NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)
|
rs6445
|
0.00530
|
NM_000500.9(CYP21A2):c.719T>A (p.Met240Lys)
|
rs6476
|
0.00523
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_000371.4(TTR):c.424G>A (p.Val142Ile)
|
rs76992529
|
0.00501
|
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)
|
rs33930165
|
0.00414
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
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_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
0.00181
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_000044.6(AR):c.1174C>T (p.Pro392Ser)
|
rs201934623
|
0.00163
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)
|
rs6475
|
0.00117
|
NM_001083116.3(PRF1):c.50del (p.Leu17fs)
|
rs147035858
|
0.00100
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00081
|
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
|
rs80338945
|
0.00066
|
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu)
|
rs9378251
|
0.00055
|
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)
|
rs28933693
|
0.00046
|
NM_001015880.2(PAPSS2):c.809G>A (p.Gly270Asp)
|
rs138943074
|
0.00038
|
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)
|
rs75541969
|
0.00033
|
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala)
|
rs143139258
|
0.00029
|
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)
|
rs11549407
|
0.00026
|
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)
|
rs137853027
|
0.00026
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)
|
rs80034486
|
0.00016
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
NM_153700.2(STRC):c.4402C>T (p.Arg1468Ter)
|
rs377480477
|
0.00011
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
NM_000492.4(CFTR):c.1705T>G (p.Tyr569Asp)
|
rs397508276
|
0.00010
|
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)
|
rs28940298
|
0.00010
|
NM_000153.4(GALC):c.1586C>T (p.Thr529Met)
|
rs200960659
|
0.00009
|
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)
|
rs140342925
|
0.00009
|
NM_006371.5(CRTAP):c.826C>T (p.Gln276Ter)
|
rs72659361
|
0.00009
|
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp)
|
rs7769409
|
0.00007
|
NM_000113.3(TOR1A):c.863G>A (p.Arg288Gln)
|
rs727502811
|
0.00006
|
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)
|
rs28940578
|
0.00006
|
NM_000492.4(CFTR):c.169T>C (p.Trp57Arg)
|
rs397508272
|
0.00006
|
NM_000518.5(HBB):c.79G>A (p.Glu27Lys)
|
rs33950507
|
0.00006
|
NM_000232.5(SGCB):c.1_2del (p.Met1fs)
|
rs886042503
|
0.00004
|
NM_000371.4(TTR):c.148G>A (p.Val50Met)
|
rs28933979
|
0.00004
|
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter)
|
rs121913572
|
0.00004
|
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)
|
rs397508442
|
0.00004
|
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter)
|
rs74767530
|
0.00004
|
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)
|
rs28897672
|
0.00004
|
NM_058216.3(RAD51C):c.774del (p.Thr259fs)
|
rs754367349
|
0.00004
|
NM_000038.6(APC):c.70C>T (p.Arg24Ter)
|
rs145945630
|
0.00003
|
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)
|
rs11571658
|
0.00003
|
NM_000059.4(BRCA2):c.9097_9098insT (p.Thr3033fs)
|
rs1555288494
|
0.00003
|
NM_000426.4(LAMA2):c.3976C>T (p.Arg1326Ter)
|
rs398123373
|
0.00003
|
NM_000518.4(HBB):c.404T>C (p.Val135Ala)
|
rs33966761
|
0.00003
|
NM_000518.5(HBB):c.51del (p.Lys18fs)
|
rs35662066
|
0.00003
|
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)
|
rs267608161
|
0.00003
|
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)
|
rs529008617
|
0.00003
|
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter)
|
rs104894176
|
0.00003
|
NM_001852.4(COL9A2):c.186G>A (p.Pro62=)
|
rs1085307973
|
0.00003
|
NM_001972.4(ELANE):c.659G>A (p.Arg220Gln)
|
rs137854445
|
0.00003
|
NM_004004.6(GJB2):c.299_300del (p.His100fs)
|
rs111033204
|
0.00003
|
NM_005787.6(ALG3):c.349C>T (p.Arg117Ter)
|
rs753238253
|
0.00003
|
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)
|
rs80358785
|
0.00002
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser)
|
rs77722678
|
0.00002
|
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)
|
rs63749843
|
0.00002
|
NM_000518.5(HBB):c.52A>T (p.Lys18Ter)
|
rs33986703
|
0.00002
|
NM_001015880.2(PAPSS2):c.712C>T (p.Arg238Ter)
|
rs541008862
|
0.00002
|
NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His)
|
rs200666300
|
0.00002
|
NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter)
|
rs746068882
|
0.00002
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter)
|
rs767745816
|
0.00002
|
NM_022173.4(TIA1):c.1150G>A (p.Glu384Lys)
|
rs747068278
|
0.00002
|
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs)
|
rs587776416
|
0.00002
|
NM_000044.6(AR):c.1789G>A (p.Ala597Thr)
|
rs137852569
|
0.00001
|
NM_000044.6(AR):c.1847G>A (p.Arg616His)
|
rs754201976
|
0.00001
|
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter)
|
rs80358533
|
0.00001
|
NM_000059.4(BRCA2):c.6065C>G (p.Ser2022Ter)
|
rs80358843
|
0.00001
|
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter)
|
rs80358972
|
0.00001
|
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter)
|
rs80358981
|
