NM_000140.5(FECH):c.315-48T>C
|
rs2272783
|
0.06200
|
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)
|
rs1800562
|
0.03880
|
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_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)
|
rs55960271
|
0.00561
|
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)
|
rs6445
|
0.00530
|
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_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)
|
rs121918166
|
0.00350
|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
|
rs1800553
|
0.00269
|
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)
|
rs121918007
|
0.00200
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
0.00181
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)
|
rs61751374
|
0.00178
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs113994094
|
0.00159
|
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)
|
rs104894299
|
0.00149
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
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_000098.3(CPT2):c.338C>T (p.Ser113Leu)
|
rs74315294
|
0.00134
|
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter)
|
rs72653706
|
0.00122
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln)
|
rs76151636
|
0.00100
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00092
|
NM_005138.3(SCO2):c.16_17insAGCATGCAGCAGTGACTCA (p.Arg6fs)
|
rs749838192
|
0.00091
|
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter)
|
rs121908119
|
0.00087
|
NM_194318.4(B3GLCT):c.660+1G>A
|
rs80338851
|
0.00083
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00081
|
NM_000158.4(GBE1):c.691+2T>C
|
rs192044702
|
0.00078
|
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)
|
rs111033212
|
0.00077
|
NM_000016.6(ACADM):c.199T>C (p.Tyr67His)
|
rs121434280
|
0.00073
|
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)
|
rs11555217
|
0.00072
|
NM_005797.4(MPZL2):c.72del (p.Ile24fs)
|
rs752672077
|
0.00069
|
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)
|
rs113994095
|
0.00068
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_005340.7(HINT1):c.110G>C (p.Arg37Pro)
|
rs149782619
|
0.00064
|
NM_000372.5(TYR):c.1037-7T>A
|
rs61754381
|
0.00051
|
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)
|
rs61754388
|
0.00051
|
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)
|
rs137854529
|
0.00049
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)
|
rs387906309
|
0.00046
|
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)
|
rs138977195
|
0.00041
|
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)
|
rs150212784
|
0.00039
|
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu)
|
rs28940893
|
0.00037
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
NM_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00034
|
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)
|
rs113993959
|
0.00029
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_003907.3(EIF2B5):c.338G>A (p.Arg113His)
|
rs113994049
|
0.00027
|
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter)
|
rs139455627
|
0.00027
|
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)
|
rs11549407
|
0.00026
|
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter)
|
rs119455955
|
0.00025
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
NM_001126108.2(SLC12A3):c.2856+1G>T
|
rs199974259
|
0.00024
|
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)
|
rs121912707
|
0.00024
|
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys)
|
rs121918221
|
0.00024
|
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)
|
rs75527207
|
0.00022
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
NM_021615.5(CHST6):c.599T>G (p.Leu200Arg)
|
rs28937879
|
0.00022
|
NM_000520.6(HEXA):c.1073+1G>A
|
rs76173977
|
0.00021
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
NM_000083.3(CLCN1):c.180+3A>T
|
rs202217420
|
0.00019
|
NM_000152.5(GAA):c.525del (p.Glu176fs)
|
rs386834235
|
0.00019
|
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu)
|
rs149095128
|
0.00018
|
NM_000155.4(GALT):c.855G>T (p.Lys285Asn)
|
rs111033773
|
0.00017
|
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
|
rs61751392
|
0.00017
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys)
|
rs371024165
|
0.00017
|
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)
|
rs80034486
|
0.00016
|
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)
|
rs141656719
|
0.00015
|
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)
|
rs121907954
|
0.00015
|
NM_000275.3(OCA2):c.1182+1G>A
|
rs371963034
|
0.00014
|
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)
|
rs121918358
|
0.00014
|
NM_001048174.2(MUTYH):c.849+3A>C
|
rs587780751
|
0.00013
|
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter)
|
rs121918226
|
0.00013
|
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)
|
rs62645748
|
0.00013
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
NM_001379610.1(SPINK1):c.194+2T>C
|
rs148954387
|
0.00012
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
0.00012
|
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp)
|
rs104894637
|
0.00011
|
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)
|
rs111033205
|
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_003742.4(ABCB11):c.890A>G (p.Glu297Gly)
|
rs11568372
|
0.00011
|
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys)
|
rs74315396
|
0.00011
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
NM_000402.4(G6PD):c.961G>A (p.Val321Met)
|
rs137852327
|
0.00010
|
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)
|
rs104893688
|
0.00010
|
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter)
|
rs150419186
|
0.00010
|
NM_000026.4(ADSL):c.340T>C (p.Tyr114His)
|
rs374259530
|
0.00009
|
NM_000518.5(HBB):c.93-21G>A
|
rs35004220
|
0.00009
|
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr)
|
rs121909100
|
0.00009
|
NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter)
|
rs137853907
|
0.00009
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_000048.4(ASL):c.446+1G>A
|
rs142637046
|
0.00008
|
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter)
|
rs200056620
|
0.00008
|
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg)
|
rs375401970
|
0.00008
|
NM_002528.7(NTHL1):c.526-1G>A
|
rs779757251
|
0.00008
|
NM_001370658.1(BTD):c.566G>A (p.Arg189His)
|
rs398123139
|
0.00007
|
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter)
|
rs104894471
|
0.00007
|
