|
|
|
NM_000535.7(PMS2):c.1238_1239delinsGG (p.Lys413Arg)
|
rs587780041
|
|
|
NM_000535.7(PMS2):c.1306A>G (p.Ser436Gly)
|
rs1583321782
|
|
|
NM_000535.7(PMS2):c.1382C>T (p.Ala461Val)
|
rs1060503133
|
|
|
NM_000535.7(PMS2):c.1423G>A (p.Val475Met)
|
rs864622579
|
|
|
NM_000535.7(PMS2):c.1437C>G (p.His479Gln)
|
rs63750685
|
|
|
NM_000535.7(PMS2):c.1454C>T (p.Thr485Met)
|
rs1805323
|
|
|
NM_000535.7(PMS2):c.1457A>G (p.Asp486Gly)
|
rs899935666
|
|
|
NM_000535.7(PMS2):c.1554G>C (p.Glu518Asp)
|
rs1562630820
|
|
|
NM_000535.7(PMS2):c.1574G>A (p.Gly525Glu)
|
|
|
|
NM_000535.7(PMS2):c.1679G>A (p.Cys560Tyr)
|
rs757989905
|
|
|
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln)
|
rs63750668
|
|
|
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)
|
rs63750668
|
|
|
NM_000535.7(PMS2):c.1688_1689delinsAG (p.Arg563Gln)
|
rs587780725
|
|
|
NM_000535.7(PMS2):c.1733G>A (p.Arg578His)
|
rs63750770
|
|
|
NM_000535.7(PMS2):c.1768A>G (p.Ile590Val)
|
rs63750476
|
|
|
NM_000535.7(PMS2):c.1771T>C (p.Cys591Arg)
|
rs764252217
|
|
|
NM_000535.7(PMS2):c.1789A>G (p.Thr597Ala)
|
rs1805318
|
|
|
NM_000535.7(PMS2):c.1795G>A (p.Asp599Asn)
|
rs1380574195
|
|
|
NM_000535.7(PMS2):c.1906G>A (p.Ala636Thr)
|
rs876658863
|
|
|
NM_000535.7(PMS2):c.2007-3C>T
|
|
|
|
NM_000535.7(PMS2):c.2083A>C (p.Ile695Leu)
|
rs1313824270
|
|
|
NM_000535.7(PMS2):c.24-4C>G
|
rs2345056
|
|
|
NM_000535.7(PMS2):c.2505G>T (p.Gly835=)
|
rs1583269666
|
|
|
NM_000535.7(PMS2):c.321G>T (p.Arg107=)
|
rs756420858
|
|
|
NM_000535.7(PMS2):c.354-12A>G
|
rs1554304135
|
|
|
NM_000535.7(PMS2):c.406A>G (p.Met136Val)
|
|
|
|
NM_000535.7(PMS2):c.538-12T>G
|
rs1554302551
|
|
|
NM_000535.7(PMS2):c.60G>C (p.Arg20=)
|
rs1554306548
|
|
|
NM_000535.7(PMS2):c.652G>A (p.Gly218Ser)
|
rs878854055
|
|
|
NM_000535.7(PMS2):c.706-11T>C
|
rs1185117521
|
|
|
NM_000535.7(PMS2):c.706-4del
|
rs60794673
|
|
|
NM_000535.7(PMS2):c.706-4dup
|
rs60794673
|
|
|
NM_000535.7(PMS2):c.706-5T>C
|
rs1203452929
|
|
|
NM_000535.7(PMS2):c.75G>A (p.Gln25=)
|
rs1554306525
|
|
|
NM_000535.7(PMS2):c.779_780delinsTG (p.Ser260Leu)
|
rs730881920
|
|
|
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys)
|
rs1805322
|
|
|
NM_000535.7(PMS2):c.8G>T (p.Arg3Leu)
|
rs375507981
|
|
|
NM_000535.7(PMS2):c.989-8dup
|
rs1333503820
|
|
|
NM_000536.4(RAG2):c.1391G>A (p.Arg464His)
|
rs147748696
|
|
|
NM_000539.3(RHO):c.696+5G>A
|
rs376802160
|
|
|
NM_000539.3(RHO):c.937-6T>A
|
rs543521798
|
|
|
NM_000540.3(RYR1):c.10097G>T (p.Arg3366Leu)
|
rs137932199
|
|
|
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=)
|
rs2229145
|
|
|
NM_000540.3(RYR1):c.10263G>A (p.Ala3421=)
|
rs778171066
|
|
|
NM_000540.3(RYR1):c.10564C>A (p.Leu3522Met)
|
rs200144997
|
|
|
NM_000540.3(RYR1):c.10740G>A (p.Pro3580=)
|
|
|
|
NM_000540.3(RYR1):c.10803C>A (p.Ala3601=)
|
rs141542477
|
|
|
NM_000540.3(RYR1):c.10824+13G>A
|
rs756468318
|
|
|
NM_000540.3(RYR1):c.11049GGA[4] (p.Glu3689del)
|
rs760784102
|
|
|
NM_000540.3(RYR1):c.11292C>T (p.Tyr3764=)
|
rs886054401
|
|
|
NM_000540.3(RYR1):c.11325C>T (p.Ala3775=)
|
|
|
|
NM_000540.3(RYR1):c.11779-11G>A
|
|
|
|
NM_000540.3(RYR1):c.11907+8G>A
|
rs886054402
|
|
|
NM_000540.3(RYR1):c.12084G>T (p.Ser4028=)
|
rs571477269
|
|
|
NM_000540.3(RYR1):c.1211A>G (p.His404Arg)
|
rs561546643
|
|
|
NM_000540.3(RYR1):c.12852CACGGCGGC[1] (p.4285TAA[1])
|
rs398123469
|
|
|
NM_000540.3(RYR1):c.12860_12869delinsT (p.Ala4287_Ala4290delinsVal)
|
rs796065337
|
|
|
NM_000540.3(RYR1):c.12954G>A (p.Arg4318=)
|
rs886054405
|
|
|
NM_000540.3(RYR1):c.12990C>G (p.Thr4330=)
|
rs184450380
|
|
|
NM_000540.3(RYR1):c.13038T>C (p.Ala4346=)
|
rs758223017
|
|
|
NM_000540.3(RYR1):c.13044G>A (p.Ala4348=)
|
rs794727985
|
|
|
NM_000540.3(RYR1):c.13113C>G (p.Ala4371=)
|
rs1599635569
|
|
|
NM_000540.3(RYR1):c.13388C>T (p.Ala4463Val)
|
rs1350916629
|
|
|
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)
|
rs150396398
|
|
|
NM_000540.3(RYR1):c.13551C>T (p.Pro4517=)
|
rs886054410
|
|
|
NM_000540.3(RYR1):c.13565C>T (p.Pro4522Leu)
|
rs145167688
|
|
|
NM_000540.3(RYR1):c.13680T>C (p.Phe4560=)
|
rs377664510
|
|
|
NM_000540.3(RYR1):c.14304-6C>A
|
rs794728693
|
|
|
NM_000540.3(RYR1):c.14365-6C>T
|
rs1064797242
|
|
|
NM_000540.3(RYR1):c.1441-12T>C
|
rs760987340
|
|
|
NM_000540.3(RYR1):c.14559C>T (p.Thr4853=)
|
rs570469685
|
|
|
NM_000540.3(RYR1):c.166-3dup
|
rs745926203
|
|
|
NM_000540.3(RYR1):c.2168-3dup
|
rs1555770306
|
|
|
NM_000540.3(RYR1):c.2501G>A (p.Arg834Gln)
|
rs1314923827
|
|
|
NM_000540.3(RYR1):c.3216C>T (p.Arg1072=)
|
rs1968178599
|
|
|
NM_000540.3(RYR1):c.3420C>G (p.Arg1140=)
|
rs201599911
|
|
|
NM_000540.3(RYR1):c.3420C>T (p.Arg1140=)
|
rs201599911
|
|
|
NM_000540.3(RYR1):c.3527C>T (p.Thr1176Ile)
|
rs549201486
|
|
|
NM_000540.3(RYR1):c.4266C>T (p.Asp1422=)
|
rs886054385
|
|
|
NM_000540.3(RYR1):c.4269C>G (p.Pro1423=)
|
rs2229141
|
|
|
NM_000540.3(RYR1):c.4269C>T (p.Pro1423=)
|
rs2229141
|
|
|
NM_000540.3(RYR1):c.447G>A (p.Met149Ile)
|
rs772652844
|
|
|
NM_000540.3(RYR1):c.4481T>C (p.Val1494Ala)
|
rs767928113
|
|
|
NM_000540.3(RYR1):c.4878C>T (p.Ala1626=)
|
rs369466056
|
|
|
NM_000540.3(RYR1):c.5025G>C (p.Leu1675=)
|
rs886054388
|
|
|
NM_000540.3(RYR1):c.5322G>A (p.Pro1774=)
|
rs572516017
|
|
|
NM_000540.3(RYR1):c.537+12C>A
|
rs779869638
|
|
|
NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del)
|
rs371047178
|
|
|
NM_000540.3(RYR1):c.5736G>A (p.Glu1912=)
|
rs753416949
|
|
|
NM_000540.3(RYR1):c.6023T>C (p.Met2008Thr)
|
rs199947661
|
|
|
NM_000540.3(RYR1):c.6027A>G (p.Leu2009=)
|
rs2145564113
|
|
|
NM_000540.3(RYR1):c.6150G>A (p.Glu2050=)
|
rs727504131
|
|
|
NM_000540.3(RYR1):c.6664-5C>G
|
rs867630021
|
|
|
NM_000540.3(RYR1):c.6904C>T (p.Leu2302=)
|
rs886042146
|
|
|
NM_000540.3(RYR1):c.7028-11C>G
|
rs369342449
|
|
|
NM_000540.3(RYR1):c.7028-13T>C
|
rs773283518
|
|
|
NM_000540.3(RYR1):c.7053T>C (p.Asn2351=)
|
rs748167551
|
|
|
NM_000540.3(RYR1):c.7140C>T (p.Ile2380=)
|
rs573431795
|
|
|
NM_000540.3(RYR1):c.7743T>C (p.Ser2581=)
|
rs1477392994
|
|
|
NM_000540.3(RYR1):c.7835+4_7835+5insGGCGG
|
|
|
|
NM_000540.3(RYR1):c.7836-6C>T
|
rs780269941
|
|
|
NM_000540.3(RYR1):c.7878G>C (p.Leu2626=)
|
rs148907377
|
|
|
NM_000540.3(RYR1):c.7927-7C>T
|
rs886054395
|
|
|
NM_000540.3(RYR1):c.821G>A (p.Arg274His)
|
rs368711923
|
|
|
NM_000540.3(RYR1):c.8430G>A (p.Lys2810=)
|
|
|
|
NM_000540.3(RYR1):c.8501C>G (p.Thr2834Arg)
|
rs555470100
|
|
|
NM_000540.3(RYR1):c.8816+5_8816+6delinsAT
|
|
|
|
NM_000540.3(RYR1):c.8820C>A (p.Gly2940=)
|
|
|
|
NM_000540.3(RYR1):c.9001-15C>A
|
rs372702492
|
|
|
NM_000540.3(RYR1):c.9123-14T>G
|
rs2145659049
|
|
|
NM_000540.3(RYR1):c.9336G>A (p.Leu3112=)
|
|
|
|
NM_000540.3(RYR1):c.9513T>C (p.Ser3171=)
|
rs1568524980
|
|
|
NM_000540.3(RYR1):c.9885C>G (p.Ala3295=)
|
rs776468955
|
|
|
NM_000541.5(SAG):c.732C>T (p.Phe244=)
|
rs377600235
|
|
|
NM_000542.5(SFTPB):c.272C>T (p.Thr91Met)
|
|
|
|
NM_000543.5(SMPD1):c.108GCTGGC[7] (p.38AL[7])
|
rs3838786
|
|
|
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8])
|
rs3838786
|
|
|
NM_000543.5(SMPD1):c.567A>G (p.Lys189=)
|
rs750187574
|
|
|
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)
|
rs202081954
|
|
|
NM_000545.8(HNF1A):c.-124G>C
|
rs563304627
|
|
|
NM_000545.8(HNF1A):c.-167TGGGGGT[3]
|
rs538476099
|
|
|
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala)
|
rs754729248
|
|
|
NM_000545.8(HNF1A):c.1380_1406del (p.Gln460_Leu468del)
|
rs544842497
|
|
|
NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu)
|
rs193922580
|
|
|
NM_000545.8(HNF1A):c.1502-19CT[2]
|
rs753496283
|
|
|
NM_000545.8(HNF1A):c.155_156delinsCT (p.Gly52Ala)
|
rs587778393
|
|
|
NM_000545.8(HNF1A):c.872C>A (p.Pro291Gln)
|
rs193922606
|
|
|
NM_000546.6(TP53):c.100C>A (p.Pro34Thr)
|
rs786201968
|
|
|
NM_000546.6(TP53):c.100C>G (p.Pro34Ala)
|
rs786201968
|
|
|
NM_000546.6(TP53):c.1014C>G (p.Phe338Leu)
|
rs150293825
|
|
|
NM_000546.6(TP53):c.1015G>C (p.Glu339Gln)
|
rs17882252
|
|
|
NM_000546.6(TP53):c.101C>G (p.Pro34Arg)
|
rs1322947350
|
|
|
NM_000546.6(TP53):c.103T>A (p.Leu35Met)
|
rs1060501211
|
|
|
NM_000546.6(TP53):c.1054G>T (p.Asp352Tyr)
|
rs1555524394
|
|
|
NM_000546.6(TP53):c.1064C>T (p.Ala355Val)
|
rs1555524382
|
|
|
NM_000546.6(TP53):c.1072G>A (p.Glu358Lys)
|
rs587782237
|
|
|
NM_000546.6(TP53):c.1073A>T (p.Glu358Val)
|
rs773553186
|
|
|
NM_000546.6(TP53):c.1079G>T (p.Gly360Val)
|
rs35993958
|
|
|
NM_000546.6(TP53):c.107C>A (p.Pro36Gln)
|
rs587781866
|
|
|
NM_000546.6(TP53):c.1093C>T (p.His365Tyr)
|
rs267605075
|
|
|
NM_000546.6(TP53):c.1100+8A>G
|
rs878854062
|
|
|
NM_000546.6(TP53):c.1102C>T (p.His368Tyr)
|
rs786204227
|
|
|
NM_000546.6(TP53):c.1104C>A (p.His368Gln)
|
rs1289241865
|
|
|
NM_000546.6(TP53):c.1104C>G (p.His368Gln)
|
rs1289241865
|
|
|
NM_000546.6(TP53):c.1115A>G (p.Lys372Arg)
|
rs876658876
|
|
|
NM_000546.6(TP53):c.1118A>G (p.Lys373Arg)
|
rs1567540504
|
|
|
NM_000546.6(TP53):c.1130C>T (p.Thr377Ile)
|
rs1597345549
|
|
|
NM_000546.6(TP53):c.1135C>A (p.Arg379Ser)
|
rs749061599
|
|
|
NM_000546.6(TP53):c.1135C>T (p.Arg379Cys)
|
rs749061599
|
|
|
NM_000546.6(TP53):c.1136G>T (p.Arg379Leu)
|
rs863224682
|
|
|
NM_000546.6(TP53):c.1163A>C (p.Glu388Ala)
|
rs587781736
|
|
|
NM_000546.6(TP53):c.116C>T (p.Ala39Val)
|
rs1353016807
|
|
|
NM_000546.6(TP53):c.1177G>A (p.Asp393Asn)
|
rs1192921623
|
|
|
NM_000546.6(TP53):c.1177G>C (p.Asp393His)
|
rs1192921623
|
|
|
NM_000546.6(TP53):c.118A>G (p.Met40Val)
|
rs1597375159
|
|
|
NM_000546.6(TP53):c.11C>G (p.Pro4Arg)
|
rs878854064
|
|
|
NM_000546.6(TP53):c.11C>T (p.Pro4Leu)
|
rs878854064
|
|
|
NM_000546.6(TP53):c.121G>A (p.Asp41Asn)
|
rs1555526789
|
|
|
NM_000546.6(TP53):c.125A>G (p.Asp42Gly)
|
rs587781767
|
|
|
NM_000546.6(TP53):c.132G>A (p.Met44Ile)
|
rs1060501190
|
|
|
NM_000546.6(TP53):c.139C>A (p.Pro47Thr)
|
rs1800371
|
|
|
NM_000546.6(TP53):c.140C>G (p.Pro47Arg)
|
rs1597375038
|
|
|
NM_000546.6(TP53):c.144C>A (p.Asp48Glu)
|
rs587781460
|
|
|
NM_000546.6(TP53):c.145G>C (p.Asp49His)
|
rs587780728
|
|
|
NM_000546.6(TP53):c.149T>C (p.Ile50Thr)
|
rs370502517
|
|
|
NM_000546.6(TP53):c.183T>A (p.Asp61Glu)
|
rs1597374797
|
|
|
NM_000546.6(TP53):c.198G>A (p.Met66Ile)
|
rs1555526711
|
|
|
NM_000546.6(TP53):c.19G>C (p.Asp7His)
|
rs587782646
|
|
|
NM_000546.6(TP53):c.205G>A (p.Ala69Thr)
|
rs1567556618
|
|
|
NM_000546.6(TP53):c.211C>G (p.Pro71Ala)
|
rs1567556576
|
|
|
NM_000546.6(TP53):c.214C>A (p.Pro72Thr)
|
rs587782769
|
|
|
NM_000546.6(TP53):c.214_215delinsTG (p.Pro72Cys)
|
rs730882014
|
|
|
NM_000546.6(TP53):c.215C>A (p.Pro72His)
|
rs1042522
|
|
|
NM_000546.6(TP53):c.215_217delinsGCA (p.Pro72_Val73delinsArgMet)
|
|
|
|
NM_000546.6(TP53):c.229C>A (p.Pro77Thr)
|
rs753085009
|
|
|
NM_000546.6(TP53):c.22C>A (p.Pro8Thr)
|
rs1597376589
|
|
|
NM_000546.6(TP53):c.233C>G (p.Ala78Gly)
|
rs876658527
|
|
|
NM_000546.6(TP53):c.244C>G (p.Pro82Ala)
|
rs1555526664
|
|
|
NM_000546.6(TP53):c.248C>A (p.Ala83Glu)
|
rs201717599
|
|
|
NM_000546.6(TP53):c.256G>C (p.Ala86Pro)
|
|
|
|
NM_000546.6(TP53):c.257C>T (p.Ala86Val)
|
rs1597374264
|
|
|
NM_000546.6(TP53):c.263C>T (p.Ala88Val)
|
rs1555526631
|
|
|
NM_000546.6(TP53):c.266C>T (p.Pro89Leu)
|
rs730881994
|
|
|
NM_000546.6(TP53):c.275C>T (p.Pro92Leu)
|
rs1210700121
|
|
|
NM_000546.6(TP53):c.27C>G (p.Ser9Arg)
|
rs757282628
|
|
|
NM_000546.6(TP53):c.28G>C (p.Val10Leu)
|
rs535274413
|
|
|
NM_000546.6(TP53):c.305C>T (p.Thr102Ile)
|
rs786202717
|
|
|
NM_000546.6(TP53):c.31G>C (p.Glu11Gln)
|
rs201382018
|
|
|
NM_000546.6(TP53):c.322G>A (p.Gly108Ser)
|
rs587782461
|
|
|
NM_000546.6(TP53):c.343C>A (p.His115Asn)
|
rs1555526532
|
|
|
NM_000546.6(TP53):c.344A>G (p.His115Arg)
|
rs730881996
|
|
|
NM_000546.6(TP53):c.35C>T (p.Pro12Leu)
|
rs1482497533
|
|
|
NM_000546.6(TP53):c.364G>A (p.Val122Met)
|
rs587781495
|
|
|
NM_000546.6(TP53):c.376-4A>T
|
rs1221388024
|
|
|
NM_000546.6(TP53):c.382C>A (p.Pro128Thr)
|
rs1555526327
|
|
|
NM_000546.6(TP53):c.385G>A (p.Ala129Thr)
|
rs1438095083
|
|
|
NM_000546.6(TP53):c.548C>T (p.Ser183Leu)
|
rs1555525970
|
|
|
NM_000546.6(TP53):c.559+8G>A
|
rs775915220
|
|
|
NM_000546.6(TP53):c.604C>G (p.Arg202Gly)
|
rs587780072
|
|
|
NM_000546.6(TP53):c.605G>A (p.Arg202His)
|
rs587778719
|
|
|
NM_000546.6(TP53):c.625A>G (p.Arg209Gly)
|
rs1429743956
|
|
|
NM_000546.6(TP53):c.66A>G (p.Leu22=)
|
rs748527030
|
|
|
NM_000546.6(TP53):c.672+9T>C
|
rs1057521030
|
|
|
NM_000546.6(TP53):c.673-4C>G
|
rs1555525586
|
|
|
NM_000546.6(TP53):c.673-5C>G
|
rs876658684
|
|
|
NM_000546.6(TP53):c.673G>A (p.Val225Ile)
|
rs746504075
|
|
|
NM_000546.6(TP53):c.684C>G (p.Asp228Glu)
|
rs2073267220
|
|
|
NM_000546.6(TP53):c.698A>G (p.His233Arg)
|
rs879254233
|
|
|
NM_000546.6(TP53):c.779C>A (p.Ser260Tyr)
|
rs876658916
|
|
|
NM_000546.6(TP53):c.783-16_783-15del
|
rs1064793810
|
|
|
NM_000546.6(TP53):c.783-4G>A
|
rs1060504160
|
|
|
NM_000546.6(TP53):c.787A>G (p.Asn263Asp)
|
rs72661119
|
|
|
NM_000546.6(TP53):c.79C>A (p.Pro27Thr)
|
rs922736614
|
|
|
NM_000546.6(TP53):c.7G>A (p.Glu3Lys)
|
rs2073524362
|
|
|
NM_000546.6(TP53):c.83A>T (p.Glu28Val)
|
rs786202289
|
|
|
NM_000546.6(TP53):c.859G>A (p.Glu287Lys)
|
rs587782006
|
|
|
NM_000546.6(TP53):c.868C>G (p.Arg290Gly)
|
rs770374782
|
|
|
NM_000546.6(TP53):c.873G>C (p.Lys291Asn)
|
rs372613518
|
|
|
NM_000546.6(TP53):c.877G>A (p.Gly293Arg)
|
rs587780076
|
|
|
NM_000546.6(TP53):c.886C>T (p.His296Tyr)
|
rs672601296
|
|
|
NM_000546.6(TP53):c.892G>A (p.Glu298Lys)
|
rs201744589
|
|
|
NM_000546.6(TP53):c.905G>A (p.Gly302Glu)
|
rs1060501202
|
|
|
NM_000546.6(TP53):c.908G>A (p.Ser303Asn)
|
rs876658714
|
|
|
NM_000546.6(TP53):c.917G>A (p.Arg306Gln)
|
rs1048095040
|
|
|
NM_000546.6(TP53):c.919+3A>G
|
rs876659784
|
|
|
NM_000546.6(TP53):c.920-14_920-3del
|
rs768598540
|
|
|
NM_000546.6(TP53):c.924G>C (p.Leu308=)
|
rs786202546
|
|
|
NM_000546.6(TP53):c.930C>A (p.Asn310Lys)
|
rs876660829
|
|
|
NM_000546.6(TP53):c.931A>C (p.Asn311His)
|
rs1555525007
|
|
|
NM_000546.6(TP53):c.941C>T (p.Ser314Phe)
|
rs751440465
|
|
|
NM_000546.6(TP53):c.946C>T (p.Pro316Ser)
|
rs772773208
|
|
|
NM_000546.6(TP53):c.947C>T (p.Pro316Leu)
|
rs1555524979
|
|
|
NM_000546.6(TP53):c.953C>T (p.Pro318Leu)
|
rs1555524975
|
|
|
NM_000546.6(TP53):c.964C>T (p.Pro322Ser)
|
rs863224687
|
|
|
NM_000546.6(TP53):c.97-3C>T
|
rs786203749
|
|
|
NM_000546.6(TP53):c.97-4A>T
|
rs746791390
|
|
|
NM_000546.6(TP53):c.974G>A (p.Gly325Glu)
|
rs121912659
|
|
|
NM_000546.6(TP53):c.986C>T (p.Thr329Ile)
|
rs969930693
|
|
|
NM_000546.6(TP53):c.98C>A (p.Ser33Tyr)
|
rs1555526832
|
|
|
NM_000546.6(TP53):c.993+8G>A
|
rs1060504163
|
|
|
NM_000546.6(TP53):c.997C>T (p.Arg333Cys)
|
rs769934890
|
|
|
NM_000548.5(TSC2):c.1014C>T (p.Ile338=)
|
rs1250621196
|
|
|
NM_000548.5(TSC2):c.1119+3G>C
|
rs79668097
|
|
|
NM_000548.5(TSC2):c.1134G>A (p.Pro378=)
|
rs754343186
|
|
|
NM_000548.5(TSC2):c.1137G>A (p.Glu379=)
|
rs1057519260
|
|
|
NM_000548.5(TSC2):c.1258-10C>G
|
rs794727093
|
|
|
NM_000548.5(TSC2):c.1298C>G (p.Ser433Cys)
|
rs397515187
|
|
|
NM_000548.5(TSC2):c.1307C>T (p.Pro436Leu)
|
rs796053485
|
|
|
NM_000548.5(TSC2):c.1443+5G>A
|
rs1057521562
|
|
|
NM_000548.5(TSC2):c.1458C>G (p.Asn486Lys)
|
rs200532154
|
|
|
NM_000548.5(TSC2):c.1577G>A (p.Ser526Asn)
|
rs376573446
|
|
|
NM_000548.5(TSC2):c.1593C>G (p.Ile531Met)
|
rs45517180
|
|
|
NM_000548.5(TSC2):c.1729A>G (p.Thr577Ala)
|
rs1204749633
|
|
|
NM_000548.5(TSC2):c.17G>A (p.Ser6Asn)
|
rs758239066
|
|
|
NM_000548.5(TSC2):c.1933G>A (p.Val645Ile)
|
rs746677177
|
|
|
NM_000548.5(TSC2):c.1946+5G>T
|
rs766646261
|
|
|
NM_000548.5(TSC2):c.2049_2050delinsTC (p.Val684Leu)
|
rs1555506150
|
|
|
NM_000548.5(TSC2):c.2152C>T (p.Arg718Cys)
|
rs182538665
|
|
|
NM_000548.5(TSC2):c.2167A>G (p.Ile723Val)
|
rs764725850
|
|
|
NM_000548.5(TSC2):c.226C>T (p.His76Tyr)
|
rs574779350
|
|
|
NM_000548.5(TSC2):c.2356-5T>G
|
rs796053488
|
|
|
NM_000548.5(TSC2):c.2447C>T (p.Pro816Leu)
|
rs45517236
|
|
|
NM_000548.5(TSC2):c.2452A>G (p.Ile818Val)
|
rs1596356585
|
|
|
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser)
|
rs397515077
|
|
|
NM_000548.5(TSC2):c.2639+6T>C
|
rs2151382514
|
|
|
NM_000548.5(TSC2):c.264G>A (p.Leu88=)
|
rs1466279830
|
|
|
NM_000548.5(TSC2):c.2742+6C>G
|
rs377568673
|
|
|
NM_000548.5(TSC2):c.2788_2790delinsGAC (p.Lys930Asp)
|
rs1060500935
|
|
|
NM_000548.5(TSC2):c.2838-3T>C
|
rs553942147
|
|
|
NM_000548.5(TSC2):c.2967-1G>T
|
rs1596382055
|
|
|
NM_000548.5(TSC2):c.30C>T (p.Gly10=)
|
rs876659726
|
|
|
NM_000548.5(TSC2):c.3102C>T (p.Val1034=)
|
rs562998574
|
|
|
NM_000548.5(TSC2):c.3281C>T (p.Ser1094Leu)
|
rs397514887
|
|
|
NM_000548.5(TSC2):c.3358G>C (p.Val1120Leu)
|
rs1053311636
|
|
|
NM_000548.5(TSC2):c.3396G>T (p.Ser1132=)
|
rs373004429
|
|
|
NM_000548.5(TSC2):c.339C>T (p.Gly113=)
|
rs368451664
|
|
|
NM_000548.5(TSC2):c.3425T>C (p.Leu1142Pro)
|
rs796053513
|
|
|
NM_000548.5(TSC2):c.3476G>A (p.Arg1159Gln)
|
rs45473098
|
|
|
NM_000548.5(TSC2):c.3565C>G (p.Leu1189Val)
|
rs796053476
|
|
|
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg)
|
rs587778732
|
|
|
NM_000548.5(TSC2):c.4087G>A (p.Val1363Ile)
|
rs751203255
|
|
|
NM_000548.5(TSC2):c.4216G>T (p.Asp1406Tyr)
|
rs147719291
|
|
|
NM_000548.5(TSC2):c.4351C>T (p.Arg1451Cys)
|
rs369553241
|
|
|
NM_000548.5(TSC2):c.4368C>T (p.Leu1456=)
|
rs1555514397
|
|
|
NM_000548.5(TSC2):c.4416C>T (p.Gly1472=)
|
rs2090534289
|
|
|
NM_000548.5(TSC2):c.4432G>C (p.Asp1478His)
|
rs45517343
|
|
|
NM_000548.5(TSC2):c.4465G>A (p.Ala1489Thr)
|
rs587778740
|
|
|
NM_000548.5(TSC2):c.4498G>A (p.Val1500Met)
|
rs397515167
|
|
|
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del)
|
rs137854239
|
|
|
NM_000548.5(TSC2):c.4527C>A (p.Phe1509Leu)
|
rs775919951
|
|
|
NM_000548.5(TSC2):c.4612C>T (p.Pro1538Ser)
|
rs1060500930
|
|
|
NM_000548.5(TSC2):c.4663-11_4663-5del
|
rs760527750
|
|
|
NM_000548.5(TSC2):c.4678G>A (p.Ala1560Thr)
|
rs777539610
|
|
|
NM_000548.5(TSC2):c.4747G>A (p.Glu1583Lys)
|
rs886039446
|
|
|
NM_000548.5(TSC2):c.4992C>T (p.Gly1664=)
|
rs145002269
|
|
|
NM_000548.5(TSC2):c.501G>C (p.Trp167Cys)
|
rs755728007
|
|
|
NM_000548.5(TSC2):c.5069-10G>A
|
|
|
|
NM_000548.5(TSC2):c.508G>A (p.Val170Ile)
|
rs1596270815
|
|
|
NM_000548.5(TSC2):c.5161-5C>G
|
rs775534948
|
|
|
NM_000548.5(TSC2):c.5219G>C (p.Trp1740Ser)
|
rs137854219
|
|
|
NM_000548.5(TSC2):c.5268G>C (p.Glu1756Asp)
|
rs755229386
|
|
|
NM_000548.5(TSC2):c.5269G>A (p.Glu1757Lys)
|
rs1060500957
|
|
|
NM_000548.5(TSC2):c.5272G>C (p.Ala1758Pro)
|
rs1555441169
|
|
|
NM_000548.5(TSC2):c.540G>A (p.Leu180=)
|
rs1567403619
|
|
|
NM_000548.5(TSC2):c.599+3A>G
|
rs397514899
|
|
|
NM_000548.5(TSC2):c.775-5C>G
|
rs181827303
|
|
|
NM_000548.5(TSC2):c.833A>G (p.His278Arg)
|
rs397515266
|
|
|
NM_000548.5(TSC2):c.849-13G>A
|
rs886051787
|
|
|
NM_000548.5(TSC2):c.929A>G (p.Tyr310Cys)
|
rs878854122
|
|
|
NM_000551.4(VHL):c.-61_-51dup
|
rs727503743
|
|
|
NM_000551.4(VHL):c.131G>A (p.Gly44Asp)
|
rs1056226386
|
|
|
NM_000551.4(VHL):c.154G>A (p.Glu52Lys)
|
rs373068386
|
|
|
NM_000551.4(VHL):c.341-4A>T
|
rs1559428033
|
|
|
NM_000551.4(VHL):c.385C>G (p.Leu129Val)
|
rs369018004
|
|
|
NM_000551.4(VHL):c.3G>A (p.Met1Ile)
|
rs578091032
|
|
|
NM_000551.4(VHL):c.3G>T (p.Met1Ile)
|
rs578091032
|
|
|
NM_000552.5(VWF):c.1110-6dup
|
rs534403271
|
|
|
NM_000552.5(VWF):c.1613C>T (p.Pro538Leu)
|
rs139196998
|
|
|
NM_000552.5(VWF):c.3692A>C (p.Asn1231Thr)
|
rs61749368
|
|
|
NM_000552.5(VWF):c.3692A>G (p.Asn1231Ser)
|
rs61749368
|
|
|
NM_000552.5(VWF):c.5793G>A (p.Gln1931=)
|
|
|
|
NM_000552.5(VWF):c.7624A>G (p.Ile2542Val)
|
|
|
|
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro)
|
rs149834874
|
|
|
NM_000552.5(VWF):c.8295C>T (p.Asn2765=)
|
|
|
|
NM_000553.6(WRN):c.1181C>T (p.Ser394Leu)
|
rs200487813
|
|
|
NM_000553.6(WRN):c.1518AGA[4] (p.Glu510del)
|
rs781777438
|
|
|
NM_000553.6(WRN):c.210-8C>T
|
rs1812609160
|
|
|
NM_000553.6(WRN):c.2166T>C (p.Asn722=)
|
rs1334120731
|
|
|
NM_000553.6(WRN):c.2338G>A (p.Val780Ile)
|
rs574787451
|
|
|
NM_000553.6(WRN):c.3078A>G (p.Gly1026=)
|
rs886062892
|
|
|
NM_000553.6(WRN):c.3582G>A (p.Thr1194=)
|
rs762685242
|
|
|
NM_000553.6(WRN):c.3819+14T>C
|
rs886062894
|
|
|
NM_000553.6(WRN):c.3972C>T (p.Pro1324=)
|
rs370253199
|
|
|
NM_000557.5(GDF5):c.1299C>T (p.Cys433=)
|
rs886042958
|
|
|
NM_000558.3(HBA1):c.154G>C (p.Gly52Arg)
|
rs33960522
|
|
|
NM_000558.3(HBA1):c.226G>T (p.Asp76Tyr)
|
rs33977363
|
|
|
NM_000558.4(HBA1):c.-52C>T
|
rs1276035978
|
|
|
NM_000558.5(HBA1):c.223G>C (p.Asp75His)
|
rs28928875
|
|
|
NM_000558.5(HBA1):c.47G>A (p.Gly16Asp)
|
rs281865560
|
|
|
NM_000558.5(HBA1):c.84G>T (p.Glu28Asp)
|
rs41530750
|
|
|
NM_000558.5(HBA1):c.91G>A (p.Glu31Lys)
|
rs33993166
|
|
|
NM_000574.5(CD55):c.155G>C (p.Arg52Pro)
|
rs28371588
|
|
|
NM_000628.5(IL10RB):c.332-11C>T
|
rs531765635
|
|
|
NM_000628.5(IL10RB):c.727G>T (p.Ala243Ser)
|
rs1058861
|
|
|
NM_000629.3(IFNAR1):c.919G>A (p.Val307Ile)
|
rs17875833
|
|
|
NM_000637.5(GSR):c.943G>A (p.Gly315Ser)
|
|
|
|
NM_000642.3(AGL):c.1263A>G (p.Arg421=)
|
rs1175506369
|
|
|
NM_000642.3(AGL):c.1326A>G (p.Glu442=)
|
rs886044919
|
|
|
NM_000642.3(AGL):c.1758T>C (p.Ser586=)
|
|
|
|
NM_000642.3(AGL):c.1829G>A (p.Arg610Lys)
|
rs781127120
|
|
|
NM_000642.3(AGL):c.344T>C (p.Val115Ala)
|
rs567992352
|
|
|
NM_000642.3(AGL):c.4189G>A (p.Ala1397Thr)
|
rs375755924
|
|
|
NM_000642.3(AGL):c.443G>A (p.Arg148Lys)
|
rs542885983
|
|
|
NM_000642.3(AGL):c.887T>G (p.Leu296Arg)
|
rs748142986
|
|
|
NM_000651.6(CR1):c.5652G>A (p.Met1884Ile)
|
|
|
|
NM_000651.6(CR1):c.6373G>T (p.Val2125Leu)
|
rs202148801
|
|
|
NM_000660.7(TGFB1):c.86G>A (p.Gly29Glu)
|
rs199758510
|
|
|
NM_000686.5(AGTR2):c.402del (p.Phe134fs)
|
rs387906503
|
|
|
NM_000701.8(ATP1A1):c.12+3G>T
|
|
|
|
NM_000709.4(BCKDHA):c.441C>G (p.Ala147=)
|
rs2039284438
|
|
|
NM_000709.4(BCKDHA):c.939C>T (p.Ala313=)
|
rs2039381646
|
|
|
NM_000709.4(BCKDHA):c.978C>A (p.Ile326=)
|
rs398123514
|
|
|
NM_000709.4(BCKDHA):c.995+8C>T
|
rs886054462
|
|
|
NM_000718.4(CACNA1B):c.5240A>G (p.Asn1747Ser)
|
|
|
|
NM_000718.4(CACNA1B):c.5945G>A (p.Arg1982Gln)
|
|
|
|
NM_000718.4(CACNA1B):c.6122G>A (p.Arg2041His)
|
|
|
|
NM_000719.7(CACNA1C):c.1218-6C>T
|
rs727503833
|
|
|
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del)
|
rs575583988
|
|
|
NM_000719.7(CACNA1C):c.3462C>A (p.Ala1154=)
|
|
|
|
NM_000719.7(CACNA1C):c.3862G>A (p.Ala1288Thr)
|
rs367895193
|
|
|
NM_000719.7(CACNA1C):c.447A>G (p.Glu149=)
|
rs1297869395
|
|
|
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=)
|
rs199538058
|
|
|
NM_000719.7(CACNA1C):c.5408G>C (p.Arg1803Pro)
|
rs201918158
|
|
|
NM_000732.6(CD3D):c.450+7G>T
|
rs201810356
|
|
|
NM_000733.4(CD3E):c.211G>C (p.Asp71His)
|
rs148647954
|
|
|
NM_000733.4(CD3E):c.353-5C>A
|
rs374456909
|
|
|
NM_000744.7(CHRNA4):c.681C>A (p.Ala227=)
|
rs45588436
|
|
|
NM_000748.3(CHRNB2):c.1378C>G (p.Arg460Gly)
|
rs202079239
|
|
|
NM_000751.3(CHRND):c.1455A>G (p.Thr485=)
|
rs756537437
|
|
|
NM_000782.5(CYP24A1):c.469C>T (p.Arg157Trp)
|
rs35873579
|
|
|
NM_000784.4(CYP27A1):c.1029G>T (p.Thr343=)
|
rs771343931
|
|
|
NM_000784.4(CYP27A1):c.1102_1104delinsTTA (p.Val368Leu)
|
rs886043512
|
|
|
NM_000784.4(CYP27A1):c.309G>A (p.Gln103=)
|
rs1306558952
|
|
|
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln)
|
rs148417330
|
|
|
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro)
|
rs148417330
|
|
|
NM_000784.4(CYP27A1):c.693A>T (p.Arg231=)
|
rs1187804477
|
|
|
NM_000789.4(ACE):c.417+4G>A
|
|
|
|
NM_000791.4(DHFR):c.-231C>A
|
|
|
|
NM_000791.4(DHFR):c.-437GGGGCGCTG[3]
|
rs60484572
|
|
|
NM_000806.5(GABRA1):c.-438del
|
rs112361424
|
|
|
NM_000806.5(GABRA1):c.-442dup
|
rs201310567
|
|
|
NM_000807.4(GABRA2):c.1214C>T (p.Ala405Val)
|
|
|
|
NM_000807.4(GABRA2):c.1219_1220delinsAA (p.Ala407Lys)
|
rs1553895447
|
|
|
NM_000807.4(GABRA2):c.26A>G (p.Asn9Ser)
|
|
|
|
NM_000812.4(GABRB1):c.80+3G>A
|
|
|
|
NM_000834.5(GRIN2B):c.4309G>A (p.Ala1437Thr)
|
rs797045608
|
|
|
NM_000836.4(GRIN2D):c.2852C>T (p.Pro951Leu)
|
rs1167787806
|
|
|
NM_000836.4(GRIN2D):c.3674G>T (p.Arg1225Leu)
|
rs558749972
|
|
|
NM_000836.4(GRIN2D):c.578G>A (p.Arg193His)
|
|
|
|
NM_000836.4(GRIN2D):c.749G>C (p.Arg250Pro)
|
|
|
|
NM_000843.4(GRM6):c.58_72del (p.Trp20_Ala24del)
|
rs1189206125
|
|
|
NM_000875.5(IGF1R):c.885G>T (p.Gly295=)
|
rs56303650
|
|
|
NM_000883.4(IMPDH1):c.1362C>A (p.Thr454=)
|
rs62481098
|
|
|
NM_000891.3(KCNJ2):c.-1G>A
|
|
|
|
NM_000925.4(PDHB):c.249T>C (p.Ile83=)
|
rs886058779
|
|
|
NM_000925.4(PDHB):c.96+12G>A
|
rs773433623
|
|
|
NM_000936.4(PNLIP):c.811+5A>G
|
|
|
|
NM_000939.4(POMC):c.394C>G (p.Pro132Ala)
|
rs8192606
|
|
|
NM_000969.5(RPL5):c.426C>G (p.Phe142Leu)
|
rs11540836
|
|
|
NM_000979.4(RPL18):c.239C>T (p.Ala80Val)
|
|
|
|
NM_001001331.4(ATP2B2):c.1427A>G (p.Lys476Arg)
|
|
|
|
NM_001001888.4(VCX3B):c.7C>T (p.Pro3Ser)
|
rs775484942
|
|
|
NM_001004334.4(GPR179):c.582C>A (p.Thr194=)
|
rs756762102
|
|
|
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro)
|
rs200586695
|
|
|
NM_001005242.3(PKP2):c.1442T>G (p.Leu481Arg)
|
rs397516998
|
|
|
NM_001005242.3(PKP2):c.1644A>T (p.Gly548=)
|
rs1555143127
|
|
|
NM_001005242.3(PKP2):c.1852G>A (p.Val618Met)
|
rs770909247
|
|
|
NM_001005242.3(PKP2):c.2013A>G (p.Pro671=)
|
rs1956373944
|
|
|
NM_001005242.3(PKP2):c.2168-4G>C
|
rs376231586
|
|
|
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser)
|
rs139734328
|
|
|
NM_001005242.3(PKP2):c.2445+11G>T
|
rs1356336963
|
|
|
NM_001005242.3(PKP2):c.2446-10dup
|
rs397517024
|
|
|
NM_001005242.3(PKP2):c.2499C>A (p.His833Gln)
|
rs202094467
|
|
|
NM_001005242.3(PKP2):c.730C>G (p.Pro244Ala)
|
rs756376477
|
|
|
NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys)
|
rs200069860
|
|
|
NM_001005361.3(DNM2):c.1372C>A (p.Arg458=)
|
rs745748213
|
|
|
NM_001005361.3(DNM2):c.1546-18A>C
|
rs1426762153
|
|
|
NM_001005361.3(DNM2):c.1782-7C>A
|
rs200843089
|
|
|
NM_001005361.3(DNM2):c.625C>T (p.Leu209=)
|
rs927749691
|
|
|
NM_001005373.4(LRSAM1):c.1035C>T (p.Asp345=)
|
rs766701971
|
|
|
NM_001005373.4(LRSAM1):c.1351G>A (p.Ala451Thr)
|
rs202166023
|
|
|
NM_001005373.4(LRSAM1):c.1930G>T (p.Gly644Cys)
|
rs201284198
|
|
|
NM_001005373.4(LRSAM1):c.2115C>T (p.Thr705=)
|
rs1410005477
|
|
|
NM_001005373.4(LRSAM1):c.72+10del
|
rs1554753226
|
|
|
NM_001005388.3(NFASC):c.22C>T (p.Pro8Ser)
|
|
|
|
NM_001006658.3(CR2):c.524C>T (p.Pro175Leu)
|
rs75282758
|
|
|
NM_001007026.1(ATN1):c.1462CAG[17] (p.Gln488[17])
|
rs60216939
|
|
|
NM_001008216.2(GALE):c.330C>T (p.Thr110=)
|
rs377557637
|
|
|
NM_001008216.2(GALE):c.450G>A (p.Thr150=)
|
rs566884215
|
|
|
NM_001008216.2(GALE):c.529-11A>G
|
|
|
|
NM_001008216.2(GALE):c.989-13C>T
|
rs199622680
|
|
|
NM_001008388.5(CISD2):c.103+5T>G
|
|
|
|
NM_001008537.3(NEXMIF):c.2895A>G (p.Gln965=)
|
rs1556016407
|
|
|
NM_001008537.3(NEXMIF):c.3347G>C (p.Cys1116Ser)
|
rs2080102020
|
|
|
NM_001008537.3(NEXMIF):c.3728G>A (p.Arg1243His)
|
rs1256402686
|
|
|
NM_001008537.3(NEXMIF):c.431G>A (p.Arg144Gln)
|
rs1029069870
|
|
|
NM_001009944.3(PKD1):c.10102G>A (p.Asp3368Asn)
|
|
|
|
NM_001009944.3(PKD1):c.3239C>A (p.Pro1080His)
|
|
|
|
NM_001009944.3(PKD1):c.3548C>T (p.Ser1183Leu)
|
rs551162125
|
|
|
NM_001009944.3(PKD1):c.4136A>G (p.Glu1379Gly)
|
rs149210297
|
|
|
NM_001009944.3(PKD1):c.4475G>C (p.Arg1492Pro)
|
rs757055929
|
|
|
NM_001009944.3(PKD1):c.5037C>A (p.Ser1679Arg)
|
rs144091742
|
|
|
NM_001009944.3(PKD1):c.5092C>T (p.Arg1698Trp)
|
rs141871028
|
|
|
NM_001009944.3(PKD1):c.8666_8674del (p.Ser2889_Ala2891del)
|
rs771434359
|
|
|
NM_001009944.3(PKD1):c.8672CCAACTCCG[1] (p.2891ANS[1])
|
rs763199524
|
|
|
NM_001009944.3(PKD1):c.8672CCAACTCCG[3] (p.2891ANS[3])
|
rs763199524
|
|
|
NM_001009944.3(PKD1):c.8948+28G>T
|
|
|
|
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met)
|
rs775497330
|
|
|
NM_001009999.3(KDM1A):c.1734+4A>G
|
|
|
|
NM_001009999.3(KDM1A):c.30GGC[5] (p.Ala18dup)
|
rs765476443
|
|
|
NM_001009999.3(KDM1A):c.696C>A (p.Phe232Leu)
|
|
|
|
NM_001011.4(RPS7):c.79C>A (p.Leu27Ile)
|
|
|
|
NM_001012339.3(DNAJC21):c.743+10G>A
|
rs371751945
|
|
|
NM_001012759.3(CTU2):c.1509_1512dup (p.Ile505fs)
|
|
|
|
NM_001012759.3(CTU2):c.424T>C (p.Phe142Leu)
|
|
|
|
NM_001013693.3(LDLRAD2):c.*2404C>T
|
|
|
|
NM_001013838.3(CARMIL2):c.1554C>G (p.Asp518Glu)
|
rs200219135
|
|
|
NM_001015878.2(AURKC):c.-99dup
|
rs74179426
|
|
|
NM_001017995.3(SH3PXD2B):c.1063-7G>T
|
rs186443822
|
|
|
NM_001017995.3(SH3PXD2B):c.1063-9_1063-8delinsCT
|
rs797044638
|
|
|
NM_001017995.3(SH3PXD2B):c.1422G>A (p.Pro474=)
|
rs199727236
|
|
|
NM_001017995.3(SH3PXD2B):c.45G>A (p.Val15=)
|
|
|
|
NM_001018005.2(TPM1):c.115-238G>C
|
rs730881126
|
|
|
NM_001018111.3(PODXL):c.70_84del (p.Pro24_Pro28del)
|
|
|
|
NM_001018115.3(FANCD2):c.2022-5C>T
|
rs4019784
|
|
|
NM_001018115.3(FANCD2):c.2613A>C (p.Lys871Asn)
|
rs56041034
|
|
|
NM_001024630.4(RUNX2):c.172CAACAGCAGCAGCAGCAGCAG[1] (p.Gln65_Gln71del)
|
rs774172072
|
|
|
NM_001024630.4(RUNX2):c.174_185dup (p.Gln68_Gln71dup)
|
rs773265213
|
|
|
NM_001024630.4(RUNX2):c.177GCA[7] (p.Gln71dup)
|
rs759395776
|
|
|
NM_001025295.3(IFITM5):c.120G>A (p.Ser40=)
|
rs79625057
|
|
|
NM_001025356.3(ANO6):c.2572G>A (p.Asp858Asn)
|
|
|
|
NM_001025603.2(RFX5):c.859-15C>T
|
rs377295214
|
|
|
NM_001025616.3(ARHGAP24):c.1065G>A (p.Met355Ile)
|
|
|
|
NM_001025616.3(ARHGAP24):c.1442C>T (p.Thr481Met)
|
rs147870358
|
|
|
NM_001029883.3(PCARE):c.2346A>G (p.Gln782=)
|
rs181545106
|
|
|
NM_001029883.3(PCARE):c.2950C>A (p.Arg984=)
|
rs774215025
|
|
|
NM_001029883.3(PCARE):c.3813C>T (p.His1271=)
|
rs369662857
|
|
|
NM_001029883.3(PCARE):c.740T>A (p.Val247Asp)
|
rs77828062
|
|
|
NM_001029896.2(WDR45):c.5C>T (p.Thr2Ile)
|
rs2147817901
|
|
|
NM_001031679.3(MSRB3):c.-118del
|
rs574256598
|
|
|
NM_001031710.3(KLHL7):c.443-10_443-9del
|
rs774048435
|
|
|
NM_001031725.6(DDX59):c.1213A>G (p.Ile405Val)
|
|
|
|
NM_001032221.6(STXBP1):c.144A>C (p.Thr48=)
|
rs1462537561
|
|
|
NM_001032382.2(PQBP1):c.393_413del (p.127GHDKSDR[1])
|
rs782547972
|
|
|
NM_001032386.2(SUOX):c.1636T>A (p.Ter546Arg)
|
rs574353697
|
|
|
NM_001033046.4(CYBC1):c.298+8G>A
|
|
|
|
NM_001033855.3(DCLRE1C):c.1379AAG[2] (p.Glu462del)
|
rs373709012
|
|
|
NM_001033855.3(DCLRE1C):c.1903dup (p.Ser635fs)
|
rs760288938
|
|
|
NM_001034853.2(RPGR):c.1175C>T (p.Pro392Leu)
|
|
|
|
NM_001034853.2(RPGR):c.3183GGA[2] (p.Glu1066del)
|
rs746535151
|
|
|
NM_001035.3(RYR2):c.10838+3C>T
|
rs1417807379
|
|
|
NM_001035.3(RYR2):c.11427G>A (p.Glu3809=)
|
rs553350678
|
|
|
NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del)
|
rs794728838
|
|
|
NM_001035.3(RYR2):c.13476+8_13476+11dup
|
rs864309562
|
|
|
NM_001035.3(RYR2):c.14136C>A (p.Val4712=)
|
rs756435572
|
|
|
NM_001035.3(RYR2):c.14591-9del
|
rs876657987
|
|
|
NM_001035.3(RYR2):c.14756+3G>A
|
rs1057523295
|
|
|
NM_001035.3(RYR2):c.14757-7_14757-6delinsAT
|
rs727504630
|
|
|
NM_001035.3(RYR2):c.19G>A (p.Gly7Ser)
|
rs779910353
|
|
|
NM_001035.3(RYR2):c.2910C>T (p.Tyr970=)
|
rs575899061
|
|
|
NM_001035.3(RYR2):c.309+5G>T
|
rs794728695
|
|
|
NM_001035.3(RYR2):c.3766C>A (p.Pro1256Thr)
|
rs769729405
|
|
|
NM_001035.3(RYR2):c.3808-5G>C
|
rs776405427
|
|
|
NM_001035.3(RYR2):c.4693C>G (p.Pro1565Ala)
|
rs778783933
|
|
|
NM_001035.3(RYR2):c.4734C>T (p.Pro1578=)
|
rs201880756
|
|
|
NM_001035.3(RYR2):c.7035A>T (p.Ala2345=)
|
rs1681182291
|
|
|
NM_001035.3(RYR2):c.7233C>A (p.Ala2411=)
|
rs367994477
|
|
|
NM_001035.3(RYR2):c.7599T>C (p.Pro2533=)
|
rs886046274
|
|
|
NM_001035.3(RYR2):c.8573TGGAGT[1] (p.Leu2860_Glu2861del)
|
rs794728835
|
|
|
NM_001035.3(RYR2):c.9129-7T>C
|
rs1466669135
|
|
|
NM_001035.3(RYR2):c.9318T>A (p.Ser3106=)
|
rs2797436
|
|
|
NM_001035.3(RYR2):c.9601G>A (p.Val3201Met)
|
rs762549821
|
|
|
NM_001037.5(SCN1B):c.522C>A (p.Leu174=)
|
rs35478147
|
|
|
NM_001037333.3(CYFIP2):c.1357-6G>A
|
rs1760439649
|
|
|
NM_001037333.3(CYFIP2):c.229C>T (p.His77Tyr)
|
rs1201497625
|
|
|
NM_001037333.3(CYFIP2):c.2584C>G (p.Arg862Gly)
|
|
|
|
NM_001037333.3(CYFIP2):c.2909-16C>T
|
|
|
|
NM_001038.6(SCNN1A):c.2004dup (p.Pro669fs)
|
rs761663786
|
|
|
NM_001039.4(SCNN1G):c.1550T>C (p.Met517Thr)
|
rs144653364
|
|
|
NM_001039.4(SCNN1G):c.401C>T (p.Ser134Phe)
|
|
|
|
NM_001039141.3(TRIOBP):c.6472+14G>T
|
rs45503898
|
|
|
NM_001039141.3(TRIOBP):c.703C>T (p.Arg235Trp)
|
|
|
|
NM_001039591.3(USP9X):c.2415A>G (p.Gln805=)
|
|
|
|
NM_001039591.3(USP9X):c.3140T>C (p.Met1047Thr)
|
|
|
|
NM_001039591.3(USP9X):c.90G>C (p.Gln30His)
|
|
|
|
NM_001039876.3(SYNE4):c.1025A>G (p.Asn342Ser)
|
rs200948076
|
|
|
NM_001039958.2(MESP2):c.517G>A (p.Ala173Thr)
|
rs374604155
|
|
|
NM_001039958.2(MESP2):c.957G>A (p.Ser319=)
|
rs752665246
|
|
|
NM_001040108.2(MLH3):c.4239A>G (p.Lys1413=)
|
rs975447813
|
|
|
NM_001040113.2(MYH11):c.5818C>G (p.Pro1940Ala)
|
rs200884440
|
|
|
NM_001040113.2(MYH11):c.5819C>G (p.Pro1940Arg)
|
rs111588143
|
|
|
NM_001040113.2(MYH11):c.5819dup (p.Gln1941fs)
|
rs747392139
|
|
|
NM_001040142.2(SCN2A):c.1399G>T (p.Ala467Ser)
|
rs745774658
|
|
|
NM_001040142.2(SCN2A):c.1561G>C (p.Asp521His)
|
rs1574572514
|
|
|
NM_001040142.2(SCN2A):c.1820G>A (p.Arg607Gln)
|
rs755003900
|
|
|
NM_001040142.2(SCN2A):c.1984A>G (p.Thr662Ala)
|
rs796053111
|
|
|
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys)
|
rs200138205
|
|
|
NM_001040142.2(SCN2A):c.81A>G (p.Gln27=)
|
rs1162322343
|
|
|
NM_001040436.3(YARS2):c.*62G>A
|
rs527443669
|
|
|
NM_001040436.3(YARS2):c.780-11T>C
|
|
|
|
NM_001040436.3(YARS2):c.930G>A (p.Pro310=)
|
rs147551647
|
|
|
NM_001040716.2(PC):c.1023-14C>A
|
rs111858832
|
|
|
NM_001040716.2(PC):c.2019C>A (p.Val673=)
|
rs1591119887
|
|
|
NM_001040716.2(PC):c.2285G>A (p.Arg762His)
|
|
|
|
NM_001040716.2(PC):c.2719-5_2719-3del
|
rs566558597
|
|
|
NM_001040716.2(PC):c.3399G>A (p.Lys1133=)
|
rs776825183
|
|
|
NM_001040716.2(PC):c.3531C>T (p.Ile1177=)
|
rs144982348
|
|
|
NM_001041.4(SI):c.636G>A (p.Leu212=)
|
rs145891116
|
|
|
NM_001041.4(SI):c.65T>C (p.Ile22Thr)
|
|
|
|
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn)
|
rs146610181
|
|
|
NM_001042432.2(CLN3):c.537C>G (p.Ala179=)
|
rs147667964
|
|
|
NM_001042472.3(ABHD12):c.405C>A (p.Asp135Glu)
|
rs147070618
|
|
|
NM_001042472.3(ABHD12):c.788-10_788-7del
|
rs565270893
|
|
|
NM_001042472.3(ABHD12):c.951-9_951-6del
|
rs772862920
|
|
|
NM_001042492.3(NF1):c.1185+7G>C
|
rs1322791959
|
|
|
NM_001042492.3(NF1):c.1392+5_1392+6delinsTT
|
rs587782851
|
|
|
NM_001042492.3(NF1):c.1429T>C (p.Phe477Leu)
|
rs1555612276
|
|
|
NM_001042492.3(NF1):c.1528-3C>T
|
rs1060500294
|
|
|
NM_001042492.3(NF1):c.174C>T (p.Leu58=)
|
rs2065657421
|
|
|
NM_001042492.3(NF1):c.1846-8T>A
|
rs886052799
|
|
|
NM_001042492.3(NF1):c.1866T>C (p.Cys622=)
|
rs753245823
|
|
|
NM_001042492.3(NF1):c.1868A>G (p.His623Arg)
|
rs1555613555
|
|
|
NM_001042492.3(NF1):c.2002-4_2002-3del
|
rs786203664
|
|
|
NM_001042492.3(NF1):c.2002-5C>G
|
rs1165625614
|
|
|
NM_001042492.3(NF1):c.2015G>T (p.Gly672Val)
|
rs371817372
|
|
|
NM_001042492.3(NF1):c.2032C>T (p.Pro678Ser)
|
rs758691069
|
|
|
NM_001042492.3(NF1):c.2158C>T (p.Arg720Trp)
|
rs759679443
|
|
|
NM_001042492.3(NF1):c.2244G>A (p.Met748Ile)
|
rs786202478
|
|
|
NM_001042492.3(NF1):c.2250A>G (p.Thr750=)
|
rs876659061
|
|
|
NM_001042492.3(NF1):c.2409+15T>C
|
rs2067039946
|
|
|
NM_001042492.3(NF1):c.241C>A (p.Leu81Ile)
|
rs587782772
|
|
|
NM_001042492.3(NF1):c.2761G>A (p.Val921Met)
|
rs567023433
|
|
|
NM_001042492.3(NF1):c.2851-3del
|
rs876660379
|
|
|
NM_001042492.3(NF1):c.2921A>G (p.Asn974Ser)
|
rs557875547
|
|
|
NM_001042492.3(NF1):c.3171A>G (p.Ala1057=)
|
rs2067102269
|
|
|
NM_001042492.3(NF1):c.3198-5T>G
|
rs587782639
|
|
|
NM_001042492.3(NF1):c.3213A>G (p.Ala1071=)
|
rs786202077
|
|
|
NM_001042492.3(NF1):c.4011G>C (p.Arg1337=)
|
rs2067448681
|
|
|
NM_001042492.3(NF1):c.4332+22_4332+25del
|
rs768273651
|
|
|
NM_001042492.3(NF1):c.4530A>G (p.Leu1510=)
|
rs876660089
|
|
|
NM_001042492.3(NF1):c.4578-8G>C
|
rs375758486
|
|
|
NM_001042492.3(NF1):c.4834A>C (p.Arg1612=)
|
rs755137259
|
|
|
NM_001042492.3(NF1):c.5619C>G (p.Ala1873=)
|
rs786203335
|
|
|
NM_001042492.3(NF1):c.615G>A (p.Lys205=)
|
rs1135402794
|
|
|
NM_001042492.3(NF1):c.64C>T (p.Pro22Ser)
|
rs1597625794
|
|
|
NM_001042492.3(NF1):c.6555G>A (p.Arg2185=)
|
rs786203189
|
|
|
NM_001042492.3(NF1):c.6571T>C (p.Ser2191Pro)
|
rs754630324
|
|
|
NM_001042492.3(NF1):c.6630G>A (p.Leu2210=)
|
rs886052801
|
|
|
NM_001042492.3(NF1):c.6642+11C>G
|
rs375446476
|
|
|
NM_001042492.3(NF1):c.6704+4T>C
|
rs1555534930
|
|
|
NM_001042492.3(NF1):c.6717A>G (p.Gln2239=)
|
rs2069724967
|
|
|
NM_001042492.3(NF1):c.6819+5C>A
|
rs876659499
|
|
|
NM_001042492.3(NF1):c.6820-6T>C
|
rs1597845896
|
|
|
NM_001042492.3(NF1):c.6820-8C>T
|
rs1060503909
|
|
|
NM_001042492.3(NF1):c.6978T>C (p.Asp2326=)
|
rs1135402896
|
|
|
NM_001042492.3(NF1):c.7190-5del
|
rs769290414
|
|
|
NM_001042492.3(NF1):c.7246C>T (p.Leu2416=)
|
rs786201310
|
|
|
NM_001042492.3(NF1):c.7381CTT[2] (p.Leu2463del)
|
rs786203184
|
|
|
NM_001042492.3(NF1):c.7509C>T (p.Tyr2503=)
|
rs1555536359
|
|
|
NM_001042492.3(NF1):c.7807G>C (p.Val2603Leu)
|
rs766135206
|
|
|
NM_001042492.3(NF1):c.7815G>A (p.Leu2605=)
|
rs1555536703
|
|
|
NM_001042492.3(NF1):c.7869A>G (p.Leu2623=)
|
rs876659536
|
|
|
NM_001042492.3(NF1):c.8161-3C>T
|
rs786203684
|
|
|
NM_001042492.3(NF1):c.8222C>T (p.Thr2741Met)
|
rs144178015
|
|
|
NM_001042492.3(NF1):c.8479G>A (p.Ala2827Thr)
|
rs199878086
|
|
|
NM_001042517.2(DIAPH3):c.156G>T (p.Glu52Asp)
|
rs202198529
|
|
|
NM_001042517.2(DIAPH3):c.199C>G (p.Leu67Val)
|
rs373421558
|
|
|
NM_001042517.2(DIAPH3):c.2546del (p.Tyr849fs)
|
|
|
|
NM_001042517.2(DIAPH3):c.3397G>A (p.Ala1133Thr)
|
rs188721921
|
|
|
NM_001042517.2(DIAPH3):c.83_84delinsAA (p.Arg28Gln)
|
rs2138509335
|
|
|
NM_001042545.2(LTBP4):c.56_67dup (p.Leu19_Gln22dup)
|
rs1220133830
|
|
|
NM_001042681.2(RERE):c.1745C>T (p.Ser582Leu)
|
|
|
|
NM_001042681.2(RERE):c.2449_2460dup (p.Pro817_Pro820dup)
|
rs749071713
|
|
|
NM_001042681.2(RERE):c.3570GGAGCG[2] (p.1192RE[4])
|
rs201570536
|
|
|
NM_001042681.2(RERE):c.3588_3593del (p.1192RE[4])
|
|
|
|
NM_001042681.2(RERE):c.3900_3914del (p.Leu1304_Glu1308del)
|
rs779300628
|
|
|
NM_001042750.2(STAG2):c.1822-16TAT[2]
|
rs1356736514
|
|
|
NM_001046.3(SLC12A2):c.288GGC[6] (p.Ala107del)
|
|
|
|
NM_001046.3(SLC12A2):c.300_320del (p.Ala101_Ala107del)
|
|
|
|
NM_001048166.1(STIL):c.2070A>T (p.Ser690=)
|
rs367887740
|
|
|
NM_001048166.1(STIL):c.873-6G>T
|
rs375670720
|
|
|
NM_001048174.2(MUTYH):c.1053G>A (p.Gln351=)
|
rs886046366
|
|
|
NM_001048174.2(MUTYH):c.116-55C>T
|
rs1316542179
|
|
|
NM_001048174.2(MUTYH):c.1239G>A (p.Glu413=)
|
rs587782564
|
|
|
NM_001048174.2(MUTYH):c.1240-8_1240-5del
|
rs781479684
|
|
|
NM_001048174.2(MUTYH):c.1349A>G (p.Gln450Arg)
|
rs774607582
|
|
|
NM_001048174.2(MUTYH):c.1393-11T>G
|
rs868701952
|
|
|
NM_001048174.2(MUTYH):c.1393-4C>G
|
rs1553124158
|
|
|
NM_001048174.2(MUTYH):c.277A>G (p.Met93Val)
|
rs1553129862
|
|
|
NM_001048174.2(MUTYH):c.305-4C>A
|
rs767717597
|
|
|
NM_001048174.2(MUTYH):c.305-4C>G
|
rs767717597
|
|
|
NM_001048174.2(MUTYH):c.493-5A>T
|
rs758377868
|
|
|
NM_001048174.2(MUTYH):c.607-4C>T
|
rs1557474961
|
|
|
NM_001048174.2(MUTYH):c.633A>G (p.Val211=)
|
rs1557474374
|
|
|
NM_001048174.2(MUTYH):c.699G>C (p.Gln233His)
|
rs765339120
|
|
|
NM_001048174.2(MUTYH):c.699G>T (p.Gln233His)
|
rs765339120
|
|
|
NM_001048174.2(MUTYH):c.774G>A (p.Gly258=)
|
rs771290019
|
|
|
NM_001048174.2(MUTYH):c.914-5C>G
|
rs786203632
|
|
|
NM_001048174.2(MUTYH):c.929_930delinsGC (p.Gln310Arg)
|
rs587780083
|
|
|
NM_001061.7(TBXAS1):c.1365-10G>A
|
rs765137338
|
|
|
NM_001065.4(TNFRSF1A):c.1083C>T (p.Ala361=)
|
rs746923911
|
|
|
NM_001065.4(TNFRSF1A):c.472+7G>T
|
rs200194581
|
|
|
NM_001069.3(TUBB2A):c.344C>T (p.Ser115Leu)
|
|
|
|
NM_001077365.2(POMT1):c.1194C>G (p.Pro398=)
|
rs371653610
|
|
|
NM_001077365.2(POMT1):c.1647G>A (p.Glu549=)
|
rs757830349
|
|
|
NM_001077365.2(POMT1):c.57T>C (p.Leu19=)
|
rs886043325
|
|
|
NM_001077418.3(TMEM231):c.927_928inv (p.Asp309_Leu310delinsGluVal)
|
|
|
|
NM_001077525.3(MTMR14):c.1089C>T (p.Ile363=)
|
rs769182078
|
|
|
NM_001077525.3(MTMR14):c.1295-7_1295-5del
|
rs771401637
|
|
|
NM_001077653.2(TBX20):c.1310G>T (p.Arg437Leu)
|
rs375484585
|
|
|
NM_001077653.2(TBX20):c.549C>G (p.Leu183=)
|
rs1463237905
|
|
|
NM_001079.4(ZAP70):c.790+12_790+15dup
|
rs761349565
|
|
|
NM_001079802.2(FKTN):c.*5303dup
|
rs879263714
|
|
|
NM_001079802.2(FKTN):c.1179G>C (p.Leu393=)
|
rs369117043
|
|
|
NM_001079802.2(FKTN):c.1337A>T (p.Asn446Ile)
|
rs374912618
|
|
|
NM_001079802.2(FKTN):c.166-9C>T
|
rs1361772036
|
|
|
NM_001079802.2(FKTN):c.766C>A (p.Arg256=)
|
rs377417974
|
|
|
NM_001079802.2(FKTN):c.911-13A>G
|
rs766103012
|
|
|
NM_001079855.2(GYG2):c.1251+4G>T
|
|
|
|
NM_001079855.2(GYG2):c.1273T>C (p.Ser425Pro)
|
|
|
|
NM_001079855.2(GYG2):c.325-7T>G
|
|
|
|
NM_001079866.2(BCS1L):c.349C>A (p.Arg117=)
|
rs777735526
|
|
|
NM_001079872.2(CUL4B):c.1257-5T>C
|
rs1569390976
|
|
|
NM_001079872.2(CUL4B):c.360CTC[7] (p.Ser128dup)
|
rs754330779
|
|
|
NM_001079872.2(CUL4B):c.920+9G>A
|
|
|
|
NM_001080.3(ALDH5A1):c.102C>G (p.Ala34=)
|
rs779034609
|
|
|
NM_001080414.4(CCDC88C):c.2066C>G (p.Ser689Cys)
|
|
|
|
NM_001080414.4(CCDC88C):c.2365C>T (p.Leu789=)
|
|
|
|
NM_001080414.4(CCDC88C):c.2650G>A (p.Gly884Ser)
|
|
|
|
NM_001080414.4(CCDC88C):c.4538C>T (p.Ser1513Leu)
|
|
|
|
NM_001080414.4(CCDC88C):c.5161G>A (p.Gly1721Arg)
|
|
|
|
NM_001080414.4(CCDC88C):c.5578C>T (p.Arg1860Trp)
|
|
|
|
NM_001080414.4(CCDC88C):c.5975_5976delinsCT (p.Leu1992Pro)
|
rs1555413299
|
|
|
NM_001080414.4(CCDC88C):c.5981G>T (p.Arg1994Leu)
|
|
|
|
NM_001080449.3(DNA2):c.1155A>G (p.Gln385=)
|
rs530452383
|
|
|
NM_001080453.3(INTS1):c.230G>A (p.Arg77His)
|
|
|
|
NM_001080453.3(INTS1):c.6139A>G (p.Met2047Val)
|
|
|
|
NM_001080467.3(MYO5B):c.2004-11_2004-10del
|
rs771242570
|
|
|
NM_001080477.4(TENM3):c.1405G>A (p.Gly469Arg)
|
|
|
|
NM_001080477.4(TENM3):c.1441G>A (p.Gly481Ser)
|
|
|
|
NM_001080477.4(TENM3):c.3331A>G (p.Met1111Val)
|
|
|
|
NM_001080508.3(TBX18):c.1103A>G (p.Asn368Ser)
|
|
|
|
NM_001080508.3(TBX18):c.1390A>C (p.Thr464Pro)
|
|
|
|
NM_001080508.3(TBX18):c.392C>T (p.Thr131Ile)
|
|
|
|
NM_001080517.3(SETD5):c.2324G>A (p.Gly775Asp)
|
rs1453766111
|
|
|
NM_001080517.3(SETD5):c.2406G>T (p.Glu802Asp)
|
|
|
|
NM_001080517.3(SETD5):c.327C>T (p.Cys109=)
|
|
|
|
NM_001080517.3(SETD5):c.330-6C>T
|
rs1448139711
|
|
|
NM_001080517.3(SETD5):c.3862G>A (p.Gly1288Ser)
|
rs755607090
|
|
|
NM_001080517.3(SETD5):c.4243_4244del (p.Pro1415fs)
|
rs775402365
|
|
|
NM_001082538.3(TCTN1):c.699TAA[1] (p.Asn235del)
|
rs797046038
|
|
|
NM_001082971.2(DDC):c.1041+12A>T
|
rs2042651349
|
|
|
NM_001082971.2(DDC):c.316-5G>C
|
rs2044474558
|
|
|
NM_001082971.2(DDC):c.436-6A>G
|
rs770694855
|
|
|
NM_001083116.3(PRF1):c.132C>A (p.Ala44=)
|
rs181323749
|
|
|
NM_001083116.3(PRF1):c.519G>A (p.Thr173=)
|
rs112883709
|
|
|
NM_001083614.2(EARS2):c.1292G>C (p.Gly431Ala)
|
rs112604556
|
|
|
NM_001083614.2(EARS2):c.209G>T (p.Ser70Ile)
|
rs201941745
|
|
|
NM_001083961.2(WDR62):c.1233+15del
|
rs373693641
|
|
|
NM_001083961.2(WDR62):c.1233+15dup
|
rs373693641
|
|
|
NM_001083961.2(WDR62):c.156C>G (p.Ser52=)
|
rs398123559
|
|
|
NM_001083961.2(WDR62):c.1641G>T (p.Thr547=)
|
rs2301734
|
|
|
NM_001083961.2(WDR62):c.1959-10A>C
|
rs767989054
|
|
|
NM_001083961.2(WDR62):c.3162G>A (p.Pro1054=)
|
rs200232641
|
|
|
NM_001083961.2(WDR62):c.3271_3273del (p.His1091del)
|
rs794727435
|
|
|
NM_001083961.2(WDR62):c.3641C>T (p.Thr1214Ile)
|
rs752898108
|
|
|
NM_001083962.2(TCF4):c.413C>G (p.Thr138Ser)
|
rs796053416
|
|
|
NM_001083962.2(TCF4):c.594G>T (p.Ser198=)
|
rs368553922
|
|
|
NM_001083962.2(TCF4):c.939G>A (p.Gly313=)
|
rs1470608351
|
|
|
NM_001083962.2(TCF4):c.990+12T>A
|
rs144346949
|
|
|
NM_001084.5(PLOD3):c.338+5C>G
|
|
|
|
NM_001085049.3(MRAS):c.-7G>A
|
rs368097379
|
|
|
NM_001085049.3(MRAS):c.192C>T (p.Asp64=)
|
|
|
|
NM_001085049.3(MRAS):c.552GAA[4] (p.Lys189del)
|
rs752298978
|
|
|
NM_001085487.3(MYSM1):c.1661+3G>A
|
|
|
|
NM_001089.3(ABCA3):c.115C>G (p.Leu39Val)
|
|
|
|
NM_001089.3(ABCA3):c.1465A>T (p.Met489Leu)
|
rs150543946
|
|
|
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu)
|
rs141621969
|
|
|
NM_001089.3(ABCA3):c.1611+6G>A
|
|
|
|
NM_001093.4(ACACB):c.1467C>A (p.Ile489=)
|
rs555723310
|
|
|
NM_001098175.2(ENTPD1):c.33G>A (p.Gln11=)
|
|
|
|
NM_001098816.3(TENM4):c.5383G>A (p.Val1795Met)
|
|
|
|
NM_001099274.3(TINF2):c.1222-11del
|
rs746206409
|
|
|
NM_001099404.2(SCN5A):c.615T>A (p.Tyr205Ter)
|
rs765669597
|
|
|
NM_001099404.2(SCN5A):c.655C>T (p.Arg219Ter)
|
rs577421914
|
|
|
NM_001099922.3(ALG13):c.2754ACC[11] (p.Pro942_Pro945del)
|
rs750710267
|
|
|
NM_001099922.3(ALG13):c.2754ACC[14] (p.Pro945del)
|
rs750710267
|
|
|
NM_001099922.3(ALG13):c.890G>A (p.Ser297Asn)
|
rs1939938682
|
|
|
NM_001100.4(ACTA1):c.108C>T (p.Ile36=)
|
rs143948837
|
|
|
NM_001100.4(ACTA1):c.1128C>T (p.Cys376=)
|
rs1659932688
|
|
|
NM_001100913.3(PACS2):c.1049C>T (p.Pro350Leu)
|
|
|
|
NM_001100913.3(PACS2):c.2179G>A (p.Ala727Thr)
|
|
|
|
NM_001100913.3(PACS2):c.2692G>C (p.Gly898Arg)
|
rs368316410
|
|
|
NM_001100913.3(PACS2):c.527G>A (p.Ser176Asn)
|
rs782204977
|
|
|
NM_001100913.3(PACS2):c.725C>G (p.Thr242Arg)
|
rs780880602
|
|
|
NM_001101362.3(KBTBD13):c.162C>T (p.Ser54=)
|
rs1162054356
|
|
|
NM_001101362.3(KBTBD13):c.309G>C (p.Ser103=)
|
rs760134475
|
|
|
NM_001101362.3(KBTBD13):c.634_638del (p.Tyr212fs)
|
rs748327666
|
|
|
NM_001101426.4(CRPPA):c.261A>G (p.Val87=)
|
rs886044356
|
|
|
NM_001101426.4(CRPPA):c.360C>G (p.Val120=)
|
rs183141256
|
|
|
NM_001101426.4(CRPPA):c.360C>T (p.Val120=)
|
rs183141256
|
|
|
NM_001103.4(ACTN2):c.1975-6C>A
|
rs201255023
|
|
|
NM_001103.4(ACTN2):c.2587A>C (p.Ile863Leu)
|
rs397516577
|
|
|
NM_001104631.2(PDE4D):c.240_254del (p.Leu81_Pro85del)
|
rs755378627
|
|
|
NM_001105206.3(LAMA4):c.106A>G (p.Ile36Val)
|
rs727503116
|
|
|
NM_001105206.3(LAMA4):c.140C>T (p.Pro47Leu)
|
rs727503115
|
|
|
NM_001105206.3(LAMA4):c.22C>T (p.Arg8Cys)
|
|
|
|
NM_001105206.3(LAMA4):c.2734A>T (p.Thr912Ser)
|
rs863223684
|
|
|
NM_001105206.3(LAMA4):c.3166G>A (p.Gly1056Ser)
|
rs145321940
|
|
|
NM_001105206.3(LAMA4):c.4255T>G (p.Leu1419Val)
|
rs782225670
|
|
|
NM_001110219.3(GJB6):c.111G>A (p.Val37=)
|
rs543659673
|
|
|
NM_001110219.3(GJB6):c.689dup (p.Asn230fs)
|
rs398124237
|
|
|
NM_001110556.2(FLNA):c.1246G>C (p.Val416Leu)
|
|
|
|
NM_001110556.2(FLNA):c.1691+6G>A
|
rs1557178889
|
|
|
NM_001110556.2(FLNA):c.1997C>T (p.Ala666Val)
|
rs374295965
|
|
|
NM_001110556.2(FLNA):c.2405-8_2405-5dup
|
rs782040815
|
|
|
NM_001110556.2(FLNA):c.25G>T (p.Gly9Cys)
|
rs782292045
|
|
|
NM_001110556.2(FLNA):c.2826+7A>G
|
rs782545599
|
|
|
NM_001110556.2(FLNA):c.3637G>A (p.Gly1213Ser)
|
|
|
|
NM_001110556.2(FLNA):c.3965C>T (p.Thr1322Met)
|
|
|
|
NM_001110556.2(FLNA):c.7092C>A (p.Ile2364=)
|
rs782591917
|
|
|
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)
|
|
|
|
NM_001110556.2(FLNA):c.7645G>T (p.Ala2549Ser)
|
rs1557175287
|
|
|
NM_001110792.2(MECP2):c.*122del
|
rs267608342
|
|
|
NM_001110792.2(MECP2):c.1168G>T (p.Ala390Ser)
|
rs587783106
|
|
|
NM_001110792.2(MECP2):c.1169C>G (p.Ala390Gly)
|
rs201314910
|
|
|
NM_001110792.2(MECP2):c.1198_1215del (p.Pro400_Pro405del)
|
rs267608406
|
|
|
NM_001110792.2(MECP2):c.1199_1252del (p.Pro400_Pro417del)
|
rs1557135234
|
|
|
NM_001110792.2(MECP2):c.1200A>C (p.Pro400=)
|
rs797044732
|
|
|
NM_001110792.2(MECP2):c.1200_1244del (p.Pro401_Pro415del)
|
rs267608605
|
|
|
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu)
|
rs61753014
|
|
|
NM_001110792.2(MECP2):c.1244C>G (p.Pro415Arg)
|
rs587783107
|
|
|
NM_001110792.2(MECP2):c.1255G>A (p.Asp419Asn)
|
rs2065910235
|
|
|
NM_001110792.2(MECP2):c.1273T>C (p.Cys425Arg)
|
rs797045692
|
|
|
NM_001110792.2(MECP2):c.1351G>T (p.Ala451Ser)
|
rs61753973
|
|
|
NM_001110792.2(MECP2):c.1448G>C (p.Arg483Thr)
|
rs1057520310
|
|
|
NM_001110792.2(MECP2):c.1458T>C (p.Pro486=)
|
rs1557134910
|
|
|
NM_001110792.2(MECP2):c.33AGG[7] (p.Gly15_Gly16dup)
|
rs587783744
|
|
|
NM_001110792.2(MECP2):c.413+6_413+9del
|
rs267608459
|
|
|
NM_001110792.2(MECP2):c.564C>G (p.Pro188=)
|
rs61754420
|
|
|
NM_001110792.2(MECP2):c.6CGC[3] (p.Ala6_Ala8del)
|
rs398123566
|
|
|
NM_001110792.2(MECP2):c.6CGC[7] (p.Ala8dup)
|
rs398123566
|
|
|
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup)
|
rs398123566
|
|
|
NM_001110792.2(MECP2):c.784C>T (p.Arg262Cys)
|
rs141382970
|
|
|
NM_001110792.2(MECP2):c.785G>A (p.Arg262His)
|
rs61750227
|
|
|
NM_001110792.2(MECP2):c.972C>T (p.Val324=)
|
rs398124188
|
|
|
NM_001111067.4(ACVR1):c.115G>A (p.Gly39Ser)
|
|
|
|
NM_001111125.3(IQSEC2):c.2670C>T (p.Leu890=)
|
rs2074317922
|
|
|
NM_001112704.2(VAX1):c.375G>C (p.Val125=)
|
rs753533789
|
|
|
NM_001113378.2(FANCI):c.3059-11C>T
|
rs2054667046
|
|
|
NM_001113378.2(FANCI):c.669+17_669+18del
|
rs751881445
|
|
|
NM_001113491.2(SEPTIN9):c.353_354delinsCC (p.Gln118Pro)
|
rs1555659856
|
|
|
NM_001113491.2(SEPTIN9):c.449C>T (p.Thr150Met)
|
|
|
|
NM_001113491.2(SEPTIN9):c.791C>T (p.Ala264Val)
|
rs745391514
|
|
|
NM_001113525.2(ZNF276):c.*1314C>T
|
rs2062071481
|
|
|
NM_001113525.2(ZNF276):c.*732G>A
|
rs775180524
|
|
|
NM_001114134.2(EPB42):c.2044G>A (p.Val682Ile)
|
|
|
|
NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly)
|
rs751787590
|
|
|
NM_001114753.3(ENG):c.1429-8C>G
|
rs376169815
|
|
|
NM_001114753.3(ENG):c.220-6C>A
|
rs756342212
|
|
|
NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr)
|
rs1060501425
|
|
|
NM_001122630.2(CDKN1C):c.455_472del (p.Ala152_Pro157del)
|
rs1554937999
|
|
|
NM_001122630.2(CDKN1C):c.487GCGGTC[3] (p.163AV[3])
|
rs889984547
|
|
|
NM_001122630.2(CDKN1C):c.522TCCGGC[2] (p.168AP[7])
|
rs878853632
|
|
|
NM_001122630.2(CDKN1C):c.525_548del (p.168_169AP[4])
|
rs878853630
|
|
|
NM_001122630.2(CDKN1C):c.573GGCCCC[5] (p.186AP[11])
|
rs759134767
|
|
|
NM_001122659.3(EDNRB):c.778G>A (p.Val260Ile)
|
rs77132068
|
|
|
NM_001122681.2(SH3BP2):c.750T>A (p.Ala250=)
|
rs231399
|
|
|
NM_001122752.2(SERPINI1):c.1067-6C>T
|
rs759360650
|
|
|
NM_001122769.3(LCA5):c.1769A>G (p.Asp590Gly)
|
rs771460783
|
|
|
NM_001122955.4(BSCL2):c.1005+4G>T
|
rs367731146
|
|
|
NM_001122955.4(BSCL2):c.1006-8C>T
|
rs1057521013
|
|
|
NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1])
|
rs747175358
|
|
|
NM_001123385.2(BCOR):c.3305T>C (p.Val1102Ala)
|
rs111622737
|
|
|
NM_001126049.2(KLLN):c.-1007C>G
|
rs587780001
|
|
|
NM_001126049.2(KLLN):c.-1007C>T
|
rs587780001
|
|
|
NM_001126049.2(KLLN):c.-1046C>T
|
rs1394545143
|
|
|
NM_001126049.2(KLLN):c.-794_-783del
|
rs587781340
|
|
|
NM_001126049.2(KLLN):c.-812G>A
|
rs587779981
|
|
|
NM_001126049.2(KLLN):c.-925A>T
|
rs1475727264
|
|
|
NM_001126108.2(SLC12A3):c.1176C>A (p.Thr392=)
|
rs117440321
|
|
|
NM_001126108.2(SLC12A3):c.2563A>C (p.Arg855=)
|
rs191194366
|
|
|
NM_001126108.2(SLC12A3):c.2720+8C>T
|
rs957373573
|
|
|
NM_001126108.2(SLC12A3):c.741+8C>G
|
rs200257610
|
|
|
NM_001126108.2(SLC12A3):c.741+8C>T
|
rs200257610
|
|
|
NM_001127178.3(PIGG):c.1428T>C (p.Phe476=)
|
rs766083746
|
|
|
NM_001127178.3(PIGG):c.846C>A (p.Thr282=)
|
rs144638389
|
|
|
NM_001127208.3(TET2):c.2429A>G (p.Gln810Arg)
|
rs28555446
|
|
|
NM_001127222.2(CACNA1A):c.2255C>A (p.Ser752Tyr)
|
rs535900273
|
|
|
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4])
|
rs764399373
|
|
|
NM_001127222.2(CACNA1A):c.3090-5C>T
|
rs976595665
|
|
|
NM_001127222.2(CACNA1A):c.3265G>A (p.Gly1089Ser)
|
rs201311000
|
|
|
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg)
|
rs200333359
|
|
|
NM_001127222.2(CACNA1A):c.3525A>C (p.Pro1175=)
|
rs886044439
|
|
|
NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=)
|
rs184723350
|
|
|
NM_001127222.2(CACNA1A):c.4290G>T (p.Ala1430=)
|
rs555959123
|
|
|
NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=)
|
rs757291476
|
|
|
NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys)
|
rs554393704
|
|
|
NM_001127222.2(CACNA1A):c.6630CCA[10] (p.His2219dup)
|
rs759331923
|
|
|
NM_001127222.2(CACNA1A):c.6630CCA[5] (p.His2216_His2219del)
|
rs759331923
|
|
|
NM_001127222.2(CACNA1A):c.6630CCA[6] (p.His2217_His2219del)
|
rs759331923
|
|
|
NM_001127222.2(CACNA1A):c.6653_6658del (p.His2218_His2219del)
|
rs774721955
|
|
|
NM_001127222.2(CACNA1A):c.6657delinsCCAC (p.His2219dup)
|
rs1057518615
|
|
|
NM_001127222.2(CACNA1A):c.6657delinsCCACCAC (p.His2218_His2219dup)
|
rs1057518615
|
|
|
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup)
|
rs768950814
|
|
|
NM_001127222.2(CACNA1A):c.6680G>A (p.Arg2227His)
|
rs1064793075
|
|
|
NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del)
|
rs374353052
|
|
|
NM_001127453.2(GSDME):c.991T>C (p.Cys331Arg)
|
rs373787249
|
|
|
NM_001127496.3(SPRY4):c.772G>A (p.Val258Met)
|
|
|
|
NM_001127511.3(APC):c.-131G>C
|
rs572582235
|
|
|
NM_001127644.2(GABRA1):c.*304del
|
rs547262225
|
|
|
NM_001127644.2(GABRA1):c.-117GACTCG[3]
|
rs527890421
|
|
|
NM_001127644.2(GABRA1):c.39C>G (p.Ala13=)
|
rs1581175017
|
|
|
NM_001127644.2(GABRA1):c.439C>T (p.Arg147Trp)
|
rs139163545
|
|
|
NM_001127649.3(PEX26):c.99G>C (p.Pro33=)
|
rs1284941471
|
|
|
NM_001127671.2(LIFR):c.1245G>A (p.Pro415=)
|
rs139809889
|
|
|
NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys)
|
rs3729751
|
|
|
NM_001127895.2(CHST8):c.229C>T (p.Arg77Trp)
|
rs149660944
|
|
|
NM_001128159.3(VPS53):c.2458C>G (p.Arg820Gly)
|
rs561656938
|
|
|
NM_001128164.2(ATXN1):c.588GCA[12] (p.Gln208del)
|
rs193922926
|
|
|
NM_001128178.3(NPHP1):c.1530-10del
|
rs779032904
|
|
|
NM_001128178.3(NPHP1):c.1950G>A (p.Leu650=)
|
rs144850331
|
|
|
NM_001128178.3(NPHP1):c.415GAAGAG[1] (p.Glu141_Glu142del)
|
rs777574728
|
|
|
NM_001128178.3(NPHP1):c.728+9G>A
|
rs1280756117
|
|
|
NM_001128178.3(NPHP1):c.771+58C>A
|
rs367600757
|
|
|
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met)
|
rs140574574
|
|
|
NM_001128228.3(TPRN):c.1712C>G (p.Ser571Cys)
|
rs140967677
|
|
|
NM_001128228.3(TPRN):c.1845AGAGGA[3] (p.Glu620_Glu621dup)
|
rs750560040
|
|
|
NM_001128228.3(TPRN):c.474GCC[3] (p.Pro162_Pro164del)
|
rs957768814
|
|
|
NM_001128425.2(MUTYH):c.188G>A (p.Gly63Glu)
|
rs763693540
|
|
|
NM_001128425.2(MUTYH):c.192C>T (p.Ala64=)
|
rs760321509
|
|
|
NM_001128431.4(SLC39A14):c.24G>T (p.Pro8=)
|
rs112568651
|
|
|
NM_001128840.3(CACNA1D):c.2414T>C (p.Ile805Thr)
|
rs147933585
|
|
|
NM_001128840.3(CACNA1D):c.2751+14G>T
|
rs748663117
|
|
|
NM_001128840.3(CACNA1D):c.2919-6C>T
|
|
|
|
NM_001128840.3(CACNA1D):c.3376G>T (p.Val1126Leu)
|
|
|
|
NM_001128840.3(CACNA1D):c.3701A>G (p.Asn1234Ser)
|
rs147146258
|
|
|
NM_001128840.3(CACNA1D):c.3789G>T (p.Gly1263=)
|
|
|
|
NM_001128840.3(CACNA1D):c.5016AGA[3] (p.Glu1675del)
|
rs778776240
|
|
|
NM_001128840.3(CACNA1D):c.5814G>T (p.Pro1938=)
|
rs776968811
|
|
|
NM_001128840.3(CACNA1D):c.5936G>A (p.Arg1979Gln)
|
rs143354476
|
|
|
NM_001128840.3(CACNA1D):c.6341G>T (p.Arg2114Leu)
|
rs149416995
|
|
|
NM_001130004.2(ACTN1):c.762+6C>T
|
|
|
|
NM_001130009.3(GEN1):c.1735G>A (p.Val579Met)
|
|
|
|
NM_001130144.3(LTBP3):c.2058C>A (p.Asn686Lys)
|
rs376337792
|
|
|
NM_001130144.3(LTBP3):c.76CTG[13] (p.Leu33_Leu35dup)
|
rs71036212
|
|
|
NM_001130438.3(SPTAN1):c.1528G>A (p.Glu510Lys)
|
rs769320860
|
|
|
NM_001130438.3(SPTAN1):c.3580-5_3580-2del
|
rs754528571
|
|
|
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=)
|
rs72758823
|
|
|
NM_001130438.3(SPTAN1):c.7102G>C (p.Glu2368Gln)
|
rs796053329
|
|
|
NM_001130438.3(SPTAN1):c.862G>C (p.Ala288Pro)
|
rs796053298
|
|
|
NM_001130698.2(TRPC3):c.1156A>G (p.Ile386Val)
|
|
|
|
NM_001130698.2(TRPC3):c.1285G>A (p.Val429Met)
|
|
|
|
NM_001130698.2(TRPC3):c.1312A>T (p.Ile438Phe)
|
|
|
|
NM_001130823.3(DNMT1):c.1171-7C>T
|
rs1168540279
|
|
|
NM_001130823.3(DNMT1):c.3524-5G>T
|
|
|
|
NM_001130823.3(DNMT1):c.410C>T (p.Thr137Met)
|
rs377146699
|
|
|
NM_001130987.2(DYSF):c.1215C>T (p.Gly405=)
|
rs754820811
|
|
|
NM_001130987.2(DYSF):c.1371G>A (p.Ala457=)
|
rs140667960
|
|
|
NM_001130987.2(DYSF):c.1374G>T (p.Gly458=)
|
rs771092045
|
|
|
NM_001130987.2(DYSF):c.1518C>A (p.Ile506=)
|
rs34387018
|
|
|
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu)
|
rs546679270
|
|
|
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=)
|
rs115849497
|
|
|
NM_001130987.2(DYSF):c.1944G>T (p.Pro648=)
|
rs115849497
|
|
|
NM_001130987.2(DYSF):c.1985-15G>A
|
rs146407633
|
|
|
NM_001130987.2(DYSF):c.2093G>T (p.Gly698Val)
|
rs770228554
|
|
|
NM_001130987.2(DYSF):c.2865-7_2865-5del
|
rs761299898
|
|
|
NM_001130987.2(DYSF):c.3072T>A (p.Ala1024=)
|
rs2092344930
|
|
|
NM_001130987.2(DYSF):c.3552G>A (p.Ala1184=)
|
rs201319864
|
|
|
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=)
|
rs79899601
|
|
|
NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met)
|
rs148858485
|
|
|
NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=)
|
rs148858485
|
|
|
NM_001130987.2(DYSF):c.378G>T (p.Pro126=)
|
rs377056951
|
|
|
NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln)
|
rs139654844
|
|
|
NM_001130987.2(DYSF):c.4461C>T (p.Ile1487=)
|
rs751456837
|
|
|
NM_001130987.2(DYSF):c.4982C>T (p.Thr1661Met)
|
rs144383140
|
|
|
NM_001130987.2(DYSF):c.4983G>T (p.Thr1661=)
|
rs142301132
|
|
|
NM_001130987.2(DYSF):c.5784+10C>T
|
rs758268866
|
|
|
NM_001130987.2(DYSF):c.603G>A (p.Glu201=)
|
rs765064954
|
|
|
NM_001130987.2(DYSF):c.605C>T (p.Ala202Val)
|
rs34999029
|
|
|
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup)
|
rs397516593
|
|
|
NM_001134363.3(RBM20):c.132_149dup (p.44PPPPPQ[3])
|
rs1204097562
|
|
|
NM_001134363.3(RBM20):c.1356A>T (p.Ile452=)
|
rs745544964
|
|
|
NM_001134363.3(RBM20):c.1766G>A (p.Arg589Gln)
|
rs368716639
|
|
|
NM_001134363.3(RBM20):c.1880+4_1880+6dup
|
rs397516597
|
|
|
NM_001134363.3(RBM20):c.201G>A (p.Lys67=)
|
rs752370319
|
|
|
NM_001134363.3(RBM20):c.2213C>T (p.Pro738Leu)
|
rs397516601
|
|
|
NM_001134363.3(RBM20):c.2565_2570del (p.Gln856_Glu857del)
|
rs397516603
|
|
|
NM_001134363.3(RBM20):c.2704C>A (p.Pro902Thr)
|
|
|
|
NM_001134363.3(RBM20):c.2868C>A (p.Asp956Glu)
|
rs1554843535
|
|
|
NM_001134363.3(RBM20):c.2989G>A (p.Val997Met)
|
rs372370653
|
|
|
NM_001134363.3(RBM20):c.3047G>C (p.Gly1016Ala)
|
rs540014314
|
|
|
NM_001134363.3(RBM20):c.3262C>G (p.Pro1088Ala)
|
rs969716149
|
|
|
NM_001134363.3(RBM20):c.3265C>A (p.Pro1089Thr)
|
rs147356378
|
|
|
NM_001134363.3(RBM20):c.3331G>T (p.Val1111Leu)
|
rs77110978
|
|
|
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr)
|
rs753102653
|
|
|
NM_001134363.3(RBM20):c.364C>A (p.Gln122Lys)
|
rs727504583
|
|
|
NM_001134363.3(RBM20):c.785C>G (p.Thr262Ser)
|
rs758718732
|
|
|
NM_001134407.3(GRIN2A):c.1074C>G (p.His358Gln)
|
rs763315364
|
|
|
NM_001134407.3(GRIN2A):c.1777+6G>T
|
rs76549675
|
|
|
NM_001134407.3(GRIN2A):c.2049G>C (p.Gly683=)
|
rs1057523027
|
|
|
NM_001134407.3(GRIN2A):c.2494C>T (p.Leu832Phe)
|
rs145495027
|
|
|
NM_001134407.3(GRIN2A):c.288C>G (p.His96Gln)
|
rs74853460
|
|
|
NM_001134407.3(GRIN2A):c.3211C>T (p.His1071Tyr)
|
rs1555482611
|
|
|
NM_001134407.3(GRIN2A):c.3544G>T (p.Asp1182Tyr)
|
rs375160358
|
|
|
NM_001134407.3(GRIN2A):c.3668C>G (p.Thr1223Ser)
|
rs770966136
|
|
|
NM_001134407.3(GRIN2A):c.3854G>T (p.Arg1285Met)
|
rs367543132
|
|
|
NM_001134407.3(GRIN2A):c.4006C>T (p.Leu1336Phe)
|
|
|
|
NM_001134407.3(GRIN2A):c.67_81del (p.Pro23_Ala27del)
|
rs775540481
|
|
|
NM_001134673.4(NFIA):c.1255-6_1255-5insGC
|
rs1553183280
|
|
|
NM_001134673.4(NFIA):c.1255-8_1255-7insGC
|
|
|
|
NM_001134831.2(AHI1):c.2961+7_2961+21delinsGACTTTTTTAAAGTTTTAAA
|
rs786200964
|
|
|
NM_001135254.2(PAX7):c.1375G>A (p.Gly459Ser)
|
|
|
|
NM_001136139.4(TCF3):c.1700G>A (p.Arg567Gln)
|
rs1555712474
|
|
|
NM_001136193.2(FASTKD2):c.1207C>G (p.Leu403Val)
|
|
|
|
NM_001136193.2(FASTKD2):c.1587G>C (p.Leu529=)
|
|
|
|
NM_001139.3(ALOX12B):c.1566G>T (p.Pro522=)
|
rs936466427
|
|
|
NM_001142301.1(TMEM67):c.2522-6del
|
rs747342409
|
|
|
NM_001142730.3(KCTD1):c.2133+4A>G
|
|
|
|
NM_001142800.2(EYS):c.-350G>A
|
rs886061687
|
|
|
NM_001142800.2(EYS):c.1698T>C (p.Asn566=)
|
rs1156347961
|
|
|
NM_001142800.2(EYS):c.33G>C (p.Leu11=)
|
rs777361054
|
|
|
NM_001142800.2(EYS):c.5600C>T (p.Ser1867Phe)