0.00001
|
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln)
|
rs80359076
|
0.00001
|
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)
|
rs28897756
|
0.00001
|
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp)
|
rs45580035
|
0.00001
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
NM_000142.5(FGFR3):c.1612A>G (p.Ile538Val)
|
rs80053154
|
0.00001
|
NM_000153.4(GALC):c.1591C>T (p.Arg531Cys)
|
rs749893889
|
0.00001
|
NM_000179.3(MSH6):c.2779dup (p.Ile927fs)
|
rs587782277
|
0.00001
|
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter)
|
rs63749999
|
0.00001
|
NM_000235.4(LIPA):c.260G>T (p.Gly87Val)
|
rs587778878
|
0.00001
|
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)
|
rs63751275
|
0.00001
|
NM_000249.4(MLH1):c.298C>T (p.Arg100Ter)
|
rs63751221
|
0.00001
|
NM_000492.4(CFTR):c.1013C>T (p.Thr338Ile)
|
rs77409459
|
0.00001
|
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr)
|
rs397508224
|
0.00001
|
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter)
|
rs397508296
|
0.00001
|
NM_000500.9(CYP21A2):c.1096C>T (p.His366Tyr)
|
rs1330554738
|
0.00001
|
NM_000500.9(CYP21A2):c.710T>A (p.Ile237Asn)
|
rs1554299737
|
0.00001
|
NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu)
|
rs12530380
|
0.00001
|
NM_000518.5(HBB):c.25_26del (p.Lys9fs)
|
rs35497102
|
0.00001
|
NM_000546.6(TP53):c.375G>A (p.Thr125=)
|
rs55863639
|
0.00001
|
NM_000760.4(CSF3R):c.2215C>T (p.Gln739Ter)
|
rs1650335810
|
0.00001
|
NM_001130987.2(DYSF):c.2864+1G>A
|
rs199954546
|
0.00001
|
NM_001244710.2(GFPT1):c.719G>A (p.Trp240Ter)
|
rs1574066341
|
0.00001
|
NM_001267550.2(TTN):c.104399del (p.Arg34800fs)
|
rs747662439
|
0.00001
|
NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter)
|
rs104894267
|
0.00001
|
NM_001370259.2(MEN1):c.466G>A (p.Gly156Ser)
|
rs1085307471
|
0.00001
|
NM_003764.4(STX11):c.173T>C (p.Leu58Pro)
|
rs431905512
|
0.00001
|
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)
|
rs397518413
|
0.00001
|
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys)
|
rs121913499
|
0.00001
|
NM_005896.4(IDH1):c.395G>A (p.Arg132His)
|
rs121913500
|
0.00001
|
NM_006260.5(DNAJC3):c.1243C>T (p.Arg415Ter)
|
rs768498039
|
0.00001
|
NM_006796.3(AFG3L2):c.2105G>A (p.Arg702Gln)
|
rs151344523
|
0.00001
|
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)
|
rs730881701
|
0.00001
|
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)
|
rs80356898
|
0.00001
|
NM_007294.4(BRCA1):c.2475del (p.Asp825fs)
|
rs80357970
|
0.00001
|
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter)
|
rs62625308
|
0.00001
|
NM_007294.4(BRCA1):c.4243del (p.Glu1415fs)
|
rs80357981
|
0.00001
|
NM_007294.4(BRCA1):c.4675G>A (p.Glu1559Lys)
|
rs80356988
|
0.00001
|
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)
|
rs80357433
|
0.00001
|
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter)
|
rs80356962
|
0.00001
|
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)
|
rs41293465
|
0.00001
|
NM_007294.4(BRCA1):c.5558dup (p.Tyr1853Ter)
|
rs80357629
|
0.00001
|
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)
|
rs75076352
|
0.00001
|
NM_020975.6(RET):c.2370G>T (p.Leu790Phe)
|
rs75030001
|
0.00001
|
NM_020975.6(RET):c.2671T>G (p.Ser891Ala)
|
rs75234356
|
0.00001
|
NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter)
|
rs180177103
|
0.00001
|
NM_144997.7(FLCN):c.764A>C (p.His255Pro)
|
rs879255665
|
0.00001
|
NM_198525.3(KIF7):c.1019dup (p.Asn341fs)
|
rs1964065704
|
0.00001
|
NM_000023.4(SGCA):c.348_352dup (p.Gln118fs)
|
rs752640127
|
|
NM_000038.6(APC):c.1001T>A (p.Leu334Ter)
|
rs1762812907
|
|
NM_000038.6(APC):c.1085del (p.Gly362fs)
|
rs1762829672
|
|
NM_000038.6(APC):c.1100_1101del (p.Ser367fs)
|
rs387906237
|
|
NM_000038.6(APC):c.1192_1193del (p.Lys398fs)
|
rs387906238
|
|
NM_000038.6(APC):c.1343dup (p.Ala449fs)
|
rs1554080695
|
|
NM_000038.6(APC):c.1393dup (p.Ala465fs)
|
rs1763189862
|
|
NM_000038.6(APC):c.1548G>C (p.Lys516Asn)
|
rs879254090
|
|
NM_000038.6(APC):c.1620dup (p.Gln541fs)
|
rs1131691555
|
|
NM_000038.6(APC):c.1897G>T (p.Glu633Ter)
|
rs1764730705
|
|
NM_000038.6(APC):c.2006T>G (p.Leu669Ter)
|
rs1765088338
|
|
NM_000038.6(APC):c.2413C>T (p.Arg805Ter)
|
rs587779783
|
|
NM_000038.6(APC):c.2555T>A (p.Leu852Ter)
|
rs1405022793
|
|
NM_000038.6(APC):c.2626C>T (p.Arg876Ter)
|
rs121913333
|
|
NM_000038.6(APC):c.2677G>T (p.Glu893Ter)
|
rs199740875
|
|
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter)
|
rs137854575
|
|
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer)
|
rs587779352
|
|
NM_000038.6(APC):c.3214del (p.Ser1072fs)
|
rs1765366028
|
|
NM_000038.6(APC):c.3358G>T (p.Gly1120Ter)
|
rs1765404132
|
|
NM_000038.6(APC):c.3925G>T (p.Glu1309Ter)
|
rs1321583762
|
|
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs)
|
rs121913224
|
|
NM_000038.6(APC):c.423G>T (p.Arg141Ser)
|
rs863224458
|
|
NM_000038.6(APC):c.481C>T (p.Gln161Ter)
|
rs876658325
|
|
NM_000038.6(APC):c.4901del (p.Pro1634fs)
|
rs1057518901
|
|
NM_000044.6(AR):c.1460del (p.Pro487fs)
|
rs1929773822
|
|
NM_000044.6(AR):c.1462C>T (p.Gln488Ter)
|
rs1929774367
|
|
NM_000044.6(AR):c.1822C>T (p.Arg608Ter)
|
rs886041128
|
|
