NM_000402.4(G6PD):c.292G>A (p.Val98Met)
|
rs1050828
|
0.03616
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_005105.5(RBM8A):c.-21G>A
|
rs139428292
|
0.01871
|
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_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg)
|
rs61738394
|
0.00532
|
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)
|
rs6445
|
0.00530
|
NM_005105.5(RBM8A):c.67+32G>C
|
rs201779890
|
0.00518
|
NM_000371.4(TTR):c.424G>A (p.Val142Ile)
|
rs76992529
|
0.00501
|
NM_000110.4(DPYD):c.1905+1G>A
|
rs3918290
|
0.00474
|
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_000552.5(VWF):c.2561G>A (p.Arg854Gln)
|
rs41276738
|
0.00377
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
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_003060.4(SLC22A5):c.1463G>A (p.Arg488His)
|
rs28383481
|
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_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)
|
rs149989682
|
0.00304
|
NM_000301.5(PLG):c.112A>G (p.Lys38Glu)
|
rs73015965
|
0.00282
|
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_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys)
|
rs147559466
|
0.00210
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg)
|
rs57443665
|
0.00202
|
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_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_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
0.00181
|
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)
|
rs61751374
|
0.00178
|
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_001111.5(ADAR):c.577C>G (p.Pro193Ala)
|
rs145588689
|
0.00162
|
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_000431.4(MVK):c.1129G>A (p.Val377Ile)
|
rs28934897
|
0.00156
|
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)
|
rs76723693
|
0.00154
|
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_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
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_001041.4(SI):c.1730T>G (p.Val577Gly)
|
rs121912615
|
0.00131
|
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)
|
rs79204362
|
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_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)
|
rs6475
|
0.00117
|
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)
|
rs113994167
|
0.00116
|
NM_206965.2(FTCD):c.1607T>A (p.Leu536Ter)
|
rs149266909
|
0.00116
|
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His)
|
rs34193178
|
0.00110
|
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)
|
rs104893915
|
0.00106
|
NM_000787.4(DBH):c.339+2T>C
|
rs74853476
|
0.00106
|
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)
|
rs121434254
|
0.00105
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
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_000053.4(ATP7B):c.3207C>A (p.His1069Gln)
|
rs76151636
|
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_000155.4(GALT):c.404C>T (p.Ser135Leu)
|
rs111033690
|
0.00094
|
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_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)
|
rs121908140
|
0.00089
|
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_000071.3(CBS):c.833T>C (p.Ile278Thr)
|
rs5742905
|
0.00083
|
NM_194318.4(B3GLCT):c.660+1G>A
|
rs80338851
|
0.00083
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00081
|
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp)
|
rs114368325
|
0.00079
|
NM_000158.4(GBE1):c.691+2T>C
|
rs192044702
|
0.00078
|
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp)
|
rs199422217
|
0.00077
|
NM_002225.5(IVD):c.932C>T (p.Ala311Val)
|
rs28940889
|
0.00077
|
NM_000235.4(LIPA):c.894G>A (p.Gln298=)
|
rs116928232
|
0.00075
|
NM_000016.6(ACADM):c.199T>C (p.Tyr67His)
|
rs121434280
|
0.00073
|
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_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)
|
rs201587138
|
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_004004.6(GJB2):c.269T>C (p.Leu90Pro)
|
rs80338945
|
0.00066
|
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter)
|
rs137852949
|
0.00066
|
NM_000128.4(F11):c.901T>C (p.Phe301Leu)
|
rs121965064
|
0.00065
|
NM_013339.4(ALG6):c.257+5G>A
|
rs199682486
|
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_004278.4(PIGL):c.500T>C (p.Leu167Pro)
|
rs145303331
|
0.00062
|
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser)
|
rs386834233
|
0.00061
|
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu)
|
rs199690076
|
0.00059
|
NM_004004.6(GJB2):c.167del (p.Leu56fs)
|
rs80338942
|
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_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
|
rs148660051
|
0.00056
|
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys)
|
rs61732144
|
0.00055
|
NM_000112.4(SLC26A2):c.-26+2T>C
|
rs386833492
|
0.00055
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)
|
rs74315342
|
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_000298.6(PKLR):c.1529G>A (p.Arg510Gln)
|
rs113403872
|
0.00052
|
NM_001145026.2(PTPRQ):c.1359+2T>C
|
rs377572771
|
0.00052
|
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)
|
rs202088921
|
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_003640.5(ELP1):c.2204+6T>C
|
rs111033171
|
0.00051
|
NM_012144.4(DNAI1):c.48+2dup
|
rs397515363
|
0.00050
|
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00049
|
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys)
|
rs80338794
|
0.00049
|
NM_014324.6(AMACR):c.154T>C (p.Ser52Pro)
|
rs121917814
|
0.00049
|
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)
|
rs137854529
|
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_000402.4(G6PD):c.632A>T (p.Asp211Val)
|
rs5030872
|
0.00048
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
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_145199.3(LIPT1):c.875C>G (p.Ser292Ter)
|
rs137891647
|
0.00047
|
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)
|
rs28933693
|
0.00046
|
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu)
|
rs72554665
|
0.00046
|
NM_000487.6(ARSA):c.465+1G>A
|
rs80338815
|
0.00046
|
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)
|
rs387906309
|
0.00046
|
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)
|
rs28942073
|
0.00046
|
NM_001130987.2(DYSF):c.2697+1G>A
|
rs140108514
|
0.00046
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)
|
rs200179145
|
0.00044
|
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)
|
rs121918170
|
0.00043
|
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)
|
rs201082652
|
0.00043
|
NM_003235.5(TG):c.886C>T (p.Arg296Ter)
|
rs121912648
|
0.00041
|
NM_000277.3(PAH):c.1315+1G>A
|
rs5030861
|
0.00040
|
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_000441.2(SLC26A4):c.626G>T (p.Gly209Val)
|
rs111033303
|
0.00039
|
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)
|
rs121908759
|
0.00039
|
NM_001059.3(TACR3):c.824G>A (p.Trp275Ter)
|
rs144292455
|
0.00039
|
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)
|
rs121909398
|
0.00039
|
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)
|
rs137852700
|
0.00038
|
NM_014249.4(NR2E3):c.119-2A>C
|
rs2723341
|
0.00038
|
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter)
|
rs62637014
|
0.00038
|
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu)
|
rs28940893
|
0.00037
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_000350.3(ABCA4):c.5714+5G>A
|
rs61751407
|
0.00036
|
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys)
|
rs141386891
|
0.00036
|
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)
|
rs28939378
|
0.00036
|
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)
|
rs80338848
|
0.00035
|
NM_000048.4(ASL):c.532G>A (p.Val178Met)
|
rs28941473
|
0.00034
|
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)
|
rs1801175
|
0.00034
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)
|
rs147422190
|
0.00034
|
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=)
|
rs200092283
|
0.00034
|
NM_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00034
|
NM_018122.5(DARS2):c.492+2T>C
|
rs142433332
|
0.00034
|
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)
|
rs75541969
|
0.00033
|
NM_004183.4(BEST1):c.422G>A (p.Arg141His)
|
rs121918284
|
0.00033
|
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)
|
rs75193786
|
0.00032
|
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser)
|
rs61761869
|
0.00031
|
NM_000350.3(ABCA4):c.5461-10T>C
|
rs1800728
|
0.00031
|
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)
|
rs121908096
|
0.00031
|
NM_032601.4(MCEE):c.139C>T (p.Arg47Ter)
|
rs111033538
|
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_001079866.2(BCS1L):c.166C>T (p.Arg56Ter)
|
rs121908576
|
0.00030
|
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)
|
rs200691042
|
0.00030
|
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)
|
rs121908188
|
0.00030
|
NM_000441.2(SLC26A4):c.1001+1G>A
|
rs80338849
|
0.00029
|
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)
|
rs74315457
|
0.00029
|
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)
|
rs113993959
|
0.00029
|
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)
|
rs119103267
|
0.00029
|
NM_017950.4(CCDC40):c.248del (p.Ala83fs)
|
rs397515393
|
0.00029
|
NM_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00029
|
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala)
|
rs28940279
|
0.00028
|
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys)
|
rs121912799
|
0.00028
|
NM_000137.4(FAH):c.1062+5G>A
|
rs80338901
|
0.00028
|
NM_000277.3(PAH):c.1066-11G>A
|
rs5030855
|
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_000100.4(CSTB):c.67-1G>C
|
rs147484110
|
0.00027
|
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser)
|
rs80338709
|
0.00027
|
NM_003907.3(EIF2B5):c.338G>A (p.Arg113His)
|
rs113994049
|
0.00027
|
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser)
|
rs119103251
|
0.00027
|
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)
|
rs28934891
|
0.00026
|
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter)
|
rs80356487
|
0.00026
|
NM_000159.4(GCDH):c.680G>C (p.Arg227Pro)
|
rs121434373
|
0.00026
|
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)
|
rs11549407
|
0.00026
|
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)
|
rs80356491
|
0.00026
|
NM_153240.5(NPHP3):c.2694-2_2694-1del
|
rs751527253
|
0.00026
|
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)
|
rs137853108
|
0.00026
|
NM_000071.3(CBS):c.919G>A (p.Gly307Ser)
|
rs121964962
|
0.00025
|
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter)
|
rs185142838
|
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_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_001918.5(DBT):c.901C>T (p.Arg301Cys)
|
rs185492864
|
0.00025
|
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg)
|
rs121908641
|
0.00025
|
NM_000026.4(ADSL):c.1277G>A (p.Arg426His)
|
rs119450941
|
0.00024
|
NM_000104.4(CYP1B1):c.1064_1076del (p.Arg355fs)
|
rs72549380
|
0.00024
|
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)
|
rs121912707
|
0.00024
|
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)
|
rs146136265
|
0.00024
|
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg)
|
rs137852959
|
0.00024
|
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys)
|
rs121918221
|
0.00024
|
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val)
|
rs137852849
|
0.00024
|
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)
|
rs121918167
|
0.00023
|
NM_000277.3(PAH):c.165T>G (p.Phe55Leu)
|
rs199475598
|
0.00023
|
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)
|
rs61750130
|
0.00023
|
NM_000098.3(CPT2):c.149C>A (p.Pro50His)
|
rs28936375
|
0.00022
|
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00022
|
NM_000352.6(ABCC8):c.560T>A (p.Val187Asp)
|
rs137852672
|
0.00022
|
NM_000375.3(UROS):c.217T>C (p.Cys73Arg)
|
rs121908012
|
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_001918.5(DBT):c.670G>T (p.Glu224Ter)
|
rs74103423
|
0.00022
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg)
|
rs137852988
|
0.00022
|
NM_152743.4(BRAT1):c.294dup (p.Leu99fs)
|
rs776913277
|
0.00022
|
NM_000136.3(FANCC):c.456+4A>T
|
rs104886456
|
0.00021
|
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)
|
rs104894636
|
0.00021
|
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val)
|
rs121918252
|
0.00021
|
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val)
|
rs199897298
|
0.00021
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
NM_000283.4(PDE6B):c.1860del (p.His620fs)
|
rs769671323
|
0.00021
|
NM_000520.6(HEXA):c.1073+1G>A
|
rs76173977
|
0.00021
|
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)
|
rs397515540
|
0.00021
|
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
|
rs80338948
|
0.00021
|
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr)
|
rs199877522
|
0.00021
|
NM_000157.4(GBA1):c.1342G>C (p.Asp448His)
|
rs1064651
|
0.00020
|
NM_000277.3(PAH):c.143T>C (p.Leu48Ser)
|
rs5030841
|
0.00020
|
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp)
|
rs376103091
|
0.00020
|
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)
|
rs201502401
|
0.00020
|
NM_000023.4(SGCA):c.739G>A (p.Val247Met)
|
rs143570936
|
0.00019
|
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_000159.4(GCDH):c.1204C>T (p.Arg402Trp)
|
rs121434369
|
0.00019
|
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)
|
rs150518260
|
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_000441.2(SLC26A4):c.412G>T (p.Val138Phe)
|
rs111033199
|
0.00019
|
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)
|
rs77010898
|
0.00019
|
NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr)
|
rs181949335
|
0.00019
|
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu)
|
rs149095128
|
0.00018
|
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys)
|
rs55989760
|
0.00018
|
NM_000159.4(GCDH):c.1213A>G (p.Met405Val)
|
rs141437721
|
0.00018
|
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)
|
rs61751408
|
0.00018
|
NM_000372.5(TYR):c.242C>T (p.Pro81Leu)
|
rs28940876
|
0.00018
|
NM_000441.2(SLC26A4):c.919-2A>G
|
rs111033313
|
0.00018
|
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)
|
rs72552778
|
0.00018
|
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp)
|
rs62638191
|
0.00018
|
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met)
|
rs114269482
|
0.00018
|
NM_017433.5(MYO3A):c.2506-1G>A
|
rs201023600
|
0.00018
|
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_000155.4(GALT):c.855G>T (p.Lys285Asn)
|
rs111033773
|
0.00017
|
NM_000392.5(ABCC2):c.3258+1G>A
|
rs762243203
|
0.00017
|
NM_001363711.2(DUOX2):c.1588A>T (p.Lys530Ter)
|
rs180671269
|
0.00017
|
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys)
|
rs371024165
|
0.00017
|
NM_005142.3(CBLIF):c.79+1G>A
|
rs147785187
|
0.00017
|
NM_006214.4(PHYH):c.135-2A>G
|
rs201578674
|
0.00017
|
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp)
|
rs121918222
|
0.00017
|
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile)
|
rs121908524
|
0.00016
|
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)
|
rs147764579
|
0.00016
|
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)
|
rs104894423
|
0.00016
|
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)
|
rs9332964
|
0.00016
|
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)
|
rs61750152
|
0.00016
|
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)
|
rs139468767
|
0.00016
|
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)
|
rs80034486
|
0.00016
|
NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp)
|
rs202247823
|
0.00016
|
NM_001370658.1(BTD):c.410G>A (p.Arg137His)
|
rs146015592
|
0.00016
|
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)
|
rs145226920
|
0.00016
|
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)
|
rs111033294
|
0.00016
|
NM_004826.4(ECEL1):c.997C>T (p.Arg333Ter)
|
rs370167241
|
0.00016
|
NM_014384.3(ACAD8):c.1129G>A (p.Gly377Ser)
|
rs121908419
|
0.00016
|
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)
|
rs201725369
|
0.00016
|
NM_000048.4(ASL):c.857A>G (p.Gln286Arg)
|
rs28941472
|
0.00015
|
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu)
|
rs28940574
|
0.00015
|
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val)
|
rs193922103
|
0.00015
|
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)
|
rs141656719
|
0.00015
|
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)
|
rs138504221
|
0.00015
|
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)
|
rs121907954
|
0.00015
|
NM_001134665.3(TRMT10A):c.79G>T (p.Glu27Ter)
|
rs142895837
|
0.00015
|
NM_002437.5(MPV17):c.461+2T>C
|
rs138199394
|
0.00015
|
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)
|
rs79436363
|
0.00015
|
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter)
|
rs398124598
|
0.00015
|
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)
|
rs138945081
|
0.00014
|
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln)
|
rs80338802
|
0.00014
|
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)
|
rs104893924
|
0.00014
|
NM_000159.4(GCDH):c.1240G>A (p.Glu414Lys)
|
rs147611168
|
0.00014
|
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile)
|
rs757475924
|
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_000329.3(RPE65):c.11+5G>A
|
rs61751276
|
0.00014
|
NM_000360.4(TH):c.605G>A (p.Arg202His)
|
rs80338892
|
0.00014
|
NM_000372.5(TYR):c.1467dup (p.Ala490fs)
|
rs61754399
|
0.00014
|
NM_000642.3(AGL):c.256C>T (p.Gln86Ter)
|
rs193186112
|
0.00014
|
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg)
|
rs142808899
|
0.00014
|
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys)
|
rs398123546
|
0.00014
|
NM_014384.3(ACAD8):c.384G>A (p.Met128Ile)
|
rs374317179
|
0.00014
|
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln)
|
rs119103219
|
0.00014
|
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)
|
rs28941784
|
0.00014
|
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys)
|
rs142073798
|
0.00014
|
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)
|
rs121434274
|
0.00013
|
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)
|
rs137852623
|
0.00013
|
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln)
|
rs376107921
|
0.00013
|
NM_000169.3(GLA):c.1088G>A (p.Arg363His)
|
rs111422676
|
0.00013
|
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter)
|
rs104894591
|
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_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)
|
rs137852870
|
0.00013
|
NM_001048174.2(MUTYH):c.849+3A>C
|
rs587780751
|
0.00013
|
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs)
|
rs886041302
|
0.00013
|
NM_001126128.2(PROK2):c.163del (p.Ser54_Ile55insTer)
|
rs554675432
|
0.00013
|
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)
|
rs121907899
|
0.00013
|
NM_002225.5(IVD):c.358G>A (p.Gly120Arg)
|
rs142761835
|
0.00013
|
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)
|
rs104894398
|
0.00013
|
NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs)
|
rs746636748
|
0.00013
|
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter)
|
rs13447324
|
0.00013
|
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter)
|
rs121918226
|
0.00013
|
NM_018076.5(ODAD2):c.1669G>T (p.Glu557Ter)
|
rs145742175
|
0.00013
|
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter)
|
rs201599657
|
0.00013
|
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)
|
rs137853137
|
0.00013
|
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)
|
rs62645748
|
0.00013
|
NM_213599.3(ANO5):c.1960C>T (p.Arg654Ter)
|
rs1488095558
|
0.00013
|
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter)
|
rs104893919
|
0.00012
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
NM_000402.4(G6PD):c.1478G>A (p.Arg493His)
|
rs72554664
|
0.00012
|
NM_000404.4(GLB1):c.622C>T (p.Arg208Cys)
|
rs72555366
|
0.00012
|
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)
|
rs74597325
|
0.00012
|
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys)
|
rs80338856
|
0.00012
|
NM_004260.4(RECQL4):c.2464-1G>C
|
rs398124117
|
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_000157.4(GBA1):c.680A>G (p.Asn227Ser)
|
rs364897
|
0.00011
|
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr)
|
rs121434371
|
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_000288.4(PEX7):c.903+1G>C
|
rs148591292
|
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_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)
|
rs121918244
|
0.00011
|
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)
|
rs199422209
|
0.00011
|
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)
|
rs138818907
|
0.00011
|
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)
|
rs80338686
|
0.00011
|
NM_001918.5(DBT):c.827T>G (p.Phe276Cys)
|
rs121964999
|
0.00011
|
NM_002905.5(RDH5):c.839G>A (p.Arg280His)
|
rs62638193
|
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_005422.4(TECTA):c.4085G>A (p.Trp1362Ter)
|
rs199638531
|
0.00011
|
NM_005476.7(GNE):c.1892C>T (p.Ala631Val)
|
rs62541771
|
0.00011
|
NM_005535.3(IL12RB1):c.94C>T (p.Gln32Ter)
|
rs121434492
|
0.00011
|
NM_016180.5(SLC45A2):c.264del (p.Gly89fs)
|
rs775387808
|
0.00011
|
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys)
|
rs74315396
|
0.00011
|
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val)
|
rs77718928
|
0.00010
|
NM_000137.4(FAH):c.554-1G>T
|
rs80338895
|
0.00010
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)
|
rs375882485
|
0.00010
|
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)
|
rs104894592
|
0.00010
|
NM_000277.3(PAH):c.533A>G (p.Glu178Gly)
|
rs77958223
|
0.00010
|
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)
|
rs5030851
|
0.00010
|
NM_000286.3(PEX12):c.681-2A>C
|
rs187526749
|
0.00010
|
NM_000392.5(ABCC2):c.2302C>T (p.Arg768Trp)
|
rs56199535
|
0.00010
|
NM_000402.4(G6PD):c.961G>A (p.Val321Met)
|
rs137852327
|
0.00010
|
NM_000426.4(LAMA2):c.4048C>T (p.Arg1350Ter)
|
rs756854513
|
0.00010
|
NM_000540.3(RYR1):c.10348-6C>G
|
rs193922837
|
0.00010
|
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu)
|
rs120074117
|
0.00010
|
NM_001039141.3(TRIOBP):c.1039C>T (p.Arg347Ter)
|
rs118204026
|
0.00010
|
NM_001256317.3(TMPRSS3):c.325C>T (p.Arg109Trp)
|
rs201632198
|
0.00010
|
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)
|
rs104893688
|
0.00010
|
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter)
|
rs113994205
|
0.00010
|
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)
|
rs200198778
|
0.00010
|
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)
|
rs376161880
|
0.00010
|
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)
|
rs121908177
|
0.00010
|
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs)
|
rs746838237
|
0.00010
|
NM_176787.5(PIGN):c.548_549+6del
|
rs779636222
|
0.00010
|
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)
|
rs79761867
|
0.00010
|
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser)
|
rs137854526
|
0.00010
|
NM_000018.4(ACADVL):c.520G>A (p.Val174Met)
|
rs369560930
|
0.00009
|
NM_000053.4(ATP7B):c.2336G>A (p.Trp779Ter)
|
rs137853283
|
0.00009
|
NM_000070.3(CAPN3):c.2361_2362insTC (p.Arg788fs)
|
rs761897806
|
0.00009
|
NM_000070.3(CAPN3):c.2362_2363insTC (p.Arg788fs)
|
rs80338804
|
0.00009
|
NM_000152.5(GAA):c.1979G>A (p.Arg660His)
|
rs374143224
|
0.00009
|
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu)
|
rs121913578
|
0.00009
|
NM_000277.3(PAH):c.117C>G (p.Phe39Leu)
|
rs62642926
|
0.00009
|
NM_000277.3(PAH):c.721C>T (p.Arg241Cys)
|
rs76687508
|
0.00009
|
NM_000277.3(PAH):c.838G>A (p.Glu280Lys)
|
rs62508698
|
0.00009
|
NM_000392.5(ABCC2):c.2901C>A (p.Tyr967Ter)
|
rs17222547
|
0.00009
|
NM_000492.4(CFTR):c.2657+2_2657+3insA
|
rs397508414
|
0.00009
|
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys)
|
rs118204443
|
0.00009
|
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro)
|
rs398123508
|
0.00009
|
NM_000784.4(CYP27A1):c.1184+1G>A
|
rs587778777
|
0.00009
|
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)
|
rs200440467
|
0.00009
|
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter)
|
rs199947197
|
0.00009
|
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met)
|
rs80338853
|
0.00009
|
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr)
|
rs121909100
|
0.00009
|
NM_001378609.3(OTOGL):c.1940G>A (p.Trp647Ter)
|
rs377708973
|
0.00009
|
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys)
|
rs60376624
|
0.00009
|
NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter)
|
rs137853907
|
0.00009
|
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His)
|
rs536758576
|
0.00009
|
NM_015311.3(OBSL1):c.1273dup (p.Thr425fs)
|
rs762334954
|
0.00009
|
NM_020533.3(MCOLN1):c.406-2A>G
|
rs104886461
|
0.00009
|
NM_024312.5(GNPTAB):c.1123C>T (p.Arg375Ter)
|
rs397507447
|
0.00009
|
NM_025114.4(CEP290):c.4437+1G>A
|
rs760915898
|
0.00009
|
NM_031433.4(MFRP):c.491_492insT (p.Asn167fs)
|
rs730882143
|
0.00009
|
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro)
|
rs137852850
|
0.00009
|
NM_213599.3(ANO5):c.1898+1G>A
|
rs142027093
|
0.00009
|
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp)
|
rs991104525
|
0.00008
|
NM_000048.4(ASL):c.446+1G>A
|
rs142637046
|
0.00008
|
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys)
|
rs149914792
|
0.00008
|
NM_000071.3(CBS):c.1224-2A>C
|
rs375846341
|
0.00008
|
NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His)
|
rs56010818
|
0.00008
|
NM_000126.4(ETFA):c.797C>T (p.Thr266Met)
|
rs119458970
|
0.00008
|
NM_000152.5(GAA):c.853C>T (p.Pro285Ser)
|
rs886042086
|
0.00008
|
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)
|
rs199801029
|
0.00008
|
NM_000235.4(LIPA):c.398del (p.Leu132_Ser133insTer)
|
rs756016704
|
0.00008
|
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro)
|
rs62508646
|
0.00008
|
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)
|
rs5030856
|
0.00008
|
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)
|
rs61750200
|
0.00008
|
NM_000492.4(CFTR):c.1585-1G>A
|
rs76713772
|
0.00008
|
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe)
|
rs118204438
|
0.00008
|
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter)
|
rs200056620
|
0.00008
|
NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp)
|
rs62641228
|
0.00008
|
NM_001277115.2(DNAH11):c.6727C>T (p.Arg2243Ter)
|
rs201943194
|
0.00008
|
NM_001298.3(CNGA3):c.667C>T (p.Arg223Trp)
|
rs138958917
|
0.00008
|
NM_001378615.1(CC2D2A):c.1017+1G>A
|
rs200407856
|
0.00008
|
NM_001849.4(COL6A2):c.1970-9G>A
|
rs747900252
|
0.00008
|
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg)
|
rs375401970
|
0.00008
|
NM_002617.4(PEX10):c.704dup (p.Leu236fs)
|
rs61750435
|
0.00008
|
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)
|
rs139590686
|
0.00008
|
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter)
|
rs104894407
|
0.00008
|
NM_004820.5(CYP7B1):c.825T>A (p.Tyr275Ter)
|
rs121908613
|
0.00008
|
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser)
|
rs119103213
|
0.00008
|
NM_182916.3(TRNT1):c.668T>C (p.Ile223Thr)
|
rs370011798
|
0.00008
|
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)
|
rs121912600
|
0.00008
|
NM_000016.6(ACADM):c.583G>A (p.Gly195Arg)
|
rs121434278
|
0.00007
|
NM_000022.4(ADA):c.320T>C (p.Leu107Pro)
|
rs121908739
|
0.00007
|
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe)
|
rs121918181
|
0.00007
|
NM_000232.5(SGCB):c.31C>T (p.Gln11Ter)
|
rs752492870
|
0.00007
|
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)
|
rs104895085
|
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_000277.3(PAH):c.896T>G (p.Phe299Cys)
|
rs62642933
|
0.00007
|
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr)
|
rs749909863
|
0.00007
|
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser)
|
rs80338862
|
0.00007
|
NM_001370658.1(BTD):c.566G>A (p.Arg189His)
|
rs398123139
|
0.00007
|
NM_004453.4(ETFDH):c.51dup (p.Ala18fs)
|
rs796051964
|
0.00007
|
NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter)
|
rs200737038
|
0.00007
|
NM_005609.4(PYGM):c.1768+1G>A
|
rs771427957
|
0.00007
|
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter)
|
rs200667343
|
0.00007
|
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)
|
rs189150283
|
0.00007
|
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)
|
rs121918243
|
0.00007
|
NM_020745.4(AARS2):c.595C>T (p.Arg199Cys)
|
rs200105202
|
0.00007
|
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter)
|
rs80358638
|
0.00006
|
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)
|
rs200646556
|
0.00006
|
NM_000070.3(CAPN3):c.1435A>G (p.Ser479Gly)
|
rs201736037
|
0.00006
|
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)
|
rs121434548
|
0.00006
|
NM_000128.4(F11):c.1288G>A (p.Ala430Thr)
|
rs753909969
|
0.00006
|
NM_000137.4(FAH):c.782C>T (p.Pro261Leu)
|
rs80338898
|
0.00006
|
NM_000152.5(GAA):c.655G>A (p.Gly219Arg)
|
rs370950728
|
0.00006
|
NM_000155.4(GALT):c.584T>C (p.Leu195Pro)
|
rs111033728
|
0.00006
|
NM_000157.4(GBA1):c.115+1G>A
|
rs104886460
|
0.00006
|
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)
|
rs80356771
|
0.00006
|
NM_000157.4(GBA1):c.1604G>A (p.Arg535His)
|
rs75822236
|
0.00006
|
NM_000157.4(GBA1):c.84dup (p.Leu29fs)
|
rs387906315
|
0.00006
|
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg)
|
rs372983141
|
0.00006
|
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter)
|
rs763494292
|
0.00006
|
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)
|
rs28940578
|
0.00006
|
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)
|
rs80358254
|
0.00006
|
NM_000283.4(PDE6B):c.892C>T (p.Gln298Ter)
|
rs121918579
|
0.00006
|
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)
|
rs61751402
|
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_000372.5(TYR):c.896G>A (p.Arg299His)
|
rs61754375
|
0.00006
|
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter)
|
rs72547561
|
0.00006
|
NM_000392.5(ABCC2):c.974C>G (p.Ser325Ter)
|
rs371866713
|
0.00006
|
NM_000426.4(LAMA2):c.5260del (p.Lys1753_Val1754insTer)
|
rs794727594
|
0.00006
|
NM_000463.3(UGT1A1):c.864+1G>C
|
rs587776764
|
0.00006
|
NM_000466.3(PEX1):c.2926+1G>A
|
rs267608179
|
0.00006
|
NM_000486.6(AQP2):c.763C>T (p.Gln255Ter)
|
rs370879515
|
0.00006
|
NM_000487.6(ARSA):c.641C>T (p.Ala214Val)
|
rs74315467
|
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.254G>A (p.Gly85Glu)
|
rs75961395
|
0.00006
|
NM_000492.4(CFTR):c.2657+5G>A
|
rs80224560
|
0.00006
|
NM_000492.4(CFTR):c.3140-26A>G
|
rs76151804
|
0.00006
|
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys)
|
rs78194216
|
0.00006
|
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)
|
rs78769542
|
0.00006
|
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys)
|
rs118204437
|
0.00006
|
NM_000642.3(AGL):c.2590C>T (p.Arg864Ter)
|
rs113994130
|
0.00006
|
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter)
|
rs267606640
|
0.00006
|
NM_000642.3(AGL):c.4260-12A>G
|
rs369973784
|
0.00006
|
NM_001023570.4(IQCB1):c.1090C>T (p.Arg364Ter)
|
rs727503968
|
0.00006
|
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)
|
rs121908958
|
0.00006
|
NM_001159773.2(CANT1):c.277_278del (p.Leu93fs)
|
rs587776897
|
0.00006
|
NM_001171.6(ABCC6):c.3413G>A (p.Arg1138Gln)
|
rs60791294
|
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_001363118.2(SLC52A2):c.916G>A (p.Gly306Arg)
|
rs398124641
|
0.00006
|
NM_001374385.1(ATP8B1):c.923G>T (p.Gly308Val)
|
rs111033609
|
0.00006
|
NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter)
|
rs377177061
|
0.00006
|
NM_001384474.1(LOXHD1):c.4376-2A>G
|
rs886043616
|
0.00006
|
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu)
|
rs80356779
|
0.00006
|
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu)
|
rs267607258
|
0.00006
|
NM_002617.4(PEX10):c.814_815del (p.Leu272fs)
|
rs61752093
|
0.00006
|
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu)
|
rs144547521
|
0.00006
|
NM_003742.4(ABCB11):c.2012-8T>G
|
rs769910565
|
0.00006
|
NM_004320.6(ATP2A1):c.2774dup (p.Met925fs)
|
rs398124555
|
0.00006
|
NM_004453.4(ETFDH):c.1367C>T (p.Pro456Leu)
|
rs398124152
|
0.00006
|
NM_012434.5(SLC17A5):c.533del (p.Thr178fs)
|
rs727504156
|
0.00006
|
NM_014425.5(INVS):c.1453del (p.Gln485fs)
|
rs753348470
|
0.00006
|
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)
|
rs370596113
|
0.00006
|
NM_015634.4(KIFBP):c.599C>A (p.Ser200Ter)
|
rs730882150
|
0.00006
|
NM_016373.4(WWOX):c.749C>G (p.Ser250Ter)
|
rs368928190
|
0.00006
|
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg)
|
rs119103212
|
0.00006
|
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln)
|
rs121908185
|
0.00006
|
NM_022464.5(SIL1):c.1030-9G>A
|
rs370290043
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_031433.4(MFRP):c.642-2A>G
|
rs376898612
|
0.00006
|
NM_138691.3(TMC1):c.1165C>T (p.Arg389Ter)
|
rs151001642
|
0.00006
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
NM_152732.5(RSPH9):c.466C>T (p.Arg156Ter)
|
rs376496894
|
0.00006
|
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His)
|
rs371518124
|
0.00006
|
NM_199242.3(UNC13D):c.1389+1G>A
|
rs777759523
|
0.00006
|
NM_206933.4(USH2A):c.1036A>C (p.Asn346His)
|
rs369522997
|
0.00006
|
NM_206933.4(USH2A):c.12295-3T>A
|
rs111033518
|
0.00006
|
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
|
rs201527662
|
0.00006
|
NM_213599.3(ANO5):c.41-1G>A
|
rs398124625
|
0.00006
|
NM_000026.4(ADSL):c.907C>T (p.Arg303Cys)
|
rs373458753
|
0.00005
|
NM_000048.4(ASL):c.544C>T (p.Arg182Ter)
|
rs398123126
|
0.00005
|
NM_000053.4(ATP7B):c.2123T>C (p.Leu708Pro)
|
rs121908000
|
0.00005
|
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser)
|
rs137853285
|
0.00005
|
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)
|
rs200379491
|
0.00005
|
NM_000070.3(CAPN3):c.258dup (p.Leu87fs)
|
rs753360208
|
0.00005
|
NM_000155.4(GALT):c.253-2A>G
|
rs111033661
|
0.00005
|
NM_000158.4(GBE1):c.1544G>A (p.Arg515His)
|
rs201958741
|
0.00005
|
NM_000169.3(GLA):c.640-801G>A
|
rs199473684
|
0.00005
|
NM_000182.5(HADHA):c.180+3A>G
|
rs781222705
|
0.00005
|
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter)
|
rs727504020
|
0.00005
|
NM_000277.3(PAH):c.1162G>A (p.Val388Met)
|
rs62516101
|
0.00005
|
NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp)
|
rs121909205
|
0.00005
|
NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr)
|
rs61751384
|
0.00005
|
NM_000404.4(GLB1):c.602G>A (p.Arg201His)
|
rs189115557
|
0.00005
|
NM_000448.3(RAG1):c.256_257del (p.Lys86fs)
|
rs772962160
|
0.00005
|
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)
|
rs61750418
|
0.00005
|
NM_000512.5(GALNS):c.1559G>A (p.Trp520Ter)
|
rs372893383
|
0.00005
|
NM_000518.5(HBB):c.92+1G>A
|
rs33971440
|
0.00005
|
NM_000520.6(HEXA):c.533G>A (p.Arg178His)
|
rs28941770
|
0.00005
|
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu)
|
rs374722096
|
0.00005
|
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter)
|
rs121434420
|
0.00005
|
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs)
|
rs398123799
|
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_001278716.2(FBXL4):c.64C>T (p.Arg22Ter)
|
rs200440128
|
0.00005
|
NM_001374385.1(ATP8B1):c.2286-2A>G
|
rs377132123
|
0.00005
|
NM_002863.5(PYGL):c.1947C>A (p.Tyr649Ter)
|
rs150547274
|
0.00005
|
NM_003060.4(SLC22A5):c.51C>G (p.Phe17Leu)
|
rs11568520
|
0.00005
|
NM_014425.5(INVS):c.2782C>T (p.Arg928Ter)
|
rs376879175
|
0.00005
|
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)
|
rs121918203
|
0.00005
|
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter)
|
rs544349961
|
0.00005
|
NM_021957.4(GYS2):c.547C>T (p.Gln183Ter)
|
rs201157731
|
0.00005
|
NM_032383.5(HPS3):c.1163+1G>A
|
rs201227603
|
0.00005
|
NM_054012.4(ASS1):c.787G>A (p.Val263Met)
|
rs192838388
|
0.00005
|
NM_080916.3(DGUOK):c.591G>A (p.Gln197=)
|
rs748597500
|
0.00005
|
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs)
|
rs398124502
|
0.00005
|
NM_000019.4(ACAT1):c.444_445del (p.Met148fs)
|
rs727503795
|
0.00004
|
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)
|
rs199524907
|
0.00004
|
NM_000046.5(ARSB):c.971G>T (p.Gly324Val)
|
rs398123125
|
0.00004
|
NM_000051.4(ATM):c.5763-1050A>G
|
rs774925473
|
0.00004
|
NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr)
|
rs60431989
|
0.00004
|
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)
|
rs587779884
|
0.00004
|
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)
|
rs80359212
|
0.00004
|
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp)
|
rs863224959
|
0.00004
|
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu)
|
rs886042478
|
0.00004
|
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp)
|
rs528417986
|
0.00004
|
NM_000082.4(ERCC8):c.300C>G (p.Tyr100Ter)
|
rs143367518
|
0.00004
|
NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter)
|
rs906755254
|
0.00004
|
NM_000128.4(F11):c.400C>T (p.Gln134Ter)
|
rs756908183
|
0.00004
|
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)
|
rs140826989
|
0.00004
|
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro)
|
rs779556619
|
0.00004
|
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer)
|
rs781088002
|
0.00004
|
NM_000152.5(GAA):c.784G>A (p.Glu262Lys)
|
rs201896815
|
0.00004
|
