NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)
|
rs1800562
|
0.03880
|
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)
|
rs17580
|
0.02950
|
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)
|
rs61747728
|
0.02796
|
NM_005105.5(RBM8A):c.-21G>A
|
rs139428292
|
0.01871
|
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)
|
rs121908120
|
0.01450
|
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_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_016233.2(PADI3):c.881C>T (p.Ala294Val)
|
rs144080386
|
0.00620
|
NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser)
|
rs116621885
|
0.00569
|
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)
|
rs6445
|
0.00530
|
NM_016233.2(PADI3):c.335T>A (p.Leu112His)
|
rs142129409
|
0.00502
|
NM_000371.4(TTR):c.424G>A (p.Val142Ile)
|
rs76992529
|
0.00501
|
NM_001193313.2(SUGCT):c.985C>T (p.Arg329Trp)
|
rs137852860
|
0.00490
|
NM_000250.2(MPO):c.2031-2A>C
|
rs35897051
|
0.00472
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)
|
rs33930165
|
0.00414
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)
|
rs41276738
|
0.00377
|
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_000275.3(OCA2):c.1327G>A (p.Val443Ile)
|
rs121918166
|
0.00350
|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
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_000065.5(C6):c.1879del (p.Asp627fs)
|
rs61469168
|
0.00328
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp)
|
rs141090143
|
0.00278
|
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_002016.2(FLG):c.2476C>T (p.Arg826Ter)
|
rs115746363
|
0.00243
|
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_004771.4(MMP20):c.954-2A>T
|
rs140213840
|
0.00224
|
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_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)
|
rs397515360
|
0.00183
|
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)
|
rs137852769
|
0.00182
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)
|
rs61751374
|
0.00178
|
NM_016327.3(UPB1):c.917-1G>A
|
rs143493067
|
0.00169
|
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn)
|
rs121434346
|
0.00168
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter)
|
rs10250779
|
0.00166
|
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)
|
rs28934897
|
0.00156
|
NM_138413.4(HOGA1):c.700+5G>T
|
rs185803104
|
0.00156
|
NR_003051.3(RMRP):n.71A>G
|
rs199476103
|
0.00156
|
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)
|
rs76723693
|
0.00154
|
NM_003060.4(SLC22A5):c.-149G>A
|
rs57262206
|
0.00144
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)
|
rs150766139
|
0.00138
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_000065.5(C6):c.821del (p.Gln274fs)
|
rs557023458
|
0.00131
|
NM_001041.4(SI):c.1730T>G (p.Val577Gly)
|
rs121912615
|
0.00131
|
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr)
|
rs137868995
|
0.00125
|
NM_213607.3(CCDC103):c.461A>C (p.His154Pro)
|
rs145457535
|
0.00123
|
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter)
|
rs72653706
|
0.00122
|
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)
|
rs145138923
|
0.00120
|
NM_000066.4(C8B):c.1282C>T (p.Arg428Ter)
|
rs41286844
|
0.00118
|
NM_019616.4(F7):c.1025G>A (p.Arg342Gln)
|
rs121964926
|
0.00118
|
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00117
|
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile)
|
rs201162411
|
0.00116
|
NM_004130.4(GYG1):c.304G>C (p.Asp102His)
|
rs143137713
|
0.00109
|
NM_001041.4(SI):c.5234T>G (p.Phe1745Cys)
|
rs79717168
|
0.00108
|
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)
|
rs121434254
|
0.00105
|
NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu)
|
rs147149459
|
0.00105
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_016366.3(CABP2):c.637+1G>T
|
rs149712664
|
0.00102
|
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter)
|
rs137852987
|
0.00102
|
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)
|
rs191312027
|
0.00101
|
NM_001083116.3(PRF1):c.50del (p.Leu17fs)
|
rs147035858
|
0.00100
|
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)
|
rs137854523
|
0.00098
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00096
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
NM_004646.4(NPHS1):c.121_122del (p.Leu41fs)
|
rs386833873
|
0.00089
|
NM_000587.4(C7):c.405del (p.Asn136fs)
|
rs139491301
|
0.00088
|
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)
|
rs142572218
|
0.00088
|
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter)
|
rs121908119
|
0.00087
|
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)
|
rs121965019
|
0.00086
|
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser)
|
rs6068812
|
0.00084
|
NM_194318.4(B3GLCT):c.660+1G>A
|
rs80338851
|
0.00083
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00081
|
NM_018161.5(NADSYN1):c.1717G>A (p.Ala573Thr)
|
rs144139747
|
0.00081
|
NM_000158.4(GBE1):c.691+2T>C
|
rs192044702
|
0.00078
|
NM_002225.5(IVD):c.932C>T (p.Ala311Val)
|
rs28940889
|
0.00077
|
NM_000174.5(GP9):c.182A>G (p.Asn61Ser)
|
rs5030764
|
0.00076
|
NM_000235.4(LIPA):c.894G>A (p.Gln298=)
|
rs116928232
|
0.00075
|
NM_000251.3(MSH2):c.942+3A>T
|
rs193922376
|
0.00072
|
NM_000402.4(G6PD):c.934G>C (p.Asp312His)
|
rs137852318
|
0.00072
|
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)
|
rs11555217
|
0.00072
|
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)
|
rs150487794
|
0.00071
|
NM_005797.4(MPZL2):c.72del (p.Ile24fs)
|
rs752672077
|
0.00069
|
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)
|
rs113994095
|
0.00068
|
NM_022356.4(P3H1):c.1080+1G>T
|
rs72659351
|
0.00068
|
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)
|
rs121908529
|
0.00067
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_000128.4(F11):c.403G>T (p.Glu135Ter)
|
rs121965063
|
0.00066
|
NM_000128.4(F11):c.901T>C (p.Phe301Leu)
|
rs121965064
|
0.00065
|
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)
|
rs121907943
|
0.00063
|
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)
|
rs121965020
|
0.00063
|
NM_020041.3(SLC2A9):c.646G>A (p.Gly216Arg)
|
rs561633150
|
0.00061
|
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu)
|
rs199690076
|
0.00059
|
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter)
|
rs121434422
|
0.00058
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)
|
rs139260335
|
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_014625.4(NPHS2):c.413G>A (p.Arg138Gln)
|
rs74315342
|
0.00054
|
NM_021971.4(GMPPB):c.79G>C (p.Asp27His)
|
rs142336618
|
0.00054
|
NM_000391.4(TPP1):c.509-1G>C
|
rs56144125
|
0.00053
|
NM_000392.5(ABCC2):c.3196C>T (p.Arg1066Ter)
|
rs72558199
|
0.00053
|
NM_001329943.3(KIAA0586):c.94dup (p.His32fs)
|
rs555421894
|
0.00053
|
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln)
|
rs113403872
|
0.00052
|
NM_000372.5(TYR):c.1037-7T>A
|
rs61754381
|
0.00051
|
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)
|
rs61754388
|
0.00051
|
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)
|
rs116171274
|
0.00051
|
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter)
|
rs80356682
|
0.00049
|
NM_014324.6(AMACR):c.154T>C (p.Ser52Pro)
|
rs121917814
|
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_005199.5(CHRNG):c.459dup (p.Val154fs)
|
rs774279192
|
0.00048
|
NM_080860.4(RSPH1):c.275-2A>C
|
rs151107532
|
0.00048
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser)
|
rs776989258
|
0.00047
|
NM_000487.6(ARSA):c.465+1G>A
|
rs80338815
|
0.00046
|
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)
|
rs28942073
|
0.00046
|
NM_001130987.2(DYSF):c.2697+1G>A
|
rs140108514
|
0.00046
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)
|
rs121918170
|
0.00043
|
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)
|
rs121907998
|
0.00041
|
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)
|
rs138977195
|
0.00041
|
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)
|
rs77563738
|
0.00041
|
NM_014305.4(TGDS):c.298G>T (p.Ala100Ser)
|
rs140430952
|
0.00041
|
NM_000277.3(PAH):c.1315+1G>A
|
rs5030861
|
0.00040
|
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)
|
rs201697532
|
0.00039
|
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu)
|
rs74315298
|
0.00039
|
NM_000199.5(SGSH):c.734G>A (p.Arg245His)
|
rs104894635
|
0.00039
|
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)
|
rs121908759
|
0.00039
|
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)
|
rs121909398
|
0.00039
|
NM_000197.2(HSD17B3):c.277+4A>T
|
rs201115371
|
0.00038
|
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)
|
rs137852700
|
0.00038
|
NM_001395891.1(CLASP1):c.196-605C>T
|
rs188343279
|
0.00038
|
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter)
|
rs121908171
|
0.00037
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)
|
rs34637584
|
0.00036
|
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)
|
rs80338848
|
0.00035
|
NM_016123.4(IRAK4):c.877C>T (p.Gln293Ter)
|
rs121908002
|
0.00035
|
NM_000338.3(SLC12A1):c.1875G>A (p.Trp625Ter)
|
rs137853159
|
0.00033
|
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val)
|
rs121912714
|
0.00033
|
NM_004183.4(BEST1):c.422G>A (p.Arg141His)
|
rs121918284
|
0.00033
|
NM_005689.4(ABCB6):c.376del (p.Val126fs)
|
rs377591749
|
0.00033
|
NM_000129.4(F13A1):c.1984C>T (p.Arg662Ter)
|
rs267606789
|
0.00032
|
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)
|
rs75193786
|
0.00032
|
NM_014053.4(FLVCR1):c.1092+5G>A
|
rs556788423
|
0.00032
|
NM_018474.6(KIZ):c.226C>T (p.Arg76Ter)
|
rs202210819
|
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_001003841.3(SLC6A19):c.532C>T (p.Arg178Ter)
|
rs147837686
|
0.00031
|
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)
|
rs138249161
|
0.00031
|
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)
|
rs76917243
|
0.00030
|
NM_000492.4(CFTR):c.2988+1G>A
|
rs75096551
|
0.00030
|
NM_033629.6(TREX1):c.341G>A (p.Arg114His)
|
rs72556554
|
0.00030
|
NM_000372.5(TYR):c.140G>A (p.Gly47Asp)
|
rs61753180
|
0.00029
|
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)
|
rs113993959
|
0.00029
|
NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His)
|
rs146292819
|
0.00029
|
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val)
|
rs113994012
|
0.00029
|
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)
|
rs119103267
|
0.00029
|
NM_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00029
|
NM_000137.4(FAH):c.1062+5G>A
|
rs80338901
|
0.00028
|
NM_000228.3(LAMB3):c.958_1034dup (p.Asn345fs)
|
rs1553277702
|
0.00028
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)
|
rs113994098
|
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_000151.4(G6PC1):c.1039C>T (p.Gln347Ter)
|
rs80356487
|
0.00026
|
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)
|
rs11549407
|
0.00026
|
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
|
rs137853011
|
0.00026
|
NM_153240.5(NPHP3):c.2694-2_2694-1del
|
rs751527253
|
0.00026
|
NM_000071.3(CBS):c.919G>A (p.Gly307Ser)
|
rs121964962
|
0.00025
|
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)
|
rs80358259
|
0.00025
|
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)
|
rs5030860
|
0.00025
|
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter)
|
rs119455955
|
0.00025
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_000104.4(CYP1B1):c.1064_1076del (p.Arg355fs)
|
rs72549380
|
0.00024
|
NM_000237.3(LPL):c.644G>A (p.Gly215Glu)
|
rs118204057
|
0.00024
|
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg)
|
rs191759494
|
0.00024
|
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys)
|
rs121918221
|
0.00024
|
NM_000066.4(C8B):c.271C>T (p.Gln91Ter)
|
rs146187042
|
0.00023
|
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met)
|
rs144812594
|
0.00023
|
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter)
|
rs72549387
|
0.00022
|
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00022
|
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)
|
rs75527207
|
0.00022
|
NM_001142800.2(EYS):c.3443+1G>T
|
rs373441420
|
0.00022
|
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter)
|
rs776005417
|
0.00022
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
NM_021800.3(DNAJC12):c.524G>A (p.Trp175Ter)
|
rs370032864
|
0.00022
|
NM_000022.4(ADA):c.986C>T (p.Ala329Val)
|
rs121908715
|
0.00021
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu)
|
rs143473912
|
0.00021
|
NM_000520.6(HEXA):c.1073+1G>A
|
rs76173977
|
0.00021
|
NM_003085.5(SNCB):c.368C>A (p.Pro123His)
|
rs104893937
|
0.00021
|
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
|
rs80338948
|
0.00021
|
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys)
|
rs144181978
|
0.00021
|
NM_000277.3(PAH):c.143T>C (p.Leu48Ser)
|
rs5030841
|
0.00020
|
NM_001305581.2(LRMDA):c.150dup (p.Ala51fs)
|
rs587776953
|
0.00020
|
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)
|
rs201502401
|
0.00020
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)
|
rs61750120
|
0.00019
|
NM_000352.6(ABCC8):c.3989-9G>A
|
rs151344623
|
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_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)
|
rs143944436
|
0.00019
|
NM_001171.6(ABCC6):c.1132C>T (p.Gln378Ter)
|
rs72650699
|
0.00019
|
NM_003784.4(SERPINB7):c.796C>T (p.Arg266Ter)
|
rs142859678
|
0.00019
|
NM_006019.4(TCIRG1):c.1674-1G>A
|
rs139617644
|
0.00019
|
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile)
|
rs200644381
|
0.00019
|
NM_018131.5(CEP55):c.256C>T (p.Arg86Ter)
|
rs141458677
|
0.00019
|
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln)
|
rs202160208
|
0.00019
|
NM_000132.4(F8):c.396A>C (p.Glu132Asp)
|
rs137852388
|
0.00018
|
NM_000159.4(GCDH):c.1213A>G (p.Met405Val)
|
rs141437721
|
0.00018
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro)
|
rs121909379
|
0.00018
|
NM_001282225.2(ADA2):c.973-2A>G
|
rs139750129
|
0.00018
|
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp)
|
rs62638191
|
0.00018
|
NM_005373.3(MPL):c.79+2T>A
|
rs146249964
|
0.00018
|
NM_031889.3(ENAM):c.1259_1260insAG (p.Pro422fs)
|
rs587776588
|
0.00018
|
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly)
|
rs201375579
|
0.00017
|
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys)
|
rs118203943
|
0.00017
|
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)
|
rs200389141
|
0.00017
|
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
|
rs61751392
|
0.00017
|
NM_000558.5(HBA1):c.96-1G>A
|
rs34883113
|
0.00017
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
NM_006214.4(PHYH):c.135-2A>G
|
rs201578674
|
0.00017
|
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys)
|
rs143441644
|
0.00017
|
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)
|
rs104893851
|
0.00017
|
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)
|
rs147764579
|
0.00016
|
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)
|
rs200287952
|
0.00016
|
NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp)
|
rs34993780
|
0.00016
|
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr)
|
rs121918019
|
0.00016
|
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)
|
rs80034486
|
0.00016
|
NM_006556.4(PMVK):c.79G>T (p.Glu27Ter)
|
rs373000976
|
0.00016
|
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln)
|
rs121907932
|
0.00016
|
NM_057176.3(BSND):c.139G>A (p.Gly47Arg)
|
rs74315289
|
0.00016
|
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)
|
rs141656719
|
0.00015
|
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys)
|
rs139444207
|
0.00015
|
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)
|
rs121907954
|
0.00015
|
NM_000159.4(GCDH):c.1240G>A (p.Glu414Lys)
|
rs147611168
|
0.00014
|
NM_000204.5(CFI):c.772G>A (p.Ala258Thr)
|
rs199688124
|
0.00014
|
NM_000275.3(OCA2):c.1182+1G>A
|
rs371963034
|
0.00014
|
NM_000277.3(PAH):c.1042C>G (p.Leu348Val)
|
rs62516092
|
0.00014
|
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn)
|
rs148032587
|
0.00014
|
NM_000717.5(CA4):c.40C>T (p.Arg14Trp)
|
rs104894559
|
0.00014
|
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg)
|
rs142808899
|
0.00014
|
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys)
|
rs756856188
|
0.00014
|
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)
|
rs200094982
|
0.00014
|
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)
|
rs28941784
|
0.00014
|
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)
|
rs199840367
|
0.00014
|
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)
|
rs121434274
|
0.00013
|
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)
|
rs121908752
|
0.00013
|
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)
|
rs200563280
|
0.00013
|
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)
|
rs121908102
|
0.00013
|
NM_001048174.2(MUTYH):c.849+3A>C
|
rs587780751
|
0.00013
|
NM_001126128.2(PROK2):c.163del (p.Ser54_Ile55insTer)
|
rs554675432
|
0.00013
|
NM_002225.5(IVD):c.358G>A (p.Gly120Arg)
|
rs142761835
|
0.00013
|
NM_005548.3(KARS1):c.599C>T (p.Pro200Leu)
|
rs201650281
|
0.00013
|
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)
|
rs71530923
|
0.00013
|
NM_006929.5(SKIC2):c.3187C>T (p.Arg1063Ter)
|
rs138923214
|
0.00013
|
NM_021628.3(ALOXE3):c.700C>T (p.Arg234Ter)
|
rs121434233
|
0.00013
|
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)
|
rs62645748
|
0.00013
|
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)
|
rs74597325
|
0.00012
|
NM_001002755.4(NFU1):c.622G>T (p.Gly208Cys)
|
rs374514431
|
0.00012
|
NM_001267052.2(UNC45B):c.2255G>A (p.Arg752Gln)
|
rs139715157
|
0.00012
|
NM_001379610.1(SPINK1):c.194+2T>C
|
rs148954387
|
0.00012
|
NM_016222.4(DDX41):c.3G>A (p.Met1Ile)
|
rs141601766
|
0.00012
|
NM_020365.5(EIF2B3):c.260C>T (p.Ala87Val)
|
rs113994022
|
0.00012
|
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)
|
rs121917777
|
0.00012
|
NM_194248.3(OTOF):c.2153G>A (p.Trp718Ter)
|
rs111033383
|
0.00012
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
0.00012
|
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met)
|
rs72552255
|
0.00011
|
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter)
|
rs35138315
|
0.00011
|
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp)
|
rs104894637
|
0.00011
|
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)
|
rs372030650
|
0.00011
|
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn)
|
rs62644499
|
0.00011
|
NM_000283.4(PDE6B):c.1540del (p.Leu514fs)
|
rs398123298
|
0.00011
|
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser)
|
rs104894317
|
0.00011
|
NM_000492.3(CFTR):c.3718-2477C>T
|
rs75039782
|
0.00011
|
NM_000492.4(CFTR):c.489+1G>T
|
rs78756941
|
0.00011
|
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)
|
rs118192172
|
0.00011
|
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)
|
rs121918244
|
0.00011
|
NM_001025356.3(ANO6):c.1387-1G>T
|
rs374664255
|
0.00011
|
NM_001126108.2(SLC12A3):c.961C>T (p.Arg321Trp)
|
rs150046661
|
0.00011
|
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)
|
rs199422209
|
0.00011
|
NM_001171.6(ABCC6):c.1553G>A (p.Arg518Gln)
|
rs72653772
|
0.00011
|
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)
|
rs80338686
|
0.00011
|
NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr)
|
rs552436294
|
0.00011
|
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter)
|
rs370880399
|
0.00011
|
NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly)
|
rs11568372
|
0.00011
|
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)
|
rs104894397
|
0.00011
|
NM_014625.4(NPHS2):c.868G>A (p.Val290Met)
|
rs200482683
|
0.00011
|
NM_017866.6(TMEM70):c.317-2A>G
|
rs183973249
|
0.00011
|
NM_018122.5(DARS2):c.455G>T (p.Cys152Phe)
|
rs121918208
|
0.00011
|
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)
|
rs140511594
|
0.00011
|
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys)
|
rs74315396
|
0.00011
|
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter)
|
rs118204429
|
0.00010
|
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu)
|
rs28942074
|
0.00010
|
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu)
|
rs543206298
|
0.00010
|
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)
|
rs5030851
|
0.00010
|
NM_000540.3(RYR1):c.10348-6C>G
|
rs193922837
|
0.00010
|
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp)
|
rs201114717
|
0.00010
|
NM_001194998.2(CEP152):c.3249del (p.Val1084fs)
|
rs754267846
|
0.00010
|
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter)
|
rs369227537
|
0.00010
|
NM_006208.3(ENPP1):c.913C>A (p.Pro305Thr)
|
rs374270497
|
0.00010
|
NM_006371.5(CRTAP):c.471+2C>A
|
rs137853943
|
0.00010
|
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)
|
rs546989392
|
0.00010
|
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter)
|
rs150419186
|
0.00010
|
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)
|
rs200198778
|
0.00010
|
NM_016401.4(HIKESHI):c.160G>C (p.Val54Leu)
|
rs202003795
|
0.00010
|
NM_020812.4(DOCK6):c.3190_3191del (p.Leu1064fs)
|
rs747575528
|
0.00010
|
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)
|
rs121908177
|
0.00010
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
NM_152564.5(VPS13B):c.6657+1G>A
|
rs180177366
|
0.00010
|
NM_176824.3(BBS7):c.968A>G (p.His323Arg)
|
rs119466001
|
0.00010
|
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter)
|
rs373525781
|
0.00009
|
NM_000152.5(GAA):c.1979G>A (p.Arg660His)
|
rs374143224
|
0.00009
|
NM_000277.3(PAH):c.117C>G (p.Phe39Leu)
|
rs62642926
|
0.00009
|
NM_000392.5(ABCC2):c.3449G>A (p.Arg1150His)
|
rs72558200
|
0.00009
|
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp)
|
rs121913026
|
0.00009
|
NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr)
|
rs111033302
|
0.00009
|
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)
|
rs121909011
|
0.00009
|
NM_000558.5(HBA1):c.237del (p.Asn79fs)
|
rs767911847
|
0.00009
|
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)
|
rs140342925
|
0.00009
|
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter)
|
rs373740199
|
0.00009
|
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr)
|
rs121909100
|
0.00009
|
NM_002979.5(SCP2):c.825+1G>T
|
rs144132787
|
0.00009
|
NM_003690.5(PRKRA):c.665C>T (p.Pro222Leu)
|
rs121434410
|
0.00009
|
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)
|
rs373190458
|
0.00009
|
NM_014425.5(INVS):c.2695C>T (p.Arg899Ter)
|
rs200844390
|
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_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)
|
rs137852834
|
0.00009
|
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)
|
rs201893408
|
0.00009
|
NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala)
|
rs28940576
|
0.00009
|
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp)
|
rs121908003
|
0.00008
|
NM_000053.4(ATP7B):c.2731-2A>G
|
rs367956522
|
0.00008
|
NM_000071.3(CBS):c.1224-2A>C
|
rs375846341
|
0.00008
|
NM_000126.4(ETFA):c.797C>T (p.Thr266Met)
|
rs119458970
|
0.00008
|
NM_000137.4(FAH):c.1069G>T (p.Glu357Ter)
|
rs121965075
|
0.00008
|
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)
|
rs5030856
|
0.00008
|
NM_000293.3(PHKB):c.2326C>T (p.Gln776Ter)
|
rs149244943
|
0.00008
|
NM_000492.4(CFTR):c.1585-1G>A
|
rs76713772
|
0.00008
|
NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp)
|
rs62641228
|
0.00008
|
NM_002693.3(POLG):c.1880G>A (p.Arg627Gln)
|
rs375305567
|
0.00008
|
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)
|
rs139590686
|
0.00008
|
NM_003041.4(SLC5A2):c.500del (p.Gln167fs)
|
rs267607067
|
0.00008
|
NM_004614.5(TK2):c.416C>T (p.Ala139Val)
|
rs281865494
|
0.00008
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
NM_182916.3(TRNT1):c.668T>C (p.Ile223Thr)
|
rs370011798
|
0.00008
|
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe)
|
rs121918181
|
0.00007
|
NM_000277.3(PAH):c.204A>T (p.Arg68Ser)
|
rs76394784
|
0.00007
|
NM_000277.3(PAH):c.473G>A (p.Arg158Gln)
|
rs5030843
|
0.00007
|
NM_000282.4(PCCA):c.1284+1G>A
|
rs752761437
|
0.00007
|
NM_000343.4(SLC5A1):c.1370A>G (p.Gln457Arg)
|
rs200401846
|
0.00007
|
NM_000349.3(STAR):c.64+1G>T
|
rs765968701
|
0.00007
|
NM_000478.6(ALPL):c.881A>C (p.Asp294Ala)
|
rs121918002
|
0.00007
|
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp)
|
rs7769409
|
0.00007
|
NM_000500.9(CYP21A2):c.850A>G (p.Met284Val)
|
rs770199817
|
0.00007
|
NM_000518.5(HBB):c.92+6T>C
|
rs35724775
|
0.00007
|
NM_000781.3(CYP11A1):c.835del (p.Ile279fs)
|
rs757299093
|
0.00007
|
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr)
|
rs749909863
|
0.00007
|
NM_001370658.1(BTD):c.566G>A (p.Arg189His)
|
rs398123139
|
0.00007
|
NM_004320.6(ATP2A1):c.100G>T (p.Glu34Ter)
