NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
|
rs80338945
|
0.00066
|
NM_004004.6(GJB2):c.167del (p.Leu56fs)
|
rs80338942
|
0.00058
|
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
|
rs76434661
|
0.00047
|
NM_000441.2(SLC26A4):c.1001+1G>A
|
rs80338849
|
0.00029
|
NM_030653.4(DDX11):c.1763-1G>C
|
rs148856317
|
0.00024
|
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
|
rs80338948
|
0.00021
|
NM_000352.6(ABCC8):c.3989-9G>A
|
rs151344623
|
0.00019
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)
|
rs104894398
|
0.00013
|
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)
|
rs28940298
|
0.00010
|
NM_022124.6(CDH23):c.6050-9G>A
|
rs367928692
|
0.00006
|
NM_000551.4(VHL):c.562C>G (p.Leu188Val)
|
rs5030824
|
0.00004
|
NM_004004.6(GJB2):c.1A>G (p.Met1Val)
|
rs111033293
|
0.00004
|
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)
|
rs371897078
|
0.00003
|
NM_000143.4(FH):c.698G>A (p.Arg233His)
|
rs121913123
|
0.00003
|
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter)
|
rs570388861
|
0.00003
|
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter)
|
rs111033297
|
0.00003
|
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)
|
rs773528125
|
0.00003
|
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)
|
rs80338950
|
0.00003
|
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)
|
rs72559722
|
0.00002
|
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter)
|
rs786204491
|
0.00002
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
NM_000143.4(FH):c.1020T>A (p.Asn340Lys)
|
rs398123159
|
0.00001
|
NM_000143.4(FH):c.1189G>A (p.Gly397Arg)
|
rs863224007
|
0.00001
|
NM_000143.4(FH):c.1255T>C (p.Ser419Pro)
|
rs200004220
|
0.00001
|
NM_000143.4(FH):c.301C>T (p.Arg101Ter)
|
rs121913120
|
0.00001
|
NM_000143.4(FH):c.553_554insTG (p.Gln185fs)
|
rs768182640
|
0.00001
|
NM_000143.4(FH):c.560C>G (p.Ser187Ter)
|
rs398123166
|
0.00001
|
NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup)
|
rs757650373
|
0.00001
|
NM_000551.4(VHL):c.292T>C (p.Tyr98His)
|
rs5030809
|
0.00001
|
NM_000551.4(VHL):c.499C>T (p.Arg167Trp)
|
rs5030820
|
0.00001
|
NM_001378743.1(CYLD):c.2299A>T (p.Lys767Ter)
|
rs886040888
|
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_144672.4(OTOA):c.755G>A (p.Trp252Ter)
|
rs879255431
|
0.00001
|
NM_144997.7(FLCN):c.1579_1580insA (p.Arg527fs)
|
rs753009073
|
0.00001
|
NM_144997.7(FLCN):c.779+1G>T
|
rs758175953
|
0.00001
|
NC_000002.12:g.(?_144388714)_(144520303_?)del
|
|
|
NC_000023.11:g.(?_18625128)_(18628587_?)del
|
|
|
NM_000141.5(FGFR2):c.1007A>G (p.Asp336Gly)
|
rs1057519042
|
|
NM_000141.5(FGFR2):c.1012G>C (p.Gly338Arg)
|
rs1057519043
|
|
NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu)