NM_000153.4(GALC):c.1592G>A (p.Arg531His)
|
rs200378205
|
0.00004
|
NM_000155.4(GALT):c.512T>C (p.Phe171Ser)
|
rs111033715
|
0.00004
|
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln)
|
rs78973108
|
0.00004
|
NM_000182.5(HADHA):c.919-2A>G
|
rs200017313
|
0.00004
|
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln)
|
rs121964997
|
0.00004
|
NM_000191.3(HMGCL):c.698A>G (p.His233Arg)
|
rs727503963
|
0.00004
|
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter)
|
rs121965031
|
0.00004
|
NM_000231.3(SGCG):c.195+1G>C
|
rs200502077
|
0.00004
|
NM_000232.5(SGCB):c.1_2del (p.Met1fs)
|
rs886042503
|
0.00004
|
NM_000255.4(MMUT):c.278G>A (p.Arg93His)
|
rs121918251
|
0.00004
|
NM_000255.4(MMUT):c.280G>A (p.Gly94Arg)
|
rs727504022
|
0.00004
|
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)
|
rs397516074
|
0.00004
|
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln)
|
rs5030859
|
0.00004
|
NM_000277.3(PAH):c.331C>T (p.Arg111Ter)
|
rs76296470
|
0.00004
|
NM_000277.3(PAH):c.727C>T (p.Arg243Ter)
|
rs5030846
|
0.00004
|
NM_000303.3(PMM2):c.691G>A (p.Val231Met)
|
rs80338707
|
0.00004
|
NM_000310.4(PPT1):c.29T>A (p.Leu10Ter)
|
rs137852699
|
0.00004
|
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter)
|
rs61748550
|
0.00004
|
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr)
|
rs150774447
|
0.00004
|
NM_000359.3(TGM1):c.876+2T>C
|
rs151054393
|
0.00004
|
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)
|
rs121908011
|
0.00004
|
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter)
|
rs62645917
|
0.00004
|
NM_000372.5(TYR):c.832C>T (p.Arg278Ter)
|
rs62645904
|
0.00004
|
NM_000392.5(ABCC2):c.2443C>T (p.Arg815Ter)
|
rs773850184
|
0.00004
|
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp)
|
rs137852331
|
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_000440.3(PDE6A):c.769C>T (p.Arg257Ter)
|
rs146591309
|
0.00004
|
NM_000448.3(RAG1):c.322C>T (p.Arg108Ter)
|
rs193922464
|
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_000487.6(ARSA):c.257G>A (p.Arg86Gln)
|
rs74315458
|
0.00004
|
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe)
|
rs74315456
|
0.00004
|
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)
|
rs368505753
|
0.00004
|
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)
|
rs397508442
|
0.00004
|
NM_000492.4(CFTR):c.2988G>A (p.Gln996=)
|
rs121908797
|
0.00004
|
NM_000492.4(CFTR):c.579+1G>T
|
rs77188391
|
0.00004
|
NM_000512.5(GALNS):c.415G>A (p.Gly139Ser)
|
rs146093755
|
0.00004
|
NM_000520.6(HEXA):c.1496G>A (p.Arg499His)
|
rs121907956
|
0.00004
|
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter)
|
rs121907962
|
0.00004
|
NM_000540.3(RYR1):c.6274+1G>A
|
rs1226228092
|
0.00004
|
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp)
|
rs182812968
|
0.00004
|
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg)
|
rs727504166
|
0.00004
|
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu)
|
rs1057517195
|
0.00004
|
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro)
|
rs120074124
|
0.00004
|
NM_000642.3(AGL):c.3965del (p.Val1322fs)
|
rs113994132
|
0.00004
|
NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter)
|
rs794727208
|
0.00004
|
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn)
|
rs200799769
|
0.00004
|
NM_001126108.2(SLC12A3):c.3026G>A (p.Arg1009Gln)
|
rs370175770
|
0.00004
|
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)
|
rs28931569
|
0.00004
|
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp)
|
rs398123787
|
0.00004
|
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter)
|
rs398123575
|
0.00004
|
NM_001182.5(ALDH7A1):c.834G>A (p.Val278=)
|
rs201948406
|
0.00004
|
NM_001201543.2(FAM161A):c.1003C>T (p.Arg335Ter)
|
rs777678022
|
0.00004
|
NM_001201543.2(FAM161A):c.1501del (p.Cys501fs)
|
rs767414973
|
0.00004
|
NM_001252024.2(TRPM1):c.3064C>T (p.Arg1022Ter)
|
rs369742878
|
0.00004
|
NM_001370658.1(BTD):c.873del (p.Ser291fs)
|
rs397514395
|
0.00004
|
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs)
|
rs387906312
|
0.00004
|
NM_001384732.1(CPLANE1):c.2353C>T (p.Arg785Ter)
|
rs863225163
|
0.00004
|
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met)
|
rs72552732
|
0.00004
|
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys)
|
rs72549395
|
0.00004
|
NM_003907.3(EIF2B5):c.241G>A (p.Glu81Lys)
|
rs113994047
|
0.00004
|
NM_004004.6(GJB2):c.1A>G (p.Met1Val)
|
rs111033293
|
0.00004
|
NM_004260.4(RECQL4):c.2476C>T (p.Arg826Ter)
|
rs386833851
|
0.00004
|
NM_004369.4(COL6A3):c.8966-1G>C
|
rs767517186
|
0.00004
|
NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter)
|
rs398124151
|
0.00004
|
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg)
|
rs398124209
|
0.00004
|
NM_005732.4(RAD50):c.3553C>T (p.Arg1185Ter)
|
rs778555849
|
0.00004
|
NM_006363.6(SEC23B):c.1489C>T (p.Arg497Cys)
|
rs727504145
|
0.00004
|
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)
|
rs28897672
|
0.00004
|
NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs)
|
rs745590426
|
0.00004
|
NM_014780.5(CUL7):c.2164C>T (p.Arg722Ter)
|
rs886042376
|
0.00004
|
NM_016103.4(SAR1B):c.409G>A (p.Asp137Asn)
|
rs28942109
|
0.00004
|
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)
|
rs28940869
|
0.00004
|
NM_017950.4(CCDC40):c.2824_2825insCTGT (p.Arg942fs)
|
rs587778819
|
0.00004
|
NM_020366.4(RPGRIP1):c.1468-2A>G
|
rs751342895
|
0.00004
|
NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter)
|
rs192003551
|
0.00004
|
NM_020366.4(RPGRIP1):c.3749-2A>G
|
rs376517859
|
0.00004
|
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr)
|
rs121908372
|
0.00004
|
NM_020779.4(WDR35):c.1255+1G>A
|
rs371669862
|
0.00004
|
NM_020812.4(DOCK6):c.4491+1G>A
|
rs772543889
|
0.00004
|
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys)
|
rs543163491
|
0.00004
|
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp)
|
rs148374859
|
0.00004
|
NM_025074.7(FRAS1):c.370C>T (p.Arg124Ter)
|
rs377046630
|
0.00004
|
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter)
|
rs370119681
|
0.00004
|
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter)
|
rs121909762
|
0.00004
|
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp)
|
rs376128990
|
0.00004
|
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp)
|
rs121908640
|
0.00004
|
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter)
|
rs398124478
|
0.00004
|
NM_139343.3(BIN1):c.1371+1G>T
|
rs556129959
|
0.00004
|
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)
|
rs137852924
|
0.00004
|
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)
|
rs28940315
|
0.00004
|
NM_170707.4(LMNA):c.1580G>A (p.Arg527His)
|
rs57520892
|
0.00004
|
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met)
|
rs145873635
|
0.00004
|
NM_182961.4(SYNE1):c.15918-12A>G
|
rs606231134
|
0.00004
|
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)
|
rs62636273
|
0.00004
|
NM_206933.4(USH2A):c.908G>A (p.Arg303His)
|
rs371777049
|
0.00004
|
NM_213599.3(ANO5):c.1210C>T (p.Arg404Ter)
|
rs566415362
|
0.00004
|
NM_213599.3(ANO5):c.1213C>T (p.Gln405Ter)
|
rs368970223
|
0.00004
|
NM_000016.6(ACADM):c.157C>T (p.Arg53Cys)
|
rs398123072
|
0.00003
|
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys)
|
rs778906552
|
0.00003
|
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His)
|
rs112406105
|
0.00003
|
NM_000018.4(ACADVL):c.1182+1G>A
|
rs113690956
|
0.00003
|
NM_000023.4(SGCA):c.293G>A (p.Arg98His)
|
rs137852621
|
0.00003
|
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)
|
rs768814872
|
0.00003
|
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)
|
rs143962150
|
0.00003
|
NM_000027.4(AGA):c.319C>T (p.Arg107Ter)
|
rs765070743
|
0.00003
|
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser)
|
rs121907990
|
0.00003
|
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)
|
rs11571658
|
0.00003
|
NM_000070.3(CAPN3):c.1993-1G>A
|
rs369552114
|
0.00003
|
NM_000070.3(CAPN3):c.802-9G>A
|
rs761211705
|
0.00003
|
NM_000071.3(CBS):c.1058C>T (p.Thr353Met)
|
rs121964972
|
0.00003
|
NM_000071.3(CBS):c.374G>A (p.Arg125Gln)
|
rs781444670
|
0.00003
|
NM_000071.3(CBS):c.785C>T (p.Thr262Met)
|
rs149119723
|
0.00003
|
NM_000080.4(CHRNE):c.971del (p.Ile324fs)
|
rs879255562
|
0.00003
|
NM_000082.4(ERCC8):c.1017C>A (p.Cys339Ter)
|
rs753663016
|
0.00003
|
NM_000094.4(COL7A1):c.8440C>T (p.Arg2814Ter)
|
rs143457874
|
0.00003
|
NM_000098.3(CPT2):c.886C>T (p.Arg296Ter)
|
rs727503887
|
0.00003
|
NM_000143.4(FH):c.521C>G (p.Pro174Arg)
|
rs199822819
|
0.00003
|
NM_000143.4(FH):c.698G>A (p.Arg233His)
|
rs121913123
|
0.00003
|
NM_000152.5(GAA):c.1129G>C (p.Gly377Arg)
|
rs752002666
|
0.00003
|
NM_000152.5(GAA):c.1326+1G>A
|
rs1205507761
|
0.00003
|
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)
|
rs780321415
|
0.00003
|
NM_000152.5(GAA):c.307T>G (p.Cys103Gly)
|
rs398123174
|
0.00003
|
NM_000152.5(GAA):c.546G>A (p.Thr182=)
|
rs143523371
|
0.00003
|
NM_000152.5(GAA):c.877G>A (p.Gly293Arg)
|
rs121907945
|
0.00003
|
NM_000152.5(GAA):c.925G>A (p.Gly309Arg)
|
rs543300039
|
0.00003
|
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser)
|
rs752537626
|
0.00003
|
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys)
|
rs111033814
|
0.00003
|
NM_000155.4(GALT):c.292G>A (p.Asp98Asn)
|
rs111033670
|
0.00003
|
NM_000155.4(GALT):c.442C>T (p.Arg148Trp)
|
rs111033693
|
0.00003
|
NM_000155.4(GALT):c.602G>A (p.Arg201His)
|
rs111033735
|
0.00003
|
NM_000157.4(GBA1):c.475C>T (p.Arg159Trp)
|
rs439898
|
0.00003
|
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg)
|
rs61748906
|
0.00003
|
NM_000157.4(GBA1):c.681T>G (p.Asn227Lys)
|
rs381418
|
0.00003
|
NM_000159.4(GCDH):c.1244-2A>C
|
rs199999619
|
0.00003
|
NM_000170.3(GLDC):c.2316-1G>A
|
rs386833554
|
0.00003
|
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys)
|
rs104894639
|
0.00003
|
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)
|
rs121965021
|
0.00003
|
NM_000203.5(IDUA):c.1614del (p.His539fs)
|
rs727503967
|
0.00003
|
NM_000204.5(CFI):c.80_81del (p.Asp27fs)
|
rs886043418
|
0.00003
|
NM_000238.4(KCNH2):c.2587C>T (p.Arg863Ter)
|
rs773724817
|
0.00003
|
NM_000246.4(CIITA):c.2888+1G>A
|
rs372826934
|
0.00003
|
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)
|
rs63750875
|
0.00003
|
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter)
|
rs398123278
|
0.00003
|
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)
|
rs3218716
|
0.00003
|
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His)
|
rs104894590
|
0.00003
|
NM_000277.3(PAH):c.168+5G>C
|
rs62507288
|
0.00003
|
NM_000277.3(PAH):c.250G>T (p.Asp84Tyr)
|
rs62514902
|
0.00003
|
NM_000277.3(PAH):c.311C>A (p.Ala104Asp)
|
rs62642929
|
0.00003
|
NM_000277.3(PAH):c.526C>T (p.Arg176Ter)
|
rs199475575
|
0.00003
|
NM_000277.3(PAH):c.60+5G>T
|
rs62514895
|
0.00003
|
NM_000277.3(PAH):c.745C>T (p.Leu249Phe)
|
rs74503222
|
0.00003
|
NM_000277.3(PAH):c.890G>A (p.Arg297His)
|
rs62642939
|
0.00003
|
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter)
|
rs138149179
|
0.00003
|
NM_000286.3(PEX12):c.126+1G>T
|
rs144259891
|
0.00003
|
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu)
|
rs80338701
|
0.00003
|
NM_000310.4(PPT1):c.529C>G (p.Gln177Glu)
|
rs386833650
|
0.00003
|
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser)
|
rs72547571
|
0.00003
|
NM_000392.5(ABCC2):c.1893C>A (p.Cys631Ter)
|
rs1257076487
|
0.00003
|
NM_000392.5(ABCC2):c.3500dup (p.Ser1168fs)
|
rs1333544687
|
0.00003
|
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)
|
rs5030869
|
0.00003
|
NM_000404.4(GLB1):c.1769G>A (p.Arg590His)
|
rs398123351
|
0.00003
|
NM_000426.4(LAMA2):c.3976C>T (p.Arg1326Ter)
|
rs398123373
|
0.00003
|
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter)
|
rs121908805
|
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.316-106C>G
|
rs34690599
|
0.00003
|
NM_000518.5(HBB):c.51del (p.Lys18fs)
|
rs35662066
|
0.00003
|
NM_000532.5(PCCB):c.1398+1G>T
|
rs794727092
|
0.00003
|
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg)
|
rs120074122
|
0.00003
|
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser)
|
rs587779408
|
0.00003
|
NM_000642.3(AGL):c.16C>T (p.Gln6Ter)
|
rs113994126
|
0.00003
|
NM_000642.3(AGL):c.2681+1G>A
|
rs201201443
|
0.00003
|
NM_000642.3(AGL):c.3652C>T (p.Arg1218Ter)
|
rs771853367
|
0.00003
|
NM_000709.4(BCKDHA):c.288+9C>T
|
rs398123497
|
0.00003
|
NM_000784.4(CYP27A1):c.1263+1G>A
|
rs397515355
|
0.00003
|
NM_000784.4(CYP27A1):c.886C>T (p.Gln296Ter)
|
rs575064188
|
0.00003
|
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp)
|
rs137853859
|
0.00003
|
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)
|
rs104894718
|
0.00003
|
NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu)
|
rs149682171
|
0.00003
|
NM_001077365.2(POMT1):c.2004-1G>C
|
rs745738628
|
0.00003
|
NM_001101426.4(CRPPA):c.643C>T (p.Gln215Ter)
|
rs370627877
|
0.00003
|
NM_001130987.2(DYSF):c.3498T>A (p.Tyr1166Ter)
|
rs758944159
|
0.00003
|
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter)
|
rs727503911
|
0.00003
|
NM_001130987.2(DYSF):c.4802dup (p.Met1601fs)
|
rs778065845
|
0.00003
|
NM_001164508.2(NEB):c.12018+1G>A
|
rs762278237
|
0.00003
|
NM_001267550.2(TTN):c.49648+2del
|
rs727504851
|
0.00003
|
NM_001305581.2(LRMDA):c.256C>T (p.Arg86Ter)
|
rs886043155
|
0.00003
|
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys)
|
rs80338864
|
0.00003
|
NM_001384474.1(LOXHD1):c.442A>T (p.Lys148Ter)
|
rs886044666
|
0.00003
|
NM_001848.3(COL6A1):c.1693C>T (p.Arg565Ter)
|
rs1304888945
|
0.00003
|
NM_001849.4(COL6A2):c.1461del (p.Ser488fs)
|
rs398123645
|
0.00003
|
NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter)
|
rs200089714
|
0.00003
|
NM_002303.6(LEPR):c.93G>A (p.Trp31Ter)
|
rs945135468
|
0.00003
|
NM_002437.5(MPV17):c.149G>A (p.Arg50Gln)
|
rs121909721
|
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_003060.4(SLC22A5):c.424G>T (p.Ala142Ser)
|
rs151231558
|
0.00003
|
NM_003119.4(SPG7):c.637C>T (p.Arg213Ter)
|
rs774774648
|
0.00003
|
NM_003235.5(TG):c.6379C>T (p.Arg2127Ter)
|
rs375424292
|
0.00003
|
NM_003322.6(TULP1):c.725_728del (p.Pro242fs)
|
rs771723580
|
0.00003
|
NM_003742.4(ABCB11):c.2296G>A (p.Gly766Arg)
|
rs763782349
|
0.00003
|
NM_003742.4(ABCB11):c.908+1G>A
|
rs147649016
|
0.00003
|
NM_004004.6(GJB2):c.299_300del (p.His100fs)
|
rs111033204
|
0.00003
|
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)
|
rs773528125
|
0.00003
|
NM_004260.4(RECQL4):c.1259-1G>A
|
rs372380880
|
0.00003
|
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter)
|
rs398124119
|
0.00003
|
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro)
|
rs377686388
|
0.00003
|
NM_004817.4(TJP2):c.1771C>T (p.Arg591Ter)
|
rs764379398
|
0.00003
|
NM_005422.4(TECTA):c.5826C>A (p.Tyr1942Ter)
|
rs955468054
|
0.00003
|
NM_005476.7(GNE):c.175C>T (p.Arg59Ter)
|
rs745517517
|
0.00003
|
NM_005476.7(GNE):c.1844C>G (p.Ser615Ter)
|
rs757523840
|
0.00003
|
NM_005476.7(GNE):c.527A>T (p.Asp176Val)
|
rs139425890
|
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_012123.4(MTO1):c.1282G>A (p.Ala428Thr)
|
rs143747297
|
0.00003
|
NM_013382.7(POMT2):c.1006+1G>A
|
rs533916138
|
0.00003
|
NM_013382.7(POMT2):c.551C>T (p.Thr184Met)
|
rs267606971
|
0.00003
|
NM_014251.3(SLC25A13):c.615+5G>A
|
rs80338717
|
0.00003
|
NM_015102.5(NPHP4):c.2611+1G>A
|
rs374141736
|
0.00003
|
NM_016239.4(MYO15A):c.2629G>T (p.Glu877Ter)
|
rs771720649
|
0.00003
|
NM_016356.5(DCDC2):c.349-2A>G
|
rs760040426
|
0.00003
|
NM_018668.5(VPS33B):c.239+5G>A
|
rs372769808
|
0.00003
|
NM_020166.5(MCCC1):c.1526del (p.Cys509fs)
|
rs727504002
|
0.00003
|
NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter)
|
rs121908373
|
0.00003
|
NM_020549.5(CHAT):c.620G>A (p.Arg207His)
|
rs764497513
|
0.00003
|
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)
|
rs146646971
|
0.00003
|
NM_021939.4(FKBP10):c.1399+2T>G
|
rs886044880
|
0.00003
|
NM_022370.4(ROBO3):c.2427G>A (p.Trp809Ter)
|
rs372821877
|
0.00003
|
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)
|
rs886042153
|
0.00003
|
NM_033629.6(TREX1):c.500del (p.Ser167fs)
|
rs76642637
|
0.00003
|
NM_052845.4(MMAB):c.291-1G>A
|
rs199971687
|
0.00003
|
NM_138694.4(PKHD1):c.10637del (p.Val3546fs)
|
rs770461067
|
0.00003
|
NM_138694.4(PKHD1):c.353del (p.Ser118fs)
|
rs398124483
|
0.00003
|
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs)
|
rs398124572
|
0.00003
|
NM_198525.3(KIF7):c.61C>T (p.Arg21Ter)
|
rs794727316
|
0.00003
|
NM_199242.3(UNC13D):c.753+1G>T
|
rs201908137
|
0.00003
|
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg)
|
rs62636275
|
0.00003
|
NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter)
|
rs398124619
|
0.00003
|
NM_206933.4(USH2A):c.8559-2A>G
|
rs397518039
|
0.00003
|
NM_206933.4(USH2A):c.949C>A (p.Arg317=)
|
rs111033272
|
0.00003
|
NM_213599.3(ANO5):c.2018A>G (p.Tyr673Cys)
|
rs137854527
|
0.00003
|
NM_213599.3(ANO5):c.2176dup (p.Ser726fs)
|
rs797044667
|
0.00003
|
NM_213599.3(ANO5):c.762+1G>A
|
rs372221490
|
0.00003
|
NM_000016.6(ACADM):c.233T>C (p.Ile78Thr)
|
rs398123074
|
0.00002
|
NM_000016.6(ACADM):c.244dup (p.Trp82fs)
|
rs786204566
|
0.00002
|
NM_000016.6(ACADM):c.617G>A (p.Arg206His)
|
rs200724875
|
0.00002
|
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)
|
rs2309689
|
0.00002
|
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)
|
rs758647756
|
0.00002
|
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr)
|
rs118203941
|
0.00002
|
NM_000048.4(ASL):c.637C>T (p.Arg213Ter)
|
rs761651320
|
0.00002
|
NM_000070.3(CAPN3):c.1801-1G>A
|
rs886043752
|
0.00002
|
NM_000070.3(CAPN3):c.2242C>T (p.Arg748Ter)
|
rs768090444
|
0.00002
|
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln)
|
rs587780290
|
0.00002
|
NM_000070.3(CAPN3):c.2440-1G>A
|
rs886044052
|
0.00002
|
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)
|
rs398123151
|
0.00002
|
NM_000071.3(CBS):c.325T>C (p.Cys109Arg)
|
rs778220779
|
0.00002
|
NM_000071.3(CBS):c.430G>A (p.Glu144Lys)
|
rs121964966
|
0.00002
|
NM_000151.4(G6PC1):c.648G>T (p.Leu216=)
|
rs80356484
|
0.00002
|
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp)
|
rs757617999
|
0.00002
|
NM_000153.4(GALC):c.430del (p.Ile144fs)
|
rs775277935
|
0.00002
|
NM_000153.4(GALC):c.628A>T (p.Arg210Ter)
|
rs202131052
|
0.00002
|
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys)
|
rs111033744
|
0.00002
|
NM_000155.4(GALT):c.688-2A>C
|
rs398123185
|
0.00002
|
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg)
|
rs409652
|
0.00002
|
NM_000169.3(GLA):c.335G>A (p.Arg112His)
|
rs372966991
|
0.00002
|
NM_000255.4(MMUT):c.1084-10A>G
|
rs777031588
|
0.00002
|
NM_000271.5(NPC1):c.2830G>A (p.Asp944Asn)
|
rs748837410
|
0.00002
|
NM_000277.3(PAH):c.1066-3C>T
|
rs62507344
|
0.00002
|
NM_000277.3(PAH):c.508C>G (p.His170Asp)
|
rs199475655
|
0.00002
|
NM_000277.3(PAH):c.806del (p.Ile269fs)
|
rs62508687
|
0.00002
|
NM_000277.3(PAH):c.809G>A (p.Arg270Lys)
|
rs62514950
|
0.00002
|
NM_000282.4(PCCA):c.232-1G>A
|
rs794727620
|
0.00002
|
NM_000282.4(PCCA):c.775_779del (p.Leu259fs)
|
rs794726976
|
0.00002
|
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter)
|
rs267608241
|
0.00002
|
NM_000293.3(PHKB):c.1546C>T (p.Gln516Ter)
|
rs758004953
|
0.00002
|
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp)
|
rs137853294
|
0.00002
|
NM_000341.4(SLC3A1):c.1500+1G>T
|
rs886042834
|
0.00002
|
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)
|
rs61749409
|
0.00002
|
NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met)
|
rs201855602
|
0.00002
|
NM_000372.5(TYR):c.1037-2A>G
|
rs748901196
|
0.00002
|
NM_000392.5(ABCC2):c.3463del (p.Thr1155fs)
|
rs919078015
|
0.00002
|
NM_000392.5(ABCC2):c.3538C>T (p.Gln1180Ter)
|
rs183923599
|
0.00002
|
NM_000392.5(ABCC2):c.3811C>T (p.Arg1271Ter)
|
rs761406918
|
0.00002
|
NM_000392.5(ABCC2):c.697dup (p.Met233fs)
|
rs1314486961
|
0.00002
|
NM_000404.4(GLB1):c.1445G>A (p.Arg482His)
|
rs72555391
|
0.00002
|
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys)
|
rs756878418
|
0.00002
|
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln)
|
rs572237881
|
0.00002
|
NM_000426.4(LAMA2):c.5116C>T (p.Arg1706Ter)
|
rs758775001
|
0.00002
|
NM_000426.4(LAMA2):c.5562+5G>C
|
rs771046502
|
0.00002
|
NM_000443.4(ABCB4):c.2211+1G>A
|
rs794727183
|
0.00002
|
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp)
|
rs398123408
|
0.00002
|
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter)
|
rs761860059
|
0.00002
|
NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro)
|
rs139573311
|
0.00002
|
NM_000492.4(CFTR):c.274-1G>A
|
rs121908792
|
0.00002
|
NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys)
|
rs36210737
|
0.00002
|
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)
|
rs397508537
|
0.00002
|
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)
|
rs374705585
|
0.00002
|
NM_000512.5(GALNS):c.1171A>G (p.Met391Val)
|
rs398123429
|
0.00002
|
NM_000543.5(SMPD1):c.757G>C (p.Asp253His)
|
rs398123479
|
0.00002
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter)
|
rs113994129
|
0.00002
|
NM_000709.4(BCKDHA):c.288+1G>A
|
rs398123496
|
0.00002
|
NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val)
|
rs375785084
|
0.00002
|
NM_000939.4(POMC):c.251G>A (p.Trp84Ter)
|
rs781244602
|
0.00002
|
NM_001004334.4(GPR179):c.673C>T (p.Gln225Ter)
|
rs747682469
|
0.00002
|
NM_001005242.3(PKP2):c.663C>A (p.Tyr221Ter)
|
rs767987619
|
0.00002
|
NM_001083961.2(WDR62):c.1941C>A (p.Cys647Ter)
|
rs769688376
|
0.00002
|
NM_001083961.2(WDR62):c.3514+1G>A
|
rs199736219
|
0.00002
|
NM_001130987.2(DYSF):c.1149+1G>A
|
rs398123763
|
0.00002
|
NM_001130987.2(DYSF):c.1380+2T>C
|
rs398123765
|
0.00002
|
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp)
|
rs202218890
|
0.00002
|
NM_001130987.2(DYSF):c.3403-2A>G
|
rs370874727
|
0.00002
|
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys)
|
rs121908955
|
0.00002
|
NM_001267550.2(TTN):c.107377+1G>A
|
rs112188483
|
0.00002
|
NM_001360.3(DHCR7):c.1337G>A (p.Arg446Gln)
|
rs751604696
|
0.00002
|
NM_001360016.2(G6PD):c.98T>C (p.Ile33Thr)
|
rs398123552
|
0.00002
|
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)
|
rs397514367
|
0.00002
|
NM_001377.3(DYNC2H1):c.10024C>T (p.Arg3342Ter)
|
rs751891969
|
0.00002
|
NM_001377.3(DYNC2H1):c.11681C>G (p.Ser3894Ter)
|
rs776315442
|
0.00002
|
NM_001377.3(DYNC2H1):c.12156+1G>A
|
rs794727944
|
0.00002
|
NM_001377.3(DYNC2H1):c.1360+2del
|
rs780539887
|
0.00002
|
NM_001377.3(DYNC2H1):c.3353del (p.Ser1118fs)
|
rs755338872
|
0.00002
|
NM_001377.3(DYNC2H1):c.8947-1G>T
|
rs727503908
|
0.00002
|
NM_001384474.1(LOXHD1):c.6130C>T (p.Arg2044Ter)
|
rs1306586204
|
0.00002
|
NM_001385.3(DPYS):c.424-1G>A
|
rs879851088
|
0.00002
|
NM_003060.4(SLC22A5):c.845G>A (p.Arg282Gln)
|
rs386134210
|
0.00002
|
NM_003742.4(ABCB11):c.3268C>T (p.Arg1090Ter)
|
rs72549396
|
0.00002
|
NM_003907.3(EIF2B5):c.318A>T (p.Leu106Phe)
|
rs113994048
|
0.00002
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter)
|
rs727503326
|
0.00002
|
NM_005476.7(GNE):c.1714G>C (p.Val572Leu)
|
rs121908632
|
0.00002
|
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr)
|
rs748949603
|
0.00002
|
NM_005476.7(GNE):c.829C>T (p.Arg277Cys)
|
rs762106720
|
0.00002
|
NM_005529.7(HSPG2):c.10894C>T (p.Arg3632Ter)
|
rs762281715
|
0.00002
|
NM_005609.4(PYGM):c.1366G>A (p.Val456Met)
|
rs398124208
|
0.00002
|
NM_006059.4(LAMC3):c.2430C>A (p.Cys810Ter)
|
rs769118642
|
0.00002
|
NM_006363.6(SEC23B):c.1648C>T (p.Arg550Ter)
|
rs199939108
|
0.00002
|
NM_007126.5(VCP):c.572G>A (p.Arg191Gln)
|
rs121909334
|
0.00002
|
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp)
|
rs727502855
|
0.00002
|
NM_014797.3(ZBTB24):c.47C>G (p.Ser16Ter)
|
rs370370334
|
0.00002
|
NM_015102.5(NPHP4):c.1357G>T (p.Glu453Ter)
|
rs1210874691
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1329dup (p.Arg444fs)
|
rs749987648
|
0.00002
|
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter)
|
rs398124295
|
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_019109.5(ALG1):c.1187+1G>A
|
rs374928784
|
0.00002
|
NM_019109.5(ALG1):c.1188-2A>G
|
rs794727073
|
0.00002
|
NM_020166.5(MCCC1):c.137-2A>G
|
rs727504006
|
0.00002
|
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer)
|
rs119103217
|
0.00002
|
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter)
|
rs185741664
|
0.00002
|
NM_020247.5(COQ8A):c.1742dup (p.Ser582fs)
|
rs772127266
|
0.00002
|
NM_020451.3(SELENON):c.1315C>T (p.Arg439Ter)
|
rs377215510
|
0.00002
|
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr)
|
rs773774134
|
0.00002
|
NM_022336.4(EDAR):c.1144G>A (p.Gly382Ser)
|
rs747806672
|
0.00002
|
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)
|
rs121908110
|
0.00002
|
NM_024312.5(GNPTAB):c.377T>A (p.Leu126Ter)
|
rs774506925
|
0.00002
|
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)
|
rs180177132
|
0.00002
|
NM_024685.4(BBS10):c.687del (p.Val230fs)
|
rs761101213
|
0.00002
|
NM_024809.5(TCTN2):c.1506-2A>G
|
rs374349989
|
0.00002
|
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)
|
rs749439750
|
0.00002
|
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter)
|
rs760540562
|
0.00002
|
NM_025243.4(SLC19A3):c.81_82dup (p.Met28fs)
|
rs775835429
|
0.00002
|
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys)
|
rs398124434
|
0.00002
|
NM_052989.3(IFT122):c.1148-1G>C
|
rs755005244
|
0.00002
|
NM_054012.4(ASS1):c.1194-1G>C
|
rs727503814
|
0.00002
|
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln)
|
rs371265106
|
0.00002
|
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)
|
rs148617572
|
0.00002
|
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg)
|
rs773136605
|
0.00002
|
NM_152419.3(HGSNAT):c.1250+1G>A
|
rs398124544
|
0.00002
|
NM_152564.5(VPS13B):c.1915C>T (p.Arg639Ter)
|
rs764776104
|
0.00002
|
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter)
|
rs140353201
|
0.00002
|
NM_153676.4(USH1C):c.216G>A (p.Val72=)
|
rs151045328
|
0.00002
|
NM_182961.4(SYNE1):c.14644C>T (p.Arg4882Ter)
|
rs375077588
|
0.00002
|
NM_183050.4(BCKDHB):c.1016C>T (p.Ser339Leu)
|
rs398124561
|
0.00002
|
NM_206933.4(USH2A):c.9371+1G>C
|
rs41308425
|
0.00002
|
NM_207118.3(GTF2H5):c.166C>T (p.Arg56Ter)
|
rs121434364
|
0.00002
|
NM_213622.4(STAMBP):c.1270C>T (p.Arg424Ter)
|
rs397509390
|
0.00002
|
NM_000016.6(ACADM):c.447G>A (p.Met149Ile)
|
rs121434277
|
0.00001
|
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys)
|
rs373715782
|
0.00001
|
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu)
|
rs121434281
|
0.00001
|
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter)
|
rs794727113
|
0.00001
|
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln)
|
rs398123083
|
0.00001
|
NM_000018.4(ACADVL):c.753-2A>C
|
rs398123092
|
0.00001
|
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp)
|
rs148639841
|
0.00001
|
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter)
|
rs120074144
|
0.00001
|
NM_000019.4(ACAT1):c.826+1G>T
|
rs727503796
|
0.00001
|
NM_000023.4(SGCA):c.101G>A (p.Arg34His)
|
rs371675217
|
0.00001
|
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)
|
rs372210292
|
0.00001
|
NM_000023.4(SGCA):c.489del (p.Leu164fs)
|
rs753650776
|
0.00001
|
NM_000023.4(SGCA):c.530del (p.Ser177fs)
|
rs886041387
|
0.00001
|
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter)
|
rs387907298
|
0.00001
|
NM_000023.4(SGCA):c.585-1G>A
|
rs1342189589
|
0.00001
|
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln)
|
rs398123102
|
0.00001
|
NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu)
|
rs128624225
|
0.00001
|
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter)
|
rs370793608
|
0.00001
|
NM_000046.5(ARSB):c.284G>A (p.Arg95Gln)
|
rs118203942
|
0.00001
|
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln)
|
rs727503809
|
0.00001
|
NM_000048.4(ASL):c.280C>T (p.Arg94Cys)
|
rs374304304
|
0.00001
|
NM_000048.4(ASL):c.602+1G>A
|
rs398123127
|
0.00001
|
NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter)
|
rs587778080
|
0.00001
|
NM_000053.4(ATP7B):c.3107dup (p.Arg1038fs)
|
rs886043423
|
0.00001
|
NM_000059.4(BRCA2):c.4889C>G (p.Ser1630Ter)
|
rs80358711
|
0.00001
|
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter)
|
rs80358972
|
0.00001
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
NM_000070.3(CAPN3):c.1027G>T (p.Glu343Ter)
|
rs766334893
|
0.00001
|
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp)
|
rs749099493
|
0.00001
|
NM_000070.3(CAPN3):c.1194-9A>G
|
rs374665929
|
0.00001
|
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp)
|
rs777323132
|
0.00001
|
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys)
|
rs776043976
|
0.00001
|
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His)
|
rs863224956
|
0.00001
|
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys)
|
rs1274808359
|
0.00001
|
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys)
|
rs794726871
|
0.00001
|
NM_000070.3(CAPN3):c.1465C>T (p.Arg489Trp)
|
rs863224957
|
0.00001
|
NM_000070.3(CAPN3):c.1611C>A (p.Tyr537Ter)
|
rs886042439
|
0.00001
|
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)
|
rs142004418
|
0.00001
|
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)
|
rs121434544
|
0.00001
|
NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer)
|
rs762471207
|
0.00001
|
NM_000070.3(CAPN3):c.2185-2A>G
|
rs886041335
|
0.00001
|
NM_000070.3(CAPN3):c.2288A>G (p.Tyr763Cys)
|
rs764459544
|
0.00001
|
NM_000070.3(CAPN3):c.2290del (p.Asp764fs)
|
rs886044527
|
0.00001
|
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)
|
rs778768583
|
0.00001
|
NM_000070.3(CAPN3):c.264T>G (p.Phe88Leu)
|
rs760626912
|
0.00001
|
NM_000070.3(CAPN3):c.439C>T (p.Arg147Ter)
|
rs878854364
|
0.00001
|
NM_000070.3(CAPN3):c.853dup (p.Glu285fs)
|
rs761257703
|
0.00001
|
NM_000071.3(CBS):c.28del (p.Val10fs)
|
rs779250698
|
0.00001
|
NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter)
|
rs72651642
|
0.00001
|
NM_000094.4(COL7A1):c.3971del (p.Leu1324fs)
|
rs886044621
|
0.00001
|
NM_000110.4(DPYD):c.127_134del (p.Lys42_Arg43insTer)
|
rs1207177925
|
0.00001
|
NM_000124.4(ERCC6):c.1526+1G>T
|
rs371739894
|
0.00001
|
NM_000128.4(F11):c.1432G>A (p.Gly478Arg)
|
rs542967227
|
0.00001
|
NM_000128.4(F11):c.67C>T (p.Gln23Ter)
|
rs768409400
|
0.00001
|
NM_000137.4(FAH):c.192G>T (p.Gln64His)
|
rs80338894
|
0.00001
|
NM_000137.4(FAH):c.963C>A (p.Tyr321Ter)
|
rs886044640
|
0.00001
|
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys)
|
rs397514558
|
0.00001
|
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)
|
rs137854466
|
0.00001
|
NM_000143.4(FH):c.560C>G (p.Ser187Ter)
|
rs398123166
|
0.00001
|
NM_000143.4(FH):c.697C>T (p.Arg233Cys)
|
rs587781682
|
0.00001
|
NM_000144.5(FXN):c.317T>C (p.Leu106Ser)
|
rs104894105
|
0.00001
|
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys)
|
rs104894563
|
0.00001
|
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro)
|
rs766074609
|
0.00001
|
NM_000152.5(GAA):c.1754+1G>A
|
rs886043399
|
0.00001
|
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu)
|
rs374470794
|
0.00001
|
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter)
|
rs786204727
|
0.00001
|
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp)
|
rs757111744
|
0.00001
|
NM_000152.5(GAA):c.2512C>T (p.Gln838Ter)
|
rs369532274
|
0.00001
|
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys)
|
rs1057516600
|
0.00001
|
NM_000153.4(GALC):c.169G>A (p.Gly57Ser)
|
rs11623
|
0.00001
|
NM_000153.4(GALC):c.205C>T (p.Arg69Ter)
|
rs771111145
|
0.00001
|
NM_000153.4(GALC):c.908C>T (p.Ser303Phe)
|
rs756352952
|
0.00001
|
NM_000155.4(GALT):c.199C>T (p.Arg67Cys)
|
rs111033658
|
0.00001
|
NM_000155.4(GALT):c.265T>G (p.Tyr89Asp)
|
rs111033666
|
0.00001
|
NM_000155.4(GALT):c.307C>T (p.Gln103Ter)
|
rs1225091358
|
0.00001
|
NM_000155.4(GALT):c.386T>C (p.Met129Thr)
|
rs111033683
|
0.00001
|
NM_000155.4(GALT):c.425T>A (p.Met142Lys)
|
rs111033695
|
0.00001
|
NM_000155.4(GALT):c.443G>A (p.Arg148Gln)
|
rs111033694
|
0.00001
|
NM_000155.4(GALT):c.601C>T (p.Arg201Cys)
|
rs111033739
|
0.00001
|
NM_000155.4(GALT):c.607G>A (p.Glu203Lys)
|
rs111033736
|
0.00001
|
NM_000155.4(GALT):c.610C>T (p.Arg204Ter)
|
rs111033737
|
0.00001
|
NM_000155.4(GALT):c.691C>T (p.Arg231Cys)
|
rs111033749
|
0.00001
|
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)
|
rs368166217
|
0.00001
|
NM_000155.4(GALT):c.775C>T (p.Arg259Trp)
|
rs786204763
|
0.00001
|
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)
|
rs121908311
|
0.00001
|
NM_000157.4(GBA1):c.625C>T (p.Arg209Cys)
|
rs398123532
|
0.00001
|
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile)
|
rs381737
|
0.00001
|
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln)
|
rs777201305
|
0.00001
|
NM_000159.4(GCDH):c.636-1G>A
|
rs398123195
|
0.00001
|
NM_000159.4(GCDH):c.770G>A (p.Arg257Gln)
|
rs751583656
|
0.00001
|
NM_000169.3(GLA):c.1025G>A (p.Arg342Gln)
|
rs28935493
|
0.00001
|
NM_000169.3(GLA):c.1087C>T (p.Arg363Cys)
|
rs797044776
|
0.00001
|
NM_000169.3(GLA):c.124A>C (p.Met42Leu)
|
rs797044613
|
0.00001
|
NM_000169.3(GLA):c.644A>G (p.Asn215Ser)
|
rs28935197
|
0.00001
|
NM_000169.3(GLA):c.679C>T (p.Arg227Ter)
|
rs104894841
|
0.00001
|
NM_000169.3(GLA):c.870G>C (p.Met290Ile)
|
rs869312438
|
0.00001
|
NM_000180.4(GUCY2D):c.2563C>T (p.Gln855Ter)
|
rs1555635778
|
0.00001
|
NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn)
|
rs398123234
|
0.00001
|
NM_000198.4(HSD3B2):c.1003C>T (p.Arg335Ter)
|
rs148200568
|
0.00001
|
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys)
|
rs104894640
|
0.00001
|
NM_000199.5(SGSH):c.1135del (p.Val379fs)
|
rs777956287
|
0.00001
|
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln)
|
rs104894641
|
0.00001
|
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln)
|
rs113993946
|
0.00001
|
NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn)
|
rs368454909
|
0.00001
|
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg)
|
rs772416503
|
0.00001
|
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp)
|
rs794726877
|
0.00001
|
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs)
|
rs794727240
|
0.00001
|
NM_000203.5(IDUA):c.299+1G>T
|
rs398123259
|
0.00001
|
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)
|
rs794726878
|
0.00001
|
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro)
|
rs869025584
|
0.00001
|
NM_000214.3(JAG1):c.694+1G>T
|
rs876660979
|
0.00001
|
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser)
|
rs547818652
|
0.00001
|
NM_000231.3(SGCG):c.752del (p.Thr251fs)
|
rs886042749
|
0.00001
|
NM_000232.5(SGCB):c.1A>G (p.Met1Val)
|
rs398123262
|
0.00001
|
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg)
|
rs28936383
|
0.00001
|
NM_000235.4(LIPA):c.350_351insCC (p.Met117fs)
|
rs753796180
|
0.00001
|
NM_000245.4(MET):c.3281A>G (p.His1094Arg)
|
rs121913243
|
0.00001
|
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter)
|
rs587783771
|
0.00001
|
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp)
|
rs753288303
|
0.00001
|
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter)
|
rs779990936
|
0.00001
|
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp)
|
rs121913637
|
0.00001
|
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly)
|
rs267606908
|
0.00001
|
NM_000257.4(MYH7):c.2722C>G (p.Leu908Val)
|
rs121913631
|
0.00001
|
NM_000260.4(MYO7A):c.133G>T (p.Glu45Ter)
|
rs368877140
|
0.00001
|
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter)
|
rs111033201
|
0.00001
|
NM_000260.4(MYO7A):c.5944G>A (p.Gly1982Arg)
|
rs761469964
|
0.00001
|
NM_000260.4(MYO7A):c.5968C>T (p.Gln1990Ter)
|
rs773844428
|
0.00001
|
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg)
|
rs111033283
|
0.00001
|
NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter)
|
rs111033285
|
0.00001
|
NM_000263.4(NAGLU):c.383+1G>T
|
rs727504028
|
0.00001
|
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter)
|
rs886043792
|
0.00001
|
NM_000271.5(NPC1):c.1219C>T (p.Gln407Ter)
|
rs775629081
|
0.00001
|
NM_000271.5(NPC1):c.2196dup (p.Pro733fs)
|
rs398123284
|
0.00001
|
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu)
|
rs143124972
|
0.00001
|
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys)
|
rs28942108
|
0.00001
|
NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val)
|
rs28942107
|
0.00001
|
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs)
|
rs750323164
|
0.00001
|
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr)
|
rs80358252
|
0.00001
|
NM_000277.3(PAH):c.1200-1G>A
|
rs62507322
|
0.00001
|
NM_000277.3(PAH):c.1A>G (p.Met1Val)
|
rs62514891
|
0.00001
|
NM_000277.3(PAH):c.441+1G>A
|
rs62517166
|
0.00001
|
NM_000277.3(PAH):c.441+5G>T
|
rs62507321
|
0.00001
|
NM_000277.3(PAH):c.442-5C>G
|
rs62514909
|
0.00001
|
NM_000277.3(PAH):c.728G>A (p.Arg243Gln)
|
rs62508588
|
0.00001
|
NM_000277.3(PAH):c.755G>A (p.Arg252Gln)
|
rs62644503
|
0.00001
|
NM_000277.3(PAH):c.781C>T (p.Arg261Ter)
|
rs5030850
|
0.00001
|
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp)
|
rs78655458
|
0.00001
|
NM_000277.3(PAH):c.842+3G>C
|
rs62507324
|
0.00001
|
NM_000277.3(PAH):c.847A>T (p.Ile283Phe)
|
rs62517168
|
0.00001
|
NM_000277.3(PAH):c.912+1G>A
|
rs62514956
|
0.00001
|
NM_000277.3(PAH):c.913-7A>G
|
rs62517165
|
0.00001
|
NM_000277.3(PAH):c.926C>T (p.Ala309Val)
|
rs62642935
|
0.00001
|
NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter)
|
rs776496862
|
0.00001
|
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter)