|
rs141559558
|
0.00007
|
NM_014239.4(EIF2B2):c.638A>G (p.Glu213Gly)
|
rs104894425
|
0.00007
|
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)
|
rs121918243
|
0.00007
|
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg)
|
rs121908646
|
0.00007
|
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr)
|
rs760222236
|
0.00007
|
NM_181426.2(CCDC39):c.357+1G>C
|
rs397515392
|
0.00007
|
NM_198239.2(CCN6):c.862_863dup (p.Gln289fs)
|
rs863223286
|
0.00007
|
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter)
|
rs104894419
|
0.00007
|
NM_000022.4(ADA):c.646G>A (p.Gly216Arg)
|
rs121908723
|
0.00006
|
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr)
|
rs121908525
|
0.00006
|
NM_000048.4(ASL):c.1366C>T (p.Arg456Trp)
|
rs759396688
|
0.00006
|
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln)
|
rs121907996
|
0.00006
|
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter)
|
rs80358638
|
0.00006
|
NM_000071.3(CBS):c.572C>T (p.Thr191Met)
|
rs121964973
|
0.00006
|
NM_000092.5(COL4A4):c.3022G>A (p.Gly1008Arg)
|
rs371172166
|
0.00006
|
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter)
|
rs148100796
|
0.00006
|
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter)
|
rs80356680
|
0.00006
|
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)
|
rs28940578
|
0.00006
|
NM_000277.3(PAH):c.814G>T (p.Gly272Ter)
|
rs62514952
|
0.00006
|
NM_000310.4(PPT1):c.223A>C (p.Thr75Pro)
|
rs137852696
|
0.00006
|
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn)
|
rs62642574
|
0.00006
|
NM_000350.3(ABCA4):c.768G>T (p.Val256=)
|
rs62645944
|
0.00006
|
NM_000372.5(TYR):c.230G>A (p.Arg77Gln)
|
rs61753185
|
0.00006
|
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp)
|
rs144467873
|
0.00006
|
NM_000392.5(ABCC2):c.974C>G (p.Ser325Ter)
|
rs371866713
|
0.00006
|
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn)
|
rs121908755
|
0.00006
|
NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr)
|
rs75549581
|
0.00006
|
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)
|
rs78769542
|
0.00006
|
NM_000518.5(HBB):c.79G>A (p.Glu27Lys)
|
rs33950507
|
0.00006
|
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)
|
rs121918593
|
0.00006
|
NM_000642.3(AGL):c.4260-12A>G
|
rs369973784
|
0.00006
|
NM_001015880.2(PAPSS2):c.121C>T (p.Arg41Ter)
|
rs201203612
|
0.00006
|
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)
|
rs137853190
|
0.00006
|
NM_001267550.2(TTN):c.39974-11T>G
|
rs758597536
|
0.00006
|
NM_001277115.2(DNAH11):c.6244C>T (p.Arg2082Ter)
|
rs200693106
|
0.00006
|
NM_001282225.2(ADA2):c.1072G>A (p.Gly358Arg)
|
rs45511697
|
0.00006
|
NM_001358530.2(MOCS1):c.418+1G>A
|
rs141982812
|
0.00006
|
NM_001360.3(DHCR7):c.1210C>T (p.Arg404Cys)
|
rs61757582
|
0.00006
|
NM_001374385.1(ATP8B1):c.923G>T (p.Gly308Val)
|
rs111033609
|
0.00006
|
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu)
|
rs80356779
|
0.00006
|
NM_001930.4(DHPS):c.518A>G (p.Asn173Ser)
|
rs758100382
|
0.00006
|
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr)
|
rs752623413
|
0.00006
|
NM_003124.5(SPR):c.448A>G (p.Arg150Gly)
|
rs104893665
|
0.00006
|
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)
|
rs121908680
|
0.00006
|
NM_003742.4(ABCB11):c.2012-8T>G
|
rs769910565
|
0.00006
|
NM_004562.3(PRKN):c.98G>A (p.Arg33Gln)
|
rs147757966
|
0.00006
|
NM_004628.5(XPC):c.2251-1G>C
|
rs754673606
|
0.00006
|
NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His)
|
rs121908611
|
0.00006
|
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg)
|
rs144081869
|
0.00006
|
NM_007348.4(ATF6):c.970C>T (p.Arg324Cys)
|
rs761357250
|
0.00006
|
NM_014249.4(NR2E3):c.481del (p.Thr161fs)
|
rs759339012
|
0.00006
|
NM_014425.5(INVS):c.1453del (p.Gln485fs)
|
rs753348470
|
0.00006
|
NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter)
|
rs140039128
|
0.00006
|
NM_014714.4(IFT140):c.2399+1G>T
|
rs376586707
|
0.00006
|
NM_017671.5(FERMT1):c.811C>T (p.Arg271Ter)
|
rs121918293
|
0.00006
|
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)
|
rs62638179
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_025137.4(SPG11):c.6598A>T (p.Lys2200Ter)
|
rs141263564
|
0.00006
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
NM_148919.4(PSMB8):c.224C>T (p.Thr75Met)
|
rs748082671
|
0.00006
|
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter)
|
rs146960401
|
0.00006
|
NM_170784.3(MKKS):c.121G>C (p.Gly41Arg)
|
rs766132697
|
0.00006
|
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)
|
rs74315398
|
0.00006
|
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)
|
rs200379491
|
0.00005
|
NM_000094.4(COL7A1):c.7864C>T (p.Arg2622Trp)
|
rs139318843
|
0.00005
|
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn)
|
rs753472891
|
0.00005
|
NM_000257.4(MYH7):c.1988G>A (p.Arg663His)
|
rs371898076
|
0.00005
|
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)
|
rs111033178
|
0.00005
|
NM_000314.8(PTEN):c.802-2A>T
|
rs587782455
|
0.00005
|
NM_000463.3(UGT1A1):c.524T>A (p.Leu175Gln)
|
rs72551341
|
0.00005
|
NM_000500.9(CYP21A2):c.1024C>T (p.Arg342Trp)
|
rs72552755
|
0.00005
|
NM_000518.5(HBB):c.316-197C>T
|
rs34451549
|
0.00005
|
NM_000520.6(HEXA):c.533G>A (p.Arg178His)
|
rs28941770
|
0.00005
|
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)
|
rs118192173
|
0.00005
|
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter)
|
rs372827156
|
0.00005
|
NM_001199107.2(TBC1D24):c.1008del (p.His336fs)
|
rs398122967
|
0.00005
|
NM_001267550.2(TTN):c.86821+2T>A
|
rs397517735
|
0.00005
|
NM_003227.4(TFR2):c.2014C>T (p.Gln672Ter)
|
rs1051249273
|
0.00005
|
NM_003322.6(TULP1):c.187G>T (p.Gly63Ter)
|
rs757725696
|
0.00005
|
NM_004646.4(NPHS1):c.2491C>T (p.Arg831Cys)
|
rs386833915
|
0.00005
|
NM_012106.4(ARL2BP):c.207+1G>A
|
rs199830550
|
0.00005
|
NM_012186.3(FOXE3):c.244A>G (p.Met82Val)
|
rs746531116
|
0.00005
|
NM_014252.4(SLC25A15):c.535C>T (p.Arg179Ter)
|
rs104894429
|
0.00005
|
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)
|
rs121918203
|
0.00005
|
NM_018238.4(AGK):c.297+2T>C
|
rs765471424
|
0.00005
|
NM_018668.5(VPS33B):c.277C>T (p.Arg93Ter)
|
rs368124813
|
0.00005
|
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)
|
rs768933093
|
0.00005
|
NM_033305.3(VPS13A):c.6094C>T (p.Arg2032Ter)
|
rs764376151
|
0.00005
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys)
|
rs372710475
|
0.00005
|
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs)
|
rs398124502
|
0.00005
|
NM_145868.2(ANXA11):c.112G>A (p.Gly38Arg)
|
rs142083484
|
0.00005
|
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)
|
rs745832866
|
0.00004
|
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)
|
rs587781347
|
0.00004
|
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)
|
rs587779852
|
0.00004
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00004
|
NM_000071.3(CBS):c.341C>T (p.Ala114Val)
|
rs121964964
|
0.00004
|
NM_000071.3(CBS):c.451G>A (p.Gly151Arg)
|
rs373782713
|
0.00004
|
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser)
|
rs80356701
|
0.00004
|
NM_000128.4(F11):c.325+1G>A
|
rs140190776
|
0.00004
|
NM_000133.4(F9):c.316G>A (p.Gly106Ser)
|
rs137852233
|
0.00004
|
NM_000191.3(HMGCL):c.698A>G (p.His233Arg)
|
rs727503963
|
0.00004
|
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys)
|
rs111033214
|
0.00004
|
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys)
|
rs147036053
|
0.00004
|
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln)
|
rs5030859
|
0.00004
|
NM_000277.3(PAH):c.261C>A (p.Ser87Arg)
|
rs62516151
|
0.00004
|
NM_000277.3(PAH):c.727C>T (p.Arg243Ter)
|
rs5030846
|
0.00004
|
NM_000303.3(PMM2):c.24del (p.Cys9fs)
|
rs768021123
|
0.00004
|
NM_000324.3(RHAG):c.157+1G>A
|
rs375508949
|
0.00004
|
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)
|
rs61751282
|
0.00004
|
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr)
|
rs150774447
|
0.00004
|
NM_000350.3(ABCA4):c.1958G>A (p.Arg653His)
|
rs141823837
|
0.00004
|
NM_000350.3(ABCA4):c.4539+2028C>T
|
rs869320785
|
0.00004
|
NM_000371.4(TTR):c.148G>A (p.Val50Met)
|
rs28933979
|
0.00004
|
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)
|
rs121908011
|
0.00004
|
NM_000372.5(TYR):c.832C>T (p.Arg278Ter)
|
rs62645904
|
0.00004
|
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter)
|
rs121913572
|
0.00004
|
NM_000454.5(SOD1):c.14C>T (p.Ala5Val)
|
rs121912442
|
0.00004
|
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu)
|
rs121918010
|
0.00004
|
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)
|
rs368505753
|
0.00004
|
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter)
|
rs74767530
|
0.00004
|
NM_000500.9(CYP21A2):c.1226G>A (p.Arg409His)
|
rs1351045983
|
0.00004
|
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)
|
rs121913603
|
0.00004
|
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)
|
rs377178986
|
0.00004
|
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)
|
rs118192140
|
0.00004
|
NM_000540.3(RYR1):c.6274+1G>A
|
rs1226228092
|
0.00004
|
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)
|
rs118192177
|
0.00004
|
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp)
|
rs182812968
|
0.00004
|
NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln)
|
rs281865424
|
0.00004
|
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)
|
rs587778818
|
0.00004
|
NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter)
|
rs188850202
|
0.00004
|
NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs)
|
rs774258585
|
0.00004
|
NM_001041.4(SI):c.1837G>T (p.Glu613Ter)
|
rs201055347
|
0.00004
|
NM_001048174.2(MUTYH):c.928C>T (p.Gln310Ter)
|
rs587780082
|
0.00004
|
NM_001126108.2(SLC12A3):c.626G>A (p.Arg209Gln)
|
rs758035631
|
0.00004
|
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val)
|
rs140551719
|
0.00004
|
NM_001171.6(ABCC6):c.1552C>T (p.Arg518Ter)
|
rs72650700
|
0.00004
|
NM_001171.6(ABCC6):c.3412C>T (p.Arg1138Trp)
|
rs28939701
|
0.00004
|
NM_001252024.2(TRPM1):c.3064C>T (p.Arg1022Ter)
|
rs369742878
|
0.00004
|
NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter)
|
rs529495094
|
0.00004
|
NM_001374385.1(ATP8B1):c.2821C>T (p.Arg941Ter)
|
rs374340059
|
0.00004
|
NM_001376571.1(MADD):c.979C>T (p.Arg327Ter)
|
rs147179561
|
0.00004
|
NM_002633.3(PGM1):c.787G>T (p.Asp263Tyr)
|
rs587777404
|
0.00004
|
NM_002693.3(POLG):c.1433+1G>A
|
rs771623994
|
0.00004
|
NM_003052.5(SLC34A1):c.644+1G>A
|
rs201304511
|
0.00004
|
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys)
|
rs72549395
|
0.00004
|
NM_003906.5(MCM3AP):c.3476_3477del (p.Gln1159fs)
|
rs756431692
|
0.00004
|
NM_003982.4(SLC7A7):c.625+1G>A
|
rs386833822
|
0.00004
|
NM_004366.6(CLCN2):c.1412G>A (p.Arg471His)
|
rs771507094
|
0.00004
|
NM_004444.5(EPHB4):c.1054C>T (p.Arg352Ter)
|
rs898898802
|
0.00004
|
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser)
|
rs138656762
|
0.00004
|
NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg)
|
rs121908127
|
0.00004
|
NM_005276.4(GPD1):c.805C>T (p.Arg269Trp)
|
rs761342764
|
0.00004
|
NM_005518.4(HMGCS2):c.1270C>T (p.Arg424Ter)
|
rs137852637
|
0.00004
|
NM_005912.3(MC4R):c.896C>A (p.Pro299His)
|
rs52804924
|
0.00004
|
NM_007055.4(POLR3A):c.2617C>T (p.Arg873Ter)
|
rs148932047
|
0.00004
|
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs)
|
rs730881700
|
0.00004
|
NM_012193.4(FZD4):c.313A>G (p.Met105Val)
|
rs80358284
|
0.00004
|
NM_014140.4(SMARCAL1):c.863-2A>G
|
rs761546902
|
0.00004
|
NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp)
|
rs121908484
|
0.00004
|
NM_015072.5(TTLL5):c.2132_2135dup (p.Met712fs)
|
rs781415819
|
0.00004
|
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)
|
rs121918198
|
0.00004
|
NM_015450.3(POT1):c.1087C>T (p.Arg363Ter)
|
rs756198077
|
0.00004
|
NM_017433.5(MYO3A):c.1193C>A (p.Ser398Ter)
|
rs769540160
|
0.00004
|
NM_017547.4(FOXRED1):c.694C>T (p.Gln232Ter)
|
rs267606829
|
0.00004
|
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr)
|
rs267606960
|
0.00004
|
NM_020366.4(RPGRIP1):c.2302C>T (p.Arg768Ter)
|
rs75459701
|
0.00004
|
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr)
|
rs121908372
|
0.00004
|
NM_020778.5(ALPK3):c.3175C>T (p.Arg1059Ter)
|
rs749465164
|
0.00004
|
NM_025074.7(FRAS1):c.370C>T (p.Arg124Ter)
|
rs377046630
|
0.00004
|
NM_080605.4(B3GALT6):c.1A>G (p.Met1Val)
|
rs786200938
|
0.00004
|
NM_138572.3(TAF8):c.781-1G>A
|
rs371261267
|
0.00004
|
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr)
|
rs753307105
|
0.00004
|
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=)
|
rs776060304
|
0.00004
|
NM_198076.6(COX20):c.41A>G (p.Lys14Arg)
|
rs1057521790
|
0.00004
|
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)
|
rs62635654
|
0.00004
|
NM_206933.4(USH2A):c.8682-9A>G
|
rs372347027
|
0.00004
|
NM_206933.4(USH2A):c.9570+1G>A
|
rs760225886
|
0.00004
|
NM_213599.3(ANO5):c.1210C>T (p.Arg404Ter)
|
rs566415362
|
0.00004
|
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln)
|
rs751995154
|
0.00003
|
NM_000026.4(ADSL):c.736A>G (p.Lys246Glu)
|
rs119450944
|
0.00003
|
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser)
|
rs121907990
|
0.00003
|
NM_000059.4(BRCA2):c.3680_3681del (p.Leu1227fs)
|
rs80359395
|
0.00003
|
NM_000059.4(BRCA2):c.9235del (p.Val3079fs)
|
rs397507422
|
0.00003
|
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu)
|
rs150885084
|
0.00003
|
NM_000094.4(COL7A1):c.8440C>T (p.Arg2814Ter)
|
rs143457874
|
0.00003
|
NM_000128.4(F11):c.1489C>T (p.Arg497Ter)
|
rs375422404
|
0.00003
|
NM_000135.4(FANCA):c.3828+1G>C
|
rs1432988639
|
0.00003
|
NM_000156.6(GAMT):c.522G>A (p.Trp174Ter)
|
rs370421531
|
0.00003
|
NM_000170.3(GLDC):c.2316-1G>A
|
rs386833554
|
0.00003
|
NM_000180.4(GUCY2D):c.2595del (p.Lys866fs)
|
rs1200134985
|
0.00003
|
NM_000256.3(MYBPC3):c.1224-52G>A
|
rs786204336
|
0.00003
|
NM_000257.4(MYH7):c.2221G>A (p.Gly741Arg)
|
rs121913632
|
0.00003
|
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)
|
rs3218716
|
0.00003
|
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu)
|
rs780296175
|
0.00003
|
NM_000277.3(PAH):c.311C>A (p.Ala104Asp)
|
rs62642929
|
0.00003
|
NM_000277.3(PAH):c.60+5G>T
|
rs62514895
|
0.00003
|
NM_000313.4(PROS1):c.77-1G>C
|
rs759677822
|
0.00003
|
NM_000317.3(PTS):c.84-291A>G
|
rs1480995114
|
0.00003
|
NM_000429.3(MAT1A):c.529C>T (p.Arg177Trp)
|
rs376757912
|
0.00003
|
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter)
|
rs587780021
|
0.00003
|
NM_000478.6(ALPL):c.892G>A (p.Glu298Lys)
|
rs121918017
|
0.00003
|
NM_000492.4(CFTR):c.1040G>A (p.Arg347His)
|
rs77932196
|
0.00003
|
NM_000492.4(CFTR):c.1680-886A>G
|
rs397508266
|
0.00003
|
NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter)
|
rs121908761
|
0.00003
|
NM_000518.5(HBB):c.-151C>T
|
rs63751208
|
0.00003
|
NM_000518.5(HBB):c.51del (p.Lys18fs)
|
rs35662066
|
0.00003
|
NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu)
|
rs368874586
|
0.00003
|
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter)
|
rs752199191
|
0.00003
|
NM_000642.3(AGL):c.2681+1G>A
|
rs201201443
|
0.00003
|
NM_000660.7(TGFB1):c.466C>T (p.Arg156Cys)
|
rs200482214
|
0.00003
|
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln)
|
rs121908097
|
0.00003
|
NM_001005242.3(PKP2):c.2014-1G>C
|
rs193922674
|
0.00003
|
NM_001010867.4(IBA57):c.316del (p.Thr106fs)
|
rs757794637
|
0.00003
|
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)
|
rs104894718
|
0.00003
|
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe)
|
rs587782228
|
0.00003
|
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter)
|
rs374417889
|
0.00003
|
NM_001114753.3(ENG):c.1134G>A (p.Ala378=)
|
rs1329127701
|
0.00003
|
NM_001126108.2(SLC12A3):c.1670-191C>T
|
rs374182921
|
0.00003
|
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter)
|
rs727503911
|
0.00003
|
NM_001146079.2(CLDN14):c.167G>A (p.Trp56Ter)
|
rs371100799
|
0.00003
|
NM_001163435.3(TBCK):c.1363A>T (p.Lys455Ter)
|
rs376699648
|
0.00003
|
NM_001171.6(ABCC6):c.2420G>A (p.Arg807Gln)
|
rs72653794
|
0.00003
|
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter)
|
rs755459875
|
0.00003
|
NM_001267550.2(TTN):c.49648+2del
|
rs727504851
|
0.00003
|
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg)
|
rs143312232
|
0.00003
|
NM_001378609.3(OTOGL):c.574C>T (p.Arg192Ter)
|
rs397514588
|
0.00003
|
NM_001611.5(ACP5):c.325G>A (p.Gly109Arg)
|
rs781050795
|
0.00003
|
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)
|
rs201732356
|
0.00003
|
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)
|
rs376607329
|
0.00003
|
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter)
|
rs387906843
|
0.00003
|
NM_003119.4(SPG7):c.637C>T (p.Arg213Ter)
|
rs774774648
|
0.00003
|
NM_003742.4(ABCB11):c.2296G>A (p.Gly766Arg)
|
rs763782349
|
0.00003
|
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter)
|
rs111033297
|
0.00003
|
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)
|
rs773528125
|
0.00003
|
NM_004183.4(BEST1):c.388C>A (p.Arg130Ser)
|
rs750102662
|
0.00003
|
NM_004820.5(CYP7B1):c.889A>G (p.Thr297Ala)
|
rs587777222
|
0.00003
|
NM_005912.3(MC4R):c.750_751del (p.Ile251fs)
|
rs13447339
|
0.00003
|
NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr)
|
rs367543041
|
0.00003
|
NM_013339.4(ALG6):c.998C>T (p.Ala333Val)
|
rs121908443
|
0.00003
|
NM_014251.3(SLC25A13):c.615+5G>A
|
rs80338717
|
0.00003
|
NM_014845.6(FIG4):c.2459+1G>A
|
rs747768373
|
0.00003
|
NM_015665.6(AAAS):c.1191dup (p.Glu398fs)
|
rs746305979
|
0.00003
|
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln)
|
rs773450573
|
0.00003
|
NM_018972.4(GDAP1):c.845G>A (p.Arg282His)
|
rs375431837
|
0.00003
|
NM_025099.6(CTC1):c.2996_2997del (p.Pro999fs)
|
rs761922947
|
0.00003
|
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)
|
rs886042153
|
0.00003
|
NM_025114.4(CEP290):c.7048C>T (p.Gln2350Ter)
|
rs375548374
|
0.00003
|
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)
|
rs387906980
|
0.00003
|
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter)
|
rs147030232
|
0.00003
|
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala)
|
rs121908179
|
0.00003
|
NM_033028.5(BBS4):c.712-1G>A
|
rs377031435
|
0.00003
|
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser)
|
rs121908639
|
0.00003
|
NM_147127.5(EVC2):c.3659+2T>C
|
rs200300612
|
0.00003
|
NM_148960.3(CLDN19):c.59G>A (p.Gly20Asp)
|
rs118203979
|
0.00003
|
NM_152328.5(ADSS1):c.781G>A (p.Asp261Asn)
|
rs140614802
|
0.00003
|
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)
|
rs796051992
|
0.00003
|
NM_194323.3(OTOF):c.3515G>A (p.Arg1172Gln)
|
rs201326023
|
0.00003
|
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg)
|
rs1342455785
|
0.00003
|
NM_206933.4(USH2A):c.7595-3C>G
|
rs201657446
|
0.00003
|
NM_000018.4(ACADVL):c.1679-6G>A
|
rs113994171
|
0.00002
|
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser)
|
rs373771053
|
0.00002
|
NM_000048.4(ASL):c.436C>T (p.Arg146Trp)
|
rs199938613
|
0.00002
|
NM_000051.4(ATM):c.8786+1G>A
|
rs17174393
|
0.00002
|
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)
|
rs398123151
|
0.00002
|
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)
|
rs772708743
|
0.00002
|
NM_000094.4(COL7A1):c.7012C>T (p.Arg2338Ter)
|
rs745874032
|
0.00002
|
NM_000102.4(CYP17A1):c.1226C>G (p.Pro409Arg)
|
rs367833709
|
0.00002
|
NM_000104.4(CYP1B1):c.1330C>T (p.Arg444Ter)
|
rs377049098
|
0.00002
|
NM_000128.4(F11):c.1853T>G (p.Ile618Ser)
|
rs281875276
|
0.00002
|
NM_000132.4(F8):c.5123G>A (p.Arg1708His)
|
rs111033614
|
0.00002
|
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)
|
rs104886458
|
0.00002
|
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter)
|
rs377294947
|
0.00002
|
NM_000151.4(G6PC1):c.509G>A (p.Arg170Gln)
|
rs750470654
|
0.00002
|
NM_000159.4(GCDH):c.553G>A (p.Gly185Arg)
|
rs576948027
|
0.00002
|
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)
|
rs786201042
|
0.00002
|
NM_000256.3(MYBPC3):c.26-2A>G
|
rs376395543
|
0.00002
|
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter)
|
rs121913552
|
0.00002
|
NM_000313.4(PROS1):c.233C>T (p.Thr78Met)
|
rs6122
|
0.00002
|
NM_000342.4(SLC4A1):c.2102G>A (p.Gly701Asp)
|
rs121912748
|
0.00002
|
NM_000348.4(SRD5A2):c.16C>T (p.Gln6Ter)
|
rs9332960
|
0.00002
|
NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter)
|
rs139328569
|
0.00002
|
NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg)
|
rs764349043
|
0.00002
|
NM_000359.3(TGM1):c.232C>T (p.Arg78Ter)
|
rs760429286
|
0.00002
|
NM_000443.4(ABCB4):c.2211+1G>A
|
rs794727183
|
0.00002
|
NM_000465.4(BARD1):c.1212C>G (p.Tyr404Ter)
|
rs587782681
|
0.00002
|
NM_000466.3(PEX1):c.1239+1G>T
|
rs756876301
|
0.00002
|
NM_000466.3(PEX1):c.2730del (p.Leu910fs)
|
rs61750423
|
0.00002
|
NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr)
|
rs80055610
|
0.00002
|
NM_000492.4(CFTR):c.2491G>T (p.Glu831Ter)
|
rs397508387
|
0.00002
|
NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter)
|
rs78802634
|
0.00002
|
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter)
|
rs79850223
|
0.00002
|
NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys)
|
rs193922764
|
0.00002
|
NM_000540.3(RYR1):c.14173-2A>G
|
rs1189024951
|
0.00002
|
NM_000549.5(TSHB):c.205C>T (p.Gln69Ter)
|
rs121918670
|
0.00002
|
NM_001037.5(SCN1B):c.254G>A (p.Arg85His)
|
rs16969925
|
0.00002
|
NM_001080.3(ALDH5A1):c.691G>A (p.Glu231Lys)
|
rs751888532
|
0.00002
|
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp)
|
rs202218890
|
0.00002
|
NM_001142800.2(EYS):c.8606C>G (p.Ser2869Ter)
|
rs933169926
|
0.00002
|
NM_001171.6(ABCC6):c.3491G>A (p.Arg1164Gln)
|
rs63750457
|
0.00002
|
NM_001171.6(ABCC6):c.3661C>T (p.Arg1221Cys)
|
rs63751215
|
0.00002
|
NM_001244710.2(GFPT1):c.686-2A>G
|
rs1011196447
|
0.00002
|
NM_001298.3(CNGA3):c.450-1G>A
|
rs754158805
|
0.00002
|
NM_001365276.2(TNXB):c.2461C>T (p.Arg821Ter)
|
rs749890642
|
0.00002
|
NM_001372.4(DNAH9):c.2984del (p.Arg995fs)
|
rs771595064
|
0.00002
|
NM_002292.4(LAMB2):c.1477del (p.Cys493fs)
|
rs969481454
|
0.00002
|
NM_002292.4(LAMB2):c.3595C>T (p.Arg1199Ter)
|
rs754597019
|
0.00002
|
NM_002336.3(LRP6):c.1831C>T (p.Arg611Cys)
|
rs121918313
|
0.00002
|
NM_003896.4(ST3GAL5):c.862C>T (p.Arg288Ter)
|
rs104893668
|
0.00002
|
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)
|
rs771748289
|
0.00002
|
NM_005247.4(FGF3):c.310C>T (p.Arg104Ter)
|
rs121917704
|
0.00002
|
NM_005591.4(MRE11):c.659+1G>A
|
rs759130031
|
0.00002
|
NM_006031.6(PCNT):c.5992C>T (p.Gln1998Ter)
|
rs757577162
|
0.00002
|
NM_006736.6(DNAJB2):c.352+1G>A
|
rs756614404
|
0.00002
|
NM_006929.5(SKIC2):c.848G>A (p.Trp283Ter)
|
rs751026211
|
0.00002
|
NM_014714.4(IFT140):c.1147C>T (p.Gln383Ter)
|
rs1206753537
|
0.00002
|
NM_015102.5(NPHP4):c.3272del (p.Val1091fs)
|
rs1278089386
|
0.00002
|
NM_015909.4(NBAS):c.1749G>A (p.Trp583Ter)
|
rs770446752
|
0.00002
|
NM_017613.4(DONSON):c.877C>T (p.Arg293Ter)
|
rs542296982
|
0.00002
|
NM_017668.3(NDE1):c.130C>T (p.Arg44Ter)
|
rs747020521
|
0.00002
|
NM_018129.4(PNPO):c.673C>T (p.Arg225Cys)
|
rs769266169
|
0.00002
|
NM_018668.5(VPS33B):c.1225+5G>C
|
rs398122407
|
0.00002
|
NM_019098.5(CNGB3):c.1578+1G>A
|
rs372006750
|
0.00002
|
NM_019892.6(INPP5E):c.1760del (p.Val587fs)
|
rs775518991
|
0.00002
|
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer)
|
rs119103217
|
0.00002
|
NM_020632.3(ATP6V0A4):c.1231G>T (p.Asp411Tyr)
|
rs763982675
|
0.00002
|
NM_020661.4(AICDA):c.260G>C (p.Cys87Ser)
|
rs1260264247
|
0.00002
|
NM_021219.4(JAM2):c.685C>T (p.Arg229Ter)
|
rs781261918
|
0.00002
|
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter)
|
rs878855122
|
0.00002
|
NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer)
|
rs1555202584
|
0.00002
|
NM_024685.4(BBS10):c.687del (p.Val230fs)
|
rs761101213
|
0.00002
|
NM_025216.3(WNT10A):c.742C>T (p.Arg248Ter)
|
rs886039453
|
0.00002
|
NM_032043.3(BRIP1):c.1741C>T (p.Arg581Ter)
|
rs780020495
|
0.00002
|
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)
|
rs104886308
|
0.00002
|
NM_058216.3(RAD51C):c.706-2A>G
|
rs587780259
|
0.00002
|
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter)
|
rs201082169
|
0.00002
|
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)
|
rs148617572
|
0.00002
|
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg)
|
rs398124497
|
0.00002
|
NM_152281.3(GORAB):c.367G>T (p.Glu123Ter)
|
rs119455951
|
0.00002
|
NM_173689.7(CRB2):c.3291_3292del (p.Cys1098fs)
|
rs1064793849
|
0.00002
|
NM_178857.6(RP1L1):c.1107G>A (p.Trp369Ter)
|
rs567106336
|
0.00002
|
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys)
|
rs753966933
|
0.00002
|
NM_198428.3(BBS9):c.223C>T (p.Arg75Ter)
|
rs775081992
|
0.00002
|
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser)
|
rs375668376
