NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
NM_000140.5(FECH):c.315-48T>C
|
rs2272783
|
0.06200
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)
|
rs17580
|
0.02950
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)
|
rs28929474
|
0.01282
|
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly)
|
rs1799807
|
0.01259
|
NM_000506.5(F2):c.*97G>A
|
rs1799963
|
0.00979
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)
|
rs6445
|
0.00530
|
NM_000110.4(DPYD):c.1905+1G>A
|
rs3918290
|
0.00474
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)
|
rs121918166
|
0.00350
|
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter)
|
rs7755898
|
0.00339
|
NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val)
|
rs67376798
|
0.00334
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)
|
rs149989682
|
0.00304
|
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
|
rs1800553
|
0.00269
|
NM_201631.4(TGM5):c.337G>T (p.Gly113Cys)
|
rs112292549
|
0.00252
|
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg)
|
rs104893836
|
0.00234
|
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)
|
rs34424986
|
0.00226
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)
|
rs397515360
|
0.00183
|
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
0.00181
|
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)
|
rs61751374
|
0.00178
|
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)
|
rs121912691
|
0.00175
|
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)
|
rs114925667
|
0.00169
|
NM_007055.4(POLR3A):c.1909+22G>A
|
rs191875469
|
0.00156
|
NM_138413.4(HOGA1):c.700+5G>T
|
rs185803104
|
0.00156
|
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)
|
rs104894299
|
0.00149
|
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)
|
rs147231991
|
0.00146
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter)
|
rs201754030
|
0.00136
|
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)
|
rs74315294
|
0.00134
|
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln)
|
rs104893837
|
0.00132
|
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr)
|
rs137868995
|
0.00125
|
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter)
|
rs72653706
|
0.00122
|
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)
|
rs6475
|
0.00117
|
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)
|
rs113994167
|
0.00116
|
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)
|
rs141659620
|
0.00103
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)
|
rs191312027
|
0.00101
|
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln)
|
rs76151636
|
0.00100
|
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val)
|
rs145451123
|
0.00098
|
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)
|
rs137854523
|
0.00098
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
NM_000158.4(GBE1):c.691+2T>C
|
rs192044702
|
0.00078
|
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp)
|
rs199422217
|
0.00077
|
NM_000016.6(ACADM):c.199T>C (p.Tyr67His)
|
rs121434280
|
0.00073
|
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter)
|
rs150259543
|
0.00073
|
NM_000402.4(G6PD):c.934G>C (p.Asp312His)
|
rs137852318
|
0.00072
|
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter)
|
rs763672163
|
0.00071
|
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys)
|
rs146013446
|
0.00070
|
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)
|
rs201587138
|
0.00069
|
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)
|
rs113994095
|
0.00068
|
NM_013339.4(ALG6):c.257+5G>A
|
rs199682486
|
0.00065
|
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter)
|
rs121434422
|
0.00058
|
NM_004004.6(GJB2):c.167del (p.Leu56fs)
|
rs80338942
|
0.00058
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)
|
rs150591260
|
0.00057
|
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
|
rs148660051
|
0.00056
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp)
|
rs143218168
|
0.00054
|
NM_000391.4(TPP1):c.509-1G>C
|
rs56144125
|
0.00053
|
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)
|
rs202088921
|
0.00052
|
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)
|
rs61754388
|
0.00051
|
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00049
|
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)
|
rs1805137
|
0.00048
|
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)
|
rs61750641
|
0.00048
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter)
|
rs137891647
|
0.00047
|
NM_000487.6(ARSA):c.465+1G>A
|
rs80338815
|
0.00046
|
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)
|
rs387906309
|
0.00046
|
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)
|
rs28942073
|
0.00046
|
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val)
|
rs143797113
|
0.00046
|
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)
|
rs200179145
|
0.00044
|
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)
|
rs190521996
|
0.00042
|
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)
|
rs138977195
|
0.00041
|
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp)
|
rs150429680
|
0.00041
|
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser)
|
rs55886062
|
0.00040
|
NM_000204.5(CFI):c.355G>A (p.Gly119Arg)
|
rs141853578
|
0.00040
|
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)
|
rs111033303
|
0.00039
|
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)
|
rs137852700
|
0.00038
|
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu)
|
rs28940893
|
0.00037
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys)
|
rs141386891
|
0.00036
|
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)
|
rs28939378
|
0.00036
|
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)
|
rs80338848
|
0.00035
|
NM_005373.3(MPL):c.305G>C (p.Arg102Pro)
|
rs28928907
|
0.00035
|
NM_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00034
|
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)
|
rs75193786
|
0.00032
|
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys)
|
rs148812376
|
0.00032
|
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser)
|
rs61761869
|
0.00031
|
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)
|
rs121908096
|
0.00031
|
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)
|
rs34295337
|
0.00030
|
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter)
|
rs121908576
|
0.00030
|
NM_000441.2(SLC26A4):c.1001+1G>A
|
rs80338849
|
0.00029
|
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val)
|
rs113994012
|
0.00029
|
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala)
|
rs28940279
|
0.00028
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_000359.3(TGM1):c.877-2A>G
|
rs142634031
|
0.00027
|
NM_000441.2(SLC26A4):c.-3-2A>G
|
rs397516411
|
0.00027
|
NM_004562.3(PRKN):c.101_102del (p.Gln34fs)
|
rs55777503
|
0.00027
|
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)
|
rs143712760
|
0.00026
|
NM_153240.5(NPHP3):c.2694-2_2694-1del
|
rs751527253
|
0.00026
|
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)
|
rs5030860
|
0.00025
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn)
|
rs199589947
|
0.00025
|
NM_016146.6(TRAPPC4):c.454+3A>G
|
rs375776811
|
0.00025
|
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp)
|
rs138119149
|
0.00025
|
NM_001126108.2(SLC12A3):c.2856+1G>T
|
rs199974259
|
0.00024
|
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)
|
rs121912707
|
0.00024
|
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys)
|
rs121918221
|
0.00024
|
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)
|
rs121918167
|
0.00023
|
NM_001395413.1(POR):c.850G>C (p.Ala284Pro)
|
rs121912974
|
0.00023
|
NM_000375.3(UROS):c.217T>C (p.Cys73Arg)
|
rs121908012
|
0.00022
|
NM_152743.4(BRAT1):c.294dup (p.Leu99fs)
|
rs776913277
|
0.00022
|
NM_176869.3(PPA2):c.380G>T (p.Arg127Leu)
|
rs139076647
|
0.00022
|
NM_000404.4(GLB1):c.75+2dup
|
rs587776525
|
0.00021
|
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro)
|
rs28939086
|
0.00021
|
NM_000520.6(HEXA):c.1073+1G>A
|
rs76173977
|
0.00021
|
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)
|
rs397515540
|
0.00021
|
NM_000157.4(GBA1):c.1342G>C (p.Asp448His)
|
rs1064651
|
0.00020
|
NM_000277.3(PAH):c.506G>A (p.Arg169His)
|
rs199475679
|
0.00020
|
NM_000541.5(SAG):c.577C>T (p.Arg193Ter)
|
rs201153410
|
0.00020
|
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)
|
rs201502401
|
0.00020
|
NM_000152.5(GAA):c.525del (p.Glu176fs)
|
rs386834235
|
0.00019
|
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)
|
rs183105855
|
0.00019
|
NM_000372.5(TYR):c.823G>T (p.Val275Phe)
|
rs104894314
|
0.00019
|
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)
|
rs137853096
|
0.00019
|
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter)
|
rs200503833
|
0.00019
|
NM_058179.4(PSAT1):c.296C>T (p.Ala99Val)
|
rs587777778
|
0.00019
|
NM_145207.3(AFG2A):c.1714+1G>A
|
rs149688478
|
0.00019
|
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)
|
rs61751408
|
0.00018
|
NM_000441.2(SLC26A4):c.919-2A>G
|
rs111033313
|
0.00018
|
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu)
|
rs28936700
|
0.00017
|
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)
|
rs141498002
|
0.00017
|
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp)
|
rs121918222
|
0.00017
|
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)
|
rs200287952
|
0.00016
|
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)
|
rs9332964
|
0.00016
|
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)
|
rs111033244
|
0.00016
|
NM_001206744.2(TPO):c.1978C>G (p.Gln660Glu)
|
rs121908088
|
0.00016
|
NM_001378778.1(MPDZ):c.4469del (p.Gln1490fs)
|
rs781251438
|
0.00016
|
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)
|
rs145226920
|
0.00016
|
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe)
|
rs202020308
|
0.00016
|
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)
|
rs111033270
|
0.00016
|
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser)
|
rs121434250
|
0.00015
|
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)
|
rs121907954
|
0.00015
|
NM_000360.4(TH):c.605G>A (p.Arg202His)
|
rs80338892
|
0.00014
|
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys)
|
rs398123546
|
0.00014
|
NM_019109.5(ALG1):c.1187+3A>G
|
rs369160589
|
0.00013
|
NM_000402.4(G6PD):c.1478G>A (p.Arg493His)
|
rs72554664
|
0.00012
|
NM_003359.4(UGDH):c.193C>T (p.Arg65Ter)
|
rs200059198
|
0.00012
|
NM_144991.3(TSPEAR):c.1528C>T (p.Arg510Ter)
|
rs201663789
|
0.00012
|
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys)
|
rs377025174
|
0.00011
|
NM_001126108.2(SLC12A3):c.2554C>T (p.Arg852Cys)
|
rs373899077
|
0.00011
|
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)
|
rs104894397
|
0.00011
|
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu)
|
rs143344549
|
0.00011
|
NM_000402.4(G6PD):c.961G>A (p.Val321Met)
|
rs137852327
|
0.00010
|
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)
|
rs201118034
|
0.00010
|
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs)
|
rs746838237
|
0.00010
|
NM_152564.5(VPS13B):c.6657+1G>A
|
rs180177366
|
0.00010
|
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)
|
rs79761867
|
0.00010
|
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter)
|
rs151242354
|
0.00009
|
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn)
|
rs369414658
|
0.00009
|
NM_000170.3(GLDC):c.2607C>A (p.Pro869=)
|
rs386833565
|
0.00009
|
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter)
|
rs118203957
|
0.00009
|
NM_001083961.2(WDR62):c.1043+3A>G
|
rs587784541
|
0.00009
|
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg)
|
rs375032130
|
0.00009
|
NM_004646.4(NPHS1):c.2335-1G>A
|
rs150038620
|
0.00009
|
NM_017739.4(POMGNT1):c.1895+1G>T
|
rs386834024
|
0.00009
|
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter)
|
rs121918419
|
0.00009
|
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)
|
rs201893408
|
0.00009
|
NM_181426.2(CCDC39):c.610-2A>G
|
rs756235547
|
0.00009
|
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys)
|
rs28940872
|
0.00008
|
NM_000126.4(ETFA):c.797C>T (p.Thr266Met)
|
rs119458970
|
0.00008
|
NM_000402.4(G6PD):c.185A>G (p.His62Arg)
|
rs137852340
|
0.00008
|
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp)
|
rs111033307
|
0.00008
|
NM_000528.4(MAN2B1):c.1830+1G>C
|
rs80338677
|
0.00008
|
NM_001329943.3(KIAA0586):c.1254-1G>C
|
rs757350052
|
0.00008
|
NM_001363118.2(SLC52A2):c.1016T>C (p.Leu339Pro)
|
rs148234606
|
0.00008
|
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro)
|
rs201060167
|
0.00008
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
NM_001002294.3(FMO3):c.622G>T (p.Glu208Ter)
|
rs559643079
|
0.00007
|
NM_001042631.3(SDHAF1):c.156C>A (p.Tyr52Ter)
|
rs768768823
|
0.00007
|
NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter)
|
rs118203982
|
0.00007
|
NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser)
|
rs768849283
|
0.00007
|
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs)
|
rs606231259
|
0.00007
|
NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys)
|
rs758746181
|
0.00007
|
NM_001983.4(ERCC1):c.466C>T (p.Arg156Trp)
|
rs757369063
|
0.00007
|
NM_001994.3(F13B):c.1152_1155dup (p.Pro386fs)
|
rs748757906
|
0.00007
|
NM_004453.4(ETFDH):c.51dup (p.Ala18fs)
|
rs796051964
|
0.00007
|
NM_014239.4(EIF2B2):c.638A>G (p.Glu213Gly)
|
rs104894425
|
0.00007
|
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr)
|
rs760222236
|
0.00007
|
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)
|
rs28904921
|
0.00006
|
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)
|
rs80356771
|
0.00006
|
NM_000157.4(GBA1):c.1604G>A (p.Arg535His)
|
rs75822236
|
0.00006
|
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)
|
rs80358254
|
0.00006
|
NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys)
|
rs752786160
|
0.00006
|
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)
|
rs111033305
|
0.00006
|
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser)
|
rs111033308
|
0.00006
|
NM_000492.4(CFTR):c.2657+5G>A
|
rs80224560
|
0.00006
|
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln)
|
rs41464951