|
rs542339299
|
|
|
NM_001142800.2(EYS):c.7260C>T (p.Gly2420=)
|
rs1770908773
|
|
|
NM_001142800.2(EYS):c.7579-11dup
|
rs1044534941
|
|
|
NM_001142800.2(EYS):c.9156T>C (p.Asn3052=)
|
rs1768354975
|
|
|
NM_001142864.4(PIEZO1):c.1107+6C>T
|
|
|
|
NM_001142864.4(PIEZO1):c.1187G>A (p.Arg396Gln)
|
|
|
|
NM_001142864.4(PIEZO1):c.1211C>T (p.Ala404Val)
|
|
|
|
NM_001142864.4(PIEZO1):c.2181-14G>A
|
|
|
|
NM_001142864.4(PIEZO1):c.2233CAG[6] (p.Gln749_Glu750insGln)
|
|
|
|
NM_001142864.4(PIEZO1):c.2245_2250del (p.Gln749_Glu750del)
|
rs144269709
|
|
|
NM_001142864.4(PIEZO1):c.2247GGA[10] (p.Glu756_Asp757insGluGlu)
|
|
|
|
NM_001142864.4(PIEZO1):c.2247GGA[9] (p.Glu756dup)
|
rs59446030
|
|
|
NM_001142864.4(PIEZO1):c.2248G>C (p.Glu750Gln)
|
|
|
|
NM_001142864.4(PIEZO1):c.2545C>T (p.Arg849Cys)
|
|
|
|
NM_001142864.4(PIEZO1):c.2697G>T (p.Thr899=)
|
|
|
|
NM_001142864.4(PIEZO1):c.2982C>G (p.Phe994Leu)
|
rs374262841
|
|
|
NM_001142864.4(PIEZO1):c.3626G>A (p.Arg1209Gln)
|
|
|
|
NM_001142864.4(PIEZO1):c.3969-8C>G
|
|
|
|
NM_001142864.4(PIEZO1):c.463C>T (p.Leu155=)
|
|
|
|
NM_001142864.4(PIEZO1):c.4776T>C (p.Ser1592=)
|
|
|
|
NM_001142864.4(PIEZO1):c.4820T>C (p.Met1607Thr)
|
|
|
|
NM_001142864.4(PIEZO1):c.4969C>T (p.Pro1657Ser)
|
rs763940836
|
|
|
NM_001142864.4(PIEZO1):c.5393C>T (p.Ser1798Phe)
|
|
|
|
NM_001142864.4(PIEZO1):c.5827C>T (p.Arg1943Trp)
|
|
|
|
NM_001142864.4(PIEZO1):c.5920A>G (p.Ile1974Val)
|
|
|
|
NM_001142864.4(PIEZO1):c.6494AGA[4] (p.Lys2169del)
|
rs763477215
|
|
|
NM_001142864.4(PIEZO1):c.6886A>C (p.Thr2296Pro)
|
|
|
|
NM_001142864.4(PIEZO1):c.7007G>A (p.Arg2336Gln)
|
|
|
|
NM_001142864.4(PIEZO1):c.7234C>G (p.Arg2412Gly)
|
rs577922766
|
|
|
NM_001142864.4(PIEZO1):c.7472_7477dup (p.Arg2491_Glu2492dup)
|
rs755226463
|
|
|
NM_001143979.2(NDE1):c.-165-12_-165-9del
|
rs757466932
|
|
|
NM_001143992.2(WRAP53):c.729C>A (p.Ser243=)
|
rs570343418
|
|
|
NM_001144967.3(NEDD4L):c.1402C>T (p.Arg468Trp)
|
rs1199827684
|
|
|
NM_001145026.2(PTPRQ):c.5248A>G (p.Thr1750Ala)
|
|
|
|
NM_001145026.2(PTPRQ):c.6116A>G (p.Tyr2039Cys)
|
|
|
|
NM_001145358.2(SIN3A):c.2564A>G (p.Asn855Ser)
|
|
|
|
NM_001145715.3(KPNA7):c.865G>C (p.Val289Leu)
|
rs191355534
|
|
|
NM_001145809.2(MYH14):c.1625T>G (p.Leu542Arg)
|
rs727504564
|
|
|
NM_001145809.2(MYH14):c.2599C>T (p.Arg867Cys)
|
rs753356694
|
|
|
NM_001145809.2(MYH14):c.4539+14G>A
|
rs779431768
|
|
|
NM_001145809.2(MYH14):c.594A>T (p.Gly198=)
|
rs1195002362
|
|
|
NM_001148.6(ANK2):c.10362G>C (p.Arg3454Ser)
|
rs55726422
|
|
|
NM_001148.6(ANK2):c.10685C>T (p.Pro3562Leu)
|
rs779374859
|
|
|
NM_001148.6(ANK2):c.10976G>A (p.Arg3659His)
|
rs556640912
|
|
|
NM_001148.6(ANK2):c.10976G>T (p.Arg3659Leu)
|
rs556640912
|
|
|
NM_001148.6(ANK2):c.11198_11200del (p.Gly3733del)
|
rs730880049
|
|
|
NM_001148.6(ANK2):c.11522C>T (p.Pro3841Leu)
|
rs767769233
|
|
|
NM_001148.6(ANK2):c.2460CAC[4] (p.Thr826del)
|
rs770530257
|
|
|
NM_001148.6(ANK2):c.3255G>A (p.Ala1085=)
|
rs56173868
|
|
|
NM_001148.6(ANK2):c.4371+19T>C
|
rs1057522286
|
|
|
NM_001148.6(ANK2):c.4555G>T (p.Ala1519Ser)
|
rs200920714
|
|
|
NM_001148.6(ANK2):c.4940G>A (p.Cys1647Tyr)
|
rs2095548237
|
|
|
NM_001148.6(ANK2):c.5231C>A (p.Ala1744Asp)
|
rs147706514
|
|
|
NM_001148.6(ANK2):c.7054_7059del (p.Gly2352_Gln2353del)
|
rs774514148
|
|
|
NM_001148.6(ANK2):c.7084A>G (p.Lys2362Glu)
|
|
|
|
NM_001148.6(ANK2):c.7106T>G (p.Val2369Gly)
|
rs28377576
|
|
|
NM_001148.6(ANK2):c.7706_7707inv (p.Ala2569Val)
|
|
|
|
NM_001148.6(ANK2):c.7942G>C (p.Gly2648Arg)
|
rs199828363
|
|
|
NM_001148.6(ANK2):c.7985C>T (p.Ser2662Phe)
|
rs1564029811
|
|
|
NM_001148.6(ANK2):c.8140G>A (p.Val2714Ile)
|
rs753223319
|
|
|
NM_001148.6(ANK2):c.8381A>G (p.Gln2794Arg)
|
rs528909081
|
|
|
NM_001148.6(ANK2):c.9590A>G (p.Asp3197Gly)
|
|
|
|
NM_001148.6(ANK2):c.9991T>C (p.Ser3331Pro)
|
|
|
|
NM_001159699.2(FHL1):c.737-9del
|
rs374867802
|
|
|
NM_001159699.2(FHL1):c.817G>C (p.Val273Leu)
|
rs190006104
|
|
|
NM_001159773.2(CANT1):c.1026C>T (p.His342=)
|
rs755288092
|
|
|
NM_001160036.2(RHOBTB2):c.20G>A (p.Gly7Asp)
|
rs186695833
|
|
|
NM_001160372.4(TRAPPC9):c.1326G>A (p.Ser442=)
|
rs145960296
|
|
|
NM_001160372.4(TRAPPC9):c.2279-11del
|
rs758850777
|
|
|
NM_001160372.4(TRAPPC9):c.2475G>A (p.Arg825=)
|
rs756688439
|
|
|
NM_001160372.4(TRAPPC9):c.269A>G (p.Lys90Arg)
|
rs550423753
|
|
|
NM_001161352.2(KCNMA1):c.117CTC[5] (p.Ser59_Ser60del)
|
rs572827902
|
|
|
NM_001161352.2(KCNMA1):c.15_16insAGC (p.Gly5_Gly6insSer)
|
rs780558929
|
|
|
NM_001161352.2(KCNMA1):c.1929T>C (p.Arg643=)
|
rs1064797145
|
|
|
NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del)
|
rs1484259264
|
|
|
NM_001161352.2(KCNMA1):c.3697G>A (p.Glu1233Lys)
|
rs779739159
|
|
|
NM_001161352.2(KCNMA1):c.36CGG[10] (p.Gly18_Gly20dup)
|
rs760628050
|
|
|
NM_001161352.2(KCNMA1):c.36CGG[8] (p.Gly20dup)
|
rs760628050
|
|
|
NM_001163809.2(WDR81):c.3854C>T (p.Pro1285Leu)
|
rs199995527
|
|
|
NM_001164277.2(SLC37A4):c.1125-14T>C
|
rs1555190405
|
|
|
NM_001164277.2(SLC37A4):c.1125-6T>G
|
rs782323567
|
|
|
NM_001164277.2(SLC37A4):c.149-11G>A
|
rs1555191644
|
|
|
NM_001164277.2(SLC37A4):c.611C>T (p.Ser204Phe)
|
rs567419206
|
|
|
NM_001164277.2(SLC37A4):c.872-10G>A
|
rs1555190776
|
|
|
NM_001164277.2(SLC37A4):c.872-15_872-9dup
|
rs782321213
|
|
|
NM_001164277.2(SLC37A4):c.891G>T (p.Gly297=)
|
rs1388277495
|
|
|
NM_001164277.2(SLC37A4):c.986-14T>G
|
rs863224211
|
|
|
NM_001164508.2(NEB):c.10462C>T (p.Arg3488Cys)
|
rs765175171
|
|
|
NM_001164508.2(NEB):c.1074A>G (p.Lys358=)
|
rs2099709094
|
|
|
NM_001164508.2(NEB):c.11563G>A (p.Val3855Ile)
|
rs542092706
|
|
|
NM_001164508.2(NEB):c.11602-13A>T
|
rs886054941
|
|
|
NM_001164508.2(NEB):c.11755G>T (p.Asp3919Tyr)
|
rs201483656
|
|
|
NM_001164508.2(NEB):c.1227C>G (p.Leu409=)
|
rs371658494
|
|
|
NM_001164508.2(NEB):c.12369C>G (p.Ile4123Met)
|
rs1277282343
|
|
|
NM_001164508.2(NEB):c.12369C>T (p.Ile4123=)
|
rs1277282343
|
|
|
NM_001164508.2(NEB):c.12535-10C>T
|
rs2097760296
|
|
|
NM_001164508.2(NEB):c.12615C>T (p.His4205=)
|
rs1579048021
|
|
|
NM_001164508.2(NEB):c.12723G>A (p.Lys4241=)
|
rs772682280
|
|
|
NM_001164508.2(NEB):c.12873G>A (p.Lys4291=)
|
rs1578940609
|
|
|
NM_001164508.2(NEB):c.12999G>A (p.Thr4333=)
|
rs1384738774
|
|
|
NM_001164508.2(NEB):c.13056C>T (p.Ser4352=)
|
rs1468240932
|
|
|
NM_001164508.2(NEB):c.13218C>A (p.Thr4406=)
|
rs1553867144
|
|
|
NM_001164508.2(NEB):c.13236A>G (p.Ala4412=)
|
rs1578890458
|
|
|
NM_001164508.2(NEB):c.13276G>A (p.Asp4426Asn)
|
rs876657540
|
|
|
NM_001164508.2(NEB):c.13327C>T (p.Leu4443=)
|
rs1578872999
|
|
|
NM_001164508.2(NEB):c.13477-7C>T
|
rs1328191142
|
|
|
NM_001164508.2(NEB):c.1366-4A>G
|
rs886038438
|
|
|
NM_001164508.2(NEB):c.13785C>T (p.Ser4595=)
|
rs1578800572
|
|
|
NM_001164508.2(NEB):c.1434A>G (p.Glu478=)
|
rs2149351968
|
|
|
NM_001164508.2(NEB):c.15237A>G (p.Leu5079=)
|
rs1057522592
|
|
|
NM_001164508.2(NEB):c.153_167dup (p.52LAQPA[3])
|
rs757726895
|
|
|
NM_001164508.2(NEB):c.15445A>T (p.Ser5149Cys)
|
rs1057521769
|
|
|
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[3] (p.52LAQPA[3])
|
rs377452683
|
|
|
NM_001164508.2(NEB):c.17198G>A (p.Arg5733His)
|
rs371681892
|
|
|
NM_001164508.2(NEB):c.17491G>A (p.Val5831Met)
|
rs772168965
|
|
|
NM_001164508.2(NEB):c.17619C>T (p.Gly5873=)
|
rs767518298
|
|
|
NM_001164508.2(NEB):c.17681T>C (p.Leu5894Pro)
|
rs201072996
|
|
|
NM_001164508.2(NEB):c.17931T>C (p.Phe5977=)
|
rs886054938
|
|
|
NM_001164508.2(NEB):c.18064A>G (p.Ile6022Val)
|
rs574746662
|
|
|
NM_001164508.2(NEB):c.18408T>C (p.Tyr6136=)
|
rs757188494
|
|
|
NM_001164508.2(NEB):c.18579+15T>C
|
rs2096234308
|
|
|
NM_001164508.2(NEB):c.18692C>T (p.Ala6231Val)
|
rs375357016
|
|
|
NM_001164508.2(NEB):c.1900T>C (p.Leu634=)
|
rs1576526817
|
|
|
NM_001164508.2(NEB):c.19137C>T (p.Asp6379=)
|
rs778962225
|
|
|
NM_001164508.2(NEB):c.19397G>A (p.Arg6466Gln)
|
rs747425038
|
|
|
NM_001164508.2(NEB):c.19428+8C>A
|
rs773614835
|
|
|
NM_001164508.2(NEB):c.19912C>T (p.Arg6638Trp)
|
rs771483221
|
|
|
NM_001164508.2(NEB):c.20467-5_20467-4dup
|
rs10687343
|
|
|
NM_001164508.2(NEB):c.20467-6_20467-4dup
|
rs10687343
|
|
|
NM_001164508.2(NEB):c.20578-6G>A
|
rs376710012
|
|
|
NM_001164508.2(NEB):c.2062C>G (p.Pro688Ala)
|
rs750276279
|
|
|
NM_001164508.2(NEB):c.2062C>T (p.Pro688Ser)
|
rs750276279
|
|
|
NM_001164508.2(NEB):c.21028T>C (p.Leu7010=)
|
rs750374820
|
|
|
NM_001164508.2(NEB):c.21332C>G (p.Ala7111Gly)
|
rs1279646895
|
|
|
NM_001164508.2(NEB):c.2155C>T (p.Pro719Ser)
|
rs376503299
|
|
|
NM_001164508.2(NEB):c.21588C>T (p.Pro7196=)
|
rs2090436424
|
|
|
NM_001164508.2(NEB):c.21859C>G (p.Arg7287Gly)
|
rs376072545
|
|
|
NM_001164508.2(NEB):c.22114A>T (p.Thr7372Ser)
|
rs750642580
|
|
|
NM_001164508.2(NEB):c.22132G>A (p.Val7378Ile)
|
rs764524918
|
|
|
NM_001164508.2(NEB):c.22677A>T (p.Thr7559=)
|
rs778662915
|
|
|
NM_001164508.2(NEB):c.23050C>T (p.Arg7684Cys)
|
rs762019205
|
|
|
NM_001164508.2(NEB):c.23315A>G (p.His7772Arg)
|
rs776379234
|
|
|
NM_001164508.2(NEB):c.23649+10_23649+11del
|
rs772001300
|
|
|
NM_001164508.2(NEB):c.24486+10G>A
|
rs755064162
|
|
|
NM_001164508.2(NEB):c.24859C>T (p.Arg8287Trp)
|
rs200804762
|
|
|
NM_001164508.2(NEB):c.25390C>A (p.Pro8464Thr)
|
rs376984481
|
|
|
NM_001164508.2(NEB):c.2822C>T (p.Ala941Val)
|
rs765478068
|
|
|
NM_001164508.2(NEB):c.2904A>G (p.Glu968=)
|
rs2099429615
|
|
|
NM_001164508.2(NEB):c.2987T>C (p.Ile996Thr)
|
rs753691207
|
|
|
NM_001164508.2(NEB):c.3209C>G (p.Ala1070Gly)
|
rs371710158
|
|
|
NM_001164508.2(NEB):c.3443C>A (p.Ala1148Glu)
|
rs200637566
|
|
|
NM_001164508.2(NEB):c.3778T>C (p.Leu1260=)
|
rs886038452
|
|
|
NM_001164508.2(NEB):c.426T>A (p.Asp142Glu)
|
rs200590080
|
|
|
NM_001164508.2(NEB):c.4507-3del
|
rs767772701
|
|
|
NM_001164508.2(NEB):c.4736C>T (p.Ala1579Val)
|
rs751602407
|
|
|
NM_001164508.2(NEB):c.4945_4947del (p.Tyr1649del)
|
rs770192528
|
|
|
NM_001164508.2(NEB):c.4978C>T (p.Pro1660Ser)
|
rs776231831
|
|
|
NM_001164508.2(NEB):c.508-6G>A
|
rs374227241
|
|
|
NM_001164508.2(NEB):c.5680A>G (p.Arg1894Gly)
|
rs150961139
|
|
|
NM_001164508.2(NEB):c.5698_5703del (p.Tyr1900_Asn1901del)
|
rs775531807
|
|
|
NM_001164508.2(NEB):c.5828T>A (p.Leu1943Gln)
|
rs531692437
|
|
|
NM_001164508.2(NEB):c.585C>G (p.Ala195=)
|
rs374538366
|
|
|
NM_001164508.2(NEB):c.585C>T (p.Ala195=)
|
rs374538366
|
|
|
NM_001164508.2(NEB):c.5971-6dup
|
rs551520922
|
|
|
NM_001164508.2(NEB):c.6299G>A (p.Arg2100Gln)
|
rs752836728
|
|
|
NM_001164508.2(NEB):c.6554G>T (p.Gly2185Val)
|
rs373439650
|
|
|
NM_001164508.2(NEB):c.7010T>C (p.Val2337Ala)
|
rs1558825869
|
|
|
NM_001164508.2(NEB):c.7176T>C (p.Pro2392=)
|
rs1042667385
|
|
|
NM_001164508.2(NEB):c.7644A>G (p.Glu2548=)
|
rs916950454
|
|
|
NM_001164508.2(NEB):c.7865T>G (p.Val2622Gly)
|
rs563691738
|
|
|
NM_001164508.2(NEB):c.7983G>T (p.Trp2661Cys)
|
rs756956766
|
|
|
NM_001164508.2(NEB):c.8469G>A (p.Val2823=)
|
rs1574818802
|
|
|
NM_001164508.2(NEB):c.8718A>C (p.Arg2906Ser)
|
rs753718572
|
|
|
NM_001164508.2(NEB):c.8972T>G (p.Met2991Arg)
|
rs539367087
|
|
|
NM_001164508.2(NEB):c.9631G>A (p.Glu3211Lys)
|
rs757944456
|
|
|
NM_001164665.2(KIAA1549):c.3317G>A (p.Arg1106Gln)
|
rs200423257
|
|
|
NM_001164688.2(RD3):c.468C>T (p.Arg156=)
|
rs148189077
|
|
|
NM_001165963.4(SCN1A):c.135C>T (p.Asp45=)
|
rs201985242
|
|
|
NM_001165963.4(SCN1A):c.2044-5dup
|
rs549232924
|
|
|
NM_001165963.4(SCN1A):c.2946+4T>C
|
rs1390205269
|
|
|
NM_001165963.4(SCN1A):c.3705+10del
|
rs570862962
|
|
|
NM_001165963.4(SCN1A):c.4002+2420G>A
|
|
|
|
NM_001165963.4(SCN1A):c.4339-5G>A
|
rs1057522587
|
|
|
NM_001165963.4(SCN1A):c.5008T>C (p.Leu1670=)
|
|
|
|
NM_001165963.4(SCN1A):c.852T>C (p.Asn284=)
|
rs748747434
|
|
|
NM_001166114.2(PNPLA6):c.1608+11C>T
|
rs368627125
|
|
|
NM_001166114.2(PNPLA6):c.1770A>G (p.Gln590=)
|
rs780340075
|
|
|
NM_001166114.2(PNPLA6):c.2937-4G>A
|
rs1178206789
|
|
|
NM_001166114.2(PNPLA6):c.306T>A (p.Ile102=)
|
rs554346890
|
|
|
NM_001166114.2(PNPLA6):c.3726G>A (p.Ala1242=)
|
rs146121276
|
|
|
NM_001166114.2(PNPLA6):c.3882C>G (p.Pro1294=)
|
rs202070445
|
|
|
NM_001170629.2(CHD8):c.1234G>A (p.Ala412Thr)
|
|
|
|
NM_001170629.2(CHD8):c.2691G>A (p.Gln897=)
|
rs1369694963
|
|
|
NM_001170629.2(CHD8):c.3229G>A (p.Gly1077Ser)
|
|
|
|
NM_001170629.2(CHD8):c.6243TTC[3] (p.Ser2094del)
|
rs150254629
|
|
|
NM_001170629.2(CHD8):c.6447A>G (p.Gln2149=)
|
rs370106194
|
|
|
NM_001170629.2(CHD8):c.7365G>A (p.Gln2455=)
|
rs766944646
|
|
|
NM_001170629.2(CHD8):c.846T>C (p.Gly282=)
|
|
|
|
NM_001171.6(ABCC6):c.1636-5C>G
|
rs771552185
|
|
|
NM_001171.6(ABCC6):c.1769C>T (p.Ser590Phe)
|
|
|
|
NM_001171038.2(ASMT):c.51C>A (p.Asn17Lys)
|
|
|
|
NM_001172509.2(SATB2):c.424A>G (p.Met142Val)
|
rs751779659
|
|
|
NM_001173990.3(TMEM216):c.*6A>G
|
rs541341560
|
|
|
NM_001174147.2(LMX1B):c.783C>T (p.Arg261=)
|
|
|
|
NM_001177316.2(SLC34A3):c.195_215del (p.Arg65_Gly71del)
|
rs532224704
|
|
|
NM_001177316.2(SLC34A3):c.709G>A (p.Asp237Asn)
|
rs145877051
|
|
|
NM_001177316.2(SLC34A3):c.837G>A (p.Thr279=)
|
rs368153798
|
|
|
NM_001182.5(ALDH7A1):c.1536C>T (p.Ala512=)
|
rs1015790945
|
|
|
NM_001182.5(ALDH7A1):c.201G>T (p.Thr67=)
|
rs747643987
|
|
|
NM_001182.5(ALDH7A1):c.313-10C>A
|
rs567441242
|
|
|
NM_001182.5(ALDH7A1):c.387A>C (p.Gly129=)
|
rs1467521069
|
|
|
NM_001182.5(ALDH7A1):c.423G>C (p.Val141=)
|
rs199653162
|
|
|
NM_001182.5(ALDH7A1):c.921A>G (p.Glu307=)
|
|
|
|
NM_001183.6(ATP6AP1):c.96GGC[6] (p.Ala41del)
|
rs781797236
|
|
|
NM_001184.4(ATR):c.1546A>G (p.Thr516Ala)
|
|
|
|
NM_001184.4(ATR):c.5007T>C (p.Ile1669=)
|
rs2108361083
|
|
|
NM_001184.4(ATR):c.7185A>G (p.Lys2395=)
|
rs749700431
|
|
|
NM_001184880.2(PCDH19):c.1401G>T (p.Thr467=)
|
rs794726896
|
|
|
NM_001184880.2(PCDH19):c.3127A>T (p.Ile1043Phe)
|
rs189342249
|
|
|
NM_001184880.2(PCDH19):c.528G>T (p.Leu176=)
|
rs971048873
|
|
|
NM_001190274.2(FBXO11):c.134_154dup (p.Gln51_Gln52insProProProProProGlnGln)
|
|
|
|
NM_001190274.2(FBXO11):c.149AGC[8] (p.Gln56dup)
|
rs746953076
|
|
|
NM_001190274.2(FBXO11):c.1702+6C>T
|
|
|
|
NM_001190274.2(FBXO11):c.183_191dup (p.Pro66_Leu67insProProPro)
|
|
|
|
NM_001190274.2(FBXO11):c.2447-10T>C
|
|
|
|
NM_001190417.2(ZNF674):c.975_976del (p.His325_Ile326insTer)
|
rs778073001
|
|
|
NM_001191061.2(SLC25A22):c.-72TCCACC[4]
|
rs145401722
|
|
|
NM_001191061.2(SLC25A22):c.413-7T>C
|
rs969941249
|
|
|
NM_001193315.2(VIPAS39):c.110G>A (p.Arg37Gln)
|
rs537717904
|
|
|
NM_001194998.2(CEP152):c.2895A>G (p.Gln965=)
|
|
|
|
NM_001194998.2(CEP152):c.3071G>T (p.Arg1024Leu)
|
rs199914670
|
|
|
NM_001195248.2(APTX):c.484-25_484-10del
|
rs774597262
|
|
|
NM_001195263.2(PDZD7):c.1348_1350del (p.Glu450del)
|
rs555444131
|
|
|
NM_001195263.2(PDZD7):c.2319TAGCCGCAGCCG[1] (p.773RS[4])
|
rs762000985
|
|
|
NM_001197104.2(KMT2A):c.10417C>T (p.Arg3473Cys)
|
|
|
|
NM_001197104.2(KMT2A):c.10580G>A (p.Arg3527Gln)
|
rs147844226
|
|
|
NM_001197104.2(KMT2A):c.1519C>G (p.Pro507Ala)
|
rs191014566
|
|
|
NM_001197104.2(KMT2A):c.188CGG[6] (p.Ala67dup)
|
rs781936420
|
|
|
NM_001197104.2(KMT2A):c.2062T>A (p.Phe688Ile)
|
rs369566552
|
|
|
NM_001197104.2(KMT2A):c.370A>G (p.Thr124Ala)
|
|
|
|
NM_001197104.2(KMT2A):c.3770G>T (p.Ser1257Ile)
|
rs988213215
|
|
|
NM_001197104.2(KMT2A):c.3796C>T (p.Pro1266Ser)
|
|
|
|
NM_001197104.2(KMT2A):c.412G>A (p.Gly138Arg)
|
|
|
|
NM_001197104.2(KMT2A):c.4696+5C>G
|
|
|
|
NM_001197104.2(KMT2A):c.6470A>G (p.Gln2157Arg)
|
rs2134381992
|
|
|
NM_001197104.2(KMT2A):c.6793A>C (p.Thr2265Pro)
|
|
|
|
NM_001197104.2(KMT2A):c.7561C>T (p.Arg2521Cys)
|
|
|
|
NM_001197104.2(KMT2A):c.8096G>A (p.Arg2699Gln)
|
|
|
|
NM_001199107.2(TBC1D24):c.811A>G (p.Thr271Ala)
|
|
|
|
NM_001199397.3(NEK1):c.1081-8dup
|
rs398124255
|
|
|
NM_001199397.3(NEK1):c.1334A>G (p.His445Arg)
|
rs574204412
|
|
|
NM_001199397.3(NEK1):c.2161C>T (p.Arg721Trp)
|
rs201726561
|
|
|
NM_001199397.3(NEK1):c.2974+11T>C
|
rs886059229
|
|
|
NM_001199397.3(NEK1):c.3141G>A (p.Ser1047=)
|
rs190807750
|
|
|
NM_001199397.3(NEK1):c.3289G>A (p.Val1097Ile)
|
rs374890006
|
|
|
NM_001199397.3(NEK1):c.3727G>T (p.Asp1243Tyr)
|
|
|
|
NM_001199397.3(NEK1):c.894C>G (p.Asn298Lys)
|
rs745526568
|
|
|
NM_001199799.2(ILDR1):c.1358G>A (p.Arg453Gln)
|
|
|
|
NM_001199799.2(ILDR1):c.661C>T (p.Arg221Cys)
|
rs182963279
|
|
|
NM_001200.4(BMP2):c.87C>T (p.Gly29=)
|
|
|
|
NM_001204.7(BMPR2):c.1037C>A (p.Thr346Asn)
|
rs757926043
|
|
|
NM_001204.7(BMPR2):c.419-38del
|
rs10714063
|
|
|
NM_001205293.3(CACNA1E):c.176G>A (p.Arg59Gln)
|
rs535592986
|
|
|
NM_001205293.3(CACNA1E):c.2177A>T (p.Lys726Ile)
|
rs2102509840
|
|
|
NM_001205293.3(CACNA1E):c.2425A>G (p.Asn809Asp)
|
|
|
|
NM_001205293.3(CACNA1E):c.2438C>T (p.Pro813Leu)
|
|
|
|
NM_001205293.3(CACNA1E):c.2460C>T (p.Leu820=)
|
|
|
|
NM_001205293.3(CACNA1E):c.2759G>A (p.Arg920His)
|
|
|
|
NM_001205293.3(CACNA1E):c.2779A>G (p.Arg927Gly)
|
|
|
|
NM_001205293.3(CACNA1E):c.3337AAG[2] (p.Lys1115del)
|
|
|
|
NM_001205293.3(CACNA1E):c.3423-4G>A
|
|
|
|
NM_001205293.3(CACNA1E):c.4692G>A (p.Leu1564=)
|
rs2102723150
|
|
|
NM_001205293.3(CACNA1E):c.4816-19A>T
|
|
|
|
NM_001205293.3(CACNA1E):c.5898+6T>G
|
rs1661213734
|
|
|
NM_001205293.3(CACNA1E):c.6229C>T (p.Arg2077Cys)
|
rs370905391
|
|
|
NM_001205293.3(CACNA1E):c.6863G>A (p.Arg2288His)
|
|
|
|
NM_001206927.2(DNAH8):c.12100C>T (p.Leu4034Phe)
|
rs146505940
|
|
|
NM_001206979.2(NR1H4):c.750C>T (p.Thr250=)
|
rs1322754256
|
|
|
NM_001206999.2(CIT):c.1125C>T (p.Phe375=)
|
|
|
|
NM_001206999.2(CIT):c.753+8del
|
rs771292782
|
|
|
NM_001212.4(C1QBP):c.241G>A (p.Ala81Thr)
|
|
|
|
NM_001212.4(C1QBP):c.577-5_577-3del
|
|
|
|
NM_001220.5(CAMK2B):c.1568del (p.Pro523fs)
|
|
|
|
NM_001220.5(CAMK2B):c.414+16A>T
|
|
|
|
NM_001231.5(CASQ1):c.429G>C (p.Glu143Asp)
|
|
|
|
NM_001231.5(CASQ1):c.448G>T (p.Val150Leu)
|
rs775466623
|
|
|
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del)
|
rs72554069
|
|
|
NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup)
|
rs72554069
|
|
|
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del)
|
rs397516641
|
|
|
NM_001232.4(CASQ2):c.1188TGA[2] (p.Asp398del)
|
rs72554070
|
|
|
NM_001232.4(CASQ2):c.421-15C>G
|
rs199939582
|
|
|
NM_001235.5(SERPINH1):c.346C>A (p.Arg116Ser)
|
rs200265134
|
|
|
NM_001242896.3(DEPDC5):c.1291G>A (p.Ala431Thr)
|
rs777844378
|
|
|
NM_001242896.3(DEPDC5):c.1316G>A (p.Arg439His)
|
|
|
|
NM_001242896.3(DEPDC5):c.3259C>G (p.Arg1087Gly)
|
|
|
|
NM_001242957.3(MAK):c.1815T>C (p.Thr605=)
|
rs570463236
|
|
|
NM_001243133.2(NLRP3):c.224C>T (p.Ala75Val)
|
rs200288250
|
|
|
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln)
|
rs144681140
|
|
|
NM_001243279.3(ACSF3):c.667-9C>T
|
rs369865917
|
|
|
NM_001244008.2(KIF1A):c.2493G>T (p.Val831=)
|
rs201861261
|
|
|
NM_001244008.2(KIF1A):c.2721GGA[12] (p.Glu917dup)
|
rs10594016
|
|
|
NM_001244008.2(KIF1A):c.2721GGA[9] (p.Glu916_Glu917del)
|
rs10594016
|
|
|
NM_001244008.2(KIF1A):c.5064G>A (p.Pro1688=)
|
rs527977882
|
|
|
NM_001244008.2(KIF1A):c.720+5G>C
|
rs377502239
|
|
|
NM_001252024.2(TRPM1):c.2149G>A (p.Ala717Thr)
|
rs138944426
|
|
|
NM_001253697.2(ERBIN):c.1903+6A>C
|
|
|
|
NM_001256007.3(PNPLA8):c.1025A>G (p.Glu342Gly)
|
rs138887728
|
|
|
NM_001256012.3(MYH10):c.5681G>A (p.Arg1894Gln)
|
rs1038557470
|
|
|
NM_001256053.2(ANKRD26):c.1815-2_1815del
|
rs564681878
|
|
|
NM_001256071.3(RNF213):c.11096T>C (p.Met3699Thr)
|
|
|
|
NM_001256071.3(RNF213):c.5465C>T (p.Pro1822Leu)
|
|
|
|
NM_001256071.3(RNF213):c.5635C>T (p.Arg1879Cys)
|
|
|
|
NM_001256317.3(TMPRSS3):c.1192-8T>C
|
rs751114709
|
|
|
NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu)
|
rs150397427
|
|
|
NM_001256545.2(MEGF10):c.1673G>T (p.Arg558Leu)
|
rs182243856
|
|
|
NM_001256545.2(MEGF10):c.3215_3216delinsAC (p.Arg1072Asn)
|
rs386692223
|
|
|
NM_001256545.2(MEGF10):c.954T>C (p.Val318=)
|
rs1580833127
|
|
|
NM_001256715.2(DNAAF3):c.988A>G (p.Thr330Ala)
|
|
|
|
NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[2] (p.Glu812_Glu814del)
|
rs59355923
|
|
|
NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[4] (p.Glu812_Glu814dup)
|
rs59355923
|
|
|
NM_001257281.2(DIS3L2):c.1651_1652insGGG (p.Glu550_Ala551insGly)
|
rs141560952
|
|
|
NM_001257291.2(SLC9A7):c.1330A>G (p.Ile444Val)
|
|
|
|
NM_001258392.3(CLPB):c.1795C>A (p.Arg599Ser)
|
|
|
|
NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly)
|
rs144712077
|
|
|
NM_001261826.3(AP3D1):c.2587GAGAAG[1] (p.863EK[1])
|
rs756601658
|
|
|
NM_001261826.3(AP3D1):c.2645CCCCCG[3] (p.882AP[3])
|
rs750853882
|
|
|
NM_001261826.3(AP3D1):c.2645CCCCCG[5] (p.882AP[5])
|
rs750853882
|
|
|
NM_001261826.3(AP3D1):c.3265-5C>T
|
rs534639518
|
|
|
NM_001261826.3(AP3D1):c.3400A>C (p.Ile1134Leu)
|
rs25673
|
|
|
NM_001267550.2(TTN):c.100172-17dup
|
rs397517782
|
|
|
NM_001267550.2(TTN):c.100397G>A (p.Arg33466His)
|
rs189626540
|
|
|
NM_001267550.2(TTN):c.100980G>A (p.Glu33660=)
|
rs727503536
|
|
|
NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys)
|
rs201857158
|
|
|
NM_001267550.2(TTN):c.101291C>T (p.Ala33764Val)
|
rs773542514
|
|
|
NM_001267550.2(TTN):c.101532A>G (p.Thr33844=)
|
rs776839796
|
|
|
NM_001267550.2(TTN):c.101613G>A (p.Arg33871=)
|
rs797046068
|
|
|
NM_001267550.2(TTN):c.102328C>T (p.Arg34110Trp)
|
|
|
|
NM_001267550.2(TTN):c.102885T>C (p.Gly34295=)
|
rs886039175
|
|
|
NM_001267550.2(TTN):c.103246T>C (p.Leu34416=)
|
rs1553492053
|
|
|
NM_001267550.2(TTN):c.103514A>T (p.Glu34505Val)
|
rs761105256
|
|
|
NM_001267550.2(TTN):c.103659AGA[2] (p.Glu34555del)
|
rs759860918
|
|
|
NM_001267550.2(TTN):c.104796T>G (p.Ser34932Arg)
|
rs794729566
|
|
|
NM_001267550.2(TTN):c.105406C>T (p.Arg35136Trp)
|
rs372875128
|
|
|
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del)
|
rs573843615
|
|
|
NM_001267550.2(TTN):c.105790G>A (p.Val35264Ile)
|
rs770730954
|
|
|
NM_001267550.2(TTN):c.106133C>G (p.Ala35378Gly)
|
rs555476312
|
|
|
NM_001267550.2(TTN):c.106133C>T (p.Ala35378Val)
|
rs555476312
|
|
|
NM_001267550.2(TTN):c.106795G>C (p.Ala35599Pro)
|
|
|
|
NM_001267550.2(TTN):c.107301C>A (p.Ser35767Arg)
|
rs1558965303
|
|
|
NM_001267550.2(TTN):c.107387A>C (p.Glu35796Ala)
|
rs1553478042
|
|
|
NM_001267550.2(TTN):c.107647T>G (p.Ser35883Ala)
|
rs1553477432
|
|
|
NM_001267550.2(TTN):c.11959A>G (p.Ile3987Val)
|
rs551387805
|
|
|
NM_001267550.2(TTN):c.12813C>T (p.His4271=)
|
rs373302409
|
|
|
NM_001267550.2(TTN):c.12837T>C (p.Asp4279=)
|
rs762681376
|
|
|
NM_001267550.2(TTN):c.13265T>G (p.Ile4422Ser)
|
rs727503656
|
|
|
NM_001267550.2(TTN):c.13701T>G (p.Asp4567Glu)
|
rs200422152
|
|
|
NM_001267550.2(TTN):c.1398+4C>T
|
rs368548209
|
|
|
NM_001267550.2(TTN):c.14788C>A (p.Pro4930Thr)
|
rs201744218
|
|
|
NM_001267550.2(TTN):c.15553G>A (p.Val5185Ile)
|
rs370535651
|
|
|
NM_001267550.2(TTN):c.156C>G (p.Pro52=)
|
rs72647842
|
|
|
NM_001267550.2(TTN):c.16751T>A (p.Ile5584Asn)
|
rs779652311
|
|
|
NM_001267550.2(TTN):c.16964T>C (p.Met5655Thr)
|
rs886044306
|
|
|
NM_001267550.2(TTN):c.177C>A (p.Ser59Arg)
|
rs191057824
|
|
|
NM_001267550.2(TTN):c.20999A>G (p.Asn7000Ser)
|
rs764035021
|
|
|
NM_001267550.2(TTN):c.21189G>A (p.Leu7063=)
|
|
|
|
NM_001267550.2(TTN):c.21378A>C (p.Glu7126Asp)
|
rs786205315
|
|
|
NM_001267550.2(TTN):c.2283_2288del (p.Lys762_Ala763del)
|
rs727503701
|
|
|
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu)
|
rs149523263
|
|
|
NM_001267550.2(TTN):c.23538C>T (p.Phe7846=)
|
rs149523263
|
|
|
NM_001267550.2(TTN):c.2396C>T (p.Thr799Met)
|
rs149061352
|
|
|
NM_001267550.2(TTN):c.24045A>T (p.Ser8015=)
|
rs1060503946
|
|
|
NM_001267550.2(TTN):c.24156A>G (p.Thr8052=)
|
rs749823104
|
|
|
NM_001267550.2(TTN):c.25087G>T (p.Ala8363Ser)
|
rs200972189
|
|
|
NM_001267550.2(TTN):c.25476T>C (p.Asp8492=)
|
rs777349143
|
|
|
NM_001267550.2(TTN):c.25616G>T (p.Cys8539Phe)
|
rs550882549
|
|
|
NM_001267550.2(TTN):c.26161G>A (p.Val8721Met)
|
rs777730788
|
|
|
NM_001267550.2(TTN):c.26762-10_26762-9insTTGTTTTGTA
|
rs1553893826
|
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[11]
|
rs71393436
|
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[9]
|
rs71393436
|
|
|
NM_001267550.2(TTN):c.26991A>C (p.Thr8997=)
|
rs61232800
|
|
|
NM_001267550.2(TTN):c.2707G>A (p.Gly903Arg)
|
|
|
|
NM_001267550.2(TTN):c.2744G>A (p.Arg915His)
|
rs376922544
|
|
|
NM_001267550.2(TTN):c.2761G>A (p.Gly921Arg)
|
rs774924294
|
|
|
NM_001267550.2(TTN):c.28151C>G (p.Ser9384Cys)
|
rs760466007
|
|
|
NM_001267550.2(TTN):c.28754A>G (p.Glu9585Gly)
|
rs200856239
|
|
|
NM_001267550.2(TTN):c.29144C>T (p.Ala9715Val)
|
rs533172128
|
|
|
NM_001267550.2(TTN):c.29448AGA[2] (p.Glu9820del)
|
rs377232641
|
|
|
NM_001267550.2(TTN):c.29938G>A (p.Ala9980Thr)
|
rs189286381
|
|
|
NM_001267550.2(TTN):c.3002T>G (p.Met1001Arg)
|
rs148269839
|
|
|
NM_001267550.2(TTN):c.30683-18_30683-9del
|
rs775388232
|
|
|
NM_001267550.2(TTN):c.30713A>G (p.Lys10238Arg)
|
rs780073797
|
|
|
NM_001267550.2(TTN):c.30994C>G (p.Pro10332Ala)
|
rs757869762
|
|
|
NM_001267550.2(TTN):c.31505C>T (p.Ser10502Leu)
|
rs768632287
|
|
|
NM_001267550.2(TTN):c.31762+5_31762+7del
|
rs397517538
|
|
|
NM_001267550.2(TTN):c.32054C>T (p.Ala10685Val)
|
rs794729407
|
|
|
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr)
|
rs55914517
|
|
|
NM_001267550.2(TTN):c.3241G>T (p.Ala1081Ser)
|
rs55914517
|
|
|
NM_001267550.2(TTN):c.32515G>T (p.Ala10839Ser)
|
rs727503635
|
|
|
NM_001267550.2(TTN):c.32554+5_32554+6del
|
rs771419718
|
|
|
NM_001267550.2(TTN):c.32954G>A (p.Arg10985Gln)
|
rs181395238
|
|
|
NM_001267550.2(TTN):c.32970_32987del (p.10987_10989EEY[1])
|
rs766756026
|
|
|
NM_001267550.2(TTN):c.33206C>T (p.Pro11069Leu)
|
rs1577342347
|
|
|
NM_001267550.2(TTN):c.33501AGA[4] (p.Glu11172del)
|
rs368327166
|
|
|
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup)
|
rs368327166
|
|
|
NM_001267550.2(TTN):c.34092A>T (p.Leu11364=)
|
rs765888527
|
|
|
NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[1] (p.11363VLPEEEE[3])
|
rs397517548
|
|
|
NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[3] (p.11363VLPEEEE[5])
|
rs397517548
|
|
|
NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3])
|
rs587780487
|
|
|
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del)
|
rs397517549
|
|
|
NM_001267550.2(TTN):c.34660GAA[1] (p.Glu11555del)
|
rs763098227
|
|
|
NM_001267550.2(TTN):c.34708+9G>T
|
rs397517551
|
|
|
NM_001267550.2(TTN):c.35199A>G (p.Val11733=)
|
rs1560255134
|
|
|
NM_001267550.2(TTN):c.36044C>G (p.Thr12015Arg)
|
rs199868380
|
|
|
NM_001267550.2(TTN):c.36044C>T (p.Thr12015Met)
|
rs199868380
|
|
|
NM_001267550.2(TTN):c.36708A>T (p.Glu12236Asp)
|
rs796478043
|
|
|
NM_001267550.2(TTN):c.37421T>C (p.Ile12474Thr)
|
rs72650057
|
|
|
NM_001267550.2(TTN):c.38455G>A (p.Ala12819Thr)
|
|
|
|
NM_001267550.2(TTN):c.3968C>T (p.Ala1323Val)
|
rs774954394
|
|
|
NM_001267550.2(TTN):c.40222+2TA[9]
|
rs10580462
|
|
|
NM_001267550.2(TTN):c.40408+3dup
|
rs727504922
|
|
|
NM_001267550.2(TTN):c.40408+8del
|
rs727504922
|
|
|
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del)
|
rs727504199
|
|
|
NM_001267550.2(TTN):c.40595T>C (p.Val13532Ala)
|
rs756446770
|
|
|
NM_001267550.2(TTN):c.40788A>G (p.Glu13596=)
|
rs886042511
|
|
|
NM_001267550.2(TTN):c.40915G>T (p.Gly13639Cys)
|
|
|
|
NM_001267550.2(TTN):c.41178C>T (p.Ile13726=)
|
rs1559992784
|
|
|
NM_001267550.2(TTN):c.41439G>A (p.Arg13813=)
|
|
|
|
NM_001267550.2(TTN):c.4227A>G (p.Ser1409=)
|
rs2154346890
|
|
|
NM_001267550.2(TTN):c.422G>A (p.Gly141Glu)
|
|
|
|
NM_001267550.2(TTN):c.4270C>T (p.Pro1424Ser)
|
rs772479207
|
|
|
NM_001267550.2(TTN):c.4289C>A (p.Ala1430Glu)
|
rs577298130
|
|
|
NM_001267550.2(TTN):c.43138T>C (p.Cys14380Arg)
|
rs557125278
|
|
|
NM_001267550.2(TTN):c.43255G>A (p.Val14419Ile)
|
rs529018517
|
|
|
NM_001267550.2(TTN):c.43263G>A (p.Glu14421=)
|
|
|
|
NM_001267550.2(TTN):c.43502C>G (p.Thr14501Ser)
|
rs115825044
|
|
|
NM_001267550.2(TTN):c.43987A>C (p.Lys14663Gln)
|
rs1271800091
|
|
|
NM_001267550.2(TTN):c.44210G>A (p.Arg14737His)
|
rs373298007
|
|
|
NM_001267550.2(TTN):c.44210G>T (p.Arg14737Leu)
|
rs373298007
|
|
|
NM_001267550.2(TTN):c.44375T>A (p.Ile14792Asn)
|
rs747654057
|
|
|
NM_001267550.2(TTN):c.44812G>A (p.Val14938Met)
|
|
|
|
NM_001267550.2(TTN):c.45053C>A (p.Ala15018Glu)
|
rs72677221
|
|
|
NM_001267550.2(TTN):c.4561A>C (p.Thr1521Pro)
|
rs1574674545
|
|
|
NM_001267550.2(TTN):c.45748A>T (p.Ser15250Cys)
|
rs776190494
|
|
|
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn)
|
rs397517583
|
|
|
NM_001267550.2(TTN):c.46823T>C (p.Leu15608Ser)
|
rs397517588
|
|
|
NM_001267550.2(TTN):c.47874T>C (p.Phe15958=)
|
|
|
|
NM_001267550.2(TTN):c.48161-4del
|
rs730880371
|
|
|
NM_001267550.2(TTN):c.48330T>C (p.Thr16110=)
|
rs557105262
|
|
|
NM_001267550.2(TTN):c.48378_48380del (p.Leu16126del)
|
rs561618839
|
|
|
NM_001267550.2(TTN):c.49814T>G (p.Val16605Gly)
|
rs781195013
|
|
|
NM_001267550.2(TTN):c.50891T>C (p.Ile16964Thr)
|
rs794729453
|
|
|
NM_001267550.2(TTN):c.51928GAA[2] (p.Glu17312del)
|
rs780745206
|
|
|
NM_001267550.2(TTN):c.5196A>C (p.Pro1732=)
|
rs142262519
|
|
|
NM_001267550.2(TTN):c.52290T>C (p.Tyr17430=)
|
rs990974705
|
|
|
NM_001267550.2(TTN):c.53150G>A (p.Arg17717His)
|
rs757018821
|
|
|
NM_001267550.2(TTN):c.54037G>T (p.Ala18013Ser)
|
rs531242797
|
|
|
NM_001267550.2(TTN):c.54471A>T (p.Lys18157Asn)
|
|
|
|
NM_001267550.2(TTN):c.55303-1G>A
|
rs748369265
|
|
|
NM_001267550.2(TTN):c.55738C>T (p.Pro18580Ser)
|
rs528329600
|
|
|
NM_001267550.2(TTN):c.5577G>A (p.Arg1859=)
|
rs551538420
|
|
|
NM_001267550.2(TTN):c.56051-7_56051-5del
|
rs774966673
|
|
|
NM_001267550.2(TTN):c.56685C>T (p.Ser18895=)
|
rs375403059
|
|
|
NM_001267550.2(TTN):c.57360T>A (p.Pro19120=)
|
rs778995340
|
|
|
NM_001267550.2(TTN):c.5739C>T (p.Thr1913=)
|
rs530291008
|
|
|
NM_001267550.2(TTN):c.57478G>A (p.Val19160Ile)
|
rs200778464
|
|
|
NM_001267550.2(TTN):c.58205A>G (p.Glu19402Gly)
|
rs886042539
|
|
|
NM_001267550.2(TTN):c.5855A>G (p.His1952Arg)
|
rs572691153
|
|
|
NM_001267550.2(TTN):c.587AAG[2] (p.Glu198del)
|
rs771898264
|
|
|
NM_001267550.2(TTN):c.59442A>G (p.Pro19814=)
|
rs1304742332
|
|
|
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His)
|
rs144135510
|
|
|
NM_001267550.2(TTN):c.59965G>A (p.Val19989Ile)
|
rs1021499065
|
|
|
NM_001267550.2(TTN):c.60205T>C (p.Cys20069Arg)
|
|
|
|
NM_001267550.2(TTN):c.61370A>C (p.Glu20457Ala)
|
rs541930965
|
|
|
NM_001267550.2(TTN):c.61483C>G (p.Arg20495Gly)
|
rs370128504
|
|
|
NM_001267550.2(TTN):c.62931AGA[1] (p.Glu20979del)
|
rs727505236
|
|
|
NM_001267550.2(TTN):c.63287T>A (p.Ile21096Asn)
|
rs558727238
|
|
|
NM_001267550.2(TTN):c.63329C>T (p.Ala21110Val)
|
rs370687831
|
|
|
NM_001267550.2(TTN):c.6359G>T (p.Arg2120Leu)
|
rs141142920
|
|
|
NM_001267550.2(TTN):c.63834C>T (p.Val21278=)
|
rs911870330
|
|
|
NM_001267550.2(TTN):c.64683C>G (p.Gly21561=)
|
rs542156552
|
|
|
NM_001267550.2(TTN):c.65187G>A (p.Glu21729=)
|
rs397517660
|
|
|
NM_001267550.2(TTN):c.65194T>C (p.Phe21732Leu)
|
rs397517661
|
|
|
NM_001267550.2(TTN):c.65380G>A (p.Val21794Ile)
|
rs373848128
|
|
|
NM_001267550.2(TTN):c.66161-12_66161-9del
|
rs758125069
|
|
|
NM_001267550.2(TTN):c.66385C>T (p.Arg22129Cys)
|
rs763729258
|
|
|
NM_001267550.2(TTN):c.66787C>T (p.Leu22263Phe)
|
|
|
|
NM_001267550.2(TTN):c.68218C>T (p.Pro22740Ser)
|
rs886039082
|
|
|
NM_001267550.2(TTN):c.68417C>T (p.Thr22806Ile)
|
rs727503573
|
|
|
NM_001267550.2(TTN):c.68604C>T (p.Asp22868=)
|
rs750368181
|
|
|
NM_001267550.2(TTN):c.68762C>T (p.Thr22921Ile)
|
rs534567766
|
|
|
NM_001267550.2(TTN):c.69876A>C (p.Thr23292=)
|
rs1267766480
|
|
|
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu)
|
rs372799151
|
|
|
NM_001267550.2(TTN):c.69903C>T (p.Phe23301=)
|
rs372799151
|
|
|
NM_001267550.2(TTN):c.70026T>C (p.Pro23342=)
|
rs878983731
|
|
|
NM_001267550.2(TTN):c.70137C>A (p.Thr23379=)
|
rs770349910
|
|
|
NM_001267550.2(TTN):c.7020C>T (p.Ile2340=)
|
rs587780986
|
|
|
NM_001267550.2(TTN):c.71268T>C (p.Gly23756=)
|
|
|
|
NM_001267550.2(TTN):c.71305A>G (p.Thr23769Ala)
|
rs776889753
|
|
|
NM_001267550.2(TTN):c.71832A>C (p.Lys23944Asn)
|
rs1449315408
|
|
|
NM_001267550.2(TTN):c.72174T>C (p.Pro24058=)
|
rs886042700
|
|
|
NM_001267550.2(TTN):c.7223A>G (p.Gln2408Arg)
|
rs777244038
|
|
|
NM_001267550.2(TTN):c.72716T>A (p.Met24239Lys)
|
rs750298083
|
|
|
NM_001267550.2(TTN):c.74262A>G (p.Val24754=)
|
rs745865847
|
|
|
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del)
|
rs543318580
|
|
|
NM_001267550.2(TTN):c.7492A>G (p.Thr2498Ala)
|
rs943280773
|
|
|
NM_001267550.2(TTN):c.7595-7del
|
rs774519095
|
|
|
NM_001267550.2(TTN):c.7628C>G (p.Thr2543Ser)
|
rs765136135
|
|
|
NM_001267550.2(TTN):c.76383TAA[1] (p.Asn25462del)
|
rs749648136
|
|
|
NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys)
|
rs56372592
|
|
|
NM_001267550.2(TTN):c.76802C>T (p.Thr25601Met)
|
rs374913031
|
|
|
NM_001267550.2(TTN):c.77249G>A (p.Arg25750Gln)
|
rs368038362
|
|
|
NM_001267550.2(TTN):c.77302C>A (p.Leu25768Ile)
|
rs541266544
|
|
|
NM_001267550.2(TTN):c.77515A>C (p.Lys25839Gln)
|
rs1371831965
|
|
|
NM_001267550.2(TTN):c.7876C>T (p.Leu2626Phe)
|
rs944728845
|
|
|
NM_001267550.2(TTN):c.79519_79520delinsAA (p.Ala26507Asn)
|
rs886044012
|
|
|
NM_001267550.2(TTN):c.79862C>A (p.Thr26621Lys)
|
rs3731746
|
|
|
NM_001267550.2(TTN):c.79883G>A (p.Arg26628Gln)
|
rs201091376
|
|
|
NM_001267550.2(TTN):c.80694A>C (p.Lys26898Asn)
|
rs372650410
|
|
|
NM_001267550.2(TTN):c.80881_80882delinsAA (p.Ala26961Lys)
|
rs1575668982
|
|
|
NM_001267550.2(TTN):c.81527G>T (p.Arg27176Leu)
|
rs199726308
|
|
|
NM_001267550.2(TTN):c.8184C>G (p.Val2728=)
|
rs753356474
|
|
|
NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys)
|
rs201489661
|
|
|
NM_001267550.2(TTN):c.82385C>T (p.Thr27462Met)
|
rs55933739
|
|
|
NM_001267550.2(TTN):c.82574C>T (p.Thr27525Met)
|
rs1321989289
|
|
|
NM_001267550.2(TTN):c.8269G>A (p.Val2757Ile)
|
|
|
|
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile)
|
rs371788070
|
|
|
NM_001267550.2(TTN):c.83281G>C (p.Val27761Leu)
|
rs371788070
|
|
|
NM_001267550.2(TTN):c.83526T>G (p.Ala27842=)
|
rs539533062
|
|
|
NM_001267550.2(TTN):c.84171A>G (p.Gly28057=)
|
|
|
|
NM_001267550.2(TTN):c.84681T>C (p.Tyr28227=)
|
rs373268234
|
|
|
NM_001267550.2(TTN):c.85040T>C (p.Ile28347Thr)
|
rs397517731
|
|
|
NM_001267550.2(TTN):c.85871G>A (p.Arg28624His)
|
rs538641703
|
|
|
NM_001267550.2(TTN):c.86497_86498delinsTT (p.Ala28833Phe)
|
rs794729519
|
|
|
NM_001267550.2(TTN):c.86683G>A (p.Val28895Met)
|
rs201290358
|
|
|
NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del)
|
rs727504797
|
|
|
NM_001267550.2(TTN):c.88112T>C (p.Ile29371Thr)
|
rs767890385
|
|
|
NM_001267550.2(TTN):c.88735G>A (p.Val29579Ile)
|
rs879204059
|
|
|
NM_001267550.2(TTN):c.89457A>G (p.Gly29819=)
|
rs1553542686
|
|
|
NM_001267550.2(TTN):c.90594T>C (p.His30198=)
|
rs765307374
|
|
|
NM_001267550.2(TTN):c.90758GAG[2] (p.Gly30255del)
|
rs748912340
|
|
|
NM_001267550.2(TTN):c.90870C>T (p.Val30290=)
|
rs794729527
|
|
|
NM_001267550.2(TTN):c.915-7dup
|
rs730880351
|
|
|
NM_001267550.2(TTN):c.91610TTA[1] (p.Ile30538del)
|
rs754953607
|
|
|
NM_001267550.2(TTN):c.91884A>G (p.Arg30628=)
|
rs144922355
|
|
|
NM_001267550.2(TTN):c.92871T>C (p.Ala30957=)
|
rs748822553
|
|
|
NM_001267550.2(TTN):c.9290T>C (p.Leu3097Pro)
|
rs373366126
|
|
|
NM_001267550.2(TTN):c.93129C>T (p.Asp31043=)
|
rs758336721
|
|
|
NM_001267550.2(TTN):c.93168A>T (p.Arg31056=)
|
rs1202181464
|
|
|
NM_001267550.2(TTN):c.94282C>A (p.Arg31428Ser)
|
rs190282707
|
|
|
NM_001267550.2(TTN):c.94282C>G (p.Arg31428Gly)
|
rs190282707
|
|
|
NM_001267550.2(TTN):c.94524T>C (p.Asp31508=)
|
rs727505200
|
|
|
NM_001267550.2(TTN):c.95598C>T (p.Thr31866=)
|
rs1553520323
|
|
|
NM_001267550.2(TTN):c.95649G>A (p.Val31883=)
|
rs1553520236
|
|
|
NM_001267550.2(TTN):c.9618T>C (p.Phe3206=)
|
rs878971586
|
|
|
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn)
|
rs200540781
|
|
|
NM_001267550.2(TTN):c.9714G>A (p.Pro3238=)
|
rs886042397
|
|
|
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro)
|
rs55704830
|
|
|
NM_001267550.2(TTN):c.97976A>T (p.Glu32659Val)
|
|
|
|
NM_001267550.2(TTN):c.98721C>T (p.Leu32907=)
|
rs375361462
|
|
|
NM_001267550.2(TTN):c.98893G>A (p.Asp32965Asn)
|
rs186405108
|
|
|
NM_001267550.2(TTN):c.98893G>C (p.Asp32965His)
|
rs186405108
|
|
|
NM_001267550.2(TTN):c.98919C>T (p.Ile32973=)
|
rs776133124
|
|
|
NM_001267550.2(TTN):c.98959_98960delinsCT (p.Ser32987Leu)
|
rs727504588
|
|
|
NM_001267550.2(TTN):c.99567C>T (p.Leu33189=)
|
rs745708104
|
|
|
NM_001267550.2(TTN):c.99643C>T (p.Arg33215Trp)
|
|
|
|
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu)
|
rs397517781
|
|
|
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys)
|
rs775769503
|
|
|
NM_001270508.2(TNFAIP3):c.207C>G (p.Ile69Met)
|
rs548932103
|
|
|
NM_001271.4(CHD2):c.2189+8C>T
|
rs1486555733
|
|
|
NM_001271.4(CHD2):c.4511A>G (p.Asn1504Ser)
|
rs2141881607
|
|
|
NM_001271.4(CHD2):c.4901A>T (p.Asn1634Ile)
|
rs761860129
|
|
|
NM_001271.4(CHD2):c.692+10A>G
|
rs370469675
|
|
|
NM_001272071.2(AP1S2):c.252T>C (p.His84=)
|
rs727503807
|
|
|
NM_001273.5(CHD4):c.399GGA[6] (p.Glu139del)
|
rs71584865
|
|
|
NM_001276270.2(MBD4):c.1576A>G (p.Ile526Val)
|
|
|
|
NM_001276270.2(MBD4):c.336C>T (p.Ser112=)
|
|
|
|
NM_001276270.2(MBD4):c.572C>T (p.Pro191Leu)
|
|
|
|
NM_001276345.2(TNNT2):c.270C>G (p.Pro90=)
|
rs140245123
|
|
|
NM_001276345.2(TNNT2):c.610-10C>T
|
rs375547142
|
|
|
NM_001277058.2(ERCC6):c.2378A>G (p.Tyr793Cys)
|
|
|
|
NM_001277115.2(DNAH11):c.10333-5T>G
|
|
|
|
NM_001277115.2(DNAH11):c.10573T>C (p.Leu3525=)
|
rs886062182
|
|
|
NM_001277115.2(DNAH11):c.10748T>C (p.Leu3583Pro)
|
|
|
|
NM_001277115.2(DNAH11):c.1084G>C (p.Ala362Pro)
|
rs771256529
|
|
|
NM_001277115.2(DNAH11):c.11062-4A>G
|
|
|
|
NM_001277115.2(DNAH11):c.11096A>G (p.Asn3699Ser)
|
|
|
|
NM_001277115.2(DNAH11):c.11534G>T (p.Arg3845Leu)
|
rs371438607
|
|
|
NM_001277115.2(DNAH11):c.11900G>T (p.Gly3967Val)
|
|
|
|
NM_001277115.2(DNAH11):c.11956G>A (p.Val3986Ile)
|
|
|
|
NM_001277115.2(DNAH11):c.13070G>A (p.Arg4357Gln)
|
|
|
|
NM_001277115.2(DNAH11):c.13113G>A (p.Pro4371=)
|
rs148707462
|
|
|
NM_001277115.2(DNAH11):c.13120G>A (p.Val4374Met)
|
|
|
|
NM_001277115.2(DNAH11):c.13176G>A (p.Thr4392=)
|
rs79449551
|
|
|
NM_001277115.2(DNAH11):c.1408C>A (p.Arg470Ser)
|
|
|
|
NM_001277115.2(DNAH11):c.1667G>A (p.Cys556Tyr)
|
|
|
|
NM_001277115.2(DNAH11):c.180C>T (p.Arg60=)
|
rs781089233
|
|
|
NM_001277115.2(DNAH11):c.2374A>C (p.Ile792Leu)
|
rs762314534
|
|
|
NM_001277115.2(DNAH11):c.3969A>G (p.Ile1323Met)
|
|
|
|
NM_001277115.2(DNAH11):c.4037C>T (p.Thr1346Ile)
|
|
|
|
NM_001277115.2(DNAH11):c.4106C>T (p.Ser1369Leu)
|
|
|
|
NM_001277115.2(DNAH11):c.4168A>G (p.Met1390Val)
|
|
|
|
NM_001277115.2(DNAH11):c.447A>G (p.Gly149=)
|
rs886062170
|
|
|
NM_001277115.2(DNAH11):c.4945-5T>G
|
rs886038468
|
|
|
NM_001277115.2(DNAH11):c.5157A>G (p.Thr1719=)
|
rs149538783
|
|
|
NM_001277115.2(DNAH11):c.5242A>G (p.Ile1748Val)
|
|
|
|
NM_001277115.2(DNAH11):c.5692G>A (p.Gly1898Arg)
|
|
|
|
NM_001277115.2(DNAH11):c.5947A>G (p.Ile1983Val)
|
|
|
|
NM_001277115.2(DNAH11):c.5984T>C (p.Met1995Thr)
|
rs1465555535
|
|
|
NM_001277115.2(DNAH11):c.6078C>G (p.Ile2026Met)
|
|
|
|
NM_001277115.2(DNAH11):c.6210T>G (p.Ile2070Met)
|
|
|
|
NM_001277115.2(DNAH11):c.6273+9A>G
|
rs192777767
|
|
|
NM_001277115.2(DNAH11):c.6594G>A (p.Pro2198=)
|
rs200894470
|
|
|
NM_001277115.2(DNAH11):c.6898A>G (p.Ile2300Val)
|
rs767273694
|
|
|
NM_001277115.2(DNAH11):c.7186G>A (p.Asp2396Asn)
|
|
|
|
NM_001277115.2(DNAH11):c.7525G>A (p.Val2509Ile)
|
rs1259559217
|
|
|
NM_001277115.2(DNAH11):c.8023A>G (p.Ile2675Val)
|
rs72657364
|
|
|
NM_001277115.2(DNAH11):c.8511-15G>A
|
rs111471486
|
|
|
NM_001277115.2(DNAH11):c.8821G>A (p.Asp2941Asn)
|
rs776368544
|
|
|
NM_001277115.2(DNAH11):c.883-4T>G
|
|
|
|
NM_001277115.2(DNAH11):c.9044C>T (p.Pro3015Leu)
|
rs749849152
|
|
|
NM_001277115.2(DNAH11):c.9312A>G (p.Gln3104=)
|
rs886062181
|
|
|
NM_001277115.2(DNAH11):c.956A>G (p.Lys319Arg)
|
|
|
|
NM_001277115.2(DNAH11):c.9602A>G (p.Asn3201Ser)
|
rs762025592
|
|
|
NM_001277115.2(DNAH11):c.9664G>A (p.Val3222Met)
|
|
|
|
NM_001277269.2(OTOG):c.7517-5_7518dup
|
rs1295062471
|
|
|
NM_001277313.2(FMN1):c.2044-2618G>A
|
|
|
|
NM_001277313.2(FMN1):c.2223+4T>A
|
|
|
|
NM_001277313.2(FMN1):c.382C>T (p.Pro128Ser)
|
|
|
|
NM_001277313.2(FMN1):c.9C>T (p.Gly3=)
|
|
|
|
NM_001278.5(CHUK):c.385+4C>A
|
|
|
|
NM_001278064.2(GRM1):c.2796C>G (p.Pro932=)
|
rs1583494731
|
|
|
NM_001278064.2(GRM1):c.3138G>A (p.Pro1046=)
|
|
|
|
NM_001278064.2(GRM1):c.885A>C (p.Thr295=)
|
|
|
|
NM_001278116.2(L1CAM):c.1234C>G (p.Leu412Val)
|
|
|
|
NM_001278116.2(L1CAM):c.1864G>A (p.Asp622Asn)
|
|
|
|
NM_001278116.2(L1CAM):c.2137+5_2137+6insGGCAGGTGT
|
rs398123361
|
|
|
NM_001278116.2(L1CAM):c.2750-6C>T
|
|
|
|
NM_001278116.2(L1CAM):c.3020G>A (p.Arg1007Gln)
|
|
|
|
NM_001278116.2(L1CAM):c.892C>G (p.Gln298Glu)
|
|
|
|
NM_001278512.2(AP3B2):c.1665+6G>A
|
|
|
|
NM_001282531.3(ADNP):c.1141G>C (p.Gly381Arg)
|
rs1057523567
|
|
|
NM_001282531.3(ADNP):c.1704A>G (p.Thr568=)
|
rs376377223
|
|
|
NM_001282531.3(ADNP):c.2968G>A (p.Glu990Lys)
|
rs531230573
|
|
|
NM_001282531.3(ADNP):c.2978C>G (p.Pro993Arg)
|
rs1251589256
|
|
|
NM_001282531.3(ADNP):c.3099T>C (p.Tyr1033=)
|
|
|
|
NM_001282531.3(ADNP):c.3166C>T (p.Arg1056Cys)
|
|
|
|
NM_001282531.3(ADNP):c.3207T>A (p.Ile1069=)
|
|
|
|
NM_001282531.3(ADNP):c.861C>T (p.Ile287=)
|
|
|
|
NM_001282531.3(ADNP):c.921C>G (p.Leu307=)
|
rs772948560
|
|
|
NM_001283009.2(RTEL1):c.2040G>T (p.Gln680His)
|
|
|
|
NM_001283009.2(RTEL1):c.2840A>G (p.Asn947Ser)
|
rs761268803
|
|
|
NM_001283009.2(RTEL1):c.2898G>A (p.Glu966=)
|
rs115464632
|
|
|
NM_001283009.2(RTEL1):c.2966G>A (p.Arg989Gln)
|
|
|
|
NM_001283009.2(RTEL1):c.2990C>G (p.Thr997Ser)
|
rs1046295138
|
|
|
NM_001283009.2(RTEL1):c.3343+8G>A
|
rs768036242
|
|
|
NM_001283009.2(RTEL1):c.3381C>T (p.Arg1127=)
|
rs368588082
|
|
|
NM_001283009.2(RTEL1):c.732G>A (p.Gly244=)
|
rs919917378
|
|
|
NM_001283009.2(RTEL1):c.900C>T (p.Ser300=)
|
rs146100165
|
|
|
NM_001286.5(CLCN6):c.1531A>G (p.Ile511Val)
|
|
|
|
NM_001286445.3(RIPOR2):c.368C>T (p.Thr123Met)
|
rs145166802
|
|
|
NM_001286577.2(C2CD3):c.1448T>C (p.Leu483Pro)
|
|
|
|
NM_001286577.2(C2CD3):c.1594C>G (p.Leu532Val)
|
|
|
|
NM_001287.6(CLCN7):c.2021G>A (p.Arg674Gln)
|
rs758816489
|
|
|
NM_001287491.2(TET3):c.3638G>A (p.Gly1213Asp)
|
|
|
|
NM_001288705.3(CSF1R):c.1132C>T (p.Arg378Cys)
|
rs570645140
|
|
|
NM_001288705.3(CSF1R):c.2257C>T (p.Arg753Trp)
|
|
|
|
NM_001288705.3(CSF1R):c.487A>G (p.Thr163Ala)
|
|
|
|
NM_001288705.3(CSF1R):c.592+5G>A
|
|
|
|
NM_001289104.2(PRKCSH):c.812G>A (p.Arg271His)
|
|
|
|
NM_001291303.3(FAT4):c.2214C>A (p.Val738=)
|
|
|
|
NM_001291303.3(FAT4):c.2705TGG[1] (p.Val903del)
|
rs541157165
|
|
|
NM_001291415.2(KDM6A):c.1739C>T (p.Thr580Ile)
|
|
|
|
NM_001291415.2(KDM6A):c.65A>C (p.Glu22Ala)
|
rs760601613
|
|
|
NM_001291867.2(NHS):c.4428_4430dup (p.Ser1480dup)
|
rs398124609
|
|
|
NM_001292063.2(OTOG):c.1042G>A (p.Ala348Thr)
|
rs191354103
|
|
|
NM_001292063.2(OTOG):c.4102C>A (p.Arg1368=)
|
|
|
|
NM_001292063.2(OTOG):c.521_523del (p.Gly174_Gln175delinsGlu)
|
|
|
|
NM_001292063.2(OTOG):c.6179G>T (p.Arg2060Leu)
|
rs188527711
|
|
|
NM_001292063.2(OTOG):c.6667G>A (p.Val2223Met)
|
rs572886375
|
|
|
NM_001292063.2(OTOG):c.6712+6G>A
|
|
|
|
NM_001292063.2(OTOG):c.8036G>A (p.Arg2679His)
|
rs766229978
|
|
|
NM_001297.5(CNGB1):c.1089GGA[4] (p.Glu371del)
|
rs141566950
|
|
|
NM_001297.5(CNGB1):c.2853C>A (p.Asp951Glu)
|
rs7190978
|
|
|
NM_001297.5(CNGB1):c.49C>T (p.Arg17Trp)
|
rs200694933
|
|
|
NM_001301071.2(DOK7):c.1499G>A (p.Gly500Glu)
|
rs577616504
|
|
|
NM_001303.4(COX10):c.1104C>A (p.Ser368=)
|
rs753622725
|
|
|
NM_001304438.2(TMEM132E):c.1640G>A (p.Arg547His)
|
|
|
|
NM_001308093.3(GATA4):c.333G>A (p.Pro111=)
|
rs1331416104
|
|
|
NM_001308093.3(GATA4):c.357CGC[5] (p.Ala126dup)
|
rs1182566703
|
|
|
NM_001312909.2(FAM111A):c.1285C>A (p.Pro429Thr)
|
rs149508004
|
|
|
NM_001322934.2(NFKB2):c.2598T>C (p.Ser866=)
|
|
|
|
NM_001323289.2(CDKL5):c.1455_1460del (p.Ala486_Lys487del)
|
rs587783114
|
|
|
NM_001323289.2(CDKL5):c.2157A>G (p.Pro719=)
|
|
|
|
NM_001329.4(CTBP2):c.1218C>A (p.Ile406=)
|
rs796230948
|
|
|
NM_001329943.3(KIAA0586):c.64C>T (p.Arg22Cys)
|
rs202124602
|
|
|
NM_001330078.2(NRXN1):c.1843C>T (p.Leu615=)
|
rs201029409
|
|
|
NM_001330078.2(NRXN1):c.2507C>T (p.Ala836Val)
|
rs199557987
|
|
|
NM_001330078.2(NRXN1):c.3618C>T (p.Ile1206=)
|
rs1573859191
|
|
|
NM_001330078.2(NRXN1):c.543G>A (p.Lys181=)
|
rs1670775186
|
|
|
NM_001330078.2(NRXN1):c.772+9del
|
rs755130575
|
|
|
NM_001330260.2(SCN8A):c.2726A>G (p.Asn909Ser)
|
|
|
|
NM_001330260.2(SCN8A):c.3060G>A (p.Gln1020=)
|
rs528718802
|
|
|
NM_001330288.2(SMARCC2):c.3575C>T (p.Pro1192Leu)
|
|
|
|
NM_001330360.2(POLA1):c.2566+6G>A
|
|
|
|
NM_001330588.2(TPP2):c.3657G>A (p.Val1219=)
|
rs2139626228
|
|
|
NM_001330691.3(CEP78):c.779-8A>G
|
rs1040280976
|
|
|
NM_001330700.2(TOP2B):c.1800+6C>T
|
|
|
|
NM_001332.4(CTNND2):c.1480G>A (p.Gly494Ser)
|
rs34001856
|
|
|
NM_001347721.2(DYRK1A):c.300+7C>T
|
rs537532878
|
|
|
NM_001348800.3(ZBTB20):c.11G>A (p.Arg4Gln)
|
|
|
|
NM_001348800.3(ZBTB20):c.491G>A (p.Arg164Gln)
|
rs1455665941
|
|
|
NM_001348800.3(ZBTB20):c.85G>A (p.Ala29Thr)
|
|
|
|
NM_001349.4(DARS1):c.10GCCAGC[3] (p.4AS[3])
|
rs551090724
|
|
|
NM_001349206.2(LPIN1):c.1852G>A (p.Gly618Arg)
|
rs146100011
|
|
|
NM_001349206.2(LPIN1):c.2223C>T (p.Ile741=)
|
|
|
|
NM_001349206.2(LPIN1):c.928C>T (p.Leu310=)
|
rs757007907
|
|
|
NM_001349338.3(FOXP1):c.*1669dup
|
rs886058842
|
|
|
NM_001349338.3(FOXP1):c.*3192del
|
rs535202716
|
|
|
NM_001349338.3(FOXP1):c.*3391TG[10]
|
rs143202281
|
|
|
NM_001349338.3(FOXP1):c.1162A>T (p.Ser388Cys)
|
|
|
|
NM_001349338.3(FOXP1):c.184C>T (p.Leu62Phe)
|
rs538443416
|
|
|
NM_001349338.3(FOXP1):c.665-7_665-4del
|
rs1453915867
|
|
|
NM_001349338.3(FOXP1):c.728A>G (p.Glu243Gly)
|
|
|
|
NM_001351132.2(PEX5):c.135G>C (p.Pro45=)
|
rs761885230
|
|
|
NM_001351132.2(PEX5):c.147+32_147+121del
|
|
|
|
NM_001351132.2(PEX5):c.147+77_147+121del
|
|
|
|
NM_001351132.2(PEX5):c.48G>A (p.Pro16=)
|
rs147958315
|
|
|
NM_001352027.3(PHF21A):c.1339A>G (p.Thr447Ala)
|
|
|
|
NM_001352514.2(HLCS):c.1668C>A (p.Ser556=)
|
rs771923409
|
|
|
NM_001352514.2(HLCS):c.1977G>A (p.Val659=)
|
rs886057075
|
|
|
NM_001352514.2(HLCS):c.2418C>T (p.Val806=)
|
rs759416272
|
|
|
NM_001352514.2(HLCS):c.2529G>A (p.Gln843=)
|
rs767700692
|
|
|
NM_001352514.2(HLCS):c.737A>G (p.Tyr246Cys)
|
rs765150200
|
|
|
NM_001352913.2(PPP2R5C):c.1649G>T (p.Arg550Leu)
|
|
|
|
NM_001353108.3(CEP63):c.499G>A (p.Val167Ile)
|
|
|
|
NM_001353694.2(TIAM1):c.610G>A (p.Glu204Lys)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1497T>G (p.Phe499Leu)
|
rs2147114173
|
|
|
NM_001353921.2(ARHGEF9):c.180G>A (p.Glu60=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.816-9T>C
|
rs1057522347
|
|
|
NM_001354483.2(CSGALNACT1):c.40C>A (p.Arg14=)
|
rs117494579
|
|
|
NM_001354604.2(MITF):c.*7C>G
|
|
|
|
NM_001354604.2(MITF):c.1150G>A (p.Ala384Thr)
|
rs202020443
|
|
|
NM_001354604.2(MITF):c.1517G>A (p.Gly506Glu)
|
rs548265796
|
|
|
NM_001354604.2(MITF):c.505A>G (p.Met169Val)
|
rs143224466
|
|
|
NM_001354604.2(MITF):c.583-9T>C
|
rs1576007776
|
|
|
NM_001354604.2(MITF):c.639C>T (p.Asn213=)
|
rs137944487
|
|
|
NM_001354930.2(RIPK1):c.607G>T (p.Ala203Ser)
|
rs149432620
|
|
|
NM_001355436.2(SPTB):c.1523G>A (p.Arg508His)
|
|
|
|
NM_001355436.2(SPTB):c.228C>G (p.Thr76=)
|
rs748108358
|
|
|
NM_001355436.2(SPTB):c.2656G>T (p.Val886Leu)
|
rs146031194
|
|
|
NM_001355436.2(SPTB):c.2696C>T (p.Thr899Ile)
|
|
|
|
NM_001355436.2(SPTB):c.3154G>A (p.Gly1052Ser)
|
|
|
|
NM_001355436.2(SPTB):c.5689A>G (p.Thr1897Ala)
|
|
|
|
NM_001355436.2(SPTB):c.65G>A (p.Arg22His)
|
|
|
|
NM_001355436.2(SPTB):c.6748AAG[3] (p.Lys2253del)
|
|
|
|
NM_001356.5(DDX3X):c.1203C>T (p.Ile401=)
|
|
|
|
NM_001356.5(DDX3X):c.1815_1817del (p.Ser606del)
|
rs2063940085
|
|
|
NM_001356.5(DDX3X):c.596G>A (p.Arg199His)
|
|
|
|
NM_001358530.2(MOCS1):c.301C>T (p.Leu101=)
|
rs111640560
|
|
|
NM_001358530.2(MOCS1):c.339C>T (p.Leu113=)
|
rs762810343
|
|
|
NM_001358921.2(COQ2):c.138dup (p.Ala47fs)
|
rs759310292
|
|
|
NM_001358921.2(COQ2):c.421-9T>C
|
|
|
|
NM_001360.3(DHCR7):c.1273G>A (p.Gly425Ser)
|
rs760242
|
|
|
NM_001360.3(DHCR7):c.231C>G (p.Thr77=)
|
rs4316537
|
|
|
NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser)
|
rs146867923
|
|
|
NM_001360.3(DHCR7):c.906C>T (p.Phe302=)
|
rs80338858
|
|
|
NM_001360016.2(G6PD):c.1288-14TC[2]
|
rs199586268
|
|
|
NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr)
|
rs1050829
|
|
|
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del)
|
rs782576893
|
|
|
NM_001363.5(DKC1):c.915+10G>A
|
rs1603429509
|
|
|
NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp)
|
rs117500243
|
|
|
NM_001363711.2(DUOX2):c.3830C>G (p.Ala1277Gly)
|
rs143471358
|
|
|
NM_001363711.2(DUOX2):c.4239+3G>T
|
|
|
|
NM_001364171.2(ODAD1):c.598-5C>G
|
|
|
|
NM_001364905.1(LRBA):c.114G>T (p.Gly38=)
|
rs72721739
|
|
|
NM_001364905.1(LRBA):c.3789C>T (p.Asn1263=)
|
rs150689413
|
|
|
NM_001364905.1(LRBA):c.3805C>G (p.Pro1269Ala)
|
rs555169864
|
|
|
NM_001364905.1(LRBA):c.8468+10del
|
rs1454498033
|
|
|
NM_001365088.1(SLC12A6):c.1551G>A (p.Pro517=)
|
rs17236798
|
|
|
NM_001365088.1(SLC12A6):c.1650-7T>C
|
rs752125669
|
|
|
NM_001365088.1(SLC12A6):c.2163A>C (p.Gly721=)
|
|
|
|
NM_001365088.1(SLC12A6):c.411+10del
|
rs377536268
|
|
|
NM_001365276.2(TNXB):c.12224G>A (p.Arg4075His)
|
rs201510617
|
|
|
NM_001365276.2(TNXB):c.1259T>C (p.Val420Ala)
|
rs200226242
|
|
|
NM_001365276.2(TNXB):c.3763C>G (p.Arg1255Gly)
|
rs376472382
|
|
|
NM_001365276.2(TNXB):c.4244C>T (p.Ala1415Val)
|
rs770309992
|
|
|
NM_001365276.2(TNXB):c.5285G>A (p.Arg1762Gln)
|
|
|
|
NM_001365276.2(TNXB):c.5603C>T (p.Thr1868Met)
|
|
|
|
NM_001365276.2(TNXB):c.5625G>T (p.Pro1875=)
|
|
|
|
NM_001365276.2(TNXB):c.5870A>G (p.His1957Arg)
|
|
|
|
NM_001365276.2(TNXB):c.6277G>C (p.Ala2093Pro)
|
|
|
|
NM_001365276.2(TNXB):c.6973G>A (p.Val2325Ile)
|
rs140304758
|
|
|
NM_001365276.2(TNXB):c.7399G>A (p.Gly2467Arg)
|
|
|
|
NM_001365276.2(TNXB):c.7493-4del
|
rs1352801514
|
|
|
NM_001365276.2(TNXB):c.9195G>A (p.Glu3065=)
|
rs201944713
|
|
|
NM_001365276.2(TNXB):c.9242T>C (p.Met3081Thr)
|
|
|
|
NM_001365308.1(BMPER):c.1404A>G (p.Lys468=)
|
|
|
|
NM_001365951.3(KIF1B):c.430-9del
|
rs771477893
|
|
|
NM_001365951.3(KIF1B):c.883-10_883-7del
|
rs886044975
|
|
|
NM_001365999.1(SZT2):c.10156-3_10156-2del
|
rs761016357
|
|
|
NM_001365999.1(SZT2):c.5089-4_5089-3del
|
rs762645558
|
|
|
NM_001365999.1(SZT2):c.5603-11A>G
|
rs199939853
|
|
|
NM_001365999.1(SZT2):c.5687C>T (p.Pro1896Leu)
|
|
|
|
NM_001365999.1(SZT2):c.7020G>A (p.Pro2340=)
|
rs375793150
|
|
|
NM_001365999.1(SZT2):c.8420-13C>G
|
rs368330210
|
|
|
NM_001366722.1(GRIP1):c.*1261dup
|
rs35499444
|
|
|
NM_001366722.1(GRIP1):c.1873G>A (p.Ala625Thr)
|
|
|
|
NM_001366722.1(GRIP1):c.2464+3A>G
|
|
|
|
NM_001367624.2(ZNF469):c.10079G>T (p.Ser3360Ile)
|
rs929128705
|
|
|
NM_001367624.2(ZNF469):c.10325G>T (p.Arg3442Met)
|
rs199528724
|
|
|
NM_001367624.2(ZNF469):c.10327G>A (p.Gly3443Arg)
|
|
|
|
NM_001367624.2(ZNF469):c.10331G>T (p.Gly3444Val)
|
rs530393871
|
|
|
NM_001367624.2(ZNF469):c.11105C>T (p.Ala3702Val)
|
|
|
|
NM_001367624.2(ZNF469):c.1303G>A (p.Ala435Thr)
|
|
|
|
NM_001367624.2(ZNF469):c.1363C>A (p.Pro455Thr)
|
|
|
|
NM_001367624.2(ZNF469):c.1528_1529delinsAC (p.Gly510Thr)
|
rs1555518716
|
|
|
NM_001367624.2(ZNF469):c.2130_2132delinsCCG (p.Pro711Arg)
|
|
|
|
NM_001367624.2(ZNF469):c.2132C>G (p.Pro711Arg)
|
rs571184307
|
|
|
NM_001367624.2(ZNF469):c.2572C>A (p.Pro858Thr)
|
|
|
|
NM_001367624.2(ZNF469):c.2908GGC[2] (p.Gly972_Gly973del)
|
rs775423936
|
|
|
NM_001367624.2(ZNF469):c.3759G>A (p.Ala1253=)
|
rs543669472
|
|
|
NM_001367624.2(ZNF469):c.3954C>A (p.Asp1318Glu)
|
|
|
|
NM_001367624.2(ZNF469):c.4343_4344delinsTA (p.Pro1448Leu)
|
|
|
|
NM_001367624.2(ZNF469):c.4529TGC[1] (p.Leu1511del)
|
rs555544144
|
|
|
NM_001367624.2(ZNF469):c.457C>A (p.Pro153Thr)
|
rs532620482
|
|
|
NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala)
|
rs532620482
|
|
|
NM_001367624.2(ZNF469):c.4998G>A (p.Pro1666=)
|
|
|
|
NM_001367624.2(ZNF469):c.520G>A (p.Ala174Thr)
|
|
|
|
NM_001367624.2(ZNF469):c.5340C>G (p.Pro1780=)
|
rs184374078
|
|
|
NM_001367624.2(ZNF469):c.535G>A (p.Gly179Ser)
|
|
|
|
NM_001367624.2(ZNF469):c.6035C>T (p.Thr2012Met)
|
|
|
|
NM_001367624.2(ZNF469):c.6088A>G (p.Thr2030Ala)
|
|
|
|
NM_001367624.2(ZNF469):c.6122G>T (p.Gly2041Val)
|
|
|
|
NM_001367624.2(ZNF469):c.6200C>T (p.Ala2067Val)
|
|
|
|
NM_001367624.2(ZNF469):c.646A>G (p.Thr216Ala)
|
rs1905827976
|
|
|
NM_001367624.2(ZNF469):c.6978C>G (p.His2326Gln)
|
rs185282301
|
|
|
NM_001367624.2(ZNF469):c.725_726delinsTT (p.Ser242Ile)
|
rs886043704
|
|
|
NM_001367624.2(ZNF469):c.7861G>A (p.Val2621Met)
|
|
|
|
NM_001367624.2(ZNF469):c.7930C>T (p.Arg2644Trp)
|
|
|
|
NM_001367624.2(ZNF469):c.8077C>T (p.Pro2693Ser)
|
|
|
|
NM_001367624.2(ZNF469):c.8182C>T (p.Arg2728Trp)
|
rs143073976
|
|
|
NM_001367624.2(ZNF469):c.833C>T (p.Pro278Leu)
|
|
|
|
NM_001367624.2(ZNF469):c.8429C>T (p.Ala2810Val)
|
|
|
|
NM_001367624.2(ZNF469):c.8720G>C (p.Arg2907Pro)
|
|
|
|
NM_001367624.2(ZNF469):c.8729C>T (p.Thr2910Met)
|
|
|
|
NM_001367624.2(ZNF469):c.9242C>A (p.Thr3081Lys)
|
|
|
|
NM_001367624.2(ZNF469):c.9695C>T (p.Thr3232Met)
|
|
|
|
NM_001367624.2(ZNF469):c.9772C>A (p.Gln3258Lys)
|
rs2142314561
|
|
|
NM_001367721.1(CASK):c.1215A>G (p.Ala405=)
|
rs1555989329
|
|
|
NM_001367721.1(CASK):c.1224A>G (p.Arg408=)
|
rs1555989321
|
|
|
NM_001367721.1(CASK):c.1314+5_1314+8del
|
rs772325722
|
|
|
NM_001367721.1(CASK):c.1669-6dup
|
rs746809939
|
|
|
NM_001367721.1(CASK):c.1669-7C>G
|
rs780719523
|
|
|
NM_001367721.1(CASK):c.2277C>T (p.Leu759=)
|
rs758345399
|
|
|
NM_001367805.3(KIF23):c.1115-3C>T
|
|
|
|
NM_001367916.1(MAGT1):c.16C>T (p.Arg6Trp)
|
rs140854076
|
|
|
NM_001368067.1(LDB3):c.456G>T (p.Ala152=)
|
rs371708921
|
|
|
NM_001368397.1(FRMPD4):c.3937C>A (p.Arg1313=)
|
rs41303149
|
|
|
NM_001368397.1(FRMPD4):c.42-9C>A
|
rs765633648
|
|
|
NM_001369.3(DNAH5):c.10044C>T (p.Pro3348=)
|
rs369902800
|
|
|
NM_001369.3(DNAH5):c.10405A>G (p.Met3469Val)
|
|
|
|
NM_001369.3(DNAH5):c.10552G>C (p.Val3518Leu)
|
|
|
|
NM_001369.3(DNAH5):c.10639C>G (p.Arg3547Gly)
|
rs747041428
|
|
|
NM_001369.3(DNAH5):c.11128C>T (p.Arg3710Cys)
|
|
|
|
NM_001369.3(DNAH5):c.11623A>G (p.Met3875Val)
|
rs1044439678
|
|
|
NM_001369.3(DNAH5):c.11726G>A (p.Arg3909Gln)
|
rs761043906
|
|
|
NM_001369.3(DNAH5):c.11803T>A (p.Ser3935Thr)
|
rs145685491
|
|
|
NM_001369.3(DNAH5):c.12033+7A>C
|
rs77541151
|
|
|
NM_001369.3(DNAH5):c.12151A>G (p.Met4051Val)
|
rs138162689
|
|
|
NM_001369.3(DNAH5):c.12223A>G (p.Met4075Val)
|
|
|
|
NM_001369.3(DNAH5):c.12379C>T (p.Arg4127Cys)
|
rs148696723
|
|
|
NM_001369.3(DNAH5):c.12513C>A (p.Asp4171Glu)
|
rs547445590
|
|
|
NM_001369.3(DNAH5):c.1252G>A (p.Ala418Thr)
|
|
|
|
NM_001369.3(DNAH5):c.12685G>A (p.Asp4229Asn)
|
|
|
|
NM_001369.3(DNAH5):c.12709G>T (p.Val4237Phe)
|
rs138045391
|
|
|
NM_001369.3(DNAH5):c.12936G>A (p.Glu4312=)
|
rs773285536
|
|
|
NM_001369.3(DNAH5):c.12975G>C (p.Gln4325His)
|
|
|
|
NM_001369.3(DNAH5):c.13385T>C (p.Ile4462Thr)
|
|
|
|
NM_001369.3(DNAH5):c.13485G>A (p.Met4495Ile)
|
|
|
|
NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu)
|
rs151080414
|
|
|
NM_001369.3(DNAH5):c.1475C>A (p.Thr492Lys)
|
rs189145014
|
|
|
NM_001369.3(DNAH5):c.1585C>T (p.Arg529Trp)
|
rs200452908
|
|
|
NM_001369.3(DNAH5):c.1602C>A (p.Asp534Glu)
|
rs753367747
|
|
|
NM_001369.3(DNAH5):c.1884G>A (p.Leu628=)
|
rs534702284
|
|
|
NM_001369.3(DNAH5):c.2193C>T (p.Val731=)
|
rs766072810
|
|
|
NM_001369.3(DNAH5):c.3210G>C (p.Gln1070His)
|
|
|
|
NM_001369.3(DNAH5):c.3248A>T (p.Glu1083Val)
|
|
|
|
NM_001369.3(DNAH5):c.358G>A (p.Asp120Asn)
|
|
|
|
NM_001369.3(DNAH5):c.3640A>G (p.Met1214Val)
|
rs766505155
|
|
|
NM_001369.3(DNAH5):c.4960C>T (p.Arg1654Trp)
|
|
|
|
NM_001369.3(DNAH5):c.496C>T (p.Arg166Cys)
|
|
|
|
NM_001369.3(DNAH5):c.4972A>G (p.Ile1658Val)
|
rs535557021
|
|
|
NM_001369.3(DNAH5):c.5021G>T (p.Ser1674Ile)
|
rs1024785789
|
|
|
NM_001369.3(DNAH5):c.5272-15dup
|
rs35337694
|
|
|
NM_001369.3(DNAH5):c.5281C>A (p.Arg1761=)
|
rs148891849
|
|
|
NM_001369.3(DNAH5):c.5282G>A (p.Arg1761Gln)
|
|
|
|
NM_001369.3(DNAH5):c.532G>A (p.Ala178Thr)
|
|
|
|
NM_001369.3(DNAH5):c.5583G>T (p.Gln1861His)
|
|
|
|
NM_001369.3(DNAH5):c.57G>T (p.Thr19=)
|
rs142969794
|
|
|
NM_001369.3(DNAH5):c.6001G>A (p.Val2001Ile)
|
|
|
|
NM_001369.3(DNAH5):c.6049C>T (p.Arg2017Trp)
|
rs143679999
|
|
|
NM_001369.3(DNAH5):c.6265G>A (p.Gly2089Arg)
|
|
|
|
NM_001369.3(DNAH5):c.6676A>G (p.Ile2226Val)
|
rs750936569
|
|
|
NM_001369.3(DNAH5):c.6989-7_6989-5dup
|
rs1460888052
|
|
|
NM_001369.3(DNAH5):c.7459G>A (p.Ala2487Thr)
|
|
|
|
NM_001369.3(DNAH5):c.7525C>T (p.Arg2509Cys)
|
rs531393117
|
|
|
NM_001369.3(DNAH5):c.7571C>T (p.Pro2524Leu)
|
|
|
|
NM_001369.3(DNAH5):c.7631C>T (p.Thr2544Met)
|
|
|
|
NM_001369.3(DNAH5):c.8537C>T (p.Ala2846Val)
|
|
|
|
NM_001369.3(DNAH5):c.8782A>G (p.Met2928Val)
|
|
|
|
NM_001369.3(DNAH5):c.8803A>G (p.Met2935Val)
|
|
|
|
NM_001369.3(DNAH5):c.9125G>A (p.Arg3042Gln)
|
rs200839716
|
|
|
NM_001369.3(DNAH5):c.9125G>T (p.Arg3042Leu)
|
|
|
|
NM_001369.3(DNAH5):c.9230G>T (p.Arg3077Leu)
|
rs113742238
|
|
|
NM_001369.3(DNAH5):c.935T>G (p.Val312Gly)
|
rs762677340
|
|
|
NM_001369.3(DNAH5):c.9517G>A (p.Val3173Met)
|
|
|
|
NM_001369.3(DNAH5):c.9677C>T (p.Ala3226Val)
|
rs192262838
|
|
|
NM_001369.3(DNAH5):c.9706G>A (p.Asp3236Asn)
|
|
|
|
NM_001369.3(DNAH5):c.9751G>T (p.Ala3251Ser)
|
rs139293893
|
|
|
NM_001369.3(DNAH5):c.986A>G (p.Glu329Gly)
|
|
|
|
NM_001369.3(DNAH5):c.9907C>A (p.Pro3303Thr)
|
rs770166503
|
|
|
NM_001369.3(DNAH5):c.9976G>A (p.Val3326Ile)
|
rs149452082
|
|
|
NM_001369268.1(ACAN):c.5318T>C (p.Leu1773Pro)
|
|
|
|
NM_001369268.1(ACAN):c.7531C>T (p.Arg2511Trp)
|
|
|
|
NM_001369369.1(FOXN1):c.123+10C>T
|
rs575898161
|
|
|
NM_001370259.2(MEN1):c.1154C>T (p.Ala385Val)
|
rs1298484645
|
|
|
NM_001370259.2(MEN1):c.1166G>A (p.Arg389Gln)
|
rs775267651
|
|
|
NM_001370259.2(MEN1):c.1186-10C>T
|
rs762303621
|
|
|
NM_001370259.2(MEN1):c.1659C>T (p.Phe553=)
|
rs1299138529
|
|
|
NM_001370259.2(MEN1):c.21G>A (p.Gln7=)
|
rs1422628649
|
|
|
NM_001370259.2(MEN1):c.61C>A (p.Arg21Ser)
|
rs541476418
|
|
|
NM_001370259.2(MEN1):c.645G>A (p.Val215=)
|
rs1347044526
|
|
|
NM_001370259.2(MEN1):c.655-5dup
|
rs772016629
|
|
|
NM_001370259.2(MEN1):c.655-6C>G
|
rs77461664
|
|
|
NM_001370259.2(MEN1):c.784-19TC[2]
|
rs764290037
|
|
|
NM_001370298.3(FGD4):c.376C>A (p.Pro126Thr)
|
rs199744649
|
|
|
NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr)
|
rs104895438
|
|
|
NM_001370466.1(NOD2):c.2586A>C (p.Gln862His)
|
rs764244331
|
|
|
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg)
|
rs2066845
|
|
|
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro)
|
rs397514333
|
|
|
NM_001371596.2(MFSD8):c.1470A>G (p.Gly490=)
|
rs1477527807
|
|
|
NM_001371596.2(MFSD8):c.63-4del
|
rs755011754
|
|
|
NM_001371623.1(TCOF1):c.1564G>A (p.Gly522Ser)
|
|
|
|
NM_001371623.1(TCOF1):c.4087AAG[4] (p.Lys1367del)
|
rs773205979
|
|
|
NM_001371904.1(APOA5):c.161+3G>A
|
|
|
|
NM_001371928.1(AHDC1):c.1003G>A (p.Asp335Asn)
|
rs1202158646
|
|
|
NM_001371928.1(AHDC1):c.1157G>A (p.Arg386His)
|
|
|
|
NM_001371928.1(AHDC1):c.175G>A (p.Glu59Lys)
|
|
|
|
NM_001371928.1(AHDC1):c.2495G>A (p.Arg832His)
|
|
|
|
NM_001371928.1(AHDC1):c.2866C>T (p.Arg956Cys)
|
|
|
|
NM_001371928.1(AHDC1):c.3001G>A (p.Ala1001Thr)
|
rs772318314
|
|
|
NM_001371928.1(AHDC1):c.3052G>A (p.Ala1018Thr)
|
|
|
|
NM_001371928.1(AHDC1):c.3234_3242del (p.Thr1079_Ala1081del)
|
rs754444655
|
|
|
NM_001371928.1(AHDC1):c.3254CCT[6] (p.Ser1091del)
|
rs530256606
|
|
|
NM_001371928.1(AHDC1):c.3551G>T (p.Arg1184Leu)
|
rs547656373
|
|
|
NM_001371928.1(AHDC1):c.3628G>A (p.Glu1210Lys)
|
|
|
|
NM_001371928.1(AHDC1):c.4280A>G (p.His1427Arg)
|
|
|
|
NM_001371986.1(UNC80):c.1079G>T (p.Arg360Leu)