|
0.00002
|
NM_207034.3(EDN3):c.293C>A (p.Thr98Lys)
|
rs745795470
|
0.00002
|
NR_003051.3(RMRP):n.-24_-12dup
|
rs781730798
|
0.00002
|
NM_000016.6(ACADM):c.362C>T (p.Thr121Ile)
|
rs121434283
|
0.00001
|
NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu)
|
rs118204017
|
0.00001
|
NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp)
|
rs1085307405
|
0.00001
|
NM_000026.4(ADSL):c.568C>T (p.Arg190Ter)
|
rs750614500
|
0.00001
|
NM_000037.4(ANK1):c.5497C>T (p.Arg1833Ter)
|
rs137852831
|
0.00001
|
NM_000038.6(APC):c.1213C>T (p.Arg405Ter)
|
rs587779780
|
0.00001
|
NM_000038.6(APC):c.3149del (p.Ala1050fs)
|
rs730882135
|
0.00001
|
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln)
|
rs727503809
|
0.00001
|
NM_000051.4(ATM):c.170G>A (p.Trp57Ter)
|
rs587779818
|
0.00001
|
NM_000051.4(ATM):c.2251-10T>G
|
rs730881346
|
0.00001
|
NM_000051.4(ATM):c.5290del (p.Leu1764fs)
|
rs587779846
|
0.00001
|
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)
|
rs139770721
|
0.00001
|
NM_000051.4(ATM):c.7630-2A>C
|
rs587779866
|
0.00001
|
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter)
|
rs753250853
|
0.00001
|
NM_000055.4(BCHE):c.1240C>T (p.Arg414Cys)
|
rs745364489
|
0.00001
|
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs)
|
rs367543024
|
0.00001
|
NM_000059.4(BRCA2):c.2092del (p.Leu698fs)
|
rs80359322
|
0.00001
|
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs)
|
rs80359380
|
0.00001
|
NM_000059.4(BRCA2):c.7115C>G (p.Ser2372Ter)
|
rs80358943
|
0.00001
|
NM_000059.4(BRCA2):c.7878G>A (p.Trp2626Ter)
|
rs80359013
|
0.00001
|
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His)
|
rs41293511
|
0.00001
|
NM_000059.4(BRCA2):c.8297del (p.Thr2766fs)
|
rs80359705
|
0.00001
|
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs)
|
rs80359773
|
0.00001
|
NM_000071.3(CBS):c.1111G>A (p.Val371Met)
|
rs372010465
|
0.00001
|
NM_000083.3(CLCN1):c.1129C>T (p.Arg377Ter)
|
rs201714423
|
0.00001
|
NM_000083.3(CLCN1):c.1488G>T (p.Arg496Ser)
|
rs121912801
|
0.00001
|
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg)
|
rs202147112
|
0.00001
|
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser)
|
rs181528936
|
0.00001
|
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter)
|
rs121912861
|
0.00001
|
NM_000092.5(COL4A4):c.489+1G>A
|
rs1040287646
|
0.00001
|
NM_000094.4(COL7A1):c.1837C>T (p.Arg613Ter)
|
rs759634066
|
0.00001
|
NM_000094.4(COL7A1):c.5047C>T (p.Arg1683Ter)
|
rs760063197
|
0.00001
|
NM_000094.4(COL7A1):c.5344G>A (p.Gly1782Arg)
|
rs374718902
|
0.00001
|
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys)
|
rs121912855
|
0.00001
|
NM_000094.4(COL7A1):c.7234C>T (p.Arg2412Ter)
|
rs1342522878
|
0.00001
|
NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter)
|
rs756931329
|
0.00001
|
NM_000102.4(CYP17A1):c.1084C>T (p.Arg362Cys)
|
rs104894142
|
0.00001
|
NM_000111.3(SLC26A3):c.614del (p.Leu205fs)
|
rs1264217866
|
0.00001
|
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr)
|
rs104894487
|
0.00001
|
NM_000128.4(F11):c.755+2T>C
|
rs1220869989
|
0.00001
|
NM_000132.4(F8):c.6623A>G (p.Gln2208Arg)
|
rs782198570
|
0.00001
|
NM_000133.4(F9):c.1150C>T (p.Arg384Ter)
|
rs137852261
|
0.00001
|
NM_000135.4(FANCA):c.1645C>T (p.Gln549Ter)
|
rs779745863
|
0.00001
|
NM_000136.3(FANCC):c.166-2A>G
|
rs587777945
|
0.00001
|
NM_000136.3(FANCC):c.844-1G>C
|
rs774209201
|
0.00001
|
NM_000138.5(FBN1):c.5788+5G>A
|
rs193922219
|
0.00001
|
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr)
|
rs121913105
|
0.00001
|
NM_000143.4(FH):c.1020T>A (p.Asn340Lys)
|
rs398123159
|
0.00001
|
NM_000143.4(FH):c.1255T>C (p.Ser419Pro)
|
rs200004220
|
0.00001
|
NM_000155.4(GALT):c.425T>A (p.Met142Lys)
|
rs111033695
|
0.00001
|
NM_000157.4(GBA1):c.604C>T (p.Arg202Ter)
|
rs1009850780
|
0.00001
|
NM_000162.5(GCK):c.370G>A (p.Asp124Asn)
|
rs759072800
|
0.00001
|
NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln)
|
rs386833524
|
0.00001
|
NM_000187.4(HGD):c.1007-2A>T
|
rs1559781702
|
0.00001
|
NM_000190.4(HMBS):c.673C>T (p.Arg225Ter)
|
rs1325031228
|
0.00001
|
NM_000211.5(ITGB2):c.1777C>T (p.Arg593Cys)
|
rs137852609
|
0.00001
|
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter)
|
rs397508097
|
0.00001
|
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser)
|
rs199473394
|
0.00001
|
NM_000218.3(KCNQ1):c.728G>A (p.Arg243His)
|
rs120074196
|
0.00001
|
NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp)
|
rs120074194
|
0.00001
|
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu)
|
rs199472730
|
0.00001
|
NM_000237.3(LPL):c.701C>T (p.Pro234Leu)
|
rs118204060
|
0.00001
|
NM_000237.3(LPL):c.808C>T (p.Arg270Cys)
|
rs118204077
|
0.00001
|
NM_000245.4(MET):c.3281A>G (p.His1094Arg)
|
rs121913243
|
0.00001
|
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)
|
rs63751275
|
0.00001
|
NM_000255.4(MMUT):c.654A>C (p.Gln218His)
|
rs1446389693
|
0.00001
|
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter)
|
rs368765949
|
0.00001
|
NM_000256.3(MYBPC3):c.821+1G>A
|
rs397516073
|
0.00001
|
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys)
|
rs121913625
|
0.00001
|
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly)
|
rs397516161
|
0.00001
|
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter)
|
rs111033201
|
0.00001
|
NM_000260.4(MYO7A):c.2513G>A (p.Trp838Ter)
|
rs1334199217
|
0.00001
|
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro)
|
rs368657015
|
0.00001
|
NM_000271.5(NPC1):c.1947+5G>C
|
rs770321568
|
0.00001
|
NM_000271.5(NPC1):c.1990G>A (p.Val664Met)
|
rs376213990
|
0.00001
|
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs)
|
rs756815030
|
0.00001
|
NM_000275.3(OCA2):c.1555del (p.Val519fs)
|
rs765235945
|
0.00001
|
NM_000277.3(PAH):c.1340C>A (p.Ala447Asp)
|
rs76542238
|
0.00001
|
NM_000277.3(PAH):c.212G>A (p.Arg71His)
|
rs62508695
|
0.00001
|
NM_000277.3(PAH):c.442G>A (p.Gly148Ser)
|
rs80297647
|
0.00001
|
NM_000277.3(PAH):c.653G>T (p.Gly218Val)
|
rs62514933
|
0.00001
|
NM_000287.4(PEX6):c.1287del (p.Trp430fs)
|
rs1258472160
|
0.00001
|
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp)
|
rs61753225
|
0.00001
|
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)
|
rs1553925453
|
0.00001
|
NM_000297.4(PKD2):c.965G>A (p.Arg322Gln)
|
rs145877597
|
0.00001
|
NM_000298.6(PKLR):c.1091G>A (p.Gly364Asp)
|
rs981579065
|
0.00001
|
NM_000298.6(PKLR):c.1594C>T (p.Arg532Trp)
|
rs201255024
|
0.00001
|
NM_000301.5(PLG):c.988A>G (p.Lys330Glu)
|
rs889957249
|
0.00001
|
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu)
|
rs80338700
|
0.00001
|
NM_000303.3(PMM2):c.97C>T (p.Gln33Ter)
|
rs149530060
|
0.00001
|
NM_000313.4(PROS1):c.586A>G (p.Lys196Glu)
|
rs121918474
|
0.00001
|
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)
|
rs121909224
|
0.00001
|
NM_000317.3(PTS):c.155A>G (p.Asn52Ser)
|
rs104894275
|
0.00001
|
NM_000330.4(RS1):c.305G>A (p.Arg102Gln)
|
rs61752068
|
0.00001
|
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp)
|
rs527236148
|
0.00001
|
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn)
|
rs137854618
|
0.00001
|
NM_000340.2(SLC2A2):c.157C>T (p.Arg53Ter)
|
rs771477447
|
0.00001
|
NM_000343.4(SLC5A1):c.799C>T (p.Arg267Ter)
|
rs779502629
|
0.00001
|
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg)
|
rs61748558
|
0.00001
|
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter)
|
rs61750571
|
0.00001
|
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)
|
rs61751383
|
0.00001
|
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp)
|
rs104894724
|
0.00001
|
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)
|
rs397516354
|
0.00001
|
NM_000388.4(CASR):c.1589G>A (p.Trp530Ter)
|
rs1260540509
|
0.00001
|
NM_000404.4(GLB1):c.902C>T (p.Ala301Val)
|
rs750531880
|
0.00001
|
NM_000419.5(ITGA2B):c.2333A>C (p.Gln778Pro)
|
rs74475415
|
0.00001
|
NM_000424.4(KRT5):c.508G>A (p.Glu170Lys)
|
rs59115483
|
0.00001
|
NM_000431.4(MVK):c.1162C>T (p.Arg388Ter)
|
rs104895360
|
0.00001
|
NM_000443.4(ABCB4):c.139C>T (p.Arg47Ter)
|
rs376926391
|
0.00001
|
NM_000443.4(ABCB4):c.3486+1G>A
|
rs764513998
|
0.00001
|
NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter)
|
rs377160065
|
0.00001
|
NM_000448.3(RAG1):c.2867T>C (p.Ile956Thr)
|
rs182385524
|
0.00001
|
NM_000454.5(SOD1):c.341T>C (p.Ile114Thr)
|
rs121912441
|
0.00001
|
NM_000478.6(ALPL):c.1130C>T (p.Ala377Val)
|
rs756418235
|
0.00001
|
NM_000478.6(ALPL):c.1133A>T (p.Asp378Val)
|
rs121918008
|
0.00001
|
NM_000478.6(ALPL):c.215T>C (p.Ile72Thr)
|
rs781264043
|
0.00001
|
NM_000478.6(ALPL):c.299C>T (p.Thr100Met)
|
rs1201942473
|
0.00001
|
NM_000478.6(ALPL):c.648+1G>A
|
rs749544042
|
0.00001
|
NM_000478.6(ALPL):c.814C>T (p.Arg272Cys)
|
rs121918020
|
0.00001
|
NM_000487.6(ARSA):c.827C>T (p.Thr276Met)
|
rs74315472
|
0.00001
|
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)
|
rs121909005
|
0.00001
|
NM_000492.4(CFTR):c.1766+5G>T
|
rs121908796
|
0.00001
|
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter)
|
rs121908749
|
0.00001
|
NM_000492.4(CFTR):c.2290C>T (p.Arg764Ter)
|
rs121908810
|
0.00001
|
NM_000492.4(CFTR):c.2T>C (p.Met1Thr)
|
rs397508476
|
0.00001
|
NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu)
|
rs267606723
|
0.00001
|
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser)
|
rs121908803
|
0.00001
|
NM_000497.4(CYP11B1):c.1269T>G (p.Tyr423Ter)
|
rs267606755
|
0.00001
|
NM_000500.9(CYP21A2):c.1063C>T (p.Arg355Cys)
|
rs772900496
|
0.00001
|
NM_000500.9(CYP21A2):c.1280G>A (p.Arg427His)
|
rs151344504
|
0.00001
|
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg)
|
rs780803192
|
0.00001
|
NM_000508.3(FGA):c.103C>T (p.Arg35Cys)
|
rs121909606
|
0.00001
|
NM_000527.5(LDLR):c.1730G>C (p.Trp577Ser)
|
rs138947766
|
0.00001
|
NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter)
|
rs1057516127
|
0.00001
|
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn)
|
rs200727689
|
0.00001
|
NM_000530.8(MPZ):c.293G>A (p.Arg98His)
|
rs121913589
|
0.00001
|
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)
|
rs63751466
|
0.00001
|
NM_000540.3(RYR1):c.14209C>T (p.Arg4737Trp)
|
rs193922867
|
0.00001
|
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)
|
rs118192168
|
0.00001
|
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr)
|
rs118192158
|
0.00001
|
NM_000540.3(RYR1):c.529C>T (p.Arg177Cys)
|
rs193922757
|
0.00001
|
NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys)
|
rs118192175
|
0.00001
|
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His)
|
rs112563513
|
0.00001
|
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His)
|
rs118192122
|
0.00001
|
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)
|
rs28933397
|
0.00001
|
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His)
|
rs121918594
|
0.00001
|
NM_000546.6(TP53):c.375G>A (p.Thr125=)
|
rs55863639
|
0.00001
|
NM_000546.6(TP53):c.524G>A (p.Arg175His)
|
rs28934578
|
0.00001
|
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)
|
rs121912666
|
0.00001
|
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)
|
rs28934575
|
0.00001
|
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp)
|
rs45438205
|
0.00001
|
NM_000550.3(TYRP1):c.418G>T (p.Glu140Ter)
|
rs371209698
|
0.00001
|
NM_000551.4(VHL):c.292T>C (p.Tyr98His)
|
rs5030809
|
0.00001
|
NM_000551.4(VHL):c.499C>T (p.Arg167Trp)
|
rs5030820
|
0.00001
|
NM_000552.5(VWF):c.5335C>T (p.Arg1779Ter)
|
rs61750606
|
0.00001
|
NM_000552.5(VWF):c.5557C>T (p.Arg1853Ter)
|
rs61750612
|
0.00001
|
NM_000553.6(WRN):c.673C>T (p.Arg225Ter)
|
rs370324188
|
0.00001
|
NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val)
|
rs369448982
|
0.00001
|
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)
|
rs72551312
|
0.00001
|
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro)
|
rs201346271
|
0.00001
|
NM_001009944.3(PKD1):c.8017-2_8017-1del
|
rs1567180636
|
0.00001
|
NM_001009944.3(PKD1):c.9412G>A (p.Val3138Met)
|
rs1358566538
|
0.00001
|
NM_001023570.4(IQCB1):c.1558C>T (p.Gln520Ter)
|
rs779858591
|
0.00001
|
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)
|
rs797045139
|
0.00001
|
NM_001089.3(ABCA3):c.3863-98C>T
|
rs189077405
|
0.00001
|
NM_001114753.3(ENG):c.524-2A>G
|
rs1060501414
|
0.00001
|
NM_001126108.2(SLC12A3):c.506-1G>A
|
rs201555148
|
0.00001
|
NM_001134831.2(AHI1):c.2687A>G (p.His896Arg)
|
rs863225135
|
0.00001
|
NM_001139.3(ALOX12B):c.1463G>A (p.Arg488His)
|
rs763468558
|
0.00001
|
NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter)
|
rs527236076
|
0.00001
|
NM_001164508.2(NEB):c.10899G>A (p.Trp3633Ter)
|
rs780343350
|
0.00001
|
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)
|
rs201553266
|
0.00001
|
NM_001164508.2(NEB):c.6937C>T (p.Arg2313Ter)
|
rs756363951
|
0.00001
|
NM_001164508.2(NEB):c.78+1G>A
|
rs778593702
|
0.00001
|
NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His)
|
rs398123588
|
0.00001
|
NM_001182.5(ALDH7A1):c.1566-1G>T
|
rs140845195
|
0.00001
|
NM_001242896.3(DEPDC5):c.2527C>T (p.Arg843Ter)
|
rs541024038
|
0.00001
|
NM_001244008.2(KIF1A):c.2840del (p.Leu947fs)
|
rs587778791
|
0.00001
|
NM_001252024.2(TRPM1):c.2633G>A (p.Trp878Ter)
|
rs765645888
|
0.00001
|
NM_001256789.3(CACNA1F):c.2543+1G>A
|
rs886044841
|
0.00001
|
NM_001257180.2(SLC20A2):c.1794+1G>C
|
rs1052304545
|
0.00001
|
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter)
|
rs1064793560
|
0.00001
|
NM_001277115.2(DNAH11):c.3544C>T (p.Arg1182Ter)
|
rs374107286
|
0.00001
|
NM_001354712.2(THRB):c.1286G>A (p.Arg429Gln)
|
rs1553609210
|
0.00001
|
NM_001354712.2(THRB):c.1312C>T (p.Arg438Cys)
|
rs367757240
|
0.00001
|
NM_001354712.2(THRB):c.727C>T (p.Arg243Trp)
|
rs121918707
|
0.00001
|
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp)
|
rs80338860
|
0.00001
|
NM_001360.3(DHCR7):c.841G>A (p.Val281Met)
|
rs398123607
|
0.00001
|
NM_001365276.2(TNXB):c.8995del (p.Arg2999fs)
|
rs750030373
|
0.00001
|
NM_001371986.1(UNC80):c.1078C>T (p.Arg360Ter)
|
rs200659479
|
0.00001
|
NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter)
|
rs118204053
|
0.00001
|
NM_001384474.1(LOXHD1):c.2008C>T (p.Arg670Ter)
|
rs121918370
|
0.00001
|
NM_001384732.1(CPLANE1):c.8425_8426insG (p.Thr2809fs)
|
rs1554064102
|
0.00001
|
NM_001386140.1(MTTP):c.1783C>T (p.Arg595Ter)
|
rs199422219
|
0.00001
|
NM_001609.4(ACADSB):c.303+3A>G
|
rs1345480688
|
0.00001
|
NM_001754.5(RUNX1):c.611G>A (p.Arg204Gln)
|
rs1569061762
|
0.00001
|
NM_001918.5(DBT):c.434-15_434-4del
|
rs727503895
|
0.00001
|
NM_001987.5(ETV6):c.1106G>A (p.Arg369Gln)
|
rs724159946
|
0.00001
|
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter)
|
rs730881857
|
0.00001
|
NM_002485.5(NBN):c.842T>G (p.Leu281Ter)
|
rs786205135
|
0.00001
|
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu)
|
rs267606920
|
0.00001
|
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)
|
rs121913237
|
0.00001
|
NM_002693.3(POLG):c.3483-4_3497del
|
rs756325504
|
0.00001
|
NM_002769.5(PRSS1):c.365G>A (p.Arg122His)
|
rs111033565
|
0.00001
|
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp)
|
rs397507541
|
0.00001
|
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val)
|
rs397507504
|
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_002890.3(RASA1):c.2365C>T (p.Arg789Ter)
|
rs1463885690
|
0.00001
|
NM_003119.4(SPG7):c.1A>G (p.Met1Val)
|
rs794726906
|
0.00001
|
NM_003119.4(SPG7):c.988-1G>A
|
rs748309520
|
0.00001
|
NM_003681.5(PDXK):c.682G>A (p.Ala228Thr)
|
rs757480516
|
0.00001
|
NM_003742.4(ABCB11):c.2380C>T (p.Gln794Ter)
|
rs1060499579
|
0.00001
|
NM_003850.3(SUCLA2):c.1219C>T (p.Arg407Trp)
|
rs1233249991
|
0.00001
|
NM_003900.5(SQSTM1):c.1210A>G (p.Met404Val)
|
rs771966860
|
0.00001
|
NM_004004.6(GJB2):c.31_68del (p.Gly11fs)
|
rs397516873
|
0.00001
|
NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter)
|
rs778207102
|
0.00001
|
NM_004183.4(BEST1):c.860G>A (p.Trp287Ter)
|
rs753334817
|
0.00001
|
NM_004260.4(RECQL4):c.3061C>T (p.Arg1021Trp)
|
rs137853232
|
0.00001
|
NM_004425.4(ECM1):c.507del (p.Arg171fs)
|
rs869025565
|
0.00001
|
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys)
|
rs386833865
|
0.00001
|
NM_004722.4(AP4M1):c.1137+1G>T
|
rs770705832
|
0.00001
|
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)
|
rs112445441
|
0.00001
|
NM_005208.5(CRYBA1):c.215+1G>A
|
rs1264025914
|
0.00001
|
NM_005247.4(FGF3):c.283C>T (p.Arg95Trp)
|
rs281860303
|
0.00001
|
NM_005267.5(GJA8):c.134G>C (p.Trp45Ser)
|
rs864309688
|
0.00001
|
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)
|
rs397518413
|
0.00001
|
NM_005502.4(ABCA1):c.4429T>C (p.Cys1477Arg)
|
rs137854494
|
0.00001
|
NM_005557.4(KRT16):c.379C>T (p.Arg127Cys)
|
rs59856285
|
0.00001
|
NM_005732.4(RAD50):c.1958C>A (p.Ser653Ter)
|
rs587781904
|
0.00001
|
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys)
|
rs370479598
|
0.00001
|
NM_005912.3(MC4R):c.493C>T (p.Arg165Trp)
|
rs13447332
|
0.00001
|
NM_006017.3(PROM1):c.1984-1G>T
|
rs373680665
|
0.00001
|
NM_006031.6(PCNT):c.6162_6163del (p.Lys2054fs)
|
rs778391726
|
0.00001
|
NM_006204.4(PDE6C):c.939+2T>G
|
rs1328017393
|
0.00001
|
NM_006282.5(STK4):c.349C>T (p.Arg117Ter)
|
rs387907316
|
0.00001
|
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp)
|
rs267607061
|
0.00001
|
NM_006567.5(FARS2):c.646C>T (p.Gln216Ter)
|
rs1057523346
|
0.00001
|
NM_006642.5(SDCCAG8):c.481C>T (p.Gln161Ter)
|
rs797045947
|
0.00001
|
NM_006767.4(LZTR1):c.1587C>A (p.Tyr529Ter)
|
rs371015800
|
0.00001
|
NM_006767.4(LZTR1):c.509G>A (p.Arg170Gln)
|
rs781431741
|
0.00001
|
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys)
|
rs797045165
|
0.00001
|
NM_006790.3(MYOT):c.179C>T (p.Ser60Phe)
|
rs121908458
|
0.00001
|
NM_006949.4(STXBP2):c.1430C>T (p.Pro477Leu)
|
rs121918540
|
0.00001
|
NM_007126.5(VCP):c.476G>A (p.Arg159His)
|
rs121909335
|
0.00001
|
NM_007214.5(SEC63):c.2006_2007del (p.His669fs)
|
rs1403483213
|
0.00001
|
NM_007217.4(PDCD10):c.283C>T (p.Arg95Ter)
|
rs1357917630
|
0.00001
|
NM_007217.4(PDCD10):c.474+5G>A
|
rs1553759139
|
0.00001
|
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)
|
rs80356898
|
0.00001
|
NM_007294.4(BRCA1):c.2475del (p.Asp825fs)
|
rs80357970
|
0.00001
|
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter)
|
rs62625308
|
0.00001
|
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)
|
rs80357433
|
0.00001
|
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)
|
rs41293465
|
0.00001
|
NM_007375.4(TARDBP):c.1168A>G (p.Asn390Asp)
|
rs80356741
|
0.00001
|
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp)
|
rs180177314
|
0.00001
|
NM_014425.5(INVS):c.1186C>T (p.Arg396Ter)
|
rs773049314
|
0.00001
|
NM_014714.4(IFT140):c.1501C>T (p.Arg501Ter)
|
rs1424099914
|
0.00001
|
NM_014714.4(IFT140):c.1959G>A (p.Trp653Ter)
|
rs770731272
|
0.00001
|
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter)
|
rs121908288
|
0.00001
|
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln)
|
rs863224923
|
0.00001
|
NM_015102.5(NPHP4):c.2011C>T (p.Gln671Ter)
|
rs1025515771
|
0.00001
|
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs)
|
rs551541795
|
0.00001
|
NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn)
|
rs267607042
|
0.00001
|
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)
|
rs267607038
|
0.00001
|
NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter)
|
rs750338419
|
0.00001
|
NM_016180.5(SLC45A2):c.533_534dup (p.Gly179fs)
|
rs757344228
|
0.00001
|
NM_016222.4(DDX41):c.121C>T (p.Gln41Ter)
|
rs746278774
|
0.00001
|
NM_016239.4(MYO15A):c.3505C>T (p.Arg1169Ter)
|
rs781546107
|
0.00001
|
NM_016277.5(RAB23):c.408dup (p.Glu137Ter)
|
rs1438138090
|
0.00001
|
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter)
|
rs765443042
|
0.00001
|
NM_017654.4(SAMD9):c.2944C>T (p.Arg982Cys)
|
rs1247438528
|
0.00001
|
NM_017739.4(POMGNT1):c.1110+1G>A
|
rs1657940058
|
0.00001
|
NM_017890.5(VPS13B):c.4246C>T (p.Arg1416Ter)
|
rs145741622
|
0.00001
|
NM_017950.4(CCDC40):c.1312A>T (p.Lys438Ter)
|
rs371595543
|
0.00001
|
NM_018249.6(CDK5RAP2):c.4546G>T (p.Glu1516Ter)
|
rs374351172
|
0.00001
|
NM_018965.4(TREM2):c.377T>G (p.Val126Gly)
|
rs121908402
|
0.00001
|
NM_019892.6(INPP5E):c.1629C>G (p.Tyr543Ter)
|
rs753398503
|
0.00001
|
NM_020166.5(MCCC1):c.1681+2T>C
|
rs1333994006
|
0.00001
|
NM_020661.4(AICDA):c.334C>T (p.Arg112Cys)
|
rs1057520542
|
0.00001
|
NM_020964.3(EPG5):c.7333C>T (p.Arg2445Ter)
|
rs780889226
|
0.00001
|
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr)
|
rs77939446
|
0.00001
|
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp)
|
rs267607143
|
0.00001
|
NM_021871.4(FGA):c.104G>A (p.Arg35His)
|
rs121909607
|
0.00001
|
NM_022124.6(CDH23):c.5712G>A (p.Thr1904=)
|
rs397517342
|
0.00001
|
NM_022437.3(ABCG8):c.1608G>A (p.Trp536Ter)
|
rs544500542
|
0.00001
|
NM_024426.6(WT1):c.1120C>T (p.Arg374Ter)
|
rs1423753702
|
0.00001
|
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs)
|
rs775769424
|
0.00001
|
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter)
|
rs786204444
|
0.00001
|
NM_024649.5(BBS1):c.851del (p.Tyr284fs)
|
rs587777830
|
0.00001
|
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)
|
rs180177100
|
0.00001
|
NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter)
|
rs180177103
|
0.00001
|
NM_024675.4(PALB2):c.2336C>G (p.Ser779Ter)
|
rs764509489
|
0.00001
|
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)
|
rs180177112
|
0.00001
|
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser)
|
rs786204575
|
0.00001
|
NM_024996.7(GFM1):c.688G>A (p.Gly230Ser)
|
rs774456344
|
0.00001
|
NM_025099.6(CTC1):c.670C>T (p.Arg224Ter)
|
rs1169567839
|
0.00001
|
NM_025114.4(CEP290):c.2T>A (p.Met1Lys)
|
rs368984997
|
0.00001
|
NM_025114.4(CEP290):c.3922C>T (p.Gln1308Ter)
|
rs1417251616
|
0.00001
|
NM_025114.4(CEP290):c.4705-1G>T
|
rs777464278
|
0.00001
|
NM_025137.4(SPG11):c.7138G>T (p.Glu2380Ter)
|
rs369467143
|
0.00001
|
NM_025193.4(HSD3B7):c.45_46del (p.Gly17fs)
|
rs786200876
|
0.00001
|
NM_031443.4(CCM2):c.55C>T (p.Arg19Ter)
|
rs755800734
|
0.00001
|
NM_031885.5(BBS2):c.700C>T (p.Arg234Ter)
|
rs779690256
|
0.00001
|
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter)
|
rs587780226
|
0.00001
|
NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter)
|
rs747604569
|
0.00001
|
NM_032273.4(TMEM126A):c.163C>T (p.Arg55Ter)
|
rs121434508
|
0.00001
|
NM_032305.3(POLR3GL):c.-41-1G>A
|
rs782661984
|
0.00001
|
NM_032305.3(POLR3GL):c.358C>T (p.Arg120Ter)
|
rs1401599439
|
0.00001
|
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg)
|
rs104886111
|
0.00001
|
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser)
|
rs104886237
|
0.00001
|
NM_033453.4(ITPA):c.532C>T (p.Arg178Cys)
|
rs746930990
|
0.00001
|
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter)
|
rs78218009
|
0.00001
|
NM_052845.4(MMAB):c.523G>T (p.Gly175Ter)
|
rs758790126
|
0.00001
|
NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter)
|
rs876659874
|
0.00001
|
NM_133259.4(LRPPRC):c.1061C>T (p.Ala354Val)
|
rs119466000
|
0.00001
|
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter)
|
rs761704401
|
0.00001
|
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His)
|
rs745770404
|
0.00001
|
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter)
|
rs727504089
|
0.00001
|
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter)
|
rs1344820986
|
0.00001
|
NM_138694.4(PKHD1):c.2864T>G (p.Phe955Cys)
|
rs777158800
|
0.00001
|
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp)
|
rs748540413
|
0.00001
|
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg)
|
rs886061616
|
0.00001
|
NM_138694.4(PKHD1):c.8555-2A>C
|
rs1020621286
|
0.00001
|
NM_144672.4(OTOA):c.1880+1G>A
|
rs148690740
|
0.00001
|
NM_144997.7(FLCN):c.1522_1524del (p.Lys508del)
|
rs398124529
|
0.00001
|
NM_145261.4(DNAJC19):c.130-1G>C
|
rs137854888
|
0.00001
|
NM_145868.2(ANXA11):c.119A>G (p.Asp40Gly)
|
rs1247392012
|
0.00001
|
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr)
|
rs761707323
|
0.00001
|
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)
|
rs752202089
|
0.00001
|
NM_153676.4(USH1C):c.2326dup (p.Ile776fs)
|
rs758555088
|
0.00001
|
NM_153700.2(STRC):c.3217C>T (p.Arg1073Ter)
|
rs876657725
|
0.00001
|
NM_153704.6(TMEM67):c.1387C>T (p.Arg463Ter)
|
rs778155409
|
0.00001
|
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)
|
rs386134243
|
0.00001
|
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)
|
rs57920071
|
0.00001
|
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)
|
rs11575937
|
0.00001
|
NM_170707.4(LMNA):c.1745G>A (p.Arg582His)
|
rs57830985
|
0.00001
|
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp)
|
rs59026483
|
0.00001
|
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)
|
rs56816490
|
0.00001
|