|
rs1010184002
|
0.00001
|
NM_000289.6(PFKM):c.1413-2A>G
|
rs1430517061
|
0.00001
|
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu)
|
rs80338700
|
0.00001
|
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly)
|
rs80338704
|
0.00001
|
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala)
|
rs398123309
|
0.00001
|
NM_000310.4(PPT1):c.550G>A (p.Glu184Lys)
|
rs386833655
|
0.00001
|
NM_000318.3(PEX2):c.624dup (p.Pro209fs)
|
rs1438831421
|
0.00001
|
NM_000321.3(RB1):c.1363C>T (p.Arg455Ter)
|
rs121913302
|
0.00001
|
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)
|
rs61755783
|
0.00001
|
NM_000322.5(PRPH2):c.828+3A>T
|
rs281865373
|
0.00001
|
NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala)
|
rs80338792
|
0.00001
|
NM_000340.2(SLC2A2):c.775+1G>A
|
rs756874949
|
0.00001
|
NM_000343.4(SLC5A1):c.1673G>A (p.Arg558His)
|
rs201799893
|
0.00001
|
NM_000350.3(ABCA4):c.123G>A (p.Trp41Ter)
|
rs748357067
|
0.00001
|
NM_000350.3(ABCA4):c.1253T>C (p.Phe418Ser)
|
rs794726979
|
0.00001
|
NM_000350.3(ABCA4):c.2345G>A (p.Trp782Ter)
|
rs911580078
|
0.00001
|
NM_000350.3(ABCA4):c.2564G>A (p.Trp855Ter)
|
rs61752406
|
0.00001
|
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)
|
rs61751403
|
0.00001
|
NM_000350.3(ABCA4):c.564del (p.Glu189fs)
|
rs886044148
|
0.00001
|
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter)
|
rs61753038
|
0.00001
|
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=)
|
rs61748520
|
0.00001
|
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)
|
rs61750654
|
0.00001
|
NM_000372.5(TYR):c.658C>T (p.Gln220Ter)
|
rs797046083
|
0.00001
|
NM_000392.5(ABCC2):c.1291del (p.Leu431fs)
|
rs1208873596
|
0.00001
|
NM_000392.5(ABCC2):c.2260del (p.Ile754fs)
|
rs1564687941
|
0.00001
|
NM_000392.5(ABCC2):c.2362_2363del (p.Leu788fs)
|
rs772673105
|
0.00001
|
NM_000392.5(ABCC2):c.2426del (p.Leu809fs)
|
rs765580991
|
0.00001
|
NM_000392.5(ABCC2):c.3517A>T (p.Ile1173Phe)
|
rs72558201
|
0.00001
|
NM_000392.5(ABCC2):c.3580C>T (p.Gln1194Ter)
|
rs559137047
|
0.00001
|
NM_000392.5(ABCC2):c.821_822del (p.Pro274fs)
|
rs1158274146
|
0.00001
|
NM_000404.4(GLB1):c.1479+1G>A
|
rs1022476871
|
0.00001
|
NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys)
|
rs794727165
|
0.00001
|
NM_000404.4(GLB1):c.397-1G>A
|
rs398123353
|
0.00001
|
NM_000404.4(GLB1):c.75+1G>C
|
rs398123358
|
0.00001
|
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp)
|
rs376663785
|
0.00001
|
NM_000426.4(LAMA2):c.112+1G>A
|
rs398123367
|
0.00001
|
NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs)
|
rs202247791
|
0.00001
|
NM_000426.4(LAMA2):c.2749+1G>C
|
rs759555791
|
0.00001
|
NM_000426.4(LAMA2):c.396+1G>T
|
rs770617208
|
0.00001
|
NM_000426.4(LAMA2):c.4523+1G>A
|
rs398123375
|
0.00001
|
NM_000426.4(LAMA2):c.5706_5712del (p.Asp1902fs)
|
rs398123377
|
0.00001
|
NM_000426.4(LAMA2):c.5914C>T (p.Gln1972Ter)
|
rs398123378
|
0.00001
|
NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter)
|
rs398123383
|
0.00001
|
NM_000431.4(MVK):c.564G>A (p.Trp188Ter)
|
rs104895311
|
0.00001
|
NM_000434.4(NEU1):c.727G>A (p.Gly243Arg)
|
rs104893983
|
0.00001
|
NM_000440.3(PDE6A):c.2183G>A (p.Trp728Ter)
|
rs1561679951
|
0.00001
|
NM_000441.2(SLC26A4):c.68C>A (p.Ser23Ter)
|
rs397516430
|
0.00001
|
NM_000443.4(ABCB4):c.1006-1G>T
|
rs772823352
|
0.00001
|
NM_000443.4(ABCB4):c.1144G>T (p.Glu382Ter)
|
rs1554407511
|
0.00001
|
NM_000443.4(ABCB4):c.139C>T (p.Arg47Ter)
|
rs376926391
|
0.00001
|
NM_000443.4(ABCB4):c.2833C>T (p.Gln945Ter)
|
rs886042562
|
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_000444.6(PHEX):c.*231A>G
|
rs946863800
|
0.00001
|
NM_000451.4(SHOX):c.440G>A (p.Arg147His)
|
rs886043634
|
0.00001
|
NM_000451.4(SHOX):c.583C>T (p.Arg195Ter)
|
rs137852552
|
0.00001
|
NM_000454.5(SOD1):c.341T>C (p.Ile114Thr)
|
rs121912441
|
0.00001
|
NM_000463.3(UGT1A1):c.1006C>T (p.Arg336Trp)
|
rs139607673
|
0.00001
|
NM_000463.3(UGT1A1):c.1069C>T (p.Gln357Ter)
|
rs72551350
|
0.00001
|
NM_000463.3(UGT1A1):c.622_625dup (p.Arg209fs)
|
rs766536479
|
0.00001
|
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter)
|
rs398123409
|
0.00001
|
NM_000466.3(PEX1):c.3208-1G>A
|
rs1057517518
|
0.00001
|
NM_000478.6(ALPL):c.1133A>T (p.Asp378Val)
|
rs121918008
|
0.00001
|
NM_000478.6(ALPL):c.1559del (p.Leu520fs)
|
rs387906525
|
0.00001
|
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys)
|
rs74315479
|
0.00001
|
NM_000487.6(ARSA):c.1210+1G>A
|
rs80338820
|
0.00001
|
NM_000487.6(ARSA):c.195del (p.Phe64_Tyr65insTer)
|
rs398123414
|
0.00001
|
NM_000487.6(ARSA):c.737G>A (p.Arg246His)
|
rs199476366
|
0.00001
|
NM_000487.6(ARSA):c.769G>C (p.Asp257His)
|
rs80338819
|
0.00001
|
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser)
|
rs199476349
|
0.00001
|
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys)
|
rs79282516
|
0.00001
|
NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter)
|
rs77101217
|
0.00001
|
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter)
|
rs397508296
|
0.00001
|
NM_000492.4(CFTR):c.1766+3A>G
|
rs397508298
|
0.00001
|
NM_000492.4(CFTR):c.2125C>T (p.Arg709Ter)
|
rs121908760
|
0.00001
|
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His)
|
rs121909019
|
0.00001
|
NM_000492.4(CFTR):c.3612G>A (p.Trp1204Ter)
|
rs121908765
|
0.00001
|
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser)
|
rs121908803
|
0.00001
|
NM_000492.4(CFTR):c.695T>A (p.Val232Asp)
|
rs397508783
|
0.00001
|
NM_000497.4(CYP11B1):c.595+1G>A
|
rs1264073726
|
0.00001
|
NM_000512.5(GALNS):c.1175C>T (p.Ala392Val)
|
rs398123430
|
0.00001
|
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg)
|
rs199638097
|
0.00001
|
NM_000512.5(GALNS):c.463G>A (p.Gly155Arg)
|
rs398123438
|
0.00001
|
NM_000512.5(GALNS):c.477G>A (p.Trp159Ter)
|
rs398123439
|
0.00001
|
NM_000512.5(GALNS):c.485C>T (p.Ser162Phe)
|
rs118204444
|
0.00001
|
NM_000512.5(GALNS):c.953T>G (p.Met318Arg)
|
rs746756997
|
0.00001
|
NM_000518.5(HBB):c.92+5G>C
|
rs33915217
|
0.00001
|
NM_000520.6(HEXA):c.2T>C (p.Met1Thr)
|
rs786204721
|
0.00001
|
NM_000521.4(HEXB):c.1243-2A>G
|
rs398123446
|
0.00001
|
NM_000521.4(HEXB):c.508C>T (p.Arg170Ter)
|
rs753823903
|
0.00001
|
NM_000528.4(MAN2B1):c.2436+2T>C
|
rs398123457
|
0.00001
|
NM_000532.5(PCCB):c.3G>A (p.Met1Ile)
|
rs398123464
|
0.00001
|
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter)
|
rs572246667
|
0.00001
|
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His)
|
rs121918594
|
0.00001
|
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr)
|
rs120074126
|
0.00001
|
NM_000543.5(SMPD1):c.1341-1G>A
|
rs1057516854
|
0.00001
|
NM_000543.5(SMPD1):c.573del (p.Ser192fs)
|
rs727504167
|
0.00001
|
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys)
|
rs200763423
|
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_000551.4(VHL):c.292T>C (p.Tyr98His)
|
rs5030809
|
0.00001
|
NM_000557.5(GDF5):c.158del (p.Leu53fs)
|
rs886042462
|
0.00001
|
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter)
|
rs113994131
|
0.00001
|
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys)
|
rs182923857
|
0.00001
|
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met)
|
rs398123490
|
0.00001
|
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met)
|
rs398123503
|
0.00001
|
NM_000709.4(BCKDHA):c.854-2A>G
|
rs760494152
|
0.00001
|
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg)
|
rs137852871
|
0.00001
|
NM_000709.4(BCKDHA):c.929C>G (p.Thr310Arg)
|
rs137852875
|
0.00001
|
NM_000784.4(CYP27A1):c.1185-1G>A
|
rs587778779
|
0.00001
|
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp)
|
rs573951598
|
0.00001
|
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)
|
rs121908099
|
0.00001
|
NM_000784.4(CYP27A1):c.446+1G>A
|
rs587778797
|
0.00001
|
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter)
|
rs72551314
|
0.00001
|
NM_000823.4(GHRHR):c.194G>A (p.Trp65Ter)
|
rs1562592874
|
0.00001
|
NM_000843.4(GRM6):c.1462C>T (p.Gln488Ter)
|
rs748979061
|
0.00001
|
NM_001004334.4(GPR179):c.1543C>T (p.Arg515Ter)
|
rs980007216
|
0.00001
|
NM_001005242.3(PKP2):c.1379-1998C>T
|
rs151212477
|
0.00001
|
NM_001008216.2(GALE):c.101A>G (p.Asn34Ser)
|
rs121908046
|
0.00001
|
NM_001008216.2(GALE):c.280G>A (p.Val94Met)
|
rs121908047
|
0.00001
|
NM_001008216.2(GALE):c.796-1G>T
|
rs779828095
|
0.00001
|
NM_001015880.2(PAPSS2):c.1000C>T (p.Arg334Ter)
|
rs121908952
|
0.00001
|
NM_001042432.2(CLN3):c.906+2T>A
|
rs771788391
|
0.00001
|
NM_001077365.2(POMT1):c.1015C>T (p.Gln339Ter)
|
rs756973046
|
0.00001
|
NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs)
|
rs1564364615
|
0.00001
|
NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter)
|
rs119462985
|
0.00001
|
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr)
|
rs119462987
|
0.00001
|
NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro)
|
rs119462982
|
0.00001
|
NM_001077365.2(POMT1):c.699+67G>A
|
rs776061161
|
0.00001
|
NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter)
|
rs119463990
|
0.00001
|
NM_001079802.2(FKTN):c.369+1G>C
|
rs764125009
|
0.00001
|
NM_001079802.2(FKTN):c.911-1G>A
|
rs958678700
|
0.00001
|
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln)
|
rs119463992
|
0.00001
|
NM_001081.4(CUBN):c.1506G>A (p.Trp502Ter)
|
rs145818316
|
0.00001
|
NM_001081.4(CUBN):c.1865del (p.Thr622fs)
|
rs386833771
|
0.00001
|
NM_001083116.3(PRF1):c.1081A>T (p.Arg361Trp)
|
rs752858869
|
0.00001
|
NM_001128178.3(NPHP1):c.329+1G>A
|
rs376974221
|
0.00001
|
NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter)
|
rs1349732291
|
0.00001
|
NM_001130987.2(DYSF):c.1033+1G>A
|
rs201869739
|
0.00001
|
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter)
|
rs758180890
|
0.00001
|
NM_001130987.2(DYSF):c.1276+5G>A
|
rs766433603
|
0.00001
|
NM_001130987.2(DYSF):c.1692+2T>A
|
rs398123771
|
0.00001
|
NM_001130987.2(DYSF):c.1693-6T>A
|
rs886039573
|
0.00001
|
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp)
|
rs377735262
|
0.00001
|
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter)
|
rs746873768
|
0.00001
|
NM_001130987.2(DYSF):c.2010G>A (p.Trp670Ter)
|
rs794727343
|
0.00001
|
NM_001130987.2(DYSF):c.2217-2A>G
|
rs747289205
|
0.00001
|
NM_001130987.2(DYSF):c.2409+1G>A
|
rs151317754
|
0.00001
|
NM_001130987.2(DYSF):c.2923C>T (p.Gln975Ter)
|
rs398123776
|
0.00001
|
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys)
|
rs28937581
|
0.00001
|
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)
|
rs150877497
|
0.00001
|
NM_001130987.2(DYSF):c.3421_3422del (p.Lys1141fs)
|
rs748542672
|
0.00001
|
NM_001130987.2(DYSF):c.3532C>T (p.Gln1178Ter)
|
rs886042091
|
0.00001
|
NM_001130987.2(DYSF):c.356del (p.Val119fs)
|
rs398123782
|
0.00001
|
NM_001130987.2(DYSF):c.3824G>A (p.Trp1275Ter)
|
rs1553376538
|
0.00001
|
NM_001130987.2(DYSF):c.4135T>C (p.Cys1379Arg)
|
rs776472879
|
0.00001
|
NM_001130987.2(DYSF):c.4282C>T (p.Gln1428Ter)
|
rs769721856
|
0.00001
|
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter)
|
rs886044411
|
0.00001
|
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter)
|
rs398123789
|
0.00001
|
NM_001130987.2(DYSF):c.4911+1G>T
|
rs777216777
|
0.00001
|
NM_001130987.2(DYSF):c.5200C>T (p.Gln1734Ter)
|
rs886044422
|
0.00001
|
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)
|
rs746243052
|
0.00001
|
NM_001130987.2(DYSF):c.5458-1G>A
|
rs886042879
|
0.00001
|
NM_001130987.2(DYSF):c.5458-2A>C
|
rs398123792
|
0.00001
|
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn)
|
rs398123794
|
0.00001
|
NM_001130987.2(DYSF):c.5761C>T (p.Gln1921Ter)
|
rs398123795
|
0.00001
|
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter)
|
rs121908959
|
0.00001
|
NM_001130987.2(DYSF):c.5884+1G>A
|
rs756689063
|
0.00001
|
NM_001130987.2(DYSF):c.6099_6106dup (p.His2036fs)
|
rs886042318
|
0.00001
|
NM_001130987.2(DYSF):c.889-2A>G
|
rs934428561
|
0.00001
|
NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg)
|
rs121908963
|
0.00001
|
NM_001134831.2(AHI1):c.1235dup (p.Leu413fs)
|
rs772289223
|
0.00001
|
NM_001142800.2(EYS):c.490C>T (p.Arg164Ter)
|
rs794727631
|
0.00001
|
NM_001164508.2(NEB):c.1152+1G>A
|
rs398124167
|
0.00001
|
NM_001164508.2(NEB):c.25141_25142del (p.Met8381fs)
|
rs1472403020
|
0.00001
|
NM_001164508.2(NEB):c.294+2T>C
|
rs773952935
|
0.00001
|
NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His)
|
rs398123588
|
0.00001
|
NM_001199397.3(NEK1):c.869-1G>T
|
rs794727032
|
0.00001
|
NM_001243279.3(ACSF3):c.1502-2A>G
|
rs1188774860
|
0.00001
|
NM_001252024.2(TRPM1):c.2695C>T (p.Arg899Ter)
|
rs1485132228
|
0.00001
|
NM_001256789.3(CACNA1F):c.1504C>T (p.Arg502Ter)
|
rs1365490247
|
0.00001
|
NM_001256789.3(CACNA1F):c.244C>T (p.Arg82Ter)
|
rs797044676
|
0.00001
|
NM_001256789.3(CACNA1F):c.2543+1G>A
|
rs886044841
|
0.00001
|
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter)
|
rs757082154
|
0.00001
|
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)
|
rs753334568
|
0.00001
|
NM_001277115.2(DNAH11):c.9706C>T (p.Arg3236Ter)
|
rs753101269
|
0.00001
|
NM_001289104.2(PRKCSH):c.1534G>T (p.Glu512Ter)
|
rs398123688
|
0.00001
|
NM_001297.5(CNGB1):c.2128C>T (p.Gln710Ter)
|
rs754786301
|
0.00001
|
NM_001297.5(CNGB1):c.952C>T (p.Gln318Ter)
|
rs372504780
|
0.00001
|
NM_001353214.3(DYM):c.621-2A>G
|
rs775414124
|
0.00001
|
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp)
|
rs80338860
|
0.00001
|
NM_001360.3(DHCR7):c.151C>T (p.Pro51Ser)
|
rs104886035
|
0.00001
|
NM_001360.3(DHCR7):c.292C>T (p.Gln98Ter)
|
rs104886039
|
0.00001
|
NM_001360.3(DHCR7):c.841G>A (p.Val281Met)
|
rs398123607
|
0.00001
|
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro)
|
rs78365220
|
0.00001
|
NM_001363711.2(DUOX2):c.1085_1103dup (p.Val369fs)
|
rs1595527456
|
0.00001
|
NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter)
|
rs104894267
|
0.00001
|
NM_001374385.1(ATP8B1):c.1799G>A (p.Arg600Gln)
|
rs1202682161
|
0.00001
|
NM_001374385.1(ATP8B1):c.1993G>T (p.Glu665Ter)
|
rs515726137
|
0.00001
|
NM_001374385.1(ATP8B1):c.2097+2T>C
|
rs387906381
|
0.00001
|
NM_001374385.1(ATP8B1):c.279G>A (p.Ala93=)
|
rs761575295
|
0.00001
|
NM_001374385.1(ATP8B1):c.2854C>T (p.Arg952Ter)
|
rs765889649
|
0.00001
|
NM_001378609.3(OTOGL):c.3103C>T (p.Gln1035Ter)
|
rs886044647
|
0.00001
|
NM_001378615.1(CC2D2A):c.1696G>T (p.Glu566Ter)
|
rs780814559
|
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_001609.4(ACADSB):c.295C>T (p.Gln99Ter)
|
rs760791287
|
0.00001
|
NM_001793.6(CDH3):c.1085G>A (p.Trp362Ter)
|
rs755910254
|
0.00001
|
NM_001814.6(CTSC):c.857A>G (p.Gln286Arg)
|
rs104894208
|
0.00001
|
NM_001849.4(COL6A2):c.1396-1G>A
|
rs1331260332
|
0.00001
|
NM_001849.4(COL6A2):c.1615C>T (p.Arg539Ter)
|
rs749593004
|
0.00001
|
NM_001849.4(COL6A2):c.2611G>A (p.Asp871Asn)
|
rs387906610
|
0.00001
|
NM_001876.4(CPT1A):c.2129G>A (p.Gly710Glu)
|
rs80356780
|
0.00001
|
NM_001876.4(CPT1A):c.281+1G>A
|
rs191107774
|
0.00001
|
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter)
|
rs398123660
|
0.00001
|
NM_001918.5(DBT):c.434-15_434-4del
|
rs727503895
|
0.00001
|
NM_001918.5(DBT):c.871C>T (p.Arg291Ter)
|
rs398123675
|
0.00001
|
NM_001918.5(DBT):c.939G>C (p.Lys313Asn)
|
rs398123676
|
0.00001
|
NM_001927.4(DES):c.1285C>T (p.Arg429Ter)
|
rs150974575
|
0.00001
|
NM_002225.5(IVD):c.1108C>T (p.Gln370Ter)
|
rs368705240
|
0.00001
|
NM_002225.5(IVD):c.397_398del (p.Cys133fs)
|
rs398123682
|
0.00001
|
NM_002225.5(IVD):c.456+2T>C
|
rs398123683
|
0.00001
|
NM_002225.5(IVD):c.498del (p.Glu166fs)
|
rs398123684
|
0.00001
|
NM_002225.5(IVD):c.784+1G>A
|
rs763471771
|
0.00001
|
NM_002335.4(LRP5):c.2737dup (p.Cys913fs)
|
rs886043590
|
0.00001
|
NM_002437.5(MPV17):c.148C>T (p.Arg50Trp)
|
rs121909723
|
0.00001
|
NM_002437.5(MPV17):c.409-1G>C
|
rs886044280
|
0.00001
|
NM_002633.3(PGM1):c.649C>T (p.Arg217Ter)
|
rs770066171
|
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.844A>G (p.Ile282Val)
|
rs397507529
|
0.00001
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
NM_002905.5(RDH5):c.814_815del (p.Leu272fs)
|
rs765714290
|
0.00001
|
NM_003000.3(SDHB):c.343C>T (p.Arg115Ter)
|
rs751000085
|
0.00001
|
NM_003060.4(SLC22A5):c.1202dup (p.Tyr401Ter)
|
rs121908887
|
0.00001
|
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr)
|
rs727504159
|
0.00001
|
NM_003060.4(SLC22A5):c.394-2A>C
|
rs377724489
|
0.00001
|
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser)
|
rs72552725
|
0.00001
|
NM_003630.3(PEX3):c.288-1G>A
|
rs752904598
|
0.00001
|
NM_003673.4(TCAP):c.66G>A (p.Trp22Ter)
|
rs141019458
|
0.00001
|
NM_003722.5(TP63):c.727C>T (p.Arg243Trp)
|
rs121908835
|
0.00001
|
NM_003742.4(ABCB11):c.1408C>T (p.Arg470Ter)
|
rs774824767
|
0.00001
|
NM_003742.4(ABCB11):c.1445A>G (p.Asp482Gly)
|
rs72549402
|
0.00001
|
NM_003742.4(ABCB11):c.1763C>T (p.Ala588Val)
|
rs917981474
|
0.00001
|
NM_003742.4(ABCB11):c.2178+1G>A
|
rs1459273753
|
0.00001
|
NM_003742.4(ABCB11):c.22C>T (p.Arg8Ter)
|
rs886043986
|
0.00001
|
NM_003742.4(ABCB11):c.2380C>T (p.Gln794Ter)
|
rs1060499579
|
0.00001
|
NM_003742.4(ABCB11):c.2782C>T (p.Arg928Ter)
|
rs756529333
|
0.00001
|
NM_003742.4(ABCB11):c.2783_2787dup (p.Lys930fs)
|
rs752919965
|
0.00001
|
NM_003742.4(ABCB11):c.3169C>T (p.Arg1057Ter)
|
rs72549397
|
0.00001
|
NM_003742.4(ABCB11):c.3692G>A (p.Arg1231Gln)
|
rs758069019
|
0.00001
|
NM_003919.3(SGCE):c.304C>T (p.Arg102Ter)
|
rs121908490
|
0.00001
|
NM_003919.3(SGCE):c.771_772del (p.Thr257_Cys258insTer)
|
rs794727794
|
0.00001
|
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)
|
rs104894413
|
0.00001
|
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)
|
rs111033295
|
0.00001
|
NM_004006.3(DMD):c.5739+1G>T
|
rs886043041
|
0.00001
|
NM_004006.3(DMD):c.5899C>T (p.Arg1967Ter)
|
rs128626249
|
0.00001
|
NM_004369.4(COL6A3):c.4366C>T (p.Arg1456Ter)
|
rs781043870
|
0.00001
|
NM_004407.4(DMP1):c.98G>A (p.Trp33Ter)
|
rs766601503
|
0.00001
|
NM_004917.5(KLK4):c.632del (p.Leu211fs)
|
rs556734208
|
0.00001
|
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met)
|
rs140236996
|
0.00001
|
NM_005476.7(GNE):c.2135T>C (p.Met712Thr)
|
rs28937594
|
0.00001
|
NM_005476.7(GNE):c.736C>T (p.Arg246Trp)
|
rs773729410
|
0.00001
|
NM_005559.4(LAMA1):c.1942_1948del (p.Phe648fs)
|
rs754361205
|
0.00001
|
NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr)
|
rs119103252
|
0.00001
|
NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter)
|
rs771865668
|
0.00001
|
NM_005989.4(AKR1D1):c.583G>T (p.Glu195Ter)
|
rs1433614577
|
0.00001
|
NM_006294.5(UQCRB):c.306_309del (p.Arg105fs)
|
rs886043294
|
0.00001
|
NM_006363.6(SEC23B):c.1571C>T (p.Ala524Val)
|
rs398124225
|
0.00001
|
NM_006790.3(MYOT):c.179C>T (p.Ser60Phe)
|
rs121908458
|
0.00001
|
NM_007126.5(VCP):c.476G>A (p.Arg159His)
|
rs121909335
|
0.00001
|
NM_007294.4(BRCA1):c.4222C>T (p.Gln1408Ter)
|
rs80356989
|
0.00001
|
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)
|
rs80357433
|
0.00001
|
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)
|
rs267607048
|
0.00001
|
NM_012210.4(TRIM32):c.691del (p.Ala231fs)
|
rs747685252
|
0.00001
|
NM_012233.3(RAB3GAP1):c.475_478del (p.Thr159fs)
|
rs886043202
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1514+1G>A
|
rs374480381
|
0.00001
|
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter)
|
rs80356750
|
0.00001
|
NM_013382.7(POMT2):c.1417C>T (p.Arg473Ter)
|
rs368817785
|
0.00001
|
NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter)
|
rs119463989
|
0.00001
|
NM_013382.7(POMT2):c.248+2T>C
|
rs1326631351
|
0.00001
|
NM_013382.7(POMT2):c.639C>A (p.Tyr213Ter)
|
rs764878423
|
0.00001
|
NM_013382.7(POMT2):c.958C>T (p.Gln320Ter)
|
rs775932206
|
0.00001
|
NM_014140.4(SMARCAL1):c.415_416del (p.Leu139fs)
|
rs781023326
|
0.00001
|
NM_014141.6(CNTNAP2):c.2153G>A (p.Trp718Ter)
|
rs398124268
|
0.00001
|
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg)
|
rs121912631
|
0.00001
|
NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs)
|
rs80338725
|
0.00001
|
NM_014251.3(SLC25A13):c.70-1G>A
|
rs962082210
|
0.00001
|
NM_014639.4(SKIC3):c.3364del (p.Thr1122fs)
|
rs774405964
|
0.00001
|
NM_014780.5(CUL7):c.1648C>T (p.Arg550Ter)
|
rs746333044
|
0.00001
|
NM_014780.5(CUL7):c.2710C>T (p.Arg904Ter)
|
rs760910667
|
0.00001
|
NM_014780.5(CUL7):c.4318C>T (p.Arg1440Ter)
|
rs748555538
|
0.00001
|
NM_014780.5(CUL7):c.4717C>T (p.Arg1573Ter)
|
rs749509661
|
0.00001
|
NM_015102.5(NPHP4):c.2011C>T (p.Gln671Ter)
|
rs1025515771
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter)
|
rs145665129
|
0.00001
|
NM_015294.6(TRIM37):c.1411C>T (p.Arg471Ter)
|
rs386834001
|
0.00001
|
NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter)
|
rs759188647
|
0.00001
|
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)
|
rs121918241
|
0.00001
|
NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn)
|
rs267607042
|
0.00001
|
NM_016239.4(MYO15A):c.3505C>T (p.Arg1169Ter)
|
rs781546107
|
0.00001
|
NM_016239.4(MYO15A):c.3866+1G>A
|
rs374742590
|
0.00001
|
NM_016247.4(IMPG2):c.829-1G>T
|
rs776740276
|
0.00001
|
NM_016341.4(PLCE1):c.5890C>T (p.Arg1964Ter)
|
rs775052849
|
0.00001
|
NM_016363.5(GP6):c.479G>A (p.Trp160Ter)
|
rs886043669
|
0.00001
|
NM_016729.3(FOLR1):c.352C>T (p.Gln118Ter)
|
rs121918405
|
0.00001
|
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys)
|
rs193302867
|
0.00001
|
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter)
|
rs386834039
|
0.00001
|
NM_018249.6(CDK5RAP2):c.4441C>T (p.Arg1481Ter)
|
rs587783390
|
0.00001
|
NM_018668.5(VPS33B):c.1246C>T (p.Arg416Ter)
|
rs780626848
|
0.00001
|
NM_018668.5(VPS33B):c.940-2A>G
|
rs774529051
|
0.00001
|
NM_019098.5(CNGB3):c.1255G>T (p.Glu419Ter)
|
rs372302139
|
0.00001
|
NM_020166.5(MCCC1):c.640-2A>G
|
rs772395858
|
0.00001
|
NM_020347.4(LZTFL1):c.322C>T (p.Arg108Ter)
|
rs769327864
|
0.00001
|
NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter)
|
rs1429786931
|
0.00001
|
NM_020366.4(RPGRIP1):c.2775G>A (p.Trp925Ter)
|
rs398124354
|
0.00001
|
NM_020451.3(SELENON):c.1096G>T (p.Glu366Ter)
|
rs794727976
|
0.00001
|
NM_020451.3(SELENON):c.1469G>A (p.Trp490Ter)
|
rs960468382
|
0.00001
|
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr)
|
rs77939446
|
0.00001
|
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)
|
rs75076352
|
0.00001
|
NM_021615.5(CHST6):c.172C>T (p.Gln58Ter)
|
rs756036451
|
0.00001
|
NM_021957.4(GYS2):c.457del (p.Met152_Leu153insTer)
|
rs1307281520
|
0.00001
|
NM_022041.4(GAN):c.851+1G>A
|
rs747291494
|
0.00001
|
NM_022089.4(ATP13A2):c.2455C>T (p.Arg819Ter)
|
rs866035312
|
0.00001
|
NM_022124.6(CDH23):c.146-2A>G
|
rs794727649
|
0.00001
|
NM_022132.5(MCCC2):c.1412_1413del (p.Ser471fs)
|
rs780304038
|
0.00001
|
NM_022132.5(MCCC2):c.142C>T (p.Gln48Ter)
|
rs1184301452
|
0.00001
|
NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter)
|
rs727504010
|
0.00001
|
NM_022437.3(ABCG8):c.1608G>A (p.Trp536Ter)
|
rs544500542
|
0.00001
|
NM_022437.3(ABCG8):c.64-2A>G
|
rs934115584
|
0.00001
|
NM_022464.5(SIL1):c.460C>T (p.Gln154Ter)
|
rs774441811
|
0.00001
|
NM_023036.6(DNAI2):c.1697del (p.Asp566fs)
|
rs764971993
|
0.00001
|
NM_024301.5(FKRP):c.1269_1270insT (p.Asn424Ter)
|
rs772950604
|
0.00001
|
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu)
|
rs104894681
|
0.00001
|
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr)
|
rs1301397800
|
0.00001
|
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg)
|
rs104894682
|
0.00001
|
NM_024301.5(FKRP):c.264C>G (p.Tyr88Ter)
|
rs1057520771
|
0.00001
|
NM_024301.5(FKRP):c.313C>T (p.Gln105Ter)
|
rs761821795
|
0.00001
|
NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter)
|
rs281864969
|
0.00001
|
NM_024312.5(GNPTAB):c.2896del (p.Met966fs)
|
rs398124398
|
0.00001
|
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter)
|
rs137852897
|
0.00001
|
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter)
|
rs398124401
|
0.00001
|
NM_024592.5(SRD5A3):c.603G>A (p.Trp201Ter)
|
rs765191836
|
0.00001
|
NM_025074.7(FRAS1):c.2722+1G>A
|
rs794727365
|
0.00001
|
NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter)
|
rs745597204
|
0.00001
|
NM_025114.4(CEP290):c.181-2A>G
|
rs886042359
|
0.00001
|
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter)
|
rs780225183
|
0.00001
|
NM_025114.4(CEP290):c.437del (p.Glu146fs)
|
rs1452465499
|
0.00001
|
NM_025114.4(CEP290):c.5932C>T (p.Arg1978Ter)
|
rs371525247
|
0.00001
|
NM_025137.4(SPG11):c.5470C>T (p.Arg1824Ter)
|
rs312262767
|
0.00001
|
NM_025137.4(SPG11):c.5757_5758del (p.Glu1921fs)
|
rs771558571
|
0.00001
|
NM_025193.4(HSD3B7):c.166+1G>A
|
rs530793570
|
0.00001
|
NM_025193.4(HSD3B7):c.439G>A (p.Glu147Lys)
|
rs104894518
|
0.00001
|
NM_025193.4(HSD3B7):c.45_46del (p.Gly17fs)
|
rs786200876
|
0.00001
|
NM_031433.4(MFRP):c.271C>T (p.Gln91Ter)
|
rs1359404443
|
0.00001
|
NM_031433.4(MFRP):c.523C>T (p.Gln175Ter)
|
rs121908189
|
0.00001
|
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter)
|
rs201196733
|
0.00001
|
NM_032119.4(ADGRV1):c.12823C>T (p.Gln4275Ter)
|
rs768589991
|
0.00001
|
NM_033337.3(CAV3):c.80G>A (p.Arg27Gln)
|
rs116840778
|
0.00001
|
NM_054012.4(ASS1):c.1088G>A (p.Arg363Gln)
|
rs771937610
|
0.00001
|
NM_054012.4(ASS1):c.793C>T (p.Arg265Cys)
|
rs148918985
|
0.00001
|
NM_054012.4(ASS1):c.910C>T (p.Arg304Trp)
|
rs121908642
|
0.00001
|
NM_058246.4(DNAJB6):c.265T>A (p.Phe89Ile)
|
rs387907150
|
0.00001
|
NM_080916.3(DGUOK):c.195G>A (p.Trp65Ter)
|
rs140307681
|
0.00001
|
NM_080916.3(DGUOK):c.494A>T (p.Glu165Val)
|
rs770950831
|
0.00001
|
NM_130837.3(OPA1):c.1150-2A>G
|
rs886041317
|
0.00001
|
NM_130837.3(OPA1):c.1936-2A>G
|
rs747454971
|
0.00001
|
NM_130837.3(OPA1):c.2178+1G>A
|
rs1560392160
|
0.00001
|
NM_130837.3(OPA1):c.533T>A (p.Leu178Ter)
|
rs727504058
|
0.00001
|
NM_133642.5(LARGE1):c.1102C>T (p.Gln368Ter)
|
rs398124181
|
0.00001
|
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)
|
rs781368899
|
0.00001
|
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter)
|
rs754392766
|
0.00001
|
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter)
|
rs727504089
|
0.00001
|
NM_138694.4(PKHD1):c.3528dup (p.Ser1177fs)
|
rs797044713
|
0.00001
|
NM_138694.4(PKHD1):c.370C>T (p.Arg124Ter)
|
rs727504096
|
0.00001
|
NM_138694.4(PKHD1):c.383del (p.Thr128fs)
|
rs868562051
|
0.00001
|
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr)
|
rs794727566
|
0.00001
|
NM_138694.4(PKHD1):c.707+1G>A
|
rs748365248
|
0.00001
|
NM_138694.4(PKHD1):c.711_714del (p.Met238fs)
|
rs786204588
|
0.00001
|
NM_138694.4(PKHD1):c.7194G>A (p.Trp2398Ter)
|
rs794727680
|
0.00001
|
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter)
|
rs398124500
|
0.00001
|
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter)
|
rs786204688
|
0.00001
|
NM_138694.4(PKHD1):c.9718C>T (p.Arg3240Ter)
|
rs1057516577
|
0.00001
|
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter)
|
rs398124503
|
0.00001
|
NM_144672.4(OTOA):c.1880+1G>A
|
rs148690740
|
0.00001
|
NM_144997.7(FLCN):c.1433-2A>G
|
rs398124528
|
0.00001
|
NM_144997.7(FLCN):c.1522_1524del (p.Lys508del)
|
rs398124529
|
0.00001
|
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter)
|
rs751356206
|
0.00001
|
NM_152269.5(MTRFR):c.394C>T (p.Arg132Ter)
|
rs397514539
|
0.00001
|
NM_152419.3(HGSNAT):c.1464+1G>A
|
rs398124545
|
0.00001
|
NM_152419.3(HGSNAT):c.234+1G>A
|
rs483352908
|
0.00001
|
NM_152443.3(RDH12):c.210dup (p.Arg71fs)
|
rs797044761
|
0.00001
|
NM_153240.5(NPHP3):c.1472del (p.Met491fs)
|
rs1215965777
|
0.00001
|
NM_153240.5(NPHP3):c.1729C>T (p.Arg577Ter)
|
rs119456962
|
0.00001
|
NM_153240.5(NPHP3):c.2311-2A>G
|
rs1332659264
|
0.00001
|
NM_153240.5(NPHP3):c.3373C>T (p.Arg1125Ter)
|
rs368138001
|
0.00001
|
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter)
|
rs121908370
|
0.00001
|
NM_153700.2(STRC):c.4837G>T (p.Glu1613Ter)
|
rs769443188
|
0.00001
|
NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter)
|
rs769957689
|
0.00001
|
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys)
|
rs57318642
|
0.00001
|
NM_170707.4(LMNA):c.356+1G>C
|
rs794728589
|
0.00001
|
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp)
|
rs59026483
|
0.00001
|
NM_176787.5(PIGN):c.981dup (p.Met328fs)
|
rs776697598
|
0.00001
|
NM_182961.4(SYNE1):c.24577C>T (p.Arg8193Ter)
|
rs760715690
|
0.00001
|
NM_183050.4(BCKDHB):c.526A>T (p.Asn176Tyr)
|
rs398124582
|
0.00001
|
NM_183050.4(BCKDHB):c.633+1G>A
|
rs398124589
|
0.00001
|
NM_183050.4(BCKDHB):c.752T>C (p.Val251Ala)
|
rs398124593
|
0.00001
|
NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter)
|
rs398124594
|
0.00001
|
NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter)
|
rs398124603
|
0.00001
|
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter)
|
rs114342808
|
0.00001
|
NM_201384.3(PLEC):c.4675C>T (p.Arg1559Ter)
|
rs782185897
|
0.00001
|
NM_206933.4(USH2A):c.11047+1G>A
|
rs201730567
|
0.00001
|
NM_206933.4(USH2A):c.12067-2A>G
|
rs397517978
|
0.00001
|
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs)
|
rs768161313
|
0.00001
|
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter)
|
rs111033385
|
0.00001
|
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)
|
rs753330544
|
0.00001
|
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter)
|
rs534534437
|
0.00001
|
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter)
|
rs111033334
|
0.00001
|
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)
|
rs1461319754
|
0.00001
|
NM_207352.4(CYP4V2):c.1393A>G (p.Arg465Gly)
|
rs144109267
|
0.00001
|
NM_213599.3(ANO5):c.1120-1G>A
|
rs561719071
|
0.00001
|
NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly)
|
rs137854524
|
0.00001
|
NM_213599.3(ANO5):c.139-1del
|
rs868484837
|
0.00001
|
NM_213599.3(ANO5):c.1406G>A (p.Trp469Ter)
|
rs765427574
|
0.00001
|
NM_213599.3(ANO5):c.2345C>G (p.Ser782Ter)
|
rs753138577
|
0.00001
|
NM_213599.3(ANO5):c.2470del (p.Gln824fs)
|
rs770694933
|
0.00001
|
NM_213599.3(ANO5):c.69C>A (p.Tyr23Ter)
|
rs762035813
|
0.00001
|
NC_000023.11:g.78195010_79012636del
|
|
|
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs)
|
rs387906297
|
|
NM_000016.6(ACADM):c.216+2T>G
|
rs398123073
|
|
NM_000016.6(ACADM):c.287-1G>C
|
rs794727694
|
|
NM_000016.6(ACADM):c.322_325del (p.Ile108fs)
|
rs875989873
|
|
NM_000016.6(ACADM):c.449_452del (p.Thr150fs)
|
rs786204642
|
|
NM_000016.6(ACADM):c.541_542del (p.Gly180_Asp181insTer)
|
rs1553123871
|
|
NM_000016.6(ACADM):c.927del (p.Phe309fs)
|
rs1557458562
|
|
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter)
|
rs1225471006
|
|
NM_000018.3(ACADVL):c.1375dup
|
rs796051916
|
|
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC
|
rs1057516686
|
|
NM_000018.4(ACADVL):c.1317dup (p.Met440fs)
|
rs1567567440
|
|
NM_000018.4(ACADVL):c.1389dup (p.Thr464fs)
|
rs398123082
|
|
NM_000018.4(ACADVL):c.1532+1G>A
|
rs727503794
|
|
NM_000018.4(ACADVL):c.298_299del (p.Gln100fs)
|
rs786204713
|
|
NM_000018.4(ACADVL):c.343del
|
rs387906249
|
|
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr)
|
rs140629318
|
|
NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter)
|
rs727503788
|
|
NM_000018.4(ACADVL):c.869dup (p.Ile291fs)
|
rs886044671
|
|
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del)
|
rs387906252
|
|
NM_000019.4(ACAT1):c.1006-4_1006-1delinsAAA
|
rs797044633
|
|
NM_000019.4(ACAT1):c.730+2T>C
|
rs398123096
|
|
NM_000019.4(ACAT1):c.905del (p.Lys302fs)
|
rs398123097
|
|
NM_000022.4(ADA):c.956_960del (p.Glu319fs)
|
rs771266745
|
|
NM_000023.4(SGCA):c.1039_1042dup (p.Ala348fs)
|
rs1598277713
|
|
NM_000023.4(SGCA):c.115_116insT (p.Thr39fs)
|
rs1567738897
|
|
NM_000023.4(SGCA):c.161del (p.Val54fs)
|
rs886044516
|
|
NM_000023.4(SGCA):c.168del (p.Ala57fs)
|
rs1555568264
|
|
NM_000023.4(SGCA):c.183dup (p.Tyr62fs)
|
rs886044688
|
|
NM_000023.4(SGCA):c.203del (p.Gly68fs)
|
rs1567739228
|
|
NM_000023.4(SGCA):c.317_318del (p.Thr106fs)
|
rs1567739735
|
|
NM_000023.4(SGCA):c.37+2C>G
|
rs112500642
|
|
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)
|
rs780264754
|
|
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter)
|
rs886043221
|
|
NM_000023.4(SGCA):c.676C>T (p.Gln226Ter)
|
rs1567741398
|
|
NM_000023.4(SGCA):c.747+1G>A
|
rs886043392
|
|
NM_000023.4(SGCA):c.770del (p.Pro257fs)
|
rs886043962
|
|
NM_000023.4(SGCA):c.892del (p.Leu298fs)
|
rs886044512
|
|
NM_000027.4(AGA):c.200_201del (p.Glu67fs)
|
rs386833420
|
|
NM_000033.4(ABCD1):c.1076_1077del (p.Glu359fs)
|
rs1569540883
|
|
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His)
|
rs886044777
|
|
NM_000033.4(ABCD1):c.1203del (p.Ile402fs)
|
rs1569541007
|
|
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp)
|
rs128624220
|
|
NM_000033.4(ABCD1):c.1288C>T (p.Gln430Ter)
|
rs797044726
|
|
NM_000033.4(ABCD1):c.1396C>T (p.Gln466Ter)
|
rs398123100
|
|
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs)
|
rs387906494
|
|
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)
|
rs128624224
|
|
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu)
|
rs1557054776
|
|
NM_000033.4(ABCD1):c.1661G>A (p.Arg554His)
|
rs201568579
|
|
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu)
|
rs398123105
|
|
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp)
|
rs398123106
|
|
NM_000033.4(ABCD1):c.1781-1G>A
|
rs797044781
|
|
NM_000033.4(ABCD1):c.1802G>A (p.Trp601Ter)
|
rs398123107
|
|
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys)
|
rs150346282
|
|
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His)
|
rs11146842
|
|
NM_000033.4(ABCD1):c.1866-10G>A
|
rs398123108
|
|
NM_000033.4(ABCD1):c.1992-2A>G
|
rs797044626
|
|
NM_000033.4(ABCD1):c.2006_2007del (p.His669fs)
|
rs797044625
|
|
NM_000033.4(ABCD1):c.253dup (p.Arg85fs)
|
rs713993050
|
|
NM_000033.4(ABCD1):c.31_46del (p.Arg11fs)
|
rs398123109
|
|
NM_000033.4(ABCD1):c.346G>A (p.Gly116Arg)
|
rs398123110
|
|
NM_000033.4(ABCD1):c.406C>T (p.Gln136Ter)
|
rs398123111
|
|
NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr)
|
rs193922097
|
|
NM_000033.4(ABCD1):c.498_520del (p.Val167fs)
|
rs398123112
|
|
NM_000033.4(ABCD1):c.529C>T (p.Gln177Ter)
|
rs1057516052
|
|
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg)
|
rs128624218
|
|
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys)
|
rs797044610
|
|
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys)
|
rs78340951
|
|
NM_000035.4(ALDOB):c.302del (p.Lys101fs)
|
rs974582114
|
|
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs)
|
rs387906225
|
|
NM_000036.3(AMPD1):c.35-7_35-4del
|
rs398123114
|
|
NM_000038.6(APC):c.1548+1G>C
|
rs1114167599
|
|
NM_000038.6(APC):c.1621C>T (p.Gln541Ter)
|
rs137854572
|
|
NM_000038.6(APC):c.1659G>A (p.Trp553Ter)
|
rs398123116
|
|
NM_000038.6(APC):c.2365C>T (p.Gln789Ter)
|
rs398123117
|
|
NM_000038.6(APC):c.2483del (p.Thr828fs)
|
rs886042600
|
|
NM_000038.6(APC):c.2547_2550del (p.Asp849fs)
|
rs398123118
|
|
NM_000038.6(APC):c.2563_2564del (p.Glu855fs)
|
rs794727160
|
|
NM_000038.6(APC):c.2731G>T (p.Glu911Ter)
|
rs398123119
|
|
NM_000038.6(APC):c.2805del (p.Thr934_Tyr935insTer)
|
rs398123120
|
|
NM_000038.6(APC):c.3088A>T (p.Lys1030Ter)
|
rs587779786
|
|
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer)
|
rs587779352
|
|
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs)
|
rs121913224
|
|
NM_000038.6(APC):c.3982C>T (p.Gln1328Ter)
|
rs398123121
|
|
NM_000038.6(APC):c.4348C>T (p.Arg1450Ter)
|
rs121913332
|
|
NM_000038.6(APC):c.4473dup (p.Ala1492fs)
|
rs398123122
|
|
NM_000046.5(ARSB):c.118_134del (p.Gly40fs)
|
rs398123123
|
|
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter)
|
rs367543005
|
|
NM_000049.4(ASPA):c.433-2A>G
|
rs63751297
|
|
NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter)
|
rs12948217
|
|
NM_000051.4(ATM):c.103C>T (p.Arg35Ter)
|
rs55861249
|
|
NM_000051.4(ATM):c.6228del (p.Leu2077fs)
|
rs786203008
|
|
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)
|
rs587776547
|
|
NM_000052.7(ATP7A):c.1205del (p.Lys402fs)
|
rs398123133
|
|
NM_000052.7(ATP7A):c.1974_1977dup (p.Phe660fs)
|
rs886044769
|
|
NM_000052.7(ATP7A):c.2694del (p.Ser899fs)
|
rs886044881
|
|
NM_000052.7(ATP7A):c.3802-1G>T
|
rs398123135
|
|
NM_000052.7(ATP7A):c.3915_3921del (p.Asp1305fs)
|
rs1557238590
|
|
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter)
|
rs151340633
|
|
NM_000053.4(ATP7B):c.1605_1609dup (p.Ile537fs)
|
rs886043238
|
|
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs)
|
rs753962912
|
|
NM_000053.4(ATP7B):c.2532del (p.Val845fs)
|
rs755709270
|
|
NM_000053.4(ATP7B):c.3664del (p.Asp1222fs)
|
rs886042519
|
|
NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter)
|
rs786204578
|
|
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter)
|
rs572147914
|
|
NM_000053.4(ATP7B):c.915T>A (p.Cys305Ter)
|
rs398123137
|
|
NM_000055.4(BCHE):c.100del (p.Ile34fs)
|
rs750309713
|
|
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs)
|
rs113993962
|
|
NM_000057.4(BLM):c.2407dup (p.Trp803fs)
|
rs367543012
|
|
NM_000057.4(BLM):c.2923del (p.Gln975fs)
|
rs367543014
|
|
NM_000059.3(BRCA2):c.156_157insAlu
|
|
|
NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs)
|
rs80359277
|
|
NM_000059.4(BRCA2):c.1929del (p.Arg645fs)
|
rs80359316
|
|
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)
|
rs80359405
|
|
NM_000059.4(BRCA2):c.3865_3868del (p.Lys1289fs)
|
rs80359412
|
|
NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs)
|
rs80359473
|
|
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)
|
rs80359530
|
|
NM_000059.4(BRCA2):c.5723_5727del (p.Leu1908fs)
|
rs794727014
|
|