|
rs532329476
|
|
|
NM_001371986.1(UNC80):c.398G>C (p.Gly133Ala)
|
rs138421862
|
|
|
NM_001372.4(DNAH9):c.6402G>A (p.Val2134=)
|
|
|
|
NM_001372.4(DNAH9):c.6430C>T (p.Arg2144Trp)
|
|
|
|
NM_001372.4(DNAH9):c.6847+5G>A
|
|
|
|
NM_001372.4(DNAH9):c.8515G>A (p.Ala2839Thr)
|
|
|
|
NM_001372044.2(SHANK3):c.2103G>A (p.Thr701=)
|
rs778640691
|
|
|
NM_001372044.2(SHANK3):c.3133G>T (p.Ala1045Ser)
|
rs530255181
|
|
|
NM_001372106.1(DNAH10):c.12281T>C (p.Ile4094Thr)
|
rs182918679
|
|
|
NM_001374353.1(GLI2):c.3418C>T (p.Leu1140=)
|
rs141988240
|
|
|
NM_001374385.1(ATP8B1):c.1538T>C (p.Ile513Thr)
|
|
|
|
NM_001374385.1(ATP8B1):c.1819+6T>C
|
|
|
|
NM_001374385.1(ATP8B1):c.182-5dup
|
rs34583775
|
|
|
NM_001374385.1(ATP8B1):c.2209+10T>C
|
rs1555689635
|
|
|
NM_001374385.1(ATP8B1):c.306C>T (p.Tyr102=)
|
rs1555693515
|
|
|
NM_001374385.1(ATP8B1):c.3108C>T (p.Ser1036=)
|
|
|
|
NM_001374385.1(ATP8B1):c.3636G>A (p.Ser1212=)
|
rs748084795
|
|
|
NM_001374385.1(ATP8B1):c.921C>T (p.His307=)
|
rs747429748
|
|
|
NM_001374736.1(DST):c.14441-7_14441-6del
|
rs773495985
|
|
|
NM_001374736.1(DST):c.20916C>T (p.Tyr6972=)
|
rs763815018
|
|
|
NM_001374736.1(DST):c.23195-6C>T
|
|
|
|
NM_001374736.1(DST):c.23348G>C (p.Arg7783Thr)
|
|
|
|
NM_001374828.1(ARID1B):c.1170CGG[11] (p.Gly402_Ser403insGlyGlyGly)
|
|
|
|
NM_001374828.1(ARID1B):c.1170CGG[3] (p.Gly398_Gly402del)
|
rs587779747
|
|
|
NM_001374828.1(ARID1B):c.1170CGG[4] (p.Gly399_Gly402del)
|
rs587779747
|
|
|
NM_001374828.1(ARID1B):c.1211GAG[4] (p.Gly408_Gly411del)
|
rs747790383
|
|
|
NM_001374828.1(ARID1B):c.1235CAGGAG[1] (p.412AG[1])
|
rs747438636
|
|
|
NM_001374828.1(ARID1B):c.1238GAGCAGGAG[1] (p.413GAG[1])
|
rs771557031
|
|
|
NM_001374828.1(ARID1B):c.1266GGC[1] (p.Ala431_Ala433del)
|
rs765410747
|
|
|
NM_001374828.1(ARID1B):c.1268C>T (p.Ala423Val)
|
rs878853084
|
|
|
NM_001374828.1(ARID1B):c.1281GGC[5] (p.Ala433dup)
|
rs764418312
|
|
|
NM_001374828.1(ARID1B):c.1281_1295del (p.Ala429_Ala433del)
|
rs1457993750
|
|
|
NM_001374828.1(ARID1B):c.1292CAG[4] (p.Ala433dup)
|
rs797045267
|
|
|
NM_001374828.1(ARID1B):c.1303GGC[5] (p.Gly440del)
|
rs797045268
|
|
|
NM_001374828.1(ARID1B):c.1303GGC[7] (p.Gly440dup)
|
rs797045268
|
|
|
NM_001374828.1(ARID1B):c.1328G>A (p.Gly443Asp)
|
rs1387431464
|
|
|
NM_001374828.1(ARID1B):c.1619CGG[5] (p.Ala543dup)
|
rs757953295
|
|
|
NM_001374828.1(ARID1B):c.1620GGCGGCGGCGGG[1] (p.541AAAG[1])
|
rs1239601972
|
|
|
NM_001374828.1(ARID1B):c.1631_1636dup (p.Ala545_Ala546insGlyAla)
|
|
|
|
NM_001374828.1(ARID1B):c.2440G>T (p.Val814Leu)
|
rs765365713
|
|
|
NM_001374828.1(ARID1B):c.3195G>A (p.Pro1065=)
|
rs537901478
|
|
|
NM_001374828.1(ARID1B):c.4613A>G (p.Asp1538Gly)
|
|
|
|
NM_001374828.1(ARID1B):c.506ACCACCACCATGCCCACCACC[1] (p.169HHHHAHH[1])
|
rs767952510
|
|
|
NM_001374828.1(ARID1B):c.5126C>T (p.Thr1709Met)
|
|
|
|
NM_001374828.1(ARID1B):c.5310T>C (p.Leu1770=)
|
rs372621575
|
|
|
NM_001374828.1(ARID1B):c.5875A>G (p.Ser1959Gly)
|
|
|
|
NM_001374828.1(ARID1B):c.594GCAGCAGCAGCAGCAGCAACAGCA[1] (p.Gln207_Gln214del)
|
rs770869529
|
|
|
NM_001374828.1(ARID1B):c.612_617dup (p.Gln214_His215insGlnGln)
|
|
|
|
NM_001374828.1(ARID1B):c.615GCA[4] (p.Gln212_Gln214del)
|
rs587779744
|
|
|
NM_001374828.1(ARID1B):c.633GCAACA[3] (p.Gln213_Gln214dup)
|
rs748838689
|
|
|
NM_001374828.1(ARID1B):c.641_642insGCAGCACCAGCAGCAGCAACAGCA (p.Gln214_His215insGlnHisGlnGlnGlnGlnGlnGln)
|
rs1334776212
|
|
|
NM_001374828.1(ARID1B):c.6793G>A (p.Asp2265Asn)
|
rs2128398514
|
|
|
NM_001374828.1(ARID1B):c.679_690del (p.Gly227_Ala230del)
|
|
|
|
NM_001374828.1(ARID1B):c.6904C>G (p.Leu2302Val)
|
|
|
|
NM_001374828.1(ARID1B):c.886CCG[3] (p.Pro297_Val298insPro)
|
|
|
|
NM_001374828.1(ARID1B):c.928_929delinsCC (p.Val310Pro)
|
rs1554247605
|
|
|
NM_001375524.1(TRRAP):c.10754-3C>T
|
|
|
|
NM_001375524.1(TRRAP):c.1133C>T (p.Thr378Met)
|
|
|
|
NM_001375524.1(TRRAP):c.2773A>G (p.Thr925Ala)
|
|
|
|
NM_001375524.1(TRRAP):c.3196T>C (p.Tyr1066His)
|
rs2116509058
|
|
|
NM_001375524.1(TRRAP):c.4900G>A (p.Gly1634Ser)
|
|
|
|
NM_001375524.1(TRRAP):c.531A>G (p.Gln177=)
|
|
|
|
NM_001375524.1(TRRAP):c.5334+3G>A
|
|
|
|
NM_001375524.1(TRRAP):c.7630G>A (p.Ala2544Thr)
|
|
|
|
NM_001375524.1(TRRAP):c.8300T>C (p.Met2767Thr)
|
|
|
|
NM_001375524.1(TRRAP):c.8458A>G (p.Ile2820Val)
|
|
|
|
NM_001375567.1(FOCAD):c.1128T>C (p.Ser376=)
|
|
|
|
NM_001375567.1(FOCAD):c.3360G>A (p.Ser1120=)
|
|
|
|
NM_001375567.1(FOCAD):c.3528C>T (p.Ser1176=)
|
|
|
|
NM_001375567.1(FOCAD):c.3877-10A>C
|
|
|
|
NM_001375567.1(FOCAD):c.4590C>T (p.Leu1530=)
|
|
|
|
NM_001375567.1(FOCAD):c.5257-3T>G
|
|
|
|
NM_001375808.2(LPIN2):c.1169-7del
|
rs746626720
|
|
|
NM_001375808.2(LPIN2):c.1716A>G (p.Pro572=)
|
rs2077138820
|
|
|
NM_001375808.2(LPIN2):c.1939-2del
|
rs745529823
|
|
|
NM_001375808.2(LPIN2):c.2211C>T (p.Ala737=)
|
rs886053765
|
|
|
NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe)
|
rs201160155
|
|
|
NM_001376.5(DYNC1H1):c.10693A>G (p.Ser3565Gly)
|
rs2048546542
|
|
|
NM_001376.5(DYNC1H1):c.10754+11G>A
|
rs886050372
|
|
|
NM_001376.5(DYNC1H1):c.1158A>G (p.Arg386=)
|
rs567247522
|
|
|
NM_001376.5(DYNC1H1):c.11898G>A (p.Pro3966=)
|
rs777166781
|
|
|
NM_001376.5(DYNC1H1):c.11942-20_11947dup
|
rs745960214
|
|
|
NM_001376.5(DYNC1H1):c.12191C>T (p.Thr4064Met)
|
rs750249796
|
|
|
NM_001376.5(DYNC1H1):c.13350G>A (p.Thr4450=)
|
rs961375016
|
|
|
NM_001376.5(DYNC1H1):c.13548G>C (p.Val4516=)
|
rs1555412737
|
|
|
NM_001376.5(DYNC1H1):c.13707G>C (p.Thr4569=)
|
rs138571942
|
|
|
NM_001376.5(DYNC1H1):c.2462C>T (p.Ala821Val)
|
rs1391196036
|
|
|
NM_001376.5(DYNC1H1):c.2971A>G (p.Met991Val)
|
rs1057518524
|
|
|
NM_001376.5(DYNC1H1):c.5049+15G>A
|
rs975753572
|
|
|
NM_001376.5(DYNC1H1):c.5217C>T (p.Ile1739=)
|
rs886050368
|
|
|
NM_001376.5(DYNC1H1):c.5422C>A (p.Leu1808Ile)
|
rs879253937
|
|
|
NM_001376.5(DYNC1H1):c.6210C>G (p.Val2070=)
|
rs898083162
|
|
|
NM_001376.5(DYNC1H1):c.6871G>A (p.Val2291Met)
|
|
|
|
NM_001376.5(DYNC1H1):c.7014+11T>A
|
rs748466861
|
|
|
NM_001376.5(DYNC1H1):c.8177+12C>T
|
rs367551573
|
|
|
NM_001376.5(DYNC1H1):c.8178-12A>T
|
rs538986139
|
|
|
NM_001376.5(DYNC1H1):c.9069A>G (p.Gly3023=)
|
rs532073330
|
|
|
NM_001376.5(DYNC1H1):c.9138G>A (p.Ser3046=)
|
rs34338935
|
|
|
NM_001376256.1(CRYM):c.168G>C (p.Arg56Ser)
|
rs143848148
|
|
|
NM_001376256.1(CRYM):c.523_524delinsTT (p.Glu175Leu)
|
rs386789728
|
|
|
NM_001376571.1(MADD):c.3481G>A (p.Ala1161Thr)
|
|
|
|
NM_001376571.1(MADD):c.4887G>T (p.Ser1629=)
|
|
|
|
NM_001377.3(DYNC2H1):c.10152T>G (p.Ala3384=)
|
rs886047574
|
|
|
NM_001377.3(DYNC2H1):c.9846T>C (p.Asp3282=)
|
rs886047572
|
|
|
NM_001377229.1(DISP1):c.3454A>G (p.Ser1152Gly)
|
|
|
|
NM_001377229.1(DISP1):c.4557_4559del (p.Leu1520del)
|
rs753844157
|
|
|
NM_001377265.1(MAPT):c.1156G>A (p.Val386Met)
|
rs747178896
|
|
|
NM_001377265.1(MAPT):c.1732+2365C>A
|
|
|
|
NM_001377295.2(GNAT2):c.257G>A (p.Arg86Gln)
|
rs140250745
|
|
|
NM_001378030.1(CCDC78):c.1134-19C>T
|
rs1320283995
|
|
|
NM_001378120.1(MBD5):c.1379C>T (p.Ser460Leu)
|
rs878910680
|
|
|
NM_001378120.1(MBD5):c.1472G>C (p.Arg491Thr)
|
rs1024254683
|
|
|
NM_001378120.1(MBD5):c.1837A>G (p.Asn613Asp)
|
rs398124341
|
|
|
NM_001378120.1(MBD5):c.2109G>C (p.Gln703His)
|
rs767521281
|
|
|
NM_001378120.1(MBD5):c.3603G>T (p.Ser1201=)
|
rs138058889
|
|
|
NM_001378120.1(MBD5):c.4238A>T (p.Asp1413Val)
|
rs752035001
|
|
|
NM_001378120.1(MBD5):c.4548T>C (p.Thr1516=)
|
rs1681478115
|
|
|
NM_001378120.1(MBD5):c.644G>A (p.Arg215His)
|
rs771325235
|
|
|
NM_001378183.1(PIEZO2):c.1261G>C (p.Gly421Arg)
|
rs202104395
|
|
|
NM_001378183.1(PIEZO2):c.1883-8A>T
|
|
|
|
NM_001378183.1(PIEZO2):c.2032C>T (p.Leu678=)
|
|
|
|
NM_001378183.1(PIEZO2):c.4537C>G (p.Gln1513Glu)
|
|
|
|
NM_001378183.1(PIEZO2):c.6776T>C (p.Met2259Thr)
|
|
|
|
NM_001378328.1(CELSR1):c.366_386dup (p.Gly129_Ala130insThrGlyAlaArgLeuCysGly)
|
|
|
|
NM_001378418.1(TCF20):c.3848G>A (p.Arg1283His)
|
|
|
|
NM_001378418.1(TCF20):c.401G>A (p.Gly134Asp)
|
|
|
|
NM_001378418.1(TCF20):c.719CCT[8] (p.Ser246dup)
|
rs754279263
|
|
|
NM_001378452.1(ITPR1):c.1614G>A (p.Leu538=)
|
rs1297659569
|
|
|
NM_001378452.1(ITPR1):c.3318C>G (p.Ala1106=)
|
rs2094337722
|
|
|
NM_001378452.1(ITPR1):c.3873C>T (p.Phe1291=)
|
rs567943387
|
|
|
NM_001378452.1(ITPR1):c.5354-10A>G
|
|
|
|
NM_001378452.1(ITPR1):c.7562-10G>A
|
|
|
|
NM_001378454.1(ALMS1):c.10079-11C>A
|
rs368250605
|
|
|
NM_001378454.1(ALMS1):c.10079-19A>G
|
rs935864365
|
|
|
NM_001378454.1(ALMS1):c.10079-4C>G
|
rs1446726516
|
|
|
NM_001378454.1(ALMS1):c.10214-12dup
|
rs543855806
|
|
|
NM_001378454.1(ALMS1):c.10221TGC[6] (p.Ala3412dup)
|
rs760731440
|
|
|
NM_001378454.1(ALMS1):c.10368A>G (p.Leu3456=)
|
rs929142880
|
|
|
NM_001378454.1(ALMS1):c.10385-7T>G
|
rs1298945759
|
|
|
NM_001378454.1(ALMS1):c.10421G>A (p.Arg3474His)
|
|
|
|
NM_001378454.1(ALMS1):c.10731T>C (p.Ile3577=)
|
rs1553418487
|
|
|
NM_001378454.1(ALMS1):c.11323C>T (p.Leu3775=)
|
rs771595125
|
|
|
NM_001378454.1(ALMS1):c.11511A>G (p.Leu3837=)
|
rs374164508
|
|
|
NM_001378454.1(ALMS1):c.11669-11del
|
rs1261279730
|
|
|
NM_001378454.1(ALMS1):c.1174C>A (p.Arg392Ser)
|
rs3813227
|
|
|
NM_001378454.1(ALMS1):c.11873-11G>T
|
rs571456553
|
|
|
NM_001378454.1(ALMS1):c.11873-4G>A
|
rs1553421697
|
|
|
NM_001378454.1(ALMS1):c.12150C>A (p.Ser4050=)
|
rs1553421877
|
|
|
NM_001378454.1(ALMS1):c.12299-14C>T
|
rs1352077204
|
|
|
NM_001378454.1(ALMS1):c.12299-15T>C
|
rs1553422033
|
|
|
NM_001378454.1(ALMS1):c.12299-15_12299-12del
|
rs775452962
|
|
|
NM_001378454.1(ALMS1):c.12363-5C>G
|
rs774448248
|
|
|
NM_001378454.1(ALMS1):c.12363-6T>G
|
rs1553422641
|
|
|
NM_001378454.1(ALMS1):c.1237+10C>G
|
rs1291450244
|
|
|
NM_001378454.1(ALMS1):c.12463-10T>C
|
rs754172101
|
|
|
NM_001378454.1(ALMS1):c.12463-9C>G
|
rs1553422761
|
|
|
NM_001378454.1(ALMS1):c.1339-5A>G
|
rs373469023
|
|
|
NM_001378454.1(ALMS1):c.1339-8C>T
|
rs1553401596
|
|
|
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly)
|
rs115444326
|
|
|
NM_001378454.1(ALMS1):c.207C>T (p.Asp69=)
|
rs752874408
|
|
|
NM_001378454.1(ALMS1):c.2535C>G (p.Asp845Glu)
|
rs77517267
|
|
|
NM_001378454.1(ALMS1):c.30C>T (p.Gly10=)
|
rs1402244580
|
|
|
NM_001378454.1(ALMS1):c.325-8A>C
|
rs200740825
|
|
|
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup)
|
rs55889738
|
|
|
NM_001378454.1(ALMS1):c.36GGA[21] (p.Glu21_Glu28dup)
|
rs55889738
|
|
|
NM_001378454.1(ALMS1):c.36GGA[8] (p.Glu24_Glu28del)
|
rs55889738
|
|
|
NM_001378454.1(ALMS1):c.4542C>T (p.Gly1514=)
|
rs763511170
|
|
|
NM_001378454.1(ALMS1):c.5183A>G (p.Asp1728Gly)
|
rs879255405
|
|
|
NM_001378454.1(ALMS1):c.5310G>A (p.Gln1770=)
|
rs778267451
|
|
|
NM_001378454.1(ALMS1):c.5374_5375delinsAT (p.Ala1792Ile)
|
rs1131691296
|
|
|
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu)
|
rs200925575
|
|
|
NM_001378454.1(ALMS1):c.57G>A (p.Glu19=)
|
rs866503570
|
|
|
NM_001378454.1(ALMS1):c.6302C>G (p.Ser2101Trp)
|
rs28730854
|
|
|
NM_001378454.1(ALMS1):c.6433C>A (p.Arg2145=)
|
rs770558150
|
|
|
NM_001378454.1(ALMS1):c.647-4A>G
|
rs1553400427
|
|
|
NM_001378454.1(ALMS1):c.6960G>A (p.Gln2320=)
|
rs794727925
|
|
|
NM_001378454.1(ALMS1):c.6975A>G (p.Glu2325=)
|
rs1455390186
|
|
|
NM_001378454.1(ALMS1):c.7541-4C>G
|
rs1380143996
|
|
|
NM_001378454.1(ALMS1):c.765-6T>A
|
rs755762723
|
|
|
NM_001378454.1(ALMS1):c.780G>A (p.Lys260=)
|
rs1553400683
|
|
|
NM_001378454.1(ALMS1):c.8281C>G (p.Pro2761Ala)
|
rs369650940
|
|
|
NM_001378454.1(ALMS1):c.8439A>G (p.Glu2813=)
|
rs886038617
|
|
|
NM_001378454.1(ALMS1):c.8837A>G (p.His2946Arg)
|
rs574785830
|
|
|
NM_001378454.1(ALMS1):c.9753A>G (p.Gln3251=)
|
rs1553412793
|
|
|
NM_001378454.1(ALMS1):c.9782-6C>T
|
rs1414733616
|
|
|
NM_001378454.1(ALMS1):c.9782-8C>T
|
rs1553414061
|
|
|
NM_001378454.1(ALMS1):c.9908-13C>G
|
rs373325114
|
|
|
NM_001378454.1(ALMS1):c.9908-15C>G
|
rs1389556610
|
|
|
NM_001378457.1(DMXL2):c.1787C>G (p.Ser596Cys)
|
rs143850714
|
|
|
NM_001378457.1(DMXL2):c.4427A>G (p.Asp1476Gly)
|
|
|
|
NM_001378457.1(DMXL2):c.7214-10C>A
|
|
|
|
NM_001378457.1(DMXL2):c.7393-15T>C
|
|
|
|
NM_001378457.1(DMXL2):c.788G>A (p.Gly263Asp)
|
|
|
|
NM_001378457.1(DMXL2):c.8526+8T>C
|
rs768003104
|
|
|
NM_001378609.3(OTOGL):c.1712-3C>A
|
|
|
|
NM_001378609.3(OTOGL):c.2270T>C (p.Phe757Ser)
|
|
|
|
NM_001378609.3(OTOGL):c.335-9del
|
rs754987281
|
|
|
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu)
|
rs16892134
|
|
|
NM_001378615.1(CC2D2A):c.2182-9_2182-8delinsAA
|
rs1560177950
|
|
|
NM_001378615.1(CC2D2A):c.3145C>A (p.Arg1049=)
|
rs386833750
|
|
|
NM_001378615.1(CC2D2A):c.4728C>T (p.Asp1576=)
|
rs774919996
|
|
|
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=)
|
rs116198081
|
|
|
NM_001378969.1(KCND3):c.1920G>A (p.Thr640=)
|
|
|
|
NM_001379110.1(SLC9A6):c.*5_*8delinsTT
|
rs797044655
|
|
|
NM_001379110.1(SLC9A6):c.-57+21del
|
rs782431608
|
|
|
NM_001379110.1(SLC9A6):c.1080+17A>G
|
rs2070960570
|
|
|
NM_001379110.1(SLC9A6):c.487G>A (p.Ala163Thr)
|
rs796053281
|
|
|
NM_001379110.1(SLC9A6):c.81G>A (p.Leu27=)
|
rs2089324822
|
|
|
NM_001379200.1(TBX1):c.1076G>A (p.Gly359Asp)
|
rs781731042
|
|
|
NM_001379200.1(TBX1):c.1368_1379dup (p.Ala459_His462dup)
|
rs774578030
|
|
|
NM_001379200.1(TBX1):c.1410_1448del (p.Ala473_Ala485del)
|
rs764911027
|
|
|
NM_001379200.1(TBX1):c.232G>A (p.Ala78Thr)
|
rs1028072654
|
|
|
NM_001379200.1(TBX1):c.330GAA[2] (p.Lys112del)
|
rs369050575
|
|
|
NM_001379210.1(SLC25A26):c.568+6A>C
|
|
|
|
NM_001379286.1(ZNF423):c.2532G>A (p.Ala844=)
|
|
|
|
NM_001379291.1(BRD4):c.2458A>G (p.Ile820Val)
|
|
|
|
NM_001379291.1(BRD4):c.643CCT[2] (p.Pro217del)
|
|
|
|
NM_001379451.1(BCORL1):c.4381A>G (p.Thr1461Ala)
|
|
|
|
NM_001379500.1(COL18A1):c.107-12112_107-12111delinsTT
|
rs1555853999
|
|
|
NM_001379500.1(COL18A1):c.107-12195G>A
|
rs62000960
|
|
|
NM_001379500.1(COL18A1):c.156G>A (p.Pro52=)
|
|
|
|
NM_001379500.1(COL18A1):c.1675-3C>T
|
|
|
|
NM_001379500.1(COL18A1):c.1791TGGGCCCCC[1] (p.594PGP[3])
|
rs764710670
|
|
|
NM_001379500.1(COL18A1):c.2869-8G>T
|
rs770714794
|
|
|
NM_001379500.1(COL18A1):c.2958_2966del (p.985GPP[3])
|
|
|
|
NM_001379500.1(COL18A1):c.2964CCCCCCAGG[1] (p.985GPP[3])
|
rs759403198
|
|
|
NM_001379500.1(COL18A1):c.3417C>T (p.His1139=)
|
|
|
|
NM_001379500.1(COL18A1):c.654G>T (p.Gly218=)
|
|
|
|
NM_001382273.1(TNK2):c.1957G>A (p.Val653Met)
|
rs201407161
|
|
|
NM_001382430.1(AKT1):c.288-4G>T
|
rs778501455
|
|
|
NM_001382567.1(STIM1):c.1634+272C>G
|
|
|
|
NM_001384140.1(PCDH15):c.1195A>C (p.Ser399Arg)
|
rs199786639
|
|
|
NM_001384140.1(PCDH15):c.1195A>G (p.Ser399Gly)
|
rs199786639
|
|
|
NM_001384140.1(PCDH15):c.189A>G (p.Lys63=)
|
rs1554940478
|
|
|
NM_001384140.1(PCDH15):c.2277T>C (p.Phe759=)
|
rs1565043296
|
|
|
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu)
|
rs45483395
|
|
|
NM_001384140.1(PCDH15):c.3341T>G (p.Val1114Gly)
|
rs563855694
|
|
|
NM_001384140.1(PCDH15):c.3502-10del
|
rs750835578
|
|
|
NM_001384140.1(PCDH15):c.3699C>T (p.Ser1233=)
|
rs774857947
|
|
|
NM_001384140.1(PCDH15):c.372A>G (p.Lys124=)
|
|
|
|
NM_001384140.1(PCDH15):c.4308GCC[3] (p.Pro1442_Pro1443del)
|
|
|
|
NM_001384140.1(PCDH15):c.4308GCC[6] (p.Pro1443dup)
|
rs559130985
|
|
|
NM_001384140.1(PCDH15):c.4320_4328dup (p.Pro1441_Pro1443dup)
|
rs776051221
|
|
|
NM_001384140.1(PCDH15):c.4323_4328dup (p.Pro1443_Gly1444insProPro)
|
|
|
|
NM_001384140.1(PCDH15):c.4651GAA[1] (p.Glu1552del)
|
rs561144747
|
|
|
NM_001384140.1(PCDH15):c.465A>G (p.Thr155=)
|
rs559193058
|
|
|
NM_001384140.1(PCDH15):c.706-17_706-14del
|
rs886047068
|
|
|
NM_001384474.1(LOXHD1):c.1810-6C>A
|
rs199804946
|
|
|
NM_001384474.1(LOXHD1):c.1951G>C (p.Val651Leu)
|
rs769377709
|
|
|
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup)
|
rs759237437
|
|
|
NM_001384474.1(LOXHD1):c.2916AGAGGAGGA[1] (p.Glu976_Glu978del)
|
rs765944082
|
|
|
NM_001384474.1(LOXHD1):c.3898A>G (p.Arg1300Gly)
|
|
|
|
NM_001384474.1(LOXHD1):c.4096-7del
|
rs1314985669
|
|
|
NM_001384474.1(LOXHD1):c.5113_5125dup (p.Val1709fs)
|
rs876657855
|
|
|
NM_001384474.1(LOXHD1):c.5712C>T (p.Asn1904=)
|
rs746023380
|
|
|
NM_001384474.1(LOXHD1):c.710A>G (p.Asn237Ser)
|
rs539278802
|
|
|
NM_001384732.1(CPLANE1):c.2078A>G (p.Lys693Arg)
|
|
|
|
NM_001384732.1(CPLANE1):c.7367C>T (p.Pro2456Leu)
|
rs146595129
|
|
|
NM_001384900.1(SEMA3D):c.2027T>C (p.Ile676Thr)
|
|
|
|
NM_001385.3(DPYS):c.1506del (p.Arg503fs)
|
rs79080341
|
|
|
NM_001385012.1(NBEA):c.99_122del (p.Gly34_Gly41del)
|
|
|
|
NM_001385641.1(SAMD11):c.1336G>A (p.Ala446Thr)
|
rs571654307
|
|
|
NM_001386125.1(OBSCN):c.23838del (p.Ser7947fs)
|
|
|
|
NM_001386140.1(MTTP):c.1770-3C>T
|
|
|
|
NM_001386140.1(MTTP):c.854C>T (p.Thr285Met)
|
rs566965111
|
|
|
NM_001386298.1(CIC):c.4279C>T (p.Pro1427Ser)
|
|
|
|
NM_001386393.1(PANK2):c.-28C>T
|
rs544239478
|
|
|
NM_001386393.1(PANK2):c.1083-3_1083-2del
|
rs760705943
|
|
|
NM_001386393.1(PANK2):c.255G>A (p.Ser85=)
|
rs375741383
|
|
|
NM_001386393.1(PANK2):c.717T>C (p.Ile239=)
|
rs1742717583
|
|
|
NM_001386795.1(DTNA):c.1766G>A (p.Arg589His)
|
rs200246467
|
|
|
NM_001387283.1(SMARCA4):c.4255C>T (p.Arg1419Cys)
|
rs1056234449
|
|
|
NM_001387283.1(SMARCA4):c.4261T>C (p.Ser1421Pro)
|
rs776681345
|
|
|
NM_001388492.1(HTT):c.2981C>G (p.Thr994Arg)
|
rs190593027
|
|
|
NM_001394062.1(MACF1):c.15828A>C (p.Lys5276Asn)
|
|
|
|
NM_001394062.1(MACF1):c.17494A>G (p.Met5832Val)
|
|
|
|
NM_001394062.1(MACF1):c.17633G>A (p.Arg5878His)
|
|
|
|
NM_001394062.1(MACF1):c.18710T>C (p.Leu6237Pro)
|
|
|
|
NM_001394062.1(MACF1):c.2153C>A (p.Ser718Tyr)
|
|
|
|
NM_001395413.1(POR):c.1092T>A (p.Pro364=)
|
rs782729580
|
|
|
NM_001395413.1(POR):c.1405G>A (p.Val469Met)
|
rs72557946
|
|
|
NM_001395413.1(POR):c.1405G>C (p.Val469Leu)
|
rs72557946
|
|
|
NM_001395413.1(POR):c.562G>A (p.Val188Met)
|
rs201513102
|
|
|
NM_001395413.1(POR):c.615G>A (p.Leu205=)
|
rs782714107
|
|
|
NM_001395656.1(ROBO2):c.3869G>T (p.Arg1290Leu)
|
rs200131009
|
|
|
NM_001395891.1(CLASP1):c.196-587G>A
|
|
|
|
NM_001395891.1(CLASP1):c.196-606C>T
|
rs557186710
|
|
|
NM_001395891.1(CLASP1):c.196-624C>T
|
rs769219094
|
|
|
NM_001395891.1(CLASP1):c.196-651dup
|
rs752094504
|
|
|
NM_001408.3(CELSR2):c.5974G>A (p.Gly1992Arg)
|
|
|
|
NM_001408.3(CELSR2):c.6859G>A (p.Val2287Ile)
|
rs141489111
|
|
|
NM_001429.4(EP300):c.2876G>T (p.Ser959Ile)
|
rs1308182502
|
|
|
NM_001429.4(EP300):c.4172+5del
|
|
|
|
NM_001429.4(EP300):c.6294A>G (p.Gln2098=)
|
|
|
|
NM_001429.4(EP300):c.6449_6460del (p.2146PQQQ[1])
|
rs758586599
|
|
|
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys)
|
rs587778256
|
|
|
NM_001447.3(FAT2):c.10148C>T (p.Ala3383Val)
|
|
|
|
NM_001447.3(FAT2):c.10413C>A (p.Asn3471Lys)
|
|
|
|
NM_001447.3(FAT2):c.12112G>A (p.Glu4038Lys)
|
|
|
|
NM_001447.3(FAT2):c.1277G>A (p.Arg426Lys)
|
|
|
|
NM_001447.3(FAT2):c.2059A>G (p.Ile687Val)
|
|
|
|
NM_001447.3(FAT2):c.2165T>C (p.Ile722Thr)
|
|
|
|
NM_001447.3(FAT2):c.2263G>T (p.Ala755Ser)
|
|
|
|
NM_001447.3(FAT2):c.3337G>A (p.Gly1113Ser)
|
|
|
|
NM_001447.3(FAT2):c.4406G>A (p.Arg1469Gln)
|
|
|
|
NM_001447.3(FAT2):c.4523C>T (p.Thr1508Met)
|
|
|
|
NM_001447.3(FAT2):c.503G>A (p.Cys168Tyr)
|
|
|
|
NM_001447.3(FAT2):c.5512T>C (p.Phe1838Leu)
|
|
|
|
NM_001447.3(FAT2):c.5629T>C (p.Tyr1877His)
|
|
|
|
NM_001447.3(FAT2):c.8000G>C (p.Gly2667Ala)
|
|
|
|
NM_001447.3(FAT2):c.8183G>A (p.Arg2728Gln)
|
|
|
|
NM_001447.3(FAT2):c.847G>A (p.Gly283Arg)
|
|
|
|
NM_001447.3(FAT2):c.8558A>G (p.Glu2853Gly)
|
|
|
|
NM_001447.3(FAT2):c.9701G>A (p.Gly3234Asp)
|
|
|
|
NM_001453.3(FOXC1):c.1124GCG[5] (p.Gly380del)
|
rs76840944
|
|
|
NM_001453.3(FOXC1):c.1464GGC[4] (p.Ala494_Ala495del)
|
rs747574884
|
|
|
NM_001457.4(FLNB):c.107G>A (p.Arg36His)
|
rs142568031
|
|
|
NM_001457.4(FLNB):c.1327G>A (p.Val443Ile)
|
rs200902568
|
|
|
NM_001457.4(FLNB):c.1327G>C (p.Val443Leu)
|
rs200902568
|
|
|
NM_001457.4(FLNB):c.1358A>G (p.Asn453Ser)
|
|
|
|
NM_001457.4(FLNB):c.1367G>A (p.Arg456Gln)
|
rs377737248
|
|
|
NM_001457.4(FLNB):c.1409G>A (p.Arg470Gln)
|
rs750354519
|
|
|
NM_001457.4(FLNB):c.1711G>A (p.Val571Met)
|
rs760127618
|
|
|
NM_001457.4(FLNB):c.2130G>C (p.Pro710=)
|
rs371850879
|
|
|
NM_001457.4(FLNB):c.2484+8G>T
|
rs759532391
|
|
|
NM_001457.4(FLNB):c.2773G>T (p.Gly925Cys)
|
rs139875974
|
|
|
NM_001457.4(FLNB):c.317A>G (p.Asn106Ser)
|
|
|
|
NM_001457.4(FLNB):c.3409G>A (p.Val1137Met)
|
rs150475174
|
|
|
NM_001457.4(FLNB):c.3770C>T (p.Pro1257Leu)
|
|
|
|
NM_001457.4(FLNB):c.4172_4173inv (p.Ala1391Val)
|
|
|
|
NM_001457.4(FLNB):c.4362G>C (p.Pro1454=)
|
rs150844992
|
|
|
NM_001457.4(FLNB):c.5274A>G (p.Gly1758=)
|
|
|
|
NM_001457.4(FLNB):c.6367+7G>C
|
rs201871482
|
|
|
NM_001457.4(FLNB):c.7065C>T (p.His2355=)
|
rs886058766
|
|
|
NM_001457.4(FLNB):c.7662C>A (p.Thr2554=)
|
rs200328630
|
|
|
NM_001457.4(FLNB):c.7760G>T (p.Trp2587Leu)
|
rs144321868
|
|
|
NM_001457.4(FLNB):c.798C>T (p.Pro266=)
|
rs1341441238
|
|
|
NM_001457.4(FLNB):c.825C>T (p.Ala275=)
|
rs749545528
|
|
|
NM_001458.5(FLNC):c.1000C>T (p.Arg334Cys)
|
rs372497581
|
|
|
NM_001458.5(FLNC):c.2062G>A (p.Ala688Thr)
|
rs774194364
|
|
|
NM_001458.5(FLNC):c.2167G>A (p.Asp723Asn)
|
rs375414341
|
|
|
NM_001458.5(FLNC):c.3055G>A (p.Gly1019Ser)
|
rs200864007
|
|
|
NM_001458.5(FLNC):c.3055G>T (p.Gly1019Cys)
|
rs200864007
|
|
|
NM_001458.5(FLNC):c.3114G>A (p.Val1038=)
|
rs376516180
|
|
|
NM_001458.5(FLNC):c.3261C>T (p.Thr1087=)
|
rs2128936369
|
|
|
NM_001458.5(FLNC):c.3489G>C (p.Pro1163=)
|
rs369853278
|
|
|
NM_001458.5(FLNC):c.3711A>C (p.Lys1237Asn)
|
rs758220780
|
|
|
NM_001458.5(FLNC):c.3799C>T (p.Arg1267Trp)
|
rs371483562
|
|
|
NM_001458.5(FLNC):c.4301G>A (p.Arg1434His)
|
rs143623535
|
|
|
NM_001458.5(FLNC):c.4301G>T (p.Arg1434Leu)
|
rs143623535
|
|
|
NM_001458.5(FLNC):c.5363T>G (p.Val1788Gly)
|
rs573899913
|
|
|
NM_001458.5(FLNC):c.6799G>A (p.Val2267Ile)
|
rs758080422
|
|
|
NM_001458.5(FLNC):c.7609G>A (p.Ala2537Thr)
|
rs201486752
|
|
|
NM_001482.3(GATM):c.222C>T (p.Pro74=)
|
rs774485349
|
|
|
NM_001482.3(GATM):c.297A>G (p.Thr99=)
|
rs1445305823
|
|
|
NM_001486.4(GCKR):c.1066+4G>C
|
|
|
|
NM_001486.4(GCKR):c.1147C>A (p.Pro383Thr)
|
|
|
|
NM_001486.4(GCKR):c.1337_1338delinsCC (p.Leu446Pro)
|
rs2148586064
|
|
|
NM_001486.4(GCKR):c.1555G>A (p.Ala519Thr)
|
|
|
|
NM_001486.4(GCKR):c.548_549del (p.Ser183fs)
|
|
|
|
NM_001497.4(B4GALT1):c.1064+5A>T
|
rs182359666
|
|
|
NM_001498.4(GCLC):c.-29AGG[4]
|
rs3830798
|
|
|
NM_001510.4(GRID2):c.2032C>G (p.Pro678Ala)
|
|
|
|
NM_001510.4(GRID2):c.2921T>A (p.Phe974Tyr)
|
|
|
|
NM_001530.4(HIF1A):c.1762G>A (p.Ala588Thr)
|
|
|
|
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr)
|
rs367857772
|
|
|
NM_001543.5(NDST1):c.1749+8dup
|
rs528143978
|
|
|
NM_001556.3(IKBKB):c.987G>A (p.Glu329=)
|
rs1402092076
|
|
|
NM_001558.4(IL10RA):c.67+11G>A
|
rs376956484
|
|
|
NM_001558.4(IL10RA):c.67+13G>A
|
rs886047707
|
|
|
NM_001561.6(TNFRSF9):c.208+5_208+16del
|
rs375937837
|
|
|
NM_001563.4(IMPG1):c.1930T>G (p.Ser644Ala)
|
rs1781946410
|
|
|
NM_001567.4(INPPL1):c.1893_1894delinsAA (p.Leu632Ile)
|
rs1565392009
|
|
|
NM_001605.3(AARS1):c.1842C>T (p.Ala614=)
|
rs1057521642
|
|
|
NM_001606.5(ABCA2):c.1193C>A (p.Thr398Lys)
|
rs143473036
|
|
|
NM_001609.4(ACADSB):c.1062T>C (p.Ala354=)
|
rs886046780
|
|
|
NM_001613.4(ACTA2):c.399C>G (p.Ala133=)
|
rs781132665
|
|
|
NM_001613.4(ACTA2):c.456C>T (p.Gly152=)
|
rs1845848773
|
|
|
NM_001613.4(ACTA2):c.645G>A (p.Lys215=)
|
rs1053760032
|
|
|
NM_001614.5(ACTG1):c.124-6C>T
|
|
|
|
NM_001614.5(ACTG1):c.985-5dup
|
rs782289893
|
|
|
NM_001643.2(APOA2):c.53-43TG[17]
|
rs17244502
|
|
|
NM_001643.2(APOA2):c.53-43TG[21]
|
rs17244502
|
|
|
NM_001687.5(ATP5F1D):c.479A>G (p.Asn160Ser)
|
|
|
|
NM_001690.4(ATP6V1A):c.565-3T>C
|
|
|
|
NM_001692.4(ATP6V1B1):c.1249-15_1249-11del
|
rs886056273
|
|
|
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val)
|
rs145735762
|
|
|
NM_001698.3(AUH):c.951A>T (p.Pro317=)
|
rs530710210
|
|
|
NM_001701.4(BAAT):c.9G>A (p.Gln3=)
|
rs149369902
|
|
|
NM_001709.5(BDNF):c.5C>T (p.Thr2Ile)
|
rs8192466
|
|
|
NM_001710.6(CFB):c.64+6C>T
|
|
|
|
NM_001711.6(BGN):c.383A>T (p.Lys128Met)
|
|
|
|
NM_001711.6(BGN):c.771-7C>A
|
rs782014544
|
|
|
NM_001715.3(BLK):c.473-7C>G
|
rs200091252
|
|
|
NM_001715.3(BLK):c.574C>G (p.Arg192Gly)
|
|
|
|
NM_001715.3(BLK):c.669G>A (p.Pro223=)
|
|
|
|
NM_001734.5(C1S):c.1198G>C (p.Glu400Gln)
|
rs150549869
|
|
|
NM_001735.3(C5):c.4083A>G (p.Val1361=)
|
|
|
|
NM_001735.3(C5):c.4398G>A (p.Ser1466=)
|
|
|
|
NM_001754.5(RUNX1):c.351+5T>C
|
rs1555899712
|
|
|
NM_001754.5(RUNX1):c.744C>T (p.Asn248=)
|
rs1555889947
|
|
|
NM_001759.4(CCND2):c.812C>T (p.Ser271Leu)
|
rs776036883
|
|
|
NM_001792.5(CDH2):c.2103C>T (p.Cys701=)
|
rs751271722
|
|
|
NM_001792.5(CDH2):c.2603G>A (p.Gly868Glu)
|
|
|
|
NM_001793.6(CDH3):c.2430C>T (p.Asn810=)
|
rs774229703
|
|
|
NM_001830.4(CLCN4):c.144+6T>A
|
rs1057523693
|
|
|
NM_001844.5(COL2A1):c.1004C>G (p.Thr335Ser)
|
rs755043901
|
|
|
NM_001844.5(COL2A1):c.1077C>T (p.Val359=)
|
rs202002349
|
|
|
NM_001844.5(COL2A1):c.1129G>T (p.Ala377Ser)
|
rs1045330263
|
|
|
NM_001844.5(COL2A1):c.1453G>A (p.Ala485Thr)
|
rs556023617
|
|
|
NM_001844.5(COL2A1):c.146C>T (p.Pro49Leu)
|
|
|
|
NM_001844.5(COL2A1):c.1996-3T>C
|
|
|
|
NM_001844.5(COL2A1):c.2485C>G (p.Pro829Ala)
|
rs745794356
|
|
|
NM_001844.5(COL2A1):c.262A>G (p.Ile88Val)
|
rs760745824
|
|
|
NM_001844.5(COL2A1):c.2714T>C (p.Val905Ala)
|
rs1271505111
|
|
|
NM_001844.5(COL2A1):c.3165+4_3165+7del
|
rs773138674
|
|
|
NM_001844.5(COL2A1):c.3166-8C>T
|
rs1555165207
|
|
|
NM_001844.5(COL2A1):c.3222C>A (p.Gly1074=)
|
rs746453469
|
|
|
NM_001844.5(COL2A1):c.3252G>T (p.Lys1084Asn)
|
|
|
|
NM_001844.5(COL2A1):c.3308C>G (p.Ala1103Gly)
|
rs1180226091
|
|
|
NM_001844.5(COL2A1):c.3316C>T (p.Arg1106Trp)
|
rs374036874
|
|
|
NM_001844.5(COL2A1):c.3439C>G (p.Pro1147Ala)
|
rs139720910
|
|
|
NM_001844.5(COL2A1):c.3511C>T (p.Pro1171Ser)
|
rs147750391
|
|
|
NM_001844.5(COL2A1):c.3561T>G (p.Pro1187=)
|
rs536885536
|
|
|
NM_001844.5(COL2A1):c.3756C>A (p.Asp1252Glu)
|
rs377079894
|
|
|
NM_001844.5(COL2A1):c.3886G>C (p.Gly1296Arg)
|
rs546672421
|
|
|
NM_001844.5(COL2A1):c.4005C>T (p.Asn1335=)
|
|
|
|
NM_001844.5(COL2A1):c.4414G>C (p.Gly1472Arg)
|
rs763352763
|
|
|
NM_001844.5(COL2A1):c.4436T>C (p.Val1479Ala)
|
rs1414146646
|
|
|
NM_001844.5(COL2A1):c.505C>A (p.Pro169Thr)
|
rs770027510
|
|
|
NM_001844.5(COL2A1):c.970-5T>C
|
rs2136605096
|
|
|
NM_001845.6(COL4A1):c.1605C>A (p.Phe535Leu)
|
|
|
|
NM_001845.6(COL4A1):c.2144G>A (p.Arg715His)
|
rs199573161
|
|
|
NM_001845.6(COL4A1):c.2144G>T (p.Arg715Leu)
|
rs199573161
|
|
|
NM_001845.6(COL4A1):c.3325+8A>C
|
|
|
|
NM_001845.6(COL4A1):c.3825A>G (p.Gly1275=)
|
|
|
|
NM_001845.6(COL4A1):c.4006G>A (p.Val1336Ile)
|
|
|
|
NM_001845.6(COL4A1):c.4151-10T>C
|
|
|
|
NM_001846.4(COL4A2):c.1623C>T (p.Pro541=)
|
|
|
|
NM_001846.4(COL4A2):c.2351G>A (p.Arg784Gln)
|
|
|
|
NM_001846.4(COL4A2):c.3169C>G (p.Pro1057Ala)
|
rs201763437
|
|
|
NM_001846.4(COL4A2):c.3563-4G>C
|
rs562701263
|
|
|
NM_001846.4(COL4A2):c.4450C>T (p.Arg1484Cys)
|
|
|
|
NM_001846.4(COL4A2):c.4754C>G (p.Pro1585Arg)
|
|
|
|
NM_001848.3(COL6A1):c.1226C>A (p.Ala409Glu)
|
rs765826390
|
|
|
NM_001848.3(COL6A1):c.1959C>T (p.Phe653=)
|
rs112104768
|
|
|
NM_001848.3(COL6A1):c.2220G>T (p.Pro740=)
|
rs138976133
|
|
|
NM_001848.3(COL6A1):c.631C>T (p.Arg211Cys)
|
rs375217284
|
|
|
NM_001849.4(COL6A2):c.1117-9C>T
|
rs1057523383
|
|
|
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn)
|
rs535007570
|
|
|
NM_001849.4(COL6A2):c.1769C>T (p.Thr590Met)
|
rs142709940
|
|
|
NM_001849.4(COL6A2):c.2200C>T (p.Arg734Cys)
|
rs886038496
|
|
|
NM_001849.4(COL6A2):c.2422+7G>A
|
rs773282809
|
|
|
NM_001849.4(COL6A2):c.2422+7G>T
|
rs773282809
|
|
|
NM_001849.4(COL6A2):c.2748C>A (p.His916Gln)
|
rs372206114
|
|
|
NM_001851.6(COL9A1):c.1342-11_1342-3del
|
rs774856588
|
|
|
NM_001851.6(COL9A1):c.1396-6T>C
|
rs1360782538
|
|
|
NM_001851.6(COL9A1):c.2076A>G (p.Glu692=)
|
rs557157592
|
|
|
NM_001851.6(COL9A1):c.468A>T (p.Ser156=)
|
|
|
|
NM_001851.6(COL9A1):c.559G>A (p.Val187Met)
|
rs773143381
|
|
|
NM_001851.6(COL9A1):c.56C>T (p.Pro19Leu)
|
rs146700420
|
|
|
NM_001852.4(COL9A2):c.1753G>A (p.Val585Met)
|
rs202153520
|
|
|
NM_001852.4(COL9A2):c.364-16A>G
|
rs1979785
|
|
|
NM_001852.4(COL9A2):c.480G>A (p.Pro160=)
|
rs745522018
|
|
|
NM_001852.4(COL9A2):c.747T>G (p.His249Gln)
|
rs747499674
|
|
|
NM_001853.4(COL9A3):c.182C>T (p.Pro61Leu)
|
rs149582526
|
|
|
NM_001853.4(COL9A3):c.701G>C (p.Arg234Pro)
|
rs150885737
|
|
|
NM_001853.4(COL9A3):c.846C>T (p.Leu282=)
|
|
|
|
NM_001854.4(COL11A1):c.1063T>C (p.Ser355Pro)
|
rs141036911
|
|
|
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile)
|
rs141817156
|
|
|
NM_001854.4(COL11A1):c.1263A>G (p.Ala421=)
|
rs760330151
|
|
|
NM_001854.4(COL11A1):c.1309-4A>T
|
|
|
|
NM_001854.4(COL11A1):c.1792-39ATG[11]
|
rs71752747
|
|
|
NM_001854.4(COL11A1):c.1792-39ATG[12]
|
rs71752747
|
|
|
NM_001854.4(COL11A1):c.1792-39ATG[13]
|
rs71752747
|
|
|
NM_001854.4(COL11A1):c.1945-19C>T
|
rs1571000550
|
|
|
NM_001854.4(COL11A1):c.2003T>C (p.Met668Thr)
|
rs767790003
|
|
|
NM_001854.4(COL11A1):c.2043+4T>A
|
rs764236870
|
|
|
NM_001854.4(COL11A1):c.2196+17T>C
|
|
|
|
NM_001854.4(COL11A1):c.274+5A>G
|
rs1571238473
|
|
|
NM_001854.4(COL11A1):c.2976T>C (p.Pro992=)
|
rs368868551
|
|
|
NM_001854.4(COL11A1):c.3069A>G (p.Ala1023=)
|
|
|
|
NM_001854.4(COL11A1):c.4172A>T (p.Lys1391Ile)
|
|
|
|
NM_001854.4(COL11A1):c.4228C>T (p.Arg1410Trp)
|
rs778331804
|
|
|
NM_001854.4(COL11A1):c.4303-13dup
|
rs35232764
|
|
|
NM_001854.4(COL11A1):c.4814G>A (p.Arg1605Gln)
|
|
|
|
NM_001854.4(COL11A1):c.560C>T (p.Thr187Met)
|
rs184606223
|
|
|
NM_001854.4(COL11A1):c.652-6dup
|
rs36076089
|
|
|
NM_001854.4(COL11A1):c.652-7_652-6dup
|
rs36076089
|
|
|
NM_001854.4(COL11A1):c.67G>T (p.Ala23Ser)
|
rs1386580787
|
|
|
NM_001854.4(COL11A1):c.787C>A (p.Pro263Thr)
|
rs372319750
|
|
|
NM_001866.3(COX7B):c.107A>G (p.Lys36Arg)
|
|
|
|
NM_001875.5(CPS1):c.1982-8A>T
|
rs563304664
|
|
|
NM_001875.5(CPS1):c.2143G>T (p.Val715Leu)
|
rs551261693
|
|
|
NM_001875.5(CPS1):c.2453C>T (p.Pro818Leu)
|
|
|
|
NM_001875.5(CPS1):c.2475C>T (p.Pro825=)
|
rs751784059
|
|
|
NM_001875.5(CPS1):c.2688-12A>G
|
rs376699772
|
|
|
NM_001875.5(CPS1):c.2771C>T (p.Thr924Ile)
|
rs150463750
|
|
|
NM_001875.5(CPS1):c.2959+8_2959+14del
|
rs765645129
|
|
|
NM_001875.5(CPS1):c.3313C>T (p.Pro1105Ser)
|
rs761921978
|
|
|
NM_001875.5(CPS1):c.3481-7G>C
|
rs368909569
|
|
|
NM_001875.5(CPS1):c.3952T>G (p.Leu1318Val)
|
rs769593170
|
|
|
NM_001875.5(CPS1):c.4237C>G (p.Gln1413Glu)
|
|
|
|
NM_001875.5(CPS1):c.74C>A (p.Ala25Glu)
|
|
|
|
NM_001875.5(CPS1):c.74C>T (p.Ala25Val)
|
rs149570645
|
|
|
NM_001876.4(CPT1A):c.160G>T (p.Val54Leu)
|
rs147389938
|
|
|
NM_001876.4(CPT1A):c.1653C>T (p.Phe551=)
|
rs1314725177
|
|
|
NM_001876.4(CPT1A):c.1704C>T (p.Ala568=)
|
rs1855045353
|
|
|
NM_001876.4(CPT1A):c.1958T>C (p.Ile653Thr)
|
|
|
|
NM_001876.4(CPT1A):c.2013C>A (p.Ser671=)
|
rs755323437
|
|
|
NM_001876.4(CPT1A):c.2235+9G>A
|
rs1946761066
|
|
|
NM_001876.4(CPT1A):c.535G>A (p.Val179Ile)
|
rs542856213
|
|
|
NM_001903.5(CTNNA1):c.1311C>G (p.Ala437=)
|
rs777730458
|
|
|
NM_001903.5(CTNNA1):c.1547-11T>A
|
rs1763590511
|
|
|
NM_001903.5(CTNNA1):c.2434-5C>G
|
rs369052669
|
|
|
NM_001904.4(CTNNB1):c.1320A>G (p.Gln440=)
|
rs2078362860
|
|
|
NM_001904.4(CTNNB1):c.1564G>A (p.Ala522Thr)
|
rs764576683
|
|
|
NM_001904.4(CTNNB1):c.2042C>T (p.Ser681Phe)
|
rs772401455
|
|
|
NM_001904.4(CTNNB1):c.2182G>C (p.Ala728Pro)
|
rs797045504
|
|
|
NM_001904.4(CTNNB1):c.583G>C (p.Val195Leu)
|
rs147382769
|
|
|
NM_001916.5(CYC1):c.323C>A (p.Thr108Asn)
|
|
|
|
NM_001918.5(DBT):c.1210-10dup
|
rs398123658
|
|
|
NM_001918.5(DBT):c.1282-14_1282-10del
|
rs752915898
|
|
|
NM_001918.5(DBT):c.1309G>A (p.Glu437Lys)
|
rs772490888
|
|
|
NM_001918.5(DBT):c.1389C>T (p.Phe463=)
|
rs886044964
|
|
|
NM_001927.4(DES):c.1024-3C>A
|
rs1553603530
|
|
|
NM_001927.4(DES):c.1353C>T (p.Ile451=)
|
rs121913002
|
|
|
NM_001927.4(DES):c.1372-3dup
|
rs876657769
|
|
|
NM_001927.4(DES):c.1404A>G (p.Glu468=)
|
rs397516691
|
|
|
NM_001927.4(DES):c.210G>C (p.Arg70=)
|
rs761255472
|
|
|
NM_001927.4(DES):c.404C>T (p.Ala135Val)
|
rs546741834
|
|
|
NM_001927.4(DES):c.735+11G>A
|
rs1559352868
|
|
|
NM_001927.4(DES):c.999C>T (p.Cys333=)
|
rs1157722667
|
|
|
NM_001933.5(DLST):c.12A>G (p.Arg4=)
|
|
|
|
NM_001933.5(DLST):c.147-17G>C
|
rs201278080
|
|
|
NM_001939.3(DRP2):c.683G>A (p.Arg228Gln)
|
|
|
|
NM_001940.4(ATN1):c.1464GCA[10] (p.Gln498_Gln502del)
|
rs60216939
|
|
|
NM_001940.4(ATN1):c.1464GCA[11] (p.Gln499_Gln502del)
|
rs60216939
|
|
|
NM_001940.4(ATN1):c.1464GCA[12] (p.Gln500_Gln502del)
|
rs60216939
|
|
|
NM_001940.4(ATN1):c.1464GCA[8] (p.Gln496_Gln502del)
|
rs60216939
|
|
|
NM_001940.4(ATN1):c.824C>T (p.Pro275Leu)
|
|
|
|
NM_001942.4(DSG1):c.2828T>C (p.Leu943Ser)
|
rs946952164
|
|
|
NM_001943.5(DSG2):c.1280+4AG[3]
|
rs876657791
|
|
|
NM_001943.5(DSG2):c.1932T>C (p.Phe644=)
|
rs2073265410
|
|
|
NM_001943.5(DSG2):c.2112T>G (p.Ile704Met)
|
rs794728081
|
|
|
NM_001943.5(DSG2):c.2178T>C (p.Ser726=)
|
rs749897373
|
|
|
NM_001943.5(DSG2):c.3056G>A (p.Arg1019Lys)
|
rs1057520867
|
|
|
NM_001943.5(DSG2):c.3175T>A (p.Ser1059Thr)
|
rs201786158
|
|
|
NM_001943.5(DSG2):c.3281_3283delinsTTA (p.Gly1094_His1095delinsValAsn)
|
rs386802145
|
|
|
NM_001943.5(DSG2):c.3304A>G (p.Thr1102Ala)
|
rs778884735
|
|
|
NM_001943.5(DSG2):c.45+10G>T
|
rs776975980
|
|
|
NM_001943.5(DSG2):c.828+13C>A
|
rs180926981
|
|
|
NM_001943.5(DSG2):c.829-4G>A
|
rs376424003
|
|
|
NM_001943.5(DSG2):c.877A>T (p.Ile293Leu)
|
rs2230234
|
|
|
NM_001953.4(TYMP):c.929-6_929-3del
|
rs201685922
|
|
|
NM_001953.5(TYMP):c.1044G>A (p.Ala348=)
|
rs886057633
|
|
|
NM_001953.5(TYMP):c.1321C>T (p.His441Tyr)
|
rs781153870
|
|
|
NM_001953.5(TYMP):c.190G>A (p.Gly64Arg)
|
rs767063709
|
|
|
NM_001953.5(TYMP):c.516+4C>T
|
rs369574115
|
|
|
NM_001953.5(TYMP):c.910G>A (p.Asp304Asn)
|
rs570438867
|
|
|
NM_001958.5(EEF1A2):c.1029+3G>T
|
rs111392970
|
|
|
NM_001963.6(EGF):c.2606C>T (p.Ser869Phe)
|
|
|
|
NM_001966.4(EHHADH):c.1652G>A (p.Arg551Gln)
|
|
|
|
NM_001966.4(EHHADH):c.411G>A (p.Gln137=)
|
rs148984368
|
|
|
NM_001987.5(ETV6):c.843C>G (p.Pro281=)
|
|
|
|
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr)
|
rs528255772
|
|
|
NM_001999.4(FBN2):c.2161G>A (p.Gly721Ser)
|
rs149733159
|
|
|
NM_001999.4(FBN2):c.287_289del (p.Tyr96del)
|
rs555068280
|
|
|
NM_001999.4(FBN2):c.3062G>A (p.Arg1021His)
|
rs139620380
|
|
|
NM_001999.4(FBN2):c.3218-13A>T
|
rs200543836
|
|
|
NM_001999.4(FBN2):c.3710G>A (p.Arg1237His)
|
rs142185964
|
|
|
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile)
|
rs147157552
|
|
|
NM_001999.4(FBN2):c.6055G>A (p.Glu2019Lys)
|
rs1554119321
|
|
|
NM_001999.4(FBN2):c.6167-4G>A
|
rs370981323
|
|
|
NM_001999.4(FBN2):c.645G>T (p.Pro215=)
|
rs764473594
|
|
|
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln)
|
rs142755118
|
|
|
NM_001999.4(FBN2):c.809G>A (p.Arg270His)
|
rs148971572
|
|
|
NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys)
|
rs370057212
|
|
|
NM_002047.4(GARS1):c.1614-4G>C
|
rs376324026
|
|
|
NM_002055.5(GFAP):c.376C>T (p.Arg126Trp)
|
|
|
|
NM_002055.5(GFAP):c.462-8dup
|
rs572562362
|
|
|
NM_002076.4(GNS):c.939T>G (p.Thr313=)
|
rs1869657867
|
|
|
NM_002080.4(GOT2):c.1069C>G (p.Gln357Glu)
|
|
|
|
NM_002103.5(GYS1):c.235C>T (p.Leu79=)
|
rs886054573
|
|
|
NM_002103.5(GYS1):c.417C>T (p.Ile139=)
|
rs758550328
|
|
|
NM_002133.3(HMOX1):c.709C>G (p.Arg237Gly)
|
rs145427664
|
|
|
NM_002156.5(HSPD1):c.*18dup
|
rs777031722
|
|
|
NM_002168.4(IDH2):c.695C>T (p.Ala232Val)
|
rs1227626398
|
|
|
NM_002180.3(IGHMBP2):c.861C>G (p.Ser287Arg)
|
rs564645287
|
|
|
NM_002181.4(IHH):c.228_229delinsAA (p.Arg77Ser)
|
rs886043368
|
|
|
NM_002185.5(IL7R):c.221+7G>A
|
rs200937717
|
|
|
NM_002185.5(IL7R):c.82+14A>T
|
|
|
|
NM_002206.3(ITGA7):c.2295C>T (p.Ile765=)
|
rs181711509
|
|
|
NM_002225.5(IVD):c.438A>G (p.Lys146=)
|
rs1007239169
|
|
|
NM_002225.5(IVD):c.870G>T (p.Gly290=)
|
rs1285915480
|
|
|
NM_002230.4(JUP):c.2055C>T (p.Ser685=)
|
rs1913708075
|
|
|
NM_002230.4(JUP):c.959G>A (p.Arg320His)
|
rs781965392
|
|
|
NM_002234.4(KCNA5):c.186G>C (p.Ser62=)
|
rs760015626
|
|
|
NM_002234.4(KCNA5):c.213_245del (p.Asp72_Pro82del)
|
rs144879674
|
|
|
NM_002234.4(KCNA5):c.859_860delinsTT (p.Ala287Leu)
|
rs1565465582
|
|
|
NM_002241.5(KCNJ10):c.300C>A (p.Asp100Glu)
|
rs139069413
|
|
|
NM_002242.4(KCNJ13):c.474G>T (p.Ala158=)
|
rs769501717
|
|
|
NM_002242.4(KCNJ13):c.558T>C (p.Asn186=)
|
rs886043769
|
|
|
NM_002250.3(KCNN4):c.1018C>A (p.His340Asn)
|
|
|
|
NM_002291.3(LAMB1):c.1422C>G (p.Ser474=)
|
rs780369106
|
|
|
NM_002291.3(LAMB1):c.3077G>A (p.Arg1026Gln)
|
rs193010498
|
|
|
NM_002291.3(LAMB1):c.3947-3T>C
|
|
|
|
NM_002291.3(LAMB1):c.423+3A>G
|
|
|
|
NM_002292.4(LAMB2):c.916-4A>G
|
rs886058677
|
|
|
NM_002294.3(LAMP2):c.-4G>C
|
rs200297370
|
|
|
NM_002294.3(LAMP2):c.1114GAC[1] (p.Asp373del)
|
rs730880494
|
|
|
NM_002294.3(LAMP2):c.865-8del
|
rs746330494
|
|
|
NM_002295.6(RPSA):c.627+4A>G
|
|
|
|
NM_002303.6(LEPR):c.1298A>G (p.Asn433Ser)
|
|
|
|
NM_002303.6(LEPR):c.575A>C (p.Glu192Ala)
|
|
|
|
NM_002303.6(LEPR):c.893T>C (p.Ile298Thr)
|
|
|
|
NM_002317.7(LOX):c.1035+4T>C
|
rs763804503
|
|
|
NM_002317.7(LOX):c.73G>A (p.Ala25Thr)
|
|
|
|
NM_002335.4(LRP5):c.-19del
|
rs763941232
|
|
|
NM_002335.4(LRP5):c.2779G>A (p.Gly927Ser)
|
rs764138752
|
|
|
NM_002335.4(LRP5):c.34CTG[11] (p.Leu19_Leu20dup)
|
rs72555376
|
|
|
NM_002335.4(LRP5):c.34CTG[7] (p.Leu19_Leu20del)
|
rs72555376
|
|
|
NM_002335.4(LRP5):c.3552C>A (p.Thr1184=)
|
rs764663599
|
|
|
NM_002335.4(LRP5):c.4111+3G>A
|
|
|
|
NM_002335.4(LRP5):c.54_55insTTG (p.Leu20_Ala21insLeu)
|
|
|
|
NM_002335.4(LRP5):c.943A>G (p.Ser315Gly)
|
|
|
|
NM_002336.3(LRP6):c.113A>G (p.Asn38Ser)
|
|
|
|
NM_002350.4(LYN):c.133-4G>A
|
|
|
|
NM_002354.3(EPCAM):c.267G>C (p.Gln89His)
|
rs146480420
|
|
|
NM_002381.5(MATN3):c.132C>T (p.Pro44=)
|
rs886043710
|
|
|
NM_002386.4(MC1R):c.169G>A (p.Ala57Thr)
|
rs201632257
|
|
|
NM_002386.4(MC1R):c.326G>A (p.Arg109Gln)
|
rs760458744
|
|
|
NM_002386.4(MC1R):c.815C>T (p.Thr272Met)
|
rs12102534
|
|
|
NM_002435.3(MPI):c.1086G>A (p.Leu362=)
|
rs905233208
|
|
|
NM_002435.3(MPI):c.1212C>T (p.Val404=)
|
rs2064843052
|
|
|
NM_002435.3(MPI):c.670+9A>T
|
rs7495739
|
|
|
NM_002435.3(MPI):c.678C>A (p.Ala226=)
|
rs199972529
|
|
|
NM_002435.3(MPI):c.845-10G>C
|
rs748693066
|
|
|
NM_002437.5(MPV17):c.279+9_279+11del
|
rs751559319
|
|
|
NM_002437.5(MPV17):c.450C>T (p.Pro150=)
|
rs1244633595
|
|
|
NM_002439.5(MSH3):c.1203G>T (p.Val401=)
|
rs1414371236
|
|
|
NM_002439.5(MSH3):c.1332A>G (p.Thr444=)
|
rs1252609685
|
|
|
NM_002439.5(MSH3):c.153TGCAGCGGC[3] (p.Ala60_Ala62dup)
|
rs758595508
|
|
|
NM_002439.5(MSH3):c.1911G>A (p.Glu637=)
|
rs1005120343
|
|
|
NM_002439.5(MSH3):c.2469A>G (p.Lys823=)
|
rs2112020238
|
|
|
NM_002439.5(MSH3):c.2586A>T (p.Gly862=)
|
rs1744630430
|
|
|
NM_002439.5(MSH3):c.3003G>A (p.Val1001=)
|
|
|
|
NM_002444.3(MSN):c.1222C>T (p.Arg408Trp)
|
rs748200741
|
|
|
NM_002454.3(MTRR):c.1875G>T (p.Val625=)
|
rs12347
|
|
|
NM_002454.3(MTRR):c.1998A>G (p.Gln666=)
|
rs767507060
|
|
|
NM_002454.3(MTRR):c.99A>C (p.Ala33=)
|
rs1747850617
|
|
|
NM_002465.4(MYBPC1):c.665+8C>T
|
rs199628742
|
|
|
NM_002470.4(MYH3):c.1002C>T (p.Asp334=)
|
|
|
|
NM_002470.4(MYH3):c.1960-17dup
|
rs3216884
|
|
|
NM_002470.4(MYH3):c.1960-5C>T
|
|
|
|
NM_002470.4(MYH3):c.3445G>C (p.Glu1149Gln)
|
rs145785711
|
|
|
NM_002471.4(MYH6):c.2702A>G (p.Asn901Ser)
|
rs1891315952
|
|
|
NM_002471.4(MYH6):c.2717G>A (p.Arg906His)
|
rs527636904
|
|
|
NM_002471.4(MYH6):c.3343-3del
|
rs1027186100
|
|
|
NM_002471.4(MYH6):c.3447C>G (p.Ser1149Arg)
|
rs564367705
|
|
|
NM_002471.4(MYH6):c.3979-7_3979-5del
|
rs397516764
|
|
|
NM_002471.4(MYH6):c.3979-7_3979-6del
|
rs796313537
|
|
|
NM_002471.4(MYH6):c.3979-8del
|
rs193922652
|
|
|
NM_002471.4(MYH6):c.3979-9_3979-7delinsGC
|
rs796876119
|
|
|
NM_002471.4(MYH6):c.4595G>T (p.Arg1532Leu)
|
rs34330111
|
|
|
NM_002471.4(MYH6):c.5476_5477delinsAA (p.Gly1826Asn)
|
rs878854502
|
|
|
NM_002472.3(MYH8):c.3254+1G>T
|
rs372740784
|
|
|
NM_002473.5(MYH9):c.2344G>A
|
rs139966058
|
|
|
NM_002473.6(MYH9):c.19G>T (p.Asp7Tyr)
|
rs762745890
|
|
|
NM_002473.6(MYH9):c.2267T>C (p.Ile756Thr)
|
|
|
|
NM_002473.6(MYH9):c.2404C>T (p.Arg802Trp)
|
|
|
|
NM_002473.6(MYH9):c.2632-8_2632-6del
|
rs773975934
|
|
|
NM_002473.6(MYH9):c.2728A>C (p.Lys910Gln)
|
|
|
|
NM_002473.6(MYH9):c.2976+9C>T
|
|
|
|
NM_002473.6(MYH9):c.3677G>T (p.Arg1226Leu)
|
rs200697030
|
|
|
NM_002473.6(MYH9):c.3817G>A (p.Asp1273Asn)
|
rs147031322
|
|
|
NM_002473.6(MYH9):c.3838G>A (p.Val1280Met)
|
rs141582478
|
|
|
NM_002473.6(MYH9):c.3942+5G>A
|
rs775695035
|
|
|
NM_002473.6(MYH9):c.4009G>A (p.Glu1337Lys)
|
rs1038334022
|
|
|
NM_002473.6(MYH9):c.4179C>G (p.Asp1393Glu)
|
rs727504829
|
|
|
NM_002473.6(MYH9):c.4406C>T (p.Ala1469Val)
|
|
|
|
NM_002473.6(MYH9):c.5107C>T (p.Arg1703Trp)
|
rs569541375
|
|
|
NM_002473.6(MYH9):c.5483+4C>T
|
rs56327920
|
|
|
NM_002473.6(MYH9):c.5711C>T (p.Thr1904Ile)
|
|
|
|
NM_002473.6(MYH9):c.5765+4A>G
|
|
|
|
NM_002473.6(MYH9):c.5788G>A (p.Val1930Met)
|
rs142565774
|
|
|
NM_002473.6(MYH9):c.5854G>C (p.Asp1952His)
|
|
|
|
NM_002474.3(MYH11):c.1249-15G>T
|
rs886051765
|
|
|
NM_002474.3(MYH11):c.1341C>A (p.Thr447=)
|
rs200660016
|
|
|
NM_002474.3(MYH11):c.2653-6G>A
|
rs200637980
|
|
|
NM_002474.3(MYH11):c.2665A>C (p.Lys889Gln)
|
rs762308378
|
|
|
NM_002474.3(MYH11):c.2860-5C>T
|
rs1223452979
|
|
|
NM_002474.3(MYH11):c.3255G>A (p.Leu1085=)
|
rs768298662
|
|
|
NM_002474.3(MYH11):c.3651+5T>G
|
rs794727439
|
|
|
NM_002474.3(MYH11):c.3651+6_3651+11del
|
rs371843272
|
|
|
NM_002474.3(MYH11):c.3874G>C (p.Val1292Leu)
|
rs151058774
|
|
|
NM_002474.3(MYH11):c.4240_4242delinsACG (p.Ala1414Thr)
|
rs794728676
|
|
|
NM_002474.3(MYH11):c.4821C>T (p.Asp1607=)
|
rs749424185
|
|
|
NM_002474.3(MYH11):c.4855AAG[2] (p.Lys1621del)
|
rs755547393
|
|
|
NM_002474.3(MYH11):c.5336C>T (p.Thr1779Met)
|
rs201960644
|
|
|
NM_002474.3(MYH11):c.727-11C>T
|
rs886051766
|
|
|
NM_002480.3(PPP1R12A):c.2474G>A (p.Arg825Lys)
|
|
|
|
NM_002485.5(NBN):c.-2C>A
|
rs202104448
|
|
|
NM_002485.5(NBN):c.1124+5A>T
|
rs587782108
|
|
|
NM_002485.5(NBN):c.1194A>G (p.Gln398=)
|
rs200046373
|
|
|
NM_002485.5(NBN):c.1232C>G (p.Ser411Cys)
|
rs551032019
|
|
|
NM_002485.5(NBN):c.1248G>A (p.Met416Ile)
|
rs756572268
|
|
|
NM_002485.5(NBN):c.1274G>A (p.Arg425Lys)
|
rs1060503478
|
|
|
NM_002485.5(NBN):c.1417C>A (p.Gln473Lys)
|
rs755805461
|
|
|
NM_002485.5(NBN):c.1432T>A (p.Cys478Ser)
|
rs1199013619
|
|
|
NM_002485.5(NBN):c.1846-11_1846-7del
|
rs1060504925
|
|
|
NM_002485.5(NBN):c.1870C>T (p.Arg624Cys)
|
rs962092255
|
|
|
NM_002485.5(NBN):c.1891C>G (p.Leu631Val)
|
rs1064793477
|
|
|
NM_002485.5(NBN):c.2022C>T (p.Gly674=)
|
rs1554556503
|
|
|
NM_002485.5(NBN):c.2071-4A>T
|
rs746994234
|
|
|
NM_002485.5(NBN):c.2071-6C>A
|
rs768670249
|
|
|
NM_002485.5(NBN):c.2185-7T>G
|
rs1563497932
|
|
|
NM_002485.5(NBN):c.266G>A (p.Arg89Gln)
|
rs747315554
|
|
|
NM_002485.5(NBN):c.27C>T (p.Gly9=)
|
rs1554569662
|
|
|
NM_002485.5(NBN):c.36A>C (p.Gly12=)
|
rs1554569658
|
|
|
NM_002485.5(NBN):c.37+6G>C
|
rs540868733
|
|
|
NM_002485.5(NBN):c.37+8C>T
|
rs1554569655
|
|
|
NM_002485.5(NBN):c.396A>G (p.Ile132Met)
|
rs1060503462
|
|
|
NM_002485.5(NBN):c.584+6T>C
|
rs1554566602
|
|
|
NM_002485.5(NBN):c.703-3T>C
|
rs876659566
|
|
|
NM_002485.5(NBN):c.758C>T (p.Thr253Ile)
|
rs61754967
|
|
|
NM_002485.5(NBN):c.832T>G (p.Ser278Ala)
|
rs1225178489
|
|
|
NM_002506.3(NGF):c.43G>A (p.Gly15Ser)
|
rs181255687
|
|
|
NM_002509.4(NKX2-2):c.259C>T (p.Leu87=)
|
|
|
|
NM_002528.7(NTHL1):c.-5C>G
|
rs552723791
|
|
|
NM_002528.7(NTHL1):c.108T>A (p.Ala36=)
|
|
|
|
NM_002528.7(NTHL1):c.115+10C>T
|
rs756945300
|
|
|
NM_002528.7(NTHL1):c.115+4G>A
|
rs780886475
|
|
|
NM_002528.7(NTHL1):c.330C>T (p.Cys110=)
|
rs2150945100
|
|
|
NM_002528.7(NTHL1):c.373C>T (p.Leu125=)
|
rs1397440217
|
|
|
NM_002528.7(NTHL1):c.384G>C (p.Leu128=)
|
rs755185485
|
|
|
NM_002528.7(NTHL1):c.525+10G>A
|
rs2150942168
|
|
|
NM_002528.7(NTHL1):c.526-10T>G
|
rs199771569
|
|
|
NM_002528.7(NTHL1):c.564G>A (p.Leu188=)
|
rs1596219422
|
|
|
NM_002528.7(NTHL1):c.585C>T (p.Asp195=)
|
rs2150941343
|
|
|
NM_002528.7(NTHL1):c.686-9T>C
|
rs1213514224
|
|
|
NM_002528.7(NTHL1):c.705C>T (p.His235=)
|
rs992194912
|
|
|
NM_002528.7(NTHL1):c.743C>T (p.Thr248Ile)
|
rs577781337
|
|
|
NM_002528.7(NTHL1):c.792-3C>T
|
rs3087467
|
|
|
NM_002529.4(NTRK1):c.1196-9T>C
|
rs760602338
|
|
|
NM_002529.4(NTRK1):c.1521C>T (p.Arg507=)
|
rs901135479
|
|
|
NM_002529.4(NTRK1):c.1569G>A (p.Lys523=)
|
rs1647889781
|
|
|
NM_002529.4(NTRK1):c.213-5C>G
|
rs757323460
|
|
|
NM_002529.4(NTRK1):c.2205+13C>A
|
rs1648175536
|
|
|
NM_002529.4(NTRK1):c.2214C>T (p.Asp738=)
|
rs1648253157
|
|
|
NM_002529.4(NTRK1):c.2301G>A (p.Glu767=)
|
rs753397054
|
|
|
NM_002529.4(NTRK1):c.435G>C (p.Leu145=)
|
rs1647275742
|
|
|
NM_002529.4(NTRK1):c.468G>C (p.Leu156=)
|
rs991397214
|
|
|
NM_002547.3(OPHN1):c.1686+6C>T
|
rs967522314
|
|
|
NM_002547.3(OPHN1):c.360G>A (p.Arg120=)
|
rs727504062
|
|
|
NM_002609.4(PDGFRB):c.1000C>T (p.Arg334Trp)
|
|
|
|
NM_002609.4(PDGFRB):c.1399G>A (p.Gly467Arg)
|
|
|
|
NM_002609.4(PDGFRB):c.176C>T (p.Pro59Leu)
|
rs202213873
|
|
|
NM_002609.4(PDGFRB):c.2281G>A (p.Val761Ile)
|
|
|
|
NM_002609.4(PDGFRB):c.2791G>A (p.Asp931Asn)
|
|
|
|
NM_002609.4(PDGFRB):c.3181G>A (p.Asp1061Asn)
|
|
|
|
NM_002615.7(SERPINF1):c.392C>A (p.Ala131Asp)
|
rs148005190
|
|
|
NM_002615.7(SERPINF1):c.643+8C>T
|
rs149399910
|
|
|
NM_002617.4(PEX10):c.333C>T (p.Leu111=)
|
rs781710848
|
|
|
NM_002618.4(PEX13):c.383G>T (p.Gly128Val)
|
rs554152771
|
|
|
NM_002618.4(PEX13):c.417A>G (p.Ala139=)
|
rs886056197
|
|
|
NM_002633.3(PGM1):c.1029-8C>G
|
rs752232600
|
|
|
NM_002633.3(PGM1):c.1065C>A (p.Thr355=)
|
rs773677629
|
|
|
NM_002633.3(PGM1):c.741G>A (p.Ser247=)
|
rs142222746
|
|
|
NM_002637.4(PHKA1):c.2685+8_2685+10del
|
rs782176924
|
|
|
NM_002667.5(PLN):c.90T>C (p.Asn30=)
|
rs868301643
|
|
|
NM_002691.4(POLD1):c.1128C>A (p.Asp376Glu)
|
rs1555790466
|
|
|
NM_002691.4(POLD1):c.1138-3C>A
|
rs200072694
|
|
|
NM_002691.4(POLD1):c.1138-4C>G
|
rs1601205954
|
|
|
NM_002691.4(POLD1):c.1138-5C>A
|
rs1374129343
|
|
|
NM_002691.4(POLD1):c.1138-5C>T
|
rs1374129343
|
|
|
NM_002691.4(POLD1):c.1140C>A (p.Ala380=)
|
rs1555790554
|
|
|
NM_002691.4(POLD1):c.1243-11CTC[2]
|
rs760329559
|
|
|
NM_002691.4(POLD1):c.1273G>T (p.Ala425Ser)
|
rs1027677934
|
|
|
NM_002691.4(POLD1):c.1384-13C>G
|
rs536467012
|
|
|
NM_002691.4(POLD1):c.143A>G (p.His48Arg)
|
rs1555789124
|
|
|
NM_002691.4(POLD1):c.1494+5C>T
|
rs565428379
|
|
|
NM_002691.4(POLD1):c.1495-3C>T
|
rs1555791320
|
|
|
NM_002691.4(POLD1):c.1630A>G (p.Ser544Gly)
|
rs2038922133
|
|
|
NM_002691.4(POLD1):c.1687-5C>T
|
rs199733325
|
|
|
NM_002691.4(POLD1):c.1716G>T (p.Val572=)
|
rs1568628387
|
|
|
NM_002691.4(POLD1):c.1776-4C>T
|
rs1568630035
|
|
|
NM_002691.4(POLD1):c.2007-4G>C
|
rs202035484
|
|
|
NM_002691.4(POLD1):c.2007-4G>T
|
rs202035484
|
|
|
NM_002691.4(POLD1):c.208G>A (p.Val70Ile)
|
rs147911699
|
|
|
NM_002691.4(POLD1):c.208G>T (p.Val70Phe)
|
rs147911699
|
|
|
NM_002691.4(POLD1):c.2155-5G>A
|
rs891420901
|
|
|
NM_002691.4(POLD1):c.217T>A (p.Ser73Thr)
|
rs775119313
|
|
|
NM_002691.4(POLD1):c.2232C>G (p.Gly744=)
|
rs1247893374
|
|
|
NM_002691.4(POLD1):c.2284C>A (p.Arg762=)
|
rs769650989
|
|
|
NM_002691.4(POLD1):c.2376G>A (p.Leu792=)
|
rs2039181523
|
|
|
NM_002691.4(POLD1):c.2563C>A (p.Arg855=)
|
rs768048535
|
|
|
NM_002691.4(POLD1):c.2565-5T>C
|
rs2122474072
|
|
|
NM_002691.4(POLD1):c.256G>C (p.Ala86Pro)
|
rs2122202540
|
|
|
NM_002691.4(POLD1):c.2717+11G>A
|
rs753506843
|
|
|
NM_002691.4(POLD1):c.2952G>A (p.Leu984=)
|
|
|
|
NM_002691.4(POLD1):c.3009G>T (p.Leu1003=)
|
rs747794145
|
|
|
NM_002691.4(POLD1):c.3068-5C>T
|
rs759650325
|
|
|
NM_002691.4(POLD1):c.3258G>C (p.Arg1086=)
|
rs776167760
|
|
|
NM_002691.4(POLD1):c.463+6T>G
|
rs759315897
|
|
|
NM_002691.4(POLD1):c.498G>T (p.Arg166=)
|
rs758097576
|
|
|
NM_002691.4(POLD1):c.588G>A (p.Glu196=)
|
rs2038667190
|
|
|
NM_002691.4(POLD1):c.632G>A (p.Arg211His)
|
rs373192520
|
|
|
NM_002691.4(POLD1):c.758+4C>G
|
rs771346692
|
|
|
NM_002691.4(POLD1):c.971-4G>T
|
rs200144991
|
|
|
NM_002691.4(POLD1):c.971-5C>G
|
rs778993986
|
|
|
NM_002691.4(POLD1):c.971-5C>T
|
rs778993986
|
|
|
NM_002693.2(POLG):c.125_139dup
|
rs780010436
|
|
|
NM_002693.3(POLG):c.*49G>A
|
rs758880377
|
|
|
NM_002693.3(POLG):c.119GGC[4] (p.Arg42dup)
|
rs761080016
|
|
|
NM_002693.3(POLG):c.1251-5C>T
|
rs199621975
|
|
|
NM_002693.3(POLG):c.125_139del (p.Arg42_Gln46del)
|
rs780010436
|
|
|
NM_002693.3(POLG):c.126GCA[4] (p.Gln49_Gln55del)
|
rs41550117
|
|
|
NM_002693.3(POLG):c.126GCA[5] (p.Gln50_Gln55del)
|
rs41550117
|
|
|
NM_002693.3(POLG):c.126GCA[7] (p.Gln52_Gln55del)
|
rs41550117
|
|
|
NM_002693.3(POLG):c.137A>G (p.Gln46Arg)
|
rs1555454339
|
|
|
NM_002693.3(POLG):c.155_166del (p.Gln52_Gln55del)
|
rs761909257
|
|
|
NM_002693.3(POLG):c.158_159delinsCT (p.Gln53Pro)
|
rs1064795981
|
|
|
NM_002693.3(POLG):c.158_166del (p.Gln53_Gln55del)
|
rs769735492
|
|
|
NM_002693.3(POLG):c.159_164dup (p.Gln54_Gln55dup)
|
rs760135553
|
|
|
NM_002693.3(POLG):c.1629C>T (p.Val543=)
|
rs56349446
|
|
|
NM_002693.3(POLG):c.1905G>A (p.Pro635=)
|
rs550592814
|
|
|
NM_002693.3(POLG):c.1905G>T (p.Pro635=)
|
rs550592814
|
|
|
NM_002693.3(POLG):c.1950-10C>T
|
rs749522324
|
|
|
NM_002693.3(POLG):c.2109C>T (p.Ala703=)
|
rs2307429
|
|
|
NM_002693.3(POLG):c.2121C>A (p.Asn707Lys)
|
rs755502359
|
|
|
NM_002693.3(POLG):c.2481-10A>C
|
rs555280530
|
|
|
NM_002693.3(POLG):c.264C>T (p.Phe88=)
|
rs144439703
|
|
|
NM_002693.3(POLG):c.3482+6C>T
|
rs55779802
|
|
|
NM_002693.3(POLG):c.3700C>A (p.Arg1234=)
|
rs144346886
|
|
|
NM_002693.3(POLG):c.381G>T (p.Leu127=)
|
rs1057524724
|
|
|
NM_002693.3(POLG):c.522C>G (p.Gly174=)
|
rs766842881
|
|
|
NM_002693.3(POLG):c.830A>T (p.His277Leu)
|
rs138929605
|
|
|
NM_002693.3(POLG):c.856-17CTC[6]
|
rs200056162
|
|
|
NM_002693.3(POLG):c.970C>A (p.Pro324Thr)
|
rs2307437
|
|
|
NM_002693.3(POLG):c.970C>T (p.Pro324Ser)
|
rs2307437
|
|
|
NM_002693.3(POLG):c.975C>A (p.Pro325=)
|
rs551973680
|
|
|
NM_002700.3(POU4F3):c.228C>T (p.Pro76=)
|
rs1581278124
|
|
|
NM_002700.3(POU4F3):c.948C>G (p.Asn316Lys)
|
rs149303333
|
|
|
NM_002709.3(PPP1CB):c.744+8A>G
|
|
|
|
NM_002734.5(PRKAR1A):c.349-5T>C
|
rs1456043929
|
|
|
NM_002734.5(PRKAR1A):c.441-5del
|
rs777677808
|
|
|
NM_002734.5(PRKAR1A):c.770-8T>G
|
rs182841147
|
|
|
NM_002738.7(PRKCB):c.995G>C (p.Gly332Ala)
|
|
|
|
NM_002769.5(PRSS1):c.186C>T (p.Gly62=)
|
|
|
|
NM_002769.5(PRSS1):c.298G>A (p.Asp100Asn)
|
|
|
|
NM_002769.5(PRSS1):c.351A>C (p.Ala117=)
|
rs606231346
|
|
|
NM_002769.5(PRSS1):c.354A>C (p.Val118=)
|
rs606231347
|
|
|
NM_002769.5(PRSS1):c.360C>T (p.Asn120=)
|
rs606231348
|
|
|
NM_002769.5(PRSS1):c.40+15C>T
|
rs760370254
|
|
|
NM_002769.5(PRSS1):c.40C>G (p.Leu14Val)
|
rs747228052
|
|
|
NM_002769.5(PRSS1):c.454+75A>G
|
rs1376416883
|
|
|
NM_002769.5(PRSS1):c.651_652delinsCT (p.Asp218Tyr)
|
rs1554499629
|
|
|
NM_002772.3(TMPRSS15):c.215C>T (p.Pro72Leu)
|
|
|
|
NM_002775.5(HTRA1):c.33_34insTCC (p.Leu11_Leu12insSer)
|
rs541533723
|
|
|
NM_002775.5(HTRA1):c.879C>A (p.Thr293=)
|
|
|
|
NM_002778.4(PSAP):c.1278C>T (p.Asn426=)
|
rs777227555
|
|
|
NM_002778.4(PSAP):c.409C>G (p.Leu137Val)
|
rs377027316
|
|
|
NM_002834.5(PTPN11):c.-13G>A
|
rs760374212
|
|
|
NM_002834.5(PTPN11):c.1448-5C>T
|
rs554790621
|
|
|
NM_002834.5(PTPN11):c.1599+4C>A
|
rs142606486
|
|
|
NM_002838.5(PTPRC):c.2142+7A>G
|
rs764731559
|
|
|
NM_002838.5(PTPRC):c.566T>A (p.Ile189Asn)
|
rs201715157
|
|
|
NM_002857.4(PEX19):c.162G>A (p.Ser54=)
|
rs540593146
|
|
|
NM_002857.4(PEX19):c.181-4G>T
|
rs747572423
|
|
|
NM_002858.4(ABCD3):c.122G>A (p.Gly41Glu)
|
|
|
|
NM_002860.4(ALDH18A1):c.2232G>C (p.Ser744=)
|
rs148601288
|
|
|
NM_002863.5(PYGL):c.1768+10C>T
|
rs780893472
|
|
|
NM_002863.5(PYGL):c.1970-7C>G
|
|
|
|
NM_002863.5(PYGL):c.2197T>C (p.Tyr733His)
|
|
|
|
NM_002875.5(RAD51):c.671C>G (p.Ala224Gly)
|
|
|
|
NM_002875.5(RAD51):c.896+6del
|
rs544409089
|
|
|
NM_002878.4(RAD51D):c.-7G>A
|
rs553444507
|
|
|
NM_002878.4(RAD51D):c.145-4G>T
|
rs201361465
|
|
|
NM_002878.4(RAD51D):c.145-4_145-3delinsTT
|
rs786202099
|
|
|
NM_002878.4(RAD51D):c.163C>T (p.Arg55Trp)
|
rs775268017
|
|
|
NM_002878.4(RAD51D):c.196G>T (p.Val66Leu)
|
rs56026142
|
|
|
NM_002878.4(RAD51D):c.345+4C>T
|
rs918947511
|
|
|
NM_002878.4(RAD51D):c.345+5A>T
|
rs878854562
|
|
|
NM_002878.4(RAD51D):c.345+6T>C
|
rs1555568466
|
|
|
NM_002878.4(RAD51D):c.412A>C (p.Asn138His)
|
rs141690729
|
|
|
NM_002878.4(RAD51D):c.481-4T>G
|
rs876659339
|
|
|
NM_002878.4(RAD51D):c.577-6C>A
|
rs1210749655
|
|
|
NM_002878.4(RAD51D):c.668-13CCT[4]
|
rs1230625396
|
|
|
NM_002878.4(RAD51D):c.691G>T (p.Ala231Ser)
|
rs772135704
|
|
|
NM_002878.4(RAD51D):c.751A>G (p.Ile251Val)
|
rs540273429
|
|
|
NM_002880.3(RAF1):c.1804-11_1804-7dup
|
rs727503382
|
|
|
NM_002880.4(RAF1):c.124_125delinsAT (p.Ala42Ile)
|
rs876657965
|
|
|
NM_002880.4(RAF1):c.1629G>C (p.Thr543=)
|
rs5746244
|
|
|
NM_002880.4(RAF1):c.1842G>A (p.Pro614=)
|
rs200235582
|
|
|
NM_002880.4(RAF1):c.309C>G (p.His103Gln)
|
rs1057520880
|
|
|
NM_002880.4(RAF1):c.868_870delinsACC (p.Pro290Thr)
|
rs2125380943
|
|
|
NM_002887.4(RARS1):c.741G>A (p.Met247Ile)
|
|
|
|
NM_002890.3(RASA1):c.1611-15G>A
|
rs1760796647
|
|
|
NM_002890.3(RASA1):c.2049G>C (p.Gly683=)
|
rs886060841
|
|
|
NM_002890.3(RASA1):c.407C>T (p.Pro136Leu)
|
rs769463654
|
|
|
NM_002890.3(RASA1):c.75G>A (p.Ala25=)
|
rs529924262
|
|
|
NM_002890.3(RASA1):c.899+8A>G
|
rs781285667
|
|
|
NM_002900.3(RBP3):c.1641G>A (p.Thr547=)
|
rs534717081
|
|
|
NM_002906.4(RDX):c.-64-6dup
|
rs61003001
|
|
|
NM_002906.4(RDX):c.468-12dup
|
rs368429159
|
|
|
NM_002907.4(RECQL):c.1098+6del
|
rs757895481
|
|
|
NM_002907.4(RECQL):c.1848G>A (p.Glu616=)
|
rs1369932572
|
|
|
NM_002907.4(RECQL):c.644G>T (p.Arg215Leu)
|
rs561515655
|
|
|
NM_002907.4(RECQL):c.701-10_701-7del
|
rs770192412
|
|
|
NM_002941.4(ROBO1):c.3503_3505dup (p.Gly1168dup)
|
rs148625921
|
|
|
NM_002941.4(ROBO1):c.4378C>A (p.Pro1460Thr)
|
|
|
|
NM_002968.2(SALL1):c.466_477dup (p.Ser159_Gly160insSerSerSerSer)
|
rs113614842
|
|
|
NM_002972.4(SBF1):c.1333-6C>G
|
rs781476014
|
|
|
NM_002972.4(SBF1):c.3689-9C>A
|
|
|
|
NM_002972.4(SBF1):c.5311C>T (p.Arg1771Cys)
|
rs138127298
|
|
|
NM_002972.4(SBF1):c.738C>T (p.Leu246=)
|
rs374299843
|
|
|
NM_003000.2(SDHB):c.424-16_424-14dup
|
rs34261028
|
|
|
NM_003000.3(SDHB):c.25T>C (p.Leu9=)
|
rs1060503768
|
|
|
NM_003002.4(SDHD):c.202A>G (p.Ser68Gly)
|
rs2135269276
|
|
|
NM_003002.4(SDHD):c.269C>T (p.Ala90Val)
|
rs200255724
|
|
|
NM_003036.4(SKI):c.1205G>A (p.Arg402Gln)
|
rs557289756
|
|
|
NM_003036.4(SKI):c.1890C>T (p.Ala630=)
|
rs773151547
|
|
|
NM_003038.5(SLC1A4):c.1313T>C (p.Ile438Thr)
|
rs141895894
|
|
|
NM_003051.4(SLC16A1):c.362-58TATT[13]
|
rs149491709
|
|
|
NM_003051.4(SLC16A1):c.362-58TATT[9]
|
rs149491709
|
|
|
NM_003052.5(SLC34A1):c.936+1307G>A
|
|
|
|
NM_003060.4(SLC22A5):c.252C>T (p.Tyr84=)
|
rs1253026669
|
|
|
NM_003060.4(SLC22A5):c.575A>G (p.Asn192Ser)
|
|
|
|
NM_003060.4(SLC22A5):c.592G>T (p.Val198Leu)
|
rs757979350
|
|
|
NM_003060.4(SLC22A5):c.685A>C (p.Ile229Leu)
|
|
|
|
NM_003060.4(SLC22A5):c.760C>A (p.Arg254=)
|
rs121908893
|
|
|
NM_003068.5(SNAI2):c.230C>G (p.Ser77Cys)
|
rs372039867
|
|
|
NM_003070.5(SMARCA2):c.3125+5A>G
|
|
|
|
NM_003070.5(SMARCA2):c.3344C>T (p.Pro1115Leu)
|
|
|
|
NM_003070.5(SMARCA2):c.4575AGA[1] (p.Glu1527del)
|
|
|
|
NM_003070.5(SMARCA2):c.669GCA[6] (p.Gln232_Gln238del)
|
rs113070757
|
|
|
NM_003070.5(SMARCA2):c.669GCA[7] (p.Gln233_Gln238del)
|
rs113070757
|
|
|
NM_003070.5(SMARCA2):c.669GCA[9] (p.Gln235_Gln238del)
|
rs113070757
|
|
|
NM_003070.5(SMARCA2):c.685_686insCGC (p.Gln228_Gln229insPro)
|
rs751906633
|
|
|
NM_003072.5(SMARCA4):c.*9A>T
|
rs369766168
|
|
|
NM_003072.5(SMARCA4):c.1118+7del
|
rs774132615
|
|
|
NM_003072.5(SMARCA4):c.1944-12C>A
|
rs149763341
|
|
|
NM_003072.5(SMARCA4):c.2275-3C>T
|
rs117611401
|
|
|
NM_003072.5(SMARCA4):c.234C>A (p.Ser78=)
|
rs1568419701
|
|
|
NM_003072.5(SMARCA4):c.3645A>G (p.Leu1215=)
|
rs1555784535
|
|
|
NM_003072.5(SMARCA4):c.407C>T (p.Ala136Val)
|
rs535299273
|
|
|
NM_003072.5(SMARCA4):c.4171-1861A>G
|
rs771462690
|
|
|
NM_003072.5(SMARCA4):c.4636-10C>A
|
rs878854228
|
|
|
NM_003072.5(SMARCA4):c.4665G>A (p.Ser1555=)
|
rs1201916615
|
|
|
NM_003072.5(SMARCA4):c.53C>T (p.Pro18Leu)
|
rs1060502087
|
|
|
NM_003072.5(SMARCA4):c.696TGGCCC[5] (p.229GP[10])
|
rs372601826
|
|
|
NM_003072.5(SMARCA4):c.708_731dup (p.229GP[12])
|
rs1555753690
|
|
|
NM_003072.5(SMARCA4):c.722_733del (p.229GP[6])
|
rs568390760
|
|
|
NM_003072.5(SMARCA4):c.791G>C (p.Gly264Ala)
|
rs797045988
|
|
|
NM_003072.5(SMARCA4):c.923C>T (p.Thr308Met)
|
rs770322996
|
|
|
NM_003072.5(SMARCA4):c.924G>A (p.Thr308=)
|
rs944736912
|
|
|
NM_003073.5(SMARCB1):c.336C>T (p.Ile112=)
|
rs2145964352
|
|
|
NM_003073.5(SMARCB1):c.558G>C (p.Leu186=)
|
rs751914353
|
|
|
NM_003073.5(SMARCB1):c.90C>T (p.Ser30=)
|
rs761868468
|
|
|
NM_003073.5(SMARCB1):c.987-4G>C
|
rs745773662
|
|
|
NM_003098.3(SNTA1):c.*8C>T
|
rs1399933359
|
|
|
NM_003105.6(SORL1):c.1247G>A (p.Arg416Gln)
|
rs377550239
|
|
|
NM_003108.4(SOX11):c.1039AGCGGCAGCAGC[1] (p.347SGSS[1])
|
rs751221446
|
|
|
NM_003108.4(SOX11):c.1045_1065dup (p.Gly355_Glu356insSerSerSerGlySerSerGly)
|
|
|
|
NM_003108.4(SOX11):c.456_467del (p.Gly153_Gly156del)
|
rs774530705
|
|
|
NM_003108.4(SOX11):c.588C>A (p.Asp196Glu)
|
rs544581532
|
|
|
NM_003108.4(SOX11):c.675CGA[10] (p.Asp233_Glu234insAsp)
|
|
|
|
NM_003119.4(SPG7):c.1923C>T (p.Asn641=)
|
|
|
|
NM_003119.4(SPG7):c.763C>T (p.Leu255=)
|
rs2058311848
|
|
|
NM_003126.4(SPTA1):c.121C>A (p.Arg41=)
|
rs121918640
|
|
|
NM_003126.4(SPTA1):c.1702C>T (p.Arg568Cys)
|
|
|
|
NM_003126.4(SPTA1):c.1703G>A (p.Arg568His)
|
rs200829664
|
|
|
NM_003126.4(SPTA1):c.1703G>C (p.Arg568Pro)
|
rs200829664
|
|
|
NM_003126.4(SPTA1):c.2204C>T (p.Ala735Val)
|
|
|
|
NM_003126.4(SPTA1):c.3674A>G (p.His1225Arg)
|
|
|
|
NM_003126.4(SPTA1):c.466C>T (p.Arg156Trp)
|
|
|
|
NM_003126.4(SPTA1):c.5834-18A>G
|
|
|
|
NM_003126.4(SPTA1):c.5911-17_5911-8del
|
rs554241455
|
|
|
NM_003126.4(SPTA1):c.6250G>C (p.Asp2084His)
|
|
|
|
NM_003126.4(SPTA1):c.6533C>T (p.Ala2178Val)
|
|
|
|
NM_003126.4(SPTA1):c.853C>A (p.Pro285Thr)
|
rs150007668
|
|
|
NM_003136.4(SRP54):c.887-3T>C
|
|
|
|
NM_003172.4(SURF1):c.226T>C (p.Leu76=)
|
rs782036327
|
|
|
NM_003183.6(ADAM17):c.1545-7_1545-5del
|
rs372560151
|
|
|
NM_003193.5(TBCE):c.660+9_660+10del
|
rs569925016
|
|
|
NM_003200.5(TCF3):c.550-5C>T
|
|
|
|
NM_003200.5(TCF3):c.550-8G>A
|
|
|
|
NM_003238.6(TGFB2):c.510+9C>T
|
rs1481374757
|
|
|
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)
|
rs35766612
|
|
|
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu)
|
rs35766612
|
|
|
NM_003242.6(TGFBR2):c.1254+8A>G
|
rs200630803
|
|
|
NM_003242.6(TGFBR2):c.1524+3A>G
|
rs1486137817
|
|
|
NM_003242.6(TGFBR2):c.202A>C (p.Met68Leu)
|
rs1060501985
|
|
|
NM_003242.6(TGFBR2):c.383del (p.Lys128fs)
|
rs79375991
|
|
|
NM_003242.6(TGFBR2):c.464C>T (p.Thr155Ile)
|
rs727504406
|
|
|
NM_003242.6(TGFBR2):c.550A>G (p.Ile184Val)
|
rs1371905176
|
|
|
NM_003283.6(TNNT1):c.611+12G>A
|
rs376456377
|
|
|
NM_003283.6(TNNT1):c.611+12G>T
|
rs376456377
|
|
|
NM_003289.4(TPM2):c.773-5_773-3dup
|
rs35401252
|
|
|
NM_003289.4(TPM2):c.81C>T (p.Ala27=)
|
rs564977715
|
|
|
NM_003319.4(TTN):c.13282+23498dup
|
rs727503644
|
|
|
NM_003319.4(TTN):c.20966-11dup
|
rs730880371
|
|
|
NM_003322.6(TULP1):c.1266C>T (p.Thr422=)
|
rs747534563
|
|
|
NM_003322.6(TULP1):c.829-7C>G
|
rs780382505
|
|
|
NM_003322.6(TULP1):c.846G>A (p.Pro282=)
|
rs149980694
|
|
|
NM_003322.6(TULP1):c.915G>A (p.Val305=)
|
rs1040415272
|
|
|
NM_003331.5(TYK2):c.2618-14C>G
|
rs532521303
|
|
|
NM_003331.5(TYK2):c.2715+9C>T
|
rs886054132
|
|
|
NM_003331.5(TYK2):c.789C>T (p.Leu263=)
|
|
|
|
NM_003334.4(UBA1):c.105G>A (p.Ser35=)
|