NM_000044.6(AR):c.1833T>A (p.Asn611Lys)
|
rs2075964906
|
|
NM_000044.6(AR):c.202C>T (p.Gln68Ter)
|
rs1929664860
|
|
NM_000044.6(AR):c.2117A>G (p.Asn706Ser)
|
rs925822435
|
|
NM_000044.6(AR):c.2296G>A (p.Ala766Thr)
|
rs1555996863
|
|
NM_000044.6(AR):c.2299C>G (p.Pro767Ala)
|
rs1555996867
|
|
NM_000044.6(AR):c.2301del (p.Asp768fs)
|
rs886041131
|
|
NM_000044.6(AR):c.2495G>A (p.Arg832Gln)
|
rs1386577803
|
|
NM_000044.6(AR):c.2521C>T (p.Arg841Cys)
|
rs137852577
|
|
NM_000044.6(AR):c.2522G>A (p.Arg841His)
|
rs9332969
|
|
NM_000051.4(ATM):c.790del (p.Tyr264fs)
|
rs587781978
|
|
NM_000051.4(ATM):c.8655dup (p.Val2886fs)
|
rs753961188
|
|
NM_000059.4(BRCA2):c.10G>T (p.Gly4Ter)
|
rs397507571
|
|
NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs)
|
rs80359277
|
|
NM_000059.4(BRCA2):c.1499del (p.Gly500fs)
|
rs397507591
|
|
NM_000059.4(BRCA2):c.1773_1776del (p.Ile591fs)
|
rs80359304
|
|
NM_000059.4(BRCA2):c.1813del (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.1818_1819del (p.Lys607fs)
|
rs2072423291
|
|
NM_000059.4(BRCA2):c.2372C>G (p.Ser791Ter)
|
rs397507624
|
|
NM_000059.4(BRCA2):c.2376C>G (p.Tyr792Ter)
|
rs80358503
|
|
NM_000059.4(BRCA2):c.2476G>T (p.Glu826Ter)
|
rs1566226803
|
|
NM_000059.4(BRCA2):c.2653_2656del (p.Asp885fs)
|
rs80359340
|
|
NM_000059.4(BRCA2):c.3523C>T (p.Gln1175Ter)
|
rs886040480
|
|
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer)
|
rs80359391
|
|
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs)
|
rs80359403
|
|
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)
|
rs80359405
|
|
NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs)
|
rs397515636
|
|
NM_000059.4(BRCA2):c.4638del (p.Phe1546fs)
|
rs80359462
|
|
NM_000059.4(BRCA2):c.4677del (p.Phe1559fs)
|
rs1064794708
|
|
NM_000059.4(BRCA2):c.480_489del (p.Gly162fs)
|
rs2072346061
|
|
NM_000059.4(BRCA2):c.4876_4877del (p.Asn1626fs)
|
rs80359470
|
|
NM_000059.4(BRCA2):c.5146_5149del (p.Tyr1716fs)
|
rs276174854
|
|
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter)
|
rs80359499
|
|
NM_000059.4(BRCA2):c.537dup (p.Ile180fs)
|
rs1566219199
|
|
NM_000059.4(BRCA2):c.538_539del (p.Ile180fs)
|
rs80359510
|
|
NM_000059.4(BRCA2):c.5425del (p.Cys1809fs)
|
rs2072529051
|
|
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs)
|
rs80359520
|
|
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)
|
rs80359530
|
|
NM_000059.4(BRCA2):c.5754_5755del (p.His1918fs)
|
rs397507803
|
|
NM_000059.4(BRCA2):c.5790dup (p.Gln1931fs)
|
rs2072538550
|
|
NM_000059.4(BRCA2):c.5823del (p.Val1942fs)
|
rs80359540
|
|
NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs)
|
rs80359543
|
|
NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter)
|
rs80358824
|
|
NM_000059.4(BRCA2):c.6058G>T (p.Glu2020Ter)
|
rs80358842
|
|
NM_000059.4(BRCA2):c.6059_6062del (p.Glu2020fs)
|
rs398122546
|
|
NM_000059.4(BRCA2):c.6318del (p.Pro2107fs)
|
rs2072552105
|
|
NM_000059.4(BRCA2):c.6393_6396del (p.Lys2131fs)
|
rs397507849
|
|
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs)
|
rs80359584
|
|
NM_000059.4(BRCA2):c.6444_6447del (p.Ile2149fs)
|
rs80359591
|
|
NM_000059.4(BRCA2):c.6444del (p.Ile2149fs)
|
rs398122557
|
|
NM_000059.4(BRCA2):c.6466_6469del (p.Ser2156fs)
|
rs80359596
|
|
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs)
|
rs80359598
|
|
NM_000059.4(BRCA2):c.6553del (p.Ala2185fs)
|
rs80359603
|
|
NM_000059.4(BRCA2):c.658_659del (p.Val220fs)
|
rs80359604
|
|
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)
|
rs80358920
|
|
NM_000059.4(BRCA2):c.7025_7026del (p.Gln2342fs)
|
rs80359634
|
|
NM_000059.4(BRCA2):c.743del (p.Ala248fs)
|
rs886040708
|
|
NM_000059.4(BRCA2):c.771_775del (p.Asn257fs)
|
rs80359671
|
|
NM_000059.4(BRCA2):c.778G>T (p.Glu260Ter)
|
rs2072387354
|
|
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys)
|
rs80359027
|
|
NM_000059.4(BRCA2):c.8195_8202del (p.Leu2732fs)
|
rs886040749
|
|
NM_000059.4(BRCA2):c.8323dup (p.Met2775fs)
|
rs276174904
|
|
NM_000059.4(BRCA2):c.8513T>G (p.Leu2838Ter)
|
rs886040779
|
|
NM_000059.4(BRCA2):c.8655dup (p.Pro2886fs)
|
rs1135401927
|
|
NM_000059.4(BRCA2):c.8673_8674del (p.Arg2892fs)
|
rs80359724
|
|
NM_000059.4(BRCA2):c.8695C>T (p.Gln2899Ter)
|
rs397507411
|
|
NM_000059.4(BRCA2):c.8796del (p.His2932fs)
|
rs766145981
|
|
NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter)
|
rs80359140
|
|
NM_000059.4(BRCA2):c.8987T>A (p.Leu2996Ter)
|
rs864622200
|
|
NM_000059.4(BRCA2):c.9109C>T (p.Gln3037Ter)
|
rs397508037
|
|
NM_000059.4(BRCA2):c.9227del (p.Gly3076fs)
|
rs397508040
|
|
NM_000059.4(BRCA2):c.9302del (p.Leu3101fs)
|
rs2073021354
|
|
NM_000059.4(BRCA2):c.9352_9353del (p.Met3118fs)
|
rs786203318
|
|
NM_000059.4(BRCA2):c.9408del (p.Thr3137fs)
|
rs80359761
|
|
NM_000059.4(BRCA2):c.9507del (p.Ile3169fs)
|
rs80359767
|
|
NM_000059.4(BRCA2):c.956dup (p.Asn319fs)
|
rs80359770
|
|
NM_000059.4(BRCA2):c.9580_9581del (p.Pro3194fs)
|
rs80359771
|
|
NM_000059.4(BRCA2):c.9682del (p.Ser3228fs)
|
rs398122618
|
|
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)
|
rs80359775
|
|
NM_000059.4(BRCA2):c.9800dup (p.Arg3268fs)
|
rs1566261027
|
|
NM_000059.4:c.476_516del
|
|
|
NM_000061.3(BTK):c.1381dup (p.Tyr461fs)