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)
|
rs121434548
|
0.00006
|
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys)
|
rs121918528
|
0.00006
|
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)
|
rs28940578
|
0.00006
|
NM_000372.5(TYR):c.229C>T (p.Arg77Trp)
|
rs61753184
|
0.00006
|
NM_000400.4(ERCC2):c.335G>A (p.Arg112His)
|
rs121913020
|
0.00006
|
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)
|
rs151048781
|
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_001164508.2(NEB):c.3255+1G>A
|
rs375628303
|
0.00006
|
NM_001371904.1(APOA5):c.289C>T (p.Gln97Ter)
|
rs201079485
|
0.00006
|
NM_001384474.1(LOXHD1):c.3061+1G>A
|
rs537227442
|
0.00006
|
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu)
|
rs267607258
|
0.00006
|
NM_014714.4(IFT140):c.2399+1G>T
|
rs376586707
|
0.00006
|
NM_015937.6(PIGT):c.1582G>A (p.Val528Met)
|
rs771157170
|
0.00006
|
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter)
|
rs104894707
|
0.00006
|
NM_000518.5(HBB):c.92+1G>A
|
rs33971440
|
0.00005
|
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter)
|
rs149850248
|
0.00005
|
NM_012186.3(FOXE3):c.244A>G (p.Met82Val)
|
rs746531116
|
0.00005
|
NM_020451.3(SELENON):c.1A>G (p.Met1Val)
|
rs121908184
|
0.00005
|
NM_025137.4(SPG11):c.733_734del (p.Met245fs)
|
rs312262720
|
0.00005
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_000016.6(ACADM):c.50G>A (p.Arg17His)
|
rs17848070
|
0.00004
|
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp)
|
rs28940875
|
0.00004
|
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)
|
rs587781347
|
0.00004
|
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)
|
rs140826989
|
0.00004
|
NM_000153.4(GALC):c.2041G>A (p.Val681Met)
|
rs200607029
|
0.00004
|
NM_000218.3(KCNQ1):c.613G>A (p.Val205Met)
|
rs151344631
|
0.00004
|
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)
|
rs200411226
|
0.00004
|
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val)
|
rs200457227
|
0.00004
|
NM_000371.4(TTR):c.148G>A (p.Val50Met)
|
rs28933979
|
0.00004
|
NM_000404.4(GLB1):c.176G>A (p.Arg59His)
|
rs72555392
|
0.00004
|
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter)
|
rs121913572
|
0.00004
|
NM_000432.4(MYL2):c.403-1G>C
|
rs199474813
|
0.00004
|
NM_000518.5(HBB):c.-140C>T
|
rs34999973
|
0.00004
|
NM_001048174.2(MUTYH):c.205C>T (p.Arg69Ter)
|
rs138775799
|
0.00004
|
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter)
|
rs587780104
|
0.00004
|
NM_003480.4(MFAP5):c.472C>T (p.Arg158Ter)
|
rs727502791
|
0.00004
|
NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter)
|
rs779070661
|
0.00004
|
NM_004369.4(COL6A3):c.8966-1G>C
|
rs767517186
|
0.00004
|
NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter)
|
rs541717028
|
0.00004
|
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)
|
rs28897672
|
0.00004
|
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)
|
rs200293302
|
0.00004
|
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)
|
rs11571658
|
0.00003
|
NM_000143.4(FH):c.698G>A (p.Arg233His)
|
rs121913123
|
0.00003
|
NM_000256.3(MYBPC3):c.1224-52G>A
|
rs786204336
|
0.00003
|
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)
|
rs3218716
|
0.00003
|
NM_000394.4(CRYAA):c.160C>T (p.Arg54Cys)
|
rs397515623
|
0.00003
|
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)
|
rs5030869
|
0.00003
|
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter)
|
rs587780021
|
0.00003
|
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter)
|
rs121908805
|
0.00003
|
NM_000518.5(HBB):c.315+1G>A
|
rs33945777
|
0.00003
|
NM_000518.5(HBB):c.316-106C>G
|
rs34690599
|
0.00003
|
NM_001005242.3(PKP2):c.2014-1G>C
|
rs193922674
|
0.00003
|
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn)
|
rs104894503
|
0.00003
|
NM_001142800.2(EYS):c.6714del (p.Ile2239fs)
|
rs752953889
|
0.00003
|
NM_001142800.2(EYS):c.7228+1G>A
|
rs758899480
|
0.00003
|
NM_001378609.3(OTOGL):c.5449C>T (p.Arg1817Ter)
|
rs768620276
|
0.00003
|
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter)
|
rs387906843
|
0.00003
|
NM_003104.6(SORD):c.328C>T (p.Arg110Ter)
|
rs745509632
|
0.00003
|
NM_004004.6(GJB2):c.299_300del (p.His100fs)
|
rs111033204
|
0.00003
|
NM_005476.7(GNE):c.737G>A (p.Arg246Gln)
|
rs121908629
|
0.00003
|
NM_006363.6(SEC23B):c.689+1G>A
|
rs398124226
|
0.00003
|
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)
|
rs80357123
|
0.00003
|
NM_000083.3(CLCN1):c.2434C>T (p.Gln812Ter)
|
rs772150974
|
0.00002
|
NM_000169.3(GLA):c.335G>A (p.Arg112His)
|
rs372966991
|
0.00002
|
NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln)
|
rs120074178
|
0.00002
|
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter)
|
rs387907267
|
0.00002
|
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr)
|
rs121917744
|
0.00002
|
NM_000372.5(TYR):c.265T>C (p.Cys89Arg)
|
rs28940877
|
0.00002
|
NM_000402.4(G6PD):c.944G>A (p.Arg315His)
|
rs74575103
|
0.00002
|
NM_000518.5(HBB):c.52A>T (p.Lys18Ter)
|
rs33986703
|
0.00002
|
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp)
|
rs763112609
|
0.00002
|
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)
|
rs137852972
|
0.00002
|
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys)
|
rs121908955
|
0.00002
|
NM_001195518.2(MICU1):c.735+1G>A
|
rs369915689
|
0.00002
|
NM_001298.3(CNGA3):c.830G>A (p.Arg277His)
|
rs778114016
|
0.00002
|
NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu)
|
rs267606959
|
0.00002
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs)
|
rs587776416
|
0.00002
|
NM_152419.3(HGSNAT):c.1250+1G>A
|
rs398124544
|
0.00002
|
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)
|
rs564652222
|
0.00001
|
NM_000051.4(ATM):c.7630-2A>C
|
rs587779866
|
0.00001
|
NM_000051.4(ATM):c.902-1G>T
|
rs1064793518
|
0.00001
|
NM_000059.4(BRCA2):c.5164_5165del (p.Ser1722fs)
|
rs80359490
|
0.00001
|
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)
|
rs80359013
|
0.00001
|
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)
|
rs80359075
|
0.00001
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs)
|
rs80359773
|
0.00001
|
NM_000077.5(CDKN2A):c.458-105A>G
|
rs1060501266
|
0.00001
|
NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg)
|
rs767000881
|
0.00001
|
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr)
|
rs80356692
|
0.00001
|
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser)
|
rs72656387
|
0.00001
|
NM_000143.4(FH):c.1189G>A (p.Gly397Arg)
|
rs863224007
|
0.00001
|
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)