rs782781187
|
|
|
NM_003356.4(UCP3):c.284G>A (p.Arg95His)
|
|
|
|
NM_003361.4(UMOD):c.1182+4C>T
|
|
|
|
NM_003383.5(VLDLR):c.-42GGC[9]
|
rs71329437
|
|
|
NM_003383.5(VLDLR):c.203-4G>A
|
|
|
|
NM_003392.7(WNT5A):c.141-8C>T
|
rs188798140
|
|
|
NM_003394.4(WNT10B):c.854T>C (p.Ile285Thr)
|
|
|
|
NM_003413.4(ZIC3):c.135CGC[10] (p.Ala55dup)
|
rs748325646
|
|
|
NM_003413.4(ZIC3):c.135CGC[6] (p.Ala53_Ala55del)
|
rs748325646
|
|
|
NM_003413.4(ZIC3):c.135CGC[8] (p.Ala55del)
|
rs748325646
|
|
|
NM_003470.3(USP7):c.10CAG[6] (p.Gln10del)
|
|
|
|
NM_003470.3(USP7):c.12G>C (p.Gln4His)
|
|
|
|
NM_003476.5(CSRP3):c.324C>T (p.Ser108=)
|
|
|
|
NM_003476.5(CSRP3):c.334G>C (p.Ala112Pro)
|
rs727504905
|
|
|
NM_003476.5(CSRP3):c.509-3_509-2del
|
rs397516858
|
|
|
NM_003477.3(PDHX):c.160+9C>T
|
rs886042781
|
|
|
NM_003477.3(PDHX):c.343-7A>C
|
rs764804589
|
|
|
NM_003480.4(MFAP5):c.57T>C (p.Ser19=)
|
rs2136485750
|
|
|
NM_003480.4(MFAP5):c.87A>G (p.Gln29=)
|
|
|
|
NM_003482.4(KMT2D):c.10946G>T (p.Gly3649Val)
|
rs1943073751
|
|
|
NM_003482.4(KMT2D):c.11162TGCAGC[3] (p.3721LQ[3])
|
rs771711980
|
|
|
NM_003482.4(KMT2D):c.11568GCA[6] (p.Gln3863dup)
|
rs748986705
|
|
|
NM_003482.4(KMT2D):c.11738AGC[6] (p.Gln3919del)
|
rs576788910
|
|
|
NM_003482.4(KMT2D):c.11738AGC[8] (p.Gln3919dup)
|
rs576788910
|
|
|
NM_003482.4(KMT2D):c.11796ACAGCAGCA[1] (p.Gln3937_Gln3939del)
|
rs759803583
|
|
|
NM_003482.4(KMT2D):c.11819_11836dup (p.Leu3940_Gln3945dup)
|
rs1160407199
|
|
|
NM_003482.4(KMT2D):c.11850GCA[1] (p.Gln3954del)
|
rs886049475
|
|
|
NM_003482.4(KMT2D):c.12705G>A (p.Gln4235=)
|
rs905791071
|
|
|
NM_003482.4(KMT2D):c.1306GAG[1] (p.Glu437del)
|
rs771787499
|
|
|
NM_003482.4(KMT2D):c.13324G>A (p.Ala4442Thr)
|
|
|
|
NM_003482.4(KMT2D):c.13437G>T (p.Gly4479=)
|
rs727503981
|
|
|
NM_003482.4(KMT2D):c.13671+10dup
|
rs147210845
|
|
|
NM_003482.4(KMT2D):c.13797G>A (p.Ala4599=)
|
rs727503980
|
|
|
NM_003482.4(KMT2D):c.15668A>G (p.Asn5223Ser)
|
rs779303083
|
|
|
NM_003482.4(KMT2D):c.176+15G>A
|
rs1415205254
|
|
|
NM_003482.4(KMT2D):c.1940C>A (p.Pro647Gln)
|
rs200088180
|
|
|
NM_003482.4(KMT2D):c.2232_2258del (p.746RPEEPHLSP[1])
|
rs398123736
|
|
|
NM_003482.4(KMT2D):c.2256_2282del (p.746RPEEPHLSP[1])
|
rs587783707
|
|
|
NM_003482.4(KMT2D):c.2551C>T (p.Leu851=)
|
rs186151848
|
|
|
NM_003482.4(KMT2D):c.2860T>C (p.Leu954=)
|
rs398123740
|
|
|
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr)
|
rs143711798
|
|
|
NM_003482.4(KMT2D):c.3061C>T (p.Pro1021Ser)
|
|
|
|
NM_003482.4(KMT2D):c.4723A>C (p.Met1575Leu)
|
rs762474552
|
|
|
NM_003482.4(KMT2D):c.6456C>T (p.Gly2152=)
|
rs727503985
|
|
|
NM_003482.4(KMT2D):c.6607A>T (p.Thr2203Ser)
|
rs1943505364
|
|
|
NM_003482.4(KMT2D):c.7109G>C (p.Arg2370Pro)
|
rs373234419
|
|
|
NM_003482.4(KMT2D):c.7814A>G (p.Tyr2605Cys)
|
|
|
|
NM_003482.4(KMT2D):c.8032G>C (p.Glu2678Gln)
|
|
|
|
NM_003482.4(KMT2D):c.8107_8109del (p.Glu2703del)
|
rs771294848
|
|
|
NM_003482.4(KMT2D):c.8241C>A (p.Ser2747Arg)
|
rs1943376258
|
|
|
NM_003482.4(KMT2D):c.9439G>A (p.Ala3147Thr)
|
rs1555190514
|
|
|
NM_003482.4(KMT2D):c.9822GCA[5] (p.Gln3282dup)
|
rs768814728
|
|
|
NM_003482.4(KMT2D):c.9955G>A (p.Gly3319Ser)
|
rs1291730464
|
|
|
NM_003489.4(NRIP1):c.2146C>T (p.Leu716Phe)
|
|
|
|
NM_003489.4(NRIP1):c.2201G>A (p.Arg734Lys)
|
|
|
|
NM_003489.4(NRIP1):c.3235G>T (p.Val1079Phe)
|
|
|
|
NM_003489.4(NRIP1):c.453A>G (p.Gln151=)
|
|
|
|
NM_003494.4(DYSF):c.4C>T (p.Leu2=)
|
rs772536111
|
|
|
NM_003500.4(ACOX2):c.1632+6C>T
|
|
|
|
NM_003560.4(PLA2G6):c.266C>A (p.Ser89Tyr)
|
rs142715413
|
|
|
NM_003571.4(BFSP2):c.517C>T (p.Arg173Trp)
|
rs375380005
|
|
|
NM_003590.5(CUL3):c.696A>G (p.Val232=)
|
|
|
|
NM_003620.4(PPM1D):c.1599C>G (p.Asn533Lys)
|
rs996571214
|
|
|
NM_003630.3(PEX3):c.288-3T>C
|
|
|
|
NM_003632.3(CNTNAP1):c.170-6C>G
|
|
|
|
NM_003640.5(ELP1):c.1189+20G>A
|
rs999307275
|
|
|
NM_003640.5(ELP1):c.169T>C (p.Leu57=)
|
rs886063349
|
|
|
NM_003640.5(ELP1):c.1957T>C (p.Leu653=)
|
rs542412132
|
|
|
NM_003640.5(ELP1):c.3441A>G (p.Gln1147=)
|
rs779796058
|
|
|
NM_003659.4(AGPS):c.638-7T>C
|
rs886044553
|
|
|
NM_003664.5(AP3B1):c.1798G>T (p.Ala600Ser)
|
rs149263390
|
|
|
NM_003664.5(AP3B1):c.2769A>C (p.Lys923Asn)
|
rs201179527
|
|
|
NM_003672.4(CDC14A):c.28G>C (p.Gly10Arg)
|
rs571098288
|
|
|
NM_003673.4(TCAP):c.313G>A (p.Glu105Lys)
|
rs146906267
|
|
|
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del)
|
rs397516862
|
|
|
NM_003705.5(SLC25A12):c.1545C>G (p.His515Gln)
|
|
|
|
NM_003718.5(CDK13):c.1906_1908del (p.Lys636del)
|
|
|
|
NM_003718.5(CDK13):c.2068A>G (p.Thr690Ala)
|
|
|
|
NM_003718.5(CDK13):c.2181T>G (p.Thr727=)
|
|
|
|
NM_003718.5(CDK13):c.4444A>C (p.Thr1482Pro)
|
|
|
|
NM_003722.5(TP63):c.435G>C (p.Ala145=)
|
rs546908184
|
|
|
NM_003737.4(DCHS1):c.1936C>G (p.Arg646Gly)
|
rs199875933
|
|
|
NM_003737.4(DCHS1):c.2595G>A (p.Val865=)
|
rs541336434
|
|
|
NM_003737.4(DCHS1):c.5972G>A (p.Arg1991His)
|
|
|
|
NM_003737.4(DCHS1):c.7207C>T (p.Arg2403Trp)
|
rs141901540
|
|
|
NM_003737.4(DCHS1):c.8186A>T (p.His2729Leu)
|
rs148148252
|
|
|
NM_003737.4(DCHS1):c.8611C>T (p.Arg2871Trp)
|
|
|
|
NM_003737.4(DCHS1):c.8972G>A (p.Arg2991Gln)
|
rs200152314
|
|
|
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer)
|
rs56126236
|
|
|
NM_003742.4(ABCB11):c.1435-13_1435-8del
|
rs748716950
|
|
|
NM_003742.4(ABCB11):c.1441G>A (p.Val481Met)
|
|
|
|
NM_003742.4(ABCB11):c.1608T>C (p.Asn536=)
|
rs1227759001
|
|
|
NM_003742.4(ABCB11):c.1857G>T (p.Thr619=)
|
rs760948323
|
|
|
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=)
|
rs200087122
|
|
|
NM_003742.4(ABCB11):c.2700G>A (p.Leu900=)
|
rs371263629
|
|
|
NM_003742.4(ABCB11):c.477+8G>T
|
rs745477056
|
|
|
NM_003742.4(ABCB11):c.585G>C (p.Val195=)
|
rs11568365
|
|
|
NM_003742.4(ABCB11):c.896G>A (p.Arg299Lys)
|
rs2287617
|
|
|
NM_003748.4(ALDH4A1):c.1086G>C (p.Pro362=)
|
rs41310410
|
|
|
NM_003748.4(ALDH4A1):c.1460+15C>T
|
rs371777923
|
|
|
NM_003754.3(EIF3F):c.591C>T (p.Pro197=)
|
|
|
|
NM_003754.3(EIF3F):c.719C>T (p.Ala240Val)
|
|
|
|
NM_003764.4(STX11):c.221C>T (p.Thr74Met)
|
rs540150447
|
|
|
NM_003764.4(STX11):c.264C>T (p.Ser88=)
|
rs774895225
|
|
|
NM_003764.4(STX11):c.63C>T (p.Asp21=)
|
rs149176821
|
|
|
NM_003793.4(CTSF):c.160C>A (p.Arg54=)
|
rs776443007
|
|
|
NM_003835.4(RGS9):c.313_314delinsGG (p.Thr105Gly)
|
rs797044755
|
|
|
NM_003839.4(TNFRSF11A):c.426G>C (p.Pro142=)
|
rs139968917
|
|
|
NM_003839.4(TNFRSF11A):c.637G>A (p.Gly213Ser)
|
rs766330561
|
|
|
NM_003846.3(PEX11B):c.238G>A (p.Val80Ile)
|
rs587764801
|
|
|
NM_003849.4(SUCLG1):c.242A>C (p.Lys81Thr)
|
rs564792232
|
|
|
NM_003849.4(SUCLG1):c.537A>G (p.Gly179=)
|
rs1553393580
|
|
|
NM_003850.3(SUCLA2):c.-3_-2del
|
rs570547911
|
|
|
NM_003859.3(DPM1):c.161+10C>T
|
rs779869066
|
|
|
NM_003859.3(DPM1):c.84G>A (p.Ser28=)
|
rs16995639
|
|
|
NM_003865.3(HESX1):c.-7C>A
|
|
|
|
NM_003872.3(NRP2):c.2425+9707G>A
|
|
|
|
NM_003900.5(SQSTM1):c.835GAG[1] (p.Glu280del)
|
rs752009611
|
|
|
NM_003906.5(MCM3AP):c.2392G>A (p.Val798Ile)
|
|
|
|
NM_003906.5(MCM3AP):c.3336-7C>T
|
|
|
|
NM_003906.5(MCM3AP):c.4204G>A (p.Asp1402Asn)
|
|
|
|
NM_003919.3(SGCE):c.436T>A (p.Leu146Met)
|
rs752074255
|
|
|
NM_003922.4(HERC1):c.9273A>G (p.Glu3091=)
|
|
|
|
NM_003924.4(PHOX2B):c.42C>T (p.Tyr14=)
|
rs775101470
|
|
|
NM_003924.4(PHOX2B):c.741C>G (p.Ala247=)
|
rs764470906
|
|
|
NM_003978.5(PSTPIP1):c.59C>T (p.Thr20Met)
|
rs553718554
|
|
|
NM_003978.5(PSTPIP1):c.796G>A (p.Asp266Asn)
|
rs104895418
|
|
|
NM_003982.4(SLC7A7):c.1095+6T>C
|
rs531862402
|
|
|
NM_003982.4(SLC7A7):c.1263G>A (p.Pro421=)
|
rs1043886041
|
|
|
NM_003982.4(SLC7A7):c.499+9G>C
|
rs893853391
|
|
|
NM_003982.4(SLC7A7):c.591G>A (p.Ala197=)
|
rs750720946
|
|
|
NM_003982.4(SLC7A7):c.931A>G (p.Ile311Val)
|
rs539843065
|
|
|
NM_004006.3(DMD):c.*23_*35del
|
rs752332058
|
|
|
NM_004006.3(DMD):c.*479CA[6]
|
rs763028610
|
|
|
NM_004006.3(DMD):c.-29dup
|
rs398123823
|
|
|
NM_004006.3(DMD):c.1098A>T (p.Gly366=)
|
rs72470507
|
|
|
NM_004006.3(DMD):c.1311T>G (p.Ala437=)
|
rs398123855
|
|
|
NM_004006.3(DMD):c.1687C>A (p.Arg563Ser)
|
rs145739725
|
|
|
NM_004006.3(DMD):c.1889C>A (p.Thr630Lys)
|
rs1057523223
|
|
|
NM_004006.3(DMD):c.2827C>A (p.Arg943Ser)
|
rs199986217
|
|
|
NM_004006.3(DMD):c.3080G>C (p.Gly1027Ala)
|
rs370171367
|
|
|
NM_004006.3(DMD):c.31+134AT[6]
|
rs764891575
|
|
|
NM_004006.3(DMD):c.3433-20GTTT[2]
|
rs771258264
|
|
|
NM_004006.3(DMD):c.3649C>G (p.Leu1217Val)
|
rs886042839
|
|
|
NM_004006.3(DMD):c.3696A>C (p.Ala1232=)
|
rs369971712
|
|
|
NM_004006.3(DMD):c.3696A>G (p.Ala1232=)
|
rs369971712
|
|
|
NM_004006.3(DMD):c.445C>A (p.Arg149Ser)
|
rs774139970
|
|
|
NM_004006.3(DMD):c.468A>C (p.Val156=)
|
rs886044031
|
|
|
NM_004006.3(DMD):c.4941G>A (p.Thr1647=)
|
rs750090479
|
|
|
NM_004006.3(DMD):c.579A>T (p.Thr193=)
|
rs766344083
|
|
|
NM_004006.3(DMD):c.5933G>A (p.Arg1978His)
|
rs148135406
|
|
|
NM_004006.3(DMD):c.76A>G (p.Asn26Asp)
|
rs1057521321
|
|
|
NM_004006.3(DMD):c.7712G>A (p.Arg2571Gln)
|
rs371588290
|
|
|
NM_004006.3(DMD):c.8169G>C (p.Arg2723Ser)
|
rs1569139778
|
|
|
NM_004006.3(DMD):c.8172C>T (p.Leu2724=)
|
rs886044500
|
|
|
NM_004006.3(DMD):c.8322G>T (p.Leu2774=)
|
rs72466575
|
|
|
NM_004006.3(DMD):c.8651T>C (p.Leu2884Pro)
|
|
|
|
NM_004006.3(DMD):c.932A>G (p.Asp311Gly)
|
rs760932600
|
|
|
NM_004006.3(DMD):c.9352G>T (p.Ala3118Ser)
|
rs200928985
|
|
|
NM_004035.7(ACOX1):c.1479-12A>G
|
rs2065755060
|
|
|
NM_004035.7(ACOX1):c.1866C>A (p.Gly622=)
|
rs886053456
|
|
|
NM_004035.7(ACOX1):c.270-8C>G
|
rs751892262
|
|
|
NM_004036.5(ADCY3):c.2196G>A (p.Thr732=)
|
|
|
|
NM_004036.5(ADCY3):c.3252+5G>T
|
|
|
|
NM_004046.6(ATP5F1A):c.389T>C (p.Ile130Thr)
|
|
|
|
NM_004055.5(CAPN5):c.1649G>A (p.Arg550His)
|
rs782717683
|
|
|
NM_004064.5(CDKN1B):c.-31AG[1]
|
rs774454456
|
|
|
NM_004064.5(CDKN1B):c.271C>T (p.Pro91Ser)
|
rs769828807
|
|
|
NM_004064.5(CDKN1B):c.27G>A (p.Gly9=)
|
rs1060503869
|
|
|
NM_004064.5(CDKN1B):c.326T>A (p.Val109Asp)
|
rs2066827
|
|
|
NM_004064.5(CDKN1B):c.372C>T (p.Asn124=)
|
rs760081465
|
|
|
NM_004064.5(CDKN1B):c.397C>A (p.Pro133Thr)
|
rs137985549
|
|
|
NM_004064.5(CDKN1B):c.449G>C (p.Gly150Ala)
|
rs772818396
|
|
|
NM_004068.4(AP2M1):c.423+4C>A
|
rs372570685
|
|
|
NM_004092.4(ECHS1):c.22C>T (p.Leu8=)
|
|
|
|
NM_004100.5(EYA4):c.*1142del
|
rs886061091
|
|
|
NM_004100.5(EYA4):c.103C>G (p.Leu35Val)
|
rs35562371
|
|
|
NM_004100.5(EYA4):c.899C>A (p.Ala300Asp)
|
rs757252384
|
|
|
NM_004104.5(FASN):c.820C>T (p.Arg274Cys)
|
rs562846615
|
|
|
NM_004136.4(IREB2):c.656A>C (p.Glu219Ala)
|
|
|
|
NM_004168.4(SDHA):c.-7A>C
|
rs751633537
|
|
|
NM_004168.4(SDHA):c.1894G>T (p.Val632Phe)
|
rs369639811
|
|
|
NM_004168.4(SDHA):c.1945_1946del (p.Leu649fs)
|
rs112307877
|
|
|
NM_004168.4(SDHA):c.830C>T (p.Thr277Met)
|
rs367721665
|
|
|
NM_004171.4(SLC1A2):c.668C>A (p.Pro223Gln)
|
rs142741081
|
|
|
NM_004172.5(SLC1A3):c.745T>G (p.Phe249Val)
|
rs547834086
|
|
|
NM_004186.5(SEMA3F):c.10G>A (p.Ala4Thr)
|
|
|
|
NM_004187.5(KDM5C):c.1794C>T (p.Pro598=)
|
rs35353912
|
|
|
NM_004187.5(KDM5C):c.2496G>T (p.Leu832=)
|
rs139444870
|
|
|
NM_004187.5(KDM5C):c.3072G>T (p.Glu1024Asp)
|
rs2146833113
|
|
|
NM_004187.5(KDM5C):c.3088C>T (p.Arg1030Trp)
|
rs782388435
|
|
|
NM_004187.5(KDM5C):c.4338C>T (p.His1446=)
|
rs797044695
|
|
|
NM_004230.4(S1PR2):c.429C>T (p.Asp143=)
|
rs774990809
|
|
|
NM_004237.4(TRIP13):c.92+6C>G
|
|
|
|
NM_004239.4(TRIP11):c.4892+10del
|
rs794727098
|
|
|
NM_004239.4(TRIP11):c.5829C>T (p.Pro1943=)
|
rs748903681
|
|
|
NM_004247.4(EFTUD2):c.619+6A>T
|
|
|
|
NM_004260.4(RECQL4):c.1028C>T (p.Pro343Leu)
|
rs549381989
|
|
|
NM_004260.4(RECQL4):c.2086C>A (p.Arg696Ser)
|
rs531970883
|
|
|
NM_004260.4(RECQL4):c.213+6del
|
rs535285068
|
|
|
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln)
|
rs34666647
|
|
|
NM_004260.4(RECQL4):c.3624C>A (p.Arg1208=)
|
rs56341125
|
|
|
NM_004273.5(CHST3):c.195C>T (p.Thr65=)
|
rs759935618
|
|
|
NM_004273.5(CHST3):c.306C>T (p.Gly102=)
|
rs776007496
|
|
|
NM_004281.4(BAG3):c.1541A>G (p.Asn514Ser)
|
rs1564776999
|
|
|
NM_004281.4(BAG3):c.1554T>A (p.Asp518Glu)
|
rs139125612
|
|
|
NM_004281.4(BAG3):c.212G>T (p.Arg71Leu)
|
rs35434411
|
|
|
NM_004281.4(BAG3):c.782G>A (p.Arg261Gln)
|
rs746454994
|
|
|
NM_004287.5(GOSR2):c.363C>T (p.Asp121=)
|
rs886053078
|
|
|
NM_004304.5(ALK):c.1084A>G (p.Ile362Val)
|
rs1465809492
|
|
|
NM_004304.5(ALK):c.1183C>T (p.Arg395Cys)
|
rs779282861
|
|
|
NM_004304.5(ALK):c.1428G>A (p.Val476=)
|
rs1667017111
|
|
|
NM_004304.5(ALK):c.1865T>C (p.Ile622Thr)
|
rs1665516730
|
|
|
NM_004304.5(ALK):c.1890C>T (p.Ile630=)
|
rs1278070199
|
|
|
NM_004304.5(ALK):c.1911C>T (p.Thr637=)
|
rs1553402750
|
|
|
NM_004304.5(ALK):c.2073C>T (p.Ser691=)
|
rs370435082
|
|
|
NM_004304.5(ALK):c.2284A>G (p.Ile762Val)
|
rs751419856
|
|
|
NM_004304.5(ALK):c.2391G>A (p.Glu797=)
|
rs372037531
|
|
|
NM_004304.5(ALK):c.2501T>A (p.Val834Glu)
|
rs750849080
|
|
|
NM_004304.5(ALK):c.2703C>G (p.Thr901=)
|
|
|
|
NM_004304.5(ALK):c.2874C>T (p.Phe958=)
|
|
|
|
NM_004304.5(ALK):c.2901C>A (p.Thr967=)
|
rs886055930
|
|
|
NM_004304.5(ALK):c.291G>T (p.Pro97=)
|
rs2148443574
|
|
|
NM_004304.5(ALK):c.310C>A (p.Pro104Thr)
|
rs576431612
|
|
|
NM_004304.5(ALK):c.3358C>A (p.Arg1120=)
|
rs774951734
|
|
|
NM_004304.5(ALK):c.3360G>A (p.Arg1120=)
|
rs747985440
|
|
|
NM_004304.5(ALK):c.3646-13T>C
|
rs2148159628
|
|
|
NM_004304.5(ALK):c.3663G>A (p.Leu1221=)
|
rs751889072
|
|
|
NM_004304.5(ALK):c.3939-5C>T
|
rs1573084845
|
|
|
NM_004304.5(ALK):c.398G>A (p.Arg133His)
|
rs768229646
|
|
|
NM_004304.5(ALK):c.4272C>T (p.Leu1424=)
|
|
|
|
NM_004304.5(ALK):c.4298A>G (p.Glu1433Gly)
|
rs1668950412
|
|
|
NM_004304.5(ALK):c.4471A>C (p.Lys1491Gln)
|
|
|
|
NM_004304.5(ALK):c.46A>G (p.Thr16Ala)
|
rs1572504096
|
|
|
NM_004304.5(ALK):c.510C>T (p.Leu170=)
|
rs886055933
|
|
|
NM_004304.5(ALK):c.536G>A (p.Arg179His)
|
rs1316424431
|
|
|
NM_004304.5(ALK):c.615C>A (p.Ser205=)
|
rs567498111
|
|
|
NM_004304.5(ALK):c.616G>A (p.Ala206Thr)
|
rs141093002
|
|
|
NM_004304.5(ALK):c.660C>T (p.Phe220=)
|
rs1667944556
|
|
|
NM_004304.5(ALK):c.7G>A (p.Ala3Thr)
|
rs1446332510
|
|
|
NM_004304.5(ALK):c.822G>A (p.Leu274=)
|
rs1265006535
|
|
|
NM_004312.3(ARR3):c.1052C>T (p.Pro351Leu)
|
rs140505250
|
|
|
NM_004316.4(ASCL1):c.151CAG[16] (p.Gln62_Ala63insGlnGlnGlnGln)
|
rs3832799
|
|
|
NM_004316.4(ASCL1):c.151CAG[17] (p.Gln62_Ala63insGlnGlnGlnGlnGln)
|
rs3832799
|
|
|
NM_004318.4(ASPH):c.34_51dup (p.Asn12_Gly17dup)
|
rs781622171
|
|
|
NM_004329.3(BMPR1A):c.1343-5T>C
|
rs1554891558
|
|
|
NM_004329.3(BMPR1A):c.231-9C>T
|
rs763313220
|
|
|
NM_004329.3(BMPR1A):c.297G>T (p.Gly99=)
|
rs1251509897
|
|
|
NM_004329.3(BMPR1A):c.333+6A>T
|
rs1473659802
|
|
|
NM_004329.3(BMPR1A):c.415C>T (p.Pro139Ser)
|
rs772163112
|
|
|
NM_004329.3(BMPR1A):c.430+10C>T
|
rs863224395
|
|
|
NM_004329.3(BMPR1A):c.505A>T (p.Ile169Phe)
|
rs878854668
|
|
|
NM_004329.3(BMPR1A):c.729C>T (p.Gly243=)
|
rs770821763
|
|
|
NM_004329.3(BMPR1A):c.733T>A (p.Tyr245Asn)
|
rs369012159
|
|
|
NM_004329.3(BMPR1A):c.953A>G (p.Tyr318Cys)
|
rs587778111
|
|
|
NM_004333.6(BRAF):c.111G>A (p.Ser37=)
|
rs727502906
|
|
|
NM_004333.6(BRAF):c.1207C>G (p.Pro403Ala)
|
rs749792302
|
|
|
NM_004333.6(BRAF):c.1789C>T (p.Leu597=)
|
rs121913369
|
|
|
NM_004333.6(BRAF):c.76G>A (p.Glu26Lys)
|
rs397507457
|
|
|
NM_004333.6(BRAF):c.83GCGCCG[1] (p.28GA[1])
|
rs397507458
|
|
|
NM_004333.6(BRAF):c.83GCGCCG[2] (p.28GA[2])
|
rs397507458
|
|
|
NM_004333.6(BRAF):c.83GCGCCG[4] (p.28GA[4])
|
rs397507458
|
|
|
NM_004333.6(BRAF):c.858T>G (p.Leu286=)
|
rs758553809
|
|
|
NM_004333.6(BRAF):c.918C>G (p.Ser306=)
|
rs794727865
|
|
|
NM_004336.5(BUB1):c.2203+4C>T
|
|
|
|
NM_004341.5(CAD):c.1536C>T (p.Thr512=)
|
rs368889621
|
|
|
NM_004357.5(CD151):c.294C>T (p.Leu98=)
|
|
|
|
NM_004360.5(CDH1):c.-2C>T
|
rs1567470707
|
|
|
NM_004360.5(CDH1):c.-8G>C
|
rs879449703
|
|
|
NM_004360.5(CDH1):c.1008+8G>T
|
rs990193541
|
|
|
NM_004360.5(CDH1):c.1032G>A (p.Val344=)
|
rs2152132524
|
|
|
NM_004360.5(CDH1):c.1083T>G (p.Ala361=)
|
|
|
|
NM_004360.5(CDH1):c.1137+9A>G
|
rs780705655
|
|
|
NM_004360.5(CDH1):c.113C>T (p.Thr38Met)
|
rs587778171
|
|
|
NM_004360.5(CDH1):c.1143G>A (p.Lys381=)
|
rs143727462
|
|
|
NM_004360.5(CDH1):c.1160A>G (p.Asn387Ser)
|
rs779426744
|
|
|
NM_004360.5(CDH1):c.1170C>T (p.Asn390=)
|
rs766505270
|
|
|
NM_004360.5(CDH1):c.1241C>G (p.Thr414Ser)
|
rs755571454
|
|
|
NM_004360.5(CDH1):c.1363G>A (p.Ala455Thr)
|
rs876659762
|
|
|
NM_004360.5(CDH1):c.1475G>C (p.Arg492Thr)
|
rs587781286
|
|
|
NM_004360.5(CDH1):c.1530C>T (p.Ala510=)
|
rs1597898262
|
|
|
NM_004360.5(CDH1):c.1565+13A>G
|
rs1057522979
|
|
|
NM_004360.5(CDH1):c.1565C>T (p.Thr522Ile)
|
rs863224725
|
|
|
NM_004360.5(CDH1):c.1566-7C>G
|
rs747783435
|
|
|
NM_004360.5(CDH1):c.1566-8C>G
|
rs587780114
|
|
|
NM_004360.5(CDH1):c.1572G>C (p.Arg524=)
|
rs771419468
|
|
|
NM_004360.5(CDH1):c.1585A>G (p.Thr529Ala)
|
rs776890776
|
|
|
NM_004360.5(CDH1):c.1680G>A (p.Thr560=)
|
rs35741240
|
|
|
NM_004360.5(CDH1):c.1708A>G (p.Asn570Asp)
|
rs1567510854
|
|
|
NM_004360.5(CDH1):c.1711+9G>C
|
rs368770384
|
|
|
NM_004360.5(CDH1):c.1712-8T>C
|
rs1060504172
|
|
|
NM_004360.5(CDH1):c.1716T>C (p.Ser572=)
|
rs876660176
|
|
|
NM_004360.5(CDH1):c.1767T>C (p.Asn589=)
|
rs763862527
|
|
|
NM_004360.5(CDH1):c.177T>G (p.Asp59Glu)
|
rs587780116
|
|
|
NM_004360.5(CDH1):c.1887A>G (p.Glu629=)
|
rs886052236
|
|
|
NM_004360.5(CDH1):c.1917C>T (p.Thr639=)
|
rs1057522719
|
|
|
NM_004360.5(CDH1):c.1936+4G>A
|
rs864622365
|
|
|
NM_004360.5(CDH1):c.1937-4C>G
|
rs1057523153
|
|
|
NM_004360.5(CDH1):c.1937-4C>T
|
rs1057523153
|
|
|
NM_004360.5(CDH1):c.2076_2077inv (p.Gly693Ser)
|
|
|
|
NM_004360.5(CDH1):c.2080G>A (p.Val694Ile)
|
rs587780118
|
|
|
NM_004360.5(CDH1):c.2205G>A (p.Ala735=)
|
rs138493551
|
|
|
NM_004360.5(CDH1):c.2282_2284del (p.Gly761del)
|
rs878854683
|
|
|
NM_004360.5(CDH1):c.2286A>G (p.Glu762=)
|
rs1555517684
|
|
|
NM_004360.5(CDH1):c.2296-4A>G
|
|
|
|
NM_004360.5(CDH1):c.2343A>G (p.Glu781=)
|
rs587780119
|
|
|
NM_004360.5(CDH1):c.2374A>C (p.Met792Leu)
|
rs759380419
|
|
|
NM_004360.5(CDH1):c.2440-12CTT[2]
|
rs587782757
|
|
|
NM_004360.5(CDH1):c.249T>C (p.Ile83=)
|
rs878854687
|
|
|
NM_004360.5(CDH1):c.2544G>C (p.Leu848=)
|
rs2152144040
|
|
|
NM_004360.5(CDH1):c.2602C>T (p.Arg868Cys)
|
rs864622630
|
|
|
NM_004360.5(CDH1):c.2628C>T (p.Tyr876=)
|
rs778681919
|
|
|
NM_004360.5(CDH1):c.2640G>A (p.Glu880=)
|
rs864622218
|
|
|
NM_004360.5(CDH1):c.268C>T (p.Arg90Trp)
|
rs730881661
|
|
|
NM_004360.5(CDH1):c.32TGC[4] (p.Leu15del)
|
rs587782476
|
|
|
NM_004360.5(CDH1):c.32TGC[6] (p.Leu15dup)
|
rs587782476
|
|
|
NM_004360.5(CDH1):c.32TGC[7] (p.Leu14_Leu15dup)
|
rs587782476
|
|
|
NM_004360.5(CDH1):c.375C>T (p.Pro125=)
|
rs773044699
|
|
|
NM_004360.5(CDH1):c.388-3T>C
|
rs112139520
|
|
|
NM_004360.5(CDH1):c.408A>G (p.Gln136=)
|
rs1060501229
|
|
|
NM_004360.5(CDH1):c.409G>A (p.Ala137Thr)
|
rs876658797
|
|
|
NM_004360.5(CDH1):c.48+5_48+6delinsAT
|
rs1555509656
|
|
|
NM_004360.5(CDH1):c.48+5_48+6delinsGT
|
rs1555509656
|
|
|
NM_004360.5(CDH1):c.488G>C (p.Cys163Ser)
|
rs748783182
|
|
|
NM_004360.5(CDH1):c.49-16C>G
|
rs1057517618
|
|
|
NM_004360.5(CDH1):c.49-8C>T
|
rs774761552
|
|
|
NM_004360.5(CDH1):c.49-9C>A
|
rs1555509752
|
|
|
NM_004360.5(CDH1):c.531+17T>C
|
rs1057520562
|
|
|
NM_004360.5(CDH1):c.671G>T (p.Arg224Leu)
|
rs201511530
|
|
|
NM_004360.5(CDH1):c.69G>A (p.Gln23=)
|
rs786202657
|
|
|
NM_004360.5(CDH1):c.719A>G (p.Asn240Ser)
|
rs587780788
|
|
|
NM_004360.5(CDH1):c.820G>A (p.Gly274Ser)
|
rs781513008
|
|
|
NM_004360.5(CDH1):c.834A>G (p.Gly278=)
|
rs1597893922
|
|
|
NM_004360.5(CDH1):c.871G>A (p.Asp291Asn)
|
rs876660645
|
|
|
NM_004360.5(CDH1):c.924T>C (p.Asp308=)
|
rs1555515629
|
|
|
NM_004369.4(COL6A3):c.1630C>T (p.Arg544Trp)
|
|
|
|
NM_004369.4(COL6A3):c.2729C>T (p.Thr910Met)
|
rs189356869
|
|
|
NM_004369.4(COL6A3):c.3852C>T (p.Phe1284=)
|
rs148561729
|
|
|
NM_004369.4(COL6A3):c.3982C>T (p.Leu1328=)
|
rs727503885
|
|
|
NM_004369.4(COL6A3):c.4011G>A (p.Pro1337=)
|
rs114498197
|
|
|
NM_004369.4(COL6A3):c.4510C>A (p.Arg1504=)
|
rs144223596
|
|
|
NM_004369.4(COL6A3):c.576G>T (p.Pro192=)
|
rs141560881
|
|
|
NM_004369.4(COL6A3):c.7645C>A (p.Arg2549=)
|
rs151079701
|
|
|
NM_004369.4(COL6A3):c.7983C>T (p.Phe2661=)
|
rs375222168
|
|
|
NM_004370.6(COL12A1):c.1694G>A (p.Arg565Lys)
|
|
|
|
NM_004370.6(COL12A1):c.1897G>T (p.Val633Phe)
|
rs200315815
|
|
|
NM_004370.6(COL12A1):c.3161G>A (p.Arg1054Gln)
|
rs577784031
|
|
|
NM_004370.6(COL12A1):c.4564C>T (p.Arg1522Cys)
|
rs574863380
|
|
|
NM_004370.6(COL12A1):c.4679G>A (p.Arg1560Gln)
|
|
|
|
NM_004370.6(COL12A1):c.5207A>G (p.Asp1736Gly)
|
rs762021815
|
|
|
NM_004370.6(COL12A1):c.5467G>A (p.Val1823Ile)
|
rs201408175
|
|
|
NM_004370.6(COL12A1):c.6125C>T (p.Ser2042Leu)
|
|
|
|
NM_004370.6(COL12A1):c.634T>C (p.Tyr212His)
|
rs1424010902
|
|
|
NM_004371.4(COPA):c.3248G>A (p.Arg1083His)
|
rs141211632
|
|
|
NM_004380.3(CREBBP):c.1217-7G>A
|
rs2053519519
|
|
|
NM_004380.3(CREBBP):c.1331-12_1331-9del
|
rs765955245
|
|
|
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg)
|
rs147805823
|
|
|
NM_004380.3(CREBBP):c.2355_2366del (p.Ala787_Gln790del)
|
rs755265819
|
|
|
NM_004380.3(CREBBP):c.258A>G (p.Ile86Met)
|
rs2054819160
|
|
|
NM_004380.3(CREBBP):c.283G>A (p.Val95Met)
|
rs756802946
|
|
|
NM_004380.3(CREBBP):c.3205G>T (p.Gly1069Cys)
|
rs555109138
|
|
|
NM_004380.3(CREBBP):c.3232T>C (p.Ser1078Pro)
|
|
|
|
NM_004380.3(CREBBP):c.3250+4G>A
|
|
|
|
NM_004380.3(CREBBP):c.3889C>T (p.His1297Tyr)
|
rs1057521558
|
|
|
NM_004380.3(CREBBP):c.6384_6401del (p.Gln2128_Met2133del)
|
rs772003652
|
|
|
NM_004380.3(CREBBP):c.6594GCA[2] (p.Gln2214_Gln2216del)
|
rs746121736
|
|
|
NM_004380.3(CREBBP):c.6624_6635del (p.Gln2213_Gln2216del)
|
rs763108828
|
|
|
NM_004380.3(CREBBP):c.6666_6677del (p.2220_2223GMAG[1])
|
rs778220523
|
|
|
NM_004380.3(CREBBP):c.712G>A (p.Val238Met)
|
rs146887252
|
|
|
NM_004385.5(VCAN):c.1458G>T (p.Ser486=)
|
rs150735474
|
|
|
NM_004385.5(VCAN):c.6902T>G (p.Phe2301Cys)
|
rs160278
|
|
|
NM_004387.4(NKX2-5):c.627GCC[6] (p.Pro214dup)
|
rs746833511
|
|
|
NM_004403.3(GSDME):c.119dup (p.Lys41fs)
|
rs758488919
|
|
|
NM_004408.4(DNM1):c.1153C>T (p.Arg385Ter)
|
rs1835102166
|
|
|
NM_004415.4(DSP):c.1067C>T (p.Thr356Met)
|
rs780626687
|
|
|
NM_004415.4(DSP):c.1266+6G>A
|
rs73375345
|
|
|
NM_004415.4(DSP):c.157T>G (p.Ser53Ala)
|
rs397516918
|
|
|
NM_004415.4(DSP):c.178G>A (p.Gly60Ser)
|
rs982933033
|
|
|
NM_004415.4(DSP):c.2075C>T (p.Pro692Leu)
|
rs1561690890
|
|
|
NM_004415.4(DSP):c.2441T>C (p.Ile814Thr)
|
rs1393048121
|
|
|
NM_004415.4(DSP):c.2794-7T>C
|
rs397516926
|
|
|
NM_004415.4(DSP):c.2932A>G (p.Ile978Val)
|
rs780823789
|
|
|
NM_004415.4(DSP):c.3005G>C (p.Arg1002Pro)
|
rs371234425
|
|
|
NM_004415.4(DSP):c.3325G>A (p.Glu1109Lys)
|
rs367763339
|
|
|
NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln)
|
rs876657795
|
|
|
NM_004415.4(DSP):c.3956C>G (p.Thr1319Ser)
|
rs138599871
|
|
|
NM_004415.4(DSP):c.3956C>T (p.Thr1319Ile)
|
rs138599871
|
|
|
NM_004415.4(DSP):c.4558A>G (p.Ser1520Gly)
|
rs780953141
|
|
|
NM_004415.4(DSP):c.47G>C (p.Arg16Pro)
|
rs752387234
|
|
|
NM_004415.4(DSP):c.484C>G (p.Arg162Gly)
|
rs760711308
|
|
|
NM_004415.4(DSP):c.485G>A (p.Arg162His)
|
rs397516944
|
|
|
NM_004415.4(DSP):c.5064G>A (p.Ala1688=)
|
rs886061747
|
|
|
NM_004415.4(DSP):c.5391G>A (p.Arg1797=)
|
rs778745098
|
|
|
NM_004415.4(DSP):c.5544G>A (p.Arg1848=)
|
rs727503004
|
|
|
NM_004415.4(DSP):c.5798C>G (p.Ser1933Cys)
|
|
|
|
NM_004415.4(DSP):c.6055G>A (p.Ala2019Thr)
|
rs771974957
|
|
|
NM_004415.4(DSP):c.6187C>T (p.Arg2063Trp)
|
rs374090050
|
|
|
NM_004415.4(DSP):c.6526G>A (p.Val2176Ile)
|
rs746533703
|
|
|
NM_004415.4(DSP):c.6572G>A (p.Arg2191Lys)
|
rs527888978
|
|
|
NM_004415.4(DSP):c.685G>A (p.Gly229Ser)
|
rs376185352
|
|
|
NM_004415.4(DSP):c.694C>T (p.Arg232Cys)
|
rs777847026
|
|
|
NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn)
|
rs199597935
|
|
|
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del)
|
rs397516962
|
|
|
NM_004415.4(DSP):c.8199G>A (p.Thr2733=)
|
rs145085696
|
|
|
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[1] (p.2827SGSR[4])
|
rs397516971
|
|
|
NM_004415.4(DSP):c.8508_8517delinsGTCCCGCAGT (p.Gly2836_Ser2839=)
|
rs1561706189
|
|
|
NM_004415.4(DSP):c.8529_8540del (p.2827_2830SGSR[4])
|
rs794728151
|
|
|
NM_004431.5(EPHA2):c.1582+6T>C
|
|
|
|
NM_004434.3(EML1):c.1225C>G (p.Gln409Glu)
|
|
|
|
NM_004444.5(EPHB4):c.1151G>A (p.Arg384Gln)
|
|
|
|
NM_004444.5(EPHB4):c.1625C>T (p.Ala542Val)
|
|
|
|
NM_004444.5(EPHB4):c.187G>C (p.Val63Leu)
|
|
|
|
NM_004444.5(EPHB4):c.2257G>A (p.Val753Ile)
|
|
|
|
NM_004444.5(EPHB4):c.242G>A (p.Arg81Gln)
|
|
|
|
NM_004444.5(EPHB4):c.272G>A (p.Arg91His)
|
|
|
|
NM_004444.5(EPHB4):c.419C>T (p.Thr140Met)
|
|
|
|
NM_004444.5(EPHB4):c.624G>A (p.Pro208=)
|
|
|
|
NM_004444.5(EPHB4):c.965-3C>T
|
|
|
|
NM_004444.5(EPHB4):c.998G>A (p.Arg333His)
|
|
|
|
NM_004448.4(ERBB2):c.3470T>G (p.Leu1157Arg)
|
|
|
|
NM_004453.4(ETFDH):c.1116+7C>T
|
rs748640706
|
|
|
NM_004453.4(ETFDH):c.1117-11T>C
|
rs917132143
|
|
|
NM_004453.4(ETFDH):c.1278G>A (p.Lys426=)
|
rs1284823413
|
|
|
NM_004453.4(ETFDH):c.1449G>A (p.Pro483=)
|
rs143873407
|
|
|
NM_004453.4(ETFDH):c.1469-8T>C
|
rs1774625470
|
|
|
NM_004453.4(ETFDH):c.1555T>C (p.Leu519=)
|
rs533097197
|
|
|
NM_004453.4(ETFDH):c.606+10GTTTT[2]
|
rs745580994
|
|
|
NM_004453.4(ETFDH):c.63T>C (p.Ile21=)
|
rs566605780
|
|
|
NM_004481.5(GALNT2):c.816C>T (p.Gly272=)
|
|
|
|
NM_004517.4(ILK):c.458A>G (p.Glu153Gly)
|
rs867451051
|
|
|
NM_004519.4(KCNQ3):c.-141_-139dup
|
rs879019805
|
|
|
NM_004519.4(KCNQ3):c.1809A>G (p.Pro603=)
|
rs886062691
|
|
|
NM_004519.4(KCNQ3):c.1995G>T (p.Ser665=)
|
rs759776061
|
|
|
NM_004525.3(LRP2):c.11568G>A (p.Pro3856=)
|
rs745949029
|
|
|
NM_004525.3(LRP2):c.12125G>A (p.Arg4042His)
|
rs199874294
|
|
|
NM_004525.3(LRP2):c.169G>T (p.Ala57Ser)
|
rs147295930
|
|
|
NM_004525.3(LRP2):c.1773-3C>T
|
|
|
|
NM_004525.3(LRP2):c.3932G>A (p.Arg1311His)
|
rs140748929
|
|
|
NM_004525.3(LRP2):c.5648+7A>C
|
rs775694684
|
|
|
NM_004525.3(LRP2):c.6470-4A>G
|
|
|
|
NM_004525.3(LRP2):c.770-4dup
|
|
|
|
NM_004526.4(MCM2):c.2485_2487del (p.Asn829del)
|
|
|
|
NM_004526.4(MCM2):c.490_498dup (p.Asp164_Glu166dup)
|
rs749079722
|
|
|
NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu)
|
rs41277835
|
|
|
NM_004560.4(ROR2):c.623-11G>A
|
rs1350375399
|
|
|
NM_004562.3(PRKN):c.245C>A (p.Ala82Glu)
|
rs55774500
|
|
|
NM_004563.4(PCK2):c.1469-6C>G
|
|
|
|
NM_004565.3(PEX14):c.299-8G>A
|
rs112851814
|
|
|
NM_004565.3(PEX14):c.48T>C (p.Thr16=)
|
rs779545665
|
|
|
NM_004568.6(SERPINB6):c.441G>A (p.Ala147=)
|
rs201913568
|
|
|
NM_004588.5(SCN2B):c.578C>G (p.Thr193Arg)
|
rs115353159
|
|
|
NM_004588.5(SCN2B):c.625_626delinsCC (p.Asn209Pro)
|
rs1064796044
|
|
|
NM_004589.4(SCO1):c.16C>G (p.Leu6Val)
|
rs61753148
|
|
|
NM_004589.4(SCO1):c.26G>T (p.Gly9Val)
|
rs751482122
|
|
|
NM_004589.4(SCO1):c.342C>A (p.His114Gln)
|
rs142330047
|
|
|
NM_004606.5(TAF1):c.2945C>T (p.Pro982Leu)
|
|
|
|
NM_004612.4(TGFBR1):c.1131-8T>G
|
rs1827799094
|
|
|
NM_004612.4(TGFBR1):c.1387-4G>A
|
rs397517031
|
|
|
NM_004612.4(TGFBR1):c.1387-4G>C
|
|
|
|
NM_004612.4(TGFBR1):c.52GCG[10] (p.Ala26dup)
|
rs11466445
|
|
|
NM_004612.4(TGFBR1):c.52GCG[11] (p.Ala25_Ala26dup)
|
rs11466445
|
|
|
NM_004612.4(TGFBR1):c.52GCG[12] (p.Ala24_Ala26dup)
|
rs11466445
|
|
|
NM_004612.4(TGFBR1):c.52GCG[4] (p.Ala22_Ala26del)
|
rs11466445
|
|
|
NM_004612.4(TGFBR1):c.52GCG[5] (p.Ala23_Ala26del)
|
rs11466445
|
|
|
NM_004612.4(TGFBR1):c.574+7_574+8del
|
|
|
|
NM_004612.4(TGFBR1):c.828C>G (p.Leu276=)
|
rs886063224
|
|
|
NM_004612.4(TGFBR1):c.97+15GGCG[4]
|
rs886063221
|
|
|
NM_004614.5(TK2):c.514A>G (p.Met172Val)
|
rs1057520686
|
|
|
NM_004614.5(TK2):c.520G>C (p.Val174Leu)
|
rs149036717
|
|
|
NM_004614.5(TK2):c.55C>T (p.Pro19Ser)
|
rs551565600
|
|
|
NM_004618.5(TOP3A):c.1103A>G (p.Asn368Ser)
|
|
|
|
NM_004628.5(XPC):c.1185G>A (p.Lys395=)
|
rs886058051
|
|
|
NM_004629.2(FANCG):c.1157C>G (p.Pro386Arg)
|
rs141147618
|
|
|
NM_004629.2(FANCG):c.511-6dup
|
rs376732298
|
|
|
NM_004629.2(FANCG):c.957G>A (p.Pro319=)
|
rs145092954
|
|
|
NM_004646.4(NPHS1):c.1913A>G (p.Tyr638Cys)
|
|
|
|
NM_004646.4(NPHS1):c.2072-5C>T
|
rs1973103431
|
|
|
NM_004646.4(NPHS1):c.2746G>T (p.Ala916Ser)
|
rs138173172
|
|
|
NM_004646.4(NPHS1):c.3456G>T (p.Thr1152=)
|
rs138092189
|
|
|
NM_004646.4(NPHS1):c.791C>A (p.Pro264Gln)
|
rs34982899
|
|
|
NM_004646.4(NPHS1):c.796G>A (p.Val266Met)
|
|
|
|
NM_004655.4(AXIN2):c.1347C>T (p.Thr449=)
|
rs762279806
|
|
|
NM_004655.4(AXIN2):c.1404CCA[5] (p.His474del)
|
rs570443161
|
|
|
NM_004655.4(AXIN2):c.1404CCA[7] (p.His474dup)
|
rs570443161
|
|
|
NM_004655.4(AXIN2):c.1443C>T (p.Leu481=)
|
rs886053272
|
|
|
NM_004655.4(AXIN2):c.1743C>T (p.Arg581=)
|
rs774932064
|
|
|
NM_004655.4(AXIN2):c.174C>T (p.Asn58=)
|
rs763012548
|
|
|
NM_004655.4(AXIN2):c.1927G>C (p.Ala643Pro)
|
rs748005374
|
|
|
NM_004655.4(AXIN2):c.1952C>G (p.Ser651Trp)
|
rs74006838
|
|
|
NM_004655.4(AXIN2):c.2012G>C (p.Arg671Pro)
|
rs765845684
|
|
|
NM_004655.4(AXIN2):c.2091G>A (p.Leu697=)
|
rs2043915103
|
|
|
NM_004655.4(AXIN2):c.2124G>A (p.Ser708=)
|
rs143243661
|
|
|
NM_004655.4(AXIN2):c.2405+4A>C
|
rs377423720
|
|
|
NM_004655.4(AXIN2):c.339C>T (p.Ala113=)
|
rs1598119867
|
|
|
NM_004655.4(AXIN2):c.629T>C (p.Met210Thr)
|
rs529954883
|
|
|
NM_004656.4(BAP1):c.1217A>C (p.Glu406Ala)
|
rs535695655
|
|
|
NM_004656.4(BAP1):c.1337A>G (p.Asn446Ser)
|
rs751399960
|
|
|
NM_004656.4(BAP1):c.1554G>T (p.Arg518=)
|
rs1705043802
|
|
|
NM_004656.4(BAP1):c.1806G>C (p.Glu602Asp)
|
rs759423683
|
|
|
NM_004656.4(BAP1):c.1857C>T (p.Gly619=)
|
rs116604051
|
|
|
NM_004656.4(BAP1):c.1887C>T (p.Pro629=)
|
rs1253470807
|
|
|
NM_004656.4(BAP1):c.1947C>T (p.Cys649=)
|
rs1041287605
|
|
|
NM_004656.4(BAP1):c.783+11T>C
|
rs1705153387
|
|
|
NM_004656.4(BAP1):c.821A>C (p.His274Pro)
|
rs565400314
|
|
|
NM_004656.4(BAP1):c.908C>T (p.Ala303Val)
|
rs753460994
|
|
|
NM_004656.4(BAP1):c.961G>A (p.Ala321Thr)
|
rs143891879
|
|
|
NM_004700.4(KCNQ4):c.1322G>A (p.Arg441His)
|
|
|
|
NM_004700.4(KCNQ4):c.191_202dup (p.62_63GS[5])
|
rs781081834
|
|
|
NM_004706.4(ARHGEF1):c.1094G>A (p.Ser365Asn)
|
rs199751095
|
|
|
NM_004714.3(DYRK1B):c.63+4C>T
|
|
|
|
NM_004714.3(DYRK1B):c.668C>T (p.Thr223Met)
|
|
|
|
NM_004715.5(CTDP1):c.1728GGA[6] (p.Glu582del)
|
rs3833180
|
|
|
NM_004715.5(CTDP1):c.2307C>T (p.Pro769=)
|
rs1403055370
|
|
|
NM_004715.5(CTDP1):c.864-3T>C
|
|
|
|
NM_004727.3(SLC24A1):c.3050+3G>A
|
|
|
|
NM_004738.5(VAPB):c.476CTT[1] (p.Ser160del)
|
rs566283411
|
|
|
NM_004738.5(VAPB):c.656G>T (p.Gly219Val)
|
rs786205553
|
|
|
NM_004787.4(SLIT2):c.2142C>T (p.Asp714=)
|
|
|
|
NM_004793.4(LONP1):c.2154+3G>A
|
|
|
|
NM_004795.4(KL):c.2296G>A (p.Gly766Ser)
|
rs114752661
|
|
|
NM_004817.4(TJP2):c.2027G>C (p.Arg676Thr)
|
|
|
|
NM_004817.4(TJP2):c.258C>T (p.Val86=)
|
rs530810462
|
|
|
NM_004817.4(TJP2):c.3408-6del
|
rs778863371
|
|
|
NM_004817.4(TJP2):c.3408-6dup
|
rs778863371
|
|
|
NM_004817.4(TJP2):c.395C>G (p.Pro132Arg)
|
rs141496493
|
|
|
NM_004817.4(TJP2):c.850AGCCGC[3] (p.284SR[3])
|
rs760152519
|
|
|
NM_004820.5(CYP7B1):c.59C>T (p.Pro20Leu)
|
rs537303950
|
|
|
NM_004820.5(CYP7B1):c.924T>G (p.Leu308=)
|
rs754533279
|
|
|
NM_004820.5(CYP7B1):c.957T>C (p.Arg319=)
|
rs886063073
|
|
|
NM_004820.5(CYP7B1):c.963A>G (p.Glu321=)
|
rs1045912447
|
|
|
NM_004826.4(ECEL1):c.2105G>T (p.Arg702Leu)
|
rs117012322
|
|
|
NM_004859.4(CLTC):c.88C>T (p.Leu30=)
|
|
|
|
NM_004924.6(ACTN4):c.2577+6C>T
|
|
|
|
NM_004937.3(CTNS):c.1029C>A (p.Ile343=)
|
rs147428183
|
|
|
NM_004937.3(CTNS):c.1082C>T (p.Pro361Leu)
|
rs560868487
|
|
|
NM_004947.5(DOCK3):c.5341TTG[1] (p.Leu1783del)
|
|
|
|
NM_004958.4(MTOR):c.1226A>T (p.Asp409Val)
|
|
|
|
NM_004958.4(MTOR):c.1413-3_1413-2del
|
rs780487698
|
|
|
NM_004958.4(MTOR):c.1713_1715del (p.Thr572del)
|
rs1228888866
|
|
|
NM_004958.4(MTOR):c.3238C>T (p.Arg1080Cys)
|
|
|
|
NM_004958.4(MTOR):c.4687-3T>C
|
rs760066667
|
|
|
NM_004958.4(MTOR):c.4770G>A (p.Met1590Ile)
|
rs1386078325
|
|
|
NM_004958.4(MTOR):c.5485_5505dup (p.Thr1829_Ala1835dup)
|
rs1643098054
|
|
|
NM_004958.4(MTOR):c.5502_5519dup (p.Ala1835_Thr1840dup)
|
rs770515802
|
|
|
NM_004958.4(MTOR):c.7017-4A>G
|
|
|
|
NM_004960.3(FUS):c.515_523+3del
|
|
|
|
NM_004960.4(FUS):c.*132C>A
|
rs565540429
|
|
|
NM_004960.4(FUS):c.669CGG[3] (p.Gly229_Gly231del)
|
rs72550890
|
|
|
NM_004960.4(FUS):c.684_692del (p.Gly229_Gly231del)
|
rs778398729
|
|
|
NM_004972.4(JAK2):c.2696T>C (p.Ile899Thr)
|
|
|
|
NM_004975.4(KCNB1):c.1343T>C (p.Met448Thr)
|
rs1984239884
|
|
|
NM_004975.4(KCNB1):c.2129G>A (p.Cys710Tyr)
|
|
|
|
NM_004975.4(KCNB1):c.2324C>G (p.Pro775Arg)
|
rs530927636
|
|
|
NM_004975.4(KCNB1):c.372C>T (p.Ile124=)
|
rs147498424
|
|
|
NM_004977.3(KCNC3):c.1883C>T (p.Ala628Val)
|
|
|
|
NM_004982.4(KCNJ8):c.471G>C (p.Thr157=)
|
rs143319002
|
|
|
NM_004984.4(KIF5A):c.1191C>T (p.Thr397=)
|
rs1064797169
|
|
|
NM_004984.4(KIF5A):c.1362+7G>A
|
rs1349376862
|
|
|
NM_004984.4(KIF5A):c.1603C>T (p.Arg535Trp)
|
rs1055742325
|
|
|
NM_004984.4(KIF5A):c.1717-6C>T
|
rs61935711
|
|
|
NM_004984.4(KIF5A):c.2053A>G (p.Lys685Glu)
|
|
|
|
NM_004984.4(KIF5A):c.2065A>G (p.Thr689Ala)
|
|
|
|
NM_004984.4(KIF5A):c.2816G>A (p.Arg939Gln)
|
|
|
|
NM_004984.4(KIF5A):c.2957C>G (p.Pro986Arg)
|
rs113247976
|
|
|
NM_004985.5(KRAS):c.291-10del
|
rs727503991
|
|
|
NM_004985.5(KRAS):c.451-5604T>C
|
rs397517476
|
|
|
NM_004990.4(MARS1):c.212del (p.Leu71fs)
|
rs751080704
|
|
|
NM_004991.4(MECOM):c.2489+6C>T
|
|
|
|
NM_004991.4(MECOM):c.3013A>G (p.Met1005Val)
|
|
|
|
NM_004991.4(MECOM):c.3116T>C (p.Ile1039Thr)
|
|
|
|
NM_004991.4(MECOM):c.3383G>A (p.Cys1128Tyr)
|
|
|
|
NM_004998.4(MYO1E):c.2627C>G (p.Thr876Arg)
|
rs147596471
|
|
|
NM_004999.4(MYO6):c.2898AGA[3] (p.Glu970del)
|
rs727504743
|
|
|
NM_005006.7(NDUFS1):c.738-20A>T
|
rs200128097
|
|
|
NM_005045.4(RELN):c.-24GGC[15] (p.Met1_Glu2insGlyGlyGlyGlyGlyGlyGly)
|
rs55656324
|
|
|
NM_005045.4(RELN):c.-24GGC[6]
|
rs55656324
|
|
|
NM_005045.4(RELN):c.-24GGC[9] (p.Met1_Glu2insGly)
|
rs55656324
|
|
|
NM_005045.4(RELN):c.1379A>C (p.Lys460Thr)
|
rs779530655
|
|
|
NM_005045.4(RELN):c.5211-7dup
|
rs34125550
|
|
|
NM_005045.4(RELN):c.5211-8_5211-7dup
|
rs34125550
|
|
|
NM_005045.4(RELN):c.5360G>A (p.Arg1787Gln)
|
rs372887562
|
|
|
NM_005045.4(RELN):c.6976G>A (p.Asp2326Asn)
|
rs768054802
|
|
|
NM_005045.4(RELN):c.8077G>A (p.Gly2693Arg)
|
|
|
|
NM_005045.4(RELN):c.8213G>A (p.Arg2738Gln)
|
rs141115137
|
|
|
NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del)
|
rs762015967
|
|
|
NM_005045.4(RELN):c.9628C>G (p.Gln3210Glu)
|
|
|
|
NM_005045.4(RELN):c.9730G>C (p.Gly3244Arg)
|
rs73714410
|
|
|
NM_005050.4(ABCD4):c.1316C>T (p.Thr439Met)
|
rs200761248
|
|
|
NM_005051.3(QARS1):c.632-10dup
|
rs775642346
|
|
|
NM_005076.5(CNTN2):c.1975+10A>G
|
rs773175563
|
|
|
NM_005097.4(LGI1):c.297A>G (p.Thr99=)
|
rs777027658
|
|
|
NM_005120.3(MED12):c.6150GCA[4] (p.Gln2075_Gln2076del)
|
rs769857818
|
|
|
NM_005120.3(MED12):c.6208CAG[9] (p.Gln2075_Gln2076dup)
|
rs757160341
|
|
|
NM_005120.3(MED12):c.6241CAG[7] (p.Gln2086dup)
|
rs786200971
|
|
|
NM_005120.3(MED12):c.6279ACAGCA[3] (p.Gln2114_Gln2115dup)
|
rs761195801
|
|
|
NM_005120.3(MED12):c.6288GCA[10] (p.Gln2113_Gln2115dup)
|
rs766775649
|
|
|
NM_005120.3(MED12):c.6288GCA[5] (p.Gln2114_Gln2115del)
|
rs766775649
|
|
|
NM_005120.3(MED12):c.6288GCA[9] (p.Gln2114_Gln2115dup)
|
rs766775649
|
|
|
NM_005120.3(MED12):c.6336_6362del (p.Gln2115_Gln2123del)
|
rs1353930135
|
|
|
NM_005142.3(CBLIF):c.138G>A (p.Ser46=)
|
rs200472519
|
|
|
NM_005148.4(UNC119):c.231C>T (p.Cys77=)
|
rs1037207765
|
|
|
NM_005157.6(ABL1):c.1543G>A (p.Val515Ile)
|
|
|
|
NM_005157.6(ABL1):c.3067G>A (p.Ala1023Thr)
|
|
|
|
NM_005159.5(ACTC1):c.1038C>T (p.Ser346=)
|
rs748062476
|
|
|
NM_005159.5(ACTC1):c.809-58TG[17]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[21]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[22]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[24]
|
rs59431308
|
|
|
NM_005159.5(ACTC1):c.809-58TG[26]
|
rs59431308
|
|
|
NM_005186.4(CAPN1):c.1943-4C>A
|
rs377259262
|
|
|
NM_005188.4(CBL):c.107ACC[9] (p.His41_His42dup)
|
rs373212940
|
|
|
NM_005188.4(CBL):c.1296T>C (p.Asp432=)
|
rs1188095865
|
|
|
NM_005188.4(CBL):c.1365T>C (p.Tyr455=)
|
rs749044865
|
|
|
NM_005188.4(CBL):c.2190G>A (p.Thr730=)
|
rs143840974
|
|
|
NM_005198.5(CHKB):c.447+12G>A
|
rs749454476
|
|
|
NM_005198.5(CHKB):c.582-13_582-11del
|
rs766816072
|
|
|
NM_005199.5(CHRNG):c.734TCA[1] (p.Ile246del)
|
rs747062636
|
|
|
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val)
|
rs189809247
|
|
|
NM_005219.5(DIAPH1):c.1821TCC[7] (p.Pro617_Pro620del)
|
rs3075570
|
|
|
NM_005219.5(DIAPH1):c.2030C>A (p.Pro677Gln)
|
rs761912885
|
|
|
NM_005219.5(DIAPH1):c.402+12del
|
rs555848272
|
|
|
NM_005222.4(DLX6):c.102GCA[8] (p.Gln44_Pro45insGln)
|
|
|
|
NM_005222.4(DLX6):c.75GCA[12] (p.Gln44_Pro45insGlnGlnGlnGln)
|
|
|
|
NM_005222.4(DLX6):c.75GCA[9] (p.Gln44dup)
|
rs530625473
|
|
|
NM_005222.4(DLX6):c.81GCAGCAGCAGCAGCAGCAACAGCA[3] (p.Gln37_Gln44dup)
|
rs775320932
|
|
|
NM_005228.5(EGFR):c.2652A>G (p.Glu884=)
|
rs1787457978
|
|
|
NM_005228.5(EGFR):c.3245T>G (p.Ile1082Arg)
|
rs1051476261
|
|
|
NM_005245.4(FAT1):c.10424C>G (p.Pro3475Arg)
|
|
|
|
NM_005245.4(FAT1):c.12421C>G (p.Leu4141Val)
|
|
|
|
NM_005245.4(FAT1):c.1714A>G (p.Ile572Val)
|
|
|
|
NM_005245.4(FAT1):c.3217A>G (p.Ile1073Val)
|
|
|
|
NM_005245.4(FAT1):c.4434C>G (p.Ile1478Met)
|
|
|
|
NM_005245.4(FAT1):c.6122G>A (p.Arg2041His)
|
|
|
|
NM_005245.4(FAT1):c.675G>A (p.Ala225=)
|
|
|
|
NM_005245.4(FAT1):c.7957G>A (p.Gly2653Ser)
|
|
|
|
NM_005245.4(FAT1):c.8524G>A (p.Gly2842Ser)
|
|
|
|
NM_005247.4(FGF3):c.484C>A (p.Arg162=)
|
|
|
|
NM_005249.5(FOXG1):c.1123G>A (p.Ala375Thr)
|
rs1594384127
|
|
|
NM_005249.5(FOXG1):c.209AGC[5] (p.Gln73dup)
|
rs398124201
|
|
|
NM_005249.5(FOXG1):c.209_235del (p.Gln70_Pro78del)
|
rs587783634
|
|
|
NM_005249.5(FOXG1):c.219GCC[7] (p.Pro80dup)
|
rs786200975
|
|
|
NM_005262.3(GFER):c.216G>A (p.Arg72=)
|
rs755279097
|
|
|
NM_005262.3(GFER):c.591C>G (p.Asp197Glu)
|
rs28738719
|
|
|
NM_005263.5(GFI1):c.925-40CT[26]
|
rs35896485
|
|
|
NM_005271.5(GLUD1):c.1403-11dup
|
rs550609501
|
|
|
NM_005271.5(GLUD1):c.1557+12G>A
|
rs201872390
|
|
|
NM_005276.4(GPD1):c.361G>A (p.Gly121Arg)
|
rs35428353
|
|
|
NM_005276.4(GPD1):c.380A>G (p.Asn127Ser)
|
rs111241046
|
|
|
NM_005327.7(HADH):c.264C>T (p.Ala88=)
|
rs201324954
|
|
|
NM_005327.7(HADH):c.291G>T (p.Leu97=)
|
rs552317372
|
|
|
NM_005333.5(HCCS):c.704A>G (p.Asn235Ser)
|
|
|
|
NM_005334.3(HCFC1):c.2972C>G (p.Thr991Ser)
|
|
|
|
NM_005334.3(HCFC1):c.939A>G (p.Thr313=)
|
|
|
|
NM_005337.5(NCKAP1L):c.1171A>G (p.Thr391Ala)
|
|
|
|
NM_005337.5(NCKAP1L):c.3043C>T (p.Pro1015Ser)
|
|
|
|
NM_005337.5(NCKAP1L):c.455G>A (p.Arg152Gln)
|
|
|
|
NM_005343.4(HRAS):c.102C>G (p.Pro34=)
|
rs149199691
|
|
|
NM_005343.4(HRAS):c.21G>C (p.Val7=)
|
|
|
|
NM_005343.4(HRAS):c.386A>G (p.Gln129Arg)
|
rs1851242529
|
|
|
NM_005359.6(SMAD4):c.1140-10del
|
rs763877987
|
|
|
NM_005359.6(SMAD4):c.1447+9G>A
|
rs878854766
|
|
|
NM_005359.6(SMAD4):c.455-8C>T
|
rs1057520412
|
|
|
NM_005359.6(SMAD4):c.479A>G (p.Asp160Gly)
|
rs1555685629
|
|
|
NM_005359.6(SMAD4):c.746_747delinsCC (p.Gln249Pro)
|
rs587782209
|
|
|
NM_005359.6(SMAD4):c.756A>G (p.Gly252=)
|
rs1244121412
|
|
|
NM_005360.5(MAF):c.678CGG[9] (p.Gly238dup)
|
rs887468453
|
|
|
NM_005373.3(MPL):c.1063A>G (p.Lys355Glu)
|
rs546510242
|
|
|
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter)
|
rs121909305
|
|
|
NM_005379.4(MYO1A):c.2920G>A (p.Glu974Lys)
|
rs370708976
|
|
|
NM_005379.4(MYO1A):c.3128A>G (p.Gln1043Arg)
|
rs370617353
|
|
|
NM_005422.4(TECTA):c.336T>C (p.Tyr112=)
|
rs886043412
|
|
|
NM_005422.4(TECTA):c.3451G>A (p.Asp1151Asn)
|
|
|
|
NM_005422.4(TECTA):c.4004G>A (p.Gly1335Glu)
|
rs148619105
|
|
|
NM_005422.4(TECTA):c.4009G>A (p.Ala1337Thr)
|
|
|
|
NM_005422.4(TECTA):c.4021G>A (p.Ala1341Thr)
|
|
|
|
NM_005422.4(TECTA):c.4578G>A (p.Gln1526=)
|
|
|
|
NM_005428.4(VAV1):c.927+6C>T
|
|
|
|
NM_005431.2(XRCC2):c.-1G>A
|
rs768232997
|
|
|
NM_005431.2(XRCC2):c.122-3C>T
|
rs730882046
|
|
|
NM_005445.4(SMC3):c.1410-6_1410-3del
|
rs546049291
|
|
|
NM_005445.4(SMC3):c.2056GAA[2] (p.Glu688del)
|
rs755507236
|
|
|
NM_005458.8(GABBR2):c.113G>A (p.Gly38Glu)
|
rs1830934754
|
|
|
NM_005458.8(GABBR2):c.23G>A (p.Gly8Glu)
|
rs950352036
|
|
|
NM_005458.8(GABBR2):c.240C>A (p.Ala80=)
|
|
|
|
NM_005458.8(GABBR2):c.25C>G (p.Gln9Glu)
|
rs1026022583
|
|
|
NM_005458.8(GABBR2):c.2737A>G (p.Ser913Gly)
|
rs1830289381
|
|
|
NM_005458.8(GABBR2):c.33GCC[7] (p.Pro20dup)
|
rs751111546
|
|
|
NM_005458.8(GABBR2):c.422T>C (p.Ile141Thr)
|
rs1588236381
|
|
|
NM_005458.8(GABBR2):c.58C>T (p.Pro20Ser)
|
rs1430262254
|
|
|
NM_005461.5(MAFB):c.888C>G (p.Val296=)
|
|
|
|
NM_005476.7(GNE):c.1660C>T (p.His554Tyr)
|
|
|
|
NM_005476.7(GNE):c.2086G>T (p.Val696Leu)
|
rs121908627
|
|
|
NM_005477.3(HCN4):c.2804C>T (p.Ser935Phe)
|
rs775803239
|
|
|
NM_005477.3(HCN4):c.321C>T (p.Gly107=)
|
rs1555479019
|
|
|
NM_005502.4(ABCA1):c.1312-16C>T
|
|
|
|
NM_005502.4(ABCA1):c.3554A>G (p.Asn1185Ser)
|
rs148328750
|
|
|
NM_005502.4(ABCA1):c.357C>A (p.Asp119Glu)
|
rs763744498
|
|
|
NM_005502.4(ABCA1):c.4559+12C>T
|
|
|
|
NM_005502.4(ABCA1):c.5377G>A (p.Asp1793Asn)
|
|
|
|
NM_005502.4(ABCA1):c.5800G>A (p.Val1934Met)
|
|
|
|
NM_005502.4(ABCA1):c.6205-39del
|
rs572405590
|
|
|
NM_005502.4(ABCA1):c.6309-4G>A
|
rs199562704
|
|
|
NM_005502.4(ABCA1):c.6588G>C (p.Gln2196His)
|
|
|
|
NM_005502.4(ABCA1):c.6701C>T (p.Ser2234Leu)
|
|
|
|
NM_005502.4(ABCA1):c.749C>T (p.Pro250Leu)
|
|
|
|
NM_005505.5(SCARB1):c.126+4G>A
|
|
|
|
NM_005515.4(MNX1):c.375CGC[7] (p.Ala133_Ala134del)
|
rs548755417
|
|
|
NM_005515.4(MNX1):c.576GCACCCCGC[1] (p.193HPA[1])
|
rs528990697
|
|
|
NM_005518.4(HMGCS2):c.621C>T (p.Pro207=)
|
rs886045207
|
|
|
NM_005529.7(HSPG2):c.10151-4G>A
|
|
|
|
NM_005529.7(HSPG2):c.10204G>A (p.Val3402Met)
|
rs150666616
|
|
|
NM_005529.7(HSPG2):c.11983T>C (p.Leu3995=)
|
|
|
|
NM_005529.7(HSPG2):c.12110G>T (p.Arg4037Leu)
|
rs143015575
|
|
|
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu)
|
rs113652076
|
|
|
NM_005529.7(HSPG2):c.3707C>T (p.Ala1236Val)
|
rs113652076
|
|
|
NM_005529.7(HSPG2):c.5925G>A (p.Leu1975=)
|
|
|
|
NM_005529.7(HSPG2):c.6134-4C>T
|
|
|
|
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=)
|
rs150129885
|
|
|
NM_005529.7(HSPG2):c.744_745inv (p.Val249Met)
|
|
|
|
NM_005529.7(HSPG2):c.770G>C (p.Arg257Pro)
|
rs149319607
|
|
|
NM_005529.7(HSPG2):c.8609G>A (p.Arg2870Gln)
|
rs111846397
|
|
|
NM_005529.7(HSPG2):c.8646G>T (p.Gln2882His)
|
rs548583670
|
|
|
NM_005529.7(HSPG2):c.9120C>T (p.Ser3040=)
|
|
|
|
NM_005535.3(IL12RB1):c.1461T>C (p.Asp487=)
|
rs542734526
|
|
|
NM_005535.3(IL12RB1):c.1650C>T (p.Phe550=)
|
rs2034193297
|
|
|
NM_005535.3(IL12RB1):c.732G>T (p.Ser244=)
|
rs145487261
|
|
|
NM_005546.4(ITK):c.150G>A (p.Thr50=)
|
rs61743239
|
|
|
NM_005546.4(ITK):c.396C>T (p.Cys132=)
|
rs1459993484
|
|
|
NM_005557.4(KRT16):c.769G>A (p.Glu257Lys)
|
|
|
|
NM_005559.4(LAMA1):c.6200C>G (p.Ala2067Gly)
|
rs143853128
|
|
|
NM_005559.4(LAMA1):c.7213G>A (p.Asp2405Asn)
|
|
|
|
NM_005560.6(LAMA5):c.10419G>A (p.Pro3473=)
|
|
|
|
NM_005560.6(LAMA5):c.10735-3_10735-2insCCCTTCCTACCCCT
|
rs762469320
|
|
|
NM_005560.6(LAMA5):c.10744C>T (p.Arg3582Trp)
|
|
|
|
NM_005560.6(LAMA5):c.1132C>T (p.Arg378Cys)
|
|
|
|
NM_005560.6(LAMA5):c.2659C>T (p.His887Tyr)
|
|
|
|
NM_005560.6(LAMA5):c.3985G>A (p.Ala1329Thr)
|
|
|
|
NM_005560.6(LAMA5):c.4316G>A (p.Gly1439Asp)
|
|
|
|
NM_005560.6(LAMA5):c.4607A>G (p.Gln1536Arg)
|
|
|
|
NM_005560.6(LAMA5):c.6476G>C (p.Gly2159Ala)
|
|
|
|
NM_005560.6(LAMA5):c.6940C>T (p.Arg2314Trp)
|
|
|
|
NM_005560.6(LAMA5):c.7211G>A (p.Arg2404His)
|
rs144740011
|
|
|
NM_005560.6(LAMA5):c.7416G>A (p.Met2472Ile)
|
|
|
|
NM_005560.6(LAMA5):c.8792+4C>T
|
|
|
|
NM_005560.6(LAMA5):c.9503C>T (p.Pro3168Leu)
|
|
|
|
NM_005560.6(LAMA5):c.9984C>T (p.Cys3328=)
|
|
|
|
NM_005566.4(LDHA):c.843C>T (p.Tyr281=)
|
|
|
|
NM_005573.4(LMNB1):c.359+3G>A
|
rs1187296225
|
|
|
NM_005573.4(LMNB1):c.814-3T>C
|
|
|
|
NM_005591.4(MRE11):c.1326+3A>G
|
rs863224735
|
|
|
NM_005591.4(MRE11):c.154-11C>G
|
rs751354326
|
|
|
NM_005591.4(MRE11):c.1545A>G (p.Glu515=)
|
rs886048759
|
|
|
NM_005591.4(MRE11):c.1811G>A (p.Arg604His)
|
rs148637964
|
|
|
NM_005591.4(MRE11):c.1811G>C (p.Arg604Pro)
|
rs148637964
|
|
|
NM_005591.4(MRE11):c.1868-4C>A
|
rs768257868
|
|
|
NM_005591.4(MRE11):c.1868-5T>C
|
rs773911334
|
|
|
NM_005591.4(MRE11):c.1974C>T (p.Thr658=)
|
rs772019392
|
|
|
NM_005591.4(MRE11):c.19C>T (p.Leu7Phe)
|
rs73517551
|
|
|
NM_005609.4(PYGM):c.1267G>A (p.Val423Ile)
|
|
|
|
NM_005609.4(PYGM):c.1769-7T>C
|
rs2058357396
|
|
|
NM_005609.4(PYGM):c.177C>T (p.Thr59=)
|
rs753355735
|
|
|
NM_005609.4(PYGM):c.2382C>T (p.Asn794=)
|
rs540487525
|
|
|
NM_005609.4(PYGM):c.517G>A (p.Gly173Arg)
|
rs141265458
|
|
|
NM_005609.4(PYGM):c.537G>A (p.Glu179=)
|
rs886048462
|
|
|
NM_005609.4(PYGM):c.999+9C>T
|
rs183026465
|
|
|
NM_005618.4(DLL1):c.1421C>T (p.Thr474Met)
|
|
|
|
NM_005618.4(DLL1):c.1873C>A (p.His625Asn)
|
rs769630735
|
|
|
NM_005618.4(DLL1):c.54+6_54+13del
|
rs781544862
|
|
|
NM_005618.4(DLL1):c.862+6C>A
|
|
|
|
NM_005619.5(RTN2):c.1381-5C>T
|
|
|
|
NM_005629.4(SLC6A8):c.1068C>T (p.Gly356=)
|
rs1603216989
|
|
|
NM_005629.4(SLC6A8):c.778-8C>G
|
rs781860529
|
|
|
NM_005630.3(SLCO2A1):c.1509G>T (p.Lys503Asn)
|
|
|
|
NM_005633.3(SOS1):c.2511-9dup
|
rs727503436
|
|
|
NM_005633.4(SOS1):c.*1694del
|
rs767903412
|
|
|
NM_005633.4(SOS1):c.*3189_*3192del
|
rs572584074
|
|
|
NM_005633.4(SOS1):c.1977T>A (p.Asp659Glu)
|
rs1362181978
|
|
|
NM_005633.4(SOS1):c.1987A>G (p.Ile663Val)
|
rs730881024
|
|
|
NM_005633.4(SOS1):c.1989A>C (p.Ile663=)
|
rs587781172
|
|
|
NM_005633.4(SOS1):c.3322G>C (p.Asp1108His)
|
rs199856844
|
|
|
NM_005633.4(SOS1):c.3601C>T (p.Arg1201Trp)
|
rs752395541
|
|
|
NM_005633.4(SOS1):c.3709C>A (p.Pro1237Thr)
|
rs371408734
|
|
|
NM_005633.4(SOS1):c.3770C>T (p.Thr1257Ile)
|
rs962478091
|
|
|
NM_005634.3(SOX3):c.726_743del (p.Ala243_Ala248del)
|
|
|
|
NM_005634.3(SOX3):c.732delinsCGCC (p.Ala248dup)
|
rs794726924
|
|
|
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup)
|
rs398124211
|
|
|
NM_005654.6(NR2F1):c.107_115dup (p.Gly36_Gly38dup)
|
rs1414612574
|
|
|
NM_005654.6(NR2F1):c.92GCG[7] (p.Gly36dup)
|
rs954495672
|
|
|
NM_005666.4(CFHR2):c.79A>G (p.Lys27Glu)
|
|
|
|
NM_005670.4(EPM2A):c.136G>A (p.Ala46Thr)
|
rs374338349
|
|
|
NM_005676.5(RBM10):c.336GGA[7] (p.Glu119del)
|
|
|
|
NM_005677.4(COLQ):c.1338C>G (p.Ile446Met)
|
rs73818504
|
|
|
NM_005677.4(COLQ):c.718-9C>T
|
rs756975517
|
|
|
NM_005689.4(ABCB6):c.2314G>T (p.Val772Phe)
|
|
|
|
NM_005708.5(GPC6):c.1152+9T>A
|
rs794727797
|
|
|
NM_005709.4(USH1C):c.1220G>A (p.Gly407Glu)
|
rs143923730
|
|
|
NM_005726.6(TSFM):c.408G>A (p.Leu136=)
|
rs144109380
|
|
|
NM_005726.6(TSFM):c.53A>T (p.Tyr18Phe)
|
rs548510701
|
|
|
NM_005732.4(RAD50):c.1052-4A>G
|
rs1561639434
|
|
|
NM_005732.4(RAD50):c.1190A>T (p.His397Leu)
|
rs562153754
|
|
|
NM_005732.4(RAD50):c.1216G>C (p.Gly406Arg)
|
rs747951988
|
|
|
NM_005732.4(RAD50):c.1352G>A (p.Ser451Asn)
|
rs755082861
|
|
|
NM_005732.4(RAD50):c.1453-4C>G
|
rs747751038
|
|
|
NM_005732.4(RAD50):c.1677C>G (p.His559Gln)
|
rs142619269
|
|
|
NM_005732.4(RAD50):c.1749A>G (p.Lys583=)
|
rs2149842746
|
|
|
NM_005732.4(RAD50):c.1794-5T>G
|
rs1554098579
|
|
|
NM_005732.4(RAD50):c.214-5C>G
|
rs534966725
|
|
|
NM_005732.4(RAD50):c.2398-6_2398-4del
|
rs1750932790
|
|
|
NM_005732.4(RAD50):c.2719-4T>A
|
rs1474922117
|
|
|
NM_005732.4(RAD50):c.2738G>A (p.Ser913Asn)
|
rs876659971
|
|
|
NM_005732.4(RAD50):c.2872A>G (p.Met958Val)
|
rs570502111
|
|
|
NM_005732.4(RAD50):c.2944A>G (p.Lys982Glu)
|
rs1581004859
|
|
|
NM_005732.4(RAD50):c.3877_3879dup (p.Ile1293dup)
|
rs765370709
|
|
|
NM_005732.4(RAD50):c.3908G>A (p.Ser1303Asn)
|
rs766044158
|
|
|
NM_005732.4(RAD50):c.445G>T (p.Ala149Ser)
|
rs2149837742
|
|
|
NM_005732.4(RAD50):c.477A>G (p.Gln159=)
|
rs876660281
|
|
|
NM_005732.4(RAD50):c.5C>T (p.Ser2Phe)
|
rs1554096631
|
|
|
NM_005732.4(RAD50):c.633A>G (p.Lys211=)
|
rs1554097809
|
|
|
NM_005732.4(RAD50):c.757-4T>C
|
rs1554098154
|
|
|
NM_005732.4(RAD50):c.828T>G (p.Asp276Glu)
|
rs1232305395
|
|
|
NM_005739.4(RASGRP1):c.849+8A>G
|
|
|
|
NM_005744.5(ARIH1):c.237CGG[4] (p.Gly88_Gly90del)
|
rs375614248
|
|
|
NM_005744.5(ARIH1):c.237CGG[9] (p.Gly89_Gly90dup)
|
rs375614248
|
|
|
NM_005751.5(AKAP9):c.10118C>G (p.Ser3373Cys)
|
rs140470576
|
|
|
NM_005751.5(AKAP9):c.11229G>A (p.Met3743Ile)
|
rs143306820
|
|
|
NM_005751.5(AKAP9):c.11230G>T (p.Gly3744Trp)
|
rs200327385
|
|
|
NM_005751.5(AKAP9):c.2945C>A (p.Ser982Tyr)
|
rs374340343
|
|
|
NM_005751.5(AKAP9):c.4351A>G (p.Met1451Val)
|
rs1330827109
|
|
|
NM_005751.5(AKAP9):c.7190C>G (p.Ala2397Gly)
|
rs372568340
|
|
|
NM_005751.5(AKAP9):c.7773A>C (p.Gln2591His)
|
rs553800160
|
|
|
NM_005751.5(AKAP9):c.8345C>T (p.Thr2782Ile)
|
rs543634397
|
|
|
NM_005751.5(AKAP9):c.8894A>G (p.Tyr2965Cys)
|
rs201958512
|
|
|
NM_005763.4(AASS):c.1529-3T>C
|
|
|
|
NM_005765.3(ATP6AP2):c.225C>T (p.Thr75=)
|
|
|
|
NM_005797.4(MPZL2):c.278A>T (p.Asp93Val)
|
|
|
|
NM_005802.5(TOPORS):c.1953C>T (p.Ser651=)
|
rs727504178
|
|
|
NM_005802.5(TOPORS):c.2018G>T (p.Arg673Leu)
|
rs147497536
|
|
|
NM_005802.5(TOPORS):c.3003G>C (p.Glu1001Asp)
|
|
|
|
NM_005850.5(SF3B4):c.1058C>A (p.Pro353His)
|
rs782461594
|
|
|
NM_005859.5(PURA):c.132CGG[6] (p.Gly49dup)
|
rs754074166
|
|
|
NM_005862.3(STAG1):c.140A>G (p.Asn47Ser)
|
|
|
|
NM_005876.5(SPEG):c.8598C>A (p.His2866Gln)
|
|
|
|
NM_005879.3(TRAIP):c.706-3T>C
|
|
|
|
NM_005879.3(TRAIP):c.898G>A (p.Glu300Lys)
|
|
|
|
NM_005881.4(BCKDK):c.*9C>A
|
rs199965337
|
|
|
NM_005883.3(APC2):c.4957C>G (p.Arg1653Gly)
|
|
|
|
NM_005883.3(APC2):c.6551G>C (p.Arg2184Pro)
|
|
|
|
NM_005886.3(KATNB1):c.1193G>A (p.Arg398Gln)
|
|
|
|
NM_005901.6(SMAD2):c.327-8C>G
|
|
|
|
NM_005902.4(SMAD3):c.401-11C>A
|
rs1962548669
|
|
|
NM_005902.4(SMAD3):c.659-12del
|
|
|
|
NM_005908.4(MANBA):c.1953G>A (p.Thr651=)
|
rs886058968
|
|
|
NM_005908.4(MANBA):c.2269T>C (p.Leu757=)
|
rs774068992
|
|
|
NM_005908.4(MANBA):c.2358C>T (p.Asn786=)
|
rs767182713
|
|
|
NM_005921.2(MAP3K1):c.458C>T (p.Pro153Leu)
|
rs576080629
|
|
|
NM_005957.5(MTHFR):c.1408_1409delinsCT (p.Glu470Leu)
|
rs886043349
|
|
|
NM_005957.5(MTHFR):c.469C>A (p.Arg157=)
|
rs776195746
|
|
|
NM_005993.5(TBCD):c.-6G>T
|
|
|
|
NM_005993.5(TBCD):c.1087+4C>T
|
|
|
|
NM_005995.5(TBX10):c.331T>A (p.Tyr111Asn)
|
|
|
|
NM_006005.3(WFS1):c.1134C>G (p.Thr378=)
|
rs71530904
|
|
|
NM_006005.3(WFS1):c.114C>T (p.Ser38=)
|
rs531593902
|
|
|
NM_006005.3(WFS1):c.132C>T (p.Pro44=)
|
rs754346893
|
|
|
NM_006005.3(WFS1):c.1333C>G (p.Leu445Val)
|
rs764932308
|
|
|
NM_006005.3(WFS1):c.154C>A (p.Pro52Thr)
|
rs111773340
|
|
|
NM_006005.3(WFS1):c.1653C>A (p.Ser551=)
|
rs766730980
|
|
|
NM_006005.3(WFS1):c.1681A>G (p.Ile561Val)
|
rs766673431
|
|
|
NM_006005.3(WFS1):c.169G>T (p.Ala57Ser)
|
rs372783392
|
|
|
NM_006005.3(WFS1):c.2027G>A (p.Arg676His)
|
rs143055296
|
|
|
NM_006005.3(WFS1):c.2369C>T (p.Ser790Leu)
|
rs369107336
|
|
|
NM_006005.3(WFS1):c.2370G>C (p.Ser790=)
|
rs150936382
|
|
|
NM_006005.3(WFS1):c.2385G>A (p.Glu795=)
|
rs373310972
|
|
|
NM_006005.3(WFS1):c.2406C>G (p.Ile802Met)
|
rs201102144
|
|
|
NM_006005.3(WFS1):c.2432A>G (p.Lys811Arg)
|
rs557048986
|
|
|
NM_006005.3(WFS1):c.2466C>T (p.Leu822=)
|
rs141669724
|
|
|
NM_006005.3(WFS1):c.2481C>T (p.Thr827=)
|
rs886059532
|
|
|
NM_006005.3(WFS1):c.2514T>C (p.Pro838=)
|
rs773643250
|
|
|
NM_006005.3(WFS1):c.2563_2565delinsCCG (p.Ser855Pro)
|
rs1560422132
|
|
|
NM_006005.3(WFS1):c.2580C>T (p.His860=)
|
rs754802246
|
|
|
NM_006005.3(WFS1):c.468G>T (p.Thr156=)
|
rs201145164
|
|
|
NM_006005.3(WFS1):c.47C>T (p.Pro16Leu)
|
rs34653805
|
|
|
NM_006005.3(WFS1):c.654C>T (p.Pro218=)
|
rs727504666
|
|
|
NM_006005.3(WFS1):c.672G>A (p.Gln224=)
|
rs1224486316
|
|
|
NM_006009.4(TUBA1A):c.273A>G (p.Gln91=)
|
rs765483435
|
|
|
NM_006009.4(TUBA1A):c.276T>C (p.Leu92=)
|
rs1065671
|
|
|
NM_006014.5(LAGE3):c.28G>A (p.Gly10Arg)
|
|
|
|
NM_006014.5(LAGE3):c.7G>C (p.Asp3His)
|
|
|
|
NM_006015.6(ARID1A):c.1029_1040dup (p.Ala349_Ser350insAlaAlaAlaAla)
|
|
|
|
NM_006015.6(ARID1A):c.1753CAG[1] (p.Gln586del)
|
rs777762320
|
|
|
NM_006015.6(ARID1A):c.1883T>C (p.Met628Thr)
|
|
|
|
NM_006015.6(ARID1A):c.2109C>A (p.Pro703=)
|
|
|
|
NM_006015.6(ARID1A):c.239A>G (p.Asn80Ser)
|
rs1553145891
|
|
|
NM_006015.6(ARID1A):c.2419+10_2419+21del
|
|
|
|
NM_006015.6(ARID1A):c.249CGG[5] (p.Gly87_Ala88insGly)
|
|
|
|
NM_006015.6(ARID1A):c.249CGG[6] (p.Gly86_Gly87dup)
|
rs1015322780
|
|
|
NM_006015.6(ARID1A):c.250_267dup (p.Gly84_Gly89dup)
|
rs777773061
|
|
|
NM_006015.6(ARID1A):c.261_278del (p.Ala88_Gly93del)
|
rs749452696
|
|
|
NM_006015.6(ARID1A):c.326C>T (p.Pro109Leu)
|
rs1167372383
|
|
|
NM_006015.6(ARID1A):c.3426G>T (p.Gln1142His)
|
rs2124103896
|
|
|
NM_006015.6(ARID1A):c.4114C>T (p.Pro1372Ser)
|
|
|
|
NM_006015.6(ARID1A):c.483CGC[5] (p.Ala167dup)
|
rs759913677
|
|
|
NM_006015.6(ARID1A):c.48GCC[7] (p.Pro20_Pro21dup)
|
rs748085214
|
|
|
NM_006015.6(ARID1A):c.6613G>A (p.Ala2205Thr)
|
|
|
|
NM_006015.6(ARID1A):c.6652A>T (p.Met2218Leu)
|
|
|
|
NM_006015.6(ARID1A):c.729GGC[4] (p.Ala247dup)
|
rs749970078
|
|
|
NM_006015.6(ARID1A):c.945C>T (p.Asp315=)
|
|
|
|
NM_006017.3(PROM1):c.2514-4A>G
|
rs1236769724
|
|
|
NM_006019.4(TCIRG1):c.1623G>A (p.Leu541=)
|
rs534950651
|
|
|
NM_006019.4(TCIRG1):c.1755G>T (p.Val585=)
|
rs1554999033
|
|
|
NM_006019.4(TCIRG1):c.1836C>T (p.Asn612=)
|
rs886042823
|
|
|
NM_006031.6(PCNT):c.1083A>G (p.Leu361=)
|
rs758561093
|
|
|
NM_006031.6(PCNT):c.2108A>T (p.Tyr703Phe)
|
rs572444748
|
|
|
NM_006031.6(PCNT):c.2154+7C>T
|
rs376236418
|
|
|
NM_006031.6(PCNT):c.24G>C (p.Arg8=)
|
rs375279759
|
|
|
NM_006031.6(PCNT):c.2628A>G (p.Lys876=)
|
rs758820636
|
|
|
NM_006031.6(PCNT):c.268-5_268-3del
|
rs751683541
|
|
|
NM_006031.6(PCNT):c.3441C>T (p.Asp1147=)
|
rs201652457
|
|
|
NM_006031.6(PCNT):c.3481G>A (p.Ala1161Thr)
|
rs150279909
|
|
|
NM_006031.6(PCNT):c.4003+10A>G
|
|
|
|
NM_006031.6(PCNT):c.428G>A (p.Arg143His)
|
rs58106867
|
|
|
NM_006031.6(PCNT):c.445A>T (p.Ser149Cys)
|
rs111737555
|
|
|
NM_006031.6(PCNT):c.481_519dup (p.Val161_Thr173dup)
|
rs886042352
|
|
|
NM_006031.6(PCNT):c.5074G>A (p.Val1692Ile)
|
rs113342730
|
|
|
NM_006031.6(PCNT):c.5479G>A (p.Ala1827Thr)
|
|
|
|
NM_006031.6(PCNT):c.5563C>A (p.Arg1855=)
|
rs151138182
|
|
|
NM_006031.6(PCNT):c.5563C>T (p.Arg1855Trp)
|
rs151138182
|
|
|
NM_006031.6(PCNT):c.5792G>T (p.Arg1931Leu)
|
rs776640595
|
|
|
NM_006031.6(PCNT):c.5995-12_5995-4del
|
rs759946797
|
|
|
NM_006031.6(PCNT):c.6258C>G (p.Phe2086Leu)
|
|
|
|
NM_006031.6(PCNT):c.6578C>T (p.Pro2193Leu)
|
rs368565898
|
|
|
NM_006031.6(PCNT):c.7162C>T (p.Arg2388Cys)
|
rs201562329
|
|
|
NM_006031.6(PCNT):c.720+10C>T
|
|
|
|
NM_006031.6(PCNT):c.7977G>T (p.Gln2659His)
|
rs2070426
|
|
|
NM_006031.6(PCNT):c.8889G>A (p.Ser2963=)
|
rs151325202
|
|
|
NM_006031.6(PCNT):c.9393+8C>T
|
rs750108017
|
|
|
NM_006059.4(LAMC3):c.1939G>C (p.Gly647Arg)
|
rs144242690
|
|
|
NM_006059.4(LAMC3):c.3069+8G>T
|
rs563444562
|
|
|
NM_006059.4(LAMC3):c.3250G>C (p.Glu1084Gln)
|
rs146221263
|
|
|
NM_006059.4(LAMC3):c.3379G>A (p.Glu1127Lys)
|
rs140955110
|
|
|
NM_006059.4(LAMC3):c.4146G>C (p.Arg1382Ser)
|
rs147092908
|
|
|
NM_006059.4(LAMC3):c.42_50dup (p.Pro15_Ala17dup)
|
rs1057520165
|
|
|
NM_006060.6(IKZF1):c.1368G>A (p.Gly456=)
|
|
|
|
NM_006073.4(TRDN):c.1365G>A (p.Glu455=)
|
rs1452206168
|
|
|
NM_006079.5(CITED2):c.114CCA[1] (p.His39del)
|
rs749590293
|
|
|
NM_006080.3(SEMA3A):c.2150_2151inv (p.Thr717Met)
|
|
|
|
NM_006096.4(NDRG1):c.306C>A (p.Gly102=)
|
rs2233322
|
|
|
NM_006096.4(NDRG1):c.666C>A (p.Gly222=)
|
rs1432095364
|
|
|
NM_006118.4(HAX1):c.713C>T (p.Thr238Ile)
|
rs377331781
|
|
|
NM_006121.4(KRT1):c.302G>C (p.Gly101Ala)
|
|
|
|
NM_006147.4(IRF6):c.1259G>A (p.Arg420His)
|
|
|
|
NM_006164.5(NFE2L2):c.1685T>G (p.Leu562Arg)
|
|
|
|
NM_006180.6(NTRK2):c.1195+7A>T
|
rs949522665
|
|
|
NM_006180.6(NTRK2):c.1937+8G>A
|
|
|
|
NM_006180.6(NTRK2):c.211A>G (p.Ile71Val)
|
rs1169880026
|
|
|
NM_006180.6(NTRK2):c.560C>A (p.Ala187Glu)
|
|
|
|
NM_006180.6(NTRK2):c.607G>T (p.Ala203Ser)
|
rs117250170
|
|
|
NM_006182.4(DDR2):c.243T>A (p.Asp81Glu)
|
rs138537887
|
|
|
NM_006186.4(NR4A2):c.*659_*661del
|
rs577936871
|
|
|
NM_006204.4(PDE6C):c.2208+13_2208+17del
|
rs886047483
|
|
|
NM_006204.4(PDE6C):c.252G>T (p.Leu84=)
|
rs1131978
|
|
|
NM_006206.6(PDGFRA):c.1596G>C (p.Leu532=)
|
rs1723603076
|
|
|
NM_006206.6(PDGFRA):c.1821G>C (p.Val607=)
|
rs886059446
|
|
|
NM_006206.6(PDGFRA):c.2040A>C (p.Gly680=)
|
rs773679384
|
|
|
NM_006206.6(PDGFRA):c.219T>C (p.Asn73=)
|
rs886059443
|
|
|
NM_006206.6(PDGFRA):c.2574C>A (p.Pro858=)
|
rs771421611
|
|
|
NM_006206.6(PDGFRA):c.3195G>A (p.Glu1065=)
|
rs1724822643
|
|
|
NM_006206.6(PDGFRA):c.480C>T (p.Thr160=)
|
rs1461385164
|
|
|
NM_006208.3(ENPP1):c.2236A>C (p.Asn746His)
|
rs144099489
|
|
|
NM_006208.3(ENPP1):c.27C>G (p.Gly9=)
|
rs794726927
|
|
|
NM_006208.3(ENPP1):c.313+8_313+9insTT
|
rs879243445
|
|
|
NM_006208.3(ENPP1):c.313+8_313+9insTTGTGT
|
rs879243445
|
|
|
NM_006208.3(ENPP1):c.313+9GT[16]
|
rs59956343
|
|
|
NM_006208.3(ENPP1):c.313+9GT[17]
|
rs59956343
|
|
|
NM_006208.3(ENPP1):c.313+9GT[20]
|
rs59956343
|
|
|
NM_006208.3(ENPP1):c.313+9GT[22]
|
rs59956343
|
|
|
NM_006225.4(PLCD1):c.1836C>A (p.Asn612Lys)
|
rs115653853
|
|
|
NM_006231.4(POLE):c.-6G>A
|
rs534524789
|
|
|
NM_006231.4(POLE):c.-6G>C
|
rs534524789
|
|
|
NM_006231.4(POLE):c.1020+5_1020+6delinsAA
|
rs1064795707
|
|
|
NM_006231.4(POLE):c.1021-20C>G
|
rs1064796140
|
|
|
NM_006231.4(POLE):c.1106+7C>A
|
rs369889926
|
|
|
NM_006231.4(POLE):c.1145G>A (p.Ser382Asn)
|
rs761600715
|
|
|
NM_006231.4(POLE):c.1242C>T (p.Asp414=)
|
rs775213170
|
|
|
NM_006231.4(POLE):c.1257G>A (p.Val419=)
|
rs1565973352
|
|
|
NM_006231.4(POLE):c.1360-6C>A
|
rs139836643
|
|
|
NM_006231.4(POLE):c.1520T>C (p.Val507Ala)
|
rs904849438
|
|
|
NM_006231.4(POLE):c.1707C>G (p.Phe569Leu)
|
rs147438050
|
|
|
NM_006231.4(POLE):c.1781C>T (p.Thr594Ile)
|
rs574033788
|
|
|
NM_006231.4(POLE):c.1924-23_1927del
|
rs1064795679
|
|
|
NM_006231.4(POLE):c.2085C>T (p.Phe695=)
|
rs1060500837
|
|
|
NM_006231.4(POLE):c.2089C>G (p.Pro697Ala)
|
rs5744800
|
|
|
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg)
|
rs36120395
|
|
|
NM_006231.4(POLE):c.2292G>A (p.Arg764=)
|
rs1555227097
|
|
|
NM_006231.4(POLE):c.2382C>T (p.Cys794=)
|
rs767271169
|
|
|
NM_006231.4(POLE):c.2469-5C>T
|
rs1565961371
|
|
|
NM_006231.4(POLE):c.2575C>T (p.Leu859=)
|
rs1565960909
|
|
|
NM_006231.4(POLE):c.2727G>A (p.Gln909=)
|
rs1555226055
|
|
|
NM_006231.4(POLE):c.2784C>T (p.Ser928=)
|
rs1011427549
|
|
|
NM_006231.4(POLE):c.286-8_286-7del
|
rs2043139110
|
|
|
NM_006231.4(POLE):c.3264_3275+13dup
|
rs761516512
|
|
|
NM_006231.4(POLE):c.3267C>T (p.Val1089=)
|
rs1555225636
|
|
|
NM_006231.4(POLE):c.3583-9T>G
|
rs1218288858
|
|
|
NM_006231.4(POLE):c.3670_3671delinsTT (p.Ala1224Leu)
|
rs864622698
|
|
|
NM_006231.4(POLE):c.3905T>C (p.Leu1302Pro)
|
rs766058852
|
|
|
NM_006231.4(POLE):c.4445-3C>T
|
rs1555222948
|
|
|
NM_006231.4(POLE):c.4461C>T (p.Ile1487=)
|
rs536917758
|
|
|
NM_006231.4(POLE):c.4551+10G>A
|
rs1565938933
|
|
|
NM_006231.4(POLE):c.4587G>A (p.Leu1529=)
|
rs1565938547
|
|
|
NM_006231.4(POLE):c.4645C>G (p.Pro1549Ala)
|
rs147500308
|
|
|
NM_006231.4(POLE):c.4680C>T (p.Asp1560=)
|
rs774425403
|
|
|
NM_006231.4(POLE):c.4731G>A (p.Glu1577=)
|
rs772361606
|
|
|
NM_006231.4(POLE):c.4953-5T>C
|
rs757060708
|
|
|
NM_006231.4(POLE):c.5379-15C>T
|
rs2138511721
|
|
|
NM_006231.4(POLE):c.5502C>T (p.Asp1834=)
|
rs1555221903
|
|
|
NM_006231.4(POLE):c.5678+6G>A
|
rs551185075
|
|
|
NM_006231.4(POLE):c.5679-3C>T
|
rs1555221512
|
|
|
NM_006231.4(POLE):c.579-3T>C
|
rs1593082215
|
|
|
NM_006231.4(POLE):c.602T>C (p.Ile201Thr)
|
rs375209004