|
rs1926476996
|
|
NM_000061.3(BTK):c.1441T>A (p.Cys481Ser)
|
rs1057519826
|
|
NM_000061.3(BTK):c.1442G>C (p.Cys481Ser)
|
rs1057519825
|
|
NM_000061.3(BTK):c.1699G>T (p.Glu567Ter)
|
rs1926380816
|
|
NM_000061.3(BTK):c.1922G>A (p.Arg641His)
|
rs1926220192
|
|
NM_000061.3(BTK):c.352del (p.Glu118fs)
|
rs1926975943
|
|
NM_000061.3(BTK):c.763C>T (p.Arg255Ter)
|
rs128621193
|
|
NM_000070.3(CAPN3):c.550del (p.Thr184fs)
|
rs80338800
|
|
NM_000088.4(COL1A1):c.589G>T (p.Gly197Cys)
|
rs8179178
|
|
NM_000088.4(COL1A1):c.614dup (p.Gly206fs)
|
rs72667033
|
|
NM_000089.4(COL1A2):c.2819G>T (p.Gly940Val)
|
rs1792257312
|
|
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser)
|
rs72659319
|
|
NM_000089.4(COL1A2):c.3287G>C (p.Gly1096Ala)
|
rs72659337
|
|
NM_000090.4(COL3A1):c.2716G>A (p.Gly906Ser)
|
rs1688530172
|
|
NM_000093.5(COL5A1):c.1780C>T (p.Arg594Ter)
|
rs1554792869
|
|
NM_000095.3(COMP):c.1201G>A (p.Asp401Asn)
|
rs2055169002
|
|
NM_000127.3(EXT1):c.416del (p.Glu139fs)
|
rs1817880834
|
|
NM_000127.3(EXT1):c.719del (p.Asp240fs)
|
rs1817872593
|
|
NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser)
|
rs794728194
|
|
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)
|
rs794728195
|
|
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys)
|
rs1555398835
|
|
NM_000138.5(FBN1):c.3217G>T (p.Glu1073Ter)
|
rs137854478
|
|
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)
|
rs137854467
|
|
NM_000138.5(FBN1):c.5099A>G (p.Tyr1700Cys)
|
rs387906626
|
|
NM_000138.5(FBN1):c.510C>G (p.Tyr170Ter)
|
rs111671429
|
|
NM_000138.5(FBN1):c.5387G>T (p.Gly1796Val)
|
rs2043240309
|
|
NM_000138.5(FBN1):c.5959G>C (p.Gly1987Arg)
|
rs727504642
|
|
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser)
|
rs794728162
|
|
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=)
|
rs794728251
|
|
NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys)
|
rs121913479
|
|
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.1620C>A (p.Asn540Lys)
|
rs28933068
|
|
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)
|
rs28933068
|
|
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu)
|
rs78311289
|
|
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn)
|
rs28928868
|
|
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)
|
rs121913482
|
|
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys)
|
rs121913483
|
|
NM_000153.4(GALC):c.1107C>G (p.Ser369Arg)
|
rs1885895082
|
|
NM_000153.4(GALC):c.293dup (p.Leu98fs)
|
rs757799254
|
|
NM_000179.3(MSH6):c.1190_1191del (p.Tyr397fs)
|
rs63750439
|
|
NM_000179.3(MSH6):c.1910_1911del (p.Leu637fs)
|
rs1669391378
|
|
NM_000179.3(MSH6):c.2851_2858del (p.Leu951fs)
|
rs63750940
|
|
NM_000179.3(MSH6):c.2931C>G (p.Tyr977Ter)
|
rs63750111
|
|
NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter)
|
rs63750258
|
|
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter)
|
rs63750563
|
|
NM_000179.3(MSH6):c.3195_3199del (p.Asn1065fs)
|
rs1384780420
|
|
NM_000179.3(MSH6):c.3253del (p.Thr1085fs)
|
rs1060502891
|
|
NM_000179.3(MSH6):c.3261del (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3513_3514del (p.Asp1171fs)
|
rs63750194
|
|
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs)
|
rs267608121
|
|
NM_000179.3(MSH6):c.900dup (p.Lys301fs)
|
rs863225421
|
|
NM_000222.3(KIT):c.2446G>C (p.Asp816His)
|
rs121913506
|
|
NM_000222.3(KIT):c.2447A>T (p.Asp816Val)
|
rs121913507
|
|
NM_000222.3(KIT):c.2466T>A (p.Asn822Lys)
|
rs121913514
|
|
NM_000222.3(KIT):c.2466T>G (p.Asn822Lys)
|
rs121913514
|
|
NM_000243.3(MEFV):c.1730C>A (p.Thr577Asn)
|
rs1057516210
|
|
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)
|
rs28940580
|
|
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)
|
rs28940580
|
|
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del)
|
rs104895093
|
|
NM_000249.4(MLH1):c.104T>G (p.Met35Arg)
|
rs63749906
|
|
NM_000249.4(MLH1):c.131C>T (p.Ser44Phe)
|
rs63751109
|
|
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter)
|
rs63749795
|
|
NM_000249.4(MLH1):c.1489dup (p.Arg497fs)
|
rs63750855
|
|
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del)
|
rs63751247
|
|
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu)
|
rs63750610
|
|
NM_000249.4(MLH1):c.203T>A (p.Ile68Asn)
|
rs63750281
|
|
NM_000249.4(MLH1):c.2070C>G (p.Tyr690Ter)
|
rs550890395
|
|
NM_000249.4(MLH1):c.350C>T (p.Thr117Met)
|
rs63750781
|
|
NM_000249.4(MLH1):c.62C>T (p.Ala21Val)
|
rs63750706
|
|
NM_000249.4(MLH1):c.67G>T (p.Glu23Ter)
|
rs63750823
|
|
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)
|
rs63751194
|
|
NM_000249.4(MLH1):c.843dup (p.Ala282fs)
|
rs2082749588
|
|
NM_000251.3(MSH2):c.1066_1070del (p.Ile356fs)
|
rs1673082068
|
|
NM_000251.3(MSH2):c.1201_1202dup (p.Leu401fs)
|
rs869312768
|
|
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)
|
rs63751108
|
|
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs)
|
rs63750086
|
|
NM_000251.3(MSH2):c.1363_1364del (p.Glu455fs)
|
rs1675074248
|
|
NM_000251.3(MSH2):c.1447G>T (p.Glu483Ter)
|
rs63749947
|
|
NM_000251.3(MSH2):c.1447_1448del (p.Glu483fs)
|
rs63750161
|
|
NM_000251.3(MSH2):c.1587del (p.Glu530fs)
|