|
rs1057519044
|
|
NM_000141.5(FGFR2):c.1018T>C (p.Tyr340His)
|
rs121918489
|
|
NM_000141.5(FGFR2):c.1021A>C (p.Thr341Pro)
|
rs121918495
|
|
NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser)
|
rs121918488
|
|
NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg)
|
rs121918488
|
|
NM_000141.5(FGFR2):c.1024T>G (p.Cys342Gly)
|
rs121918488
|
|
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr)
|
rs121918487
|
|
NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser)
|
rs121918487
|
|
NM_000141.5(FGFR2):c.1025G>T (p.Cys342Phe)
|
rs121918487
|
|
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=)
|
rs121918491
|
|
NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys)
|
rs121918494
|
|
NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys)
|
rs121918502
|
|
NM_000141.5(FGFR2):c.1061C>G (p.Ser354Cys)
|
rs121918490
|
|
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys)
|
rs121913478
|
|
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)
|
rs79184941
|
|
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)
|
rs77543610
|
|
NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro)
|
rs121918505
|
|
NM_000141.5(FGFR2):c.826T>G (p.Phe276Val)
|
rs1057519036
|
|
NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe)
|
rs776587763
|
|
NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro)
|
rs121918497
|
|
NM_000141.5(FGFR2):c.868T>C (p.Trp290Arg)
|
rs121918501
|
|
NM_000141.5(FGFR2):c.868T>G (p.Trp290Gly)
|
rs121918501
|
|
NM_000141.5(FGFR2):c.869G>C (p.Trp290Ser)
|
rs1057519039
|
|
NM_000141.5(FGFR2):c.870G>C (p.Trp290Cys)
|
rs121918499
|
|
NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys)
|
rs121918499
|
|
NM_000141.5(FGFR2):c.923A>G (p.Tyr308Cys)
|
rs1057519040
|
|
NM_000141.5(FGFR2):c.940-2A>G
|
rs1057519041
|
|
NM_000141.5(FGFR2):c.962A>C (p.Asp321Ala)
|
rs121918510
|
|
NM_000141.5(FGFR2):c.983A>G (p.Tyr328Cys)
|
rs121918493
|
|
NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu)
|
rs28931615
|
|
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)
|
rs121913482
|
|
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)
|
rs4647924
|
|
NM_000143.4(FH):c.1027C>T (p.Arg343Ter)
|
rs121913122
|
|
NM_000143.4(FH):c.1041del (p.Gly348fs)
|
rs1060499641
|
|
NM_000143.4(FH):c.1063G>T (p.Glu355Ter)
|
rs1060499642
|
|
NM_000143.4(FH):c.1083_1086del (p.Glu362fs)
|
rs756469140
|
|
NM_000143.4(FH):c.1093A>G (p.Ser365Gly)
|
rs863223966
|
|
NM_000143.4(FH):c.1118A>G (p.Asn373Ser)
|
rs1060499643
|
|
NM_000143.4(FH):c.1126C>T (p.Gln376Ter)
|
rs398123160
|
|
NM_000143.4(FH):c.1138dup (p.Met380fs)
|
rs781466938
|
|
NM_000143.4(FH):c.1209del (p.Phe403fs)
|
rs1060499644
|
|
NM_000143.4(FH):c.1293del (p.Glu432fs)
|