|
0.00006
|
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter)
|
rs199469707
|
0.00006
|
NM_001358530.2(MOCS1):c.418+1G>A
|
rs141982812
|
0.00006
|
NM_001363118.2(SLC52A2):c.916G>A (p.Gly306Arg)
|
rs398124641
|
0.00006
|
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter)
|
rs139675596
|
0.00006
|
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln)
|
rs121913502
|
0.00006
|
NM_005055.5(RAPSN):c.133G>A (p.Val45Met)
|
rs121909254
|
0.00006
|
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg)
|
rs147391618
|
0.00006
|
NM_054012.4(ASS1):c.470G>A (p.Arg157His)
|
rs121908637
|
0.00006
|
NM_152906.7(TANGO2):c.94C>T (p.Arg32Ter)
|
rs199801224
|
0.00006
|
NM_206933.4(USH2A):c.1036A>C (p.Asn346His)
|
rs369522997
|
0.00006
|
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
|
rs201527662
|
0.00006
|
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp)
|
rs863224973
|
0.00005
|
NM_000531.6(OTC):c.118C>T (p.Arg40Cys)
|
rs72554307
|
0.00005
|
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs)
|
rs398123799
|
0.00005
|
NM_005787.6(ALG3):c.512G>A (p.Arg171Gln)
|
rs119103236
|
0.00005
|
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter)
|
rs149850248
|
0.00005
|
NM_021957.4(GYS2):c.547C>T (p.Gln183Ter)
|
rs201157731
|
0.00005
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_054012.4(ASS1):c.787G>A (p.Val263Met)
|
rs192838388
|
0.00005
|
NM_152268.4(PARS2):c.283G>A (p.Val95Ile)
|
rs147227819
|
0.00005
|
NM_000071.3(CBS):c.341C>T (p.Ala114Val)
|
rs121964964
|
0.00004
|
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)
|
rs769976586
|
0.00004
|
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer)
|
rs781088002
|
0.00004
|
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln)
|
rs78973108
|
0.00004
|
NM_000181.4(GUSB):c.1617C>T (p.Ser539=)
|
rs377519272
|
0.00004
|
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln)
|
rs5030859
|
0.00004
|
NM_000303.3(PMM2):c.691G>A (p.Val231Met)
|
rs80338707
|
0.00004
|
NM_000350.3(ABCA4):c.4539+2028C>T
|
rs869320785
|
0.00004
|
NM_000372.5(TYR):c.832C>T (p.Arg278Ter)
|
rs62645904
|
0.00004
|
NM_000391.4(TPP1):c.225A>G (p.Gln75=)
|
rs368709098
|
0.00004
|
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)
|
rs137852339
|
0.00004
|
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)
|
rs121908362
|
0.00004
|
NM_001126108.2(SLC12A3):c.179C>T (p.Thr60Met)
|
rs371443644
|
0.00004
|
NM_001126108.2(SLC12A3):c.248G>A (p.Arg83Gln)
|
rs768527231
|
0.00004
|
NM_001126108.2(SLC12A3):c.473G>A (p.Arg158Gln)
|
rs1274973729
|
0.00004
|
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val)
|
rs140551719
|
0.00004
|
NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter)
|
rs201889294
|
0.00004
|
NM_001282225.2(ADA2):c.752C>T (p.Pro251Leu)
|
rs148936893
|
0.00004
|
NM_001384732.1(CPLANE1):c.8872C>T (p.Arg2958Ter)
|
rs141507441
|
0.00004
|
NM_002016.2(FLG):c.10969C>T (p.Arg3657Ter)
|
rs749083759
|
0.00004
|
NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp)
|
rs530348521
|
0.00004
|
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)
|
rs767178508
|
0.00004
|
NM_005726.6(TSFM):c.934C>T (p.Arg312Trp)
|
rs121909485
|
0.00004
|
NM_005866.4(SIGMAR1):c.194T>A (p.Leu65Gln)
|
rs140376902
|
0.00004
|
NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln)
|
rs754980119
|
0.00004
|
NM_006371.5(CRTAP):c.634C>T (p.Arg212Ter)
|
rs137853944
|
0.00004
|
NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg)
|
rs149614625
|
0.00004
|
NM_017547.4(FOXRED1):c.1261G>A (p.Val421Met)
|
rs199542988
|
0.00004
|
NM_020778.5(ALPK3):c.3175C>T (p.Arg1059Ter)
|
rs749465164
|
0.00004
|
NM_031307.4(PUS3):c.212A>G (p.Tyr71Cys)
|
rs761792490
|
0.00004
|
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter)
|
rs398124478
|
0.00004
|
NM_145200.5(CABP4):c.646C>T (p.Arg216Ter)
|
rs150115958
|
0.00004
|
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe)
|
rs200320892
|
0.00004
|
NM_173076.3(ABCA12):c.4139A>G (p.Asn1380Ser)
|
rs28940269
|
0.00004
|
NM_212552.3(BOLA3):c.136C>T (p.Arg46Ter)
|
rs143492730
|
0.00004
|
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met)
|
rs113994169
|
0.00003
|
NM_000022.4(ADA):c.478+1G>A
|
rs761242509
|
0.00003
|
NM_000157.4(GBA1):c.475C>T (p.Arg159Trp)
|
rs439898
|
0.00003
|
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter)
|
rs138149179
|
0.00003
|
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu)
|
rs80338701
|
0.00003
|
NM_000338.3(SLC12A1):c.1432G>A (p.Gly478Arg)
|
rs758166864
|
0.00003
|
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)
|
rs61751404
|
0.00003
|
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp)
|
rs41556519
|
0.00003
|
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys)
|
rs137852330
|
0.00003
|
NM_000406.3(GNRHR):c.806C>T (p.Thr269Met)
|
rs369176613
|
0.00003
|
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter)
|
rs747349942
|
0.00003
|
NM_001005242.3(PKP2):c.2014-1G>C
|
rs193922674
|
0.00003
|
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)
|
rs119103229
|
0.00003
|
NM_001363118.2(SLC52A2):c.808C>T (p.Gln270Ter)
|
rs375088539
|
0.00003
|
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp)
|
rs998045226
|
0.00003
|
NM_004482.4(GALNT3):c.1312C>T (p.Arg438Cys)
|
rs764730691
|
0.00003
|
NM_004646.4(NPHS1):c.3481+1G>T
|
rs142883811
|
0.00003
|
NM_005085.4(NUP214):c.112C>T (p.Arg38Cys)
|
rs143595616
|
0.00003
|
NM_005957.5(MTHFR):c.1699C>T (p.Arg567Ter)
|
rs140277700
|
0.00003
|
NM_006846.4(SPINK5):c.1111C>T (p.Arg371Ter)
|
rs777436361
|
0.00003
|
NM_012144.4(DNAI1):c.1222G>A (p.Val408Met)
|
rs794727103
|
0.00003
|
NM_014967.5(FAN1):c.2616del (p.Asp873fs)
|
rs750056424
|
0.00003
|
NM_017807.4(OSGEP):c.740G>A (p.Arg247Gln)
|
rs773173317
|
0.00003
|
NM_018122.5(DARS2):c.172C>G (p.Arg58Gly)
|
rs375700548
|
0.00003
|
NM_018255.4(ELP2):c.1657C>T (p.Gln553Ter)
|
rs1400164869
|
0.00003
|
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter)
|
rs147030232
|
0.00003
|
NM_138694.4(PKHD1):c.353del (p.Ser118fs)
|
rs398124483
|
0.00003
|
NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter)
|
rs199754807
|
0.00003
|
NM_198239.2(CCN6):c.156C>A (p.Cys52Ter)
|
rs121908901
|
0.00003
|
NM_000051.4(ATM):c.3993+1G>A
|
rs200196781
|
0.00002
|
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)
|
rs587782292
|
0.00002
|
NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter)
|
rs144023803
|
0.00002
|
NM_000135.4(FANCA):c.2778+1G>A
|
rs140180549
|
0.00002
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
NM_000153.4(GALC):c.857G>A (p.Gly286Asp)
|
rs199847983
|
0.00002
|
NM_000197.2(HSD17B3):c.695C>T (p.Ser232Leu)
|
rs28939085
|
0.00002
|
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)
|
rs104894526
|
0.00002
|
NM_000348.4(SRD5A2):c.607G>A (p.Gly203Ser)
|
rs9332961
|
0.00002
|
NM_000404.4(GLB1):c.1445G>A (p.Arg482His)
|
rs72555391
|
0.00002
|
NM_000520.6(HEXA):c.1421+1G>C
|
rs147324677
|
0.00002
|
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn)
|
rs749038326
|
0.00002
|
NM_001010892.3(RSPH4A):c.1453C>T (p.Arg485Ter)
|
rs1034327724
|
0.00002
|
NM_001034116.2(EIF2B4):c.626G>A (p.Arg209Gln)
|
rs113994028
|
0.00002
|
NM_001081.4(CUBN):c.10233G>A (p.Trp3411Ter)
|
rs144484373
|
0.00002
|
NM_001282225.2(ADA2):c.336C>G (p.His112Gln)
|
rs587777241
|
0.00002
|
NM_001298.3(CNGA3):c.450-1G>A
|
rs754158805
|
0.00002
|
NM_001377.3(DYNC2H1):c.5547del (p.Phe1849fs)
|
rs771003300
|
0.00002
|
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs)
|
rs797045228
|
0.00002
|
NM_001395413.1(POR):c.1606G>A (p.Gly536Arg)
|
rs121912976
|
0.00002
|
NM_001399.5(EDA):c.463C>T (p.Arg155Cys)
|
rs132630312
|
0.00002
|
NM_001458.5(FLNC):c.4636G>A (p.Gly1546Ser)
|
rs774263134
|
0.00002
|
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu)
|
rs370228071
|
0.00002
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
NM_004482.4(GALNT3):c.892del (p.Tyr298fs)
|
rs762936774
|
0.00002
|
NM_006580.4(CLDN16):c.243G>T (p.Leu81Phe)
|
rs104893729
|
0.00002
|
NM_006846.4(SPINK5):c.81+2T>A
|
rs1131691490
|
0.00002
|
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp)
|
rs753711253
|
0.00002
|
NM_015978.3(TNNI3K):c.2302G>A (p.Glu768Lys)
|
rs202238194
|
0.00002
|
NM_016580.4(PCDH12):c.922C>T (p.Arg308Ter)
|
rs370283860
|
0.00002
|
NM_018238.4(AGK):c.672C>A (p.Tyr224Ter)
|
rs771945804
|
0.00002
|
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter)
|
rs767745816
|
0.00002
|
NM_020442.6(VARS2):c.1834_1835del (p.Leu612fs)
|
rs777028011
|
0.00002
|
NM_024306.5(FA2H):c.565C>T (p.Arg189Ter)
|
rs765086319
|
0.00002
|
NM_025243.4(SLC19A3):c.81_82dup (p.Met28fs)
|
rs775835429
|
0.00002
|
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys)
|
rs121918527
|
0.00002
|
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)
|
rs104886308
|
0.00002
|
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter)
|
rs201082169
|
0.00002
|
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)
|
rs199568593
|
0.00002
|
NM_152416.4(NDUFAF6):c.420+784C>T
|
rs749738738
|
0.00002
|
NM_153240.5(NPHP3):c.3775C>T (p.Arg1259Ter)
|
rs758716466
|
0.00002
|
NM_153676.4(USH1C):c.216G>A (p.Val72=)
|
rs151045328
|
0.00002
|
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter)
|
rs199679165
|
0.00002
|
NM_206933.4(USH2A):c.9371+1G>C
|
rs41308425
|
0.00002
|
NM_000020.3(ACVRL1):c.1121G>A (p.Arg374Gln)
|
rs1060503248
|
0.00001
|
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)
|
rs121909284
|
0.00001
|
NM_000030.3(AGXT):c.364C>T (p.Arg122Ter)
|
rs180177210
|
0.00001
|
NM_000044.6(AR):c.2668G>A (p.Val890Met)
|
rs886041133
|
0.00001
|
NM_000054.7(AVPR2):c.409C>T (p.Arg137Cys)
|
rs104894761
|
0.00001
|
NM_000085.5(CLCNKB):c.226C>T (p.Arg76Ter)
|
rs370985865
|
0.00001
|
NM_000091.5(COL4A3):c.1594G>T (p.Gly532Cys)
|
rs779575469
|
0.00001
|
NM_000092.5(COL4A4):c.2617G>A (p.Gly873Arg)
|
rs929684384
|
0.00001
|
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter)
|
rs121912861
|
0.00001
|
NM_000094.4(COL7A1):c.8245G>A (p.Gly2749Arg)
|
rs121912853
|
0.00001
|
NM_000110.4(DPYD):c.61C>T (p.Arg21Ter)
|
rs72549310
|
0.00001
|
NM_000132.4(F8):c.5302C>T (p.Arg1768Cys)
|
rs1046670041
|
0.00001
|
NM_000138.5(FBN1):c.5788+5G>A
|
rs193922219
|
0.00001
|
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn)
|
rs387906952
|
0.00001
|
NM_000155.4(GALT):c.443G>A (p.Arg148Gln)
|
rs111033694
|
0.00001
|
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln)
|
rs755586631
|
0.00001
|
NM_000169.3(GLA):c.644A>G (p.Asn215Ser)
|
rs28935197
|
0.00001
|
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp)
|
rs386833556
|
0.00001
|
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)
|
rs770225915
|
0.00001
|
NM_000218.3(KCNQ1):c.1031C>T (p.Ala344Val)
|
rs199472763
|
0.00001
|
NM_000235.4(LIPA):c.111+1G>A
|
rs762960877
|
0.00001
|
NM_000238.4(KCNH2):c.3040C>T (p.Arg1014Ter)
|
rs794728403
|
0.00001
|
NM_000257.4(MYH7):c.1816G>A (p.Val606Met)
|
rs121913627
|
0.00001
|
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met)
|
rs28942104
|
0.00001
|
NM_000271.5(NPC1):c.3493G>A (p.Val1165Met)
|
rs748862167
|
0.00001
|
NM_000277.3(PAH):c.169-2A>G
|
rs1226613045
|
0.00001
|
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter)
|
rs1324209174
|
0.00001
|
NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter)
|
rs369678636
|
0.00001
|
NM_000297.4(PKD2):c.973C>T (p.Arg325Ter)
|
rs1060503526
|
0.00001
|
NM_000310.4(PPT1):c.325T>G (p.Tyr109Asp)
|
rs386833642
|
0.00001
|
NM_000330.4(RS1):c.304C>T (p.Arg102Trp)
|
rs61752067
|
0.00001
|
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)
|
rs137854601
|
0.00001
|
NM_000350.3(ABCA4):c.247_250dup (p.Ser84fs)
|
rs1005271380
|
0.00001
|
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg)
|
rs61750135
|
0.00001
|
NM_000350.3(ABCA4):c.4463G>T (p.Cys1488Phe)
|
rs61750147
|
0.00001
|
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys)
|
rs61748538
|
0.00001
|
NM_000359.3(TGM1):c.790C>T (p.Arg264Trp)
|
rs201868387
|
0.00001
|
NM_000360.4(TH):c.1103C>T (p.Thr368Met)
|
rs1057520384
|
0.00001
|
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp)
|
rs104894724
|
0.00001
|
NM_000363.5(TNNI3):c.610C>T (p.Arg204Cys)
|
rs727504243
|
0.00001
|
NM_000404.4(GLB1):c.1480-2A>G
|
rs587776526
|
0.00001
|
NM_000434.4(NEU1):c.615G>A (p.Gln205=)
|
rs781137251
|
0.00001
|
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser)
|
rs1060499808
|
0.00001
|
NM_000441.2(SLC26A4):c.916dup (p.Val306fs)
|
rs768245266
|
0.00001
|
NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln)
|
rs74315477
|
0.00001
|
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys)
|
rs121907952
|
0.00001
|
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter)
|
rs769035623
|
0.00001
|
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp)
|
rs45438205
|
0.00001
|
NM_000891.3(KCNJ2):c.430G>A (p.Gly144Ser)
|
rs199473378
|
0.00001
|
NM_001005242.3(PKP2):c.1132C>T (p.Gln378Ter)
|
rs397516986
|
0.00001
|
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs)
|
rs1555455457
|
0.00001
|
NM_001009944.3(PKD1):c.8017-2_8017-1del
|
rs1567180636
|
0.00001
|
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)
|
rs1057518897
|
0.00001
|
NM_001009944.3(PKD1):c.9202-16G>A
|
rs1389523126
|
0.00001
|
NM_001034116.2(EIF2B4):c.728C>T (p.Pro243Leu)
|
rs113994030
|
0.00001
|
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp)
|
rs190140598
|
0.00001
|
NM_001042432.2(CLN3):c.949C>T (p.Gln317Ter)
|
rs796052335
|
0.00001
|
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln)
|
rs137854556
|
0.00001
|
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)
|
rs760703505
|
0.00001
|
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)
|
rs797045139
|
0.00001
|
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter)
|
rs397514641
|
0.00001
|
NM_001042631.3(SDHAF1):c.28C>T (p.Gln10Ter)
|
rs1397859218
|
0.00001
|
NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp)
|
rs1434169817
|
0.00001
|
NM_001126108.2(SLC12A3):c.1180+1G>T
|
rs749098014
|
0.00001
|
NM_001126108.2(SLC12A3):c.1926-1G>T
|
rs755560627
|
0.00001
|
NM_001126108.2(SLC12A3):c.3025C>T (p.Arg1009Ter)
|
rs781209989
|
0.00001
|
NM_001127222.2(CACNA1A):c.1594G>A (p.Glu532Lys)