|
|
|
NM_006231.4(POLE):c.6192C>T (p.Phe2064=)
|
rs1555220905
|
|
|
NM_006231.4(POLE):c.6271C>T (p.Pro2091Ser)
|
rs572252265
|
|
|
NM_006231.4(POLE):c.6279C>T (p.Ser2093=)
|
rs1262321199
|
|
|
NM_006231.4(POLE):c.6334C>T (p.Leu2112=)
|
rs373443211
|
|
|
NM_006231.4(POLE):c.6498C>T (p.Asp2166=)
|
rs946547049
|
|
|
NM_006231.4(POLE):c.720+3G>A
|
rs1555229633
|
|
|
NM_006231.4(POLE):c.804C>T (p.Asp268=)
|
rs1593079711
|
|
|
NM_006245.4(PPP2R5D):c.117GCCCCA[3] (p.38PQ[4])
|
|
|
|
NM_006245.4(PPP2R5D):c.117GCCCCA[5] (p.38PQ[6])
|
|
|
|
NM_006245.4(PPP2R5D):c.1598C>T (p.Ser533Leu)
|
|
|
|
NM_006245.4(PPP2R5D):c.1772C>T (p.Ala591Val)
|
|
|
|
NM_006245.4(PPP2R5D):c.8A>T (p.Tyr3Phe)
|
rs2150245534
|
|
|
NM_006261.5(PROP1):c.592T>C (p.Leu198=)
|
rs780774091
|
|
|
NM_006261.5(PROP1):c.636T>C (p.Pro212=)
|
rs759632048
|
|
|
NM_006267.5(RANBP2):c.3363G>T (p.Lys1121Asn)
|
rs112835359
|
|
|
NM_006270.5(RRAS):c.*5G>A
|
|
|
|
NM_006295.3(VARS1):c.1277G>A (p.Arg426Gln)
|
|
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
|
NM_006306.4(SMC1A):c.2700C>T (p.Gly900=)
|
rs186510389
|
|
|
NM_006306.4(SMC1A):c.3534G>C (p.Ser1178=)
|
rs782763816
|
|
|
NM_006308.3(HSPB3):c.347G>C (p.Arg116Pro)
|
rs150931007
|
|
|
NM_006311.4(NCOR1):c.148G>A (p.Val50Met)
|
|
|
|
NM_006343.3(MERTK):c.1137T>G (p.Thr379=)
|
rs1558793454
|
|
|
NM_006343.3(MERTK):c.1405G>T (p.Val469Phe)
|
rs79943145
|
|
|
NM_006343.3(MERTK):c.1961-4dup
|
rs772574056
|
|
|
NM_006343.3(MERTK):c.2435A>C (p.Tyr812Ser)
|
rs141361084
|
|
|
NM_006348.5(COG5):c.948+12A>T
|
rs763696416
|
|
|
NM_006361.6(HOXB13):c.159G>T (p.Leu53=)
|
rs1265294177
|
|
|
NM_006361.6(HOXB13):c.216G>T (p.Gly72=)
|
rs769145488
|
|
|
NM_006361.6(HOXB13):c.303C>T (p.Ala101=)
|
|
|
|
NM_006361.6(HOXB13):c.601+7C>G
|
rs752322954
|
|
|
NM_006361.6(HOXB13):c.64G>A (p.Gly22Arg)
|
rs539706443
|
|
|
NM_006371.5(CRTAP):c.930C>T (p.Asp310=)
|
rs762039541
|
|
|
NM_006393.3(NEBL):c.1775C>A (p.Ala592Glu)
|
rs146275785
|
|
|
NM_006397.3(RNASEH2A):c.550-13G>A
|
rs560268310
|
|
|
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala)
|
rs119482084
|
|
|
NM_006415.4(SPTLC1):c.1329-9T>C
|
rs778388513
|
|
|
NM_006420.3(ARFGEF2):c.276+6A>G
|
rs1427216608
|
|
|
NM_006420.3(ARFGEF2):c.3177G>T (p.Ser1059=)
|
rs61748373
|
|
|
NM_006420.3(ARFGEF2):c.3758-3del
|
rs797045256
|
|
|
NM_006420.3(ARFGEF2):c.4756-7C>T
|
rs868504867
|
|
|
NM_006432.5(NPC2):c.165C>T (p.Tyr55=)
|
rs2086712268
|
|
|
NM_006445.4(PRPF8):c.5001C>T (p.Arg1667=)
|
rs794727562
|
|
|
NM_006445.4(PRPF8):c.5943G>C (p.Val1981=)
|
rs758937794
|
|
|
NM_006486.3(FBLN1):c.1282G>T (p.Val428Leu)
|
|
|
|
NM_006486.3(FBLN1):c.279G>T (p.Thr93=)
|
rs765918593
|
|
|
NM_006493.4(CLN5):c.162G>A (p.Pro54=)
|
rs754303449
|
|
|
NM_006493.4(CLN5):c.566-7A>G
|
rs772501269
|
|
|
NM_006502.3(POLH):c.1000C>G (p.Arg334Gly)
|
rs9333548
|
|
|
NM_006502.3(POLH):c.1247CTC[2] (p.Pro418del)
|
rs747834463
|
|
|
NM_006502.3(POLH):c.1952T>C (p.Met651Thr)
|
|
|
|
NM_006506.5(RASA2):c.12_32dup (p.Ala5_Ala11dup)
|
rs1194909078
|
|
|
NM_006506.5(RASA2):c.133+9G>A
|
rs1353085625
|
|
|
NM_006506.5(RASA2):c.349C>T (p.Arg117Cys)
|
rs767782524
|
|
|
NM_006506.5(RASA2):c.4GCG[5] (p.Ala5dup)
|
rs747837865
|
|
|
NM_006506.5(RASA2):c.535G>A (p.Ala179Thr)
|
|
|
|
NM_006514.4(SCN10A):c.1667A>T (p.Gln556Leu)
|
rs1423285355
|
|
|
NM_006514.4(SCN10A):c.2062G>A (p.Gly688Ser)
|
rs779931477
|
|
|
NM_006514.4(SCN10A):c.2161C>T (p.Pro721Ser)
|
rs747114420
|
|
|
NM_006514.4(SCN10A):c.2476G>A (p.Asp826Asn)
|
rs199535863
|
|
|
NM_006514.4(SCN10A):c.3020A>G (p.Asp1007Gly)
|
|
|
|
NM_006514.4(SCN10A):c.3108C>T (p.Val1036=)
|
rs970173552
|
|
|
NM_006514.4(SCN10A):c.3361C>A (p.Arg1121Ser)
|
rs146965005
|
|
|
NM_006514.4(SCN10A):c.3361C>T (p.Arg1121Cys)
|
rs146965005
|
|
|
NM_006514.4(SCN10A):c.4762C>T (p.Arg1588Ter)
|
rs142537392
|
|
|
NM_006514.4(SCN10A):c.5023C>A (p.Pro1675Thr)
|
rs758877832
|
|
|
NM_006514.4(SCN10A):c.5065A>G (p.Arg1689Gly)
|
rs767267531
|
|
|
NM_006514.4(SCN10A):c.542A>C (p.Glu181Ala)
|
rs142203439
|
|
|
NM_006516.4(SLC2A1):c.1023C>G (p.Leu341=)
|
rs143588685
|
|
|
NM_006516.4(SLC2A1):c.1215C>T (p.Ala405=)
|
rs769506294
|
|
|
NM_006516.4(SLC2A1):c.1408G>C (p.Gly470Arg)
|
rs572648977
|
|
|
NM_006516.4(SLC2A1):c.1467T>C (p.Asp489=)
|
rs1181822928
|
|
|
NM_006516.4(SLC2A1):c.229A>G (p.Met77Val)
|
rs776583130
|
|
|
NM_006516.4(SLC2A1):c.679+4C>A
|
rs139492241
|
|
|
NM_006516.4(SLC2A1):c.679+4C>T
|
rs139492241
|
|
|
NM_006516.4(SLC2A1):c.726G>A (p.Gln242=)
|
rs1570592618
|
|
|
NM_006517.5(SLC16A2):c.113AGCCCG[4] (p.34EP[6])
|
rs757881983
|
|
|
NM_006563.5(KLF1):c.978G>A (p.Leu326=)
|
|
|
|
NM_006579.3(EBP):c.38C>G (p.Pro13Arg)
|
|
|
|
NM_006618.5(KDM5B):c.1822-3C>T
|
|
|
|
NM_006618.5(KDM5B):c.712-4del
|
rs558975598
|
|
|
NM_006623.4(PHGDH):c.1078+10G>T
|
rs374994783
|
|
|
NM_006623.4(PHGDH):c.1158G>A (p.Ala386=)
|
rs144484007
|
|
|
NM_006623.4(PHGDH):c.381G>A (p.Ser127=)
|
rs886045205
|
|
|
NM_006623.4(PHGDH):c.519G>A (p.Gly173=)
|
rs754326499
|
|
|
NM_006623.4(PHGDH):c.543G>A (p.Glu181=)
|
rs886045206
|
|
|
NM_006642.5(SDCCAG8):c.306+11A>G
|
rs781456866
|
|
|
NM_006642.5(SDCCAG8):c.597C>A (p.Gly199=)
|
rs143407309
|
|
|
NM_006659.4(TUBGCP2):c.1145C>T (p.Ala382Val)
|
|
|
|
NM_006662.3(SRCAP):c.1992A>G (p.Lys664=)
|
|
|
|
NM_006662.3(SRCAP):c.5838C>A (p.Pro1946=)
|
rs1276291921
|
|
|
NM_006662.3(SRCAP):c.6297+17C>T
|
|
|
|
NM_006662.3(SRCAP):c.6576G>A (p.Glu2192=)
|
rs886044120
|
|
|
NM_006662.3(SRCAP):c.7133C>T (p.Thr2378Ile)
|
|
|
|
NM_006662.3(SRCAP):c.7544C>T (p.Pro2515Leu)
|
|
|
|
NM_006662.3(SRCAP):c.7765G>A (p.Ala2589Thr)
|
|
|
|
NM_006734.4(HIVEP2):c.1816G>A (p.Val606Met)
|
rs1775590631
|
|
|
NM_006734.4(HIVEP2):c.3119C>A (p.Pro1040Gln)
|
|
|
|
NM_006734.4(HIVEP2):c.4861G>A (p.Asp1621Asn)
|
|
|
|
NM_006734.4(HIVEP2):c.5137C>T (p.Pro1713Ser)
|
|
|
|
NM_006734.4(HIVEP2):c.5398A>G (p.Ile1800Val)
|
rs2114628187
|
|
|
NM_006734.4(HIVEP2):c.6601C>T (p.Leu2201Phe)
|
|
|
|
NM_006755.2(TALDO1):c.330G>A (p.Arg110=)
|
rs141640651
|
|
|
NM_006755.2(TALDO1):c.96C>T (p.His32=)
|
|
|
|
NM_006766.5(KAT6A):c.2599C>T (p.Arg867Cys)
|
|
|
|
NM_006766.5(KAT6A):c.2806C>A (p.Pro936Thr)
|
rs367785766
|
|
|
NM_006766.5(KAT6A):c.2849A>G (p.Gln950Arg)
|
|
|
|
NM_006766.5(KAT6A):c.2869G>C (p.Ala957Pro)
|
rs374802138
|
|
|
NM_006766.5(KAT6A):c.2914C>T (p.Arg972Cys)
|
|
|
|
NM_006766.5(KAT6A):c.2978A>C (p.Glu993Ala)
|
|
|
|
NM_006766.5(KAT6A):c.3086A>G (p.His1029Arg)
|
|
|
|
NM_006766.5(KAT6A):c.3264G>T (p.Leu1088Phe)
|
rs978156504
|
|
|
NM_006766.5(KAT6A):c.3327A>T (p.Glu1109Asp)
|
|
|
|
NM_006766.5(KAT6A):c.3353-4A>G
|
rs762302738
|
|
|
NM_006766.5(KAT6A):c.3661G>A (p.Glu1221Lys)
|
|
|
|
NM_006766.5(KAT6A):c.4529C>T (p.Thr1510Ile)
|
rs1281540872
|
|
|
NM_006766.5(KAT6A):c.4968_4982dup (p.Gln1657_Pro1661dup)
|
rs750049486
|
|
|
NM_006766.5(KAT6A):c.5195A>G (p.Tyr1732Cys)
|
|
|
|
NM_006766.5(KAT6A):c.5600C>T (p.Ala1867Val)
|
|
|
|
NM_006766.5(KAT6A):c.5629C>T (p.Arg1877Cys)
|
|
|
|
NM_006766.5(KAT6A):c.571G>T (p.Val191Leu)
|
rs1057523324
|
|
|
NM_006767.4(LZTR1):c.1314G>A (p.Glu438=)
|
|
|
|
NM_006767.4(LZTR1):c.1616-4del
|
|
|
|
NM_006767.4(LZTR1):c.1700G>A (p.Arg567His)
|
rs372417941
|
|
|
NM_006767.4(LZTR1):c.1785+4T>G
|
rs1924762620
|
|
|
NM_006767.4(LZTR1):c.1901A>C (p.Gln634Pro)
|
rs770312150
|
|
|
NM_006767.4(LZTR1):c.1941T>C (p.Ile647=)
|
|
|
|
NM_006767.4(LZTR1):c.2070-15G>A
|
rs1601722962
|
|
|
NM_006767.4(LZTR1):c.2326-10G>A
|
rs778909787
|
|
|
NM_006767.4(LZTR1):c.2326-11T>G
|
rs1421950903
|
|
|
NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala)
|
rs756485244
|
|
|
NM_006767.4(LZTR1):c.26G>T (p.Gly9Val)
|
rs756485244
|
|
|
NM_006767.4(LZTR1):c.384C>T (p.Ser128=)
|
|
|
|
NM_006767.4(LZTR1):c.509+6A>G
|
rs1024251271
|
|
|
NM_006767.4(LZTR1):c.628C>A (p.Arg210=)
|
rs150419186
|
|
|
NM_006767.4(LZTR1):c.651+3G>A
|
|
|
|
NM_006772.3(SYNGAP1):c.2206C>T (p.Arg736Cys)
|
rs1202720979
|
|
|
NM_006772.3(SYNGAP1):c.3121C>T (p.Pro1041Ser)
|
rs1561789701
|
|
|
NM_006772.3(SYNGAP1):c.3348GGGCAGCGG[3] (p.1118SGG[3])
|
rs761763671
|
|
|
NM_006772.3(SYNGAP1):c.3661C>T (p.Arg1221Trp)
|
rs2151199464
|
|
|
NM_006772.3(SYNGAP1):c.4003G>A (p.Gly1335Ser)
|
rs1761351808
|
|
|
NM_006772.3(SYNGAP1):c.509+5A>C
|
rs780314191
|
|
|
NM_006785.4(MALT1):c.1401-15G>T
|
rs371051170
|
|
|
NM_006790.3(MYOT):c.1275A>G (p.Ala425=)
|
rs140678912
|
|
|
NM_006790.3(MYOT):c.1401T>C (p.Asn467=)
|
rs145427063
|
|
|
NM_006790.3(MYOT):c.343G>T (p.Ala115Ser)
|
rs114194130
|
|
|
NM_006796.3(AFG3L2):c.1167C>T (p.Val389=)
|
rs1282576516
|
|
|
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe)
|
rs117182113
|
|
|
NM_006796.3(AFG3L2):c.472A>G (p.Met158Val)
|
|
|
|
NM_006796.3(AFG3L2):c.867C>T (p.Phe289=)
|
|
|
|
NM_006846.4(SPINK5):c.2494ACAGGAGAAAGGAGCAAT[1] (p.832TGERSN[1])
|
rs554634510
|
|
|
NM_006859.4(LIAS):c.-1A>G
|
rs139360916
|
|
|
NM_006859.4(LIAS):c.76A>G (p.Arg26Gly)
|
rs773069554
|
|
|
NM_006892.4(DNMT3B):c.921+13G>A
|
rs1979990258
|
|
|
NM_006899.5(IDH3B):c.522G>T (p.Leu174=)
|
rs778097475
|
|
|
NM_006899.5(IDH3B):c.665+8G>T
|
rs1555781271
|
|
|
NM_006907.4(PYCR1):c.321G>A (p.Lys107=)
|
|
|
|
NM_006914.4(RORB):c.7+6C>T
|
rs1255360497
|
|
|
NM_006922.4(SCN3A):c.4983G>C (p.Leu1661=)
|
rs1018125027
|
|
|
NM_006922.4(SCN3A):c.5172C>T (p.Pro1724=)
|
rs370428859
|
|
|
NM_006929.5(SKIC2):c.2442G>C (p.Trp814Cys)
|
rs148221996
|
|
|
NM_006939.4(SOS2):c.3584C>T (p.Ala1195Val)
|
rs753151750
|
|
|
NM_006939.4(SOS2):c.3772T>G (p.Ser1258Ala)
|
rs1344396759
|
|
|
NM_006941.4(SOX10):c.932G>A (p.Ser311Asn)
|
|
|
|
NM_006946.4(SPTBN2):c.5681G>A (p.Gly1894Glu)
|
rs148293687
|
|
|
NM_006946.4(SPTBN2):c.6284G>A (p.Arg2095Gln)
|
|
|
|
NM_006946.4(SPTBN2):c.6502-5C>A
|
|
|
|
NM_006946.4(SPTBN2):c.6754C>T (p.Arg2252Cys)
|
|
|
|
NM_006946.4(SPTBN2):c.753C>A (p.Thr251=)
|
|
|
|
NM_006947.4(SRP72):c.1089A>G (p.Glu363=)
|
|
|
|
NM_006947.4(SRP72):c.1159+6A>G
|
|
|
|
NM_006947.4(SRP72):c.1321-4_1321-3del
|
rs1259551381
|
|
|
NM_006947.4(SRP72):c.1408C>T (p.Leu470=)
|
|
|
|
NM_006949.4(STXBP2):c.1134G>A (p.Glu378=)
|
rs755758613
|
|
|
NM_006949.4(STXBP2):c.1538+12G>C
|
|
|
|
NM_006949.4(STXBP2):c.1586G>A (p.Arg529Gln)
|
rs35490401
|
|
|
NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro)
|
rs35490401
|
|
|
NM_006950.3(SYN1):c.1982+10C>A
|
rs752321936
|
|
|
NM_006978.3(RNF113A):c.993G>A (p.Leu331=)
|
|
|
|
NM_006982.3(ALX1):c.190C>T (p.Arg64Cys)
|
rs145944049
|
|
|
NM_006996.3(SLC19A2):c.*1524C>T
|
rs79478264
|
|
|
NM_006996.3(SLC19A2):c.42G>A (p.Ala14=)
|
|
|
|
NM_007050.6(PTPRT):c.1306G>A (p.Glu436Lys)
|
|
|
|
NM_007055.4(POLR3A):c.1771-5C>G
|
rs199733994
|
|
|
NM_007055.4(POLR3A):c.1771-7C>A
|
rs201314157
|
|
|
NM_007078.3(LDB3):c.*13G>T
|
rs397517207
|
|
|
NM_007078.3(LDB3):c.1296CCCTGCCCCTGCCTACACCCCCTC[1] (p.434APAYTPSP[1])
|
rs397517209
|
|
|
NM_007078.3(LDB3):c.1296CCCTGCCCCTGCCTACACCCCCTC[3] (p.434APAYTPSP[3])
|
rs397517209
|
|
|
NM_007078.3(LDB3):c.1445C>T (p.Ala482Val)
|
rs774313535
|
|
|
NM_007078.3(LDB3):c.1538C>A (p.Thr513Asn)
|
rs748433510
|
|
|
NM_007078.3(LDB3):c.860-15C>T
|
rs727503126
|
|
|
NM_007118.4(TRIO):c.6877GGC[7] (p.Gly2298dup)
|
rs749785358
|
|
|
NM_007118.4(TRIO):c.7136C>G (p.Pro2379Arg)
|
rs781081298
|
|
|
NM_007126.5(VCP):c.1896C>A (p.Ala632=)
|
rs141275388
|
|
|
NM_007129.5(ZIC2):c.1392_1406del (p.Ala466_Ala470del)
|
rs761822481
|
|
|
NM_007175.8(ERLIN2):c.299-4_299-3del
|
rs778852699
|
|
|
NM_007175.8(ERLIN2):c.740-5C>G
|
rs191003311
|
|
|
NM_007186.6(CEP250):c.1717-3del
|
rs1470901100
|
|
|
NM_007194.4(CHEK2):c.1096-10T>C
|
rs1555913946
|
|
|
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)
|
rs587782527
|
|
|
NM_007194.4(CHEK2):c.1260-20CT[3]
|
rs760037989
|
|
|
NM_007194.4(CHEK2):c.1260-6del
|
rs878854912
|
|
|
NM_007194.4(CHEK2):c.1461+12A>G
|
rs886057328
|
|
|
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln)
|
rs587782489
|
|
|
NM_007194.4(CHEK2):c.1513T>A (p.Ser505Thr)
|
rs587781960
|
|
|
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1])
|
rs587780181
|
|
|
NM_007194.4(CHEK2):c.319+8C>A
|
rs776443322
|
|
|
NM_007194.4(CHEK2):c.38A>G (p.His13Arg)
|
rs1064793324
|
|
|
NM_007194.4(CHEK2):c.417C>T (p.Tyr139=)
|
rs200917541
|
|
|
NM_007194.4(CHEK2):c.580A>T (p.Ser194Cys)
|
rs786203042
|
|
|
NM_007194.4(CHEK2):c.593-11_593-7del
|
rs863224414
|
|
|
NM_007194.4(CHEK2):c.593-14C>G
|
rs145754558
|
|
|
NM_007194.4(CHEK2):c.593-15T>A
|
rs757717459
|
|
|
NM_007194.4(CHEK2):c.612G>T (p.Leu204=)
|
rs752876192
|
|
|
NM_007194.4(CHEK2):c.630A>G (p.Ser210=)
|
|
|
|
NM_007194.4(CHEK2):c.684-3T>C
|
rs1555921387
|
|
|
NM_007194.4(CHEK2):c.684-8C>T
|
rs1555921406
|
|
|
NM_007194.4(CHEK2):c.846T>C (p.His282=)
|
rs987815892
|
|
|
NM_007194.4(CHEK2):c.847-6T>G
|
rs1555917050
|
|
|
NM_007194.4(CHEK2):c.87A>G (p.Gln29=)
|
rs951525447
|
|
|
NM_007194.4(CHEK2):c.885A>G (p.Glu295=)
|
rs1555916935
|
|
|
NM_007214.5(SEC63):c.1697AAG[2] (p.Glu568del)
|
rs752018806
|
|
|
NM_007215.4(POLG2):c.1192-6_1192-3del
|
rs781856879
|
|
|
NM_007215.4(POLG2):c.39C>G (p.Val13=)
|
rs969072131
|
|
|
NM_007215.4(POLG2):c.417A>G (p.Leu139=)
|
rs1555669550
|
|
|
NM_007254.4(PNKP):c.1188+8del
|
rs763782151
|
|
|
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met)
|
rs200611702
|
|
|
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln)
|
rs376854895
|
|
|
NM_007254.4(PNKP):c.1545C>T (p.Tyr515=)
|
rs760131892
|
|
|
NM_007259.5(VPS45):c.702C>T (p.Ala234=)
|
rs782301145
|
|
|
NM_007272.3(CTRC):c.-59C>T
|
rs183658182
|
|
|
NM_007272.3(CTRC):c.615C>T (p.Gly205=)
|
rs756236720
|
|
|
NM_007272.3(CTRC):c.642G>A (p.Gly214=)
|
rs1265655451
|
|
|
NM_007272.3(CTRC):c.722G>A (p.Arg241Gln)
|
|
|
|
NM_007272.3(CTRC):c.737G>T (p.Arg246Leu)
|
rs147925927
|
|
|
NM_007272.3(CTRC):c.788A>G (p.Asn263Ser)
|
rs769975164
|
|
|
NM_007286.6(SYNPO):c.2387C>T (p.Pro796Leu)
|
|
|
|
NM_007294.3(BRCA1):c.2995C>A (p.Leu999Ile)
|
rs80356848
|
|
|
NM_007294.4(BRCA1):c.*4C>T
|
rs1057520246
|
|
|
NM_007294.4(BRCA1):c.*873del
|
rs59541324
|
|
|
NM_007294.4(BRCA1):c.-1A>G
|
rs587781565
|
|
|
NM_007294.4(BRCA1):c.1000C>A (p.Pro334Thr)
|
rs1555592700
|
|
|
NM_007294.4(BRCA1):c.1005C>A (p.Ser335Arg)
|
rs876660367
|
|
|
NM_007294.4(BRCA1):c.1007C>G (p.Thr336Arg)
|
rs1597878639
|
|
|
NM_007294.4(BRCA1):c.1008A>G (p.Thr336=)
|
rs1060504568
|
|
|
NM_007294.4(BRCA1):c.1009G>C (p.Glu337Gln)
|
rs2054008789
|
|
|
NM_007294.4(BRCA1):c.1011A>G (p.Glu337=)
|
rs1555592670
|
|
|
NM_007294.4(BRCA1):c.1016A>G (p.Lys339Arg)
|
rs587781737
|
|
|
NM_007294.4(BRCA1):c.1017G>T (p.Lys339Asn)
|
rs863224416
|
|
|
NM_007294.4(BRCA1):c.1021G>A (p.Asp341Asn)
|
rs756987689
|
|
|
NM_007294.4(BRCA1):c.1021G>T (p.Asp341Tyr)
|
rs756987689
|
|
|
NM_007294.4(BRCA1):c.1022A>C (p.Asp341Ala)
|
rs1567801162
|
|
|
NM_007294.4(BRCA1):c.1025T>C (p.Leu342Pro)
|
rs1555592634
|
|
|
NM_007294.4(BRCA1):c.1031C>T (p.Ala344Val)
|
rs876658636
|
|
|
NM_007294.4(BRCA1):c.1033G>T (p.Asp345Tyr)
|
rs80356961
|
|
|
NM_007294.4(BRCA1):c.1034A>G (p.Asp345Gly)
|
|
|
|
NM_007294.4(BRCA1):c.1036C>G (p.Pro346Ala)
|
rs80357015
|
|
|
NM_007294.4(BRCA1):c.1037C>A (p.Pro346His)
|
rs1555592620
|
|
|
NM_007294.4(BRCA1):c.1040T>C (p.Leu347Pro)
|
rs757987511
|
|
|
NM_007294.4(BRCA1):c.1042T>C (p.Cys348Arg)
|
rs786201928
|
|
|
NM_007294.4(BRCA1):c.1045G>A (p.Glu349Lys)
|
rs80357338
|
|
|
NM_007294.4(BRCA1):c.1049G>A (p.Arg350Lys)
|
rs2054001685
|
|
|
NM_007294.4(BRCA1):c.1052A>G (p.Lys351Arg)
|
|
|
|
NM_007294.4(BRCA1):c.1052A>T (p.Lys351Ile)
|
rs765323349
|
|
|
NM_007294.4(BRCA1):c.1054G>C (p.Glu352Gln)
|
|
|
|
NM_007294.4(BRCA1):c.1059G>C (p.Trp353Cys)
|
rs80356935
|
|
|
NM_007294.4(BRCA1):c.1061A>T (p.Asn354Ile)
|
rs1555592577
|
|
|
NM_007294.4(BRCA1):c.106T>A (p.Ser36Thr)
|
rs905812561
|
|
|
NM_007294.4(BRCA1):c.1075C>T (p.Pro359Ser)
|
rs767666190
|
|
|
NM_007294.4(BRCA1):c.1078T>C (p.Cys360Arg)
|
rs587782790
|
|
|
NM_007294.4(BRCA1):c.1090C>A (p.Pro364Thr)
|
rs876660309
|
|
|
NM_007294.4(BRCA1):c.1093A>G (p.Arg365Gly)
|
rs398122627
|
|
|
NM_007294.4(BRCA1):c.1094G>T (p.Arg365Ile)
|
rs2053994698
|
|
|
NM_007294.4(BRCA1):c.1096G>C (p.Asp366His)
|
rs1289961661
|
|
|
NM_007294.4(BRCA1):c.1097A>T (p.Asp366Val)
|
rs587781769
|
|
|
NM_007294.4(BRCA1):c.1099A>G (p.Thr367Ala)
|
rs878854929
|
|
|
NM_007294.4(BRCA1):c.1100C>A (p.Thr367Asn)
|
|
|
|
NM_007294.4(BRCA1):c.1106A>G (p.Asp369Gly)
|
rs80357416
|
|
|
NM_007294.4(BRCA1):c.1106A>T (p.Asp369Val)
|
rs80357416
|
|
|
NM_007294.4(BRCA1):c.1106_1108del (p.Asp369del)
|
rs80358325
|
|
|
NM_007294.4(BRCA1):c.1108G>C (p.Val370Leu)
|
rs1567800850
|
|
|
NM_007294.4(BRCA1):c.1108G>T (p.Val370Phe)
|
|
|
|
NM_007294.4(BRCA1):c.1114T>C (p.Trp372Arg)
|
rs1306111238
|
|
|
NM_007294.4(BRCA1):c.1118T>G (p.Ile373Arg)
|
rs2154475121
|
|
|
NM_007294.4(BRCA1):c.1121C>T (p.Thr374Ile)
|
rs80357235
|
|
|
NM_007294.4(BRCA1):c.1124T>G (p.Leu375Arg)
|
|
|
|
NM_007294.4(BRCA1):c.1129A>G (p.Ser377Gly)
|
rs1555592415
|
|
|
NM_007294.4(BRCA1):c.1131C>A (p.Ser377Arg)
|
rs786203434
|
|
|
NM_007294.4(BRCA1):c.1131C>G (p.Ser377Arg)
|
rs786203434
|
|
|
NM_007294.4(BRCA1):c.1132A>G (p.Ser378Gly)
|
rs1555592404
|
|
|
NM_007294.4(BRCA1):c.1135A>G (p.Ile379Val)
|
rs864622723
|
|
|
NM_007294.4(BRCA1):c.1136T>C (p.Ile379Thr)
|
rs1567800757
|
|
|
NM_007294.4(BRCA1):c.1139A>C (p.Gln380Pro)
|
rs876659193
|
|
|
NM_007294.4(BRCA1):c.1139A>G (p.Gln380Arg)
|
rs876659193
|
|
|
NM_007294.4(BRCA1):c.1142A>G (p.Lys381Arg)
|
rs1555592379
|
|
|
NM_007294.4(BRCA1):c.1144G>C (p.Val382Leu)
|
|
|
|
NM_007294.4(BRCA1):c.1145T>C (p.Val382Ala)
|
rs2053985286
|
|
|
NM_007294.4(BRCA1):c.1155G>T (p.Trp385Cys)
|
rs876660558
|
|
|
NM_007294.4(BRCA1):c.1160C>G (p.Ser387Cys)
|
rs1567800665
|
|
|
NM_007294.4(BRCA1):c.1162A>G (p.Arg388Gly)
|
|
|
|
NM_007294.4(BRCA1):c.1163G>A (p.Arg388Lys)
|
rs786203567
|
|
|
NM_007294.4(BRCA1):c.1163G>C (p.Arg388Thr)
|
rs786203567
|
|
|
NM_007294.4(BRCA1):c.1167T>A (p.Ser389Arg)
|
rs2154472526
|
|
|
NM_007294.4(BRCA1):c.1168G>A (p.Asp390Asn)
|
rs2154472475
|
|
|
NM_007294.4(BRCA1):c.1181G>A (p.Gly394Asp)
|
rs1555592295
|
|
|
NM_007294.4(BRCA1):c.1181G>T (p.Gly394Val)
|
rs1555592295
|
|
|
NM_007294.4(BRCA1):c.1186G>A (p.Asp396Asn)
|
rs786203145
|
|
|
NM_007294.4(BRCA1):c.1187A>T (p.Asp396Val)
|
rs1555592280
|
|
|
NM_007294.4(BRCA1):c.1190A>T (p.Asp397Val)
|
rs747727601
|
|
|
NM_007294.4(BRCA1):c.1193C>T (p.Ser398Leu)
|
rs80357068
|
|
|
NM_007294.4(BRCA1):c.1196A>G (p.His399Arg)
|
rs587780794
|
|
|
NM_007294.4(BRCA1):c.1199A>G (p.Asp400Gly)
|
rs1555592245
|
|
|
NM_007294.4(BRCA1):c.1199A>T (p.Asp400Val)
|
rs1555592245
|
|
|
NM_007294.4(BRCA1):c.1201G>A (p.Gly401Arg)
|
rs1555592242
|
|
|
NM_007294.4(BRCA1):c.1202G>A (p.Gly401Glu)
|
rs397507184
|
|
|
NM_007294.4(BRCA1):c.1202G>C (p.Gly401Ala)
|
rs397507184
|
|
|
NM_007294.4(BRCA1):c.1206G>T (p.Glu402Asp)
|
rs1283231905
|
|
|
NM_007294.4(BRCA1):c.1207T>C (p.Ser403Pro)
|
rs1555592200
|
|
|
NM_007294.4(BRCA1):c.1207T>G (p.Ser403Ala)
|
rs1555592200
|
|
|
NM_007294.4(BRCA1):c.1214C>T (p.Ser405Leu)
|
|
|
|
NM_007294.4(BRCA1):c.1222A>G (p.Lys408Glu)
|
rs80357253
|
|
|
NM_007294.4(BRCA1):c.1226T>C (p.Val409Ala)
|
rs786202539
|
|
|
NM_007294.4(BRCA1):c.1226T>G (p.Val409Gly)
|
rs786202539
|
|
|
NM_007294.4(BRCA1):c.1228G>C (p.Ala410Pro)
|
|
|
|
NM_007294.4(BRCA1):c.1231G>A (p.Asp411Asn)
|
rs80357301
|
|
|
NM_007294.4(BRCA1):c.1232A>T (p.Asp411Val)
|
rs730881469
|
|
|
NM_007294.4(BRCA1):c.1234G>A (p.Val412Ile)
|
rs587776478
|
|
|
NM_007294.4(BRCA1):c.1244T>C (p.Val415Ala)
|
rs1064796031
|
|
|
NM_007294.4(BRCA1):c.1246C>G (p.Leu416Val)
|
rs1567800325
|
|
|
NM_007294.4(BRCA1):c.1248A>G (p.Leu416=)
|
rs1057522369
|
|
|
NM_007294.4(BRCA1):c.124A>G (p.Ile42Val)
|
rs80357163
|
|
|
NM_007294.4(BRCA1):c.1250A>C (p.Asn417Thr)
|
|
|
|
NM_007294.4(BRCA1):c.1250A>G (p.Asn417Ser)
|
rs80357113
|
|
|
NM_007294.4(BRCA1):c.1251T>G (p.Asn417Lys)
|
rs80357197
|
|
|
NM_007294.4(BRCA1):c.1253A>C (p.Glu418Ala)
|
rs1555592050
|
|
|
NM_007294.4(BRCA1):c.1255G>A (p.Val419Ile)
|
rs876658873
|
|
|
NM_007294.4(BRCA1):c.1255G>C (p.Val419Leu)
|
rs876658873
|
|
|
NM_007294.4(BRCA1):c.1255G>T (p.Val419Leu)
|
|
|
|
NM_007294.4(BRCA1):c.1256T>G (p.Val419Gly)
|
rs398122628
|
|
|
NM_007294.4(BRCA1):c.1258G>C (p.Asp420His)
|
rs80357488
|
|
|
NM_007294.4(BRCA1):c.1265A>T (p.Tyr422Phe)
|
rs1567800230
|
|
|
NM_007294.4(BRCA1):c.1268C>T (p.Ser423Phe)
|
rs2154463118
|
|
|
NM_007294.4(BRCA1):c.1270G>C (p.Gly424Arg)
|
rs763051683
|
|
|
NM_007294.4(BRCA1):c.1274C>A (p.Ser425Tyr)
|
|
|
|
NM_007294.4(BRCA1):c.1277C>T (p.Ser426Leu)
|
|
|
|
NM_007294.4(BRCA1):c.1281G>C (p.Glu427Asp)
|
rs1567800181
|
|
|
NM_007294.4(BRCA1):c.1286T>G (p.Ile429Arg)
|
rs775869160
|
|
|
NM_007294.4(BRCA1):c.1289A>G (p.Asp430Gly)
|
rs2053963023
|
|
|
NM_007294.4(BRCA1):c.1291T>A (p.Leu431Ile)
|
rs960381964
|
|
|
NM_007294.4(BRCA1):c.1295T>C (p.Leu432Pro)
|
rs369394098
|
|
|
NM_007294.4(BRCA1):c.1298C>T (p.Ala433Val)
|
|
|
|
NM_007294.4(BRCA1):c.1300A>G (p.Ser434Gly)
|
rs786203753
|
|
|
NM_007294.4(BRCA1):c.1304A>T (p.Asp435Val)
|
rs2053960174
|
|
|
NM_007294.4(BRCA1):c.1307C>A (p.Pro436His)
|
rs2154459839
|
|
|
NM_007294.4(BRCA1):c.1309C>T (p.His437Tyr)
|
rs759878392
|
|
|
NM_007294.4(BRCA1):c.1310A>C (p.His437Pro)
|
rs80357255
|
|
|
NM_007294.4(BRCA1):c.1310A>G (p.His437Arg)
|
rs80357255
|
|
|
NM_007294.4(BRCA1):c.1315G>T (p.Ala439Ser)
|
rs1064794098
|
|
|
NM_007294.4(BRCA1):c.1319T>C (p.Leu440Ser)
|
rs273897656
|
|
|
NM_007294.4(BRCA1):c.1321A>G (p.Ile441Val)
|
rs1567800029
|
|
|
NM_007294.4(BRCA1):c.1322T>C (p.Ile441Thr)
|
rs1163497041
|
|
|
NM_007294.4(BRCA1):c.1323A>G (p.Ile441Met)
|
rs1555591935
|
|
|
NM_007294.4(BRCA1):c.1324T>C (p.Cys442Arg)
|
rs876660734
|
|
|
NM_007294.4(BRCA1):c.1328A>G (p.Lys443Arg)
|
rs2053956439
|
|
|
NM_007294.4(BRCA1):c.1331G>A (p.Ser444Asn)
|
rs1597876749
|
|
|
NM_007294.4(BRCA1):c.1331G>T (p.Ser444Ile)
|
rs1597876749
|
|
|
NM_007294.4(BRCA1):c.1332T>G (p.Ser444Arg)
|
rs1555591925
|
|
|
NM_007294.4(BRCA1):c.1334A>G (p.Glu445Gly)
|
rs1597876729
|
|
|
NM_007294.4(BRCA1):c.1337G>T (p.Arg446Ile)
|
|
|
|
NM_007294.4(BRCA1):c.1339G>A (p.Val447Ile)
|
rs587782784
|
|
|
NM_007294.4(BRCA1):c.135-15C>G
|
rs397507185
|
|
|
NM_007294.4(BRCA1):c.135-5T>C
|
rs587781916
|
|
|
NM_007294.4(BRCA1):c.135-8dup
|
rs397507186
|
|
|
NM_007294.4(BRCA1):c.1355T>A (p.Val452Glu)
|
|
|
|
NM_007294.4(BRCA1):c.1355T>C (p.Val452Ala)
|
rs878854932
|
|
|
NM_007294.4(BRCA1):c.1358A>C (p.Glu453Ala)
|
rs1567799925
|
|
|
NM_007294.4(BRCA1):c.1363A>G (p.Asn455Asp)
|
rs1468740591
|
|
|
NM_007294.4(BRCA1):c.1372G>A (p.Asp458Asn)
|
rs2154450550
|
|
|
NM_007294.4(BRCA1):c.1375A>C (p.Lys459Gln)
|
rs886039947
|
|
|
NM_007294.4(BRCA1):c.1377A>C (p.Lys459Asn)
|
rs2053948858
|
|
|
NM_007294.4(BRCA1):c.1378A>C (p.Ile460Leu)
|
|
|
|
NM_007294.4(BRCA1):c.1385G>A (p.Gly462Glu)
|
rs2053947222
|
|
|
NM_007294.4(BRCA1):c.1387A>G (p.Lys463Glu)
|
rs1135401844
|
|
|
NM_007294.4(BRCA1):c.1391C>T (p.Thr464Ile)
|
rs62625301
|
|
|
NM_007294.4(BRCA1):c.1394A>G (p.Tyr465Cys)
|
rs876659885
|
|
|
NM_007294.4(BRCA1):c.1396C>G (p.Arg466Gly)
|
rs80356964
|
|
|
NM_007294.4(BRCA1):c.1401G>C (p.Lys467Asn)
|
|
|
|
NM_007294.4(BRCA1):c.1405G>A (p.Ala469Thr)
|
rs397507187
|
|
|
NM_007294.4(BRCA1):c.1406C>G (p.Ala469Gly)
|
rs80357073
|
|
|
NM_007294.4(BRCA1):c.1409G>A (p.Ser470Asn)
|
rs1567799713
|
|
|
NM_007294.4(BRCA1):c.1412T>C (p.Leu471Pro)
|
rs1167718207
|
|
|
NM_007294.4(BRCA1):c.1414C>A (p.Pro472Thr)
|
|
|
|
NM_007294.4(BRCA1):c.1418A>C (p.Asn473Thr)
|
rs80357057
|
|
|
NM_007294.4(BRCA1):c.1418A>G (p.Asn473Ser)
|
rs80357057
|
|
|
NM_007294.4(BRCA1):c.1418A>T (p.Asn473Ile)
|
rs80357057
|
|
|
NM_007294.4(BRCA1):c.1424G>T (p.Ser475Ile)
|
|
|
|
NM_007294.4(BRCA1):c.1426C>T (p.His476Tyr)
|
|
|
|
NM_007294.4(BRCA1):c.1435G>A (p.Glu479Lys)
|
rs1064794100
|
|
|
NM_007294.4(BRCA1):c.1435G>C (p.Glu479Gln)
|
rs1064794100
|
|
|
NM_007294.4(BRCA1):c.1436A>G (p.Glu479Gly)
|
rs1597876039
|
|
|
NM_007294.4(BRCA1):c.1438A>C (p.Asn480His)
|
|
|
|
NM_007294.4(BRCA1):c.1438_1452del (p.Asn480_Gly484del)
|
rs1567799598
|
|
|
NM_007294.4(BRCA1):c.1440T>G (p.Asn480Lys)
|
rs2154446030
|
|
|
NM_007294.4(BRCA1):c.1441C>G (p.Leu481Val)
|
rs1397842308
|
|
|
NM_007294.4(BRCA1):c.1442T>C (p.Leu481Pro)
|
rs2053937820
|
|
|
NM_007294.4(BRCA1):c.1450G>A (p.Gly484Arg)
|
rs80357304
|
|
|
NM_007294.4(BRCA1):c.1451G>A (p.Gly484Glu)
|
rs2053936550
|
|
|
NM_007294.4(BRCA1):c.1454C>G (p.Ala485Gly)
|
|
|
|
NM_007294.4(BRCA1):c.1454C>T (p.Ala485Val)
|
|
|
|
NM_007294.4(BRCA1):c.1456T>A (p.Phe486Ile)
|
rs55906931
|
|
|
NM_007294.4(BRCA1):c.1467G>A (p.Glu489=)
|
rs794726997
|
|
|
NM_007294.4(BRCA1):c.1469C>T (p.Pro490Leu)
|
rs876658291
|
|
|
NM_007294.4(BRCA1):c.1471C>G (p.Gln491Glu)
|
rs62625303
|
|
|
NM_007294.4(BRCA1):c.1472A>C (p.Gln491Pro)
|
rs80357376
|
|
|
NM_007294.4(BRCA1):c.1477A>C (p.Ile493Leu)
|
rs2053933371
|
|
|
NM_007294.4(BRCA1):c.1478T>C (p.Ile493Thr)
|
rs1555591707
|
|
|
NM_007294.4(BRCA1):c.1480C>G (p.Gln494Glu)
|
rs80357010
|
|
|
NM_007294.4(BRCA1):c.1484A>C (p.Glu495Ala)
|
rs1567799498
|
|
|
NM_007294.4(BRCA1):c.1485G>T (p.Glu495Asp)
|
|
|
|
NM_007294.4(BRCA1):c.1486C>A (p.Arg496Ser)
|
rs28897676
|
|
|
NM_007294.4(BRCA1):c.1489C>A (p.Pro497Thr)
|
rs1555591695
|
|
|
NM_007294.4(BRCA1):c.1490C>T (p.Pro497Leu)
|
rs1555591693
|
|
|
NM_007294.4(BRCA1):c.1496C>T (p.Thr499Ile)
|
rs876658285
|
|
|
NM_007294.4(BRCA1):c.1499A>G (p.Asn500Ser)
|
rs1555591677
|
|
|
NM_007294.4(BRCA1):c.14C>T (p.Ala5Val)
|
rs1335137805
|
|
|
NM_007294.4(BRCA1):c.1500T>G (p.Asn500Lys)
|
|
|
|
NM_007294.4(BRCA1):c.1501A>C (p.Lys501Gln)
|
rs1064793883
|
|
|
NM_007294.4(BRCA1):c.1502A>C (p.Lys501Thr)
|
rs113656989
|
|
|
NM_007294.4(BRCA1):c.1505T>C (p.Leu502Ser)
|
rs886039957
|
|
|
NM_007294.4(BRCA1):c.1511G>T (p.Arg504Leu)
|
rs56272539
|
|
|
NM_007294.4(BRCA1):c.1513A>G (p.Lys505Glu)
|
rs397508877
|
|
|
NM_007294.4(BRCA1):c.1514A>G (p.Lys505Arg)
|
rs879254266
|
|
|
NM_007294.4(BRCA1):c.1514A>T (p.Lys505Ile)
|
rs879254266
|
|
|
NM_007294.4(BRCA1):c.1520G>T (p.Arg507Ile)
|
rs80357224
|
|
|
NM_007294.4(BRCA1):c.1522C>T (p.Pro508Ser)
|
|
|
|
NM_007294.4(BRCA1):c.1523C>A (p.Pro508His)
|
rs398122637
|
|
|
NM_007294.4(BRCA1):c.1531G>A (p.Gly511Ser)
|
rs1567799248
|
|
|
NM_007294.4(BRCA1):c.1534C>G (p.Leu512Val)
|
rs41286294
|
|
|
NM_007294.4(BRCA1):c.1537C>T (p.His513Tyr)
|
|
|
|
NM_007294.4(BRCA1):c.1538A>C (p.His513Pro)
|
|
|
|
NM_007294.4(BRCA1):c.1540C>A (p.Pro514Thr)
|
rs1555591584
|
|
|
NM_007294.4(BRCA1):c.1540C>T (p.Pro514Ser)
|
|
|
|
NM_007294.4(BRCA1):c.1541C>G (p.Pro514Arg)
|
rs56100707
|
|
|
NM_007294.4(BRCA1):c.1543G>A (p.Glu515Lys)
|
rs886037990
|
|
|
NM_007294.4(BRCA1):c.1546G>C (p.Asp516His)
|
|
|
|
NM_007294.4(BRCA1):c.154C>A (p.Leu52Ile)
|
rs80357084
|
|
|
NM_007294.4(BRCA1):c.1552A>G (p.Ile518Val)
|
rs1597875402
|
|
|
NM_007294.4(BRCA1):c.1553T>C (p.Ile518Thr)
|
rs1567799193
|
|
|
NM_007294.4(BRCA1):c.1557G>C (p.Lys519Asn)
|
rs2154437017
|
|
|
NM_007294.4(BRCA1):c.1562C>G (p.Ala521Gly)
|
|
|
|
NM_007294.4(BRCA1):c.1567T>G (p.Leu523Val)
|
rs754398271
|
|
|
NM_007294.4(BRCA1):c.1568T>G (p.Leu523Trp)
|
rs397508885
|
|
|
NM_007294.4(BRCA1):c.1571C>T (p.Ala524Val)
|
rs80357333
|
|
|
NM_007294.4(BRCA1):c.1573G>C (p.Val525Leu)
|
rs80357273
|
|
|
NM_007294.4(BRCA1):c.1574T>C (p.Val525Ala)
|
rs879253902
|
|
|
NM_007294.4(BRCA1):c.1577A>C (p.Gln526Pro)
|
rs2053917320
|
|
|
NM_007294.4(BRCA1):c.1580A>G (p.Lys527Arg)
|
rs774959350
|
|
|
NM_007294.4(BRCA1):c.1581G>T (p.Lys527Asn)
|
|
|
|
NM_007294.4(BRCA1):c.1589A>G (p.Glu530Gly)
|
rs1555591512
|
|
|
NM_007294.4(BRCA1):c.1589A>T (p.Glu530Val)
|
rs1555591512
|
|
|
NM_007294.4(BRCA1):c.158A>G (p.Asn53Ser)
|
rs1438140067
|
|
|
NM_007294.4(BRCA1):c.1591A>T (p.Met531Leu)
|
rs2053916000
|
|
|
NM_007294.4(BRCA1):c.1594A>T (p.Ile532Leu)
|
rs2053915860
|
|
|
NM_007294.4(BRCA1):c.1601A>G (p.Gln534Arg)
|
rs80357173
|
|
|
NM_007294.4(BRCA1):c.1603G>A (p.Gly535Arg)
|
rs1555591488
|
|
|
NM_007294.4(BRCA1):c.1607C>A (p.Thr536Asn)
|
rs398122638
|
|
|
NM_007294.4(BRCA1):c.1607C>G (p.Thr536Ser)
|
rs398122638
|
|
|
NM_007294.4(BRCA1):c.1607C>T (p.Thr536Ile)
|
rs398122638
|
|
|
NM_007294.4(BRCA1):c.1610A>C (p.Asn537Thr)
|
|
|
|
NM_007294.4(BRCA1):c.1616C>A (p.Thr539Lys)
|
rs80357374
|
|
|
NM_007294.4(BRCA1):c.1618G>A (p.Glu540Lys)
|
rs730881471
|
|
|
NM_007294.4(BRCA1):c.1620G>C (p.Glu540Asp)
|
rs1555591465
|
|
|
NM_007294.4(BRCA1):c.1624A>G (p.Asn542Asp)
|
rs1555591461
|
|
|
NM_007294.4(BRCA1):c.1625A>G (p.Asn542Ser)
|
rs2154433378
|
|
|
NM_007294.4(BRCA1):c.1625A>T (p.Asn542Ile)
|
|
|
|
NM_007294.4(BRCA1):c.1631A>C (p.Gln544Pro)
|
rs397508892
|
|
|
NM_007294.4(BRCA1):c.1631A>T (p.Gln544Leu)
|
rs397508892
|
|
|
NM_007294.4(BRCA1):c.1633G>T (p.Val545Leu)
|
rs1304908704
|
|
|
NM_007294.4(BRCA1):c.1636A>G (p.Met546Val)
|
rs587782390
|
|
|
NM_007294.4(BRCA1):c.1639A>T (p.Asn547Tyr)
|
rs1060502351
|
|
|
NM_007294.4(BRCA1):c.1642A>G (p.Ile548Val)
|
rs80356981
|
|
|
NM_007294.4(BRCA1):c.1649A>G (p.Asn550Ser)
|
rs1064795217
|
|
|
NM_007294.4(BRCA1):c.1651A>G (p.Ser551Gly)
|
rs730881472
|
|
|
NM_007294.4(BRCA1):c.1655G>A (p.Gly552Asp)
|
rs397508893
|
|
|
NM_007294.4(BRCA1):c.1657C>T (p.His553Tyr)
|
rs1176222161
|
|
|
NM_007294.4(BRCA1):c.1658A>C (p.His553Pro)
|
rs748431827
|
|
|
NM_007294.4(BRCA1):c.1660G>A (p.Glu554Lys)
|
|
|
|
NM_007294.4(BRCA1):c.1661A>G (p.Glu554Gly)
|
rs1597874812
|
|
|
NM_007294.4(BRCA1):c.1662G>C (p.Glu554Asp)
|
rs876659028
|
|
|
NM_007294.4(BRCA1):c.1664A>G (p.Asn555Ser)
|
rs2154431398
|
|
|
NM_007294.4(BRCA1):c.1670C>T (p.Thr557Ile)
|
rs1567798771
|
|
|
NM_007294.4(BRCA1):c.1672A>C (p.Lys558Gln)
|
rs397507190
|
|
|
NM_007294.4(BRCA1):c.1673A>T (p.Lys558Ile)
|
|
|
|
NM_007294.4(BRCA1):c.1675G>A (p.Gly559Ser)
|
rs1555591384
|
|
|
NM_007294.4(BRCA1):c.1676G>A (p.Gly559Asp)
|
rs80356980
|
|
|
NM_007294.4(BRCA1):c.1679A>T (p.Asp560Val)
|
rs1567798739
|
|
|
NM_007294.4(BRCA1):c.1684A>G (p.Ile562Val)
|
rs1567798727
|
|
|
NM_007294.4(BRCA1):c.1685T>C (p.Ile562Thr)
|
rs1555591375
|
|
|
NM_007294.4(BRCA1):c.1686T>G (p.Ile562Met)
|
rs1268133978
|
|
|
NM_007294.4(BRCA1):c.1688A>C (p.Gln563Pro)
|
|
|
|
NM_007294.4(BRCA1):c.1690A>C (p.Asn564His)
|
rs397507191
|
|
|
NM_007294.4(BRCA1):c.1694A>C (p.Glu565Ala)
|
|
|
|
NM_007294.4(BRCA1):c.1694A>T (p.Glu565Val)
|
|
|
|
NM_007294.4(BRCA1):c.1696A>G (p.Lys566Glu)
|
rs1597874665
|
|
|
NM_007294.4(BRCA1):c.1700A>C (p.Asn567Thr)
|
rs2053898401
|
|
|
NM_007294.4(BRCA1):c.1703C>T (p.Pro568Leu)
|
rs80356910
|
|
|
NM_007294.4(BRCA1):c.1705A>G (p.Asn569Asp)
|
rs587781315
|
|
|
NM_007294.4(BRCA1):c.1706A>G (p.Asn569Ser)
|
rs1060502329
|
|
|
NM_007294.4(BRCA1):c.1706A>T (p.Asn569Ile)
|
rs1060502329
|
|
|
NM_007294.4(BRCA1):c.1707C>G (p.Asn569Lys)
|
rs876659110
|
|
|
NM_007294.4(BRCA1):c.1709C>A (p.Pro570Gln)
|
rs879254020
|
|
|
NM_007294.4(BRCA1):c.1712T>A (p.Ile571Lys)
|
rs80357159
|
|
|
NM_007294.4(BRCA1):c.1712T>G (p.Ile571Arg)
|
rs80357159
|
|
|
NM_007294.4(BRCA1):c.1714G>A (p.Glu572Lys)
|
rs730881473
|
|
|
NM_007294.4(BRCA1):c.1714G>C (p.Glu572Gln)
|
rs730881473
|
|
|
NM_007294.4(BRCA1):c.1717T>A (p.Ser573Thr)
|
rs876660448
|
|
|
NM_007294.4(BRCA1):c.1717T>C (p.Ser573Pro)
|
rs876660448
|
|
|
NM_007294.4(BRCA1):c.1718C>T (p.Ser573Leu)
|
rs876660434
|
|
|
NM_007294.4(BRCA1):c.1721T>C (p.Leu574Pro)
|
rs1060502341
|
|
|
NM_007294.4(BRCA1):c.1727A>G (p.Lys576Arg)
|
rs2053893835
|
|
|
NM_007294.4(BRCA1):c.172C>A (p.Pro58Thr)
|
rs397508904
|
|
|
NM_007294.4(BRCA1):c.1732T>C (p.Ser578Pro)
|
|
|
|
NM_007294.4(BRCA1):c.1733C>A (p.Ser578Tyr)
|
rs80356939
|
|
|
NM_007294.4(BRCA1):c.1733C>T (p.Ser578Phe)
|
rs80356939
|
|
|
NM_007294.4(BRCA1):c.1735G>C (p.Ala579Pro)
|
|
|
|
NM_007294.4(BRCA1):c.1745C>A (p.Thr582Lys)
|
rs786202386
|
|
|
NM_007294.4(BRCA1):c.1756C>T (p.Pro586Ser)
|
rs80357153
|
|
|
NM_007294.4(BRCA1):c.1757C>G (p.Pro586Arg)
|
rs1064795270
|
|
|
NM_007294.4(BRCA1):c.1757C>T (p.Pro586Leu)
|
rs1064795270
|
|
|
NM_007294.4(BRCA1):c.1759A>G (p.Ile587Val)
|
rs1597874361
|
|
|
NM_007294.4(BRCA1):c.1763G>A (p.Ser588Asn)
|
|
|
|
NM_007294.4(BRCA1):c.1763_1764delinsAA (p.Ser588Lys)
|
rs1555591274
|
|
|
NM_007294.4(BRCA1):c.1763_1764delinsTT (p.Ser588Ile)
|
rs1555591274
|
|
|
NM_007294.4(BRCA1):c.1764C>G (p.Ser588Arg)
|
rs1597874296
|
|
|
NM_007294.4(BRCA1):c.1768A>G (p.Ser590Gly)
|
rs80357454
|
|
|
NM_007294.4(BRCA1):c.1768A>T (p.Ser590Cys)
|
rs80357454
|
|
|
NM_007294.4(BRCA1):c.1769G>A (p.Ser590Asn)
|
rs1060502349
|
|
|
NM_007294.4(BRCA1):c.1771A>G (p.Ile591Val)
|
rs1064795358
|
|
|
NM_007294.4(BRCA1):c.1775G>A (p.Ser592Asn)
|
rs786203044
|
|
|
NM_007294.4(BRCA1):c.1777A>C (p.Asn593His)
|
|
|
|
NM_007294.4(BRCA1):c.1784A>G (p.Glu595Gly)
|
rs876660455
|
|
|
NM_007294.4(BRCA1):c.1786C>G (p.Leu596Val)
|
rs80357371
|
|
|
NM_007294.4(BRCA1):c.1786C>T (p.Leu596Phe)
|
rs80357371
|
|
|
NM_007294.4(BRCA1):c.1787T>C (p.Leu596Pro)
|
rs2053883873
|
|
|
NM_007294.4(BRCA1):c.1792T>G (p.Leu598Val)
|
rs1060504554
|
|
|
NM_007294.4(BRCA1):c.1796A>G (p.Asn599Ser)
|
rs1174268388
|
|
|
NM_007294.4(BRCA1):c.1799T>C (p.Ile600Thr)
|
rs398122643
|
|
|
NM_007294.4(BRCA1):c.1805A>G (p.Asn602Ser)
|
rs1567798189
|
|
|
NM_007294.4(BRCA1):c.1810A>G (p.Lys604Glu)
|
rs2053879900
|
|
|
NM_007294.4(BRCA1):c.1813G>T (p.Ala605Ser)
|
rs587781613
|
|
|
NM_007294.4(BRCA1):c.1819A>G (p.Lys607Glu)
|
rs80357220
|
|
|
NM_007294.4(BRCA1):c.1826A>G (p.Asn609Ser)
|
rs80357236
|
|
|
NM_007294.4(BRCA1):c.1829G>A (p.Arg610Lys)
|
rs876660322
|
|
|
NM_007294.4(BRCA1):c.1837A>G (p.Arg613Gly)
|
rs863224753
|
|
|
NM_007294.4(BRCA1):c.1838G>T (p.Arg613Met)
|
rs786203937
|
|
|
NM_007294.4(BRCA1):c.1841A>C (p.Lys614Thr)
|
|
|
|
NM_007294.4(BRCA1):c.1841A>G (p.Lys614Arg)
|
rs1597873869
|
|
|
NM_007294.4(BRCA1):c.1842G>T (p.Lys614Asn)
|
rs760109939
|
|
|
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del)
|
rs80358329
|
|
|
NM_007294.4(BRCA1):c.1844C>T (p.Ser615Phe)
|
rs398122645
|
|
|
NM_007294.4(BRCA1):c.1849A>G (p.Thr617Ala)
|
rs45564238
|
|
|
NM_007294.4(BRCA1):c.1853G>A (p.Arg618Lys)
|
rs876659527
|
|
|
NM_007294.4(BRCA1):c.1853G>C (p.Arg618Thr)
|
rs876659527
|
|
|
NM_007294.4(BRCA1):c.1854G>T (p.Arg618Ser)
|
rs1060504585
|
|
|
NM_007294.4(BRCA1):c.1855C>T (p.His619Tyr)
|
rs773212667
|
|
|
NM_007294.4(BRCA1):c.1856A>G (p.His619Arg)
|
rs771890863
|
|
|
NM_007294.4(BRCA1):c.1859T>A (p.Ile620Asn)
|
rs1555591085
|
|
|
NM_007294.4(BRCA1):c.1859T>C (p.Ile620Thr)
|
|
|
|
NM_007294.4(BRCA1):c.1861C>T (p.His621Tyr)
|
rs1597873711
|
|
|
NM_007294.4(BRCA1):c.1865C>G (p.Ala622Gly)
|
rs56039126
|
|
|
NM_007294.4(BRCA1):c.1866G>T (p.Ala622=)
|
rs1800064
|
|
|
NM_007294.4(BRCA1):c.1877T>A (p.Val626Glu)
|
|
|
|
NM_007294.4(BRCA1):c.1882A>G (p.Ser628Gly)
|
rs1555591000
|
|
|
NM_007294.4(BRCA1):c.1884T>G (p.Ser628Arg)
|
rs80357495
|
|
|
NM_007294.4(BRCA1):c.1886G>T (p.Arg629Ile)
|
rs876660144
|
|
|
NM_007294.4(BRCA1):c.1888A>T (p.Asn630Tyr)
|
rs1597873547
|
|
|
NM_007294.4(BRCA1):c.1891C>A (p.Leu631Ile)
|
rs876659175
|
|
|
NM_007294.4(BRCA1):c.1893A>G (p.Leu631=)
|
rs80356834
|
|
|
NM_007294.4(BRCA1):c.1895G>A (p.Ser632Asn)
|
rs80356983
|
|
|
NM_007294.4(BRCA1):c.189A>T (p.Leu63Phe)
|
rs80356956
|
|
|
NM_007294.4(BRCA1):c.1900C>T (p.Pro634Ser)
|
rs80357056
|
|
|
NM_007294.4(BRCA1):c.1903A>G (p.Asn635Asp)
|
rs1567797783
|
|
|
NM_007294.4(BRCA1):c.1904A>G (p.Asn635Ser)
|
rs1597873443
|
|
|
NM_007294.4(BRCA1):c.1905T>G (p.Asn635Lys)
|
rs369373293
|
|
|
NM_007294.4(BRCA1):c.1907G>C (p.Cys636Ser)
|
rs398122649
|
|
|
NM_007294.4(BRCA1):c.1907G>T (p.Cys636Phe)
|
rs398122649
|
|
|
NM_007294.4(BRCA1):c.1910C>G (p.Thr637Ser)
|
rs1555590925
|
|
|
NM_007294.4(BRCA1):c.1910C>T (p.Thr637Ile)
|
rs1555590925
|
|
|
NM_007294.4(BRCA1):c.1912G>A (p.Glu638Lys)
|
rs80357005
|
|
|
NM_007294.4(BRCA1):c.1913A>C (p.Glu638Ala)
|
rs786201944
|
|
|
NM_007294.4(BRCA1):c.1917G>T (p.Leu639Phe)
|
rs786202103
|
|
|
NM_007294.4(BRCA1):c.1919A>C (p.Gln640Pro)
|
rs786203965
|
|
|
NM_007294.4(BRCA1):c.1920A>C (p.Gln640His)
|
rs587782843
|
|
|
NM_007294.4(BRCA1):c.1924G>A (p.Asp642Asn)
|
rs80357344
|
|
|
NM_007294.4(BRCA1):c.1925A>G (p.Asp642Gly)
|
rs786204049
|
|
|
NM_007294.4(BRCA1):c.1928G>T (p.Ser643Ile)
|
rs876660335
|
|
|
NM_007294.4(BRCA1):c.1930T>A (p.Cys644Ser)
|
rs753521391
|
|
|
NM_007294.4(BRCA1):c.1931G>C (p.Cys644Ser)
|
rs876658606
|
|
|
NM_007294.4(BRCA1):c.1931G>T (p.Cys644Phe)
|
rs876658606
|
|
|
NM_007294.4(BRCA1):c.1937G>A (p.Ser646Asn)
|
rs2053857094
|
|
|
NM_007294.4(BRCA1):c.1945G>C (p.Glu649Gln)
|
rs80356907
|
|
|
NM_007294.4(BRCA1):c.1948A>G (p.Ile650Val)
|
|
|
|
NM_007294.4(BRCA1):c.1949T>G (p.Ile650Arg)
|
rs1555590816
|
|
|
NM_007294.4(BRCA1):c.1951A>C (p.Lys651Gln)
|
rs1555590804
|
|
|
NM_007294.4(BRCA1):c.1951A>G (p.Lys651Glu)
|
rs1555590804
|
|
|
NM_007294.4(BRCA1):c.1954A>G (p.Lys652Glu)
|
rs1567797589
|
|
|
NM_007294.4(BRCA1):c.1960A>C (p.Lys654Gln)
|
rs80357355
|
|
|
NM_007294.4(BRCA1):c.1963_1964delinsAT (p.Tyr655Ile)
|
rs1567797539
|
|
|
NM_007294.4(BRCA1):c.1964A>G (p.Tyr655Cys)
|
|
|
|
NM_007294.4(BRCA1):c.1967A>G (p.Asn656Ser)
|
rs397508925
|
|
|
NM_007294.4(BRCA1):c.1975C>G (p.Pro659Ala)
|
rs587776481
|
|
|
NM_007294.4(BRCA1):c.1975C>T (p.Pro659Ser)
|
|
|
|
NM_007294.4(BRCA1):c.1976C>G (p.Pro659Arg)
|
rs1258526903
|
|
|
NM_007294.4(BRCA1):c.1978G>A (p.Val660Ile)
|
rs876660889
|
|
|
NM_007294.4(BRCA1):c.1978G>T (p.Val660Phe)
|
rs876660889
|
|
|
NM_007294.4(BRCA1):c.1979T>C (p.Val660Ala)
|
rs1567797385
|
|
|
NM_007294.4(BRCA1):c.1981A>G (p.Arg661Gly)
|
rs1555590724
|
|
|
NM_007294.4(BRCA1):c.1982G>T (p.Arg661Met)
|
|
|
|
NM_007294.4(BRCA1):c.1983G>A (p.Arg661=)
|
rs869320788
|
|
|
NM_007294.4(BRCA1):c.1984C>T (p.His662Tyr)
|
rs397508927
|
|
|
NM_007294.4(BRCA1):c.1995C>G (p.Asn665Lys)
|
rs80357238
|
|
|
NM_007294.4(BRCA1):c.1996C>A (p.Leu666Ile)
|
rs1555590709
|
|
|
NM_007294.4(BRCA1):c.1996C>G (p.Leu666Val)
|
rs1555590709
|
|
|
NM_007294.4(BRCA1):c.2005A>C (p.Met669Leu)
|
|
|
|
NM_007294.4(BRCA1):c.2014A>G (p.Lys672Glu)
|
rs397508929
|
|
|
NM_007294.4(BRCA1):c.2020C>A (p.Pro674Thr)
|
|
|
|
NM_007294.4(BRCA1):c.2021C>G (p.Pro674Arg)
|
rs876660543
|
|
|
NM_007294.4(BRCA1):c.2026A>G (p.Thr676Ala)
|
rs1268006720
|
|
|
NM_007294.4(BRCA1):c.2027C>T (p.Thr676Ile)
|
rs1597872628
|
|
|
NM_007294.4(BRCA1):c.2038A>G (p.Lys680Glu)
|
rs1135401850
|
|
|
NM_007294.4(BRCA1):c.2039A>G (p.Lys680Arg)
|
rs730881475
|
|
|
NM_007294.4(BRCA1):c.2042G>A (p.Ser681Asn)
|
rs1452826319
|
|
|
NM_007294.4(BRCA1):c.2044A>G (p.Asn682Asp)
|
|
|
|
NM_007294.4(BRCA1):c.2047A>G (p.Lys683Glu)
|
|
|
|
NM_007294.4(BRCA1):c.2050C>A (p.Pro684Thr)
|
rs397508934
|
|
|
NM_007294.4(BRCA1):c.2051C>T (p.Pro684Leu)
|
|
|
|
NM_007294.4(BRCA1):c.2058A>T (p.Glu686Asp)
|
rs1262148583
|
|
|
NM_007294.4(BRCA1):c.2060A>G (p.Gln687Arg)
|
|
|
|
NM_007294.4(BRCA1):c.2061G>C (p.Gln687His)
|
|
|
|
NM_007294.4(BRCA1):c.2062A>G (p.Thr688Ala)
|
rs1597872432
|
|
|
NM_007294.4(BRCA1):c.2063C>G (p.Thr688Arg)
|
|
|
|
NM_007294.4(BRCA1):c.2065A>G (p.Ser689Gly)
|
rs876660188
|
|
|
NM_007294.4(BRCA1):c.2071A>G (p.Arg691Gly)
|
rs1597872365
|
|
|
NM_007294.4(BRCA1):c.2075A>C (p.His692Pro)
|
rs2053831947
|
|
|
NM_007294.4(BRCA1):c.2075A>G (p.His692Arg)
|
|
|
|
NM_007294.4(BRCA1):c.2076T>A (p.His692Gln)
|
rs587782595
|
|
|
NM_007294.4(BRCA1):c.2079C>T (p.Asp693=)
|
rs80356835
|
|
|
NM_007294.4(BRCA1):c.2081G>A (p.Ser694Asn)
|
rs431825388
|
|
|
NM_007294.4(BRCA1):c.2083G>A (p.Asp695Asn)
|
rs28897681
|
|
|
NM_007294.4(BRCA1):c.2083G>T (p.Asp695Tyr)
|
rs28897681
|
|
|
NM_007294.4(BRCA1):c.2084A>G (p.Asp695Gly)
|
|
|
|
NM_007294.4(BRCA1):c.2090T>A (p.Phe697Tyr)
|
rs730881476
|
|
|
NM_007294.4(BRCA1):c.2090T>C (p.Phe697Ser)
|
rs730881476
|
|
|
NM_007294.4(BRCA1):c.2090T>G (p.Phe697Cys)
|
|
|
|
NM_007294.4(BRCA1):c.2091C>G (p.Phe697Leu)
|
|
|
|
NM_007294.4(BRCA1):c.2093C>T (p.Pro698Leu)
|
rs1555590478
|
|
|
NM_007294.4(BRCA1):c.2095G>C (p.Glu699Gln)
|
rs876658306
|
|
|
NM_007294.4(BRCA1):c.2096A>G (p.Glu699Gly)
|
rs1597872173
|
|
|
NM_007294.4(BRCA1):c.2098C>G (p.Leu700Val)
|
rs775424259
|
|
|
NM_007294.4(BRCA1):c.2099T>A (p.Leu700Gln)
|
rs1567797015
|
|
|
NM_007294.4(BRCA1):c.2099T>C (p.Leu700Pro)
|
rs1567797015
|
|
|
NM_007294.4(BRCA1):c.2102A>G (p.Lys701Arg)
|
rs876658307
|
|
|
NM_007294.4(BRCA1):c.2103G>A (p.Lys701=)
|
rs273898677
|
|
|
NM_007294.4(BRCA1):c.2107A>G (p.Thr703Ala)
|
rs2053825384
|
|
|
NM_007294.4(BRCA1):c.2110A>C (p.Asn704His)
|
rs1597872096
|
|
|
NM_007294.4(BRCA1):c.2110A>G (p.Asn704Asp)
|
|
|
|
NM_007294.4(BRCA1):c.2111A>G (p.Asn704Ser)
|
rs2053824395
|
|
|
NM_007294.4(BRCA1):c.2113G>A (p.Ala705Thr)
|
rs1597872085
|
|
|
NM_007294.4(BRCA1):c.2116C>T (p.Pro706Ser)
|
rs1597872071
|
|
|
NM_007294.4(BRCA1):c.2117C>T (p.Pro706Leu)
|
rs759655692
|
|
|
NM_007294.4(BRCA1):c.2119G>T (p.Gly707Cys)
|
|
|
|
NM_007294.4(BRCA1):c.212+10T>G
|
rs80358174
|
|
|
NM_007294.4(BRCA1):c.2120G>A (p.Gly707Asp)
|
rs80357192
|
|
|
NM_007294.4(BRCA1):c.2123C>G (p.Ser708Cys)
|
rs80357182
|
|
|
NM_007294.4(BRCA1):c.2126T>C (p.Phe709Ser)
|
rs1567796937
|
|
|
NM_007294.4(BRCA1):c.2128A>G (p.Thr710Ala)
|
rs876659959
|
|
|
NM_007294.4(BRCA1):c.2129C>T (p.Thr710Ile)
|
rs2053820830
|
|
|
NM_007294.4(BRCA1):c.2130T>G (p.Thr710=)
|
rs273898678
|
|
|
NM_007294.4(BRCA1):c.2131A>G (p.Lys711Glu)
|
rs747046197
|
|
|
NM_007294.4(BRCA1):c.2134T>C (p.Cys712Arg)
|
rs786202015
|
|
|
NM_007294.4(BRCA1):c.2135G>T (p.Cys712Phe)
|
rs1555590395
|
|
|
NM_007294.4(BRCA1):c.2140A>C (p.Asn714His)
|
rs568312345
|
|
|
NM_007294.4(BRCA1):c.2140A>G (p.Asn714Asp)
|
rs568312345
|
|
|
NM_007294.4(BRCA1):c.2144C>G (p.Thr715Ser)
|
rs2053817641
|
|
|
NM_007294.4(BRCA1):c.2146A>G (p.Ser716Gly)
|
rs2053817086
|
|
|
NM_007294.4(BRCA1):c.2153T>G (p.Leu718Arg)
|
rs748550848
|
|
|
NM_007294.4(BRCA1):c.2156A>C (p.Lys719Thr)
|
rs876660920
|
|
|
NM_007294.4(BRCA1):c.2158G>C (p.Glu720Gln)
|
rs80356875
|
|
|
NM_007294.4(BRCA1):c.2168A>G (p.Asn723Ser)
|
|
|
|
NM_007294.4(BRCA1):c.216C>A (p.Ser72Arg)
|
rs80356967
|
|
|
NM_007294.4(BRCA1):c.2170_2172delinsTCC (p.Pro724Ser)
|
|
|
|
NM_007294.4(BRCA1):c.2173A>G (p.Ser725Gly)
|
rs1555590290
|
|
|
NM_007294.4(BRCA1):c.2175C>T (p.Ser725=)
|
rs273898680
|
|
|
NM_007294.4(BRCA1):c.2185G>A (p.Glu729Lys)
|
rs876659852
|
|
|
NM_007294.4(BRCA1):c.2194G>A (p.Glu732Lys)
|
|
|
|
NM_007294.4(BRCA1):c.2195A>G (p.Glu732Gly)
|
rs876660463
|
|
|
NM_007294.4(BRCA1):c.2203C>G (p.Leu735Val)
|
rs587781781
|
|
|
NM_007294.4(BRCA1):c.2206G>A (p.Glu736Lys)
|
|
|
|
NM_007294.4(BRCA1):c.2209A>G (p.Thr737Ala)
|
rs1567796585
|
|
|
NM_007294.4(BRCA1):c.2215A>C (p.Lys739Gln)
|
rs56329598
|
|
|
NM_007294.4(BRCA1):c.2218G>A (p.Val740Met)
|
rs80357415
|
|
|
NM_007294.4(BRCA1):c.2218G>C (p.Val740Leu)
|
rs80357415
|
|
|
NM_007294.4(BRCA1):c.2218G>T (p.Val740Leu)
|
rs80357415
|
|
|
NM_007294.4(BRCA1):c.2227A>C (p.Asn743His)
|
rs1212635015
|
|
|
NM_007294.4(BRCA1):c.2228A>G (p.Asn743Ser)
|
rs1567796489
|
|
|
NM_007294.4(BRCA1):c.2230G>C (p.Ala744Pro)
|
|
|
|
NM_007294.4(BRCA1):c.2231C>A (p.Ala744Asp)
|
rs786204220
|
|
|
NM_007294.4(BRCA1):c.2232T>C (p.Ala744=)
|
rs4986846
|
|
|
NM_007294.4(BRCA1):c.2235A>C (p.Glu745Asp)
|
rs876660266
|
|
|
NM_007294.4(BRCA1):c.2235_2236inv (p.Glu745_Asp746delinsAspTyr)
|
|
|
|
NM_007294.4(BRCA1):c.2236G>T (p.Asp746Tyr)
|
rs876660267
|
|
|
NM_007294.4(BRCA1):c.2237A>C (p.Asp746Ala)
|
rs2154388675
|
|
|
NM_007294.4(BRCA1):c.2238C>A (p.Asp746Glu)
|
rs786202757
|
|
|
NM_007294.4(BRCA1):c.2239C>T (p.Pro747Ser)
|
rs1555590087
|
|
|
NM_007294.4(BRCA1):c.2240C>T (p.Pro747Leu)
|
|
|
|
NM_007294.4(BRCA1):c.2243A>G (p.Lys748Arg)
|
rs1567796448
|
|
|
NM_007294.4(BRCA1):c.2245G>A (p.Asp749Asn)
|
rs80357114
|
|
|
NM_007294.4(BRCA1):c.2245G>T (p.Asp749Tyr)
|
rs80357114
|
|
|
NM_007294.4(BRCA1):c.2248C>A (p.Leu750Ile)
|
rs2053794986
|
|
|
NM_007294.4(BRCA1):c.2249T>C (p.Leu750Pro)
|
rs1555590048
|
|
|
NM_007294.4(BRCA1):c.2258G>A (p.Ser753Asn)
|
rs878854939
|
|
|
NM_007294.4(BRCA1):c.2258G>C (p.Ser753Thr)
|
|
|
|
NM_007294.4(BRCA1):c.2259T>G (p.Ser753Arg)
|
rs730881480
|
|
|
NM_007294.4(BRCA1):c.2260G>A (p.Gly754Arg)
|
|
|
|
NM_007294.4(BRCA1):c.2264A>C (p.Glu755Ala)
|
rs922908090
|
|
|
NM_007294.4(BRCA1):c.2266A>G (p.Arg756Gly)
|
rs1064795091
|
|
|
NM_007294.4(BRCA1):c.2267G>A (p.Arg756Lys)
|
rs975724885
|
|
|
NM_007294.4(BRCA1):c.2268G>T (p.Arg756Ser)
|
rs80356884
|
|
|
NM_007294.4(BRCA1):c.2278A>G (p.Thr760Ala)
|
|
|
|
NM_007294.4(BRCA1):c.2281G>A (p.Glu761Lys)
|
rs397507198
|
|
|
NM_007294.4(BRCA1):c.2282A>C (p.Glu761Ala)
|
rs80356869
|
|
|
NM_007294.4(BRCA1):c.2282A>G (p.Glu761Gly)
|
|
|
|
NM_007294.4(BRCA1):c.2283A>C (p.Glu761Asp)
|
rs1567796302
|
|
|
NM_007294.4(BRCA1):c.2288C>A (p.Ser763Tyr)
|
rs876660112
|
|
|
NM_007294.4(BRCA1):c.2288C>G (p.Ser763Cys)
|
rs876660112
|
|
|
NM_007294.4(BRCA1):c.2290G>A (p.Val764Ile)
|
rs768904580
|
|
|
NM_007294.4(BRCA1):c.2296A>C (p.Ser766Arg)
|
rs398122655
|
|
|
NM_007294.4(BRCA1):c.2296A>G (p.Ser766Gly)
|
rs398122655
|
|
|
NM_007294.4(BRCA1):c.2298T>A (p.Ser766Arg)
|
rs1597870899
|
|
|
NM_007294.4(BRCA1):c.2299A>T (p.Ser767Cys)
|
rs80357194
|
|
|
NM_007294.4(BRCA1):c.2300G>C (p.Ser767Thr)
|
rs1567796202
|
|
|
NM_007294.4(BRCA1):c.2302A>G (p.Ser768Gly)
|
rs398122656
|
|
|
NM_007294.4(BRCA1):c.2303G>A (p.Ser768Asn)
|
rs1597870869
|
|
|
NM_007294.4(BRCA1):c.2318C>G (p.Pro773Arg)
|
|
|
|
NM_007294.4(BRCA1):c.231G>T (p.Thr77=)
|
rs80356847
|
|
|
NM_007294.4(BRCA1):c.2329T>C (p.Tyr777His)
|
rs397507199
|
|
|
NM_007294.4(BRCA1):c.2330A>T (p.Tyr777Phe)
|
|
|
|
NM_007294.4(BRCA1):c.2333G>A (p.Gly778Asp)
|
rs730881483
|
|
|
NM_007294.4(BRCA1):c.2336C>T (p.Thr779Ile)
|
rs2154382857
|
|
|
NM_007294.4(BRCA1):c.2338C>G (p.Gln780Glu)
|
rs80356945
|
|
|
NM_007294.4(BRCA1):c.2341G>C (p.Glu781Gln)
|
rs757933953
|
|
|
NM_007294.4(BRCA1):c.2342A>C (p.Glu781Ala)
|
rs587776482
|
|
|
NM_007294.4(BRCA1):c.2345G>T (p.Ser782Ile)
|
rs1567796012
|
|
|
NM_007294.4(BRCA1):c.2346T>A (p.Ser782Arg)
|
rs1555589837
|
|
|
NM_007294.4(BRCA1):c.2350T>G (p.Ser784Ala)
|
rs80357399
|
|
|
NM_007294.4(BRCA1):c.2355A>C (p.Leu785Phe)
|
rs1567795966
|
|
|
NM_007294.4(BRCA1):c.2357T>A (p.Leu786Gln)
|
rs760864137
|
|
|
NM_007294.4(BRCA1):c.2357T>C (p.Leu786Pro)
|
rs760864137
|
|
|
NM_007294.4(BRCA1):c.2359G>A (p.Glu787Lys)
|
|
|
|
NM_007294.4(BRCA1):c.2359G>C (p.Glu787Gln)
|
rs1288796003
|
|
|
NM_007294.4(BRCA1):c.2371C>G (p.Leu791Val)
|
rs1567795916
|
|
|
NM_007294.4(BRCA1):c.2372T>G (p.Leu791Arg)
|
rs774730386
|
|
|
NM_007294.4(BRCA1):c.2380G>T (p.Ala794Ser)
|
|
|
|
NM_007294.4(BRCA1):c.2381C>T (p.Ala794Val)
|
rs7502059
|
|
|
NM_007294.4(BRCA1):c.2383A>G (p.Lys795Glu)
|
rs1567795889
|
|
|
NM_007294.4(BRCA1):c.2389G>C (p.Glu797Gln)
|
rs62625306
|
|
|
NM_007294.4(BRCA1):c.2392C>A (p.Pro798Thr)
|
rs398122658
|
|
|
NM_007294.4(BRCA1):c.2393C>G (p.Pro798Arg)
|
rs876660005
|
|
|
NM_007294.4(BRCA1):c.2396A>G (p.Asn799Ser)
|
rs587782027
|
|
|
NM_007294.4(BRCA1):c.2397T>A (p.Asn799Lys)
|
rs80357203
|
|
|
NM_007294.4(BRCA1):c.2399A>C (p.Lys800Thr)
|
|
|
|
NM_007294.4(BRCA1):c.2401T>C (p.Cys801Arg)
|
rs1064793591
|
|
|
NM_007294.4(BRCA1):c.2402G>A (p.Cys801Tyr)
|
rs1567795821
|
|
|
NM_007294.4(BRCA1):c.2402G>C (p.Cys801Ser)
|
|
|
|
NM_007294.4(BRCA1):c.2402G>T (p.Cys801Phe)
|
rs1567795821
|
|
|
NM_007294.4(BRCA1):c.2403T>G (p.Cys801Trp)
|
rs80357381
|
|
|
NM_007294.4(BRCA1):c.2404G>T (p.Val802Leu)
|
rs876660885
|
|
|
NM_007294.4(BRCA1):c.2410C>G (p.Gln804Glu)
|
rs80356982
|
|
|
NM_007294.4(BRCA1):c.2419G>A (p.Ala807Thr)
|
rs80357240
|
|
|
NM_007294.4(BRCA1):c.2419G>T (p.Ala807Ser)
|
rs80357240
|
|
|
NM_007294.4(BRCA1):c.2420C>A (p.Ala807Glu)
|
rs273899683
|
|
|
NM_007294.4(BRCA1):c.2423T>C (p.Phe808Ser)
|
rs398122660
|
|
|
NM_007294.4(BRCA1):c.2425G>C (p.Glu809Gln)
|
|
|
|
NM_007294.4(BRCA1):c.2426A>C (p.Glu809Ala)
|
|
|
|
NM_007294.4(BRCA1):c.2426A>G (p.Glu809Gly)
|
rs397507201
|
|
|
NM_007294.4(BRCA1):c.2434A>G (p.Lys812Glu)
|
|
|
|
NM_007294.4(BRCA1):c.2435A>G (p.Lys812Arg)
|
rs2053760679
|
|
|
NM_007294.4(BRCA1):c.2437G>A (p.Gly813Arg)
|
rs80357186
|
|
|
NM_007294.4(BRCA1):c.2446C>A (p.His816Asn)
|
rs1597869935
|
|
|
NM_007294.4(BRCA1):c.2446C>G (p.His816Asp)
|
|
|
|
NM_007294.4(BRCA1):c.2449G>A (p.Gly817Ser)
|
rs1555589646
|
|
|
NM_007294.4(BRCA1):c.2450G>T (p.Gly817Val)
|
rs1060502365
|
|
|
NM_007294.4(BRCA1):c.2452T>G (p.Cys818Gly)
|
|
|
|
NM_007294.4(BRCA1):c.2456C>G (p.Ser819Cys)
|
rs192655097
|
|
|
NM_007294.4(BRCA1):c.2462A>T (p.Asp821Val)
|
|
|
|
NM_007294.4(BRCA1):c.2465A>G (p.Asn822Ser)
|
rs1555589630
|
|
|
NM_007294.4(BRCA1):c.2468G>C (p.Arg823Thr)
|
rs876659731
|
|
|
NM_007294.4(BRCA1):c.2470A>C (p.Asn824His)
|
rs1555589617
|
|
|
NM_007294.4(BRCA1):c.2471A>G (p.Asn824Ser)
|
rs1485586275
|
|
|
NM_007294.4(BRCA1):c.2471A>T (p.Asn824Ile)
|
rs1485586275
|
|
|
NM_007294.4(BRCA1):c.2476A>C (p.Thr826Pro)
|
rs1597869768
|
|
|
NM_007294.4(BRCA1):c.2479G>C (p.Glu827Gln)
|
rs1597869731
|
|
|
NM_007294.4(BRCA1):c.2481A>C (p.Glu827Asp)
|
rs397508970
|
|
|
NM_007294.4(BRCA1):c.2482G>A (p.Gly828Ser)
|
rs80357185
|
|
|
NM_007294.4(BRCA1):c.2483G>T (p.Gly828Val)
|
rs1555589578
|
|
|
NM_007294.4(BRCA1):c.2489A>G (p.Lys830Arg)
|
rs1597869641
|
|
|
NM_007294.4(BRCA1):c.2489A>T (p.Lys830Met)
|
rs1597869641
|
|
|
NM_007294.4(BRCA1):c.2490G>T (p.Lys830Asn)
|
|
|
|
NM_007294.4(BRCA1):c.2491T>C (p.Tyr831His)
|
rs1060502350
|
|
|
NM_007294.4(BRCA1):c.2491T>G (p.Tyr831Asp)
|
rs1060502350
|
|
|
NM_007294.4(BRCA1):c.2501G>A (p.Gly834Glu)
|
rs757383244
|
|
|
NM_007294.4(BRCA1):c.2501G>T (p.Gly834Val)
|
rs757383244
|
|
|
NM_007294.4(BRCA1):c.2504A>C (p.His835Pro)
|
rs765157365
|
|
|
NM_007294.4(BRCA1):c.2504A>G (p.His835Arg)
|
|
|
|
NM_007294.4(BRCA1):c.2514C>A (p.Asn838Lys)
|
|
|
|
NM_007294.4(BRCA1):c.2516A>G (p.His839Arg)
|
rs1050289746
|
|
|
NM_007294.4(BRCA1):c.2518A>C (p.Ser840Arg)
|
rs377475866
|
|
|
NM_007294.4(BRCA1):c.2518A>T (p.Ser840Cys)
|
rs377475866
|
|
|
NM_007294.4(BRCA1):c.2522G>C (p.Arg841Pro)
|
rs80357337
|
|
|
NM_007294.4(BRCA1):c.2522G>T (p.Arg841Leu)
|
|
|
|
NM_007294.4(BRCA1):c.2524G>A (p.Glu842Lys)
|
rs876658552
|
|
|
NM_007294.4(BRCA1):c.2527A>G (p.Thr843Ala)
|
rs80357435
|
|
|
NM_007294.4(BRCA1):c.2528C>G (p.Thr843Arg)
|
rs1555589466
|
|
|
NM_007294.4(BRCA1):c.2530A>G (p.Ser844Gly)
|
|
|
|
NM_007294.4(BRCA1):c.2531G>A (p.Ser844Asn)
|
rs56051266
|
|
|
NM_007294.4(BRCA1):c.2533A>G (p.Ile845Val)
|
|
|
|
NM_007294.4(BRCA1):c.2534T>C (p.Ile845Thr)
|
rs397508976
|
|
|
NM_007294.4(BRCA1):c.2535A>G (p.Ile845Met)
|
rs876660248
|
|
|
NM_007294.4(BRCA1):c.2536G>A (p.Glu846Lys)
|
rs786203523
|
|
|
NM_007294.4(BRCA1):c.2538A>C (p.Glu846Asp)
|
rs1567795266
|
|
|
NM_007294.4(BRCA1):c.2539A>G (p.Met847Val)
|
rs1555589446
|
|
|
NM_007294.4(BRCA1):c.2546A>G (p.Glu849Gly)
|
rs1567795227
|
|
|
NM_007294.4(BRCA1):c.2552A>G (p.Glu851Gly)
|
rs1567795186
|
|
|
NM_007294.4(BRCA1):c.2554C>G (p.Leu852Val)
|
rs863224754
|
|
|
NM_007294.4(BRCA1):c.2558A>T (p.Asp853Val)
|
rs2154371171
|
|
|
NM_007294.4(BRCA1):c.2560G>C (p.Ala854Pro)
|
|
|
|
NM_007294.4(BRCA1):c.2561C>T (p.Ala854Val)
|
rs80357315
|
|
|
NM_007294.4(BRCA1):c.2564A>G (p.Gln855Arg)
|
rs768001441
|
|
|
NM_007294.4(BRCA1):c.2568T>C (p.Tyr856=)
|
rs80356832
|
|
|
NM_007294.4(BRCA1):c.2573A>G (p.Gln858Arg)
|
|
|
|
NM_007294.4(BRCA1):c.2575A>G (p.Asn859Asp)
|
rs1555589354
|
|
|
NM_007294.4(BRCA1):c.2576A>G (p.Asn859Ser)
|
rs1597869096
|
|
|
NM_007294.4(BRCA1):c.2578A>G (p.Thr860Ala)
|
rs373207084
|
|
|
NM_007294.4(BRCA1):c.2582T>G (p.Phe861Cys)
|
rs80357098
|
|
|
NM_007294.4(BRCA1):c.2585A>G (p.Lys862Arg)
|
rs2053734181
|
|
|
NM_007294.4(BRCA1):c.2586G>C (p.Lys862Asn)
|
rs1555589330
|
|
|
NM_007294.4(BRCA1):c.2587G>A (p.Val863Ile)
|
rs1555589325
|
|
|
NM_007294.4(BRCA1):c.2588T>C (p.Val863Ala)
|
|
|
|
NM_007294.4(BRCA1):c.2590T>G (p.Ser864Ala)
|
rs80357285
|
|
|
NM_007294.4(BRCA1):c.2591C>T (p.Ser864Leu)
|
rs80357003
|
|
|
NM_007294.4(BRCA1):c.2595G>C (p.Lys865Asn)
|
rs1268762258
|
|
|
NM_007294.4(BRCA1):c.2600A>G (p.Gln867Arg)
|
rs397508985
|
|
|
NM_007294.4(BRCA1):c.2608G>A (p.Ala870Thr)
|
rs753256448
|
|
|
NM_007294.4(BRCA1):c.2608G>C (p.Ala870Pro)
|
rs753256448
|
|
|
NM_007294.4(BRCA1):c.2609C>G (p.Ala870Gly)
|
rs1060502324
|
|
|
NM_007294.4(BRCA1):c.2611_2612delinsGT (p.Pro871Val)
|
rs1064793056
|
|
|
NM_007294.4(BRCA1):c.2612C>A (p.Pro871Gln)
|
rs799917
|
|
|
NM_007294.4(BRCA1):c.2612C>G (p.Pro871Arg)
|
rs799917
|
|
|
NM_007294.4(BRCA1):c.2615T>C (p.Phe872Ser)
|
rs1597868786
|
|
|
NM_007294.4(BRCA1):c.2618C>T (p.Ser873Leu)
|
rs1567794912
|
|
|
NM_007294.4(BRCA1):c.2619A>T (p.Ser873=)
|
rs1597868763
|
|
|
NM_007294.4(BRCA1):c.2620A>C (p.Asn874His)
|
rs1064795862
|
|
|
NM_007294.4(BRCA1):c.2620A>G (p.Asn874Asp)
|
rs1064795862
|
|
|
NM_007294.4(BRCA1):c.2623C>G (p.Pro875Ala)
|
|
|
|
NM_007294.4(BRCA1):c.2623C>T (p.Pro875Ser)
|
rs866257451
|
|
|
NM_007294.4(BRCA1):c.2626G>A (p.Gly876Arg)
|
rs1567794885
|
|
|
NM_007294.4(BRCA1):c.2627_2628delinsTT (p.Gly876Val)
|
|
|
|
NM_007294.4(BRCA1):c.2633C>T (p.Ala878Val)
|
rs1555589255
|
|
|
NM_007294.4(BRCA1):c.2638G>C (p.Glu880Gln)
|
rs587782370
|
|
|
NM_007294.4(BRCA1):c.2644T>A (p.Cys882Ser)
|
rs184374817
|
|
|
NM_007294.4(BRCA1):c.2644T>C (p.Cys882Arg)
|
rs184374817
|
|
|
NM_007294.4(BRCA1):c.2645G>A (p.Cys882Tyr)
|
rs1555589241
|
|
|
NM_007294.4(BRCA1):c.2647G>A (p.Ala883Thr)
|
rs1597868632
|
|
|
NM_007294.4(BRCA1):c.2648C>T (p.Ala883Val)
|
rs431825391
|
|
|
NM_007294.4(BRCA1):c.2650A>G (p.Thr884Ala)
|
rs80357120
|
|
|
NM_007294.4(BRCA1):c.2663A>C (p.His888Pro)
|
rs876658843
|
|
|
NM_007294.4(BRCA1):c.2663A>G (p.His888Arg)
|
rs876658843
|
|
|
NM_007294.4(BRCA1):c.2663A>T (p.His888Leu)
|
rs876658843
|
|
|
NM_007294.4(BRCA1):c.2668G>A (p.Gly890Arg)
|
rs80357200
|
|
|
NM_007294.4(BRCA1):c.266T>C (p.Ile89Thr)
|
rs80357097
|
|
|
NM_007294.4(BRCA1):c.2679G>T (p.Lys893Asn)
|
rs587781771
|
|
|
NM_007294.4(BRCA1):c.2682A>T (p.Lys894Asn)
|
rs1131692093
|
|
|
NM_007294.4(BRCA1):c.2684A>C (p.Gln895Pro)
|
rs587781914
|
|
|
NM_007294.4(BRCA1):c.2684A>G (p.Gln895Arg)
|
rs587781914
|
|
|
NM_007294.4(BRCA1):c.2686A>T (p.Ser896Cys)
|
rs80357188
|
|
|
NM_007294.4(BRCA1):c.2687G>T (p.Ser896Ile)
|
rs2053714262
|
|
|
NM_007294.4(BRCA1):c.2688T>G (p.Ser896Arg)
|
|
|
|
NM_007294.4(BRCA1):c.2689C>T (p.Pro897Ser)
|
rs770583134
|
|
|
NM_007294.4(BRCA1):c.2692A>G (p.Lys898Glu)
|
rs80357420
|
|
|
NM_007294.4(BRCA1):c.2698A>G (p.Thr900Ala)
|
|
|
|
NM_007294.4(BRCA1):c.2702T>C (p.Phe901Ser)
|
rs397507202
|
|
|
NM_007294.4(BRCA1):c.2705A>G (p.Glu902Gly)
|
rs747287311
|
|
|
NM_007294.4(BRCA1):c.2707T>C (p.Cys903Arg)
|
rs1555589103
|
|
|
NM_007294.4(BRCA1):c.2708G>A (p.Cys903Tyr)
|
rs1597868170
|
|
|
NM_007294.4(BRCA1):c.2710G>C (p.Glu904Gln)
|
rs80357035
|
|
|
NM_007294.4(BRCA1):c.2712A>G (p.Glu904=)
|
rs1057522242
|
|
|
NM_007294.4(BRCA1):c.2714A>G (p.Gln905Arg)
|
rs397507203
|
|
|
NM_007294.4(BRCA1):c.2716A>C (p.Lys906Gln)
|
rs1567794535
|
|
|
NM_007294.4(BRCA1):c.2720A>G (p.Glu907Gly)
|
rs1555589078
|
|
|
NM_007294.4(BRCA1):c.2723A>C (p.Glu908Ala)
|
rs1064794969
|
|
|
NM_007294.4(BRCA1):c.2724A>C (p.Glu908Asp)
|
rs1350643283
|
|
|
NM_007294.4(BRCA1):c.2725A>T (p.Asn909Tyr)
|
|
|
|
NM_007294.4(BRCA1):c.2728C>G (p.Gln910Glu)
|
rs397509004
|
|
|
NM_007294.4(BRCA1):c.2729A>G (p.Gln910Arg)
|
rs2154362527
|
|
|
NM_007294.4(BRCA1):c.2732G>A (p.Gly911Glu)
|
rs431825392
|
|
|
NM_007294.4(BRCA1):c.2734A>C (p.Lys912Gln)
|
rs1555589048
|
|
|
NM_007294.4(BRCA1):c.2734A>G (p.Lys912Glu)
|
|
|
|
NM_007294.4(BRCA1):c.2736G>C (p.Lys912Asn)
|
rs1555589046
|
|
|
NM_007294.4(BRCA1):c.2736G>T (p.Lys912Asn)
|
rs1555589046
|
|
|
NM_007294.4(BRCA1):c.2737A>G (p.Asn913Asp)
|
rs1597867982
|
|
|
NM_007294.4(BRCA1):c.2738A>G (p.Asn913Ser)
|
rs199954851
|
|
|
NM_007294.4(BRCA1):c.2740G>A (p.Glu914Lys)
|
rs80357419
|
|
|
NM_007294.4(BRCA1):c.2743T>A (p.Ser915Thr)
|
rs2154361863
|
|
|
NM_007294.4(BRCA1):c.2746A>C (p.Asn916His)
|
rs398122666
|
|
|
NM_007294.4(BRCA1):c.2746A>G (p.Asn916Asp)
|
rs398122666
|
|
|
NM_007294.4(BRCA1):c.2747A>G (p.Asn916Ser)
|
rs864622588
|
|
|
NM_007294.4(BRCA1):c.2749A>G (p.Ile917Val)
|
rs1334134701
|
|
|
NM_007294.4(BRCA1):c.2751C>G (p.Ile917Met)
|
rs1597867872
|
|
|
NM_007294.4(BRCA1):c.2752A>C (p.Lys918Gln)
|
rs397509010
|
|
|
NM_007294.4(BRCA1):c.2754G>T (p.Lys918Asn)
|
rs398122668
|
|
|
NM_007294.4(BRCA1):c.2758G>C (p.Val920Leu)
|
rs80357361
|
|
|
NM_007294.4(BRCA1):c.2761C>A (p.Gln921Lys)
|
rs80357377
|
|
|
NM_007294.4(BRCA1):c.2761C>G (p.Gln921Glu)
|
|
|
|
NM_007294.4(BRCA1):c.2764A>G (p.Thr922Ala)
|
rs1555588988
|
|
|
NM_007294.4(BRCA1):c.2765C>T (p.Thr922Ile)
|
rs80357460
|
|
|
NM_007294.4(BRCA1):c.2773A>G (p.Ile925Val)
|
rs4986847
|
|
|
NM_007294.4(BRCA1):c.2783G>T (p.Gly928Val)
|
|
|
|
NM_007294.4(BRCA1):c.2789C>T (p.Pro930Leu)
|
rs80357256
|
|
|
NM_007294.4(BRCA1):c.2791G>A (p.Val931Met)
|
rs763639161
|
|
|
NM_007294.4(BRCA1):c.2794G>T (p.Val932Phe)
|
rs762589415
|
|
|
NM_007294.4(BRCA1):c.2798G>A (p.Gly933Asp)
|
rs80356941
|
|
|
NM_007294.4(BRCA1):c.2798G>C (p.Gly933Ala)
|
rs80356941
|
|
|
NM_007294.4(BRCA1):c.2800C>G (p.Gln934Glu)
|
|
|
|
NM_007294.4(BRCA1):c.2806G>A (p.Asp936Asn)
|
|
|
|
NM_007294.4(BRCA1):c.2809A>G (p.Lys937Glu)
|
rs1555588915
|
|
|
NM_007294.4(BRCA1):c.2812C>T (p.Pro938Ser)
|
rs1597867531
|
|
|
NM_007294.4(BRCA1):c.2813C>T (p.Pro938Leu)
|
rs1064793999
|
|
|
NM_007294.4(BRCA1):c.2815G>A (p.Val939Ile)
|
rs1555588896
|
|
|
NM_007294.4(BRCA1):c.2816T>C (p.Val939Ala)
|
rs1555588894
|
|
|
NM_007294.4(BRCA1):c.2818G>C (p.Asp940His)
|
rs80357077
|
|
|
NM_007294.4(BRCA1):c.2818G>T (p.Asp940Tyr)
|
rs80357077
|
|
|
NM_007294.4(BRCA1):c.281A>G (p.Gln94Arg)
|
rs2054675893
|
|
|
NM_007294.4(BRCA1):c.2820T>A (p.Asp940Glu)
|
|
|
|
NM_007294.4(BRCA1):c.2822A>G (p.Asn941Ser)
|
rs776512377
|
|
|
NM_007294.4(BRCA1):c.2823T>G (p.Asn941Lys)
|
rs1465630651
|
|
|
NM_007294.4(BRCA1):c.2824G>A (p.Ala942Thr)
|
|
|
|
NM_007294.4(BRCA1):c.2825C>A (p.Ala942Asp)
|
|
|
|
NM_007294.4(BRCA1):c.2830T>A (p.Cys944Ser)
|
rs1064795603
|
|
|
NM_007294.4(BRCA1):c.2831G>A (p.Cys944Tyr)
|
rs770769275
|
|
|
NM_007294.4(BRCA1):c.2833A>G (p.Ser945Gly)
|
rs1567794085
|
|
|
NM_007294.4(BRCA1):c.2836A>G (p.Ile946Val)
|
rs876660901
|
|
|
NM_007294.4(BRCA1):c.2836A>T (p.Ile946Phe)
|
rs876660901
|
|
|
NM_007294.4(BRCA1):c.2840A>G (p.Lys947Arg)
|
rs778118145
|
|
|
NM_007294.4(BRCA1):c.2841A>T (p.Lys947Asn)
|
rs864622618
|
|
|
NM_007294.4(BRCA1):c.2849C>A (p.Ser950Tyr)
|
|
|
|
NM_007294.4(BRCA1):c.2849C>T (p.Ser950Phe)
|
rs1555588847
|
|
|
NM_007294.4(BRCA1):c.2857T>C (p.Cys953Arg)
|
rs1555588840
|
|
|
NM_007294.4(BRCA1):c.2863T>C (p.Ser955Pro)
|
rs2154355696
|
|
|
NM_007294.4(BRCA1):c.2872T>A (p.Phe958Ile)
|
rs80356878
|
|
|
NM_007294.4(BRCA1):c.2872T>C (p.Phe958Leu)
|
rs80356878
|
|
|
NM_007294.4(BRCA1):c.2873T>C (p.Phe958Ser)
|
|
|
|
NM_007294.4(BRCA1):c.2874C>A (p.Phe958Leu)
|
rs1029207537
|
|
|
NM_007294.4(BRCA1):c.2875A>G (p.Arg959Gly)
|
rs1401324575
|
|
|
NM_007294.4(BRCA1):c.2877A>C (p.Arg959Ser)
|
rs587782743
|
|
|
NM_007294.4(BRCA1):c.2878G>A (p.Gly960Ser)
|
rs1555588796
|
|
|
NM_007294.4(BRCA1):c.2879G>C (p.Gly960Ala)
|
|
|
|
NM_007294.4(BRCA1):c.2881A>C (p.Asn961His)
|
rs786203786
|
|
|
NM_007294.4(BRCA1):c.2881A>T (p.Asn961Tyr)
|
rs786203786
|
|
|
NM_007294.4(BRCA1):c.2888C>T (p.Thr963Ile)
|
rs730881443
|
|
|
NM_007294.4(BRCA1):c.2890G>A (p.Gly964Arg)
|
rs879254027
|
|
|
NM_007294.4(BRCA1):c.2891G>A (p.Gly964Glu)
|
rs1597866960
|
|
|
NM_007294.4(BRCA1):c.2893C>G (p.Leu965Val)
|
rs1060502344
|
|
|
NM_007294.4(BRCA1):c.2893C>T (p.Leu965Phe)
|
rs1060502344
|
|
|
NM_007294.4(BRCA1):c.2894T>G (p.Leu965Arg)
|
rs876660682
|
|
|
NM_007294.4(BRCA1):c.2896A>G (p.Ile966Val)
|
rs1274520145
|
|
|
NM_007294.4(BRCA1):c.2900C>T (p.Thr967Ile)
|
rs1249532992
|
|
|
NM_007294.4(BRCA1):c.2905A>G (p.Asn969Asp)
|
rs587781641
|
|
|
NM_007294.4(BRCA1):c.2905A>T (p.Asn969Tyr)
|
rs587781641
|
|
|
NM_007294.4(BRCA1):c.2906A>G (p.Asn969Ser)