rs398123163
|
|
NM_000143.4(FH):c.1298_1340dup (p.Met449fs)
|
rs1553340681
|
|
NM_000143.4(FH):c.133-1G>A
|
rs863224011
|
|
NM_000143.4(FH):c.139C>T (p.Gln47Ter)
|
rs863223980
|
|
NM_000143.4(FH):c.1500G>A (p.Trp500Ter)
|
rs886039368
|
|
NM_000143.4(FH):c.157G>T (p.Glu53Ter)
|
rs863224013
|
|
NM_000143.4(FH):c.239dup (p.Ile81fs)
|
rs1553341942
|
|
NM_000143.4(FH):c.267+1G>C
|
rs878853691
|
|
NM_000143.4(FH):c.267+1_267+10del
|
rs1060499629
|
|
NM_000143.4(FH):c.320A>C (p.Asn107Thr)
|
rs121913121
|
|
NM_000143.4(FH):c.322C>T (p.Gln108Ter)
|
rs1060499630
|
|
NM_000143.4(FH):c.395_399del (p.Lys131_Leu132insTer)
|
rs863223995
|
|
NM_000143.4(FH):c.395del (p.Lys131_Leu132insTer)
|
rs1060499631
|
|
NM_000143.4(FH):c.439dup (p.Thr147fs)
|
rs1060499633
|
|
NM_000143.4(FH):c.524del (p.Val175fs)
|
rs1060499634
|
|
NM_000143.4(FH):c.556-2A>T
|
rs750273092
|
|
NM_000143.4(FH):c.722_738+3del
|
rs1064792900
|
|
NM_000143.4(FH):c.808del (p.Tyr270fs)
|
rs1060499637
|
|
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.1082G>A (p.Trp361Ter)
|
rs864309551
|
|
NM_000352.6(ABCC8):c.2695-2A>T
|
rs863225278
|
|
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)
|
rs151344624
|
|
NM_000352.6(ABCC8):c.4456_4457del (p.Arg1486fs)
|
rs863225279
|
|
NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys)
|
rs137852671
|
|
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)
|
rs863225280
|
|
NM_000352.6(ABCC8):c.72C>A (p.Asn24Lys)
|
rs771075821
|
|
NM_000546.5:c.-28_672dup
|
|
|
NM_000546.6(TP53):c.331_365dup (p.Thr123fs)
|
rs1597373467
|
|
NM_000551.4(VHL):c.163dup (p.Glu55fs)
|
rs869025615
|
|
NM_000551.4(VHL):c.164_171dup (p.Arg60fs)
|
rs886041345
|
|
NM_000551.4(VHL):c.189_192del (p.Arg64_Ser65insTer)
|
rs869025647
|
|
NM_000551.4(VHL):c.191G>C (p.Arg64Pro)
|
rs104893826
|
|
NM_000551.4(VHL):c.194C>A (p.Ser65Ter)
|
rs5030826
|
|
NM_000551.4(VHL):c.194C>G (p.Ser65Trp)
|
rs5030826
|
|
NM_000551.4(VHL):c.203C>A (p.Ser68Ter)
|
rs869025617
|
|
NM_000551.4(VHL):c.208G>A (p.Glu70Lys)
|
rs5030802
|
|
NM_000551.4(VHL):c.208G>T (p.Glu70Ter)
|
rs5030802
|
|
NM_000551.4(VHL):c.217C>T (p.Gln73Ter)
|
rs869025619
|
|
NM_000551.4(VHL):c.221del (p.Val74fs)
|
rs869025620
|
|
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del)
|
rs5030648
|
|
NM_000551.4(VHL):c.232A>C (p.Asn78His)
|
rs869025621
|
|
NM_000551.4(VHL):c.232A>G (p.Asn78Asp)
|
rs869025621
|
|
NM_000551.4(VHL):c.233A>G (p.Asn78Ser)
|
rs5030804
|
|
NM_000551.4(VHL):c.233A>T (p.Asn78Ile)
|
rs5030804
|
|
NM_000551.4(VHL):c.233del (p.Asn78fs)
|
rs1559425925
|
|
NM_000551.4(VHL):c.239G>T (p.Ser80Ile)
|
rs5030805
|
|
NM_000551.4(VHL):c.239_261del (p.Ser80fs)
|
rs1559425951
|
|
NM_000551.4(VHL):c.245G>C (p.Arg82Pro)
|
rs794726890