|
rs786204645
|
0.00001
|
NM_000152.5(GAA):c.2662G>T (p.Glu888Ter)
|
rs765718882
|
0.00001
|
NM_000166.6(GJB1):c.490C>T (p.Arg164Trp)
|
rs139643362
|
0.00001
|
NM_000166.6(GJB1):c.491G>A (p.Arg164Gln)
|
rs1241595912
|
0.00001
|
NM_000179.3(MSH6):c.651dup (p.Lys218Ter)
|
rs63750955
|
0.00001
|
NM_000188.3(HK1):c.2539G>A (p.Glu847Lys)
|
rs777849213
|
0.00001
|
NM_000203.5(IDUA):c.386-2A>G
|
rs777295041
|
0.00001
|
NM_000218.3(KCNQ1):c.477+5G>A
|
rs397508111
|
0.00001
|
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser)
|
rs199473394
|
0.00001
|
NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys)
|
rs199473457
|
0.00001
|
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)
|
rs63750636
|
0.00001
|
NM_000256.3(MYBPC3):c.821+1G>A
|
rs397516073
|
0.00001
|
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter)
|
rs111033198
|
0.00001
|
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter)
|
rs1324209174
|
0.00001
|
NM_000297.4(PKD2):c.973C>T (p.Arg325Ter)
|
rs1060503526
|
0.00001
|
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)
|
rs121909224
|
0.00001
|
NM_000314.8(PTEN):c.518G>A (p.Arg173His)
|
rs121913294
|
0.00001
|
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)
|
rs61755771
|
0.00001
|
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)
|
rs61755783
|
0.00001
|
NM_000334.4(SCN4A):c.3395G>A (p.Arg1132Gln)
|
rs80338789
|
0.00001
|
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter)
|
rs61750137
|
0.00001
|
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)
|
rs61750146
|
0.00001
|
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr)
|
rs28940879
|
0.00001
|
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys)
|
rs28933697
|
0.00001
|
NM_000455.5(STK11):c.290+1G>A
|
rs1131690950
|
0.00001
|
NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe)
|
rs121909567
|
0.00001
|
NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter)
|
rs77101217
|
0.00001
|
NM_000518.5(HBB):c.25_26del (p.Lys9fs)
|
rs35497102
|
0.00001
|
NM_000518.5(HBB):c.92+5G>C
|
rs33915217
|
0.00001
|
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)
|
rs118192168
|
0.00001
|
NM_000546.6(TP53):c.473G>A (p.Arg158His)
|
rs587782144
|
0.00001
|
NM_000546.6(TP53):c.783-1G>A
|
rs1555525367
|
0.00001
|
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)
|
rs28934574
|
0.00001
|
NM_000551.4(VHL):c.292T>C (p.Tyr98His)
|
rs5030809
|
0.00001
|
NM_000751.3(CHRND):c.234G>A (p.Trp78Ter)
|
rs121909505
|
0.00001
|
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp)
|
rs121909090
|
0.00001
|
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs)
|
rs1555455457
|
0.00001
|
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs)
|
rs267606600
|
0.00001
|
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)
|
rs768638173
|
0.00001
|
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter)
|
rs397514641
|
0.00001
|
NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter)
|
rs119462981
|
0.00001
|
NM_001126108.2(SLC12A3):c.2089_2095del (p.Thr697fs)
|
rs771701344
|
0.00001
|
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter)
|
rs746873768
|
0.00001
|
NM_001174147.2(LMX1B):c.736C>T (p.Arg246Ter)
|
rs1554728698
|
0.00001
|
NM_001370259.2(MEN1):c.1243C>T (p.Arg415Ter)
|
rs1060499974
|
0.00001
|
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe)
|
rs190386869
|
0.00001
|
NM_001371904.1(APOA5):c.427del (p.Arg143fs)
|
rs777046568
|
0.00001
|
NM_001372044.2(SHANK3):c.2455+1G>A
|
rs1396379503
|
0.00001
|
NM_001374385.1(ATP8B1):c.1804C>T (p.Arg602Ter)
|
rs121909105
|
0.00001
|
NM_001393500.2(TOMT):c.143G>A (p.Arg48Gln)
|
rs137853185
|
0.00001
|
NM_002439.5(MSH3):c.1360C>T (p.Arg454Ter)
|
rs539295465
|
0.00001
|
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)
|
rs121918457
|
0.00001
|
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)
|
rs121918459
|
0.00001
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser)
|
rs786201095
|
0.00001
|
NM_003000.3(SDHB):c.725G>A (p.Arg242His)
|
rs74315368
|
0.00001
|
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr)
|
rs80338845
|
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_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter)
|
rs62625308
|
0.00001
|
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)
|
rs80357433
|
0.00001
|
NM_007375.4(TARDBP):c.881G>T (p.Gly294Val)
|
rs80356721
|
0.00001
|
NM_014297.5(ETHE1):c.554T>G (p.Leu185Arg)
|
rs387906987
|
0.00001
|
NM_015937.6(PIGT):c.1079G>T (p.Gly360Val)
|
rs1277383877
|
0.00001
|
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)
|
rs104894078
|
0.00001
|
NM_020442.6(VARS2):c.1010C>T (p.Thr337Ile)
|
rs587777585
|
0.00001
|
NM_020975.6(RET):c.2370G>T (p.Leu790Phe)
|
rs75030001
|
0.00001
|
NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter)
|
rs281865009
|
0.00001
|
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter)
|
rs1290241933
|
0.00001
|
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs)
|
rs587780236
|
0.00001
|
NM_032578.4(MYPN):c.2653C>T (p.Arg885Ter)
|
rs199476412
|
0.00001
|
NM_033337.3(CAV3):c.80G>A (p.Arg27Gln)
|
rs116840778
|
0.00001
|
NM_058216.3(RAD51C):c.905-2_905-1del
|
rs587781995
|
0.00001
|
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)
|
rs781368899
|
0.00001
|
NM_178452.6(DNAAF1):c.792C>A (p.Tyr264Ter)
|
rs267607226
|
0.00001
|
NM_206933.4(USH2A):c.653T>A (p.Val218Glu)
|
rs397518026
|
0.00001
|
NM_213599.3(ANO5):c.1119+1G>T
|
rs762946781
|
0.00001
|
NC_000015.9:g.68504037_68504039delGAT
|
rs121908080
|
|
NC_012920.1(MT-TE):m.14724G>A
|
rs1603224846
|
|
NC_012920.1:m.11778G>A
|
rs199476112
|
|
NC_012920.1:m.14484T>C
|
rs199476104
|
|
NC_012920.1:m.3243A>G
|
rs199474657
|
|
NC_012920.1:m.8993T>G
|
rs199476133
|
|
NC_012920.1:m.9185T>C
|
rs199476138
|
|
NM_000020.3(ACVRL1):c.1377+1G>A
|
rs863223406
|
|
NM_000020.3(ACVRL1):c.924C>A (p.Cys308Ter)
|
rs1555153131
|
|
NM_000021.4(PSEN1):c.617G>A (p.Gly206Asp)
|
rs63750082
|
|
NM_000038.6(APC):c.2626C>T (p.Arg876Ter)
|
rs121913333
|
|
NM_000038.6(APC):c.422+2T>C
|
rs879254169
|
|
NM_000038.6(APC):c.694C>T (p.Arg232Ter)
|
rs397515734
|
|
NM_000044.6(AR):c.329_333del (p.Leu110fs)
|
|
|
NM_000046.5(ARSB):c.1168G>A (p.Glu390Lys)
|
rs1554074132
|
|
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)
|
rs587779817
|
|
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)
|
rs587779834
|
|
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)
|
rs587781831
|
|
NM_000051.4(ATM):c.4587T>G (p.Tyr1529Ter)