NM_170784.3(MKKS):c.837del (p.Gly280fs)
|
rs776004321
|
0.00001
|
NM_173660.5(DOK7):c.331+1G>T
|
rs1349476281
|
0.00001
|
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter)
|
rs111033267
|
0.00001
|
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter)
|
rs751599203
|
0.00001
|
NM_194454.3(KRIT1):c.2026-12A>G
|
rs1041438637
|
0.00001
|
NM_198428.3(BBS9):c.1120C>T (p.Arg374Ter)
|
rs998200637
|
0.00001
|
NM_198428.3(BBS9):c.263+1G>A
|
rs137962929
|
0.00001
|
NM_203446.3(SYNJ1):c.656G>A (p.Arg219Gln)
|
rs398122403
|
0.00001
|
NM_206933.4(USH2A):c.12152_12153insTT (p.Glu4051fs)
|
rs1064793289
|
0.00001
|
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs)
|
rs768161313
|
0.00001
|
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter)
|
rs146733615
|
0.00001
|
NM_206933.4(USH2A):c.653T>A (p.Val218Glu)
|
rs397518026
|
0.00001
|
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter)
|
rs1485173724
|
0.00001
|
NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys)
|
rs1424639717
|
0.00001
|
NM_213599.3(ANO5):c.2470del (p.Gln824fs)
|
rs770694933
|
0.00001
|
NC_000018.9:g.77733765C>A
|
rs727502793
|
|
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs)
|
rs387906297
|
|
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter)
|
rs1225471006
|
|
NM_000017.4(ACADS):c.826del (p.Ala276fs)
|
|
|
NM_000018.4(ACADVL):c.1317dup (p.Met440fs)
|
rs1567567440
|
|
NM_000018.4(ACADVL):c.1429del (p.Cys477fs)
|
|
|
NM_000018.4(ACADVL):c.307_323dup (p.Val109fs)
|
rs1597520263
|
|
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del)
|
rs387906251
|
|
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del)
|
rs769280599
|
|
NM_000018.4(ACADVL):c.869dup (p.Ile291fs)
|
rs886044671
|
|
NM_000020.3(ACVRL1):c.1069C>T (p.Gln357Ter)
|
rs2139075900
|
|
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp)
|
rs28936401
|
|
NM_000020.3(ACVRL1):c.145dup (p.Ala49fs)
|
rs863223415
|
|
NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys)
|
rs750085854
|
|
NM_000021.4(PSEN1):c.488A>G (p.His163Arg)
|
rs63750590
|
|
NM_000022.4(ADA):c.703C>T (p.Arg235Trp)
|
rs778809577
|
|
NM_000030.3(AGXT):c.33del (p.Lys12fs)
|
rs180177201
|
|
NM_000030.3(AGXT):c.33dup (p.Lys12fs)
|
rs180177201
|
|
NM_000033.4(ABCD1):c.1159del (p.Ile387fs)
|
|
|
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His)
|
rs886044777
|
|
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)
|
rs128624221
|
|
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)
|
rs1569541088
|
|
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp)
|
rs1569541203
|
|
NM_000033.4(ABCD1):c.488G>C (p.Arg163Pro)
|
rs1057517954
|
|
NM_000033.4(ABCD1):c.668_669del (p.Ala223fs)
|
|
|
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)
|
rs193922098
|
|
NM_000033.4(ABCD1):c.893G>A (p.Gly298Asp)
|
|
|
NM_000033.4(ABCD1):c.978G>A (p.Trp326Ter)
|
|
|
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys)
|
rs78340951
|
|
NM_000037.4(ANK1):c.1519dup (p.Leu507fs)
|
rs397514029
|
|
NM_000037.4(ANK1):c.1775del (p.Gly592fs)
|
|
|
NM_000037.4(ANK1):c.1915del (p.Leu639fs)
|
|
|
NM_000037.4(ANK1):c.3157C>T (p.Arg1053Ter)
|
rs2150593517
|
|
NM_000037.4(ANK1):c.3476_3477insAG (p.Arg1160fs)
|
|
|
NM_000037.4(ANK1):c.4520C>A (p.Ser1507Ter)
|
|
|
NM_000037.4(ANK1):c.498C>G (p.Tyr166Ter)
|
|
|
NM_000037.4(ANK1):c.5044C>T (p.Arg1682Ter)
|
|
|
NM_000038.6(APC):c.1095del (p.Asp366fs)
|
|
|
NM_000038.6(APC):c.1312+1G>C
|
|
|
NM_000038.6(APC):c.1312+3A>G
|
rs863225311
|
|
NM_000038.6(APC):c.1408+1330del
|
|
|
NM_000038.6(APC):c.1743+1G>A
|
rs761458613
|
|
NM_000038.6(APC):c.233_236del (p.Asp78fs)
|
rs1064793020
|
|
NM_000038.6(APC):c.2413C>T (p.Arg805Ter)
|
rs587779783
|
|
NM_000038.6(APC):c.2547_2550del (p.Asp849fs)
|
rs398123118
|
|
NM_000038.6(APC):c.3810T>A (p.Cys1270Ter)
|
rs863225347
|
|
NM_000038.6(APC):c.3982C>T (p.Gln1328Ter)
|
rs398123121
|
|
NM_000038.6(APC):c.4506T>A (p.Cys1502Ter)
|
|
|
NM_000038.6(APC):c.5572C>T (p.Arg1858Ter)
|
rs1270783041
|
|
NM_000038.6(APC):c.5936_5939del (p.Asn1979fs)
|
rs587781330
|
|
NM_000038.6(APC):c.643C>T (p.Gln215Ter)
|
rs137854577
|
|
NM_000038.6(APC):c.790C>T (p.Gln264Ter)
|
|
|
NM_000043.6(FAS):c.528G>A (p.Trp176Ter)
|
rs866771343
|
|
NM_000044.6(AR):c.1531A>T (p.Arg511Ter)
|
|
|
NM_000044.6(AR):c.1715A>G (p.Tyr572Cys)
|
rs1925886715
|
|
NM_000044.6(AR):c.2599G>A (p.Val867Met)
|
rs137852564
|
|
NM_000044.6(AR):c.2743del (p.Ile915fs)
|
|
|
NM_000045.4(ARG1):c.129del (p.Glu44fs)
|
rs1169538148
|
|
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter)
|
rs367543005
|
|
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer)
|
rs587781598
|
|
NM_000051.4(ATM):c.138_141del (p.His46fs)
|
rs786203370
|
|
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)
|
rs587779817
|
|
NM_000051.4(ATM):c.2250+1G>A
|
rs1565395193
|
|
NM_000051.4(ATM):c.3085dup (p.Thr1029fs)
|
rs876658502
|
|
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs)
|
rs587776549
|
|
NM_000051.4(ATM):c.3754_3756delinsCA (p.Tyr1252fs)
|
rs786201886
|
|
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)
|
rs587779834
|
|
NM_000051.4(ATM):c.3850del (p.Thr1284fs)
|
rs876660865
|
|
NM_000051.4(ATM):c.4111del
|
rs797045114
|
|
NM_000051.4(ATM):c.4410T>G (p.Tyr1470Ter)
|
|
|
NM_000051.4(ATM):c.4612-3_4616del
|
rs773012957
|
|
NM_000051.4(ATM):c.4929del (p.Met1644fs)
|
rs2083175858
|
|
NM_000051.4(ATM):c.6177dup (p.Arg2060fs)
|
rs1591779373
|
|
NM_000051.4(ATM):c.6814delinsCA (p.Glu2272fs)
|
rs1565520117
|
|
NM_000051.4(ATM):c.6920_6923del (p.Leu2307fs)
|
rs1064793043
|
|
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)
|
rs121434220
|
|
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)
|
rs587776547
|
|
NM_000051.4(ATM):c.8635_8636del (p.Ile2878_Asn2879insTer)
|
|
|
NM_000051.4(ATM):c.8823_8824del (p.Gln2942fs)
|
rs1555143538
|
|
NM_000053.4(ATP7B):c.1543+1G>T
|
rs1360279134
|
|
NM_000053.4(ATP7B):c.2139C>G (p.Tyr713Ter)
|
|
|
NM_000053.4(ATP7B):c.2304dup (p.Met769fs)
|
rs137853287
|
|
NM_000053.4(ATP7B):c.2333G>A (p.Arg778Gln)
|
rs28942074
|
|
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs)
|
rs558037268
|
|
NM_000054.7(AVPR2):c.46_61del (p.Leu16fs)
|
|
|
NM_000054.7(AVPR2):c.809_810del (p.Val270fs)
|
rs2064966689
|
|
NM_000057.4(BLM):c.1544del (p.Asn515fs)
|
rs367543043
|
|
NM_000057.4(BLM):c.2923del (p.Gln975fs)
|
rs367543014
|
|
NM_000057.4(BLM):c.3261del (p.Phe1087fs)
|
rs1319786857
|
|
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)
|
rs80359351
|
|
NM_000059.4(BRCA2):c.1189_1190insTTAG (p.Gln397fs)
|
rs397515635
|
|
NM_000059.4(BRCA2):c.1794_1798del
|
rs276174813
|
|
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter)
|
rs80358494
|
|
NM_000059.4(BRCA2):c.2409T>G (p.Tyr803Ter)
|
rs80358504
|
|
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter)
|
rs80358557
|
|
NM_000059.4(BRCA2):c.3344del (p.Ser1115fs)
|
rs1135401900
|
|
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)
|
rs80359388
|
|
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)
|
rs80359405
|
|
NM_000059.4(BRCA2):c.4030_4035delinsC (p.Asn1344fs)
|
rs886040509
|
|
NM_000059.4(BRCA2):c.4222C>T (p.Gln1408Ter)
|
rs80358663
|
|
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)
|
rs80359439
|
|
NM_000059.4(BRCA2):c.4525C>T (p.Gln1509Ter)
|
rs80358683
|
|
NM_000059.4(BRCA2):c.4631del (p.Asn1544fs)
|
rs80359460
|
|
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs)
|
rs397507739
|
|
NM_000059.4(BRCA2):c.475+1G>T
|
rs81002797
|
|
NM_000059.4(BRCA2):c.505_506del (p.Lys169fs)
|
|
|
NM_000059.4(BRCA2):c.5195del (p.Leu1732fs)
|
rs587779363
|
|
NM_000059.4(BRCA2):c.5217_5223del (p.Thr1738_Tyr1739insTer)
|
rs80359496
|
|
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter)
|
rs80359499
|
|
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs)
|
rs80359507
|
|
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs)
|
rs80359520
|
|
NM_000059.4(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter)
|
rs276174859
|
|
NM_000059.4(BRCA2):c.6024dup (p.Gln2009fs)
|
rs80359554
|
|
NM_000059.4(BRCA2):c.6034dup (p.Ser2012fs)
|
rs397507823
|
|
NM_000059.4(BRCA2):c.6267_6269delinsC (p.Glu2089fs)
|
rs276174868
|
|
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs)
|
rs80359598
|
|
NM_000059.4(BRCA2):c.6580del (p.Ile2194fs)
|
|
|
NM_000059.4(BRCA2):c.658_659del (p.Val220fs)
|
rs80359604
|
|
NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs)
|
rs80359605
|
|
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs)
|
rs587781803
|
|
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs)
|
rs80359636
|
|
NM_000059.4(BRCA2):c.733A>T (p.Arg245Ter)
|
rs80358959
|
|
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys)
|
rs80359027
|
|
NM_000059.4(BRCA2):c.799G>T (p.Gly267Ter)
|
rs786202796
|
|
NM_000059.4(BRCA2):c.8904del (p.Val2969fs)
|
rs80359730
|
|
NM_000059.4(BRCA2):c.9041C>G (p.Ser3014Ter)
|
rs80359156
|
|
NM_000059.4(BRCA2):c.9076C>T (p.Gln3026Ter)
|
rs80359159
|
|
NM_000059.4(BRCA2):c.9097del (p.Thr3033fs)
|
rs397507419
|
|
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)
|
rs80359752
|
|
NM_000059.4(BRCA2):c.998dup (p.His334fs)
|
rs397507437
|
|
NM_000062.3(SERPING1):c.1480C>T (p.Arg494Ter)
|
rs922149386
|
|
NM_000062.3(SERPING1):c.778G>T (p.Glu260Ter)
|
|
|
NM_000065.5(C6):c.1879_1881delinsAT (p.Asp627fs)
|
|
|
NM_000065.5(C6):c.2049C>G (p.Tyr683Ter)
|
rs867425110
|
|
NM_000070.3(CAPN3):c.1699G>T (p.Gly567Trp)
|
rs727503839
|
|
NM_000070.3(CAPN3):c.2279dup (p.Asn760fs)
|
rs775130589
|
|
NM_000070.3(CAPN3):c.946-2A>G
|
rs1595826673
|
|
NM_000077.5(CDKN2A):c.225_243del (p.Ala76fs)
|
rs730881674
|
|
NM_000077.5(CDKN2A):c.35C>A (p.Ser12Ter)
|
rs141798398
|
|
NM_000080.4(CHRNE):c.1090dup (p.Arg364fs)
|
rs1156634884
|
|
NM_000080.4(CHRNE):c.1341G>A (p.Trp447Ter)
|
rs918839874
|
|
NM_000081.4(LYST):c.10459C>T (p.Gln3487Ter)
|
|
|
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu)
|
rs80356700
|
|
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)
|
rs80356690
|
|
NM_000088.4(COL1A1):c.1094G>T (p.Gly365Val)
|
rs66494876
|
|
NM_000088.4(COL1A1):c.1354-1G>T
|
|
|
NM_000088.4(COL1A1):c.1678G>T (p.Gly560Cys)
|
rs67507747
|
|
NM_000088.4(COL1A1):c.1812del (p.Gly605fs)
|
rs193922143
|
|
NM_000088.4(COL1A1):c.1821+1G>A
|
rs66555264
|
|
NM_000088.4(COL1A1):c.2028+2T>A
|
|
|
NM_000088.4(COL1A1):c.2084del (p.Gly695fs)
|
rs72651641
|
|
NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser)
|
rs67879854
|
|
NM_000088.4(COL1A1):c.2434G>A (p.Gly812Ser)
|
rs886042260
|
|
NM_000088.4(COL1A1):c.2444G>C (p.Gly815Ala)
|
rs66929517
|
|
NM_000088.4(COL1A1):c.2523del (p.Gly842fs)
|
rs72653133
|
|
NM_000088.4(COL1A1):c.2650G>A (p.Gly884Ser)
|
rs1567755602
|
|
NM_000088.4(COL1A1):c.2990del (p.Pro997fs)
|
rs1598288648
|
|
NM_000088.4(COL1A1):c.3064G>A (p.Gly1022Ser)
|
rs66523073
|
|
NM_000088.4(COL1A1):c.3141TCCTGGTGC[1] (p.1047APG[2])
|
rs74315111
|
|
NM_000088.4(COL1A1):c.3141TCCTGGTGC[3] (p.Gly1055_Pro1056insAlaProGly)
|
rs74315111
|
|
NM_000088.4(COL1A1):c.3162del (p.Gly1055fs)
|
rs72654794
|
|
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser)
|
rs67394386
|
|
NM_000088.4(COL1A1):c.3235G>A (p.Gly1079Ser)
|
rs72654802
|
|
NM_000088.4(COL1A1):c.3897C>G (p.Cys1299Trp)
|
rs34940368
|
|
NM_000088.4(COL1A1):c.4321G>T (p.Asp1441Tyr)
|
rs72656351
|
|
NM_000088.4(COL1A1):c.432dup (p.Gly145fs)
|
rs72667016
|
|
NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg)
|
rs72645321
|
|
NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg)
|
rs72645357
|
|
NM_000089.4(COL1A2):c.3070G>A (p.Gly1024Arg)
|
rs2115954840
|
|
NM_000089.4(COL1A2):c.632G>A (p.Gly211Asp)
|
rs72656378
|
|
NM_000090.4(COL3A1):c.1347+1G>A
|
rs397509370
|
|
NM_000090.4(COL3A1):c.1744G>A (p.Gly582Ser)
|
rs121912923
|
|
NM_000090.4(COL3A1):c.1869+1G>C
|
rs587779600
|
|
NM_000090.4(COL3A1):c.836G>A (p.Gly279Asp)
|
rs587779593
|
|
NM_000091.5(COL4A3):c.1892G>T (p.Gly631Val)
|
rs1315862965
|
|
NM_000091.5(COL4A3):c.40_63del (p.Leu14_Leu21del)
|
rs876657397
|
|
NM_000092.5(COL4A4):c.1143_1144del (p.Asp383fs)
|
rs2150739953
|
|
NM_000092.5(COL4A4):c.2219dup (p.Val741fs)
|
rs141127013
|
|
NM_000092.5(COL4A4):c.2638del (p.Ala880fs)
|
rs778043831
|
|
NM_000093.5(COL5A1):c.1041C>A (p.Tyr347Ter)
|
|
|
NM_000094.4(COL7A1):c.2471dup (p.Asn825fs)
|
rs746056280
|
|
NM_000094.4(COL7A1):c.4182_4188dup (p.Ala1397fs)
|
|
|
NM_000094.4(COL7A1):c.5605G>C (p.Gly1869Arg)
|
rs1057517724
|
|
NM_000094.4(COL7A1):c.6007G>A (p.Gly2003Arg)
|
rs121912832
|
|
NM_000094.4(COL7A1):c.6017G>A (p.Gly2006Asp)
|
rs121912842
|
|
NM_000094.4(COL7A1):c.6100G>A (p.Gly2034Arg)
|
rs121912844
|
|
NM_000094.4(COL7A1):c.6100G>T (p.Gly2034Trp)
|
|
|
NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg)
|
rs121912836
|
|
NM_000094.4(COL7A1):c.6235G>A (p.Gly2079Arg)
|
rs2107671960
|
|
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs)
|
rs768128088
|
|
NM_000094.4(COL7A1):c.6697G>A (p.Gly2233Ser)
|
rs2107661505
|
|
NM_000094.4(COL7A1):c.7096G>T (p.Gly2366Cys)
|
|
|
NM_000094.4(COL7A1):c.7621C>T (p.Arg2541Ter)
|
rs2107641787
|
|
NM_000094.4(COL7A1):c.7787del (p.Gly2596fs)
|
rs759990189
|
|
NM_000094.4(COL7A1):c.8165G>T (p.Gly2722Val)
|
rs759949767
|
|
NM_000094.4(COL7A1):c.8246G>A (p.Gly2749Glu)
|
rs2107631988
|
|
NM_000096.4(CP):c.1991_1992del (p.Thr664fs)
|
|
|
NM_000096.4(CP):c.2066del (p.Pro689fs)
|
rs386134147
|
|
NM_000097.7(CPOX):c.127_131dup (p.Gly45fs)
|
rs786205053
|
|
NM_000098.3(CPT2):c.340+1G>C
|
|
|
NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe)
|
rs515726173
|
|
NM_000101.4(CYBA):c.268C>G (p.Arg90Gly)
|
rs179363892
|
|
NM_000102.4(CYP17A1):c.985_987delinsAA (p.Tyr329fs)
|
rs1844105842
|
|
NM_000104.4(CYP1B1):c.1200_1209dup (p.Thr404fs)
|
rs587778873
|
|
NM_000104.4(CYP1B1):c.535del (p.Ala179fs)
|
rs771076928
|
|
NM_000110.4(DPYD):c.321+1G>A
|
|
|
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del)
|
rs80358233
|
|
NM_000116.5(TAFAZZIN):c.236G>A (p.Trp79Ter)
|
|
|
NM_000117.3(EMD):c.251_255del (p.Leu84fs)
|
rs782452523
|
|
NM_000123.4(ERCC5):c.264+1del
|
|
|
NM_000124.4(ERCC6):c.2709+1G>T
|
rs1850818899
|
|
NM_000126.4(ETFA):c.495_496del (p.Ser167fs)
|
rs1298299792
|
|
NM_000127.3(EXT1):c.1848C>G (p.Tyr616Ter)
|
rs1563873580
|
|
NM_000127.3(EXT1):c.1884-2A>G
|
|
|
NM_000127.3(EXT1):c.1952del (p.Asn651fs)
|
|
|
NM_000127.3(EXT1):c.202dup (p.Trp68fs)
|
|
|
NM_000127.3(EXT1):c.335del (p.Asn112fs)
|
|
|
NM_000127.3(EXT1):c.713del (p.Ser238fs)
|
rs2130042099
|
|
NM_000128.4(F11):c.1075del (p.Ile359fs)
|
rs786204429
|
|
NM_000128.4(F11):c.1313C>A (p.Ser438Ter)
|
rs786204724
|
|
NM_000129.4(F13A1):c.1305+1G>A
|
|
|
NM_000129.4(F13A1):c.521del (p.Ser174fs)
|
|
|
NM_000132.4(F8):c.5399G>A (p.Arg1800His)
|
rs137852442
|
|
NM_000132.4(F8):c.541G>A (p.Val181Met)
|
rs137852394
|
|
NM_000132.4(F8):c.923C>T (p.Ser308Leu)
|
rs137852404
|
|
NM_000133.4(F9):c.1293G>A (p.Trp431Ter)
|
|
|
NM_000133.4(F9):c.277+1G>T
|
|
|
NM_000133.4(F9):c.676C>T (p.Arg226Trp)
|
rs137852240
|
|
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp)
|
rs753063086
|
|
NM_000135.4(FANCA):c.3348+1G>A
|
rs751266148
|
|
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs)
|
rs747851434
|
|
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)
|
rs397507553
|
|
NM_000135.4(FANCA):c.3931_3932del (p.Glu1310_Ser1311insTer)
|
rs1403231932
|
|
NM_000135.4(FANCA):c.4010+1_4010+18del
|
rs752457319
|
|
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs)
|
rs587779904
|
|
NM_000138.5(FBN1):c.1098G>C (p.Trp366Cys)
|
rs1555400595
|
|
NM_000138.5(FBN1):c.2768dup (p.Asn923fs)
|
rs1597567246
|
|
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys)
|
rs1555398835
|
|
NM_000138.5(FBN1):c.4210+1G>A
|
rs730880106
|
|
NM_000138.5(FBN1):c.4405del (p.Arg1469fs)
|
rs794728308
|
|
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)
|
rs111401431
|
|
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys)
|
rs794728334
|
|
NM_000138.5(FBN1):c.6936del (p.Ser2313fs)
|
|
|
NM_000138.5(FBN1):c.7004_7020del (p.Arg2335fs)
|
|
|
NM_000138.5(FBN1):c.7531T>C (p.Cys2511Arg)
|
rs794728272
|
|
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)
|
rs363811
|
|
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys)
|
rs147195031
|
|
NM_000138.5(FBN1):c.7C>T (p.Arg3Ter)
|
rs886038797
|
|
NM_000140.5(FECH):c.901_902del (p.Trp301fs)
|
rs1430926156
|
|
NM_000141.5(FGFR2):c.1070T>C (p.Leu357Ser)
|
rs2134254345
|
|
NM_000141.5(FGFR2):c.1084+1G>A
|
|
|
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys)
|
rs121913478
|
|
NM_000141.5(FGFR2):c.1141T>G (p.Tyr381Asp)
|
rs387906678
|
|
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala)
|
rs121918506
|
|
NM_000141.5(FGFR2):c.1977G>C (p.Lys659Asn)
|
rs1589722765
|
|
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)
|
rs79184941
|
|
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)
|
rs77543610
|
|
NM_000141.5(FGFR2):c.870G>C (p.Trp290Cys)
|
rs121918499
|
|
NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg)
|
rs28931614
|
|
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys)
|
rs28933068
|
|
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu)
|
rs78311289
|
|
NM_000142.5(FGFR3):c.2421A>T (p.Ter807Cys)
|
rs121913103
|
|
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)
|
rs121913482
|
|
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys)
|
rs121913483
|
|
NM_000146.4(FTL):c.-168G>T
|
rs398124635
|
|
NM_000151.4(G6PC1):c.79del (p.Gln27fs)
|
rs80356479
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
NM_000155.4(GALT):c.289_291del (p.Asn97del)
|
rs398123179
|
|
NM_000155.4(GALT):c.41delinsTT (p.Ala14fs)
|
rs111033634
|
|
NM_000156.6(GAMT):c.134G>A (p.Trp45Ter)
|
|
|
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)
|
rs421016
|
|
NM_000159.4(GCDH):c.1173dup (p.Asn392fs)
|
rs754002357
|
|
NM_000159.4(GCDH):c.1239C>A (p.Tyr413Ter)
|
rs776082304
|
|
NM_000159.4(GCDH):c.149G>A (p.Trp50Ter)
|
rs1970564107
|
|
NM_000161.3(GCH1):c.614T>A (p.Val205Glu)
|
rs1418922853
|
|
NM_000162.5(GCK):c.1106G>C (p.Arg369Pro)
|
|
|
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu)
|
rs193922272
|
|
NM_000162.5(GCK):c.1253+1G>A
|
|
|
NM_000162.5(GCK):c.128G>A (p.Arg43His)
|
rs764232985
|
|
NM_000162.5(GCK):c.1322C>G (p.Ser441Trp)
|
rs1286804191
|
|
NM_000162.5(GCK):c.292C>T (p.Gln98Ter)
|
|
|
NM_000162.5(GCK):c.364-1G>C
|
|
|
NM_000165.5(GJA1):c.689_690del (p.Tyr230fs)
|
rs1582558514
|
|
NM_000166.6(GJB1):c.101T>C (p.Met34Thr)
|
rs1060500998
|
|
NM_000168.6(GLI3):c.1927C>T (p.Arg643Ter)
|
rs121917709
|
|
NM_000169.3(GLA):c.1024C>T (p.Arg342Ter)
|
rs104894843
|
|
NM_000169.3(GLA):c.1066C>T (p.Arg356Trp)
|
rs104894827
|
|
NM_000169.3(GLA):c.1095T>G (p.Tyr365Ter)
|
|
|
NM_000169.3(GLA):c.124A>G (p.Met42Val)
|
rs797044613
|
|
NM_000169.3(GLA):c.272T>C (p.Ile91Thr)
|
rs869312141
|
|
NM_000169.3(GLA):c.816C>A (p.Asn272Lys)
|
|
|
NM_000170.3(GLDC):c.1054del (p.Thr352fs)
|
rs386833518
|
|
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)
|
rs121964976
|
|
NM_000170.3(GLDC):c.2414G>A (p.Trp805Ter)
|
rs386833557
|
|
NM_000170.3(GLDC):c.482A>G (p.Tyr161Cys)
|
rs386833580
|
|
NM_000173.7(GP1BA):c.1601_1602del (p.Tyr534fs)
|
rs763978422
|
|
NM_000179.3(MSH6):c.1519dup (p.Arg507fs)
|
rs876658881
|
|
NM_000179.3(MSH6):c.1634_1635del (p.Lys545fs)
|
rs267608064
|
|
NM_000179.3(MSH6):c.1691C>A (p.Ser564Ter)
|
rs864622153
|
|
NM_000179.3(MSH6):c.1815_1816del (p.Lys606fs)
|
rs1060502886
|
|
NM_000179.3(MSH6):c.1842del (p.Cys615fs)
|
rs730881825
|
|
NM_000179.3(MSH6):c.2230dup (p.Glu744fs)
|
rs786201050
|
|
NM_000179.3(MSH6):c.2832_2833del (p.Ile944fs)
|
rs730881827
|
|
NM_000179.3(MSH6):c.2964dup (p.Asn989fs)
|
rs587781659
|
|
NM_000179.3(MSH6):c.3076del (p.Asp1026fs)
|
|
|
NM_000179.3(MSH6):c.3088A>T (p.Lys1030Ter)
|
rs1114167707
|
|
NM_000179.3(MSH6):c.3476dup (p.Tyr1159Ter)
|
rs587782111
|
|
NM_000179.3(MSH6):c.3609_3612del (p.His1203fs)
|
rs587779274
|
|
NM_000179.3(MSH6):c.3699_3702del (p.Lys1233fs)
|
rs193922343
|
|
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter)
|
rs267608094
|
|
NM_000181.4(GUSB):c.581+1G>A
|
|
|
NM_000183.3(HADHB):c.739C>T (p.Arg247Cys)
|
|
|
NM_000187.4(HGD):c.1017_1019delinsTA (p.Met339fs)
|
rs1057517081
|
|
NM_000190.4(HMBS):c.445C>T (p.Arg149Ter)
|
rs118204120
|
|
NM_000190.4(HMBS):c.826-2A>T
|
rs1946317952
|
|
NM_000194.3(HPRT1):c.143G>A (p.Arg48His)
|
rs387906725
|
|
NM_000198.4(HSD3B2):c.931C>T (p.Gln311Ter)
|
rs781213951
|
|
NM_000203.5(IDUA):c.1759C>T (p.Gln587Ter)
|
|
|
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del)
|
rs398123260
|
|
NM_000204.5(CFI):c.1176_1177dup (p.Trp393fs)
|
rs758049059
|
|
NM_000207.2(INS):c.-152C>A
|
rs748749585
|
|
NM_000214.3(JAG1):c.1156G>A (p.Gly386Arg)
|
rs863223650
|
|
NM_000214.3(JAG1):c.1459_1460del (p.Asp487fs)
|
|
|
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs)
|
rs727504412
|
|
NM_000214.3(JAG1):c.2230C>T (p.Arg744Ter)
|
rs863223655
|
|
NM_000214.3(JAG1):c.2583dup (p.Pro862fs)
|
|
|
NM_000214.3(JAG1):c.2690_2694dup (p.Pro899fs)
|
|
|
NM_000214.3(JAG1):c.2728G>T (p.Glu910Ter)
|
|
|
NM_000214.3(JAG1):c.439+1G>A
|
rs863223648
|
|
NM_000214.3(JAG1):c.703C>T (p.Arg235Ter)
|
rs876660980
|
|
NM_000216.4(ANOS1):c.1A>G (p.Met1Val)
|
rs606231409
|
|
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs)
|
rs397508103
|
|
NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs)
|
rs1435990592
|
|
NM_000218.3(KCNQ1):c.364dup (p.Cys122fs)
|
rs397508109
|
|
NM_000228.3(LAMB3):c.31dup (p.Leu11fs)
|
rs777672897
|
|
NM_000233.4(LHCGR):c.1624A>C (p.Ile542Leu)
|
rs121912531
|
|
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser)
|
rs121912507
|
|
NM_000238.4(KCNH2):c.1898A>G (p.Asn633Ser)
|
rs199472961
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
NM_000249.4(MLH1):c.1772_1775del (p.Asp591fs)
|
rs63749868
|
|
NM_000249.4(MLH1):c.1855del (p.Ala619fs)
|
rs63749986
|
|
NM_000249.4(MLH1):c.1989+1G>T
|
rs267607879
|
|
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)
|
rs63750206
|
|
NM_000249.4(MLH1):c.503dup (p.Asn168fs)
|
rs63749959
|
|
NM_000251.3(MSH2):c.1009C>T (p.Gln337Ter)
|
rs63750778
|
|
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)
|
rs63749849
|
|
NM_000251.3(MSH2):c.2089T>C (p.Cys697Arg)
|
rs63750961
|
|
NM_000251.3(MSH2):c.2096C>G (p.Ser699Ter)
|
rs587779136
|
|
NM_000251.3(MSH2):c.2245G>T (p.Glu749Ter)
|
rs63751477
|
|
NM_000251.3(MSH2):c.388_389del (p.Gln130fs)
|
rs63750704
|
|
NM_000252.3(MTM1):c.490_493dup (p.Thr165fs)
|
|
|
NM_000254.3(MTR):c.2799_2803del (p.Ala935fs)
|
|
|
NM_000255.4(MMUT):c.970G>A (p.Ala324Thr)
|
rs780387525
|
|
NM_000256.3(MYBPC3):c.1090G>A (p.Ala364Thr)
|
rs794727046
|
|
NM_000256.3(MYBPC3):c.1458-1G>A
|
rs397515903
|
|
NM_000256.3(MYBPC3):c.162del (p.Lys54fs)
|
rs864622224
|
|
NM_000256.3(MYBPC3):c.226C>T (p.Gln76Ter)
|
|
|
NM_000256.3(MYBPC3):c.2376G>A (p.Trp792Ter)
|
rs863225112
|
|
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs)
|
rs397516080
|
|
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln)
|
rs121913624
|
|
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)
|
rs121913628
|
|
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln)
|
rs397516171
|
|
NM_000260.4(MYO7A):c.397dup (p.His133fs)
|
rs111033187
|
|
NM_000264.5(PTCH1):c.1603-2A>G
|
rs1064793921
|
|
NM_000264.5(PTCH1):c.2287del (p.Val763fs)
|
|
|
NM_000264.5(PTCH1):c.2438_2446dup (p.Pro813_Ile815dup)
|
rs1588568813
|
|
NM_000264.5(PTCH1):c.3152G>A (p.Trp1051Ter)
|
rs1060502301
|
|
NM_000264.5(PTCH1):c.745del (p.Leu248_Leu249insTer)
|
|
|
NM_000268.4(NF2):c.240+1G>A
|
rs587776562
|
|
NM_000268.4(NF2):c.431dup (p.Tyr144Ter)
|
rs2065831369
|
|
NM_000271.5(NPC1):c.1554-1009G>A
|
rs1055204017
|
|
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter)
|
rs786204512
|
|
NM_000271.5(NPC1):c.3618del (p.Lys1206fs)
|
|
|
NM_000273.3(GPR143):c.162_198del (p.Ala55fs)
|
|
|
NM_000273.3(GPR143):c.886-2A>T
|
rs2146684328
|
|
NM_000275.3(OCA2):c.172C>T (p.Gln58Ter)
|
|
|
NM_000275.3(OCA2):c.2014_2016delinsT (p.Ile672fs)
|
|
|
NM_000275.3(OCA2):c.2051_2052delinsG (p.Phe684fs)
|
rs1595660890
|
|
NM_000275.3(OCA2):c.2055del (p.Phe685fs)
|
rs772595552
|
|
NM_000275.3(OCA2):c.2177_2181del (p.Val726fs)
|
rs771620099
|
|
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)
|
rs767489236
|
|
NM_000275.3(OCA2):c.808-3C>G
|
|
|
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal)
|
rs797044784
|
|
NM_000276.4(OCRL):c.260del (p.Gln87fs)
|
|
|
NM_000277.3(PAH):c.529G>A (p.Val177Met)
|
rs199475602
|
|
NM_000277.3(PAH):c.529G>C (p.Val177Leu)
|
rs199475602
|
|
NM_000278.5(PAX2):c.219C>G (p.Tyr73Ter)
|
rs139724326
|
|
NM_000278.5(PAX2):c.418C>T (p.Arg140Trp)
|
rs1217241110
|
|