NM_000059.4(BRCA2):c.5799_5802del (p.Asn1933fs)
|
rs80359538
|
|
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter)
|
rs80358809
|
|
NM_000059.4(BRCA2):c.6727_6728insAT (p.Ser2243fs)
|
rs1566235284
|
|
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)
|
rs28897743
|
|
NM_000059.4(BRCA2):c.9118-1G>A
|
rs886040950
|
|
NM_000067.3(CA2):c.232+1G>A
|
rs573750741
|
|
NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His)
|
rs28930068
|
|
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del)
|
rs863224965
|
|
NM_000070.3(CAPN3):c.1043del (p.Gly348fs)
|
rs781013226
|
|
NM_000070.3(CAPN3):c.1079G>A (p.Trp360Ter)
|
rs1555421280
|
|
NM_000070.3(CAPN3):c.1118G>A (p.Trp373Ter)
|
rs1555421523
|
|
NM_000070.3(CAPN3):c.1127G>A (p.Trp376Ter)
|
rs1555421524
|
|
NM_000070.3(CAPN3):c.1322del (p.Gly441fs)
|
rs1555421871
|
|
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg)
|
rs773827877
|
|
NM_000070.3(CAPN3):c.1355-1G>C
|
rs747557404
|
|
NM_000070.3(CAPN3):c.1373del (p.Pro458fs)
|
rs886043705
|
|
NM_000070.3(CAPN3):c.1524+2T>C
|
rs1555422145
|
|
NM_000070.3(CAPN3):c.1662C>G (p.Tyr554Ter)
|
rs752848213
|
|
NM_000070.3(CAPN3):c.1699G>T (p.Gly567Trp)
|
rs727503839
|
|
NM_000070.3(CAPN3):c.1743_1744del (p.Glu582fs)
|
rs886042573
|
|
NM_000070.3(CAPN3):c.1771del (p.Asp591fs)
|
rs754761503
|
|
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs)
|
rs80338803
|
|
NM_000070.3(CAPN3):c.1855C>T (p.Gln619Ter)
|
rs1566983844
|
|
NM_000070.3(CAPN3):c.1863dup (p.Glu622fs)
|
rs886044417
|
|
NM_000070.3(CAPN3):c.1957C>T (p.Gln653Ter)
|
rs886042927
|
|
NM_000070.3(CAPN3):c.1992+1G>T
|
rs863224961
|
|
NM_000070.3(CAPN3):c.1992+2T>A
|
rs775217052
|
|
NM_000070.3(CAPN3):c.1999dup (p.Glu667fs)
|
rs886044004
|
|
NM_000070.3(CAPN3):c.2036_2037del (p.Thr679fs)
|
rs886042418
|
|
NM_000070.3(CAPN3):c.2051-1G>T
|
rs886042108
|
|
NM_000070.3(CAPN3):c.2115+2T>C
|
rs1555423060
|
|
NM_000070.3(CAPN3):c.2179del (p.Trp727fs)
|
rs886042964
|
|
NM_000070.3(CAPN3):c.2235C>A (p.Tyr745Ter)
|
rs147774793
|
|
NM_000070.3(CAPN3):c.223dup (p.Tyr75fs)
|
rs398123146
|
|
NM_000070.3(CAPN3):c.2251_2254dup (p.Asn752fs)
|
rs398123147
|
|
NM_000070.3(CAPN3):c.2263+1G>A
|
rs886044475
|
|
NM_000070.3(CAPN3):c.2279dup (p.Asn760fs)
|
rs775130589
|
|
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs)
|
rs1555423217
|
|
NM_000070.3(CAPN3):c.2363delinsTCT (p.Arg788fs)
|
rs1555423219
|
|
NM_000070.3(CAPN3):c.237del (p.Glu79fs)
|
rs760205277
|
|
NM_000070.3(CAPN3):c.259_262del (p.Leu87fs)
|
rs763649825
|
|
NM_000070.3(CAPN3):c.319G>T (p.Glu107Ter)
|
rs1801505
|
|
NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs)
|
rs797045427
|
|
NM_000070.3(CAPN3):c.402del (p.Ile135fs)
|
rs746935735
|
|
NM_000070.3(CAPN3):c.503G>A (p.Trp168Ter)
|
rs1555420462
|
|
NM_000070.3(CAPN3):c.533T>C (p.Ile178Thr)
|
rs794727615
|
|
NM_000070.3(CAPN3):c.550del (p.Thr184fs)
|
rs80338800
|
|
NM_000070.3(CAPN3):c.580del (p.Ser194fs)
|
rs398123149
|
|
NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del)
|
rs727503837
|
|
NM_000070.3(CAPN3):c.639dup (p.Gly214fs)
|
rs886043222
|
|
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu)
|
rs1555420634
|
|
NM_000070.3(CAPN3):c.717del (p.Phe239fs)
|
rs776059672
|
|
NM_000070.3(CAPN3):c.717dup (p.Glu240Ter)
|
rs776059672
|
|
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del)
|
rs794727697
|
|
NM_000070.3(CAPN3):c.855_864dup (p.Arg289fs)
|
rs398123150
|
|
NM_000070.3(CAPN3):c.883_886delinsCTT (p.Asp295fs)
|
rs863224966
|
|
NM_000070.3(CAPN3):c.946-1_948del
|
rs766156798
|
|
NM_000071.3(CBS):c.1218del (p.Lys406fs)
|
rs794727083
|
|
NM_000071.3(CBS):c.1498_1499del (p.Ser500fs)
|
rs1555871188
|
|
NM_000071.3(CBS):c.969G>A (p.Trp323Ter)
|
rs863223432
|
|
NM_000074.3(CD40LG):c.347-2A>G
|
rs1569377237
|
|
NM_000077.5(CDKN2A):c.106dup (p.Ala36fs)
|
rs398123152
|
|
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp)
|
rs104894094
|
|
NM_000080.4(CHRNE):c.1093del (p.Ala365fs)
|
rs886043239
|
|
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs)
|
rs753828284
|
|
NM_000082.4(ERCC8):c.299dup (p.Tyr100Ter)
|
rs1554074581
|
|
NM_000085.5(CLCNKB):c.1166G>A (p.Trp389Ter)
|
rs1286624133
|
|
NM_000088.3(COL1A1):c.1301delG (p.Gly434Valfs)
|
rs1555573968
|
|
NM_000088.4(COL1A1):c.1452del (p.Gly485fs)
|
rs72648346
|
|
NM_000088.4(COL1A1):c.1678G>A (p.Gly560Ser)
|
rs67507747
|
|
NM_000088.4(COL1A1):c.1767+2T>G
|
rs794727394
|
|
NM_000088.4(COL1A1):c.1875+1G>C
|
rs72651622
|
|
NM_000088.4(COL1A1):c.2010del (p.Gly671fs)
|
rs72651634
|
|
NM_000088.4(COL1A1):c.2161C>T (p.Gln721Ter)
|
rs193922145
|
|
NM_000088.4(COL1A1):c.2991del (p.Gly998fs)
|
rs886042603
|
|
NM_000088.4(COL1A1):c.3061G>T (p.Glu1021Ter)
|
rs139593707
|
|
NM_000088.4(COL1A1):c.3065G>C (p.Gly1022Ala)
|
rs67771061
|
|
NM_000088.4(COL1A1):c.3162del (p.Gly1055fs)
|
rs72654794
|
|
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser)
|
rs67394386
|
|
NM_000088.4(COL1A1):c.3567del (p.Gly1190fs)
|
rs886042286
|
|
NM_000088.4(COL1A1):c.3939C>A (p.Tyr1313Ter)
|
rs886042609
|
|
NM_000088.4(COL1A1):c.472-1G>C
|
rs72667020
|
|
NM_000088.4(COL1A1):c.643-2A>G
|
rs886042602
|
|
NM_000088.4(COL1A1):c.896del (p.Gly299fs)
|
rs886042473
|
|
NM_000088.4(COL1A1):c.91C>T (p.Gln31Ter)
|
rs794726873
|
|
NM_000089.4(COL1A2):c.1550G>A (p.Gly517Asp)
|
rs1057516053
|
|
NM_000089.4(COL1A2):c.1801G>A (p.Gly601Ser)
|
rs72658143
|
|
NM_000089.4(COL1A2):c.1971+1G>A
|
rs72658151
|
|
NM_000089.4(COL1A2):c.2099G>A (p.Gly700Asp)
|
rs72658161
|
|
NM_000091.5(COL4A3):c.2768_2778del (p.Val923fs)
|
rs766306957
|
|
NM_000093.5(COL5A1):c.1207G>T (p.Glu403Ter)
|
rs886043641
|
|
NM_000093.5(COL5A1):c.1663-1G>C
|
rs794727114
|
|
NM_000093.5(COL5A1):c.2034+1G>A
|
rs886042173
|
|
NM_000093.5(COL5A1):c.4184del (p.Pro1395fs)
|
rs794727760
|
|
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs)
|
rs397509431
|
|
NM_000101.4(CYBA):c.415del (p.Arg139fs)
|
rs1567607736
|
|
NM_000104.4(CYP1B1):c.1200_1209dup (p.Thr404fs)
|
rs587778873
|
|
NM_000104.4(CYP1B1):c.868dup (p.Arg290fs)
|
rs587778875
|
|
NM_000109.4(DMD):c.10530-1dup
|
rs1555998436
|
|
NM_000112.4(SLC26A2):c.1011TGT[3] (p.Val341del)
|
rs121908077
|
|
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del)
|
rs80358233
|
|
NM_000117.3(EMD):c.130C>T (p.Gln44Ter)
|
rs132630262
|
|
NM_000117.3(EMD):c.239_240insT (p.Glu80fs)
|
rs398123155
|
|
NM_000117.3(EMD):c.251_255del (p.Leu84fs)
|
rs782452523
|
|
NM_000117.3(EMD):c.266-2A>G
|
rs727503036
|
|
NM_000117.3(EMD):c.355C>T (p.Gln119Ter)
|
rs398123157
|
|
NM_000117.3(EMD):c.3G>A (p.Met1Ile)
|
rs886044771
|
|
NM_000117.3(EMD):c.430G>T (p.Glu144Ter)
|
rs1557182560
|
|
NM_000117.3(EMD):c.450-2A>G
|
rs398123158
|
|
NM_000117.3(EMD):c.468_471del (p.Arg157fs)
|
rs1569552102
|
|
NM_000117.3(EMD):c.484C>T (p.Gln162Ter)
|
rs1557182611
|
|
NM_000117.3(EMD):c.512C>A (p.Ser171Ter)
|
rs886044901
|
|
NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs)
|
rs776969626
|
|
NM_000135.4(FANCA):c.793-1G>A
|
rs1567642367
|
|
NM_000137.4(FAH):c.456G>A (p.Trp152Ter)
|
rs370686447
|
|
NM_000138.4(FBN1):c.5593_5594dup (p.Ile1866fs)
|
rs886043709
|
|
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg)
|
rs140593
|
|
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)
|
rs111401431
|
|
NM_000138.5(FBN1):c.5284G>A (p.Gly1762Ser)
|
rs387906623
|
|
NM_000138.5(FBN1):c.6682dup (p.Tyr2228fs)
|
rs886044547
|
|
NM_000138.5(FBN1):c.7016_7031dup (p.Gln2345fs)
|
rs1597518081
|
|
NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys)
|
rs121918494
|
|
NM_000141.5(FGFR2):c.1141T>G (p.Tyr381Asp)
|
rs387906678
|
|
NM_000141.5(FGFR2):c.1922A>G (p.Lys641Arg)
|
rs1057519047
|
|
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys)
|
rs121913485
|
|
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)
|
rs28931614
|
|
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.1620C>G (p.Asn540Lys)
|
rs28933068
|
|
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)
|
rs121913482
|
|
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)
|
rs4647924
|
|
NM_000142.5(FGFR3):c.835A>T (p.Ser279Cys)
|
rs121913114
|
|
NM_000143.4(FH):c.1027C>T (p.Arg343Ter)
|
rs121913122
|
|
NM_000143.4(FH):c.1067T>A (p.Leu356Ter)
|
rs727503927
|
|
NM_000143.4(FH):c.1126C>T (p.Gln376Ter)
|
rs398123160
|
|
NM_000143.4(FH):c.1200del (p.Asn400fs)
|
rs398123162
|
|
NM_000143.4(FH):c.1293del (p.Glu432fs)
|
rs398123163
|
|
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)
|
rs367543046
|
|
NM_000143.4(FH):c.1446_1449del (p.Glu484fs)
|
rs398123165
|
|
NM_000143.4(FH):c.320A>C (p.Asn107Thr)
|
rs121913121
|
|
NM_000143.4(FH):c.556-1G>C
|
rs794727698
|
|
NM_000143.4(FH):c.737del (p.Gln246fs)
|
rs727503928
|
|
NM_000143.4(FH):c.760C>T (p.Gln254Ter)
|
rs398123167
|
|
NM_000143.4(FH):c.912_918del (p.Phe305fs)
|
rs794727836
|
|
NM_000143.4(FH):c.952C>T (p.His318Tyr)
|
rs398123168
|
|
NM_000147.5(FUCA1):c.1125G>A (p.Trp375Ter)
|
rs794727774
|
|
NM_000151.4(G6PC1):c.258G>A (p.Trp86Ter)
|
rs142917638
|
|
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs)
|
rs80356488
|
|
NM_000151.4(G6PC1):c.79del (p.Gln27fs)
|
rs80356479
|
|
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter)
|
rs780226142
|
|
NM_000152.5(GAA):c.1030_1031del (p.Gly344fs)
|
rs1567829962
|
|
NM_000152.5(GAA):c.1051del (p.Val351fs)
|
rs786204507
|
|
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu)
|
rs142752477
|
|
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs)
|
rs786204646
|
|
NM_000152.5(GAA):c.1130del (p.Gly377fs)
|
rs754134578
|
|
NM_000152.5(GAA):c.1134C>G (p.Tyr378Ter)
|
rs1567830317
|
|
NM_000152.5(GAA):c.1143del (p.Ala382fs)
|
rs757458607
|
|
NM_000152.5(GAA):c.1153del (p.Arg385fs)
|
rs1555600102
|
|
NM_000152.5(GAA):c.1438-1G>C
|
rs147804176
|
|
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn)
|
rs398123169
|
|
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala)
|
rs892129065
|
|
NM_000152.5(GAA):c.1802C>A (p.Ser601Ter)
|
rs374470794
|
|
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys)
|
rs369531647
|
|
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe)
|
rs1024137874
|
|
NM_000152.5(GAA):c.2012T>G (p.Met671Arg)
|
rs398123170
|
|
NM_000152.5(GAA):c.2066_2070dup (p.Ala691fs)
|
rs398123171
|
|
NM_000152.5(GAA):c.2078dup (p.Ala694fs)
|
rs730880372
|
|
NM_000152.5(GAA):c.2140del (p.His714fs)
|
rs786204549
|
|
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter)
|
rs752921215
|
|
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter)
|
rs1800312
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
NM_000152.5(GAA):c.2242dup (p.Glu748fs)
|
rs777275355
|
|
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs)
|
rs886043343
|
|
NM_000152.5(GAA):c.2544del (p.Lys849fs)
|
rs398123173
|
|
NM_000152.5(GAA):c.258dup (p.Asn87fs)
|
rs761317813
|
|
NM_000152.5(GAA):c.2655_2656del (p.Val886fs)
|
rs1555603219
|
|
NM_000152.5(GAA):c.379_380del (p.Cys127fs)
|
rs1207988953
|
|
NM_000152.5(GAA):c.482_483del (p.Pro161fs)
|
rs764750389
|
|
NM_000152.5(GAA):c.546G>C (p.Thr182=)
|
rs143523371
|
|
NM_000152.5(GAA):c.736del (p.Leu246fs)
|
rs886043920
|
|
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs)
|
rs786204532
|
|
NM_000152.5(GAA):c.934del (p.Leu312fs)
|
rs886042358
|
|
NM_000153.3(GALC):c.243_244dup (p.Ile82Argfs)
|
rs886043419
|
|
NM_000153.4(GALC):c.1158_1161+6del
|
rs759068540
|
|
NM_000153.4(GALC):c.1161+2T>G
|
rs398123175
|
|
NM_000153.4(GALC):c.1488_1489+2del
|
rs1555379355
|
|
NM_000153.4(GALC):c.1665C>G (p.Tyr555Ter)
|
rs1566972341
|
|
NM_000153.4(GALC):c.658C>T (p.Arg220Ter)
|
rs766310671
|
|
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
|
|
|
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn)
|
rs111033836
|
|
NM_000155.4(GALT):c.1052del (p.Pro351fs)
|
rs111033813
|
|
NM_000155.4(GALT):c.1060-1G>A
|
rs367543268
|
|
NM_000155.4(GALT):c.118G>A (p.Glu40Lys)
|
rs886042060
|
|
NM_000155.4(GALT):c.221T>C (p.Leu74Pro)
|
rs111033663
|
|
NM_000155.4(GALT):c.290A>G (p.Asn97Ser)
|
rs111033669
|
|
NM_000155.4(GALT):c.292G>C (p.Asp98His)
|
rs111033670
|
|
NM_000155.4(GALT):c.367C>T (p.Arg123Ter)
|
rs111033674
|
|
NM_000155.4(GALT):c.41delinsTT (p.Ala14fs)
|
rs111033634
|
|
NM_000155.4(GALT):c.445dup (p.Ala149fs)
|
rs786200978
|
|
NM_000155.4(GALT):c.508-1G>C
|
rs398123181
|
|
NM_000155.4(GALT):c.513del (p.Phe171fs)
|
rs886044409
|
|
NM_000155.4(GALT):c.562C>T (p.Gln188Ter)
|
rs398123182
|
|
NM_000155.4(GALT):c.564+1G>A
|
rs111033723
|
|
NM_000155.4(GALT):c.565_578del
|
|
|
NM_000155.4(GALT):c.598del (p.Gln200fs)
|
rs111033738
|
|
NM_000155.4(GALT):c.619C>T (p.Gln207Ter)
|
rs111033743
|
|
NM_000155.4(GALT):c.634C>T (p.Gln212Ter)
|
rs111033746
|
|
NM_000155.4(GALT):c.71_72insA (p.Phe24fs)
|
rs886042061
|
|
NM_000155.4(GALT):c.82+2del
|
rs794726876
|
|
NM_000155.4(GALT):c.820+13A>G
|
rs111033768
|
|
NM_000155.4(GALT):c.904+1G>T
|
rs367543271
|
|
NM_000155.4(GALT):c.905-1G>A
|
rs794726971
|
|
NM_000155.4(GALT):c.905-2A>G
|
rs398123187
|
|
NM_000155.4(GALT):c.957C>A (p.His319Gln)
|
rs111033792
|
|
NM_000155.4(GALT):c.997C>T (p.Arg333Trp)
|
rs111033800
|
|
NM_000157.4(GBA1):c.1060G>C (p.Asp354His)
|
rs398123526
|
|
NM_000157.4(GBA1):c.1171G>C (p.Val391Leu)
|
rs398123527
|
|
NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter)
|
rs121908309
|
|
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs)
|
rs80356768
|
|
NM_000157.4(GBA1):c.1348T>A (p.Phe450Ile)
|
rs1553216985
|
|
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)
|
rs421016
|
|
NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg)
|
rs421016
|
|
NM_000157.4(GBA1):c.354G>C (p.Lys118Asn)
|
rs121908312
|
|
NM_000157.4(GBA1):c.487del (p.Ala163fs)
|
rs398123529
|
|
NM_000157.4(GBA1):c.508C>T (p.Arg170Cys)
|
rs398123530
|
|
NM_000157.4(GBA1):c.580A>T (p.Lys194Ter)
|
rs886042192
|
|
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser)
|
rs80338671
|
|
NM_000159.4(GCDH):c.271+1G>A
|
rs786204639
|
|
NM_000159.4(GCDH):c.542A>G (p.Glu181Gly)
|
rs398123194
|
|
NM_000159.4(GCDH):c.883T>C (p.Tyr295His)
|
rs121434366
|
|
NM_000162.5(GCK):c.118G>A (p.Glu40Lys)
|
rs794727236
|
|
NM_000162.5(GCK):c.544G>A (p.Val182Met)
|
rs587780345
|
|
NM_000162.5(GCK):c.76C>T (p.Gln26Ter)
|
rs193922329
|
|
NM_000162.5(GCK):c.770G>A (p.Trp257Ter)
|
rs1562715426
|
|
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter)
|
rs104894814
|
|
NM_000168.6(GLI3):c.1002T>A (p.Tyr334Ter)
|
rs760303531
|
|
NM_000169.3(GLA):c.1019_1020insA (p.Trp340Ter)
|
rs398123197
|
|
NM_000169.3(GLA):c.101A>G (p.Asn34Ser)
|
rs104894835
|
|
NM_000169.3(GLA):c.1020G>A (p.Trp340Ter)
|
rs104894842
|
|
NM_000169.3(GLA):c.1023del (p.Glu341fs)
|
rs886044909
|
|
NM_000169.3(GLA):c.1024C>T (p.Arg342Ter)
|
rs104894843
|
|
NM_000169.3(GLA):c.1033_1034del (p.Ser345fs)
|
rs398123198
|
|
NM_000169.3(GLA):c.1057_1058del (p.Met353fs)
|
rs886044829
|
|
NM_000169.3(GLA):c.1069C>T (p.Gln357Ter)
|
rs869312223
|
|
NM_000169.3(GLA):c.1072G>A (p.Glu358Lys)
|
rs797044774
|
|
NM_000169.3(GLA):c.1072_1074del (p.Glu358del)
|
rs730880453
|
|
NM_000169.3(GLA):c.1077del (p.Ile359fs)
|
rs1569302692
|
|
NM_000169.3(GLA):c.1118G>A (p.Gly373Asp)
|
rs869312227
|
|
NM_000169.3(GLA):c.1157A>C (p.Gln386Pro)
|
rs797044775
|
|
NM_000169.3(GLA):c.1166del (p.Pro389fs)
|
rs886044846
|
|
NM_000169.3(GLA):c.118C>T (p.Pro40Ser)
|
rs104894831
|
|
NM_000169.3(GLA):c.1235_1236del (p.Thr412fs)
|
rs797044777
|
|
NM_000169.3(GLA):c.1246C>T (p.Gln416Ter)
|
rs869312247
|
|
NM_000169.3(GLA):c.124A>G (p.Met42Val)
|
rs797044613
|
|
NM_000169.3(GLA):c.125T>C (p.Met42Thr)
|
rs398123201
|
|
NM_000169.3(GLA):c.126G>C (p.Met42Ile)
|
rs1569306108
|
|
NM_000169.3(GLA):c.128del (p.Gly43fs)
|
rs797044500
|
|
NM_000169.3(GLA):c.132G>A (p.Trp44Ter)
|
rs398123202
|
|
NM_000169.3(GLA):c.137A>G (p.His46Arg)
|
rs398123203
|
|
NM_000169.3(GLA):c.137A>T (p.His46Leu)
|
rs398123203
|
|
NM_000169.3(GLA):c.154T>C (p.Cys52Arg)
|
rs1057521047
|
|
NM_000169.3(GLA):c.188G>A (p.Cys63Tyr)
|
rs1569306022
|
|
NM_000169.3(GLA):c.195-1G>C
|
rs398123206
|
|
NM_000169.3(GLA):c.195-1G>T
|
rs398123206
|
|
NM_000169.3(GLA):c.19G>T (p.Glu7Ter)
|
rs398123207
|
|
NM_000169.3(GLA):c.235G>T (p.Glu79Ter)
|
rs730880443
|
|
NM_000169.3(GLA):c.242G>A (p.Trp81Ter)
|
rs398123208
|
|
NM_000169.3(GLA):c.265del (p.Leu89fs)
|
rs1555986307
|
|
NM_000169.3(GLA):c.272T>C (p.Ile91Thr)
|
rs869312141
|
|
NM_000169.3(GLA):c.274G>A (p.Asp92Asn)
|
rs886041315
|
|
NM_000169.3(GLA):c.274G>T (p.Asp92Tyr)
|
rs886041315
|
|
NM_000169.3(GLA):c.281G>A (p.Cys94Tyr)
|
rs113173389
|
|
NM_000169.3(GLA):c.285G>A (p.Trp95Ter)
|
rs886044900
|
|
NM_000169.3(GLA):c.290C>T (p.Ala97Val)
|
rs1569304867
|
|
NM_000169.3(GLA):c.295del (p.Gln99fs)
|
rs886039136
|
|
NM_000169.3(GLA):c.295dup (p.Gln99fs)
|
rs886039136
|
|
NM_000169.3(GLA):c.2T>C (p.Met1Thr)
|
rs1555987232
|
|
NM_000169.3(GLA):c.334C>T (p.Arg112Cys)
|
rs104894834
|
|
NM_000169.3(GLA):c.361_364del (p.Ala121fs)
|
rs797044670
|
|
NM_000169.3(GLA):c.369+1G>A
|
rs797044669
|
|
NM_000169.3(GLA):c.394G>A (p.Gly132Arg)
|
rs1555985855
|
|
NM_000169.3(GLA):c.422C>T (p.Thr141Ile)
|
rs886044843
|
|
NM_000169.3(GLA):c.424T>C (p.Cys142Arg)
|
rs886044845
|
|
NM_000169.3(GLA):c.427G>C (p.Ala143Pro)
|
rs104894845
|
|
NM_000169.3(GLA):c.443G>A (p.Ser148Asn)
|
rs1555985829
|
|
NM_000169.3(GLA):c.456C>A (p.Tyr152Ter)
|
rs1555985827
|
|
NM_000169.3(GLA):c.469C>T (p.Gln157Ter)
|
rs797044702
|
|
NM_000169.3(GLA):c.485G>A (p.Trp162Ter)
|
rs727504350
|
|
NM_000169.3(GLA):c.509A>G (p.Asp170Gly)
|
rs398123210
|
|
NM_000169.3(GLA):c.547G>A (p.Gly183Ser)
|
rs869312324
|
|
NM_000169.3(GLA):c.548-2A>G
|
rs398123211
|
|
NM_000169.3(GLA):c.548G>T (p.Gly183Val)
|
rs398123212
|
|
NM_000169.3(GLA):c.59_72dup (p.Asp25fs)
|
rs1555987175
|
|
NM_000169.3(GLA):c.59_84del (p.Ala20fs)
|
rs1555987162
|
|
NM_000169.3(GLA):c.605G>A (p.Cys202Tyr)
|
rs869312344
|
|
NM_000169.3(GLA):c.613C>A (p.Pro205Thr)
|
rs397515870
|
|
NM_000169.3(GLA):c.620A>G (p.Tyr207Cys)
|
rs797044727
|
|
NM_000169.3(GLA):c.622_623del (p.Met208fs)
|
rs1064796601
|
|
NM_000169.3(GLA):c.630del (p.Gln212fs)
|
rs398123214
|
|
NM_000169.3(GLA):c.640-1G>A
|
rs398123216
|
|
NM_000169.3(GLA):c.640-1G>T
|
rs398123216
|
|
NM_000169.3(GLA):c.647A>G (p.Tyr216Cys)
|
rs398123217
|
|
NM_000169.3(GLA):c.658C>T (p.Arg220Ter)
|
rs727503949
|
|
NM_000169.3(GLA):c.661C>T (p.Gln221Ter)
|
rs797044747
|
|
NM_000169.3(GLA):c.662_663del (p.Gln221fs)
|
rs398123218
|
|
NM_000169.3(GLA):c.666C>A (p.Tyr222Ter)
|
rs104894851
|
|
NM_000169.3(GLA):c.670A>G (p.Asn224Asp)
|
rs1555985175
|
|
NM_000169.3(GLA):c.677G>A (p.Trp226Ter)
|
rs398123219
|
|
NM_000169.3(GLA):c.680G>A (p.Arg227Gln)
|
rs104894840
|
|
NM_000169.3(GLA):c.704C>G (p.Ser235Cys)
|
rs797044746
|
|
NM_000169.3(GLA):c.706T>A (p.Trp236Arg)
|
rs1555985148
|
|
NM_000169.3(GLA):c.718_719del (p.Lys240fs)
|
rs869312389
|
|
NM_000169.3(GLA):c.734G>A (p.Trp245Ter)
|
rs398123220
|
|
NM_000169.3(GLA):c.735G>A (p.Trp245Ter)
|
rs1060500747
|
|
NM_000169.3(GLA):c.748C>T (p.Gln250Ter)
|
rs398123221
|
|
NM_000169.3(GLA):c.776C>G (p.Pro259Arg)
|
rs869312399
|
|
NM_000169.3(GLA):c.777del (p.Gly261fs)
|
rs1569303213
|
|
NM_000169.3(GLA):c.785G>A (p.Trp262Ter)
|
rs869312402
|
|
NM_000169.3(GLA):c.791A>T (p.Asp264Val)
|
rs28935486
|
|
NM_000169.3(GLA):c.797A>T (p.Asp266Val)
|
rs28935487
|
|
NM_000169.3(GLA):c.800del (p.Met267fs)
|
rs1569303189
|
|
NM_000169.3(GLA):c.801+3A>G
|
rs797044748
|
|
NM_000169.3(GLA):c.801G>A (p.Met267Ile)
|
rs730880451
|
|
NM_000169.3(GLA):c.802-2A>G
|
rs797044499
|
|
NM_000169.3(GLA):c.802-3_802-2del
|
rs797044498
|
|
NM_000169.3(GLA):c.80del (p.Pro27fs)
|
rs730880454
|
|
NM_000169.3(GLA):c.826A>G (p.Ser276Gly)
|
rs869312432
|
|
NM_000169.3(GLA):c.830G>A (p.Trp277Ter)
|
rs886044766
|
|
NM_000169.3(GLA):c.842_844del (p.Val281_Thr282delinsAla)
|
rs1555985004
|
|
NM_000169.3(GLA):c.847C>T (p.Gln283Ter)
|
rs730880452
|
|
NM_000169.3(GLA):c.848dup (p.Met284fs)
|
rs1555985002
|
|
NM_000169.3(GLA):c.861G>T (p.Trp287Cys)
|
rs104894839
|
|
NM_000169.3(GLA):c.865A>T (p.Ile289Phe)
|
rs140329381
|
|
NM_000169.3(GLA):c.879_880delinsAATC (p.Leu294fs)
|
rs797044769
|
|
NM_000169.3(GLA):c.886A>G (p.Met296Val)
|
rs104894830
|
|
NM_000169.3(GLA):c.899T>C (p.Leu300Pro)
|
rs398123223
|
|
NM_000169.3(GLA):c.901C>T (p.Arg301Ter)
|
rs398123224
|
|
NM_000169.3(GLA):c.902G>A (p.Arg301Gln)
|
rs104894828
|
|
NM_000169.3(GLA):c.916C>T (p.Gln306Ter)
|
rs797044768
|
|
NM_000169.3(GLA):c.959_962del (p.Asn320fs)
|
rs398123225
|
|
NM_000169.3(GLA):c.95T>C (p.Leu32Pro)
|
rs1569306168
|
|
NM_000169.3(GLA):c.966C>A (p.Asp322Glu)
|
rs398123226
|
|
NM_000169.3(GLA):c.966C>G (p.Asp322Glu)
|
rs398123226
|
|
NM_000169.3(GLA):c.974G>A (p.Gly325Asp)
|
rs398123228
|
|
NM_000169.3(GLA):c.979C>T (p.Gln327Ter)
|
rs28935491
|
|
NM_000169.3(GLA):c.982G>A (p.Gly328Arg)
|
rs104894832
|
|
NM_000169.3(GLA):c.982G>C (p.Gly328Arg)
|
rs104894832
|
|
NM_000169.3(GLA):c.983G>C (p.Gly328Ala)
|
rs28935492
|
|
NM_000169.3(GLA):c.996_999del (p.Gln333fs)
|
rs398123229
|
|
NM_000169.3(GLA):c.999+2T>C
|
rs886044860
|
|
NM_000170.3(GLDC):c.2423_2426dup (p.Ile810fs)
|
rs755313904
|
|
NM_000174.5(GP9):c.70T>C (p.Cys24Arg)
|
rs28933378
|
|
NM_000179.3(MSH6):c.2062_2063del (p.Val688fs)
|
rs63750075
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3311_3312del (p.Phe1104fs)
|
rs267608092
|
|
NM_000179.3(MSH6):c.3477C>A (p.Tyr1159Ter)
|
rs398123231
|
|
NM_000179.3(MSH6):c.3516_3517del (p.Arg1172fs)
|
rs398123232
|
|
NM_000180.4(GUCY2D):c.1773del (p.Asn591fs)
|
rs794727952
|
|
NM_000180.4(GUCY2D):c.571C>T (p.Gln191Ter)
|
rs768390959
|
|
NM_000181.4(GUSB):c.328C>T (p.Arg110Ter)
|
rs1053785648
|
|
NM_000181.4(GUSB):c.866G>A (p.Trp289Ter)
|
rs398123238
|
|
NM_000182.5(HADHA):c.157C>T (p.Arg53Ter)
|
rs147103714
|
|
NM_000182.5(HADHA):c.1918C>T (p.Gln640Ter)
|
rs794727198
|
|
NM_000182.5(HADHA):c.2146+1G>A
|
rs794727219
|
|
NM_000182.5(HADHA):c.274_278del (p.Ser92fs)
|
rs781205883
|
|
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs)
|
rs786205431
|
|
NM_000193.4(SHH):c.1018G>T (p.Glu340Ter)
|
rs1563198990
|
|
NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter)
|
rs137852494
|
|
NM_000194.3(HPRT1):c.212dup (p.Tyr72fs)
|
rs786200980
|
|
NM_000194.3(HPRT1):c.384+1G>A
|
rs398123240
|
|
NM_000194.3(HPRT1):c.486-1G>A
|
rs398123241
|
|
NM_000194.3(HPRT1):c.532+2T>G
|
rs727503964
|
|
NM_000194.3(HPRT1):c.580G>C (p.Asp194His)
|
rs267606863
|
|
NM_000194.3(HPRT1):c.643_*7del (p.Lys215fs)
|
rs1556030344
|
|
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs)
|
rs281865163
|
|
NM_000199.5(SGSH):c.1027dup (p.Leu343fs)
|
rs778700037
|
|
NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer)
|
rs752914124
|
|
NM_000202.8(IDS):c.1007-8T>G
|
rs797044782
|
|
NM_000202.8(IDS):c.103+1G>C
|
rs398123247
|
|
NM_000202.8(IDS):c.1148del (p.Pro383fs)
|
rs797044502
|
|
NM_000202.8(IDS):c.1265G>T (p.Cys422Phe)
|
rs886044835
|
|
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp)
|
rs199422231
|
|
NM_000202.8(IDS):c.1403G>C (p.Arg468Pro)
|
rs113993946
|
|
NM_000202.8(IDS):c.1591C>T (p.Gln531Ter)
|
rs886044837
|
|
NM_000202.8(IDS):c.208dup (p.His70fs)
|
rs797044671
|
|
NM_000202.8(IDS):c.252C>A (p.Cys84Ter)
|
rs1557340286
|
|
NM_000202.8(IDS):c.253G>A (p.Ala85Thr)
|
rs113993949
|
|
NM_000202.8(IDS):c.262C>T (p.Arg88Cys)
|
rs398123249
|
|
NM_000202.8(IDS):c.314_317dup (p.Ser107fs)
|
rs797044703
|
|
NM_000202.8(IDS):c.404_405del (p.Lys135fs)
|
rs1557340221
|
|
NM_000202.8(IDS):c.587T>C (p.Leu196Ser)
|
rs398123250
|
|
NM_000202.8(IDS):c.597del (p.Lys199fs)
|
rs398123251
|
|
NM_000202.8(IDS):c.690_691insT (p.Pro231fs)
|
rs797044750
|
|
NM_000202.8(IDS):c.832_833insATGTTTAAGGGAAG (p.Ala278delinsAspValTer)
|
rs797044770
|
|
NM_000202.8(IDS):c.998C>T (p.Ser333Leu)
|
rs104894853
|
|
NM_000203.5(IDUA):c.1402+1G>C
|
rs398123254
|
|
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)
|
rs121965027
|
|
NM_000203.5(IDUA):c.164del (p.Pro55fs)
|
rs727503966
|
|
NM_000203.5(IDUA):c.1650+5G>A
|
rs398123256
|
|
NM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer)
|
rs398123258
|
|
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp)
|
rs886043347
|
|
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del)
|
rs398123260
|
|
NM_000203.5(IDUA):c.494-1G>C
|
rs794727701
|
|
NM_000203.5(IDUA):c.501C>G (p.Tyr167Ter)
|
rs200726100
|
|
NM_000203.5(IDUA):c.972+1G>A
|
rs794727840
|
|
NM_000207.3(INS):c.188-31G>A
|
rs797045623
|
|
NM_000208.4(INSR):c.350_353del (p.Asn117fs)
|
rs1347163319
|
|
NM_000213.5(ITGB4):c.2763C>A (p.Tyr921Ter)
|
rs1568366397
|
|
NM_000213.5(ITGB4):c.4642_4645del (p.Trp1548fs)
|
rs1568385656
|
|
NM_000214.2(JAG1):c.358dup (p.Ile120Asnfs)
|
rs1555830922
|
|
NM_000214.3(JAG1):c.100C>T (p.Gln34Ter)
|
rs1555830976
|
|
NM_000214.3(JAG1):c.1037_1056dup (p.Glu353fs)
|
rs886043451
|
|
NM_000214.3(JAG1):c.1207C>T (p.Gln403Ter)
|
rs794727953
|
|
NM_000214.3(JAG1):c.1218_1219insGA (p.Lys407fs)
|
rs886044604
|
|
NM_000214.3(JAG1):c.1325G>A (p.Trp442Ter)
|
rs1568796883
|
|
NM_000214.3(JAG1):c.1326G>A (p.Trp442Ter)
|
rs794726974
|
|
NM_000214.3(JAG1):c.1346_1347del (p.Ile449fs)
|
rs1555828770
|
|
NM_000214.3(JAG1):c.1395+3A>G
|
rs886044220
|
|
NM_000214.3(JAG1):c.1396-2A>G
|
rs1568796298
|
|
NM_000214.3(JAG1):c.1452_1453del (p.Cys484_Glu485delinsTer)
|
rs1568796236
|
|
NM_000214.3(JAG1):c.1459_1460insGA (p.Asp487fs)
|
rs1555828652
|
|
NM_000214.3(JAG1):c.1485_1486del (p.Cys496fs)
|
rs876660981
|
|
NM_000214.3(JAG1):c.1528C>T (p.Gln510Ter)
|
rs1568796158
|
|
NM_000214.3(JAG1):c.1720+1del
|
rs886044349
|
|
NM_000214.3(JAG1):c.173_176del (p.Ala58fs)
|
rs886043130
|
|
NM_000214.3(JAG1):c.1899_1900del (p.Cys633_Glu634delinsTer)
|
rs1555828321
|
|
NM_000214.3(JAG1):c.203dup (p.Asp69fs)
|
rs1568807044
|
|
NM_000214.3(JAG1):c.2096_2100del (p.Gly699fs)
|
rs886039393
|
|
NM_000214.3(JAG1):c.2118_2119del (p.Asp706fs)
|
rs1568794159
|
|
NM_000214.3(JAG1):c.2122C>T (p.Gln708Ter)
|
rs886044136
|
|
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs)
|
rs727504412
|
|
NM_000214.3(JAG1):c.2225_2226del (p.Ile742fs)
|
rs1555828209
|
|
NM_000214.3(JAG1):c.2230C>T (p.Arg744Ter)
|
rs863223655
|
|
NM_000214.3(JAG1):c.2270dup (p.Thr758fs)
|
rs886043605
|
|
NM_000214.3(JAG1):c.2310C>A (p.Cys770Ter)
|
rs886043904
|
|
NM_000214.3(JAG1):c.2322G>A (p.Trp774Ter)
|
rs1555828173
|
|
NM_000214.3(JAG1):c.2345-1G>A
|
rs1568793670
|
|
NM_000214.3(JAG1):c.2424T>A (p.Cys808Ter)
|
rs1568793265
|
|
NM_000214.3(JAG1):c.2458+2_2458+5del
|
rs1568793232
|
|
NM_000214.3(JAG1):c.2530_2552delinsGCACAT (p.Cys844fs)
|
rs1600179847
|
|
NM_000214.3(JAG1):c.2601_2603delinsTGATGCA (p.Ser868fs)
|
rs1568792344
|
|
NM_000214.3(JAG1):c.2682+1G>T
|
rs1568792238
|
|
NM_000214.3(JAG1):c.2689_2693del (p.Cys897fs)
|
rs1555827790
|
|
NM_000214.3(JAG1):c.2706C>A (p.Cys902Ter)
|
rs886043869
|
|
NM_000214.3(JAG1):c.270dup (p.Pro91fs)
|
rs863223667
|
|
NM_000214.3(JAG1):c.2727_2728dup (p.Glu910fs)
|
rs1600179237
|
|
NM_000214.3(JAG1):c.2728dup (p.Glu910fs)
|
rs886042155
|
|
NM_000214.3(JAG1):c.2743C>T (p.Gln915Ter)
|
rs1568792125
|
|
NM_000214.3(JAG1):c.2830del (p.Pro943_Val944insTer)
|
rs1555827760
|
|
NM_000214.3(JAG1):c.2966dup (p.Leu989fs)
|
rs1555827729
|
|
NM_000214.3(JAG1):c.3007_3017dup (p.Ala1008fs)
|
rs1600178720
|
|
NM_000214.3(JAG1):c.3009_3025dup (p.Asn1009fs)
|
rs1555827717
|
|
NM_000214.3(JAG1):c.3048+1G>A
|
rs876661121
|
|
NM_000214.3(JAG1):c.3048+1G>T
|
rs876661121
|
|
NM_000214.3(JAG1):c.30del (p.Arg12fs)
|
rs1568807483
|
|
NM_000214.3(JAG1):c.3164_3167del (p.Val1055fs)
|
rs1555827653
|
|
NM_000214.3(JAG1):c.3165_3184del (p.Arg1056fs)
|
rs1568791393
|
|
NM_000214.3(JAG1):c.3213dup (p.Leu1073fs)
|
rs1568791022
|
|
NM_000214.3(JAG1):c.390dup (p.Ser131fs)
|
rs886044111
|
|
NM_000214.3(JAG1):c.3G>A (p.Met1Ile)
|
rs1555831014
|
|
NM_000214.3(JAG1):c.41del (p.Leu14fs)
|
rs1568807463
|
|
NM_000214.3(JAG1):c.439+1G>A
|
rs863223648
|
|
NM_000214.3(JAG1):c.439C>T (p.Gln147Ter)
|
rs886043606
|
|
NM_000214.3(JAG1):c.459_460insT (p.Lys154Ter)
|
rs1568801096
|
|
NM_000214.3(JAG1):c.500G>A (p.Trp167Ter)
|
rs1568801068
|
|
NM_000214.3(JAG1):c.550C>T (p.Arg184Cys)
|
rs121918350
|
|
NM_000214.3(JAG1):c.551G>A (p.Arg184His)
|
rs121918351
|
|
NM_000214.3(JAG1):c.703C>T (p.Arg235Ter)
|
rs876660980
|
|
NM_000214.3(JAG1):c.756-1G>T
|
rs1568798388
|
|
NM_000214.3(JAG1):c.82-2A>G
|
rs1568807161
|
|
NM_000214.3(JAG1):c.841C>T (p.Gln281Ter)
|
rs886043603
|
|
NM_000214.3(JAG1):c.852_853del (p.Cys284_Glu285delinsTer)
|
rs1568798289
|
|
NM_000214.3(JAG1):c.929del (p.Gly310fs)
|
rs1555829039
|
|
NM_000214.3(JAG1):c.986C>A (p.Ser329Ter)
|
rs1568798024
|
|
NM_000218.3(KCNQ1):c.1637C>T (p.Ser546Leu)
|
rs199473480
|
|
NM_000222.3(KIT):c.2446G>C (p.Asp816His)
|
rs121913506
|
|
NM_000228.3(LAMB3):c.2768_2769del (p.Thr923fs)
|
rs1558148080
|
|
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro)
|
rs781760379
|
|
NM_000231.3(SGCG):c.195+4_195+7del
|
rs797045106
|
|
NM_000231.3(SGCG):c.230dup (p.Leu78fs)
|
rs1432706111
|
|
NM_000231.3(SGCG):c.385+2T>G
|
rs200206447
|
|
NM_000231.3(SGCG):c.386-2A>G
|
rs886042757
|
|
NM_000231.3(SGCG):c.452_458del (p.Leu150_Phe151insTer)
|
rs886042540
|
|
NM_000231.3(SGCG):c.525del (p.Phe175fs)
|
rs786204786
|
|
NM_000231.3(SGCG):c.599del (p.Ser200fs)
|
rs886043860
|
|
NM_000231.3(SGCG):c.735dup (p.Lys246fs)
|
rs797044783
|
|
NM_000232.5(SGCB):c.28G>T (p.Glu10Ter)
|
rs1448040082
|
|
NM_000232.5(SGCB):c.29_33del (p.Glu10fs)
|
rs1057517064
|
|
NM_000232.5(SGCB):c.32dup (p.Gln12fs)
|
rs796065319
|
|
NM_000232.5(SGCB):c.572del (p.Leu191fs)
|
rs886042546
|
|
NM_000235.4(LIPA):c.397_398del (p.Val134fs)
|
rs1564755287
|
|
NM_000235.4(LIPA):c.459dup (p.Ala154fs)
|
rs1564754574
|
|
NM_000235.4(LIPA):c.817_820del (p.Asn273fs)
|
rs1564752665
|
|
NM_000235.4(LIPA):c.822+1G>C
|
rs1204744283
|
|
NM_000238.4(KCNH2):c.3103del (p.Arg1035fs)
|
rs794728468
|
|
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)
|
rs28940580
|
|
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del)
|
rs104895093
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
NM_000249.4(MLH1):c.1039-1G>A
|
rs267607819
|
|
NM_000249.4(MLH1):c.677+3A>G
|
rs267607780
|
|
NM_000251.3(MSH2):c.1009C>T (p.Gln337Ter)
|
rs63750778
|
|
NM_000251.3(MSH2):c.2005+1G>A
|
rs267607986
|
|
NM_000252.3(MTM1):c.1040T>G (p.Leu347Ter)
|
rs398123264
|
|
NM_000252.3(MTM1):c.1088_1089del (p.Lys363fs)
|
rs587783752
|
|
NM_000252.3(MTM1):c.1306_1310dup (p.Phe438fs)
|
rs398123267
|
|
NM_000252.3(MTM1):c.1357_1358del (p.Pro453fs)
|
rs398123268
|
|
NM_000252.3(MTM1):c.1415_1416del (p.Ser472fs)
|
rs797044503
|
|
NM_000252.3(MTM1):c.142_143del (p.Glu48fs)
|
rs398123270
|
|
NM_000252.3(MTM1):c.1644+1G>T
|
rs398123272
|
|
NM_000252.3(MTM1):c.1644+3_1644+6del
|
rs797044504
|
|
NM_000252.3(MTM1):c.19del (p.Ser7fs)
|
rs886044770
|
|
NM_000252.3(MTM1):c.444+1G>A
|
rs886044840
|
|
NM_000252.3(MTM1):c.595_599del (p.Pro199fs)
|
rs398123273
|
|
NM_000252.3(MTM1):c.70C>T (p.Arg24Ter)
|
rs398123275
|
|
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys)
|
rs132630305
|
|
NM_000254.3(MTR):c.2669_2670del (p.Val890fs)
|
rs794727395
|
|
NM_000254.3(MTR):c.3600del (p.Ile1201fs)
|
rs1346847201
|
|
NM_000255.4(MMUT):c.-39-1G>A
|
rs879253822
|
|
NM_000255.4(MMUT):c.1445-2A>G
|
rs398123276
|
|
NM_000255.4(MMUT):c.1599T>A (p.Cys533Ter)
|
rs886042128
|
|
NM_000255.4(MMUT):c.55dup (p.Val19fs)
|
rs879253823
|
|
NM_000256.3(MYBPC3):c.1641_1642del (p.Tyr548fs)
|
rs398123279
|
|
NM_000256.3(MYBPC3):c.2833_2834del (p.Arg945fs)
|
rs397515987
|
|
NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs)
|
rs727503172
|
|
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp)
|
rs121913632
|
|
NM_000257.4(MYH7):c.2513C>T (p.Pro838Leu)
|
rs397516153
|
|
NM_000260.4(MYO7A):c.4225del (p.Leu1409fs)
|
rs1398609491
|
|
NM_000263.4(NAGLU):c.503G>A (p.Trp168Ter)
|
rs398123281
|
|
NM_000263.4(NAGLU):c.648dup (p.Ser217fs)
|
rs760370189
|
|
NM_000263.4(NAGLU):c.944dup (p.Asn315fs)
|
rs797044751
|
|
NM_000264.5(PTCH1):c.2011dup (p.His671fs)
|
rs1554695110
|
|
NM_000264.5(PTCH1):c.343G>T (p.Gly115Ter)
|
rs794727242
|
|
NM_000266.4(NDP):c.109C>T (p.Arg37Ter)
|
rs398123283
|
|
NM_000266.4(NDP):c.155T>A (p.Leu52Ter)
|
rs886043097
|
|
NM_000266.4(NDP):c.220C>T (p.Arg74Cys)
|
rs727504031
|
|
NM_000266.4(NDP):c.325C>T (p.Arg109Ter)
|
rs886043023
|
|
NM_000266.4(NDP):c.384C>A (p.Cys128Ter)
|
rs104894873
|
|
NM_000271.5(NPC1):c.1065del (p.Phe356fs)
|
rs886043871
|
|
NM_000271.5(NPC1):c.1140_1141del (p.Trp381fs)
|
rs1567965488
|
|
NM_000271.5(NPC1):c.1142G>A (p.Trp381Ter)
|
rs794727897
|
|
NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln)
|
rs483352886
|
|
NM_000271.5(NPC1):c.1628del (p.Pro543fs)
|
rs1555635957
|
|
NM_000271.5(NPC1):c.1920del (p.His641fs)
|
rs886042270
|
|
NM_000271.5(NPC1):c.2604+1G>A
|
rs1555633454
|
|
NM_000271.5(NPC1):c.2872C>T (p.Arg958Ter)
|
rs759826138
|
|
NM_000271.5(NPC1):c.2973_2974delinsAT (p.Gly992Trp)
|
rs1555632971
|
|
NM_000271.5(NPC1):c.3229C>T (p.Arg1077Ter)
|
rs750095738
|
|
NM_000271.5(NPC1):c.3246-2A>G
|
rs886042268
|
|
NM_000271.5(NPC1):c.423_424insGA (p.Lys142fs)
|
rs1555641037
|
|
NM_000271.5(NPC1):c.67del (p.Gln23fs)
|
rs886043131
|
|
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs)
|
rs886044580
|
|
NM_000275.3(OCA2):c.2177_2181del (p.Val726fs)
|
rs771620099
|
|
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal)
|
rs797044784
|
|
NM_000275.3(OCA2):c.867del (p.Ser289fs)
|
rs794727898
|
|
NM_000276.4(OCRL):c.1000C>T (p.Arg334Ter)
|
rs1556346316
|
|
NM_000276.4(OCRL):c.1499G>A (p.Arg500Gln)
|
rs137853260
|
|
NM_000276.4(OCRL):c.1714-1G>A
|
rs794727182
|
|
NM_000276.4(OCRL):c.2299C>T (p.Gln767Ter)
|
rs794727333
|
|
NM_000276.4(OCRL):c.2428C>T (p.Arg810Ter)
|
rs1569463775
|
|
NM_000276.4(OCRL):c.2563del (p.Val855fs)
|
rs398123288
|
|
NM_000276.4(OCRL):c.2582-1G>A
|
rs398123289
|
|
NM_000276.4(OCRL):c.909_910del (p.Gly304fs)
|
rs398123290
|
|
NM_000277.3(PAH):c.1055del (p.Gly352fs)
|
rs62516094
|
|
NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter)
|
rs62516095
|
|
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del)
|
rs199475565
|
|
NM_000277.3(PAH):c.1197A>T (p.Val399=)
|
rs199475584
|
|
NM_000277.3(PAH):c.1199G>C (p.Arg400Thr)
|
rs199475658
|
|
NM_000277.3(PAH):c.1238G>C (p.Arg413Pro)
|
rs79931499
|
|
NM_000277.3(PAH):c.1357_*2del (p.Ter453ProextTer?)
|
rs794727086
|
|
NM_000277.3(PAH):c.165del (p.Phe55fs)
|
rs199475566
|
|
NM_000277.3(PAH):c.227A>G (p.Glu76Gly)
|
rs62507347
|
|
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del)
|
rs62508727
|
|
NM_000277.3(PAH):c.357del (p.Trp120fs)
|
rs794727619
|
|
NM_000277.3(PAH):c.440C>T (p.Pro147Leu)
|
rs199475694
|
|
NM_000277.3(PAH):c.442-1G>A
|
rs62514907
|
|
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer)
|
rs62642906
|
|
NM_000277.3(PAH):c.503del (p.Tyr168fs)
|
rs199475661
|
|
NM_000277.3(PAH):c.527G>T (p.Arg176Leu)
|
rs74486803
|
|
NM_000277.3(PAH):c.638T>C (p.Leu213Pro)
|
rs62516109
|
|
NM_000277.3(PAH):c.648C>G (p.Tyr216Ter)
|
rs62509013
|
|
NM_000277.3(PAH):c.733G>C (p.Val245Leu)
|
rs62508694
|
|
NM_000277.3(PAH):c.740G>T (p.Gly247Val)
|
rs199475579
|
|
NM_000277.3(PAH):c.754C>T (p.Arg252Trp)
|
rs5030847
|
|
NM_000277.3(PAH):c.805A>C (p.Ile269Leu)
|
rs62508692
|
|
NM_000277.3(PAH):c.955G>T (p.Glu319Ter)
|
rs398123294
|
|
NM_000277.3(PAH):c.970-1G>C
|
rs202183605
|
|
NM_000277.3(PAH):c.974A>G (p.Tyr325Cys)
|
rs62508578
|
|
NM_000280.4(PAX6):c.358delG
|
rs886042838
|
|
NM_000282.4(PCCA):c.1023dup (p.Lys342Ter)
|
rs398123297
|
|
NM_000282.4(PCCA):c.1561_1566delinsTATTGCCAATAACC (p.Glu521_Lys522delinsTyrCysGlnTer)
|
rs1555425572
|
|
NM_000282.4(PCCA):c.1899+4_1899+7del
|
rs794727334
|
|
NM_000283.4(PDE6B):c.2193+1G>A
|
rs727504075
|
|
NM_000284.4(PDHA1):c.483C>T (p.Tyr161=)
|
rs398123300
|
|
NM_000286.3(PEX12):c.268_271del (p.Lys90fs)
|
rs61752100
|
|
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs)
|
rs61752107
|
|
NM_000286.3(PEX12):c.86T>G (p.Leu29Ter)
|
rs1567731767
|
|
NM_000286.3(PEX12):c.888_889del (p.Leu297fs)
|
rs398123301
|
|
NM_000286.3(PEX12):c.894del (p.Lys299_Met300insTer)
|
rs398123302
|
|
NM_000287.4(PEX6):c.1202T>A (p.Leu401Ter)
|
rs886044436
|
|
NM_000287.4(PEX6):c.1338_1339del (p.Ala447fs)
|
rs398123303
|
|
NM_000287.4(PEX6):c.1947del (p.Ile650fs)
|
rs267608227
|
|
NM_000287.4(PEX6):c.2398_2417delinsT (p.Ile800fs)
|
rs62653602
|
|
NM_000287.4(PEX6):c.311del (p.Gly104fs)
|
rs61753209
|
|
NM_000287.4(PEX6):c.684dup (p.Arg229fs)
|
rs886043908
|
|
NM_000287.4(PEX6):c.689_690dup (p.Ser232fs)
|
rs398123305
|
|
NM_000288.4(PEX7):c.213del (p.Phe71fs)
|
rs1190462422
|
|
NM_000292.3(PHKA2):c.2746C>T (p.Arg916Trp)
|
rs1569297427
|
|
NM_000294.3(PHKG2):c.130C>T (p.Arg44Ter)
|
rs137853590
|
|
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del)
|
rs775982338
|
|
NM_000297.4(PKD2):c.1094+3_1094+6del
|
rs1553925470
|
|
NM_000297.4(PKD2):c.709+1G>A
|
rs398123308
|
|
NM_000301.5(PLG):c.185+1G>T
|
rs886042477
|
|
NM_000302.4(PLOD1):c.1470+2T>C
|
rs886043927
|
|
NM_000302.4(PLOD1):c.327del (p.Arg111fs)
|
rs886042976
|
|
NM_000302.4(PLOD1):c.402del (p.Asp135fs)
|
rs886043926
|
|
NM_000303.3(PMM2):c.385G>A (p.Val129Met)
|
rs104894525
|
|
NM_000303.3(PMM2):c.392del (p.Pro131fs)
|
rs1555449607
|
|
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys)
|
rs80338703
|
|
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile)
|
rs78290141
|
|
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)
|