|
rs1064794263
|
0.00001
|
NM_001198800.3(ASCC1):c.583C>T (p.Gln195Ter)
|
rs769501930
|
0.00001
|
NM_001204.7(BMPR2):c.1771C>T (p.Arg591Ter)
|
rs777458559
|
0.00001
|
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter)
|
rs776976178
|
0.00001
|
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys)
|
rs397516463
|
0.00001
|
NM_001369.3(DNAH5):c.5177T>C (p.Leu1726Pro)
|
rs138890576
|
0.00001
|
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu)
|
rs267607235
|
0.00001
|
NM_001371986.1(UNC80):c.286C>T (p.Arg96Ter)
|
rs538956139
|
0.00001
|
NM_001377295.2(GNAT2):c.937C>T (p.Arg313Ter)
|
rs748981899
|
0.00001
|
NM_001378615.1(CC2D2A):c.3763C>T (p.Arg1255Ter)
|
rs1271825377
|
0.00001
|
NM_001384732.1(CPLANE1):c.2932C>T (p.Arg978Ter)
|
rs1359437084
|
0.00001
|
NM_001698.3(AUH):c.263-2A>G
|
rs730880311
|
0.00001
|
NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys)
|
rs797044590
|
0.00001
|
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys)
|
rs1303837541
|
0.00001
|
NM_002472.3(MYH8):c.2021G>A (p.Arg674Gln)
|
rs121434590
|
0.00001
|
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)
|
rs121918457
|
0.00001
|
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)
|
rs121918459
|
0.00001
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
NM_003801.4(GPAA1):c.619del (p.Met207fs)
|
rs782615259
|
0.00001
|
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter)
|
rs387906875
|
0.00001
|
NM_004444.5(EPHB4):c.1093C>T (p.Arg365Ter)
|
rs1279971868
|
0.00001
|
NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln)
|
rs113605875
|
0.00001
|
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)
|
rs397518413
|
0.00001
|
NM_005631.5(SMO):c.1726C>T (p.Arg576Trp)
|
rs767688088
|
0.00001
|
NM_005677.4(COLQ):c.1195+1G>A
|
rs755782087
|
0.00001
|
NM_005677.4(COLQ):c.943C>T (p.Arg315Ter)
|
rs121908924
|
0.00001
|
NM_005957.5(MTHFR):c.1013T>C (p.Met338Thr)
|
rs368321176
|
0.00001
|
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met)
|
rs121434502
|
0.00001
|
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=)
|
rs397515480
|
0.00001
|
NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter)
|
rs104894093
|
0.00001
|
NM_006759.4(UGP2):c.34A>G (p.Met12Val)
|
rs768305634
|
0.00001
|
NM_006846.4(SPINK5):c.2557C>T (p.Arg853Ter)
|
rs753621591
|
0.00001
|
NM_007103.4(NDUFV1):c.1156C>T (p.Arg386Cys)
|
rs150966634
|
0.00001
|
NM_007198.4(PLPBP):c.722G>A (p.Arg241Gln)
|
rs760609867
|
0.00001
|
NM_007214.5(SEC63):c.292C>T (p.Arg98Ter)
|
rs768568123
|
0.00001
|
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)
|
rs267607048
|
0.00001
|
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs)
|
rs1234745577
|
0.00001
|
NM_014804.3(KIAA0753):c.1546-3C>A
|
rs886038201
|
0.00001
|
NM_014804.3(KIAA0753):c.1891A>T (p.Lys631Ter)
|
rs886038200
|
0.00001
|
NM_015909.4(NBAS):c.2951T>G (p.Ile984Ser)
|
rs140841721
|
0.00001
|
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln)
|
rs121908987
|
0.00001
|
NM_017662.5(TRPM6):c.841+1G>A
|
rs371363425
|
0.00001
|
NM_017721.5(CC2D1A):c.2347C>T (p.Arg783Ter)
|
rs779620838
|
0.00001
|
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)
|
rs386834034
|
0.00001
|
NM_018238.4(AGK):c.409C>T (p.Arg137Ter)
|
rs746709222
|
0.00001
|
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys)
|
rs397515405
|
0.00001
|
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr)
|
rs77939446
|
0.00001
|
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys)
|
rs745571683
|
0.00001
|
NM_022552.5(DNMT3A):c.1243C>T (p.Gln415Ter)
|
rs754223052
|
0.00001
|
NM_024740.2(ALG9):c.1363C>T (p.Arg455Ter)
|
rs782775735
|
0.00001
|
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter)
|
rs757641323
|
0.00001
|
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter)
|
rs201196733
|
0.00001
|
NM_054012.4(ASS1):c.370G>A (p.Asp124Asn)
|
rs936192871
|
0.00001
|
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)
|
rs781368899
|
0.00001
|
NM_138694.4(PKHD1):c.11398+2T>C
|
rs754038777
|
0.00001
|
NM_138694.4(PKHD1):c.1690C>T (p.Arg564Ter)
|
rs765251347
|
0.00001
|
NM_138694.4(PKHD1):c.7350+653A>G
|
rs1240212722
|
0.00001
|
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter)
|
rs398124500
|
0.00001
|
NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter)
|
rs765020336
|
0.00001
|
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter)
|
rs786204688
|
0.00001
|
NM_152906.7(TANGO2):c.256C>T (p.Arg86Ter)
|
rs1162037663
|
0.00001
|
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter)
|
rs762551629
|
0.00001
|
NM_153704.6(TMEM67):c.2322+2dup
|
rs386834192
|
0.00001
|
NM_201525.4(ADGRG1):c.235C>T (p.Arg79Ter)
|
rs780718243
|
0.00001
|
NM_201548.5(CERKL):c.967_968del (p.Met323fs)
|
rs750151209
|
0.00001
|
NM_206933.4(USH2A):c.1841-2A>G
|
rs397518003
|
0.00001
|
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter)
|
rs534534437
|
0.00001
|
NM_206933.4(USH2A):c.3317-2A>G
|
rs2034951427
|
0.00001
|
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)
|
rs397518041
|
0.00001
|
GRCh37/hg19 16p13.11(chr16:16248791-16260443)
|
|
|
GRCh37/hg19 6p21.33(chr6:31824828-31834398)
|
|
|
GRCh37/hg19 Xq21.1(chrX:77238734-77312616)
|
|
|
NC_000001.11:g.196706898_196873196del
|
|
|
NC_000002.12:g.43986415_44009956del
|
|
|
NC_000013.11:g.20222821_20531941del
|
|
|
NC_000017.11:g.3600934_3658165del
|
|
|
NC_000022.11:g.20041466_20075200del
|
|
|
NC_000023.11:g.153714363_153781647del
|
|
|
NC_000023.11:g.31762447_31872385del
|
|
|
NC_012920.1:m.11778G>A
|
rs199476112
|
|
NC_012920.1:m.3243A>G
|
rs199474657
|
|
NC_012920.1:m.8350_13450del
|
|
|
NC_012920.1:m.8480_13440del
|
|
|
NM_000018.4(ACADVL):c.552C>A (p.Ile184=)
|
rs770961747
|
|
NM_000019.4(ACAT1):c.369_372del (p.Asn123fs)
|
|
|
NM_000020.3(ACVRL1):c.1069C>T (p.Gln357Ter)
|
rs2139075900
|
|
NM_000020.3(ACVRL1):c.140G>C (p.Arg47Pro)
|
rs774389618
|
|
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter)
|
rs1057517944
|
|
NM_000020.3(ACVRL1):c.435del (p.Arg146fs)
|
rs2139067539
|
|
NM_000020.3(ACVRL1):c.475G>T (p.Glu159Ter)
|
rs1940756257
|
|
NM_000021.4(PSEN1):c.656T>C (p.Leu219Pro)
|
rs63750761
|
|
NM_000021.4(PSEN1):c.869-1G>A
|
rs63750219
|
|
NM_000030.3(AGXT):c.33dup (p.Lys12fs)
|
rs180177201
|
|
NM_000033.4(ABCD1):c.1201C>T (p.Arg401Trp)
|
rs727503786
|
|
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)
|
rs1557055340
|
|
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys)
|
rs78340951
|
|
NM_000044.6(AR):c.2494C>G (p.Arg832Gly)
|
rs2147537840
|
|
NM_000044.6(AR):c.2495G>A (p.Arg832Gln)
|
rs1386577803
|
|
NM_000044.6(AR):c.2566C>T (p.Arg856Cys)
|
rs886041132
|
|
NM_000044.6(AR):c.754G>T (p.Glu252Ter)
|
|
|
NM_000046.5(ARSB):c.962T>C (p.Leu321Pro)
|
rs1554079320
|
|
NM_000048.4(ASL):c.556C>T (p.Arg186Trp)
|
rs111407265
|
|
NM_000051.4(ATM):c.1215del (p.Asn405fs)
|
rs1555069815
|
|
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)
|
rs587779834
|
|
NM_000051.4(ATM):c.7550del (p.Leu2517fs)
|
rs2136492942
|
|
NM_000051.4(ATM):c.7629_7629+4del
|
rs876660041
|
|
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs)
|
rs1450394308
|
|
NM_000052.7(ATP7A):c.2280C>G (p.Tyr760Ter)
|
|
|
NM_000053.4(ATP7B):c.111dup (p.Ala38fs)
|
rs1555296939
|
|
NM_000053.4(ATP7B):c.2532del (p.Val845fs)
|
rs755709270
|
|
NM_000053.4(ATP7B):c.2692C>T (p.Gln898Ter)
|
rs1957898187
|
|
NM_000054.7(AVPR2):c.541C>T (p.Arg181Cys)
|
rs104894757
|
|
NM_000054.7(AVPR2):c.832GTC[1] (p.Val279del)
|
rs2064967091
|
|
NM_000061.3(BTK):c.1257del (p.Lys420fs)
|
rs2147428293
|
|
NM_000061.3(BTK):c.1558C>T (p.Arg520Ter)
|
rs128621201
|
|
NM_000074.3(CD40LG):c.478C>T (p.Gln160Ter)
|
rs767889061
|
|
NM_000085.5(CLCNKB):c.619del (p.Val207fs)
|
|
|
NM_000088.4(COL1A1):c.1138G>A (p.Gly380Ser)
|
rs72648313
|
|
NM_000088.4(COL1A1):c.1299+1G>A
|
rs66490707
|
|
NM_000088.4(COL1A1):c.1812del (p.Gly605fs)
|
rs193922143
|
|
NM_000088.4(COL1A1):c.2072del (p.Pro691fs)
|
rs72651639
|
|
NM_000088.4(COL1A1):c.2569G>T (p.Gly857Cys)
|
rs72653141
|
|
NM_000088.4(COL1A1):c.3118G>A (p.Gly1040Ser)
|
rs72653178
|
|
NM_000088.4(COL1A1):c.319_322dup (p.Thr108fs)
|
|
|
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser)
|
rs67815019
|
|
NM_000088.4(COL1A1):c.3540del (p.Gly1181fs)
|
|
|
NM_000088.4(COL1A1):c.3652G>A (p.Ala1218Thr)
|
rs72656337
|
|
NM_000088.4(COL1A1):c.3819_3822delinsTTGATTGTGGTCCACAGGGT (p.Glu1273_Tyr1274delinsAspTer)
|
|
|
NM_000088.4(COL1A1):c.452dup (p.Pro152fs)
|
rs2144590955
|
|
NM_000088.4(COL1A1):c.697-2A>C
|
|
|
NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg)
|
rs72645321
|
|
NM_000091.5(COL4A3):c.2162del (p.Gly721fs)
|
rs1399954090
|
|
NM_000092.5(COL4A4):c.2279dup (p.Asp761fs)
|
rs1553643669
|
|
NM_000092.5(COL4A4):c.230G>C (p.Gly77Ala)
|
rs112204566
|
|
NM_000092.5(COL4A4):c.2377del (p.Ala793fs)
|
rs1976320157
|
|
NM_000092.5(COL4A4):c.2638del (p.Ala880fs)
|
rs778043831
|
|
NM_000092.5(COL4A4):c.446G>T (p.Gly149Val)
|
rs374815903
|
|
NM_000094.4(COL7A1):c.3840del (p.Gly1281fs)
|
rs757688782
|
|
NM_000094.4(COL7A1):c.7474C>T (p.Arg2492Ter)
|
rs765529435
|
|
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs)
|
rs397509431
|
|
NM_000108.5(DLD):c.1436A>T (p.Asp479Val)
|
rs397514649
|
|
NM_000110.4(DPYD):c.2650G>T (p.Glu884Ter)
|
|
|
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)
|
rs727504327
|
|
NM_000116.5(TAFAZZIN):c.580dup (p.Trp194fs)
|
rs2148211636
|
|
NM_000117.3(EMD):c.650_654dup (p.Gln219fs)
|
rs730880352
|
|
NM_000122.2(ERCC3):c.1300G>T (p.Glu434Ter)
|
|
|
NM_000123.4(ERCC5):c.2766dup (p.Leu923fs)
|
rs760232640
|
|
NM_000127.3(EXT1):c.1656del (p.Tyr553fs)
|
rs1823353269
|
|
NM_000132.4(F8):c.2163G>T (p.Met721Ile)
|
rs1218576358
|
|
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)
|
rs397507552
|
|
NM_000136.3(FANCC):c.67del (p.Asp23fs)
|
rs104886459
|
|
NM_000138.5(FBN1):c.1556A>G (p.Tyr519Cys)
|
rs1555400278
|
|
NM_000138.5(FBN1):c.2629_2645dup (p.Trp883fs)
|
|
|
NM_000138.5(FBN1):c.4460A>G (p.Asp1487Gly)
|
rs1555397216
|
|
NM_000138.5(FBN1):c.4657_4658del (p.Ile1553fs)
|
|
|
NM_000138.5(FBN1):c.6425G>A (p.Cys2142Tyr)
|
rs794728335
|
|
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter)
|
rs113001196
|
|
NM_000138.5(FBN1):c.6872-961A>G
|
rs1597519658
|
|
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)
|
rs137854480
|
|
NM_000138.5(FBN1):c.7240C>T (p.Arg2414Ter)
|
rs112550005
|
|
NM_000138.5(FBN1):c.7712G>A (p.Cys2571Tyr)
|
rs1555394153
|
|
NM_000138.5(FBN1):c.8021G>A (p.Cys2674Tyr)
|
rs1555393827
|
|
NM_000140.5(FECH):c.40del (p.Ala14fs)
|
|
|
NM_000141.5(FGFR2):c.1141T>G (p.Tyr381Asp)
|
rs387906678
|
|
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)
|
rs4647924
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
NM_000156.6(GAMT):c.299_311dup (p.Arg105fs)
|
rs80338736
|
|
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)
|
rs421016
|
|
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)
|
rs566417795
|
|
NM_000168.6(GLI3):c.2374C>T (p.Arg792Ter)
|
rs121917714
|
|
NM_000168.6(GLI3):c.438C>G (p.Tyr146Ter)
|
rs151222023
|
|
NM_000169.3(GLA):c.374A>T (p.His125Leu)
|
|
|
NM_000169.3(GLA):c.383G>A (p.Gly128Glu)
|
|
|
NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg)
|
rs1060502901
|
|
NM_000194.3(HPRT1):c.568G>T (p.Gly190Ter)
|
|
|
NM_000203.5(IDUA):c.1456G>T (p.Glu486Ter)
|
rs1356329915
|
|
NM_000206.3(IL2RG):c.865C>T (p.Arg289Ter)
|
rs137852508
|
|
NM_000214.3(JAG1):c.1181dup (p.Asn394fs)
|
|
|
NM_000214.3(JAG1):c.1961del (p.Ile654fs)
|
|
|
NM_000214.3(JAG1):c.95C>A (p.Ser32Ter)
|
rs2122644940
|
|
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr)
|
rs120074177
|
|
NM_000238.4(KCNH2):c.1128G>A (p.Gln376=)
|
rs770047651
|
|
NM_000238.4(KCNH2):c.1557+1G>C
|
rs886039043
|
|
NM_000238.4(KCNH2):c.1819del (p.Ile607fs)
|
rs2116960827
|
|
NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val)
|
rs199472944
|
|
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser)
|
rs121912507
|
|
NM_000238.4(KCNH2):c.1886A>G (p.Asn629Ser)
|
rs199472957
|
|
NM_000238.4(KCNH2):c.206T>C (p.Leu69Pro)
|
rs199473665
|
|
NM_000238.4(KCNH2):c.232G>A (p.Ala78Thr)
|
rs199472848
|
|
NM_000238.4(KCNH2):c.2959_2960del (p.Leu987fs)
|
rs748706373
|
|
NM_000238.4(KCNH2):c.3099dup (p.Pro1034fs)
|
|
|
NM_000238.4(KCNH2):c.817C>T (p.Arg273Ter)
|
rs552583527
|
|
NM_000252.2(MTM1):c.-76_-11del
|
|
|
NM_000252.3(MTM1):c.1205G>T (p.Gly402Val)
|
|
|
NM_000252.3(MTM1):c.153C>A (p.Tyr51Ter)
|
rs2148434034
|
|
NM_000252.3(MTM1):c.226G>T (p.Glu76Ter)
|
rs1057516031
|
|
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys)
|
rs606231324
|
|
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu)
|
rs727504310
|
|
NM_000264.5(PTCH1):c.1603-2A>G
|
rs1064793921
|
|
NM_000266.4(NDP):c.223_224dup (p.Glu76fs)
|
|
|
NM_000268.4(NF2):c.592C>T (p.Arg198Ter)
|
rs1555993345
|
|
NM_000271.5(NPC1):c.721C>T (p.Gln241Ter)
|
rs1064795718
|
|
NM_000272.5(NPHP1):c.(?_-45)_(*443_?)del
|
|
|
NM_000273.3(GPR143):c.36del (p.Thr13fs)
|
|
|
NM_000275.3(OCA2):c.1248dup (p.Leu417fs)
|
|
|
NM_000276.4(OCRL):c.1210C>T (p.Gln404Ter)
|
|
|
NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter)
|
rs387906484
|
|
NM_000276.4(OCRL):c.2581G>A (p.Ala861Thr)
|
|
|
NM_000277.3(PAH):c.357del (p.Trp120fs)
|
rs794727619
|
|
NM_000282.4(PCCA):c.217G>T (p.Glu73Ter)
|
rs2152278559
|
|
NM_000284.4(PDHA1):c.483C>T (p.Tyr161=)
|
rs398123300
|
|
NM_000284.4(PDHA1):c.628A>G (p.Met210Val)
|
rs794727843
|
|
NM_000284.4(PDHA1):c.934_940del (p.Ser312fs)
|
rs606231185
|
|
NM_000297.4(PKD2):c.110del (p.Gly37fs)
|
rs2110080128
|
|
NM_000297.4(PKD2):c.1197del (p.Glu400fs)
|
rs2110112181
|
|
NM_000297.4(PKD2):c.1349G>A (p.Gly450Asp)
|
rs1578135842
|
|
NM_000297.4(PKD2):c.1774C>T (p.Arg592Ter)
|
rs1553926905
|
|
NM_000297.4(PKD2):c.2159dup (p.Asn720fs)
|
rs757757289
|
|
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter)
|
rs778235410
|
|
NM_000297.4(PKD2):c.2522+1_2522+2del
|
rs1720863460
|
|
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter)
|
rs755226061
|
|
NM_000297.4(PKD2):c.709+1G>A
|
rs398123308
|
|
NM_000308.4(CTSA):c.946C>T (p.Gln316Ter)
|
rs200565348
|
|
NM_000310.4(PPT1):c.169dup (p.Met57fs)
|
rs386833634
|
|