NM_000278.5(PAX2):c.722del (p.Leu241fs)
|
|
|
NM_000278.5(PAX2):c.76dup (p.Val26fs)
|
rs75462234
|
|
NM_000282.4(PCCA):c.1298del (p.Ser433fs)
|
|
|
NM_000282.4(PCCA):c.866_867del (p.Glu289fs)
|
rs760976198
|
|
NM_000282.4(PCCA):c.923dup (p.Leu308fs)
|
rs573607437
|
|
NM_000283.4(PDE6B):c.2193+1G>A
|
rs727504075
|
|
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys)
|
rs137853252
|
|
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)
|
rs267608216
|
|
NM_000293.3(PHKB):c.2896-1G>T
|
|
|
NM_000293.3(PHKB):c.3124del (p.Arg1041_Leu1042insTer)
|
|
|
NM_000294.3(PHKG2):c.698T>C (p.Phe233Ser)
|
|
|
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del)
|
rs775982338
|
|
NM_000297.4(PKD2):c.1365G>A (p.Trp455Ter)
|
rs1578135870
|
|
NM_000297.4(PKD2):c.1508del (p.Phe503fs)
|
|
|
NM_000297.4(PKD2):c.1671_1678del (p.Phe558fs)
|
rs1553926529
|
|
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter)
|
rs2110127334
|
|
NM_000297.4(PKD2):c.1864C>T (p.Gln622Ter)
|
|
|
NM_000297.4(PKD2):c.2019+1G>A
|
rs1553927080
|
|
NM_000297.4(PKD2):c.2159del (p.Asn720fs)
|
rs757757289
|
|
NM_000297.4(PKD2):c.2210del (p.Asn737fs)
|
|
|
NM_000297.4(PKD2):c.2435_2436del (p.Asp811_Ser812insTer)
|
|
|
NM_000297.4(PKD2):c.2508C>G (p.Tyr836Ter)
|
rs757682666
|
|
NM_000297.4(PKD2):c.253C>T (p.Gln85Ter)
|
|
|
NM_000297.4(PKD2):c.2548dup (p.Glu850fs)
|
|
|
NM_000297.4(PKD2):c.2770C>T (p.Gln924Ter)
|
|
|
NM_000297.4(PKD2):c.763C>T (p.Gln255Ter)
|
|
|
NM_000297.4(PKD2):c.958C>T (p.Arg320Ter)
|
rs749004212
|
|
NM_000297.4(PKD2):c.974G>A (p.Arg325Gln)
|
rs1727420867
|
|
NM_000298.6(PKLR):c.826del (p.Val276fs)
|
rs754939638
|
|
NM_000303.3(PMM2):c.710C>T (p.Thr237Met)
|
rs80338708
|
|
NM_000312.4(PROC):c.185A>C (p.Glu62Ala)
|
rs121918148
|
|
NM_000314.8(PTEN):c.368A>G (p.His123Arg)
|
rs121909222
|
|
NM_000314.8(PTEN):c.395G>T (p.Gly132Val)
|
rs121909241
|
|
NM_000314.8(PTEN):c.509G>T (p.Ser170Ile)
|
rs876660507
|
|
NM_000314.8(PTEN):c.511C>T (p.Gln171Ter)
|
rs786204864
|
|
NM_000314.8(PTEN):c.633C>A (p.Cys211Ter)
|
rs121909232
|
|
NM_000314.8(PTEN):c.634+1G>C
|
rs1114167622
|
|
NM_000314.8(PTEN):c.655C>T (p.Gln219Ter)
|
|
|
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)
|
rs121909219
|
|
NM_000314.8(PTEN):c.70G>T (p.Asp24Tyr)
|
rs786201995
|
|
NM_000314.8(PTEN):c.781C>T (p.Gln261Ter)
|
rs730882131
|
|
NM_000314.8(PTEN):c.822G>A (p.Trp274Ter)
|
rs587782607
|
|
NM_000314.8(PTEN):c.882_895del (p.Ser294fs)
|
|
|
NM_000314.8(PTEN):c.919G>T (p.Glu307Ter)
|
rs746930141
|
|
NM_000320.3(QDPR):c.105+2T>A
|
|
|
NM_000321.3(RB1):c.1147C>T (p.Gln383Ter)
|
rs1131690846
|
|
NM_000321.3(RB1):c.1215+1G>C
|
|
|
NM_000321.3(RB1):c.2486C>G (p.Ser829Ter)
|
|
|
NM_000321.3(RB1):c.371_372del (p.Ile124fs)
|
rs1566186125
|
|
NM_000321.3(RB1):c.735del (p.Ile246fs)
|
rs1131690847
|
|
NM_000330.4(RS1):c.208G>A (p.Gly70Ser)
|
rs62645894
|
|
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)
|
rs80338957
|
|
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met)
|
rs121908547
|
|
NM_000335.5(SCN5A):c.3142_3153delinsTCTGACTGTGT (p.Pro1048fs)
|
rs794728917
|
|
NM_000341.4(SLC3A1):c.1108C>T (p.Gln370Ter)
|
|
|
NM_000341.4(SLC3A1):c.1221dup (p.Pro408fs)
|
|
|
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys)
|
rs121912691
|
|
NM_000342.4(SLC4A1):c.1766G>A (p.Arg589His)
|
rs121912744
|
|
NM_000346.4(SOX9):c.164dup (p.Glu57fs)
|
|
|
NM_000350.3(ABCA4):c.4253+5G>T
|
rs61750138
|
|
NM_000350.3(ABCA4):c.470T>A (p.Leu157Ter)
|
rs953605928
|
|
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)
|
rs61753046
|
|
NM_000352.6(ABCC8):c.2117-2A>G
|
|
|
NM_000352.6(ABCC8):c.2117-2A>T
|
rs1476853180
|
|
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)
|
rs151344624
|
|
NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter)
|
rs758231286
|
|
NM_000355.4(TCN2):c.679C>T (p.Arg227Ter)
|
|
|
NM_000363.5(TNNI3):c.470C>T (p.Ala157Val)
|
rs397516353
|
|
NM_000368.5(TSC1):c.1416del (p.Ser472fs)
|
|
|
NM_000368.5(TSC1):c.1527dup (p.Asp510fs)
|
|
|
NM_000368.5(TSC1):c.1574_1584delinsTTTCCAAGGG (p.Ser525fs)
|
|
|
NM_000368.5(TSC1):c.2023del (p.Asp675fs)
|
rs118203620
|
|
NM_000368.5(TSC1):c.2282dup (p.Tyr761Ter)
|
|
|
NM_000368.5(TSC1):c.2299C>T (p.Gln767Ter)
|
rs118203675
|
|
NM_000368.5(TSC1):c.2524C>T (p.Gln842Ter)
|
rs1447417010
|
|
NM_000368.5(TSC1):c.433C>T (p.Gln145Ter)
|
rs118203382
|
|
NM_000371.4(TTR):c.206C>T (p.Thr69Ile)
|
rs1555631387
|
|
NM_000372.5(TYR):c.1353T>G (p.Tyr451Ter)
|
|
|
NM_000372.5(TYR):c.1424_1433del (p.Trp475fs)
|
rs1402167763
|
|
NM_000372.5(TYR):c.573del (p.Ser192fs)
|
|
|
NM_000372.5(TYR):c.895C>A (p.Arg299Ser)
|
rs61754374
|
|
NM_000374.5(UROD):c.943-1G>A
|
|
|
NM_000377.3(WAS):c.121C>T (p.Arg41Ter)
|
rs11545907
|
|
NM_000377.3(WAS):c.1453+1G>A
|
|
|
NM_000377.3(WAS):c.256C>T (p.Arg86Cys)
|
rs2062412810
|
|
NM_000377.3(WAS):c.881T>C (p.Ile294Thr)
|
rs387906717
|
|
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)
|
rs386833675
|
|
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
|
|
|
NM_000384.3(APOB):c.1468C>T (p.Arg490Trp)
|
rs771541567
|
|
NM_000387.6(SLC25A20):c.326+1del
|
rs757552268
|
|
NM_000387.6(SLC25A20):c.397C>T (p.Arg133Trp)
|
rs748394731
|
|
NM_000388.4(CASR):c.1056G>A (p.Trp352Ter)
|
rs2107632822
|
|
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys)
|
rs104893712
|
|
NM_000388.4(CASR):c.2770_2777del (p.Phe924fs)
|
|
|
NM_000388.4(CASR):c.554G>A (p.Arg185Gln)
|
rs104893689
|
|
NM_000388.4(CASR):c.662C>T (p.Pro221Leu)
|
rs397514728
|
|
NM_000388.4(CASR):c.680G>A (p.Arg227Gln)
|
rs28936684
|
|
NM_000388.4(CASR):c.680G>T (p.Arg227Leu)
|
rs28936684
|
|
NM_000390.4(CHM):c.130G>T (p.Gly44Ter)
|
rs886041175
|
|
NM_000390.4(CHM):c.1363del (p.Ala455fs)
|
rs1926208067
|
|
NM_000390.4(CHM):c.1511-1G>A
|
|
|
NM_000392.5(ABCC2):c.156T>A (p.Tyr52Ter)
|
rs1554845888
|
|
NM_000392.5(ABCC2):c.2414del (p.Gly805fs)
|
|
|
NM_000392.5(ABCC2):c.3615-2A>T
|
|
|
NM_000392.5(ABCC2):c.3928C>T (p.Arg1310Ter)
|
|
|
NM_000397.4(CYBB):c.217C>T (p.Arg73Ter)
|
rs137854588
|
|
NM_000397.4(CYBB):c.720_724del (p.Ile241fs)
|
|
|
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs)
|
rs587778271
|
|
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser)
|
rs192732174
|
|
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer)
|
rs758055753
|
|
NM_000419.5(ITGA2B):c.1234G>A (p.Gly412Arg)
|
rs780786843
|
|
NM_000421.5(KRT10):c.466C>T (p.Arg156Cys)
|
rs58852768
|
|
NM_000424.4(KRT5):c.1649del (p.Gly550fs)
|
rs61126080
|
|
NM_000424.4(KRT5):c.482T>G (p.Ile161Ser)
|
rs58058996
|
|
NM_000424.4(KRT5):c.74C>T (p.Pro25Leu)
|
rs57499817
|
|
NM_000426.4(LAMA2):c.5325dup (p.Leu1776fs)
|
rs768458445
|
|
NM_000429.3(MAT1A):c.776C>T (p.Ala259Val)
|
rs138556525
|
|
NM_000431.4(MVK):c.560_561del (p.Lys187fs)
|
|
|
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys)
|
rs104894368
|
|
NM_000434.4(NEU1):c.69G>A (p.Trp23Ter)
|
rs104893986
|
|
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys)
|
rs75068032
|
|
NM_000435.3(NOTCH3):c.194G>A (p.Cys65Tyr)
|
rs1555730176
|
|
NM_000435.3(NOTCH3):c.3011G>A (p.Cys1004Tyr)
|
rs1555727944
|
|
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys)
|
rs775836288
|
|
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys)
|
rs137852642
|
|
NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys)
|
rs1174625611
|
|
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys)
|
rs28933696
|
|
NM_000435.3(NOTCH3):c.521G>A (p.Cys174Tyr)
|
rs1555729486
|
|
NM_000435.3(NOTCH3):c.665G>A (p.Cys222Tyr)
|
rs1555729452
|
|
NM_000435.3(NOTCH3):c.773A>G (p.Tyr258Cys)
|
rs947976672
|
|
NM_000435.3(NOTCH3):c.994C>T (p.Arg332Cys)
|
rs137852641
|
|
NM_000441.1(SLC26A4):c.1342-2_1343dup
|
rs111033407
|
|
NM_000441.2(SLC26A4):c.416-1G>A
|
rs1057516988
|
|
NM_000443.4(ABCB4):c.1015dup (p.Ser339fs)
|
rs753104429
|
|
NM_000443.4(ABCB4):c.1371del (p.Gln458fs)
|
|
|
NM_000443.4(ABCB4):c.286+1G>A
|
|
|
NM_000443.4(ABCB4):c.3633+1G>T
|
rs1245472904
|
|
NM_000444.6(PHEX):c.1105A>T (p.Arg369Ter)
|
rs1930963832
|
|
NM_000444.6(PHEX):c.2104C>T (p.Arg702Ter)
|
rs886041226
|
|
NM_000444.6(PHEX):c.958A>T (p.Lys320Ter)
|
|
|
NM_000448.3(RAG1):c.1210C>T (p.Arg404Trp)
|
rs764981110
|
|
NM_000451.4(SHOX):c.442G>T (p.Glu148Ter)
|
|
|
NM_000453.3(SLC5A5):c.1593C>G (p.Tyr531Ter)
|
rs121909177
|
|
NM_000454.5(SOD1):c.131A>G (p.His44Arg)
|
rs121912435
|
|
NM_000454.5(SOD1):c.280G>A (p.Gly94Ser)
|
|
|
NM_000454.5(SOD1):c.319C>G (p.Leu107Val)
|
rs121912440
|
|
NM_000458.4(HNF1B):c.544+1G>T
|
|
|
NM_000458.4(HNF1B):c.785_786del (p.Glu262fs)
|
|
|
NM_000458.4(HNF1B):c.826C>G (p.Arg276Gly)
|
|
|
NM_000463.3(UGT1A1):c.1084G>A (p.Gly362Ser)
|
rs755218546
|
|
NM_000463.3(UGT1A1):c.238_239insGTAC (p.Pro80fs)
|
rs797046090
|
|
NM_000463.3(UGT1A1):c.353dup (p.Asp119fs)
|
rs748219743
|
|
NM_000463.3(UGT1A1):c.615del (p.Phe206fs)
|
|
|
NM_000465.4(BARD1):c.646del (p.Gln216fs)
|
rs1553622542
|
|
NM_000466.3(PEX1):c.1842del (p.Glu615fs)
|
rs267608176
|
|
NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter)
|
rs61750409
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_000466.3(PEX1):c.2479C>T (p.Arg827Ter)
|
rs1232449804
|
|
NM_000466.3(PEX1):c.643_647del (p.Thr215fs)
|
rs786204544
|
|
NM_000475.5(NR0B1):c.1069del (p.Gln357fs)
|
|
|
NM_000475.5(NR0B1):c.1273A>G (p.Arg425Gly)
|
|
|
NM_000475.5(NR0B1):c.670C>T (p.Gln224Ter)
|
|
|
NM_000475.5(NR0B1):c.702del (p.Trp235fs)
|
|
|
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp)
|
rs121918009
|
|
NM_000478.6(ALPL):c.1426G>A (p.Glu476Lys)
|
rs1057517173
|
|
NM_000478.6(ALPL):c.1474del (p.Ala492fs)
|
rs1558558976
|
|
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr)
|
rs121918013
|
|
NM_000478.6(ALPL):c.500C>T (p.Thr167Met)
|
rs1408325840
|
|
NM_000484.4(APP):c.2010_2011inv (p.Lys670_Met671delinsAsnLeu)
|
rs281865161
|
|
NM_000488.4(SERPINC1):c.277del (p.Thr93fs)
|
|
|
NM_000488.4(SERPINC1):c.41+2T>C
|
|
|
NM_000489.6(ATRX):c.6392G>A (p.Arg2131Gln)
|
rs122445101
|
|
NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter)
|
rs122445099
|
|
NM_000490.5(AVP):c.164C>T (p.Pro55Leu)
|
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.3(CFTR):c.1973_1985delinsAGAAA (p.Arg658fs)
|
rs121908780
|
|
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu)
|
rs397508137
|
|
NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs)
|
rs387906360
|
|
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs)
|
rs397508189
|
|
NM_000492.4(CFTR):c.1393-1G>A
|
rs397508200
|
|
NM_000492.4(CFTR):c.1558G>T (p.Val520Phe)
|
rs77646904
|
|
NM_000492.4(CFTR):c.1654C>T (p.Gln552Ter)
|
rs76554633
|
|
NM_000492.4(CFTR):c.169T>G (p.Trp57Gly)
|
rs397508272
|
|
NM_000492.4(CFTR):c.2052del (p.Lys684fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2490+1G>T
|
rs141158996
|
|
NM_000492.4(CFTR):c.2547C>A (p.Tyr849Ter)
|
rs397508394
|
|
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)
|
rs77834169
|
|
NM_000492.4(CFTR):c.3528del (p.Lys1177fs)
|
rs78984783
|
|
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val)
|
rs75389940
|
|
NM_000492.4(CFTR):c.4077_4080delinsAA (p.Val1360fs)
|
rs397508668
|
|
NM_000494.4(COL17A1):c.3613_3616del (p.Leu1205fs)
|
|
|
NM_000494.4(COL17A1):c.4145_4148del (p.Glu1382fs)
|
rs765243124
|
|
NM_000496.3(CRYBB2):c.463C>T (p.Gln155Ter)
|
rs74315489
|
|
NM_000497.4(CYP11B1):c.1181del (p.Asn394fs)
|
rs1256580853
|
|
NM_000497.4(CYP11B1):c.1486del (p.Leu496fs)
|
rs1554652528
|
|
NM_000500.9(CYP21A2):c.1226G>T (p.Arg409Leu)
|
|
|
NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs)
|
rs397509367
|
|
NM_000500.9(CYP21A2):c.233T>C (p.Ile78Thr)
|
|
|
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)
|
rs6471
|
|
NM_000501.4(ELN):c.1621C>T (p.Arg541Ter)
|
rs137854453
|
|
NM_000501.4(ELN):c.1697del (p.Ala566fs)
|
|
|
NM_000501.4(ELN):c.2058del (p.Gly688fs)
|
rs886039351
|
|
NM_000501.4(ELN):c.800-1G>A
|
rs2131847938
|
|
NM_000503.6(EYA1):c.1360+5G>A
|
|
|
NM_000503.6(EYA1):c.602C>G (p.Ser201Ter)
|
rs1563423589
|
|
NM_000503.6(EYA1):c.717T>G (p.Tyr239Ter)
|
|
|
NM_000503.6(EYA1):c.889C>T (p.Arg297Ter)
|
rs1131691667
|
|
NM_000503.6(EYA1):c.922C>T (p.Arg308Ter)
|
rs121909195
|
|
NM_000507.4(FBP1):c.960delinsGG (p.Ser321fs)
|
rs1057517733
|
|
NM_000512.5(GALNS):c.346G>A (p.Gly116Ser)
|
rs1444754604
|
|
NM_000512.5(GALNS):c.405_422+1del
|
rs398123437
|
|
NM_000516.7(GNAS):c.1125_1126del (p.Phe376fs)
|
|
|
NM_000516.7(GNAS):c.124C>T (p.Arg42Cys)
|
|
|
NM_000516.7(GNAS):c.312+5G>A
|
rs2146179050
|
|
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter)
|
rs797045046
|
|
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)
|
rs587776829
|
|
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys)
|
rs1601162438
|
|
NM_000516.7(GNAS):c.773G>A (p.Arg258Gln)
|
rs1555891584
|
|
NM_000516.7(GNAS):c.82A>T (p.Lys28Ter)
|
|
|
NM_000517.6(HBA2):c.99G>A (p.Met33Ile)
|
rs41515552
|
|
NM_000518.5(HBB):c.126_129del (p.Phe42fs)
|
rs80356821
|
|
NM_000518.5(HBB):c.17_18del (p.Pro6fs)
|
rs34889882
|
|
NM_000518.5(HBB):c.27dup (p.Ser10fs)
|
rs35699606
|
|
NM_000518.5(HBB):c.316-3C>A
|
rs33913413
|
|
NM_000518.5(HBB):c.92+1G>T
|
rs33971440
|
|
NM_000520.6(HEXA):c.1499del (p.Leu500fs)
|
rs1567295184
|
|
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter)
|
rs150675340
|
|
NM_000520.6(HEXA):c.805+1G>A
|
rs121907980
|
|
NM_000521.4(HEXB):c.445+1G>C
|
rs761197472
|
|
NM_000523.4(HOXD13):c.186_212dup (p.Ala63_Ala71dup)
|
rs760539494
|
|
NM_000526.5(KRT14):c.373C>T (p.Arg125Cys)
|
rs60399023
|
|
NM_000526.5(KRT14):c.374G>A (p.Arg125His)
|
rs58330629
|
|
NM_000527.4(LDLR):c.313+1G>A
|
|
|
NM_000527.5(LDLR):c.1020C>A (p.Cys340Ter)
|
|
|
NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys)
|
rs879254800
|
|
NM_000527.5(LDLR):c.1257C>G (p.Tyr419Ter)
|
rs774439908
|
|
NM_000527.5(LDLR):c.1322T>C (p.Ile441Thr)
|
rs879254862
|
|
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs)
|
rs869025453
|
|
NM_000527.5(LDLR):c.1492_1493del (p.Val498fs)
|
rs2077419354
|
|
NM_000527.5(LDLR):c.1681C>T (p.Gln561Ter)
|
rs879254981
|
|
NM_000527.5(LDLR):c.1705+1G>A
|
rs875989926
|
|
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
|
|
|
NM_000527.5(LDLR):c.2001T>G (p.Cys667Trp)
|
rs879255109
|
|
NM_000527.5(LDLR):c.2140+1G>A
|
rs145787161
|
|
NM_000527.5(LDLR):c.269A>G (p.Asp90Gly)
|
rs771019366
|
|
NM_000527.5(LDLR):c.313+1G>C
|
rs112029328
|
|
NM_000527.5(LDLR):c.428G>A (p.Cys143Tyr)
|
rs879254522
|
|
NM_000527.5(LDLR):c.622G>A (p.Glu208Lys)
|
rs879254597
|
|
NM_000527.5(LDLR):c.818-2A>G
|
|
|
NM_000531.6(OTC):c.596A>T (p.Asn199Ile)
|
|
|
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)
|
rs397507445
|
|
NM_000535.7(PMS2):c.1891C>T (p.Gln631Ter)
|
rs1060503138
|
|
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)
|
rs201451115
|
|
NM_000535.7(PMS2):c.2041C>T (p.Gln681Ter)
|
rs1782465728
|
|
NM_000535.7(PMS2):c.2117del (p.Lys706fs)
|
rs587782704
|
|
NM_000535.7(PMS2):c.2156del (p.Gln719fs)
|
rs786201062
|
|
NM_000535.7(PMS2):c.2T>A (p.Met1Lys)
|
rs587780059
|
|
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)
|
rs267608150
|
|
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter)
|
rs573125799
|
|
NM_000535.7(PMS2):c.861_864del (p.Arg287fs)
|
rs267608154
|
|
NM_000535.7(PMS2):c.862_863del (p.Gln288fs)
|
rs63750246
|
|
NM_000536.4(RAG2):c.104G>T (p.Gly35Val)
|
rs148508754
|
|
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu)
|
rs193922572
|
|
NM_000539.3(RHO):c.151G>C (p.Gly51Arg)
|
rs104893792
|
|
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg)
|
rs121918592
|
|
NM_000540.3(RYR1):c.10347+1G>A
|
rs111436401
|
|
NM_000540.3(RYR1):c.11320dup (p.Ala3774fs)
|
rs768698639
|
|
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu)
|
rs794728696
|
|
NM_000540.3(RYR1):c.12978del (p.Glu4327fs)
|
rs1568582893
|
|
NM_000540.3(RYR1):c.13013_13032del (p.Ala4338fs)
|
rs193922856
|
|
NM_000540.3(RYR1):c.13220del (p.Gly4407fs)
|
rs1568583728
|
|
NM_000540.3(RYR1):c.13437+1G>A
|
rs1568584452
|
|
NM_000540.3(RYR1):c.13900G>A (p.Glu4634Lys)
|
rs118192133
|
|
NM_000540.3(RYR1):c.13909A>G (p.Thr4637Ala)
|
rs118192166
|
|
NM_000540.3(RYR1):c.13913G>A (p.Gly4638Asp)
|
rs118192135
|
|
NM_000540.3(RYR1):c.13919T>G (p.Met4640Arg)
|
rs1568594068
|
|
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)
|
rs193922868
|
|
NM_000540.3(RYR1):c.14477C>T (p.Thr4826Ile)
|
rs121918595
|
|
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys)
|
rs118192181
|
|
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His)
|
rs63749869
|
|
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp)
|
rs118192150
|
|
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln)
|
rs118192151
|
|
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)
|
rs118192170
|
|
NM_000540.3(RYR1):c.14741G>C (p.Arg4914Thr)
|
rs118192154
|
|
NM_000540.3(RYR1):c.14869-1G>T
|
rs193922897
|
|
NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu)
|
rs193922772
|
|
NM_000540.3(RYR1):c.1982G>A (p.Trp661Ter)
|
rs748492214
|
|
NM_000540.3(RYR1):c.2029C>T (p.Gln677Ter)
|
rs878854365
|
|
NM_000540.3(RYR1):c.2989C>T (p.Arg997Ter)
|
rs758925580
|
|
NM_000540.3(RYR1):c.487C>T (p.Arg163Cys)
|
rs118192161
|
|
NM_000540.3(RYR1):c.528G>T (p.Glu176Asp)
|
rs1568436081
|
|
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His)
|
rs118192163
|
|
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met)
|
rs118192176
|
|
NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del)
|
rs121918596
|
|
NM_000540.3(RYR1):c.7048G>A (p.Ala2350Thr)
|
rs193922802
|
|
NM_000540.3(RYR1):c.7304G>A (p.Arg2435His)
|
rs28933396
|
|
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp)
|
rs118192124
|
|
NM_000540.3(RYR1):c.742G>A (p.Gly248Arg)
|
rs1801086
|
|
NM_000540.3(RYR1):c.742G>C (p.Gly248Arg)
|
rs1801086
|
|
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)
|
rs118192178
|
|
NM_000540.3(RYR1):c.7523G>A (p.Arg2508His)
|
rs193922818
|
|
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs)
|
rs758580075
|
|
NM_000540.3(RYR1):c.8463G>A (p.Trp2821Ter)
|
rs1057518773
|
|
NM_000540.3(RYR1):c.9499C>T (p.Arg3167Ter)
|
rs1171637302
|
|
NM_000543.5(SMPD1):c.1420_1421del (p.Leu474fs)
|
rs398123476
|
|
NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del)
|
rs120074118
|
|
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter)
|
rs786204506
|
|
NM_000545.8(HNF1A):c.1137del (p.Val380fs)
|
rs1555212248
|
|
NM_000545.8(HNF1A):c.1364_1368del (p.Ser455fs)
|
|
|
NM_000545.8(HNF1A):c.1766_1767del (p.Thr589fs)
|
|
|
NM_000545.8(HNF1A):c.476G>A (p.Arg159Gln)
|
rs1172328722
|
|
NM_000545.8(HNF1A):c.686G>A (p.Arg229Gln)
|
rs1057520779
|
|
NM_000545.8(HNF1A):c.943del (p.Ser315fs)
|
|
|
NM_000546.6(TP53):c.1015G>T (p.Glu339Ter)
|
rs17882252
|
|
NM_000546.6(TP53):c.375G>C (p.Thr125=)
|
rs55863639
|
|
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr)
|
rs786202962
|
|
NM_000546.6(TP53):c.626_627del (p.Arg209fs)
|
rs1057517840
|
|
NM_000546.6(TP53):c.702C>A (p.Tyr234Ter)
|
|
|
NM_000546.6(TP53):c.779_782+13del
|
|
|
NM_000546.6(TP53):c.891_915dup (p.Ala307_Leu308insAlaProArgGluHisTer)
|
rs2073171970
|
|
NM_000548.5(TSC2):c.1210C>T (p.Gln404Ter)
|
rs45457701
|
|
NM_000548.5(TSC2):c.2225C>G (p.Ser742Ter)
|
rs45517220
|
|
NM_000548.5(TSC2):c.226-1G>A
|
rs397515134
|
|
NM_000548.5(TSC2):c.2587G>T (p.Glu863Ter)
|
|
|
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln)
|
rs45517259
|
|
NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter)
|
rs45465195
|
|
NM_000548.5(TSC2):c.3337dup (p.Glu1113fs)
|
rs397515144
|
|
NM_000548.5(TSC2):c.3343C>T (p.Gln1115Ter)
|
rs137854253
|
|
NM_000548.5(TSC2):c.3747_3748del (p.Tyr1250fs)
|
rs1555512486
|
|
NM_000548.5(TSC2):c.4672G>T (p.Glu1558Ter)
|
rs45517360
|
|
NM_000548.5(TSC2):c.4779C>G (p.Tyr1593Ter)
|
rs45517368
|
|
NM_000548.5(TSC2):c.4849+1G>T
|
rs45517375
|
|
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp)
|
rs45517412
|
|
NM_000548.5(TSC2):c.911G>A (p.Trp304Ter)
|
rs45517140
|
|
NM_000548.5(TSC2):c.976-15G>A
|
rs45517150
|
|
NM_000550.3(TYRP1):c.176C>G (p.Ser59Ter)
|
|
|
NM_000551.4(VHL):c.208G>T (p.Glu70Ter)
|
rs5030802
|
|
NM_000551.4(VHL):c.217C>T (p.Gln73Ter)
|
rs869025619
|
|
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del)
|
rs5030648
|
|
NM_000551.4(VHL):c.233A>C (p.Asn78Thr)
|
rs5030804
|
|
NM_000551.4(VHL):c.233A>G (p.Asn78Ser)
|
rs5030804
|
|
NM_000551.4(VHL):c.262T>A (p.Trp88Arg)
|
rs1553619431
|
|
NM_000551.4(VHL):c.320G>A (p.Arg107His)
|
rs193922609
|
|
NM_000551.4(VHL):c.329del (p.His110fs)
|
rs1559426199
|
|
NM_000551.4(VHL):c.334T>C (p.Tyr112His)
|
rs104893824
|
|
NM_000551.4(VHL):c.362A>G (p.Asp121Gly)
|
rs5030832
|
|
NM_000551.4(VHL):c.407T>C (p.Phe136Ser)
|
rs5030833
|
|
NM_000551.4(VHL):c.408del (p.Phe136fs)
|
rs397516442
|
|
NM_000551.4(VHL):c.482G>A (p.Arg161Gln)
|
rs730882035
|
|
NM_000551.4(VHL):c.486C>G (p.Cys162Trp)
|
rs5030622
|
|
NM_000551.4(VHL):c.500G>A (p.Arg167Gln)
|
rs5030821
|
|
NM_000552.5(VWF):c.1093C>T (p.Arg365Ter)
|
rs61754003
|
|
NM_000552.5(VWF):c.2438dup (p.Met814fs)
|
|
|
NM_000552.5(VWF):c.3614G>A (p.Arg1205His)
|
rs121964895
|
|
NM_000552.5(VWF):c.4022G>A (p.Arg1341Gln)
|
rs61749403
|
|
NM_000552.5(VWF):c.4176del (p.Met1393fs)
|
|
|
NM_000552.5(VWF):c.6798+1G>T
|
rs61750624
|
|
NM_000552.5(VWF):c.7483del (p.Leu2495fs)
|
rs1229452874
|
|
NM_000552.5(VWF):c.8419_8422dup (p.Pro2808fs)
|
|
|
NM_000612.6(IGF2):c.157+5G>A
|
|
|
NM_000617.3(SLC11A2):c.223G>A (p.Gly75Arg)
|
rs1592380743
|
|
NM_000702.4(ATP1A2):c.1816G>A (p.Ala606Thr)
|
rs1414742926
|
|
NM_000702.4(ATP1A2):c.889G>A (p.Ala297Thr)
|
rs181618883
|
|
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.526del (p.Asp176fs)
|
rs765512351
|
|
NM_000789.4(ACE):c.3503+1G>A
|
|
|
NM_000789.4(ACE):c.3521del (p.Gly1174fs)
|
rs754265941
|
|
NM_000789.4(ACE):c.444_445insTTAGC (p.Arg149fs)
|
rs778759606
|
|
NM_000821.7(GGCX):c.944G>A (p.Trp315Ter)
|
|
|
NM_000834.5(GRIN2B):c.2459G>T (p.Gly820Val)
|
rs797044849
|
|
NM_000860.6(HPGD):c.310_311del (p.Leu104fs)
|
rs587777719
|
|
NM_000892.5(KLKB1):c.451dup (p.Ser151fs)
|
rs560588447
|
|
NM_000901.5(NR3C2):c.1951C>T (p.Arg651Ter)
|
rs1131691921
|
|
NM_000901.5(NR3C2):c.2799+1G>A
|
|
|
NM_000975.5(RPL11):c.60_61del (p.Cys21fs)
|
rs1570566590
|
|
NM_001002295.2(GATA3):c.431dup (p.His145fs)
|
rs1588377948
|
|
NM_001003694.2(BRPF1):c.789del (p.Gly264fs)
|
|
|
NM_001003841.3(SLC6A19):c.1173+2T>G
|
rs142979576
|
|
NM_001005242.3(PKP2):c.1125_1132del (p.Phe376fs)
|
rs794729124
|
|
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys)
|
rs121909092
|
|
NM_001007527.2(LMBRD2):c.1448G>A (p.Arg483His)
|
rs2111857835
|
|
NM_001008537.3(NEXMIF):c.3166_3175del (p.Ser1056fs)
|
|
|
NM_001009944.3(PKD1):c.10140_10143del (p.Phe3380fs)
|
|
|
NM_001009944.3(PKD1):c.1021dup (p.Ala341fs)
|
|
|
NM_001009944.3(PKD1):c.10397C>G (p.Ser3466Ter)
|
|
|
NM_001009944.3(PKD1):c.10619-2A>G
|
|
|
NM_001009944.3(PKD1):c.10966del (p.Leu3656fs)
|
|
|
NM_001009944.3(PKD1):c.11033del (p.Met3678fs)
|
rs1555446637
|
|
NM_001009944.3(PKD1):c.11235dup (p.Pro3746fs)
|
|
|
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln)
|
rs1555446330
|
|
NM_001009944.3(PKD1):c.11270-25_11316del
|
|
|
NM_001009944.3(PKD1):c.11379del (p.Thr3794fs)
|
rs1567153758
|
|
NM_001009944.3(PKD1):c.11386dup (p.Ala3796fs)
|
|
|
NM_001009944.3(PKD1):c.11454del (p.Tyr3819fs)
|
rs2091600536
|
|
NM_001009944.3(PKD1):c.11552_11557del (p.Phe3851_Glu3853delinsTer)
|
|
|
NM_001009944.3(PKD1):c.11713-2A>G
|
rs1555445274
|
|
NM_001009944.3(PKD1):c.11729_11747del (p.Phe3910fs)
|
|
|
NM_001009944.3(PKD1):c.11773G>T (p.Glu3925Ter)
|
|
|
NM_001009944.3(PKD1):c.11805dup (p.Trp3936fs)
|
|
|
NM_001009944.3(PKD1):c.12382G>T (p.Glu4128Ter)
|
|
|
NM_001009944.3(PKD1):c.12386TGG[1] (p.Val4130del)
|
|
|
NM_001009944.3(PKD1):c.12608_12635del (p.Arg4203fs)
|
|
|
NM_001009944.3(PKD1):c.12673C>T (p.Gln4225Ter)
|
rs2091395464
|
|
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter)
|
rs1045675831
|
|
NM_001009944.3(PKD1):c.12739C>T (p.Gln4247Ter)
|
|
|
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg)
|
rs1555458704
|
|
NM_001009944.3(PKD1):c.1583A>G (p.Tyr528Cys)
|
rs750798165
|
|
NM_001009944.3(PKD1):c.1584del (p.Ser527_Tyr528insTer)
|
|
|
NM_001009944.3(PKD1):c.1589G>A (p.Cys530Tyr)
|
|
|
NM_001009944.3(PKD1):c.1663G>T (p.Gly555Ter)
|
|
|
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp)
|
rs1555458413
|
|
NM_001009944.3(PKD1):c.2038del (p.Tyr680fs)
|
rs1448641464
|
|
NM_001009944.3(PKD1):c.3401_3404del (p.Ser1134fs)
|
rs1567204146
|
|
NM_001009944.3(PKD1):c.3520C>T (p.Gln1174Ter)
|
rs1057518899
|
|
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del)
|
rs1567202750
|
|
NM_001009944.3(PKD1):c.3802C>T (p.Gln1268Ter)
|
|
|