|
rs1555100005
|
|
NM_000051.4(ATM):c.4741dup (p.Ile1581fs)
|
rs864622164
|
|
NM_000051.4(ATM):c.5497-2A>C
|
rs786203796
|
|
NM_000051.4(ATM):c.5979_5983del (p.Ser1993fs)
|
rs876660134
|
|
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter)
|
rs375783941
|
|
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter)
|
rs532480170
|
|
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)
|
rs397514577
|
|
NM_000051.4(ATM):c.7010_7011del (p.Cys2337fs)
|
rs864622416
|
|
NM_000051.4(ATM):c.790del (p.Tyr264fs)
|
rs587781978
|
|
NM_000053.4(ATP7B):c.2304dup (p.Met769fs)
|
rs137853287
|
|
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)
|
rs80359351
|
|
NM_000059.3(BRCA2):c.9403del (p.Leu3135fs)
|
rs80359760
|
|
NM_000059.4(BRCA2):c.1813del (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.2424dup (p.Leu809fs)
|
|
|
NM_000059.4(BRCA2):c.289G>T (p.Glu97Ter)
|
rs397507646
|
|
NM_000059.4(BRCA2):c.3199del (p.Thr1067fs)
|
rs80359377
|
|
NM_000059.4(BRCA2):c.3442C>T (p.Gln1148Ter)
|
rs397507667
|
|
NM_000059.4(BRCA2):c.3708dup (p.Ala1237fs)
|
rs34575057
|
|
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs)
|
rs80359403
|
|
NM_000059.4(BRCA2):c.3751dup (p.Thr1251fs)
|
rs397507683
|
|
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)
|
rs80359405
|
|
NM_000059.4(BRCA2):c.3860del (p.Asn1287fs)
|
rs80359406
|
|
NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs)
|
rs397515636
|
|
NM_000059.4(BRCA2):c.3del (p.Met1fs)
|
rs80359418
|
|
NM_000059.4(BRCA2):c.4449del (p.Asp1484fs)
|
rs80359448
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs)
|
rs80359493
|
|
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs)
|
rs80359507
|
|
NM_000059.4(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter)
|
rs276174859
|
|
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)
|
rs41293497
|
|
NM_000059.4(BRCA2):c.635_636del (p.Arg212fs)
|
rs80359575
|
|
NM_000059.4(BRCA2):c.6445_6446del (p.Ser2148_Ile2149insTer)
|
rs80359592
|
|
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs)
|
rs80359598
|
|
NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs)
|
rs80359605
|
|
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter)
|
rs80358893
|
|
NM_000059.4(BRCA2):c.7301del (p.Lys2434fs)
|
rs786202441
|
|
NM_000059.4(BRCA2):c.7436-2A>T
|
rs397507917
|
|
NM_000059.4(BRCA2):c.7471C>T (p.Gln2491Ter)
|
rs80358971
|
|
NM_000059.4(BRCA2):c.7939_7957del (p.Leu2647fs)
|
|
|
NM_000059.4(BRCA2):c.7974C>A (p.Tyr2658Ter)
|
rs80359025
|
|
NM_000059.4(BRCA2):c.8909G>A (p.Trp2970Ter)
|
rs1555288397
|
|
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs)
|
rs397507419
|
|
NM_000059.4(BRCA2):c.9195_9196delinsAT (p.Phe3065_Gln3066delinsLeuTer)
|
rs876659047
|
|
NM_000070.3(CAPN3):c.1322del (p.Gly441fs)
|
rs1555421871
|
|
NM_000070.3(CAPN3):c.550del (p.Thr184fs)
|
rs80338800
|
|
NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del)
|
rs727503837
|
|
NM_000070.3(CAPN3):c.717del (p.Phe239fs)
|
rs776059672
|
|
NM_000077.5(CDKN2A):c.225_243del (p.Ala76fs)
|
rs730881674
|
|
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp)
|
rs104894094
|
|
NM_000083.3(CLCN1):c.1012C>T (p.Arg338Ter)
|
rs759761559
|
|
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)
|
rs768119034
|
|
NM_000083.3(CLCN1):c.220C>T (p.Gln74Ter)
|
rs1554434400
|
|
NM_000083.3(CLCN1):c.2401G>T (p.Glu801Ter)
|
rs1131691551
|
|
NM_000083.3(CLCN1):c.302-1G>A
|
rs529377088
|
|
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser)
|
rs797045032
|
|
NM_000083.3(CLCN1):c.918C>A (p.Phe306Leu)
|
|
|
NM_000088.4(COL1A1):c.3235G>A (p.Gly1079Ser)
|
rs72654802
|
|
NM_000088.4(COL1A1):c.3531+1G>T
|
|
|
NM_000088.4(COL1A1):c.514del (p.Thr172fs)
|
|
|
NM_000088.4(COL1A1):c.658C>T (p.Arg220Ter)
|
rs72667036
|
|
NM_000089.4(COL1A2):c.1018G>C (p.Gly340Arg)
|
|
|
NM_000089.4(COL1A2):c.2673+1G>T
|
|
|
NM_000089.4(COL1A2):c.874G>A (p.Gly292Ser)
|
rs906553840
|
|
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter)
|
rs759873621
|
|
NM_000092.5(COL4A4):c.594+1G>A
|
rs1553690565
|
|
NM_000102.4(CYP17A1):c.1117C>G (p.His373Asp)
|
rs1423560123
|
|
NM_000102.4(CYP17A1):c.438_439del (p.Ile146fs)
|
|
|
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del)
|
rs80358233
|
|
NM_000127.3(EXT1):c.70G>T (p.Gly24Ter)
|
rs1817893036
|
|
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)
|
rs794728195
|
|
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)
|
rs79184941
|
|
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)
|
rs28931614
|
|
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)
|
rs28933068
|
|
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)
|
rs4647924
|
|
NM_000143.4(FH):c.1056dup (p.Leu353fs)
|
rs863224016
|
|
NM_000143.4(FH):c.952C>T (p.His318Tyr)
|
rs398123168
|
|
NM_000146.4(FTL):c.-167C>T
|
rs2038438402
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
NM_000161.3(GCH1):c.626+1G>T
|
rs1555358507
|
|
NM_000162.5(GCK):c.469G>T (p.Glu157Ter)
|
|
|
NM_000166.6(GJB1):c.-17G>A
|
rs879254047
|
|
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp)
|
rs116840819
|
|
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)
|
rs1060501002
|
|
NM_000168.6(GLI3):c.2374C>T (p.Arg792Ter)
|
rs121917714
|
|
NM_000179.3(MSH6):c.1772del (p.Pro591fs)
|
rs786202108
|
|
NM_000179.3(MSH6):c.3142C>T (p.Gln1048Ter)
|
rs200492211
|
|
NM_000179.3(MSH6):c.3261del (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3513_3514del (p.Asp1171fs)
|
rs63750194
|
|
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter)
|
rs267608094
|
|
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter)
|
rs63750019
|
|
NM_000179.3(MSH6):c.742C>T (p.Arg248Ter)
|
rs63749980
|
|
NM_000202.8(IDS):c.867del (p.Val290fs)
|
|
|
NM_000202.8(IDS):c.880-2A>T
|
|
|
NM_000202.8(IDS):c.908_909del (p.Ser303fs)
|
rs193302913
|
|
NM_000214.3(JAG1):c.1899_1900del (p.Cys633_Glu634delinsTer)
|
rs1555828321
|
|
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln)
|
rs199473410
|
|
NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs)
|
rs397508083
|
|
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs)
|
rs397508104
|
|
NM_000231.3(SGCG):c.525del (p.Phe175fs)
|
rs786204786
|
|
NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter)
|
rs189014161
|
|
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)
|
rs28940580
|
|
NM_000249.4(MLH1):c.117-1del
|
|
|
NM_000249.4(MLH1):c.1171C>T (p.Gln391Ter)
|
rs587778894
|
|
NM_000249.4(MLH1):c.1415_1416del (p.Arg472fs)
|
rs281864936
|
|