NM_000313.4(PROS1):c.1764_1765del (p.Pro589fs)
|
rs2107125195
|
|
NM_000314.8(PTEN):c.103A>G (p.Met35Val)
|
rs876659443
|
|
NM_000314.8(PTEN):c.140G>A (p.Arg47Lys)
|
rs1057518425
|
|
NM_000314.8(PTEN):c.253+1G>A
|
rs587776667
|
|
NM_000314.8(PTEN):c.371G>A (p.Cys124Tyr)
|
rs876660535
|
|
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln)
|
rs121909229
|
|
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp)
|
rs121909241
|
|
NM_000314.8(PTEN):c.397G>A (p.Val133Ile)
|
rs1859977307
|
|
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg)
|
rs786201044
|
|
NM_000314.8(PTEN):c.494G>A (p.Gly165Glu)
|
rs786204863
|
|
NM_000314.8(PTEN):c.548dup (p.Asn184fs)
|
rs1554900593
|
|
NM_000314.8(PTEN):c.658_659dup (p.Leu220_Lys221insTer)
|
rs2132276566
|
|
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu)
|
rs587782350
|
|
NM_000314.8(PTEN):c.867del (p.Lys289_Val290insTer)
|
|
|
NM_000314.8(PTEN):c.900del (p.Ile300fs)
|
rs797045904
|
|
NM_000321.3(RB1):c.606del (p.Glu204fs)
|
rs1593438023
|
|
NM_000330.4(RS1):c.103C>T (p.Gln35Ter)
|
|
|
NM_000335.5(SCN5A):c.1231G>A (p.Val411Met)
|
rs72549410
|
|
NM_000335.5(SCN5A):c.4471AAG[1] (p.Lys1492del)
|
rs869025522
|
|
NM_000338.3(SLC12A1):c.1966C>T (p.Gln656Ter)
|
|
|
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del)
|
rs769664228
|
|
NM_000344.4(SMN1):c.291del (p.Lys97fs)
|
rs2112806309
|
|
NM_000344.4(SMN1):c.549del (p.Lys184fs)
|
rs2112806512
|
|
NM_000344.4(SMN1):c.785G>T (p.Ser262Ile)
|
rs1554066659
|
|
NM_000344.4(SMN1):c.815A>G (p.Tyr272Cys)
|
rs104893922
|
|
NM_000346.4(SOX9):c.218T>C (p.Ile73Thr)
|
rs2143238589
|
|
NM_000346.4(SOX9):c.517A>T (p.Lys173Ter)
|
rs104894647
|
|
NM_000348.4(SRD5A2):c.164T>C (p.Leu55Pro)
|
rs121434245
|
|
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp)
|
rs61748529
|
|
NM_000350.3(ABCA4):c.4981del (p.Pro1660_Leu1661insTer)
|
rs2101022823
|
|
NM_000352.6(ABCC8):c.3773dup (p.Val1259fs)
|
rs2133411551
|
|
NM_000363.5(TNNI3):c.433C>G (p.Arg145Gly)
|
rs104894724
|
|
NM_000368.5(TSC1):c.2096del (p.His699fs)
|
|
|
NM_000368.5(TSC1):c.682C>T (p.Arg228Ter)
|
rs118203427
|
|
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu)
|
rs773970123
|
|
NM_000372.5(TYR):c.1237del (p.Glu413fs)
|
rs1565423615
|
|
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn)
|
rs1064793293
|
|
NM_000377.3(WAS):c.257G>A (p.Arg86His)
|
rs132630268
|
|
NM_000379.4(XDH):c.140dup (p.Cys48fs)
|
rs773456900
|
|
NM_000380.4(XPA):c.640dup (p.Met214fs)
|
|
|
NM_000380.4(XPA):c.759dup (p.Asp254fs)
|
|
|
NM_000388.4(CASR):c.554G>A (p.Arg185Gln)
|
rs104893689
|
|
NM_000390.4(CHM):c.1584_1587del (p.Val529fs)
|
rs587776746
|
|
NM_000390.4(CHM):c.751_752del (p.Asn250_Val251insTer)
|
|
|
NM_000390.4(CHM):c.941-1G>A
|
|
|
NM_000390.4(CHM):c.999_1000insT (p.Gln334fs)
|
|
|
NM_000391.4(TPP1):c.1012C>G (p.Gln338Glu)
|
|
|
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp)
|
rs750428882
|
|
NM_000393.5(COL5A2):c.1401G>A (p.Pro467=)
|
rs1553515794
|
|
NM_000397.4(CYBB):c.1314+1G>C
|
rs2146818103
|
|
NM_000397.4(CYBB):c.925G>A (p.Glu309Lys)
|
rs151344466
|
|
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)
|
rs137852314
|
|
NM_000404.4(GLB1):c.1077del (p.Val360fs)
|
rs727503952
|
|
NM_000404.4(GLB1):c.390G>A (p.Trp130Ter)
|
rs2125548643
|
|
NM_000404.4(GLB1):c.733+6T>C
|
|
|
NM_000405.5(GM2A):c.209del (p.Gly70fs)
|
rs2114032531
|
|
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His)
|
rs1554068136
|
|
NM_000414.4(HSD17B4):c.31dup (p.Val11fs)
|
|
|
NM_000422.3(KRT17):c.281G>A (p.Arg94His)
|
rs28928897
|
|
NM_000426.4(LAMA2):c.442del (p.Arg148fs)
|
|
|
NM_000427.3(LORICRIN):c.515dup (p.Gly173fs)
|
|
|
NM_000435.3(NOTCH3):c.6405_6406del (p.Leu2137fs)
|
|
|
NM_000435.3(NOTCH3):c.994C>T (p.Arg332Cys)
|
rs137852641
|
|
NM_000440.3(PDE6A):c.1960C>T (p.Gln654Ter)
|
rs1581166539
|
|
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del)
|
rs111033306
|
|
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs)
|
rs786204450
|
|
NM_000441.2(SLC26A4):c.1829C>A (p.Ser610Ter)
|
rs1562839439
|
|
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn)
|
rs397516427
|
|
NM_000441.2(SLC26A4):c.664G>A (p.Gly222Ser)
|
|
|
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)
|
rs111033256
|
|
NM_000444.6(PHEX):c.1972dup (p.Arg658fs)
|
|
|
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter)
|
rs886041227
|
|
NM_000458.4(HNF1B):c.187del (p.His63fs)
|
rs2034117925
|
|
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
|
|
|
NM_000458.4(HNF1B):c.481A>T (p.Lys161Ter)
|
rs2033928772
|
|
NM_000458.4(HNF1B):c.529C>T (p.Arg177Ter)
|
|
|
NM_000458.4(HNF1B):c.544+3_544+6del
|
|
|
NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)
|
|
|
NM_000458.4(HNF1B):c.61dup (p.Val21fs)
|
rs2034124973
|
|
NM_000458.4(HNF1B):c.628del (p.Ser210fs)
|
rs2147553490
|
|
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)
|
|
|
NM_000466.3(PEX1):c.2396dup (p.Ser800fs)
|
rs778871894
|
|
NM_000466.3(PEX1):c.2916del (p.Gly973fs)
|
rs61750426
|
|
NM_000466.3(PEX1):c.831_834del (p.Ser278fs)
|
rs2116245323
|
|
NM_000474.4(TWIST1):c.358C>G (p.Arg120Gly)
|
rs1233220987
|
|
NM_000475.5(NR0B1):c.1350del (p.Arg450fs)
|
|
|
NM_000479.5(AMH):c.1165G>T (p.Glu389Ter)
|
|
|
NM_000481.4(AMT):c.14dup (p.Ser6fs)
|
rs773988915
|
|
NM_000484.4(APP):c.2077G>C (p.Glu693Gln)
|
rs63750579
|
|
NM_000484.4(APP):c.2149G>A (p.Val717Ile)
|
rs63750264
|
|
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg)
|
rs74315471
|
|
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter)
|
rs122445108
|
|
NM_000490.5(AVP):c.347G>A (p.Cys116Tyr)
|
rs2148570601
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)
|
rs6471
|
|
NM_000503.6(EYA1):c.1259del (p.Leu420fs)
|
rs1809266780
|
|
NM_000503.6(EYA1):c.682C>T (p.Gln228Ter)
|
rs1563422304
|
|
NM_000527.5(LDLR):c.1244_1245del (p.Asp415fs)
|
|
|
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
|
|
|
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)
|
rs121908028
|
|
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)
|
rs80338680
|
|
NM_000531.6(OTC):c.622G>A (p.Ala208Thr)
|
rs72558416
|
|
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu)
|
rs193922572
|
|
NM_000540.3(RYR1):c.5989G>A (p.Glu1997Lys)
|
rs1366464512
|
|
NM_000545.8(HNF1A):c.335C>T (p.Pro112Leu)
|
rs137853243
|
|
NM_000545.8(HNF1A):c.872dup (p.Gly292fs)
|
rs587776825
|
|
NM_000548.5(TSC2):c.136A>T (p.Arg46Ter)
|
rs137854266
|
|
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp)
|
rs397514914
|
|
NM_000548.5(TSC2):c.3397+4A>G
|
|
|
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp)
|
rs45517412
|
|
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)
|
rs137854218
|
|
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)
|
rs61749370
|
|
NM_000642.3(AGL):c.1020del (p.Glu340fs)
|
rs1651357012
|
|
NM_000642.3(AGL):c.3179C>G (p.Ser1060Ter)
|
rs774926455
|
|
NM_000701.8(ATP1A1):c.1798C>G (p.Pro600Ala)
|
rs1553192091
|
|
NM_000719.7(CACNA1C):c.1159dup (p.Thr387fs)
|
rs2154577568
|
|
NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys)
|
rs786205748
|
|
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu)
|
rs28931591
|
|
NM_000810.4(GABRA5):c.902C>T (p.Thr301Met)
|
rs1595438268
|
|
NM_000814.6(GABRB3):c.929T>G (p.Leu310Arg)
|
|
|
NM_000815.5(GABRD):c.778C>G (p.Leu260Val)
|
|
|
NM_000834.5(GRIN2B):c.1844A>G (p.Asn615Ser)
|
|
|
NM_000834.5(GRIN2B):c.2539C>T (p.Arg847Ter)
|
rs879253931
|
|
NM_000834.5(GRIN2B):c.99dup (p.Ser34fs)
|
rs398122823
|
|
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His)
|
rs786205820
|
|
NM_000944.5(PPP3CA):c.844G>A (p.Glu282Lys)
|
rs1553923787
|
|
NM_001002295.2(GATA3):c.1099C>T (p.Arg367Ter)
|
rs104894164
|
|
NM_001002295.2(GATA3):c.431dup (p.His145fs)
|
rs1588377948
|
|
NM_001002295.2(GATA3):c.790T>A (p.Cys264Ser)
|
rs767074039
|
|
NM_001002295.2(GATA3):c.896G>T (p.Arg299Leu)
|
rs2131501118
|
|
NM_001002295.2(GATA3):c.924+1G>A
|
|
|
NM_001002295.2(GATA3):c.961T>A (p.Cys321Ser)
|
rs1832898282
|
|
NM_001003694.2(BRPF1):c.1217dup (p.Tyr406Ter)
|
|
|
NM_001003694.2(BRPF1):c.1433G>A (p.Trp478Ter)
|
rs2125501418
|
|
NM_001004334.4(GPR179):c.984del (p.Ser329fs)
|
rs770066665
|
|
NM_001005242.3(PKP2):c.152_153del (p.Val51fs)
|
rs1957127435
|
|
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs)
|
rs397517021
|
|
NM_001005242.3(PKP2):c.253_256del (p.Glu85fs)
|
rs786204388
|
|
NM_001005242.3(PKP2):c.582T>G (p.Tyr194Ter)
|
rs532048791
|
|
NM_001005273.3(CHD3):c.2785C>T (p.Leu929Phe)
|
|
|
NM_001005273.3(CHD3):c.4507C>T (p.Gln1503Ter)
|
|
|
NM_001008537.3(NEXMIF):c.348dup (p.Glu117Ter)
|
|
|
NM_001009944.3(PKD1):c.10008_10009dup (p.Tyr3337fs)
|
|
|
NM_001009944.3(PKD1):c.10087C>T (p.Gln3363Ter)
|
rs2151729320
|
|
NM_001009944.3(PKD1):c.10118C>A (p.Ser3373Ter)
|
|
|
NM_001009944.3(PKD1):c.10167+25_10167+43del
|
rs1197421698
|
|
NM_001009944.3(PKD1):c.10280dup (p.Ser3428fs)
|
rs2151726918
|
|
NM_001009944.3(PKD1):c.10459dup (p.Thr3487fs)
|
rs2151725680
|
|
NM_001009944.3(PKD1):c.10583G>A (p.Trp3528Ter)
|
rs1057516041
|
|
NM_001009944.3(PKD1):c.10724G>A (p.Trp3575Ter)
|
rs1361283193
|
|
NM_001009944.3(PKD1):c.10748del (p.Gly3583fs)
|
rs2151708652
|
|
NM_001009944.3(PKD1):c.11538-2A>C
|
|
|
NM_001009944.3(PKD1):c.11623del (p.Ala3875fs)
|
rs2151695526
|
|
NM_001009944.3(PKD1):c.11693C>A (p.Ser3898Ter)
|
rs2091572700
|
|
NM_001009944.3(PKD1):c.11935C>T (p.Gln3979Ter)
|
|
|
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter)
|
rs766551411
|
|
NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter)
|
rs777269070
|
|
NM_001009944.3(PKD1):c.12057_12061dup (p.Arg4021fs)
|
|
|
NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter)
|
rs764431330
|
|
NM_001009944.3(PKD1):c.12444+1G>A
|
rs2091431794
|
|
NM_001009944.3(PKD1):c.12596_12612del (p.Val4199fs)
|
|
|
NM_001009944.3(PKD1):c.12657dup (p.Glu4220fs)
|
rs2151676915
|
|
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter)
|
rs755496450
|
|
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter)
|
rs1045675831
|
|
NM_001009944.3(PKD1):c.12721C>T (p.Gln4241Ter)
|
rs2091391674
|
|
NM_001009944.3(PKD1):c.1385+1G>T
|
|
|
NM_001009944.3(PKD1):c.165_171del (p.Leu56fs)
|
rs1555462438
|
|
NM_001009944.3(PKD1):c.1660C>T (p.Gln554Ter)
|
|
|
NM_001009944.3(PKD1):c.1987C>T (p.Gln663Ter)
|
|
|
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs)
|
rs1567212531
|
|
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.2968_2969delinsT (p.Ala990fs)
|
|
|
NM_001009944.3(PKD1):c.3381_3387dup (p.Ala1130fs)
|
|
|
NM_001009944.3(PKD1):c.3812_3813del (p.Thr1271fs)
|
|
|
NM_001009944.3(PKD1):c.3883G>T (p.Glu1295Ter)
|
rs780119305
|
|
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs)
|
rs1596560540
|
|
NM_001009944.3(PKD1):c.4105dup (p.His1369fs)
|
|
|
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter)
|
rs1567200516
|
|
NM_001009944.3(PKD1):c.4444C>T (p.Gln1482Ter)
|
rs1567200117
|
|
NM_001009944.3(PKD1):c.4617G>A (p.Trp1539Ter)
|
rs2151796950
|
|
NM_001009944.3(PKD1):c.4650dup (p.Leu1551fs)
|
|
|
NM_001009944.3(PKD1):c.4795dup (p.Tyr1599fs)
|
|
|
NM_001009944.3(PKD1):c.4888C>T (p.Gln1630Ter)
|
|
|
NM_001009944.3(PKD1):c.4919_4925dup (p.Tyr1643fs)
|
|
|
NM_001009944.3(PKD1):c.5776del (p.Ala1926fs)
|
rs2092444151
|
|
NM_001009944.3(PKD1):c.6115del (p.Gln2039fs)
|
|
|
NM_001009944.3(PKD1):c.6137del (p.Leu2046fs)
|
rs2092433875
|
|
NM_001009944.3(PKD1):c.6288_6289del (p.Phe2096fs)
|
|
|
NM_001009944.3(PKD1):c.6394TTC[1] (p.Phe2133del)
|
rs1555454460
|
|
NM_001009944.3(PKD1):c.6795C>G (p.Tyr2265Ter)
|
rs1312494071
|
|
NM_001009944.3(PKD1):c.7008C>G (p.Tyr2336Ter)
|
rs2092401442
|
|
NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg)
|
rs1567187445
|
|
NM_001009944.3(PKD1):c.7113_7114dup (p.Ser2372fs)
|
|
|
NM_001009944.3(PKD1):c.7139_7145del (p.Glu2380fs)
|
rs2092356759
|
|
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys)
|
rs797044902
|
|
NM_001009944.3(PKD1):c.7642G>T (p.Glu2548Ter)
|
rs28369051
|
|
NM_001009944.3(PKD1):c.7816C>T (p.Gln2606Ter)
|
rs2092321142
|
|
NM_001009944.3(PKD1):c.7833_7835del (p.Tyr2611_Ser2612delinsTer)
|
|
|
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys)
|
rs1452322332
|
|
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup)
|
rs1596527370
|
|
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys)
|
rs2092203712
|
|
NM_001009944.3(PKD1):c.8327_8339dup (p.Glu2780fs)
|
|
|
NM_001009944.3(PKD1):c.8645G>A (p.Trp2882Ter)
|
|
|
NM_001009944.3(PKD1):c.9051C>A (p.Tyr3017Ter)
|
|
|
NM_001009944.3(PKD1):c.9383G>A (p.Trp3128Ter)
|
|
|
NM_001009944.3(PKD1):c.9683dup (p.Leu3229fs)
|
rs2151740671
|
|
NM_001009944.3(PKD1):c.9874del (p.Leu3292fs)
|
|
|
NM_001010867.4(IBA57):c.262dup (p.Ala88fs)
|
rs1558123212
|
|
NM_001010867.4(IBA57):c.292del (p.His98fs)
|
|
|
NM_001012339.3(DNAJC21):c.673G>T (p.Glu225Ter)
|
rs556917839
|
|
NM_001018005.2(TPM1):c.188C>T (p.Ala63Val)
|
rs199476306
|
|
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn)
|
rs397516373
|
|
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys)
|
rs199476315
|
|
NM_001024630.4(RUNX2):c.673C>T (p.Arg225Trp)
|
rs104893992
|
|
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln)
|
rs104893991
|
|
NM_001025295.3(IFITM5):c.-14C>T
|
rs587776916
|
|
NM_001032221.6(STXBP1):c.1462-2A>C
|
|
|
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys)
|
rs796053373
|
|
NM_001032221.6(STXBP1):c.170-2A>G
|
rs1554776674
|
|
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter)
|
rs794727792
|
|
NM_001032221.6(STXBP1):c.386_393delinsATCTGA (p.Thr129fs)
|
|
|
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu)
|
rs796053353
|
|
NM_001032221.6(STXBP1):c.794+1G>A
|
rs1554777496
|
|
NM_001032221.6(STXBP1):c.795-1G>A
|
rs1554777708
|
|
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)
|
rs786205598
|
|
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs)
|
rs606231193
|
|
NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser)
|
rs1401116572
|
|
NM_001035.3(RYR2):c.13823G>A (p.Arg4608Gln)
|
rs1553328170
|
|
NM_001035.3(RYR2):c.14174A>G (p.Tyr4725Cys)
|
rs2149437479
|
|
NM_001035.3(RYR2):c.14311G>A (p.Val4771Ile)
|
rs794728804
|
|
NM_001035.3(RYR2):c.14569A>G (p.Ile4857Val)
|
rs1085307524
|
|