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg)
|
rs747362311
|
|
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs)
|
rs1596560540
|
|
NM_001009944.3(PKD1):c.4177C>T (p.Gln1393Ter)
|
rs1567201083
|
|
NM_001009944.3(PKD1):c.4230C>A (p.Tyr1410Ter)
|
|
|
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter)
|
rs1567200516
|
|
NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter)
|
rs1238351274
|
|
NM_001009944.3(PKD1):c.4551C>G (p.Tyr1517Ter)
|
rs1238351274
|
|
NM_001009944.3(PKD1):c.4745G>A (p.Trp1582Ter)
|
|
|
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del)
|
rs1567198691
|
|
NM_001009944.3(PKD1):c.5516G>A (p.Trp1839Ter)
|
|
|
NM_001009944.3(PKD1):c.5553_5557del (p.Val1852fs)
|
|
|
NM_001009944.3(PKD1):c.5824dup (p.Arg1942fs)
|
|
|
NM_001009944.3(PKD1):c.6031C>T (p.Gln2011Ter)
|
rs1555454739
|
|
NM_001009944.3(PKD1):c.6040C>T (p.Gln2014Ter)
|
rs2151790199
|
|
NM_001009944.3(PKD1):c.6184C>T (p.Gln2062Ter)
|
rs750843149
|
|
NM_001009944.3(PKD1):c.6281G>A (p.Trp2094Ter)
|
|
|
NM_001009944.3(PKD1):c.6504C>A (p.Tyr2168Ter)
|
|
|
NM_001009944.3(PKD1):c.6508dup (p.Glu2170fs)
|
rs1567192623
|
|
NM_001009944.3(PKD1):c.6657_6671del (p.Arg2220_Pro2224del)
|
rs2151786683
|
|
NM_001009944.3(PKD1):c.6736C>T (p.Gln2246Ter)
|
rs1567191534
|
|
NM_001009944.3(PKD1):c.6916-9G>A
|
rs1567190244
|
|
NM_001009944.3(PKD1):c.7066-2A>G
|
|
|
NM_001009944.3(PKD1):c.7292T>A (p.Leu2431Gln)
|
rs2092344562
|
|
NM_001009944.3(PKD1):c.7422del (p.Ser2475fs)
|
|
|
NM_001009944.3(PKD1):c.755dup (p.Pro253fs)
|
rs1352019198
|
|
NM_001009944.3(PKD1):c.7672C>T (p.Gln2558Ter)
|
|
|
NM_001009944.3(PKD1):c.78_96dup (p.Cys33fs)
|
|
|
NM_001009944.3(PKD1):c.7987C>T (p.Gln2663Ter)
|
rs1567182193
|
|
NM_001009944.3(PKD1):c.8017-3C>G
|
|
|
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer)
|
rs1555459108
|
|
NM_001009944.3(PKD1):c.8925dup (p.Tyr2976fs)
|
|
|
NM_001009944.3(PKD1):c.9040dup (p.Leu3014fs)
|
|
|
NM_001009944.3(PKD1):c.9320_9324dup (p.Ile3109fs)
|
|
|
NM_001009944.3(PKD1):c.9378_9383dup (p.Trp3128Ter)
|
|
|
NM_001009944.3(PKD1):c.9397+1G>C
|
|
|
NM_001009944.3(PKD1):c.9568+1G>T
|
rs2092046394
|
|
NM_001009944.3(PKD1):c.9585G>A (p.Trp3195Ter)
|
rs1596514027
|
|
NM_001009944.3(PKD1):c.9670G>T (p.Glu3224Ter)
|
|
|
NM_001010892.3(RSPH4A):c.921+3_921+6del
|
rs869320683
|
|
NM_001013703.4(EIF2AK4):c.1061del (p.Ser354fs)
|
|
|
NM_001017420.3(ESCO2):c.307_311del (p.Lys103fs)
|
rs80359846
|
|
NM_001017420.3(ESCO2):c.760dup (p.Thr254fs)
|
rs80359852
|
|
NM_001017995.3(SH3PXD2B):c.330del (p.Tyr111fs)
|
|
|
NM_001022.4(RPS19):c.184C>T (p.Arg62Trp)
|
rs104894711
|
|
NM_001022.4(RPS19):c.185G>A (p.Arg62Gln)
|
rs1555841301
|
|
NM_001024630.4(RUNX2):c.1182T>A (p.Tyr394Ter)
|
|
|
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln)
|
rs104893991
|
|
NM_001029883.3(PCARE):c.2967del (p.Val990fs)
|
rs1667476173
|
|
NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter)
|
rs367658438
|
|
NM_001029896.2(WDR45):c.558_561dup (p.Ile188fs)
|
|
|
NM_001029896.2(WDR45):c.951del (p.Lys318fs)
|
|
|
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter)
|
rs1557041672
|
|
NM_001034853.2(RPGR):c.1054_1058del (p.Lys352fs)
|
rs1555965081
|
|
NM_001034853.2(RPGR):c.1092dup (p.Ala365fs)
|
rs281865301
|
|
NM_001034853.2(RPGR):c.1120G>T (p.Glu374Ter)
|
rs62635001
|
|
NM_001034853.2(RPGR):c.1216_1217del (p.Leu406fs)
|
rs2067448565
|
|
NM_001034853.2(RPGR):c.1217dup (p.Ser407fs)
|
rs1601943325
|
|
NM_001034853.2(RPGR):c.1234C>T (p.Arg412Ter)
|
rs1601943268
|
|
NM_001034853.2(RPGR):c.1243_1244del (p.Arg415fs)
|
rs281865302
|
|
NM_001034853.2(RPGR):c.1345C>T (p.Arg449Ter)
|
rs2067406342
|
|
NM_001034853.2(RPGR):c.155-1G>A
|
rs1601982595
|
|
NM_001034853.2(RPGR):c.155-2A>G
|
rs62638632
|
|
NM_001034853.2(RPGR):c.1561C>T (p.Gln521Ter)
|
|
|
NM_001034853.2(RPGR):c.179G>T (p.Gly60Val)
|
rs62638634
|
|
NM_001034853.2(RPGR):c.2105_2213dup (p.Glu742fs)
|
|
|
NM_001034853.2(RPGR):c.2146G>T (p.Glu716Ter)
|
rs2067191335
|
|
NM_001034853.2(RPGR):c.2218G>T (p.Glu740Ter)
|
rs983693027
|
|
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs)
|
rs1555961852
|
|
NM_001034853.2(RPGR):c.2246_2253del (p.Glu749fs)
|
|
|
NM_001034853.2(RPGR):c.2252_2255del (p.Lys751fs)
|
rs1475590979
|
|
NM_001034853.2(RPGR):c.2257G>T (p.Gly753Ter)
|
rs267606453
|
|
NM_001034853.2(RPGR):c.2257_2260del (p.Gly753fs)
|
rs2067187618
|
|
NM_001034853.2(RPGR):c.2260G>T (p.Glu754Ter)
|
rs2067187550
|
|
NM_001034853.2(RPGR):c.2270_2271del (p.Glu757fs)
|
|
|
NM_001034853.2(RPGR):c.2274_2277del (p.Gly759fs)
|
|
|
NM_001034853.2(RPGR):c.2323_2324del (p.Arg775fs)
|
rs1555961832
|
|
NM_001034853.2(RPGR):c.2340del (p.Ala781fs)
|
rs2067185564
|
|
NM_001034853.2(RPGR):c.2384del (p.Glu795fs)
|
rs1569237206
|
|
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs)
|
rs398122960
|
|
NM_001034853.2(RPGR):c.2412_2413del (p.Glu806fs)
|
rs2067182636
|
|
NM_001034853.2(RPGR):c.2412_2418del (p.Gly805fs)
|
|
|
NM_001034853.2(RPGR):c.2423_2424del (p.Lys808fs)
|
|
|
NM_001034853.2(RPGR):c.2426_2427del (p.Glu809fs)
|
rs730882261
|
|
NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs)
|
rs1569237077
|
|
NM_001034853.2(RPGR):c.2476_2477del (p.Arg826fs)
|
rs2067179633
|
|
NM_001034853.2(RPGR):c.2491G>T (p.Glu831Ter)
|
rs865977487
|
|
NM_001034853.2(RPGR):c.2501_2502del (p.Glu834fs)
|
|
|
NM_001034853.2(RPGR):c.2505_2506del (p.Glu836fs)
|
rs1569236971
|
|
NM_001034853.2(RPGR):c.2506del (p.Glu836fs)
|
|
|
NM_001034853.2(RPGR):c.2517_2518del (p.Glu841fs)
|
rs1373833359
|
|
NM_001034853.2(RPGR):c.2522del (p.Glu841fs)
|
rs1601922202
|
|
NM_001034853.2(RPGR):c.2548del (p.Glu850fs)
|
rs2067174697
|
|
NM_001034853.2(RPGR):c.2562del (p.Glu855fs)
|
|
|
NM_001034853.2(RPGR):c.2590G>T (p.Glu864Ter)
|
|
|
NM_001034853.2(RPGR):c.2601_2602del (p.Glu868fs)
|
rs2067169934
|
|
NM_001034853.2(RPGR):c.2625dup (p.Gly876fs)
|
|
|
NM_001034853.2(RPGR):c.2644G>T (p.Glu882Ter)
|
|
|
NM_001034853.2(RPGR):c.2650G>T (p.Glu884Ter)
|
rs137852549
|
|
NM_001034853.2(RPGR):c.2655_2656del (p.Glu886fs)
|
rs2067164096
|
|
NM_001034853.2(RPGR):c.2679_2680del (p.Glu894fs)
|
rs2147195624
|
|
NM_001034853.2(RPGR):c.2714_2715del (p.Glu905fs)
|
rs2067160273
|
|
NM_001034853.2(RPGR):c.2730_2731del (p.Glu911fs)
|
|
|
NM_001034853.2(RPGR):c.2743G>T (p.Glu915Ter)
|
|
|
NM_001034853.2(RPGR):c.2763_2764del (p.Glu922fs)
|
rs2067157388
|
|
NM_001034853.2(RPGR):c.2791del (p.Glu931fs)
|
|
|
NM_001034853.2(RPGR):c.28+1G>A
|
rs62638627
|
|
NM_001034853.2(RPGR):c.2838_2839del (p.Glu947fs)
|
rs1555961509
|
|
NM_001034853.2(RPGR):c.2862dup (p.Trp955fs)
|
|
|
NM_001034853.2(RPGR):c.2863_2866del (p.Trp955fs)
|
|
|
NM_001034853.2(RPGR):c.2937_2938del (p.Glu980fs)
|
rs2067138439
|
|
NM_001034853.2(RPGR):c.2964_2965del (p.Glu989fs)
|
rs1555961440
|
|
NM_001034853.2(RPGR):c.2965G>T (p.Glu989Ter)
|
|
|
NM_001034853.2(RPGR):c.2997_2998del (p.Glu1000fs)
|
|
|
NM_001034853.2(RPGR):c.3027_3028del (p.Glu1010fs)
|
rs1569235565
|
|
NM_001034853.2(RPGR):c.3039_3040del (p.Glu1014fs)
|
rs2067127718
|
|
NM_001034853.2(RPGR):c.3050_3051del (p.Glu1017fs)
|
|
|
NM_001034853.2(RPGR):c.3092_3093del (p.Glu1031fs)
|
rs606231181
|
|
NM_001034853.2(RPGR):c.3092del (p.Glu1031fs)
|
rs1186795749
|
|
NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs)
|
rs606231180
|
|
NM_001034853.2(RPGR):c.3178_3179del (p.Glu1060fs)
|
rs771214648
|
|
NM_001034853.2(RPGR):c.3308_3309del (p.Tyr1103fs)
|
|
|
NM_001034853.2(RPGR):c.379A>G (p.Arg127Gly)
|
rs62638643
|
|
NM_001034853.2(RPGR):c.517G>C (p.Gly173Arg)
|
rs137852550
|
|
NM_001034853.2(RPGR):c.706C>T (p.Gln236Ter)
|
rs62638652
|
|
NM_001034853.2(RPGR):c.779-1G>A
|
rs62638655
|
|
NM_001034853.2(RPGR):c.81del (p.Gly28fs)
|
|
|
NM_001034853.2(RPGR):c.869del (p.Glu290fs)
|
rs62640588
|
|
NM_001037333.3(CYFIP2):c.259C>A (p.Arg87Ser)
|
rs1131692231
|
|
NM_001039141.3(TRIOBP):c.2581C>T (p.Arg861Ter)
|
|
|
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val)
|
rs387906686
|
|
NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter)
|
rs878853865
|
|
NM_001042492.3(NF1):c.1527+1G>C
|
rs1060500331
|
|
NM_001042492.3(NF1):c.1527+2T>G
|
rs1064796700
|
|
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs)
|
rs786202782
|
|
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)
|
rs199474738
|
|
NM_001042492.3(NF1):c.2033dup (p.Ile679fs)
|
rs587781807
|
|
NM_001042492.3(NF1):c.2044C>T (p.Gln682Ter)
|
rs1597712392
|
|
NM_001042492.3(NF1):c.2674del (p.Ser892fs)
|
rs1555614296
|
|
NM_001042492.3(NF1):c.288+1G>T
|
rs1567816131
|
|
NM_001042492.3(NF1):c.3047_3048del (p.Cys1016fs)
|
rs1597716910
|
|
NM_001042492.3(NF1):c.3113+1G>A
|
rs267606599
|
|
NM_001042492.3(NF1):c.3127G>T (p.Glu1043Ter)
|
|
|
NM_001042492.3(NF1):c.3232dup (p.Ser1078fs)
|
rs2151433720
|
|
NM_001042492.3(NF1):c.334C>T (p.Gln112Ter)
|
rs1555606061
|
|
NM_001042492.3(NF1):c.338dup (p.Leu113fs)
|
rs1597635740
|
|
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val)
|
rs1187097568
|
|
NM_001042492.3(NF1):c.3455_3456dup (p.Leu1153fs)
|
|
|
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs)
|
rs1321848637
|
|
NM_001042492.3(NF1):c.3520C>T (p.Gln1174Ter)
|
rs868450405
|
|
NM_001042492.3(NF1):c.3541del (p.Glu1181fs)
|
|
|
NM_001042492.3(NF1):c.3737dup (p.Phe1247fs)
|
rs1555615445
|
|
NM_001042492.3(NF1):c.3822_3823del (p.Phe1275fs)
|
rs1555615472
|
|
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly)
|
rs199474742
|
|
NM_001042492.3(NF1):c.4289dup (p.Pro1431fs)
|
|
|
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del)
|
rs267606607
|
|
NM_001042492.3(NF1):c.4697_4701del (p.Ser1566fs)
|
|
|
NM_001042492.3(NF1):c.480-1G>A
|
rs2065902916
|
|
NM_001042492.3(NF1):c.4902delinsAA (p.Tyr1634Ter)
|
|
|
NM_001042492.3(NF1):c.5103_5104del (p.Lys1701_Gly1702insTer)
|
|
|
NM_001042492.3(NF1):c.5581_5584del (p.Leu1860_Asn1861insTer)
|
|
|
NM_001042492.3(NF1):c.586+1G>T
|
rs1555607126
|
|
NM_001042492.3(NF1):c.5886dup (p.Asn1963Ter)
|
rs2069603579
|
|
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter)
|
rs137854552
|
|
NM_001042492.3(NF1):c.60+1G>A
|
rs1555594500
|
|
NM_001042492.3(NF1):c.6585_6586dup (p.Thr2196fs)
|
|
|
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter)
|
rs772295894
|
|
NM_001042492.3(NF1):c.7063-1G>C
|
rs1131691114
|
|
NM_001042492.3(NF1):c.7113C>A (p.Cys2371Ter)
|
rs2069867490
|
|
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter)
|
rs786202457
|
|
NM_001042492.3(NF1):c.7458-1G>A
|
rs1597862012
|
|
NM_001042492.3(NF1):c.755dup (p.Leu252fs)
|
|
|
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)
|
rs786201367
|
|
NM_001042492.3(NF1):c.8016C>A (p.Cys2672Ter)
|
|
|
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter)
|
rs786203950
|
|
NM_001042492.3(NF1):c.984T>A (p.Cys328Ter)
|
|
|
NM_001046.3(SLC12A2):c.1228C>T (p.Arg410Ter)
|
|
|
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)
|
rs587778536
|
|
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)
|
rs587780078
|
|
NM_001048174.2(MUTYH):c.1351G>T (p.Glu451Ter)
|
rs376790729
|
|
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His)
|
rs143353451
|
|
NM_001069.3(TUBB2A):c.292G>C (p.Gly98Arg)
|
rs1064795334
|
|
NM_001072.4(UGT1A6):c.862-6831_862-6829dup
|
|
|
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)
|
rs398124245
|
|
NM_001079.4(ZAP70):c.1624-11G>A
|
rs730880318
|
|
NM_001079668.3(NKX2-1):c.915del (p.Ala306fs)
|
|
|
NM_001079802.2(FKTN):c.329_330del (p.Phe110fs)
|
rs767865405
|
|
NM_001080517.3(SETD5):c.1498C>T (p.Gln500Ter)
|
rs1559427364
|
|
NM_001080522.2(CC2D2A):c.3289delG
|
rs386833751
|
|
NM_001081.4(CUBN):c.5913_5916del (p.Thr1972fs)
|
rs765301342
|
|
NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs)
|
rs757649673
|
|
NM_001081.4(CUBN):c.8355del (p.Asp2786fs)
|
|
|
NM_001083116.3(PRF1):c.904G>T (p.Glu302Ter)
|
|
|
NM_001083962.2(TCF4):c.1238del (p.Gly413fs)
|
|
|
NM_001083962.2(TCF4):c.1727G>A (p.Arg576Gln)
|
rs1057521070
|
|
NM_001083962.2(TCF4):c.1733G>A (p.Arg578His)
|
rs121909123
|
|
NM_001084.5(PLOD3):c.1354C>T (p.Arg452Ter)
|
|
|
NM_001089.3(ABCA3):c.2404_2405del (p.Ser802fs)
|
|
|
NM_001089.3(ABCA3):c.2429_2430del (p.Phe810fs)
|
|
|
NM_001089.3(ABCA3):c.4483_4507del (p.Val1495fs)
|
|
|
NM_001089.3(ABCA3):c.4776del (p.Phe1592fs)
|
|
|
NM_001098671.2(RASGRP2):c.1490del (p.Phe497fs)
|
rs752492512
|
|
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser)
|
rs398122394
|
|
NM_001100.4(ACTA1):c.686T>C (p.Met229Thr)
|
|
|
NM_001105247.2(ARMC5):c.1090C>T (p.Arg364Ter)
|
|
|
NM_001105247.2(ARMC5):c.327dup (p.Ala110fs)
|
|
|
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs)
|
rs63749748
|
|
NM_001110792.2(MECP2):c.414-2A>C
|
rs267608464
|
|
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)
|
rs61748421
|
|
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg)
|
rs61749715
|
|
NM_001110792.2(MECP2):c.820C>T (p.Gln274Ter)
|
rs267608525
|
|
NM_001110792.2(MECP2):c.844del (p.Arg282fs)
|
rs62931162
|
|
NM_001110792.2(MECP2):c.938del (p.Leu313fs)
|
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
NM_001111.5(ADAR):c.1600C>T (p.Arg534Ter)
|
|
|
NM_001111067.4(ACVR1):c.617G>A (p.Arg206His)
|
rs121912678
|
|
NM_001114753.3(ENG):c.1088G>A (p.Cys363Tyr)
|
|
|
NM_001114753.3(ENG):c.1169G>A (p.Trp390Ter)
|
rs1564453619
|
|
NM_001114753.3(ENG):c.1522C>T (p.Gln508Ter)
|
|
|
NM_001114753.3(ENG):c.447G>C (p.Trp149Cys)
|
rs878853657
|
|
NM_001114753.3(ENG):c.787_789del (p.Ile263del)
|
rs1830579035
|
|
NM_001122630.2(CDKN1C):c.661C>T (p.Gln221Ter)
|
rs797045445
|
|
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs)
|
rs1064794262
|
|
NM_001127222.2(CACNA1A):c.3411del (p.Lys1138fs)
|
rs746790849
|
|
NM_001127222.2(CACNA1A):c.5529-1231C>T
|
rs1296262946
|
|
NM_001127392.3(MYRF):c.1208A>T (p.Gln403Leu)
|
|
|
NM_001127392.3(MYRF):c.492_493del (p.Glu164fs)
|
|
|
NM_001127898.4(CLCN5):c.2320C>T (p.Arg774Ter)
|
rs151340624
|
|
NM_001127898.4(CLCN5):c.310C>T (p.Arg104Ter)
|
rs797044808
|
|
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu)
|
rs151340626
|
|
NM_001128178.3(NPHP1):c.1084-1G>T
|
rs1458494785
|
|
NM_001128178.3(NPHP1):c.1551del (p.Ile517fs)
|
rs1017750255
|
|
NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp)
|
rs1131691643
|
|
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del)
|
rs587784438
|
|
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])
|
rs587784440
|
|
NM_001130987.2(DYSF):c.110_111del (p.Lys37fs)
|
rs398123764
|
|
NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs)
|
rs398123797
|
|
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu)
|
rs267607003
|
|
NM_001142800.2(EYS):c.1505_1506insGA (p.Phe502fs)
|
|
|
NM_001142800.2(EYS):c.4955C>A (p.Ser1652Ter)
|
rs909730457
|
|
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs)
|
rs769824975
|
|
NM_001142966.3(GREB1L):c.1907_1910dup (p.Pro638fs)
|
|
|
NM_001159773.2(CANT1):c.902_906dup (p.Ser303fs)
|
rs587776895
|
|
NM_001160372.4(TRAPPC9):c.274_280del (p.Trp92fs)
|
rs1554689964
|
|
NM_001161748.2(LIM2):c.388C>T (p.Arg130Cys)
|
rs1568480054
|
|
NM_001164277.2(SLC37A4):c.1035dup (p.Ile346fs)
|
|
|
NM_001164508.2(NEB):c.11886del (p.Ser3963fs)
|
|
|
NM_001164508.2(NEB):c.13147C>T (p.Gln4383Ter)
|
rs1212374733
|
|
NM_001164508.2(NEB):c.24410del (p.Asn8137fs)
|
|
|
NM_001164508.2(NEB):c.7523_7526del (p.Ile2508fs)
|
rs878854368
|
|
NM_001164688.2(RD3):c.112C>T (p.Arg38Ter)
|
rs786205148
|
|
NM_001165963.4(SCN1A):c.1047T>G (p.Tyr349Ter)
|
rs1369404945
|
|
NM_001165963.4(SCN1A):c.1048_1049del (p.Met350fs)
|
|
|
NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter)
|
rs794726736
|
|
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter)
|
rs794726730
|
|
NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys)
|
rs121918788
|
|
NM_001167.4(XIAP):c.1009G>T (p.Glu337Ter)
|
|
|
NM_001170629.2(CHD8):c.1690C>T (p.Arg564Ter)
|
rs1057524677
|
|
NM_001170629.2(CHD8):c.4414C>T (p.Arg1472Ter)
|
rs991738444
|
|
NM_001170629.2(CHD8):c.4984C>T (p.Arg1662Ter)
|
rs1555313934
|
|
NM_001170629.2(CHD8):c.5179G>T (p.Glu1727Ter)
|
|
|
NM_001171.6(ABCC6):c.196dup (p.Ser66fs)
|
rs1064793538
|
|
NM_001171.6(ABCC6):c.1999del (p.Ala667fs)
|
rs72664227
|
|
NM_001171.6(ABCC6):c.3341G>C (p.Arg1114Pro)
|
rs63750427
|
|
NM_001171.6(ABCC6):c.982_988delinsTTCCCC (p.Val328fs)
|
|
|
NM_001171.6(ABCC6):c.998+2_998+3del
|
rs72664204
|
|
NM_001172509.2(SATB2):c.1842del (p.Lys614fs)
|
|
|
NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter)
|
rs797044874
|
|
NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp)
|
rs121912585
|
|
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)
|
rs201108965
|
|
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)
|
rs11230683
|
|
NM_001174089.2(SLC4A11):c.2140C>T (p.Arg714Ter)
|
rs772409032
|
|
NM_001174147.2(LMX1B):c.221C>A (p.Ser74Ter)
|
|
|
NM_001174147.2(LMX1B):c.232G>T (p.Glu78Ter)
|
|
|
NM_001174147.2(LMX1B):c.340A>T (p.Lys114Ter)
|
|
|
NM_001174147.2(LMX1B):c.597_598dup (p.Lys200fs)
|
|
|
NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln)
|
rs1191455921
|
|
NM_001177316.2(SLC34A3):c.1561dup (p.Leu521fs)
|
rs765816079
|
|
NM_001194998.2(CEP152):c.3172del (p.Gln1058fs)
|
|
|
NM_001195129.2(PRSS56):c.1066dup (p.Gln356fs)
|
rs730882064
|
|
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs)
|
rs397516633
|
|
NM_001197104.2(KMT2A):c.11001dup (p.Pro3668fs)
|
rs1591292118
|
|
NM_001197104.2(KMT2A):c.152_186del (p.Pro51fs)
|
rs2134153013
|
|
NM_001204.7(BMPR2):c.1471C>T (p.Arg491Trp)
|
rs137852746
|
|
NM_001204.7(BMPR2):c.156_157del (p.Ser52_His53insTer)
|
rs1085307169
|
|
NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter)
|
rs1085307154
|
|
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg)
|
rs886039323
|
|
NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs)
|
rs763941231
|
|
NM_001242882.2(NAXD):c.54_57del (p.Ala20fs)
|
rs773887880
|
|
NM_001244008.2(KIF1A):c.296C>T (p.Thr99Met)
|
rs387906799
|
|
NM_001244008.2(KIF1A):c.920G>A (p.Arg307Gln)
|
rs1064793161
|
|
NM_001256789.3(CACNA1F):c.273G>A (p.Trp91Ter)
|
|
|
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs)
|
rs80359870
|
|
NM_001257180.2(SLC20A2):c.344C>T (p.Thr115Met)
|
|
|
NM_001257180.2(SLC20A2):c.509del (p.Ile169_Leu170insTer)
|
rs398122395
|
|
NM_001257180.2(SLC20A2):c.82G>A (p.Asp28Asn)
|
rs1554561099
|
|
NM_001257180.2(SLC20A2):c.852del (p.Ile285fs)
|
|
|
NM_001267550.2(TTN):c.107889del (p.Lys35963fs)
|
rs281864930
|
|
NM_001267550.2(TTN):c.38442dup (p.Pro12815fs)
|
rs752101551
|
|
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer)
|
rs727504856
|
|
NM_001271.4(CHD2):c.4771_4772del (p.Leu1591fs)
|
rs1555445685
|
|
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter)
|
rs864309547
|
|
NM_001277115.2(DNAH11):c.10955dup (p.Asp3652fs)
|
|
|
NM_001277115.2(DNAH11):c.13165_13168dup (p.Met4390fs)
|
rs766922403
|
|
NM_001277115.2(DNAH11):c.2170-1G>A
|
|
|
NM_001277115.2(DNAH11):c.4395_4398del (p.Ser1465fs)
|
rs761764078
|
|
NM_001277115.2(DNAH11):c.5924+1G>C
|
rs886039340
|
|
NM_001278116.2(L1CAM):c.1704-1G>A
|
rs1557091678
|
|
NM_001278116.2(L1CAM):c.2219G>A (p.Trp740Ter)
|
|
|
NM_001278116.2(L1CAM):c.991+1G>A
|
|
|
NM_001282225.2(ADA2):c.139G>C (p.Gly47Arg)
|
rs202134424
|
|
NM_001282531.3(ADNP):c.1239_1240del (p.Gln414fs)
|
rs1981021559
|
|
NM_001282531.3(ADNP):c.2189del (p.Arg730fs)
|
|
|
NM_001287.6(CLCN7):c.643G>A (p.Gly215Arg)
|
rs397515539
|
|
NM_001288705.3(CSF1R):c.2330G>A (p.Arg777Gln)
|
rs690016548
|
|
NM_001288705.3(CSF1R):c.2381T>C (p.Ile794Thr)
|
rs281860274
|
|
NM_001289104.2(PRKCSH):c.374_375del (p.Glu125fs)
|
rs779685748
|
|
NM_001291415.2(KDM6A):c.1083_1084del (p.Leu361_Tyr362insTer)
|
|
|
NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter)
|
rs1479104927
|
|
NM_001292063.2(OTOG):c.7353dup (p.Ala2452fs)
|
rs1157646266
|
|
NM_001303052.2(MYT1L):c.503del (p.Asn168fs)
|
|
|
NM_001303256.3(MORC2):c.1181A>G (p.Tyr394Cys)
|
rs1555938796
|
|
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys)
|
rs1064795559
|
|
NM_001303256.3(MORC2):c.79G>A (p.Glu27Lys)
|
rs1602510200
|
|
NM_001320.7(CSNK2B):c.139C>T (p.Arg47Ter)
|
rs1085307703
|
|
NM_001321075.3(DLG4):c.925C>T (p.Arg309Ter)
|
rs1182894684
|
|
NM_001321120.2(TBX4):c.702+1G>A
|
rs1555883342
|
|
NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter)
|
rs62653623
|
|
NM_001323289.2(CDKL5):c.2469del (p.Glu824fs)
|
rs587783124
|
|
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg)
|
rs267608468
|
|
NM_001323289.2(CDKL5):c.506_507del (p.Thr169fs)
|
rs786204987
|
|
NM_001329943.3(KIAA0586):c.1000C>T (p.Gln334Ter)
|
rs796052128
|
|
NM_001329943.3(KIAA0586):c.1909del (p.Ile637fs)
|
|
|
NM_001347721.2(DYRK1A):c.1213-2A>G
|
rs1601315812
|
|
NM_001348768.2(HECW2):c.3572G>A (p.Arg1191Gln)
|
rs878854416
|
|
NM_001348768.2(HECW2):c.3988C>T (p.Arg1330Trp)
|
rs878854417
|
|
NM_001349338.3(FOXP1):c.1241del (p.Leu414fs)
|
|
|
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys)
|
rs869025203
|
|
NM_001353345.2(SETD1B):c.3100del (p.Glu1034fs)
|
|
|
NM_001354712.2(THRB):c.1358dup (p.Leu454fs)
|
rs1553609119
|
|
NM_001354712.2(THRB):c.958C>T (p.Arg320Cys)
|
rs121918696
|
|
NM_001355436.2(SPTB):c.1305_1306del (p.Glu435fs)
|
|
|
NM_001355436.2(SPTB):c.1782dup (p.Thr595fs)
|
|
|
NM_001355436.2(SPTB):c.1825C>T (p.Gln609Ter)
|
|
|
NM_001355436.2(SPTB):c.208C>T (p.Arg70Ter)
|
rs1566775577
|
|
NM_001355436.2(SPTB):c.3590del (p.Pro1197fs)
|
|
|
NM_001355436.2(SPTB):c.4873C>T (p.Arg1625Ter)
|
rs2139511447
|
|
NM_001355436.2(SPTB):c.5853_5854del (p.Glu1951fs)
|
|
|
NM_001356.5(DDX3X):c.3G>A (p.Met1Ile)
|
|
|
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter)
|
rs1555953488
|
|
NM_001358530.2(MOCS1):c.253C>T (p.Gln85Ter)
|
rs1768262580
|
|
NM_001360.3(DHCR7):c.1228G>C (p.Gly410Arg)
|
rs80338862
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001360.3(DHCR7):c.964-1G>T
|
rs138659167
|
|
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs)
|
rs530719719
|
|
NM_001363711.2(DUOX2):c.618dup (p.Pro207fs)
|
|
|
NM_001365902.3(NFIX):c.1087dup (p.Arg363fs)
|
rs886041647
|
|
NM_001365902.3(NFIX):c.346C>T (p.Arg116Trp)
|
rs1555696603
|
|
NM_001368067.1(LDB3):c.494C>T (p.Ala165Val)
|
rs121908334
|
|
NM_001368894.2(PAX6):c.-129+1G>A
|
rs1565277245
|
|
NM_001368894.2(PAX6):c.399+1G>A
|
rs398123295
|
|
NM_001368894.2(PAX6):c.609del (p.Ile204fs)
|
|
|
NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp)
|
rs757259413
|
|
NM_001369.3(DNAH5):c.11536C>T (p.Gln3846Ter)
|
rs1443845070
|
|
NM_001369.3(DNAH5):c.1627C>T (p.Gln543Ter)
|
rs2151977668
|
|
NM_001369.3(DNAH5):c.3549_3550del (p.Asn1184fs)
|
|
|
NM_001369.3(DNAH5):c.3589_3590del (p.Leu1197fs)
|
rs1561477725
|
|
NM_001369.3(DNAH5):c.552del (p.Glu185fs)
|
|
|
NM_001369.3(DNAH5):c.7914dup (p.Arg2639fs)
|
rs749082955
|
|
NM_001370259.2(MEN1):c.202_206dup (p.Asp70fs)
|
rs730882136
|
|
NM_001370658.1(BTD):c.1399del (p.Trp467fs)
|
rs397514423
|
|
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr)
|
rs397514357
|
|
NM_001371623.1(TCOF1):c.1639_1640del (p.Ser547fs)
|
rs587776583
|
|
NM_001371623.1(TCOF1):c.2860-1G>A
|
|
|
NM_001371928.1(AHDC1):c.2318del (p.Gly773fs)
|
|
|
NM_001372.4(DNAH9):c.308del (p.Phe103fs)
|
rs769795916
|
|
NM_001372044.2(SHANK3):c.5197C>T (p.Arg1733Ter)
|
rs2083361357
|
|
NM_001372076.1(PAX9):c.139del (p.Arg47fs)
|
|
|
NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser)
|
rs397507473
|
|
NM_001374353.1(GLI2):c.1370G>A (p.Trp457Ter)
|
rs1553476382
|
|
NM_001374353.1(GLI2):c.798_804del (p.Ser266fs)
|
|
|
NM_001374385.1(ATP8B1):c.1660G>A (p.Asp554Asn)
|
rs121909101
|
|
NM_001374385.1(ATP8B1):c.2788C>T (p.Arg930Ter)
|
|
|
NM_001374828.1(ARID1B):c.1293_1314del (p.Gly434fs)
|
rs1778945620
|
|
NM_001374828.1(ARID1B):c.2003del (p.Gly668fs)
|
|
|
NM_001374828.1(ARID1B):c.4131_4138del (p.Met1377fs)
|
|
|
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)
|
rs797045277
|
|
NM_001376013.1(EPB41):c.1411C>T (p.Arg471Ter)
|
|
|
NM_001377.3(DYNC2H1):c.10900C>T (p.Pro3634Ser)
|
rs769053227
|
|
NM_001377.3(DYNC2H1):c.11725+2T>C
|
|
|
NM_001377.3(DYNC2H1):c.1657_1660del (p.Leu553fs)
|
rs748906528
|
|
NM_001377.3(DYNC2H1):c.8312-2A>G
|
|
|
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu)
|
rs63751273
|
|
NM_001377265.1(MAPT):c.2091+16C>T
|
rs63751011
|
|
NM_001378418.1(TCF20):c.853G>T (p.Gly285Ter)
|
|
|
NM_001378454.1(ALMS1):c.10530_10531insGTCTTTCCAAGATTGGAAT (p.Trp3511fs)
|
|
|
NM_001378454.1(ALMS1):c.11098C>T (p.His3700Tyr)
|
|
|
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs)
|
rs761292021
|
|
NM_001378454.1(ALMS1):c.7393G>T (p.Val2465Leu)
|
|
|
NM_001378477.3(NYX):c.23-1_23delinsTT
|
rs1555967031
|
|
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter)
|
rs764719093
|
|