rs63750845
|
|
NM_000251.3(MSH2):c.1777C>T (p.Gln593Ter)
|
rs63750200
|
|
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del)
|
rs63749831
|
|
NM_000251.3(MSH2):c.187del (p.Gly62_Val63insTer)
|
rs63750160
|
|
NM_000251.3(MSH2):c.1982_1985del (p.Lys661fs)
|
rs587779120
|
|
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter)
|
rs63749932
|
|
NM_000251.3(MSH2):c.2680_2681dup (p.Met894fs)
|
rs1667578908
|
|
NM_000251.3(MSH2):c.2680dup (p.Met894fs)
|
rs876658211
|
|
NM_000251.3(MSH2):c.289C>T (p.Gln97Ter)
|
rs63750970
|
|
NM_000251.3(MSH2):c.347_350del (p.Asp116fs)
|
rs63750501
|
|
NM_000251.3(MSH2):c.680_683del (p.Arg227fs)
|
rs587782537
|
|
NM_000307.5(POU3F4):c.530C>A (p.Ser177Ter)
|
rs770657036
|
|
NM_000307.5(POU3F4):c.666_667del (p.Tyr223fs)
|
rs1925845195
|
|
NM_000307.5(POU3F4):c.704del (p.Phe235fs)
|
rs1925845638
|
|
NM_000311.5(PRNP):c.305C>T (p.Pro102Leu)
|
rs74315401
|
|
NM_000314.8(PTEN):c.306del (p.Lys102fs)
|
rs587782641
|
|
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu)
|
rs121909229
|
|
NM_000314.8(PTEN):c.633C>A (p.Cys211Ter)
|
rs121909232
|
|
NM_000346.4(SOX9):c.1196_1199del (p.Thr399fs)
|
rs1908204839
|
|
NM_000346.4(SOX9):c.436_437dup (p.Leu146_Asn147insTer)
|
rs1908139397
|
|
NM_000348.4(SRD5A2):c.307C>T (p.Arg103Ter)
|
rs267599353
|
|
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr)
|
rs121434249
|
|
NM_000348.4(SRD5A2):c.81_94del (p.Ala28fs)
|
rs1667066366
|
|
NM_000371.4(TTR):c.194C>A (p.Ala65Asp)
|
rs730881169
|
|
NM_000451.4(SHOX):c.605del (p.Met202fs)
|
rs2052845246
|
|
NM_000451.4(SHOX):c.728del (p.Pro243fs)
|
rs757845999
|
|
NM_000455.5(STK11):c.923G>A (p.Trp308Ter)
|
rs864622488
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs)
|
rs387906360
|
|
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu)
|
rs1800091
|
|
NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter)
|
rs397508350
|
|
NM_000492.4(CFTR):c.2611dup (p.Leu871fs)
|
rs1792099971
|
|
NM_000492.4(CFTR):c.262_263del (p.Leu88fs)
|
rs121908769
|
|
NM_000492.4(CFTR):c.274G>A (p.Glu92Lys)
|
rs121908751
|
|
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)
|
rs77834169
|
|
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val)
|
rs75389940
|
|
NM_000493.4(COL10A1):c.1952G>A (p.Trp651Ter)
|
rs1779066482
|
|
NM_000497.4(CYP11B1):c.1325_1332del (p.Pro442fs)
|
rs1816889095
|
|
NM_000500.9(CYP21A2):c.1066C>T (p.Leu356=)
|
rs1776234662
|
|
NM_000500.9(CYP21A2):c.1070G>C (p.Arg357Pro)
|
rs574370139
|
|
NM_000500.9(CYP21A2):c.1357C>T (p.Leu453=)
|
rs1776309065
|
|
NM_000500.9(CYP21A2):c.515T>A (p.Ile172Asn)
|
rs1776095671
|
|
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)
|
rs6471
|
|
NM_000500.9(CYP21A2):c.923_924dup (p.Leu309fs)
|
rs1776193326
|
|
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs)
|
rs267606756
|
|
NM_000500.9(CYP21A2):c.92C>A (p.Pro31Gln)
|
rs9378251
|
|
NM_000500.9(CYP21A2):c.952C>T (p.Leu318=)
|
rs1776217797
|
|
NM_000500.9(CYP21A2):c.955C>G (p.Gln319Glu)
|
rs7755898
|
|
NM_000501.4(ELN):c.956_957dup (p.Ala320fs)
|
rs1794472287
|
|
NM_000518.4(HBB):c.25A>G (p.Lys9Glu)
|
rs33926764
|
|
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)
|
rs33946267
|
|
NM_000518.5(HBB):c.112del (p.Trp38fs)
|
rs63750532
|
|
NM_000518.5(HBB):c.126_129del (p.Phe42fs)
|
rs80356821
|
|
NM_000518.5(HBB):c.135del (p.Phe46fs)
|
rs80356820
|
|
NM_000518.5(HBB):c.155del (p.Pro52fs)
|
rs63750128
|
|
NM_000518.5(HBB):c.17_18del (p.Pro6fs)
|
rs34889882
|
|
NM_000518.5(HBB):c.203_204del (p.Val68fs)
|
rs34282684
|
|
NM_000518.5(HBB):c.251del (p.Gly84fs)
|
rs193922555
|
|
NM_000518.5(HBB):c.27dup (p.Ser10fs)
|
rs35699606
|
|
NM_000518.5(HBB):c.30dup (p.Ala11fs)
|
rs34548294
|
|
NM_000518.5(HBB):c.316_444del (p.Leu106_Ter148del)
|
rs1847521496
|
|
NM_000518.5(HBB):c.47G>A (p.Trp16Ter)
|
rs63750783
|
|
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)
|
rs201451115
|
|
NM_000535.7(PMS2):c.613C>T (p.Gln205Ter)
|
rs758250810
|
|
NM_000546.6(TP53):c.1045G>T (p.Glu349Ter)
|
rs1567541975
|
|
NM_000546.6(TP53):c.638G>A (p.Arg213Gln)
|
rs587778720
|
|
NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile)
|
rs796065343
|
|
NM_000760.4(CSF3R):c.2134C>T (p.His712Tyr)
|
rs1650343681
|
|
NM_000760.4(CSF3R):c.2221C>T (p.Gln741Ter)
|
rs1650335100
|
|
NM_000760.4(CSF3R):c.2245C>T (p.Gln749Ter)
|
rs1650332196
|
|
NM_000760.4(CSF3R):c.2260C>T (p.Gln754Ter)
|
rs1650330817
|
|
NM_000781.3(CYP11A1):c.440G>A (p.Trp147Ter)
|
rs2060627551
|
|
NM_000834.5(GRIN2B):c.996del (p.Asn333fs)
|
rs1863518855
|
|
NM_001008212.2(OPTN):c.565G>T (p.Glu189Ter)
|
rs1564360451
|
|
NM_001015880.2(PAPSS2):c.1053G>A (p.Trp351Ter)
|
rs1853674376
|
|
NM_001015880.2(PAPSS2):c.1078del (p.His360fs)
|
rs1853674954
|
|
NM_001015880.2(PAPSS2):c.1476T>A (p.Tyr492Ter)
|
rs185351326
|
|
NM_001025295.3(IFITM5):c.-14C>T
|
rs587776916
|
|
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln)
|
rs794728721
|
|
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)
|
rs587778541
|
|
NM_001080517.3(SETD5):c.174T>A (p.Tyr58Ter)
|
rs2040265772
|
|
NM_001080517.3(SETD5):c.2685_2697del (p.Thr896fs)
|
rs2044345693
|
|
NM_001083962.2(TCF4):c.1726C>T (p.Arg576Ter)