NM_001035.3(RYR2):c.506G>A (p.Arg169Gln)
|
rs397516539
|
|
NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val)
|
rs794728754
|
|
NM_001035.3(RYR2):c.7175A>G (p.Tyr2392Cys)
|
|
|
NM_001038.6(SCNN1A):c.148del (p.Glu50fs)
|
|
|
NM_001039591.3(USP9X):c.6991dup (p.Tyr2331fs)
|
rs2147266578
|
|
NM_001040142.2(SCN2A):c.1318G>T (p.Glu440Ter)
|
|
|
NM_001040142.2(SCN2A):c.4903C>T (p.Arg1635Ter)
|
rs1064794730
|
|
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr)
|
rs2105403536
|
|
NM_001040142.2(SCN2A):c.5644C>T (p.Arg1882Ter)
|
rs796053166
|
|
NM_001040142.2(SCN2A):c.718G>T (p.Ala240Ser)
|
rs1064795014
|
|
NM_001040616.3(LINS1):c.304del (p.Arg102fs)
|
rs760477654
|
|
NM_001042424.3(NSD2):c.4028del (p.Pro1343fs)
|
rs752037034
|
|
NM_001042492.3(NF1):c.2342A>C (p.His781Pro)
|
rs199474763
|
|
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs)
|
rs1321848637
|
|
NM_001042492.3(NF1):c.3545T>C (p.Val1182Ala)
|
rs2067142076
|
|
NM_001042492.3(NF1):c.3579T>A (p.Phe1193Leu)
|
|
|
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter)
|
rs137854562
|
|
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly)
|
rs199474742
|
|
NM_001042492.3(NF1):c.4195C>T (p.Gln1399Ter)
|
rs1131691072
|
|
NM_001042492.3(NF1):c.6686_6687insT (p.Trp2229fs)
|
rs2151557502
|
|
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter)
|
rs876658541
|
|
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter)
|
rs772295894
|
|
NM_001042492.3(NF1):c.731-5T>G
|
rs1597659721
|
|
NM_001042492.3(NF1):c.789dup (p.Ala264fs)
|
|
|
NM_001042492.3(NF1):c.8135G>A (p.Trp2712Ter)
|
|
|
NM_001042681.2(RERE):c.4307TCCACC[3] (p.1436LH[3])
|
rs1064793252
|
|
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs)
|
rs751952525
|
|
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu)
|
rs104895271
|
|
NM_001077350.3(NPRL3):c.1375_1376dup (p.Ser460fs)
|
rs886037960
|
|
NM_001079668.3(NKX2-1):c.613G>T (p.Glu205Ter)
|
rs137852693
|
|
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)
|
rs398123555
|
|
NM_001080453.3(INTS1):c.5572C>T (p.Arg1858Ter)
|
rs2128532901
|
|
NM_001080467.3(MYO5B):c.4905del (p.Thr1636fs)
|
rs1555793199
|
|
NM_001080476.3(GRXCR1):c.550G>T (p.Glu184Ter)
|
rs2109775078
|
|
NM_001080477.4(TENM3):c.2279G>A (p.Trp760Ter)
|
rs2152678398
|
|
NM_001080510.5(METTL23):c.169_172del (p.His57fs)
|
rs587777644
|
|
NM_001080510.5(METTL23):c.322+2dup
|
|
|
NM_001080517.3(SETD5):c.1741_1742del (p.Gln581fs)
|
rs1131691711
|
|
NM_001080517.3(SETD5):c.1852C>T (p.Arg618Ter)
|
rs1218918142
|
|
NM_001080517.3(SETD5):c.2279C>A (p.Ser760Ter)
|
rs1553626575
|
|
NM_001080517.3(SETD5):c.588_591del (p.Gln196fs)
|
|
|
NM_001080517.3(SETD5):c.960-5C>G
|
rs2125193661
|
|
NM_001080522.2(CC2D2A):c.3289delG
|
rs386833751
|
|
NM_001081.4(CUBN):c.6894_6901dup (p.Leu2301Ter)
|
|
|
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys)
|
rs1556302160
|
|
NM_001082538.3(TCTN1):c.378_381dup (p.Ser128fs)
|
|
|
NM_001082971.2(DDC):c.1339C>T (p.Arg447Cys)
|
|
|
NM_001083961.2(WDR62):c.2984C>G (p.Ser995Ter)
|
|
|
NM_001083961.2(WDR62):c.3863G>A (p.Trp1288Ter)
|
|
|
NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter)
|
rs121909122
|
|
NM_001083962.2(TCF4):c.1356del (p.Thr453fs)
|
|
|
NM_001085049.3(MRAS):c.212A>G (p.Gln71Arg)
|
rs1576387885
|
|
NM_001085487.3(MYSM1):c.1516C>T (p.Arg506Ter)
|
|
|
NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu)
|
rs886041309
|
|
NM_001101.5(ACTB):c.209C>T (p.Pro70Leu)
|
rs587779769
|
|
NM_001101.5(ACTB):c.547C>T (p.Arg183Trp)
|
rs104894003
|
|
NM_001101426.4(CRPPA):c.258-2A>G
|
|
|
NM_001101426.4(CRPPA):c.54_55delinsTGC (p.Ser19fs)
|
rs2128321525
|
|
NM_001110792.2(MECP2):c.1122dup (p.Lys375fs)
|
rs587783092
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
NM_001111125.3(IQSEC2):c.1483C>T (p.Gln495Ter)
|
rs2147103761
|
|
NM_001111125.3(IQSEC2):c.1507dup (p.Glu503fs)
|
|
|
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=)
|
rs1602260263
|
|
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu)
|
rs606231451
|
|
NM_001114753.3(ENG):c.1195del (p.Arg399fs)
|
rs1131691444
|
|
NM_001114753.3(ENG):c.1429-1G>A
|
rs2131876244
|
|
NM_001114753.3(ENG):c.1465C>T (p.Gln489Ter)
|
rs1057521648
|
|
NM_001114753.3(ENG):c.1470dup (p.Asp491fs)
|
rs1830385077
|
|
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter)
|
rs886039506
|
|
NM_001114753.3(ENG):c.771del (p.Tyr258fs)
|
rs1588581902
|
|
NM_001114753.3(ENG):c.774C>A (p.Tyr258Ter)
|
rs537154767
|
|
NM_001114753.3(ENG):c.808C>T (p.Gln270Ter)
|
rs1554810215
|
|
NM_001114753.3(ENG):c.934del (p.Ala312fs)
|
rs2131886908
|
|
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)
|
rs1060501410
|
|
NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp)
|
rs121918324
|
|
NM_001123385.2(BCOR):c.3165_3166delinsC (p.Lys1055fs)
|
|
|
NM_001126108.2(SLC12A3):c.1258_1262del (p.Ala420fs)
|
rs2144711571
|
|
NM_001126108.2(SLC12A3):c.237_238dup (p.Arg80fs)
|
rs780299444
|
|
NM_001126108.2(SLC12A3):c.35dup (p.Asp12fs)
|
rs1964322654
|
|
NM_001127178.3(PIGG):c.1193C>G (p.Ser398Ter)
|
|
|
NM_001127178.3(PIGG):c.1956G>A (p.Trp652Ter)
|
|
|
NM_001127222.2(CACNA1A):c.1538G>A (p.Trp513Ter)
|
rs2058143736
|
|
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln)
|
rs1555745467
|
|
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter)
|
rs121909324
|
|
NM_001127222.2(CACNA1A):c.5021del (p.Gly1674fs)
|
|
|
NM_001127392.3(MYRF):c.789del (p.Ser264fs)
|
rs769274302
|
|
NM_001127898.4(CLCN5):c.1012G>T (p.Glu338Ter)
|
rs1933873534
|
|
NM_001127898.4(CLCN5):c.1249C>T (p.Arg417Ter)
|
rs797044810
|
|
NM_001127898.4(CLCN5):c.1329dup (p.Asn444fs)
|
rs1933898062
|
|
NM_001127898.4(CLCN5):c.1441A>T (p.Lys481Ter)
|
rs1933903437
|
|
NM_001127898.4(CLCN5):c.1452del (p.Glu484fs)
|
|
|
NM_001128228.3(TPRN):c.943dup (p.Leu315fs)
|
|
|
NM_001130438.3(SPTAN1):c.2988dup (p.Leu997fs)
|
rs2131267665
|
|
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del)
|
rs587784438
|
|
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys)
|
rs397516607
|
|
NM_001134407.3(GRIN2A):c.1007+1G>A
|
rs397518465
|
|
NM_001134407.3(GRIN2A):c.1939G>T (p.Ala647Ser)
|
rs2042447850
|
|
NM_001134673.4(NFIA):c.248del (p.Ile83fs)
|
rs2100414350
|
|
NM_001134831.2(AHI1):c.1420del (p.Ile474fs)
|
rs1369440486
|
|
NM_001135629.3(PPP1R21):c.2063del (p.Lys688fs)
|
rs1670430380
|
|
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs)
|
rs527236065
|
|
NM_001142800.2(EYS):c.9036del (p.Leu3013fs)
|
rs1225304963
|
|
NM_001142800.2(EYS):c.9166_9167delinsCCTCCC (p.Ile3056fs)
|
|
|
NM_001143981.2(CHRDL1):c.520dup (p.Ser174fs)
|
rs1057516043
|
|
NM_001145358.2(SIN3A):c.1411C>T (p.Arg471Ter)
|
|
|
NM_001159699.2(FHL1):c.613_614del (p.Val205fs)
|
rs1569530588
|
|
NM_001160372.4(TRAPPC9):c.175del (p.His59fs)
|
|
|
NM_001163435.3(TBCK):c.1370dup (p.Asn457fs)
|
rs746860249
|
|
NM_001163809.2(WDR81):c.3843C>A (p.Tyr1281Ter)
|
rs2151169266
|
|
NM_001164277.2(SLC37A4):c.1124+1G>C
|
rs782630676
|
|
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs)
|
rs1447366650
|
|
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs)
|
rs1266535163
|
|
NM_001164508.2(NEB):c.9465del (p.Ile3156fs)
|
rs1553939600
|
|
NM_001165963.4(SCN1A):c.1210del (p.Val404fs)
|
|
|
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln)
|
rs121917918
|
|
NM_001165963.4(SCN1A):c.3837T>G (p.Tyr1279Ter)
|
|
|
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter)
|
rs796053004
|
|
NM_001165963.4(SCN1A):c.4055T>C (p.Leu1352Pro)
|
rs794726821
|
|
NM_001165963.4(SCN1A):c.4094G>A (p.Gly1365Asp)
|
rs1691073965
|
|
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs)
|
rs794726726
|
|
NM_001165963.4(SCN1A):c.5765T>C (p.Ile1922Thr)
|
rs121917981
|
|
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)
|
rs121917984
|
|
NM_001170629.2(CHD8):c.2199_2200del (p.His734fs)
|
|
|
NM_001170629.2(CHD8):c.3308-2A>G
|
rs2139470242
|
|
NM_001170629.2(CHD8):c.3790_3796del (p.Glu1264fs)
|
rs2139467241
|
|
NM_001170629.2(CHD8):c.5744del (p.Pro1915fs)
|
rs2139447795
|
|
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
|
|
|
NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)
|
|
|
NM_001172509.2(SATB2):c.581_584del (p.Glu194fs)
|
|
|
NM_001172509.2(SATB2):c.728C>G (p.Ser243Ter)
|
|
|
NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter)
|
rs797044874
|
|
NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp)
|
rs121912585
|
|
NM_001174147.2(LMX1B):c.949C>T (p.Gln317Ter)
|
|
|
NM_001182.5(ALDH7A1):c.1061A>C (p.Tyr354Ser)
|
|
|
NM_001182.5(ALDH7A1):c.1468del (p.Ala490fs)
|
rs796052267
|
|
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg)
|
rs796052819
|
|
NM_001184880.2(PCDH19):c.498C>G (p.Tyr166Ter)
|
rs796052837
|
|
NM_001184880.2(PCDH19):c.619C>T (p.Arg207Ter)
|
rs796052802
|
|
NM_001190274.2(FBXO11):c.588-2A>G
|
rs2104833077
|
|
NM_001190737.2(NFIB):c.93_94del (p.Trp31fs)
|
|
|
NM_001195263.2(PDZD7):c.668del (p.Gly223fs)
|
|
|
NM_001195553.2(DCX):c.226C>T (p.Arg76Cys)
|
rs587783534
|
|
NM_001195553.2(DCX):c.479_482dup (p.Leu162fs)
|
rs2147263186
|
|
NM_001197104.2(KMT2A):c.11073dup (p.Ala3692fs)
|
|
|
NM_001197104.2(KMT2A):c.2429_2430insG (p.Glu811fs)
|
|
|
NM_001197104.2(KMT2A):c.3341C>A (p.Ser1114Ter)
|
rs1555038029
|
|
NM_001197104.2(KMT2A):c.5656_5657del (p.Ser1886fs)
|
|
|
NM_001197104.2(KMT2A):c.6445C>T (p.Arg2149Ter)
|
rs781843315
|
|
NM_001197104.2(KMT2A):c.7753del (p.Asp2585fs)
|
|
|
NM_001197104.2(KMT2A):c.9195del (p.Ala3066fs)
|
|
|
NM_001242882.2(NAXD):c.54_57del (p.Ala20fs)
|
rs773887880
|
|
NM_001242896.3(DEPDC5):c.1264C>T (p.Arg422Ter)
|
rs757511744
|
|
NM_001242896.3(DEPDC5):c.1555C>T (p.Gln519Ter)
|
rs886039261
|
|
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter)
|
rs1569067939
|
|
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)
|
rs587779388
|
|
NM_001256071.3(RNF213):c.12353C>T (p.Ser4118Phe)
|
rs2079443410
|
|
NM_001256789.3(CACNA1F):c.1855del (p.Leu619fs)
|
rs2147916504
|
|
NM_001256789.3(CACNA1F):c.2504del (p.Pro835fs)
|
rs2147910175
|
|
NM_001257180.2(SLC20A2):c.1438_1439del (p.Ala480fs)
|
|
|
NM_001257180.2(SLC20A2):c.1802C>T (p.Ser601Leu)
|
rs387906652
|
|
NM_001271.4(CHD2):c.3937C>G (p.Arg1313Gly)
|
|
|
NM_001273.5(CHD4):c.3529C>T (p.Arg1177Cys)
|
rs2136209186
|
|
NM_001273.5(CHD4):c.4018C>T (p.Arg1340Cys)
|
|
|
NM_001276345.2(TNNT2):c.310C>A (p.Arg104Ser)
|
|
|
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp)
|
rs74315379
|
|
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del)
|
rs45578238
|
|
NM_001277115.2(DNAH11):c.3910del (p.Arg1304fs)
|
|
|
NM_001277115.2(DNAH11):c.7999C>T (p.Gln2667Ter)
|
|
|
NM_001278116.2(L1CAM):c.1703+5G>A
|
|
|
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu)
|
rs137852526
|
|
NM_001278293.3(ARL6):c.534A>G (p.Gln178=)
|
|
|
NM_001278716.2(FBXL4):c.486T>A (p.Tyr162Ter)
|
rs1562245046
|
|
NM_001282225.2(ADA2):c.140G>T (p.Gly47Val)
|
rs200930463
|
|
NM_001282531.3(ADNP):c.2157C>G (p.Tyr719Ter)
|
rs587777526
|
|
NM_001282531.3(ADNP):c.2212dup (p.Ser738fs)
|
|
|
NM_001282531.3(ADNP):c.2483dup (p.Met828fs)
|
|
|
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs)
|
rs587777523
|
|
NM_001282531.3(ADNP):c.2865_2868del (p.Ser955fs)
|
rs1980777288
|
|
NM_001282534.2(KCNK9):c.706G>A (p.Gly236Arg)
|
rs121908332
|
|
NM_001289104.2(PRKCSH):c.1191dup (p.Ile398fs)
|
rs1970419486
|
|
NM_001291415.2(KDM6A):c.1164del (p.Ala389fs)
|
|
|
NM_001291415.2(KDM6A):c.2379dup (p.Ala794fs)
|
|
|
NM_001291415.2(KDM6A):c.514C>T (p.Arg172Ter)
|
rs189751539
|
|
NM_001291867.2(NHS):c.2450dup (p.Ser818fs)
|
rs786205255
|
|
NM_001292034.3(TAB2):c.1462dup (p.Thr488fs)
|
|
|
NM_001292063.2(OTOG):c.2523T>A (p.Tyr841Ter)
|
|
|
NM_001292063.2(OTOG):c.5472del (p.Ala1826fs)
|
rs1029389440
|
|
NM_001303052.2(MYT1L):c.1585G>A (p.Gly529Arg)
|
rs1275489527
|
|
NM_001303052.2(MYT1L):c.2221_2230del (p.Thr741fs)
|
rs1253072668
|
|
NM_001303256.3(MORC2):c.79G>A (p.Glu27Lys)
|
rs1602510200
|
|
NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His)
|
rs587777011
|
|
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys)
|
rs1567203083
|
|
NM_001318852.2(MAPK8IP3):c.3439C>T (p.Arg1147Cys)
|
rs1567214097
|
|
NM_001321075.3(DLG4):c.1512dup (p.Lys505fs)
|
|
|
NM_001321075.3(DLG4):c.410_411del (p.Leu137fs)
|
rs2142885592
|
|
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter)
|
rs267608643
|
|
NM_001323289.2(CDKL5):c.456_457del (p.Cys152_Asp153delinsTer)
|
|
|
NM_001323289.2(CDKL5):c.786C>A (p.Tyr262Ter)
|
rs1555951146
|
|
NM_001329943.3(KIAA0586):c.790C>T (p.Gln264Ter)
|
rs1057516038
|
|
NM_001347721.2(DYRK1A):c.286A>T (p.Lys96Ter)
|
|
|
NM_001347721.2(DYRK1A):c.638-9_638-5del
|
|
|
NM_001348323.3(TRIP12):c.3490dup (p.Ile1164fs)
|
rs2043184881
|
|
NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu)
|
|
|
NM_001348716.2(KDM6B):c.496C>T (p.Arg166Ter)
|
rs2078539742
|
|
NM_001349338.3(FOXP1):c.1147-1_1161dup
|
|
|
NM_001349338.3(FOXP1):c.1172_1175del (p.Leu391fs)
|
rs2037949810
|
|
NM_001349338.3(FOXP1):c.1241del (p.Leu414fs)
|
|
|
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys)
|
rs869025203
|
|
NM_001349338.3(FOXP1):c.1573C>T (p.Arg525Ter)
|
rs112795301
|
|
NM_001349338.3(FOXP1):c.1652+5G>A
|
rs794727216
|
|
NM_001349338.3(FOXP1):c.1653_1669del (p.Asn552fs)
|
rs2107156767
|
|
NM_001349338.3(FOXP1):c.482_483dup (p.Gln162fs)
|
|
|
NM_001351132.2(PEX5):c.552G>A (p.Trp184Ter)
|
rs1419213790
|
|
NM_001352027.3(PHF21A):c.1032_1035del (p.Thr345fs)
|
rs2092369866
|
|
NM_001354604.2(MITF):c.961C>T (p.Arg321Ter)
|
rs104893746
|
|
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys)
|
rs1555954284
|
|
NM_001356.5(DDX3X):c.229_230dup (p.Asp77fs)
|
|
|
NM_001358530.2(MOCS1):c.722del (p.Leu241fs)
|
rs397518418
|
|
NM_001360.3(DHCR7):c.1228G>C (p.Gly410Arg)
|
rs80338862
|
|
NM_001360.3(DHCR7):c.740C>T (p.Ala247Val)
|
rs886041354
|
|
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu)
|
rs80338858
|
|
NM_001360.3(DHCR7):c.911G>A (p.Trp304Ter)
|
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001365276.2(TNXB):c.3763dup (p.Arg1255fs)
|
|
|
NM_001365902.3(NFIX):c.317C>T (p.Ser106Phe)
|
|
|
NM_001365902.3(NFIX):c.325G>T (p.Asp109Tyr)
|
rs2145192459
|
|
NM_001365999.1(SZT2):c.7735C>T (p.Gln2579Ter)
|
rs2153935815
|
|