NM_001378743.1(CYLD):c.2263C>T (p.Gln755Ter)
|
|
|
NM_001379403.1(WDR26):c.1204C>T (p.Gln402Ter)
|
|
|
NM_001379500.1(COL18A1):c.2928dup (p.Gly977fs)
|
|
|
NM_001382391.1(CSPP1):c.2723del (p.Asn908fs)
|
rs863225190
|
|
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter)
|
rs1057517251
|
|
NM_001384359.1(FUT1):c.881_882del (p.Phe294fs)
|
|
|
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs)
|
rs777686211
|
|
NM_001384732.1(CPLANE1):c.2275C>T (p.Gln759Ter)
|
rs863225158
|
|
NM_001384732.1(CPLANE1):c.2709G>A (p.Trp903Ter)
|
rs863225164
|
|
NM_001384732.1(CPLANE1):c.3130_3131insA (p.Arg1044fs)
|
rs863225161
|
|
NM_001384732.1(CPLANE1):c.7243dup (p.Thr2415fs)
|
|
|
NM_001386140.1(MTTP):c.419dup (p.Asn140fs)
|
rs762901763
|
|
NM_001386393.1(PANK2):c.104C>A (p.Ser35Ter)
|
|
|
NM_001399.5(EDA):c.572_589del (p.188_190PGP[1])
|
rs397516668
|
|
NM_001399.5(EDA):c.599dup (p.Gly201fs)
|
rs1556098570
|
|
NM_001399.5(EDA):c.730C>T (p.Arg244Ter)
|
rs397516672
|
|
NM_001429.3(EP300):c.3857A>G
|
rs1555910821
|
|
NM_001429.4(EP300):c.3476_3501+41del
|
|
|
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val)
|
rs1057517732
|
|
NM_001429.4(EP300):c.478C>T (p.Gln160Ter)
|
|
|
NM_001451.3(FOXF1):c.310G>T (p.Glu104Ter)
|
|
|
NM_001453.3(FOXC1):c.380G>A (p.Arg127His)
|
rs1085307884
|
|
NM_001481.3(GAS8):c.1069C>T (p.Gln357Ter)
|
rs566755911
|
|
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu)
|
rs557327165
|
|
NM_001556.3(IKBKB):c.1292dup (p.Gln432fs)
|
rs886041036
|
|
NM_001613.4(ACTA2):c.536G>A (p.Arg179His)
|
rs387906592
|
|
NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln)
|
rs397516685
|
|
NM_001615.4(ACTG2):c.118C>T (p.Arg40Cys)
|
rs587777385
|
|
NM_001615.4(ACTG2):c.532C>T (p.Arg178Cys)
|
rs78001248
|
|
NM_001692.4(ATP6V1B1):c.1155dup (p.Ile386fs)
|
rs781969081
|
|
NM_001692.4(ATP6V1B1):c.175-1G>C
|
rs1572919267
|
|
NM_001754.4(RUNX1):c.352-1G>T
|
rs587776809
|
|
NM_001754.5(RUNX1):c.1036del (p.Arg346fs)
|
|
|
NM_001754.5(RUNX1):c.184_187dup (p.Ala63fs)
|
|
|
NM_001754.5(RUNX1):c.240_241del (p.Glu80fs)
|
rs1569084388
|
|
NM_001754.5(RUNX1):c.292del (p.Leu98fs)
|
rs1569084170
|
|
NM_001754.5(RUNX1):c.328A>G (p.Lys110Glu)
|
rs121912498
|
|
NM_001754.5(RUNX1):c.330G>C (p.Lys110Asn)
|
rs1569084082
|
|
NM_001754.5(RUNX1):c.351+1G>A
|
rs1060502579
|
|
NM_001754.5(RUNX1):c.567C>G (p.Tyr189Ter)
|
rs1569061831
|
|
NM_001754.5(RUNX1):c.601C>T (p.Arg201Ter)
|
rs1057519748
|
|
NM_001754.5(RUNX1):c.602G>A (p.Arg201Gln)
|
rs74315450
|
|
NM_001754.5(RUNX1):c.610C>T (p.Arg204Ter)
|
rs1569061768
|
|
NM_001814.6(CTSC):c.203T>G (p.Leu68Arg)
|
rs199474831
|
|
NM_001844.5(COL2A1):c.1358G>T (p.Gly453Val)
|
|
|
NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter)
|
rs121912897
|
|
NM_001844.5(COL2A1):c.2813del (p.Pro938fs)
|
rs886039543
|
|
NM_001844.5(COL2A1):c.2818C>T (p.Arg940Ter)
|
rs1057524114
|
|
NM_001844.5(COL2A1):c.3427G>A (p.Gly1143Ser)
|
rs2136518157
|
|
NM_001844.5(COL2A1):c.3597+1G>C
|
rs1555164874
|
|
NM_001844.5(COL2A1):c.3624del (p.Gly1209fs)
|
rs1555164789
|
|
NM_001844.5(COL2A1):c.3864_3865del (p.Cys1289fs)
|
rs2136510866
|
|
NM_001844.5(COL2A1):c.3896G>A (p.Trp1299Ter)
|
rs2136508909
|
|
NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg)
|
rs1131691822
|
|
NM_001848.3(COL6A1):c.1022G>T (p.Gly341Val)
|
rs121912935
|
|
NM_001849.4(COL6A2):c.1770+1del
|
rs886044215
|
|
NM_001854.4(COL11A1):c.2862+2_2862+3del
|
|
|
NM_001904.4(CTNNB1):c.1097T>G (p.Leu366Ter)
|
|
|
NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter)
|
rs775104326
|
|
NM_001904.4(CTNNB1):c.865_869del (p.Thr289fs)
|
|
|
NM_001904.4(CTNNB1):c.998dup (p.Tyr333Ter)
|
rs886041281
|
|
NM_001942.4(DSG1):c.280C>T (p.Gln94Ter)
|
|
|
NM_001958.5(EEF1A2):c.208G>A (p.Gly70Ser)
|
rs587777162
|
|
NM_001972.4(ELANE):c.597+1G>A
|
rs1555710005
|
|
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)
|
rs61816761
|
|
NM_002087.4(GRN):c.1429_1430dup (p.Asp477fs)
|
|
|
NM_002087.4(GRN):c.347C>A (p.Ser116Ter)
|
|
|
NM_002225.5(IVD):c.149G>C (p.Arg50Pro)
|
rs2229311
|
|
NM_002225.5(IVD):c.340del (p.Glu114fs)
|
|
|
NM_002292.4(LAMB2):c.5182C>T (p.Gln1728Ter)
|
|
|
NM_002335.4(LRP5):c.1282C>T (p.Arg428Ter)
|
rs121908661
|
|
NM_002448.3(MSX1):c.623C>A (p.Ser208Ter)
|
rs104893853
|
|
NM_002465.4(MYBPC1):c.788T>G (p.Leu263Arg)
|
rs1565943228
|
|
NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp)
|
rs1184544985
|
|
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys)
|
rs80338829
|
|
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn)
|
rs80338831
|
|
NM_002480.3(PPP1R12A):c.2533C>T (p.Arg845Ter)
|
|
|
NM_002480.3(PPP1R12A):c.2629del (p.Ser877fs)
|
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_002576.5(PAK1):c.362C>T (p.Pro121Leu)
|
rs1949519149
|
|
NM_002585.4(PBX1):c.862C>T (p.Arg288Ter)
|
|
|
NM_002617.4(PEX10):c.4del (p.Ala2fs)
|
rs62636524
|
|
NM_002618.4(PEX13):c.676C>T (p.Arg226Ter)
|
|
|
NM_002641.4(PIGA):c.356G>A (p.Arg119Gln)
|
|
|
NM_002691.4(POLD1):c.1809CTC[1] (p.Ser605del)
|
rs398122386
|
|
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter)
|
rs387906692
|
|
NM_002734.5(PRKAR1A):c.46C>T (p.Arg16Ter)
|
rs886041228
|
|
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)
|
rs121908595
|
|
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr)
|
rs121918468
|
|
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala)
|
rs121918469
|
|
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu)
|
rs397507540
|
|
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr)
|
rs121918458
|
|
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)
|
rs397507545
|
|
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)
|
rs397507545
|
|
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)
|
rs397507547
|
|
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro)
|
rs397507548
|
|
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro)
|
rs121918470
|
|
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His)
|
rs397507550
|
|
NM_002834.5(PTPN11):c.1530G>T (p.Gln510His)
|
|
|
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)
|
rs397507505
|
|
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser)
|
rs397507507
|
|
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn)
|
rs397507510
|
|
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)
|
rs121918461
|
|
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)
|
rs121918460
|
|
NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu)
|
rs397507512
|
|
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.836A>G (p.Tyr279Cys)
|
rs121918456
|
|
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu)
|
rs397507531
|
|
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser)
|
rs121918463
|
|
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr)
|
rs121918455
|
|
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)
|
rs121918455
|
|
NM_002860.4(ALDH18A1):c.413G>A (p.Arg138Gln)
|
rs863225045
|
|
NM_002863.5(PYGL):c.1964_1969+4delinsGAAAAA
|
|
|
NM_002878.4(RAD51D):c.340dup (p.Thr114fs)
|
|
|
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val)
|
rs80338797
|
|
NM_002880.4(RAF1):c.781C>G (p.Pro261Ala)
|
rs121434594
|
|
NM_002890.3(RASA1):c.1659C>A (p.Tyr553Ter)
|
rs747745016
|
|
NM_002890.3(RASA1):c.2450_2451del (p.Ser817fs)
|
rs886041400
|
|
NM_002890.3(RASA1):c.577dup (p.Glu193fs)
|
|
|
NM_002890.3(RASA1):c.853C>T (p.Arg285Ter)
|
rs137853218
|
|
NM_002948.5(RPL15):c.242dup (p.Tyr81Ter)
|
|
|
NM_002968.3(SALL1):c.874C>T (p.Gln292Ter)
|
|
|
NM_003000.3(SDHB):c.287-2A>G
|
rs1064794270
|
|
NM_003000.3(SDHB):c.311delinsGG (p.Asn104fs)
|
rs786201316
|
|
NM_003000.3(SDHB):c.724C>T (p.Arg242Cys)
|
rs786203251
|
|
NM_003042.4(SLC6A1):c.1070C>T (p.Ala357Val)
|
rs1553689859
|
|
NM_003042.4(SLC6A1):c.419A>G (p.Tyr140Cys)
|
rs1697264007
|
|
NM_003072.5(SMARCA4):c.1141C>T (p.Arg381Ter)
|
rs972341316
|
|
NM_003091.4(SNRPB):c.155+301G>C
|
rs786201019
|
|
NM_003106.4(SOX2):c.70_89del (p.Asn24fs)
|
rs398123693
|
|
NM_003119.4(SPG7):c.1053dup (p.Gly352fs)
|
rs760818649
|
|
NM_003119.4(SPG7):c.773_774del (p.Val258fs)
|
rs768136171
|
|
NM_003126.4(SPTA1):c.2319C>A (p.Cys773Ter)
|
|
|
NM_003126.4(SPTA1):c.4339-99C>T
|
rs200830867
|
|
NM_003140.3(SRY):c.294G>A (p.Trp98Ter)
|
|
|
NM_003172.4(SURF1):c.281dup (p.Leu94fs)
|
rs1588691786
|
|
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer)
|
rs863224228
|
|
NM_003172.4(SURF1):c.845_846del (p.Ser282fs)
|
rs782316919
|
|
NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp)
|
rs863223792
|
|
NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys)
|
rs104893810
|
|
NM_003289.4(TPM2):c.397C>T (p.Arg133Trp)
|
rs137853305
|
|
NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del)
|
rs199476153
|
|
NM_003334.4(UBA1):c.121A>G (p.Met41Val)
|
rs1936307795
|
|
NM_003334.4(UBA1):c.122T>C (p.Met41Thr)
|
rs782416867
|
|
NM_003361.4(UMOD):c.553C>A (p.Arg185Ser)
|
|
|
NM_003361.4(UMOD):c.707C>T (p.Pro236Leu)
|
rs1447458978
|
|
NM_003361.4(UMOD):c.744C>G (p.Cys248Trp)
|
rs886043751
|
|
NM_003482.4(KMT2D):c.11435_11457del (p.Gln3812fs)
|
|
|
NM_003482.4(KMT2D):c.12760C>T (p.Gln4254Ter)
|
|
|
NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter)
|
rs1057517992
|
|
NM_003482.4(KMT2D):c.13390C>T (p.Gln4464Ter)
|
|
|
NM_003482.4(KMT2D):c.14878C>T (p.Arg4960Ter)
|
rs1555185969
|
|
NM_003482.4(KMT2D):c.15143G>A (p.Arg5048His)
|
rs886041404
|
|
NM_003482.4(KMT2D):c.15461G>A (p.Arg5154Gln)
|
rs886043497
|
|
NM_003482.4(KMT2D):c.16294C>T (p.Arg5432Trp)
|
rs1565753611
|
|
NM_003482.4(KMT2D):c.1782_1783dup (p.Glu595fs)
|
|
|
NM_003482.4(KMT2D):c.5269C>T (p.Arg1757Ter)
|
rs1555194045
|
|
NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter)
|
rs1452715535
|
|
NM_003482.4(KMT2D):c.7594del (p.Ser2532fs)
|
|
|
NM_003482.4(KMT2D):c.7933C>T (p.Arg2645Ter)
|
rs1555191740
|
|
NM_003482.4(KMT2D):c.8549_8558delinsAA (p.Leu2850fs)
|
|
|
NM_003482.4(KMT2D):c.9265del (p.Val3089fs)
|
|
|
NM_003482.4(KMT2D):c.9322G>T (p.Glu3108Ter)
|
|
|
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
|
|
|
NM_003590.5(CUL3):c.1351G>T (p.Glu451Ter)
|
|
|
NM_003590.5(CUL3):c.590_593del (p.Gly197fs)
|
|
|
NM_003611.3(OFD1):c.1268_1272del (p.Gln423fs)
|
|
|
NM_003718.5(CDK13):c.2201A>G (p.Lys734Arg)
|
rs1784692399
|
|
NM_003722.5(TP63):c.1727T>C (p.Ile576Thr)
|
rs1057517841
|
|
NM_003722.5(TP63):c.952C>T (p.Arg318Cys)
|
rs1205536026
|
|
NM_003742.4(ABCB11):c.1409G>A (p.Arg470Gln)
|
rs1463057954
|
|
NM_003742.4(ABCB11):c.2343+1G>T
|
rs774411820
|
|
NM_003742.4(ABCB11):c.3379G>T (p.Glu1127Ter)
|
|
|
NM_003742.4(ABCB11):c.908+1G>C
|
rs147649016
|
|
NM_003907.3(EIF2B5):c.407G>A (p.Arg136His)
|
rs958193703
|
|
NM_003924.4(PHOX2B):c.671_729del (p.Pro224fs)
|
|
|
NM_003924.4(PHOX2B):c.684dup (p.Pro229fs)
|
|
|
NM_003924.4(PHOX2B):c.722_759del (p.Ala241fs)
|
rs1733878065
|
|
NM_003924.4(PHOX2B):c.765_779dup (p.Ala256_Ala260dup)
|
rs761018157
|
|
NM_003978.5(PSTPIP1):c.688G>A (p.Ala230Thr)
|
rs121908130
|
|
NM_003995.4(NPR2):c.1436+1G>T
|
|
|
NM_004004.6(GJB2):c.235del (p.Leu79fs)
|
rs80338943
|
|
NM_004004.6(GJB2):c.250G>A (p.Val84Met)
|
rs104894409
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.575_576del (p.Thr192fs)
|
rs1057517521
|
|
NM_004004.6(GJB2):c.632_633del (p.Cys211fs)
|
rs587783646
|
|
NM_004004.6(GJB2):c.95G>A (p.Arg32His)
|
rs111033190
|
|
NM_004006.3(DMD):c.2293-2A>G
|
rs2148691779
|
|
NM_004006.3(DMD):c.3651dup (p.Thr1218fs)
|
|
|
NM_004006.3(DMD):c.8608C>T (p.Arg2870Ter)
|
rs398124074
|
|
NM_004069.6(AP2S1):c.44G>T (p.Arg15Leu)
|
rs397514499
|
|
NM_004100.5(EYA4):c.1241_1248del (p.Phe414fs)
|
|
|
NM_004113.6(FGF12):c.148G>A (p.Gly50Ser)
|
rs1553798675
|
|
NM_004168.4(SDHA):c.1526_1527delinsGA (p.Ser509Ter)
|
rs1064793567
|
|
NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer)
|
rs1553997617
|
|
NM_004168.4(SDHA):c.464del (p.Asn155fs)
|
|
|
NM_004183.4(BEST1):c.240C>A (p.Phe80Leu)
|
rs281865221
|
|
NM_004183.4(BEST1):c.971_975del (p.Glu324fs)
|
|
|
NM_004239.4(TRIP11):c.757C>T (p.Arg253Ter)
|
|
|
NM_004260.4(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs)
|
rs1060501383
|
|
NM_004281.4(BAG3):c.625C>T (p.Pro209Ser)
|
rs1589630141
|
|
NM_004312.3(ARR3):c.214C>T (p.Arg72Ter)
|
rs2147641058
|
|
NM_004320.6(ATP2A1):c.1742_1743del (p.Ser581fs)
|
rs1421005631
|
|
NM_004320.6(ATP2A1):c.2464dup (p.Arg822fs)
|
rs751365374
|
|
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe)
|
rs180177036
|
|
NM_004333.6(BRAF):c.1741A>C (p.Asn581His)
|
rs180177040
|
|
NM_004333.6(BRAF):c.722C>T (p.Thr241Met)
|
rs387906660
|
|
NM_004360.5(CDH1):c.1541_1565delinsTGTAGT (p.Asp514_Thr522delinsValTer)
|
|
|
NM_004360.5(CDH1):c.1849_1856del (p.Ala617fs)
|
rs2152138436
|
|
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer)
|
rs587781276
|
|
NM_004369.4(COL6A3):c.7669-2del
|
rs764193290
|
|
NM_004380.3(CREBBP):c.1824-1G>T
|
|
|
NM_004380.3(CREBBP):c.223C>T (p.Arg75Ter)
|
rs2141496166
|
|
NM_004380.3(CREBBP):c.3779+1G>T
|
rs587783483
|
|
NM_004380.3(CREBBP):c.4890+2T>C
|
rs786205495
|
|
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del)
|
rs587783502
|
|
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val)
|
rs797045037
|
|
NM_004415.4(DSP):c.747C>A (p.Tyr249Ter)
|
|
|
NM_004444.5(EPHB4):c.924C>G (p.Tyr308Ter)
|
|
|
NM_004453.4(ETFDH):c.1690+2T>G
|
|
|
NM_004456.5(EZH2):c.2233G>A (p.Glu745Lys)
|
rs397515548
|
|
NM_004463.3(FGD1):c.482-2A>G
|
|
|
NM_004463.3(FGD1):c.527dup (p.Leu177fs)
|
rs756586058
|
|
NM_004539.4(NARS1):c.251_252del (p.Glu84fs)
|
|
|
NM_004586.3(RPS6KA3):c.1540C>T (p.Arg514Ter)
|
|
|
NM_004621.6(TRPC6):c.2684G>T (p.Arg895Leu)
|
rs1591517912
|
|
NM_004621.6(TRPC6):c.523C>T (p.Arg175Trp)
|
rs869025541
|
|
NM_004628.5(XPC):c.1643_1644del (p.Val548fs)
|
rs754532049
|
|
NM_004628.5(XPC):c.2421-25_2604+301del
|
|
|
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs)
|
rs397507560
|
|
NM_004629.2(FANCG):c.922G>T (p.Glu308Ter)
|
|
|
NM_004646.4(NPHS1):c.619del (p.Arg207fs)
|
rs778217926
|
|
NM_004646.4(NPHS1):c.904del (p.Leu302fs)
|
|
|
NM_004656.4(BAP1):c.665_666del (p.Pro222fs)
|
|
|
NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter)
|
rs730882249
|
|
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro)
|
rs140451304
|
|
NM_004937.3(CTNS):c.18_21del (p.Thr7fs)
|
rs786204501
|
|
NM_004944.4(DNASE1L3):c.290_291del (p.Thr97fs)
|
rs751206379
|
|
NM_004959.5(NR5A1):c.251G>A (p.Arg84His)
|
rs375469069
|
|
NM_004959.5(NR5A1):c.86C>G (p.Thr29Arg)
|
|
|
NM_004959.5(NR5A1):c.871-1G>C
|
|
|
NM_004960.4(FUS):c.1561C>G (p.Arg521Gly)
|
rs121909668
|
|
NM_004960.4(FUS):c.1574C>T (p.Pro525Leu)
|
rs886041390
|
|
NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln)
|
rs387907287
|
|
NM_004985.5(KRAS):c.108A>G (p.Ile36Met)
|
rs727503109
|
|
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu)
|
rs193929331
|
|
NM_004999.4(MYO6):c.1983+1G>A
|
rs2149321922
|
|
NM_004999.4(MYO6):c.613C>T (p.Arg205Ter)
|
|
|
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)
|
rs587776934
|
|
NM_005055.5(RAPSN):c.1116GAA[1] (p.Lys373del)
|
rs759488854
|
|
NM_005149.3(TBX19):c.782del (p.Asn261fs)
|
rs730880274
|
|
NM_005208.5(CRYBA1):c.215+1G>C
|
rs1264025914
|
|
NM_005214.5(CTLA4):c.457+1G>A
|
|
|
NM_005220.3(DLX3):c.571_574del (p.Gly191fs)
|
rs387906405
|
|
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp)
|
rs147105770
|
|
NM_005249.5(FOXG1):c.460G>T (p.Glu154Ter)
|
rs1057520780
|
|
NM_005249.5(FOXG1):c.460dup (p.Glu154fs)
|
rs398124204
|
|
NM_005251.3(FOXC2):c.943C>T (p.Gln315Ter)
|
|
|
NM_005257.6(GATA6):c.1498_1501del (p.Lys500fs)
|
|
|
NM_005267.5(GJA8):c.290T>G (p.Val97Gly)
|
|
|
NM_005321.3(H1-4):c.445_446del (p.Lys149fs)
|
|
|
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)
|
rs104894229
|
|
NM_005343.4(HRAS):c.35G>T (p.Gly12Val)
|
rs104894230
|
|
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)
|
rs104894228
|
|
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp)
|
rs104894226
|
|
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys)
|
rs80338963
|
|
NM_005373.3(MPL):c.317C>T (p.Pro106Leu)
|
rs750046020
|
|
NM_005445.4(SMC3):c.778C>T (p.Gln260Ter)
|
|
|
NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr)
|
rs922847767
|
|
NM_005461.5(MAFB):c.188C>T (p.Pro63Leu)
|
|
|
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp)
|
rs587776935
|
|
NM_005476.7(GNE):c.2086G>A (p.Val696Met)
|
rs121908627
|
|
NM_005570.4(LMAN1):c.1356del (p.Asn452_Leu453insTer)
|
rs869312033
|
|
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro)
|
rs397517153
|
|
NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr)
|
rs397517154
|
|
NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe)
|
rs574088829
|
|
NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys)
|
rs397517159
|
|
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu)
|
rs397517172
|
|
NM_005664.4(MKRN3):c.482dup (p.Ala162fs)
|
rs763195944
|
|
NM_005802.5(TOPORS):c.2474dup (p.Tyr825Ter)
|
rs1587620953
|
|
NM_005859.5(PURA):c.26_35del (p.Glu9fs)
|
|
|
NM_005859.5(PURA):c.363C>G (p.Tyr121Ter)
|
rs587782996
|
|
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del)
|
rs786204835
|
|
NM_005909.5(MAP1B):c.907C>T (p.Arg303Ter)
|
rs1554054831
|
|
NM_005912.3(MC4R):c.343_344del (p.Gln115fs)
|
|
|
NM_005912.3(MC4R):c.631_634del (p.Leu211fs)
|
rs13447338
|
|
NM_005912.3(MC4R):c.835_836dup (p.Phe280fs)
|
rs193922687
|
|
NM_005921.2(MAP3K1):c.566T>C (p.Leu189Pro)
|
rs387906788
|
|
NM_005996.4(TBX3):c.1141G>T (p.Glu381Ter)
|
|
|
NM_006005.3(WFS1):c.1230_1233del (p.Val412fs)
|
rs760337383
|
|
NM_006005.3(WFS1):c.1243_1245del (p.Val415del)
|
rs863224265
|
|
NM_006005.3(WFS1):c.2033G>A (p.Trp678Ter)
|
|
|
NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn)
|
rs1553879004
|
|
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His)
|
rs587784491
|
|
NM_006015.6(ARID1A):c.3858_3859insT (p.Arg1287Ter)
|
|
|
NM_006015.6(ARID1A):c.5624dup (p.Pro1876fs)
|
|
|
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)
|
rs543698823
|
|
NM_006019.4(TCIRG1):c.1230del (p.Leu411fs)
|
rs2134454279
|
|
NM_006019.4(TCIRG1):c.692del (p.Lys231fs)
|
|
|
NM_006031.6(PCNT):c.8593_8594del (p.Arg2865fs)
|
|
|
NM_006086.4(TUBB3):c.1228G>A (p.Glu410Lys)
|
rs267607165
|
|
NM_006087.4(TUBB4A):c.467G>T (p.Arg156Leu)
|
rs587777429
|
|
NM_006121.4(KRT1):c.564C>A (p.Asn188Lys)
|
rs59429455
|
|
NM_006147.4(IRF6):c.250C>T (p.Arg84Cys)
|
rs121434226
|
|
NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys)
|
rs1064793732
|
|
NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr)
|
rs397514565
|
|
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)
|
rs121913273
|
|
NM_006269.2(RP1):c.1938_1941del (p.Ile646fs)
|
|
|
NM_006494.4(ERF):c.256C>T (p.Arg86Cys)
|
rs587777008
|
|
NM_006502.3(POLH):c.1222_1225del (p.Thr408fs)
|
|
|
NM_006642.5(SDCCAG8):c.1120C>T (p.Arg374Ter)
|
rs770084716
|
|
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter)
|
rs199469464
|
|
NM_006735.4(HOXA2):c.687_691del (p.Glu229fs)
|
|
|
NM_006766.5(KAT6A):c.3483_3484del (p.His1162fs)
|
|
|
NM_006767.4(LZTR1):c.1615+2T>C
|
|
|
NM_006767.4(LZTR1):c.2013_2014del (p.Leu672fs)
|
|
|
NM_006767.4(LZTR1):c.739del (p.Ser247fs)
|
|
|
NM_006767.4(LZTR1):c.890_891del (p.Tyr297fs)
|
rs767445373
|
|
NM_006772.3(SYNGAP1):c.3583-6G>A
|
rs869312674
|
|
NM_006772.3(SYNGAP1):c.828dup (p.Lys277fs)
|
rs2151168473
|
|
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly)
|
rs672601334
|
|
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu)
|
rs869025194
|
|
NM_006912.6(RIT1):c.245T>G (p.Phe82Cys)
|
rs868208063
|
|
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)
|
rs730881014
|
|
NM_006912.6(RIT1):c.265T>C (p.Tyr89His)
|
rs869025197
|
|
NM_006912.6(RIT1):c.270G>C (p.Met90Ile)
|
rs483352822
|
|
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala)
|
rs672601335
|
|
NM_006929.5(SKIC2):c.1612del (p.Ala538fs)
|
rs1353707093
|
|
NM_006929.5(SKIC2):c.950del (p.Gln317fs)
|
|
|
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)
|
|
|
NM_006941.4(SOX10):c.127C>T (p.Arg43Ter)
|
rs1555939523
|
|
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser)
|
rs61736587
|
|
NM_006950.3(SYN1):c.1663C>T (p.Gln555Ter)
|
rs397514679
|
|
NM_007059.4(KPTN):c.714_731dup (p.Met241_Gln246dup)
|
rs587777148
|
|
NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln)
|
rs879255626
|
|
NM_007118.4(TRIO):c.4292A>T (p.Lys1431Met)
|
rs1747351918
|
|
NM_007194.4(CHEK2):c.16del (p.Asp6fs)
|
rs2146156838
|
|
NM_007194.4(CHEK2):c.591del (p.Val198fs)
|
rs587782245
|
|
NM_007217.4(PDCD10):c.103C>T (p.Arg35Ter)
|
rs1057517786
|
|
NM_007217.4(PDCD10):c.150+1G>A
|
rs1553762839
|
|
NM_007217.4(PDCD10):c.322C>T (p.Arg108Ter)
|
rs1553760900
|
|
NM_007217.4(PDCD10):c.395+2T>G
|
rs1559952217
|
|
NM_007217.4(PDCD10):c.396-3C>G
|
rs1559945136
|
|
NM_007217.4(PDCD10):c.586C>T (p.Arg196Ter)
|
rs1404676956
|
|
NM_007254.4(PNKP):c.916_917del (p.Phe306fs)
|
rs2074784617
|
|
NM_007289.4(MME):c.1645G>T (p.Gly549Ter)
|
|
|
NM_007294.4(BRCA1):c.1387_1390delinsGAAAG (p.Lys463fs)
|
rs80357770
|
|
NM_007294.4(BRCA1):c.1551del (p.Phe517fs)
|
rs80357630
|
|
NM_007294.4(BRCA1):c.1881_1884del (p.Ser628fs)
|
rs80357567
|
|
NM_007294.4(BRCA1):c.1961del (p.Lys654fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.213-12A>G
|
rs80358163
|
|
NM_007294.4(BRCA1):c.2206del (p.Glu736fs)
|
rs80357860
|
|
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs)
|
rs80357664
|
|
NM_007294.4(BRCA1):c.2433del (p.Lys812fs)
|
rs80357524
|
|
NM_007294.4(BRCA1):c.2488_2504dup (p.His835fs)
|
rs483353078
|
|
NM_007294.4(BRCA1):c.2995_2996delinsTA (p.Leu999Ter)
|
rs273899692
|
|
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter)
|
rs62625307
|
|
NM_007294.4(BRCA1):c.3642_3643del (p.Asn1215fs)
|
rs80357805
|
|
NM_007294.4(BRCA1):c.3647T>A (p.Leu1216Ter)
|
rs397509091
|
|
NM_007294.4(BRCA1):c.4485-2A>G
|
rs80358054
|
|
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter)
|
rs80356885
|
|
NM_007294.4(BRCA1):c.4574_4575del (p.Gln1525fs)
|
rs80357813
|
|
NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg)
|
rs80357061
|
|
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile)
|
rs80357034
|
|
NM_007294.4(BRCA1):c.5080G>T (p.Glu1694Ter)
|
rs80356896
|
|
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu)
|
rs28897696
|
|
NM_007294.4(BRCA1):c.5152+1G>C
|
rs80358094
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)
|
rs80357914
|
|
NM_007315.4(STAT1):c.820C>T (p.Arg274Trp)
|
rs387906758
|
|
NM_007327.4(GRIN1):c.2443G>A (p.Gly815Arg)
|
rs797044925
|
|
NM_012062.5(DNM1L):c.1084G>A (p.Gly362Ser)
|
rs886037861
|
|
NM_012064.4(MIP):c.605G>A (p.Trp202Ter)
|
|
|
NM_012064.4(MIP):c.638del (p.Gly213fs)
|
rs398122378
|
|
NM_012330.4(KAT6B):c.3172C>T (p.Arg1058Ter)
|
rs1554843815
|
|
NM_012330.4(KAT6B):c.4066del (p.Glu1356fs)
|
|
|
NM_012452.3(TNFRSF13B):c.227_231del (p.Gly76fs)
|
rs1265262160
|
|
NM_012479.4(YWHAG):c.169C>T (p.Arg57Cys)
|
rs1583981736
|
|
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys)
|
rs1554616628
|
|
NM_013254.4(TBK1):c.1922AAG[2] (p.Glu643del)
|
rs1402092579
|
|
NM_013275.6(ANKRD11):c.2216C>A (p.Ser739Ter)
|
|
|
NM_013275.6(ANKRD11):c.3704_3707del (p.Lys1235fs)
|
rs1555528354
|
|
NM_013275.6(ANKRD11):c.3761del (p.Ser1254fs)
|
|
|
NM_013275.6(ANKRD11):c.4218C>A (p.Tyr1406Ter)
|
rs764501022
|
|
NM_013275.6(ANKRD11):c.4345_4346del (p.Gly1449fs)
|
|
|
NM_013275.6(ANKRD11):c.4964_4965del (p.Lys1655fs)
|
|
|
NM_013275.6(ANKRD11):c.6401_6422dup (p.Pro2142fs)
|
|
|
NM_013275.6(ANKRD11):c.7062dup (p.Ser2355fs)
|
rs886041942
|
|
NM_014009.4(FOXP3):c.1190G>A (p.Arg397Gln)
|
rs1057520529
|
|
NM_014023.4(WDR37):c.374C>T (p.Thr125Ile)
|
rs1554823375
|
|
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp)
|
rs1057523157
|
|
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu)
|
rs1555791268
|
|
NM_014239.4(EIF2B2):c.607del (p.Met203fs)
|
|
|
NM_014251.3(SLC25A13):c.1075C>T (p.Gln359Ter)
|
rs1794541339
|
|
NM_014251.3(SLC25A13):c.1453-1G>A
|
rs1792048079
|
|
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs)
|
rs80338720
|
|
NM_014252.4(SLC25A15):c.553TTC[3] (p.Phe188del)
|
rs202247803
|
|
NM_014270.5(SLC7A9):c.614dup (p.Asn206fs)
|
rs745319034
|
|
NM_014319.5(LEMD3):c.1323C>A (p.Tyr441Ter)
|
rs2136313585
|
|
NM_014495.4(ANGPTL3):c.363_367del (p.Asn121fs)
|
rs398122988
|
|
NM_014585.6(SLC40A1):c.1469G>A (p.Gly490Asp)
|
rs1060501102
|
|
NM_014585.6(SLC40A1):c.476TTG[3] (p.Val162del)
|
rs878854984
|
|
NM_014625.4(NPHS2):c.293_294del (p.Leu98fs)
|
|
|
NM_014625.4(NPHS2):c.419del (p.Gly140fs)
|
rs749779208
|
|
NM_014625.4(NPHS2):c.855_856del (p.Arg286fs)
|
rs749740335
|
|
NM_014714.4(IFT140):c.1648C>T (p.Arg550Ter)
|
|
|
NM_014714.4(IFT140):c.1867_1870del (p.Glu623fs)