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter)
|
rs63749795
|
|
NM_000249.4(MLH1):c.1767del (p.Ala589_Leu590insTer)
|
|
|
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)
|
rs63750217
|
|
NM_000249.4(MLH1):c.2103G>C (p.Gln701His)
|
rs63750603
|
|
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)
|
rs63751615
|
|
NM_000251.3(MSH2):c.1138_1153dup (p.Pro385fs)
|
|
|
NM_000251.3(MSH2):c.1258_1259del (p.Ala420fs)
|
|
|
NM_000251.3(MSH2):c.388C>T (p.Gln130Ter)
|
rs1060501989
|
|
NM_000251.3(MSH2):c.943-1G>C
|
rs12476364
|
|
NM_000267.3(NF1):c.6791dup (p.Tyr2264Ter)
|
rs876657715
|
|
NM_000268.4(NF2):c.784C>T (p.Arg262Ter)
|
rs74315496
|
|
NM_000277.3(PAH):c.1199+1G>C
|
rs62509015
|
|
NM_000284.4(PDHA1):c.905G>A (p.Arg302His)
|
rs1064794149
|
|
NM_000297.4(PKD2):c.1047dup (p.Val350fs)
|
rs1578130597
|
|
NM_000297.4(PKD2):c.1998_2001del (p.Phe666fs)
|
rs1720431219
|
|
NM_000297.4(PKD2):c.203dup (p.Ala69fs)
|
rs1187336837
|
|
NM_000297.4(PKD2):c.2407C>T (p.Arg803Ter)
|
rs778235410
|
|
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter)
|
rs755226061
|
|
NM_000307.5(POU3F4):c.607_610del (p.Gln203fs)
|
rs876657719
|
|
NM_000313.4(PROS1):c.1351C>T (p.Arg451Ter)
|
rs5017717
|
|
NM_000314.8(PTEN):c.1007dup (p.Tyr336Ter)
|
rs2132283619
|
|
NM_000314.8(PTEN):c.165-1G>A
|
rs786203847
|
|
NM_000314.8(PTEN):c.202T>C (p.Tyr68His)
|
rs398123317
|
|
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)
|
rs121909219
|
|
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer)
|
rs764771123
|
|
NM_000322.5(PRPH2):c.583C>T (p.Arg195Ter)
|
rs1322278463
|
|
NM_000334.4(SCN4A):c.2023C>G (p.Arg675Gly)
|
rs121908556
|
|
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)
|
rs80338957
|
|
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val)
|
rs80338792
|
|
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met)
|
rs121908547
|
|
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His)
|
rs121908545
|
|
NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met)
|
rs121908548
|
|
NM_000335.5(SCN5A):c.3282G>A (p.Trp1094Ter)
|
rs759924541
|
|
NM_000344.4(SMN1):c.469C>T (p.Gln157Ter)
|
rs1580886973
|
|
NM_000344.4(SMN1):c.821C>T (p.Thr274Ile)
|
rs1554066666
|
|
NM_000350.3(ABCA4):c.2069del (p.Gly690fs)
|
rs2101075191
|
|
NM_000350.3(ABCA4):c.4567C>T (p.Gln1523Ter)
|
rs1553188916
|
|
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)
|
rs61751389
|
|
NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp)
|
rs121909208
|
|
NM_000368.5(TSC1):c.1431_1434del (p.Glu478fs)
|
rs118203527
|
|
NM_000368.5(TSC1):c.1959dup (p.Gln654fs)
|
rs118203603
|
|
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)
|
rs118203631
|
|
NM_000368.5(TSC1):c.2257dup (p.Ser753fs)
|
|
|
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter)
|
rs118203434
|
|
NM_000372.5(TYR):c.286dup (p.Met96fs)
|
rs61753190
|
|
NM_000380.4(XPA):c.520C>T (p.Gln174Ter)
|
|
|
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
|
|
|
NM_000388.4(CASR):c.658C>T (p.Arg220Trp)
|
rs1482119762
|
|
NM_000422.3(KRT17):c.275A>G (p.Asn92Ser)
|
rs59151893
|
|
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)
|
rs202247790
|
|
NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter)
|
rs121913576
|
|
NM_000435.3(NOTCH3):c.1303T>C (p.Cys435Arg)
|
|
|
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys)
|
rs75068032
|
|
NM_000435.3(NOTCH3):c.2963G>A (p.Cys988Tyr)
|
|
|
NM_000435.3(NOTCH3):c.3091C>T (p.Arg1031Cys)
|
rs1285584068
|
|
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.547T>A (p.Cys183Ser)
|
|
|
NM_000435.3(NOTCH3):c.699T>G (p.Cys233Trp)
|
|
|
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)
|
rs111033256
|
|
NM_000444.6(PHEX):c.1645C>T (p.Arg549Ter)
|
rs886041224
|
|
NM_000454.5(SOD1):c.43G>A (p.Val15Met)
|
rs1568807400
|
|
NM_000455.5(STK11):c.540del (p.Asn181fs)
|
rs1131690939
|
|
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer)
|
rs587782504
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.4(CFTR):c.2052del (p.Lys684fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2589_2599del (p.Ile864fs)
|
rs397508400
|
|
NM_000492.4(CFTR):c.3254A>G (p.His1085Arg)
|
rs79635528
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_000516.7(GNAS):c.493C>T (p.Arg165Cys)
|
rs137854532
|
|
NM_000518.5(HBB):c.251del (p.Gly84fs)
|
rs193922555
|
|
NM_000520.6(HEXA):c.1123del (p.Glu375fs)
|
rs766138785
|
|
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
|
|
|
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
|
|
|
NM_000527.5(LDLR):c.1061-2A>G
|
rs879254773
|
|
NM_000527.5(LDLR):c.1061-2A>T
|
|
|
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter)
|
rs267607213
|
|
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
|
|
|
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly)
|
rs879254535
|
|
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
|
|
|
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)
|
rs80338680
|
|
NM_000528.4(MAN2B1):c.624dup (p.Ala209fs)
|
|
|
NM_000531.6(OTC):c.540+265G>A
|
rs1555975756
|
|
NM_000531.6(OTC):c.829C>T (p.Arg277Trp)
|
rs72558454
|
|
NM_000533.5(PLP1):c.191+1G>A
|
rs886039537
|
|
NM_000535.7(PMS2):c.1076dup (p.Leu359fs)
|
rs267608156
|
|
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter)
|
rs587778618
|
|
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)
|
rs201451115
|
|
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs)
|
rs63750695
|
|
NM_000535.7(PMS2):c.703C>T (p.Gln235Ter)
|
rs63750261
|
|
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter)
|
rs587780062
|
|
NM_000540.3(RYR1):c.13013_13032del (p.Ala4338fs)
|
rs193922856
|
|
NM_000540.3(RYR1):c.6811_6836del (p.Thr2271fs)
|
|
|
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter)
|
rs120074127
|
|
NM_000545.8(HNF1A):c.815G>A (p.Arg272His)
|
rs137853238
|
|
NM_000545.8(HNF1A):c.863_864insC (p.Pro289fs)
|
rs766191969
|
|
NM_000546.6(TP53):c.737T>C (p.Met246Thr)
|
rs587780074
|
|
NM_000546.6(TP53):c.842A>G (p.Asp281Gly)
|
rs587781525
|
|
NM_000548.5(TSC2):c.2743-1G>C
|
rs45517263
|
|
NM_000548.5(TSC2):c.4006-1G>A
|
rs1085307853
|
|
NM_000548.5(TSC2):c.4183C>T (p.Gln1395Ter)
|
rs886041772
|
|
NM_000548.5(TSC2):c.656T>C (p.Leu219Pro)
|
rs397515249
|
|
NM_000612.6(IGF2):c.-6-2A>T
|
|
|
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter)
|
rs72551318
|
|
NM_000891.3(KCNJ2):c.902T>G (p.Met301Arg)
|
rs876661184
|
|
NM_000944.5(PPP3CA):c.844G>A (p.Glu282Lys)
|
rs1553923787
|
|
NM_001005242.3(PKP2):c.1211dup (p.Val406fs)