NM_001366385.1(CARD14):c.349+5G>A
|
rs587777763
|
|
NM_001367561.1(DOCK7):c.4243C>T (p.Arg1415Ter)
|
|
|
NM_001367561.1(DOCK7):c.453dup (p.Gly152fs)
|
|
|
NM_001367721.1(CASK):c.2039+1G>A
|
rs2147138207
|
|
NM_001367721.1(CASK):c.305A>G (p.Glu102Gly)
|
rs1569429756
|
|
NM_001367873.1(SOX6):c.970C>T (p.Gln324Ter)
|
rs2133975843
|
|
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr)
|
rs121908333
|
|
NM_001368809.2(AMPD2):c.1198C>T (p.Gln400Ter)
|
rs1011286644
|
|
NM_001368882.1(COL13A1):c.513del (p.Gly172fs)
|
rs1564932829
|
|
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter)
|
rs886041222
|
|
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter)
|
rs775696136
|
|
NM_001369.3(DNAH5):c.3598+2T>C
|
rs981267400
|
|
NM_001370259.2(MEN1):c.1087_1089del (p.Glu363del)
|
rs869025185
|
|
NM_001370259.2(MEN1):c.402del (p.Phe134fs)
|
rs397515385
|
|
NM_001371596.2(MFSD8):c.727C>T (p.Gln243Ter)
|
|
|
NM_001371623.1(TCOF1):c.2722del (p.Arg908fs)
|
rs2150816737
|
|
NM_001371623.1(TCOF1):c.304+5G>C
|
|
|
NM_001371623.1(TCOF1):c.3047-1G>A
|
rs2151009927
|
|
NM_001371623.1(TCOF1):c.3490C>T (p.Gln1164Ter)
|
|
|
NM_001371986.1(UNC80):c.6976C>T (p.Gln2326Ter)
|
rs2124981606
|
|
NM_001372066.1(TFAP2A):c.481del (p.Val161fs)
|
|
|
NM_001374828.1(ARID1B):c.1560C>G (p.Tyr520Ter)
|
rs2114999746
|
|
NM_001374828.1(ARID1B):c.2458C>T (p.Arg820Ter)
|
rs797045272
|
|
NM_001374828.1(ARID1B):c.3532del (p.Glu1178fs)
|
|
|
NM_001374828.1(ARID1B):c.3946C>T (p.Gln1316Ter)
|
rs1554232925
|
|
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs)
|
rs1289067120
|
|
NM_001374828.1(ARID1B):c.4147_4149delinsAG (p.Tyr1383fs)
|
rs1554233122
|
|
NM_001374828.1(ARID1B):c.4395del (p.Pro1464_Tyr1465insTer)
|
|
|
NM_001374828.1(ARID1B):c.4488del (p.Lys1496fs)
|
|
|
NM_001374828.1(ARID1B):c.4522A>T (p.Lys1508Ter)
|
rs1554235505
|
|
NM_001374828.1(ARID1B):c.4911dup (p.His1638fs)
|
|
|
NM_001374828.1(ARID1B):c.5939_5942del (p.Lys1980fs)
|
rs886041706
|
|
NM_001375380.1(EBF3):c.705CAA[1] (p.Asn237del)
|
rs2134108087
|
|
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)
|
rs587780564
|
|
NM_001376571.1(MADD):c.4109T>A (p.Leu1370Ter)
|
rs2140853464
|
|
NM_001378418.1(TCF20):c.2318_2319del (p.Gln773fs)
|
rs2147212231
|
|
NM_001378418.1(TCF20):c.2380C>T (p.Gln794Ter)
|
|
|
NM_001378454.1(ALMS1):c.2912_2915del (p.Asp971fs)
|
rs1671880172
|
|
NM_001378615.1(CC2D2A):c.2164G>T (p.Glu722Ter)
|
|
|
NM_001378615.1(CC2D2A):c.2710G>T (p.Glu904Ter)
|
|
|
NM_001378615.1(CC2D2A):c.4256del (p.Gly1419fs)
|
rs772110399
|
|
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs)
|
rs797045437
|
|
NM_001384732.1(CPLANE1):c.7378C>T (p.Gln2460Ter)
|
|
|
NM_001385012.1(NBEA):c.3806del (p.Asp1269fs)
|
|
|
NM_001386298.1(CIC):c.6074dup (p.Ser2026fs)
|
|
|
NM_001393500.2(TOMT):c.100C>T (p.Arg34Ter)
|
|
|
NM_001395891.1(CLASP1):c.196-609C>T
|
rs575472572
|
|
NM_001429.4(EP300):c.2333dup (p.Asn779fs)
|
rs2145736063
|
|
NM_001430.5(EPAS1):c.1604T>C (p.Met535Thr)
|
rs2103672173
|
|
NM_001430.5(EPAS1):c.1609G>A (p.Gly537Arg)
|
rs137853036
|
|
NM_001451.3(FOXF1):c.21del (p.Lys7fs)
|
|
|
NM_001453.3(FOXC1):c.718_719del (p.Leu240fs)
|
rs1057519480
|
|
NM_001458.5(FLNC):c.1444C>T (p.Arg482Ter)
|
rs1420159591
|
|
NM_001458.5(FLNC):c.4108C>T (p.Arg1370Ter)
|
rs1342121466
|
|
NM_001466.4(FZD2):c.1644G>A (p.Trp548Ter)
|
rs1568105666
|
|
NM_001540.5(HSPB1):c.544C>T (p.Pro182Ser)
|
rs104894020
|
|
NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln)
|
rs112602953
|
|
NM_001613.4(ACTA2):c.535C>T (p.Arg179Cys)
|
rs886039303
|
|
NM_001613.4(ACTA2):c.536G>A (p.Arg179His)
|
rs387906592
|
|
NM_001615.4(ACTG2):c.613G>A (p.Ala205Thr)
|
rs1057516046
|
|
NM_001615.4(ACTG2):c.632G>T (p.Arg211Leu)
|
|
|
NM_001625.4(AK2):c.84dup (p.Gly29fs)
|
rs1640610158
|
|
NM_001673.5(ASNS):c.1476+1G>A
|
rs1791258447
|
|
NM_001692.4(ATP6V1B1):c.1356del (p.Phe452fs)
|
rs782549406
|
|
NM_001692.4(ATP6V1B1):c.183del (p.Gln61fs)
|
rs1680484812
|
|
NM_001692.4(ATP6V1B1):c.343_349del (p.Thr115fs)
|
|
|
NM_001693.4(ATP6V1B2):c.1516C>T (p.Arg506Ter)
|
rs794729667
|
|
NM_001759.4(CCND2):c.808A>T (p.Lys270Ter)
|
rs587777619
|
|
NM_001844.5(COL2A1):c.1105G>C (p.Gly369Arg)
|
rs1085307657
|
|
NM_001844.5(COL2A1):c.1258G>T (p.Gly420Ter)
|
|
|
NM_001844.5(COL2A1):c.1396G>T (p.Glu466Ter)
|
|
|
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)
|
rs121912884
|
|
NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter)
|
rs121912897
|
|
NM_001844.5(COL2A1):c.2275G>C (p.Gly759Arg)
|
rs2136548994
|
|
NM_001844.5(COL2A1):c.2833G>A (p.Gly945Ser)
|
rs886039542
|
|
NM_001844.5(COL2A1):c.2920del (p.Gln974fs)
|
|
|
NM_001844.5(COL2A1):c.2941G>A (p.Gly981Ser)
|
rs2136526515
|
|
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser)
|
rs121912870
|
|
NM_001844.5(COL2A1):c.3617G>C (p.Gly1206Ala)
|
|
|
NM_001844.5(COL2A1):c.512del (p.Gly171fs)
|
|
|
NM_001844.5(COL2A1):c.565G>T (p.Glu189Ter)
|
|
|
NM_001844.5(COL2A1):c.569del (p.Lys190fs)
|
rs2136622208
|
|
NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg)
|
rs1131691822
|
|
NM_001844.5(COL2A1):c.925-1G>A
|
|
|
NM_001845.6(COL4A1):c.2626G>C (p.Gly876Arg)
|
|
|
NM_001845.6(COL4A1):c.3742+1G>A
|
rs2139156007
|
|
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter)
|
rs202107577
|
|
NM_001904.4(CTNNB1):c.1350dup (p.Val451fs)
|
rs2125639718
|
|
NM_001904.4(CTNNB1):c.1961_1962del (p.Tyr654fs)
|
|
|
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter)
|
rs748294403
|
|
NM_001904.4(CTNNB1):c.242-3C>A
|
|
|
NM_001943.5(DSG2):c.871dup (p.Thr291fs)
|
rs759944835
|
|
NM_001958.5(EEF1A2):c.1295C>T (p.Thr432Met)
|
rs2082362479
|
|
NM_001983.4(ERCC1):c.321+61_525+132del
|
|
|
NM_002016.2(FLG):c.2929C>T (p.Gln977Ter)
|
rs144419479
|
|
NM_002016.2(FLG):c.2976_2977del (p.Arg992fs)
|
rs776968118
|
|
NM_002049.4(GATA1):c.470_471del (p.Pro157fs)
|
|
|
NM_002055.5(GFAP):c.1246C>T (p.Arg416Trp)
|
rs121909717
|
|
NM_002055.5(GFAP):c.715C>T (p.Arg239Cys)
|
rs58064122
|
|
NM_002055.5(GFAP):c.772C>T (p.Arg258Cys)
|
rs797044578
|
|
NM_002055.5(GFAP):c.791T>C (p.Leu264Pro)
|
rs797044579
|
|
NM_002074.5(GNB1):c.228T>A (p.Asp76Glu)
|
rs869312822
|
|
NM_002074.5(GNB1):c.230G>A (p.Gly77Asp)
|
rs1135401746
|
|
NM_002074.5(GNB1):c.388G>A (p.Glu130Lys)
|
rs1553194155
|
|
NM_002292.4(LAMB2):c.2494C>T (p.Gln832Ter)
|
|
|
NM_002294.3(LAMP2):c.584_585insGC (p.Thr196fs)
|
|
|
NM_002336.3(LRP6):c.3332dup (p.Ser1111fs)
|
|
|
NM_002340.6(LSS):c.647G>A (p.Trp216Ter)
|
rs745734847
|
|
NM_002351.5(SH2D1A):c.251T>C (p.Ile84Thr)
|
|
|
NM_002397.5(MEF2C):c.908del (p.Leu303fs)
|
|
|
NM_002397.5(MEF2C):c.939_940del (p.Ala314fs)
|
|
|
NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter)
|
rs147334255
|
|
NM_002473.6(MYH9):c.2114G>A (p.Arg705His)
|
rs80338828
|
|
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu)
|
rs121913657
|
|
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys)
|
rs80338829
|
|
NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter)
|
rs80338835
|
|
NM_002491.3(NDUFB3):c.117del (p.Gly40_Leu41insTer)
|
rs2125534778
|
|
NM_002524.5(NRAS):c.175G>A (p.Ala59Thr)
|
rs730880965
|
|
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys)
|
rs121913254
|
|
NM_002576.5(PAK1):c.391T>A (p.Tyr131Asn)
|
rs2137081759
|
|
NM_002609.4(PDGFRB):c.1696T>C (p.Trp566Arg)
|
rs1060499542
|
|
NM_002617.4(PEX10):c.637dup (p.Ala213fs)
|
|
|
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del)
|
rs397516784
|
|
NM_002693.3(POLG):c.3538_3539dup (p.Ala1182fs)
|
|
|
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)
|
rs886037952
|
|
NM_002709.3(PPP1CB):c.658C>T (p.Arg220Cys)
|
rs1553311527
|
|
NM_002715.4(PPP2CA):c.379del (p.Tyr127fs)
|
|
|
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter)
|
rs387906692
|
|
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)
|
rs121908595
|
|
NM_002830.4(PTPN4):c.2338C>T (p.Gln780Ter)
|
rs2105059931
|
|
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr)
|
rs121918468
|
|
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu)
|
rs397507540
|
|
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu)
|
rs397507542
|
|
NM_002834.5(PTPN11):c.1505C>T (p.Ser502Leu)
|
rs397507544
|
|
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)
|
rs397507545
|
|
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)
|
rs397507547
|
|
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu)
|
rs397507549
|
|
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg)
|
rs121918470
|
|
NM_002834.5(PTPN11):c.172A>C (p.Asn58His)
|
rs397507505
|
|
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala)
|
rs397507509
|
|
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)
|
rs121918460
|
|
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)
|
rs121918466
|
|
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)
|
rs397507520
|
|
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)
|
rs267606990
|
|
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)
|
rs121918455
|
|
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)
|
rs80338796
|
|
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser)
|
rs121434594
|
|
NM_002890.3(RASA1):c.2474dup (p.Gln826fs)
|
|
|
NM_002890.3(RASA1):c.2655G>A (p.Trp885Ter)
|
rs2112500793
|
|
NM_002890.3(RASA1):c.613_617del (p.Leu205fs)
|
rs1060503441
|
|
NM_002890.3(RASA1):c.853C>T (p.Arg285Ter)
|
rs137853218
|
|
NM_003042.4(SLC6A1):c.1607del (p.Val536fs)
|
|
|
NM_003042.4(SLC6A1):c.235G>A (p.Gly79Arg)
|
rs1085307804
|
|
NM_003042.4(SLC6A1):c.919G>A (p.Gly307Arg)
|
rs1553689696
|
|
NM_003070.5(SMARCA2):c.2838A>C (p.Leu946Phe)
|
|
|
NM_003070.5(SMARCA2):c.3292G>A (p.Gly1098Ser)
|
|
|
NM_003070.5(SMARCA2):c.3313C>T (p.Arg1105Cys)
|
rs281875192
|
|
NM_003070.5(SMARCA2):c.3484C>T (p.Arg1162Cys)
|
rs1057518414
|
|
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
|
|
|
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del)
|
rs875989800
|
|
NM_003091.4(SNRPB):c.155+301G>C
|
rs786201019
|
|
NM_003104.6(SORD):c.757del (p.Ala253fs)
|
rs55901542
|
|
NM_003128.3(SPTBN1):c.4718dup (p.Trp1574fs)
|
rs2104068395
|
|
NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs)
|
rs782289759
|
|
NM_003238.6(TGFB2):c.127C>T (p.Gln43Ter)
|
|
|
NM_003238.6(TGFB2):c.896G>A (p.Arg299Gln)
|
rs1057521150
|
|
NM_003238.6(TGFB2):c.933-1G>A
|
|
|
NM_003282.4(TNNI2):c.525G>T (p.Lys175Asn)
|
rs797046046
|
|
NM_003334.4(UBA1):c.122T>C (p.Met41Thr)
|
rs782416867
|
|
NM_003361.4(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys)
|
rs878855325
|
|
NM_003470.3(USP7):c.701dup (p.Thr235fs)
|
|
|
NM_003482.4(KMT2D):c.10198C>T (p.Gln3400Ter)
|
|
|
NM_003482.4(KMT2D):c.11119C>T (p.Arg3707Ter)
|
|
|
NM_003482.4(KMT2D):c.12268C>T (p.Gln4090Ter)
|
rs1555188155
|
|
NM_003482.4(KMT2D):c.1248del (p.Lys417fs)
|
|
|
NM_003482.4(KMT2D):c.14059C>T (p.Gln4687Ter)
|
|
|
NM_003482.4(KMT2D):c.14075+1G>A
|
rs1057516039
|
|
NM_003482.4(KMT2D):c.14710C>T (p.Arg4904Ter)
|
rs398123721
|
|
NM_003482.4(KMT2D):c.15079C>T (p.Arg5027Ter)
|
rs797045659
|
|
NM_003482.4(KMT2D):c.16052G>A (p.Arg5351Gln)
|
rs1555185217
|
|
NM_003482.4(KMT2D):c.3190del (p.Val1064fs)
|
|
|
NM_003482.4(KMT2D):c.4168dup (p.Ala1390fs)
|
rs756471180
|
|
NM_003482.4(KMT2D):c.437C>A (p.Ser146Ter)
|
|
|
NM_003482.4(KMT2D):c.7997_8003dup (p.Met2669fs)
|
|
|
NM_003542.4(H4C3):c.274A>G (p.Lys92Glu)
|
rs1763200003
|
|
NM_003590.5(CUL3):c.578T>G (p.Leu193Ter)
|
rs2106220962
|
|
NM_003590.5(CUL3):c.652C>T (p.Gln218Ter)
|
|
|
NM_003611.3(OFD1):c.710dup (p.Tyr238fs)
|
rs312262845
|
|
NM_003620.4(PPM1D):c.1221T>A (p.Cys407Ter)
|
rs189669693
|
|
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser)
|
rs878853160
|
|
NM_003742.4(ABCB11):c.1243C>T (p.Arg415Ter)
|
rs913644236
|
|
NM_003797.5(EED):c.581A>G (p.Asn194Ser)
|
rs1945710855
|
|
NM_003801.4(GPAA1):c.1465C>T (p.Gln489Ter)
|
|
|
NM_003859.3(DPM1):c.331_343del (p.Gly111fs)
|
rs1272097668
|
|
NM_003906.5(MCM3AP):c.584del (p.Pro195fs)
|
|
|
NM_003907.3(EIF2B5):c.1264C>T (p.Arg422Ter)
|
|
|
NM_003907.3(EIF2B5):c.806G>A (p.Arg269Gln)
|
rs113994057
|
|
NM_003924.4(PHOX2B):c.765_779dup (p.Ala256_Ala260dup)
|
rs761018157
|
|
NM_003931.3(WASF1):c.1516C>T (p.Arg506Ter)
|
rs1562159562
|
|
NM_003978.5(PSTPIP1):c.748G>A (p.Glu250Lys)
|
rs28939089
|
|
NM_003998.4(NFKB1):c.904dup (p.Ser302fs)
|
rs773694113
|
|
NM_004004.6(GJB2):c.235del (p.Leu79fs)
|
rs80338943
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004006.3(DMD):c.1653G>A (p.Trp551Ter)
|
rs1060502629
|
|
NM_004006.3(DMD):c.1708del (p.Leu570fs)
|
rs2149137188
|
|
NM_004006.3(DMD):c.4980G>A (p.Trp1660Ter)
|
rs1603631752
|
|
NM_004006.3(DMD):c.650-39498A>G
|
rs1556980528
|
|
NM_004006.3(DMD):c.8627dup (p.Pro2877fs)
|
|
|
NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter)
|
rs104894797
|
|
NM_004092.4(ECHS1):c.601C>T (p.Gln201Ter)
|
|
|
NM_004187.5(KDM5C):c.2813_2816dup (p.Pro940fs)
|
|
|
NM_004218.4(RAB11B):c.64G>A (p.Val22Met)
|
rs1555690779
|
|
NM_004239.4(TRIP11):c.5269C>T (p.Arg1757Ter)
|
|
|
NM_004247.4(EFTUD2):c.509_519del (p.Ile170fs)
|
|
|
NM_004260.4(RECQL4):c.1699C>T (p.Gln567Ter)
|
rs770709355
|
|
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys)
|
rs180177038
|
|
NM_004380.3(CREBBP):c.4251C>G (p.Tyr1417Ter)
|
|
|
NM_004380.3(CREBBP):c.5683C>T (p.Gln1895Ter)
|
|
|
NM_004380.3(CREBBP):c.6005_6006del (p.Val2002fs)
|
|
|
NM_004387.4(NKX2-5):c.487del (p.Leu163fs)
|
|
|
NM_004415.4(DSP):c.8077_8080del (p.Lys2693fs)
|
rs879254352
|
|
NM_004444.5(EPHB4):c.1788T>A (p.Tyr596Ter)
|
|
|
NM_004444.5(EPHB4):c.216G>A (p.Trp72Ter)
|
|
|
NM_004444.5(EPHB4):c.2287C>T (p.Arg763Ter)
|
rs1331371272
|
|
NM_004444.5(EPHB4):c.2484+1G>A
|
rs927772349
|
|
NM_004453.4(ETFDH):c.1652C>A (p.Ser551Ter)
|
|
|
NM_004456.5(EZH2):c.2185T>C (p.Phe729Leu)
|
rs2129467486
|
|
NM_004463.3(FGD1):c.527del (p.Pro176fs)
|
rs756586058
|
|
NM_004465.2(FGF10):c.190G>T (p.Gly64Ter)
|
rs1446723373
|
|
NM_004491.5(ARHGAP35):c.2814dup (p.Lys939Ter)
|
|
|
NM_004493.3(HSD17B10):c.388C>T (p.Arg130Cys)
|
rs28935475
|
|
NM_004523.4(KIF11):c.253_260delinsTTGTTCA (p.Val85fs)
|
|
|
NM_004523.4(KIF11):c.2771-1G>C
|
rs2135925601
|
|
NM_004586.3(RPS6KA3):c.889_890del (p.Leu298fs)
|
|
|
NM_004612.4(TGFBR1):c.469C>T (p.Arg157Ter)
|
rs1060502040
|
|