rs80338708
|
|
NM_000303.3(PMM2):c.710C>T (p.Thr237Met)
|
rs80338708
|
|
NM_000303.3(PMM2):c.95_96delinsGC (p.Leu32Arg)
|
rs398123312
|
|
NM_000304.4(PMP22):c.117G>A (p.Trp39Ter)
|
rs797044846
|
|
NM_000304.4(PMP22):c.215C>T (p.Ser72Leu)
|
rs104894621
|
|
NM_000310.4(PPT1):c.810del (p.Gly270_Leu271insTer)
|
rs794727955
|
|
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)
|
rs121909231
|
|
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln)
|
rs121909229
|
|
NM_000314.8(PTEN):c.511C>T (p.Gln171Ter)
|
rs786204864
|
|
NM_000314.8(PTEN):c.551dup (p.Asn184fs)
|
rs1554900606
|
|
NM_000314.8(PTEN):c.634+2T>G
|
rs727504114
|
|
NM_000314.8(PTEN):c.635-2A>G
|
rs1564566706
|
|
NM_000314.8(PTEN):c.80-1_80del
|
rs1554893747
|
|
NM_000314.8(PTEN):c.827del (p.Asn276fs)
|
rs886044679
|
|
NM_000314.8(PTEN):c.956_959del (p.Thr319fs)
|
rs398123330
|
|
NM_000318.3(PEX2):c.310dup (p.Ile104fs)
|
rs1235008965
|
|
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer)
|
rs764771123
|
|
NM_000321.2(RB1):c.1402_1412dup (p.Gln471Hisfs)
|
rs797044649
|
|
NM_000321.3(RB1):c.1072C>T (p.Arg358Ter)
|
rs121913301
|
|
NM_000321.3(RB1):c.1191del (p.Glu398fs)
|
rs727504121
|
|
NM_000321.3(RB1):c.1399C>T (p.Arg467Ter)
|
rs398123331
|
|
NM_000321.3(RB1):c.1510C>T (p.Gln504Ter)
|
rs886043247
|
|
NM_000321.3(RB1):c.1585dup (p.Tyr529fs)
|
rs398123332
|
|
NM_000321.3(RB1):c.1696-1G>A
|
rs794727199
|
|
NM_000321.3(RB1):c.2067_2079delinsCAC (p.Gln689fs)
|
rs398123333
|
|
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter)
|
rs137853293
|
|
NM_000321.3(RB1):c.2370C>A (p.Tyr790Ter)
|
rs794727372
|
|
NM_000321.3(RB1):c.2488_2489+7del
|
rs1555294634
|
|
NM_000321.3(RB1):c.2489+1G>C
|
rs764754259
|
|
NM_000321.3(RB1):c.2548C>T (p.Gln850Ter)
|
rs886042935
|
|
NM_000321.3(RB1):c.297G>A (p.Trp99Ter)
|
rs794727481
|
|
NM_000321.3(RB1):c.376del (p.Ile126fs)
|
rs886042357
|
|
NM_000321.3(RB1):c.396del (p.Phe132fs)
|
rs886043313
|
|
NM_000321.3(RB1):c.54_79del (p.Glu19fs)
|
rs727504120
|
|
NM_000321.3(RB1):c.763C>T (p.Arg255Ter)
|
rs587778842
|
|
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)
|
rs61755781
|
|
NM_000326.5(RLBP1):c.504_508del (p.Ser168fs)
|
rs1379405913
|
|
NM_000329.3(RPE65):c.1067dup (p.Asn356fs)
|
rs281865520
|
|
NM_000329.3(RPE65):c.149_150del (p.Leu49_Phe50insTer)
|
rs886042807
|
|
NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys)
|
rs121908544
|
|
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter)
|
rs137854613
|
|
NM_000337.6(SGCD):c.443T>A (p.Leu148Ter)
|
rs886043460
|
|
NM_000337.6(SGCD):c.65dup (p.Tyr23fs)
|
rs886043031
|
|
NM_000341.4(SLC3A1):c.163del (p.Gln55fs)
|
rs779932118
|
|
NM_000346.4(SOX9):c.1249C>T (p.Gln417Ter)
|
rs886043831
|
|
NM_000346.4(SOX9):c.781G>T (p.Glu261Ter)
|
rs1555629290
|
|
NM_000350.3(ABCA4):c.3139del (p.Glu1047fs)
|
rs886042904
|
|
NM_000350.3(ABCA4):c.4429C>T (p.Gln1477Ter)
|
rs794727531
|
|
NM_000350.3(ABCA4):c.4540-2A>G
|
rs61752435
|
|
NM_000350.3(ABCA4):c.4947del (p.Glu1650fs)
|
rs61750159
|
|
NM_000350.3(ABCA4):c.5161_5162del (p.Thr1721fs)
|
rs61750566
|
|
NM_000350.3(ABCA4):c.5289del (p.Val1764fs)
|
rs1553188071
|
|
NM_000350.3(ABCA4):c.5899-2del
|
rs1553187162
|
|
NM_000350.3(ABCA4):c.6166A>T (p.Lys2056Ter)
|
rs61750644
|
|
NM_000350.3(ABCA4):c.6184_6187del (p.Val2062fs)
|
rs886042319
|
|
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp)
|
rs61750645
|
|
NM_000350.3(ABCA4):c.666_678del (p.Lys223fs)
|
rs63749055
|
|
NM_000350.3(ABCA4):c.67-2A>G
|
rs398123339
|
|
NM_000350.3(ABCA4):c.6729+5_6729+19del
|
rs749526785
|
|
NM_000350.3(ABCA4):c.850_857del (p.Ile284fs)
|
rs886042320
|
|
NM_000350.3(ABCA4):c.880C>T (p.Gln294Ter)
|
rs794727903
|
|
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)
|
rs151344624
|
|
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs)
|
rs778381859
|
|
NM_000368.5(TSC1):c.2215C>T (p.Gln739Ter)
|
rs1554815054
|
|
NM_000368.5(TSC1):c.2515_2518del (p.Glu839fs)
|
rs794727320
|
|
NM_000368.5(TSC1):c.664-1G>A
|
rs118203423
|
|
NM_000368.5(TSC1):c.901_902del (p.Gln301fs)
|
rs118203464
|
|
NM_000372.5(TYR):c.338_339del (p.Thr113fs)
|
rs61753254
|
|
NM_000372.5(TYR):c.732_733del (p.Cys244_Asp245delinsTer)
|
rs61754368
|
|
NM_000381.4(MID1):c.1302_1305dup (p.Ser436Ter)
|
rs786200982
|
|
NM_000381.4(MID1):c.1444_1447dup (p.Ser483fs)
|
rs797044786
|
|
NM_000381.4(MID1):c.1656-8_1657del
|
rs1556002004
|
|
NM_000381.4(MID1):c.1798dup (p.His600fs)
|
rs398123342
|
|
NM_000381.4(MID1):c.783del (p.Lys261fs)
|
rs398123343
|
|
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys)
|
rs179363882
|
|
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter)
|
rs121434256
|
|
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)
|
rs386833675
|
|
NM_000387.6(SLC25A20):c.713A>G (p.Gln238Arg)
|
rs28934589
|
|
NM_000388.4(CASR):c.323del (p.Leu108fs)
|
rs1559956616
|
|
NM_000390.4(CHM):c.649_652del (p.Tyr217fs)
|
rs886043716
|
|
NM_000390.4(CHM):c.715C>T (p.Arg239Ter)
|
rs776256380
|
|
NM_000390.4(CHM):c.877C>T (p.Arg293Ter)
|
rs132630266
|
|
NM_000392.4(ABCC2):c.2322dup (p.Thr775Tyrfs)
|
rs1554851699
|
|
NM_000392.5(ABCC2):c.1014_1017del (p.Ser339fs)
|
rs1564674618
|
|
NM_000392.5(ABCC2):c.1325G>A (p.Trp442Ter)
|
rs776087856
|
|
NM_000392.5(ABCC2):c.156T>A (p.Tyr52Ter)
|
rs1554845888
|
|
NM_000392.5(ABCC2):c.1651C>T (p.Gln551Ter)
|
rs1554849397
|
|
NM_000392.5(ABCC2):c.1968-1G>C
|
rs756707816
|
|
NM_000392.5(ABCC2):c.207+1G>A
|
rs1161530285
|
|
NM_000392.5(ABCC2):c.2125T>C (p.Trp709Arg)
|
rs764958537
|
|
NM_000392.5(ABCC2):c.2325del (p.Tyr776fs)
|
rs1564688595
|
|
NM_000392.5(ABCC2):c.2855_2858del (p.Ile952fs)
|
rs1554853026
|
|
NM_000392.5(ABCC2):c.3216dup (p.Asp1073Ter)
|
rs771652807
|
|
NM_000392.5(ABCC2):c.3220_3226del (p.Thr1074fs)
|
rs777325157
|
|
NM_000392.5(ABCC2):c.3399_3400del (p.Tyr1134fs)
|
rs762914474
|
|
NM_000392.5(ABCC2):c.3422_3423del (p.Tyr1141fs)
|
rs774778158
|
|
NM_000392.5(ABCC2):c.3472_3473del (p.Pro1158fs)
|
rs762291612
|
|
NM_000392.5(ABCC2):c.3599G>A (p.Trp1200Ter)
|
rs577353173
|
|
NM_000392.5(ABCC2):c.3741+1G>A
|
rs34937870
|
|
NM_000392.5(ABCC2):c.3741+1G>T
|
rs34937870
|
|
NM_000392.5(ABCC2):c.4239_4240insTC (p.His1414fs)
|
rs1554854612
|
|
NM_000392.5(ABCC2):c.4246A>T (p.Lys1416Ter)
|
rs1564702358
|
|
NM_000392.5(ABCC2):c.476del (p.Asn159fs)
|
rs769798659
|
|
NM_000398.7(CYB5R3):c.250C>T (p.Arg84Ter)
|
rs1210302322
|
|
NM_000400.4(ERCC2):c.2046+1G>T
|
rs774768228
|
|
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu)
|
rs137852320
|
|
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro)
|
rs137852337
|
|
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg)
|
rs137852317
|
|
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro)
|
rs72554665
|
|
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)
|
rs137852314
|
|
NM_000402.4(G6PD):c.727G>T (p.Val243Leu)
|
rs137852326
|
|
NM_000404.4(GLB1):c.1077del (p.Val360fs)
|
rs727503952
|
|
NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs)
|
rs398123348
|
|
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs)
|
rs398123349
|
|
NM_000404.4(GLB1):c.169del (p.Tyr57fs)
|
rs794727249
|
|
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter)
|
rs398123350
|
|
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser)
|
rs192732174
|
|
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys)
|
rs192732174
|
|
NM_000404.4(GLB1):c.457+2T>C
|
rs398123354
|
|
NM_000404.4(GLB1):c.51dup (p.Leu18fs)
|
rs398123356
|
|
NM_000414.4(HSD17B4):c.1696_1702delinsAA (p.Pro566fs)
|
rs886043708
|
|
NM_000417.3(IL2RA):c.368-2A>G
|
rs1554829311
|
|
NM_000426.4(LAMA2):c.1032_1042del (p.Cys344fs)
|
rs886044344
|
|
NM_000426.4(LAMA2):c.1610_1611del (p.Ile537fs)
|
rs886043374
|
|
NM_000426.4(LAMA2):c.184G>T (p.Gly62Ter)
|
rs398123368
|
|
NM_000426.4(LAMA2):c.1855_1856insATGTTCAC (p.Arg619fs)
|
rs797044643
|
|
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)
|
rs202247790
|
|
NM_000426.4(LAMA2):c.2352T>G (p.Tyr784Ter)
|
rs886044330
|
|
NM_000426.4(LAMA2):c.2750-1G>C
|
rs9492297
|
|
NM_000426.4(LAMA2):c.2962C>T (p.Gln988Ter)
|
rs398123371
|
|
NM_000426.4(LAMA2):c.3237C>A (p.Cys1079Ter)
|
rs1554268940
|
|
NM_000426.4(LAMA2):c.3623_3645del (p.Lys1208fs)
|
rs727503992
|
|
NM_000426.4(LAMA2):c.3630del (p.Ile1210fs)
|
rs398123372
|
|
NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter)
|
rs121913569
|
|
NM_000426.4(LAMA2):c.3924+2T>C
|
rs1554269966
|
|
NM_000426.4(LAMA2):c.3979_3985dup (p.Phe1329Ter)
|
rs886042847
|
|
NM_000426.4(LAMA2):c.444dup (p.Pro149fs)
|
rs759516529
|
|
NM_000426.4(LAMA2):c.5050G>T (p.Glu1684Ter)
|
rs201632009
|
|
NM_000426.4(LAMA2):c.524_534dup (p.Leu179delinsSerAlaTer)
|
rs797044728
|
|
NM_000426.4(LAMA2):c.5605G>T (p.Glu1869Ter)
|
rs746762473
|
|
NM_000426.4(LAMA2):c.6011del (p.Asn2004fs)
|
rs398123379
|
|
NM_000426.4(LAMA2):c.6038del (p.Leu2012_Leu2013insTer)
|
rs398123380
|
|
NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter)
|
rs121913576
|
|
NM_000426.4(LAMA2):c.7155+1G>A
|
rs886043692
|
|
NM_000426.4(LAMA2):c.7279_7280del (p.Leu2427fs)
|
rs398123385
|
|
NM_000426.4(LAMA2):c.7439+1G>A
|
rs886043630
|
|
NM_000426.4(LAMA2):c.7536del (p.Asp2513fs)
|
rs398123387
|
|
NM_000426.4(LAMA2):c.7810C>T (p.Arg2604Ter)
|
rs766920075
|
|
NM_000426.4(LAMA2):c.7991del (p.Gly2664fs)
|
rs886039541
|
|
NM_000426.4(LAMA2):c.8155G>T (p.Glu2719Ter)
|
rs1289855948
|
|
NM_000426.4(LAMA2):c.817A>T (p.Arg273Ter)
|
rs886043648
|
|
NM_000426.4(LAMA2):c.8669dup (p.Leu2890fs)
|
rs1554316216
|
|
NM_000426.4(LAMA2):c.9101_9104dup (p.His3035fs)
|
rs398123390
|
|
NM_000426.4(LAMA2):c.9212-1G>A
|
rs398123391
|
|
NM_000430.4(PAFAH1B1):c.569-10T>C
|
rs113994202
|
|
NM_000430.4(PAFAH1B1):c.907_910del (p.Lys303fs)
|
rs587784292
|
|
NM_000433.4(NCF2):c.565C>T (p.Gln189Ter)
|
rs755796920
|
|
NM_000440.3(PDE6A):c.1926+1G>A
|
rs794727139
|
|
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs)
|
rs754012367
|
|
NM_000441.2(SLC26A4):c.1001+1G>T
|
rs80338849
|
|
NM_000441.2(SLC26A4):c.1222del (p.Ser408fs)
|
rs886043058
|
|
NM_000441.2(SLC26A4):c.382_384delinsAA (p.Phe128fs)
|
rs886044696
|
|
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)
|
rs111033256
|
|
NM_000443.4(ABCB4):c.1006-2A>C
|
rs1348606984
|
|
NM_000443.4(ABCB4):c.100dup (p.Thr34fs)
|
rs1554417376
|
|
NM_000443.4(ABCB4):c.1015del (p.Ser339fs)
|
rs753104429
|
|
NM_000443.4(ABCB4):c.1501G>T (p.Glu501Ter)
|
rs1562976167
|
|
NM_000443.4(ABCB4):c.1553del (p.Leu518fs)
|
rs1562976061
|
|
NM_000443.4(ABCB4):c.1635_1648delinsCCATTCAGG (p.Ala546fs)
|
rs1562975541
|
|
NM_000443.4(ABCB4):c.1943del (p.Lys648fs)
|
rs1562965250
|
|
NM_000443.4(ABCB4):c.2002C>T (p.Gln668Ter)
|
rs1562965098
|
|
NM_000443.4(ABCB4):c.2082_2088del (p.Val695fs)
|
rs1562963055
|
|
NM_000443.4(ABCB4):c.2316+1G>A
|
rs1562961442
|
|
NM_000443.4(ABCB4):c.2446del (p.Arg816fs)
|
rs1554401344
|
|
NM_000443.4(ABCB4):c.2473C>T (p.Gln825Ter)
|
rs1554401324
|
|
NM_000443.4(ABCB4):c.2625_2626delinsAT (p.Met875_Lys876delinsIleTer)
|
rs886043734
|
|
NM_000443.4(ABCB4):c.2626A>T (p.Lys876Ter)
|
rs886043725
|
|
NM_000443.4(ABCB4):c.3081+1G>C
|
rs750829010
|
|
NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter)
|
rs759202962
|
|
NM_000443.4(ABCB4):c.3280-1G>C
|
rs1562949296
|
|
NM_000443.4(ABCB4):c.345-2A>G
|
rs1562989885
|
|
NM_000443.4(ABCB4):c.3608C>G (p.Ser1203Ter)
|
rs748842753
|
|
NM_000443.4(ABCB4):c.3633+1G>T
|
rs1245472904
|
|
NM_000443.4(ABCB4):c.609dup (p.Ala204fs)
|
rs1562988165
|
|
NM_000443.4(ABCB4):c.834-2A>G
|
rs1562983531
|
|
NM_000443.4(ABCB4):c.879del (p.Ala294fs)
|
rs1326932143
|
|
NM_000443.4(ABCB4):c.927T>G (p.Tyr309Ter)
|
rs199504845
|
|
NM_000443.4(ABCB4):c.932C>A (p.Ser311Ter)
|
rs1562983272
|
|
NM_000443.4(ABCB4):c.94A>T (p.Lys32Ter)
|
rs1563009379
|
|
NM_000444.6(PHEX):c.67del (p.Leu23fs)
|
rs886043584
|
|
NM_000451.4(SHOX):c.517C>T (p.Arg173Cys)
|
rs137852556
|
|
NM_000455.5(STK11):c.169dup (p.Glu57fs)
|
rs121913319
|
|
NM_000455.5(STK11):c.580G>A (p.Asp194Asn)
|
rs121913315
|
|
NM_000455.5(STK11):c.877G>T (p.Glu293Ter)
|
rs398123405
|
|
NM_000455.5(STK11):c.921-1G>T
|
rs398123406
|
|
NM_000455.5(STK11):c.921-2A>T
|
rs727504172
|
|
NM_000455.5(STK11):c.988dup (p.Asp330fs)
|
rs786200991
|
|
NM_000458.4(HNF1B):c.541C>T (p.Arg181Ter)
|
|
|
NM_000463.3(UGT1A1):c.1084+1G>T
|
rs587784535
|
|
NM_000463.3(UGT1A1):c.222C>A (p.Tyr74Ter)
|
rs72551340
|
|
NM_000463.3(UGT1A1):c.722_723del (p.Glu241fs)
|
rs797046091
|
|
NM_000463.3(UGT1A1):c.877_890delinsA (p.Tyr293fs)
|
rs587776761
|
|
NM_000466.3(PEX1):c.1131del (p.Asp378fs)
|
rs886043479
|
|
NM_000466.3(PEX1):c.1803+1G>T
|
rs1562857871
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_000466.3(PEX1):c.2396dup (p.Ser800fs)
|
rs778871894
|
|
NM_000466.3(PEX1):c.2468del (p.Pro823fs)
|
rs766947924
|
|
NM_000466.3(PEX1):c.2916del (p.Gly973fs)
|
rs61750426
|
|
NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs)
|
rs886043558
|
|
NM_000466.3(PEX1):c.3505_3517del (p.Gln1169fs)
|
rs727504076
|
|
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr)
|
rs121918013
|
|
NM_000478.6(ALPL):c.746G>T (p.Gly249Val)
|
rs121918018
|
|
NM_000481.4(AMT):c.14dup (p.Ser6fs)
|
rs773988915
|
|
NM_000487.6(ARSA):c.1108-2A>G
|
rs398123411
|
|
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp)
|
rs74315476
|
|
NM_000487.6(ARSA):c.1125_1126del (p.Phe376fs)
|
rs398123412
|
|
NM_000487.6(ARSA):c.1408_1418del (p.Ala470fs)
|
rs80338823
|
|
NM_000487.6(ARSA):c.302del (p.Gly101fs)
|
rs761606317
|
|
NM_000487.6(ARSA):c.34del (p.Ala12fs)
|
rs398123415
|
|
NM_000487.6(ARSA):c.583del (p.Trp195fs)
|
rs398123416
|
|
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg)
|
rs74315471
|
|
NM_000487.6(ARSA):c.899T>C (p.Leu300Ser)
|
rs199476389
|
|
NM_000487.6(ARSA):c.986C>T (p.Thr329Ile)
|
rs398123418
|
|
NM_000487.6(ARSA):c.991G>T (p.Glu331Ter)
|
rs398123419
|
|
NM_000489.6(ATRX):c.134-2A>G
|
rs398123420
|
|
NM_000489.6(ATRX):c.1753G>T (p.Glu585Ter)
|
rs886044898
|
|
NM_000489.6(ATRX):c.189+1G>A
|
rs398123422
|
|
NM_000489.6(ATRX):c.463_474delinsT (p.Thr154_Glu155insTer)
|
rs398123424
|
|
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser)
|
rs398123425
|
|
NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter)
|
rs122445099
|
|
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys)
|
rs122445105
|
|
NM_000489.6(ATRX):c.7394del (p.Gly2465fs)
|
rs398123428
|
|
NM_000492.3(CFTR):c.1210-12T[5]
|
rs1805177
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs)
|
rs746418935
|
|
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys)
|
rs397508139
|
|
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro)
|
rs397508144
|
|
NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs)
|
rs387906360
|
|
NM_000492.4(CFTR):c.1083del (p.Trp361fs)
|
rs387906375
|
|
NM_000492.4(CFTR):c.1234_1238del (p.Ala412fs)
|
rs3034796
|
|
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs)
|
rs397508189
|
|
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del)
|
rs121908745
|
|
NM_000492.4(CFTR):c.165-1G>A
|
rs397508249
|
|
NM_000492.4(CFTR):c.1679+1G>A
|
rs397508263
|
|
NM_000492.4(CFTR):c.1766+2T>A
|
rs1554389062
|
|
NM_000492.4(CFTR):c.19G>T (p.Glu7Ter)
|
rs121909045
|
|
NM_000492.4(CFTR):c.2051_2052delinsG (p.Lys684fs)
|
rs121908799
|
|
NM_000492.4(CFTR):c.2052dup (p.Gln685fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.233dup (p.Trp79fs)
|
rs397508360
|
|
NM_000492.4(CFTR):c.2619+1G>A
|
rs1554389836
|
|
NM_000492.4(CFTR):c.2658-2A>G
|
rs1554390958
|
|
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del)
|
rs121908767
|
|
NM_000492.4(CFTR):c.3194T>C (p.Leu1065Pro)
|
rs121909036
|
|
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)
|
rs77834169
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_000492.4(CFTR):c.3528del (p.Lys1177fs)
|
rs78984783
|
|
NM_000492.4(CFTR):c.3999del (p.Lys1334fs)
|
rs886042527
|
|
NM_000492.4(CFTR):c.4058del (p.Gln1352_Leu1353insTer)
|
rs1562928927
|
|
NM_000492.4(CFTR):c.4251del (p.Glu1418fs)
|
rs397508706
|
|
NM_000492.4(CFTR):c.442del (p.Ile148fs)
|
rs121908770
|
|
NM_000492.4(CFTR):c.49_50dup (p.Trp19fs)
|
rs397508714
|
|
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter)
|
rs397508759
|
|
NM_000492.4(CFTR):c.743+1G>A
|
rs397508791
|
|
NM_000492.4(CFTR):c.803del (p.Asn268fs)
|
rs121908772
|
|
NM_000492.4(CFTR):c.848_860delinsTG (p.Lys283fs)
|
rs796065332
|
|
NM_000492.4(CFTR):c.850dup (p.Met284fs)
|
rs786204693
|
|
NM_000492.4(CFTR):c.869+1G>C
|
rs1330431481
|
|
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del)
|
rs121908768
|
|
NM_000492.4(CFTR):c.948del (p.Phe316fs)
|
rs75528968
|
|
NM_000494.4(COL17A1):c.2407G>T (p.Gly803Ter)
|
rs752317971
|
|
NM_000500.9(CYP21A2):c.293-13C>G
|
rs6467
|
|
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)
|
rs6471
|
|
NM_000501.4(ELN):c.914_930delinsGCT (p.Ala305fs)
|
rs886044834
|
|
NM_000503.6(EYA1):c.602C>G (p.Ser201Ter)
|
rs1563423589
|
|
NM_000507.4(FBP1):c.611_614del (p.Lys204fs)
|
rs761470205
|
|
NM_000512.5(GALNS):c.405_422+1del
|
rs398123437
|
|
NM_000512.5(GALNS):c.421T>A (p.Trp141Arg)
|
rs794727625
|
|
NM_000512.5(GALNS):c.899-66_907delinsACTCAGTG
|
rs1597559669
|
|
NM_000516.7(GNAS):c.1174G>A (p.Glu392Lys)
|
rs397514456
|
|
NM_000516.7(GNAS):c.2T>C (p.Met1Thr)
|
rs1555883949
|
|
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)
|
rs33946267
|
|
NM_000518.5(HBB):c.92+1G>T
|
rs33971440
|
|
NM_000520.6(HEXA):c.1A>T (p.Met1Leu)
|
rs121907965
|
|
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs)
|
rs776476415
|
|
NM_000521.4(HEXB):c.115del (p.Val39fs)
|
rs398123443
|
|
NM_000521.4(HEXB):c.1239_1243del (p.Lys414fs)
|
rs398123445
|
|
NM_000521.4(HEXB):c.1517_1529dup (p.Glu511fs)
|
rs797044644
|
|
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs)
|
rs794727091
|
|
NM_000525.4(KCNJ11):c.175G>A (p.Val59Met)
|
rs80356616
|
|
NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter)
|
rs775200333
|
|
NM_000528.4(MAN2B1):c.1929G>A (p.Trp643Ter)
|
rs398123455
|
|
NM_000528.4(MAN2B1):c.2398G>A (p.Gly800Arg)
|
rs398123456
|
|
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs)
|
rs797044680
|
|
NM_000528.4(MAN2B1):c.384G>A (p.Trp128Ter)
|
rs1555709972
|
|
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu)
|
rs121913601
|
|
NM_000531.6(OTC):c.119G>A (p.Arg40His)
|
rs72554308
|
|
NM_000531.6(OTC):c.205C>T (p.Gln69Ter)
|
rs72554326
|
|
NM_000531.6(OTC):c.238A>G (p.Lys80Glu)
|
rs72554332
|
|
NM_000531.6(OTC):c.391_397dup (p.Ser133delinsIleValTer)
|
rs1602029533
|
|
NM_000531.6(OTC):c.422G>A (p.Arg141Gln)
|
rs68026851
|
|
NM_000531.6(OTC):c.540+2T>C
|
rs67367843
|
|
NM_000531.6(OTC):c.663+2T>C
|
rs72558427
|
|
NM_000531.6(OTC):c.674C>T (p.Pro225Leu)
|
rs67120076
|
|
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)
|
rs397507445
|
|
NM_000532.5(PCCB):c.183+1G>A
|
rs398123460
|
|
NM_000532.5(PCCB):c.184-1G>A
|
rs886044246
|
|
NM_000532.5(PCCB):c.2T>A (p.Met1Lys)
|
rs398123462
|
|
NM_000532.5(PCCB):c.386_387delinsAAC (p.Phe129Ter)
|
rs398123463
|
|
NM_000532.5(PCCB):c.419_430dup (p.Lys140_Lys143dup)
|
rs797044729
|
|
NM_000532.5(PCCB):c.990dup (p.Glu331Ter)
|
rs786200983
|
|
NM_000533.5(PLP1):c.453G>A (p.Lys151=)
|
rs886044450
|
|
NM_000533.5(PLP1):c.646C>T (p.Pro216Ser)
|
rs132630278
|
|
NM_000533.5(PLP1):c.737G>C (p.Gly246Ala)
|
rs398123467
|
|
NM_000536.4(RAG2):c.955G>T (p.Gly319Ter)
|
rs879541124
|
|
NM_000539.3(RHO):c.541G>A (p.Glu181Lys)
|
rs775557680
|
|
NM_000540.3(RYR1):c.12315_12328del (p.Glu4106fs)
|
rs886042171
|
|
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter)
|
rs772494345
|
|
NM_000540.3(RYR1):c.12612G>A (p.Trp4204Ter)
|
rs794727982
|
|
NM_000540.3(RYR1):c.12625-1G>T
|
rs794727984
|
|
NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu)
|
rs193922772
|
|
NM_000540.3(RYR1):c.2505del (p.Pro836fs)
|
rs797045932
|
|
NM_000540.3(RYR1):c.3982_3986del (p.Pro1327_Asp1328insTer)
|
rs1555775774
|
|
NM_000540.3(RYR1):c.4076del (p.Gly1359fs)
|
rs794727460
|
|
NM_000540.3(RYR1):c.7463_7475del (p.Pro2488fs)
|
rs794727683
|
|
NM_000540.3(RYR1):c.8929_8932+4delinsAAGCGG
|
rs1555786205
|
|
NM_000543.5(SMPD1):c.1092-1G>C
|
rs398123474
|
|
NM_000543.5(SMPD1):c.1117C>T (p.Pro373Ser)
|
rs1342372980
|
|
NM_000543.5(SMPD1):c.114del (p.Leu39fs)
|
rs886043098
|
|
NM_000543.5(SMPD1):c.1152G>A (p.Met384Ile)
|
rs120074121
|
|
NM_000543.5(SMPD1):c.1420_1421del (p.Leu474fs)
|
rs398123476
|
|
NM_000543.5(SMPD1):c.1533del (p.His511fs)
|
rs1564927308
|
|
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)
|
rs398123478
|
|
NM_000543.5(SMPD1):c.1630del (p.Thr544fs)
|
rs770962157
|
|
NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del)
|
rs120074118
|
|
NM_000543.5(SMPD1):c.354del (p.Ile119fs)
|
rs727504165
|
|
NM_000543.5(SMPD1):c.558_559insT (p.Pro187fs)
|
rs1554934241
|
|
NM_000543.5(SMPD1):c.564del (p.Lys189fs)
|
rs756366019
|
|
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs)
|
rs794727252
|
|
NM_000543.5(SMPD1):c.842_849dup (p.His284fs)
|
rs281860677
|
|
NM_000543.5(SMPD1):c.996del (p.Phe333fs)
|
rs387906289
|
|
NM_000545.8(HNF1A):c.1A>T (p.Met1Leu)
|
rs193922592
|
|
NM_000545.8(HNF1A):c.864del (p.Pro291fs)
|
rs762703502
|
|
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)
|
rs730882029
|
|
NM_000546.6(TP53):c.314del (p.Gly105fs)
|
rs1567555907
|
|
NM_000546.6(TP53):c.451C>T (p.Pro151Ser)
|
rs28934874
|
|
NM_000546.6(TP53):c.892G>T (p.Glu298Ter)
|
rs201744589
|
|
NM_000548.5(TSC2):c.2546-2A>G
|
rs45517246
|
|
NM_000548.5(TSC2):c.3206_3207del (p.Val1069fs)
|
rs137854076
|
|
NM_000548.5(TSC2):c.3284+1G>A
|
rs45517289
|
|
NM_000548.5(TSC2):c.4415del (p.Gly1472fs)
|
rs794727573
|
|
NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs)
|
rs137854175
|
|
NM_000548.5(TSC2):c.649-1G>C
|
rs794727906
|
|
NM_000548.5(TSC2):c.826_827del (p.Met276fs)
|
rs137853977
|
|
NM_000550.3(TYRP1):c.1103del (p.Lys368fs)
|
rs387906560
|
|
NM_000551.4(VHL):c.233A>G (p.Asn78Ser)
|
rs5030804
|
|
NM_000551.4(VHL):c.245G>C (p.Arg82Pro)
|
rs794726890
|
|
NM_000551.4(VHL):c.256C>G (p.Pro86Ala)
|
rs398123481
|
|
NM_000551.4(VHL):c.351G>T (p.Trp117Cys)
|
rs727504215
|
|
NM_000551.4(VHL):c.394C>T (p.Gln132Ter)
|
rs5030813
|
|
NM_000551.4(VHL):c.449del (p.Asn150fs)
|
rs794727253
|
|
NM_000551.4(VHL):c.464-1G>A
|
rs5030817
|
|
NM_000551.4(VHL):c.481C>T (p.Arg161Ter)
|
rs5030818
|
|
NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs)
|
rs398123483
|
|
NM_000551.4(VHL):c.586A>T (p.Lys196Ter)
|
rs281860296
|
|
NM_000552.5(VWF):c.2435del (p.Pro812fs)
|
rs62643632
|
|
NM_000553.6(WRN):c.2900dup (p.Leu967fs)
|
rs1554530901
|
|
NM_000553.6(WRN):c.561A>G (p.Lys187=)
|
rs775802030
|
|
NM_000554.6(CRX):c.448del (p.Ser150fs)
|
rs886044121
|
|
NM_000642.3(AGL):c.1485del (p.Arg494_Tyr495insTer)
|
rs794727051
|
|
NM_000642.3(AGL):c.18_19del (p.Gln6fs)
|
rs113994127
|
|
NM_000642.3(AGL):c.2158-1G>A
|
rs886043990
|
|
NM_000642.3(AGL):c.289C>T (p.Gln97Ter)
|
rs1553183220
|
|
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs)
|
rs771069887
|
|
NM_000642.3(AGL):c.4456del (p.Ser1486fs)
|
rs113994134
|
|
NM_000642.3(AGL):c.535_538del (p.Leu179fs)
|
rs794727706
|
|
NM_000709.4(BCKDHA):c.117del (p.Arg40fs)
|
rs398123489
|
|
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs)
|
rs398123489
|
|
NM_000709.4(BCKDHA):c.1302C>A (p.Tyr434Ter)
|
rs398123491
|
|
NM_000709.4(BCKDHA):c.1310_1311del (p.His437fs)
|
rs398123492
|
|
NM_000709.4(BCKDHA):c.1314C>A (p.Tyr438Ter)
|
rs398123493
|
|
NM_000709.4(BCKDHA):c.14del (p.Ile5fs)
|
rs398123494
|
|
NM_000709.4(BCKDHA):c.741dup (p.Ala248fs)
|
rs398123504
|
|
NM_000709.4(BCKDHA):c.861_868del (p.Gly288fs)
|
rs794727847
|
|
NM_000709.4(BCKDHA):c.905A>C (p.Asp302Ala)
|
rs398123509
|
|
NM_000709.4(BCKDHA):c.909_910del (p.Phe304fs)
|
rs398123510
|
|
NM_000709.4(BCKDHA):c.917del (p.Val306fs)
|
rs398123512
|
|
NM_000709.4(BCKDHA):c.964C>T (p.Gln322Ter)
|
rs398123513
|
|
NM_000747.3(CHRNB1):c.865G>A (p.Val289Met)
|
rs137852810
|
|
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs)
|
rs886041342
|
|
NM_000784.4(CYP27A1):c.1381C>T (p.Gln461Ter)
|
rs771819245
|
|
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.256-1G>T
|
rs886556800
|
|
NM_000784.4(CYP27A1):c.256-2A>G
|
rs1559391390
|
|
NM_000784.4(CYP27A1):c.446+1G>T
|
rs587778797
|
|
NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs)
|
rs755532803
|
|
NM_000784.4(CYP27A1):c.776del (p.Lys259fs)
|
rs1343936087
|
|
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter)
|
rs72551318
|
|
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs)
|
rs397515356
|
|
NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs)
|
rs780950819
|
|
NM_000785.4(CYP27B1):c.171dup (p.Leu58fs)
|
rs763437121
|
|
NM_000823.4(GHRHR):c.1089_1093del (p.Leu364fs)
|
rs748432685
|
|
NM_000834.5(GRIN2B):c.1823T>A (p.Leu608Ter)
|
rs886043237
|
|
NM_000875.5(IGF1R):c.2032dup (p.Ile678fs)
|
rs1567197213
|
|
NM_000875.5(IGF1R):c.418dup (p.Ala140fs)
|
rs746570875
|
|
NM_000900.5(MGP):c.94+1G>A
|
rs111320759
|
|
NM_000939.4(POMC):c.225del (p.Lys76fs)
|
rs1558628852
|
|
NM_001001548.3(CD36):c.1155del (p.Lys385fs)
|
rs765809606
|
|
NM_001004334.4(GPR179):c.647dup (p.Ala217fs)
|
rs886043388
|
|
NM_001004334.4(GPR179):c.799_803delinsTGATCTAC (p.Gln267_Val268delinsTer)
|
rs886043488
|
|
NM_001005242.3(PKP2):c.368G>A (p.Trp123Ter)
|
rs760576804
|
|
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys)
|
rs121909092
|
|
NM_001008216.2(GALE):c.272del (p.Leu91fs)
|
rs794727702
|
|
NM_001008216.2(GALE):c.408C>A (p.Tyr136Ter)
|
rs727503943
|
|
NM_001008537.3(NEXMIF):c.1582del (p.Arg528fs)
|
rs727503977
|
|
NM_001008537.3(NEXMIF):c.640del (p.Ala214fs)
|
rs886042158
|
|
NM_001008537.3(NEXMIF):c.773G>A (p.Trp258Ter)
|
rs1569335877
|
|
NM_001010892.3(RSPH4A):c.921+3_921+6del
|
rs869320683
|
|
NM_001015877.2(PHF6):c.3G>T (p.Met1Ile)
|
rs398124428
|
|
NM_001015878.2(AURKC):c.145del (p.Leu49fs)
|
rs397515619
|
|
NM_001015880.2(PAPSS2):c.639+1G>T
|
rs794727710
|
|
NM_001017420.3(ESCO2):c.760del (p.Thr254fs)
|
rs80359852
|
|
NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn)
|
rs199476317
|
|
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs)
|
rs398123538
|
|
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter)
|
rs201405662
|
|
NM_001023570.4(IQCB1):c.264-2A>T
|
rs727503969
|
|
NM_001023570.4(IQCB1):c.817G>T (p.Glu273Ter)
|
rs794727964
|
|
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln)
|
rs104893991
|
|
NM_001029883.3(PCARE):c.1828C>T (p.Gln610Ter)
|
rs886044003
|
|
NM_001029883.3(PCARE):c.2227_2228del (p.Leu744fs)
|
rs886044002
|
|
NM_001029883.3(PCARE):c.2506G>T (p.Glu836Ter)
|
rs886044135
|
|
NM_001029883.3(PCARE):c.2920_2921insC (p.Glu974fs)
|
rs1553354488
|
|
NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter)
|
rs367658438
|
|
NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val)
|
rs137853113
|
|
NM_001032221.6(STXBP1):c.1029+1G>T
|
rs727504173
|
|
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His)
|
rs886041246
|
|
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter)
|
rs794727792
|
|
NM_001032221.6(STXBP1):c.400_401del (p.Asn134fs)
|
rs886044141
|
|
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln)
|
rs794727970
|
|
NM_001032221.6(STXBP1):c.794+1G>A
|
rs1554777496
|
|
NM_001032382.2(PQBP1):c.450_453del (p.Asp150fs)
|
rs886044823
|
|
NM_001033560.1(DNAAF4):c.523dup (p.Ile175Asnfs)
|
rs751610886
|
|
NM_001034853.2(RPGR):c.1387C>T (p.Gln463Ter)
|
rs886044302
|
|
NM_001034853.2(RPGR):c.154G>A (p.Gly52Arg)
|
rs281865296
|
|
NM_001034853.2(RPGR):c.155-2A>G
|
rs62638632
|
|
NM_001034853.2(RPGR):c.486del (p.Phe162fs)
|
rs281865297
|
|
NM_001034853.2(RPGR):c.505G>T (p.Glu169Ter)
|
rs369037463
|
|
NM_001034853.2(RPGR):c.642_656delinsC (p.Gly215fs)
|
rs796065331
|
|
NM_001037.5(SCN1B):c.347del (p.Ser116fs)
|
rs794727487
|
|
NM_001039141.3(TRIOBP):c.251_254+22del
|
rs1555894574
|
|
NM_001039141.3(TRIOBP):c.3487_3533del (p.Pro1163fs)
|
rs1569042640
|
|
NM_001039348.3(EFEMP1):c.1033C>T (p.Arg345Trp)
|
rs121434491
|
|
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln)
|
rs794727152
|
|
NM_001042432.2(CLN3):c.17del (p.Gly6fs)
|
rs886043242
|
|
NM_001042432.2(CLN3):c.461-280_677+382del
|
rs1555468634
|
|
NM_001042702.5(PJVK):c.515_516del (p.Ser172fs)
|
rs1553601319
|
|
NM_001044385.3(TMEM237):c.73dup (p.Ser25fs)
|
rs1559590832
|
|
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)
|
rs587780078
|
|
NM_001061.7(TBXAS1):c.1420del (p.Ala474fs)
|
rs794727053
|
|
NM_001077365.2(POMT1):c.1657del (p.Leu553fs)
|
rs794727190
|
|
NM_001077365.2(POMT1):c.1704G>C (p.Gln568His)
|
rs119462986
|
|
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter)
|
rs138902646
|
|
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)
|
rs398124245
|
|
NM_001077365.2(POMT1):c.727C>T (p.Arg243Ter)
|
rs398124247
|
|
NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter)
|
rs765230689
|
|
NM_001079.4(ZAP70):c.1624-11G>A
|
rs730880318
|
|
NM_001079802.1(FKTN):c.*4375_*4376ins3062
|
|
|
NM_001079802.1(FKTN):c.657dup (p.Gln220Thrfs)
|
rs1554754678
|
|
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)
|
rs398123555
|
|
NM_001079802.2(FKTN):c.1317_1318dup (p.Pro440fs)
|
rs886042778
|
|
NM_001079802.2(FKTN):c.330dup (p.Thr111fs)
|
rs767865405
|
|
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)
|
rs537001725
|
|
NM_001079802.2(FKTN):c.456_457del (p.Ser154fs)
|
rs760731888
|
|
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)
|
rs398123557
|
|
NM_001080.3(ALDH5A1):c.1323dup (p.Pro442fs)
|
rs1561879345
|
|
NM_001080517.3(SETD5):c.2340dup (p.Lys781Ter)
|
rs1559439258
|
|
NM_001080517.3(SETD5):c.2757dup (p.Val920fs)
|
rs1553638715
|
|
NM_001080522.2(CC2D2A):c.1017dup (p.Glu340Argfs)
|
rs797044636
|
|
NM_001080522.2(CC2D2A):c.3289delG
|
rs386833751
|
|
NM_001081.4(CUBN):c.1308_1311del (p.Glu435_Cys436insTer)
|
rs1564516701
|
|
NM_001083961.2(WDR62):c.1677_1680dup (p.Ile561fs)
|
rs1599805729
|
|
NM_001083962.2(TCF4):c.1086G>A (p.Trp362Ter)
|
rs398123560
|
|
NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter)
|
rs121909122
|
|
NM_001083962.2(TCF4):c.1357dup (p.Thr453fs)
|
rs786200992
|
|
NM_001083962.2(TCF4):c.1414del (p.Val472fs)
|
rs727504174
|
|
NM_001083962.2(TCF4):c.1733G>A (p.Arg578His)
|
rs121909123
|
|
NM_001083962.2(TCF4):c.469del (p.Arg157fs)
|
rs1569138023
|
|
NM_001083962.2(TCF4):c.514_517del (p.Lys172fs)
|
rs398123561
|
|
NM_001083962.2(TCF4):c.655+1G>T
|
rs587784465
|
|
NM_001083962.2(TCF4):c.748C>T (p.Gln250Ter)
|
rs727504175
|
|
NM_001101426.4(CRPPA):c.1030dup (p.Thr344fs)
|
rs1554300194
|
|
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del)
|
rs587777798
|
|
NM_001101426.4(CRPPA):c.1120-1G>T
|
rs397515396
|
|
NM_001101426.4(CRPPA):c.1123_1126del (p.His375fs)
|
rs1554291235
|
|
NM_001101426.4(CRPPA):c.1186G>T (p.Glu396Ter)
|
rs886042554
|
|
NM_001101426.4(CRPPA):c.184del (p.Val62fs)
|
rs1048457038
|
|
NM_001101426.4(CRPPA):c.1A>T (p.Met1Leu)
|
rs886043573
|
|
NM_001101426.4(CRPPA):c.258-1G>C
|
rs767978961
|
|
NM_001101426.4(CRPPA):c.802C>T (p.Arg268Ter)
|
rs368593151
|
|
NM_001110219.3(GJB6):c.261dup (p.Ala88fs)
|
rs398124236
|
|
NM_001110219.3(GJB6):c.689dup (p.Asn230fs)
|
rs398124237
|
|
NM_001110556.2(FLNA):c.2318_2319dup (p.Val774fs)
|
rs1057515583
|
|
NM_001110556.2(FLNA):c.2339_2340insAA (p.Lys781fs)
|
rs1057515582
|
|
NM_001110556.2(FLNA):c.2405-2A>G
|
rs886044850
|
|
NM_001110556.2(FLNA):c.2761C>T (p.Arg921Ter)
|
rs398123614
|
|
NM_001110556.2(FLNA):c.3153dup (p.Val1052fs)
|
rs398123616
|
|
NM_001110556.2(FLNA):c.4269_4277delinsTGGC (p.Leu1424fs)
|
rs797044690
|
|
NM_001110556.2(FLNA):c.42del (p.Ala15fs)
|
rs398123619
|
|
NM_001110556.2(FLNA):c.4446_4447dup (p.Leu1483fs)
|
rs398123620
|
|
NM_001110556.2(FLNA):c.4543C>T (p.Arg1515Ter)
|
rs186214592
|
|
NM_001110556.2(FLNA):c.4777_4778dup (p.Thr1594fs)
|
rs786200973
|
|
NM_001110556.2(FLNA):c.5132_5133delinsAA (p.Phe1711Ter)
|
rs398123621
|
|
NM_001110556.2(FLNA):c.5278C>T (p.Gln1760Ter)
|
rs886044824
|
|
NM_001110556.2(FLNA):c.5854del (p.Val1952fs)
|
rs797044724
|
|
NM_001110556.2(FLNA):c.6245_6248dup (p.Ile2084fs)
|
rs1057515584
|
|
NM_001110556.2(FLNA):c.6327del (p.Glu2110fs)
|
rs1569551475
|
|
NM_001110556.2(FLNA):c.6724C>T (p.Arg2242Ter)
|
rs1060500717
|
|
NM_001110556.2(FLNA):c.7153C>T (p.Gln2385Ter)
|
rs727503931
|
|
NM_001110556.2(FLNA):c.7551_7552+6del
|
rs398123623
|
|
NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys)
|
rs28935470
|
|
NM_001110556.2(FLNA):c.7757-1G>C
|
rs797044496
|
|
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)
|
rs267608327
|
|
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)
|
rs61752992
|
|
NM_001110792.2(MECP2):c.1202dup (p.Pro402fs)
|
rs797044733
|
|
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)
|
rs28934907
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)
|
rs28934908
|
|
NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter)
|
rs61748396
|
|
NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu)
|
rs61748408
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)
|
rs61748421
|
|
NM_001110792.2(MECP2):c.647C>G (p.Ser216Ter)
|
rs61749724
|
|
NM_001110792.2(MECP2):c.766C>T (p.Gln256Ter)
|
rs61749747
|
|
NM_001110792.2(MECP2):c.789del (p.Gly264fs)
|
rs61749751
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.842del (p.Gly281fs)
|
rs61750241
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
NM_001111.5(ADAR):c.1675C>T (p.Gln559Ter)
|
rs1553212090
|
|
NM_001111.5(ADAR):c.2130dup (p.Asn711fs)
|
rs1553211449
|
|
NM_001114753.3(ENG):c.1687-1G>T
|
rs1554809106
|
|
NM_001114753.3(ENG):c.360+1G>A
|
rs886039505
|
|
NM_001114753.3(ENG):c.690-2A>T
|
rs1564455970
|
|
NM_001114753.3(ENG):c.880_881del (p.Asp294fs)
|
rs886042916
|
|
NM_001122630.2(CDKN1C):c.398del (p.Pro133fs)
|
rs1554938069
|
|
NM_001122630.2(CDKN1C):c.656del (p.Gln219fs)
|
rs1554937790
|
|
NM_001122681.2(SH3BP2):c.1253C>G (p.Pro418Arg)
|
rs121909146
|
|
NM_001122769.3(LCA5):c.1062C>G (p.Tyr354Ter)
|
rs183261547
|
|
NM_001123385.2(BCOR):c.3267_3270dup (p.Pro1091Ter)
|
rs1555915852
|
|
NM_001123385.2(BCOR):c.3468del (p.Leu1157fs)
|
rs398124313
|
|
NM_001123385.2(BCOR):c.3883_3884del (p.Leu1296fs)
|
rs886042842
|
|
NM_001123385.2(BCOR):c.4862dup (p.Gly1622fs)
|
rs797044647
|
|
NM_001123385.2(BCOR):c.776C>A (p.Ser259Ter)
|
rs727503826
|
|
NM_001127222.2(CACNA1A):c.3822+1G>A
|
rs794727355
|
|
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)
|
rs794727411
|
|
NM_001127464.2(ZNF469):c.7554del (p.Ser2519Alafs)
|
rs886039575
|
|
NM_001127649.3(PEX26):c.34dup (p.Leu12fs)
|
rs61752129
|
|
NM_001127671.2(LIFR):c.653dup (p.Glu219fs)
|
rs886042160
|
|
NM_001128178.3(NPHP1):c.1016dup (p.Leu340fs)
|
rs398123285
|
|
NM_001128178.3(NPHP1):c.1551del (p.Ile517fs)
|
rs1017750255
|
|
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs)
|
rs766524637
|
|
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])
|
rs587784440
|
|
NM_001130987.1(DYSF):c.3105dup(p.Ile1036Hisfs)
|
rs756118312
|
|
NM_001130987.2(DYSF):c.1033+2T>C
|
rs886042617
|
|
NM_001130987.2(DYSF):c.1093_1094del (p.Ala365fs)
|
rs1553525756
|
|
NM_001130987.2(DYSF):c.110_111del (p.Lys37fs)
|
rs398123764
|
|
NM_001130987.2(DYSF):c.1167del (p.Ser390fs)
|
rs886044355
|
|
NM_001130987.2(DYSF):c.1260del (p.Glu421fs)
|
rs1559079887
|
|
NM_001130987.2(DYSF):c.1267_1276+4dup
|
rs1573744795
|
|
NM_001130987.2(DYSF):c.1274_1276+4dup
|
rs768425085
|
|
NM_001130987.2(DYSF):c.1372G>A (p.Gly458Arg)
|
rs886042093
|
|
NM_001130987.2(DYSF):c.1450-3_1450-2del
|
rs886043328
|
|
NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter)
|
rs202044973
|
|
NM_001130987.2(DYSF):c.1488dup (p.Asp497fs)
|
rs398123767
|
|
NM_001130987.2(DYSF):c.1493G>A (p.Trp498Ter)
|
rs1559100639
|
|
NM_001130987.2(DYSF):c.1494-1G>A
|
rs398123768
|
|
NM_001130987.2(DYSF):c.1494-2A>G
|
rs398123769
|
|
NM_001130987.2(DYSF):c.1576+1G>A
|
rs886044258
|
|
NM_001130987.2(DYSF):c.1576G>T (p.Val526Leu)
|
rs886044537
|
|
NM_001130987.2(DYSF):c.1577-1655C>G
|
rs886044410
|
|
NM_001130987.2(DYSF):c.1577-1G>A
|
rs189923208
|
|
NM_001130987.2(DYSF):c.1589_1592dup (p.Phe532fs)
|
rs1573928936
|
|
NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter)
|
rs886042641
|
|
NM_001130987.2(DYSF):c.167dup (p.Ile58fs)
|
rs863225020
|
|
NM_001130987.2(DYSF):c.1762C>T (p.Gln588Ter)
|
rs886042633
|
|
NM_001130987.2(DYSF):c.1867C>T (p.Gln623Ter)
|
rs121908953
|
|
NM_001130987.2(DYSF):c.1906G>C (p.Gly636Arg)
|
rs201049092
|
|
NM_001130987.2(DYSF):c.1985-2del
|
rs774047700
|
|
NM_001130987.2(DYSF):c.2088del (p.Ile699fs)
|
rs886044390
|
|
NM_001130987.2(DYSF):c.2217-1G>T
|
rs886044379
|
|
NM_001130987.2(DYSF):c.2302C>T (p.Gln768Ter)
|
rs1027145211
|
|
NM_001130987.2(DYSF):c.2344G>T (p.Glu782Ter)
|
rs886043901
|
|
NM_001130987.2(DYSF):c.2365C>T (p.Gln789Ter)
|
rs398123773
|
|
NM_001130987.2(DYSF):c.2378G>A (p.Trp793Ter)
|
rs1559162681
|
|
NM_001130987.2(DYSF):c.2406_2409+1del
|
rs398123774
|
|
NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg)
|
rs121908956
|
|
NM_001130987.2(DYSF):c.2426dup (p.Asp810fs)
|
rs752479889
|
|
NM_001130987.2(DYSF):c.2550_2553del (p.Thr851fs)
|
rs755849745
|
|
NM_001130987.2(DYSF):c.268C>T (p.Arg90Ter)
|
rs794727636
|
|
NM_001130987.2(DYSF):c.2760dup (p.Lys921fs)
|
rs1559177278
|
|
NM_001130987.2(DYSF):c.2826G>A (p.Trp942Ter)
|
rs1553553888
|
|
NM_001130987.2(DYSF):c.2864+2T>A
|
rs1553553943
|
|
NM_001130987.2(DYSF):c.2865-2A>C
|
rs886043964
|
|