|
|
NM_000551.4(VHL):c.250G>C (p.Val84Leu)
|
rs5030827
|
|
NM_000551.4(VHL):c.250G>T (p.Val84Leu)
|
rs5030827
|
|
NM_000551.4(VHL):c.256C>T (p.Pro86Ser)
|
rs398123481
|
|
NM_000551.4(VHL):c.257C>T (p.Pro86Leu)
|
rs730882034
|
|
NM_000551.4(VHL):c.258del (p.Val87fs)
|
rs864622545
|
|
NM_000551.4(VHL):c.258dup (p.Val87fs)
|
rs864622545
|
|
NM_000551.4(VHL):c.262T>A (p.Trp88Arg)
|
rs1553619431
|
|
NM_000551.4(VHL):c.263G>A (p.Trp88Ter)
|
rs119103277
|
|
NM_000551.4(VHL):c.266T>C (p.Leu89Pro)
|
rs5030807
|
|
NM_000551.4(VHL):c.269del (p.Asn90fs)
|
rs869025623
|
|
NM_000551.4(VHL):c.277G>A (p.Gly93Ser)
|
rs5030808
|
|
NM_000551.4(VHL):c.277G>T (p.Gly93Cys)
|
rs5030808
|
|
NM_000551.4(VHL):c.278G>A (p.Gly93Asp)
|
rs1553619440
|
|
NM_000551.4(VHL):c.278del (p.Gly93fs)
|
rs1131690964
|
|
NM_000551.4(VHL):c.280G>T (p.Glu94Ter)
|
rs5030829
|
|
NM_000551.4(VHL):c.292_295del (p.Tyr98fs)
|
rs1559426095
|
|
NM_000551.4(VHL):c.293A>G (p.Tyr98Cys)
|
rs864321643
|
|
NM_000551.4(VHL):c.293dup (p.Tyr98Ter)
|
rs869025624
|
|
NM_000551.4(VHL):c.294C>G (p.Tyr98Ter)
|
rs1559426115
|
|
NM_000551.4(VHL):c.296dup (p.Thr100fs)
|
rs869025625
|
|
NM_000551.4(VHL):c.300dup (p.Leu101fs)
|
rs869025626
|
|
NM_000551.4(VHL):c.304_305dup (p.Pro103fs)
|
rs1559426145
|
|
NM_000551.4(VHL):c.309del (p.Gly104fs)
|
rs869025627
|
|
NM_000551.4(VHL):c.309dup (p.Gly104fs)
|
rs869025628
|
|
NM_000551.4(VHL):c.320G>C (p.Arg107Pro)
|
rs193922609
|
|
NM_000551.4(VHL):c.332G>A (p.Ser111Asn)
|
rs869025631
|
|
NM_000551.4(VHL):c.334T>A (p.Tyr112Asn)
|
rs104893824
|
|
NM_000551.4(VHL):c.334T>C (p.Tyr112His)
|
rs104893824
|
|
NM_000551.4(VHL):c.335_340+5del
|
rs869025632
|
|
NM_000551.4(VHL):c.337C>T (p.Arg113Ter)
|
rs5030810
|
|
NM_000551.4(VHL):c.340+1G>A
|
rs730882032
|
|
NM_000551.4(VHL):c.340+2_340+6del
|
rs869025634
|
|
NM_000551.4(VHL):c.340G>C (p.Gly114Arg)
|
rs869025636
|
|
NM_000551.4(VHL):c.341-2A>G
|
rs869025637
|
|
NM_000551.4(VHL):c.346dup (p.Leu116fs)
|
rs1559428051
|
|
NM_000551.4(VHL):c.350G>A (p.Trp117Ter)
|
rs1559428056
|
|
NM_000551.4(VHL):c.351G>T (p.Trp117Cys)
|
rs727504215
|
|
NM_000551.4(VHL):c.351del (p.Trp117fs)
|
rs869025640
|
|
NM_000551.4(VHL):c.352_353insA (p.Leu118fs)
|
rs869025641
|
|
NM_000551.4(VHL):c.357C>G (p.Phe119Leu)
|
rs1559428077
|
|
NM_000551.4(VHL):c.362A>G (p.Asp121Gly)
|
rs5030832
|
|
NM_000551.4(VHL):c.374A>C (p.His125Pro)
|
rs869025643
|
|
NM_000551.4(VHL):c.374_375del (p.His125fs)
|
rs869025644
|
|
NM_000551.4(VHL):c.381del (p.Leu128fs)
|
rs1559428107
|
|
NM_000551.4(VHL):c.388G>C (p.Val130Leu)
|
rs104893830
|
|
NM_000551.4(VHL):c.393_394dup (p.Gln132fs)
|
rs1559428128
|
|
NM_000551.4(VHL):c.394C>T (p.Gln132Ter)
|
rs5030813
|
|
NM_000551.4(VHL):c.397del (p.Thr133fs)