|
rs1555710726
|
|
NM_001083962.2(TCF4):c.514_517del (p.Lys172fs)
|
rs398123561
|
|
NM_001083962.2(TCF4):c.548C>G (p.Ser183Ter)
|
rs2082083331
|
|
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs)
|
rs63749748
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
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.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001122630.2(CDKN1C):c.400_401insA (p.Ala134fs)
|
rs1848955968
|
|
NM_001122630.2(CDKN1C):c.401_402del (p.Ala134fs)
|
rs1848955612
|
|
NM_001130144.3(LTBP3):c.132del (p.Pro45fs)
|
rs1286042594
|
|
NM_001145358.2(SIN3A):c.1122dup (p.Glu375fs)
|
rs2073604192
|
|
NM_001145358.2(SIN3A):c.1609C>T (p.Arg537Ter)
|
rs757034687
|
|
NM_001172509.2(SATB2):c.1148del (p.Ala383fs)
|
rs1688726478
|
|
NM_001172509.2(SATB2):c.652A>T (p.Lys218Ter)
|
rs1689357139
|
|
NM_001174147.2(LMX1B):c.325C>T (p.Gln109Ter)
|
rs1835287406
|
|
NM_001197104.2(KMT2A):c.2115dup (p.Glu706Ter)
|
rs1949975069
|
|
NM_001197104.2(KMT2A):c.5260A>T (p.Asn1754Tyr)
|
rs1950371099
|
|
NM_001197104.2(KMT2A):c.7007dup (p.Gln2337fs)
|
rs1950523116
|
|
NM_001197104.2(KMT2A):c.7071del (p.Ser2358fs)
|
rs1591281225
|
|
NM_001197104.2(KMT2A):c.7438C>T (p.Arg2480Ter)
|
rs1555046568
|
|
NM_001197104.2(KMT2A):c.8095C>T (p.Arg2699Ter)
|
rs587783680
|
|
NM_001256545.2(MEGF10):c.2403_2404del (p.Ile801fs)
|
rs1765814665
|
|
NM_001323289.2(CDKL5):c.1008del (p.Gln336fs)
|
rs1926255341
|
|
NM_001323289.2(CDKL5):c.1813C>T (p.Gln605Ter)
|
rs1926301954
|
|
NM_001347721.2(DYRK1A):c.664C>T (p.Arg222Ter)
|
rs780441716
|
|
NM_001349338.3(FOXP1):c.447dup (p.Gln150fs)
|
rs2050059649
|
|
NM_001356.5(DDX3X):c.1658_1662del (p.Thr553fs)
|
rs2063932925
|
|
NM_001356.5(DDX3X):c.600T>A (p.Tyr200Ter)
|
rs777274761
|
|
NM_001365308.1(BMPER):c.501_502del (p.Val167_Phe168insTer)
|
rs1785639514
|
|
NM_001365308.1(BMPER):c.942G>A (p.Trp314Ter)
|
rs1788331355
|
|
NM_001368894.2(PAX6):c.330_331dup (p.Ile111fs)
|
rs1953909830
|
|
NM_001368894.2(PAX6):c.342G>A (p.Trp114Ter)
|
rs1131692300
|
|
NM_001368894.2(PAX6):c.463_464dup (p.Met156fs)
|
rs1953535914
|
|
NM_001368894.2(PAX6):c.760C>T (p.Arg254Ter)
|
rs121907917
|
|
NM_001370100.5(ZMYND11):c.466C>T (p.Gln156Ter)
|
rs1950080058
|
|
NM_001370259.2(MEN1):c.1023G>A (p.Trp341Ter)
|
rs1941717384
|
|
NM_001370259.2(MEN1):c.1183C>T (p.Gln395Ter)
|
rs1941661404
|
|
NM_001370259.2(MEN1):c.1252G>A (p.Asp418Asn)
|
rs104894264
|
|
NM_001370259.2(MEN1):c.1252G>C (p.Asp418His)
|
rs104894264
|
|
NM_001370259.2(MEN1):c.1273G>T (p.Glu425Ter)
|
rs1941613848
|
|
NM_001370259.2(MEN1):c.1546_1547dup (p.Lys517fs)
|
rs1941527353
|
|
NM_001370259.2(MEN1):c.1548_1549del (p.Lys517fs)
|
rs1941526116
|
|
NM_001370259.2(MEN1):c.1548del (p.Lys517fs)
|
rs761695866
|
|
NM_001370259.2(MEN1):c.186dup (p.Phe63fs)
|
rs1942006700
|
|
NM_001370259.2(MEN1):c.196_200dup (p.Asp70fs)
|
rs1555166609
|
|
NM_001370259.2(MEN1):c.19C>T (p.Gln7Ter)
|
rs1942027113
|
|
NM_001370259.2(MEN1):c.20A>C (p.Gln7Pro)
|
rs1942026974
|
|
NM_001370259.2(MEN1):c.249_252del (p.Ile85fs)
|
rs587776841
|
|
NM_001370259.2(MEN1):c.312_315del (p.Leu105fs)
|
rs1592658517
|
|
NM_001370259.2(MEN1):c.466G>T (p.Gly156Cys)
|
rs1085307471
|
|
NM_001370259.2(MEN1):c.478G>C (p.Ala160Pro)
|
rs1565648656
|
|
NM_001370259.2(MEN1):c.65T>G (p.Leu22Arg)
|
rs104894256
|
|
NM_001370259.2(MEN1):c.681C>A (p.Tyr227Ter)
|
rs778921501
|
|
NM_001370259.2(MEN1):c.766C>T (p.Leu256Phe)
|
rs878855198
|
|
NM_001370259.2(MEN1):c.795G>A (p.Trp265Ter)
|
rs1592647398
|
|
NM_001370259.2(MEN1):c.823del (p.Arg275fs)
|
rs1555165360
|
|
NM_001370259.2(MEN1):c.959C>G (p.Pro320Arg)
|
rs1114167469
|
|
NM_001370259.2(MEN1):c.969C>A (p.Tyr323Ter)
|
rs750904332
|
|
NM_001372044.2(SHANK3):c.3209del (p.Gly1070fs)
|
rs2083278717
|
|
NM_001374828.1(ARID1B):c.2086C>T (p.Gln696Ter)
|
rs1788932771
|
|
NM_001374828.1(ARID1B):c.2618_2619insCTCAACCC (p.Gln874fs)
|
rs1788661091
|
|
NM_001374828.1(ARID1B):c.4835dup (p.Tyr1613fs)
|
rs1794071513
|
|
NM_001374828.1(ARID1B):c.5047del (p.Gln1683fs)
|
rs1794099468
|
|
NM_001374828.1(ARID1B):c.5239C>T (p.Arg1747Ter)
|
rs1554236040
|
|
NM_001374828.1(ARID1B):c.5636_5639del (p.Glu1879fs)
|
rs1583513256
|
|
NM_001374828.1(ARID1B):c.5763_5766del (p.Phe1921fs)
|
rs1554237269
|
|
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter)
|
rs797045282
|
|
NM_001377.3(DYNC2H1):c.1540C>T (p.Arg514Ter)
|
rs1565317399
|
|
NM_001377.3(DYNC2H1):c.1855C>T (p.Gln619Ter)
|
rs1260978141
|
|
NM_001377.3(DYNC2H1):c.2386del (p.Arg796fs)
|
rs765454943
|
|
NM_001377.3(DYNC2H1):c.729T>A (p.Tyr243Ter)
|
rs1565311145
|
|
NM_001377.3(DYNC2H1):c.8003T>G (p.Val2668Gly)
|
rs764468030
|
|
NM_001415.4(EIF2S3):c.1394_1397del (p.Ile465fs)
|
rs886040857
|
|
NM_001451.3(FOXF1):c.691_698del (p.Ala231fs)
|
rs1597291554
|
|
NM_001451.3(FOXF1):c.75del (p.Met26fs)
|
rs1969546584
|
|
NM_001530.4(HIF1A):c.293G>A (p.Gly98Asp)
|
rs2044427387
|
|
NM_001754.5(RUNX1):c.270dup (p.Arg91fs)
|
rs2057999400
|
|
NM_001844.5(COL2A1):c.1266+1G>T
|
|
|
NM_001844.5(COL2A1):c.2381del (p.Pro794fs)
|
rs1555166218
|
|
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=)
|
rs367806541
|
|