NM_001130987.2(DYSF):c.2924_2928del (p.Gln975fs)
|
rs398123777
|
|
NM_001130987.2(DYSF):c.2948G>A (p.Trp983Ter)
|
rs1268594965
|
|
NM_001130987.2(DYSF):c.3085+2T>C
|
rs886042951
|
|
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys)
|
rs756328339
|
|
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter)
|
rs369607332
|
|
NM_001130987.2(DYSF):c.3284G>A (p.Trp1095Ter)
|
rs794727534
|
|
NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter)
|
rs746315830
|
|
NM_001130987.2(DYSF):c.3361A>T (p.Lys1121Ter)
|
rs1558513494
|
|
NM_001130987.2(DYSF):c.3381_3382del (p.Phe1128fs)
|
rs398123780
|
|
NM_001130987.2(DYSF):c.342del (p.Ala116fs)
|
rs886042379
|
|
NM_001130987.2(DYSF):c.3483del (p.Cys1162fs)
|
rs886042632
|
|
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer)
|
rs398123781
|
|
NM_001130987.2(DYSF):c.3566_3567del (p.Ser1189fs)
|
rs886042827
|
|
NM_001130987.2(DYSF):c.3570_3571del (p.Phe1190_Ser1191insTer)
|
rs766341386
|
|
NM_001130987.2(DYSF):c.3695del (p.Pro1232fs)
|
rs398123783
|
|
NM_001130987.2(DYSF):c.3757-2A>G
|
rs886043149
|
|
NM_001130987.2(DYSF):c.3786_3787del (p.Ile1262fs)
|
rs1558583697
|
|
NM_001130987.2(DYSF):c.3941C>G (p.Ser1314Ter)
|
rs1553377740
|
|
NM_001130987.2(DYSF):c.396_397del (p.Leu133fs)
|
rs398123784
|
|
NM_001130987.2(DYSF):c.410del (p.Pro137fs)
|
rs886043342
|
|
NM_001130987.2(DYSF):c.4144C>T (p.Gln1382Ter)
|
rs886042095
|
|
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs)
|
rs398123786
|
|
NM_001130987.2(DYSF):c.4317dup (p.Ile1440fs)
|
rs1553383144
|
|
NM_001130987.2(DYSF):c.4353C>G (p.Tyr1451Ter)
|
rs886043145
|
|
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter)
|
rs766016391
|
|
NM_001130987.2(DYSF):c.4576G>T (p.Glu1526Ter)
|
rs886042635
|
|
NM_001130987.2(DYSF):c.4614del (p.Phe1538fs)
|
rs886042578
|
|
NM_001130987.2(DYSF):c.4768del (p.Ile1590fs)
|
rs1179051248
|
|
NM_001130987.2(DYSF):c.4843C>T (p.Gln1615Ter)
|
rs1163488527
|
|
NM_001130987.2(DYSF):c.4989_4993delinsCCCC (p.Glu1663fs)
|
rs786200896
|
|
NM_001130987.2(DYSF):c.5003+1249G>T
|
rs886042110
|
|
NM_001130987.2(DYSF):c.5004-1G>A
|
rs886043170
|
|
NM_001130987.2(DYSF):c.5011G>T (p.Glu1671Ter)
|
rs398123790
|
|
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs)
|
rs1057519132
|
|
NM_001130987.2(DYSF):c.5174+1G>A
|
rs886042581
|
|
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp)
|
rs863225021
|
|
NM_001130987.2(DYSF):c.5317+1G>A
|
rs773386253
|
|
NM_001130987.2(DYSF):c.5383C>T (p.Gln1795Ter)
|
rs727503912
|
|
NM_001130987.2(DYSF):c.5437dup (p.Leu1813fs)
|
rs769873428
|
|
NM_001130987.2(DYSF):c.5546+1G>T
|
rs398123793
|
|
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys)
|
rs786205084
|
|
NM_001130987.2(DYSF):c.5614G>T (p.Glu1872Ter)
|
rs201592500
|
|
NM_001130987.2(DYSF):c.5642+1G>A
|
rs727503915
|
|
NM_001130987.2(DYSF):c.5646G>A (p.Trp1882Ter)
|
rs886043966
|
|
NM_001130987.2(DYSF):c.5763del (p.Val1922fs)
|
rs1553416197
|
|
NM_001130987.2(DYSF):c.5785-7G>A
|
rs753861836
|
|
NM_001130987.2(DYSF):c.5785-824C>T
|
rs1285082850
|
|
NM_001130987.2(DYSF):c.5815_5816del (p.Ser1939fs)
|
rs398123796
|
|
NM_001130987.2(DYSF):c.5938A>T (p.Lys1980Ter)
|
rs1553420738
|
|
NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs)
|
rs398123797
|
|
NM_001130987.2(DYSF):c.6063+1G>A
|
rs398123798
|
|
NM_001130987.2(DYSF):c.6064-1G>C
|
rs886042636
|
|
NM_001130987.2(DYSF):c.6139G>T (p.Glu2047Ter)
|
rs886043489
|
|
NM_001130987.2(DYSF):c.6333del (p.Ala2111_Met2112insTer)
|
rs886043884
|
|
NM_001130987.2(DYSF):c.682dup (p.His228fs)
|
rs886042680
|
|
NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter)
|
rs373585652
|
|
NM_001130987.2(DYSF):c.757C>T (p.Gln253Ter)
|
rs886044381
|
|
NM_001130987.2(DYSF):c.759+1G>C
|
rs398123800
|
|
NM_001130987.2(DYSF):c.886G>T (p.Glu296Ter)
|
rs794727851
|
|
NM_001130987.2(DYSF):c.888+2T>A
|
rs886042970
|
|
NM_001130987.2(DYSF):c.922del (p.Glu308fs)
|
rs1553522133
|
|
NM_001130987.2(DYSF):c.951+2T>G
|
rs886042590
|
|
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp)
|
rs121908963
|
|
NM_001130987.2(DYSF):c.995del (p.Glu332fs)
|
rs886044386
|
|
NM_001134407.3(GRIN2A):c.1007+1G>A
|
rs397518465
|
|
NM_001134407.3(GRIN2A):c.1453del (p.His485fs)
|
rs1555494781
|
|
NM_001134407.3(GRIN2A):c.2890del (p.Gln964fs)
|
rs886042168
|
|
NM_001134407.3(GRIN2A):c.3813G>A (p.Trp1271Ter)
|
rs886043129
|
|
NM_001142800.2(EYS):c.2055T>A (p.Cys685Ter)
|
rs372354156
|
|
NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter)
|
rs794727120
|
|
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)
|
rs761238771
|
|
NM_001142800.2(EYS):c.4610_4611del (p.Arg1537fs)
|
rs886042613
|
|
NM_001142800.2(EYS):c.4829_4832del (p.Ser1610fs)
|
rs886044304
|
|
NM_001142800.2(EYS):c.6794del (p.Pro2265fs)
|
rs758109813
|
|
NM_001142800.2(EYS):c.7422_7423del (p.Gly2474_Asp2475insTer)
|
rs1554169630
|
|
NM_001142800.2(EYS):c.8314del (p.Thr2772fs)
|
rs1561994347
|
|
NM_001142800.2(EYS):c.8408dup (p.Asn2803fs)
|
rs398123576
|
|
NM_001142800.2(EYS):c.9186_9187del (p.Asn3062fs)
|
rs886044149
|
|
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs)
|
rs770748359
|
|
NM_001145026.2(PTPRQ):c.3867_3871del (p.Tyr1289_Lys1291delinsTer)
|
rs1419144846
|
|
NM_001145026.2(PTPRQ):c.5390-1G>T
|
rs886043240
|
|
NM_001159699.2(FHL1):c.261C>A (p.Cys87Ter)
|
rs886044238
|
|
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp)
|
rs122458141
|
|
NM_001159773.2(CANT1):c.278del (p.Leu93fs)
|
rs767601069
|
|
NM_001159773.2(CANT1):c.902_906dup (p.Ser303fs)
|
rs587776895
|
|
NM_001164508.2(NEB):c.11184del (p.Lys3728fs)
|
rs1553901624
|
|
NM_001164508.2(NEB):c.12221dup (p.Thr4075fs)
|
rs1553883480
|
|
NM_001164508.2(NEB):c.1570-2A>G
|
rs1553603958
|
|
NM_001164508.2(NEB):c.17541dup (p.Tyr5848fs)
|
rs886043631
|
|
NM_001164508.2(NEB):c.17557_17558del (p.Glu5853fs)
|
rs886044005
|
|
NM_001164508.2(NEB):c.18862_18872del (p.Val6288fs)
|
rs886042141
|
|
NM_001164508.2(NEB):c.23496_23499del (p.Val7833fs)
|
rs762780413
|
|
NM_001164508.2(NEB):c.24665_24666del (p.Asn8221_Phe8222insTer)
|
rs794727136
|
|
NM_001164508.2(NEB):c.6385C>T (p.Gln2129Ter)
|
rs80344795
|
|
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs)
|
rs398124172
|
|
NM_001165963.4(SCN1A):c.1029-1G>C
|
rs398123579
|
|
NM_001165963.4(SCN1A):c.1162del (p.Tyr388fs)
|
rs398123580
|
|
NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys)
|
rs121917929
|
|
NM_001165963.4(SCN1A):c.1177del (p.Arg393fs)
|
rs1553546981
|
|
NM_001165963.4(SCN1A):c.1377+1G>C
|
rs886043864
|
|
NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter)
|
rs398123585
|
|
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter)
|
rs794726730
|
|
NM_001165963.4(SCN1A):c.2420dup (p.Thr808fs)
|
rs786200989
|
|
NM_001165963.4(SCN1A):c.2584C>T (p.Arg862Ter)
|
rs397514459
|
|
NM_001165963.4(SCN1A):c.2590-2A>G
|
rs727504140
|
|
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp)
|
rs121917965
|
|
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln)
|
rs121917918
|
|
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter)
|
rs727504136
|
|
NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter)
|
rs398123593
|
|
NM_001165963.4(SCN1A):c.4224G>A (p.Trp1408Ter)
|
rs794727337
|
|
NM_001165963.4(SCN1A):c.4284+2T>C
|
rs398123595
|
|
NM_001165963.4(SCN1A):c.4812del (p.Gly1603_Trp1604insTer)
|
rs886043532
|
|
NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter)
|
rs199727342
|
|
NM_001165963.4(SCN1A):c.5348C>T (p.Ala1783Val)
|
rs121917921
|
|
NM_001165963.4(SCN1A):c.5539del (p.Leu1847fs)
|
rs398123599
|
|
NM_001165963.4(SCN1A):c.602+1G>A
|
|
|
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)
|
rs121918624
|
|
NM_001165963.4(SCN1A):c.830del (p.Cys277fs)
|
rs794727786
|
|
NM_001170629.2(CHD8):c.5266dup (p.Tyr1756fs)
|
rs886043086
|
|
NM_001171.6(ABCC6):c.2814C>A (p.Tyr938Ter)
|
rs72653704
|
|
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)
|
rs201108965
|
|
NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln)
|
rs1191455921
|
|
NM_001174150.2(ARL13B):c.131-1G>T
|
rs373604132
|
|
NM_001182.5(ALDH7A1):c.1093+1G>A
|
rs794727058
|
|
NM_001182.5(ALDH7A1):c.1317+2T>C
|
rs1389460034
|
|
NM_001182.5(ALDH7A1):c.947dup (p.Ser317fs)
|
rs778003597
|
|
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs)
|
rs758946412
|
|
NM_001184880.2(PCDH19):c.1101del (p.Ile368fs)
|
rs886044166
|
|
NM_001184880.2(PCDH19):c.1265_1266del (p.Thr422fs)
|
rs886043572
|
|
NM_001184880.2(PCDH19):c.814C>T (p.Gln272Ter)
|
rs794726897
|
|
NM_001184880.2(PCDH19):c.841del (p.Val281fs)
|
rs1569315381
|
|
NM_001195553.2(DCX):c.763G>T (p.Glu255Ter)
|
rs727503898
|
|
NM_001195553.2(DCX):c.781C>T (p.Gln261Ter)
|
rs587783588
|
|
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs)
|
rs786204428
|
|
NM_001199107.2(TBC1D24):c.131G>A (p.Trp44Ter)
|
rs1567411053
|
|
NM_001199397.3(NEK1):c.117+1G>A
|
rs794727285
|
|
NM_001199973.2(RPL36A-HNRNPH2):c.300+2619T>G
|
rs797044497
|
|
NM_001199973.2(RPL36A-HNRNPH2):c.300+3399C>T
|
rs727503948
|
|
NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs)
|
rs397704718
|
|
NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter)
|
rs202193201
|
|
NM_001204.7(BMPR2):c.1128+1G>A
|
rs863223420
|
|
NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs)
|
rs763941231
|
|
NM_001206979.2(NR1H4):c.547C>T (p.Arg183Ter)
|
rs1555335324
|
|
NM_001242957.3(MAK):c.170_171del (p.Leu57fs)
|
rs886043417
|
|
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp)
|
rs879253888
|
|
NM_001252024.2(TRPM1):c.3571del (p.Glu1191fs)
|
rs778390089
|
|
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs)
|
rs80359870
|
|
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys)
|
rs281864927
|
|
NM_001267550.2(TTN):c.107889del (p.Lys35963fs)
|
rs281864930
|
|
NM_001267550.2(TTN):c.22145_22146del (p.Val7381_Phe7382insTer)
|
rs794727888
|
|
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg)
|
rs869320740
|
|
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp)
|
rs74315379
|
|
NM_001277115.2(DNAH11):c.10221_10222del (p.Cys3408fs)
|
rs886042735
|
|
NM_001277115.2(DNAH11):c.4818-2A>G
|
rs886044152
|
|
NM_001278116.2(L1CAM):c.23del (p.Val8fs)
|
rs398123362
|
|
NM_001278116.2(L1CAM):c.2879del (p.Glu960fs)
|
rs398123364
|
|
NM_001278116.2(L1CAM):c.3201T>G (p.Tyr1067Ter)
|
rs1569544629
|
|
NM_001278512.2(AP3B2):c.3235_3238del (p.Thr1079fs)
|
rs756807665
|
|
NM_001289104.2(PRKCSH):c.1481_1484del (p.Lys494fs)
|
rs794727187
|
|
NM_001291415.2(KDM6A):c.151G>T (p.Gly51Ter)
|
rs886043476
|
|
NM_001291867.2(NHS):c.1016G>A (p.Trp339Ter)
|
rs398124611
|
|
NM_001291867.2(NHS):c.1180C>T (p.Arg394Ter)
|
rs132630322
|
|
NM_001291867.2(NHS):c.2633del (p.Gly878fs)
|
rs727504044
|
|
NM_001291867.2(NHS):c.400del (p.Arg134fs)
|
rs398124608
|
|
NM_001291867.2(NHS):c.565+1G>T
|
rs727504040
|
|
NM_001297.5(CNGB1):c.2556dup (p.Lys853fs)
|
rs797044693
|
|
NM_001298.3(CNGA3):c.1320del (p.Trp440fs)
|
rs1553450762
|
|
NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His)
|
rs587777011
|
|
NM_001317778.2(SFTPC):c.218T>C (p.Ile73Thr)
|
rs121917834
|
|
NM_001318510.2(ACSL4):c.845_846del (p.His282fs)
|
rs886042180
|
|
NM_001319074.4(RAX2):c.344C>A (p.Ser115Ter)
|
rs398124431
|
|
NM_001323289.2(CDKL5):c.1108_1109dup (p.Asn370fs)
|
rs886043742
|
|
NM_001323289.2(CDKL5):c.1111del (p.Ala372fs)
|
rs1555951958
|
|
NM_001323289.2(CDKL5):c.1152C>G (p.Tyr384Ter)
|
rs794727064
|
|
NM_001323289.2(CDKL5):c.1365_1366insA (p.Gly456fs)
|
rs886044424
|
|
NM_001323289.2(CDKL5):c.1553del (p.Pro518fs)
|
rs886042899
|
|
NM_001323289.2(CDKL5):c.1891_1916del (p.Ile631fs)
|
rs794727063
|
|
NM_001323289.2(CDKL5):c.212del (p.Asn71fs)
|
rs886043296
|
|
NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr)
|
rs62641235
|
|
NM_001323289.2(CDKL5):c.554+1G>A
|
rs1555950083
|
|
NM_001323289.2(CDKL5):c.713del (p.Phe238fs)
|
rs1555950486
|
|
NM_001329943.3(KIAA0586):c.908del (p.Pro303fs)
|
rs1555378721
|
|
NM_001330078.2(NRXN1):c.3245-2A>G
|
rs886042846
|
|
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr)
|
rs794727361
|
|
NM_001347721.2(DYRK1A):c.542_545del (p.Ile181fs)
|
rs1555982601
|
|
NM_001349338.3(FOXP1):c.1240dup (p.Leu414fs)
|
rs797044652
|
|
NM_001349338.3(FOXP1):c.1317C>A (p.Tyr439Ter)
|
rs794727155
|
|
NM_001349338.3(FOXP1):c.1329C>A (p.Tyr443Ter)
|
rs1064793944
|
|
NM_001349338.3(FOXP1):c.1624C>T (p.Gln542Ter)
|
rs794727215
|
|
NM_001349338.3(FOXP1):c.1670_1685dup (p.Ser562fs)
|
rs398124429
|
|
NM_001349338.3(FOXP1):c.622C>T (p.Gln208Ter)
|
rs1553709881
|
|
NM_001351132.2(PEX5):c.449-2A>G
|
rs1555176945
|
|
NM_001352514.2(HLCS):c.2065C>T (p.Gln689Ter)
|
rs794727957
|
|
NM_001353214.3(DYM):c.122del (p.Phe41fs)
|
rs794727290
|
|
NM_001354712.2(THRB):c.1357C>A (p.Pro453Thr)
|
rs28933408
|
|
NM_001354712.2(THRB):c.67C>T (p.Arg23Ter)
|
rs886043743
|
|
NM_001354768.3(NRL):c.151C>T (p.Pro51Ser)
|
rs794727281
|
|
NM_001360.3(DHCR7):c.1055G>A (p.Arg352Gln)
|
rs121909768
|
|
NM_001360.3(DHCR7):c.385_412+5del
|
rs746482788
|
|
NM_001360.3(DHCR7):c.902A>G (p.His301Arg)
|
rs1565586067
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001366385.1(CARD14):c.412G>A (p.Glu138Lys)
|
rs1567872320
|
|
NM_001367624.2(ZNF469):c.6444del (p.Gln2149fs)
|
rs886044697
|
|
NM_001367624.2(ZNF469):c.9268C>T (p.Arg3090Ter)
|
rs764139968
|
|
NM_001367721.1(CASK):c.79C>T (p.Arg27Ter)
|
rs794727270
|
|
NM_001368894.2(PAX6):c.1280_1284dup (p.Ser429fs)
|
rs797044642
|
|
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)
|
rs121907922
|
|
NM_001368894.2(PAX6):c.399+1G>A
|
rs398123295
|
|
NM_001368894.2(PAX6):c.46del (p.Val16fs)
|
rs398123296
|
|
NM_001368894.2(PAX6):c.524del (p.Gly175fs)
|
rs886043350
|
|
NM_001368894.2(PAX6):c.649C>T (p.Arg217Ter)
|
rs121907916
|
|
NM_001368894.2(PAX6):c.921_936dup (p.Ile313fs)
|
rs797044627
|
|
NM_001368894.2(PAX6):c.994del (p.Thr332fs)
|
rs1554983140
|
|
NM_001369.3(DNAH5):c.271G>T (p.Glu91Ter)
|
rs750649191
|
|
NM_001369.3(DNAH5):c.4797-1G>C
|
rs1561449604
|
|
NM_001370259.2(MEN1):c.1308G>T (p.Trp436Cys)
|
rs398124435
|
|
NM_001370259.2(MEN1):c.1685dup (p.Glu563fs)
|
rs398124436
|
|
NM_001370259.2(MEN1):c.307del (p.Leu103fs)
|
rs794728639
|
|
NM_001370259.2(MEN1):c.912+1G>A
|
rs398124437
|
|
NM_001370259.2(MEN1):c.936C>G (p.Tyr312Ter)
|
rs386134260
|
|
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs)
|
rs672601248
|
|
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del)
|
rs397514404
|
|
NM_001370658.1(BTD):c.1448_1452del (p.Gly483fs)
|
rs398123138
|
|
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)
|
rs80338684
|
|
NM_001371596.2(MFSD8):c.998+1G>A
|
rs1553946656
|
|
NM_001374353.1(GLI2):c.1370G>A (p.Trp457Ter)
|
rs1553476382
|
|
NM_001374353.1(GLI2):c.2748_2794del (p.Leu918fs)
|
rs1558941490
|
|
NM_001374385.1(ATP8B1):c.1660G>A (p.Asp554Asn)
|
rs121909101
|
|
NM_001374385.1(ATP8B1):c.2453_2456del (p.Asn818fs)
|
rs1568183268
|
|
NM_001374385.1(ATP8B1):c.2605del (p.Thr869fs)
|
rs1568183127
|
|
NM_001374385.1(ATP8B1):c.3410C>G (p.Ser1137Ter)
|
rs74414989
|
|
NM_001374385.1(ATP8B1):c.614dup (p.Asn205fs)
|
rs761784230
|
|
NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter)
|
rs794727977
|
|
NM_001374828.1(ARID1B):c.4147_4149delinsAG (p.Tyr1383fs)
|
rs1554233122
|
|
NM_001374828.1(ARID1B):c.4383-1G>A
|
rs886044620
|
|
NM_001374828.1(ARID1B):c.4794C>G (p.Tyr1598Ter)
|
rs1562345819
|
|
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)
|
rs587780564
|
|
NM_001377.3(DYNC2H1):c.2040dup (p.Ala681fs)
|
rs1555042801
|
|
NM_001377.3(DYNC2H1):c.5846del (p.Glu1949fs)
|
rs794727595
|
|
NM_001377.3(DYNC2H1):c.8145_8146delinsAT (p.Tyr2715_Gln2716delinsTer)
|
rs1565390180
|
|
NM_001378120.1(MBD5):c.340_347del (p.Lys114fs)
|
rs794727928
|
|
NM_001378454.1(ALMS1):c.3572del (p.Phe1191fs)
|
rs1558648759
|
|
NM_001378454.1(ALMS1):c.7654del (p.Arg2552fs)
|
rs1553404662
|
|
NM_001378454.1(ALMS1):c.8005C>T (p.Arg2669Ter)
|
rs549857076
|
|
NM_001378477.3(NYX):c.23-1_23delinsTT
|
rs1555967031
|
|
NM_001378477.3(NYX):c.70_93del (p.Arg24_Ala31del)
|
rs281865194
|
|
NM_001378615.1(CC2D2A):c.1297_1299delinsAA (p.Gln433fs)
|
rs1560166511
|
|
NM_001378615.1(CC2D2A):c.1666del (p.Glu555_Ile556insTer)
|
rs773740057
|
|
NM_001378615.1(CC2D2A):c.199del (p.Glu67fs)
|
rs1433294475
|
|
NM_001378615.1(CC2D2A):c.3545G>A (p.Trp1182Ter)
|
rs1560188288
|
|
NM_001378615.1(CC2D2A):c.3652C>T (p.Arg1218Ter)
|
rs375278294
|
|
NM_001378615.1(CC2D2A):c.3774dup (p.Glu1259Ter)
|
rs386833757
|
|
NM_001378615.1(CC2D2A):c.4065+2T>C
|
rs1179041639
|
|
NM_001378615.1(CC2D2A):c.4179+1G>A
|
rs886044295
|
|
NM_001378615.1(CC2D2A):c.4179+1del
|
rs386833760
|
|
NM_001378615.1(CC2D2A):c.4295_4298del (p.Gly1431_Cys1432insTer)
|
rs1560196436
|
|
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs)
|
rs797045437
|
|
NM_001378615.1(CC2D2A):c.4489C>T (p.Gln1497Ter)
|
rs1553845302
|
|
NM_001378615.1(CC2D2A):c.834del (p.Leu279fs)
|
rs386833765
|
|
NM_001378778.1(MPDZ):c.5302C>T (p.Gln1768Ter)
|
rs886043499
|
|
NM_001379081.2(FREM1):c.4941C>A (p.Tyr1647Ter)
|
rs373880888
|
|
NM_001379110.1(SLC9A6):c.448-1G>A
|
rs797044508
|
|
NM_001379110.1(SLC9A6):c.916C>T (p.Gln306Ter)
|
rs398124224
|
|
NM_001379500.1(COL18A1):c.2056del (p.Arg686fs)
|
rs886043809
|
|
NM_001382391.1(CSPP1):c.1153G>T (p.Glu385Ter)
|
rs886044058
|
|
NM_001384140.1(PCDH15):c.3040_3047dup (p.Met1016delinsIleLeuTer)
|
rs1554882652
|
|
NM_001384140.1(PCDH15):c.706-3_717del
|
rs769348776
|
|
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs)
|
rs1555683951
|
|
NM_001384474.1(LOXHD1):c.2870C>A (p.Ser957Ter)
|
rs1440105492
|
|
NM_001384474.1(LOXHD1):c.894T>G (p.Tyr298Ter)
|
rs886043441
|
|
NM_001384732.1(CPLANE1):c.1372-2A>G
|
rs886043786
|
|
NM_001384732.1(CPLANE1):c.1819dup (p.Tyr607fs)
|
rs777686211
|
|
NM_001384732.1(CPLANE1):c.9085del (p.Ser3029fs)
|
rs794727691
|
|
NM_001386393.1(PANK2):c.-21G>T
|
rs780551883
|
|
NM_001393500.2(TOMT):c.259+1G>A
|
rs1565330066
|
|
NM_001399.5(EDA):c.396+2T>C
|
rs727504814
|
|
NM_001399.5(EDA):c.457C>T (p.Arg153Cys)
|
rs397516662
|
|
NM_001399.5(EDA):c.659_676del (p.217_219PGP[1])
|
rs876657686
|
|
NM_001429.4(EP300):c.2540dup (p.Ser848fs)
|
rs1569107391
|
|
NM_001429.4(EP300):c.4065C>A (p.Tyr1355Ter)
|
rs886043598
|
|
NM_001453.3(FOXC1):c.290dup (p.Lys98fs)
|
rs886044143
|
|
NM_001457.4(FLNB):c.6616G>T (p.Gly2206Ter)
|
rs886043158
|
|
NM_001793.6(CDH3):c.895C>T (p.Gln299Ter)
|
rs866290802
|
|
NM_001844.4(COL2A1):c.2465delG (p.Gly822Valfs)
|
rs886044292
|
|
NM_001844.5(COL2A1):c.1023+1G>A
|
rs886043794
|
|
NM_001844.5(COL2A1):c.1052del (p.Gly351fs)
|
rs398123628
|
|
NM_001844.5(COL2A1):c.1056del (p.Ala353fs)
|
rs794727185
|
|
NM_001844.5(COL2A1):c.1071del (p.Pro358fs)
|
rs886043797
|
|
NM_001844.5(COL2A1):c.1123-1G>A
|
rs1565684864
|
|
NM_001844.5(COL2A1):c.1214del (p.Gly405fs)
|
rs794727225
|
|
NM_001844.5(COL2A1):c.1358G>C (p.Gly453Ala)
|
rs794727339
|
|
NM_001844.5(COL2A1):c.1420-2A>C
|
rs794727377
|
|
NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser)
|
rs121912880
|
|
NM_001844.5(COL2A1):c.1510G>T (p.Gly504Cys)
|
rs121912880
|
|
NM_001844.5(COL2A1):c.1636G>A (p.Gly546Ser)
|
rs886044555
|
|
NM_001844.5(COL2A1):c.1924G>T (p.Gly642Ter)
|
rs794727472
|
|
NM_001844.5(COL2A1):c.2015G>C (p.Gly672Ala)
|
rs794727546
|
|
NM_001844.5(COL2A1):c.2219dup (p.Gly741fs)
|
rs1565677720
|
|
NM_001844.5(COL2A1):c.2353C>T (p.Arg785Ter)
|
rs886043410
|
|
NM_001844.5(COL2A1):c.2382del (p.Gly795fs)
|
rs886044151
|
|
NM_001844.5(COL2A1):c.2530C>T (p.Gln844Ter)
|
rs794727607
|
|
NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter)
|
rs794727261
|
|
NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter)
|
rs121912866
|
|
NM_001844.5(COL2A1):c.297del (p.Gln99fs)
|
rs886044245
|
|
NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter)
|
rs748459670
|
|
NM_001844.5(COL2A1):c.310G>T (p.Gly104Ter)
|
rs764210489
|
|
NM_001844.5(COL2A1):c.3138del (p.Gly1047fs)
|
rs121912873
|
|
NM_001844.5(COL2A1):c.3382G>C (p.Gly1128Arg)
|
rs886042612
|
|
NM_001844.5(COL2A1):c.3574C>T (p.Arg1192Ter)
|
rs886042651
|
|
NM_001844.5(COL2A1):c.3791_3794del (p.Asn1264fs)
|
rs794727748
|
|
NM_001844.5(COL2A1):c.3887-1G>C
|
rs1565666318
|
|
NM_001844.5(COL2A1):c.4195_4205delinsAGCATTGCC (p.Tyr1399fs)
|
rs1555164385
|
|
NM_001844.5(COL2A1):c.4328del (p.Gly1443fs)
|
rs1555164232
|
|
NM_001844.5(COL2A1):c.4447_4450del (p.Pro1483fs)
|
rs794727761
|
|
NM_001844.5(COL2A1):c.714dup (p.Met239fs)
|
rs886043934
|
|
NM_001844.5(COL2A1):c.762+1G>A
|
rs794727026
|
|
NM_001844.5(COL2A1):c.85+1G>C
|
rs727503882
|
|
NM_001844.5(COL2A1):c.908G>A (p.Gly303Asp)
|
rs121912877
|
|
NM_001848.3(COL6A1):c.1002+1G>A
|
rs886043700
|
|
NM_001848.3(COL6A1):c.1002+1G>T
|
rs886043700
|
|
NM_001848.3(COL6A1):c.1002+2T>G
|
rs1322590833
|
|
NM_001848.3(COL6A1):c.1003-12_1006delinsGGA
|
rs1556425832
|
|
NM_001848.3(COL6A1):c.1003-1G>A
|
rs886043330
|
|
NM_001848.3(COL6A1):c.1003-2del
|
rs1556425835
|
|
NM_001848.3(COL6A1):c.1013G>A (p.Gly338Glu)
|
rs794727121
|
|
NM_001848.3(COL6A1):c.1021G>T (p.Gly341Cys)
|
rs886043321
|
|
NM_001848.3(COL6A1):c.1022G>T (p.Gly341Val)
|
rs121912935
|
|
NM_001848.3(COL6A1):c.1039_1052del (p.Lys346_Gly347insTer)
|
rs886043291
|
|
NM_001848.3(COL6A1):c.1056+1G>A
|
rs398123631
|
|
NM_001848.3(COL6A1):c.1056+1del
|
rs1556425853
|
|
NM_001848.3(COL6A1):c.1425del (p.Gly476fs)
|
rs878854398
|
|
NM_001848.3(COL6A1):c.1611+1G>A
|
rs886042748
|
|
NM_001848.3(COL6A1):c.1641_1642del (p.Asp548fs)
|
rs1569518771
|
|
NM_001848.3(COL6A1):c.2122C>T (p.Gln708Ter)
|
rs1569519109
|
|
NM_001848.3(COL6A1):c.2160dup (p.Asn721fs)
|
rs1249738773
|
|
NM_001848.3(COL6A1):c.2435-2A>G
|
rs940473416
|
|
NM_001848.3(COL6A1):c.315_349del (p.Met106fs)
|
rs886043147
|
|
NM_001848.3(COL6A1):c.362A>G (p.Lys121Arg)
|
rs121912936
|
|
NM_001848.3(COL6A1):c.782_789del (p.Leu261fs)
|
rs886043354
|
|
NM_001848.3(COL6A1):c.805-2A>G
|
rs398123639
|
|
NM_001848.3(COL6A1):c.811C>T (p.Arg271Ter)
|
rs1391624796
|
|
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg)
|
rs121912938
|
|
NM_001848.3(COL6A1):c.859-1G>C
|
rs1556425531
|
|
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg)
|
rs121912939
|
|
NM_001848.3(COL6A1):c.903+1G>T
|
rs1569518119
|
|
NM_001848.3(COL6A1):c.904-2A>G
|
rs1057519174
|
|
NM_001848.3(COL6A1):c.904G>A (p.Gly302Arg)
|
rs794727028
|
|
NM_001848.3(COL6A1):c.904G>C (p.Gly302Arg)
|
rs794727028
|
|
NM_001848.3(COL6A1):c.928_930del (p.Lys310del)
|
rs886043114
|
|
NM_001848.3(COL6A1):c.930+189C>T
|
rs1556425596
|
|
NM_001848.3(COL6A1):c.930+1G>A
|
rs886042902
|
|
NM_001848.3(COL6A1):c.931-1G>A
|
rs886042354
|
|
NM_001848.3(COL6A1):c.931-1G>C
|
rs886042354
|
|
NM_001848.3(COL6A1):c.932G>A (p.Gly311Asp)
|
rs886044231
|
|
NM_001848.3(COL6A1):c.957+1G>A
|
rs886044535
|
|
NM_001848.3(COL6A1):c.957+2T>C
|
rs794727060
|
|
NM_001848.3(COL6A1):c.957_957+7del
|
rs1556425687
|
|
NM_001848.3(COL6A1):c.98-2_103del
|
rs1556423703
|
|
NM_001849.3(COL6A2):c.2312dup (p.Asn771Lysfs)
|
rs886043164
|
|
NM_001849.4(COL6A2):c.1000-1G>T
|
rs1555873358
|
|
NM_001849.4(COL6A2):c.1000-2A>C
|
rs1555873356
|
|
NM_001849.4(COL6A2):c.1000-2_1000-1inv
|
|
|
NM_001849.4(COL6A2):c.1053+1G>A
|
rs886043187
|
|
NM_001849.4(COL6A2):c.1053+1G>C
|
rs886043187
|
|
NM_001849.4(COL6A2):c.1053+2del
|
rs886044140
|
|
NM_001849.4(COL6A2):c.1054-2A>G
|
rs886044023
|
|
NM_001849.4(COL6A2):c.1096C>T (p.Arg366Ter)
|
rs387906609
|
|
NM_001849.4(COL6A2):c.1180-1G>C
|
rs751409618
|
|
NM_001849.4(COL6A2):c.1396-11_1396-2del
|
rs886044484
|
|
NM_001849.4(COL6A2):c.1458+1G>A
|
rs886044526
|
|
NM_001849.4(COL6A2):c.1522-1G>A
|
rs398123646
|
|
NM_001849.4(COL6A2):c.1561C>T (p.Arg521Ter)
|
rs773686174
|
|
NM_001849.4(COL6A2):c.1751del (p.Pro584fs)
|
rs886044398
|
|
NM_001849.4(COL6A2):c.1861G>A (p.Asp621Asn)
|
rs267606750
|
|
NM_001849.4(COL6A2):c.2284_2285del (p.Met762fs)
|
rs778129335
|
|
NM_001849.4(COL6A2):c.265C>T (p.Gln89Ter)
|
rs1555871390
|
|
NM_001849.4(COL6A2):c.736-2A>G
|
rs1057518925
|
|
NM_001849.4(COL6A2):c.736-7_739del
|
rs1555872143
|
|
NM_001849.4(COL6A2):c.785G>A (p.Gly262Asp)
|
rs886042943
|
|
NM_001849.4(COL6A2):c.796_801+6del
|
rs1555872200
|
|
NM_001849.4(COL6A2):c.801+1G>A
|
rs794727715
|
|
NM_001849.4(COL6A2):c.801+1G>T
|
rs794727715
|
|
NM_001849.4(COL6A2):c.802-2A>G
|
rs886044399
|
|
NM_001849.4(COL6A2):c.812G>A (p.Gly271Asp)
|
rs794727788
|
|
NM_001849.4(COL6A2):c.830del (p.Gly277fs)
|
rs1555872819
|
|
NM_001849.4(COL6A2):c.855+2T>G
|
rs113525292
|
|
NM_001849.4(COL6A2):c.856-2A>C
|
rs886044466
|
|
NM_001849.4(COL6A2):c.865G>T (p.Gly289Cys)
|
rs886043270
|
|
NM_001849.4(COL6A2):c.875G>T (p.Gly292Val)
|
rs794727855
|
|
NM_001849.4(COL6A2):c.883G>A (p.Gly295Arg)
|
rs1555872873
|
|
NM_001849.4(COL6A2):c.900+1G>A
|
rs886044261
|
|
NM_001849.4(COL6A2):c.900+1G>C
|
rs886044261
|
|
NM_001849.4(COL6A2):c.901G>A (p.Gly301Ser)
|
rs886042705
|
|
NM_001854.4(COL11A1):c.3168+1G>T
|
rs886042653
|
|
NM_001854.4(COL11A1):c.3709-1G>A
|
rs727503881
|
|
NM_001854.4(COL11A1):c.3816+1G>A
|
rs398122828
|
|
NM_001854.4(COL11A1):c.4032+1G>A
|
rs1553200868
|
|
NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val)
|
rs1553193910
|
|
NM_001854.4(COL11A1):c.4554+1G>C
|
rs886044244
|
|
NM_001875.5(CPS1):c.487G>T (p.Gly163Ter)
|
rs200214298
|
|
NM_001876.4(CPT1A):c.222C>A (p.Tyr74Ter)
|
rs398123654
|
|
NM_001876.4(CPT1A):c.298C>T (p.Gln100Ter)
|
rs80356774
|
|
NM_001876.4(CPT1A):c.548_549del (p.Val183fs)
|
rs886042250
|
|
NM_001904.4(CTNNB1):c.1444C>T (p.Gln482Ter)
|
rs1559474557
|
|
NM_001904.4(CTNNB1):c.1494dup (p.His499fs)
|
rs1553631896
|
|
NM_001918.5(DBT):c.126T>G (p.Tyr42Ter)
|
rs794727262
|
|
NM_001918.5(DBT):c.251G>A (p.Trp84Ter)
|
rs398123665
|
|
NM_001918.5(DBT):c.272_275del (p.Thr91fs)
|
rs398123666
|
|
NM_001918.5(DBT):c.339_345del (p.Tyr114fs)
|
rs398123667
|
|
NM_001918.5(DBT):c.360del (p.Lys120fs)
|
rs398123668
|
|
NM_001918.5(DBT):c.433+1G>T
|
rs794727635
|
|
NM_001918.5(DBT):c.51+1G>T
|
rs398123669
|
|
NM_001918.5(DBT):c.773-2A>G
|
rs398123674
|
|
NM_001927.4(DES):c.1049G>C (p.Arg350Pro)
|
rs57965306
|
|
NM_001927.4(DES):c.1069G>C (p.Ala357Pro)
|
rs58898021
|
|
NM_001927.4(DES):c.1076_1084del (p.Glu359_Ser361del)
|
rs58409037
|
|
NM_001927.4(DES):c.1109T>C (p.Leu370Pro)
|
rs59308628
|
|
NM_001927.4(DES):c.1213del (p.Tyr405fs)
|
rs886043080
|
|
NM_001927.4(DES):c.1216C>T (p.Arg406Trp)
|
rs121913003
|
|
NM_001927.4(DES):c.1325C>T (p.Thr442Ile)
|
rs121913005
|
|
NM_001927.4(DES):c.1360C>T (p.Arg454Trp)
|
rs267607490
|
|
NM_001927.4(DES):c.373A>T (p.Lys125Ter)
|
rs886043000
|
|
NM_001927.4(DES):c.38C>T (p.Ser13Phe)
|
rs62636495
|
|
NM_001927.4(DES):c.735+1G>A
|
rs397516698
|
|
NM_001927.4(DES):c.735+3A>G
|
rs267607483
|
|
NM_001927.4(DES):c.735G>A (p.Glu245=)
|
rs267607486
|
|
NM_001927.4(DES):c.735G>C (p.Glu245Asp)
|
rs267607486
|
|
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)
|
rs558269137
|
|
NM_002180.3(IGHMBP2):c.2197_2203delinsCA (p.Ile733fs)
|
rs886042313
|
|
NM_002180.3(IGHMBP2):c.242del (p.Asn81fs)
|
rs1249076926
|
|
NM_002180.3(IGHMBP2):c.2560C>T (p.Gln854Ter)
|
rs750024353
|
|
NM_002180.3(IGHMBP2):c.2598_2599del (p.Lys868fs)
|
rs886043774
|
|
NM_002185.5(IL7R):c.340_341del (p.Lys114fs)
|
rs1561421608
|
|
NM_002225.5(IVD):c.650del (p.Pro217fs)
|
rs1364046355
|
|
NM_002294.3(LAMP2):c.579_586del (p.Lys193fs)
|
rs398123685
|
|
NM_002294.3(LAMP2):c.877C>T (p.Arg293Ter)
|
rs727503118
|
|
NM_002303.6(LEPR):c.2296A>T (p.Lys766Ter)
|
rs765551290
|
|
NM_002303.6(LEPR):c.479del (p.His160fs)
|
rs1557670990
|
|
NM_002335.4(LRP5):c.185del (p.Leu62fs)
|
rs1555072861
|
|
NM_002335.4(LRP5):c.2718_2721del (p.Met907fs)
|
rs1244761864
|
|
NM_002335.4(LRP5):c.2827+1G>A
|
rs1565092365
|
|
NM_002397.5(MEF2C):c.926dup (p.Gly310fs)
|
rs786200981
|
|
NM_002427.4(MMP13):c.772dup (p.Asp258fs)
|
rs797044754
|
|
NM_002437.5(MPV17):c.280-1dup
|
rs766160589
|
|
NM_002547.3(OPHN1):c.772del (p.Gln258fs)
|
rs886044499
|
|
NM_002615.7(SERPINF1):c.653del (p.Val218fs)
|
rs398122520
|
|
NM_002617.4(PEX10):c.295del (p.His99fs)
|
rs1557910651
|
|
NM_002617.4(PEX10):c.761del (p.Gly254fs)
|
rs1553231820
|
|
NM_002617.4(PEX10):c.835G>T (p.Glu279Ter)
|
rs62641225
|
|
NM_002617.4(PEX10):c.867_868insG (p.His290fs)
|
rs797044762
|
|
NM_002633.3(PGM1):c.184G>C (p.Asp62His)
|
rs587777403
|
|
NM_002691.4(POLD1):c.1809CTC[1] (p.Ser605del)
|
rs398122386
|
|
NM_002693.3(POLG):c.1024-1G>C
|
rs1567192203
|
|
NM_002693.3(POLG):c.1073del (p.Glu358fs)
|
rs763418954
|
|
NM_002693.3(POLG):c.160C>T (p.Gln54Ter)
|
rs774768199
|
|
NM_002693.3(POLG):c.1789C>T (p.Arg597Trp)
|
rs139717885
|
|
NM_002693.3(POLG):c.3609_3612dup (p.Gly1205fs)
|
rs886043241
|
|
NM_002693.3(POLG):c.3643+2T>C
|
rs1335880349
|
|
NM_002693.3(POLG):c.925C>T (p.Arg309Cys)
|
rs886041592
|
|
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)
|
rs886037952
|
|
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)
|
rs121908595
|
|
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala)
|
rs121918469
|
|
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)
|
rs397507545
|
|
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)
|
rs397507547
|
|
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu)
|
rs397507549
|
|
NM_002834.5(PTPN11):c.172A>C (p.Asn58His)
|
rs397507505
|
|
NM_002834.5(PTPN11):c.178G>T (p.Gly60Cys)
|
rs397507507
|
|
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.205G>C (p.Glu69Gln)
|
rs397507511
|
|
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>G (p.Asn308Ser)
|
rs121918455
|
|
NM_002863.5(PYGL):c.1648dup (p.Leu550fs)
|
rs529502292
|
|
NM_002878.4(RAD51D):c.326dup (p.Gly110fs)
|
rs730882119
|
|
NM_002880.4(RAF1):c.1457A>G (p.Asp486Gly)
|
rs397516815
|
|
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)
|
rs80338796
|
|
NM_002880.4(RAF1):c.781C>G (p.Pro261Ala)
|
rs121434594
|
|
NM_002880.4(RAF1):c.782C>G (p.Pro261Arg)
|
rs397516828
|
|
NM_002968.3(SALL1):c.727C>T (p.Gln243Ter)
|
rs886044708
|
|
NM_003000.3(SDHB):c.111_112dup (p.Arg38fs)
|
rs398123690
|
|
NM_003000.3(SDHB):c.287-1G>C
|
rs397516833
|
|
NM_003000.3(SDHB):c.72+1G>T
|
rs587782703
|
|
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu)
|
rs72552726
|
|
NM_003060.4(SLC22A5):c.458_459del (p.Val153fs)
|
rs386134195
|
|
NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro)
|
rs72552723
|
|
NM_003060.4(SLC22A5):c.56_57delinsCT (p.Arg19Pro)
|
rs1561560424
|
|
NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter)
|
rs121908893
|
|
NM_003106.4(SOX2):c.480C>G (p.Tyr160Ter)
|
rs55683010
|
|
NM_003106.4(SOX2):c.518_522dup (p.Gln175Ter)
|
rs886043936
|
|
NM_003106.4(SOX2):c.59dup (p.Gly21fs)
|
rs398122803
|
|
NM_003106.4(SOX2):c.70_89del (p.Asn24fs)
|
rs398123693
|
|
NM_003119.4(SPG7):c.1053dup (p.Gly352fs)
|
rs760818649
|
|
NM_003172.4(SURF1):c.845_846del (p.Ser282fs)
|
rs782316919
|
|
NM_003283.6(TNNT1):c.31_32+1del
|
rs944152647
|
|
NM_003283.6(TNNT1):c.323C>G (p.Ser108Ter)
|
rs727504177
|
|
NM_003289.4(TPM2):c.349G>A (p.Glu117Lys)
|
rs104894129
|
|
NM_003289.4(TPM2):c.397C>T (p.Arg133Trp)
|
rs137853305
|
|
NM_003361.4(UMOD):c.744C>G (p.Cys248Trp)
|
rs886043751
|
|
NM_003361.4(UMOD):c.944G>A (p.Cys315Tyr)
|
rs398123698
|
|
NM_003401.5(XRCC4):c.25del (p.His9fs)
|
rs869320677
|
|
NM_003413.4(ZIC3):c.1025del (p.Ser342fs)
|
rs886042663
|
|
NM_003482.4(KMT2D):c.10623_10629delinsCGCAAGTCACG (p.Leu3542fs)
|
rs398123699
|
|
NM_003482.4(KMT2D):c.10819C>T (p.Gln3607Ter)
|
rs398123701
|
|
NM_003482.4(KMT2D):c.10834C>T (p.Gln3612Ter)
|
rs398123702
|
|
NM_003482.4(KMT2D):c.11149C>T (p.Gln3717Ter)
|
rs398123704
|
|
NM_003482.4(KMT2D):c.11201_11202del (p.Leu3734fs)
|
rs398123706
|
|
NM_003482.4(KMT2D):c.11214del (p.Gln3738fs)
|
rs1555188885
|
|
NM_003482.4(KMT2D):c.11692C>T (p.Gln3898Ter)
|
rs398123708
|
|
NM_003482.4(KMT2D):c.11713C>T (p.Gln3905Ter)
|
rs886042253
|
|
NM_003482.4(KMT2D):c.11939del (p.Gln3980fs)
|
rs794727610
|
|
NM_003482.4(KMT2D):c.12406C>T (p.Gln4136Ter)
|
rs398123711
|
|
NM_003482.4(KMT2D):c.12430C>T (p.Gln4144Ter)
|
rs398123712
|
|
NM_003482.4(KMT2D):c.12481del (p.Glu4161fs)
|
rs794727611
|
|
NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter)
|
rs1057517992
|
|
NM_003482.4(KMT2D):c.1300dup (p.Leu434fs)
|
rs398123715
|
|
NM_003482.4(KMT2D):c.13032del (p.Lys4345fs)
|
rs398123716
|
|
NM_003482.4(KMT2D):c.13324del (p.Ala4442fs)
|
rs886043505
|
|
NM_003482.4(KMT2D):c.133del (p.Ser45fs)
|
rs727503990
|
|
NM_003482.4(KMT2D):c.13606C>T (p.Arg4536Ter)
|
rs587783692
|
|
NM_003482.4(KMT2D):c.13780dup (p.Ala4594fs)
|
rs797044740
|
|
NM_003482.4(KMT2D):c.14580dup (p.Asp4861Ter)
|
rs398123720
|
|
NM_003482.4(KMT2D):c.14885dup (p.Pro4963fs)
|
rs797044744
|
|
NM_003482.4(KMT2D):c.15030dup (p.Glu5011fs)
|
rs398123722
|
|
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter)
|
rs587783695
|
|
NM_003482.4(KMT2D):c.15172del (p.Val5058fs)
|
rs794727689
|
|
NM_003482.4(KMT2D):c.15256C>T (p.Arg5086Ter)
|
rs727503979
|
|
NM_003482.4(KMT2D):c.15535C>T (p.Arg5179Cys)
|
rs794727688
|
|
NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His)
|
rs267607237
|
|
NM_003482.4(KMT2D):c.15953_15956del (p.Leu5318fs)
|
rs398123732
|
|
NM_003482.4(KMT2D):c.16109del (p.Gly5370fs)
|
rs398123733
|
|
NM_003482.4(KMT2D):c.16306_16322delinsC (p.Ala5436fs)
|
rs398123735
|
|
NM_003482.4(KMT2D):c.16412+1G>T
|
rs794727752
|
|
NM_003482.4(KMT2D):c.16438_16441del (p.Asn5480fs)
|
rs587783703
|
|
NM_003482.4(KMT2D):c.177-9_178del
|
rs794727497
|
|
NM_003482.4(KMT2D):c.1814_1815del (p.Glu605fs)
|
rs727503989
|
|
NM_003482.4(KMT2D):c.1940del (p.Pro647fs)
|
rs770315135
|
|
NM_003482.4(KMT2D):c.1966del (p.Leu656fs)
|
rs886042284
|
|
NM_003482.4(KMT2D):c.2624_2625delinsAGGCCAAAA (p.Pro875fs)
|
rs1555196720
|
|
NM_003482.4(KMT2D):c.2747_2748delinsAGCTGAGCCATCC (p.Pro916fs)
|
rs797044630
|
|
NM_003482.4(KMT2D):c.2797+1G>A
|
rs727503988
|
|
NM_003482.4(KMT2D):c.3121C>T (p.Gln1041Ter)
|
rs587783711
|
|
NM_003482.4(KMT2D):c.3532C>T (p.Gln1178Ter)
|
rs398123741
|
|
NM_003482.4(KMT2D):c.3582dup (p.Thr1195fs)
|
rs796065328
|
|
NM_003482.4(KMT2D):c.3754C>T (p.Arg1252Ter)
|
rs727503987
|
|
NM_003482.4(KMT2D):c.3834_3846del (p.Ile1279fs)
|
rs398123743
|
|
NM_003482.4(KMT2D):c.4009G>T (p.Glu1337Ter)
|
rs727503986
|
|
NM_003482.4(KMT2D):c.4135_4136del (p.Met1379fs)
|
rs398123744
|
|
NM_003482.4(KMT2D):c.4168dup (p.Ala1390fs)
|
rs756471180
|
|
NM_003482.4(KMT2D):c.4265G>A (p.Trp1422Ter)
|
rs794727143
|
|
NM_003482.4(KMT2D):c.4485C>G (p.Tyr1495Ter)
|
rs574622908
|
|
NM_003482.4(KMT2D):c.5104C>T (p.Arg1702Ter)
|
rs886043414
|
|
NM_003482.4(KMT2D):c.5124_5125del (p.Arg1709fs)
|
rs886043506
|
|
NM_003482.4(KMT2D):c.5131A>T (p.Lys1711Ter)
|
rs794727342
|
|
NM_003482.4(KMT2D):c.5423del (p.Gly1808fs)
|
rs794727379
|
|
NM_003482.4(KMT2D):c.5645-2A>G
|
rs398123750
|
|
NM_003482.4(KMT2D):c.5677C>T (p.Gln1893Ter)
|
rs794727420
|
|
NM_003482.4(KMT2D):c.5908_5915del (p.Asp1970fs)
|
rs398123751
|
|
NM_003482.4(KMT2D):c.5998C>T (p.Gln2000Ter)
|
rs1565798715
|
|
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs)
|
rs398123753
|
|
NM_003482.4(KMT2D):c.7066C>T (p.Gln2356Ter)
|
rs398123757
|
|
NM_003482.4(KMT2D):c.7140del (p.Gln2380fs)
|
rs398123758
|
|
NM_003482.4(KMT2D):c.7375_7376del (p.Ser2459fs)
|
rs794727548
|
|
NM_003482.4(KMT2D):c.7643dup (p.Pro2549fs)
|
rs886043495
|
|
NM_003482.4(KMT2D):c.7903C>T (p.Arg2635Ter)
|
rs794727549
|
|
NM_003482.4(KMT2D):c.8488C>T (p.Arg2830Ter)
|
rs727503983
|
|
NM_003482.4(KMT2D):c.8794_8795del (p.Gln2932fs)
|
rs1565788703
|
|
NM_003482.4(KMT2D):c.9041_9042del (p.Leu3014fs)
|
rs886043252
|
|
NM_003482.4(KMT2D):c.9265dup (p.Val3089fs)
|
rs1333678798
|
|
NM_003482.4(KMT2D):c.9937_9939delinsA (p.Leu3313fs)
|
rs1555190224
|
|
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs)
|
rs727503909
|
|
NM_003494.3(DYSF):c.3383dup (p.Met1128Ilefs)
|
rs1553370437
|
|
NM_003494.3(DYSF):c.3504dup (p.Lys1169Glnfs)
|
rs886042504
|
|
NM_003494.4(DYSF):c.1481-1G>A
|
rs398123770
|
|
NM_003494.4(DYSF):c.1642del
|
rs398123772
|
|
NM_003494.4(DYSF):c.1642dup
|
rs398123772
|
|
NM_003611.3(OFD1):c.111+2T>C
|
rs312262809
|
|
NM_003611.3(OFD1):c.1543-2A>C
|
rs398123809
|
|
NM_003611.3(OFD1):c.458_459dup (p.Lys154fs)
|
rs398123810
|
|
NM_003630.3(PEX3):c.331+2_331+5del
|
rs1562653663
|
|
NM_003630.3(PEX3):c.856C>T (p.Arg286Ter)
|
rs147556993
|
|
NM_003673.4(TCAP):c.103G>T (p.Glu35Ter)
|
rs779699520
|
|
NM_003722.5(TP63):c.1837_1841del (p.Pro613fs)
|
rs794727122
|
|
NM_003742.4(ABCB11):c.1069G>T (p.Gly357Ter)
|
rs886043935
|
|
NM_003742.4(ABCB11):c.1271del (p.Asn424fs)
|
rs886043703
|
|
NM_003742.4(ABCB11):c.1354_1427del (p.Ala452fs)
|
rs1574453486
|
|
NM_003742.4(ABCB11):c.150+1G>A
|
rs886043875
|
|
NM_003742.4(ABCB11):c.1631del (p.Leu544fs)
|
rs1553466489
|
|
NM_003742.4(ABCB11):c.167C>G (p.Ser56Ter)
|
rs11568361
|
|
NM_003742.4(ABCB11):c.1810-1G>A
|
rs1553466082
|
|
NM_003742.4(ABCB11):c.1948del (p.Tyr650fs)
|
rs1558894166
|
|
NM_003742.4(ABCB11):c.1966_1967del (p.Leu656fs)
|
rs1064797270
|
|
NM_003742.4(ABCB11):c.2842C>T (p.Arg948Cys)
|
rs1559183717
|
|
NM_003742.4(ABCB11):c.2944G>A (p.Gly982Arg)
|
rs72549399
|
|
NM_003742.4(ABCB11):c.2950del (p.Cys984fs)
|
rs1559183490
|
|
NM_003742.4(ABCB11):c.379del (p.Thr127fs)
|
rs1558927163
|
|
NM_003742.4(ABCB11):c.390-1G>T
|
rs1558917090
|
|
NM_003742.4(ABCB11):c.409G>T (p.Glu137Ter)
|
rs1026511416
|
|
NM_003742.4(ABCB11):c.847G>T (p.Glu283Ter)
|
rs1558912774
|
|
NM_003865.3(HESX1):c.511_512del (p.Gln171fs)
|
rs752434998
|
|
NM_003919.3(SGCE):c.709C>T (p.Arg237Ter)