|
rs1559428134
|
|
NM_000551.4(VHL):c.402del (p.Glu134fs)
|
rs869025646
|
|
NM_000551.4(VHL):c.413del (p.Pro138fs)
|
rs1559428164
|
|
NM_000551.4(VHL):c.419_420del (p.Leu140fs)
|
rs869025649
|
|
NM_000551.4(VHL):c.431del (p.Gly144fs)
|
rs869025651
|
|
NM_000551.4(VHL):c.433C>T (p.Gln145Ter)
|
rs749704215
|
|
NM_000551.4(VHL):c.433_439del (p.Gln145fs)
|
rs1559428217
|
|
NM_000551.4(VHL):c.435_436del (p.Gln145fs)
|
rs869025652
|
|
NM_000551.4(VHL):c.444del (p.Phe148fs)
|
rs869025653
|
|
NM_000551.4(VHL):c.444dup (p.Ala149fs)
|
rs869025653
|
|
NM_000551.4(VHL):c.445G>A (p.Ala149Thr)
|
rs587780077
|
|
NM_000551.4(VHL):c.445G>T (p.Ala149Ser)
|
rs587780077
|
|
NM_000551.4(VHL):c.445dup (p.Ala149fs)
|
rs1559428232
|
|
NM_000551.4(VHL):c.449del (p.Asn150fs)
|
rs794727253
|
|
NM_000551.4(VHL):c.452T>G (p.Ile151Ser)
|
rs869025655
|
|
NM_000551.4(VHL):c.454_463+17del
|
rs869025656
|
|
NM_000551.4(VHL):c.462del (p.Val155fs)
|
rs1559428267
|
|
NM_000551.4(VHL):c.463+1G>C
|
rs869025657
|
|
NM_000551.4(VHL):c.464-1G>A
|
rs5030817
|
|
NM_000551.4(VHL):c.464-1G>C
|
rs5030817
|
|
NM_000551.4(VHL):c.464-1G>T
|
rs5030817
|
|
NM_000551.4(VHL):c.464-2A>G
|
rs5030816
|
|
NM_000551.4(VHL):c.467A>G (p.Tyr156Cys)
|
rs397516441
|
|
NM_000551.4(VHL):c.470C>T (p.Thr157Ile)
|
rs869025660
|
|
NM_000551.4(VHL):c.473T>C (p.Leu158Pro)
|
rs121913346
|
|
NM_000551.4(VHL):c.477del (p.Glu160fs)
|
rs730882020
|
|
NM_000551.4(VHL):c.477dup (p.Glu160fs)
|
rs730882020
|
|
NM_000551.4(VHL):c.481C>T (p.Arg161Ter)
|
rs5030818
|
|
NM_000551.4(VHL):c.482G>A (p.Arg161Gln)
|
rs730882035
|
|
NM_000551.4(VHL):c.484T>C (p.Cys162Arg)
|
rs1553620313
|
|
NM_000551.4(VHL):c.485G>A (p.Cys162Tyr)
|
rs397516444
|
|
NM_000551.4(VHL):c.485G>T (p.Cys162Phe)
|
rs397516444
|
|
NM_000551.4(VHL):c.486C>G (p.Cys162Trp)
|
rs5030622
|
|
NM_000551.4(VHL):c.491A>G (p.Gln164Arg)
|
rs267607170
|
|
NM_000551.4(VHL):c.497T>A (p.Val166Asp)
|
rs397516445
|
|
NM_000551.4(VHL):c.497T>C (p.Val166Ala)
|
rs397516445
|
|
NM_000551.4(VHL):c.499C>G (p.Arg167Gly)
|
rs5030820
|
|
NM_000551.4(VHL):c.500G>A (p.Arg167Gln)
|
rs5030821
|
|
NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs)
|
rs398123483
|
|
NM_000551.4(VHL):c.509T>A (p.Val170Asp)
|
rs864321642
|
|
NM_000551.4(VHL):c.526del (p.Arg176fs)
|
rs1559429711
|
|
NM_000551.4(VHL):c.529A>T (p.Arg177Ter)
|
rs1559429717
|
|
NM_000551.4(VHL):c.533T>A (p.Leu178Gln)
|
rs5030822
|
|
NM_000551.4(VHL):c.533T>C (p.Leu178Pro)
|
rs5030822
|
|
NM_000551.4(VHL):c.533T>G (p.Leu178Arg)
|
rs5030822
|
|
NM_000551.4(VHL):c.533_534del (p.Leu178fs)
|
rs1559429736
|
|
NM_000551.4(VHL):c.548C>A (p.Ser183Ter)
|
rs5030823
|
|
NM_000551.4(VHL):c.555C>G (p.Tyr185Ter)
|
rs864622109
|
|