|
rs1567793695
|
|
|
NM_007294.4(BRCA1):c.2908A>G (p.Lys970Glu)
|
rs1567793674
|
|
|
NM_007294.4(BRCA1):c.2909A>T (p.Lys970Ile)
|
rs756559408
|
|
|
NM_007294.4(BRCA1):c.2911C>G (p.His971Asp)
|
rs80357478
|
|
|
NM_007294.4(BRCA1):c.2911C>T (p.His971Tyr)
|
rs80357478
|
|
|
NM_007294.4(BRCA1):c.2913T>G (p.His971Gln)
|
rs786203804
|
|
|
NM_007294.4(BRCA1):c.2915G>A (p.Gly972Glu)
|
rs587782721
|
|
|
NM_007294.4(BRCA1):c.2917C>A (p.Leu973Ile)
|
rs80357080
|
|
|
NM_007294.4(BRCA1):c.2917C>G (p.Leu973Val)
|
rs80357080
|
|
|
NM_007294.4(BRCA1):c.2922A>C (p.Leu974Phe)
|
rs730881487
|
|
|
NM_007294.4(BRCA1):c.2929C>G (p.Pro977Ala)
|
rs1064794043
|
|
|
NM_007294.4(BRCA1):c.2929C>T (p.Pro977Ser)
|
rs1064794043
|
|
|
NM_007294.4(BRCA1):c.2932T>C (p.Tyr978His)
|
rs876659545
|
|
|
NM_007294.4(BRCA1):c.2933A>G (p.Tyr978Cys)
|
rs863224756
|
|
|
NM_007294.4(BRCA1):c.2935C>A (p.Arg979Ser)
|
rs80356970
|
|
|
NM_007294.4(BRCA1):c.2941C>A (p.Pro981Thr)
|
rs1555588677
|
|
|
NM_007294.4(BRCA1):c.2942C>A (p.Pro981Gln)
|
rs876659025
|
|
|
NM_007294.4(BRCA1):c.2944C>G (p.Pro982Ala)
|
rs776568544
|
|
|
NM_007294.4(BRCA1):c.2950T>C (p.Phe984Leu)
|
rs1597866542
|
|
|
NM_007294.4(BRCA1):c.2953C>T (p.Pro985Ser)
|
rs1555588649
|
|
|
NM_007294.4(BRCA1):c.2959A>G (p.Lys987Glu)
|
rs878854941
|
|
|
NM_007294.4(BRCA1):c.2960A>G (p.Lys987Arg)
|
rs876659990
|
|
|
NM_007294.4(BRCA1):c.2964A>G (p.Ser988=)
|
rs1064796061
|
|
|
NM_007294.4(BRCA1):c.2967T>A (p.Phe989Leu)
|
rs876659270
|
|
|
NM_007294.4(BRCA1):c.2967T>G (p.Phe989Leu)
|
rs876659270
|
|
|
NM_007294.4(BRCA1):c.2968G>A (p.Val990Ile)
|
rs397509029
|
|
|
NM_007294.4(BRCA1):c.2973A>C (p.Lys991Asn)
|
rs876660683
|
|
|
NM_007294.4(BRCA1):c.2980T>A (p.Cys994Ser)
|
rs144853230
|
|
|
NM_007294.4(BRCA1):c.2980T>C (p.Cys994Arg)
|
rs144853230
|
|
|
NM_007294.4(BRCA1):c.2981G>T (p.Cys994Phe)
|
rs1238452758
|
|
|
NM_007294.4(BRCA1):c.2983A>C (p.Lys995Gln)
|
rs879255315
|
|
|
NM_007294.4(BRCA1):c.2983A>G (p.Lys995Glu)
|
|
|
|
NM_007294.4(BRCA1):c.2987A>G (p.Lys996Arg)
|
rs786202898
|
|
|
NM_007294.4(BRCA1):c.2990A>G (p.Asn997Ser)
|
rs1597866298
|
|
|
NM_007294.4(BRCA1):c.2992C>G (p.Leu998Val)
|
rs876659077
|
|
|
NM_007294.4(BRCA1):c.2993T>A (p.Leu998Gln)
|
rs1567793330
|
|
|
NM_007294.4(BRCA1):c.2993T>G (p.Leu998Arg)
|
rs1567793330
|
|
|
NM_007294.4(BRCA1):c.2995C>T (p.Leu999=)
|
rs80356848
|
|
|
NM_007294.4(BRCA1):c.2996T>G (p.Leu999Arg)
|
rs876659514
|
|
|
NM_007294.4(BRCA1):c.2998G>A (p.Glu1000Lys)
|
rs80357124
|
|
|
NM_007294.4(BRCA1):c.2998_3003del (p.Glu1000_Glu1001del)
|
rs80358333
|
|
|
NM_007294.4(BRCA1):c.3000G>C (p.Glu1000Asp)
|
rs748410422
|
|
|
NM_007294.4(BRCA1):c.3001G>A (p.Glu1001Lys)
|
rs886038007
|
|
|
NM_007294.4(BRCA1):c.301+11A>C
|
rs1555596621
|
|
|
NM_007294.4(BRCA1):c.301+1G>C
|
rs587782173
|
|
|
NM_007294.4(BRCA1):c.3010G>A (p.Glu1004Lys)
|
rs786202534
|
|
|
NM_007294.4(BRCA1):c.3016C>A (p.His1006Asn)
|
|
|
|
NM_007294.4(BRCA1):c.302-5T>C
|
rs778668665
|
|
|
NM_007294.4(BRCA1):c.3022A>C (p.Met1008Leu)
|
rs56321129
|
|
|
NM_007294.4(BRCA1):c.3024G>T (p.Met1008Ile)
|
rs1800704
|
|
|
NM_007294.4(BRCA1):c.3028C>T (p.Pro1010Ser)
|
rs1057519249
|
|
|
NM_007294.4(BRCA1):c.3029C>T (p.Pro1010Leu)
|
rs1597866094
|
|
|
NM_007294.4(BRCA1):c.3031G>A (p.Glu1011Lys)
|
rs876659974
|
|
|
NM_007294.4(BRCA1):c.3035G>A (p.Arg1012Lys)
|
rs876658464
|
|
|
NM_007294.4(BRCA1):c.3035G>C (p.Arg1012Thr)
|
rs876658464
|
|
|
NM_007294.4(BRCA1):c.3036A>C (p.Arg1012Ser)
|
rs1567793150
|
|
|
NM_007294.4(BRCA1):c.3041T>C (p.Met1014Thr)
|
rs80357020
|
|
|
NM_007294.4(BRCA1):c.3042G>A (p.Met1014Ile)
|
rs1555588493
|
|
|
NM_007294.4(BRCA1):c.3046A>G (p.Asn1016Asp)
|
rs80357154
|
|
|
NM_007294.4(BRCA1):c.3047A>G (p.Asn1016Ser)
|
rs1567793123
|
|
|
NM_007294.4(BRCA1):c.3048T>G (p.Asn1016Lys)
|
rs879255482
|
|
|
NM_007294.4(BRCA1):c.3049G>C (p.Glu1017Gln)
|
|
|
|
NM_007294.4(BRCA1):c.3053A>G (p.Asn1018Ser)
|
rs1567793093
|
|
|
NM_007294.4(BRCA1):c.305C>G (p.Ala102Gly)
|
rs80357190
|
|
|
NM_007294.4(BRCA1):c.3062G>C (p.Ser1021Thr)
|
|
|
|
NM_007294.4(BRCA1):c.3065C>T (p.Thr1022Ile)
|
rs786202070
|
|
|
NM_007294.4(BRCA1):c.3071G>A (p.Ser1024Asn)
|
rs757579891
|
|
|
NM_007294.4(BRCA1):c.3072C>A (p.Ser1024Arg)
|
|
|
|
NM_007294.4(BRCA1):c.3074C>T (p.Thr1025Ile)
|
rs397509034
|
|
|
NM_007294.4(BRCA1):c.3078T>G (p.Ile1026Met)
|
rs1555588422
|
|
|
NM_007294.4(BRCA1):c.3080G>A (p.Ser1027Asn)
|
rs80357386
|
|
|
NM_007294.4(BRCA1):c.3080G>C (p.Ser1027Thr)
|
rs80357386
|
|
|
NM_007294.4(BRCA1):c.3083G>T (p.Arg1028Leu)
|
rs80357459
|
|
|
NM_007294.4(BRCA1):c.3091A>G (p.Ile1031Val)
|
rs786203979
|
|
|
NM_007294.4(BRCA1):c.3097G>A (p.Glu1033Lys)
|
rs273899698
|
|
|
NM_007294.4(BRCA1):c.3101A>C (p.Asn1034Thr)
|
|
|
|
NM_007294.4(BRCA1):c.3113A>C (p.Glu1038Ala)
|
rs16941
|
|
|
NM_007294.4(BRCA1):c.3114A>C (p.Glu1038Asp)
|
rs1479034426
|
|
|
NM_007294.4(BRCA1):c.3119G>T (p.Ser1040Ile)
|
rs4986852
|
|
|
NM_007294.4(BRCA1):c.3122C>T (p.Ser1041Leu)
|
rs397509035
|
|
|
NM_007294.4(BRCA1):c.3126C>A (p.Ser1042Arg)
|
|
|
|
NM_007294.4(BRCA1):c.3126C>G (p.Ser1042Arg)
|
rs878854943
|
|
|
NM_007294.4(BRCA1):c.3127A>C (p.Asn1043His)
|
rs587782630
|
|
|
NM_007294.4(BRCA1):c.3127A>G (p.Asn1043Asp)
|
rs587782630
|
|
|
NM_007294.4(BRCA1):c.3128A>C (p.Asn1043Thr)
|
rs1228972723
|
|
|
NM_007294.4(BRCA1):c.3132T>G (p.Ile1044Met)
|
rs1555588333
|
|
|
NM_007294.4(BRCA1):c.3134A>G (p.Asn1045Ser)
|
rs1555588330
|
|
|
NM_007294.4(BRCA1):c.3136G>C (p.Glu1046Gln)
|
rs1555588329
|
|
|
NM_007294.4(BRCA1):c.3143G>T (p.Gly1048Val)
|
rs80356899
|
|
|
NM_007294.4(BRCA1):c.3144T>C (p.Gly1048=)
|
rs80356837
|
|
|
NM_007294.4(BRCA1):c.3146C>G (p.Ser1049Cys)
|
|
|
|
NM_007294.4(BRCA1):c.3149G>C (p.Ser1050Thr)
|
rs1597865440
|
|
|
NM_007294.4(BRCA1):c.3150T>G (p.Ser1050Arg)
|
rs1555588305
|
|
|
NM_007294.4(BRCA1):c.3151A>G (p.Thr1051Ala)
|
rs398122671
|
|
|
NM_007294.4(BRCA1):c.3152C>G (p.Thr1051Ser)
|
rs397509039
|
|
|
NM_007294.4(BRCA1):c.3152C>T (p.Thr1051Ile)
|
rs397509039
|
|
|
NM_007294.4(BRCA1):c.3159A>C (p.Glu1053Asp)
|
rs1567792698
|
|
|
NM_007294.4(BRCA1):c.3163G>A (p.Gly1055Ser)
|
rs749417532
|
|
|
NM_007294.4(BRCA1):c.3166T>G (p.Ser1056Ala)
|
rs876659601
|
|
|
NM_007294.4(BRCA1):c.3167C>A (p.Ser1056Tyr)
|
|
|
|
NM_007294.4(BRCA1):c.3167C>G (p.Ser1056Cys)
|
rs587781588
|
|
|
NM_007294.4(BRCA1):c.3167C>T (p.Ser1056Phe)
|
rs587781588
|
|
|
NM_007294.4(BRCA1):c.3169A>C (p.Ser1057Arg)
|
rs80357479
|
|
|
NM_007294.4(BRCA1):c.3170G>A (p.Ser1057Asn)
|
rs587776487
|
|
|
NM_007294.4(BRCA1):c.3170G>C (p.Ser1057Thr)
|
rs587776487
|
|
|
NM_007294.4(BRCA1):c.3172A>G (p.Ile1058Val)
|
rs1064795478
|
|
|
NM_007294.4(BRCA1):c.3178G>C (p.Glu1060Gln)
|
rs80357424
|
|
|
NM_007294.4(BRCA1):c.3179A>C (p.Glu1060Ala)
|
rs80357184
|
|
|
NM_007294.4(BRCA1):c.3181A>C (p.Ile1061Leu)
|
rs876658975
|
|
|
NM_007294.4(BRCA1):c.3181A>G (p.Ile1061Val)
|
rs876658975
|
|
|
NM_007294.4(BRCA1):c.3182T>C (p.Ile1061Thr)
|
rs1567792602
|
|
|
NM_007294.4(BRCA1):c.3184G>A (p.Gly1062Ser)
|
rs1567792594
|
|
|
NM_007294.4(BRCA1):c.3185G>A (p.Gly1062Asp)
|
|
|
|
NM_007294.4(BRCA1):c.3185G>T (p.Gly1062Val)
|
rs397507211
|
|
|
NM_007294.4(BRCA1):c.3188C>T (p.Ser1063Phe)
|
|
|
|
NM_007294.4(BRCA1):c.3190A>T (p.Ser1064Cys)
|
rs273899702
|
|
|
NM_007294.4(BRCA1):c.3191G>C (p.Ser1064Thr)
|
rs2154337756
|
|
|
NM_007294.4(BRCA1):c.3195T>G (p.Asp1065Glu)
|
rs1567792553
|
|
|
NM_007294.4(BRCA1):c.3196G>A (p.Glu1066Lys)
|
rs1555588220
|
|
|
NM_007294.4(BRCA1):c.3199A>T (p.Asn1067Tyr)
|
rs1597865137
|
|
|
NM_007294.4(BRCA1):c.3200A>G (p.Asn1067Ser)
|
rs1555588214
|
|
|
NM_007294.4(BRCA1):c.3206A>C (p.Gln1069Pro)
|
rs879254151
|
|
|
NM_007294.4(BRCA1):c.3206A>T (p.Gln1069Leu)
|
rs879254151
|
|
|
NM_007294.4(BRCA1):c.3207A>T (p.Gln1069His)
|
rs1567792523
|
|
|
NM_007294.4(BRCA1):c.3209C>G (p.Ala1070Gly)
|
rs397507212
|
|
|
NM_007294.4(BRCA1):c.3212A>G (p.Glu1071Gly)
|
|
|
|
NM_007294.4(BRCA1):c.3218G>A (p.Gly1073Asp)
|
rs757632961
|
|
|
NM_007294.4(BRCA1):c.3223A>G (p.Asn1075Asp)
|
rs1567792459
|
|
|
NM_007294.4(BRCA1):c.3225C>G (p.Asn1075Lys)
|
rs778607600
|
|
|
NM_007294.4(BRCA1):c.3227G>A (p.Arg1076Lys)
|
|
|
|
NM_007294.4(BRCA1):c.3227G>C (p.Arg1076Thr)
|
rs80357313
|
|
|
NM_007294.4(BRCA1):c.3227G>T (p.Arg1076Ile)
|
rs80357313
|
|
|
NM_007294.4(BRCA1):c.3230G>A (p.Gly1077Glu)
|
rs1567792424
|
|
|
NM_007294.4(BRCA1):c.3238T>G (p.Leu1080Val)
|
rs754597283
|
|
|
NM_007294.4(BRCA1):c.3241A>G (p.Asn1081Asp)
|
rs876659928
|
|
|
NM_007294.4(BRCA1):c.3242A>C (p.Asn1081Thr)
|
|
|
|
NM_007294.4(BRCA1):c.3245C>T (p.Ala1082Val)
|
rs1555588115
|
|
|
NM_007294.4(BRCA1):c.3247A>G (p.Met1083Val)
|
rs397507213
|
|
|
NM_007294.4(BRCA1):c.3248T>C (p.Met1083Thr)
|
rs786203958
|
|
|
NM_007294.4(BRCA1):c.3249G>A (p.Met1083Ile)
|
rs1367761716
|
|
|
NM_007294.4(BRCA1):c.3250C>G (p.Leu1084Val)
|
|
|
|
NM_007294.4(BRCA1):c.3263T>A (p.Val1088Asp)
|
rs80356901
|
|
|
NM_007294.4(BRCA1):c.3263T>G (p.Val1088Gly)
|
|
|
|
NM_007294.4(BRCA1):c.3270A>T (p.Gln1090His)
|
rs369925993
|
|
|
NM_007294.4(BRCA1):c.3272C>T (p.Pro1091Leu)
|
rs2053616216
|
|
|
NM_007294.4(BRCA1):c.3274G>A (p.Glu1092Lys)
|
rs876658360
|
|
|
NM_007294.4(BRCA1):c.3275A>G (p.Glu1092Gly)
|
rs751368643
|
|
|
NM_007294.4(BRCA1):c.3277G>T (p.Val1093Phe)
|
rs587778117
|
|
|
NM_007294.4(BRCA1):c.3278T>C (p.Val1093Ala)
|
|
|
|
NM_007294.4(BRCA1):c.3280T>G (p.Tyr1094Asp)
|
rs1555588026
|
|
|
NM_007294.4(BRCA1):c.3281A>C (p.Tyr1094Ser)
|
|
|
|
NM_007294.4(BRCA1):c.3281A>G (p.Tyr1094Cys)
|
rs1597864637
|
|
|
NM_007294.4(BRCA1):c.3283A>G (p.Lys1095Glu)
|
|
|
|
NM_007294.4(BRCA1):c.3286C>A (p.Gln1096Lys)
|
rs80357485
|
|
|
NM_007294.4(BRCA1):c.3287A>G (p.Gln1096Arg)
|
rs273899704
|
|
|
NM_007294.4(BRCA1):c.3289A>C (p.Ser1097Arg)
|
rs587782864
|
|
|
NM_007294.4(BRCA1):c.3289A>G (p.Ser1097Gly)
|
rs587782864
|
|
|
NM_007294.4(BRCA1):c.3289A>T (p.Ser1097Cys)
|
rs587782864
|
|
|
NM_007294.4(BRCA1):c.3298G>A (p.Gly1100Arg)
|
rs1555587999
|
|
|
NM_007294.4(BRCA1):c.3308G>A (p.Cys1103Tyr)
|
rs80357135
|
|
|
NM_007294.4(BRCA1):c.3308G>C (p.Cys1103Ser)
|
|
|
|
NM_007294.4(BRCA1):c.3308G>T (p.Cys1103Phe)
|
rs80357135
|
|
|
NM_007294.4(BRCA1):c.3312G>C (p.Lys1104Asn)
|
rs876659024
|
|
|
NM_007294.4(BRCA1):c.3313C>A (p.His1105Asn)
|
rs80357288
|
|
|
NM_007294.4(BRCA1):c.3315T>A (p.His1105Gln)
|
rs1597864422
|
|
|
NM_007294.4(BRCA1):c.3316C>G (p.Pro1106Ala)
|
|
|
|
NM_007294.4(BRCA1):c.3316C>T (p.Pro1106Ser)
|
rs45599040
|
|
|
NM_007294.4(BRCA1):c.3320A>G (p.Glu1107Gly)
|
rs1597864403
|
|
|
NM_007294.4(BRCA1):c.3322A>G (p.Ile1108Val)
|
rs2154329049
|
|
|
NM_007294.4(BRCA1):c.3324A>G (p.Ile1108Met)
|
|
|
|
NM_007294.4(BRCA1):c.3327A>G (p.Lys1109=)
|
rs41293449
|
|
|
NM_007294.4(BRCA1):c.3327_3329del (p.Lys1110del)
|
rs80357575
|
|
|
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del)
|
rs80358335
|
|
|
NM_007294.4(BRCA1):c.3331C>G (p.Gln1111Glu)
|
rs80357089
|
|
|
NM_007294.4(BRCA1):c.3334G>C (p.Glu1112Gln)
|
rs2154327700
|
|
|
NM_007294.4(BRCA1):c.3344A>T (p.Glu1115Val)
|
rs1555587933
|
|
|
NM_007294.4(BRCA1):c.3346G>A (p.Val1116Ile)
|
|
|
|
NM_007294.4(BRCA1):c.3347T>G (p.Val1116Gly)
|
rs786203153
|
|
|
NM_007294.4(BRCA1):c.3350T>C (p.Val1117Ala)
|
rs2053602865
|
|
|
NM_007294.4(BRCA1):c.3354G>T (p.Gln1118His)
|
rs80357334
|
|
|
NM_007294.4(BRCA1):c.3355A>G (p.Thr1119Ala)
|
rs80356949
|
|
|
NM_007294.4(BRCA1):c.3361A>C (p.Asn1121His)
|
rs876660526
|
|
|
NM_007294.4(BRCA1):c.3361A>G (p.Asn1121Asp)
|
rs876660526
|
|
|
NM_007294.4(BRCA1):c.3362A>T (p.Asn1121Ile)
|
|
|
|
NM_007294.4(BRCA1):c.3365C>T (p.Thr1122Ile)
|
rs2053599251
|
|
|
NM_007294.4(BRCA1):c.3373T>C (p.Ser1125Pro)
|
rs1555587839
|
|
|
NM_007294.4(BRCA1):c.3379T>C (p.Tyr1127His)
|
rs1451089848
|
|
|
NM_007294.4(BRCA1):c.3383T>C (p.Leu1128Pro)
|
rs1555587827
|
|
|
NM_007294.4(BRCA1):c.3392A>T (p.Asp1131Val)
|
rs1555587813
|
|
|
NM_007294.4(BRCA1):c.3392_3393delinsTA (p.Asp1131Val)
|
rs786203428
|
|
|
NM_007294.4(BRCA1):c.3398T>C (p.Leu1133Ser)
|
rs80356971
|
|
|
NM_007294.4(BRCA1):c.3400G>A (p.Glu1134Lys)
|
rs80357018
|
|
|
NM_007294.4(BRCA1):c.3403C>G (p.Gln1135Glu)
|
rs80357136
|
|
|
NM_007294.4(BRCA1):c.3406C>A (p.Pro1136Thr)
|
rs431825395
|
|
|
NM_007294.4(BRCA1):c.3406C>T (p.Pro1136Ser)
|
rs431825395
|
|
|
NM_007294.4(BRCA1):c.3410T>C (p.Met1137Thr)
|
rs80357297
|
|
|
NM_007294.4(BRCA1):c.3415A>C (p.Ser1139Arg)
|
rs587781765
|
|
|
NM_007294.4(BRCA1):c.3415AGT[1] (p.Ser1140del)
|
rs80358337
|
|
|
NM_007294.4(BRCA1):c.3418A>C (p.Ser1140Arg)
|
rs2227945
|
|
|
NM_007294.4(BRCA1):c.3421C>T (p.His1141Tyr)
|
rs1555587727
|
|
|
NM_007294.4(BRCA1):c.3422A>C (p.His1141Pro)
|
|
|
|
NM_007294.4(BRCA1):c.3424G>C (p.Ala1142Pro)
|
rs80357101
|
|
|
NM_007294.4(BRCA1):c.3425C>T (p.Ala1142Val)
|
rs1555587711
|
|
|
NM_007294.4(BRCA1):c.3426A>G (p.Ala1142=)
|
rs80356843
|
|
|
NM_007294.4(BRCA1):c.3427T>C (p.Ser1143Pro)
|
rs2154316944
|
|
|
NM_007294.4(BRCA1):c.3428C>G (p.Ser1143Cys)
|
rs80357434
|
|
|
NM_007294.4(BRCA1):c.3428C>T (p.Ser1143Phe)
|
rs80357434
|
|
|
NM_007294.4(BRCA1):c.3433G>A (p.Val1145Ile)
|
rs431825396
|
|
|
NM_007294.4(BRCA1):c.3433G>T (p.Val1145Phe)
|
rs431825396
|
|
|
NM_007294.4(BRCA1):c.3436T>G (p.Cys1146Gly)
|
rs1567791612
|
|
|
NM_007294.4(BRCA1):c.3437G>A (p.Cys1146Tyr)
|
rs80357247
|
|
|
NM_007294.4(BRCA1):c.3437G>C (p.Cys1146Ser)
|
rs80357247
|
|
|
NM_007294.4(BRCA1):c.3438T>G (p.Cys1146Trp)
|
rs1555587693
|
|
|
NM_007294.4(BRCA1):c.3440C>A (p.Ser1147Tyr)
|
rs876660757
|
|
|
NM_007294.4(BRCA1):c.3445A>T (p.Thr1149Ser)
|
|
|
|
NM_007294.4(BRCA1):c.3449C>T (p.Pro1150Leu)
|
rs587782752
|
|
|
NM_007294.4(BRCA1):c.3451G>A (p.Asp1151Asn)
|
|
|
|
NM_007294.4(BRCA1):c.3454G>C (p.Asp1152His)
|
rs80357175
|
|
|
NM_007294.4(BRCA1):c.3457C>G (p.Leu1153Val)
|
rs1555587658
|
|
|
NM_007294.4(BRCA1):c.3458T>C (p.Leu1153Pro)
|
rs1597863549
|
|
|
NM_007294.4(BRCA1):c.3465T>A (p.Asp1155Glu)
|
rs1567791539
|
|
|
NM_007294.4(BRCA1):c.3466G>A (p.Asp1156Asn)
|
rs1064793302
|
|
|
NM_007294.4(BRCA1):c.3467A>T (p.Asp1156Val)
|
|
|
|
NM_007294.4(BRCA1):c.3470G>C (p.Gly1157Ala)
|
rs876659133
|
|
|
NM_007294.4(BRCA1):c.3472G>A (p.Glu1158Lys)
|
rs397509072
|
|
|
NM_007294.4(BRCA1):c.3475A>G (p.Ile1159Val)
|
rs876658318
|
|
|
NM_007294.4(BRCA1):c.3481G>A (p.Glu1161Lys)
|
rs786203438
|
|
|
NM_007294.4(BRCA1):c.3484G>T (p.Asp1162Tyr)
|
rs1555587619
|
|
|
NM_007294.4(BRCA1):c.3487A>G (p.Thr1163Ala)
|
rs769456095
|
|
|
NM_007294.4(BRCA1):c.3491G>C (p.Ser1164Thr)
|
|
|
|
NM_007294.4(BRCA1):c.3491G>T (p.Ser1164Ile)
|
rs397509075
|
|
|
NM_007294.4(BRCA1):c.3494T>G (p.Phe1165Cys)
|
|
|
|
NM_007294.4(BRCA1):c.3496G>C (p.Ala1166Pro)
|
rs745418679
|
|
|
NM_007294.4(BRCA1):c.3499G>A (p.Glu1167Lys)
|
|
|
|
NM_007294.4(BRCA1):c.3500A>G (p.Glu1167Gly)
|
rs2154308012
|
|
|
NM_007294.4(BRCA1):c.3502A>T (p.Asn1168Tyr)
|
rs2154307903
|
|
|
NM_007294.4(BRCA1):c.3504T>G (p.Asn1168Lys)
|
rs1458197554
|
|
|
NM_007294.4(BRCA1):c.3505G>A (p.Asp1169Asn)
|
rs876659269
|
|
|
NM_007294.4(BRCA1):c.3505G>T (p.Asp1169Tyr)
|
rs876659269
|
|
|
NM_007294.4(BRCA1):c.3510T>G (p.Ile1170Met)
|
rs183119644
|
|
|
NM_007294.4(BRCA1):c.3511A>G (p.Lys1171Glu)
|
rs730882164
|
|
|
NM_007294.4(BRCA1):c.3517A>G (p.Ser1173Gly)
|
rs2053573116
|
|
|
NM_007294.4(BRCA1):c.3521C>G (p.Ser1174Cys)
|
rs1055368753
|
|
|
NM_007294.4(BRCA1):c.3523G>A (p.Ala1175Thr)
|
rs1597863144
|
|
|
NM_007294.4(BRCA1):c.3524C>T (p.Ala1175Val)
|
rs1567791322
|
|
|
NM_007294.4(BRCA1):c.3533G>C (p.Ser1178Thr)
|
rs1294360179
|
|
|
NM_007294.4(BRCA1):c.3535A>C (p.Lys1179Gln)
|
rs587782188
|
|
|
NM_007294.4(BRCA1):c.3539G>C (p.Ser1180Thr)
|
rs1064793057
|
|
|
NM_007294.4(BRCA1):c.3541G>T (p.Val1181Phe)
|
rs56336919
|
|
|
NM_007294.4(BRCA1):c.3545A>T (p.Gln1182Leu)
|
rs1555587532
|
|
|
NM_007294.4(BRCA1):c.3548A>T (p.Lys1183Ile)
|
rs16942
|
|
|
NM_007294.4(BRCA1):c.3548_3549delinsGG (p.Lys1183Arg)
|
rs2053567538
|
|
|
NM_007294.4(BRCA1):c.3555G>T (p.Glu1185Asp)
|
rs587779368
|
|
|
NM_007294.4(BRCA1):c.3556C>T (p.Leu1186Phe)
|
rs1555587505
|
|
|
NM_007294.4(BRCA1):c.3557T>A (p.Leu1186His)
|
rs1567791164
|
|
|
NM_007294.4(BRCA1):c.3560G>C (p.Ser1187Thr)
|
rs80356975
|
|
|
NM_007294.4(BRCA1):c.3565A>T (p.Ser1189Cys)
|
rs1567791142
|
|
|
NM_007294.4(BRCA1):c.3568C>T (p.Pro1190Ser)
|
|
|
|
NM_007294.4(BRCA1):c.3569C>T (p.Pro1190Leu)
|
rs755209182
|
|
|
NM_007294.4(BRCA1):c.3571A>G (p.Ser1191Gly)
|
rs2053563998
|
|
|
NM_007294.4(BRCA1):c.3581C>G (p.Thr1194Ser)
|
rs80357290
|
|
|
NM_007294.4(BRCA1):c.3581C>T (p.Thr1194Ile)
|
rs80357290
|
|
|
NM_007294.4(BRCA1):c.3583C>T (p.His1195Tyr)
|
rs876659903
|
|
|
NM_007294.4(BRCA1):c.3584A>G (p.His1195Arg)
|
rs28897685
|
|
|
NM_007294.4(BRCA1):c.3585T>A (p.His1195Gln)
|
rs2053561125
|
|
|
NM_007294.4(BRCA1):c.3586A>T (p.Thr1196Ser)
|
rs1340335862
|
|
|
NM_007294.4(BRCA1):c.3587C>A (p.Thr1196Lys)
|
rs80356944
|
|
|
NM_007294.4(BRCA1):c.3590A>G (p.His1197Arg)
|
rs2053559788
|
|
|
NM_007294.4(BRCA1):c.3590A>T (p.His1197Leu)
|
rs2053559788
|
|
|
NM_007294.4(BRCA1):c.3595G>C (p.Ala1199Pro)
|
|
|
|
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His)
|
rs56214134
|
|
|
NM_007294.4(BRCA1):c.3601G>C (p.Gly1201Arg)
|
rs55725337
|
|
|
NM_007294.4(BRCA1):c.3602G>A (p.Gly1201Asp)
|
rs1567790971
|
|
|
NM_007294.4(BRCA1):c.3603T>G (p.Gly1201=)
|
rs80356830
|
|
|
NM_007294.4(BRCA1):c.3607C>G (p.Arg1203Gly)
|
rs62625308
|
|
|
NM_007294.4(BRCA1):c.3611G>C (p.Arg1204Thr)
|
rs1456509049
|
|
|
NM_007294.4(BRCA1):c.3613G>A (p.Gly1205Arg)
|
rs80357294
|
|
|
NM_007294.4(BRCA1):c.3616G>T (p.Ala1206Ser)
|
rs1555587407
|
|
|
NM_007294.4(BRCA1):c.3619A>G (p.Lys1207Glu)
|
rs80357455
|
|
|
NM_007294.4(BRCA1):c.3621_3622delinsAG (p.Lys1208Glu)
|
rs1567790889
|
|
|
NM_007294.4(BRCA1):c.3622A>G (p.Lys1208Glu)
|
rs80357152
|
|
|
NM_007294.4(BRCA1):c.3629A>G (p.Glu1210Gly)
|
rs1060502347
|
|
|
NM_007294.4(BRCA1):c.3632C>G (p.Ser1211Cys)
|
rs1555587377
|
|
|
NM_007294.4(BRCA1):c.3642G>T (p.Glu1214Asp)
|
rs398122675
|
|
|
NM_007294.4(BRCA1):c.3644A>G (p.Asn1215Ser)
|
rs786203310
|
|
|
NM_007294.4(BRCA1):c.3655G>A (p.Glu1219Lys)
|
rs80356921
|
|
|
NM_007294.4(BRCA1):c.3666G>C (p.Glu1222Asp)
|
rs1555587312
|
|
|
NM_007294.4(BRCA1):c.3667C>G (p.Leu1223Val)
|
rs1555587309
|
|
|
NM_007294.4(BRCA1):c.3670C>T (p.Pro1224Ser)
|
|
|
|
NM_007294.4(BRCA1):c.3671C>T (p.Pro1224Leu)
|
|
|
|
NM_007294.4(BRCA1):c.3674G>A (p.Cys1225Tyr)
|
rs1567790638
|
|
|
NM_007294.4(BRCA1):c.3674G>C (p.Cys1225Ser)
|
rs1567790638
|
|
|
NM_007294.4(BRCA1):c.3681A>T (p.Gln1227His)
|
rs730881488
|
|
|
NM_007294.4(BRCA1):c.3682C>T (p.His1228Tyr)
|
rs1567790599
|
|
|
NM_007294.4(BRCA1):c.3683A>G (p.His1228Arg)
|
|
|
|
NM_007294.4(BRCA1):c.3688T>A (p.Leu1230Ile)
|
rs786201581
|
|
|
NM_007294.4(BRCA1):c.3688T>G (p.Leu1230Val)
|
rs786201581
|
|
|
NM_007294.4(BRCA1):c.3692T>G (p.Phe1231Cys)
|
|
|
|
NM_007294.4(BRCA1):c.3697A>G (p.Lys1233Glu)
|
|
|
|
NM_007294.4(BRCA1):c.3698A>C (p.Lys1233Thr)
|
rs80357141
|
|
|
NM_007294.4(BRCA1):c.3700G>C (p.Val1234Leu)
|
rs763354142
|
|
|
NM_007294.4(BRCA1):c.3706A>G (p.Asn1236Asp)
|
rs1567790509
|
|
|
NM_007294.4(BRCA1):c.3708T>A (p.Asn1236Lys)
|
rs28897687
|
|
|
NM_007294.4(BRCA1):c.3712C>T (p.Pro1238Ser)
|
rs876659772
|
|
|
NM_007294.4(BRCA1):c.3713C>G (p.Pro1238Arg)
|
rs28897688
|
|
|
NM_007294.4(BRCA1):c.3720G>C (p.Gln1240His)
|
rs876658341
|
|
|
NM_007294.4(BRCA1):c.3722C>A (p.Ser1241Tyr)
|
rs80357143
|
|
|
NM_007294.4(BRCA1):c.3724A>G (p.Thr1242Ala)
|
rs80357037
|
|
|
NM_007294.4(BRCA1):c.3724A>T (p.Thr1242Ser)
|
|
|
|
NM_007294.4(BRCA1):c.3728G>A (p.Arg1243Lys)
|
rs1597861763
|
|
|
NM_007294.4(BRCA1):c.372C>A (p.Ile124=)
|
rs273900715
|
|
|
NM_007294.4(BRCA1):c.3734G>A (p.Ser1245Asn)
|
rs1060502348
|
|
|
NM_007294.4(BRCA1):c.3736A>G (p.Thr1246Ala)
|
rs587776488
|
|
|
NM_007294.4(BRCA1):c.3737C>A (p.Thr1246Asn)
|
rs878854949
|
|
|
NM_007294.4(BRCA1):c.3745A>G (p.Thr1249Ala)
|
rs1555587189
|
|
|
NM_007294.4(BRCA1):c.3750G>T (p.Glu1250Asp)
|
rs145903082
|
|
|
NM_007294.4(BRCA1):c.3752G>A (p.Cys1251Tyr)
|
rs879254079
|
|
|
NM_007294.4(BRCA1):c.3753T>G (p.Cys1251Trp)
|
rs397509098
|
|
|
NM_007294.4(BRCA1):c.3754C>G (p.Leu1252Val)
|
|
|
|
NM_007294.4(BRCA1):c.3755T>C (p.Leu1252Pro)
|
rs1555587147
|
|
|
NM_007294.4(BRCA1):c.3758C>T (p.Ser1253Phe)
|
|
|
|
NM_007294.4(BRCA1):c.3759T>G (p.Ser1253=)
|
rs80356852
|
|
|
NM_007294.4(BRCA1):c.3760A>G (p.Lys1254Glu)
|
rs80357362
|
|
|
NM_007294.4(BRCA1):c.3762G>T (p.Lys1254Asn)
|
rs2053529032
|
|
|
NM_007294.4(BRCA1):c.3770A>G (p.Glu1257Gly)
|
rs1597861451
|
|
|
NM_007294.4(BRCA1):c.3774G>T (p.Glu1258Asp)
|
rs431825399
|
|
|
NM_007294.4(BRCA1):c.3775A>G (p.Asn1259Asp)
|
rs1597861381
|
|
|
NM_007294.4(BRCA1):c.3776A>C (p.Asn1259Thr)
|
rs483353090
|
|
|
NM_007294.4(BRCA1):c.3778T>G (p.Leu1260Val)
|
rs1555587079
|
|
|
NM_007294.4(BRCA1):c.3782T>C (p.Leu1261Ser)
|
rs397507219
|
|
|
NM_007294.4(BRCA1):c.3792G>C (p.Lys1264Asn)
|
rs894781955
|
|
|
NM_007294.4(BRCA1):c.3793A>C (p.Asn1265His)
|
rs1060502364
|
|
|
NM_007294.4(BRCA1):c.3797G>T (p.Ser1266Ile)
|
rs80357160
|
|
|
NM_007294.4(BRCA1):c.3804T>G (p.Asn1268Lys)
|
rs140588714
|
|
|
NM_007294.4(BRCA1):c.3807C>G (p.Asp1269Glu)
|
rs786202569
|
|
|
NM_007294.4(BRCA1):c.3808T>C (p.Cys1270Arg)
|
rs2154285914
|
|
|
NM_007294.4(BRCA1):c.3812G>A (p.Ser1271Asn)
|
|
|
|
NM_007294.4(BRCA1):c.3814A>G (p.Asn1272Asp)
|
|
|
|
NM_007294.4(BRCA1):c.3816C>A (p.Asn1272Lys)
|
rs786201893
|
|
|
NM_007294.4(BRCA1):c.3824T>G (p.Ile1275Arg)
|
|
|
|
NM_007294.4(BRCA1):c.3830C>T (p.Ala1277Val)
|
rs730881489
|
|
|
NM_007294.4(BRCA1):c.3835G>C (p.Ala1279Pro)
|
rs80357036
|
|
|
NM_007294.4(BRCA1):c.3835G>T (p.Ala1279Ser)
|
rs80357036
|
|
|
NM_007294.4(BRCA1):c.3836C>T (p.Ala1279Val)
|
rs1555586967
|
|
|
NM_007294.4(BRCA1):c.3838T>C (p.Ser1280Pro)
|
rs1567789887
|
|
|
NM_007294.4(BRCA1):c.3839C>A (p.Ser1280Tyr)
|
rs1597860978
|
|
|
NM_007294.4(BRCA1):c.3841C>G (p.Gln1281Glu)
|
rs80356866
|
|
|
NM_007294.4(BRCA1):c.3844G>C (p.Glu1282Gln)
|
|
|
|
NM_007294.4(BRCA1):c.3845A>T (p.Glu1282Val)
|
rs80357217
|
|
|
NM_007294.4(BRCA1):c.3847C>T (p.His1283Tyr)
|
rs1555586946
|
|
|
NM_007294.4(BRCA1):c.3851A>T (p.His1284Leu)
|
rs80357499
|
|
|
NM_007294.4(BRCA1):c.3856A>G (p.Ser1286Gly)
|
|
|
|
NM_007294.4(BRCA1):c.3857G>T (p.Ser1286Ile)
|
rs142383077
|
|
|
NM_007294.4(BRCA1):c.3860A>C (p.Glu1287Ala)
|
|
|
|
NM_007294.4(BRCA1):c.3862G>C (p.Glu1288Gln)
|
rs876659708
|
|
|
NM_007294.4(BRCA1):c.3865A>C (p.Thr1289Pro)
|
rs1064795449
|
|
|
NM_007294.4(BRCA1):c.3866C>G (p.Thr1289Arg)
|
|
|
|
NM_007294.4(BRCA1):c.3869A>C (p.Lys1290Thr)
|
rs431825401
|
|
|
NM_007294.4(BRCA1):c.3874T>C (p.Ser1292Pro)
|
rs786203823
|
|
|
NM_007294.4(BRCA1):c.3875C>A (p.Ser1292Tyr)
|
rs876658340
|
|
|
NM_007294.4(BRCA1):c.3875C>G (p.Ser1292Cys)
|
rs876658340
|
|
|
NM_007294.4(BRCA1):c.3877G>C (p.Ala1293Pro)
|
rs397507223
|
|
|
NM_007294.4(BRCA1):c.3877_3878delinsTT (p.Ala1293Phe)
|
|
|
|
NM_007294.4(BRCA1):c.3878C>T (p.Ala1293Val)
|
rs80357213
|
|
|
NM_007294.4(BRCA1):c.3881G>T (p.Ser1294Ile)
|
rs776996813
|
|
|
NM_007294.4(BRCA1):c.3887T>G (p.Phe1296Cys)
|
rs1555586855
|
|
|
NM_007294.4(BRCA1):c.3889T>C (p.Ser1297Pro)
|
rs1450793674
|
|
|
NM_007294.4(BRCA1):c.3892T>A (p.Ser1298Thr)
|
rs1597860615
|
|
|
NM_007294.4(BRCA1):c.3896A>G (p.Gln1299Arg)
|
rs876660866
|
|
|
NM_007294.4(BRCA1):c.3897G>T (p.Gln1299His)
|
rs398122678
|
|
|
NM_007294.4(BRCA1):c.389A>T (p.Tyr130Phe)
|
rs56055578
|
|
|
NM_007294.4(BRCA1):c.3901A>G (p.Ser1301Gly)
|
rs786203580
|
|
|
NM_007294.4(BRCA1):c.3901A>T (p.Ser1301Cys)
|
rs786203580
|
|
|
NM_007294.4(BRCA1):c.3903T>A (p.Ser1301Arg)
|
rs273900719
|
|
|
NM_007294.4(BRCA1):c.3904G>A (p.Glu1302Lys)
|
rs80357461
|
|
|
NM_007294.4(BRCA1):c.3906A>T (p.Glu1302Asp)
|
rs1567789643
|
|
|
NM_007294.4(BRCA1):c.3913G>A (p.Asp1305Asn)
|
|
|
|
NM_007294.4(BRCA1):c.3913G>C (p.Asp1305His)
|
rs1555586799
|
|
|
NM_007294.4(BRCA1):c.3914A>T (p.Asp1305Val)
|
rs431825402
|
|
|
NM_007294.4(BRCA1):c.3918G>C (p.Leu1306Phe)
|
rs786202068
|
|
|
NM_007294.4(BRCA1):c.3925A>C (p.Asn1309His)
|
rs2053499636
|
|
|
NM_007294.4(BRCA1):c.3925A>G (p.Asn1309Asp)
|
rs2053499636
|
|
|
NM_007294.4(BRCA1):c.3928A>G (p.Thr1310Ala)
|
rs2053499046
|
|
|
NM_007294.4(BRCA1):c.3929C>T (p.Thr1310Ile)
|
rs80357257
|
|
|
NM_007294.4(BRCA1):c.3931A>G (p.Asn1311Asp)
|
rs864622233
|
|
|
NM_007294.4(BRCA1):c.3933C>A (p.Asn1311Lys)
|
rs1597860407
|
|
|
NM_007294.4(BRCA1):c.3938A>G (p.Gln1313Arg)
|
rs765729710
|
|
|
NM_007294.4(BRCA1):c.3941A>T (p.Asp1314Val)
|
rs759916956
|
|
|
NM_007294.4(BRCA1):c.3943C>A (p.Pro1315Thr)
|
|
|
|
NM_007294.4(BRCA1):c.3952A>G (p.Ile1318Val)
|
rs397509121
|
|
|
NM_007294.4(BRCA1):c.3953T>C (p.Ile1318Thr)
|
rs1388475291
|
|
|
NM_007294.4(BRCA1):c.3955G>A (p.Gly1319Ser)
|
rs431825403
|
|
|
NM_007294.4(BRCA1):c.3959C>A (p.Ser1320Tyr)
|
|
|
|
NM_007294.4(BRCA1):c.3959C>T (p.Ser1320Phe)
|
rs2053494663
|
|
|
NM_007294.4(BRCA1):c.3962C>A (p.Ser1321Tyr)
|
rs386833394
|
|
|
NM_007294.4(BRCA1):c.3964A>G (p.Lys1322Glu)
|
rs80357343
|
|
|
NM_007294.4(BRCA1):c.3965A>G (p.Lys1322Arg)
|
rs80357042
|
|
|
NM_007294.4(BRCA1):c.3965A>T (p.Lys1322Ile)
|
rs80357042
|
|
|
NM_007294.4(BRCA1):c.3969A>T (p.Gln1323His)
|
rs876660410
|
|
|
NM_007294.4(BRCA1):c.3970A>T (p.Met1324Leu)
|
rs587782241
|
|
|
NM_007294.4(BRCA1):c.3971T>C (p.Met1324Thr)
|
rs1597860147
|
|
|
NM_007294.4(BRCA1):c.3974G>A (p.Arg1325Lys)
|
rs921253348
|
|
|
NM_007294.4(BRCA1):c.3977A>G (p.His1326Arg)
|
|
|
|
NM_007294.4(BRCA1):c.3979C>G (p.Gln1327Glu)
|
rs876659720
|
|
|
NM_007294.4(BRCA1):c.3980A>G (p.Gln1327Arg)
|
rs730881444
|
|
|
NM_007294.4(BRCA1):c.3985G>A (p.Glu1329Lys)
|
rs876659467
|
|
|
NM_007294.4(BRCA1):c.3988A>T (p.Ser1330Cys)
|
rs1555586688
|
|
|
NM_007294.4(BRCA1):c.3990C>G (p.Ser1330Arg)
|
rs876660808
|
|
|
NM_007294.4(BRCA1):c.3993G>C (p.Gln1331His)
|
|
|
|
NM_007294.4(BRCA1):c.3995G>T (p.Gly1332Val)
|
rs730881490
|
|
|
NM_007294.4(BRCA1):c.4001G>T (p.Gly1334Val)
|
rs2053486938
|
|
|
NM_007294.4(BRCA1):c.4003C>G (p.Leu1335Val)
|
|
|
|
NM_007294.4(BRCA1):c.4007G>T (p.Ser1336Ile)
|
rs2053486331
|
|
|
NM_007294.4(BRCA1):c.4009G>C (p.Asp1337His)
|
rs886041144
|
|
|
NM_007294.4(BRCA1):c.4013A>G (p.Lys1338Arg)
|
rs1555586661
|
|
|
NM_007294.4(BRCA1):c.4015G>A (p.Glu1339Lys)
|
rs80357021
|
|
|
NM_007294.4(BRCA1):c.4016A>G (p.Glu1339Gly)
|
rs886039313
|
|
|
NM_007294.4(BRCA1):c.4020G>T (p.Leu1340Phe)
|
rs1555586637
|
|
|
NM_007294.4(BRCA1):c.4026A>G (p.Ser1342=)
|
rs80356828
|
|
|
NM_007294.4(BRCA1):c.4027G>T (p.Asp1343Tyr)
|
rs1160287128
|
|
|
NM_007294.4(BRCA1):c.4034A>T (p.Glu1345Val)
|
rs745638837
|
|
|
NM_007294.4(BRCA1):c.4040G>A (p.Arg1347Lys)
|
rs80357210
|
|
|
NM_007294.4(BRCA1):c.4043G>T (p.Gly1348Val)
|
|
|
|
NM_007294.4(BRCA1):c.4045A>G (p.Thr1349Ala)
|
rs80357231
|
|
|
NM_007294.4(BRCA1):c.4046C>G (p.Thr1349Arg)
|
rs80357345
|
|
|
NM_007294.4(BRCA1):c.4048G>T (p.Gly1350Cys)
|
rs748674194
|
|
|
NM_007294.4(BRCA1):c.4054G>C (p.Glu1352Gln)
|
rs80357202
|
|
|
NM_007294.4(BRCA1):c.4057G>A (p.Glu1353Lys)
|
rs80357178
|
|
|
NM_007294.4(BRCA1):c.4060AAT[1] (p.Asn1355del)
|
rs80358341
|
|
|
NM_007294.4(BRCA1):c.4061A>G (p.Asn1354Ser)
|
rs767246037
|
|
|
NM_007294.4(BRCA1):c.4063A>G (p.Asn1355Asp)
|
rs876660530
|
|
|
NM_007294.4(BRCA1):c.4064A>G (p.Asn1355Ser)
|
rs1567789081
|
|
|
NM_007294.4(BRCA1):c.4071A>T (p.Glu1357Asp)
|
rs786201475
|
|
|
NM_007294.4(BRCA1):c.4072G>A (p.Glu1358Lys)
|
rs397509136
|
|
|
NM_007294.4(BRCA1):c.4075C>A (p.Gln1359Lys)
|
rs80357456
|
|
|
NM_007294.4(BRCA1):c.4075C>G (p.Gln1359Glu)
|
rs80357456
|
|
|
NM_007294.4(BRCA1):c.4082T>C (p.Met1361Thr)
|
rs763596987
|
|
|
NM_007294.4(BRCA1):c.4083G>A (p.Met1361Ile)
|
rs374192364
|
|
|
NM_007294.4(BRCA1):c.4084G>T (p.Asp1362Tyr)
|
|
|
|
NM_007294.4(BRCA1):c.4085A>T (p.Asp1362Val)
|
rs1597859423
|
|
|
NM_007294.4(BRCA1):c.4086T>A (p.Asp1362Glu)
|
rs2154264837
|
|
|
NM_007294.4(BRCA1):c.4088C>T (p.Ser1363Leu)
|
rs398122680
|
|
|
NM_007294.4(BRCA1):c.4091A>C (p.Asn1364Thr)
|
rs765156052
|
|
|
NM_007294.4(BRCA1):c.4093T>G (p.Leu1365Val)
|
rs1567788936
|
|
|
NM_007294.4(BRCA1):c.4096+3A>G
|
rs80358015
|
|
|
NM_007294.4(BRCA1):c.4097-7A>G
|
rs80358007
|
|
|
NM_007294.4(BRCA1):c.4130G>A (p.Ser1377Asn)
|
rs1567788442
|
|
|
NM_007294.4(BRCA1):c.413T>G (p.Leu138Arg)
|
|
|
|
NM_007294.4(BRCA1):c.4184A>G (p.Gln1395Arg)
|
rs80356972
|
|
|
NM_007294.4(BRCA1):c.4185+10G>A
|
rs80358104
|
|
|
NM_007294.4(BRCA1):c.4185+11TG[7]
|
rs273900723
|
|
|
NM_007294.4(BRCA1):c.4185+5A>G
|
rs766330646
|
|
|
NM_007294.4(BRCA1):c.4186-10G>A
|
rs80358172
|
|
|
NM_007294.4(BRCA1):c.423A>G (p.Glu141=)
|
rs777102216
|
|
|
NM_007294.4(BRCA1):c.4255G>C (p.Glu1419Gln)
|
rs80357309
|
|
|
NM_007294.4(BRCA1):c.42C>A (p.Val14=)
|
rs80356827
|
|
|
NM_007294.4(BRCA1):c.4352A>G (p.Glu1451Gly)
|
rs949793708
|
|
|
NM_007294.4(BRCA1):c.4358-13A>G
|
rs1567780008
|
|
|
NM_007294.4(BRCA1):c.4393A>G (p.Ile1465Val)
|
rs1567779778
|
|
|
NM_007294.4(BRCA1):c.439T>C (p.Leu147=)
|
rs794727800
|
|
|
NM_007294.4(BRCA1):c.4485-8C>A
|
rs397507234
|
|
|
NM_007294.4(BRCA1):c.4505C>A (p.Pro1502Gln)
|
rs56335406
|
|
|
NM_007294.4(BRCA1):c.4610A>G (p.Gln1537Arg)
|
rs70953659
|
|
|
NM_007294.4(BRCA1):c.4631C>T (p.Pro1544Leu)
|
rs80356917
|
|
|
NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His)
|
rs1265352633
|
|
|
NM_007294.4(BRCA1):c.4657T>A (p.Leu1553Met)
|
rs80357431
|
|
|
NM_007294.4(BRCA1):c.4733A>G (p.Asp1578Gly)
|
rs80356930
|
|
|
NM_007294.4(BRCA1):c.4833C>T (p.Ala1611=)
|
rs80356842
|
|
|
NM_007294.4(BRCA1):c.483T>G (p.Thr161=)
|
rs1060504575
|
|
|
NM_007294.4(BRCA1):c.4860T>C (p.Thr1620=)
|
rs750938749
|
|
|
NM_007294.4(BRCA1):c.4893T>C (p.Ser1631=)
|
rs80356850
|
|
|
NM_007294.4(BRCA1):c.4895T>G (p.Val1632Gly)
|
rs1397965282
|
|
|
NM_007294.4(BRCA1):c.4931A>G (p.Glu1644Gly)
|
rs80357016
|
|
|
NM_007294.4(BRCA1):c.4935G>C (p.Arg1645Ser)
|
rs80357373
|
|
|
NM_007294.4(BRCA1):c.4941C>A (p.Asn1647Lys)
|
rs80357302
|
|
|
NM_007294.4(BRCA1):c.4973C>A (p.Thr1658Asn)
|
rs1015073230
|
|
|
NM_007294.4(BRCA1):c.4988T>A (p.Met1663Lys)
|
rs80357205
|
|
|
NM_007294.4(BRCA1):c.4993G>C (p.Val1665Leu)
|
rs80357169
|
|
|
NM_007294.4(BRCA1):c.5023A>T (p.Thr1675Ser)
|
rs774452090
|
|
|
NM_007294.4(BRCA1):c.5044G>A (p.Glu1682Lys)
|
rs80356958
|
|
|
NM_007294.4(BRCA1):c.5071A>G (p.Thr1691Ala)
|
rs397509219
|
|
|
NM_007294.4(BRCA1):c.5087T>C (p.Val1696Ala)
|
rs397509226
|
|
|
NM_007294.4(BRCA1):c.5106A>G (p.Lys1702=)
|
rs1060504574
|
|
|
NM_007294.4(BRCA1):c.5113C>G (p.Leu1705Val)
|
rs80356858
|
|
|
NM_007294.4(BRCA1):c.5147A>G (p.Tyr1716Cys)
|
rs587782456
|
|
|
NM_007294.4(BRCA1):c.5152+7A>G
|
rs80358046
|
|
|
NM_007294.4(BRCA1):c.5153-26A>G
|
rs80358109
|
|
|
NM_007294.4(BRCA1):c.5175A>C (p.Glu1725Asp)
|
rs191373374
|
|
|
NM_007294.4(BRCA1):c.5177G>T (p.Arg1726Ile)
|
rs786203547
|
|
|
NM_007294.4(BRCA1):c.5193+3A>G
|
rs1060502326
|
|
|
NM_007294.4(BRCA1):c.5193G>A (p.Glu1731=)
|
rs876660702
|
|
|
NM_007294.4(BRCA1):c.5198A>G (p.Asp1733Gly)
|
rs80357270
|
|
|
NM_007294.4(BRCA1):c.5211A>G (p.Arg1737=)
|
rs1555576963
|
|
|
NM_007294.4(BRCA1):c.5221G>A (p.Val1741Ile)
|
rs876659122
|
|
|
NM_007294.4(BRCA1):c.5256A>C (p.Ala1752=)
|
rs80356844
|
|
|
NM_007294.4(BRCA1):c.5269G>C (p.Asp1757His)
|
rs863224764
|
|
|
NM_007294.4(BRCA1):c.5276A>G (p.Lys1759Arg)
|
rs431825415
|
|
|
NM_007294.4(BRCA1):c.5277+3A>G
|
rs397509250
|
|
|
NM_007294.4(BRCA1):c.5285G>T (p.Arg1762Met)
|
rs398122694
|
|
|
NM_007294.4(BRCA1):c.5296A>G (p.Ile1766Val)
|
rs886039314
|
|
|
NM_007294.4(BRCA1):c.5306A>G (p.Tyr1769Cys)
|
rs397509257
|
|
|
NM_007294.4(BRCA1):c.5309G>C (p.Gly1770Ala)
|
rs863224765
|
|
|
NM_007294.4(BRCA1):c.5312C>T (p.Pro1771Leu)
|
rs80357025
|
|
|
NM_007294.4(BRCA1):c.5318C>T (p.Thr1773Ile)
|
rs80357428
|
|
|
NM_007294.4(BRCA1):c.5327C>A (p.Pro1776His)
|
rs398122695
|
|
|
NM_007294.4(BRCA1):c.5332+20C>A
|
rs1057521961
|
|
|
NM_007294.4(BRCA1):c.5343A>C (p.Glu1781Asp)
|
rs1555575182
|
|
|
NM_007294.4(BRCA1):c.5365G>T (p.Ala1789Ser)
|
rs80357078
|
|
|
NM_007294.4(BRCA1):c.5371G>T (p.Val1791Leu)
|
rs145758886
|
|
|
NM_007294.4(BRCA1):c.5372T>C (p.Val1791Ala)
|
rs864622244
|
|
|
NM_007294.4(BRCA1):c.5406+53A>T
|
rs273901766
|
|
|
NM_007294.4(BRCA1):c.5406+9T>C
|
rs80358040
|
|
|
NM_007294.4(BRCA1):c.5406A>C (p.Thr1802=)
|
rs879255493
|
|
|
NM_007294.4(BRCA1):c.5407-21C>T
|
rs273901768
|
|
|
NM_007294.4(BRCA1):c.5407-4C>G
|
rs876660347
|
|
|
NM_007294.4(BRCA1):c.5407G>T (p.Gly1803Cys)
|
rs876659510
|
|
|
NM_007294.4(BRCA1):c.5422G>T (p.Val1808Leu)
|
rs1555574756
|
|
|
NM_007294.4(BRCA1):c.5454C>T (p.Asp1818=)
|
rs1555574705
|
|
|
NM_007294.4(BRCA1):c.5458G>A (p.Gly1820Ser)
|
rs398122698
|
|
|
NM_007294.4(BRCA1):c.5466T>C (p.His1822=)
|
rs886052975
|
|
|
NM_007294.4(BRCA1):c.5468-12C>T
|
rs751653743
|
|
|
NM_007294.4(BRCA1):c.547+14G>A
|
rs932782447
|
|
|
NM_007294.4(BRCA1):c.547+14del
|
rs273902771
|
|
|
NM_007294.4(BRCA1):c.5470A>G (p.Ile1824Val)
|
rs587782026
|
|
|
NM_007294.4(BRCA1):c.5476C>A (p.Gln1826Lys)
|
rs587782887
|
|
|
NM_007294.4(BRCA1):c.548-9del
|
rs273902774
|
|
|
NM_007294.4(BRCA1):c.5492C>G (p.Pro1831Arg)
|
rs587782778
|
|
|
NM_007294.4(BRCA1):c.5512G>A (p.Val1838Met)
|
rs730881501
|
|
|
NM_007294.4(BRCA1):c.5529_5530delinsCA (p.Leu1844Ile)
|
rs1555574389
|
|
|
NM_007294.4(BRCA1):c.5531T>C (p.Leu1844Pro)
|
rs80357323
|
|
|
NM_007294.4(BRCA1):c.5532C>T (p.Leu1844=)
|
rs80356829
|
|
|
NM_007294.4(BRCA1):c.5538G>A (p.Gln1846=)
|
rs80356849
|
|
|
NM_007294.4(BRCA1):c.5555C>T (p.Thr1852Ile)
|
rs730881502
|
|
|
NM_007294.4(BRCA1):c.556T>G (p.Ser186Ala)
|
rs397509298
|
|
|
NM_007294.4(BRCA1):c.5571_5579del (p.Gln1857_Pro1859del)
|
rs775417240
|
|
|
NM_007294.4(BRCA1):c.5578dup (p.His1860fs)
|
rs397507254
|
|
|
NM_007294.4(BRCA1):c.567T>C (p.Asp189=)
|
rs80356845
|
|
|
NM_007294.4(BRCA1):c.593+4A>G
|
rs80358154
|
|
|
NM_007294.4(BRCA1):c.654G>A (p.Leu218=)
|
rs1555593548
|
|
|
NM_007294.4(BRCA1):c.669G>A (p.Lys223=)
|
rs1131692066
|
|
|
NM_007294.4(BRCA1):c.66A>G (p.Leu22=)
|
rs786202533
|
|
|
NM_007294.4(BRCA1):c.670+8C>T
|
rs80358050
|
|
|
NM_007294.4(BRCA1):c.671-18_671-16del
|
rs398122354
|
|
|
NM_007294.4(BRCA1):c.677G>A (p.Cys226Tyr)
|
rs1376262238
|
|
|
NM_007294.4(BRCA1):c.677G>C (p.Cys226Ser)
|
rs1376262238
|
|
|
NM_007294.4(BRCA1):c.677G>T (p.Cys226Phe)
|
|
|
|
NM_007294.4(BRCA1):c.679G>A (p.Glu227Lys)
|
rs879255319
|
|
|
NM_007294.4(BRCA1):c.683T>A (p.Phe228Tyr)
|
rs191872612
|
|
|
NM_007294.4(BRCA1):c.686C>T (p.Ser229Phe)
|
rs1597880556
|
|
|
NM_007294.4(BRCA1):c.694G>T (p.Asp232Tyr)
|
rs55975699
|
|
|
NM_007294.4(BRCA1):c.695A>G (p.Asp232Gly)
|
|
|
|
NM_007294.4(BRCA1):c.695A>T (p.Asp232Val)
|
rs398122708
|
|
|
NM_007294.4(BRCA1):c.697G>A (p.Val233Ile)
|
rs959797914
|
|
|
NM_007294.4(BRCA1):c.701C>T (p.Thr234Ile)
|
rs1555593290
|
|
|
NM_007294.4(BRCA1):c.707C>G (p.Thr236Ser)
|
rs80356990
|
|
|
NM_007294.4(BRCA1):c.710A>C (p.Glu237Ala)
|
rs1597880432
|
|
|
NM_007294.4(BRCA1):c.713A>G (p.His238Arg)
|
rs587782094
|
|
|
NM_007294.4(BRCA1):c.716A>T (p.His239Leu)
|
rs80357396
|
|
|
NM_007294.4(BRCA1):c.719A>C (p.Gln240Pro)
|
|
|
|
NM_007294.4(BRCA1):c.722C>T (p.Pro241Leu)
|
rs80357351
|
|
|
NM_007294.4(BRCA1):c.724A>G (p.Ser242Gly)
|
rs1555593258
|
|
|
NM_007294.4(BRCA1):c.727A>G (p.Asn243Asp)
|
rs587782123
|
|
|
NM_007294.4(BRCA1):c.727A>T (p.Asn243Tyr)
|
rs587782123
|
|
|
NM_007294.4(BRCA1):c.731_732delinsCA (p.Asn244Thr)
|
rs1064794375
|
|
|
NM_007294.4(BRCA1):c.735T>A (p.Asp245Glu)
|
rs1567802284
|
|
|
NM_007294.4(BRCA1):c.738G>C (p.Leu246Phe)
|
|
|
|
NM_007294.4(BRCA1):c.742A>C (p.Thr248Pro)
|
rs879255288
|
|
|
NM_007294.4(BRCA1):c.742A>G (p.Thr248Ala)
|
rs879255288
|
|
|
NM_007294.4(BRCA1):c.745A>T (p.Thr249Ser)
|
rs397507256
|
|
|
NM_007294.4(BRCA1):c.746C>A (p.Thr249Asn)
|
rs2054054165
|
|
|
NM_007294.4(BRCA1):c.748G>A (p.Glu250Lys)
|
rs1567802220
|
|
|
NM_007294.4(BRCA1):c.750G>C (p.Glu250Asp)
|
rs762867923
|
|
|
NM_007294.4(BRCA1):c.757G>A (p.Ala253Thr)
|
rs80357293
|
|
|
NM_007294.4(BRCA1):c.758C>A (p.Ala253Glu)
|
|
|
|
NM_007294.4(BRCA1):c.758C>T (p.Ala253Val)
|
rs1555593177
|
|
|
NM_007294.4(BRCA1):c.766A>T (p.Arg256Trp)
|
rs587781833
|
|
|
NM_007294.4(BRCA1):c.768G>C (p.Arg256Ser)
|
rs746067447
|
|
|
NM_007294.4(BRCA1):c.768G>T (p.Arg256Ser)
|
|
|
|
NM_007294.4(BRCA1):c.769C>T (p.His257Tyr)
|
rs1597880077
|
|
|
NM_007294.4(BRCA1):c.773C>G (p.Pro258Arg)
|
rs80357225
|
|
|
NM_007294.4(BRCA1):c.777A>T (p.Glu259Asp)
|
|
|
|
NM_007294.4(BRCA1):c.778A>C (p.Lys260Gln)
|
rs786202263
|
|
|
NM_007294.4(BRCA1):c.785A>G (p.Gln262Arg)
|
rs1555593115
|
|
|
NM_007294.4(BRCA1):c.787G>A (p.Gly263Ser)
|
rs397509318
|
|
|
NM_007294.4(BRCA1):c.788G>T (p.Gly263Val)
|
rs397509319
|
|
|
NM_007294.4(BRCA1):c.80+7C>A
|
rs80358098
|
|
|
NM_007294.4(BRCA1):c.802A>G (p.Asn268Asp)
|
rs1555593066
|
|
|
NM_007294.4(BRCA1):c.803A>G (p.Asn268Ser)
|
rs1597879900
|
|
|
NM_007294.4(BRCA1):c.804C>G (p.Asn268Lys)
|
rs771076131
|
|
|
NM_007294.4(BRCA1):c.809A>G (p.His270Arg)
|
rs1597879864
|
|
|
NM_007294.4(BRCA1):c.809A>T (p.His270Leu)
|
rs1597879864
|
|
|
NM_007294.4(BRCA1):c.81-12del
|
rs273902789
|
|
|
NM_007294.4(BRCA1):c.81-13C>G
|
rs56328013
|
|
|
NM_007294.4(BRCA1):c.81-20C>T
|
rs80358039
|
|
|
NM_007294.4(BRCA1):c.811G>C (p.Val271Leu)
|
rs80357244
|
|
|
NM_007294.4(BRCA1):c.811G>T (p.Val271Leu)
|
rs80357244
|
|
|
NM_007294.4(BRCA1):c.812T>G (p.Val271Gly)
|
rs753099787
|
|
|
NM_007294.4(BRCA1):c.817C>T (p.Pro273Ser)
|
rs1597879824
|
|
|
NM_007294.4(BRCA1):c.820T>C (p.Cys274Arg)
|
rs755285181
|
|
|
NM_007294.4(BRCA1):c.821G>A (p.Cys274Tyr)
|
rs1597879808
|
|
|
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser)
|
rs8176153
|
|
|
NM_007294.4(BRCA1):c.827C>A (p.Thr276Lys)
|
rs80357436
|
|
|
NM_007294.4(BRCA1):c.829A>G (p.Asn277Asp)
|
rs2054040121
|
|
|
NM_007294.4(BRCA1):c.836A>G (p.His279Arg)
|
rs80357482
|
|
|
NM_007294.4(BRCA1):c.836A>T (p.His279Leu)
|
rs80357482
|
|
|
NM_007294.4(BRCA1):c.841A>G (p.Ser281Gly)
|
rs1300771163
|
|
|
NM_007294.4(BRCA1):c.842G>A (p.Ser281Asn)
|
|
|
|
NM_007294.4(BRCA1):c.842G>C (p.Ser281Thr)
|
rs1567801816
|
|
|
NM_007294.4(BRCA1):c.845C>T (p.Ser282Leu)
|
rs786203027
|
|
|
NM_007294.4(BRCA1):c.848T>C (p.Leu283Ser)
|
rs273902792
|
|
|
NM_007294.4(BRCA1):c.851A>G (p.Gln284Arg)
|
rs80357039
|
|
|
NM_007294.4(BRCA1):c.852G>C (p.Gln284His)
|
rs1597879571
|
|
|
NM_007294.4(BRCA1):c.854A>G (p.His285Arg)
|
rs2154489161
|
|
|
NM_007294.4(BRCA1):c.861C>A (p.Asn287Lys)
|
|
|
|
NM_007294.4(BRCA1):c.861C>G (p.Asn287Lys)
|
rs1064794692
|
|
|
NM_007294.4(BRCA1):c.866G>A (p.Ser289Asn)
|
rs776999497
|
|
|
NM_007294.4(BRCA1):c.871T>G (p.Leu291Val)
|
|
|
|
NM_007294.4(BRCA1):c.877A>C (p.Thr293Pro)
|
rs1555592945
|
|
|
NM_007294.4(BRCA1):c.878C>T (p.Thr293Ile)
|
rs747172803
|
|
|
NM_007294.4(BRCA1):c.879T>C (p.Thr293=)
|
rs139433219
|
|
|
NM_007294.4(BRCA1):c.880A>G (p.Lys294Glu)
|
rs1567801705
|
|
|
NM_007294.4(BRCA1):c.888A>C (p.Arg296Ser)
|
|
|
|
NM_007294.4(BRCA1):c.889A>C (p.Met297Leu)
|
rs80357196
|
|
|
NM_007294.4(BRCA1):c.889A>G (p.Met297Val)
|
rs80357196
|
|
|
NM_007294.4(BRCA1):c.890T>A (p.Met297Lys)
|
rs80356924
|
|
|
NM_007294.4(BRCA1):c.896T>C (p.Val299Ala)
|
rs1597879349
|
|
|
NM_007294.4(BRCA1):c.898G>A (p.Glu300Lys)
|
rs886040330
|
|
|
NM_007294.4(BRCA1):c.900A>C (p.Glu300Asp)
|
rs80356861
|
|
|
NM_007294.4(BRCA1):c.902A>G (p.Lys301Arg)
|
rs878854965
|
|
|
NM_007294.4(BRCA1):c.903G>T (p.Lys301Asn)
|
rs1038244014
|
|
|
NM_007294.4(BRCA1):c.910T>C (p.Phe304Leu)
|
rs1567801570
|
|
|
NM_007294.4(BRCA1):c.913T>C (p.Cys305Arg)
|
rs1597879229
|
|
|
NM_007294.4(BRCA1):c.914G>A (p.Cys305Tyr)
|
rs751124745
|
|
|
NM_007294.4(BRCA1):c.922A>G (p.Ser308Gly)
|
rs55767801
|
|
|
NM_007294.4(BRCA1):c.926A>C (p.Lys309Thr)
|
rs80356877
|
|
|
NM_007294.4(BRCA1):c.929A>C (p.Gln310Pro)
|
rs1597879098
|
|
|
NM_007294.4(BRCA1):c.931C>T (p.Pro311Ser)
|
|
|
|
NM_007294.4(BRCA1):c.932C>T (p.Pro311Leu)
|
rs1301795658
|
|
|
NM_007294.4(BRCA1):c.941C>T (p.Ala314Val)
|
rs863224766
|
|
|
NM_007294.4(BRCA1):c.944G>A (p.Arg315Lys)
|
rs1555592792
|
|
|
NM_007294.4(BRCA1):c.947G>A (p.Ser316Asn)
|
rs1465372282
|
|
|
NM_007294.4(BRCA1):c.948C>A (p.Ser316Arg)
|
rs1555592782
|
|
|
NM_007294.4(BRCA1):c.948C>G (p.Ser316Arg)
|
rs1555592782
|
|
|
NM_007294.4(BRCA1):c.953A>G (p.His318Arg)
|
rs776278453
|
|
|
NM_007294.4(BRCA1):c.954T>A (p.His318Gln)
|
rs1135401826
|
|
|
NM_007294.4(BRCA1):c.955A>G (p.Asn319Asp)
|
|
|
|
NM_007294.4(BRCA1):c.956A>C (p.Asn319Thr)
|
|
|
|
NM_007294.4(BRCA1):c.964G>A (p.Ala322Thr)
|
rs80357252
|
|
|
NM_007294.4(BRCA1):c.964G>C (p.Ala322Pro)
|
rs80357252
|
|
|
NM_007294.4(BRCA1):c.967G>A (p.Gly323Arg)
|
rs1597878824
|
|
|
NM_007294.4(BRCA1):c.971G>A (p.Ser324Asn)
|
rs1462728426
|
|
|
NM_007294.4(BRCA1):c.97G>C (p.Glu33Gln)
|
rs80357066
|
|
|
NM_007294.4(BRCA1):c.983G>A (p.Cys328Tyr)
|
rs1567801307
|
|
|
NM_007294.4(BRCA1):c.986A>G (p.Asn329Ser)
|
|
|
|
NM_007294.4(BRCA1):c.993G>C (p.Arg331Ser)
|
rs80357140
|
|
|
NM_007294.4(BRCA1):c.994C>G (p.Arg332Gly)
|
rs80357176
|
|
|
NM_007294.4(BRCA1):c.998C>G (p.Thr333Ser)
|
rs431825420
|
|
|
NM_007294.4(BRCA1):c.998C>T (p.Thr333Ile)
|
rs431825420
|
|
|
NM_007317.3(KIF22):c.1137G>C (p.Gln379His)
|
|
|
|
NM_007317.3(KIF22):c.576G>A (p.Ser192=)
|
rs11545431
|
|
|
NM_007325.5(GRIA3):c.1236A>C (p.Gln412His)
|
rs2045454194
|
|
|
NM_007325.5(GRIA3):c.162C>T (p.Ala54=)
|
rs758158942
|
|
|
NM_007325.5(GRIA3):c.425G>A (p.Arg142His)
|
|
|
|
NM_007325.5(GRIA3):c.43G>A (p.Val15Ile)
|
|
|
|
NM_007347.5(AP4E1):c.1694C>A (p.Ala565Glu)
|
rs142762839
|
|
|
NM_007347.5(AP4E1):c.1694C>T (p.Ala565Val)
|
rs142762839
|
|
|
NM_007348.4(ATF6):c.17G>T (p.Gly6Val)
|
rs200220130
|
|
|
NM_007374.3(SIX6):c.18C>A (p.Ile6=)
|
rs150715226
|
|
|
NM_007374.3(SIX6):c.573-6C>G
|
rs770759922
|
|
|
NM_012062.5(DNM1L):c.*21_*22delinsCT
|
rs34421401
|
|
|
NM_012062.5(DNM1L):c.1639C>T (p.Pro547Ser)
|
rs767021397
|
|
|
NM_012062.5(DNM1L):c.457-10_457-7del
|
rs769118365
|
|
|
NM_012079.6(DGAT1):c.820C>A (p.Arg274=)
|
rs199537660
|
|
|
NM_012092.4(ICOS):c.501+6C>G
|
rs4264550
|
|
|
NM_012096.3(APPL1):c.1930_1933del (p.Glu643_Arg644insTer)
|
rs757479184
|
|
|
NM_012114.3(CASP14):c.462_463del (p.Asp154fs)
|
rs769277893
|
|
|
NM_012144.4(DNAI1):c.1265_1267del (p.Phe422del)
|
rs567346433
|
|
|
NM_012144.4(DNAI1):c.1599C>A (p.Leu533=)
|
rs150785761
|
|
|
NM_012186.3(FOXE3):c.834C>T (p.Pro278=)
|
rs886042525
|
|
|
NM_012203.2(GRHPR):c.666C>G (p.Thr222=)
|
rs146227450
|
|
|
NM_012208.4(HARS2):c.1439G>T (p.Arg480Leu)
|
rs200089613
|
|
|
NM_012210.4(TRIM32):c.1710G>A (p.Ser570=)
|
rs555217187
|
|
|
NM_012210.4(TRIM32):c.319C>T (p.Leu107=)
|
rs886042410
|
|
|
NM_012210.4(TRIM32):c.633T>C (p.Ala211=)
|
rs753960738
|
|
|
NM_012213.3(MLYCD):c.1424A>G (p.Lys475Arg)
|
rs200413924
|
|
|
NM_012213.3(MLYCD):c.929G>A (p.Arg310Gln)
|
rs146465073
|
|
|
NM_012213.3(MLYCD):c.984G>T (p.Leu328=)
|
rs765416276
|
|
|
NM_012232.6(CAVIN1):c.553_570dup (p.Glu185_Glu190dup)
|
rs537998274
|
|
|
NM_012233.3(RAB3GAP1):c.18+4A>G
|
rs550325115
|
|
|
NM_012233.3(RAB3GAP1):c.2800C>T (p.Pro934Ser)
|
rs77535003
|
|
|
NM_012238.5(SIRT1):c.403GCG[4] (p.Ala139del)
|
|
|
|
NM_012243.3(SLC35A3):c.516A>G (p.Gln172=)
|
rs1282648211
|
|
|
NM_012243.3(SLC35A3):c.888-10T>A
|
rs750539187
|
|
|
NM_012254.3(SLC27A5):c.309G>A (p.Lys103=)
|
rs956885811
|
|
|
NM_012254.3(SLC27A5):c.813G>T (p.Ala271=)
|
rs559467414
|
|
|
NM_012268.4(PLD3):c.1052G>A (p.Arg351Gln)
|
|
|
|
NM_012268.4(PLD3):c.1124G>A (p.Arg375Gln)
|
|
|
|
NM_012330.4(KAT6B):c.3341C>T (p.Thr1114Met)
|
rs755451488
|
|
|
NM_012418.4(FSCN2):c.1057G>A (p.Val353Met)
|
rs144409045
|
|
|
NM_012434.5(SLC17A5):c.1176C>T (p.Ala392=)
|
rs372195490
|
|
|
NM_012434.5(SLC17A5):c.1278G>T (p.Leu426=)
|
rs1167569087
|
|
|
NM_012448.4(STAT5B):c.90G>A (p.Val30=)
|
rs2144296728
|
|
|
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=)
|
rs139785866
|
|
|
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu)
|
rs143509747
|
|
|
NM_012463.4(ATP6V0A2):c.840C>T (p.Thr280=)
|
rs139680786
|
|
|
NM_012469.4(PRPF6):c.2431+15_2431+36dup
|
rs771425756
|
|
|
NM_012470.4(TNPO3):c.1105A>G (p.Ile369Val)
|
|
|
|
NM_012470.4(TNPO3):c.2274-5A>G
|
rs567711266
|
|
|
NM_012470.4(TNPO3):c.831G>C (p.Glu277Asp)
|
|
|
|
NM_012472.6(DNAAF11):c.574C>G (p.Gln192Glu)
|
rs141945265
|
|
|
NM_013247.5(HTRA2):c.825T>C (p.Val275=)
|
rs777650346
|
|
|
NM_013254.4(TBK1):c.2139-7G>A
|
rs534404556
|
|
|
NM_013254.4(TBK1):c.813-7A>C
|
rs376075252
|
|
|
NM_013275.6(ANKRD11):c.1652_1666del (p.Trp551_Ser555del)
|
rs780150752
|
|
|
NM_013275.6(ANKRD11):c.6115G>A (p.Asp2039Asn)
|
|
|
|
NM_013296.5(GPSM2):c.1472G>C (p.Gly491Ala)
|
rs147906282
|
|
|
NM_013296.5(GPSM2):c.515AAG[1] (p.Glu173del)
|
rs145997327
|
|
|
NM_013339.4(ALG6):c.1127+8A>C
|
rs756307525
|
|
|
NM_013339.4(ALG6):c.450C>A (p.Ile150=)
|
rs1644492796
|
|
|
NM_013339.4(ALG6):c.495A>G (p.Gln165=)
|
rs886046471
|
|
|
NM_013382.7(POMT2):c.1726-9A>T
|
rs747493997
|
|
|
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln)
|
rs151103906
|
|
|
NM_013447.4(ADGRE2):c.106G>A (p.Asp36Asn)
|
|
|
|
NM_014000.3(VCL):c.1157A>G (p.Lys386Arg)
|
rs200342284
|
|
|
NM_014000.3(VCL):c.1296_1297inv (p.Arg433Cys)
|
|
|
|
NM_014000.3(VCL):c.1704G>A (p.Gln568=)
|
rs1839959715
|
|
|
NM_014000.3(VCL):c.1973T>C (p.Val658Ala)
|
rs372691803
|
|
|
NM_014000.3(VCL):c.2862_2864del (p.Leu955del)
|
rs397517237
|
|
|
NM_014000.3(VCL):c.622+4C>G
|
rs201020802
|
|
|
NM_014000.3(VCL):c.789T>C (p.Thr263=)
|
rs538002543
|
|
|
NM_014008.5(CCDC22):c.1150C>T (p.Arg384Cys)
|
rs143790434
|
|
|
NM_014014.5(SNRNP200):c.3897C>G (p.Thr1299=)
|
rs144934076
|
|
|
NM_014023.4(WDR37):c.1103+10G>A
|
rs377333387
|
|
|
NM_014043.4(CHMP2B):c.531+8C>T
|
rs374796686
|
|
|
NM_014049.5(ACAD9):c.1278+6T>C
|
|
|
|
NM_014112.5(TRPS1):c.933G>A (p.Arg311=)
|
rs886043713
|
|
|
NM_014140.4(SMARCAL1):c.1485+8G>A
|
rs886055617
|
|
|
NM_014140.4(SMARCAL1):c.2295G>A (p.Glu765=)
|
rs1301876154
|
|
|
NM_014140.4(SMARCAL1):c.863-4G>T
|
rs1693689203
|
|
|
NM_014140.4(SMARCAL1):c.961G>A (p.Gly321Ser)
|
rs371378288
|
|
|
NM_014141.6(CNTNAP2):c.1348+13T>G
|
rs200282837
|
|
|
NM_014141.6(CNTNAP2):c.1566G>A (p.Gln522=)
|
rs535454043
|
|
|
NM_014141.6(CNTNAP2):c.2136C>T (p.Asn712=)
|
rs187552025
|
|
|
NM_014141.6(CNTNAP2):c.286A>G (p.Ser96Gly)
|
rs540745201
|
|
|
NM_014141.6(CNTNAP2):c.3193C>A (p.Leu1065Ile)
|
rs146225600
|
|
|
NM_014141.6(CNTNAP2):c.3595G>T (p.Ala1199Ser)
|
rs727503878
|
|
|
NM_014141.6(CNTNAP2):c.3678C>T (p.Ser1226=)
|
rs201219937
|
|
|
NM_014141.6(CNTNAP2):c.3716-5_3716-4insCTGT
|
rs60451214
|
|
|
NM_014141.6(CNTNAP2):c.550+10G>A
|
rs776175685
|
|
|
NM_014141.6(CNTNAP2):c.600C>T (p.Phe200=)
|
rs752019151
|
|
|
NM_014141.6(CNTNAP2):c.945C>G (p.Thr315=)
|
rs794727872
|
|
|
NM_014159.7(SETD2):c.1414C>T (p.Arg472Cys)
|
rs771203643
|
|
|
NM_014159.7(SETD2):c.746C>T (p.Ser249Phe)
|
|
|
|
NM_014208.3(DSPP):c.2002AGT[1] (p.Ser669del)
|
rs745344342
|
|
|
NM_014225.6(PPP2R1A):c.1129-7_1129-3del
|
rs1064797248
|
|
|
NM_014236.4(GNPAT):c.1752C>T (p.Cys584=)
|
rs775776447
|
|
|
NM_014236.4(GNPAT):c.569-11del
|
rs199905093
|
|
|
NM_014244.5(ADAMTS2):c.119CCG[5] (p.Ala43dup)
|
rs1174228917
|
|
|
NM_014244.5(ADAMTS2):c.1308G>C (p.Ala436=)
|
rs41285549
|
|
|
NM_014244.5(ADAMTS2):c.183C>G (p.Pro61=)
|
rs375775300
|
|
|
NM_014244.5(ADAMTS2):c.1848C>G (p.Pro616=)
|
rs569510744
|
|
|
NM_014244.5(ADAMTS2):c.1869C>T (p.Arg623=)
|
rs376058580
|
|
|
NM_014244.5(ADAMTS2):c.1977C>T (p.Cys659=)
|
rs758599662
|
|
|
NM_014244.5(ADAMTS2):c.2015G>T (p.Arg672Leu)
|
rs200806292
|
|
|
NM_014244.5(ADAMTS2):c.2382G>A (p.Glu794=)
|
rs745407557
|
|
|
NM_014244.5(ADAMTS2):c.258C>G (p.Ala86=)
|
rs886060497
|
|
|
NM_014244.5(ADAMTS2):c.3012C>G (p.Thr1004=)
|
rs571054777
|
|
|
NM_014244.5(ADAMTS2):c.3078C>T (p.Gly1026=)
|
rs886060491
|
|
|
NM_014244.5(ADAMTS2):c.447G>A (p.Glu149=)
|
rs886060496
|
|
|
NM_014244.5(ADAMTS2):c.47TGC[7] (p.Leu23del)
|
rs568040559
|
|
|
NM_014244.5(ADAMTS2):c.71CGC[4] (p.Pro26dup)
|
rs763392299
|
|
|
NM_014244.5(ADAMTS2):c.919T>C (p.Leu307=)
|
rs1764038673
|
|
|
NM_014249.4(NR2E3):c.1182C>T (p.Thr394=)
|
rs2140294988
|
|
|
NM_014251.3(SLC25A13):c.848+9G>T
|
rs201395793
|
|
|
NM_014252.4(SLC25A15):c.45G>A (p.Ala15=)
|
rs200958757
|
|
|
NM_014263.4(YME1L1):c.168+1417C>T
|
|
|
|
NM_014264.5(PLK4):c.1442G>T (p.Gly481Val)
|
rs1409755064
|
|
|
NM_014297.5(ETHE1):c.376-5G>C
|
rs886054479
|
|
|
NM_014297.5(ETHE1):c.378G>T (p.Ala126=)
|
rs138427304
|
|
|
NM_014314.4(RIGI):c.301G>C (p.Glu101Gln)
|
|
|
|
NM_014314.4(RIGI):c.364G>A (p.Asp122Asn)
|
|
|
|
NM_014317.5(PDSS1):c.74C>T (p.Ser25Phe)
|
rs863224160
|
|
|
NM_014324.6(AMACR):c.109C>A (p.Pro37Thr)
|
rs199734111
|
|
|
NM_014324.6(AMACR):c.27G>A (p.Val9=)
|
rs780679627
|
|
|
NM_014324.6(AMACR):c.289C>A (p.Arg97=)
|
rs757072374
|
|
|
NM_014324.6(AMACR):c.553-5C>A
|
rs1753722683
|
|
|
NM_014334.4(FRRS1L):c.260C>G (p.Pro87Arg)
|
rs768169514
|
|
|
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del)
|
rs281865195
|
|
|
NM_014336.5(AIPL1):c.970C>A (p.Arg324=)
|
rs375096209
|
|
|
NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu)
|
rs150427474
|
|
|
NM_014336.5(AIPL1):c.98T>C (p.Val33Ala)
|
rs16955859
|
|
|
NM_014339.7(IL17RA):c.1233C>T (p.Ala411=)
|
rs552425210
|
|
|
NM_014339.7(IL17RA):c.1632G>C (p.Pro544=)
|
rs550947413
|
|
|
NM_014339.7(IL17RA):c.641C>T (p.Ala214Val)
|
rs558799480
|
|
|
NM_014339.7(IL17RA):c.894C>T (p.Ser298=)
|
rs374537654
|
|
|
NM_014363.6(SACS):c.10158A>G (p.Ala3386=)
|
rs775633710
|
|
|
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu)
|
rs144179865
|
|
|
NM_014363.6(SACS):c.1061C>G (p.Thr354Ser)
|
rs1425519295
|
|
|
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu)
|
rs148286091
|
|
|
NM_014363.6(SACS):c.10716C>G (p.Pro3572=)
|
rs886050077
|
|
|
NM_014363.6(SACS):c.10765A>G (p.Ile3589Val)
|
|
|
|
NM_014363.6(SACS):c.10766T>C (p.Ile3589Thr)
|
|
|
|
NM_014363.6(SACS):c.11109C>T (p.Ser3703=)
|
rs1883570677
|
|
|
NM_014363.6(SACS):c.11296G>A (p.Val3766Ile)
|
|
|
|
NM_014363.6(SACS):c.12533C>T (p.Pro4178Leu)
|
|
|
|
NM_014363.6(SACS):c.12618T>C (p.Ile4206=)
|
rs1883457103
|
|
|
NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser)
|
rs370655945
|
|
|
NM_014363.6(SACS):c.13244A>G (p.Gln4415Arg)
|
|
|
|
NM_014363.6(SACS):c.13563T>C (p.Asn4521=)
|
rs766497653
|
|
|
NM_014363.6(SACS):c.13610G>A (p.Arg4537Lys)
|
|
|
|
NM_014363.6(SACS):c.1498G>A (p.Val500Ile)
|
rs1244967438
|
|
|
NM_014363.6(SACS):c.1543C>T (p.Arg515Cys)
|
|
|
|
NM_014363.6(SACS):c.2180C>G (p.Thr727Ser)
|
|
|
|
NM_014363.6(SACS):c.2182C>G (p.Arg728Gly)
|
rs752059006
|
|
|
NM_014363.6(SACS):c.247T>C (p.Leu83=)
|
rs1470292816
|
|
|
NM_014363.6(SACS):c.2572T>G (p.Ser858Ala)
|
|
|
|
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser)
|
rs139993038
|
|
|
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)
|
rs144267558
|
|
|
NM_014363.6(SACS):c.3769G>A (p.Gly1257Arg)
|
|
|
|
NM_014363.6(SACS):c.3915T>C (p.His1305=)
|
rs767598017
|
|
|
NM_014363.6(SACS):c.4279C>A (p.Pro1427Thr)
|
rs527513599
|
|
|
NM_014363.6(SACS):c.4538G>C (p.Gly1513Ala)
|
|
|
|
NM_014363.6(SACS):c.477C>T (p.Tyr159=)
|
rs1870531490
|
|
|
NM_014363.6(SACS):c.4986G>A (p.Thr1662=)
|
rs755523201
|
|
|
NM_014363.6(SACS):c.5188A>C (p.Ser1730Arg)
|
|
|
|
NM_014363.6(SACS):c.5462G>A (p.Cys1821Tyr)
|
|
|
|
NM_014363.6(SACS):c.5711C>G (p.Thr1904Arg)
|
rs758570844
|
|
|
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val)
|
rs537408260
|
|
|
NM_014363.6(SACS):c.6179T>C (p.Val2060Ala)
|
|
|
|
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala)
|
rs556248979
|
|
|
NM_014363.6(SACS):c.7163C>T (p.Thr2388Ile)
|
|
|
|
NM_014363.6(SACS):c.7306A>G (p.Ile2436Val)
|
rs567650774
|
|
|
NM_014363.6(SACS):c.744A>G (p.Ala248=)
|
rs1448438600
|
|
|
NM_014363.6(SACS):c.751G>A (p.Val251Ile)
|
rs776176699
|
|
|
NM_014363.6(SACS):c.7713A>T (p.Pro2571=)
|
rs557113294
|
|
|
NM_014363.6(SACS):c.7993C>T (p.Arg2665Cys)
|
|
|
|
NM_014363.6(SACS):c.8022T>C (p.Phe2674=)
|
rs34928783
|
|
|
NM_014363.6(SACS):c.8022T>G (p.Phe2674Leu)
|
rs34928783
|
|
|
NM_014363.6(SACS):c.8362G>A (p.Val2788Ile)
|
|
|
|
NM_014363.6(SACS):c.8795G>A (p.Arg2932Gln)
|
|
|
|
NM_014363.6(SACS):c.8819C>T (p.Thr2940Ile)
|
|
|
|
NM_014363.6(SACS):c.8853T>G (p.Val2951=)
|
rs9552929
|
|
|
NM_014363.6(SACS):c.9245G>A (p.Cys3082Tyr)
|
|
|
|
NM_014363.6(SACS):c.9359G>T (p.Arg3120Leu)
|
rs569955570
|
|
|
NM_014363.6(SACS):c.972C>A (p.Asp324Glu)
|
rs546652936
|
|
|
NM_014365.3(HSPB8):c.*848TAA[9]
|
rs60924821
|
|
|
NM_014365.3(HSPB8):c.432-10T>A
|
rs368810689
|
|
|
NM_014391.3(ANKRD1):c.154C>T (p.Pro52Ser)
|
rs397517248
|
|
|
NM_014391.3(ANKRD1):c.346-11T>A
|
rs1371295947
|
|
|
NM_014391.3(ANKRD1):c.346-12_346-11insTATA
|
rs766545285
|
|
|
NM_014391.3(ANKRD1):c.346-15_346-14del
|
rs794728971
|
|
|
NM_014391.3(ANKRD1):c.346-17_346-10del
|
rs397517250
|
|
|
NM_014391.3(ANKRD1):c.346-21ATTT[2]
|
rs397517250
|
|
|
NM_014391.3(ANKRD1):c.346-29_346-12del
|
rs72003210
|
|
|
NM_014391.3(ANKRD1):c.346-43AT[13]
|
rs60406118
|
|
|
NM_014391.3(ANKRD1):c.553-3T>C
|
rs1554827672
|
|
|
NM_014402.5(UQCRQ):c.95C>T (p.Thr32Ile)
|
rs863224260
|
|
|
NM_014423.4(AFF4):c.2108C>T (p.Ser703Leu)
|
rs1581278077
|
|
|
NM_014423.4(AFF4):c.2207C>T (p.Pro736Leu)
|
|
|
|
NM_014423.4(AFF4):c.2656T>A (p.Ser886Thr)
|
|
|
|
NM_014423.4(AFF4):c.529C>T (p.Arg177Cys)
|
|
|
|
NM_014425.5(INVS):c.907-13dup
|
rs750082874
|
|
|
NM_014444.5(TUBGCP4):c.1066-10C>G
|
rs200550774
|
|
|
NM_014467.3(SRPX2):c.605G>A (p.Arg202Gln)
|
rs200784551
|
|
|
NM_014491.4(FOXP2):c.1434A>T (p.Arg478=)
|
rs201343293
|
|
|
NM_014588.6(VSX1):c.479G>A (p.Gly160Asp)
|
rs74315433
|
|
|
NM_014629.4(ARHGEF10):c.1529C>T (p.Thr510Ile)
|
|
|
|
NM_014629.4(ARHGEF10):c.1583G>A (p.Arg528Gln)
|
|
|
|
NM_014629.4(ARHGEF10):c.3737C>T (p.Ser1246Leu)
|
|
|
|
NM_014629.4(ARHGEF10):c.827G>C (p.Ser276Thr)
|
|
|
|
NM_014629.4(ARHGEF10):c.831C>G (p.Asn277Lys)
|
rs756594069
|
|
|
NM_014633.5(CTR9):c.3095+4G>A
|
|
|
|
NM_014639.4(SKIC3):c.1783C>G (p.Pro595Ala)
|
rs751343448
|
|
|
NM_014639.4(SKIC3):c.2292-7C>T
|
rs1554050960
|
|
|
NM_014639.4(SKIC3):c.4310G>T (p.Ser1437Ile)
|
rs755895621
|
|
|
NM_014639.4(SKIC3):c.4497-14dup
|
rs755628334
|
|
|
NM_014687.4(RUBCN):c.2429G>A (p.Arg810Gln)
|
|
|
|
NM_014712.3(SETD1A):c.2928+3G>A
|
rs1596681011
|
|
|
NM_014712.3(SETD1A):c.655C>T (p.Arg219Cys)
|
|
|
|
NM_014714.4(IFT140):c.2997+8C>G
|
rs372183503
|
|
|
NM_014714.4(IFT140):c.3215G>A (p.Arg1072Gln)
|
rs201884886
|
|
|
NM_014714.4(IFT140):c.3513G>A (p.Ala1171=)
|
rs763709094
|
|
|
NM_014714.4(IFT140):c.3660+13C>T
|
rs767836990
|
|
|
NM_014714.4(IFT140):c.4208GGC[4] (p.Arg1405dup)
|
rs754312950
|
|
|
NM_014714.4(IFT140):c.481C>G (p.Pro161Ala)
|
rs148462329
|
|
|
NM_014714.4(IFT140):c.772A>T (p.Thr258Ser)
|
rs141254616
|
|
|
NM_014714.4(IFT140):c.867C>G (p.Ser289Arg)
|
rs145858131
|
|
|
NM_014714.4(IFT140):c.867C>T (p.Ser289=)
|
rs145858131
|
|
|
NM_014727.3(KMT2B):c.1211C>T (p.Pro404Leu)
|
|
|
|
NM_014727.3(KMT2B):c.1650C>G (p.Asp550Glu)
|
|
|
|
NM_014727.3(KMT2B):c.1693C>T (p.Pro565Ser)
|
|
|
|
NM_014727.3(KMT2B):c.1790C>T (p.Pro597Leu)
|
|
|
|
NM_014727.3(KMT2B):c.1918T>A (p.Ser640Thr)
|
|
|
|
NM_014727.3(KMT2B):c.205C>T (p.Arg69Cys)
|
|
|
|
NM_014727.3(KMT2B):c.2797G>A (p.Gly933Arg)
|
|
|
|
NM_014727.3(KMT2B):c.4025C>T (p.Thr1342Ile)
|
|
|
|
NM_014727.3(KMT2B):c.4028G>A (p.Arg1343His)
|
|
|
|
NM_014727.3(KMT2B):c.4198C>T (p.Arg1400Cys)
|
|
|
|
NM_014727.3(KMT2B):c.4379A>G (p.His1460Arg)
|
|
|
|
NM_014727.3(KMT2B):c.4534G>A (p.Asp1512Asn)
|
|
|
|
NM_014727.3(KMT2B):c.475A>T (p.Thr159Ser)
|
|
|
|
NM_014727.3(KMT2B):c.5744G>A (p.Arg1915His)
|
rs746724776
|
|
|
NM_014727.3(KMT2B):c.6056G>C (p.Gly2019Ala)
|
|
|
|
NM_014727.3(KMT2B):c.6236G>A (p.Arg2079Gln)
|
|
|
|
NM_014727.3(KMT2B):c.6332C>T (p.Ser2111Leu)
|
|
|
|
NM_014727.3(KMT2B):c.6413C>T (p.Pro2138Leu)
|
rs772818778
|
|
|
NM_014727.3(KMT2B):c.6518G>A (p.Arg2173Gln)
|
|
|
|
NM_014727.3(KMT2B):c.6782C>A (p.Thr2261Lys)
|
|
|
|
NM_014727.3(KMT2B):c.6883T>A (p.Tyr2295Asn)
|
|
|
|
NM_014727.3(KMT2B):c.6968G>A (p.Arg2323His)
|
|
|
|
NM_014727.3(KMT2B):c.7260T>C (p.Ser2420=)
|
rs760291756
|
|
|
NM_014727.3(KMT2B):c.7428C>A (p.Ala2476=)
|
rs368560676
|
|
|
NM_014727.3(KMT2B):c.976GGTCAA[2] (p.326GQ[2])
|
rs756646242
|
|
|
NM_014738.6(TMEM94):c.1672C>T (p.Leu558=)
|
|
|
|
NM_014780.5(CUL7):c.1782G>A (p.Ala594=)
|
rs369092411
|
|
|
NM_014780.5(CUL7):c.2229C>G (p.Ala743=)
|
rs188565648
|
|
|
NM_014780.5(CUL7):c.2581C>T (p.Pro861Ser)
|
rs147452416
|
|
|
NM_014780.5(CUL7):c.2754G>A (p.Thr918=)
|
rs138777262
|
|
|
NM_014795.4(ZEB2):c.1534G>A (p.Gly512Ser)
|
rs141781307
|
|
|
NM_014795.4(ZEB2):c.1542G>A (p.Pro514=)
|
rs141674976
|
|
|
NM_014795.4(ZEB2):c.1542G>T (p.Pro514=)
|
rs141674976
|
|
|
NM_014795.4(ZEB2):c.1875C>T (p.Ala625=)
|
rs752759296
|
|
|
NM_014795.4(ZEB2):c.2226A>T (p.Pro742=)
|
rs540345773
|
|
|
NM_014795.4(ZEB2):c.2255C>G (p.Thr752Arg)
|
rs143438888
|
|
|
NM_014795.4(ZEB2):c.2495C>A (p.Ala832Asp)
|
rs730881179
|
|
|
NM_014795.4(ZEB2):c.2627A>G (p.Asp876Gly)
|
rs779103467
|
|
|
NM_014795.4(ZEB2):c.2707G>T (p.Ala903Ser)
|
rs730881200
|
|
|
NM_014795.4(ZEB2):c.2752C>T (p.Pro918Ser)
|
rs1560605894
|
|
|
NM_014795.4(ZEB2):c.797G>A (p.Gly266Glu)
|
rs1057522361
|
|
|
NM_014795.4(ZEB2):c.82_87del (p.Tyr28_Asp29del)
|
rs730881214
|
|
|
NM_014804.3(KIAA0753):c.2678C>G (p.Pro893Arg)
|
rs112740973
|
|
|
NM_014813.3(LRIG2):c.1649G>A (p.Arg550His)
|
|
|
|
NM_014844.5(TECPR2):c.1397AGA[5] (p.Lys471del)
|
rs572609303
|
|
|
NM_014844.5(TECPR2):c.3456C>T (p.Ser1152=)
|
rs199827410
|
|
|
NM_014844.5(TECPR2):c.423A>G (p.Lys141=)
|
rs756199626
|
|
|
NM_014844.5(TECPR2):c.726A>T (p.Leu242=)
|
rs748794723
|
|
|
NM_014845.6(FIG4):c.1583+3A>G
|
rs866431185
|
|
|
NM_014845.6(FIG4):c.2097-10C>G
|
rs142482745
|
|
|
NM_014845.6(FIG4):c.2547-5T>G
|
rs200267243
|
|
|
NM_014845.6(FIG4):c.640G>A (p.Gly214Arg)
|
rs529048339
|
|
|
NM_014855.3(AP5Z1):c.1018C>T (p.Pro340Ser)
|
rs561646689
|
|
|
NM_014855.3(AP5Z1):c.1573A>C (p.Lys525Gln)
|
rs186003800
|
|
|
NM_014855.3(AP5Z1):c.1740G>A (p.Ala580=)
|
rs773950276
|
|
|
NM_014855.3(AP5Z1):c.1794C>T (p.Ala598=)
|
rs374673921
|
|
|
NM_014855.3(AP5Z1):c.2151C>T (p.Pro717=)
|
rs1781745482
|
|
|
NM_014855.3(AP5Z1):c.969+3_969+6dup
|
rs748280348
|
|
|
NM_014865.4(NCAPD2):c.1612G>C (p.Glu538Gln)
|
|
|
|
NM_014874.4(MFN2):c.1716+8A>G
|
rs1639390139
|
|
|
NM_014874.4(MFN2):c.1920C>G (p.Leu640=)
|
rs141468012
|
|
|
NM_014875.3(KIF14):c.4782G>C (p.Trp1594Cys)
|
rs764577786
|
|
|
NM_014889.4(PITRM1):c.2604A>C (p.Glu868Asp)
|
|
|
|
NM_014915.3(ANKRD26):c.2053G>A (p.Asp685Asn)
|
|
|
|
NM_014915.3(ANKRD26):c.228A>C (p.Arg76Ser)
|
|
|
|
NM_014915.3(ANKRD26):c.240C>T (p.Asn80=)
|
|
|
|
NM_014915.3(ANKRD26):c.371A>T (p.Gln124Leu)
|
rs200100926
|
|
|
NM_014915.3(ANKRD26):c.4564A>G (p.Met1522Val)
|
|
|
|
NM_014915.3(ANKRD26):c.4651G>A (p.Glu1551Lys)
|
|
|
|
NM_014915.3(ANKRD26):c.521C>G (p.Ala174Gly)
|
|
|
|
NM_014946.4(SPAST):c.*372TTGT[2]
|
rs756347073
|
|
|
NM_014946.4(SPAST):c.129G>C (p.Glu43Asp)
|
rs542793579
|
|
|
NM_014946.4(SPAST):c.1744T>C (p.Leu582=)
|
rs886055962
|
|
|
NM_014946.4(SPAST):c.519A>G (p.Arg173=)
|
rs1677627735
|
|
|
NM_014946.4(SPAST):c.586+9_586+12del
|
rs554544808
|
|
|
NM_014956.5(CEP164):c.194+15G>T
|
rs1423887740
|
|
|
NM_014956.5(CEP164):c.380C>A (p.Pro127His)
|
rs143659874
|
|
|
NM_014956.5(CEP164):c.380C>T (p.Pro127Leu)
|
rs143659874
|
|
|
NM_014989.7(RIMS1):c.1679-20587G>A
|
rs181193740
|
|
|
NM_014989.7(RIMS1):c.2107T>A (p.Ser703Thr)
|
rs772471723
|
|
|
NM_014989.7(RIMS1):c.3116+8C>T
|
rs1277312139
|
|
|
NM_014989.7(RIMS1):c.3139del (p.Thr1047fs)
|
rs587783021
|
|
|
NM_014989.7(RIMS1):c.3959C>T (p.Ser1320Phe)
|
rs140943787
|
|
|
NM_015001.3(SPEN):c.2420G>C (p.Arg807Pro)
|
rs149173601
|
|
|
NM_015015.3(KDM4B):c.1336C>T (p.Arg446Trp)
|
|
|
|