|
rs398123812
|
|
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn)
|
rs28931594
|
|
NM_004004.6(GJB2):c.176_191del (p.Gly59fs)
|
rs750188782
|
|
NM_004004.6(GJB2):c.235del (p.Leu79fs)
|
rs80338943
|
|
NM_004004.6(GJB2):c.250G>T (p.Val84Leu)
|
rs104894409
|
|
NM_004004.6(GJB2):c.313_326del (p.Lys105fs)
|
rs111033253
|
|
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)
|
rs1801002
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.35dup (p.Val13fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)
|
rs104894401
|
|
NM_004004.6(GJB2):c.465T>A (p.Tyr155Ter)
|
rs772264564
|
|
NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer)
|
rs111033335
|
|
NM_004004.6(GJB2):c.632_633del (p.Cys211fs)
|
rs587783646
|
|
NM_004004.6(GJB2):c.647_650del (p.Arg216fs)
|
rs587783647
|
|
NM_004006.2(DMD):c.10453dup (p.Leu3485Profs)
|
rs886043375
|
|
NM_004006.3(DMD):c.10033C>T (p.Arg3345Ter)
|
rs398123827
|
|
NM_004006.3(DMD):c.10062T>A (p.Tyr3354Ter)
|
rs886042875
|
|
NM_004006.3(DMD):c.10086+1G>A
|
rs398123828
|
|
NM_004006.3(DMD):c.10086+1G>T
|
rs398123828
|
|
NM_004006.3(DMD):c.10087-2A>G
|
rs1569420861
|
|
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del)
|
rs886042840
|
|
NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter)
|
rs104894787
|
|
NM_004006.3(DMD):c.10126del (p.Val3375_Leu3376insTer)
|
rs886043676
|
|
NM_004006.3(DMD):c.1012G>T (p.Glu338Ter)
|
rs398123830
|
|
NM_004006.3(DMD):c.10141C>T (p.Arg3381Ter)
|
rs104894790
|
|
NM_004006.3(DMD):c.10150del (p.Arg3384fs)
|
rs886039663
|
|
NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter)
|
rs398123832
|
|
NM_004006.3(DMD):c.10223+1G>A
|
rs398123834
|
|
NM_004006.3(DMD):c.10258dup (p.Ser3420fs)
|
rs398123835
|
|
NM_004006.3(DMD):c.10279C>T (p.Gln3427Ter)
|
rs886042691
|
|
NM_004006.3(DMD):c.10361del (p.Tyr3454fs)
|
rs886043084
|
|
NM_004006.3(DMD):c.10447_10448del (p.Ser3483fs)
|
rs398123837
|
|
NM_004006.3(DMD):c.10453del (p.Pro3484_Leu3485insTer)
|
rs886043375
|
|
NM_004006.3(DMD):c.10454del (p.Leu3485fs)
|
rs398123839
|
|
NM_004006.3(DMD):c.10477C>T (p.Gln3493Ter)
|
rs886042495
|
|
NM_004006.3(DMD):c.1047dup (p.Glu350fs)
|
rs1556876421
|
|
NM_004006.3(DMD):c.1048G>T (p.Glu350Ter)
|
rs398123840
|
|
NM_004006.3(DMD):c.10504del (p.Glu3502fs)
|
rs1556024147
|
|
NM_004006.3(DMD):c.10519G>T (p.Glu3507Ter)
|
rs1556024095
|
|
NM_004006.3(DMD):c.10554-2A>G
|
rs794727890
|
|
NM_004006.3(DMD):c.10572T>A (p.Tyr3524Ter)
|
rs886043817
|
|
NM_004006.3(DMD):c.10625del (p.Pro3542fs)
|
rs398123844
|
|
NM_004006.3(DMD):c.1062G>A (p.Trp354Ter)
|
rs1569376447
|
|
NM_004006.3(DMD):c.10650_10651dup (p.Gln3551fs)
|
rs886044325
|
|
NM_004006.3(DMD):c.1070del (p.Ser357fs)
|
rs794726994
|
|
NM_004006.3(DMD):c.10797+5G>A
|
rs398123846
|
|
NM_004006.3(DMD):c.1093C>T (p.Gln365Ter)
|
rs794726993
|
|
NM_004006.3(DMD):c.1128dup (p.Asp377fs)
|
rs886044624
|
|
NM_004006.3(DMD):c.1150-1G>A
|
rs886043251
|
|
NM_004006.3(DMD):c.1150-2A>G
|
rs794727030
|
|
NM_004006.3(DMD):c.1255G>T (p.Glu419Ter)
|
rs1220963408
|
|
NM_004006.3(DMD):c.1261C>T (p.Gln421Ter)
|
rs398123852
|
|
NM_004006.3(DMD):c.1286C>A (p.Ser429Ter)
|
rs398123853
|
|
NM_004006.3(DMD):c.1286C>G (p.Ser429Ter)
|
rs398123853
|
|
NM_004006.3(DMD):c.1306dup (p.Val436fs)
|
rs398123854
|
|
NM_004006.3(DMD):c.1332-9A>G
|
rs72468700
|
|
NM_004006.3(DMD):c.133C>T (p.Gln45Ter)
|
rs794727499
|
|
NM_004006.3(DMD):c.1341_1342dup (p.Val448fs)
|
rs398123856
|
|
NM_004006.3(DMD):c.1371del (p.Glu459fs)
|
rs398123857
|
|
NM_004006.3(DMD):c.137_138dup (p.Gly47fs)
|
rs398123859
|
|
NM_004006.3(DMD):c.1387_1408del (p.Trp463fs)
|
rs886042616
|
|
NM_004006.3(DMD):c.1417A>T (p.Lys473Ter)
|
rs886042499
|
|
NM_004006.3(DMD):c.1465C>T (p.Gln489Ter)
|
rs398123861
|
|
NM_004006.3(DMD):c.1482+1G>C
|
rs398123862
|
|
NM_004006.3(DMD):c.1482+1G>T
|
rs398123862
|
|
NM_004006.3(DMD):c.14_15delinsT (p.Glu5fs)
|
rs796065325
|
|
NM_004006.3(DMD):c.1529_1530del (p.Leu510fs)
|
rs398123863
|
|
NM_004006.3(DMD):c.1530dup (p.Thr511fs)
|
rs886043376
|
|
NM_004006.3(DMD):c.1533_1534dup (p.His512fs)
|
rs886044440
|
|
NM_004006.3(DMD):c.1533_1536del (p.His512fs)
|
rs794727097
|
|
NM_004006.3(DMD):c.1594C>T (p.Gln532Ter)
|
rs763936813
|
|
NM_004006.3(DMD):c.1602+1G>T
|
rs1057517960
|
|
NM_004006.3(DMD):c.1603-2A>C
|
rs773779441
|
|
NM_004006.3(DMD):c.1615C>T (p.Arg539Ter)
|
rs398123865
|
|
NM_004006.3(DMD):c.1620G>A (p.Trp540Ter)
|
rs1569230389
|
|
NM_004006.3(DMD):c.1652G>A (p.Trp551Ter)
|
rs1569230215
|
|
NM_004006.3(DMD):c.1659_1660insGTAA (p.Leu554fs)
|
rs1556810362
|
|
NM_004006.3(DMD):c.1663C>T (p.Gln555Ter)
|
rs863224983
|
|
NM_004006.3(DMD):c.1704+1G>A
|
rs794727123
|
|
NM_004006.3(DMD):c.175_179dup (p.Lys61fs)
|
rs886043288
|
|
NM_004006.3(DMD):c.1769_1772dup (p.Lys591delinsAsnTer)
|
rs1601808412
|
|
NM_004006.3(DMD):c.1812+2T>A
|
rs1556809625
|
|
NM_004006.3(DMD):c.186+2T>A
|
rs886043822
|
|
NM_004006.3(DMD):c.1886C>A (p.Ser629Ter)
|
rs398123867
|
|
NM_004006.3(DMD):c.1912C>T (p.Gln638Ter)
|
rs794727170
|
|
NM_004006.3(DMD):c.1956del (p.Asp652fs)
|
rs886043640
|
|
NM_004006.3(DMD):c.1978_1979del (p.Lys660fs)
|
rs1569213903
|
|
NM_004006.3(DMD):c.1990C>T (p.Gln664Ter)
|
rs398123870
|
|
NM_004006.3(DMD):c.2032C>T (p.Gln678Ter)
|
rs398123872
|
|
NM_004006.3(DMD):c.2052_2053del (p.Val685fs)
|
rs886043699
|
|
NM_004006.3(DMD):c.2125del (p.Gln709fs)
|
rs398123875
|
|
NM_004006.3(DMD):c.2129del (p.Lys710fs)
|
rs1569169560
|
|
NM_004006.3(DMD):c.2132del (p.Lys711fs)
|
rs1556780579
|
|
NM_004006.3(DMD):c.2168+2T>G
|
rs886042618
|
|
NM_004006.3(DMD):c.2195dup (p.His732fs)
|
rs1569565192
|
|
NM_004006.3(DMD):c.2281_2285del (p.Glu761fs)
|
rs398123881
|
|
NM_004006.3(DMD):c.2294_2297del (p.Ala765fs)
|
rs398123882
|
|
NM_004006.3(DMD):c.2302C>T (p.Arg768Ter)
|
rs201366610
|
|
NM_004006.3(DMD):c.2316_2317del (p.Lys773fs)
|
rs886042437
|
|
NM_004006.3(DMD):c.2332C>T (p.Gln778Ter)
|
rs398123883
|
|
NM_004006.3(DMD):c.2380+1G>C
|
rs398123884
|
|
NM_004006.3(DMD):c.2381-1G>T
|
rs398123887
|
|
NM_004006.3(DMD):c.2416G>T (p.Glu806Ter)
|
rs1557383761
|
|
NM_004006.3(DMD):c.2419C>T (p.Gln807Ter)
|
rs398123888
|
|
NM_004006.3(DMD):c.2479G>T (p.Glu827Ter)
|
rs794727323
|
|
NM_004006.3(DMD):c.2484T>G (p.Tyr828Ter)
|
rs727503858
|
|
NM_004006.3(DMD):c.2512C>T (p.Gln838Ter)
|
rs886042351
|
|
NM_004006.3(DMD):c.2547del (p.Glu850fs)
|
rs398123895
|
|
NM_004006.3(DMD):c.2556G>A (p.Trp852Ter)
|
rs1429329309
|
|
NM_004006.3(DMD):c.2601_2602del (p.Gln869fs)
|
rs794727322
|
|
NM_004006.3(DMD):c.2603del (p.Ser868fs)
|
rs886042348
|
|
NM_004006.3(DMD):c.2622+1G>A
|
rs398123901
|
|
NM_004006.3(DMD):c.2623-3C>G
|
rs863224988
|
|
NM_004006.3(DMD):c.264+1G>A
|
rs1569533147
|
|
NM_004006.3(DMD):c.2650C>T (p.Gln884Ter)
|
rs398123903
|
|
NM_004006.3(DMD):c.2755A>T (p.Lys919Ter)
|
rs727503850
|
|
NM_004006.3(DMD):c.2797C>T (p.Gln933Ter)
|
rs756949497
|
|
NM_004006.3(DMD):c.2803+1G>C
|
rs398123908
|
|
NM_004006.3(DMD):c.2804-1G>A
|
rs398123909
|
|
NM_004006.3(DMD):c.2804-1G>T
|
rs398123909
|
|
NM_004006.3(DMD):c.2804-2A>T
|
rs794727357
|
|
NM_004006.3(DMD):c.2815_2816del (p.Leu939fs)
|
rs794727358
|
|
NM_004006.3(DMD):c.2816T>A (p.Leu939Ter)
|
rs398123910
|
|
NM_004006.3(DMD):c.283G>T (p.Gly95Ter)
|
rs1557058415
|
|
NM_004006.3(DMD):c.2861G>A (p.Trp954Ter)
|
rs886043909
|
|
NM_004006.3(DMD):c.28del (p.Cys10fs)
|
rs398123913
|
|
NM_004006.3(DMD):c.2914del (p.Tyr972fs)
|
rs1569564281
|
|
NM_004006.3(DMD):c.291dup (p.Asp98Ter)
|
rs797044756
|
|
NM_004006.3(DMD):c.2933_2934del (p.Arg978fs)
|
rs794727359
|
|
NM_004006.3(DMD):c.2950-2A>T
|
rs398123915
|
|
NM_004006.3(DMD):c.2956C>T (p.Gln986Ter)
|
rs727503844
|
|
NM_004006.3(DMD):c.2968C>T (p.Gln990Ter)
|
rs1233380601
|
|
NM_004006.3(DMD):c.31+1G>T
|
rs398123923
|
|
NM_004006.3(DMD):c.31+36947G>A
|
rs886042106
|
|
NM_004006.3(DMD):c.3121C>T (p.Gln1041Ter)
|
rs128626245
|
|
NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter)
|
rs398123929
|
|
NM_004006.3(DMD):c.319dup (p.Thr107fs)
|
rs1557058353
|
|
NM_004006.3(DMD):c.3220G>T (p.Glu1074Ter)
|
rs1569563751
|
|
NM_004006.3(DMD):c.3238del (p.Asp1080fs)
|
rs886043052
|
|
NM_004006.3(DMD):c.3257dup (p.Gln1087fs)
|
rs1569563740
|
|
NM_004006.3(DMD):c.3276+1G>A
|
rs398123934
|
|
NM_004006.3(DMD):c.3276+2del
|
rs1557369964
|
|
NM_004006.3(DMD):c.3295C>T (p.Gln1099Ter)
|
rs398123935
|
|
NM_004006.3(DMD):c.3309_3313del (p.Ser1104fs)
|
rs1557369493
|
|
NM_004006.3(DMD):c.3365_3366del (p.Glu1122fs)
|
rs1057518284
|
|
NM_004006.3(DMD):c.336G>A (p.Trp112Ter)
|
rs398123936
|
|
NM_004006.3(DMD):c.3374C>A (p.Ser1125Ter)
|
rs374744331
|
|
NM_004006.3(DMD):c.3413G>A (p.Trp1138Ter)
|
rs886044406
|
|
NM_004006.3(DMD):c.3432+1G>A
|
rs398123937
|
|
NM_004006.3(DMD):c.3432+3A>G
|
rs398123938
|
|
NM_004006.3(DMD):c.3433-2_3433-1delinsCC
|
rs1557365503
|
|
NM_004006.3(DMD):c.3497_3500del (p.Leu1166fs)
|
rs794727421
|
|
NM_004006.3(DMD):c.3500C>G (p.Ser1167Ter)
|
rs1569563278
|
|
NM_004006.3(DMD):c.3532G>T (p.Glu1178Ter)
|
rs727503836
|
|
NM_004006.3(DMD):c.3535G>T (p.Glu1179Ter)
|
rs794727422
|
|
NM_004006.3(DMD):c.355C>T (p.Gln119Ter)
|
rs863224995
|
|
NM_004006.3(DMD):c.358-1G>A
|
rs886044582
|
|
NM_004006.3(DMD):c.3580C>T (p.Gln1194Ter)
|
rs398123942
|
|
NM_004006.3(DMD):c.3603+1G>T
|
rs1209389771
|
|
NM_004006.3(DMD):c.3603+2T>A
|
rs146071084
|
|
NM_004006.3(DMD):c.3603+2dup
|
rs796523999
|
|
NM_004006.3(DMD):c.3639dup (p.Val1214fs)
|
rs398123943
|
|
NM_004006.3(DMD):c.365del (p.Asn122fs)
|
rs1557052797
|
|
NM_004006.3(DMD):c.3747G>A (p.Trp1249Ter)
|
rs886043635
|
|
NM_004006.3(DMD):c.3747del (p.Trp1249fs)
|
rs398123945
|
|
NM_004006.3(DMD):c.3779_3785delinsGG (p.Thr1260fs)
|
rs398123946
|
|
NM_004006.3(DMD):c.3838A>T (p.Lys1280Ter)
|
rs794727463
|
|
NM_004006.3(DMD):c.3885del (p.Pro1296fs)
|
rs1557359155
|
|
NM_004006.3(DMD):c.3923C>A (p.Ser1308Ter)
|
rs1569562466
|
|
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter)
|
rs5030730
|
|
NM_004006.3(DMD):c.4071+1G>A
|
rs1060502643
|
|
NM_004006.3(DMD):c.4117C>T (p.Gln1373Ter)
|
rs398123948
|
|
NM_004006.3(DMD):c.4120G>T (p.Glu1374Ter)
|
rs1557340452
|
|
NM_004006.3(DMD):c.412_413del (p.Lys138fs)
|
rs398123949
|
|
NM_004006.3(DMD):c.4151del (p.Glu1384fs)
|
rs1569561687
|
|
NM_004006.3(DMD):c.415_428del (p.Ile139fs)
|
rs794727795
|
|
NM_004006.3(DMD):c.4174C>T (p.Gln1392Ter)
|
rs886043496
|
|
NM_004006.3(DMD):c.4290_4291del (p.His1430fs)
|
rs1557322838
|
|
NM_004006.3(DMD):c.4295del (p.Gln1432fs)
|
rs1557322834
|
|
NM_004006.3(DMD):c.4312C>T (p.Gln1438Ter)
|
rs886044402
|
|
NM_004006.3(DMD):c.4315A>T (p.Arg1439Ter)
|
rs794727550
|
|
NM_004006.3(DMD):c.433C>T (p.Arg145Ter)
|
rs128626235
|
|
NM_004006.3(DMD):c.434G>C (p.Arg145Pro)
|
rs398123952
|
|
NM_004006.3(DMD):c.4375C>T (p.Arg1459Ter)
|
rs398123953
|
|
NM_004006.3(DMD):c.4405C>T (p.Gln1469Ter)
|
rs398123954
|
|
NM_004006.3(DMD):c.4414C>T (p.Gln1472Ter)
|
rs128626248
|
|
NM_004006.3(DMD):c.4471_4472del (p.Lys1491fs)
|
rs398123957
|
|
NM_004006.3(DMD):c.4483C>T (p.Gln1495Ter)
|
rs748769566
|
|
NM_004006.3(DMD):c.4495C>T (p.Gln1499Ter)
|
rs755686224
|
|
NM_004006.3(DMD):c.4518+5G>A
|
rs398123960
|
|
NM_004006.3(DMD):c.4523del (p.Leu1508fs)
|
rs794727567
|
|
NM_004006.3(DMD):c.4534_4535del (p.Leu1512fs)
|
rs398123961
|
|
NM_004006.3(DMD):c.4545_4549del (p.Val1515_Lys1516insTer)
|
rs398123962
|
|
NM_004006.3(DMD):c.4550_4556del (p.Ser1517fs)
|
rs886043348
|
|
NM_004006.3(DMD):c.457C>T (p.Gln153Ter)
|
rs886042983
|
|
NM_004006.3(DMD):c.4591C>T (p.Gln1531Ter)
|
rs1557320194
|
|
NM_004006.3(DMD):c.4606G>T (p.Glu1536Ter)
|
rs863224998
|
|
NM_004006.3(DMD):c.4618G>T (p.Glu1540Ter)
|
rs1557320151
|
|
NM_004006.3(DMD):c.4675-2A>G
|
rs794727575
|
|
NM_004006.3(DMD):c.4729C>T (p.Arg1577Ter)
|
rs863224999
|
|
NM_004006.3(DMD):c.4786_4787del (p.Lys1596fs)
|
rs1569560475
|
|
NM_004006.3(DMD):c.478_479insAC (p.Thr160fs)
|
rs1557052560
|
|
NM_004006.3(DMD):c.4806A>T (p.Gly1602=)
|
rs727503830
|
|
NM_004006.3(DMD):c.4843A>T (p.Lys1615Ter)
|
rs398123969
|
|
NM_004006.3(DMD):c.4845+1G>T
|
rs886044501
|
|
NM_004006.3(DMD):c.4870C>T (p.Gln1624Ter)
|
rs762250680
|
|
NM_004006.3(DMD):c.4996C>T (p.Arg1666Ter)
|
rs398123973
|
|
NM_004006.3(DMD):c.5032C>T (p.Gln1678Ter)
|
rs886042154
|
|
NM_004006.3(DMD):c.5089C>T (p.Gln1697Ter)
|
rs886042347
|
|
NM_004006.3(DMD):c.5097_5098delinsATGAATGAATTCATT (p.Asp1699_Thr1700delinsGluTer)
|
rs398123978
|
|
NM_004006.3(DMD):c.5124_5127del (p.Lys1708fs)
|
rs398123979
|
|
NM_004006.3(DMD):c.5139del (p.Glu1714fs)
|
rs1557304860
|
|
NM_004006.3(DMD):c.5140G>T (p.Glu1714Ter)
|
rs886042747
|
|
NM_004006.3(DMD):c.522_523del (p.His174fs)
|
rs1569528090
|
|
NM_004006.3(DMD):c.5287C>T (p.Arg1763Ter)
|
rs398123981
|
|
NM_004006.3(DMD):c.5334del (p.Pro1779fs)
|
rs1557294341
|
|
NM_004006.3(DMD):c.5344G>T (p.Glu1782Ter)
|
rs886044455
|
|
NM_004006.3(DMD):c.5353C>T (p.Gln1785Ter)
|
rs398123990
|
|
NM_004006.3(DMD):c.5360dup (p.Asn1787fs)
|
rs1557294296
|
|
NM_004006.3(DMD):c.5363C>G (p.Ser1788Ter)
|
rs199774535
|
|
NM_004006.3(DMD):c.5371C>T (p.Gln1791Ter)
|
rs1569559204
|
|
NM_004006.3(DMD):c.5390_5411del (p.Leu1797fs)
|
rs1569559198
|
|
NM_004006.3(DMD):c.5407C>T (p.Gln1803Ter)
|
rs1557294228
|
|
NM_004006.3(DMD):c.5455_5459dup (p.Asn1820fs)
|
rs1569559110
|
|
NM_004006.3(DMD):c.547dup (p.Trp183fs)
|
rs796065333
|
|
NM_004006.3(DMD):c.5530C>T (p.Arg1844Ter)
|
rs1064325
|
|
NM_004006.3(DMD):c.5548_5552del (p.Lys1850fs)
|
rs1557292678
|
|
NM_004006.3(DMD):c.5554C>T (p.Gln1852Ter)
|
rs398123991
|
|
NM_004006.3(DMD):c.5563C>T (p.Gln1855Ter)
|
rs1569559097
|
|
NM_004006.3(DMD):c.5595del (p.Arg1865fs)
|
rs1557291242
|
|
NM_004006.3(DMD):c.5602_5605del (p.Arg1868fs)
|
rs863225003
|
|
NM_004006.3(DMD):c.5640T>A (p.Tyr1880Ter)
|
rs398123993
|
|
NM_004006.3(DMD):c.565C>T (p.Gln189Ter)
|
rs794727861
|
|
NM_004006.3(DMD):c.5680del (p.Asp1894fs)
|
rs1569558964
|
|
NM_004006.3(DMD):c.5697del (p.Lys1899fs)
|
rs794727661
|
|
NM_004006.3(DMD):c.5697dup (p.Leu1900fs)
|
rs794727661
|
|
NM_004006.3(DMD):c.5713G>T (p.Glu1905Ter)
|
rs1557291003
|
|
NM_004006.3(DMD):c.5729_5733del (p.Arg1910fs)
|
rs1569558953
|
|
NM_004006.3(DMD):c.572C>G (p.Ser191Ter)
|
rs794727863
|
|
NM_004006.3(DMD):c.5800G>T (p.Glu1934Ter)
|
rs1557290355
|
|
NM_004006.3(DMD):c.583C>T (p.Arg195Ter)
|
rs398123999
|
|
NM_004006.3(DMD):c.5867G>A (p.Trp1956Ter)
|
rs1569558906
|
|
NM_004006.3(DMD):c.5868G>A (p.Trp1956Ter)
|
rs794727666
|
|
NM_004006.3(DMD):c.5881_5882del (p.Ser1961fs)
|
rs886044193
|
|
NM_004006.3(DMD):c.5910del (p.Phe1971fs)
|
rs1557290181
|
|
NM_004006.3(DMD):c.5917C>T (p.Gln1973Ter)
|
rs863225005
|
|
NM_004006.3(DMD):c.5938G>T (p.Glu1980Ter)
|
rs398124001
|
|
NM_004006.3(DMD):c.595_598dup (p.Phe200fs)
|
rs1557047875
|
|
NM_004006.3(DMD):c.5972del (p.Leu1991fs)
|
rs1569556948
|
|
NM_004006.3(DMD):c.6000T>A (p.Tyr2000Ter)
|
rs398124002
|
|
NM_004006.3(DMD):c.6025C>T (p.Gln2009Ter)
|
rs1569556943
|
|
NM_004006.3(DMD):c.6025_6026del (p.Gln2009fs)
|
rs1557272125
|
|
NM_004006.3(DMD):c.6072T>A (p.Cys2024Ter)
|
rs373804251
|
|
NM_004006.3(DMD):c.615T>A (p.Tyr205Ter)
|
rs398124004
|
|
NM_004006.3(DMD):c.6182del (p.Ala2061fs)
|
rs398124005
|
|
NM_004006.3(DMD):c.6223C>T (p.Gln2075Ter)
|
rs886043428
|
|
NM_004006.3(DMD):c.6238del (p.Gln2080fs)
|
rs794727672
|
|
NM_004006.3(DMD):c.627del (p.Ile209fs)
|
rs794727862
|
|
NM_004006.3(DMD):c.6373C>T (p.Gln2125Ter)
|
rs128626251
|
|
NM_004006.3(DMD):c.6391_6392del (p.Gln2131fs)
|
rs398124012
|
|
NM_004006.3(DMD):c.6391_6392dup (p.Gln2131fs)
|
rs398124012
|
|
NM_004006.3(DMD):c.6393_6394insCA (p.Ile2132fs)
|
rs886043157
|
|
NM_004006.3(DMD):c.6423C>A (p.Tyr2141Ter)
|
rs1425702864
|
|
NM_004006.3(DMD):c.6423del (p.Lys2140_Tyr2141insTer)
|
rs1557218093
|
|
NM_004006.3(DMD):c.6472_6473del (p.Val2158fs)
|
rs1557038198
|
|
NM_004006.3(DMD):c.649+1G>A
|
rs398124032
|
|
NM_004006.3(DMD):c.649+1G>T
|
rs398124032
|
|
NM_004006.3(DMD):c.649+5G>T
|
rs1557047808
|
|
NM_004006.3(DMD):c.6544C>T (p.Gln2182Ter)
|
rs1557038061
|
|
NM_004006.3(DMD):c.6580G>T (p.Glu2194Ter)
|
rs1304218104
|
|
NM_004006.3(DMD):c.6611dup (p.Arg2205fs)
|
rs863225007
|
|
NM_004006.3(DMD):c.6649C>T (p.Gln2217Ter)
|
rs1569516166
|
|
NM_004006.3(DMD):c.6651_6652del (p.Asp2219fs)
|
rs1557011929
|
|
NM_004006.3(DMD):c.6665_6668del (p.Glu2222fs)
|
rs1557011872
|
|
NM_004006.3(DMD):c.6670_6673dup (p.Leu2225fs)
|
rs797044743
|
|
NM_004006.3(DMD):c.673AAG[1] (p.Lys226del)
|
rs398124034
|
|
NM_004006.3(DMD):c.6804_6807del (p.Lys2268fs)
|
rs886044490
|
|
NM_004006.3(DMD):c.6906G>A (p.Trp2302Ter)
|
rs398124036
|
|
NM_004006.3(DMD):c.6982A>T (p.Lys2328Ter)
|
rs754896795
|
|
NM_004006.3(DMD):c.6986del (p.Lys2329fs)
|
rs398124040
|
|
NM_004006.3(DMD):c.7052_7053del (p.Gln2350_Leu2351insTer)
|
rs1556962326
|
|
NM_004006.3(DMD):c.7105G>T (p.Glu2369Ter)
|
rs863225008
|
|
NM_004006.3(DMD):c.7159C>T (p.Gln2387Ter)
|
rs1556930579
|
|
NM_004006.3(DMD):c.7170C>G (p.Tyr2390Ter)
|
rs770183212
|
|
NM_004006.3(DMD):c.7189C>T (p.Gln2397Ter)
|
rs398124042
|
|
NM_004006.3(DMD):c.7247dup (p.Leu2416fs)
|
rs797044764
|
|
NM_004006.3(DMD):c.7252C>T (p.Gln2418Ter)
|
rs1569451994
|
|
NM_004006.3(DMD):c.7268del (p.Lys2423fs)
|
rs1556917057
|
|
NM_004006.3(DMD):c.7295_7296del (p.Thr2432fs)
|
rs794727746
|
|
NM_004006.3(DMD):c.7309+1G>A
|
rs398124044
|
|
NM_004006.3(DMD):c.7444del (p.Thr2483fs)
|
rs794727749
|
|
NM_004006.3(DMD):c.7657C>T (p.Arg2553Ter)
|
rs398124050
|
|
NM_004006.3(DMD):c.7661-1G>C
|
rs1556806346
|
|
NM_004006.3(DMD):c.7682G>A (p.Trp2561Ter)
|
rs398124052
|
|
NM_004006.3(DMD):c.7683G>A (p.Trp2561Ter)
|
rs398124053
|
|
NM_004006.3(DMD):c.776_777del (p.Lys259fs)
|
rs1569469138
|
|
NM_004006.3(DMD):c.7771G>T (p.Glu2591Ter)
|
rs398124055
|
|
NM_004006.3(DMD):c.7894C>T (p.Gln2632Ter)
|
rs398124058
|
|
NM_004006.3(DMD):c.7922del (p.Asn2641fs)
|
rs398124059
|
|
NM_004006.3(DMD):c.8010G>A (p.Trp2670Ter)
|
rs1569186252
|
|
NM_004006.3(DMD):c.8038C>T (p.Arg2680Ter)
|
rs863225011
|
|
NM_004006.3(DMD):c.8061del (p.His2688fs)
|
rs1569140330
|
|
NM_004006.3(DMD):c.8064_8065del (p.His2688fs)
|
rs398124060
|
|
NM_004006.3(DMD):c.8066_8070del (p.Arg2689fs)
|
rs1556764934
|
|
NM_004006.3(DMD):c.8069T>G (p.Leu2690Ter)
|
rs398124061
|
|
NM_004006.3(DMD):c.8105_8111dup (p.Trp2704fs)
|
rs886042373
|
|
NM_004006.3(DMD):c.8184del (p.Lys2729fs)
|
rs794727763
|
|
NM_004006.3(DMD):c.8263del (p.Leu2755fs)
|
rs1556669914
|
|
NM_004006.3(DMD):c.831+1G>T
|
rs1239018406
|
|
NM_004006.3(DMD):c.8374_8375del (p.Lys2792fs)
|
rs398124070
|
|
NM_004006.3(DMD):c.8390+1G>A
|
rs1064794569
|
|
NM_004006.3(DMD):c.8390+1G>C
|
rs1064794569
|
|
NM_004006.3(DMD):c.8608C>T (p.Arg2870Ter)
|
rs398124074
|
|
NM_004006.3(DMD):c.8647A>T (p.Lys2883Ter)
|
rs1556656767
|
|
NM_004006.3(DMD):c.8652_8653del (p.Tyr2885fs)
|
rs398124075
|
|
NM_004006.3(DMD):c.8656C>T (p.Gln2886Ter)
|
rs201361100
|
|
NM_004006.3(DMD):c.8669-1G>C
|
rs886044324
|
|
NM_004006.3(DMD):c.8669-2A>C
|
rs794727770
|
|
NM_004006.3(DMD):c.8680G>T (p.Glu2894Ter)
|
rs727503802
|
|
NM_004006.3(DMD):c.8713C>T (p.Arg2905Ter)
|
rs128627256
|
|
NM_004006.3(DMD):c.8775G>A (p.Trp2925Ter)
|
rs868688877
|
|
NM_004006.3(DMD):c.883C>T (p.Arg295Ter)
|
rs727503864
|
|
NM_004006.3(DMD):c.8880G>A (p.Trp2960Ter)
|
rs1556656184
|
|
NM_004006.3(DMD):c.8912_8913del (p.Leu2971fs)
|
rs398124078
|
|
NM_004006.3(DMD):c.8937+1G>T
|
rs1556656077
|
|
NM_004006.3(DMD):c.8944C>T (p.Arg2982Ter)
|
rs128625229
|
|
NM_004006.3(DMD):c.9100C>T (p.Arg3034Ter)
|
rs1569530432
|
|
NM_004006.3(DMD):c.9125del (p.His3042fs)
|
rs398124080
|
|
NM_004006.3(DMD):c.9158_9161del (p.Leu3053fs)
|
rs398124081
|
|
NM_004006.3(DMD):c.9164-1G>C
|
rs398124082
|
|
NM_004006.3(DMD):c.9216C>G (p.Tyr3072Ter)
|
rs794727820
|
|
NM_004006.3(DMD):c.9225-285A>G
|
rs587776747
|
|
NM_004006.3(DMD):c.9225-647A>G
|
rs398124091
|
|
NM_004006.3(DMD):c.93+1G>A
|
rs886042604
|
|
NM_004006.3(DMD):c.93+1_93+5del
|
rs886044495
|
|
NM_004006.3(DMD):c.9337C>T (p.Arg3113Ter)
|
rs398124092
|
|
NM_004006.3(DMD):c.9361+1G>A
|
rs398124094
|
|
NM_004006.3(DMD):c.9361+1G>C
|
rs398124094
|
|
NM_004006.3(DMD):c.9563+1G>A
|
rs886043989
|
|
NM_004006.3(DMD):c.9564-1G>A
|
rs398124096
|
|
NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter)
|
rs104894797
|
|
NM_004006.3(DMD):c.961-5831C>T
|
rs398124099
|
|
NM_004006.3(DMD):c.9650-2A>G
|
rs398124100
|
|
NM_004006.3(DMD):c.9727C>T (p.Gln3243Ter)
|
rs1569460722
|
|
NM_004006.3(DMD):c.9767dup (p.Ser3257fs)
|
rs398124103
|
|
NM_004006.3(DMD):c.9807+1G>T
|
rs1569460610
|
|
NM_004006.3(DMD):c.9862G>T (p.Glu3288Ter)
|
rs398124106
|
|
NM_004006.3(DMD):c.9975-2A>C
|
rs886044502
|
|
NM_004006.3(DMD):c.9978C>G (p.Tyr3326Ter)
|
rs794727832
|
|
NM_004006.3(DMD):c.9G>A (p.Trp3Ter)
|
rs398122853
|
|
NM_004130.4(GYG1):c.487del (p.Asp163fs)
|
rs727502871
|
|
NM_004183.4(BEST1):c.728C>T (p.Ala243Val)
|
rs28940570
|
|
NM_004187.5(KDM5C):c.3126_3128delinsCAGG (p.Asp1043fs)
|
rs797044682
|
|
NM_004187.5(KDM5C):c.351+1G>T
|
rs797044706
|
|
NM_004187.5(KDM5C):c.410_411dup (p.Ala138Ter)
|
rs1057515581
|
|
NM_004187.5(KDM5C):c.486T>A (p.Tyr162Ter)
|
rs797044731
|
|
NM_004260.4(RECQL4):c.1568del (p.Ser523fs)
|
rs886043102
|
|
NM_004260.4(RECQL4):c.1704+1G>A
|
rs760363252
|
|
NM_004260.4(RECQL4):c.2752G>T (p.Glu918Ter)
|
rs762028333
|
|
NM_004260.4(RECQL4):c.3025C>T (p.Gln1009Ter)
|
rs1564790457
|
|
NM_004260.4(RECQL4):c.82C>T (p.Gln28Ter)
|
rs794726912
|
|
NM_004320.6(ATP2A1):c.2595del (p.Asn866fs)
|
rs398124554
|
|
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)
|
rs121913355
|
|
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys)
|
rs180177038
|
|
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val)
|
rs397507483
|
|
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)
|
rs113488022
|
|
NM_004333.6(BRAF):c.1801A>C (p.Lys601Gln)
|
rs121913364
|
|
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)
|
rs180177035
|
|
NM_004369.4(COL6A3):c.2985_2988del (p.Ala996fs)
|
rs1559253935
|
|
NM_004369.4(COL6A3):c.4124del (p.Gln1375fs)
|
rs886042447
|
|
NM_004369.4(COL6A3):c.4835C>A (p.Ser1612Ter)
|
rs201532239
|
|
NM_004369.4(COL6A3):c.5010T>A (p.Tyr1670Ter)
|
rs886042402
|
|
NM_004369.4(COL6A3):c.5838+1G>T
|
rs1559234260
|
|
NM_004369.4(COL6A3):c.6064-2A>G
|
rs1553554384
|
|
NM_004369.4(COL6A3):c.6157-2A>C
|
rs886041434
|
|
NM_004369.4(COL6A3):c.6157G>T (p.Gly2053Cys)
|
rs1559228507
|
|
NM_004369.4(COL6A3):c.6175G>T (p.Gly2059Cys)
|
rs758124326
|
|
NM_004369.4(COL6A3):c.6210+1G>A
|
rs398124126
|
|
NM_004369.4(COL6A3):c.6220G>A (p.Gly2074Ser)
|
rs886044252
|
|
NM_004369.4(COL6A3):c.6230G>A (p.Gly2077Asp)
|
rs1553553646
|
|
NM_004369.4(COL6A3):c.6239G>A (p.Gly2080Asp)
|
rs794727188
|
|
NM_004369.4(COL6A3):c.6282+1G>A
|
rs398124128
|
|
NM_004369.4(COL6A3):c.6293G>T (p.Gly2098Val)
|
rs794727206
|
|
NM_004369.4(COL6A3):c.6310-28_6325del
|
rs1553553267
|
|
NM_004369.4(COL6A3):c.6354+1G>A
|
rs886042883
|
|
NM_004369.4(COL6A3):c.6354+1G>T
|
rs886042883
|
|
NM_004369.4(COL6A3):c.7024C>T (p.Arg2342Ter)
|
rs886043113
|
|
NM_004369.4(COL6A3):c.7542del (p.Phe2515fs)
|
rs886043519
|
|
NM_004369.4(COL6A3):c.761del (p.Gly254fs)
|
rs780921503
|
|
NM_004369.4(COL6A3):c.7796_7797del (p.Phe2599fs)
|
rs886042623
|
|
NM_004369.4(COL6A3):c.9193C>T (p.Gln3065Ter)
|
rs886043992
|
|
NM_004380.3(CREBBP):c.1669del (p.Ala557fs)
|
rs398124139
|
|
NM_004380.3(CREBBP):c.2685del (p.Gln897fs)
|
rs794727124
|
|
NM_004380.3(CREBBP):c.3337C>T (p.Gln1113Ter)
|
rs398124144
|
|
NM_004380.3(CREBBP):c.3982+1G>A
|
rs398124145
|
|
NM_004380.3(CREBBP):c.3993del (p.Thr1332fs)
|
rs794727391
|
|
NM_004380.3(CREBBP):c.4509C>G (p.Tyr1503Ter)
|
rs1555473105
|
|
NM_004380.3(CREBBP):c.886dup (p.Gln296fs)
|
rs1567331357
|
|
NM_004380.3(CREBBP):c.910del (p.Val304fs)
|
rs398124150
|
|
NM_004387.4(NKX2-5):c.685_686dup (p.Cys230fs)
|
rs797044675
|
|
NM_004415.4(DSP):c.4009del (p.Glu1337fs)
|
rs794727381
|
|
NM_004453.4(ETFDH):c.1570_1571del (p.Leu524fs)
|
rs727503919
|
|
NM_004453.4(ETFDH):c.1823del (p.Gly608fs)
|
rs398124153
|
|
NM_004463.3(FGD1):c.1287T>G (p.Tyr429Ter)
|
rs398124155
|
|
NM_004463.3(FGD1):c.1468C>T (p.Gln490Ter)
|
rs398124156
|
|
NM_004463.3(FGD1):c.175C>T (p.Gln59Ter)
|
rs398124160
|
|
NM_004463.3(FGD1):c.2016-2A>G
|
rs794727099
|
|
NM_004463.3(FGD1):c.2112_2113insTT (p.Asn705fs)
|
rs398124161
|
|
NM_004463.3(FGD1):c.2135dup (p.Pro713fs)
|
rs398124162
|
|
NM_004463.3(FGD1):c.527dup (p.Leu177fs)
|
rs756586058
|
|
NM_004463.3(FGD1):c.577C>T (p.Arg193Ter)
|
rs1557189664
|
|
NM_004484.4(GPC3):c.1159C>T (p.Arg387Ter)
|
rs122453121
|
|
NM_004493.3(HSD17B10):c.677G>A (p.Arg226Gln)
|
rs1556894502
|
|
NM_004530.6(MMP2):c.1287del (p.Asn430fs)
|
rs794727916
|
|
NM_004530.6(MMP2):c.265del (p.Asp90fs)
|
rs794727275
|
|
NM_004530.6(MMP2):c.732C>A (p.Tyr244Ter)
|
rs121912954
|
|
NM_004560.4(ROR2):c.2130_2151dup (p.Pro718delinsAlaAlaLeuProArgTer)
|
rs886042428
|
|
NM_004586.3(RPS6KA3):c.1539_1542del (p.Glu515fs)
|
rs886043293
|
|
NM_004586.3(RPS6KA3):c.185del (p.Lys62fs)
|
rs398124175
|
|
NM_004586.3(RPS6KA3):c.632-1G>A
|
rs398124177
|
|
NM_004586.3(RPS6KA3):c.632-1G>C
|
rs398124177
|
|
NM_004586.3(RPS6KA3):c.718_721del (p.Val240fs)
|
rs398124178
|
|
NM_004589.4(SCO1):c.364_364+1del
|
rs587776629
|
|
NM_004646.4(NPHS1):c.2847_2853del (p.Val949_Val950insTer)
|
rs886042517
|
|
NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met)
|
rs121434241
|
|
NM_004722.4(AP4M1):c.737del (p.Pro246fs)
|
rs1191415115
|
|
NM_004744.5(LRAT):c.588dup (p.Ala197fs)
|
rs398124185
|
|
NM_004782.4(SNAP29):c.487dup (p.Ser163fs)
|
rs387907363
|
|
NM_004817.4(TJP2):c.1451del (p.Pro484fs)
|
rs1554662952
|
|
NM_004817.4(TJP2):c.1697T>A (p.Leu566Ter)
|
rs886042381
|
|
NM_004817.4(TJP2):c.1780+1G>T
|
rs1554664852
|
|
NM_004817.4(TJP2):c.1992-2A>G
|
rs587777521
|
|
NM_004817.4(TJP2):c.2353C>T (p.Gln785Ter)
|
rs1563948951
|
|
NM_004817.4(TJP2):c.2509C>T (p.Arg837Ter)
|
rs746830415
|
|
NM_004817.4(TJP2):c.498dup (p.Arg167fs)
|
rs781334233
|
|
NM_004817.4(TJP2):c.766_769del (p.Ala256fs)
|
rs587777518
|
|
NM_004817.4(TJP2):c.782del (p.Tyr261fs)
|
rs771690686
|
|
NM_004817.4(TJP2):c.817del (p.Ala273fs)
|
rs864321697
|
|
NM_004817.4(TJP2):c.84dup (p.Trp29fs)
|
rs1563915664
|
|
NM_004937.3(CTNS):c.18_21del (p.Thr7fs)
|
rs786204501
|
|
NM_005199.5(CHRNG):c.117dup (p.Asn40fs)
|
rs797044677
|
|
NM_005216.5(DDOST):c.1214_1235del (p.Ile405fs)
|
rs587776874
|
|
NM_005216.5(DDOST):c.599G>A (p.Gly200Asp)
|
rs387906831
|
|
NM_005219.5(DIAPH1):c.3637C>T (p.Arg1213Ter)
|
rs876657776
|
|
NM_005249.5(FOXG1):c.460dup (p.Glu154fs)
|
rs398124204
|
|
NM_005249.5(FOXG1):c.648_655del (p.Tyr217fs)
|
rs727503934
|
|
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)
|
rs104894229
|
|
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)
|
rs281875322
|
|
NM_005359.6(SMAD4):c.326delinsAAATATGAAC (p.Leu109delinsGlnIleTer)
|
rs727504151
|
|
NM_005378.6(MYCN):c.817G>T (p.Glu273Ter)
|
rs886042150
|
|
NM_005422.4(TECTA):c.1774+1G>T
|
rs372925383
|
|
NM_005422.4(TECTA):c.1893C>A (p.Cys631Ter)
|
rs1555123909
|
|
NM_005422.4(TECTA):c.730_737del (p.Arg244fs)
|
rs1565518246
|
|
NM_005461.5(MAFB):c.161C>T (p.Ser54Leu)
|
rs730880014
|
|
NM_005476.7(GNE):c.1633_1633+3del
|
rs1554658877
|
|
NM_005476.7(GNE):c.164+1G>A
|
rs1554664043
|
|
NM_005476.7(GNE):c.1686del (p.Cys563fs)
|
rs886044449
|
|
NM_005476.7(GNE):c.1792_1793dup (p.Glu599fs)
|
rs1436850036
|
|
NM_005476.7(GNE):c.1915C>T (p.Gln639Ter)
|
rs886042195
|
|
NM_005476.7(GNE):c.2086G>A (p.Val696Met)
|
rs121908627
|
|
NM_005476.7(GNE):c.38G>C (p.Cys13Ser)
|
rs1209266607
|
|
NM_005476.7(GNE):c.470_471del (p.His157fs)
|
rs1554663368
|
|
NM_005476.7(GNE):c.484C>T (p.Arg162Cys)
|
rs769215411
|
|
NM_005476.7(GNE):c.4G>T (p.Glu2Ter)
|
rs886044514
|
|
NM_005476.7(GNE):c.601_604dup (p.Arg202fs)
|
rs886042120
|
|
NM_005476.7(GNE):c.616+1del
|
rs1554663295
|
|
NM_005476.7(GNE):c.617-2A>G
|
rs1554661582
|
|
NM_005559.4(LAMA1):c.505C>T (p.Arg169Ter)
|
rs752872595
|
|
NM_005591.4(MRE11):c.845+2T>A
|
rs587781381
|
|
NM_005609.4(PYGM):c.2262del (p.Lys754fs)
|
rs398124210
|
|
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)
|
rs119103258
|
|
NM_005609.4(PYGM):c.501dup (p.Asn168Ter)
|
rs1555136390
|
|
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr)
|
rs397517150
|
|
NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg)
|
rs397517149
|
|
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys)
|
rs397517154
|
|
NM_005677.4(COLQ):c.1082del (p.Pro361fs)
|
rs769982050
|
|
NM_005677.4(COLQ):c.529-2A>G
|
rs755236236
|
|
NM_005857.5(ZMPSTE24):c.1263dup (p.Ala422fs)
|
rs281875375
|
|
NM_005857.5(ZMPSTE24):c.818del (p.Lys273fs)
|
rs886044057
|
|
NM_005859.5(PURA):c.367C>T (p.Gln123Ter)
|
rs886042229
|
|
NM_005859.5(PURA):c.677_678del (p.Val226fs)
|
rs1064796830
|
|
NM_005902.4(SMAD3):c.769del (p.Val257fs)
|
rs1555413562
|
|
NM_005902.4(SMAD3):c.802C>T (p.Arg268Cys)
|
rs794727798
|
|
NM_006005.3(WFS1):c.1060_1062del (p.Phe354del)
|
rs876657735
|
|
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val)
|
rs387906930
|
|
NM_006012.4(CLPP):c.367+2T>C
|
rs909909437
|
|
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)
|
rs137853006
|
|
NM_006017.3(PROM1):c.1234del (p.Tyr412fs)
|
rs1460604134
|
|
NM_006019.4(TCIRG1):c.292C>T (p.Gln98Ter)
|
rs1554995115
|
|
NM_006019.4(TCIRG1):c.703dup (p.Ile235fs)
|
rs1554995715
|
|
NM_006031.6(PCNT):c.2984_2994del (p.Ala995fs)
|
rs587784302
|
|
NM_006031.6(PCNT):c.3757G>T (p.Glu1253Ter)
|
rs1555973872
|
|
NM_006208.3(ENPP1):c.288del (p.Gly96_Leu97insTer)
|
rs1554278189
|
|
NM_006214.4(PHYH):c.235C>T (p.Gln79Ter)
|
rs1554785113
|
|
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys)
|
rs863225079
|
|
NM_006261.5(PROP1):c.301_302del (p.Leu102fs)
|
rs193922688
|
|
NM_006269.2(RP1):c.2029C>T (p.Arg677Ter)
|
rs104894082
|
|
NM_006269.2(RP1):c.2700dup (p.Pro901fs)
|
rs797044735
|
|
NM_006269.2(RP1):c.2745delinsAA (p.Tyr915Ter)
|
rs1554519662
|
|
NM_006269.2(RP1):c.3734del (p.Cys1245fs)
|
rs1563331742
|
|
NM_006269.2(RP1):c.4555del (p.Arg1519fs)
|
rs794727640
|
|
NM_006269.2(RP1):c.5017del (p.Tyr1673fs)
|
rs753090404
|
|
NM_006269.2(RP1):c.5019T>G (p.Tyr1673Ter)
|
rs398124220
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
NM_006412.4(AGPAT2):c.282del (p.Ile94fs)
|
rs886043265
|
|
NM_006493.4(CLN5):c.808_823del (p.Gly270fs)
|
rs386833983
|
|
NM_006493.4(CLN5):c.924_925del (p.Leu309fs)
|
rs386833964
|
|
NM_006516.4(SLC2A1):c.1296C>A (p.Tyr432Ter)
|
rs75485205
|
|
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)
|
rs80359818
|
|
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His)
|
rs80359816
|
|
NM_006516.4(SLC2A1):c.680-11G>A
|
rs1259158687
|
|
NM_006516.4(SLC2A1):c.907dup (p.Val303fs)
|
rs80359837
|
|
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser)
|
rs121909739
|
|
NM_006516.4(SLC2A1):c.966_967del (p.Ser324fs)
|
rs886044287
|
|
NM_006516.4(SLC2A1):c.980_981del (p.Val327fs)
|
rs80359838
|
|
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)
|
rs80359825
|
|
NM_006517.5(SLC16A2):c.326G>A (p.Trp109Ter)
|
rs794726932
|
|
NM_006517.5(SLC16A2):c.327G>A (p.Trp109Ter)
|
rs1569281190
|
|
NM_006517.5(SLC16A2):c.434G>A (p.Trp145Ter)
|
rs1555989364
|
|
NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val)
|
rs104894936
|
|
NM_006517.5(SLC16A2):c.46C>T (p.Gln16Ter)
|
rs1569280986
|
|
NM_006517.5(SLC16A2):c.576-1G>A
|
rs886042238
|
|
NM_006642.5(SDCCAG8):c.1159del (p.Ala387fs)
|
rs778900414
|
|
NM_006642.5(SDCCAG8):c.1444del (p.Thr482fs)
|
rs587777847
|
|
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter)
|
rs199469465
|
|
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter)
|
rs199469464
|
|
NM_006790.3(MYOT):c.170C>T (p.Thr57Ile)
|
rs28937597
|
|
NM_006790.3(MYOT):c.179C>G (p.Ser60Cys)
|
rs121908458
|
|
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala)
|
rs672601335
|
|
NM_006915.3(RP2):c.352del (p.Arg118fs)
|
rs797044507
|
|
NM_006915.3(RP2):c.593_594del (p.Tyr198fs)
|
rs886044897
|
|
NM_006915.3(RP2):c.631del (p.Arg211fs)
|
rs398124239
|
|
NM_006941.4(SOX10):c.604_605del (p.Ala202fs)
|
rs1569169199
|
|
NM_006950.3(SYN1):c.377G>A (p.Trp126Ter)
|
rs886042481
|
|
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs)
|
rs727503731
|
|
NM_007126.5(VCP):c.277C>T (p.Arg93Cys)
|
rs1554669087
|
|
NM_007126.5(VCP):c.463C>T (p.Arg155Cys)
|
rs121909330
|
|
NM_007126.5(VCP):c.464G>A (p.Arg155His)
|
rs121909329
|
|
NM_007194.4(CHEK2):c.591del (p.Val198fs)
|
rs587782245
|
|
NM_007214.5(SEC63):c.109del (p.Arg37fs)
|
rs727504146
|
|
NM_007214.5(SEC63):c.1605dup (p.Pro536fs)
|
rs752868449
|
|
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs)
|
rs587784365
|
|
NM_007254.4(PNKP):c.1317_1321dup (p.Ala441fs)
|
rs796052862
|
|
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs)
|
rs80359874
|
|
NM_007294.4(BRCA1):c.1204del (p.Glu402fs)
|
rs80357859
|
|
NM_007294.4(BRCA1):c.1A>G (p.Met1Val)
|
rs80357287
|
|
NM_007294.4(BRCA1):c.2071del (p.Arg691fs)
|
rs80357688
|
|
NM_007294.4(BRCA1):c.2457del (p.Asp821fs)
|
rs80357669
|
|
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs)
|
rs80357877
|
|
NM_007294.4(BRCA1):c.3705_3747dup (p.Glu1250delinsGlnTyrThrPheSerValTyrTer)
|
rs797044631
|
|
NM_007294.4(BRCA1):c.391A>T (p.Arg131Ter)
|
rs80357207
|
|
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)
|
rs41293455
|
|
NM_007294.4(BRCA1):c.5035_5039del (p.Leu1679fs)
|
rs80357623
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.66dup (p.Glu23fs)
|
rs80357783
|
|
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)
|
rs80357914
|
|
NM_007315.4(STAT1):c.88del (p.Ile30fs)
|
rs886043118
|
|
NM_012144.4(DNAI1):c.2001+1G>A
|
rs397515563
|
|
NM_012203.2(GRHPR):c.103del (p.Asp35fs)
|
rs80356708
|
|
NM_012210.4(TRIM32):c.1131_1132del (p.Tyr378fs)
|
rs1564217246
|
|
NM_012210.4(TRIM32):c.509T>A (p.Leu170Ter)
|
rs886044692
|
|
NM_012210.4(TRIM32):c.918dup (p.Trp307fs)
|
rs1554733019
|
|
NM_012213.3(MLYCD):c.680_685dup (p.Lys228_Arg229insLeuLys)
|
rs398124254
|
|
NM_012233.3(RAB3GAP1):c.2343_2347del (p.Pro782fs)
|
rs794727324
|
|
NM_012233.3(RAB3GAP1):c.612del (p.Leu205fs)
|
rs886043201
|
|
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter)
|
rs727504157
|
|
NM_012463.4(ATP6V0A2):c.304C>T (p.Gln102Ter)
|
rs794727643
|
|
NM_012463.4(ATP6V0A2):c.825+2T>C
|
rs398124257
|
|
NM_013296.5(GPSM2):c.485del (p.Pro162fs)
|
rs766556930
|
|
NM_013296.5(GPSM2):c.742del (p.Gly249fs)
|
rs528069912
|
|
NM_013328.4(PYCR2):c.757_758dup (p.Leu254fs)
|
rs886043378
|
|
NM_013382.7(POMT2):c.1045_1052delinsG (p.Arg349fs)
|
rs886042094
|
|
NM_013382.7(POMT2):c.1123_1124dup (p.Tyr376fs)
|
rs886042401
|
|
NM_013382.7(POMT2):c.1658dup (p.Asn553fs)
|
rs886043110
|
|
NM_013382.7(POMT2):c.1726-2A>G
|
rs727503873
|
|
NM_013382.7(POMT2):c.672del (p.Trp225fs)
|
rs1566656247
|
|
NM_013382.7(POMT2):c.924-2A>G
|
rs886044256
|
|
NM_014028.4(OSTM1):c.415_416del (p.Gln140fs)
|
rs794727287
|
|
NM_014112.4(TRPS1):c.1766dup (p.His590Alafs)
|
rs1554596004
|
|
NM_014112.5(TRPS1):c.1175_1176del (p.Asn391_Ser392insTer)
|
rs1563638218
|
|
NM_014112.5(TRPS1):c.3319del (p.Leu1107fs)
|
rs886042507
|
|
NM_014251.3(SLC25A13):c.1631del (p.Ile544fs)
|
rs1562774778
|
|
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs)
|
rs80338720
|
|
NM_014254.3(RXYLT1):c.641del (p.Phe214fs)
|
rs1354951198
|
|
NM_014270.5(SLC7A9):c.614dup (p.Asn206fs)
|
rs745319034
|
|
NM_014363.6(SACS):c.10822_10823del (p.Ser3608fs)
|
rs1555250082
|
|
NM_014363.6(SACS):c.12028C>T (p.Gln4010Ter)
|
rs148297332
|
|
NM_014363.6(SACS):c.5065_5066del (p.Ser1689fs)
|
rs1372213267
|
|
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter)
|
rs786204750
|
|
NM_014384.3(ACAD8):c.447_448dup (p.Cys150fs)
|
rs398124269
|
|
NM_014425.5(INVS):c.1464+1G>T
|
rs375753623
|
|
NM_014425.5(INVS):c.2097_2098del (p.Gln699fs)
|
rs1564193130
|
|
NM_014425.5(INVS):c.2509C>T (p.Gln837Ter)
|
rs755549444
|
|
NM_014425.5(INVS):c.662dup (p.Arg222fs)
|
rs769739938
|
|
NM_014491.4(FOXP2):c.678dup (p.Leu227fs)
|
rs786200976
|
|
NM_014625.4(NPHS2):c.855_856del (p.Arg286fs)
|
rs749740335
|
|
NM_014639.4(SKIC3):c.2808G>A (p.Trp936Ter)
|
rs534237033
|
|
NM_014714.4(IFT140):c.3991C>T (p.Gln1331Ter)
|
rs794727473
|
|
NM_014780.5(CUL7):c.2112G>A (p.Trp704Ter)
|
rs1554138577
|
|
NM_014780.5(CUL7):c.2559del (p.Ser854fs)
|
rs1554137913
|
|
NM_014780.5(CUL7):c.2787del (p.Ser930fs)
|
rs886043872
|
|
NM_014780.5(CUL7):c.2848A>T (p.Lys950Ter)
|
rs886044397
|
|
NM_014780.5(CUL7):c.898_919del (p.Met300fs)
|
rs794727644
|
|
NM_014795.4(ZEB2):c.1027C>T (p.Arg343Ter)
|
rs786204815
|
|
NM_014795.4(ZEB2):c.1102C>T (p.Gln368Ter)
|
rs886041338
|
|
NM_014795.4(ZEB2):c.1218del (p.His407fs)
|
rs727504226
|
|
NM_014795.4(ZEB2):c.1381C>T (p.Gln461Ter)
|
rs398124274
|
|
NM_014795.4(ZEB2):c.1426dup (p.Met476fs)
|
rs587776604
|
|
NM_014795.4(ZEB2):c.1541dup (p.Val515fs)
|
rs398124275
|
|
NM_014795.4(ZEB2):c.1586del (p.Thr529fs)
|
rs398124276
|
|
NM_014795.4(ZEB2):c.1806C>G (p.Tyr602Ter)
|
rs1553961660
|
|
NM_014795.4(ZEB2):c.1876G>T (p.Gly626Ter)
|
rs727504224
|
|
NM_014795.4(ZEB2):c.2032del (p.Ser678fs)
|
rs398124277
|
|
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter)
|
rs137852981
|
|
NM_014795.4(ZEB2):c.2174_2177dup (p.Leu728fs)
|
rs398124278
|
|
NM_014795.4(ZEB2):c.2701C>T (p.Gln901Ter)
|
rs794727924
|
|
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter)
|
rs587784566
|
|
NM_014795.4(ZEB2):c.280G>T (p.Glu94Ter)
|
rs727504228
|
|
NM_014795.4(ZEB2):c.2986_2987del (p.Ser996fs)
|