NM_004614.5(TK2):c.129_132del (p.Lys43fs)
|
rs281865500
|
|
NM_004614.5(TK2):c.372_373delinsCT (p.Gln125Ter)
|
rs886039669
|
|
NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp)
|
rs386833911
|
|
NM_004646.4(NPHS1):c.542_543del (p.Ile180_Ser181insTer)
|
|
|
NM_004722.4(AP4M1):c.1012del (p.Arg338fs)
|
rs2116668499
|
|
NM_004815.4(ARHGAP29):c.62_63del (p.Ser21fs)
|
|
|
NM_004817.4(TJP2):c.3325G>T (p.Glu1109Ter)
|
rs1225374015
|
|
NM_004924.6(ACTN4):c.584G>T (p.Gly195Val)
|
|
|
NM_004958.4(MTOR):c.5930C>A (p.Thr1977Lys)
|
rs587777893
|
|
NM_004959.5(NR5A1):c.164del (p.Cys55fs)
|
|
|
NM_004959.5(NR5A1):c.983G>T (p.Gly328Val)
|
rs2131279852
|
|
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met)
|
rs1555889162
|
|
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys)
|
rs1984264748
|
|
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys)
|
rs1555889130
|
|
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His)
|
rs797044872
|
|
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu)
|
rs193929331
|
|
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)
|
rs587776934
|
|
NM_005068.3(SIM1):c.616del (p.Gln206fs)
|
rs2114540946
|
|
NM_005120.3(MED12):c.514G>C (p.Glu172Gln)
|
rs2147774632
|
|
NM_005121.3(MED13):c.712C>T (p.Gln238Ter)
|
rs2143687619
|
|
NM_005184.4(CALM3):c.421G>A (p.Glu141Lys)
|
rs1599759598
|
|
NM_005188.4(CBL):c.1096-2A>T
|
rs1592400784
|
|
NM_005249.5(FOXG1):c.1007dup (p.Ser336fs)
|
|
|
NM_005251.3(FOXC2):c.362G>A (p.Arg121His)
|
rs121909107
|
|
NM_005257.6(GATA6):c.1108_1121dup (p.Gly375fs)
|
|
|
NM_005267.5(GJA8):c.134G>T (p.Trp45Leu)
|
rs864309688
|
|
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile)
|
rs121917758
|
|
NM_005343.4(HRAS):c.187G>A (p.Glu63Lys)
|
rs121917756
|
|
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)
|
rs104894229
|
|
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp)
|
rs104894230
|
|
NM_005359.6(SMAD4):c.1081C>G (p.Arg361Gly)
|
rs80338963
|
|
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)
|
rs281875322
|
|
NM_005378.6(MYCN):c.134dup (p.Glu47fs)
|
rs780080562
|
|
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp)
|
rs587776935
|
|
NM_005475.3(SH2B3):c.1228del (p.Gly409_Ile410insTer)
|
|
|
NM_005515.4(MNX1):c.488_494dup (p.Tyr166fs)
|
rs2134846330
|
|
NM_005515.4(MNX1):c.863G>A (p.Trp288Ter)
|
rs2134838783
|
|
NM_005559.4(LAMA1):c.6333dup (p.Gln2112fs)
|
|
|
NM_005562.3(LAMC2):c.283C>T (p.Arg95Ter)
|
rs80356683
|
|
NM_005609.4(PYGM):c.373del (p.Glu125fs)
|
rs2135840482
|
|
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro)
|
rs397517153
|
|
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys)
|
rs397517154
|
|
NM_005633.4(SOS1):c.925G>T (p.Asp309Tyr)
|
rs397517180
|
|
NM_005654.6(NR2F1):c.2T>C (p.Met1Thr)
|
rs886041216
|
|
NM_005654.6(NR2F1):c.307T>C (p.Cys103Arg)
|
|
|
NM_005654.6(NR2F1):c.827T>A (p.Leu276Ter)
|
rs2149943098
|
|
NM_005676.5(RBM10):c.1993_1996del (p.Gln665fs)
|
|
|
NM_005676.5(RBM10):c.373G>T (p.Glu125Ter)
|
rs2147136759
|
|
NM_005859.5(PURA):c.217T>G (p.Phe73Val)
|
|
|
NM_005859.5(PURA):c.228del (p.Asp76fs)
|
|
|
NM_005859.5(PURA):c.362dup (p.Tyr121Ter)
|
rs2126748969
|
|
NM_005859.5(PURA):c.426_427dup (p.Leu143fs)
|
rs2126749067
|
|
NM_005859.5(PURA):c.531del (p.Pro178fs)
|
rs2126749210
|
|
NM_005859.5(PURA):c.572C>T (p.Pro191Leu)
|
rs1064795165
|
|
NM_005859.5(PURA):c.62del (p.Leu21fs)
|
|
|
NM_005859.5(PURA):c.74del (p.Gly25fs)
|
rs2126748581
|
|
NM_005901.6(SMAD2):c.748_754del (p.Ser250fs)
|
|
|
NM_005902.4(SMAD3):c.1268G>A (p.Ser423Asn)
|
rs1555414503
|
|
NM_005957.5(MTHFR):c.1166+5G>C
|
rs1483632178
|
|
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del)
|
rs1297161027
|
|
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His)
|
rs587784491
|
|
NM_006009.4(TUBA1A):c.791G>A (p.Arg264His)
|
rs886043627
|
|
NM_006009.4(TUBA1A):c.958C>T (p.Arg320Cys)
|
rs1942168488
|
|
NM_006015.6(ARID1A):c.3058A>T (p.Arg1020Trp)
|
rs2124086560
|
|
NM_006030.4(CACNA2D2):c.1126G>T (p.Glu376Ter)
|
|
|
NM_006031.6(PCNT):c.8695C>T (p.Gln2899Ter)
|
|
|
NM_006086.4(TUBB3):c.1138C>T (p.Arg380Cys)
|
rs864321717
|
|
NM_006086.4(TUBB3):c.533C>T (p.Thr178Met)
|
rs747480526
|
|
NM_006086.4(TUBB3):c.784C>T (p.Arg262Cys)
|
rs267607162
|
|
NM_006121.4(KRT1):c.1433A>G (p.Glu478Gly)
|
rs2121000699
|
|
NM_006218.4(PIK3CA):c.1132T>C (p.Cys378Arg)
|
rs1724507777
|
|
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)
|
rs1057519925
|
|
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln)
|
rs121913287
|
|
NM_006231.4(POLE):c.6571C>T (p.Gln2191Ter)
|
|
|
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
|
|
|
NM_006245.4(PPP2R5D):c.619T>C (p.Trp207Arg)
|
rs869320691
|
|
NM_006245.4(PPP2R5D):c.751G>T (p.Asp251Tyr)
|
rs1762178916
|
|
NM_006265.3(RAD21):c.1635del (p.Gly547fs)
|
|
|
NM_006306.4(SMC1A):c.511C>T (p.Arg171Ter)
|
|
|
NM_006363.6(SEC23B):c.640C>T (p.Gln214Ter)
|
|
|
NM_006371.5(CRTAP):c.153_175dup (p.His59fs)
|
|
|
NM_006516.4(SLC2A1):c.505_507del (p.Leu169del)
|
rs80359832
|
|
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met)
|
rs80359823
|
|
NM_006565.4(CTCF):c.615_618del (p.Lys206fs)
|
rs1555534147
|
|
NM_006565.4(CTCF):c.677A>G (p.Tyr226Cys)
|
rs2142826609
|
|
NM_006565.4(CTCF):c.778_781del (p.Lys260fs)
|
rs2052063931
|
|
NM_006579.3(EBP):c.338+1G>C
|
rs1569479885
|
|
NM_006593.4(TBR1):c.381del (p.Gly128fs)
|
rs2105278359
|
|
NM_006618.5(KDM5B):c.2117del (p.Cys706fs)
|
|
|
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter)
|
rs199469465
|
|
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter)
|
rs199469464
|
|
NM_006663.4(PPP1R13L):c.1068dup (p.Ser357fs)
|
rs2123382133
|
|
NM_006766.5(KAT6A):c.1133C>G (p.Ser378Ter)
|
rs2150886525
|
|
NM_006766.5(KAT6A):c.3034C>T (p.Arg1012Ter)
|
rs768856558
|
|
NM_006766.5(KAT6A):c.3377del (p.Ser1126fs)
|
|
|
NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter)
|
rs786200960
|
|
NM_006766.5(KAT6A):c.3399_3400dup (p.Lys1134fs)
|
|
|
NM_006766.5(KAT6A):c.3631_3632del (p.Thr1210_Val1211insTer)
|
|
|
NM_006766.5(KAT6A):c.3661G>T (p.Glu1221Ter)
|
rs139494583
|
|
NM_006766.5(KAT6A):c.3820G>T (p.Glu1274Ter)
|
|
|
NM_006766.5(KAT6A):c.4254_4257del (p.Glu1419fs)
|
rs1057516049
|
|
NM_006772.3(SYNGAP1):c.123del (p.Pro42fs)
|
|
|
NM_006772.3(SYNGAP1):c.85_86del (p.Met29fs)
|
|
|
NM_006772.3(SYNGAP1):c.99del (p.Gln33fs)
|
rs2151129654
|
|
NM_006846.4(SPINK5):c.2264dup (p.Asn755fs)
|
rs748978134
|
|
NM_006852.6(TLK2):c.1121+1G>A
|
rs2146617330
|
|
NM_006852.6(TLK2):c.1366A>T (p.Lys456Ter)
|
rs2146767502
|
|
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
|
|
|
NM_006912.6(RIT1):c.270G>A (p.Met90Ile)
|
rs483352822
|
|
NM_006912.6(RIT1):c.270G>C (p.Met90Ile)
|
rs483352822
|
|
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala)
|
rs672601335
|
|
NM_006912.6(RIT1):c.69A>C (p.Lys23Asn)
|
rs1557962794
|
|
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr)
|
rs1057518801
|
|
NM_006929.5(SKIC2):c.510_511insAGCTGAACACACGG (p.Glu171delinsSerTer)
|
|
|
NM_007059.4(KPTN):c.714_731dup (p.Met241_Gln246dup)
|
rs587777148
|
|
NM_007118.4(TRIO):c.7050dup (p.Val2351fs)
|
rs746654944
|
|
NM_007198.4(PLPBP):c.207+1G>T
|
|
|
NM_007198.4(PLPBP):c.387del (p.Trp130fs)
|
|
|
NM_007214.5(SEC63):c.1094dup (p.Asn365fs)
|
|
|
NM_007214.5(SEC63):c.733+1G>A
|
rs886041028
|
|
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs)
|
rs587784365
|
|
NM_007254.4(PNKP):c.1286_1287insTAAGC (p.Ser430fs)
|
|
|
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs)
|
rs80357819
|
|
NM_007315.4(STAT1):c.88del (p.Ile30fs)
|
rs886043118
|
|
NM_007317.3(KIF22):c.446G>A (p.Arg149Gln)
|
rs193922922
|
|
NM_007363.5(NONO):c.298_307del (p.Ala100fs)
|
|
|
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys)
|
rs863223953
|
|
NM_012064.4(MIP):c.616_632del (p.Val206fs)
|
|
|
NM_012193.4(FZD4):c.173A>G (p.Tyr58Cys)
|
|
|
NM_012193.4(FZD4):c.244_245delinsG (p.Phe82fs)
|
|
|
NM_012203.2(GRHPR):c.103del (p.Asp35fs)
|
rs80356708
|
|
NM_012213.3(MLYCD):c.175A>T (p.Lys59Ter)
|
|
|
NM_012250.6(RRAS2):c.68G>A (p.Gly23Asp)
|
rs1591495779
|
|
NM_012309.5(SHANK2):c.4635_4636delinsTAT (p.Val1546fs)
|
|
|
NM_012309.5(SHANK2):c.601dup (p.Leu201fs)
|
rs1555094999
|
|
NM_012330.4(KAT6B):c.3172C>T (p.Arg1058Ter)
|
rs1554843815
|
|
NM_012330.4(KAT6B):c.3217G>T (p.Glu1073Ter)
|
rs761860621
|
|
NM_012330.4(KAT6B):c.3664+1G>A
|
rs1057516033
|
|
NM_012330.4(KAT6B):c.5302C>T (p.Gln1768Ter)
|
|
|
NM_012330.4(KAT6B):c.5356G>T (p.Glu1786Ter)
|
|
|
NM_012479.4(YWHAG):c.395G>A (p.Arg132His)
|
rs1583981615
|
|
NM_013254.4(TBK1):c.1856G>A (p.Trp619Ter)
|
|
|
NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs)
|
rs797045027
|
|
NM_013275.6(ANKRD11):c.3632_3633del (p.Lys1211fs)
|
rs1555528400
|
|
NM_013275.6(ANKRD11):c.3812C>A (p.Ser1271Ter)
|
|
|
NM_013275.6(ANKRD11):c.4742_4743insAT (p.Phe1583fs)
|
|
|
NM_013275.6(ANKRD11):c.5651C>G (p.Ser1884Ter)
|
rs1555526636
|
|
NM_013275.6(ANKRD11):c.6624_6625del (p.Glu2210fs)
|
rs1555525517
|
|
NM_013275.6(ANKRD11):c.7290C>G (p.Tyr2430Ter)
|
|
|
NM_013275.6(ANKRD11):c.7481C>G (p.Pro2494Arg)
|
rs2151703550
|
|
NM_013296.5(GPSM2):c.742del (p.Gly249fs)
|
rs528069912
|
|
NM_013432.5(TONSL):c.3549del (p.Ser1183fs)
|
|
|
NM_014049.5(ACAD9):c.1185_1188del (p.Ser395fs)
|
|
|
NM_014049.5(ACAD9):c.1429C>T (p.Arg477Ter)
|
rs866688232
|
|
NM_014049.5(ACAD9):c.1636G>A (p.Val546Met)
|
|
|
NM_014112.5(TRPS1):c.2726G>A (p.Cys909Tyr)
|
rs2129769241
|
|
NM_014112.5(TRPS1):c.2927_2931del (p.Leu976fs)
|
rs2129751330
|
|
NM_014112.5(TRPS1):c.769C>T (p.Arg257Ter)
|
rs2130531352
|
|
NM_014140.4(SMARCAL1):c.250dup (p.Gln84fs)
|
rs1693554666
|
|
NM_014141.6(CNTNAP2):c.2569del (p.Ser857fs)
|
|
|
NM_014141.6(CNTNAP2):c.648dup (p.Lys217Ter)
|
rs2129279547
|
|
NM_014159.7(SETD2):c.6844_6845del (p.Val2282fs)
|
|
|
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)
|
rs1555582065
|
|
NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter)
|
rs80338719
|
|
NM_014297.5(ETHE1):c.131_132del (p.Glu44fs)
|
rs761827730
|
|
NM_014319.5(LEMD3):c.906del (p.Gly303fs)
|
rs2136313188
|
|
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs)
|
rs1400601705
|
|
NM_014363.6(SACS):c.12673_12677del (p.Tyr4225fs)
|
|
|
NM_014363.6(SACS):c.470_471del (p.Tyr157fs)
|
rs1444216187
|
|
NM_014365.3(HSPB8):c.508del (p.Gln170fs)
|
|
|
NM_014425.5(INVS):c.2719C>T (p.Arg907Ter)
|
rs267607185
|
|
NM_014491.4(FOXP2):c.1432C>T (p.Arg478Ter)
|
rs1474090446
|
|
NM_014491.4(FOXP2):c.982C>T (p.Arg328Ter)
|
rs121908378
|
|
NM_014516.4(CNOT3):c.1865G>A (p.Trp622Ter)
|
|
|
NM_014712.3(SETD1A):c.1256_1259dup (p.Thr421fs)
|
rs2143491920
|
|
NM_014927.5(CNKSR2):c.2024_2027del (p.Glu675fs)
|
|
|
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu)
|
rs1553317025
|
|
NM_014946.4(SPAST):c.1245+5G>A
|
rs1553317049
|
|
NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter)
|
rs786204126
|
|
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys)
|
rs878854990
|
|
NM_014946.4(SPAST):c.1413+1G>A
|
rs1553318276
|
|
NM_014946.4(SPAST):c.1413+3_1413+6del
|
rs570685843
|
|
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)
|
rs878854991
|
|
NM_014946.4(SPAST):c.1550T>G (p.Leu517Trp)
|
|
|
NM_014946.4(SPAST):c.1691del (p.Leu564fs)
|
rs2148762771
|
|
NM_014946.4(SPAST):c.1714_1715del (p.Met572fs)
|
rs2148762813
|
|
NM_014946.4(SPAST):c.870+1G>T
|
rs1553314978
|
|
NM_014967.5(FAN1):c.2120G>A (p.Trp707Ter)
|
rs953653119
|
|
NM_014975.3(MAST1):c.1568T>C (p.Leu523Pro)
|
rs2145907069
|
|
NM_014991.6(WDFY3):c.3579G>A (p.Trp1193Ter)
|
|
|
NM_015001.3(SPEN):c.922C>T (p.Arg308Ter)
|
|
|
NM_015021.3(ZNF292):c.3432_3436del (p.Asn1144fs)
|
|
|
NM_015021.3(ZNF292):c.4450C>T (p.Gln1484Ter)
|
|
|
NM_015021.3(ZNF292):c.6266_6269del (p.Lys2089fs)
|
rs2127872112
|
|
NM_015047.3(EMC1):c.661C>T (p.Gln221Ter)
|
|
|
NM_015065.3(EXPH5):c.5422C>T (p.Arg1808Ter)
|
|
|
NM_015102.5(NPHP4):c.834_841del (p.Ala279fs)
|
rs781558715
|
|
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His)
|
rs1554504663
|
|
NM_015335.5(MED13L):c.1994_1997del (p.Glu665fs)
|
rs1555247800
|
|
NM_015335.5(MED13L):c.278del (p.Asn93fs)
|
|
|
NM_015335.5(MED13L):c.3205C>T (p.Gln1069Ter)
|
rs2137307819
|
|
NM_015335.5(MED13L):c.3383_3384del (p.Asn1127_Phe1128insTer)
|
|
|
NM_015335.5(MED13L):c.4087del (p.His1363fs)
|
|
|
NM_015335.5(MED13L):c.4539_4542del (p.Pro1512_Tyr1513insTer)
|
|
|
NM_015335.5(MED13L):c.5278C>T (p.Arg1760Ter)
|
rs886041448
|
|
NM_015335.5(MED13L):c.5364+1dup
|
rs1877270718
|
|
NM_015335.5(MED13L):c.6017_6035del (p.Gln2006fs)
|
|
|
NM_015335.5(MED13L):c.6039del (p.Asn2014fs)
|
|
|
NM_015338.6(ASXL1):c.1867C>T (p.Gln623Ter)
|
rs111316898
|
|
NM_015346.4(ZFYVE26):c.2254C>T (p.Gln752Ter)
|
rs1057518016
|
|
NM_015346.4(ZFYVE26):c.517del (p.Glu173fs)
|
|
|
NM_015443.4(KANSL1):c.2938_2939del (p.Leu980fs)
|
rs1568366050
|
|
NM_015443.4(KANSL1):c.779del (p.Gly260fs)
|
rs748018297
|
|
NM_015488.5(PNKD):c.20C>T (p.Ala7Val)
|
rs121434512
|
|
NM_015559.3(SETBP1):c.2087dup (p.Glu697fs)
|
|
|
NM_015559.3(SETBP1):c.2572G>A (p.Glu858Lys)
|
rs1178702025
|
|
NM_015559.3(SETBP1):c.2602G>C (p.Asp868His)
|
rs267607042
|
|
NM_015559.3(SETBP1):c.623del (p.Pro208fs)
|
|
|
NM_015570.4(AUTS2):c.1135C>T (p.Gln379Ter)
|
|
|
NM_015629.4(PRPF31):c.946-2A>G
|
rs2073961843
|
|
NM_015909.4(NBAS):c.2802G>A (p.Trp934Ter)
|
rs1572813576
|
|
NM_015909.4(NBAS):c.6840G>A (p.Thr2280=)
|
rs776597537
|
|
NM_015981.4(CAMK2A):c.635C>T (p.Pro212Leu)
|
rs926027867
|
|
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter)
|
rs113993991
|
|
NM_016203.4(PRKAG2):c.1592G>A (p.Arg531Gln)
|
rs121908991
|
|
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs)
|
rs769260536
|
|
NM_016239.4(MYO15A):c.1185dup (p.Glu396fs)
|
rs772536599
|
|
NM_016239.4(MYO15A):c.7124_7127del (p.Asp2375fs)
|
rs780170125
|
|
NM_016306.6(DNAJB11):c.151C>T (p.Gln51Ter)
|
|
|
NM_016373.4(WWOX):c.606-1778_792-2744del
|
|
|
NM_016373.4(WWOX):c.982_998del (p.Tyr328fs)
|
|
|
NM_016628.5(WAC):c.1631dup (p.Gln545fs)
|
rs2132862551
|
|
NM_016648.4(LARP7):c.290C>A (p.Ser97Ter)
|
|
|
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr)
|
rs146664036
|
|
NM_017780.4(CHD7):c.2815G>T (p.Glu939Ter)
|
rs587783434
|
|
NM_017780.4(CHD7):c.2990del (p.Leu997fs)
|