NM_001844.5(COL2A1):c.3077G>A (p.Gly1026Asp)
|
|
|
NM_001844.5(COL2A1):c.635dup (p.Gly213fs)
|
rs1939938528
|
|
NM_001849.4(COL6A2):c.1688dup (p.Gly564fs)
|
rs1568938325
|
|
NM_001904.4(CTNNB1):c.1925_1926del (p.Glu642fs)
|
rs1553632361
|
|
NM_001972.4(ELANE):c.164G>C (p.Cys55Ser)
|
rs2035617210
|
|
NM_001972.4(ELANE):c.2T>C (p.Met1Thr)
|
rs2035606369
|
|
NM_002181.4(IHH):c.569T>C (p.Val190Ala)
|
rs121917857
|
|
NM_002184.4(IL6ST):c.841C>T (p.Arg281Ter)
|
rs1580817729
|
|
NM_002296.4(LBR):c.1127C>G (p.Pro376Arg)
|
|
|
NM_002317.7(LOX):c.625del (p.Gln209fs)
|
rs756849358
|
|
NM_003239.5(TGFB3):c.321dup (p.Phe108fs)
|
rs1555361385
|
|
NM_003282.4(TNNI2):c.466C>T (p.Arg156Ter)
|
rs104894312
|
|
NM_003401.5(XRCC4):c.859del (p.Ala287fs)
|
rs1233593843
|
|
NM_003467.3(CXCR4):c.952dup (p.Thr318fs)
|
rs1684842255
|
|
NM_003482.4(KMT2D):c.10858dup (p.Ser3620fs)
|
rs1943078129
|
|
NM_003482.4(KMT2D):c.3704del (p.Gly1235fs)
|
rs1364500207
|
|
NM_003482.4(KMT2D):c.4135_4136del (p.Met1379fs)
|
rs398123744
|
|
NM_003764.4(STX11):c.369_376delinsTGG (p.Val124fs)
|
rs483352901
|
|
NM_003924.4(PHOX2B):c.779_780insGGCGGCGGCGGCAGC (p.Ala256_Ala260dup)
|
rs1733874227
|
|
NM_004004.6(GJB2):c.313_326del (p.Lys105fs)
|
rs111033253
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)
|
rs80338950
|
|
NM_004329.3(BMPR1A):c.540C>A (p.Cys180Ter)
|
rs1843501165
|
|
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)
|
rs113488022
|
|
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)
|
rs180177035
|
|
NM_004360.5(CDH1):c.1036C>T (p.Gln346Ter)
|
rs878854676
|
|
NM_004360.5(CDH1):c.1137G>A (p.Thr379=)
|
rs587783050
|
|
NM_004360.5(CDH1):c.521dup (p.Asn174fs)
|
rs587781290
|
|
NM_004364.5(CEBPA):c.137del (p.Pro46fs)
|
rs1967197402
|
|
NM_004364.5(CEBPA):c.175G>T (p.Glu59Ter)
|
rs1210600080
|
|
NM_004364.5(CEBPA):c.247del (p.Gln83fs)
|
rs1967192886
|
|
NM_004364.5(CEBPA):c.332_339del (p.Ala111fs)
|
rs1555742213
|
|
NM_004364.5(CEBPA):c.33_67delinsTTCCTAACCCT (p.Arg12_Pro23delinsSerTer)
|
rs1967202251
|
|
NM_004364.5(CEBPA):c.367G>T (p.Gly123Ter)
|
rs1967187396
|
|
NM_004364.5(CEBPA):c.436dup (p.Leu146fs)
|
rs1967184344
|
|
NM_004364.5(CEBPA):c.68dup (p.His24fs)
|
rs137852728
|
|
NM_004364.5(CEBPA):c.911_1038dup (p.Glu347delinsSerSerAlaThrTrpArgArgSerArgArgCysTrpSerTer)
|
rs1967157292
|
|
NM_004364.5(CEBPA):c.931C>T (p.Gln311Ter)
|
rs1967162539
|
|
NM_004364.5(CEBPA):c.933_934insTTC (p.Gln311_Gln312insPhe)
|
rs1967162464
|
|
NM_004380.3(CREBBP):c.6033dup (p.Val2012fs)
|
rs2051832768
|
|
NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp)
|
rs111426349
|
|
NM_004820.5(CYP7B1):c.1033C>T (p.Gln345Ter)
|
rs1805413419
|
|
NM_004959.5(NR5A1):c.97T>A (p.Cys33Ser)
|
rs1832496590
|
|
NM_005215.4(DCC):c.1466_1476del (p.Val489fs)
|
rs2055152944
|
|
NM_005491.5(MAMLD1):c.1033del (p.Ser345fs)
|
rs2036384866
|
|
NM_005787.6(ALG3):c.2T>C (p.Met1Thr)
|
rs773271124
|
|
NM_005857.5(ZMPSTE24):c.709G>T (p.Glu237Ter)
|
rs281875370
|
|
NM_006118.4(HAX1):c.130_131insA (p.Trp44Ter)
|
rs1572018284
|
|
NM_006579.3(EBP):c.469G>A (p.Gly157Ser)
|
rs2061782205
|
|
NM_006766.5(KAT6A):c.3879dup (p.Glu1294fs)
|
rs786200952
|
|
NM_006772.3(SYNGAP1):c.1783del (p.Leu595fs)
|
rs587780470
|
|
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala)
|
rs672601335
|
|
NM_007294.4(BRCA1):c.1082_1092del (p.Cys360_Ser361insTer)
|
rs80359880
|
|
NM_007294.4(BRCA1):c.122A>G (p.His41Arg)
|
rs80357276
|
|
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe)
|
rs80357446
|
|
NM_007294.4(BRCA1):c.1360_1361del (p.Glu453_Ser454insTer)
|
rs80357969
|
|
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs)
|
rs80357888
|
|
NM_007294.4(BRCA1):c.1621C>T (p.Gln541Ter)
|
rs80356904
|
|
NM_007294.4(BRCA1):c.1772del (p.Ile591fs)
|
rs80357901
|
|
NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.2110_2111del (p.Asn704fs)
|
rs80357814
|
|
NM_007294.4(BRCA1):c.220C>T (p.Gln74Ter)
|
rs80357234
|
|
NM_007294.4(BRCA1):c.2572C>T (p.Gln858Ter)
|
rs397508983
|
|
NM_007294.4(BRCA1):c.2800C>T (p.Gln934Ter)
|
rs80357223
|
|
NM_007294.4(BRCA1):c.290_291del (p.Thr97fs)
|
rs80357738
|
|
NM_007294.4(BRCA1):c.3008_3009del (p.Asn1002_Phe1003insTer)
|
rs80357617
|
|
NM_007294.4(BRCA1):c.303T>A (p.Tyr101Ter)
|
rs80356936
|
|
NM_007294.4(BRCA1):c.3048_3052del (p.Asn1016fs)
|
rs80357856
|
|
NM_007294.4(BRCA1):c.3048_3052dup (p.Asn1018fs)
|
rs80357856
|
|
NM_007294.4(BRCA1):c.3178G>T (p.Glu1060Ter)
|
rs80357424
|
|
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs)
|
rs80357635
|
|
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs)
|
rs80357877
|
|
NM_007294.4(BRCA1):c.3604del (p.Tyr1202fs)
|
rs886040150
|
|
NM_007294.4(BRCA1):c.3626del (p.Lys1208_Leu1209insTer)
|
rs80357571
|
|
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs)
|
rs80357609
|
|
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)
|
rs80357868
|
|
NM_007294.4(BRCA1):c.3759dup (p.Lys1254Ter)
|
rs80357687
|
|
NM_007294.4(BRCA1):c.3767_3768del (p.Thr1256fs)
|
rs730881440
|
|
NM_007294.4(BRCA1):c.3770_3771del (p.Glu1257fs)
|
rs80357579
|
|
NM_007294.4(BRCA1):c.3822_3823insT (p.Ile1275fs)
|
rs397509111
|
|
NM_007294.4(BRCA1):c.3841C>T (p.Gln1281Ter)