NM_015046.7(SETX):c.3057TGA[5] (p.Asp1024del)
|
rs572772837
|
|
|
NM_015046.7(SETX):c.389-9del
|
rs534931548
|
|
|
NM_015046.7(SETX):c.4020_4022del (p.Lys1341del)
|
rs769558791
|
|
|
NM_015046.7(SETX):c.6106+3dup
|
|
|
|
NM_015046.7(SETX):c.6843-6_6843-5dup
|
rs34769225
|
|
|
NM_015046.7(SETX):c.7200-11_7200-10del
|
rs531485265
|
|
|
NM_015046.7(SETX):c.7775C>T (p.Ala2592Val)
|
rs1842534708
|
|
|
NM_015073.3(SIPA1L3):c.163GCCACC[4] (p.55AT[4])
|
|
|
|
NM_015102.5(NPHP4):c.1257C>T (p.His419=)
|
rs768393994
|
|
|
NM_015102.5(NPHP4):c.2250C>T (p.Asp750=)
|
rs201090359
|
|
|
NM_015102.5(NPHP4):c.3758G>A (p.Arg1253Gln)
|
rs560944258
|
|
|
NM_015102.5(NPHP4):c.594G>C (p.Ala198=)
|
rs141538649
|
|
|
NM_015103.3(PLXND1):c.1578C>G (p.Asp526Glu)
|
|
|
|
NM_015120.4(ALMS1):c.106_108dup (p.Ala36_Asn37insAla)
|
rs746896173
|
|
|
NM_015120.4(ALMS1):c.54_77del (p.Glu22_Glu29del)
|
rs55889738
|
|
|
NM_015135.3(NUP205):c.281C>G (p.Ala94Gly)
|
rs148613242
|
|
|
NM_015135.3(NUP205):c.5276A>G (p.Asn1759Ser)
|
|
|
|
NM_015158.5(KANK1):c.2471A>G (p.Asp824Gly)
|
|
|
|
NM_015160.3(PMPCA):c.897+6G>A
|
rs150776126
|
|
|
NM_015166.4(MLC1):c.909GCT[6] (p.Leu310del)
|
|
|
|
NM_015175.3(NBEAL2):c.4949CAGCTGCAG[2] (p.Ala1656_Ala1658del)
|
rs535036383
|
|
|
NM_015175.3(NBEAL2):c.6691+3_6691+6dup
|
rs557640338
|
|
|
NM_015178.3(RHOBTB2):c.248G>A (p.Trp83Ter)
|
rs1357068280
|
|
|
NM_015192.4(PLCB1):c.1854T>C (p.Gly618=)
|
rs559952614
|
|
|
NM_015192.4(PLCB1):c.2571G>A (p.Thr857=)
|
rs995077080
|
|
|
NM_015192.4(PLCB1):c.3135C>A (p.Val1045=)
|
rs577076166
|
|
|
NM_015202.5(KATNIP):c.1113+4C>A
|
|
|
|
NM_015213.4(DENND5A):c.2607G>A (p.Arg869=)
|
|
|
|
NM_015214.3(DDHD2):c.226_227delinsTA (p.Gly76Tyr)
|
rs797045521
|
|
|
NM_015215.4(CAMTA1):c.4304G>C (p.Ser1435Thr)
|
|
|
|
NM_015231.3(NUP160):c.2248G>A (p.Ala750Thr)
|
|
|
|
NM_015231.3(NUP160):c.4120-3T>C
|
|
|
|
NM_015231.3(NUP160):c.740C>T (p.Pro247Leu)
|
|
|
|
NM_015259.6(ICOSLG):c.862+4G>A
|
|
|
|
NM_015272.5(RPGRIP1L):c.1701C>A (p.Ala567=)
|
rs1555604462
|
|
|
NM_015272.5(RPGRIP1L):c.3220+13T>C
|
rs376659273
|
|
|
NM_015274.3(MAN2B2):c.1339C>G (p.Arg447Gly)
|
|
|
|
NM_015295.3(SMCHD1):c.162G>T (p.Ala54=)
|
rs766395572
|
|
|
NM_015295.3(SMCHD1):c.3444T>A (p.Pro1148=)
|
rs76290319
|
|
|
NM_015295.3(SMCHD1):c.4695C>T (p.Phe1565=)
|
rs757300247
|
|
|
NM_015311.3(OBSL1):c.4732_4733inv (p.Gln1578Trp)
|
|
|
|
NM_015311.3(OBSL1):c.4812C>T (p.Ala1604=)
|
rs564855597
|
|
|
NM_015311.3(OBSL1):c.4951G>T (p.Glu1651Ter)
|
rs140825693
|
|
|
NM_015311.3(OBSL1):c.892C>T (p.Arg298Cys)
|
|
|
|
NM_015330.6(SPECC1L):c.3326C>T (p.Thr1109Met)
|
rs1247798129
|
|
|
NM_015338.6(ASXL1):c.2011G>T (p.Ala671Ser)
|
rs1600586513
|
|
|
NM_015338.6(ASXL1):c.2110G>T (p.Gly704Trp)
|
rs151317625
|
|
|
NM_015338.6(ASXL1):c.2236G>A (p.Ala746Thr)
|
|
|
|
NM_015338.6(ASXL1):c.2616C>T (p.Cys872=)
|
|
|
|
NM_015338.6(ASXL1):c.3050A>C (p.Asp1017Ala)
|
rs545071926
|
|
|
NM_015338.6(ASXL1):c.3416C>A (p.Thr1139Lys)
|
|
|
|
NM_015338.6(ASXL1):c.3635C>T (p.Ser1212Phe)
|
rs542568224
|
|
|
NM_015338.6(ASXL1):c.3910C>G (p.Leu1304Val)
|
rs747267907
|
|
|
NM_015338.6(ASXL1):c.3977C>G (p.Pro1326Arg)
|
|
|
|
NM_015338.6(ASXL1):c.4247A>G (p.Glu1416Gly)
|
|
|
|
NM_015338.6(ASXL1):c.724A>G (p.Met242Val)
|
|
|
|
NM_015346.4(ZFYVE26):c.3017G>A (p.Arg1006Gln)
|
|
|
|
NM_015346.4(ZFYVE26):c.3248_3253del (p.Leu1083_Ser1084del)
|
rs761454264
|
|
|
NM_015346.4(ZFYVE26):c.4197C>T (p.Thr1399=)
|
rs35018134
|
|
|
NM_015346.4(ZFYVE26):c.4502C>T (p.Thr1501Met)
|
rs201034965
|
|
|
NM_015346.4(ZFYVE26):c.475G>C (p.Asp159His)
|
|
|
|
NM_015346.4(ZFYVE26):c.5622-10_5622-9del
|
rs768978705
|
|
|
NM_015346.4(ZFYVE26):c.715C>T (p.Leu239=)
|
|
|
|
NM_015346.4(ZFYVE26):c.7371+6C>G
|
rs894907950
|
|
|
NM_015378.4(VPS13D):c.10917+4A>G
|
|
|
|
NM_015378.4(VPS13D):c.1103A>T (p.Asp368Val)
|
|
|
|
NM_015378.4(VPS13D):c.276G>T (p.Glu92Asp)
|
|
|
|
NM_015378.4(VPS13D):c.5270A>T (p.Asp1757Val)
|
|
|
|
NM_015404.4(WHRN):c.1126G>T (p.Ala376Ser)
|
rs545251395
|
|
|
NM_015404.4(WHRN):c.2333G>A (p.Arg778Gln)
|
rs727505188
|
|
|
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser)
|
rs150586098
|
|
|
NM_015404.4(WHRN):c.2644C>T (p.Arg882Cys)
|
rs150586098
|
|
|
NM_015425.6(POLR1A):c.2565G>C (p.Gln855His)
|
|
|
|
NM_015443.4(KANSL1):c.2233A>G (p.Arg745Gly)
|
rs796052596
|
|
|
NM_015450.3(POT1):c.1829A>G (p.Tyr610Cys)
|
rs1363813360
|
|
|
NM_015465.5(GEMIN5):c.1802C>T (p.Ala601Val)
|
|
|
|
NM_015466.4(PTPN23):c.2856GCCCCA[2] (p.954QP[1])
|
rs552397269
|
|
|
NM_015466.4(PTPN23):c.2856GCCCCA[4] (p.954QP[3])
|
rs552397269
|
|
|
NM_015466.4(PTPN23):c.547-7G>A
|
|
|
|
NM_015474.4(SAMHD1):c.543A>T (p.Ala181=)
|
rs769968442
|
|
|
NM_015506.3(MMACHC):c.277-8_277-3dup
|
rs756072947
|
|
|
NM_015506.3(MMACHC):c.603T>C (p.Arg201=)
|
rs398124294
|
|
|
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg)
|
rs564280688
|
|
|
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del)
|
rs796064513
|
|
|
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser)
|
rs201025783
|
|
|
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu)
|
rs201025783
|
|
|
NM_015512.5(DNAH1):c.1114G>A (p.Ala372Thr)
|
|
|
|
NM_015512.5(DNAH1):c.9752A>G (p.Asn3251Ser)
|
|
|
|
NM_015559.3(SETBP1):c.1058_1059delinsTC (p.Asp353Val)
|
rs2145095402
|
|
|
NM_015559.3(SETBP1):c.160C>T (p.Arg54Cys)
|
rs1325528399
|
|
|
NM_015559.3(SETBP1):c.2722G>A (p.Asp908Asn)
|
|
|
|
NM_015559.3(SETBP1):c.2740C>T (p.Arg914Trp)
|
|
|
|
NM_015559.3(SETBP1):c.3847G>C (p.Glu1283Gln)
|
|
|
|
NM_015559.3(SETBP1):c.3900GAG[1] (p.Arg1301del)
|
rs754546927
|
|
|
NM_015559.3(SETBP1):c.3961C>T (p.Arg1321Cys)
|
|
|
|
NM_015559.3(SETBP1):c.428G>A (p.Arg143His)
|
|
|
|
NM_015559.3(SETBP1):c.4580C>T (p.Pro1527Leu)
|
|
|
|
NM_015559.3(SETBP1):c.470G>A (p.Ser157Asn)
|
|
|
|
NM_015559.3(SETBP1):c.557A>G (p.Gln186Arg)
|
rs751069486
|
|
|
NM_015559.3(SETBP1):c.927C>A (p.Asn309Lys)
|
rs199603131
|
|
|
NM_015570.4(AUTS2):c.1838A>G (p.Asn613Ser)
|
|
|
|
NM_015570.4(AUTS2):c.1858C>T (p.Arg620Trp)
|
|
|
|
NM_015570.4(AUTS2):c.1902+4C>T
|
|
|
|
NM_015570.4(AUTS2):c.2785G>A (p.Ala929Thr)
|
|
|
|
NM_015570.4(AUTS2):c.2786C>G (p.Ala929Gly)
|
|
|
|
NM_015570.4(AUTS2):c.3377ACC[6] (p.His1132_His1133del)
|
rs538005366
|
|
|
NM_015570.4(AUTS2):c.980G>C (p.Arg327Pro)
|
|
|
|
NM_015570.4(AUTS2):c.995C>A (p.Pro332His)
|
rs757432625
|
|
|
NM_015627.3(LDLRAP1):c.276G>A (p.Val92=)
|
rs1215026981
|
|
|
NM_015627.3(LDLRAP1):c.414C>T (p.Asn138=)
|
rs1057515536
|
|
|
NM_015627.3(LDLRAP1):c.45C>T (p.Pro15=)
|
rs1057515534
|
|
|
NM_015627.3(LDLRAP1):c.480C>T (p.Thr160=)
|
rs1057515463
|
|
|
NM_015627.3(LDLRAP1):c.604_605delinsCA (p.Ser202His)
|
rs386629678
|
|
|
NM_015634.4(KIFBP):c.557G>A (p.Arg186His)
|
|
|
|
NM_015662.3(IFT172):c.1525-6C>G
|
rs201231401
|
|
|
NM_015662.3(IFT172):c.4960A>G (p.Met1654Val)
|
rs529850410
|
|
|
NM_015693.4(INTU):c.1165G>A (p.Gly389Ser)
|
|
|
|
NM_015702.3(MMADHC):c.609+8_609+100del
|
rs1553453945
|
|
|
NM_015702.3(MMADHC):c.759A>T (p.Gly253=)
|
rs886054920
|
|
|
NM_015713.5(RRM2B):c.551-11_551-10del
|
rs771845744
|
|
|
NM_015884.4(MBTPS2):c.348CTCTTCTTCCTCTTCCTC[1] (p.Ser131_Ser136del)
|
rs762761040
|
|
|
NM_015884.4(MBTPS2):c.384TTC[1] (p.Ser136del)
|
|
|
|
NM_015909.4(NBAS):c.1091A>G (p.Tyr364Cys)
|
rs534890707
|
|
|
NM_015909.4(NBAS):c.1341+6G>A
|
|
|
|
NM_015909.4(NBAS):c.2340-10T>A
|
|
|
|
NM_015909.4(NBAS):c.3610A>G (p.Thr1204Ala)
|
|
|
|
NM_015909.4(NBAS):c.6712-10G>A
|
|
|
|
NM_015909.4(NBAS):c.767G>A (p.Cys256Tyr)
|
rs575240073
|
|
|
NM_015922.3(NSDHL):c.1108C>T (p.Arg370Trp)
|
rs151248633
|
|
|
NM_015922.3(NSDHL):c.71A>G (p.Lys24Arg)
|
|
|
|
NM_015922.3(NSDHL):c.816C>A (p.Pro272=)
|
rs1328593149
|
|
|
NM_015922.3(NSDHL):c.842G>A (p.Arg281His)
|
rs782143078
|
|
|
NM_015937.6(PIGT):c.848A>T (p.Asp283Val)
|
rs574857016
|
|
|
NM_015978.3(TNNI3K):c.2476C>G (p.Arg826Gly)
|
rs201614312
|
|
|
NM_016011.5(MECR):c.246C>T (p.Ile82=)
|
|
|
|
NM_016011.5(MECR):c.29T>G (p.Val10Gly)
|
rs200637441
|
|
|
NM_016030.6(TRAPPC12):c.1759G>A (p.Gly587Ser)
|
rs111556571
|
|
|
NM_016032.4(ZDHHC9):c.718G>C (p.Val240Leu)
|
rs770589013
|
|
|
NM_016042.4(EXOSC3):c.42C>T (p.Gly14=)
|
rs1828679645
|
|
|
NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser)
|
|
|
|
NM_016111.4(TELO2):c.1144+6C>T
|
|
|
|
NM_016111.4(TELO2):c.1969G>A (p.Val657Met)
|
|
|
|
NM_016111.4(TELO2):c.2367C>G (p.Asp789Glu)
|
|
|
|
NM_016123.4(IRAK4):c.1347+13del
|
rs751119487
|
|
|
NM_016139.4(CHCHD2):c.151C>T (p.Arg51Trp)
|
|
|
|
NM_016156.6(MTMR2):c.1770+7_1770+19delinsC
|
rs1555056865
|
|
|
NM_016156.6(MTMR2):c.184_186del (p.Arg62del)
|
rs141498429
|
|
|
NM_016156.6(MTMR2):c.56C>T (p.Pro19Leu)
|
rs574213477
|
|
|
NM_016169.4(SUFU):c.31G>C (p.Gly11Arg)
|
rs1322807658
|
|
|
NM_016180.5(SLC45A2):c.953G>T (p.Arg318Leu)
|
rs142299109
|
|
|
NM_016203.4(PRKAG2):c.224G>C (p.Gly75Ala)
|
rs199963585
|
|
|
NM_016203.4(PRKAG2):c.714G>A (p.Ala238=)
|
|
|
|
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=)
|
rs145029525
|
|
|
NM_016204.4(GDF2):c.997C>T (p.Arg333Trp)
|
rs35129734
|
|
|
NM_016213.5(TRIP4):c.1387C>A (p.His463Asn)
|
rs375004645
|
|
|
NM_016219.5(MAN1B1):c.159G>A (p.Thr53=)
|
rs774835139
|
|
|
NM_016222.4(DDX41):c.1098+6G>A
|
|
|
|
NM_016222.4(DDX41):c.1332C>T (p.Asp444=)
|
rs554494724
|
|
|
NM_016222.4(DDX41):c.138+5G>A
|
rs187714514
|
|
|
NM_016222.4(DDX41):c.1563C>T (p.Gly521=)
|
|
|
|
NM_016222.4(DDX41):c.1621+3G>A
|
|
|
|
NM_016222.4(DDX41):c.189G>C (p.Gln63His)
|
|
|
|
NM_016222.4(DDX41):c.27+9G>A
|
rs765022870
|
|
|
NM_016222.4(DDX41):c.591G>A (p.Lys197=)
|
|
|
|
NM_016239.4(MYO15A):c.10192C>T (p.His3398Tyr)
|
|
|
|
NM_016239.4(MYO15A):c.1323G>A (p.Ala441=)
|
rs376905344
|
|
|
NM_016239.4(MYO15A):c.1630C>T (p.Arg544Cys)
|
|
|
|
NM_016239.4(MYO15A):c.2257G>C (p.Ala753Pro)
|
rs776096881
|
|
|
NM_016239.4(MYO15A):c.2513C>T (p.Ser838Leu)
|
|
|
|
NM_016239.4(MYO15A):c.3122C>A (p.Pro1041His)
|
rs200587502
|
|
|
NM_016239.4(MYO15A):c.3130_3147dup (p.Ile1044_Asp1049dup)
|
rs377177611
|
|
|
NM_016239.4(MYO15A):c.374G>A (p.Arg125Gln)
|
|
|
|
NM_016239.4(MYO15A):c.4656-11del
|
rs767773802
|
|
|
NM_016239.4(MYO15A):c.5194G>C (p.Val1732Leu)
|
rs377309887
|
|
|
NM_016239.4(MYO15A):c.534C>T (p.Ala178=)
|
rs749146534
|
|
|
NM_016239.4(MYO15A):c.7961C>G (p.Thr2654Ser)
|
rs200355614
|
|
|
NM_016239.4(MYO15A):c.8513A>C (p.Asn2838Thr)
|
|
|
|
NM_016239.4(MYO15A):c.9190G>C (p.Asp3064His)
|
rs182977390
|
|
|
NM_016247.4(IMPG2):c.534-13dup
|
rs567795716
|
|
|
NM_016284.5(CNOT1):c.1525A>G (p.Ile509Val)
|
|
|
|
NM_016292.3(TRAP1):c.1165+5G>A
|
|
|
|
NM_016292.3(TRAP1):c.1681GAG[1] (p.Glu562del)
|
|
|
|
NM_016292.3(TRAP1):c.472-3C>T
|
|
|
|
NM_016335.6(PRODH):c.850-10A>G
|
|
|
|
NM_016341.4(PLCE1):c.1927G>T (p.Ala643Ser)
|
rs61886330
|
|
|
NM_016341.4(PLCE1):c.2032A>G (p.Met678Val)
|
rs201422605
|
|
|
NM_016341.4(PLCE1):c.5115G>A (p.Pro1705=)
|
|
|
|
NM_016341.4(PLCE1):c.6853GAG[1] (p.Glu2286del)
|
rs771798085
|
|
|
NM_016356.5(DCDC2):c.543C>A (p.Ser181Arg)
|
rs141060456
|
|
|
NM_016356.5(DCDC2):c.543C>T (p.Ser181=)
|
rs141060456
|
|
|
NM_016363.5(GP6):c.932CCCTCCCGC[1] (p.308PLP[2])
|
|
|
|
NM_016366.3(CABP2):c.201C>A (p.Ala67=)
|
rs138981491
|
|
|
NM_016373.4(WWOX):c.*134C>T
|
|
|
|
NM_016373.4(WWOX):c.*200GGGCT[1]
|
rs144412859
|
|
|
NM_016373.4(WWOX):c.562C>A (p.Arg188Ser)
|
rs199511589
|
|
|
NM_016373.4(WWOX):c.745C>T (p.Arg249Cys)
|
rs749277249
|
|
|
NM_016390.3(SPOUT1):c.102dup (p.Trp35Metfs)
|
rs749421754
|
|
|
NM_016417.3(GLRX5):c.-6G>A
|
|
|
|
NM_016495.6(TBC1D7):c.467G>A (p.Arg156Gln)
|
|
|
|
NM_016525.5(UBAP1):c.505C>A (p.Leu169Met)
|
|
|
|
NM_016599.5(MYOZ2):c.17C>G (p.Thr6Ser)
|
rs397517289
|
|
|
NM_016599.5(MYOZ2):c.688C>T (p.Arg230Trp)
|
rs372215131
|
|
|
NM_016604.4(KDM3B):c.1720G>A (p.Val574Ile)
|
|
|
|
NM_016604.4(KDM3B):c.3871T>C (p.Ser1291Pro)
|
rs2126994153
|
|
|
NM_016630.7(SPG21):c.177T>C (p.Phe59=)
|
rs2085872082
|
|
|
NM_016630.7(SPG21):c.321C>T (p.Gly107=)
|
rs566278586
|
|
|
NM_016729.3(FOLR1):c.510A>G (p.Ala170=)
|
rs564331848
|
|
|
NM_016938.5(EFEMP2):c.321C>T (p.Asn107=)
|
rs762409753
|
|
|
NM_017433.5(MYO3A):c.1643C>A (p.Pro548His)
|
rs143918373
|
|
|
NM_017433.5(MYO3A):c.3585G>T (p.Val1195=)
|
rs372169216
|
|
|
NM_017433.5(MYO3A):c.4567C>G (p.Arg1523Gly)
|
rs727504688
|
|
|
NM_017514.5(PLXNA3):c.370C>T (p.Arg124Cys)
|
|
|
|
NM_017534.6(MYH2):c.1068G>C (p.Thr356=)
|
rs116419997
|
|
|
NM_017534.6(MYH2):c.2478C>T (p.Ser826=)
|
rs2073428153
|
|
|
NM_017534.6(MYH2):c.3517C>A (p.Arg1173=)
|
rs767243766
|
|
|
NM_017534.6(MYH2):c.4204C>T (p.Arg1402Trp)
|
|
|
|
NM_017547.4(FOXRED1):c.470C>T (p.Ser157Leu)
|
rs778727697
|
|
|
NM_017547.4(FOXRED1):c.755G>A (p.Arg252His)
|
|
|
|
NM_017565.4(FAM20A):c.134C>A (p.Pro45Gln)
|
|
|
|
NM_017613.4(DONSON):c.786-7T>C
|
|
|
|
NM_017617.5(NOTCH1):c.1741A>G (p.Lys581Glu)
|
rs778992111
|
|
|
NM_017617.5(NOTCH1):c.17_18delinsTT (p.Ala6Val)
|
rs878855023
|
|
|
NM_017617.5(NOTCH1):c.2291A>G (p.Asn764Ser)
|
rs1454630791
|
|
|
NM_017617.5(NOTCH1):c.2326G>T (p.Val776Leu)
|
rs377286829
|
|
|
NM_017617.5(NOTCH1):c.2558_2560del (p.Phe853del)
|
rs779164170
|
|
|
NM_017617.5(NOTCH1):c.2705G>A (p.Arg902His)
|
rs373075482
|
|
|
NM_017617.5(NOTCH1):c.2864G>A (p.Arg955His)
|
rs557049479
|
|
|
NM_017617.5(NOTCH1):c.3172-5C>T
|
rs762077987
|
|
|
NM_017617.5(NOTCH1):c.3262G>A (p.Gly1088Ser)
|
rs531420022
|
|
|
NM_017617.5(NOTCH1):c.3283G>A (p.Asp1095Asn)
|
|
|
|
NM_017617.5(NOTCH1):c.3853G>T (p.Val1285Leu)
|
rs756972680
|
|
|
NM_017617.5(NOTCH1):c.4031C>T (p.Thr1344Met)
|
rs201215245
|
|
|
NM_017617.5(NOTCH1):c.4049G>T (p.Arg1350Leu)
|
rs150343794
|
|
|
NM_017617.5(NOTCH1):c.5016C>T (p.Arg1672=)
|
rs1251609154
|
|
|
NM_017617.5(NOTCH1):c.5155G>A (p.Glu1719Lys)
|
rs750085425
|
|
|
NM_017633.3(TENT5A):c.335G>T (p.Arg112Leu)
|
rs144803443
|
|
|
NM_017636.4(TRPM4):c.1908G>C (p.Val636=)
|
rs950364050
|
|
|
NM_017636.4(TRPM4):c.2154A>C (p.Thr718=)
|
rs370827464
|
|
|
NM_017636.4(TRPM4):c.2214G>A (p.Thr738=)
|
rs1490908470
|
|
|
NM_017636.4(TRPM4):c.2358C>T (p.Asn786=)
|
rs886054579
|
|
|
NM_017636.4(TRPM4):c.2529G>C (p.Gly843=)
|
rs754769591
|
|
|
NM_017636.4(TRPM4):c.2766C>A (p.Ile922=)
|
rs774680517
|
|
|
NM_017636.4(TRPM4):c.2987_3014del (p.Glu996fs)
|
rs765535147
|
|
|
NM_017649.5(CNNM2):c.2421C>A (p.Ile807=)
|
|
|
|
NM_017654.4(SAMD9):c.1800_1801del (p.Glu600fs)
|
rs375515095
|
|
|
NM_017654.4(SAMD9):c.2715G>A (p.Leu905=)
|
|
|
|
NM_017654.4(SAMD9):c.3243T>C (p.Asn1081=)
|
|
|
|
NM_017654.4(SAMD9):c.3626A>T (p.Gln1209Leu)
|
|
|
|
NM_017668.3(NDE1):c.*367T>C
|
rs138543179
|
|
|
NM_017668.3(NDE1):c.701G>A (p.Arg234His)
|
rs138255766
|
|
|
NM_017668.3(NDE1):c.947+11989AG[3]
|
rs747642850
|
|
|
NM_017668.3(NDE1):c.948-3135C>T
|
rs759760029
|
|
|
NM_017721.5(CC2D1A):c.2073+7G>A
|
rs539992718
|
|
|
NM_017721.5(CC2D1A):c.2342G>C (p.Gly781Ala)
|
rs77389229
|
|
|
NM_017721.5(CC2D1A):c.513+6_513+12del
|
rs541952457
|
|
|
NM_017721.5(CC2D1A):c.696T>G (p.Ser232=)
|
rs534160840
|
|
|
NM_017739.4(POMGNT1):c.251G>A (p.Arg84His)
|
rs373866304
|
|
|
NM_017752.3(TBC1D8B):c.1142T>C (p.Val381Ala)
|
|
|
|
NM_017752.3(TBC1D8B):c.427G>A (p.Ala143Thr)
|
|
|
|
NM_017755.5(NSUN2):c.-73C>T
|
rs139145592
|
|
|
NM_017755.6(NSUN2):c.2022C>T (p.Pro674=)
|
rs797045837
|
|
|
NM_017755.6(NSUN2):c.97-10C>T
|
rs199959678
|
|
|
NM_017757.3(ZNF407):c.391C>G (p.Leu131Val)
|
|
|
|
NM_017760.7(NCAPG2):c.79-4A>G
|
|
|
|
NM_017763.6(RNF43):c.1880T>C (p.Val627Ala)
|
rs199831923
|
|
|
NM_017777.4(MKS1):c.1158A>G (p.Glu386=)
|
rs797045705
|
|
|
NM_017780.4(CHD7):c.1405A>G (p.Arg469Gly)
|
rs868107005
|
|
|
NM_017780.4(CHD7):c.4839G>C (p.Leu1613=)
|
rs1164615393
|
|
|
NM_017780.4(CHD7):c.6553_6554delinsTT (p.Glu2185Leu)
|
rs2150810874
|
|
|
NM_017780.4(CHD7):c.7460C>T (p.Ala2487Val)
|
rs1349434680
|
|
|
NM_017780.4(CHD7):c.7503C>G (p.Ser2501=)
|
rs1805737676
|
|
|
NM_017799.4(TMEM260):c.1889A>G (p.Tyr630Cys)
|
|
|
|
NM_017827.4(SARS2):c.1530_1538dup (p.Leu511_Gly513dup)
|
rs551671819
|
|
|
NM_017831.4(RNF125):c.24C>G (p.Asp8Glu)
|
|
|
|
NM_017837.4(PIGV):c.348_349delinsAG (p.Ile117Val)
|
rs886044116
|
|
|
NM_017837.4(PIGV):c.678G>A (p.Thr226=)
|
rs769023704
|
|
|
NM_017838.4(NHP2):c.160+10A>T
|
rs376220034
|
|
|
NM_017841.4(SDHAF2):c.25A>G (p.Thr9Ala)
|
rs1554983610
|
|
|
NM_017849.4(TMEM127):c.292G>A (p.Ala98Thr)
|
rs369144563
|
|
|
NM_017852.5(NLRP2):c.1010G>A (p.Arg337Gln)
|
|
|
|
NM_017852.5(NLRP2):c.1496_1498dup (p.Tyr499dup)
|
rs753221956
|
|
|
NM_017882.3(CLN6):c.*141GT[12]
|
rs3837692
|
|
|
NM_017882.3(CLN6):c.213C>G (p.Leu71=)
|
rs146980624
|
|
|
NM_017882.3(CLN6):c.66C>T (p.Ala22=)
|
rs796052349
|
|
|
NM_017882.3(CLN6):c.83+11G>A
|
rs2093262385
|
|
|
NM_017934.7(PHIP):c.187C>T (p.Leu63=)
|
rs1774230017
|
|
|
NM_017934.7(PHIP):c.2017+6C>T
|
|
|
|
NM_017934.7(PHIP):c.2201+6G>A
|
|
|
|
NM_017934.7(PHIP):c.2538-3del
|
|
|
|
NM_017934.7(PHIP):c.2709T>A (p.Asn903Lys)
|
|
|
|
NM_017934.7(PHIP):c.2845A>G (p.Thr949Ala)
|
|
|
|
NM_017934.7(PHIP):c.2935C>T (p.Arg979Trp)
|
|
|
|
NM_017934.7(PHIP):c.2936G>A (p.Arg979Gln)
|
|
|
|
NM_017934.7(PHIP):c.3811C>G (p.Leu1271Val)
|
|
|
|
NM_017934.7(PHIP):c.4135A>G (p.Met1379Val)
|
|
|
|
NM_017946.4(FKBP14):c.493AAG[1] (p.Lys166del)
|
rs542254849
|
|
|
NM_017950.4(CCDC40):c.2169C>T (p.Ile723=)
|
rs200641382
|
|
|
NM_017950.4(CCDC40):c.2900G>A (p.Arg967His)
|
rs61686936
|
|
|
NM_017950.4(CCDC40):c.490G>A (p.Gly164Arg)
|
rs770564150
|
|
|
NM_017999.5(RNF31):c.2899+6T>A
|
|
|
|
NM_018006.5(TRMU):c.102G>A (p.Val34=)
|
rs1426898716
|
|
|
NM_018006.5(TRMU):c.248+9_248+18del
|
rs763718617
|
|
|
NM_018006.5(TRMU):c.660C>T (p.Gly220=)
|
|
|
|
NM_018006.5(TRMU):c.773-12_773-9del
|
rs863224241
|
|
|
NM_018006.5(TRMU):c.99G>A (p.Gly33=)
|
rs1569060096
|
|
|
NM_018026.4(PACS1):c.1375-4G>A
|
rs766187894
|
|
|
NM_018026.4(PACS1):c.2305G>A (p.Asp769Asn)
|
rs751638632
|
|
|
NM_018026.4(PACS1):c.444+9G>A
|
|
|
|
NM_018026.4(PACS1):c.460C>A (p.Leu154Ile)
|
rs2134698831
|
|
|
NM_018026.4(PACS1):c.661-15T>A
|
rs1565150720
|
|
|
NM_018026.4(PACS1):c.95CGC[4] (p.Pro34dup)
|
rs1176211628
|
|
|
NM_018052.5(VAC14):c.1320G>T (p.Thr440=)
|
|
|
|
NM_018055.5(NODAL):c.819C>G (p.Ala273=)
|
rs749265748
|
|
|
NM_018075.5(ANO10):c.1137T>C (p.Tyr379=)
|
|
|
|
NM_018075.5(ANO10):c.1798-12_1798-9del
|
rs545954936
|
|
|
NM_018075.5(ANO10):c.45C>T (p.Phe15=)
|
|
|
|
NM_018075.5(ANO10):c.488C>T (p.Thr163Met)
|
|
|
|
NM_018075.5(ANO10):c.946C>T (p.Leu316=)
|
|
|
|
NM_018100.4(EFHC1):c.*1025AT[12]
|
rs59794069
|
|
|
NM_018100.4(EFHC1):c.*140C>T
|
rs78906153
|
|
|
NM_018117.12(WDR11):c.1138G>A (p.Val380Ile)
|
|
|
|
NM_018122.5(DARS2):c.228-10C>G
|
rs201817953
|
|
|
NM_018124.4(RFWD3):c.2018G>A (p.Arg673Gln)
|
|
|
|
NM_018124.4(RFWD3):c.2266C>T (p.Arg756Cys)
|
|
|
|
NM_018127.7(ELAC2):c.155C>G (p.Ser52Cys)
|
rs9895963
|
|
|
NM_018127.7(ELAC2):c.155C>T (p.Ser52Phe)
|
rs9895963
|
|
|
NM_018129.4(PNPO):c.549T>C (p.Tyr183=)
|
rs2036008214
|
|
|
NM_018136.5(ASPM):c.2936+11_2936+14del
|
rs745619939
|
|
|
NM_018136.5(ASPM):c.3566C>T (p.Ser1189Phe)
|
rs143805893
|
|
|
NM_018136.5(ASPM):c.4115ATT[1] (p.Tyr1373del)
|
rs587783241
|
|
|
NM_018136.5(ASPM):c.5138G>A (p.Arg1713His)
|
rs141297873
|
|
|
NM_018136.5(ASPM):c.8309T>G (p.Val2770Gly)
|
rs886043529
|
|
|
NM_018136.5(ASPM):c.8987+39TG[2]
|
rs200804798
|
|
|
NM_018136.5(ASPM):c.9539_9540delinsCA (p.Gln3180Pro)
|
rs2125088445
|
|
|
NM_018206.6(VPS35):c.1035G>A (p.Glu345=)
|
rs563975281
|
|
|
NM_018238.4(AGK):c.971C>T (p.Pro324Leu)
|
|
|
|
NM_018249.6(CDK5RAP2):c.1808A>T (p.Asn603Ile)
|
|
|
|
NM_018249.6(CDK5RAP2):c.1852C>T (p.Arg618Trp)
|
|
|
|
NM_018249.6(CDK5RAP2):c.5452-8C>T
|
|
|
|
NM_018263.6(ASXL2):c.2190A>C (p.Glu730Asp)
|
rs1287433846
|
|
|
NM_018263.6(ASXL2):c.3053A>G (p.Gln1018Arg)
|
|
|
|
NM_018263.6(ASXL2):c.3830T>C (p.Val1277Ala)
|
|
|
|
NM_018263.6(ASXL2):c.3995A>G (p.Asn1332Ser)
|
|
|
|
NM_018341.3(ERMARD):c.1369G>A (p.Glu457Lys)
|
|
|
|
NM_018341.3(ERMARD):c.1369_1373dup (p.Leu459fs)
|
|
|
|
NM_018341.3(ERMARD):c.1694C>T (p.Thr565Met)
|
|
|
|
NM_018341.3(ERMARD):c.1901C>T (p.Thr634Ile)
|
rs552023965
|
|
|
NM_018341.3(ERMARD):c.33_34del (p.Cys12fs)
|
|
|
|
NM_018368.4(LMBRD1):c.1611C>G (p.Val537=)
|
rs534280770
|
|
|
NM_018368.4(LMBRD1):c.582A>G (p.Ser194=)
|
rs1387756161
|
|
|
NM_018389.5(SLC35C1):c.402C>T (p.Cys134=)
|
rs955606062
|
|
|
NM_018417.6(ADCY10):c.2251G>A (p.Val751Ile)
|
|
|
|
NM_018418.5(SPATA7):c.57G>A (p.Pro19=)
|
rs367830780
|
|
|
NM_018418.5(SPATA7):c.57G>T (p.Pro19=)
|
rs367830780
|
|
|
NM_018451.5(CENPJ):c.2992-17dup
|
rs35599563
|
|
|
NM_018451.5(CENPJ):c.2992-18_2992-17del
|
rs151246139
|
|
|
NM_018451.5(CENPJ):c.568+7T>G
|
|
|
|
NM_018489.3(ASH1L):c.4279A>G (p.Met1427Val)
|
|
|
|
NM_018648.4(NOP10):c.*41dup
|
rs528879821
|
|
|
NM_018669.6(WDR4):c.188C>T (p.Ala63Val)
|
|
|
|
NM_018669.6(WDR4):c.586G>A (p.Val196Met)
|
|
|
|
NM_018671.5(UNC45A):c.719G>A (p.Arg240Gln)
|
rs145502142
|
|
|
NM_018685.5(ANLN):c.1632T>C (p.Ile544=)
|
|
|
|
NM_018714.3(COG1):c.903G>C (p.Gln301His)
|
rs117208167
|
|
|
NM_018718.3(CEP41):c.278-15A>C
|
rs142452124
|
|
|
NM_018834.6(MATR3):c.1734+11T>G
|
rs886059990
|
|
|
NM_018834.6(MATR3):c.2031C>T (p.Asp677=)
|
rs557085910
|
|
|
NM_018834.6(MATR3):c.2318A>C (p.Tyr773Ser)
|
rs368217486
|
|
|
NM_018834.6(MATR3):c.2318A>G (p.Tyr773Cys)
|
rs368217486
|
|
|
NM_018834.6(MATR3):c.675A>G (p.Arg225=)
|
rs199711502
|
|
|
NM_018896.5(CACNA1G):c.2014C>T (p.Arg672Trp)
|
|
|
|
NM_018896.5(CACNA1G):c.2048G>A (p.Arg683His)
|
|
|
|
NM_018896.5(CACNA1G):c.2454C>T (p.Ser818=)
|
|
|
|
NM_018896.5(CACNA1G):c.3065-8C>T
|
|
|
|
NM_018896.5(CACNA1G):c.3265G>A (p.Ala1089Thr)
|
|
|
|
NM_018896.5(CACNA1G):c.3449G>A (p.Arg1150Gln)
|
|
|
|
NM_018896.5(CACNA1G):c.4682G>A (p.Arg1561Gln)
|
|
|
|
NM_018941.4(CLN8):c.234A>G (p.Thr78=)
|
rs1450867136
|
|
|
NM_018941.4(CLN8):c.648C>T (p.Phe216=)
|
rs564074916
|
|
|
NM_018979.4(WNK1):c.1269G>A (p.Ser423=)
|
rs955095527
|
|
|
NM_018993.4(RIN2):c.2260G>A (p.Glu754Lys)
|
rs375974979
|
|
|
NM_018993.4(RIN2):c.77C>T (p.Ser26Leu)
|
rs577973228
|
|
|
NM_019023.5(PRMT7):c.1951TTC[1] (p.Phe652del)
|
rs562766169
|
|
|
NM_019032.6(ADAMTSL4):c.1283G>A (p.Arg428His)
|
rs201877614
|
|
|
NM_019032.6(ADAMTSL4):c.1750-10_1750-6del
|
rs886045267
|
|
|
NM_019032.6(ADAMTSL4):c.426G>A (p.Ala142=)
|
|
|
|
NM_019066.5(MAGEL2):c.1344ACCCGTGATCCGCCAGGCCCC[1] (p.442PVIRQAP[2])
|
rs794726941
|
|
|
NM_019066.5(MAGEL2):c.1344_1385del (p.442PVIRQAP[1])
|
|
|
|
NM_019066.5(MAGEL2):c.1404CCCACCTGTGATCCGCCAGGC[1] (p.464VIRQAPP[3])
|
rs1386125417
|
|
|
NM_019066.5(MAGEL2):c.1922C>G (p.Pro641Arg)
|
rs556296973
|
|
|
NM_019066.5(MAGEL2):c.1991C>T (p.Pro664Leu)
|
rs201935129
|
|
|
NM_019066.5(MAGEL2):c.2408C>A (p.Ala803Asp)
|
rs371119917
|
|
|
NM_019066.5(MAGEL2):c.2641C>T (p.Arg881Cys)
|
|
|
|
NM_019066.5(MAGEL2):c.2919G>A (p.Pro973=)
|
rs544938560
|
|
|
NM_019066.5(MAGEL2):c.3257C>A (p.Ala1086Asp)
|
|
|
|
NM_019066.5(MAGEL2):c.3406C>A (p.Leu1136Met)
|
|
|
|
NM_019066.5(MAGEL2):c.579CCCTCCGGGGACACCGATGGCTCATCCTCC[1] (p.181HPPPPGTPMA[4])
|
|
|
|
NM_019066.5(MAGEL2):c.939CCCACCTGCACAGCCGATGGC[1] (p.314PPAQPMA[1])
|
rs528108868
|
|
|
NM_019066.5(MAGEL2):c.979G>A (p.Ala327Thr)
|
|
|
|
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1])
|
rs746549330
|
|
|
NM_019098.5(CNGB3):c.2313_2315del (p.Arg772del)
|
rs758914061
|
|
|
NM_019098.5(CNGB3):c.339-10dup
|
rs200792506
|
|
|
NM_019098.5(CNGB3):c.843A>G (p.Gly281=)
|
rs1200686449
|
|
|
NM_019109.5(ALG1):c.1292C>A (p.Ala431Glu)
|
rs370439294
|
|
|
NM_019109.5(ALG1):c.946G>A (p.Val316Ile)
|
rs150272167
|
|
|
NM_019112.3(ABCA7):c.2126_2132del (p.Glu709fs)
|
rs547447016
|
|
|
NM_019594.4(LRRC8A):c.2317C>A (p.Leu773Met)
|
rs531989271
|
|
|
NM_019842.4(KCNQ5):c.703C>T (p.Arg235Cys)
|
rs2150391522
|
|
|
NM_019842.4(KCNQ5):c.7C>A (p.Arg3Ser)
|
rs549110435
|
|
|
NM_019844.4(SLCO1B3):c.728-4C>G
|
rs759435706
|
|
|
NM_019885.4(CYP26B1):c.1417C>A (p.Arg473Ser)
|
rs61751056
|
|
|
NM_019888.3(MC3R):c.429C>G (p.Tyr143Ter)
|
rs148382606
|
|
|
NM_019892.6(INPP5E):c.1074G>A (p.Pro358=)
|
rs746782404
|
|
|
NM_019892.6(INPP5E):c.1279+14T>C
|
rs886063711
|
|
|
NM_019892.6(INPP5E):c.1897C>G (p.Gln633Glu)
|
|
|
|
NM_020066.5(FMN2):c.4065+7A>G
|
rs749567608
|
|
|
NM_020166.5(MCCC1):c.1554G>A (p.Lys518=)
|
rs563586657
|
|
|
NM_020166.5(MCCC1):c.156C>A (p.Val52=)
|
rs398124353
|
|
|
NM_020166.5(MCCC1):c.1570G>A (p.Asp524Asn)
|
rs200031275
|
|
|
NM_020166.5(MCCC1):c.231G>A (p.Ala77=)
|
rs144230304
|
|
|
NM_020166.5(MCCC1):c.300C>G (p.Pro100=)
|
rs747409426
|
|
|
NM_020166.5(MCCC1):c.768A>G (p.Val256=)
|
rs567236851
|
|
|
NM_020184.4(CNNM4):c.627G>A (p.Leu209=)
|
rs1553474576
|
|
|
NM_020198.3(CCDC47):c.118G>A (p.Ala40Thr)
|
|
|
|
NM_020207.7(ERCC6L2):c.2100+13_2100+15del
|
|
|
|
NM_020247.5(COQ8A):c.*761G>A
|
rs145779574
|
|
|
NM_020247.5(COQ8A):c.1256+11C>G
|
rs564593360
|
|
|
NM_020247.5(COQ8A):c.1398+12C>A
|
rs774158999
|
|
|
NM_020247.5(COQ8A):c.1713C>A (p.Ala571=)
|
rs886046069
|
|
|
NM_020247.5(COQ8A):c.1830C>T (p.His610=)
|
|
|
|
NM_020247.5(COQ8A):c.1936C>A (p.Gln646Lys)
|
rs555171534
|
|
|
NM_020247.5(COQ8A):c.521C>A (p.Thr174Lys)
|
rs181579601
|
|
|
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr)
|
rs376462712
|
|
|
NM_020297.4(ABCC9):c.1165-6dup
|
rs35857705
|
|
|
NM_020297.4(ABCC9):c.1165-7_1165-6del
|
rs35857705
|
|
|
NM_020297.4(ABCC9):c.133T>C (p.Leu45=)
|
rs1555125400
|
|
|
NM_020297.4(ABCC9):c.1992C>T (p.Pro664=)
|
rs780071007
|
|
|
NM_020297.4(ABCC9):c.2470C>A (p.Arg824=)
|
rs779866340
|
|
|
NM_020297.4(ABCC9):c.2644-11G>C
|
rs61926078
|
|
|
NM_020297.4(ABCC9):c.3669+4C>T
|
rs189565793
|
|
|
NM_020297.4(ABCC9):c.366T>C (p.Tyr122=)
|
rs886049174
|
|
|
NM_020297.4(ABCC9):c.639G>A (p.Val213=)
|
rs1213285317
|
|
|
NM_020297.4(ABCC9):c.6C>T (p.Ser2=)
|
rs765382139
|
|
|
NM_020312.4(COQ9):c.184C>T (p.His62Tyr)
|
rs757251412
|
|
|
NM_020320.5(RARS2):c.213+4C>T
|
|
|
|
NM_020320.5(RARS2):c.641C>T (p.Ala214Val)
|
rs863224178
|
|
|
NM_020320.5(RARS2):c.772-3del
|
rs368859792
|
|
|
NM_020320.5(RARS2):c.772-4_772-3del
|
rs368859792
|
|
|
NM_020320.5(RARS2):c.818G>T (p.Arg273Leu)
|
rs139721632
|
|
|
NM_020320.5(RARS2):c.888G>A (p.Thr296=)
|
rs145189950
|
|
|
NM_020320.5(RARS2):c.888G>C (p.Thr296=)
|
rs145189950
|
|
|
NM_020338.4(ZMIZ1):c.1462A>G (p.Ser488Gly)
|
|
|
|
NM_020338.4(ZMIZ1):c.2978C>T (p.Pro993Leu)
|
|
|
|
NM_020338.4(ZMIZ1):c.700A>C (p.Ile234Leu)
|
|
|
|
NM_020365.5(EIF2B3):c.148+3G>A
|
|
|
|
NM_020366.4(RPGRIP1):c.3571C>T (p.Arg1191Trp)
|
rs188660364
|
|
|
NM_020376.4(PNPLA2):c.1430C>T (p.Pro477Leu)
|
rs142588621
|
|
|
NM_020376.4(PNPLA2):c.165G>T (p.Ala55=)
|
rs761885395
|
|
|
NM_020376.4(PNPLA2):c.487-15T>G
|
rs749452055
|
|
|
NM_020376.4(PNPLA2):c.487-7G>A
|
rs372342635
|
|
|
NM_020401.4(NUP107):c.424C>T (p.Arg142Cys)
|
|
|
|
NM_020433.5(JPH2):c.1375G>A (p.Ala459Thr)
|
|
|
|
NM_020433.5(JPH2):c.1674G>A (p.Pro558=)
|
|
|
|
NM_020433.5(JPH2):c.624C>G (p.Ala208=)
|
rs398124358
|
|
|
NM_020435.4(GJC2):c.1084G>A (p.Ala362Thr)
|
rs565574386
|
|
|
NM_020435.4(GJC2):c.454GAG[6] (p.Glu158del)
|
rs746050475
|
|
|
NM_020451.3(SELENON):c.*267C>G
|
rs184807941
|
|
|
NM_020451.3(SELENON):c.1148GCA[1] (p.Ser384del)
|
rs770747626
|
|
|
NM_020451.3(SELENON):c.1710G>A (p.Thr570=)
|
rs371398538
|
|
|
NM_020461.4(TUBGCP6):c.4322C>T (p.Pro1441Leu)
|
rs201730639
|
|
|
NM_020461.4(TUBGCP6):c.5327C>G (p.Ser1776Cys)
|
rs374204240
|
|
|
NM_020461.4(TUBGCP6):c.610G>C (p.Asp204His)
|
|
|
|
NM_020533.3(MCOLN1):c.1032G>A (p.Leu344=)
|
rs371345093
|
|
|
NM_020533.3(MCOLN1):c.1077C>T (p.Val359=)
|
rs200417975
|
|
|
NM_020533.3(MCOLN1):c.1135-14G>A
|
rs2022615978
|
|
|
NM_020533.3(MCOLN1):c.1590A>C (p.Ala530=)
|
rs2022699936
|
|
|
NM_020533.3(MCOLN1):c.1707-14C>T
|
rs541186661
|
|
|
NM_020533.3(MCOLN1):c.204G>A (p.Leu68=)
|
rs1481445686
|
|
|
NM_020533.3(MCOLN1):c.985-15G>C
|
rs199860642
|
|
|
NM_020549.5(CHAT):c.275C>G (p.Pro92Arg)
|
rs372298555
|
|
|
NM_020549.5(CHAT):c.59_60del (p.Glu20fs)
|
rs531450737
|
|
|
NM_020631.6(PLEKHG5):c.2145GGA[9] (p.Glu723_Gly724insGlu)
|
rs113541584
|
|
|
NM_020631.6(PLEKHG5):c.2160G>A (p.Glu720=)
|
rs867638588
|
|
|
NM_020631.6(PLEKHG5):c.997C>A (p.Arg333=)
|
rs148232621
|
|
|
NM_020686.6(ABAT):c.1123-14G>A
|
rs758870080
|
|
|
NM_020686.6(ABAT):c.1140C>T (p.Asn380=)
|
rs770156912
|
|
|
NM_020686.6(ABAT):c.1389G>A (p.Val463=)
|
rs2060432508
|
|
|
NM_020686.6(ABAT):c.317-5C>G
|
rs781499078
|
|
|
NM_020686.6(ABAT):c.540+14CA[14]
|
rs35745596
|
|
|
NM_020686.6(ABAT):c.645C>A (p.Gly215=)
|
rs1139522
|
|
|
NM_020686.6(ABAT):c.667+7_667+8dup
|
rs748783252
|
|
|
NM_020699.4(GATAD2B):c.983C>T (p.Thr328Met)
|
rs1261538447
|
|
|
NM_020708.5(SLC12A5):c.1689-7G>A
|
rs2084595386
|
|
|
NM_020708.5(SLC12A5):c.2452C>G (p.Pro818Ala)
|
rs201268862
|
|
|
NM_020738.4(KIDINS220):c.1557G>A (p.Thr519=)
|
|
|
|
NM_020738.4(KIDINS220):c.346C>T (p.Arg116Cys)
|
|
|
|
NM_020738.4(KIDINS220):c.358G>A (p.Val120Ile)
|
|
|
|
NM_020738.4(KIDINS220):c.5106G>A (p.Met1702Ile)
|
|
|
|
NM_020738.4(KIDINS220):c.517C>T (p.Pro173Ser)
|
|
|
|
NM_020738.4(KIDINS220):c.999+6A>G
|
|
|
|
NM_020745.4(AARS2):c.2701C>T (p.Arg901Trp)
|
rs145086947
|
|
|
NM_020745.4(AARS2):c.31_39del (p.Leu12_Arg14del)
|
rs562829310
|
|
|
NM_020750.3(XPO5):c.912G>A (p.Gln304=)
|
|
|
|
NM_020754.4(ARHGAP31):c.1283C>G (p.Pro428Arg)
|
|
|
|
NM_020771.4(HACE1):c.-25_-5dup
|
rs1231557307
|
|
|
NM_020778.4(ALPK3):c.431_435CCAGG[3] (p.Glu148Glnfs)
|
rs527847958
|
|
|
NM_020778.5(ALPK3):c.1600G>A (p.Gly534Ser)
|
|
|
|
NM_020778.5(ALPK3):c.1663T>A (p.Cys555Ser)
|
|
|
|
NM_020778.5(ALPK3):c.1688T>C (p.Met563Thr)
|
rs150028343
|
|
|
NM_020778.5(ALPK3):c.168C>T (p.His56=)
|
|
|
|
NM_020778.5(ALPK3):c.1750A>G (p.Ile584Val)
|
|
|
|
NM_020778.5(ALPK3):c.2702A>G (p.Glu901Gly)
|
|
|
|
NM_020778.5(ALPK3):c.2716A>T (p.Met906Leu)
|
rs1249860975
|
|
|
NM_020778.5(ALPK3):c.3682C>T (p.Arg1228Trp)
|
rs537104966
|
|
|
NM_020778.5(ALPK3):c.423-19del
|
rs537375112
|
|
|
NM_020778.5(ALPK3):c.4723+4C>T
|
rs560395563
|
|
|
NM_020778.5(ALPK3):c.4948T>C (p.Ser1650Pro)
|
|
|
|
NM_020778.5(ALPK3):c.669A>T (p.Arg223=)
|
|
|
|
NM_020778.5(ALPK3):c.744G>A (p.Ala248=)
|
rs1963641415
|
|
|
NM_020812.4(DOCK6):c.172G>T (p.Asp58Tyr)
|
|
|
|
NM_020812.4(DOCK6):c.3163G>A (p.Val1055Met)
|
rs202209921
|
|
|
NM_020812.4(DOCK6):c.4204-3C>T
|
|
|
|
NM_020821.3(VPS13C):c.1798A>G (p.Ile600Val)
|
|
|
|
NM_020822.3(KCNT1):c.136C>T (p.Leu46Phe)
|
rs869312682
|
|
|
NM_020822.3(KCNT1):c.1620-15_1620-5dup
|
rs761464076
|
|
|
NM_020822.3(KCNT1):c.2030A>G (p.Gln677Arg)
|
rs1060505000
|
|
|
NM_020822.3(KCNT1):c.2061_2066del (p.Gly691_Gly692del)
|
rs754629346
|
|
|
NM_020822.3(KCNT1):c.3174C>T (p.Ala1058=)
|
rs2131577612
|
|
|
NM_020822.3(KCNT1):c.3217C>T (p.Arg1073Trp)
|
rs768536067
|
|
|
NM_020832.3(ZNF687):c.2964+3G>A
|
|
|
|
NM_020884.7(MYH7B):c.1146G>A (p.Glu382=)
|
|
|
|
NM_020919.4(ALS2):c.2491_2499del (p.Glu831_Leu833del)
|
rs773628251
|
|
|
NM_020921.4(NIN):c.3080CTC[1] (p.Pro1028del)
|
rs369382014
|
|
|
NM_020921.4(NIN):c.5323G>A (p.Val1775Met)
|
rs375323558
|
|
|
NM_020921.4(NIN):c.5877+3A>G
|
|
|
|
NM_020921.4(NIN):c.673G>A (p.Glu225Lys)
|
|
|
|
NM_020928.2(ZSWIM6):c.151GCG[7] (p.Ala56dup)
|
rs779283808
|
|
|
NM_020928.2(ZSWIM6):c.151GCG[8] (p.Ala55_Ala56dup)
|
rs779283808
|
|
|
NM_020928.2(ZSWIM6):c.29C>A (p.Pro10His)
|
rs943024318
|
|
|
NM_020928.2(ZSWIM6):c.442GGC[4] (p.Gly152_Gly154del)
|
|
|
|
NM_020928.2(ZSWIM6):c.442GGC[5] (p.Gly153_Gly154del)
|
rs864309616
|
|
|
NM_020928.2(ZSWIM6):c.83GCG[8] (p.Gly32_Gly33dup)
|
rs528020839
|
|
|
NM_020937.4(FANCM):c.3663T>C (p.Phe1221=)
|
rs772996800
|
|
|
NM_020937.4(FANCM):c.4005A>G (p.Lys1335=)
|
rs1888735204
|
|
|
NM_020937.4(FANCM):c.4859AAG[2] (p.Glu1622del)
|
rs765421461
|
|
|
NM_020937.4(FANCM):c.6010T>A (p.Ser2004Thr)
|
rs760258217
|
|
|
NM_020944.3(GBA2):c.1196G>C (p.Arg399Pro)
|
rs142607078
|
|
|
NM_020964.3(EPG5):c.6166C>T (p.Arg2056Trp)
|
rs116076204
|
|
|
NM_020975.6(RET):c.*6C>G
|
|
|
|
NM_020975.6(RET):c.1146G>A (p.Gln382=)
|
rs770637118
|
|
|
NM_020975.6(RET):c.1573C>A (p.Arg525=)
|
rs545625150
|
|
|
NM_020975.6(RET):c.2284+54C>A
|
rs566375223
|
|
|
NM_020975.6(RET):c.2342A>G (p.Gln781Arg)
|
rs377767416
|
|
|
NM_020975.6(RET):c.2348A>C (p.Asn783Thr)
|
rs587778656
|
|
|
NM_020975.6(RET):c.2523G>T (p.Pro841=)
|
rs56195026
|
|
|
NM_020975.6(RET):c.44TGC[8] (p.Leu19_Pro20insLeuLeuLeu)
|
rs768132465
|
|
|
NM_020975.6(RET):c.960C>A (p.Pro320=)
|
rs756761746
|
|
|
NM_020987.5(ANK3):c.11007C>A (p.Thr3669=)
|
rs2131966858
|
|
|
NM_020987.5(ANK3):c.12672T>A (p.Asp4224Glu)
|
|
|
|
NM_020987.5(ANK3):c.2502G>A (p.Met834Ile)
|
rs2132296500
|
|
|
NM_020988.3(GNAO1):c.904G>A (p.Ala302Thr)
|
rs2143704776
|
|
|
NM_021008.4(DEAF1):c.294G>A (p.Val98=)
|
rs1038817783
|
|
|
NM_021008.4(DEAF1):c.51_92del (p.Val19_Ala32del)
|
rs758496577
|
|
|
NM_021008.4(DEAF1):c.56_82del (p.Val19_Ala27del)
|
rs768085739
|
|
|
NM_021008.4(DEAF1):c.60_86del (p.Val25_Ala33del)
|
rs769664625
|
|
|
NM_021008.4(DEAF1):c.72_95del (p.Val25_Ala32del)
|
rs752994574
|
|
|
NM_021072.4(HCN1):c.203GCG[8] (p.Gly74dup)
|
rs747975797
|
|
|
NM_021072.4(HCN1):c.336C>A (p.Arg112=)
|
rs794726951
|
|
|
NM_021074.5(NDUFV2):c.17C>G (p.Ala6Gly)
|
rs559485096
|
|
|
NM_021074.5(NDUFV2):c.183+4T>C
|
|
|
|
NM_021075.4(NDUFV3):c.11C>G (p.Pro4Arg)
|
rs77606940
|
|
|
NM_021076.4(NEFH):c.1054C>T (p.Arg352Cys)
|
rs149955255
|
|
|
NM_021076.4(NEFH):c.1973_1978del (p.Glu658_Glu659del)
|
rs149571560
|
|
|
NM_021076.4(NEFH):c.727G>A (p.Gly243Ser)
|
rs548521745
|
|
|
NM_021098.3(CACNA1H):c.13G>A (p.Ala5Thr)
|
rs948561024
|
|
|
NM_021098.3(CACNA1H):c.2342C>A (p.Thr781Asn)
|
rs200687647
|
|
|
NM_021098.3(CACNA1H):c.3091G>A (p.Glu1031Lys)
|
rs548097951
|
|
|
NM_021098.3(CACNA1H):c.4135A>G (p.Ile1379Val)
|
|
|
|
NM_021098.3(CACNA1H):c.5217G>A (p.Leu1739=)
|
rs370996432
|
|
|
NM_021098.3(CACNA1H):c.5723C>T (p.Ala1908Val)
|
|
|
|
NM_021098.3(CACNA1H):c.6002G>A (p.Arg2001Gln)
|
rs200399120
|
|
|
NM_021098.3(CACNA1H):c.6643A>G (p.Thr2215Ala)
|
|
|
|
NM_021098.3(CACNA1H):c.6692C>T (p.Ser2231Phe)
|
rs746267333
|
|
|
NM_021120.4(DLG3):c.1405+5_1405+7del
|
rs797045525
|
|
|
NM_021167.5(GATAD1):c.166GGC[5] (p.Gly59dup)
|
rs876657812
|
|
|
NM_021615.5(CHST6):c.573C>G (p.Pro191=)
|
rs1044185449
|
|
|
NM_021625.5(TRPV4):c.1825-15C>G
|
rs200602134
|
|
|
NM_021625.5(TRPV4):c.195A>G (p.Pro65=)
|
rs1891742510
|
|
|
NM_021625.5(TRPV4):c.2433G>A (p.Ser811=)
|
rs34071623
|
|
|
NM_021728.4(OTX2):c.444G>C (p.Pro148=)
|
rs147896150
|
|
|
NM_021729.6(VPS11):c.336+8C>T
|
rs1555201791
|
|
|
NM_021813.4(BACH2):c.469G>A (p.Glu157Lys)
|
|
|
|
NM_021813.4(BACH2):c.979G>A (p.Ala327Thr)
|
|
|
|
NM_021830.5(TWNK):c.1074C>A (p.Thr358=)
|
|
|
|
NM_021830.5(TWNK):c.1734A>G (p.Lys578=)
|
|
|
|
NM_021830.5(TWNK):c.562G>A (p.Asp188Asn)
|
|
|
|
NM_021913.5(AXL):c.845C>T (p.Pro282Leu)
|
|
|
|
NM_021922.3(FANCE):c.1263T>C (p.Cys421=)
|
rs747692546
|
|
|
NM_021922.3(FANCE):c.1593G>A (p.Leu531=)
|
rs886061332
|
|
|
NM_021922.3(FANCE):c.937C>T (p.Leu313=)
|
rs557021652
|
|
|
NM_021927.3(GUF1):c.1250T>A (p.Leu417Gln)
|
|
|
|
NM_021939.4(FKBP10):c.1029C>T (p.Ile343=)
|
rs782632205
|
|
|
NM_021939.4(FKBP10):c.21C>T (p.Pro7=)
|
rs781985978
|
|
|
NM_021939.4(FKBP10):c.246-5C>G
|
rs140027863
|
|
|
NM_021942.6(TRAPPC11):c.2628+10del
|
rs150593522
|
|
|
NM_021942.6(TRAPPC11):c.944A>G (p.His315Arg)
|
rs533000838
|
|
|
NM_021969.3(NR0B2):c.134G>A (p.Arg45Gln)
|
|
|
|
NM_021969.3(NR0B2):c.343C>T (p.Pro115Ser)
|
|
|
|
NM_021973.3(HAND2):c.70_96del (p.Ala24_Ala32del)
|
rs753612276
|
|
|
NM_022039.4(FBXW4):c.485AGG[8] (p.Glu168dup)
|
rs560966094
|
|
|
NM_022042.4(SLC26A1):c.213C>A (p.Gly71=)
|
|
|
|
NM_022051.3(EGLN1):c.432C>T (p.Pro144=)
|
rs886046110
|
|
|
NM_022051.3(EGLN1):c.597G>C (p.Val199=)
|
rs563998083
|
|
|
NM_022081.6(HPS4):c.860G>C (p.Gly287Ala)
|
rs571151621
|
|
|
NM_022089.4(ATP13A2):c.1195+5G>A
|
|
|
|
NM_022089.4(ATP13A2):c.2326G>A (p.Val776Ile)
|
rs56170027
|
|
|
NM_022089.4(ATP13A2):c.3271G>A (p.Val1091Ile)
|
|
|
|
NM_022089.4(ATP13A2):c.498C>T (p.Tyr166=)
|
|
|
|
NM_022089.4(ATP13A2):c.589G>A (p.Val197Ile)
|
|
|
|
NM_022095.4(ZNF335):c.131C>G (p.Ala44Gly)
|
|
|
|
NM_022095.4(ZNF335):c.2564C>T (p.Ala855Val)
|
rs564168844
|
|
|
NM_022095.4(ZNF335):c.825C>T (p.Ala275=)
|
rs797046125
|
|
|
NM_022114.4(PRDM16):c.2809C>G (p.Pro937Ala)
|
rs374972823
|
|
|
NM_022114.4(PRDM16):c.2815C>G (p.Leu939Val)
|
rs150022595
|
|
|
NM_022124.6(CDH23):c.*588del
|
rs148667421
|
|
|
NM_022124.6(CDH23):c.10036G>C (p.Glu3346Gln)
|
rs562525508
|
|
|
NM_022124.6(CDH23):c.240G>A (p.Val80=)
|
|
|
|
NM_022124.6(CDH23):c.2532C>T (p.Asn844=)
|
rs756454038
|
|
|
NM_022124.6(CDH23):c.3133G>T (p.Val1045Leu)
|
rs377100683
|
|
|
NM_022124.6(CDH23):c.3477G>C (p.Leu1159=)
|
rs1564759522
|
|
|
NM_022124.6(CDH23):c.4005C>G (p.Val1335=)
|
rs886047136
|
|
|
NM_022124.6(CDH23):c.4390G>T (p.Ala1464Ser)
|
rs756674688
|
|
|
NM_022124.6(CDH23):c.4984C>T (p.Leu1662=)
|
rs886047139
|
|
|
NM_022124.6(CDH23):c.5130C>A (p.Ile1710=)
|
rs111033487
|
|
|
NM_022124.6(CDH23):c.5727T>C (p.Thr1909=)
|
rs756919394
|
|
|
NM_022124.6(CDH23):c.572G>A (p.Arg191Gln)
|
rs372588663
|
|
|
NM_022124.6(CDH23):c.588G>A (p.Glu196=)
|
rs886047129
|
|
|
NM_022124.6(CDH23):c.6108C>T (p.Ile2036=)
|
rs749235545
|
|
|
NM_022124.6(CDH23):c.6433G>A (p.Val2145Met)
|
rs780523589
|
|
|
NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu)
|
rs537236734
|
|
|
NM_022124.6(CDH23):c.7482+12C>A
|
rs370000472
|
|
|
NM_022124.6(CDH23):c.7551C>T (p.Ser2517=)
|
rs886047140
|
|
|
NM_022124.6(CDH23):c.7873-8C>G
|
rs376526400
|
|
|
NM_022124.6(CDH23):c.8308+4G>C
|
rs751021859
|
|
|
NM_022124.6(CDH23):c.9199-4G>A
|
rs369900526
|
|
|
NM_022124.6(CDH23):c.9739-12G>A
|
rs200638595
|
|
|
NM_022132.5(MCCC2):c.1572A>T (p.Ala524=)
|
rs886060738
|
|
|
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs)
|
rs2066847
|
|
|
NM_022168.4(IFIH1):c.1764dup (p.Ala589fs)
|
rs553669430
|
|
|
NM_022168.4(IFIH1):c.229C>T (p.Arg77Trp)
|
rs147278787
|
|
|
NM_022367.4(SEMA4A):c.810+7G>A
|
rs568949451
|
|
|
NM_022436.3(ABCG5):c.1311C>T (p.Asn437=)
|
rs575266356
|
|
|
NM_022436.3(ABCG5):c.139G>T (p.Val47Phe)
|
rs72542426
|
|
|
NM_022436.3(ABCG5):c.550C>T (p.Leu184=)
|
rs762951266
|
|
|
NM_022436.3(ABCG5):c.803T>A (p.Phe268Tyr)
|
rs770103215
|
|
|
NM_022436.3(ABCG5):c.905-3dup
|
rs142037828
|
|
|
NM_022437.3(ABCG8):c.1024G>T (p.Ala342Ser)
|
rs145373839
|
|
|
NM_022437.3(ABCG8):c.1128-4C>T
|
|
|
|
NM_022437.3(ABCG8):c.1285A>G (p.Met429Val)
|
rs147194762
|
|
|
NM_022437.3(ABCG8):c.1293C>A (p.Ile431=)
|
rs202176869
|
|
|
NM_022437.3(ABCG8):c.1568C>T (p.Pro523Leu)
|
rs558635043
|
|
|
NM_022437.3(ABCG8):c.1756+6G>A
|
rs375563605
|
|
|
NM_022437.3(ABCG8):c.1756+6G>T
|
rs375563605
|
|
|
NM_022437.3(ABCG8):c.1757-15G>A
|
|
|
|
NM_022437.3(ABCG8):c.1757-4C>G
|
rs765522418
|
|
|
NM_022437.3(ABCG8):c.1884+9G>A
|
rs759152941
|
|
|
NM_022437.3(ABCG8):c.1885-7T>C
|
rs1485558944
|
|
|
NM_022437.3(ABCG8):c.576C>A (p.Ile192=)
|
rs148058949
|
|
|
NM_022437.3(ABCG8):c.642G>A (p.Ser214=)
|
rs202198142
|
|
|
NM_022437.3(ABCG8):c.768C>T (p.Ser256=)
|
rs1558811634
|
|
|
NM_022455.5(NSD1):c.1260A>G (p.Lys420=)
|
rs1397377820
|
|
|
NM_022455.5(NSD1):c.1814A>G (p.Glu605Gly)
|
|
|
|
NM_022455.5(NSD1):c.3965G>C (p.Arg1322Pro)
|
rs750684515
|
|
|
NM_022455.5(NSD1):c.4564G>T (p.Asp1522Tyr)
|
rs201483724
|
|
|
NM_022455.5(NSD1):c.5781C>G (p.Ala1927=)
|
rs61749654
|
|
|
NM_022455.5(NSD1):c.6200A>T (p.Lys2067Met)
|
rs1759549616
|
|
|
NM_022455.5(NSD1):c.622G>A (p.Gly208Arg)
|
rs1581091469
|
|
|
NM_022455.5(NSD1):c.6674C>A (p.Pro2225Gln)
|
rs755013078
|
|
|
NM_022455.5(NSD1):c.750AGC[1] (p.Ala252del)
|
rs398124385
|
|
|
NM_022455.5(NSD1):c.793A>G (p.Ile265Val)
|
rs771587260
|
|
|
NM_022464.5(SIL1):c.1017G>C (p.Leu339=)
|
rs769587333
|
|
|
NM_022464.5(SIL1):c.132G>A (p.Glu44=)
|
|
|
|
NM_022464.5(SIL1):c.196G>A (p.Val66Ile)
|
|
|
|
NM_022464.5(SIL1):c.430A>G (p.Met144Val)
|
|
|
|
NM_022464.5(SIL1):c.645+15C>T
|
|
|
|
NM_022482.5(GZF1):c.900_920del (p.Glu300_Glu306del)
|
rs547594353
|
|
|
NM_022489.4(INF2):c.1582C>G (p.Pro528Ala)
|
rs181694819
|
|
|
NM_022489.4(INF2):c.1865G>C (p.Arg622Pro)
|
|
|
|
NM_022489.4(INF2):c.2065C>T (p.Arg689Trp)
|
|
|
|
NM_022489.4(INF2):c.2087C>T (p.Ala696Val)
|
|
|
|
NM_022489.4(INF2):c.2419-5T>C
|
|
|
|
NM_022489.4(INF2):c.2764C>T (p.Arg922Cys)
|
|
|
|
NM_022489.4(INF2):c.2788C>G (p.Arg930Gly)
|
rs764687744
|
|
|
NM_022489.4(INF2):c.2846C>T (p.Ala949Val)
|
rs912951002
|
|
|
NM_022489.4(INF2):c.3519C>G (p.Asp1173Glu)
|
rs767075044
|
|
|
NM_022489.4(INF2):c.3519CGAGGA[1] (p.1171DE[2])
|
rs748373029
|
|
|
NM_022489.4(INF2):c.3598G>A (p.Asp1200Asn)
|
rs764338863
|
|
|
NM_022489.4(INF2):c.3673C>G (p.Arg1225Gly)
|
|
|
|
NM_022489.4(INF2):c.3674G>A (p.Arg1225His)
|
|
|
|
NM_022489.4(INF2):c.3740_3741del (p.Val1247fs)
|
rs753327806
|
|
|
NM_022489.4(INF2):c.466G>A (p.Glu156Lys)
|
|
|
|
NM_022489.4(INF2):c.685G>A (p.Val229Ile)
|
rs752058170
|
|
|
NM_022489.4(INF2):c.917G>A (p.Arg306His)
|
|
|
|
NM_022725.4(FANCF):c.412C>A (p.Arg138Ser)
|
rs565372884
|
|
|
NM_022765.4(MICAL1):c.1004G>A (p.Arg335Gln)
|
|
|
|
NM_022765.4(MICAL1):c.1063G>A (p.Ala355Thr)
|
|
|
|
NM_022772.4(EPS8L2):c.1413G>A (p.Pro471=)
|
rs369906914
|
|
|
NM_022772.4(EPS8L2):c.184A>T (p.Met62Leu)
|
rs780112279
|
|
|
NM_022773.4(LMF1):c.1036A>G (p.Met346Val)
|
rs201767825
|
|
|
NM_022773.4(LMF1):c.1061G>A (p.Arg354Gln)
|
|
|
|
NM_022773.4(LMF1):c.1184C>T (p.Thr395Ile)
|
|
|
|
NM_022773.4(LMF1):c.1620C>T (p.Ile540=)
|
|
|
|
NM_022773.4(LMF1):c.176C>T (p.Ala59Val)
|
|
|
|
NM_022786.3(ARV1):c.*4+1G>A
|
rs200114138
|
|
|
NM_022835.3(PLEKHG2):c.882+8del
|
rs571854709
|
|
|
NM_022895.3(C12orf43):c.*3091G>A
|
rs1877438684
|
|
|
NM_023067.4(FOXL2):c.672_674del (p.Ala234del)
|
rs779509486
|
|
|
NM_023110.3(FGFR1):c.381TGA[7] (p.Asp133dup)
|
rs138489552
|
|
|
NM_024009.3(GJB3):c.479G>A (p.Arg160His)
|
rs200055020
|
|
|
NM_024009.3(GJB3):c.652_663del (p.Leu218_Asp221del)
|
rs727503069
|
|
|
NM_024079.5(ALG8):c.369-6A>G
|
rs201483866
|
|
|
NM_024079.5(ALG8):c.441A>T (p.Val147=)
|
rs112109685
|
|
|
NM_024101.7(MLPH):c.1142AGG[2] (p.Glu383del)
|
rs528863829
|
|
|
NM_024101.7(MLPH):c.880+10del
|
rs758805619
|
|
|
NM_024101.7(MLPH):c.992G>A (p.Arg331Gln)
|
rs113169138
|
|
|
NM_024105.4(ALG12):c.1452C>T (p.Leu484=)
|
rs772352960
|
|
|
NM_024105.4(ALG12):c.470-12A>T
|
rs191669043
|
|
|
NM_024105.4(ALG12):c.48G>A (p.Leu16=)
|
rs143508665
|
|
|
NM_024105.4(ALG12):c.493C>T (p.Leu165=)
|
rs778040010
|
|
|
NM_024120.5(NDUFAF5):c.264-3dup
|
rs751750631
|
|
|
NM_024301.5(FKRP):c.291C>T (p.Pro97=)
|
rs1215872713
|
|
|
NM_024306.5(FA2H):c.762C>T (p.Phe254=)
|
rs797045569
|
|
|
NM_024312.5(GNPTAB):c.1155A>C (p.Ser385=)
|
rs754258764
|
|
|
NM_024312.5(GNPTAB):c.2904A>C (p.Glu968Asp)
|
rs555336070
|
|
|
NM_024312.5(GNPTAB):c.3707A>G (p.Lys1236Arg)
|
rs556318081
|
|
|
NM_024334.3(TMEM43):c.1061G>C (p.Cys354Ser)
|
rs187262922
|
|
|
NM_024334.3(TMEM43):c.418AAG[1] (p.Lys141del)
|
rs746639451
|
|
|
NM_024408.4(NOTCH2):c.15C>G (p.Arg5=)
|
rs4021006
|
|
|
NM_024408.4(NOTCH2):c.3789A>C (p.Gly1263=)
|
rs149036937
|
|
|
NM_024408.4(NOTCH2):c.5781+10A>C
|
rs369586235
|
|
|
NM_024411.5(PDYN):c.73C>T (p.Arg25Trp)
|
|
|
|
NM_024422.6(DSC2):c.1077+9A>G
|
rs369381870
|
|
|
NM_024422.6(DSC2):c.1707C>A (p.Asp569Glu)
|
rs201517977
|
|
|
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del)
|
rs377272752
|
|
|
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs)
|
rs200056085
|
|
|
NM_024422.6(DSC2):c.475-13A>G
|
rs751631188
|
|
|
NM_024422.6(DSC2):c.588T>C (p.Tyr196=)
|
rs1987518239
|
|
|
NM_024426.6(WT1):c.569C>T (p.Pro190Leu)
|
rs757349907
|
|
|
NM_024426.6(WT1):c.764T>A (p.Met255Lys)
|
rs377573993
|
|
|
NM_024496.4(IRF2BPL):c.345GCA[11] (p.Gln127_Leu128insGln)
|
|
|
|
NM_024496.4(IRF2BPL):c.491_492insCGCCGC (p.Ala164_Val165insAlaAla)
|
|
|
|
NM_024496.4(IRF2BPL):c.492CGC[4] (p.Ala164_Val165insAlaAlaAlaAla)
|
|
|
|
NM_024529.5(CDC73):c.-4dup
|
rs545666726
|
|
|
NM_024529.5(CDC73):c.834C>T (p.Pro278=)
|
rs886045714
|
|
|
NM_024537.4(CARS2):c.1683dup (p.Ser562fs)
|
rs575601185
|
|
|
NM_024577.4(SH3TC2):c.*10051ACCA[16]
|
rs57301725
|
|
|
NM_024577.4(SH3TC2):c.*16856CA[22]
|
rs71957589
|
|
|
NM_024577.4(SH3TC2):c.*19563_*19564dup
|
rs5872105
|
|
|
NM_024577.4(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe)
|
rs863224780
|
|
|
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=)
|
rs144873879
|
|
|
NM_024580.6(EFL1):c.91+6A>G
|
|
|
|
NM_024596.5(MCPH1):c.114+5G>A
|
|
|
|
NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn)
|
rs548329168
|
|
|
NM_024596.5(MCPH1):c.1441A>T (p.Ile481Phe)
|
rs768776312
|
|
|
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter)
|
rs572671721
|
|
|
NM_024596.5(MCPH1):c.216G>A (p.Ser72=)
|
rs775942126
|
|
|
NM_024596.5(MCPH1):c.433C>T (p.Leu145=)
|
rs139607465
|
|
|
NM_024608.4(NEIL1):c.314dup (p.Pro106fs)
|
rs556576971
|
|
|
NM_024640.4(YRDC):c.739G>A (p.Gly247Arg)
|
|
|
|
NM_024642.5(GALNT12):c.312C>T (p.Asn104=)
|
|
|
|
NM_024649.5(BBS1):c.316C>G (p.Leu106Val)
|
rs137853913
|
|
|
NM_024675.4(PALB2):c.1103A>G (p.Asn368Ser)
|
rs1060502799
|
|
|
NM_024675.4(PALB2):c.1148T>C (p.Leu383Pro)
|
rs1555461432
|
|
|
NM_024675.4(PALB2):c.1165C>G (p.Leu389Val)
|
rs1555461427
|
|
|
NM_024675.4(PALB2):c.1176A>G (p.Glu392=)
|
rs1555461423
|
|
|
NM_024675.4(PALB2):c.1191A>G (p.Thr397=)
|
rs1597096781
|
|
|
NM_024675.4(PALB2):c.1226A>G (p.Tyr409Cys)
|
rs878855097
|
|
|
NM_024675.4(PALB2):c.1227T>C (p.Tyr409=)
|
rs1555461386
|
|
|
NM_024675.4(PALB2):c.1285A>G (p.Ile429Val)
|
rs1555461360
|
|
|
NM_024675.4(PALB2):c.1376A>G (p.Asp459Gly)
|
rs1031787378
|
|
|
NM_024675.4(PALB2):c.1430C>A (p.Thr477Asn)
|
rs1567221020
|
|
|
NM_024675.4(PALB2):c.1471G>C (p.Ala491Pro)
|
rs577969558
|
|
|
NM_024675.4(PALB2):c.1478C>T (p.Pro493Leu)
|
rs770965402
|
|
|
NM_024675.4(PALB2):c.1506G>C (p.Lys502Asn)
|
rs371142570
|
|
|
NM_024675.4(PALB2):c.1603A>G (p.Ser535Gly)
|
|
|
|
NM_024675.4(PALB2):c.1646A>G (p.His549Arg)
|
rs1597095334
|
|
|
NM_024675.4(PALB2):c.1659C>A (p.His553Gln)
|
rs370318597
|
|
|
NM_024675.4(PALB2):c.1685-7T>G
|
rs1555460705
|
|
|
NM_024675.4(PALB2):c.1746C>T (p.Ser582=)
|
rs1057520985
|
|
|
NM_024675.4(PALB2):c.1781G>A (p.Arg594Lys)
|
rs1597091217
|
|
|
NM_024675.4(PALB2):c.1878A>G (p.Lys626=)
|
rs1567218624
|
|
|
NM_024675.4(PALB2):c.1917G>T (p.Glu639Asp)
|
rs1597090787
|
|
|
NM_024675.4(PALB2):c.2066C>T (p.Ser689Leu)
|
rs749602688
|
|
|
NM_024675.4(PALB2):c.212-10del
|
rs766487430
|
|
|
NM_024675.4(PALB2):c.2148T>A (p.Asn716Lys)
|
rs770145849
|
|
|
NM_024675.4(PALB2):c.2176C>T (p.Pro726Ser)
|
rs566813395
|
|
|
NM_024675.4(PALB2):c.2230G>A (p.Glu744Lys)
|
rs62625278
|
|
|
NM_024675.4(PALB2):c.2267G>A (p.Cys756Tyr)
|
rs925044785
|
|
|
NM_024675.4(PALB2):c.2303G>C (p.Cys768Ser)
|
rs1060502770
|
|
|
NM_024675.4(PALB2):c.236A>G (p.Tyr79Cys)
|
rs766710382
|
|
|
NM_024675.4(PALB2):c.2383C>G (p.Gln795Glu)
|
rs1966856854
|
|
|
NM_024675.4(PALB2):c.2418G>T (p.Pro806=)
|
rs577076372
|
|
|
NM_024675.4(PALB2):c.2437A>G (p.Ile813Val)
|
rs766396469
|
|
|
NM_024675.4(PALB2):c.243G>A (p.Lys81=)
|
rs1060502775
|
|
|
NM_024675.4(PALB2):c.2506G>A (p.Val836Ile)
|
rs536644825
|
|
|
NM_024675.4(PALB2):c.2506G>T (p.Val836Phe)
|
rs536644825
|
|
|
NM_024675.4(PALB2):c.2507_2509del (p.Val836del)
|
rs587782697
|
|
|
NM_024675.4(PALB2):c.2540C>G (p.Ser847Cys)
|
rs1567216902
|
|
|
NM_024675.4(PALB2):c.2561A>G (p.Asn854Ser)
|
rs146455175
|
|
|
NM_024675.4(PALB2):c.2562C>T (p.Asn854=)
|
rs1966853809
|
|
|
NM_024675.4(PALB2):c.2616G>T (p.Val872=)
|
rs1567215519
|
|
|
NM_024675.4(PALB2):c.2645G>T (p.Cys882Phe)
|
rs45486906
|
|
|
NM_024675.4(PALB2):c.2752C>T (p.Pro918Ser)
|
rs515726094
|
|
|
NM_024675.4(PALB2):c.2852C>T (p.Ser951Phe)
|
rs587782889
|
|
|
NM_024675.4(PALB2):c.2858A>G (p.Asp953Gly)
|
rs1555459583
|
|
|
NM_024675.4(PALB2):c.290C>T (p.Ser97Phe)
|
rs776902295
|
|
|
NM_024675.4(PALB2):c.2961A>G (p.Gln987=)
|
rs1555459530
|
|
|
NM_024675.4(PALB2):c.2964A>G (p.Gln988=)
|
rs777244673
|
|
|
NM_024675.4(PALB2):c.2996+9del
|
rs769414858
|
|
|
NM_024675.4(PALB2):c.3049G>A (p.Ala1017Thr)
|
rs759795184
|
|
|
NM_024675.4(PALB2):c.3053A>C (p.Glu1018Ala)
|
rs1567212910
|
|
|
NM_024675.4(PALB2):c.3054G>T (p.Glu1018Asp)
|
rs183489969
|
|
|
NM_024675.4(PALB2):c.3202-8G>T
|
rs367979106
|
|
|
NM_024675.4(PALB2):c.3256C>G (p.Arg1086Gly)
|
rs587776527
|
|
|
NM_024675.4(PALB2):c.3307G>A (p.Val1103Met)
|
rs201657283
|
|
|
NM_024675.4(PALB2):c.3307G>C (p.Val1103Leu)
|
rs201657283
|
|
|
NM_024675.4(PALB2):c.3321G>A (p.Leu1107=)
|
rs515726113
|
|
|
NM_024675.4(PALB2):c.341G>A (p.Gly114Glu)
|
rs1567223045
|
|
|
NM_024675.4(PALB2):c.3500C>T (p.Thr1167Ile)
|
rs1308784980
|
|
|
NM_024675.4(PALB2):c.3504C>G (p.Asp1168Glu)
|
rs1966396729
|
|
|
NM_024675.4(PALB2):c.365A>G (p.Asp122Gly)
|
rs866367185
|
|
|
NM_024675.4(PALB2):c.388C>T (p.His130Tyr)
|
rs1555461809
|
|
|
NM_024675.4(PALB2):c.48+5C>T
|
rs1555462488
|
|
|
NM_024675.4(PALB2):c.485G>C (p.Cys162Ser)
|
rs1555461779
|
|
|
NM_024675.4(PALB2):c.508A>G (p.Arg170Gly)
|
rs864622622
|
|
|
NM_024675.4(PALB2):c.557A>T (p.Asn186Ile)
|
rs587782164
|
|
|
NM_024675.4(PALB2):c.583A>G (p.Ile195Val)
|
rs760784181
|
|
|
NM_024675.4(PALB2):c.833_834delinsAT (p.Leu278His)
|
rs587778582
|
|
|
NM_024675.4(PALB2):c.846A>T (p.Arg282Ser)
|
rs1555461587
|
|
|
NM_024675.4(PALB2):c.850A>G (p.Thr284Ala)
|
rs1555461584
|
|
|
NM_024675.4(PALB2):c.908T>C (p.Leu303Pro)
|
rs774057025
|
|
|
NM_024685.4(BBS10):c.1158G>A (p.Leu386=)
|
rs138702315
|
|
|
NM_024685.4(BBS10):c.147G>A (p.Arg49=)
|
rs1592493118
|
|
|
NM_024685.4(BBS10):c.1684T>C (p.Leu562=)
|
rs111773727
|
|
|
NM_024740.2(ALG9):c.125G>C (p.Arg42Pro)
|
rs781880611
|
|
|
NM_024753.5(TTC21B):c.2530A>G (p.Met844Val)
|
rs766811699
|
|
|
NM_024757.5(EHMT1):c.13G>A (p.Asp5Asn)
|
rs1050977100
|
|
|
NM_024757.5(EHMT1):c.216C>A (p.His72Gln)
|
rs374930132
|
|
|
NM_024757.5(EHMT1):c.2803G>A (p.Val935Met)
|
rs762121901
|
|
|
NM_024757.5(EHMT1):c.2839G>A (p.Ala947Thr)
|
rs797045555
|
|
|
NM_024757.5(EHMT1):c.324C>G (p.His108Gln)
|
rs574402576
|
|
|
NM_024757.5(EHMT1):c.35G>C (p.Arg12Thr)
|
rs777999570
|
|
|
NM_024757.5(EHMT1):c.3853G>C (p.Gly1285Arg)
|
|
|
|
NM_024757.5(EHMT1):c.390G>A (p.Pro130=)
|
rs144323841
|
|
|
NM_024757.5(EHMT1):c.91C>T (p.Pro31Ser)
|
rs759512176
|
|
|
NM_024915.4(GRHL2):c.1764-12C>G
|
rs371424751
|
|
|
NM_024996.7(GFM1):c.1083+3A>G
|
rs187690169
|
|
|
NM_024996.7(GFM1):c.56C>T (p.Ala19Val)
|
rs567086019
|
|
|
NM_025000.4(DCAF17):c.231-8T>A
|
|
|
|
NM_025000.4(DCAF17):c.95A>C (p.Asn32Thr)
|
rs748586810
|
|
|
NM_025009.5(CEP135):c.1644_1646del (p.Ala549del)
|
rs776271846
|
|
|
NM_025009.5(CEP135):c.369A>G (p.Gln123=)
|
rs147451921
|
|
|
NM_025009.5(CEP135):c.998AAG[2] (p.Glu335del)
|
rs374626758
|
|
|
NM_025074.7(FRAS1):c.11274C>A (p.His3758Gln)
|
|
|
|
NM_025074.7(FRAS1):c.3514G>A (p.Asp1172Asn)
|
|
|
|
NM_025074.7(FRAS1):c.4365G>C (p.Ala1455=)
|
rs375417798
|
|
|
NM_025074.7(FRAS1):c.6009C>T (p.His2003=)
|
|
|
|
NM_025074.7(FRAS1):c.8283C>T (p.Ser2761=)
|
|
|
|
NM_025077.4(TOE1):c.-54G>T
|
rs540793556
|
|
|
NM_025077.4(TOE1):c.1063A>T (p.Thr355Ser)
|
|
|
|
NM_025077.4(TOE1):c.492+5G>A
|
rs200132965
|
|
|
NM_025099.6(CTC1):c.2060+12G>A
|
rs1987317835
|
|
|
NM_025099.6(CTC1):c.2253A>G (p.Gly751=)
|
rs1164794062
|
|
|
NM_025099.6(CTC1):c.615C>T (p.Tyr205=)
|
rs571035242
|
|
|
NM_025103.4(IFT74):c.173G>A (p.Gly58Asp)
|
|
|
|
NM_025114.4(CEP290):c.1199C>T (p.Thr400Ile)
|
rs773578133
|
|
|
NM_025114.4(CEP290):c.1554T>A (p.Thr518=)
|
|
|
|
NM_025114.4(CEP290):c.1624-5T>G
|
rs142742071
|
|
|
NM_025114.4(CEP290):c.2067G>A (p.Lys689=)
|
rs1425613490
|
|
|
NM_025114.4(CEP290):c.2484-18GTTTT[4]
|
rs745522483
|
|
|
NM_025114.4(CEP290):c.251-19dup
|
rs752284551
|
|
|
NM_025114.4(CEP290):c.251-4del
|
rs759170743
|
|
|
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp)
|
rs181121175
|
|
|
NM_025114.4(CEP290):c.5226+6T>G
|
|
|
|
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs)
|
rs569673313
|
|
|
NM_025132.4(WDR19):c.553C>G (p.Gln185Glu)
|
rs769602871
|
|
|
NM_025137.4(SPG11):c.1558C>T (p.Leu520Phe)
|
rs557277528
|
|
|
NM_025137.4(SPG11):c.3132C>G (p.Ala1044=)
|
rs770666794
|
|
|
NM_025137.4(SPG11):c.3138C>T (p.Asn1046=)
|
rs2083512162
|
|
|
NM_025137.4(SPG11):c.4052G>A (p.Arg1351Lys)
|
rs564171625
|
|
|
NM_025137.4(SPG11):c.4161+9C>G
|
rs1555451101
|
|
|
NM_025137.4(SPG11):c.4162-10T>C
|
rs765557765
|
|
|
NM_025137.4(SPG11):c.4162-4C>T
|
rs777010404
|
|
|
NM_025137.4(SPG11):c.437A>G (p.Asp146Gly)
|
rs182535774
|
|
|
NM_025137.4(SPG11):c.6007-6T>C
|
rs886051180
|
|
|
NM_025137.4(SPG11):c.60G>C (p.Ala20=)
|
rs544136842
|
|
|
NM_025137.4(SPG11):c.6283T>C (p.Leu2095=)
|
rs2082448894
|
|
|
NM_025137.4(SPG11):c.6477+13del
|
rs574960359
|
|
|
NM_025137.4(SPG11):c.7000-8C>T
|
rs886051177
|
|
|
NM_025137.4(SPG11):c.7151+11A>C
|
rs779150349
|
|
|
NM_025137.4(SPG11):c.7152-6A>G
|
rs2082233766
|
|
|
NM_025144.4(ALPK1):c.3538+15G>A
|
|
|
|
NM_025179.4(PLXNA2):c.1315G>A (p.Val439Ile)
|
|
|
|
NM_025179.4(PLXNA2):c.1506G>A (p.Gln502=)
|
|
|
|
NM_025207.5(FLAD1):c.503A>G (p.Asn168Ser)
|
rs150372864
|
|
|
NM_025215.6(PUS1):c.544+6C>T
|
|
|
|
NM_025215.6(PUS1):c.545-3del
|
|
|
|
NM_025243.4(SLC19A3):c.*8G>A
|
rs188532608
|
|
|
NM_025243.4(SLC19A3):c.*8G>T
|
rs188532608
|
|
|
NM_025243.4(SLC19A3):c.1204C>T (p.Arg402Cys)
|
rs150523975
|
|
|
NM_025243.4(SLC19A3):c.390G>T (p.Val130=)
|
rs376187918
|
|
|
NM_025243.4(SLC19A3):c.399C>G (p.Pro133=)
|
rs138363524
|
|
|
NM_025265.4(TSEN2):c.560G>C (p.Arg187Pro)
|
rs146117200
|
|
|
NM_030632.3(ASXL3):c.6078_6083del (p.Pro2027_Pro2028del)
|
rs1235588816
|
|
|
NM_030662.4(MAP2K2):c.291C>G (p.Ile97Met)
|
rs200918323
|
|
|
NM_030662.4(MAP2K2):c.49A>G (p.Thr17Ala)
|
rs397517415
|
|
|
NM_030662.4(MAP2K2):c.806C>G (p.Pro269Arg)
|
rs368064728
|
|
|
NM_030662.4(MAP2K2):c.813C>G (p.Asp271Glu)
|
rs201726622
|
|
|
NM_030662.4(MAP2K2):c.860AAG[1] (p.Glu288del)
|
rs763469132
|
|
|
NM_030662.4(MAP2K2):c.919+10_919+12delinsAAG
|
rs1064794489
|
|
|
NM_030665.4(RAI1):c.1054C>T (p.Arg352Cys)
|
rs907728820
|
|
|
NM_030665.4(RAI1):c.1606C>T (p.Arg536Cys)
|
rs149164900
|
|
|
NM_030665.4(RAI1):c.1616C>T (p.Pro539Leu)
|
rs2032158187
|
|
|
NM_030665.4(RAI1):c.1665C>G (p.Thr555=)
|
rs769515020
|
|
|
NM_030665.4(RAI1):c.1740G>T (p.Pro580=)
|
rs138768616
|
|
|
NM_030665.4(RAI1):c.176A>G (p.Tyr59Cys)
|
rs1240460489
|
|
|
NM_030665.4(RAI1):c.1775G>A (p.Arg592Gln)
|
rs141808855
|
|
|
NM_030665.4(RAI1):c.2289C>T (p.Gly763=)
|
|
|
|
NM_030665.4(RAI1):c.2404_2406del (p.Lys802del)
|
rs779691871
|
|
|
NM_030665.4(RAI1):c.2506C>G (p.Arg836Gly)
|
rs370508336
|
|
|
NM_030665.4(RAI1):c.2931C>A (p.Asn977Lys)
|
rs754379238
|
|
|
NM_030665.4(RAI1):c.3270C>G (p.Ala1090=)
|
rs398124416
|
|
|
NM_030665.4(RAI1):c.3724C>T (p.Arg1242Trp)
|
|
|
|
NM_030665.4(RAI1):c.3725G>A (p.Arg1242Gln)
|
|
|
|
NM_030665.4(RAI1):c.3731GCA[5] (p.Ser1249del)
|
|
|
|
NM_030665.4(RAI1):c.3731GCA[7] (p.Ser1249dup)
|
rs760919336
|
|
|
NM_030665.4(RAI1):c.3820T>C (p.Ser1274Pro)
|
|
|
|
NM_030665.4(RAI1):c.467A>G (p.Gln156Arg)
|
rs977107435
|
|
|
NM_030665.4(RAI1):c.5172G>T (p.Arg1724=)
|
rs766240657
|
|
|
NM_030665.4(RAI1):c.517G>A (p.Val173Ile)
|
rs573327073
|
|
|
NM_030665.4(RAI1):c.5517C>T (p.Ala1839=)
|
rs377747563
|
|
|
NM_030665.4(RAI1):c.834GCA[16] (p.Gln289_Gln291dup)
|
rs371983878
|
|
|
NM_030665.4(RAI1):c.834GCA[17] (p.Gln288_Gln291dup)
|
rs371983878
|
|
|
NM_030665.4(RAI1):c.834GCA[20] (p.Gln285_Gln291dup)
|
rs371983878
|
|
|
NM_030665.4(RAI1):c.834GCA[5] (p.Gln284_Gln291del)
|
rs371983878
|
|
|
NM_030665.4(RAI1):c.834GCA[6] (p.Gln285_Gln291del)
|
rs371983878
|
|
|
NM_030665.4(RAI1):c.834GCA[7] (p.Gln286_Gln291del)
|
rs371983878
|
|
|
NM_030665.4(RAI1):c.849G>A (p.Gln283=)
|
rs886042730
|
|
|
NM_030665.4(RAI1):c.980C>G (p.Ala327Gly)
|
rs1555565043
|
|
|
NM_030665.4(RAI1):c.986G>A (p.Arg329Gln)
|
|
|
|
NM_030753.5(WNT3):c.309C>A (p.Pro103=)
|
rs749737942
|
|
|
NM_030777.4(SLC2A10):c.1057C>G (p.Leu353Val)
|
rs200196034
|
|
|
NM_030777.4(SLC2A10):c.625C>T (p.Leu209=)
|
rs748662135
|
|
|
NM_030780.5(SLC25A32):c.822C>T (p.Gly274=)
|
|
|
|
NM_030787.4(CFHR5):c.206G>A (p.Arg69His)
|
rs375843181
|
|
|
NM_030787.4(CFHR5):c.254-2_266dup
|
rs781568341
|
|
|
NM_030787.4(CFHR5):c.427A>C (p.Thr143Pro)
|
rs138529008
|
|
|
NM_030787.4(CFHR5):c.485_486dup (p.Glu163fs)
|
rs565457964
|
|
|
NM_030787.4(CFHR5):c.486dup (p.Glu163fs)
|
rs565457964
|
|
|
NM_030787.4(CFHR5):c.647A>G (p.Asn216Ser)
|
rs147488267
|
|
|
NM_030787.4(CFHR5):c.903T>C (p.Tyr301=)
|
rs886045751
|
|
|
NM_030787.4(CFHR5):c.993C>A (p.Cys331Ter)
|
rs751010317
|
|
|
NM_030930.4(UNC93B1):c.516C>T (p.Ile172=)
|
|
|
|
NM_030957.4(ADAMTS10):c.1890G>A (p.Thr630=)
|
|
|
|
NM_030962.4(SBF2):c.3652+6C>T
|
rs1057524041
|
|
|
NM_030962.4(SBF2):c.5017GAA[1] (p.Glu1674del)
|
rs572571832
|
|
|
NM_031307.4(PUS3):c.-47+3A>G
|
|
|
|
NM_031372.4(HNRNPDL):c.245G>T (p.Arg82Leu)
|
rs200595389
|
|
|
NM_031372.4(HNRNPDL):c.324_341del (p.Arg109_Ala114del)
|
rs760683509
|
|
|
NM_031372.4(HNRNPDL):c.92GGCCGC[3] (p.31RP[3])
|
rs1447722708
|
|
|
NM_031407.7(HUWE1):c.10476CAC[3] (p.Thr3496del)
|
|
|
|
NM_031407.7(HUWE1):c.8206+6T>C
|
|
|
|
NM_031407.7(HUWE1):c.9920G>T (p.Gly3307Val)
|
|
|
|
NM_031433.4(MFRP):c.909G>C (p.Gly303=)
|
rs777996384
|
|
|
NM_031475.3(ESPN):c.451T>A (p.Phe151Ile)
|
rs139223525
|
|
|
NM_031844.3(HNRNPU):c.365AGG[3] (p.Glu125del)
|
rs747108904
|
|
|
NM_031885.5(BBS2):c.118-16_118-13del
|
rs758674101
|
|
|
NM_031892.3(SH3KBP1):c.226G>A (p.Glu76Lys)
|
|
|
|
NM_031935.3(HMCN1):c.4816C>A (p.Pro1606Thr)
|
|
|
|
NM_031935.3(HMCN1):c.8291-10T>G
|
|
|
|
NM_031935.3(HMCN1):c.9475G>A (p.Glu3159Lys)
|
|
|
|
NM_032043.3(BRIP1):c.1093A>G (p.Ile365Val)
|
rs749251680
|
|
|
NM_032043.3(BRIP1):c.1141-9A>G
|
rs1555607258
|
|
|
NM_032043.3(BRIP1):c.1170C>T (p.Val390=)
|
rs754755989
|
|
|
NM_032043.3(BRIP1):c.1432C>T (p.His478Tyr)
|
rs761452695
|
|
|
NM_032043.3(BRIP1):c.1546G>A (p.Val516Ile)
|
rs1567816972
|
|
|
NM_032043.3(BRIP1):c.1552G>A (p.Val518Ile)
|
rs786201701
|
|
|
NM_032043.3(BRIP1):c.1760A>G (p.His587Arg)
|
rs876660646
|
|
|
NM_032043.3(BRIP1):c.1795-12_1795-10del
|
rs1475317357
|
|
|
NM_032043.3(BRIP1):c.1917T>C (p.His639=)
|
rs763534423
|
|
|
NM_032043.3(BRIP1):c.2258-3A>G
|
rs786203561
|
|
|
NM_032043.3(BRIP1):c.2493-10T>A
|
rs776255327
|
|
|
NM_032043.3(BRIP1):c.2552A>G (p.Asn851Ser)
|
rs2061477443
|
|
|
NM_032043.3(BRIP1):c.2627G>A (p.Ser876Asn)
|
rs750961319
|
|
|
NM_032043.3(BRIP1):c.2812G>A (p.Glu938Lys)
|
rs199643061
|
|
|
NM_032043.3(BRIP1):c.2906-7T>C
|
rs1237575383
|
|
|
NM_032043.3(BRIP1):c.2948T>C (p.Ile983Thr)
|
rs587781417
|
|
|
NM_032043.3(BRIP1):c.2994G>C (p.Lys998Asn)
|
rs757225144
|
|
|
NM_032043.3(BRIP1):c.3337A>G (p.Lys1113Glu)
|
rs2061310712
|
|
|
NM_032043.3(BRIP1):c.3431A>G (p.Glu1144Gly)
|
rs774605759
|
|
|
NM_032043.3(BRIP1):c.3572T>C (p.Ile1191Thr)
|
rs2061301543
|
|
|
NM_032043.3(BRIP1):c.3631G>A (p.Gly1211Ser)
|
rs1567727439
|
|
|
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys)
|
rs542698396
|
|
|
NM_032043.3(BRIP1):c.370A>G (p.Thr124Ala)
|
rs45617634
|
|
|
NM_032043.3(BRIP1):c.387T>C (p.Pro129=)
|
rs779324498
|
|
|
NM_032043.3(BRIP1):c.408A>C (p.Ala136=)
|
rs876660891
|
|
|
NM_032043.3(BRIP1):c.436A>G (p.Ile146Val)
|
rs1567868598
|
|
|
NM_032043.3(BRIP1):c.485G>A (p.Arg162Gln)
|
rs61757643
|
|
|
NM_032043.3(BRIP1):c.487C>T (p.Pro163Ser)
|
rs1064795902
|
|
|
NM_032043.3(BRIP1):c.507+9_507+10del
|
rs747185394
|
|
|
NM_032043.3(BRIP1):c.618G>T (p.Ser206=)
|
rs367614726
|
|
|
NM_032043.3(BRIP1):c.627+7A>G
|
rs1060504334
|
|
|
NM_032043.3(BRIP1):c.636C>A (p.Gly212=)
|
rs1057520255
|
|
|
NM_032043.3(BRIP1):c.700AAG[1] (p.Lys235del)
|
rs876659379
|
|
|
NM_032043.3(BRIP1):c.93+8T>G
|
rs1567878012
|
|
|
NM_032119.4(ADGRV1):c.1049C>A (p.Thr350Asn)
|
rs727504607