rs1554597677
|
|
NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter)
|
rs886040991
|
|
NM_017780.4(CHD7):c.5405-17G>A
|
rs794727423
|
|
NM_017780.4(CHD7):c.604C>T (p.Gln202Ter)
|
rs1554581277
|
|
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter)
|
rs886040995
|
|
NM_017780.4(CHD7):c.7711_7718del (p.Val2571fs)
|
|
|
NM_017799.4(TMEM260):c.1783_1795dup (p.Phe599Ter)
|
|
|
NM_017934.7(PHIP):c.704_705del (p.Asn234_Tyr235insTer)
|
rs2127748476
|
|
NM_017951.5(SMPD4):c.-43del
|
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
|
NM_018075.5(ANO10):c.96del (p.Glu33fs)
|
rs758937084
|
|
NM_018136.5(ASPM):c.1726_1727del (p.Lys576fs)
|
rs1057518268
|
|
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs)
|
rs199422173
|
|
NM_018136.5(ASPM):c.8191G>T (p.Glu2731Ter)
|
rs2125093662
|
|
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs)
|
rs587783280
|
|
NM_018238.4(AGK):c.424-3C>G
|
rs766413410
|
|
NM_018418.5(SPATA7):c.1126_1127del (p.Thr375_Asp376insTer)
|
rs1227147156
|
|
NM_018486.3(HDAC8):c.134_137del (p.Ile45fs)
|
rs797045610
|
|
NM_018684.4(ZC4H2):c.592C>T (p.Arg198Trp)
|
rs137962226
|
|
NM_018896.5(CACNA1G):c.4591A>G (p.Met1531Val)
|
rs1555558553
|
|
NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs)
|
rs199473693
|
|
NM_019098.5(CNGB3):c.1493del (p.Leu498fs)
|
rs773381712
|
|
NM_019098.5(CNGB3):c.595del (p.Glu199fs)
|
rs1823778696
|
|
NM_019109.4(ALG1):c.149A>G (p.Gln50Arg)
|
rs794726944
|
|
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)
|
rs886039763
|
|
NM_019892.6(INPP5E):c.226dup (p.Ala76fs)
|
|
|
NM_020297.4(ABCC9):c.3605C>T (p.Thr1202Met)
|
rs2137272605
|
|
NM_020374.4(C12orf4):c.187G>T (p.Glu63Ter)
|
|
|
NM_020436.5(SALL4):c.2252del (p.Asn751fs)
|
|
|
NM_020458.4(TTC7A):c.1183dup (p.Gln395fs)
|
rs886042806
|
|
NM_020458.4(TTC7A):c.1869C>A (p.Cys623Ter)
|
rs1682321195
|
|
NM_020458.4(TTC7A):c.2470C>T (p.Gln824Ter)
|
rs1057516047
|
|
NM_020458.4(TTC7A):c.286G>T (p.Glu96Ter)
|
rs886042805
|
|
NM_020461.4(TUBGCP6):c.1615_1616del (p.Trp539fs)
|
|
|
NM_020549.5(CHAT):c.1444dup (p.Arg482fs)
|
|
|
NM_020699.4(GATAD2B):c.1438C>T (p.Gln480Ter)
|
rs1674313030
|
|
NM_020706.2(SCAF4):c.749del (p.Pro250fs)
|
rs2123578933
|
|
NM_020719.3(PRR12):c.4344del (p.Glu1449fs)
|
rs2122311106
|
|
NM_020738.4(KIDINS220):c.3395dup (p.His1133fs)
|
|
|
NM_020745.4(AARS2):c.647dup (p.Cys218fs)
|
rs587777589
|
|
NM_020745.4(AARS2):c.87_88dup (p.Leu30fs)
|
rs780686559
|
|
NM_020778.5(ALPK3):c.2237del (p.Gly746fs)
|
rs1596155145
|
|
NM_020778.5(ALPK3):c.3381del (p.Ser1129fs)
|
rs2141569005
|
|
NM_020791.4(TAOK1):c.2125C>T (p.Arg709Ter)
|
rs1347078601
|
|
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
|
|
|
NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys)
|
rs866242631
|
|
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser)
|
rs587777264
|
|
NM_020832.3(ZNF687):c.2810C>G (p.Pro937Arg)
|
rs148402804
|
|
NM_020919.4(ALS2):c.1640+1G>A
|
rs2106074229
|
|
NM_020919.4(ALS2):c.3829A>T (p.Lys1277Ter)
|
|
|
NM_020975.6(RET):c.1852T>G (p.Cys618Gly)
|
rs76262710
|
|
NM_020988.3(GNAO1):c.140G>A (p.Ser47Asn)
|
rs1596787821
|
|
NM_020988.3(GNAO1):c.724-8G>A
|
rs1085307876
|
|
NM_021095.4(SLC5A6):c.393+2T>C
|
|
|
NM_021628.3(ALOXE3):c.834C>A (p.Tyr278Ter)
|
rs765682032
|
|
NM_021871.4(FGA):c.713del (p.Lys238fs)
|
|
|
NM_021956.5(GRIK2):c.1979C>A (p.Thr660Lys)
|
rs1790058081
|
|
NM_021957.4(GYS2):c.522T>G (p.Tyr174Ter)
|
|
|
NM_022124.6(CDH23):c.1291-1G>A
|
rs2132596686
|
|
NM_022124.6(CDH23):c.9246_9247del (p.Phe3083fs)
|
|
|
NM_022356.4(P3H1):c.2154dup (p.Glu719fs)
|
rs752671524
|
|
NM_022370.4(ROBO3):c.571del (p.Arg191fs)
|
|
|
NM_022370.4(ROBO3):c.571dup (p.Arg191fs)
|
rs756837590
|
|
NM_022437.3(ABCG8):c.1752G>A (p.Trp584Ter)
|
rs754182905
|
|
NM_022455.5(NSD1):c.1064-2A>G
|
rs2149836062
|
|
NM_022455.5(NSD1):c.2948dup (p.Gly983_Asp984insTer)
|
rs2149846650
|
|
NM_022455.5(NSD1):c.4378+3_4378+6del
|
rs1562251194
|
|
NM_022455.5(NSD1):c.4771C>T (p.His1591Tyr)
|
rs1554199368
|
|
NM_022455.5(NSD1):c.4847A>G (p.His1616Arg)
|
rs1756522180
|
|
NM_022455.5(NSD1):c.4919G>A (p.Cys1640Tyr)
|
|
|
NM_022455.5(NSD1):c.5738A>G (p.Asn1913Ser)
|
rs2127257170
|
|
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)
|
rs587784177
|
|
NM_022455.5(NSD1):c.7405del (p.Ala2469fs)
|
rs2127282737
|
|
NM_022489.4(INF2):c.640C>T (p.Arg214Cys)
|
rs912928648
|
|
NM_022552.5(DNMT3A):c.2204A>G (p.Tyr735Cys)
|
rs147828672
|
|
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys)
|
rs377577594
|
|
NM_023067.4(FOXL2):c.340A>T (p.Lys114Ter)
|
rs1057516159
|
|
NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs)
|
rs672601359
|
|
NM_023110.3(FGFR1):c.1977+1G>A
|
rs876661334
|
|
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg)
|
rs121909627
|
|
NM_024298.5(MBOAT7):c.680_690dup (p.Leu231fs)
|
rs1264222654
|
|
NM_024298.5(MBOAT7):c.758_778del (p.Glu253_Ala259del)
|
rs750035706
|
|
NM_024301.5(FKRP):c.1267del (p.Arg423fs)
|
rs886044083
|
|
NM_024408.4(NOTCH2):c.4593dup (p.Leu1532fs)
|
|
|
NM_024408.4(NOTCH2):c.6667C>T (p.Gln2223Ter)
|
|
|
NM_024426.6(WT1):c.1400G>A (p.Arg467Gln)
|
rs121907903
|
|
NM_024426.6(WT1):c.1447+1G>A
|
|
|
NM_024496.4(IRF2BPL):c.496G>T (p.Glu166Ter)
|
rs2139976004
|
|
NM_024685.4(BBS10):c.1091del (p.Asn364fs)
|
rs727503818
|
|
NM_024721.5(ZFHX4):c.5695C>T (p.Arg1899Ter)
|
rs1563560495
|
|
NM_024757.5(EHMT1):c.2712+1G>A
|
rs1057518849
|
|
NM_025009.5(CEP135):c.1376_1379del (p.Lys459fs)
|
rs777869134
|
|
NM_025114.4(CEP290):c.2506G>T (p.Glu836Ter)
|
|
|
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs)
|
rs764309755
|
|
NM_025114.4(CEP290):c.7027del (p.Val2343fs)
|
rs2033827549
|
|
NM_025114.4(CEP290):c.7282_7286dup (p.Tyr2429Ter)
|
rs2136546576
|
|
NM_025137.4(SPG11):c.5864del (p.Ser1955fs)
|
|
|
NM_025137.4(SPG11):c.6204A>G (p.Thr2068=)
|
|
|
NM_025144.4(ALPK1):c.710C>T (p.Thr237Met)
|
rs1052954321
|
|
NM_025233.7(COASY):c.1403_1404dup (p.Ile469Ter)
|
rs560987504
|
|
NM_030632.3(ASXL3):c.5467C>T (p.Arg1823Ter)
|
rs2145432318
|
|
NM_030653.4(DDX11):c.1862dup (p.Thr622fs)
|
rs766120336
|
|
NM_030665.4(RAI1):c.4317dup (p.Thr1440fs)
|
|
|
NM_030912.3(TRIM8):c.1257C>A (p.Cys419Ter)
|
rs2064030791
|
|
NM_030912.3(TRIM8):c.1357C>T (p.Gln453Ter)
|
|
|
NM_031263.4(HNRNPK):c.440T>A (p.Leu147Ter)
|
|
|
NM_031307.4(PUS3):c.366_367del (p.Ala123fs)
|
rs1944570170
|
|
NM_031885.5(BBS2):c.256_278dup (p.Val94fs)
|
rs2144193013
|
|
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)
|
rs78635798
|
|
NM_032271.3(TRAF7):c.1570C>T (p.Arg524Trp)
|
rs2093132159
|
|
NM_033109.5(PNPT1):c.1818T>G (p.Val606=)
|
rs1049082567
|
|
NM_033109.5(PNPT1):c.406C>T (p.Arg136Cys)
|
|
|
NM_033360.4(KRAS):c.178G>A (p.Gly60Ser)
|
rs104894359
|
|
NM_033380.3(COL4A5):c.1001G>A (p.Gly334Asp)
|
rs104886093
|
|
NM_033380.3(COL4A5):c.1690G>T (p.Gly564Cys)
|
rs281874674
|
|
NM_033380.3(COL4A5):c.2333G>A (p.Gly778Asp)
|
rs2066736770
|
|
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)
|
rs104886189
|
|
NM_033380.3(COL4A5):c.3650G>A (p.Gly1217Asp)
|
rs1569505758
|
|
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser)
|
rs1569505771
|
|
NM_033380.3(COL4A5):c.4119_4126del (p.Gln1373fs)
|
rs2068436110
|
|
NM_033380.3(COL4A5):c.4931G>A (p.Cys1644Tyr)
|
rs104886302
|
|
NM_033380.3(COL4A5):c.4938C>G (p.Tyr1646Ter)
|
rs2068717619
|
|
NM_033380.3(COL4A5):c.5047C>T (p.Arg1683Ter)
|
rs104886306
|
|
NM_033380.3(COL4A5):c.659T>A (p.Leu220Ter)
|
rs2066183255
|
|
NM_033629.6(TREX1):c.58dup (p.Glu20fs)
|
rs78300695
|
|
NM_033629.6(TREX1):c.629G>A (p.Trp210Ter)
|
rs184953805
|
|
NM_053274.3(GLMN):c.157_161del (p.Glu52_Lys53insTer)
|
rs762515373
|
|
NM_053274.3(GLMN):c.743dup (p.Leu248fs)
|
rs754756178
|
|
NM_057175.5(NAA15):c.1051del (p.Thr351fs)
|
rs2110941246
|
|
NM_078480.3(PUF60):c.1154_1166del (p.Pro385fs)
|
rs2130223089
|
|
NM_078480.3(PUF60):c.1471G>A (p.Gly491Arg)
|
rs1816336903
|
|
NM_078480.3(PUF60):c.382_383del (p.Met128fs)
|
rs2130258214
|
|
NM_078480.3(PUF60):c.510+1G>A
|
rs1816618311
|
|
NM_078480.3(PUF60):c.860dup (p.Met287fs)
|
rs2130242101
|
|
NM_078629.4(MSL3):c.1466+1G>A
|
rs1601774648
|
|
NM_080632.3(UPF3B):c.1166_1167del (p.Lys389fs)
|
rs2147783395
|
|
NM_130810.4(DNAAF4):c.784_893del (p.Trp262fs)
|
|
|
NM_133433.4(NIPBL):c.188C>A (p.Ser63Ter)
|
rs1740845459
|
|
NM_133433.4(NIPBL):c.3316C>T (p.Arg1106Ter)
|
rs2149668942
|
|
NM_133433.4(NIPBL):c.6892C>T (p.Arg2298Cys)
|
rs80358376
|
|
NM_133433.4(NIPBL):c.7150C>T (p.Gln2384Ter)
|
rs1057516034
|
|
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr)
|
rs587784036
|
|
NM_133433.4(NIPBL):c.793_794insTTCC (p.Arg265fs)
|
rs2149621638
|
|
NM_133433.4(NIPBL):c.8326dup (p.Ile2776fs)
|
rs1157335847
|
|
NM_138295.5(PKD1L1):c.6473+2_6473+3del
|
rs528302390
|
|
NM_138459.5(NUS1):c.128_141dup (p.Val48fs)
|
rs1554200722
|
|
NM_138459.5(NUS1):c.99G>A (p.Trp33Ter)
|
rs2114674415
|
|
NM_138576.4(BCL11B):c.1272_1278del (p.Lys425fs)
|
rs2139759372
|
|
NM_138576.4(BCL11B):c.2448_2461dup (p.Glu821fs)
|
rs2139753037
|
|
NM_138615.3(DHX30):c.2344C>T (p.Arg782Trp)
|
rs753242774
|
|
NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs)
|
rs1057517071
|
|
NM_138694.4(PKHD1):c.11468C>G (p.Ser3823Ter)
|
rs2150329160
|
|
NM_138694.4(PKHD1):c.2192C>A (p.Ser731Ter)
|
rs1057516608
|
|
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)
|
rs370277502
|
|
NM_138694.4(PKHD1):c.2770C>T (p.Gln924Ter)
|
|
|
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs)
|
rs398124484
|
|
NM_138694.4(PKHD1):c.528-2A>G
|
|
|
NM_138694.4(PKHD1):c.5751+3A>G
|
rs1581726525
|
|
NM_138694.4(PKHD1):c.8863C>T (p.Arg2955Ter)
|
rs1229564017
|
|
NM_138694.4(PKHD1):c.930del (p.Thr311fs)
|
rs398124501
|
|
NM_138694.4(PKHD1):c.9825del (p.Gln3276fs)
|
|
|
NM_138927.4(SON):c.1892_1910del (p.Glu631fs)
|
|
|
NM_138927.4(SON):c.2357_2358dup (p.Ala787Ter)
|
rs2145823461
|
|
NM_138927.4(SON):c.3852_3856del (p.Met1284fs)
|
rs1114167303
|
|
NM_138927.4(SON):c.3968_3975delinsGTTGGT (p.Ser1323fs)
|
rs2145831260
|
|
NM_139027.6(ADAMTS13):c.1169G>A (p.Trp390Ter)
|
|
|
NM_139058.3(ARX):c.502_503dup (p.Ser168fs)
|
rs2147324110
|
|
NM_144672.4(OTOA):c.828del (p.Ser277fs)
|
rs751447996
|
|
NM_144997.7(FLCN):c.1285dup (p.His429fs)
|
rs80338682
|
|
NM_144997.7(FLCN):c.1318_1334dup (p.Leu449fs)
|
rs879255677
|
|
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del)
|
rs796052243
|
|
NM_145239.3(PRRT2):c.649del (p.Arg217fs)
|
rs587778771
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His)
|
rs606231435
|
|
NM_152296.5(ATP1A3):c.2512_2516delinsTC (p.Arg838_Leu839delinsSer)
|
rs1057516032
|
|
NM_152515.5(CKAP2L):c.501del (p.Asn167fs)
|
rs2104884982
|
|
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter)
|
rs777593389
|
|
NM_152564.5(VPS13B):c.259del (p.Glu87fs)
|
|
|
NM_152564.5(VPS13B):c.7919G>A (p.Trp2640Ter)
|
rs2130702734
|
|
NM_152594.3(SPRED1):c.475del (p.Gln159fs)
|
rs2141007796
|
|
NM_152594.3(SPRED1):c.950C>G (p.Ser317Ter)
|
|
|
NM_152641.4(ARID2):c.1334_1338del (p.Met445fs)
|
|
|
NM_152641.4(ARID2):c.2521C>T (p.Gln841Ter)
|
rs1555154946
|
|
NM_152641.4(ARID2):c.4255_4256del (p.Pro1419fs)
|
rs2138178306
|
|
NM_152730.6(TBC1D32):c.2200C>T (p.Arg734Ter)
|
|
|
NM_152783.5(D2HGDH):c.71G>A (p.Trp24Ter)
|
|
|
NM_153033.5(KCTD7):c.631C>T (p.Arg211Ter)
|
rs750811871
|
|
NM_153614.4(DNAJB13):c.92_95delinsGAG (p.His31fs)
|
|
|
NM_170606.3(KMT2C):c.10724_10725dup (p.Ile3576fs)
|
|
|
NM_170606.3(KMT2C):c.5419C>T (p.Gln1807Ter)
|
rs2129121010
|
|
NM_172107.4(KCNQ2):c.1093C>T (p.Arg365Ter)
|
|
|
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp)
|
rs773171451
|
|
NM_172107.4(KCNQ2):c.195_198del (p.Lys66fs)
|
|
|
NM_172107.4(KCNQ2):c.2330_2331dup (p.Glu778fs)
|
|
|
NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln)
|
rs796052621
|
|
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His)
|
rs886041262
|
|
NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu)
|
rs74315392
|
|
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr)
|
rs794727740
|
|
NM_172107.4(KCNQ2):c.829A>G (p.Thr277Ala)
|
|
|
NM_172107.4(KCNQ2):c.835G>A (p.Gly279Ser)
|
|
|
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser)
|
rs1057516099
|
|
NM_172107.4(KCNQ2):c.949G>A (p.Ala317Thr)
|
rs1600751236
|
|
NM_172337.2(OTX2):c.402dup (p.Ser135Leufs)
|
rs1555350223
|
|
NM_173076.3(ABCA12):c.6234-1G>C
|
rs1553520468
|
|
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)
|
rs606231128
|
|
NM_174936.4(PCSK9):c.1120G>T (p.Asp374Tyr)
|
rs137852912
|
|
NM_176824.3(BBS7):c.1002del (p.Asn335fs)
|
rs762782183
|
|
NM_177559.3(CSNK2A1):c.140G>A (p.Arg47Gln)
|
rs869312845
|
|
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg)
|
rs869312840
|
|
NM_181486.4(TBX5):c.105del (p.Ser36fs)
|
rs1057516042
|
|
NM_181552.4(CUX1):c.875T>A (p.Leu292Ter)
|
|
|
NM_181789.4(GLDN):c.980_981del (p.Ser327fs)
|
rs755420151
|
|
NM_182548.4(LHFPL5):c.250del (p.Pro83_Leu84insTer)
|
rs779841884
|
|
NM_182925.5(FLT4):c.1755C>G (p.Tyr585Ter)
|
|
|
NM_182931.3(KMT2E):c.1474_1478dup (p.Lys494fs)
|
|
|
NM_182931.3(KMT2E):c.847C>T (p.Arg283Ter)
|
|
|
NM_182948.4(PRKACB):c.404A>T (p.His135Leu)
|
|
|
NM_183050.4(BCKDHB):c.272del (p.Ala91fs)
|
rs2127726212
|
|
NM_194248.3(OTOF):c.4885del (p.His1629fs)
|
rs2148026336
|
|
NM_194277.3(FRMD7):c.781C>T (p.Arg261Ter)
|
rs1927850772
|
|
NM_194454.3(KRIT1):c.1524_1528del (p.Arg510fs)
|
rs1057517754
|
|
NM_194454.3(KRIT1):c.1561C>T (p.Gln521Ter)
|
rs2131435199
|
|
NM_194454.3(KRIT1):c.857G>A (p.Trp286Ter)
|
|
|
NM_194454.3(KRIT1):c.953_956del (p.Asp318fs)
|
|
|
NM_198239.2(CCN6):c.737del (p.Leu246fs)
|
|
|
NM_201548.5(CERKL):c.316C>A (p.Arg106Ser)
|
rs569826109
|
|
NM_203475.3(PORCN):c.268C>T (p.Arg90Ter)
|
rs1114167283
|
|
NM_206933.2(USH2A):c.850_853delGAGA
|
|
|
NM_206933.4(USH2A):c.10699del (p.Gln3566_Leu3567insTer)
|
rs1661659605
|
|
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn)
|
rs483353055
|
|
NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs)
|
rs869312180
|
|
NM_206933.4(USH2A):c.820C>G (p.Arg274Gly)
|
rs397518036
|
|
NM_207581.4(DUOXA2):c.298del (p.Arg100fs)
|
|
|
NM_212482.4(FN1):c.2918A>G (p.Tyr973Cys)
|
rs137854488
|
|
NR_003051.3(RMRP):n.-5_-4insAACTACTCTGTGAAGCTGA
|
|
|
NR_003051.4(RMRP):n.94dup
|
rs2131808768
|
|