|
rs80356866
|
|
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs)
|
rs80357711
|
|
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)
|
rs80357508
|
|
NM_007294.4(BRCA1):c.406del (p.Arg136fs)
|
rs80357709
|
|
NM_007294.4(BRCA1):c.4284_4285delinsG (p.Ser1428fs)
|
rs886040221
|
|
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)
|
rs41293455
|
|
NM_007294.4(BRCA1):c.4391_4393delinsTT (p.Pro1464fs)
|
rs273900730
|
|
NM_007294.4(BRCA1):c.4574_4575del (p.Gln1525fs)
|
rs80357813
|
|
NM_007294.4(BRCA1):c.5034del (p.Asn1678_Leu1679insTer)
|
rs2052173011
|
|
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)
|
rs55770810
|
|
NM_007294.4(BRCA1):c.514C>T (p.Gln172Ter)
|
rs80356947
|
|
NM_007294.4(BRCA1):c.5266_5267dup (p.Gln1756fs)
|
rs2051500205
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter)
|
rs397509283
|
|
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)
|
rs80357914
|
|
NM_007294.4(BRCA1):c.930del (p.Gln310fs)
|
rs80357689
|
|
NM_007294.4(BRCA1):c.962G>A (p.Trp321Ter)
|
rs80357292
|
|
NM_012414.4(RAB3GAP2):c.1743_1746del (p.Leu581fs)
|
rs1658577400
|
|
NM_012414.4(RAB3GAP2):c.214del (p.Thr72fs)
|
rs1659134672
|
|
NM_013275.6(ANKRD11):c.6760G>T (p.Gly2254Ter)
|
rs1003478010
|
|
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter)
|
rs886040971
|
|
NM_014112.5(TRPS1):c.1882C>T (p.Gln628Ter)
|
rs1554595930
|
|
NM_014112.5(TRPS1):c.2761C>T (p.Arg921Ter)
|
rs751565386
|
|
NM_014822.4(SEC24D):c.788_789del (p.Ser263fs)
|
rs1730078066
|
|
NM_015681.6(B9D1):c.467G>C (p.Arg156Pro)
|
rs886038205
|
|
NM_016122.3(CEP83):c.346G>T (p.Glu116Ter)
|
rs2063356920
|
|
NM_016628.5(WAC):c.1537C>T (p.Arg513Ter)
|
rs1564421528
|
|
NM_017635.5(KMT5B):c.725del (p.Leu242fs)
|
rs1555028154
|
|
NM_017780.4(CHD7):c.2504_2508del (p.Tyr835fs)
|
rs886040982
|
|
NM_017780.4(CHD7):c.2959C>T (p.Arg987Ter)
|
rs886040983
|
|
NM_017780.4(CHD7):c.5968C>T (p.Gln1990Ter)
|
rs1554603970
|
|
NM_017780.4(CHD7):c.6175G>T (p.Glu2059Ter)
|
rs1057520712
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
|
NM_018136.5(ASPM):c.637del (p.Ile213fs)
|
rs587783258
|
|
NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs)
|
rs199473693
|
|
NM_020458.4(TTC7A):c.76dup (p.Trp26fs)
|
rs1670387998
|
|
NM_020699.4(GATAD2B):c.1432C>T (p.Arg478Ter)
|
rs761820222
|
|
NM_020975.6(RET):c.1098G>C (p.Glu366Asp)
|
rs1362164894
|
|
NM_020975.6(RET):c.1832G>A (p.Cys611Tyr)
|
rs377767397
|
|
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.1858T>C (p.Cys620Arg)
|
rs77316810
|
|
NM_020975.6(RET):c.1859G>T (p.Cys620Phe)
|
rs77503355
|
|
NM_020975.6(RET):c.1900T>G (p.Cys634Gly)
|
rs75076352
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_020975.6(RET):c.440_442del (p.Phe147del)
|
rs1837660523
|
|
NM_020987.5(ANK3):c.2902G>C (p.Asp968His)
|
rs730882195
|
|
NM_021625.5(TRPV4):c.1847G>A (p.Arg616Gln)
|
rs121912632
|
|
NM_021625.5(TRPV4):c.1858G>A (p.Val620Ile)
|
rs121912633
|
|
NM_024339.5(THOC6):c.893del (p.Pro298fs)
|
rs2072828521
|
|
NM_024344.1:c.2362_2363delinsTCATCT
|
|
|
NM_024529.5(CDC73):c.1394C>G (p.Ser465Ter)
|
rs1677757408
|
|
NM_024529.5(CDC73):c.700C>T (p.Arg234Ter)
|
rs1675915231
|
|
NM_024675.4(PALB2):c.1592del (p.Leu531fs)
|
rs180177102
|
|
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)
|
rs180177143
|
|
NM_024675.4(PALB2):c.1919C>A (p.Ser640Ter)
|
rs760094988
|
|
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter)
|
rs886039480
|
|
NM_024740.2(ALG9):c.1173+2T>A
|
rs786205134
|
|
NM_031844.3(HNRNPU):c.1852C>T (p.Gln618Ter)
|
rs1680684866
|
|
NM_032520.5(GNPTG):c.344ACA[1] (p.Asn116del)
|
rs193302849
|
|
NM_032520.5(GNPTG):c.607dup (p.Gln203fs)
|
rs756225251
|
|
NM_133433.4(NIPBL):c.4291C>T (p.Gln1431Ter)
|
rs1747653910
|
|
NM_133433.4(NIPBL):c.4561del (p.Ile1521fs)
|
rs754929654
|
|
NM_133433.4(NIPBL):c.6576dup (p.Ile2193fs)
|
rs1752962580
|
|
NM_144997.7(FLCN):c.1098G>A (p.Trp366Ter)
|
rs879255672
|
|
NM_144997.7(FLCN):c.1285del (p.His429fs)
|
rs80338682
|
|
NM_144997.7(FLCN):c.1285dup (p.His429fs)
|
rs80338682
|
|
NM_144997.7(FLCN):c.1301_1302del
|
rs1567808098
|
|
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter)
|
rs879255678
|
|
NM_144997.7(FLCN):c.235_238del (p.Ser79fs)
|
rs750146811
|
|
NM_144997.7(FLCN):c.241_242del (p.Met81fs)
|
rs1057518147
|
|
NM_144997.7(FLCN):c.889_890del (p.Glu297fs)
|
rs1597592246
|
|
NM_144997.7(FLCN):c.927dup (p.Ala310fs)
|
rs879255669
|
|
NM_144997.7(FLCN):c.943G>T (p.Glu315Ter)
|
rs587781952
|
|
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)
|
rs387907281
|
|
NM_152641.4(ARID2):c.300del (p.Lys99_Tyr100insTer)
|
rs1942707093
|
|
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg)
|
rs869312840
|
|
NM_181486.4(TBX5):c.1081C>T (p.Gln361Ter)
|
rs1868888758
|
|
NM_182943.3(PLOD2):c.1764G>T (p.Trp588Cys)
|
rs1936187674
|
|
NM_198428.3(BBS9):c.1962_1963insAAATTATTCATTGGAG (p.Leu655fs)
|
rs1825528981
|
|
NM_199242.3(UNC13D):c.1366C>T (p.Gln456Ter)
|
rs2064908936
|
|
NM_199242.3(UNC13D):c.762del (p.Cys255fs)
|
rs1381855537
|
|
NM_205768.3(ZBTB18):c.246dup (p.Ala83fs)
|
rs1698403157
|
|
NM_205768.3(ZBTB18):c.658dup (p.Thr220fs)
|
rs1698413680
|
|