|
|
|
NM_032119.4(ADGRV1):c.10997A>G (p.Glu3666Gly)
|
|
|
|
NM_032119.4(ADGRV1):c.11157C>A (p.Ile3719=)
|
rs762094907
|
|
|
NM_032119.4(ADGRV1):c.12506A>G (p.Tyr4169Cys)
|
rs577389548
|
|
|
NM_032119.4(ADGRV1):c.12632G>A (p.Arg4211Gln)
|
rs768374513
|
|
|
NM_032119.4(ADGRV1):c.13048T>C (p.Ser4350Pro)
|
|
|
|
NM_032119.4(ADGRV1):c.13130C>A (p.Pro4377His)
|
rs542081391
|
|
|
NM_032119.4(ADGRV1):c.13668A>G (p.Thr4556=)
|
rs758546069
|
|
|
NM_032119.4(ADGRV1):c.13714A>T (p.Ile4572Phe)
|
rs727503082
|
|
|
NM_032119.4(ADGRV1):c.14432C>T (p.Pro4811Leu)
|
rs201747452
|
|
|
NM_032119.4(ADGRV1):c.14496C>A (p.Asp4832Glu)
|
rs753803615
|
|
|
NM_032119.4(ADGRV1):c.14719G>A (p.Val4907Ile)
|
rs373391623
|
|
|
NM_032119.4(ADGRV1):c.14928C>T (p.His4976=)
|
rs1251473317
|
|
|
NM_032119.4(ADGRV1):c.15293A>C (p.Glu5098Ala)
|
|
|
|
NM_032119.4(ADGRV1):c.15837C>A (p.Ile5279=)
|
rs765630970
|
|
|
NM_032119.4(ADGRV1):c.16248C>G (p.Val5416=)
|
rs3763073
|
|
|
NM_032119.4(ADGRV1):c.16249G>A (p.Val5417Ile)
|
rs375876245
|
|
|
NM_032119.4(ADGRV1):c.16999A>T (p.Met5667Leu)
|
rs201767389
|
|
|
NM_032119.4(ADGRV1):c.17987G>T (p.Trp5996Leu)
|
rs544077645
|
|
|
NM_032119.4(ADGRV1):c.18092T>C (p.Ile6031Thr)
|
|
|
|
NM_032119.4(ADGRV1):c.18433-9_18433-5del
|
rs35858094
|
|
|
NM_032119.4(ADGRV1):c.2106G>A (p.Val702=)
|
rs749630454
|
|
|
NM_032119.4(ADGRV1):c.2264T>C (p.Leu755Pro)
|
|
|
|
NM_032119.4(ADGRV1):c.2567A>G (p.Tyr856Cys)
|
rs558804189
|
|
|
NM_032119.4(ADGRV1):c.3222A>G (p.Ile1074Met)
|
rs751404994
|
|
|
NM_032119.4(ADGRV1):c.3978T>A (p.Asp1326Glu)
|
rs546224817
|
|
|
NM_032119.4(ADGRV1):c.5018G>C (p.Gly1673Ala)
|
|
|
|
NM_032119.4(ADGRV1):c.505C>T (p.Leu169Phe)
|
rs952062982
|
|
|
NM_032119.4(ADGRV1):c.5104C>T (p.Pro1702Ser)
|
rs535038304
|
|
|
NM_032119.4(ADGRV1):c.5155G>A (p.Ala1719Thr)
|
|
|
|
NM_032119.4(ADGRV1):c.5784C>T (p.Ser1928=)
|
rs199605700
|
|
|
NM_032119.4(ADGRV1):c.5785G>T (p.Ala1929Ser)
|
rs41311335
|
|
|
NM_032119.4(ADGRV1):c.5830G>T (p.Asp1944Tyr)
|
rs41302834
|
|
|
NM_032119.4(ADGRV1):c.5953A>C (p.Asn1985His)
|
rs41303352
|
|
|
NM_032119.4(ADGRV1):c.600A>G (p.Pro200=)
|
rs776978539
|
|
|
NM_032119.4(ADGRV1):c.6290G>A (p.Arg2097His)
|
rs572910896
|
|
|
NM_032119.4(ADGRV1):c.7095G>A (p.Leu2365=)
|
rs794727564
|
|
|
NM_032119.4(ADGRV1):c.7150C>T (p.Arg2384Trp)
|
rs377475657
|
|
|
NM_032119.4(ADGRV1):c.7307T>G (p.Leu2436Arg)
|
|
|
|
NM_032119.4(ADGRV1):c.740C>T (p.Thr247Ile)
|
|
|
|
NM_032119.4(ADGRV1):c.8198G>T (p.Arg2733Leu)
|
rs749383906
|
|
|
NM_032119.4(ADGRV1):c.8291C>G (p.Ser2764Trp)
|
rs16869016
|
|
|
NM_032119.4(ADGRV1):c.8488C>G (p.Leu2830Val)
|
rs555466095
|
|
|
NM_032119.4(ADGRV1):c.896A>G (p.Tyr299Cys)
|
|
|
|
NM_032119.4(ADGRV1):c.9261A>T (p.Arg3087Ser)
|
|
|
|
NM_032119.4(ADGRV1):c.9557C>A (p.Thr3186Asn)
|
rs201511311
|
|
|
NM_032119.4(ADGRV1):c.9896T>A (p.Ile3299Asn)
|
|
|
|
NM_032119.4(ADGRV1):c.9906+9C>T
|
|
|
|
NM_032193.4(RNASEH2C):c.468+8G>A
|
rs751767695
|
|
|
NM_032242.4(PLXNA1):c.1556C>T (p.Thr519Met)
|
|
|
|
NM_032242.4(PLXNA1):c.1786G>A (p.Val596Ile)
|
|
|
|
NM_032242.4(PLXNA1):c.258G>A (p.Thr86=)
|
|
|
|
NM_032242.4(PLXNA1):c.2690G>A (p.Arg897His)
|
|
|
|
NM_032242.4(PLXNA1):c.329G>A (p.Ser110Asn)
|
|
|
|
NM_032242.4(PLXNA1):c.4702C>T (p.Leu1568=)
|
|
|
|
NM_032357.4(CCDC115):c.406C>G (p.Gln136Glu)
|
|
|
|
NM_032382.5(COG8):c.1413+12C>G
|
rs977274573
|
|
|
NM_032383.5(HPS3):c.887G>A (p.Arg296His)
|
|
|
|
NM_032444.4(SLX4):c.1164-9G>A
|
rs2040686112
|
|
|
NM_032444.4(SLX4):c.258AAG[1] (p.Arg87del)
|
rs536289991
|
|
|
NM_032444.4(SLX4):c.4057C>A (p.His1353Asn)
|
rs142205392
|
|
|
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp)
|
rs137976282
|
|
|
NM_032444.4(SLX4):c.426T>A (p.Gly142=)
|
rs377500336
|
|
|
NM_032444.4(SLX4):c.4485G>A (p.Ala1495=)
|
rs140872903
|
|
|
NM_032444.4(SLX4):c.5040G>T (p.Arg1680Ser)
|
rs199592185
|
|
|
NM_032447.5(FBN3):c.5012G>A (p.Arg1671Gln)
|
|
|
|
NM_032447.5(FBN3):c.5519C>T (p.Ala1840Val)
|
|
|
|
NM_032520.5(GNPTG):c.11G>A (p.Gly4Glu)
|
rs574801192
|
|
|
NM_032520.5(GNPTG):c.6G>T (p.Ala2=)
|
rs886051658
|
|
|
NM_032520.5(GNPTG):c.798C>T (p.His266=)
|
rs375787769
|
|
|
NM_032578.4(MYPN):c.1445G>A (p.Arg482Lys)
|
rs773665854
|
|
|
NM_032578.4(MYPN):c.1875C>G (p.Pro625=)
|
rs2673793
|
|
|
NM_032578.4(MYPN):c.2409C>A (p.Ser803Arg)
|
rs3814182
|
|
|
NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp)
|
rs149887823
|
|
|
NM_032578.4(MYPN):c.3122T>A (p.Ile1041Asn)
|
rs754227127
|
|
|
NM_032578.4(MYPN):c.3205C>A (p.Arg1069Ser)
|
rs368448794
|
|
|
NM_032578.4(MYPN):c.360T>A (p.Asp120Glu)
|
rs794729068
|
|
|
NM_032578.4(MYPN):c.662A>T (p.Asp221Val)
|
rs185841477
|
|
|
NM_032581.4(HYCC1):c.930T>G (p.Ser310=)
|
rs762598890
|
|
|
NM_032603.5(LOXL3):c.1330_1332del (p.Leu444del)
|
rs574365163
|
|
|
NM_032608.7(MYO18B):c.5364G>A (p.Gln1788=)
|
rs2146387686
|
|
|
NM_032608.7(MYO18B):c.75G>A (p.Ser25=)
|
|
|
|
NM_032620.4(GTPBP3):c.807C>T (p.Leu269=)
|
|
|
|
NM_032634.4(PIGO):c.1758C>T (p.Val586=)
|
rs144103228
|
|
|
NM_032634.4(PIGO):c.2979G>A (p.Leu993=)
|
rs1554672011
|
|
|
NM_032634.4(PIGO):c.3141-9T>A
|
rs374227554
|
|
|
NM_032634.4(PIGO):c.387C>A (p.Thr129=)
|
rs765968784
|
|
|
NM_032656.4(DHX37):c.3082G>A (p.Glu1028Lys)
|
|
|
|
NM_032656.4(DHX37):c.3216+3A>G
|
|
|
|
NM_032856.5(WDR73):c.1132dup (p.Arg378fs)
|
rs747109506
|
|
|
NM_032861.4(SERAC1):c.98TAA[1] (p.Ile34del)
|
rs754630732
|
|
|
NM_032888.4(COL27A1):c.1727G>T (p.Ser576Ile)
|
rs148019836
|
|
|
NM_032888.4(COL27A1):c.4120C>G (p.Leu1374Val)
|
rs150399981
|
|
|
NM_032977.4(CASP10):c.534A>G (p.Val178=)
|
rs146233833
|
|
|
NM_033004.4(NLRP1):c.3721G>A (p.Val1241Ile)
|
rs11653832
|
|
|
NM_033022.4(RPS24):c.280-11_280-10del
|
rs756756010
|
|
|
NM_033026.6(PCLO):c.6532C>T (p.Pro2178Ser)
|
rs201432429
|
|
|
NM_033028.5(BBS4):c.1106+3A>G
|
rs886038704
|
|
|
NM_033028.5(BBS4):c.1451-6dup
|
rs770389663
|
|
|
NM_033056.4(PCDH15):c.4902del (p.Glu1635fs)
|
|
|
|
NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs)
|
rs1491209806
|
|
|
NM_033056.4(PCDH15):c.5100_5101dup (p.Ser1701fs)
|
rs918473867
|
|
|
NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del)
|
rs397517462
|
|
|
NM_033056.4(PCDH15):c.5269_5280del (p.Ser1757_Pro1760del)
|
rs397517463
|
|
|
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1])
|
rs397517465
|
|
|
NM_033056.4(PCDH15):c.5296_5304dup (p.Ala1766_Pro1768dup)
|
rs397517466
|
|
|
NM_033056.4(PCDH15):c.5327_5335del (p.Leu1776_Cys1778del)
|
rs397517467
|
|
|
NM_033056.4(PCDH15):c.5332dup (p.Cys1778fs)
|
rs1338600699
|
|
|
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs)
|
rs748086016
|
|
|
NM_033056.4(PCDH15):c.5363TTCCTC[1] (p.1788LP[1])
|
rs779691085
|
|
|
NM_033056.4(PCDH15):c.5486del (p.Pro1829fs)
|
rs1564532058
|
|
|
NM_033056.4(PCDH15):c.5630_5633del (p.Arg1877fs)
|
rs794727570
|
|
|
NM_033056.4(PCDH15):c.5721_5724del (p.Leu1908fs)
|
rs568470164
|
|
|
NM_033056.4(PCDH15):c.5721_5724dup (p.Arg1909fs)
|
rs568470164
|
|
|
NM_033100.4(CDHR1):c.152-12_152-11del
|
rs767478332
|
|
|
NM_033100.4(CDHR1):c.159C>T (p.His53=)
|
rs12781048
|
|
|
NM_033109.5(PNPT1):c.1231G>A (p.Val411Ile)
|
rs551750608
|
|
|
NM_033109.5(PNPT1):c.1563G>A (p.Lys521=)
|
rs863224169
|
|
|
NM_033109.5(PNPT1):c.2148+8G>C
|
|
|
|
NM_033118.4(MYLK2):c.254G>A (p.Gly85Glu)
|
rs727505328
|
|
|
NM_033159.4(HYAL1):c.1047G>A (p.Leu349=)
|
rs782279681
|
|
|
NM_033159.4(HYAL1):c.1176G>A (p.Thr392=)
|
rs587680396
|
|
|
NM_033159.4(HYAL1):c.454C>T (p.Arg152Trp)
|
rs587774476
|
|
|
NM_033163.5(FGF8):c.86_103dup (p.Gly29_Arg34dup)
|
rs762175290
|
|
|
NM_033305.3(VPS13A):c.7044T>A (p.Pro2348=)
|
rs143259810
|
|
|
NM_033305.3(VPS13A):c.9189+2545TGA[6]
|
rs113052866
|
|
|
NM_033337.3(CAV3):c.312G>A (p.Val104=)
|
rs794727305
|
|
|
NM_033337.3(CAV3):c.399C>T (p.Phe133=)
|
rs769859957
|
|
|
NM_033337.3(CAV3):c.402G>C (p.Ala134=)
|
rs559206877
|
|
|
NM_033343.4(LHX4):c.724_726del (p.Lys242del)
|
rs771109452
|
|
|
NM_033380.3(COL4A5):c.-25_-8dup
|
rs752443408
|
|
|
NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys)
|
rs144282156
|
|
|
NM_033380.3(COL4A5):c.639A>G (p.Gly213=)
|
rs2147770243
|
|
|
NM_033419.5(PGAP3):c.371G>A (p.Arg124His)
|
|
|
|
NM_033641.4(COL4A6):c.1384G>A (p.Glu462Lys)
|
|
|
|
NM_033641.4(COL4A6):c.2023+4T>C
|
|
|
|
NM_033641.4(COL4A6):c.2230G>A (p.Gly744Ser)
|
|
|
|
NM_033641.4(COL4A6):c.2685G>T (p.Lys895Asn)
|
rs150454971
|
|
|
NM_033641.4(COL4A6):c.780+4G>A
|
|
|
|
NM_033641.4(COL4A6):c.953A>G (p.Lys318Arg)
|
|
|
|
NM_052813.5(CARD9):c.1090C>A (p.Arg364=)
|
rs151211588
|
|
|
NM_052813.5(CARD9):c.1104C>T (p.His368=)
|
rs145052557
|
|
|
NM_052813.5(CARD9):c.1312-13CT[2]
|
rs770532797
|
|
|
NM_052813.5(CARD9):c.1434+1G>C
|
rs141992399
|
|
|
NM_052845.4(MMAB):c.378G>A (p.Ser126=)
|
rs749452007
|
|
|
NM_052845.4(MMAB):c.576C>T (p.Ala192=)
|
rs757562796
|
|
|
NM_052845.4(MMAB):c.57C>T (p.Arg19=)
|
rs10774774
|
|
|
NM_052859.4(RFT1):c.477G>C (p.Ser159=)
|
rs750521781
|
|
|
NM_052865.4(MGME1):c.842A>G (p.His281Arg)
|
|
|
|
NM_052867.4(NALCN):c.1434+5T>C
|
|
|
|
NM_052867.4(NALCN):c.3852C>A (p.Gly1284=)
|
rs772803115
|
|
|
NM_052867.4(NALCN):c.4977C>G (p.Asp1659Glu)
|
rs78817184
|
|
|
NM_052867.4(NALCN):c.5127G>A (p.Ala1709=)
|
rs111638537
|
|
|
NM_052872.4(IL17F):c.456C>T (p.Cys152=)
|
rs1345707985
|
|
|
NM_052945.4(TNFRSF13C):c.255G>C (p.Leu85=)
|
rs544076556
|
|
|
NM_052989.3(IFT122):c.132C>G (p.Thr44=)
|
rs371772807
|
|
|
NM_052989.3(IFT122):c.2181C>T (p.Thr727=)
|
rs545131069
|
|
|
NM_053025.4(MYLK):c.*1174_*1177dup
|
rs146691098
|
|
|
NM_053025.4(MYLK):c.1048G>A (p.Ala350Thr)
|
rs532659627
|
|
|
NM_053025.4(MYLK):c.1179TGT[1] (p.Val395del)
|
rs771815695
|
|
|
NM_053025.4(MYLK):c.1327C>A (p.Pro443Thr)
|
rs35156360
|
|
|
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys)
|
rs138172035
|
|
|
NM_053025.4(MYLK):c.2760C>G (p.Ala920=)
|
rs368080781
|
|
|
NM_053025.4(MYLK):c.3024G>A (p.Val1008=)
|
rs886057860
|
|
|
NM_053025.4(MYLK):c.3184G>T (p.Ala1062Ser)
|
rs11558550
|
|
|
NM_053025.4(MYLK):c.3637G>C (p.Val1213Leu)
|
rs368390254
|
|
|
NM_053025.4(MYLK):c.3832-8G>C
|
rs202218458
|
|
|
NM_053025.4(MYLK):c.4289-3del
|
rs41431347
|
|
|
NM_053025.4(MYLK):c.999G>T (p.Pro333=)
|
rs13319347
|
|
|
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu)
|
rs35269064
|
|
|
NM_058195.4(CDKN2A):c.194-3653G>C
|
rs1800586
|
|
|
NM_058216.3(RAD51C):c.-7G>A
|
rs753249247
|
|
|
NM_058216.3(RAD51C):c.1045A>G (p.Thr349Ala)
|
rs1567818564
|
|
|
NM_058216.3(RAD51C):c.1128A>G (p.Leu376=)
|
rs545024029
|
|
|
NM_058216.3(RAD51C):c.146-4T>C
|
rs2143716945
|
|
|
NM_058216.3(RAD51C):c.32A>G (p.Gln11Arg)
|
rs730881937
|
|
|
NM_058216.3(RAD51C):c.335G>C (p.Gly112Ala)
|
rs370212314
|
|
|
NM_058216.3(RAD51C):c.404+13G>A
|
rs547506164
|
|
|
NM_058216.3(RAD51C):c.405-5G>A
|
rs1598459949
|
|
|
NM_058216.3(RAD51C):c.461A>G (p.Glu154Gly)
|
rs758847241
|
|
|
NM_058216.3(RAD51C):c.572-11del
|
rs587780258
|
|
|
NM_058216.3(RAD51C):c.606T>A (p.Asp202Glu)
|
rs2048270218
|
|
|
NM_058216.3(RAD51C):c.672_705+65dup
|
rs1555597214
|
|
|
NM_058216.3(RAD51C):c.838-5T>C
|
rs975635861
|
|
|
NM_058216.3(RAD51C):c.87T>C (p.Ser29=)
|
rs786203249
|
|
|
NM_058216.3(RAD51C):c.904+4G>A
|
|
|
|
NM_058216.3(RAD51C):c.905-5C>G
|
rs371968149
|
|
|
NM_080424.4(SP110):c.2029-7_2029-6del
|
rs773164340
|
|
|
NM_080424.4(SP110):c.829+15T>C
|
rs372230531
|
|
|
NM_080425.4(GNAS):c.1686C>T (p.Arg562=)
|
|
|
|
NM_080425.4(GNAS):c.657C>T (p.Pro219=)
|
rs752004692
|
|
|
NM_080680.3(COL11A2):c.1063C>T (p.Arg355Cys)
|
rs774410925
|
|
|
NM_080680.3(COL11A2):c.1180-4A>G
|
rs1554221961
|
|
|
NM_080680.3(COL11A2):c.1427C>T (p.Ala476Val)
|
rs373983482
|
|
|
NM_080680.3(COL11A2):c.1442C>T (p.Ala481Val)
|
|
|
|
NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln)
|
rs199866657
|
|
|
NM_080680.3(COL11A2):c.1637G>T (p.Arg546Leu)
|
|
|
|
NM_080680.3(COL11A2):c.2033C>A (p.Pro678Gln)
|
|
|
|
NM_080680.3(COL11A2):c.2065C>T (p.Pro689Ser)
|
rs766440021
|
|
|
NM_080680.3(COL11A2):c.2220G>T (p.Glu740Asp)
|
rs202032297
|
|
|
NM_080680.3(COL11A2):c.2529G>A (p.Thr843=)
|
|
|
|
NM_080680.3(COL11A2):c.2647G>A (p.Gly883Ser)
|
|
|
|
NM_080680.3(COL11A2):c.2843C>A (p.Pro948Gln)
|
|
|
|
NM_080680.3(COL11A2):c.2843C>T (p.Pro948Leu)
|
rs779187034
|
|
|
NM_080680.3(COL11A2):c.3343C>A (p.Pro1115Thr)
|
rs372806452
|
|
|
NM_080680.3(COL11A2):c.3554G>A (p.Arg1185Gln)
|
rs771004504
|
|
|
NM_080680.3(COL11A2):c.3554G>C (p.Arg1185Pro)
|
rs771004504
|
|
|
NM_080680.3(COL11A2):c.361C>T (p.Arg121Cys)
|
rs553025178
|
|
|
NM_080680.3(COL11A2):c.3622C>T (p.Pro1208Ser)
|
rs374515005
|
|
|
NM_080680.3(COL11A2):c.3698G>A (p.Arg1233His)
|
|
|
|
NM_080680.3(COL11A2):c.3749C>T (p.Pro1250Leu)
|
|
|
|
NM_080680.3(COL11A2):c.3830C>A (p.Pro1277His)
|
rs777156156
|
|
|
NM_080680.3(COL11A2):c.3830C>G (p.Pro1277Arg)
|
rs777156156
|
|
|
NM_080680.3(COL11A2):c.3906+7G>A
|
|
|
|
NM_080680.3(COL11A2):c.3961-7C>A
|
rs1361986900
|
|
|
NM_080680.3(COL11A2):c.3992G>A (p.Arg1331Gln)
|
rs146082418
|
|
|
NM_080680.3(COL11A2):c.4040C>T (p.Pro1347Leu)
|
rs142890313
|
|
|
NM_080680.3(COL11A2):c.4344C>G (p.Ile1448Met)
|
rs554269032
|
|
|
NM_080680.3(COL11A2):c.4395A>G (p.Gly1465=)
|
|
|
|
NM_080680.3(COL11A2):c.4767C>T (p.Asp1589=)
|
rs886044178
|
|
|
NM_080680.3(COL11A2):c.4786C>T (p.Arg1596Trp)
|
rs778962979
|
|
|
NM_080680.3(COL11A2):c.4933G>A (p.Val1645Ile)
|
rs556677734
|
|
|
NM_080680.3(COL11A2):c.939+8T>C
|
rs1554223902
|
|
|
NM_080911.3(UNG):c.204C>G (p.Ala68=)
|
rs777436497
|
|
|
NM_080911.3(UNG):c.435+15T>A
|
rs765672149
|
|
|
NM_080911.3(UNG):c.825G>A (p.Thr275=)
|
rs765151419
|
|
|
NM_080916.3(DGUOK):c.143-6T>C
|
|
|
|
NM_080916.3(DGUOK):c.176C>G (p.Thr59Arg)
|
rs144907403
|
|
|
NM_080916.3(DGUOK):c.8C>G (p.Ala3Gly)
|
rs781275867
|
|
|
NM_130466.4(UBE3B):c.1884A>G (p.Gln628=)
|
|
|
|
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del)
|
rs863224140
|
|
|
NM_130837.3(OPA1):c.1590T>A (p.Asn530Lys)
|
rs863224137
|
|
|
NM_130837.3(OPA1):c.1838A>C (p.Glu613Ala)
|
rs949979832
|
|
|
NM_130837.3(OPA1):c.1935+17C>T
|
|
|
|
NM_130837.3(OPA1):c.1996G>A (p.Val666Ile)
|
rs200756304
|
|
|
NM_130837.3(OPA1):c.2441-4C>G
|
rs763386320
|
|
|
NM_130837.3(OPA1):c.2873-10C>G
|
rs2109277041
|
|
|
NM_130837.3(OPA1):c.442G>A (p.Asp148Asn)
|
|
|
|
NM_130837.3(OPA1):c.581T>C (p.Ile194Thr)
|
|
|
|
NM_130837.3(OPA1):c.696C>T (p.Leu232=)
|
rs375209295
|
|
|
NM_130837.3(OPA1):c.712C>G (p.Gln238Glu)
|
rs1131691832
|
|
|
NM_130837.3(OPA1):c.785G>A (p.Arg262His)
|
rs201202646
|
|
|
NM_130839.5(UBE3A):c.1620C>T (p.Ile540=)
|
rs1057523671
|
|
|
NM_130839.5(UBE3A):c.2124+19T>G
|
rs587782925
|
|
|
NM_130839.5(UBE3A):c.2376T>C (p.His792=)
|
rs2152515457
|
|
|
NM_130839.5(UBE3A):c.62+20G>A
|
rs587782906
|
|
|
NM_130839.5(UBE3A):c.63-19_63-17del
|
rs587782921
|
|
|
NM_133259.4(LRPPRC):c.135C>T (p.Ala45=)
|
rs886056061
|
|
|
NM_133259.4(LRPPRC):c.1419T>C (p.Asp473=)
|
rs886056057
|
|
|
NM_133259.4(LRPPRC):c.346+9A>C
|
rs754438818
|
|
|
NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr)
|
rs200686732
|
|
|
NM_133259.4(LRPPRC):c.7G>T (p.Ala3Ser)
|
rs200686732
|
|
|
NM_133261.3(GIPC3):c.679G>T (p.Gly227Trp)
|
rs202075236
|
|
|
NM_133261.3(GIPC3):c.821C>T (p.Ala274Val)
|
rs149028750
|
|
|
NM_133261.3(GIPC3):c.855C>G (p.Ser285=)
|
rs766192644
|
|
|
NM_133378.4(TTN):c.37385_37387delAAG
|
rs759525338
|
|
|
NM_133379.5(TTN):c.10559C>T (p.Pro3520Leu)
|
rs189445085
|
|
|
NM_133379.5(TTN):c.12699T>C (p.Ala4233=)
|
rs185931752
|
|
|
NM_133379.5(TTN):c.15285_15317dup (p.5058TLERYSTPPGE[6])
|
rs397517815
|
|
|
NM_133379.5(TTN):c.15313C>A (p.Arg5105=)
|
rs376396183
|
|
|
NM_133433.4(NIPBL):c.1208C>T (p.Thr403Ile)
|
rs746183321
|
|
|
NM_133433.4(NIPBL):c.4321-15A>G
|
rs587783946
|
|
|
NM_133433.4(NIPBL):c.5863-31TA[11]
|
rs10554564
|
|
|
NM_133433.4(NIPBL):c.5979C>T (p.Asp1993=)
|
rs761030463
|
|
|
NM_133433.4(NIPBL):c.6108+7A>G
|
rs587783995
|
|
|
NM_133433.4(NIPBL):c.6322G>A (p.Ala2108Thr)
|
rs587784006
|
|
|
NM_133433.4(NIPBL):c.6402A>G (p.Leu2134=)
|
rs777430704
|
|
|
NM_133459.4(CCBE1):c.654+4C>G
|
rs770958531
|
|
|
NM_133459.4(CCBE1):c.654+5G>A
|
rs150596993
|
|
|
NM_133459.4(CCBE1):c.700A>G (p.Thr234Ala)
|
|
|
|
NM_133642.5(LARGE1):c.909T>G (p.Leu303=)
|
rs563144239
|
|
|
NM_138295.5(PKD1L1):c.2621G>A (p.Arg874Gln)
|
|
|
|
NM_138295.5(PKD1L1):c.3065C>T (p.Ala1022Val)
|
|
|
|
NM_138295.5(PKD1L1):c.3158G>A (p.Arg1053His)
|
rs10274334
|
|
|
NM_138295.5(PKD1L1):c.5598C>T (p.His1866=)
|
|
|
|
NM_138295.5(PKD1L1):c.603G>A (p.Ala201=)
|
|
|
|
NM_138295.5(PKD1L1):c.7279G>A (p.Val2427Met)
|
|
|
|
NM_138295.5(PKD1L1):c.8131C>T (p.Arg2711Trp)
|
|
|
|
NM_138387.4(G6PC3):c.417-14T>C
|
rs2050055854
|
|
|
NM_138395.4(MARS2):c.1122C>T (p.Leu374=)
|
|
|
|
NM_138409.4(MRAP2):c.289C>T (p.Pro97Ser)
|
|
|
|
NM_138422.4(ADAT3):c.761G>A (p.Arg254His)
|
rs556568423
|
|
|
NM_138477.4(CDAN1):c.3639T>C (p.Cys1213=)
|
|
|
|
NM_138576.4(BCL11B):c.1032C>G (p.Ala344=)
|
rs1011254015
|
|
|
NM_138576.4(BCL11B):c.1482C>T (p.Ala494=)
|
|
|
|
NM_138576.4(BCL11B):c.569C>T (p.Pro190Leu)
|
rs765692050
|
|
|
NM_138694.4(PKHD1):c.10251C>T (p.Ser3417=)
|
rs372394177
|
|
|
NM_138694.4(PKHD1):c.10536A>G (p.Glu3512=)
|
rs1581893486
|
|
|
NM_138694.4(PKHD1):c.10883C>T (p.Thr3628Ile)
|
rs147700643
|
|
|
NM_138694.4(PKHD1):c.11507-7G>A
|
rs373438297
|
|
|
NM_138694.4(PKHD1):c.11901G>A (p.Val3967=)
|
rs751385266
|
|
|
NM_138694.4(PKHD1):c.12147G>A (p.Glu4049=)
|
rs1561967407
|
|
|
NM_138694.4(PKHD1):c.1255G>A (p.Val419Ile)
|
rs138672830
|
|
|
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser)
|
rs141790557
|
|
|
NM_138694.4(PKHD1):c.208C>A (p.Pro70Thr)
|
rs781485593
|
|
|
NM_138694.4(PKHD1):c.2463C>G (p.Ala821=)
|
rs9474136
|
|
|
NM_138694.4(PKHD1):c.2463C>T (p.Ala821=)
|
rs9474136
|
|
|
NM_138694.4(PKHD1):c.281+13G>A
|
rs1812167147
|
|
|
NM_138694.4(PKHD1):c.3072G>A (p.Val1024=)
|
rs1581909859
|
|
|
NM_138694.4(PKHD1):c.3645C>T (p.Ser1215=)
|
rs1581815094
|
|
|
NM_138694.4(PKHD1):c.3828G>A (p.Arg1276=)
|
rs1373102999
|
|
|
NM_138694.4(PKHD1):c.402G>A (p.Ala134=)
|
rs200992930
|
|
|
NM_138694.4(PKHD1):c.4161G>C (p.Val1387=)
|
rs1802043497
|
|
|
NM_138694.4(PKHD1):c.4257G>A (p.Arg1419=)
|
rs577832997
|
|
|
NM_138694.4(PKHD1):c.449-6A>T
|
rs200204976
|
|
|
NM_138694.4(PKHD1):c.5133C>G (p.Ala1711=)
|
rs144841026
|
|
|
NM_138694.4(PKHD1):c.5133C>T (p.Ala1711=)
|
rs144841026
|
|
|
NM_138694.4(PKHD1):c.528-17dup
|
rs753686281
|
|
|
NM_138694.4(PKHD1):c.534G>A (p.Val178=)
|
rs1226545035
|
|
|
NM_138694.4(PKHD1):c.5478G>C (p.Ala1826=)
|
rs137925439
|
|
|
NM_138694.4(PKHD1):c.6149G>C (p.Cys2050Ser)
|
rs551783157
|
|
|
NM_138694.4(PKHD1):c.6641A>G (p.His2214Arg)
|
rs778124617
|
|
|
NM_138694.4(PKHD1):c.6756G>A (p.Leu2252=)
|
rs368194577
|
|
|
NM_138694.4(PKHD1):c.6924C>G (p.Ala2308=)
|
rs373795139
|
|
|
NM_138694.4(PKHD1):c.7173G>C (p.Leu2391=)
|
rs765985090
|
|
|
NM_138694.4(PKHD1):c.7635C>G (p.Thr2545=)
|
rs779757789
|
|
|
NM_138694.4(PKHD1):c.778+10C>G
|
rs1365502451
|
|
|
NM_138694.4(PKHD1):c.7866C>T (p.Thr2622=)
|
rs752563887
|
|
|
NM_138694.4(PKHD1):c.8174-18dup
|
rs566540835
|
|
|
NM_138694.4(PKHD1):c.888A>G (p.Pro296=)
|
rs76012218
|
|
|
NM_138694.4(PKHD1):c.904G>A (p.Val302Met)
|
rs779418460
|
|
|
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=)
|
rs745523374
|
|
|
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys)
|
rs759568939
|
|
|
NM_138704.4(NSMCE3):c.41A>C (p.Gln14Pro)
|
|
|
|
NM_138711.6(PPARG):c.43A>T (p.Ile15Phe)
|
|
|
|
NM_138715.3(MSR1):c.877C>T (p.Arg293Ter)
|
rs41341748
|
|
|
NM_138735.4(NRXN1):c.49GGC[11] (p.Gly17[11])
|
rs750165040
|
|
|
NM_138773.4(SLC25A46):c.938_940dup (p.Tyr313dup)
|
rs374899270
|
|
|
NM_138775.3(ALKBH8):c.604G>A (p.Asp202Asn)
|
|
|
|
NM_138927.4(SON):c.1106C>T (p.Ala369Val)
|
|
|
|
NM_138927.4(SON):c.1361C>G (p.Pro454Arg)
|
|
|
|
NM_138927.4(SON):c.2098T>C (p.Ser700Pro)
|
|
|
|
NM_138927.4(SON):c.2281A>G (p.Met761Val)
|
|
|
|
NM_138927.4(SON):c.3105AGCCTACGAGCGCTCTATGATGTC[1] (p.1036AYERSMMS[1])
|
rs746317953
|
|
|
NM_138927.4(SON):c.5943_5963del (p.1957SRTPSRR[5])
|
rs766784590
|
|
|
NM_138927.4(SON):c.78-9C>T
|
|
|
|
NM_139027.6(ADAMTS13):c.1109G>A (p.Arg370His)
|
|
|
|
NM_139027.6(ADAMTS13):c.3571C>T (p.Arg1191Trp)
|
|
|
|
NM_139058.3(ARX):c.1300GCC[4] (p.Ala438_Ala440del)
|
rs398124508
|
|
|
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup)
|
rs398124508
|
|
|
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup)
|
rs387906492
|
|
|
NM_139058.3(ARX):c.306GGC[12] (p.Ala114_Ala115dup)
|
rs387906492
|
|
|
NM_139058.3(ARX):c.306GGC[6] (p.Ala112_Ala115del)
|
rs387906492
|
|
|
NM_139058.3(ARX):c.306GGC[7] (p.Ala113_Ala115del)
|
rs387906492
|
|
|
NM_139058.3(ARX):c.441A>G (p.Ala147=)
|
rs797045301
|
|
|
NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del)
|
rs757588621
|
|
|
NM_139058.3(ARX):c.596C>G (p.Thr199Arg)
|
rs1268774120
|
|
|
NM_139058.3(ARX):c.651G>T (p.Ala217=)
|
rs587783204
|
|
|
NM_139076.3(ABRAXAS1):c.364C>G (p.Gln122Glu)
|
rs137876115
|
|
|
NM_139076.3(ABRAXAS1):c.7G>C (p.Gly3Arg)
|
rs370520589
|
|
|
NM_139076.3(ABRAXAS1):c.826_828del (p.Glu276del)
|
rs748475674
|
|
|
NM_139076.3(ABRAXAS1):c.88-7T>C
|
|
|
|
NM_139215.3(TAF15):c.1269_1295dup (p.Gly424_Ser432dup)
|
rs1440860624
|
|
|
NM_139242.4(MTFMT):c.1129A>C (p.Lys377Gln)
|
rs34507711
|
|
|
NM_139242.4(MTFMT):c.9G>A (p.Val3=)
|
|
|
|
NM_139319.3(SLC17A8):c.1426-18C>A
|
|
|
|
NM_139319.3(SLC17A8):c.1631AGA[1] (p.Lys545del)
|
rs141689561
|
|
|
NM_139343.3(BIN1):c.1264-11_1270del
|
rs776737413
|
|
|
NM_139343.3(BIN1):c.1395G>C (p.Ala465=)
|
rs765870974
|
|
|
NM_139343.3(BIN1):c.1515C>G (p.Thr505=)
|
rs375583449
|
|
|
NM_139343.3(BIN1):c.168G>A (p.Thr56=)
|
rs528828320
|
|
|
NM_144508.5(KNL1):c.2425_2427del (p.Gly809del)
|
rs761320880
|
|
|
NM_144573.4(NEXN):c.*4CT[1]
|
rs553696163
|
|
|
NM_144573.4(NEXN):c.1416AAG[1] (p.Arg475del)
|
rs794729091
|
|
|
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del)
|
rs764505909
|
|
|
NM_144573.4(NEXN):c.1671GGA[2] (p.Glu561_Glu562del)
|
rs397517848
|
|
|
NM_144573.4(NEXN):c.1671GGA[3] (p.Glu562del)
|
rs397517848
|
|
|
NM_144573.4(NEXN):c.989AAG[2] (p.Glu332del)
|
rs727505124
|
|
|
NM_144639.3(UROC1):c.709G>C (p.Glu237Gln)
|
rs150437149
|
|
|
NM_144666.3(DNHD1):c.4041C>A (p.Ser1347Arg)
|
rs189772244
|
|
|
NM_144670.6(A2ML1):c.137G>A (p.Gly46Glu)
|
rs757200771
|
|
|
NM_144670.6(A2ML1):c.1394G>A (p.Gly465Asp)
|
rs757576013
|
|
|
NM_144670.6(A2ML1):c.1769C>T (p.Ala590Val)
|
rs770246364
|
|
|
NM_144670.6(A2ML1):c.1775G>T (p.Arg592Leu)
|
rs200673370
|
|
|
NM_144670.6(A2ML1):c.2145del (p.Phe715fs)
|
rs759217676
|
|
|
NM_144670.6(A2ML1):c.3108-11T>C
|
|
|
|
NM_144670.6(A2ML1):c.4061+16G>A
|
rs200962359
|
|
|
NM_144670.6(A2ML1):c.63-6del
|
rs1463624612
|
|
|
NM_144672.4(OTOA):c.57A>T (p.Gly19=)
|
rs749912295
|
|
|
NM_144687.4(NLRP12):c.2046A>G (p.Ala682=)
|
rs886054608
|
|
|
NM_144687.4(NLRP12):c.2072+2dup
|
rs104895565
|
|
|
NM_144687.4(NLRP12):c.2754G>A (p.Leu918=)
|
rs61741347
|
|
|
NM_144687.4(NLRP12):c.2830C>A (p.Arg944=)
|
rs104895570
|
|
|
NM_144687.4(NLRP12):c.2927+4_2927+5dup
|
rs763190690
|
|
|
NM_144687.4(NLRP12):c.3088C>G (p.Arg1030Gly)
|
rs201619538
|
|
|
NM_144773.4(PROKR2):c.1069C>T (p.Arg357Trp)
|
|
|
|
NM_144773.4(PROKR2):c.472G>A (p.Val158Ile)
|
|
|
|
NM_144997.7(FLCN):c.1198G>T (p.Val400Phe)
|
rs148257120
|
|
|
NM_144997.7(FLCN):c.1451A>G (p.Asn484Ser)
|
rs1010980331
|
|
|
NM_144997.7(FLCN):c.1482C>T (p.Asn494=)
|
rs1597578831
|
|
|
NM_144997.7(FLCN):c.250-7T>C
|
rs748857550
|
|
|
NM_144997.7(FLCN):c.779+6G>A
|
rs778530618
|
|
|
NM_144997.7(FLCN):c.871+22C>T
|
|
|
|
NM_145239.3(PRRT2):c.623C>A (p.Ser208Tyr)
|
rs201409113
|
|
|
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu)
|
rs76335820
|
|
|
NM_145262.4(GLYCTK):c.1397C>T (p.Thr466Ile)
|
|
|
|
NM_145868.2(ANXA11):c.738C>T (p.Tyr246=)
|
|
|
|
NM_147127.5(EVC2):c.1711-11_1711-10dup
|
rs35103377
|
|
|
NM_147196.3(TMIE):c.367AAG[6] (p.Lys129_Lys131del)
|
rs10578999
|
|
|
NM_148897.3(SDR9C7):c.718C>T (p.Arg240Cys)
|
|
|
|
NM_152296.5(ATP1A3):c.1011C>T (p.Thr337=)
|
rs782312004
|
|
|
NM_152296.5(ATP1A3):c.15A>G (p.Lys5=)
|
rs886054476
|
|
|
NM_152296.5(ATP1A3):c.2543-6T>A
|
rs1599705282
|
|
|
NM_152296.5(ATP1A3):c.270C>T (p.Phe90=)
|
rs782539594
|
|
|
NM_152383.5(DIS3L2):c.1836G>A (p.Pro612=)
|
rs202227137
|
|
|
NM_152383.5(DIS3L2):c.2395-13G>T
|
rs374738789
|
|
|
NM_152383.5(DIS3L2):c.2497-14T>C
|
rs1283433476
|
|
|
NM_152383.5(DIS3L2):c.780A>G (p.Glu260=)
|
rs2106355380
|
|
|
NM_152383.5(DIS3L2):c.951-8A>G
|
rs886055770
|
|
|
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln)
|
rs727503962
|
|
|
NM_152424.4(AMER1):c.205C>A (p.Leu69Met)
|
|
|
|
NM_152564.5(VPS13B):c.10011C>G (p.Ile3337Met)
|
rs542986432
|
|
|
NM_152564.5(VPS13B):c.10065G>A (p.Ala3355=)
|
rs61753726
|
|
|
NM_152564.5(VPS13B):c.10129C>T (p.Leu3377Phe)
|
rs535553836
|
|
|
NM_152564.5(VPS13B):c.10938C>T (p.Val3646=)
|
rs758028194
|
|
|
NM_152564.5(VPS13B):c.11244G>A (p.Pro3748=)
|
rs375229257
|
|
|
NM_152564.5(VPS13B):c.11244G>C (p.Pro3748=)
|
rs375229257
|
|
|
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup)
|
rs386834068
|
|
|
NM_152564.5(VPS13B):c.1371T>G (p.Leu457=)
|
rs1810005490
|
|
|
NM_152564.5(VPS13B):c.2048A>T (p.Gln683Leu)
|
rs372585253
|
|
|
NM_152564.5(VPS13B):c.2433A>T (p.Ile811=)
|
rs540795071
|
|
|
NM_152564.5(VPS13B):c.3445+7_3445+9dup
|
rs1335342521
|
|
|
NM_152564.5(VPS13B):c.3742C>G (p.Leu1248Val)
|
rs562686924
|
|
|
NM_152564.5(VPS13B):c.4224+556A>G
|
rs1554824890
|
|
|
NM_152564.5(VPS13B):c.4746-13G>A
|
rs561446691
|
|
|
NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser)
|
rs563705133
|
|
|
NM_152564.5(VPS13B):c.5502G>T (p.Ser1834=)
|
rs143115716
|
|
|
NM_152564.5(VPS13B):c.5528A>T (p.Glu1843Val)
|
rs141211386
|
|
|
NM_152564.5(VPS13B):c.5741G>A (p.Arg1914Gln)
|
rs150272676
|
|
|
NM_152564.5(VPS13B):c.5908+14A>C
|
rs886062543
|
|
|
NM_152564.5(VPS13B):c.6672A>G (p.Gln2224=)
|
rs2130339813
|
|
|
NM_152564.5(VPS13B):c.7461C>T (p.Ser2487=)
|
rs751190453
|
|
|
NM_152564.5(VPS13B):c.874T>G (p.Phe292Val)
|
rs779095081
|
|
|
NM_152618.3(BBS12):c.977CTT[2] (p.Ser328del)
|
rs779801356
|
|
|
NM_152703.5(SAMD9L):c.1524A>G (p.Thr508=)
|
rs1248188387
|
|
|
NM_152703.5(SAMD9L):c.2037T>G (p.Phe679Leu)
|
rs188902048
|
|
|
NM_152703.5(SAMD9L):c.2608G>A (p.Gly870Ser)
|
|
|
|
NM_152703.5(SAMD9L):c.4718T>A (p.Ile1573Asn)
|
rs371764964
|
|
|
NM_152722.5(HEPACAM):c.115C>T (p.Pro39Ser)
|
|
|
|
NM_152722.5(HEPACAM):c.1166G>A (p.Arg389His)
|
|
|
|
NM_152750.5(CDHR3):c.2392G>T (p.Ala798Ser)
|
rs140818720
|
|
|
NM_152906.7(TANGO2):c.57-3C>T
|
rs750814833
|
|
|
NM_152906.7(TANGO2):c.710+143G>C
|
|
|
|
NM_153006.3(NAGS):c.630C>T (p.Asn210=)
|
rs2049080644
|
|
|
NM_153006.3(NAGS):c.681C>G (p.Ala227=)
|
rs886052982
|
|
|
NM_153006.3(NAGS):c.807C>T (p.Ser269=)
|
rs767368629
|
|
|
NM_153033.5(KCTD7):c.291C>T (p.Ile97=)
|
rs769023482
|
|
|
NM_153240.5(NPHP3):c.1525-5del
|
rs762115717
|
|
|
NM_153240.5(NPHP3):c.171C>A (p.Pro57=)
|
rs778581370
|
|
|
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr)
|
rs139730838
|
|
|
NM_153240.5(NPHP3):c.3697-14dup
|
rs564013823
|
|
|
NM_153460.4(IL17RC):c.274G>A (p.Val92Met)
|
rs143412184
|
|
|
NM_153603.4(COG7):c.1005C>T (p.His335=)
|
rs532636981
|
|
|
NM_153603.4(COG7):c.1305T>C (p.Asp435=)
|
rs1019861391
|
|
|
NM_153638.4(PANK2):c.54A>G (p.Ser18=)
|
rs886056650
|
|
|
NM_153676.4(USH1C):c.1801C>A (p.Pro601Thr)
|
rs727503710
|
|
|
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg)
|
rs41282932
|
|
|
NM_153676.4(USH1C):c.1831G>T (p.Val611Phe)
|
rs560416690
|
|
|
NM_153676.4(USH1C):c.2226+3A>G
|
|
|
|
NM_153717.3(EVC):c.1940G>A (p.Arg647Gln)
|
rs35401386
|
|
|
NM_153809.2(TAF1L):c.3797C>G (p.Pro1266Arg)
|
|
|
|
NM_153816.6(SNX14):c.1075G>T (p.Ala359Ser)
|
rs146849758
|
|
|
NM_153816.6(SNX14):c.1710A>G (p.Pro570=)
|
|
|
|
NM_170606.3(KMT2C):c.11225G>C (p.Ser3742Thr)
|
|
|
|
NM_170606.3(KMT2C):c.12151A>G (p.Arg4051Gly)
|
|
|
|
NM_170606.3(KMT2C):c.1402C>G (p.Pro468Ala)
|
rs140919432
|
|
|
NM_170606.3(KMT2C):c.2662T>A (p.Ser888Thr)
|
|
|
|
NM_170606.3(KMT2C):c.3283A>G (p.Arg1095Gly)
|
rs760716705
|
|
|
NM_170606.3(KMT2C):c.7133C>G (p.Thr2378Arg)
|
|
|
|
NM_170606.3(KMT2C):c.7388G>A (p.Arg2463His)
|
|
|
|
NM_170606.3(KMT2C):c.9109_9111del (p.Leu3037del)
|
rs772433974
|
|
|
NM_170699.3(GPBAR1):c.975C>A (p.Val325=)
|
rs202200326
|
|
|
NM_170699.3(GPBAR1):c.975C>T (p.Val325=)
|
rs202200326
|
|
|
NM_170707.4(LMNA):c.1122C>T (p.His374=)
|
rs143715750
|
|
|
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)
|
rs41314035
|
|
|
NM_170707.4(LMNA):c.1599C>T (p.Ser533=)
|
rs886043346
|
|
|
NM_170707.4(LMNA):c.1749G>A (p.Ser583=)
|
rs970494454
|
|
|
NM_170707.4(LMNA):c.1827A>T (p.Gly609=)
|
rs1558135172
|
|
|
NM_170707.4(LMNA):c.346C>T (p.Leu116=)
|
rs876657491
|
|
|
NM_170707.4(LMNA):c.483G>A (p.Glu161=)
|
rs1553264647
|
|
|
NM_170707.4(LMNA):c.897C>T (p.Ile299=)
|
rs762718963
|
|
|
NM_170707.4(LMNA):c.937-8C>G
|
rs751707982
|
|
|
NM_170754.4(TNS2):c.1213G>A (p.Glu405Lys)
|
|
|
|
NM_170754.4(TNS2):c.275C>T (p.Ala92Val)
|
|
|
|
NM_172107.4(KCNQ2):c.1503C>T (p.Ala501=)
|
rs1801545
|
|
|
NM_172107.4(KCNQ2):c.1545G>T (p.Glu515Asp)
|
rs117067974
|
|
|
NM_172107.4(KCNQ2):c.1955C>T (p.Pro652Leu)
|
rs770730662
|
|
|
NM_172107.4(KCNQ2):c.388-9C>G
|
rs371784719
|
|
|
NM_172201.2(KCNE2):c.*11A>C
|
rs558860396
|
|
|
NM_172250.3(MMAA):c.269A>T (p.Tyr90Phe)
|
rs148404005
|
|
|
NM_172362.3(KCNH1):c.2414C>T (p.Thr805Ile)
|
|
|
|
NM_172362.3(KCNH1):c.2500C>T (p.Arg834Cys)
|
rs1363207852
|
|
|
NM_172362.3(KCNH1):c.2962G>T (p.Ala988Ser)
|
rs371262198
|
|
|
NM_172364.5(CACNA2D4):c.2046C>T (p.Ala682=)
|
rs116214586
|
|
|
NM_173076.3(ABCA12):c.2638G>C (p.Val880Leu)
|
rs146002078
|
|
|
NM_173076.3(ABCA12):c.746T>C (p.Met249Thr)
|
|
|
|
NM_173354.5(SIK1):c.1463G>A (p.Cys488Tyr)
|
rs769962713
|
|
|
NM_173354.5(SIK1):c.1538C>T (p.Ala513Val)
|
rs200402559
|
|
|
NM_173354.5(SIK1):c.468G>A (p.Leu156=)
|
rs2081056659
|
|
|
NM_173477.5(USH1G):c.717G>C (p.Lys239Asn)
|
rs544952984
|
|
|
NM_173500.4(TTBK2):c.3081A>G (p.Thr1027=)
|
rs911630565
|
|
|
NM_173630.4(RTTN):c.2821G>C (p.Val941Leu)
|
|
|
|
NM_173630.4(RTTN):c.3714A>G (p.Gln1238=)
|
|
|
|
NM_173630.4(RTTN):c.376T>A (p.Ser126Thr)
|
rs3911730
|
|
|
NM_173630.4(RTTN):c.578+4C>T
|
|
|
|
NM_173630.4(RTTN):c.6153+4C>T
|
|
|
|
NM_173651.4(FSIP2):c.11144C>T (p.Thr3715Met)
|
|
|
|
NM_173660.5(DOK7):c.1305C>A (p.Gly435=)
|
rs201894731
|
|
|
NM_173660.5(DOK7):c.1313C>G (p.Thr438Arg)
|
rs376805794
|
|
|
NM_173660.5(DOK7):c.918C>T (p.Ala306=)
|
rs141947707
|
|
|
NM_173689.7(CRB2):c.1829G>T (p.Arg610Leu)
|
rs144365725
|
|
|
NM_173689.7(CRB2):c.3373G>T (p.Gly1125Trp)
|
rs543547663
|
|
|
NM_173689.7(CRB2):c.3699CCT[7] (p.Leu1239dup)
|
rs767432277
|
|
|
NM_173689.7(CRB2):c.471C>G (p.His157Gln)
|
rs113157023
|
|
|
NM_173689.7(CRB2):c.883G>A (p.Ala295Thr)
|
rs74778545
|
|
|
NM_174878.3(CLRN1):c.*277GT[16]
|
rs34027634
|
|
|
NM_174889.5(NDUFAF2):c.491del (p.Gly164fs)
|
rs753595274
|
|
|
NM_174916.3(UBR1):c.2190+20T>C
|
rs2141316539
|
|
|
NM_174916.3(UBR1):c.3998-7_3998-5del
|
|
|
|
NM_174916.3(UBR1):c.752G>T (p.Cys251Phe)
|
|
|
|
NM_174934.4(SCN4B):c.632C>G (p.Thr211Arg)
|
rs201454653
|
|
|
NM_174936.4(PCSK9):c.1099G>C (p.Asp367His)
|
rs141867978
|
|
|
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
|
|
|
|
NM_174936.4(PCSK9):c.1658A>G (p.His553Arg)
|
|
|
|
NM_174936.4(PCSK9):c.1660C>G (p.Gln554Glu)
|
|
|
|
NM_174936.4(PCSK9):c.212C>T (p.Pro71Leu)
|
rs569379713
|
|
|
NM_174936.4(PCSK9):c.266C>G (p.Ser89Trp)
|
rs771978846
|
|
|
NM_174936.4(PCSK9):c.45GCT[10] (p.Leu21_Leu23dup)
|
rs35574083
|
|
|
NM_174936.4(PCSK9):c.45GCT[6] (p.Leu23del)
|
|
|
|
NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup)
|
rs35574083
|
|
|
NM_174936.4(PCSK9):c.522C>T (p.Pro174=)
|
rs373018373
|
|
|
NM_175737.4(KLB):c.2329_2331del (p.Phe777del)
|
rs549659598
|
|
|
NM_175875.5(SIX5):c.1666C>A (p.Leu556Met)
|
rs2014377
|
|
|
NM_175875.5(SIX5):c.1872C>T (p.Pro624=)
|
rs373614429
|
|
|
NM_175875.5(SIX5):c.1943C>T (p.Pro648Leu)
|
rs140816771
|
|
|
NM_175875.5(SIX5):c.246G>A (p.Thr82=)
|
|
|
|
NM_175914.5(HNF4A):c.*1291TCCTCCCT[1]
|
rs3834658
|
|
|
NM_175914.5(HNF4A):c.224+17dup
|
rs371937621
|
|
|
NM_177402.5(SYT2):c.1238C>T (p.Ala413Val)
|
|
|
|
NM_177438.3(DICER1):c.1080A>G (p.Glu360=)
|
rs886050943
|
|
|
NM_177438.3(DICER1):c.1089C>T (p.Phe363=)
|
rs878855239
|
|
|
NM_177438.3(DICER1):c.1140G>C (p.Leu380=)
|
rs745464699
|
|
|
NM_177438.3(DICER1):c.159A>G (p.Glu53=)
|
rs2140289208
|
|
|
NM_177438.3(DICER1):c.1907+3A>T
|
rs759764582
|
|
|
NM_177438.3(DICER1):c.2040+54dup
|
rs141723381
|
|
|
NM_177438.3(DICER1):c.2191G>A (p.Glu731Lys)
|
rs869025262
|
|
|
NM_177438.3(DICER1):c.2651-14T>G
|
rs753857234
|
|
|
NM_177438.3(DICER1):c.2916T>C (p.Tyr972=)
|
rs1488644936
|
|
|
NM_177438.3(DICER1):c.3546A>G (p.Gln1182=)
|
rs1566768449
|
|
|
NM_177438.3(DICER1):c.3690G>A (p.Gln1230=)
|
rs1555369473
|
|
|
NM_177438.3(DICER1):c.4254GGA[2] (p.Glu1420del)
|
rs544960260
|
|
|
NM_177438.3(DICER1):c.4506C>T (p.Asp1502=)
|
rs1595341062
|
|
|
NM_177438.3(DICER1):c.4795C>T (p.Arg1599Trp)
|
rs587778230
|
|
|
NM_177438.3(DICER1):c.4806C>T (p.Ala1602=)
|
rs1890302137
|
|
|
NM_177438.3(DICER1):c.4874C>A (p.Ser1625Tyr)
|
rs864622653
|
|
|
NM_177438.3(DICER1):c.904-5del
|
rs769549511
|
|
|
NM_177924.5(ASAH1):c.126-7A>G
|
rs771021569
|
|
|
NM_177972.3(TUB):c.367G>A (p.Ala123Thr)
|
|
|
|
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg)
|
rs145844329
|
|
|
NM_178335.3(CCDC50):c.1231C>T (p.Pro411Ser)
|
rs138707536
|
|
|
NM_178335.3(CCDC50):c.33G>A (p.Leu11=)
|
|
|
|
NM_178452.6(DNAAF1):c.1780G>A (p.Val594Met)
|
|
|
|
NM_178452.6(DNAAF1):c.491G>A (p.Arg164His)
|
|
|
|
NM_178822.5(IGSF10):c.2360C>T (p.Pro787Leu)
|
|
|
|
NM_178822.5(IGSF10):c.4468G>A (p.Val1490Met)
|
|
|
|
NM_178822.5(IGSF10):c.6006T>G (p.Phe2002Leu)
|
|
|
|
NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly)
|
rs4240659
|
|
|
NM_178857.6(RP1L1):c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu)
|
rs1585963467
|
|
|
NM_178859.4(SLC51B):c.199A>G (p.Met67Val)
|
|
|
|
NM_181303.2(NLGN3):c.2331C>T (p.Ala777=)
|
rs759656254
|
|
|
NM_181426.2(CCDC39):c.654T>C (p.Asn218=)
|
rs886058199
|
|
|
NM_182641.4(BPTF):c.429GGA[8] (p.Glu148_Asp149insGluGlu)
|
|
|
|
NM_182641.4(BPTF):c.4384A>G (p.Ile1462Val)
|
|
|
|
NM_182641.4(BPTF):c.4887_4889del (p.Thr1631del)
|
|
|
|
NM_182641.4(BPTF):c.7111A>G (p.Thr2371Ala)
|
|
|
|
NM_182641.4(BPTF):c.81GCC[6] (p.Pro31_Thr32insProPro)
|
|
|
|
NM_182643.3(DLC1):c.4466+4T>A
|
|
|
|
NM_182643.3(DLC1):c.769T>A (p.Phe257Ile)
|
|
|
|
NM_182760.4(SUMF1):c.16C>T (p.Leu6=)
|
rs774160105
|
|
|
NM_182760.4(SUMF1):c.177C>T (p.Gly59=)
|
rs774739457
|
|
|
NM_182760.4(SUMF1):c.28T>C (p.Cys10Arg)
|
rs776028375
|
|
|
NM_182760.4(SUMF1):c.955-6C>G
|
rs886058518
|
|
|
NM_182894.3(VSX2):c.760+11G>A
|
rs777886580
|
|
|
NM_182894.3(VSX2):c.777G>T (p.Ser259=)
|
rs371707151
|
|
|
NM_182894.3(VSX2):c.810C>G (p.Pro270=)
|
rs759166720
|
|
|
NM_182914.3(SYNE2):c.12109-10_12109-7del
|
rs755277543
|
|
|
NM_182914.3(SYNE2):c.16328AAG[1] (p.Glu5444del)
|
rs751691446
|
|
|
NM_182914.3(SYNE2):c.17784G>A (p.Glu5928=)
|
rs572217007
|
|
|
NM_182914.3(SYNE2):c.18190G>A (p.Ala6064Thr)
|
rs182079744
|
|
|
NM_182914.3(SYNE2):c.19275G>T (p.Val6425=)
|
rs772092387
|
|
|
NM_182914.3(SYNE2):c.19441G>C (p.Asp6481His)
|
rs202052357
|
|
|
NM_182914.3(SYNE2):c.20033G>C (p.Gly6678Ala)
|
rs140676416
|
|
|
NM_182914.3(SYNE2):c.2498C>G (p.Ala833Gly)
|
rs200503488
|
|
|
NM_182914.3(SYNE2):c.2665A>G (p.Asn889Asp)
|
rs370800852
|
|
|
NM_182914.3(SYNE2):c.4398-11T>A
|
rs2096801796
|
|
|
NM_182919.4(TICAM1):c.11_12inv (p.Thr4Met)
|
|
|
|
NM_182920.2(ADAMTS9):c.4018-7T>C
|
rs775202077
|
|
|
NM_182920.2(ADAMTS9):c.4811G>A (p.Arg1604His)
|
|
|
|
NM_182925.5(FLT4):c.3023C>T (p.Pro1008Leu)
|
rs149033942
|
|
|
NM_182931.3(KMT2E):c.142A>G (p.Ser48Gly)
|
|
|
|
NM_182931.3(KMT2E):c.2701A>T (p.Thr901Ser)
|
|
|
|
NM_182931.3(KMT2E):c.4222A>C (p.Asn1408His)
|
|
|
|
NM_182931.3(KMT2E):c.5153C>T (p.Pro1718Leu)
|
rs1799386566
|
|
|
NM_182931.3(KMT2E):c.5555dup (p.Tyr1852Ter)
|
|
|
|
NM_182943.3(PLOD2):c.2122-8T>A
|
|
|
|
NM_182943.3(PLOD2):c.306T>A (p.Asp102Glu)
|
rs764056697
|
|
|
NM_182961.3(SYNE1):c.23146-7dup
|
rs770820426
|
|
|
NM_182961.4(SYNE1):c.10503A>G (p.Leu3501=)
|
rs1563330296
|
|
|
NM_182961.4(SYNE1):c.1062C>T (p.Phe354=)
|
rs1057523855
|
|
|
NM_182961.4(SYNE1):c.10869C>T (p.Pro3623=)
|
rs1554523565
|
|
|
NM_182961.4(SYNE1):c.11030G>A (p.Cys3677Tyr)
|
rs148028681
|
|
|
NM_182961.4(SYNE1):c.11089A>G (p.Ile3697Val)
|
|
|
|
NM_182961.4(SYNE1):c.12585G>A (p.Lys4195=)
|
rs149536991
|
|
|
NM_182961.4(SYNE1):c.12607_12609delinsAAA (p.Glu4203Lys)
|
rs2096322019
|
|
|
NM_182961.4(SYNE1):c.1290C>T (p.Thr430=)
|
rs755709525
|
|
|
NM_182961.4(SYNE1):c.14106C>T (p.Thr4702=)
|
rs146180064
|
|
|
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys)
|
rs145899734
|
|
|
NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg)
|
rs150376715
|
|
|
NM_182961.4(SYNE1):c.21639G>A (p.Leu7213=)
|
rs886043685
|
|
|
NM_182961.4(SYNE1):c.21768G>A (p.Gln7256=)
|
rs1554226552
|
|
|
NM_182961.4(SYNE1):c.23791-6del
|
rs757124573
|
|
|
NM_182961.4(SYNE1):c.24723C>T (p.His8241=)
|
rs141586001
|
|
|
NM_182961.4(SYNE1):c.393A>C (p.Leu131=)
|
rs139291592
|
|
|
NM_182961.4(SYNE1):c.4889C>G (p.Ala1630Gly)
|
rs566004273
|
|
|
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=)
|
rs146789107
|
|
|
NM_182961.4(SYNE1):c.581+10A>G
|
rs771573516
|
|
|
NM_182961.4(SYNE1):c.5877A>G (p.Val1959=)
|
rs1057522688
|
|
|
NM_182961.4(SYNE1):c.7713-5T>C
|
rs893217390
|
|
|
NM_182961.4(SYNE1):c.779-4dup
|
rs567435072
|
|
|
NM_182961.4(SYNE1):c.8310C>T (p.Phe2770=)
|
rs749172868
|
|
|
NM_182961.4(SYNE1):c.9375G>C (p.Leu3125=)
|
rs376622495
|
|
|
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu)
|
rs149901087
|
|
|
NM_182961.4(SYNE1):c.9897G>A (p.Ala3299=)
|
rs184006845
|
|
|
NM_182961.4(SYNE1):c.9904A>G (p.Met3302Val)
|
rs1171056771
|
|
|
NM_182972.3(IRF2BP2):c.864C>T (p.Gly288=)
|
rs768782125
|
|
|
NM_182978.4(GNAL):c.266_283dup (p.Ala89_Ala94dup)
|
rs750891634
|
|
|
NM_183050.4(BCKDHB):c.51A>C (p.Ala17=)
|
rs376293687
|
|
|
NM_183050.4(BCKDHB):c.51A>G (p.Ala17=)
|
rs376293687
|
|
|
NM_183065.4(TMEM107):c.*633C>T
|
|
|
|
NM_183065.4(TMEM107):c.*651C>G
|
rs78363053
|
|
|
NM_183065.4(TMEM107):c.*656G>A
|
rs148909909
|
|
|
NM_183075.3(CYP2U1):c.5C>T (p.Ser2Leu)
|
rs550088634
|
|
|
NM_183075.3(CYP2U1):c.869T>C (p.Ile290Thr)
|
rs761095930
|
|
|
NM_183357.3(ADCY5):c.2272GAC[1] (p.Asp759del)
|
rs780518999
|
|
|
NM_183357.3(ADCY5):c.2890G>T (p.Ala964Ser)
|
|
|
|
NM_183357.3(ADCY5):c.30G>A (p.Pro10=)
|
|
|
|
NM_183357.3(ADCY5):c.982G>A (p.Gly328Ser)
|
rs749154761
|
|
|
NM_194248.3(OTOF):c.1553G>T (p.Arg518Leu)
|
rs150090360
|
|
|
NM_194248.3(OTOF):c.2436G>A (p.Leu812=)
|
rs2148051340
|
|
|
NM_194248.3(OTOF):c.2457C>T (p.His819=)
|
|
|
|
NM_194248.3(OTOF):c.2765G>T (p.Arg922Leu)
|
|
|
|
NM_194248.3(OTOF):c.3720C>T (p.Ser1240=)
|
|
|
|
NM_194248.3(OTOF):c.4417G>A (p.Gly1473Ser)
|
|
|
|
NM_194248.3(OTOF):c.481C>T (p.Arg161Trp)
|
rs377378925
|
|
|
NM_194248.3(OTOF):c.5193-3del
|
|
|
|
NM_194248.3(OTOF):c.5475C>A (p.Pro1825=)
|
rs760178516
|
|
|
NM_194248.3(OTOF):c.5479C>A (p.Arg1827=)
|
rs142748621
|
|
|
NM_194248.3(OTOF):c.5479C>T (p.Arg1827Trp)
|
rs142748621
|
|
|
NM_194454.3(KRIT1):c.1377A>G (p.Gln459=)
|
|
|
|
NM_194454.3(KRIT1):c.845+10C>G
|
rs372125478
|
|
|
NM_198075.4(LRRC56):c.591G>A (p.Val197=)
|
|
|
|
NM_198129.4(LAMA3):c.8708+4G>A
|
rs200417639
|
|
|
NM_198252.3(GSN):c.-9-2079_-9-2035del
|
rs1275798438
|
|
|
NM_198252.3(GSN):c.885A>G (p.Lys295=)
|
|
|
|
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del)
|
rs377639087
|
|
|
NM_198271.5(LMOD3):c.788T>C (p.Ile263Thr)
|
rs9835034
|
|
|
NM_198334.3(GANAB):c.1259A>G (p.Asn420Ser)
|
rs146956329
|
|
|
NM_198334.3(GANAB):c.253-4G>T
|
rs202154028
|
|
|
NM_198334.3(GANAB):c.367C>G (p.Pro123Ala)
|
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NM_198506.5(LRIT3):c.1752_1754del (p.Leu585del)
|
rs145776307
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NM_198525.3(KIF7):c.2059C>A (p.Arg687=)
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rs138736028
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NM_198525.3(KIF7):c.2079C>A (p.Val693=)
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rs113112856
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NM_198525.3(KIF7):c.2079C>T (p.Val693=)
|
rs113112856
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NM_198525.3(KIF7):c.2337G>A (p.Glu779=)
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rs202089770
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NM_198525.3(KIF7):c.2421G>A (p.Thr807=)
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rs141497185
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NM_198525.3(KIF7):c.2549G>T (p.Arg850Leu)
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rs141514601
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NM_198525.3(KIF7):c.3319-13G>A
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rs371154050
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NM_198525.3(KIF7):c.3519C>T (p.Asp1173=)
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rs778389919
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NM_198525.3(KIF7):c.418C>T (p.Leu140=)
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rs756117745
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NM_198525.3(KIF7):c.960G>A (p.Thr320=)
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rs886051538
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NM_198576.4(AGRN):c.4021G>A (p.Gly1341Arg)
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rs372543866
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NM_198576.4(AGRN):c.4779_4793del (p.Gln1593_Cys1597del)
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rs769494139
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NM_198578.4(LRRK2):c.4883G>A (p.Arg1628His)
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rs33949390
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NM_198578.4(LRRK2):c.5713G>C (p.Val1905Leu)
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rs754436306
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NM_198578.4(LRRK2):c.606C>T (p.Asn202=)
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rs199854074
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NM_198578.4(LRRK2):c.7296C>G (p.Gly2432=)
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rs199964631
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NM_198586.3(NHLRC1):c.195C>A (p.Ala65=)
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rs370573413
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NM_198681.4(PLEKHG5):c.-120C>T
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rs201669114
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NM_198834.3(ACACA):c.472-3C>T
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NM_198904.4(GABRG2):c.107+6A>G
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rs868452487
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NM_198904.4(GABRG2):c.1113_1115del (p.Lys374del)
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rs727503941
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NM_198904.4(GABRG2):c.1425G>A (p.Leu475=)
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rs886060383
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NM_198904.4(GABRG2):c.402C>G (p.Val134=)
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rs562384157
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NM_198994.3(TGM6):c.1430_1431delinsTCTCTGGCGTGACGACCTCCTGGA (p.Gly477fs)
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rs2122409537
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NM_198994.3(TGM6):c.1431G>A (p.Gly477=)
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rs373549904
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NM_198994.3(TGM6):c.1678+9A>T
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NM_199242.3(UNC13D):c.147C>G (p.Pro49=)
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rs749672259
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NM_199242.3(UNC13D):c.147C>T (p.Pro49=)
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rs749672259
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NM_199242.3(UNC13D):c.1758C>T (p.His586=)
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rs759891490
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NM_199242.3(UNC13D):c.2136C>G (p.Ile712Met)
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rs112245411
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NM_199242.3(UNC13D):c.2896C>T (p.Arg966Trp)
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rs118049905
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NM_199242.3(UNC13D):c.629T>G (p.Val210Gly)
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rs553365957
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NM_199355.4(ADAMTS18):c.2380C>G (p.Leu794Val)
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rs140703904
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NM_201253.3(CRB1):c.3213C>T (p.Leu1071=)
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rs2125499764
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NM_201253.3(CRB1):c.4029C>T (p.Asp1343=)
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rs780087216
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NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)
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rs398124615
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NM_201384.3(PLEC):c.1002C>T (p.Ala334=)
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rs370574829
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NM_201384.3(PLEC):c.11573C>T (p.Thr3858Met)
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rs373863249
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NM_201384.3(PLEC):c.1191C>A (p.Ile397=)
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rs781888321
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NM_201384.3(PLEC):c.12243C>T (p.Thr4081=)
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rs185022156
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NM_201384.3(PLEC):c.1245C>G (p.Ala415=)
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rs782527499
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NM_201384.3(PLEC):c.1248C>T (p.Asp416=)
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rs572481168
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NM_201384.3(PLEC):c.1263+7_1263+10delinsCAGTCGGTGAGGCAGCAGTCG
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rs1064794978
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NM_201384.3(PLEC):c.13287C>A (p.Gly4429=)
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rs782581005
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NM_201384.3(PLEC):c.13347G>A (p.Ala4449=)
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rs368660987
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NM_201384.3(PLEC):c.13479G>A (p.Ser4493=)
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rs781929758
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NM_201384.3(PLEC):c.1418+10G>C
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rs782571969
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NM_201384.3(PLEC):c.2962G>C (p.Glu988Gln)
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rs367627441
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NM_201384.3(PLEC):c.3375C>G (p.Leu1125=)
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rs782733038
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NM_201384.3(PLEC):c.3676G>A (p.Ala1226Thr)
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rs782539707
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NM_201384.3(PLEC):c.5444G>A (p.Arg1815Gln)
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rs782213742
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NM_201384.3(PLEC):c.5582C>T (p.Ala1861Val)
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rs200949161
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NM_201384.3(PLEC):c.5968G>A (p.Val1990Met)
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rs201588551
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NM_201384.3(PLEC):c.6012G>C (p.Arg2004=)
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NM_201384.3(PLEC):c.6313_6314delinsAT (p.Ala2105Met)
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rs886044784
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NM_201384.3(PLEC):c.6531G>A (p.Thr2177=)
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rs782621816
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NM_201384.3(PLEC):c.6573G>A (p.Leu2191=)
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rs1564019780
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NM_201384.3(PLEC):c.7097G>A (p.Arg2366Gln)
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rs576252504
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NM_201384.3(PLEC):c.7370G>C (p.Arg2457Pro)
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rs199504105
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NM_201384.3(PLEC):c.7830G>A (p.Ala2610=)
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rs376112916
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NM_201384.3(PLEC):c.7983C>T (p.Ala2661=)
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rs376058402
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NM_201384.3(PLEC):c.804G>A (p.Val268=)
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rs1554721745
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NM_201384.3(PLEC):c.8506G>A (p.Asp2836Asn)
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rs200814155
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NM_201384.3(PLEC):c.8532G>C (p.Ala2844=)
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rs782732824
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NM_201384.3(PLEC):c.9081G>A (p.Ala3027=)
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rs199758196
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NM_201384.3(PLEC):c.9577G>T (p.Gly3193Cys)
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rs201402970
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NM_201525.4(ADGRG1):c.2040C>G (p.Gly680=)
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rs794727146
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NM_201525.4(ADGRG1):c.412A>C (p.Thr138Pro)
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rs560954695
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NM_201596.3(CACNB2):c.1206+4_1206+7dup
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rs1456201116
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NM_201596.3(CACNB2):c.1688G>A (p.Arg563Gln)
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rs766377211
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NM_201596.3(CACNB2):c.1702G>A (p.Val568Ile)
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rs142639223
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NM_201596.3(CACNB2):c.1816C>T (p.Arg606Trp)
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rs61733968
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NM_203446.3(SYNJ1):c.384T>C (p.Phe128=)
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rs746811167
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NM_203447.4(DOCK8):c.2017A>T (p.Ile673Phe)
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rs372858877
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NM_203447.4(DOCK8):c.2440+13_2440+22del
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rs769837178
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NM_203486.3(DLL3):c.982G>T (p.Val328Phe)
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rs749513254
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NM_205768.3(ZBTB18):c.1054G>A (p.Glu352Lys)
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rs1698424563
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NM_206933.4(USH2A):c.10388-17_10388-7del
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rs1442627890
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NM_206933.4(USH2A):c.10413A>G (p.Thr3471=)
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rs530322386
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NM_206933.4(USH2A):c.10465G>A (p.Ala3489Thr)
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rs1553261464
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NM_206933.4(USH2A):c.11602A>T (p.Met3868Leu)
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rs35309576
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NM_206933.4(USH2A):c.12624C>A (p.Asp4208Glu)
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rs375223901
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NM_206933.4(USH2A):c.13198G>T (p.Ala4400Ser)
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rs541022183
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NM_206933.4(USH2A):c.13222G>A (p.Val4408Ile)
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rs111033500
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NM_206933.4(USH2A):c.13649T>G (p.Val4550Gly)
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rs553956503
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NM_206933.4(USH2A):c.14027A>G (p.Gln4676Arg)
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rs397517987
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NM_206933.4(USH2A):c.15306C>G (p.Ala5102=)
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rs149506333
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NM_206933.4(USH2A):c.15581G>A (p.Arg5194His)
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rs727505155
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NM_206933.4(USH2A):c.1799G>C (p.Gly600Ala)
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rs772955674
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NM_206933.4(USH2A):c.1891G>A (p.Asp631Asn)
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rs552400144
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NM_206933.4(USH2A):c.2835C>T (p.Ala945=)
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rs1311224729
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NM_206933.4(USH2A):c.2880T>C (p.Asn960=)
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rs151177516
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NM_206933.4(USH2A):c.3026C>T (p.Ala1009Val)
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rs150729680
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NM_206933.4(USH2A):c.3812-3_3837dup
|
rs780071028
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NM_206933.4(USH2A):c.4252-36CTTT[7]
|
rs372388546
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NM_206933.4(USH2A):c.4383A>G (p.Gln1461=)
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rs978359064
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NM_206933.4(USH2A):c.5891G>A (p.Arg1964His)
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rs149465057
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NM_206933.4(USH2A):c.6094C>T (p.Leu2032=)
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rs1385829693
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NM_206933.4(USH2A):c.6486G>A (p.Gln2162=)
|
rs397518025
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NM_206933.4(USH2A):c.6565A>G (p.Ile2189Val)
|
rs542406401
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NM_206933.4(USH2A):c.6711C>A (p.Asp2237Glu)
|
rs138959688
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NM_206933.4(USH2A):c.7527G>T (p.Arg2509=)
|
rs575939496
|
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NM_206933.4(USH2A):c.7718G>A (p.Arg2573His)
|
rs189748047
|
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NM_206933.4(USH2A):c.8709C>T (p.Phe2903=)
|
rs397518040
|
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NM_206933.4(USH2A):c.8778G>A (p.Glu2926=)
|
rs374146074
|
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NM_206933.4(USH2A):c.8845+6_8845+9del
|
rs541344995
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NM_206933.4(USH2A):c.9258+3T>C
|
rs1553268427
|
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NM_206933.4(USH2A):c.9958+6G>A
|
rs1553263549
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NM_206933.4(USH2A):c.9958+8G>T
|
rs370383574
|
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NM_206965.2(FTCD):c.1540-17_1540-16del
|
rs747091513
|
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NM_207034.3(EDN3):c.*148_*149del
|
rs11475273
|
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NM_207034.3(EDN3):c.49G>A (p.Ala17Thr)
|
rs11570255
|
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NM_207122.2(EXT2):c.198G>C (p.Val66=)
|
rs775542605
|
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NM_207122.2(EXT2):c.245A>C (p.Asp82Ala)
|
rs534539796
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NM_207122.2(EXT2):c.520A>C (p.Met174Leu)
|
rs111589746
|
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NM_207346.3(TSEN54):c.315A>T (p.Ser105=)
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NM_207346.3(TSEN54):c.370-9C>T
|
rs797046056
|
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NM_207352.4(CYP4V2):c.1479C>T (p.Asn493=)
|
rs374270799
|
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NM_207361.6(FREM2):c.3035_3040dup (p.Gly1012_Ser1013dup)
|
rs570476408
|
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NM_207361.6(FREM2):c.305G>C (p.Gly102Ala)
|
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NM_207361.6(FREM2):c.7329T>A (p.Pro2443=)
|
rs1303270704
|
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NM_207361.6(FREM2):c.850G>C (p.Val284Leu)
|
rs770004356
|
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NM_207361.6(FREM2):c.87GCT[8] (p.Leu38_Ser39insLeu)
|
|
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NM_212482.4(FN1):c.74G>A (p.Gly25Glu)
|
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NM_213599.3(ANO5):c.*3290G>C
|
rs142126223
|
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NM_213599.3(ANO5):c.1222C>T (p.Leu408=)
|
rs997655691
|
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NM_213599.3(ANO5):c.138+10G>A
|
rs78987921
|
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NM_213599.3(ANO5):c.2688C>G (p.Ala896=)
|
rs377549896
|
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NM_213599.3(ANO5):c.295-8dup
|
rs778435515
|
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NM_213599.3(ANO5):c.879-7_879-6del
|
rs143977836
|
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NM_213653.4(HJV):c.345C>T (p.Ile115=)
|
rs142575526
|
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NM_213655.5(WNK1):c.2172dup (p.Pro725fs)
|
rs910119961
|
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NM_213720.3(CHCHD10):c.276T>A (p.Ala92=)
|
rs1252496774
|
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NM_213720.3(CHCHD10):c.42-5C>T
|
rs868345557
|
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NR_028089.1(NXF5):n.1324G>A
|
|
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NR_178195.1(LFNG):n.265_268GATG[8]
|
rs34637446
|
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Single allele
|
rs200202883
|
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