|
rs397516989
|
|
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp)
|
rs121909091
|
|
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His)
|
rs587783595
|
|
NM_001009944.3(PKD1):c.10745dup (p.Val3584fs)
|
rs1555447011
|
|
NM_001009944.3(PKD1):c.2085del (p.Ala696fs)
|
rs1567212531
|
|
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter)
|
rs1555454411
|
|
NM_001009944.3(PKD1):c.6727_6728del (p.Gln2243fs)
|
rs1567191601
|
|
NM_001009944.3(PKD1):c.8017-2A>G
|
rs1567180640
|
|
NM_001009944.3(PKD1):c.8161+1G>T
|
|
|
NM_001009944.3(PKD1):c.8427_8446dup (p.Leu2816fs)
|
|
|
NM_001009996.3(DALRD3):c.1251C>A (p.Tyr417Ter)
|
rs1163930676
|
|
NM_001029896.2(WDR45):c.488del (p.Gly163fs)
|
|
|
NM_001029896.2(WDR45):c.787_790dup (p.Phe264fs)
|
|
|
NM_001032221.6(STXBP1):c.1162C>T (p.Arg388Ter)
|
rs121918321
|
|
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His)
|
rs886041246
|
|
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His)
|
rs796053361
|
|
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs)
|
rs398122960
|
|
NM_001034853.2(RPGR):c.3092del (p.Glu1031fs)
|
rs1186795749
|
|
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln)
|
rs794728721
|
|
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
|
|
|
NM_001042424.3(NSD2):c.1103_1104del (p.Glu368fs)
|
|
|
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs)
|
rs1555610903
|
|
NM_001042492.3(NF1):c.1131del (p.Ile377fs)
|
|
|
NM_001042492.3(NF1):c.1185+1G>A
|
rs864622161
|
|
NM_001042492.3(NF1):c.1260+1604A>G
|
rs1131691067
|
|
NM_001042492.3(NF1):c.1660C>T (p.Gln554Ter)
|
rs953440640
|
|
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg)
|
rs199474760
|
|
NM_001042492.3(NF1):c.2033dup (p.Ile679fs)
|
rs587781807
|
|
NM_001042492.3(NF1):c.2650G>T (p.Glu884Ter)
|
|
|
NM_001042492.3(NF1):c.2970_2972del (p.Met992del)
|
rs267606606
|
|
NM_001042492.3(NF1):c.3113+2T>G
|
rs876658997
|
|
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter)
|
rs199474742
|
|
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter)
|
rs137854560
|
|
NM_001042492.3(NF1):c.4280T>G (p.Leu1427Ter)
|
rs1177433867
|
|
NM_001042492.3(NF1):c.499_502del (p.Cys167fs)
|
rs786201874
|
|
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter)
|
rs876657714
|
|
NM_001042492.3(NF1):c.5610-2A>G
|
rs1135402876
|
|
NM_001042492.3(NF1):c.5665G>T (p.Glu1889Ter)
|
rs764782945
|
|
NM_001042492.3(NF1):c.5693del (p.Leu1898fs)
|
|
|
NM_001042492.3(NF1):c.6516del (p.Ala2173fs)
|
|
|
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter)
|
rs772295894
|
|
NM_001042492.3(NF1):c.6912del (p.Asn2306fs)
|
|
|
NM_001042492.3(NF1):c.7255_7256del (p.Leu2419fs)
|
rs1597858459
|
|
NM_001042492.3(NF1):c.7281del (p.Asp2427fs)
|
rs2070077277
|
|
NM_001042492.3(NF1):c.731-1G>A
|
rs1555608928
|
|
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)
|
rs866445127
|
|
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)
|
rs786201367
|
|
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His)
|
rs143353451
|
|
NM_001083961.2(WDR62):c.1605dup (p.Glu536Ter)
|
|
|
NM_001110792.2(MECP2):c.1143_1234del (p.His382fs)
|
|
|
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)
|
rs61748421
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.842del (p.Gly281fs)
|
rs61750241
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001111067.4(ACVR1):c.617G>A (p.Arg206His)
|
rs121912678
|
|
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs)
|
rs1064794262
|
|
NM_001127222.2(CACNA1A):c.4033C>T (p.Arg1345Ter)
|
rs1568473233
|
|
NM_001128178.3(NPHP1):c.480dup (p.Gly161fs)
|
|
|
NM_001130438.3(SPTAN1):c.6896_6904del (p.Trp2299_Gln2301del)
|
|
|
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser)
|
rs104894519
|
|
NM_001145358.2(SIN3A):c.172_173del (p.Val58fs)
|
|
|
NM_001160372.4(TRAPPC9):c.1840C>T (p.Arg614Ter)
|
|
|
NM_001164508.2(NEB):c.13420C>T (p.Arg4474Ter)
|
rs1578869371
|
|
NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter)
|
|
|
NM_001165963.4(SCN1A):c.2214G>A (p.Trp738Ter)
|
rs786205214
|
|
NM_001165963.4(SCN1A):c.2589+3A>T
|
rs794726775
|
|
NM_001165963.4(SCN1A):c.4581+1G>A
|
rs1689986058
|
|
NM_001165963.4(SCN1A):c.4853-1G>C
|
rs1553520530
|
|
NM_001170629.2(CHD8):c.1473_1477delinsAGGAA (p.Ser491_Val492delinsArgGly)
|
|
|
NM_001170629.2(CHD8):c.4204C>T (p.Arg1402Ter)
|
rs1334692966
|
|
NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp)
|
rs121912585
|
|
NM_001182.5(ALDH7A1):c.500del (p.Pro167fs)
|
|
|
NM_001194998.2(CEP152):c.3948_3949insGGCGCAAATATTATTTG (p.Ile1317delinsGlyAlaAsnIleIleTer)
|
|
|
NM_001194998.2(CEP152):c.467dup (p.Gln157fs)
|
rs1208144689
|
|
NM_001197104.2(KMT2A):c.7144C>T (p.Arg2382Ter)
|
rs387907275
|
|
NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met)
|
rs1553638086
|
|
NM_001244008.2(KIF1A):c.798+1G>C
|
|
|
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)
|
rs587779388
|
|
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs)
|
rs80359870
|
|
NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter)
|
rs534484592
|
|
NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter)
|
rs371678190
|
|
NM_001271.4(CHD2):c.462_470delinsGATGAACAGG (p.Pro155fs)
|
|
|
NM_001282531.3(ADNP):c.2292T>G (p.Tyr764Ter)
|
|
|
NM_001292063.2(OTOG):c.5194C>T (p.Gln1732Ter)
|
|
|
NM_001321075.3(DLG4):c.1195C>T (p.Arg399Ter)
|
rs2069779430
|
|
NM_001347721.2(DYRK1A):c.1114_1133del (p.Pro372fs)
|
|
|
NM_001347721.2(DYRK1A):c.285C>A (p.Tyr95Ter)
|
rs797044519
|
|
NM_001347721.2(DYRK1A):c.701dup (p.Tyr234Ter)
|
|
|
NM_001348323.3(TRIP12):c.4216-2A>G
|
|
|
NM_001354483.2(CSGALNACT1):c.472C>T (p.Gln158Ter)
|
|
|
NM_001355436.2(SPTB):c.5266C>T (p.Arg1756Ter)
|
rs267607086
|
|
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met)
|
rs1564493599
|
|
NM_001371279.1(REEP1):c.304-2A>G
|
rs387907242
|
|
NM_001371596.2(MFSD8):c.863+1G>A
|
rs200319160
|
|
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys)
|
rs140948465
|
|
NM_001374675.1(HSF4):c.965dup (p.Pro323fs)
|
rs776129797
|
|
NM_001374828.1(ARID1B):c.5636_5639del (p.Glu1879fs)
|
rs1583513256
|
|
NM_001378183.1(PIEZO2):c.1549_1550insC (p.Ser517fs)
|
|
|
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met)
|
rs797044955
|
|
NM_001378454.1(ALMS1):c.805C>T (p.Arg269Ter)
|
rs1426009756
|
|
NM_001379500.1(COL18A1):c.1274_1283del (p.Pro425fs)
|
rs776238441
|
|
NM_001379500.1(COL18A1):c.2673dup (p.Gly892fs)
|
rs749009747
|
|
NM_001567.4(INPPL1):c.3562dup (p.Leu1188fs)
|
|
|
NM_001673.5(ASNS):c.213G>A (p.Trp71Ter)