|
|
|
NM_014714.4(IFT140):c.2500C>T (p.Arg834Ter)
|
rs777399400
|
|
NM_014714.4(IFT140):c.2656C>T (p.Gln886Ter)
|
rs1567330535
|
|
NM_014714.4(IFT140):c.490G>T (p.Glu164Ter)
|
rs559314300
|
|
NM_014780.5(CUL7):c.4451_4452del (p.Val1484fs)
|
rs730880261
|
|
NM_014795.4(ZEB2):c.1257del (p.Gly421fs)
|
rs786204801
|
|
NM_014795.4(ZEB2):c.3031del (p.Ser1011fs)
|
|
|
NM_014874.4(MFN2):c.1126A>G (p.Met376Val)
|
rs863224967
|
|
NM_014874.4(MFN2):c.2171T>C (p.Leu724Pro)
|
rs1557537346
|
|
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)
|
rs878854991
|
|
NM_014967.5(FAN1):c.141C>A (p.Cys47Ter)
|
|
|
NM_014975.3(MAST1):c.1549G>A (p.Gly517Ser)
|
rs1568413207
|
|
NM_015040.4(PIKFYVE):c.3112C>T (p.Arg1038Ter)
|
|
|
NM_015087.5(SPART):c.1110del (p.Lys370fs)
|
rs1060499524
|
|
NM_015100.4(POGZ):c.1180_1181del (p.Met394fs)
|
rs1057518170
|
|
NM_015102.5(NPHP4):c.2932del (p.Glu978fs)
|
|
|
NM_015175.3(NBEAL2):c.4081G>T (p.Glu1361Ter)
|
rs1553663498
|
|
NM_015215.4(CAMTA1):c.2685_2686dup (p.Gln896fs)
|
|
|
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys)
|
|
|
NM_015295.3(SMCHD1):c.2328del (p.Phe776fs)
|
|
|
NM_015295.3(SMCHD1):c.404G>A (p.Ser135Asn)
|
rs1057519646
|
|
NM_015311.3(OBSL1):c.458dup (p.Leu154fs)
|
rs767237510
|
|
NM_015338.6(ASXL1):c.2278C>T (p.Gln760Ter)
|
|
|
NM_015352.2(POFUT1):c.397C>T (p.Arg133Ter)
|
|
|
NM_015443.4(KANSL1):c.2470C>T (p.Arg824Ter)
|
rs2077221203
|
|
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)
|
rs796051998
|
|
NM_015559.3(SETBP1):c.1588C>T (p.Arg530Ter)
|
|
|
NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter)
|
rs606231273
|
|
NM_015559.3(SETBP1):c.2087del (p.Pro696fs)
|
|
|
NM_015559.3(SETBP1):c.2606G>A (p.Ser869Asn)
|
|
|
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser)
|
rs267607040
|
|
NM_015629.4(PRPF31):c.1263dup (p.Lys422fs)
|
|
|
NM_015629.4(PRPF31):c.895T>C (p.Cys299Arg)
|
rs2073926924
|
|
NM_015896.4(ZMYND10):c.300del (p.Phe101fs)
|
rs587777043
|
|
NM_015909.4(NBAS):c.686dup (p.Ser230fs)
|
rs759315662
|
|
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter)
|
rs113993991
|
|
NM_016038.4(SBDS):c.297_300del (p.Glu99fs)
|
rs113993994
|
|
NM_016222.4(DDX41):c.1141A>T (p.Lys381Ter)
|
rs144057590
|
|
NM_016239.4(MYO15A):c.6638G>A (p.Trp2213Ter)
|
rs1567649945
|
|
NM_016239.4(MYO15A):c.7720C>T (p.Gln2574Ter)
|
|
|
NM_016356.5(DCDC2):c.705-2A>G
|
|
|
NM_016373.4(WWOX):c.409_409+14del
|
|
|
NM_016373.4(WWOX):c.606-1G>A
|
rs730882215
|
|
NM_016628.5(WAC):c.1474_1475del (p.Gln492fs)
|
|
|
NM_016648.4(LARP7):c.925C>T (p.Arg309Ter)
|
|
|
NM_017617.5(NOTCH1):c.1537C>T (p.Gln513Ter)
|
|
|
NM_017617.5(NOTCH1):c.2436del (p.Tyr813fs)
|
|
|
NM_017617.5(NOTCH1):c.2536C>T (p.Gln846Ter)
|
|
|
NM_017617.5(NOTCH1):c.3170del (p.Gln1057fs)
|
|
|
NM_017617.5(NOTCH1):c.4315_4318dup (p.Ile1440fs)
|
|
|
NM_017654.4(SAMD9):c.2471G>A (p.Arg824Gln)
|
rs1435946172
|
|
NM_017654.4(SAMD9):c.3878G>A (p.Arg1293Gln)
|
rs1791543423
|
|
NM_017777.4(MKS1):c.1408-34_1408-6del
|
rs386834043
|
|
NM_017777.4(MKS1):c.184_190del (p.Thr62fs)
|
rs386834046
|
|
NM_017780.4(CHD7):c.1090C>T (p.Gln364Ter)
|
rs727503860
|
|
NM_017780.4(CHD7):c.1953dup (p.Asp652fs)
|
rs2150669843
|
|
NM_017780.4(CHD7):c.2053del (p.Ala685fs)
|
|
|
NM_017780.4(CHD7):c.3285del (p.Asn1096fs)
|
|
|
NM_017780.4(CHD7):c.3422_3423del (p.Val1141fs)
|
rs2150761158
|
|
NM_017780.4(CHD7):c.4213C>T (p.Gln1405Ter)
|
|
|
NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter)
|
rs886040991
|
|
NM_017780.4(CHD7):c.496C>T (p.Gln166Ter)
|
rs886040978
|
|
NM_017780.4(CHD7):c.5405-7G>A
|
rs398124321
|
|
NM_017780.4(CHD7):c.5665+1G>A
|
|
|
NM_017780.4(CHD7):c.604C>T (p.Gln202Ter)
|
rs1554581277
|
|
NM_017780.4(CHD7):c.6629del (p.Glu2210fs)
|
|
|
NM_017780.4(CHD7):c.6923C>A (p.Ser2308Ter)
|
|
|
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys)
|
rs121434341
|
|
NM_017780.4(CHD7):c.7879C>T (p.Arg2627Ter)
|
rs1064793346
|
|
NM_017780.4(CHD7):c.7891C>T (p.Arg2631Ter)
|
rs587783457
|
|
NM_017802.4(DNAAF5):c.2450del (p.Ser817fs)
|
|
|
NM_017934.7(PHIP):c.1186C>T (p.Arg396Ter)
|
rs2127741566
|
|
NM_017934.7(PHIP):c.2670_2671del (p.Lys891fs)
|
|
|
NM_017950.4(CCDC40):c.2712-1G>T
|
rs370706991
|
|
NM_018006.5(TRMU):c.229T>C (p.Tyr77His)
|
rs118203990
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
|
NM_018136.5(ASPM):c.1599_1606del (p.Asn533fs)
|
|
|
NM_018136.5(ASPM):c.2026+2C>G
|
|
|
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs)
|
rs199422173
|
|
NM_018249.6(CDK5RAP2):c.448C>T (p.Arg150Ter)
|
|
|
NM_018344.6(SLC29A3):c.1346C>G (p.Thr449Arg)
|
rs267607058
|
|
NM_018367.7(ACER3):c.436C>T (p.Gln146Ter)
|
|
|
NM_018486.3(HDAC8):c.164+5G>A
|
rs398122888
|
|
NM_019014.6(POLR1B):c.3007C>T (p.Arg1003Cys)
|
rs1684813071
|
|
NM_019026.6(TMCO1):c.139_140del (p.Gln46_Ser47insTer)
|
rs752176040
|
|
NM_019032.6(ADAMTSL4):c.963del (p.Thr322fs)
|
|
|
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter)
|
rs797044883
|
|
NM_019112.4(ABCA7):c.3247C>T (p.Gln1083Ter)
|
|
|
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln)
|
rs886039764
|
|
NM_020166.5(MCCC1):c.1679dup (p.Asn560fs)
|
rs1394547323
|
|
NM_020207.7(ERCC6L2):c.1220_1221del (p.Glu407fs)
|
|
|
NM_020247.5(COQ8A):c.1085del (p.Pro362fs)
|
|
|
NM_020320.5(RARS2):c.734G>A (p.Arg245Gln)
|
|
|
NM_020436.5(SALL4):c.1242_1245del (p.Cys415fs)
|
|
|
NM_020458.4(TTC7A):c.1001+3_1001+6del
|
rs587776971
|
|
NM_020632.3(ATP6V0A4):c.338del (p.Asn113fs)
|
|
|
NM_020719.3(PRR12):c.1441C>T (p.Gln481Ter)
|
|
|
NM_020751.3(COG6):c.1167-24A>G
|
rs730882236
|
|
NM_020812.4(DOCK6):c.3180del (p.Cys1061fs)
|
|
|
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln)
|
rs397515407
|
|
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
|
|
|
NM_020928.2(ZSWIM6):c.2737C>T (p.Arg913Ter)
|
rs1554041295
|
|
NM_020937.4(FANCM):c.3577C>T (p.Gln1193Ter)
|
|
|
NM_020964.3(EPG5):c.3481C>T (p.Arg1161Ter)
|
rs587776940
|
|
NM_020975.6(RET):c.1252C>T (p.Arg418Ter)
|
rs2132747295
|
|
NM_020975.6(RET):c.1759+1G>A
|
|
|
NM_020975.6(RET):c.1852T>A (p.Cys618Ser)
|
rs76262710
|
|
NM_020975.6(RET):c.208C>T (p.Gln70Ter)
|
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_020975.6(RET):c.538C>T (p.Arg180Ter)
|
rs76449634
|
|
NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg)
|
|
|
NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys)
|
rs886039494
|
|
NM_020988.3(GNAO1):c.724-8G>A
|
rs1085307876
|
|
NM_020989.4(CRYGC):c.475dup (p.Ala159fs)
|
|
|
NM_021222.3(PRUNE1):c.521-2A>G
|
rs886039608
|
|
NM_021224.6(ZNF462):c.6163C>T (p.Arg2055Ter)
|
|
|
NM_021625.5(TRPV4):c.266C>T (p.Thr89Ile)
|
rs397514473
|
|
NM_021628.3(ALOXE3):c.631C>T (p.Arg211Ter)
|
rs141340759
|
|
NM_021728.4(OTX2):c.165_168del (p.Ala56fs)
|
|
|
NM_021828.5(HPSE2):c.57dup (p.Ala20fs)
|
rs778121647
|
|
NM_021870.2(FGG):c.1007T>C (p.Met336Thr)
|
rs121913091
|
|
NM_021871.4(FGA):c.1483_1495del (p.Met495fs)
|
|
|
NM_021939.4(FKBP10):c.1016_1023dup (p.Thr342fs)
|
|
|
NM_022089.4(ATP13A2):c.1033_1034del (p.Leu345fs)
|
|
|
NM_022124.6(CDH23):c.9381-2A>G
|
|
|
NM_022356.4(P3H1):c.838C>T (p.Gln280Ter)
|
rs1652551021
|
|
NM_022436.3(ABCG5):c.727C>T (p.Arg243Ter)
|
rs119479066
|
|
NM_022455.5(NSD1):c.2256_2257del (p.Pro753fs)
|
rs1581319715
|
|
NM_022455.5(NSD1):c.4072C>T (p.Gln1358Ter)
|
|
|
NM_022455.5(NSD1):c.4417C>T (p.Arg1473Ter)
|
rs587784117
|
|
NM_022489.4(INF2):c.556T>C (p.Ser186Pro)
|
rs267606877
|
|
NM_022552.5(DNMT3A):c.1803G>A (p.Trp601Ter)
|
|
|
NM_023067.4(FOXL2):c.251T>G (p.Ile84Ser)
|
rs28937884
|
|
NM_023067.4(FOXL2):c.644A>G (p.Tyr215Cys)
|
rs1057516168
|
|
NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs)
|
rs672601359
|
|
NM_023110.3(FGFR1):c.2059G>A (p.Gly687Arg)
|
rs727505376
|
|
NM_024408.4(NOTCH2):c.6403_6404del (p.Leu2135fs)
|
rs1649067817
|
|
NM_024426.6(WT1):c.1400G>A (p.Arg467Gln)
|
rs121907903
|
|
NM_024426.6(WT1):c.1400G>C (p.Arg467Pro)
|
rs121907903
|
|
NM_024426.6(WT1):c.1405G>T (p.Asp469Tyr)
|
rs28941778
|
|
NM_024426.6(WT1):c.1447+4C>T
|
rs587776577
|
|
NM_024426.6(WT1):c.1447+5G>A
|
rs587776576
|
|
NM_024426.6(WT1):c.381del (p.Ala128fs)
|
|
|
NM_024426.6(WT1):c.619del (p.Leu207fs)
|
|
|
NM_024426.6(WT1):c.796_797dup (p.Ser267fs)
|
|
|
NM_024513.4(FYCO1):c.3270-2A>C
|
|
|
NM_024513.4(FYCO1):c.3670C>T (p.Arg1224Ter)
|
|
|
NM_024513.4(FYCO1):c.4270C>T (p.Arg1424Ter)
|
|
|
NM_024514.5(CYP2R1):c.768dup (p.Leu257fs)
|
rs1422405747
|
|
NM_024529.5(CDC73):c.687_688dup (p.Val230fs)
|
rs760591174
|
|
NM_024570.4(RNASEH2B):c.136+1del
|
rs75186889
|
|
NM_024649.5(BBS1):c.724-8_726del
|
rs1856202628
|
|
NM_024649.5(BBS1):c.871C>T (p.Gln291Ter)
|
rs1057517143
|
|
NM_024675.4(PALB2):c.2325dup (p.Phe776fs)
|
rs876659997
|
|
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs)
|
rs730881869
|
|
NM_024675.4(PALB2):c.2835-1G>A
|
rs515726099
|
|
NM_024675.4(PALB2):c.3244_3245del (p.Glu1081_Ser1082insTer)
|
rs886039503
|
|
NM_024675.4(PALB2):c.3350+4A>G
|
rs180177136
|
|
NM_024675.4(PALB2):c.3456dup (p.Pro1153fs)
|
rs587776426
|
|
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)
|
rs118203998
|
|
NM_024675.4(PALB2):c.509_510del (p.Arg170fs)
|
rs515726123
|
|
NM_024675.4(PALB2):c.839del (p.Asn280fs)
|
rs1555461597
|
|
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs)
|
rs770556842
|
|
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter)
|
rs375413604
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_024685.4(BBS10):c.409C>T (p.Gln137Ter)
|
rs2136091166
|
|
NM_024685.4(BBS10):c.909_912del (p.Ser303fs)
|
rs780059308
|
|
NM_024747.6(HPS6):c.60_64dup (p.Leu22fs)
|
rs752399257
|
|
NM_024757.5(EHMT1):c.2610_2613dup (p.Gly872Ter)
|
|
|
NM_025074.7(FRAS1):c.10597C>T (p.Arg3533Ter)
|
|
|
NM_025074.7(FRAS1):c.4016G>A (p.Trp1339Ter)
|
|
|
NM_025099.6(CTC1):c.3019del (p.Leu1007fs)
|
|
|
NM_025114.4(CEP290):c.2390del (p.Lys797fs)
|
rs781670422
|
|
NM_025114.4(CEP290):c.2506_2507del (p.Glu836fs)
|
rs1223251937
|
|
NM_025114.4(CEP290):c.384_387del (p.Asp128fs)
|
rs386834157
|
|
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs)
|
rs780624853
|
|
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter)
|
rs62640574
|
|
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs)
|
rs764309755
|
|
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs)
|
rs62638180
|
|
NM_025114.4(CEP290):c.5953G>T (p.Glu1985Ter)
|
|
|
NM_025114.4(CEP290):c.6604del (p.Ile2202fs)
|
rs758329611
|
|
NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs)
|
rs763762899
|
|
NM_025137.4(SPG11):c.1203del (p.Asp402fs)
|
rs312262722
|
|
NM_025137.4(SPG11):c.6898_6899del (p.Leu2300fs)
|
rs312262786
|
|
NM_025144.4(ALPK1):c.710C>T (p.Thr237Met)
|
rs1052954321
|
|
NM_025216.3(WNT10A):c.532_537delinsA (p.Gln178fs)
|
|
|
NM_030632.3(ASXL3):c.3039+1G>A
|
rs1555743003
|
|
NM_030662.4(MAP2K2):c.383C>T (p.Pro128Leu)
|
rs267607230
|
|
NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His)
|
rs121434499
|
|
NM_030665.4(RAI1):c.640C>T (p.Gln214Ter)
|
|
|
NM_030777.4(SLC2A10):c.1334del (p.Gly445fs)
|
rs587776600
|
|
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg)
|
rs80358230
|
|
NM_031263.4(HNRNPK):c.1053_1054dup (p.Trp352fs)
|
|
|
NM_031421.5(ODAD4):c.397+1G>A
|
|
|
NM_031421.5(ODAD4):c.459+1G>A
|
|
|
NM_031433.4(MFRP):c.498del (p.Asn167fs)
|
rs587776596
|
|
NM_031443.4(CCM2):c.169_172del (p.Arg57fs)
|
rs1562882045
|
|
NM_031443.4(CCM2):c.289-1G>T
|
rs1562907365
|
|
NM_031443.4(CCM2):c.30+1G>A
|
rs1562848479
|
|
NM_031443.4(CCM2):c.30+5_30+6delinsTT
|
rs797044623
|
|
NM_031443.4(CCM2):c.314del (p.His104_Leu105insTer)
|
rs1562907455
|
|
NM_031443.4(CCM2):c.610-1G>A
|
rs1562913873
|
|
NM_031448.6(C19orf12):c.171_181del (p.Gly58fs)
|
rs515726204
|
|
NM_031885.5(BBS2):c.1371del (p.Lys458fs)
|
rs2144143132
|
|
NM_031885.5(BBS2):c.1770del (p.Phe590fs)
|
rs193922711
|
|
NM_031885.5(BBS2):c.472-2A>G
|
rs137854887
|
|
NM_031889.3(ENAM):c.588+1del
|
rs752102959
|
|
NM_032043.3(BRIP1):c.2010dup (p.Glu671Ter)
|
rs775537066
|
|
NM_032119.4(ADGRV1):c.14404C>T (p.Arg4802Ter)
|
rs1236715896
|
|
NM_032382.5(COG8):c.1680_1681del (p.Glu560fs)
|
rs780534334
|
|
NM_032383.5(HPS3):c.851_852del (p.Arg284fs)
|
rs750685598
|
|
NM_032638.5(GATA2):c.1009C>T (p.Arg337Ter)
|
rs387906632
|
|
NM_032638.5(GATA2):c.1017+2T>A
|
rs1576746830
|
|
NM_032638.5(GATA2):c.1017+572C>T
|
rs1559985787
|
|
NM_032638.5(GATA2):c.1061C>T (p.Thr354Met)
|
rs387906631
|
|
NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter)
|
rs1553770510
|
|
NM_032638.5(GATA2):c.1128C>A (p.Tyr376Ter)
|
rs750890699
|
|
NM_032638.5(GATA2):c.1186C>T (p.Arg396Trp)
|
rs1576744529
|
|
NM_032638.5(GATA2):c.1187G>A (p.Arg396Gln)
|
rs1553770434
|
|
NM_032638.5(GATA2):c.1192C>T (p.Arg398Trp)
|
rs387906629
|
|
NM_032638.5(GATA2):c.561dup (p.Thr188fs)
|
rs1576748738
|
|
NM_032638.5(GATA2):c.599del (p.Gly200fs)
|
rs768767517
|
|
NM_032638.5(GATA2):c.599dup (p.Gly200_Ser201insTer)
|
rs768767517
|
|
NM_032638.5(GATA2):c.610C>T (p.Arg204Ter)
|
rs1576748638
|
|
NM_032737.4(LMNB2):c.1192G>A (p.Glu398Lys)
|
rs1971791380
|
|
NM_032856.5(WDR73):c.888del (p.Phe296fs)
|
rs869320712
|
|
NM_033028.5(BBS4):c.960T>A (p.Tyr320Ter)
|
rs770891152
|
|
NM_033360.4(KRAS):c.*22C>G
|
rs104894362
|
|
NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter)
|
rs104886094
|
|
NM_033380.3(COL4A5):c.1226G>A (p.Gly409Asp)
|
rs104886101
|
|
NM_033380.3(COL4A5):c.1780-1G>T
|
rs104886338
|
|
NM_033380.3(COL4A5):c.2732G>A (p.Gly911Glu)
|
rs104886363
|
|
NM_033380.3(COL4A5):c.2740_2745delinsC (p.Gly914fs)
|
|
|
NM_033380.3(COL4A5):c.3295_3299del (p.Ser1099fs)
|
|
|
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser)
|
rs104886228
|
|
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser)
|
rs1569505771
|
|
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg)
|
rs104886303
|
|
NM_033629.6(TREX1):c.144dup (p.Thr49fs)
|
rs748914604
|
|
NM_033629.6(TREX1):c.236_243dup (p.Ser82fs)
|
rs1331920811
|
|
NM_033629.6(TREX1):c.58dup (p.Glu20fs)
|
rs78300695
|
|
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)
|
rs79318303
|
|
NM_052867.4(NALCN):c.1799A>G (p.Asp600Gly)
|
rs1594368726
|
|
NM_053274.3(GLMN):c.1355del (p.Leu452fs)
|
rs773435694
|
|
NM_053274.3(GLMN):c.157_161del (p.Glu52_Lys53insTer)
|
rs762515373
|
|
NM_054012.4(ASS1):c.774-2A>G
|
rs1588496214
|
|
NM_058216.3(RAD51C):c.181_182del (p.Leu61fs)
|
rs786203945
|
|
NM_058216.3(RAD51C):c.224_225dup (p.Ala76fs)
|
rs1598455598
|
|
NM_058216.3(RAD51C):c.277C>T (p.Gln93Ter)
|
rs1555593670
|
|
NM_080680.3(COL11A2):c.3100C>T (p.Arg1034Cys)
|
rs121912947
|
|
NM_130837.3(OPA1):c.1681+1G>T
|
rs886041318
|
|
NM_130837.3(OPA1):c.1800C>A (p.Ser600Arg)
|
rs398124298
|
|
NM_130837.3(OPA1):c.2253_2254del (p.Ile751_Phe752insTer)
|
|
|
NM_130837.3(OPA1):c.2287del (p.Ser763fs)
|
rs1219753329
|
|
NM_130837.3(OPA1):c.2296C>T (p.Arg766Ter)
|
rs863224906
|
|
NM_130837.3(OPA1):c.2873_2876del
|
rs80356530
|
|
NM_130837.3(OPA1):c.336del (p.Tyr113fs)
|
|
|
NM_130837.3(OPA1):c.507dup (p.Asp170Ter)
|
|
|
NM_130837.3(OPA1):c.872T>G (p.Leu291Ter)
|
|
|
NM_130839.5(UBE3A):c.1576C>T (p.Arg526Cys)
|
rs1064793307
|
|
NM_130839.5(UBE3A):c.1871_1872del (p.Cys624fs)
|
rs864309508
|
|
NM_130839.5(UBE3A):c.2515_2518dup (p.Cys840fs)
|
|
|
NM_130839.5(UBE3A):c.2532_2535dup (p.Leu846fs)
|
|
|
NM_130849.4(SLC39A4):c.1465_1474+4del
|
rs782563835
|
|
NM_133433.4(NIPBL):c.133C>T (p.Arg45Ter)
|
rs80358367
|
|
NM_133433.4(NIPBL):c.2602C>T (p.Arg868Ter)
|
rs398124466
|
|
NM_133433.4(NIPBL):c.5329-15A>G
|
rs587783968
|
|
NM_133433.4(NIPBL):c.6873dup (p.His2292fs)
|
|
|
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His)
|
rs587784024
|
|
NM_133433.4(NIPBL):c.7789del (p.Leu2597fs)
|
rs80358368
|
|
NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg)
|
rs149648640
|
|
NM_138295.5(PKD1L1):c.6473+2_6473+3del
|
rs528302390
|
|
NM_138295.5(PKD1L1):c.7663C>T (p.Arg2555Ter)
|
rs200853469
|
|
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del)
|
rs397509360
|
|
NM_138638.5(CFL2):c.100_103del (p.Lys34fs)
|
rs1885387438
|
|
NM_138691.3(TMC1):c.2050G>C (p.Asp684His)
|
|
|
NM_138694.4(PKHD1):c.10109dup (p.Phe3371fs)
|
rs1057517071
|
|
NM_138694.4(PKHD1):c.11310+1G>C
|
rs1365407882
|
|
NM_138694.4(PKHD1):c.1492del (p.Gln498fs)
|
|
|
NM_138694.4(PKHD1):c.2299_2306delinsTCTG (p.Thr767fs)
|
rs1064796287
|
|
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)
|
rs370277502
|
|
NM_138694.4(PKHD1):c.3202A>T (p.Arg1068Ter)
|
|
|
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs)
|
rs398124484
|
|
NM_138694.4(PKHD1):c.5411del (p.Arg1804fs)
|
rs1554194574
|
|
NM_138694.4(PKHD1):c.5909-2del
|
rs1334913120
|
|
NM_138694.4(PKHD1):c.6332+2T>A
|
rs1783090781
|
|
NM_138694.4(PKHD1):c.6683-2A>G
|
|
|
NM_138694.4(PKHD1):c.7275del (p.Phe2425fs)
|
|
|
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter)
|
rs398124498
|
|
NM_138927.4(SON):c.2381del (p.Gln794fs)
|
|
|
NM_139027.6(ADAMTS13):c.1456_1457del (p.Met486fs)
|
|
|
NM_139248.3(LIPH):c.659_660del (p.Ile220fs)
|
rs559648418
|
|
NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu)
|
rs1064794957
|
|
NM_144668.6(CFAP251):c.799C>T (p.Arg267Ter)
|
|
|
NM_144672.4(OTOA):c.828del (p.Ser277fs)
|
rs751447996
|
|
NM_144997.7(FLCN):c.1285del (p.His429fs)
|
rs80338682
|
|
NM_144997.7(FLCN):c.1285dup (p.His429fs)
|
rs80338682
|
|
NM_144997.7(FLCN):c.1389C>G (p.Tyr463Ter)
|
rs137852929
|
|
NM_144997.7(FLCN):c.250-2A>G
|
rs398124533
|
|
NM_144997.7(FLCN):c.619-1G>A
|
rs1131690840
|
|
NM_144997.7(FLCN):c.890_893del (p.Glu297fs)
|
rs398124541
|
|
NM_145239.3(PRRT2):c.649del (p.Arg217fs)
|
rs587778771
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_145239.3(PRRT2):c.971dup (p.Val325fs)
|
rs796052941
|
|
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter)
|
rs763363403
|
|
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
|
|
|
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg)
|
rs398122887
|
|
NM_152424.4(AMER1):c.1072C>T (p.Arg358Ter)
|
rs137852217
|
|
NM_152564.5(VPS13B):c.9331-1G>T
|
rs386834119
|
|
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer)
|
rs587777803
|
|
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs)
|
rs1560708847
|
|
NM_152722.5(HEPACAM):c.265G>A (p.Gly89Ser)
|
rs387907053
|
|
NM_153240.5(NPHP3):c.273del (p.Glu90_Tyr91insTer)
|
rs758558609
|
|
NM_153240.5(NPHP3):c.3812+2dup
|
|
|
NM_153240.5(NPHP3):c.406del (p.Thr136fs)
|
rs1379989124
|
|
NM_153717.3(EVC):c.1269_1278del (p.Gln424fs)
|
|
|
NM_153717.3(EVC):c.1887-5_1904del
|
rs779275317
|
|
NM_153717.3(EVC):c.384+5G>C
|
rs1553865348
|
|
NM_153717.3(EVC):c.618-2A>G
|
|
|
NM_172107.4(KCNQ2):c.358A>T (p.Lys120Ter)
|
|
|
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln)
|
rs796052618
|
|
NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val)
|
rs118192199
|
|
NM_172107.4(KCNQ2):c.833T>C (p.Ile278Thr)
|
rs1057523728
|
|
NM_172107.4(KCNQ2):c.902G>A (p.Gly301Asp)
|
rs1131691936
|
|
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del)
|
rs118192212
|
|
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)
|
rs606231128
|
|
NM_173660.5(DOK7):c.1263dup (p.Ser422fs)
|
rs606231129
|
|
NM_174878.3(CLRN1):c.502dup (p.Ile168fs)
|
rs746523071
|
|
NM_175914.5(HNF4A):c.-181G>A
|
rs2146126966
|
|
NM_176824.3(BBS7):c.712_715del (p.Arg238fs)
|
rs760165634
|
|
NM_177438.3(DICER1):c.1196_1197dup (p.Trp400fs)
|
rs1595438867
|
|
NM_177438.3(DICER1):c.1306dup (p.Ser436fs)
|
rs1595438234
|
|
NM_177438.3(DICER1):c.1329_1344del (p.Cys443fs)
|
rs1595438051
|
|
NM_177438.3(DICER1):c.1525C>T (p.Arg509Ter)
|
rs886037672
|
|
NM_177438.3(DICER1):c.1630C>T (p.Arg544Ter)
|
rs137852979
|
|
NM_177438.3(DICER1):c.1870C>T (p.Arg624Ter)
|
rs754818927
|
|
NM_177438.3(DICER1):c.1966C>T (p.Arg656Ter)
|
rs754081635
|
|
NM_177438.3(DICER1):c.2026C>T (p.Arg676Ter)
|
rs878855246
|
|
NM_177438.3(DICER1):c.2650+1G>A
|
rs886037691
|
|
NM_177438.3(DICER1):c.2988-2A>G
|
rs1595372950
|
|
NM_177438.3(DICER1):c.3007C>T (p.Arg1003Ter)
|
rs1060503605
|
|
NM_177438.3(DICER1):c.3273C>G (p.Tyr1091Ter)
|
rs886037698
|
|
NM_177438.3(DICER1):c.4309_4312del (p.Asp1437fs)
|
rs886037712
|
|
NM_177438.3(DICER1):c.4605_4606del (p.Cys1535fs)
|
rs886037717
|
|
NM_177438.3(DICER1):c.5125G>A (p.Asp1709Asn)
|
rs1595331264
|
|
NM_177438.3(DICER1):c.5441C>T (p.Ser1814Leu)
|
rs1060503625
|
|
NM_177438.3(DICER1):c.869C>A (p.Ser290Ter)
|
rs1595447658
|
|
NM_177438.3(DICER1):c.947G>A (p.Trp316Ter)
|
rs1555374839
|
|
NM_177924.5(ASAH1):c.410_411del (p.Phe136_Tyr137insTer)
|
rs1281024431
|
|
NM_181426.2(CCDC39):c.1871_1872del (p.Ile624fs)
|
rs1560086701
|
|
NM_181486.4(TBX5):c.663+1G>A
|
rs1871328488
|
|
NM_181486.4(TBX5):c.835C>T (p.Arg279Ter)
|
rs863223788
|
|
NM_181523.3(PIK3R1):c.1425+1G>A
|
rs587777709
|
|
NM_181523.3(PIK3R1):c.901C>T (p.Arg301Ter)
|
rs367669362
|
|
NM_182916.3(TRNT1):c.498_501del (p.Phe167fs)
|
rs754883449
|
|
NM_182925.5(FLT4):c.2815del (p.Leu939fs)
|
|
|
NM_182925.5(FLT4):c.3019dup (p.Ser1007fs)
|
|
|
NM_182943.3(PLOD2):c.2122-2A>G
|
|
|
NM_182961.4(SYNE1):c.17816_17820del (p.Asp5939fs)
|
rs794727986
|
|
NM_182961.4(SYNE1):c.706C>T (p.Arg236Ter)
|
rs2154331501
|
|
NM_183235.3(RAB27A):c.514_518del (p.Gln172fs)
|
rs767481076
|
|
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter)
|
rs80356590
|
|
NM_194248.3(OTOF):c.2239G>T (p.Glu747Ter)
|
rs397515591
|
|
NM_194454.3(KRIT1):c.1031del (p.Gly344fs)
|
rs1563279045
|
|
NM_194454.3(KRIT1):c.1146+1G>A
|
rs886039401
|
|
NM_194454.3(KRIT1):c.1147-13C>G
|
rs779465895
|
|
NM_194454.3(KRIT1):c.1201C>T (p.Gln401Ter)
|
rs1331502949
|
|
NM_194454.3(KRIT1):c.1201_1204del (p.Gln401fs)
|
rs1057517753
|
|
NM_194454.3(KRIT1):c.1237_1240del (p.Glu413fs)
|
rs1563275256
|
|
NM_194454.3(KRIT1):c.1255-1G>A
|
rs1563267100
|
|
NM_194454.3(KRIT1):c.1255-1_1256del
|
rs1554514380
|
|
NM_194454.3(KRIT1):c.1267C>T (p.Arg423Ter)
|
rs886039402
|
|
NM_194454.3(KRIT1):c.1306_1310del (p.Leu436fs)
|
rs1563266658
|
|
NM_194454.3(KRIT1):c.1362_1363del (p.Gln455fs)
|
rs1180476377
|
|
NM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter)
|
rs267607203
|
|
NM_194454.3(KRIT1):c.1391G>A (p.Trp464Ter)
|
rs1563265959
|
|
NM_194454.3(KRIT1):c.1412-2A>C
|
rs1563264113
|
|
NM_194454.3(KRIT1):c.146_147del (p.Arg49fs)
|
rs1057518665
|
|
NM_194454.3(KRIT1):c.1513C>T (p.Gln505Ter)
|
rs1563263366
|
|
NM_194454.3(KRIT1):c.151_154del (p.Lys51fs)
|
rs886041209
|
|
NM_194454.3(KRIT1):c.152_155del (p.Lys51fs)
|
rs886039400
|
|
NM_194454.3(KRIT1):c.1563+1G>A
|
rs549591728
|
|
NM_194454.3(KRIT1):c.1593_1594del (p.Leu531_Phe532insTer)
|
|
|
NM_194454.3(KRIT1):c.1657dup (p.Thr553fs)
|
rs1563245290
|
|
NM_194454.3(KRIT1):c.1702_1703del (p.Glu567_Ser568insTer)
|
rs1554504484
|
|
NM_194454.3(KRIT1):c.1710del (p.Lys570fs)
|
rs1563244807
|
|
NM_194454.3(KRIT1):c.1730+4_1730+7del
|
rs1563244596
|
|
NM_194454.3(KRIT1):c.1730+5G>A
|
rs1563244618
|
|
NM_194454.3(KRIT1):c.1807del (p.His603fs)
|
rs886039572
|
|
NM_194454.3(KRIT1):c.1815C>G (p.Tyr605Ter)
|
rs1563242500
|
|
NM_194454.3(KRIT1):c.1849G>T (p.Glu617Ter)
|
rs1554503116
|
|
NM_194454.3(KRIT1):c.2092C>T (p.Gln698Ter)
|
rs1563211627
|
|
NM_194454.3(KRIT1):c.268C>T (p.Arg90Ter)
|
rs1563313372
|
|
NM_194454.3(KRIT1):c.418C>T (p.Arg140Ter)
|
rs866982998
|
|
NM_194454.3(KRIT1):c.679dup (p.Thr227fs)
|
rs1563305588
|
|
NM_194454.3(KRIT1):c.715C>T (p.Gln239Ter)
|
rs886043300
|
|
NM_194454.3(KRIT1):c.730-1G>A
|
rs1554527922
|
|
NM_194454.3(KRIT1):c.829_832dup (p.Val278fs)
|
|
|
NM_194454.3(KRIT1):c.842del (p.Asp281fs)
|
rs1563302951
|
|
NM_194454.3(KRIT1):c.845+1G>A
|
rs1563302941
|
|
NM_194454.3(KRIT1):c.880C>T (p.Arg294Ter)
|
rs764960797
|
|
NM_194454.3(KRIT1):c.902C>G (p.Ser301Ter)
|
rs1554527169
|
|
NM_198239.2(CCN6):c.621_622delinsT (p.Lys207fs)
|
|
|
NM_198253.3(TERT):c.1174_1175del (p.Leu392fs)
|
|
|
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs)
|
rs606231137
|
|
NM_198428.3(BBS9):c.2007_2008dup (p.Ala670fs)
|
rs1266192229
|
|
NM_198525.3(KIF7):c.1640dup (p.Arg549fs)
|
|
|
NM_201253.3(CRB1):c.3687C>A (p.Cys1229Ter)
|
|
|
NM_203475.3(PORCN):c.1076_1077dup (p.Val360fs)
|
|
|
NM_203475.3(PORCN):c.661del (p.Leu221fs)
|
|
|
NM_206933.4(USH2A):c.236_239dup (p.Gln81fs)
|
rs1553258097
|
|
NM_206937.2(LIG4):c.1904del (p.Lys635fs)
|
rs375554612
|
|
NM_206965.2(FTCD):c.990dup (p.Pro331fs)
|
rs398124234
|
|
NM_207037.2(TCF12):c.1073C>G (p.Ser358Ter)
|
|
|
NM_207122.2(EXT2):c.454_457del (p.Val154fs)
|
rs864309636
|
|
NM_207122.2(EXT2):c.666C>G (p.Tyr222Ter)
|
rs121918281
|
|
NM_207122.2(EXT2):c.744-2A>C
|
rs864309638
|
|
NM_207122.2(EXT2):c.937C>T (p.Gln313Ter)
|
rs763718818
|
|
NM_207361.6(FREM2):c.3297dup (p.Asp1100Ter)
|
|
|
NM_213599.3(ANO5):c.191dup (p.Asn64fs)
|
rs137854521
|
|
NM_213653.4(HJV):c.302T>C (p.Leu101Pro)
|
rs74315327
|
|