rs1553961343
|
|
NM_014795.4(ZEB2):c.304dup (p.Ile102fs)
|
rs786200997
|
|
NM_014795.4(ZEB2):c.3359_3364delinsTAATG (p.Gly1120fs)
|
rs398124280
|
|
NM_014795.4(ZEB2):c.3533del (p.Thr1178fs)
|
rs727504223
|
|
NM_014795.4(ZEB2):c.643_659del (p.Tyr215fs)
|
rs398124281
|
|
NM_014795.4(ZEB2):c.73+2T>C
|
rs398124282
|
|
NM_014795.4(ZEB2):c.782_783del (p.Val261fs)
|
rs398124283
|
|
NM_014795.4(ZEB2):c.789_790del (p.His263fs)
|
rs1553962048
|
|
NM_014795.4(ZEB2):c.805C>T (p.Gln269Ter)
|
rs398124284
|
|
NM_014795.4(ZEB2):c.930C>A (p.Tyr310Ter)
|
rs6711223
|
|
NM_014795.4(ZEB2):c.980C>A (p.Ser327Ter)
|
rs756686919
|
|
NM_014804.3(KIAA0753):c.1323T>A (p.Tyr441Ter)
|
rs780010794
|
|
NM_014844.5(TECPR2):c.242_243del (p.Val81fs)
|
rs886043167
|
|
NM_014874.4(MFN2):c.1148C>T (p.Ala383Val)
|
rs794727035
|
|
NM_014874.4(MFN2):c.227T>C (p.Leu76Pro)
|
rs28940293
|
|
NM_014874.4(MFN2):c.280C>T (p.Arg94Trp)
|
rs119103263
|
|
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp)
|
rs119103268
|
|
NM_014908.3(DOLK):c.1447C>A (p.Gln483Lys)
|
rs727503904
|
|
NM_015046.6(SETX):c.6848_6851delCAGA
|
|
|
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser)
|
rs29001584
|
|
NM_015100.4(POGZ):c.1048dup (p.Arg350fs)
|
rs1557909170
|
|
NM_015100.4(POGZ):c.2817_2830del (p.Cys939_Asp944delinsTer)
|
rs1553212757
|
|
NM_015102.5(NPHP4):c.189_192del (p.Phe63fs)
|
rs1553200990
|
|
NM_015102.5(NPHP4):c.2940_2944dup (p.His982fs)
|
rs398124289
|
|
NM_015102.5(NPHP4):c.3409_3412del (p.Tyr1137fs)
|
rs762371581
|
|
NM_015102.5(NPHP4):c.3618del (p.Asp1208fs)
|
rs1557588167
|
|
NM_015272.5(RPGRIP1L):c.2125C>T (p.Arg709Ter)
|
rs1037406858
|
|
NM_015295.2(SMCHD1):c.2142dup (p.Ile715Tyrfs)
|
rs1555635144
|
|
NM_015295.3(SMCHD1):c.1186C>T (p.Gln396Ter)
|
rs377471712
|
|
NM_015295.3(SMCHD1):c.120del (p.Asp42fs)
|
rs1555622310
|
|
NM_015295.3(SMCHD1):c.1672_1673del (p.Glu558fs)
|
rs1568183325
|
|
NM_015295.3(SMCHD1):c.1843-1G>A
|
rs886043146
|
|
NM_015295.3(SMCHD1):c.1872_1873del (p.Phe624fs)
|
rs1568188407
|
|
NM_015295.3(SMCHD1):c.3197del (p.Met1066fs)
|
rs1568261067
|
|
NM_015295.3(SMCHD1):c.3238_3239del (p.Glu1080fs)
|
rs886043182
|
|
NM_015295.3(SMCHD1):c.3276_3276+4del
|
rs1555642277
|
|
NM_015295.3(SMCHD1):c.3801+1G>A
|
rs886042417
|
|
NM_015295.3(SMCHD1):c.424+1G>A
|
rs1555625396
|
|
NM_015295.3(SMCHD1):c.4733_4736dup (p.Glu1579fs)
|
rs1555651730
|
|
NM_015295.3(SMCHD1):c.4799dup (p.Leu1600fs)
|
rs867598503
|
|
NM_015295.3(SMCHD1):c.4898T>G (p.Leu1633Ter)
|
rs886044419
|
|
NM_015295.3(SMCHD1):c.5020del (p.Ile1674fs)
|
rs886044129
|
|
NM_015295.3(SMCHD1):c.5547+1G>C
|
rs1555654127
|
|
NM_015311.3(OBSL1):c.1997_2049del (p.Gly666fs)
|
rs1553537027
|
|
NM_015335.5(MED13L):c.5285del (p.Leu1762fs)
|
rs886043314
|
|
NM_015346.4(ZFYVE26):c.3373del (p.His1125fs)
|
rs878855011
|
|
NM_015346.4(ZFYVE26):c.4455del (p.Trp1485fs)
|
rs1566881181
|
|
NM_015346.4(ZFYVE26):c.5485-1del
|
rs878855013
|
|
NM_015404.4(WHRN):c.1417-1G>A
|
rs779760634
|
|
NM_015506.3(MMACHC):c.547_548del (p.Val183fs)
|
rs1305170860
|
|
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter)
|
rs747527726
|
|
NM_015506.3(MMACHC):c.658_660del (p.Lys220del)
|
rs398124296
|
|
NM_015629.4(PRPF31):c.1073+1G>A
|
rs794727001
|
|
NM_015629.4(PRPF31):c.1273C>T (p.Gln425Ter)
|
rs727504107
|
|
NM_015629.4(PRPF31):c.615C>A (p.Tyr205Ter)
|
rs144738703
|
|
NM_015629.4(PRPF31):c.973G>T (p.Glu325Ter)
|
rs1555794201
|
|
NM_015665.6(AAAS):c.1332-2A>T
|
rs1565776390
|
|
NM_015884.4(MBTPS2):c.1286G>A (p.Arg429His)
|
rs122468178
|
|
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter)
|
rs113993991
|
|
NM_016042.4(EXOSC3):c.619_622dup (p.Arg208delinsAsnTer)
|
rs1160669103
|
|
NM_016180.5(SLC45A2):c.1152T>G (p.Tyr384Ter)
|
rs886042344
|
|
NM_016180.5(SLC45A2):c.834C>G (p.Tyr278Ter)
|
rs116887602
|
|
NM_016180.5(SLC45A2):c.856C>T (p.Gln286Ter)
|
rs794727511
|
|
NM_016180.5(SLC45A2):c.986del (p.Thr329fs)
|
rs387906317
|
|
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs)
|
rs769260536
|
|
NM_016239.4(MYO15A):c.2258_2259del (p.Ala753fs)
|
rs1555539322
|
|
NM_016239.4(MYO15A):c.6178-1G>A
|
rs886044338
|
|
NM_016247.4(IMPG2):c.1818dup (p.Gln607fs)
|
rs1553681434
|
|
NM_016356.5(DCDC2):c.293dup (p.Asn98fs)
|
rs1561787158
|
|
NM_016356.5(DCDC2):c.294-2A>G
|
rs1554121105
|
|
NM_016356.5(DCDC2):c.383C>G (p.Ser128Ter)
|
rs904520404
|
|
NM_016356.5(DCDC2):c.529dup (p.Ile177fs)
|
rs904944428
|
|
NM_016356.5(DCDC2):c.970dup (p.Ala324fs)
|
rs774115675
|
|
NM_016373.4(WWOX):c.255C>G (p.Tyr85Ter)
|
rs990150249
|
|
NM_016729.3(FOLR1):c.34del (p.Leu12fs)
|
rs1555068629
|
|
NM_017433.5(MYO3A):c.3447_3448del (p.Arg1150fs)
|
rs764507216
|
|
NM_017668.3(NDE1):c.704-1G>A
|
rs398123577
|
|
NM_017671.5(FERMT1):c.787C>T (p.Gln263Ter)
|
rs121918292
|
|
NM_017739.4(POMGNT1):c.477dup (p.Met160fs)
|
rs1553163920
|
|
NM_017739.4(POMGNT1):c.92dup (p.Asn31fs)
|
rs398124310
|
|
NM_017777.4(MKS1):c.1025-2A>C
|
rs794727070
|
|
NM_017777.4(MKS1):c.1249del (p.Ala417fs)
|
rs1567796331
|
|
NM_017777.4(MKS1):c.1408-34_1408-6del
|
rs386834043
|
|
NM_017780.4(CHD7):c.1090C>T (p.Gln364Ter)
|
rs727503860
|
|
NM_017780.4(CHD7):c.1224_1234del (p.Pro409fs)
|
rs794727295
|
|
NM_017780.4(CHD7):c.1369C>T (p.Gln457Ter)
|
rs727503861
|
|
NM_017780.4(CHD7):c.1465C>T (p.Gln489Ter)
|
rs794727298
|
|
NM_017780.4(CHD7):c.2839C>T (p.Arg947Ter)
|
rs200220845
|
|
NM_017780.4(CHD7):c.2848del (p.Ala950fs)
|
rs886043750
|
|
NM_017780.4(CHD7):c.2933G>A (p.Trp978Ter)
|
rs727503863
|
|
NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val)
|
rs121434338
|
|
NM_017780.4(CHD7):c.380del (p.Pro127fs)
|
rs886043945
|
|
NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter)
|
rs1563644066
|
|
NM_017780.4(CHD7):c.4379_4380del (p.Ile1460fs)
|
rs398124319
|
|
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter)
|
rs794727293
|
|
NM_017780.4(CHD7):c.4793C>G (p.Ser1598Ter)
|
rs1563649180
|
|
NM_017780.4(CHD7):c.5181C>G (p.Tyr1727Ter)
|
rs398124320
|
|
NM_017780.4(CHD7):c.5405-17G>A
|
rs794727423
|
|
NM_017780.4(CHD7):c.5405-7G>A
|
rs398124321
|
|
NM_017780.4(CHD7):c.5895-1G>C
|
rs398124322
|
|
NM_017780.4(CHD7):c.5971C>T (p.Gln1991Ter)
|
rs1563659730
|
|
NM_017780.4(CHD7):c.6148C>T (p.Arg2050Ter)
|
rs886040996
|
|
NM_017780.4(CHD7):c.6529G>T (p.Glu2177Ter)
|
rs750047137
|
|
NM_017780.4(CHD7):c.6995G>A (p.Trp2332Ter)
|
rs794727569
|
|
NM_017780.4(CHD7):c.7145dup (p.Ser2383fs)
|
rs786200969
|
|
NM_017780.4(CHD7):c.7641_7651del (p.Glu2547fs)
|
rs886042312
|
|
NM_017780.4(CHD7):c.8453_8463dup (p.Ala2822fs)
|
rs797044725
|
|
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter)
|
rs104894483
|
|
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs)
|
rs774357106
|
|
NM_017950.4(CCDC40):c.1440+1G>C
|
rs886042621
|
|
NM_017950.4(CCDC40):c.3354C>A (p.Tyr1118Ter)
|
rs374909386
|
|
NM_018006.5(TRMU):c.333dup (p.His112fs)
|
rs756600903
|
|
NM_018075.5(ANO10):c.132dup (p.Asp45fs)
|
rs540331226
|
|
NM_018122.5(DARS2):c.223C>T (p.Arg75Ter)
|
rs1557852998
|
|
NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs)
|
rs587783263
|
|
NM_018136.5(ASPM):c.8829G>A (p.Trp2943Ter)
|
rs886043249
|
|
NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs)
|
rs765211108
|
|
NM_018297.4(NGLY1):c.1891del (p.Gln631fs)
|
rs587776982
|
|
NM_018389.5(SLC35C1):c.91G>T (p.Glu31Ter)
|
rs398124345
|
|
NM_018418.5(SPATA7):c.115_119del (p.Ser39fs)
|
rs1555370458
|
|
NM_018451.5(CENPJ):c.1681_1684del (p.Leu561fs)
|
rs886043932
|
|
NM_018668.5(VPS33B):c.1479+1G>A
|
rs1555458189
|
|
NM_018668.5(VPS33B):c.1616del (p.Glu539fs)
|
rs886043445
|
|
NM_018713.3(SLC30A10):c.585del (p.Thr196fs)
|
rs281860288
|
|
NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs)
|
rs199473693
|
|
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)
|
rs770374710
|
|
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs)
|
rs775796581
|
|
NM_019109.5(ALG1):c.115del (p.Val39fs)
|
rs886042130
|
|
NM_019109.5(ALG1):c.15C>A (p.Cys5Ter)
|
rs752922461
|
|
NM_020166.5(MCCC1):c.1074del (p.Trp358fs)
|
rs398124350
|
|
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs)
|
rs762463137
|
|
NM_020166.5(MCCC1):c.1905del (p.Lys635fs)
|
rs727504001
|
|
NM_020166.5(MCCC1):c.205A>T (p.Lys69Ter)
|
rs147741073
|
|
NM_020166.5(MCCC1):c.640-1G>A
|
rs727504005
|
|
NM_020166.5(MCCC1):c.640_641delGG
|
rs886058209
|
|
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter)
|
rs150862707
|
|
NM_020247.5(COQ8A):c.638_645del (p.Arg213fs)
|
rs886042265
|
|
NM_020436.5(SALL4):c.1311_1321del (p.Asn438fs)
|
rs1555850609
|
|
NM_020451.3(SELENON):c.13_22dup (p.Gln8fs)
|
rs797044621
|
|
NM_020451.3(SELENON):c.301+1G>T
|
rs398124360
|
|
NM_020451.3(SELENON):c.44_72dup (p.Arg25fs)
|
rs797044620
|
|
NM_020451.3(SELENON):c.713dup (p.Asn238fs)
|
rs368104077
|
|
NM_020451.3(SELENON):c.872+2T>C
|
rs794727808
|
|
NM_020458.4(TTC7A):c.1183dup (p.Gln395fs)
|
rs886042806
|
|
NM_020458.4(TTC7A):c.286G>T (p.Glu96Ter)
|
rs886042805
|
|
NM_020549.5(CHAT):c.418C>T (p.Gln140Ter)
|
rs794727516
|
|
NM_020549.5(CHAT):c.85A>T (p.Arg29Ter)
|
rs772025588
|
|
NM_020745.4(AARS2):c.647dup (p.Cys218fs)
|
rs587777589
|
|
NM_020751.3(COG6):c.1075-1G>T
|
rs781641023
|
|
NM_020751.3(COG6):c.112A>T (p.Lys38Ter)
|
rs794726950
|
|
NM_020779.4(WDR35):c.2998G>T (p.Glu1000Ter)
|
rs886043316
|
|
NM_020812.4(DOCK6):c.4194_4197dup (p.Val1400fs)
|
rs1555688690
|
|
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
|
|
|
NM_020944.3(GBA2):c.1153G>T (p.Gly385Ter)
|
rs756503362
|
|
NM_020964.3(EPG5):c.1497+1G>T
|
rs886043244
|
|
NM_020964.3(EPG5):c.6608_6609insTCAG (p.Lys2205fs)
|
rs1568103027
|
|
NM_020975.6(RET):c.1852T>C (p.Cys618Arg)
|
rs76262710
|
|
NM_020975.6(RET):c.1852T>G (p.Cys618Gly)
|
rs76262710
|
|
NM_020975.6(RET):c.1853G>C (p.Cys618Ser)
|
rs79781594
|
|
NM_020975.6(RET):c.1859G>T (p.Cys620Phe)
|
rs77503355
|
|
NM_020975.6(RET):c.2410G>T (p.Val804Leu)
|
rs79658334
|
|
NM_020975.6(RET):c.2418C>G (p.Tyr806Ter)
|
rs553418132
|
|
NM_020975.6(RET):c.2586_2592del (p.Met862fs)
|
rs794727130
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_021120.4(DLG3):c.2280T>G (p.Tyr760Ter)
|
rs727503900
|
|
NM_021625.5(TRPV4):c.1858G>A (p.Val620Ile)
|
rs121912633
|
|
NM_021728.4(OTX2):c.534C>A (p.Cys178Ter)
|
rs886043793
|
|
NM_022081.6(HPS4):c.446dup (p.Asn149fs)
|
rs1555907536
|
|
NM_022124.6(CDH23):c.3221-2A>G
|
rs1564749141
|
|
NM_022124.6(CDH23):c.4209+1G>T
|
rs727503841
|
|
NM_022132.5(MCCC2):c.1081C>T (p.Arg361Ter)
|
rs763293192
|
|
NM_022132.5(MCCC2):c.214C>T (p.Arg72Ter)
|
rs147903984
|
|
NM_022132.5(MCCC2):c.380C>G (p.Ser127Ter)
|
rs398124372
|
|
NM_022356.4(P3H1):c.1120G>T (p.Glu374Ter)
|
rs140468248
|
|
NM_022356.4(P3H1):c.1346-1G>C
|
rs886042897
|
|
NM_022369.4(STRA6):c.1385del (p.Asn462fs)
|
rs794727153
|
|
NM_022369.4(STRA6):c.910_911delinsAA (p.Gly304Lys)
|
rs151341424
|
|
NM_022436.3(ABCG5):c.1492C>T (p.Arg498Ter)
|
rs760929179
|
|
NM_022436.3(ABCG5):c.403-1G>A
|
rs1158082114
|
|
NM_022436.3(ABCG5):c.403-2A>G
|
rs1553372935
|
|
NM_022437.3(ABCG8):c.120C>A (p.Tyr40Ter)
|
rs1000291485
|
|
NM_022437.3(ABCG8):c.547del (p.Gln183fs)
|
rs387906323
|
|
NM_022437.3(ABCG8):c.647_657dup (p.Arg220fs)
|
rs1456237152
|
|
NM_022437.3(ABCG8):c.72_73delinsC (p.Gln24fs)
|
rs1558796310
|
|
NM_022437.3(ABCG8):c.965-1G>C
|
rs957176669
|
|
NM_022455.5(NSD1):c.2349del (p.Lys783fs)
|
rs398124374
|
|
NM_022455.5(NSD1):c.2915del (p.Thr972fs)
|
rs1554189879
|
|
NM_022455.5(NSD1):c.3214C>T (p.Arg1072Ter)
|
rs587784098
|
|
NM_022455.5(NSD1):c.3382dup (p.Ser1128fs)
|
rs886043780
|
|
NM_022455.5(NSD1):c.4058_4061del (p.Glu1353fs)
|
rs1554195857
|
|
NM_022455.5(NSD1):c.4217_4220del (p.Arg1406fs)
|
rs794727930
|
|
NM_022455.5(NSD1):c.5279_5282del (p.Val1760fs)
|
rs398124379
|
|
NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter)
|
rs794727176
|
|
NM_022455.5(NSD1):c.6049C>T (p.Arg2017Trp)
|
rs587784176
|
|
NM_022455.5(NSD1):c.6152-1G>A
|
rs886044326
|
|
NM_022455.5(NSD1):c.6440dup (p.Asn2148fs)
|
rs886042725
|
|
NM_022455.5(NSD1):c.6463+1G>A
|
rs398124381
|
|
NM_022455.5(NSD1):c.6538_6539insC (p.Ser2180fs)
|
rs398124383
|
|
NM_022464.5(SIL1):c.1205del (p.Gly402fs)
|
rs886043087
|
|
NM_022464.5(SIL1):c.1312C>T (p.Gln438Ter)
|
rs119456966
|
|
NM_023067.4(FOXL2):c.804dup (p.Gly269fs)
|
rs797044528
|
|
NM_024079.5(ALG8):c.121C>T (p.Arg41Ter)
|
rs200888240
|
|
NM_024301.5(FKRP):c.1141del (p.Ala381fs)
|
rs754403441
|
|
NM_024301.5(FKRP):c.1256_1257del (p.Pro419fs)
|
rs886043959
|
|
NM_024301.5(FKRP):c.1267del (p.Arg423fs)
|
rs886044083
|
|
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp)
|
rs28937903
|
|
NM_024301.5(FKRP):c.162_165dup (p.Phe56fs)
|
rs886042506
|
|
NM_024301.5(FKRP):c.1A>G (p.Met1Val)
|
rs587777223
|
|
NM_024301.5(FKRP):c.675del (p.Thr226fs)
|
rs886043706
|
|
NM_024301.5(FKRP):c.740del (p.Pro247fs)
|
rs1568418845
|
|
NM_024301.5(FKRP):c.77G>A (p.Trp26Ter)
|
rs752731569
|
|
NM_024301.5(FKRP):c.941C>T (p.Thr314Met)
|
rs398124395
|
|
NM_024301.5(FKRP):c.970G>T (p.Glu324Ter)
|
rs886044183
|
|
NM_024312.5(GNPTAB):c.1036_1037del (p.Ile346fs)
|
rs398124396
|
|
NM_024312.5(GNPTAB):c.1298G>A (p.Trp433Ter)
|
rs398124397
|
|
NM_024312.5(GNPTAB):c.157_160del (p.Phe53fs)
|
rs794727302
|
|
NM_024312.5(GNPTAB):c.1906dup (p.Arg636fs)
|
rs747789493
|
|
NM_024312.5(GNPTAB):c.3326dup (p.Asn1109fs)
|
rs797044663
|
|
NM_024312.5(GNPTAB):c.344_345del (p.Thr115fs)
|
rs281864954
|
|
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs)
|
rs34002892
|
|
NM_024312.5(GNPTAB):c.3560_3561del (p.Glu1187fs)
|
rs781689303
|
|
NM_024312.5(GNPTAB):c.616_619del (p.Thr206fs)
|
rs281865024
|
|
NM_024312.5(GNPTAB):c.732_733del (p.Lys244fs)
|
rs398124400
|
|
NM_024312.5(GNPTAB):c.749dup (p.Asn250fs)
|
rs281864964
|
|
NM_024408.4(NOTCH2):c.1021dup (p.Asp341fs)
|
rs1553200134
|
|
NM_024408.4(NOTCH2):c.1835dup (p.Tyr612Ter)
|
rs1553199298
|
|
NM_024408.4(NOTCH2):c.3246dup (p.Ala1083fs)
|
rs1553195973
|
|
NM_024408.4(NOTCH2):c.3415dup (p.Leu1139fs)
|
rs1557812162
|
|
NM_024408.4(NOTCH2):c.4005+1G>A
|
rs1557807153
|
|
NM_024408.4(NOTCH2):c.5274G>A (p.Trp1758Ter)
|
rs1553194093
|
|
NM_024408.4(NOTCH2):c.5664dup (p.Arg1889fs)
|
rs927740391
|
|
NM_024408.4(NOTCH2):c.5843del (p.Leu1948fs)
|
rs1557803353
|
|
NM_024408.4(NOTCH2):c.6007C>T (p.Arg2003Ter)
|
rs312262801
|
|
NM_024529.5(CDC73):c.237+1G>T
|
rs794727303
|
|
NM_024592.5(SRD5A3):c.364G>T (p.Gly122Ter)
|
rs1487808056
|
|
NM_024649.5(BBS1):c.887del (p.Ile296fs)
|
rs794727006
|
|
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)
|
rs180177143
|
|
NM_024685.4(BBS10):c.1091del (p.Asn364fs)
|
rs727503818
|
|
NM_024685.4(BBS10):c.1510_1511del (p.Ile504fs)
|
rs886043841
|
|
NM_024685.4(BBS10):c.197+1G>T
|
rs886042729
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_024747.6(HPS6):c.1864_1871del (p.Leu622fs)
|
rs1564899951
|
|
NM_024747.6(HPS6):c.283del (p.Val95fs)
|
rs1564899012
|
|
NM_024757.5(EHMT1):c.1349_1352del (p.Lys450fs)
|
rs886042181
|
|
NM_025000.4(DCAF17):c.436del (p.Ala147fs)
|
rs797045038
|
|
NM_025074.7(FRAS1):c.1931del (p.Gly644fs)
|
rs794727195
|
|
NM_025074.7(FRAS1):c.3370dup (p.Ser1124fs)
|
rs797044696
|
|
NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter)
|
rs775517752
|
|
NM_025099.6(CTC1):c.1245del (p.Thr416fs)
|
rs1567609103
|
|
NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs)
|
rs886043303
|
|
NM_025114.4(CEP290):c.1665_1666del (p.Lys555fs)
|
rs727503855
|
|
NM_025114.4(CEP290):c.1860_1863del (p.Arg621fs)
|
rs766608755
|
|
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)
|
rs1555220625
|
|
NM_025114.4(CEP290):c.2052+1_2052+2del
|
rs747835249
|
|
NM_025114.4(CEP290):c.2668C>T (p.Gln890Ter)
|
rs886044332
|
|
NM_025114.4(CEP290):c.2911G>T (p.Glu971Ter)
|
rs780805963
|
|
NM_025114.4(CEP290):c.5493del (p.Ala1832fs)
|
rs386834158
|
|
NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs)
|
rs727503853
|
|
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter)
|
rs886042360
|
|
NM_025114.4(CEP290):c.6604del (p.Ile2202fs)
|
rs758329611
|
|
NM_025114.4(CEP290):c.7062_7063del (p.Lys2355fs)
|
rs886042734
|
|
NM_025137.4(SPG11):c.4371G>A (p.Trp1457Ter)
|
rs886819382
|
|
NM_025137.4(SPG11):c.6451del (p.Ala2151fs)
|
rs312262779
|
|
NM_025193.4(HSD3B7):c.196del (p.Asp66fs)
|
rs1555492659
|
|
NM_025193.4(HSD3B7):c.268_281del (p.Val90fs)
|
rs1567370784
|
|
NM_025193.4(HSD3B7):c.294dup (p.Lys99fs)
|
rs397514443
|
|
NM_025193.4(HSD3B7):c.453del (p.Pro150_Tyr151insTer)
|
rs1567371518
|
|
NM_025193.4(HSD3B7):c.890del (p.Phe297fs)
|
rs886043511
|
|
NM_030632.3(ASXL3):c.1471C>T (p.Gln491Ter)
|
rs1060499602
|
|
NM_030632.3(ASXL3):c.1484del (p.Pro495fs)
|
rs886043487
|
|
NM_030632.3(ASXL3):c.4399C>T (p.Arg1467Ter)
|
rs1204482456
|
|
NM_030665.4(RAI1):c.3096del (p.Gln1035fs)
|
rs886044681
|
|
NM_030665.4(RAI1):c.3281C>A (p.Ser1094Ter)
|
rs376044849
|
|
NM_030665.4(RAI1):c.3583A>T (p.Lys1195Ter)
|
rs727504118
|
|
NM_030665.4(RAI1):c.412del (p.Val138fs)
|
rs398124419
|
|
NM_030665.4(RAI1):c.4678C>T (p.Arg1560Ter)
|
rs727504119
|
|
NM_031433.4(MFRP):c.298del (p.Ala100fs)
|
rs750894392
|
|
NM_031433.4(MFRP):c.955C>T (p.Gln319Ter)
|
rs1555037395
|
|
NM_031443.4(CCM2):c.30+5_30+6delinsTT
|
rs797044623
|
|
NM_031475.3(ESPN):c.264G>A (p.Trp88Ter)
|
rs1557690051
|
|
NM_031885.5(BBS2):c.1099dup (p.Leu367fs)
|
rs797044632
|
|
NM_031885.5(BBS2):c.535-2A>G
|
rs1555523398
|
|
NM_032119.4(ADGRV1):c.12368dup (p.Ser4124fs)
|
rs1561701900
|
|
NM_032119.4(ADGRV1):c.15984del (p.Tyr5329fs)
|
rs1554125179
|
|
NM_032119.4(ADGRV1):c.4251del (p.Lys1417fs)
|
rs1554072688
|
|
NM_032119.4(ADGRV1):c.4702del (p.Ser1568fs)
|
rs794727347
|
|
NM_032119.4(ADGRV1):c.627del (p.Gly210fs)
|
rs1554063934
|
|
NM_032119.4(ADGRV1):c.8204del (p.Asn2735fs)
|
rs794727584
|
|
NM_032520.5(GNPTG):c.333G>A (p.Trp111Ter)
|
rs137852884
|
|
NM_032520.5(GNPTG):c.436_446del (p.Asn146fs)
|
rs1555451874
|
|
NM_032581.4(HYCC1):c.415-1G>A
|
rs886043139
|
|
NM_032634.4(PIGO):c.1355_1356del (p.Ala452fs)
|
rs1554672911
|
|
NM_032634.4(PIGO):c.1810dup (p.Arg604fs)
|
rs774508288
|
|
NM_033337.3(CAV3):c.10_17del (p.Glu4fs)
|
rs778914298
|
|
NM_033337.3(CAV3):c.136G>A (p.Ala46Thr)
|
rs116840789
|
|
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr)
|
rs28936686
|
|
NM_033337.3(CAV3):c.301T>C (p.Trp101Arg)
|
rs199476337
|
|
NM_033380.3(COL4A5):c.1844G>A (p.Gly615Glu)
|
rs794727397
|
|
NM_033629.6(TREX1):c.144dup (p.Thr49fs)
|
rs748914604
|
|
NM_033629.6(TREX1):c.152_153del (p.Gln51fs)
|
rs773808155
|
|
NM_052989.3(IFT122):c.2035del (p.Ser679fs)
|
rs886042132
|
|
NM_054012.4(ASS1):c.1064del (p.Lys355fs)
|
rs886043088
|
|
NM_054012.4(ASS1):c.421-2A>G
|
rs751930594
|
|
NM_054012.4(ASS1):c.496-2A>G
|
rs398123130
|
|
NM_054012.4(ASS1):c.794G>A (p.Arg265His)
|
rs398123131
|
|
NM_058246.4(DNAJB6):c.273C>G (p.Phe91Leu)
|
rs759982570
|
|
NM_058246.4(DNAJB6):c.279C>A (p.Phe93Leu)
|
rs149278319
|
|
NM_058246.4(DNAJB6):c.279C>G (p.Phe93Leu)
|
rs149278319
|
|
NM_058246.4(DNAJB6):c.287C>G (p.Pro96Arg)
|
rs387907047
|
|
NM_080632.3(UPF3B):c.674_677del (p.Arg225fs)
|
rs794727881
|
|
NM_080680.3(COL11A2):c.2081_2085delinsA (p.Gly694fs)
|
rs886044584
|
|
NM_080680.3(COL11A2):c.3877C>T (p.Arg1293Ter)
|
rs746754428
|
|
NM_080680.3(COL11A2):c.966dup (p.Thr323fs)
|
rs748440351
|
|
NM_080916.3(DGUOK):c.254_255delinsT (p.Lys85fs)
|
rs1558650352
|
|
NM_080916.3(DGUOK):c.255del (p.Ala86fs)
|
rs886037613
|
|
NM_080916.3(DGUOK):c.443+1G>A
|
rs1057524864
|
|
NM_130468.4(CHST14):c.145del (p.Ala48_Val49insTer)
|
rs397518432
|
|
NM_130468.4(CHST14):c.567del (p.Phe190fs)
|
rs794726956
|
|
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln)
|
rs121908375
|
|
NM_130837.3(OPA1):c.1035+1G>A
|
rs727504059
|
|
NM_130837.3(OPA1):c.1148A>G (p.Lys383Arg)
|
rs398124303
|
|
NM_130837.3(OPA1):c.1261C>T (p.Arg421Ter)
|
rs104893753
|
|
NM_130837.3(OPA1):c.1305+1G>A
|
rs745927258
|
|
NM_130837.3(OPA1):c.1352T>G (p.Leu451Arg)
|
rs727504060
|
|
NM_130837.3(OPA1):c.1389dup (p.Gly464fs)
|
rs1553877912
|
|
NM_130837.3(OPA1):c.1499G>A (p.Arg500His)
|
rs80356529
|
|
NM_130837.3(OPA1):c.1517del (p.Leu506fs)
|
rs398124297
|
|
NM_130837.3(OPA1):c.1696delinsTTC (p.Ser566fs)
|
rs1553878647
|
|
NM_130837.3(OPA1):c.1800C>A (p.Ser600Arg)
|
rs398124298
|
|
NM_130837.3(OPA1):c.1834C>T (p.Arg612Ter)
|
rs398124299
|
|
NM_130837.3(OPA1):c.2224_2225del (p.Glu742fs)
|
rs794727345
|
|
NM_130837.3(OPA1):c.2422C>T (p.Gln808Ter)
|
rs398124301
|
|
NM_130837.3(OPA1):c.2547_2548del (p.Glu849fs)
|
rs1560041195
|
|
NM_130837.3(OPA1):c.2661+1G>T
|
rs794727392
|
|
NM_130837.3(OPA1):c.2734C>T (p.Arg912Ter)
|
rs794727405
|
|
NM_130837.3(OPA1):c.2816dup (p.Arg940fs)
|
rs886043317
|
|
NM_130837.3(OPA1):c.2873_2876del
|
rs80356530
|
|
NM_130837.3(OPA1):c.292_301del (p.Leu98fs)
|
rs794727289
|
|
NM_130837.3(OPA1):c.2987_2988del (p.Lys996fs)
|
rs886043136
|
|
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs)
|
rs879255560
|
|
NM_130837.3(OPA1):c.678+2T>G
|
rs1553872742
|
|
NM_130837.3(OPA1):c.800_801del (p.Lys267fs)
|
rs794727804
|
|
NM_130837.3(OPA1):c.804_805del (p.Lys269fs)
|
rs863224142
|
|
NM_130839.5(UBE3A):c.1237G>T (p.Glu413Ter)
|
rs886043612
|
|
NM_130839.5(UBE3A):c.1607_1608delinsTGCTAGACAA (p.Arg536fs)
|
rs398124438
|
|
NM_130839.5(UBE3A):c.1822_1823del (p.Gln608fs)
|
rs794727738
|
|
NM_130839.5(UBE3A):c.2563_2566del (p.Leu855fs)
|
rs398124440
|
|
NM_130839.5(UBE3A):c.546_547insCT (p.Glu183fs)
|
rs786200996
|
|
NM_133433.4(NIPBL):c.133C>T (p.Arg45Ter)
|
rs80358367
|
|
NM_133433.4(NIPBL):c.1885C>T (p.Arg629Ter)
|
rs587783892
|
|
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs)
|
rs398124465
|
|
NM_133433.4(NIPBL):c.2602C>T (p.Arg868Ter)
|
rs398124466
|
|
NM_133433.4(NIPBL):c.2626dup (p.Asp876fs)
|
rs398124467
|
|
NM_133433.4(NIPBL):c.3084dup (p.Lys1029Ter)
|
rs1561119439
|
|
NM_133433.4(NIPBL):c.3855+2T>C
|
rs886043046
|
|
NM_133433.4(NIPBL):c.4321G>T (p.Val1441Leu)
|
rs727503769
|
|
NM_133433.4(NIPBL):c.4760_4763del (p.Ser1586_Leu1587insTer)
|
rs1554024009
|
|
NM_133433.4(NIPBL):c.5440C>T (p.Arg1814Ter)
|
rs80358362
|
|
NM_133433.4(NIPBL):c.5808+2T>G
|
rs794727556
|
|
NM_133433.4(NIPBL):c.592del (p.His198fs)
|
rs886043629
|
|
NM_133433.4(NIPBL):c.6082C>T (p.Gln2028Ter)
|
rs886044351
|
|
NM_133433.4(NIPBL):c.6108+1G>C
|
rs587783994
|
|
NM_133433.4(NIPBL):c.6701T>G (p.Leu2234Ter)
|
rs727504047
|
|
NM_133433.4(NIPBL):c.7047T>G (p.Tyr2349Ter)
|
rs398124470
|
|
NM_133433.4(NIPBL):c.7219C>T (p.Arg2407Ter)
|
rs398124471
|
|
NM_133433.4(NIPBL):c.771+1G>A
|
rs587784048
|
|
NM_133433.4(NIPBL):c.8377C>T (p.Arg2793Ter)
|
rs398124474
|
|
NM_133433.4(NIPBL):c.927delinsACA (p.Asp309fs)
|
rs1561101302
|
|
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter)
|
rs398124475
|
|
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter)
|
rs769559267
|
|
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter)
|
rs760426769
|
|
NM_138694.4(PKHD1):c.1602+1G>A
|
rs398124476
|
|
NM_138694.4(PKHD1):c.1694-1G>A
|
rs398124477
|
|
NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu)
|
rs1057517158
|
|
NM_138694.4(PKHD1):c.2407+1G>A
|
rs398124479
|
|
NM_138694.4(PKHD1):c.2452C>T (p.Gln818Ter)
|
rs398124480
|
|
NM_138694.4(PKHD1):c.2827_2828del (p.Asp943fs)
|
rs398124481
|
|
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs)
|
rs1057516762
|
|
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs)
|
rs398124484
|
|
NM_138694.4(PKHD1):c.391-1G>C
|
rs398124485
|
|
NM_138694.4(PKHD1):c.4118dup (p.Met1373fs)
|
rs752305132
|
|
NM_138694.4(PKHD1):c.4415delinsTATTCCCC (p.Cys1472fs)
|
rs398124486
|
|
NM_138694.4(PKHD1):c.4733del (p.Tyr1578fs)
|
rs727504087
|
|
NM_138694.4(PKHD1):c.5236+1G>A
|
rs398124487
|
|
NM_138694.4(PKHD1):c.5325_5326del (p.Val1776fs)
|
rs794727572
|
|
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs)
|
rs771180444
|
|
NM_138694.4(PKHD1):c.602+1G>A
|
rs1554223950
|
|
NM_138694.4(PKHD1):c.6499C>T (p.Gln2167Ter)
|
rs368263958
|
|
NM_138694.4(PKHD1):c.6866-2_6866-1delinsGA
|
rs1562581286
|
|
NM_138694.4(PKHD1):c.765C>G (p.Tyr255Ter)
|
rs794727037
|
|
NM_138694.4(PKHD1):c.7719dup (p.Met2574fs)
|
rs797044745
|
|
NM_138694.4(PKHD1):c.7967_7968del (p.Thr2656fs)
|
rs886043593
|
|
NM_138694.4(PKHD1):c.8190del (p.Glu2731fs)
|
rs886042676
|
|
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter)
|
rs398124498
|
|
NM_138694.4(PKHD1):c.881-1G>A
|
rs1554220431
|
|
NM_138694.4(PKHD1):c.930del (p.Thr311fs)
|
rs398124501
|
|
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs)
|
rs797045101
|
|
NM_138715.3(MSR1):c.1033+1G>C
|
rs1554466908
|
|
NM_138927.4(SON):c.1579_1613del (p.His527fs)
|
rs1569052840
|
|
NM_139058.3(ARX):c.1111C>T (p.Arg371Ter)
|
rs587783182
|
|
NM_139058.3(ARX):c.1151_1152del (p.Arg384fs)
|
rs398124506
|
|
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)
|
rs387906492
|
|
NM_139058.3(ARX):c.30C>A (p.Cys10Ter)
|
rs794726959
|
|
NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup)
|
rs398124510
|
|
NM_139058.3(ARX):c.614_642del (p.Leu205fs)
|
rs886043728
|
|
NM_139058.3(ARX):c.790del (p.Arg264fs)
|
rs886043552
|
|
NM_139125.4(MASP1):c.1779G>A (p.Trp593Ter)
|
rs549330397
|
|
NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg)
|
rs104894490
|
|
NM_144997.7(FLCN):c.1060C>T (p.Gln354Ter)
|
rs398124523
|
|
NM_144997.7(FLCN):c.1117C>T (p.Gln373Ter)
|
rs398124524
|
|
NM_144997.7(FLCN):c.1179del (p.Met394fs)
|
rs398124525
|
|
NM_144997.7(FLCN):c.1203dup (p.Ile402fs)
|
rs398124526
|
|
NM_144997.7(FLCN):c.1285del (p.His429fs)
|
rs80338682
|
|
NM_144997.7(FLCN):c.1285dup (p.His429fs)
|
rs80338682
|
|
NM_144997.7(FLCN):c.1305del (p.Phe435fs)
|
rs398124527
|
|
NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter)
|
rs398124530
|
|
NM_144997.7(FLCN):c.1597C>T (p.Gln533Ter)
|
rs398124532
|
|
NM_144997.7(FLCN):c.250-2A>G
|
rs398124533
|
|
NM_144997.7(FLCN):c.296del (p.Asp99fs)
|
rs398124534
|
|
NM_144997.7(FLCN):c.319_320delinsCAC (p.Val107fs)
|
rs398124535
|
|
NM_144997.7(FLCN):c.346C>T (p.Gln116Ter)
|
rs398124536
|
|
NM_144997.7(FLCN):c.610_611delinsTA (p.Ala204Ter)
|
rs398124538
|
|
NM_144997.7(FLCN):c.828_829dup (p.Ala277fs)
|
rs398124539
|
|
NM_144997.7(FLCN):c.83dup (p.Leu29fs)
|
rs398124540
|
|
NM_144997.7(FLCN):c.890_893del (p.Glu297fs)
|
rs398124541
|
|
NM_144997.7(FLCN):c.927_954dup (p.Gly319fs)
|
rs398124542
|
|
NM_145239.3(PRRT2):c.649del (p.Arg217fs)
|
rs587778771
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs)
|
rs750396637
|
|
NM_147127.5(EVC2):c.850del (p.Thr284fs)
|
rs886044525
|
|
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys)
|
rs121964854
|
|
NM_152263.4(TPM3):c.547C>T (p.Arg183Ter)
|
rs727504181
|
|
NM_152281.3(GORAB):c.420-2A>T
|
rs1558006532
|
|
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)
|
|
|
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
|
|
|
NM_152443.3(RDH12):c.806_810del (p.Ala269fs)
|
rs386834261
|
|
NM_152564.5(VPS13B):c.11378C>G (p.Ser3793Ter)
|
rs794727771
|
|
NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter)
|
rs140936527
|
|
NM_152564.5(VPS13B):c.5005dup (p.Ser1669fs)
|
rs886042930
|
|
NM_152564.5(VPS13B):c.8870T>A (p.Leu2957Ter)
|
rs727504219
|
|
NM_152594.3(SPRED1):c.1015C>T (p.Gln339Ter)
|
rs1566876895
|
|
NM_152618.3(BBS12):c.1704G>A (p.Trp568Ter)
|
rs747904021
|
|
NM_152743.4(BRAT1):c.638dup (p.Val214fs)
|
rs730880324
|
|
NM_153006.3(NAGS):c.1323C>G (p.Tyr441Ter)
|
rs886042831
|
|
NM_153240.5(NPHP3):c.1101_1102insATTTTATTATT (p.His368fs)
|
rs1560014115
|
|
NM_153240.5(NPHP3):c.1888-2A>G
|
rs886921615
|
|
NM_153240.5(NPHP3):c.1888-7_1893del
|
rs1553773296
|
|
NM_153240.5(NPHP3):c.273del (p.Glu90_Tyr91insTer)
|
rs758558609
|
|
NM_153240.5(NPHP3):c.2994G>A (p.Trp998Ter)
|
rs794727349
|
|
NM_153240.5(NPHP3):c.3570+2T>A
|
rs1553771772
|
|
NM_153240.5(NPHP3):c.406del (p.Thr136fs)
|
rs1379989124
|
|
NM_153240.5(NPHP3):c.434_437del (p.Glu145fs)
|
rs763300393
|
|
NM_153240.5(NPHP3):c.634dup (p.Glu212fs)
|
rs747052534
|
|
NM_153603.4(COG7):c.323dup (p.Leu108fs)
|
rs797044712
|
|
NM_153676.4(USH1C):c.238dup (p.Arg80fs)
|
rs397515359
|
|
NM_153704.6(TMEM67):c.2410G>T (p.Glu804Ter)
|
rs1554558363
|
|
NM_153717.3(EVC):c.2304+2T>C
|
rs1553892090
|
|
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys)
|
rs60458016
|
|
NM_170707.4(LMNA):c.1130G>A (p.Arg377His)
|
rs61672878
|
|
NM_170707.4(LMNA):c.1142_1157+1del
|
rs1553265755
|
|
NM_170707.4(LMNA):c.1157G>A (p.Arg386Lys)
|
rs267607545
|
|
NM_170707.4(LMNA):c.116A>G (p.Asn39Ser)
|
rs57983345
|
|
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)
|
rs58932704
|
|
NM_170707.4(LMNA):c.1488+1G>A
|
rs267607640
|
|
NM_170707.4(LMNA):c.1582A>C (p.Thr528Pro)
|
rs1187380696
|
|
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys)
|
rs57629361
|
|
NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg)
|
rs57629361
|
|
NM_170707.4(LMNA):c.1609-1G>A
|
rs111569862
|
|
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys)
|
rs56984562
|
|
NM_170707.4(LMNA):c.1622G>A (p.Arg541His)
|
rs61444459
|
|
NM_170707.4(LMNA):c.1622G>C (p.Arg541Pro)
|
rs61444459
|
|
NM_170707.4(LMNA):c.162_163del (p.Asn56fs)
|
rs879253932
|
|
NM_170707.4(LMNA):c.1824C>T (p.Gly608=)
|
rs58596362
|
|
NM_170707.4(LMNA):c.48del (p.Ser17fs)
|
rs794726921
|
|
NM_170707.4(LMNA):c.65_66delinsT (p.Ser22fs)
|
rs886043745
|
|
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)
|
rs59332535
|
|
NM_170707.4(LMNA):c.886_887insA (p.Arg296fs)
|
rs797044758
|
|
NM_170707.4(LMNA):c.908_909del (p.Ser303fs)
|
rs59684335
|
|
NM_170707.4(LMNA):c.94_96del (p.Lys32del)
|
rs60872029
|
|
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter)
|
rs267607554
|
|
NM_172107.4(KCNQ2):c.102del (p.Thr35fs)
|
rs1568986619
|
|
NM_172107.4(KCNQ2):c.1118+2T>C
|
rs886042605
|
|
NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs)
|
rs886041339
|
|
NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter)
|
rs118192226
|
|
NM_172107.4(KCNQ2):c.144del (p.Lys49fs)
|
rs1555881809
|
|
NM_172107.4(KCNQ2):c.1820del (p.Gly607fs)
|
rs1555851513
|
|
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp)
|
rs118192203
|
|
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met)
|
rs727503974
|
|
NM_172250.3(MMAA):c.1034del (p.Phe345fs)
|
rs398124552
|
|
NM_172337.2(OTX2):c.402dup (p.Ser135Leufs)
|
rs1555350223
|
|
NM_173076.3(ABCA12):c.596G>A (p.Trp199Ter)
|
rs1187032187
|
|
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)
|
rs606231128
|
|
NM_173660.5(DOK7):c.957del (p.Lys320fs)
|
rs794727884
|
|
NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs)
|
rs879255251
|
|
NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer)
|
rs773139166
|
|
NM_176824.3(BBS7):c.1371+2T>C
|
rs1560647130
|
|
NM_176824.3(BBS7):c.649dup (p.Ala217fs)
|
rs886044668
|
|
NM_176824.3(BBS7):c.712_715del (p.Arg238fs)
|
rs760165634
|
|
NM_181426.2(CCDC39):c.1034+2T>A
|
rs1210953680
|
|
NM_181426.2(CCDC39):c.2226C>A (p.Tyr742Ter)
|
rs772219642
|
|
NM_181486.4(TBX5):c.756-1G>C
|
rs1565927906
|
|
NM_181705.4(LYRM7):c.37del (p.Thr13fs)
|
rs869025605
|
|
NM_181882.3(PRX):c.2787del (p.Lys930fs)
|
rs754521978
|
|
NM_181882.3(PRX):c.2853dup (p.Gly952fs)
|
rs1568704829
|
|
NM_182961.3(SYNE1):c.9973delG (p.Ala3325Leufs)
|
rs1554550339
|
|
NM_182961.4(SYNE1):c.10145+1G>A
|
rs1563391747
|
|
NM_182961.4(SYNE1):c.10443+1G>T
|
rs886042799
|
|
NM_182961.4(SYNE1):c.12121C>T (p.Arg4041Ter)
|
rs886043963
|
|
NM_182961.4(SYNE1):c.16390-2A>C
|
rs759460806
|
|
NM_182961.4(SYNE1):c.17816_17820del (p.Asp5939fs)
|
rs794727986
|
|
NM_182961.4(SYNE1):c.18740_18741del (p.Leu6247fs)
|
rs886042657
|
|
NM_182961.4(SYNE1):c.1912C>T (p.Gln638Ter)
|
rs1554756035
|
|
NM_182961.4(SYNE1):c.19514dup (p.Tyr6505Ter)
|
rs886043012
|
|
NM_182961.4(SYNE1):c.21052G>T (p.Glu7018Ter)
|
rs1554246434
|
|
NM_182961.4(SYNE1):c.21934C>T (p.Gln7312Ter)
|
rs886042421
|
|
NM_182961.4(SYNE1):c.22709_22763del (p.Glu7570fs)
|
rs1554558620
|
|
NM_182961.4(SYNE1):c.23020-1G>A
|
rs1554544827
|
|
NM_182961.4(SYNE1):c.23071_23099del (p.Thr7691fs)
|
rs886043645
|
|
NM_182961.4(SYNE1):c.23131C>T (p.Gln7711Ter)
|
rs119103244
|
|
NM_182961.4(SYNE1):c.23979-2A>G
|
rs1362058277
|
|
NM_182961.4(SYNE1):c.25119+1G>A
|
rs1164612098
|
|
NM_182961.4(SYNE1):c.253C>T (p.Arg85Ter)
|
rs768958602
|
|
NM_182961.4(SYNE1):c.4372_4373del (p.Leu1458fs)
|
rs794727577
|
|
NM_182961.4(SYNE1):c.639del (p.His214fs)
|
rs1412791793
|
|
NM_182961.4(SYNE1):c.8866C>T (p.Gln2956Ter)
|
rs886042954
|
|
NM_182961.4(SYNE1):c.8890C>T (p.Gln2964Ter)
|
rs1554588688
|
|
NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter)
|
rs386834234
|
|
NM_183050.4(BCKDHB):c.342T>G (p.Tyr114Ter)
|
rs398124573
|
|
NM_183050.4(BCKDHB):c.344-1G>A
|
rs398124574
|
|
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg)
|
rs751953459
|
|
NM_183050.4(BCKDHB):c.488A>T (p.Glu163Val)
|
rs398124577
|
|
NM_183050.4(BCKDHB):c.592_593del (p.Gln198fs)
|
rs398124586
|
|
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer)
|
rs398124587
|
|
NM_183050.4(BCKDHB):c.748G>T (p.Glu250Ter)
|
rs398124592
|
|
NM_183050.4(BCKDHB):c.840+2T>G
|
rs398124596
|
|
NM_183050.4(BCKDHB):c.93_103del (p.Ala32fs)
|
rs398124601
|
|
NM_183050.4(BCKDHB):c.952-1G>A
|
rs398124602
|
|
NM_183075.3(CYP2U1):c.786_789del (p.Ile261_Cys262insTer)
|
rs1560701036
|
|
NM_194318.4(B3GLCT):c.1065-1G>A
|
rs371904655
|
|
NM_194318.4(B3GLCT):c.1067_1082del (p.Ile356fs)
|
rs794727108
|
|
NM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter)
|
rs267607203
|
|
NM_194454.3(KRIT1):c.715C>T (p.Gln239Ter)
|
rs886043300
|
|
NM_198129.4(LAMA3):c.8644del (p.Arg2882fs)
|
rs1555745215
|
|
NM_198239.2(CCN6):c.246del (p.Glu84fs)
|
rs797044438
|
|
NM_198428.3(BBS9):c.1167del (p.Ile391fs)
|
rs886042258
|
|
NM_198428.3(BBS9):c.1789+1G>A
|
rs201938124
|
|
NM_198586.3(NHLRC1):c.664G>T (p.Glu222Ter)
|
rs794726964
|
|
NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter)
|
rs115352681
|
|
NM_201253.3(CRB1):c.3383del (p.Ile1128fs)
|
rs794727980
|
|
NM_201253.3(CRB1):c.799_800delinsA (p.Ala267fs)
|
rs886043587
|
|
NM_201384.3(PLEC):c.11287_11288del (p.Ser3763fs)
|
rs886044796
|
|
NM_201384.3(PLEC):c.2328_2329insGT (p.Tyr777fs)
|
rs1554714095
|
|
NM_201384.3(PLEC):c.4255C>T (p.Gln1419Ter)
|
rs886044836
|
|
NM_201384.3(PLEC):c.7180C>T (p.Arg2394Ter)
|
rs886044894
|
|
NM_201384.3(PLEC):c.9000_9001delinsTT (p.Gln3001Ter)
|
rs1554683108
|
|
NM_201384.3(PLEC):c.9558_9559del (p.Glu3188fs)
|
rs1554681167
|
|
NM_201548.5(CERKL):c.1347T>A (p.Tyr449Ter)
|
rs770284500
|
|
NM_203475.3(PORCN):c.250del (p.Leu84fs)
|
rs398124617
|
|
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs)
|
rs774573692
|
|
NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs)
|
rs397517964
|
|
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs)
|
rs779791079
|
|
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs)
|
rs398124618
|
|
NM_206933.4(USH2A):c.13695T>G (p.Tyr4565Ter)
|
rs1553252343
|
|
NM_206933.4(USH2A):c.14175G>A (p.Trp4725Ter)
|
rs886042722
|
|
NM_206933.4(USH2A):c.14502_14503del (p.Pro4835fs)
|
rs794727830
|
|
NM_206933.4(USH2A):c.1679del (p.Pro560fs)
|
rs773539640
|
|
NM_206933.4(USH2A):c.3086del (p.Gly1029fs)
|
rs886044060
|
|
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs)
|
rs886039450
|
|
NM_206933.4(USH2A):c.3296_3297del (p.Thr1099fs)
|
rs748369458
|
|
NM_206933.4(USH2A):c.4902_4908delinsTC (p.Asn1635fs)
|
rs1558251742
|
|
NM_206933.4(USH2A):c.5167+1G>T
|
rs794727408
|
|
NM_206933.4(USH2A):c.5877del (p.Ser1961fs)
|
rs727505343
|
|
NM_206933.4(USH2A):c.6159del (p.Glu2054fs)
|
rs769838859
|
|
NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter)
|
rs794727579
|
|
NM_206933.4(USH2A):c.920_923dup (p.His308fs)
|
rs397518043
|
|
NM_206933.4(USH2A):c.9390G>A (p.Trp3130Ter)
|
rs886042766
|
|
NM_206937.2(LIG4):c.1751_1755del (p.Ile584fs)
|
rs770128720
|
|
NM_206937.2(LIG4):c.1904del (p.Lys635fs)
|
rs375554612
|
|
NM_206965.2(FTCD):c.1366dup (p.Glu456fs)
|
rs777099958
|
|
NM_206965.2(FTCD):c.990dup (p.Pro331fs)
|
rs398124234
|
|
NM_207352.4(CYP4V2):c.221_222del (p.Phe74fs)
|
rs1561430786
|
|
NM_207352.4(CYP4V2):c.802-8_810delinsGC
|
rs207482233
|
|
NM_207361.6(FREM2):c.5954dup (p.Met1985fs)
|
rs886043213
|
|
NM_213599.3(ANO5):c.108_109del (p.Glu36fs)
|
rs886044020
|
|
NM_213599.3(ANO5):c.1207C>T (p.Gln403Ter)
|
rs1554930267
|
|
NM_213599.3(ANO5):c.1516del (p.Ser506fs)
|
rs1302414683
|
|
NM_213599.3(ANO5):c.1520del (p.Phe507fs)
|
rs794727158
|
|
NM_213599.3(ANO5):c.1627dup (p.Met543fs)
|
rs281865480
|
|
NM_213599.3(ANO5):c.1631-12_1631-2del
|
rs886043327
|
|
NM_213599.3(ANO5):c.1639C>T (p.Arg547Ter)
|
rs747719953
|
|
NM_213599.3(ANO5):c.1709C>G (p.Ser570Ter)
|
rs765262083
|
|
NM_213599.3(ANO5):c.1767C>A (p.Tyr589Ter)
|
rs188150039
|
|
NM_213599.3(ANO5):c.191dup (p.Asn64fs)
|
rs137854521
|
|
NM_213599.3(ANO5):c.1992dup (p.Gly665fs)
|
rs1554933716
|
|
NM_213599.3(ANO5):c.2004del (p.Leu669fs)
|
rs886043172
|
|
NM_213599.3(ANO5):c.201_205del (p.Ser67fs)
|
rs794727745
|
|
NM_213599.3(ANO5):c.2172_2178del (p.Ala724_His725insTer)
|
rs794727231
|
|
NM_213599.3(ANO5):c.2235+1G>A
|
rs886042442
|
|
NM_213599.3(ANO5):c.2446G>T (p.Glu816Ter)
|
rs145127621
|
|
NM_213599.3(ANO5):c.304_308del (p.Lys102fs)
|
rs776859202
|
|
NM_213599.3(ANO5):c.306del (p.Glu103fs)
|
rs1564922516
|
|
NM_213599.3(ANO5):c.835C>T (p.Arg279Ter)
|
rs1564930625
|
|
NM_213599.3(ANO5):c.889G>T (p.Gly297Ter)
|
rs886043074
|
|
NM_213599.3(ANO5):c.989dup (p.Leu330fs)
|
rs398124626
|
|
NM_213622.4(STAMBP):c.106_108delinsAA (p.Tyr36fs)
|
rs886043494
|
|
Single allele
|
|
|