|
|
|
NM_001844.5(COL2A1):c.1833+1G>A
|
rs1939312423
|
|
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)
|
rs121912874
|
|
NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg)
|
rs797044867
|
|
NM_001848.3(COL6A1):c.930+189C>T
|
rs1556425596
|
|
NM_001904.4(CTNNB1):c.1185+1dup
|
|
|
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter)
|
rs1553631860
|
|
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)
|
rs558269137
|
|
NM_002087.4(GRN):c.709-1G>A
|
rs2143337085
|
|
NM_002250.3(KCNN4):c.1055G>A (p.Arg352His)
|
rs774455945
|
|
NM_002430.3(MN1):c.2464C>T (p.Gln822Ter)
|
|
|
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu)
|
rs397516792
|
|
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)
|
rs397507545
|
|
NM_002834.5(PTPN11):c.226G>C (p.Glu76Gln)
|
rs121918464
|
|
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)
|
rs397507520
|
|
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu)
|
rs397507531
|
|
NM_002834.5(PTPN11):c.855T>G (p.Phe285Leu)
|
rs397516810
|
|
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)
|
rs121918455
|
|
NM_002948.5(RPL15):c.130del (p.Arg44fs)
|
|
|
NM_003000.3(SDHB):c.183T>G (p.Tyr61Ter)
|
rs760169139
|
|
NM_003000.3(SDHB):c.286+1G>A
|
rs786201063
|
|
NM_003000.3(SDHB):c.287-2A>G
|
rs1064794270
|
|
NM_003000.3(SDHB):c.3G>A (p.Met1Ile)
|
rs1131691061
|
|
NM_003002.4(SDHD):c.33C>A (p.Cys11Ter)
|
rs104894309
|
|
NM_003104.6(SORD):c.757del (p.Ala253fs)
|
rs55901542
|
|
NM_003106.4(SOX2):c.70_89del (p.Asn24fs)
|
rs398123693
|
|
NM_003119.4(SPG7):c.2115_2131del (p.Leu706fs)
|
rs748255454
|
|
NM_003238.6(TGFB2):c.896G>A (p.Arg299Gln)
|
rs1057521150
|
|
NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del)
|
rs199476153
|
|
NM_003466.4(PAX8):c.322C>T (p.Arg108Ter)
|
rs104893655
|
|
NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter)
|
rs1057517992
|
|
NM_003482.4(KMT2D):c.177-1G>A
|
|
|
NM_003590.5(CUL3):c.1035_1036dup (p.Leu346fs)
|
|
|
NM_003611.3(OFD1):c.839_840del (p.Lys280fs)
|
|
|
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser)
|
rs878853160
|
|
NM_003919.3(SGCE):c.289C>T (p.Arg97Ter)
|
rs121908489
|
|
NM_003919.3(SGCE):c.483del (p.Ala162fs)
|
|
|
NM_003919.3(SGCE):c.946del (p.Asp316fs)
|
|
|
NM_004004.6(GJB2):c.313_326del (p.Lys105fs)
|
rs111033253
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.399G>A (p.Trp133Ter)
|
|
|
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter)
|
rs111033401
|
|
NM_004006.3(DMD):c.5704_5707del (p.Ser1902fs)
|
rs2097752909
|
|
NM_004006.3(DMD):c.9183G>A (p.Trp3061Ter)
|
rs1556503937
|
|
NM_004006.3(DMD):c.9G>A (p.Trp3Ter)
|
rs398122853
|
|
NM_004130.4(GYG1):c.487del (p.Asp163fs)
|
rs727502871
|
|
NM_004168.4(SDHA):c.1283_1298del (p.Gln428fs)
|
|
|
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro)
|
rs387906661
|
|
NM_004360.5(CDH1):c.1107del (p.Asn369fs)
|
rs1567507138
|
|
NM_004360.5(CDH1):c.1137G>A (p.Thr379=)
|
rs587783050
|
|
NM_004360.5(CDH1):c.1711+1G>C
|
rs886041161
|
|
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del)
|
rs587783502
|
|
NM_004380.3(CREBBP):c.5158T>C (p.Cys1720Arg)
|
rs2051906390
|
|
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro)
|
rs387907170
|
|
NM_004456.5(EZH2):c.1876G>A (p.Val626Met)
|
rs587783625
|
|
NM_004523.4(KIF11):c.2049dup (p.Asn684Ter)
|
|
|
NM_004974.4(KCNA2):c.889C>T (p.Arg297Trp)
|
rs1649473972
|
|
NM_004977.3(KCNC3):c.1259G>A (p.Arg420His)
|
rs104894699
|
|
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)
|
rs104894229
|
|
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)
|
rs281875322
|
|
NM_005378.6(MYCN):c.256G>T (p.Glu86Ter)
|
|
|
NM_005559.4(LAMA1):c.4676del (p.Glu1559fs)
|
rs2057789980
|
|
NM_005559.4(LAMA1):c.4807-2A>G
|
|
|
NM_005609.4(PYGM):c.1A>G (p.Met1Val)
|
rs267606993
|
|
NM_005618.4(DLL1):c.1253_1259del (p.Ala418fs)
|
|
|
NM_005677.4(COLQ):c.444G>A (p.Trp148Ter)
|
rs1369980189
|
|
NM_005802.5(TOPORS):c.2556_2557del (p.Glu852fs)
|
rs527236116
|
|
NM_005857.5(ZMPSTE24):c.533T>A (p.Leu178Ter)
|
|
|
NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs)
|
rs483352911
|
|
NM_006005.3(WFS1):c.1112G>A (p.Trp371Ter)
|
|
|
NM_006005.3(WFS1):c.2643_2644del (p.Phe883fs)
|
rs863224268
|
|
NM_006009.4(TUBA1A):c.352G>A (p.Val118Met)
|
rs863224938
|
|
NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu)
|
rs1565627304
|
|
NM_006017.3(PROM1):c.1902C>G (p.Tyr634Ter)
|
|
|
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met)
|
rs1057519942
|
|
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp)
|
rs121913275
|
|
NM_006516.4(SLC2A1):c.1A>G (p.Met1Val)
|
rs2124478725
|
|
NM_006516.4(SLC2A1):c.667C>T (p.Arg223Trp)
|
rs796053248
|
|
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser)
|
rs121909739
|
|
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)
|
rs80359825
|
|
NM_006517.5(SLC16A2):c.511C>T (p.Arg171Ter)
|
rs1930398120
|
|
NM_006734.4(HIVEP2):c.2827C>T (p.Arg943Ter)
|
rs869312841
|
|
NM_006757.4(TNNT3):c.188G>A (p.Arg63His)
|
rs121434638
|
|
NM_006767.4(LZTR1):c.1893del (p.Lys632fs)
|
|
|
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)
|
rs869320686
|
|
NM_006876.3(B4GAT1):c.864T>A (p.Tyr288Ter)
|
|
|
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu)
|
rs869025194
|
|
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
|
|
|
NM_006940.6(SOX5):c.1136del (p.Ser379fs)
|
|
|
NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln)
|
rs879255626
|
|
NM_007194.4(CHEK2):c.277del (p.Trp93fs)
|
rs786203458
|
|
NM_007194.4(CHEK2):c.444+1G>T
|
rs121908698
|
|
NM_007194.4(CHEK2):c.507del (p.Phe169fs)
|
rs587780183
|
|
NM_007194.4(CHEK2):c.715G>T (p.Glu239Ter)
|
rs121908702
|
|
NM_007289.4(MME):c.467del (p.Pro156fs)
|
rs749320057
|
|
NM_007289.4(MME):c.536-1G>A
|
|
|
NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter)
|
rs80356945
|
|
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs)
|
rs80357664
|
|
NM_007294.4(BRCA1):c.2744_2745del (p.Glu914_Ser915insTer)
|
rs80357540
|
|
NM_007294.4(BRCA1):c.3108dup (p.Lys1037Ter)
|
rs80357841
|
|
NM_007294.4(BRCA1):c.3243_3288dup (p.Ser1097delinsCysTyrAlaTer)
|
rs1555588016
|
|
NM_007294.4(BRCA1):c.3286C>T (p.Gln1096Ter)
|
rs80357485
|
|
NM_007294.4(BRCA1):c.329dup (p.Glu111fs)
|
rs80357604
|
|
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs)
|
rs80357877
|
|
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs)
|
rs80357609
|
|
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)
|
rs80357868
|
|
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs)
|
rs80357711
|
|
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)
|
rs80357260
|
|
NM_007294.4(BRCA1):c.4741G>T (p.Glu1581Ter)
|
rs397509193
|
|
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn)
|
rs80187739
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.5309G>T (p.Gly1770Val)
|
rs863224765
|
|
NM_007294.4(BRCA1):c.543del (p.Glu181fs)
|
|
|
NM_007294.4(BRCA1):c.547+2T>A
|
rs80358047
|
|
NM_007294.4(BRCA1):c.678T>A (p.Cys226Ter)
|
rs397509308
|
|
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)
|
rs80357914
|
|
NM_007294.4(BRCA1):c.81-1G>C
|
rs80358018
|
|
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs)
|
rs80357919
|
|
NM_013254.4(TBK1):c.1349_1352del (p.Ile450fs)
|
rs876657404
|
|
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)
|
rs886041125
|
|
NM_013275.6(ANKRD11):c.3309dup (p.Asp1104fs)
|
rs772267579
|
|
NM_013275.6(ANKRD11):c.4087C>T (p.Arg1363Ter)
|
rs1364690005
|
|
NM_013275.6(ANKRD11):c.6792dup (p.Ala2265fs)
|
rs878855327
|
|
NM_014171.6(CRIPT):c.132del (p.Ala45fs)
|
rs771238795
|
|
NM_014208.3(DSPP):c.2427del (p.Ser809fs)
|
|
|
NM_014363.6(SACS):c.5440_5449del (p.Glu1814fs)
|
rs1566067485
|
|
NM_014874.4(MFN2):c.839G>A (p.Arg280His)
|
rs28940294
|
|
NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter)
|
rs786204126
|
|
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys)
|
rs878854990
|
|
NM_015001.3(SPEN):c.7464dup (p.Ile2489fs)
|
|
|
NM_015100.4(POGZ):c.3424C>T (p.Arg1142Ter)
|
rs773311942
|
|
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs)
|
rs869320764
|
|
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs)
|
rs398124308
|
|
NM_017662.5(TRPM6):c.3158A>G (p.Tyr1053Cys)
|
|
|
NM_017934.7(PHIP):c.4370+1G>A
|
|
|
NM_017934.7(PHIP):c.919_923del (p.Ile307fs)
|
rs771126523
|
|
NM_018294.6(CWF19L1):c.605dup (p.Tyr202Ter)
|
rs1589625941
|
|
NM_018972.4(GDAP1):c.558del (p.Ile186fs)
|
rs770658701
|
|
NM_018972.4(GDAP1):c.579+1G>A
|
rs864622501
|
|
NM_018972.4(GDAP1):c.786del (p.Phe263fs)
|
rs1060500978
|
|
NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs)
|
rs199473693
|
|
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)
|
rs770374710
|
|
NM_020366.4(RPGRIP1):c.3629_3630insG (p.Val1211fs)
|
rs1885757549
|
|
NM_020451.3(SELENON):c.713dup (p.Asn238fs)
|
rs368104077
|
|
NM_020451.3(SELENON):c.997_1000del (p.Val333fs)
|
rs886041686
|
|
NM_020791.4(TAOK1):c.2563del (p.Ala855fs)
|
|
|
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)
|
rs75996173
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg)
|
|
|
NM_021072.4(HCN1):c.1171G>A (p.Gly391Ser)
|
rs1561139569
|
|
NM_021224.6(ZNF462):c.4825dup (p.Ser1609fs)
|
|
|
NM_022455.5(NSD1):c.4365del (p.Asp1456fs)
|
|
|
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter)
|
rs587784173
|
|
NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln)
|
rs587784200
|
|
NM_022464.5(SIL1):c.1312C>T (p.Gln438Ter)
|
rs119456966
|
|
NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs)
|
rs672601359
|
|
NM_023067.4(FOXL2):c.871del (p.His291fs)
|
|
|
NM_023110.3(FGFR1):c.1969dup (p.Thr657fs)
|
|
|
NM_024513.4(FYCO1):c.265_267delinsTGA (p.Arg89Ter)
|
|
|
NM_024529.5(CDC73):c.687_688del (p.Arg229fs)
|
rs760591174
|
|
NM_024675.4(PALB2):c.1547_1548del (p.Arg516fs)
|
rs2142412914
|
|
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)
|
rs180177143
|
|
NM_024675.4(PALB2):c.1919C>A (p.Ser640Ter)
|
rs760094988
|
|
NM_024675.4(PALB2):c.1947dup (p.Glu650fs)
|
rs515726075
|
|
NM_024675.4(PALB2):c.2298_2301del (p.Cys768fs)
|
rs1597089434
|
|
NM_024675.4(PALB2):c.2470dup (p.Cys824fs)
|
rs863224521
|
|
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs)
|
rs587776428
|
|
NM_024675.4(PALB2):c.509_510del (p.Arg170fs)
|
rs515726123
|
|
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)
|
rs180177092
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_024757.5(EHMT1):c.294_297del (p.Arg99fs)
|
|
|
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)
|
rs386834148
|
|
NM_025114.4(CEP290):c.180+1G>A
|
rs758593134
|
|
NM_030632.3(ASXL3):c.3275dup (p.Gly1094fs)
|
|
|
NM_030632.3(ASXL3):c.4211_4212del (p.Thr1404fs)
|
rs1555744175
|
|
NM_030665.4(RAI1):c.1785dup (p.Arg596fs)
|
|
|
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer)
|
rs760551339
|
|
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs)
|
rs786203717
|
|
NM_032634.4(PIGO):c.1810dup (p.Arg604fs)
|
rs774508288
|
|
NM_032790.4(ORAI1):c.290C>G (p.Ser97Cys)
|
rs1555322610
|
|
NM_033305.3(VPS13A):c.7214T>G (p.Leu2405Ter)
|
|
|
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs)
|
rs762292772
|
|
NM_080916.3(DGUOK):c.707+3_707+6del
|
|
|
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln)
|
rs121908375
|
|
NM_130837.3(OPA1):c.112C>T (p.Arg38Ter)
|
rs761460379
|
|
NM_130837.3(OPA1):c.2873_2876del
|
rs80356530
|
|
NM_130837.3(OPA1):c.70dup (p.Ile24fs)
|
|
|
NM_130837.3(OPA1):c.800_801del (p.Lys267fs)
|
rs794727804
|
|
NM_130839.5(UBE3A):c.1407_1408del (p.Asn470fs)
|
rs587784512
|
|
NM_138694.4(PKHD1):c.3228+1G>T
|
rs868673401
|
|
NM_138927.4(SON):c.4480C>T (p.Gln1494Ter)
|
|
|
NM_144773.4(PROKR2):c.58del (p.His20fs)
|
rs587777834
|
|
NM_144997.7(FLCN):c.1285del (p.His429fs)
|
rs80338682
|
|
NM_144997.7(FLCN):c.1285dup (p.His429fs)
|
rs80338682
|
|
NM_144997.7(FLCN):c.250-1G>A
|
rs786202081
|
|
NM_145239.3(PRRT2):c.649C>T (p.Arg217Ter)
|
rs77838305
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter)
|
rs387907126
|
|
NM_152296.5(ATP1A3):c.1807-2A>T
|
|
|
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
|
|
|
NM_170606.3(KMT2C):c.2829_2832dup (p.Val945fs)
|
|
|
NM_172107.4(KCNQ2):c.1302-1G>C
|
rs118192225
|
|
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp)
|
rs773171451
|
|
NM_172107.4(KCNQ2):c.850T>C (p.Tyr284His)
|
|
|
NM_174916.3(UBR1):c.2379+1G>C
|
|
|
NM_177559.3(CSNK2A1):c.127C>T (p.Arg43Ter)
|
|
|
NM_177559.3(CSNK2A1):c.529G>A (p.Gly177Ser)
|
rs1555762734
|
|
NM_178014.4(TUBB):c.895A>G (p.Met299Val)
|
rs587777355
|
|
NM_182931.3(KMT2E):c.3853dup (p.Ser1285fs)
|
|
|
NM_194454.3(KRIT1):c.1267C>T (p.Arg423Ter)
|
rs886039402
|
|
NM_197968.4(ZMYM2):c.2700C>G (p.Tyr900Ter)
|
|
|
NM_198880.3(QRICH1):c.1531C>T (p.Arg511Ter)
|
rs746059690
|
|
NM_206933.4(USH2A):c.14225_14232dup (p.Val4745fs)
|
rs1657036615
|
|
NM_213599.3(ANO5):c.1627dup (p.Met543fs)
|
rs281865480
|
|
NM_213599.3(ANO5):c.191dup (p.Asn64fs)
|
rs137854521
|
|
NM_213599.3(ANO5):c.40G>A (p.Gly14Arg)
|
|
|
m.13513G>A
|
rs267606897
|
|
m.8344A>G
|
rs118192098
|
|