NM_000551.4(VHL):c.586A>T (p.Lys196Ter)
|
rs281860296
|
|
NM_000834.5(GRIN2B):c.2430C>A (p.Ser810Arg)
|
rs864309560
|
|
NM_000901.5(NR3C2):c.1409C>A (p.Ser470Ter)
|
rs879255348
|
|
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter)
|
rs199474742
|
|
NM_001110792.2(MECP2):c.319_322del (p.Tyr107fs)
|
rs1557137776
|
|
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.784dup (p.Arg262fs)
|
rs61749752
|
|
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.952C>T (p.Arg318Cys)
|
rs28935468
|
|
NM_001165963.4(SCN1A):c.1277A>G (p.Tyr426Cys)
|
rs796052973
|
|
NM_001197104.2(KMT2A):c.6329C>G (p.Ser2110Ter)
|
rs864309569
|
|
NM_001253852.3(AP4B1):c.114-2A>C
|
rs879255396
|
|
NM_001253852.3(AP4B1):c.530_531insA (p.Asn178fs)
|
rs879255397
|
|
NM_001256789.3(CACNA1F):c.4690G>T (p.Glu1564Ter)
|
rs879255389
|
|
NM_001282534.2(KCNK9):c.706G>A (p.Gly236Arg)
|
rs121908332
|
|
NM_001323289.2(CDKL5):c.1897C>T (p.Gln633Ter)
|
rs863225065
|
|
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg)
|
rs267608468
|
|
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp)
|
rs267608493
|
|
NM_001378743.1(CYLD):c.1112C>A (p.Ser371Ter)
|
rs886040872
|
|
NM_001378743.1(CYLD):c.1327C>T (p.Gln443Ter)
|
rs764952788
|
|
NM_001378743.1(CYLD):c.1363C>T (p.Gln455Ter)
|
rs886040873
|
|
NM_001378743.1(CYLD):c.1537dup (p.Cys513fs)
|
rs886040874
|
|
NM_001378743.1(CYLD):c.1599dup (p.Val534fs)
|
rs886040875
|
|
NM_001378743.1(CYLD):c.1658_1661del (p.Asn553fs)
|
rs886040876
|
|
NM_001378743.1(CYLD):c.1771A>T (p.Lys591Ter)
|
rs886040879
|
|
NM_001378743.1(CYLD):c.1950-2_1953del
|
rs886040882
|
|
NM_001378743.1(CYLD):c.2108G>A (p.Arg703Lys)
|
rs886040884
|
|
NM_001378743.1(CYLD):c.2138_2139dup (p.Phe714fs)
|
rs886040885
|
|
NM_001378743.1(CYLD):c.2242-2A>G
|
rs886040886
|
|
NM_001378743.1(CYLD):c.2291_2295del (p.Lys764fs)
|
rs886040887
|
|
NM_001378743.1(CYLD):c.2350+1G>T
|
rs886040890
|
|
NM_001378743.1(CYLD):c.2390_2391del (p.Met796_Tyr797insTer)
|
rs886040891
|
|
NM_001378743.1(CYLD):c.2406_2407del (p.Cys802_Tyr803delinsTer)
|
rs886040892
|
|
NM_001378743.1(CYLD):c.2515del (p.Ser839fs)
|
rs886040893
|
|
NM_001378743.1(CYLD):c.2569C>T (p.Gln857Ter)
|
rs886040894
|
|
NM_001378743.1(CYLD):c.2806C>T (p.Arg936Ter)
|
rs121908390
|
|
NM_001378743.1(CYLD):c.831_834del (p.Asp277fs)
|
rs886040868
|
|
NM_001378743.1(CYLD):c.911dup (p.Ala305fs)
|
rs886040869
|
|
NM_001378743.1(CYLD):c.968_977del (p.Ser323fs)
|
rs886040870
|
|
NM_001378743.1(CYLD):c.987_988dup (p.Gly330fs)
|
rs886040871
|
|
NM_001904.4(CTNNB1):c.1867C>T (p.Gln623Ter)
|
rs864309577
|
|
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)
|
rs558269137
|
|
NM_002049.4(GATA1):c.115_116insGGGGCTTGGATGCAGCAGCTTCCTGCACTGCCCCGAGCACAGCCACCGCTGCAGCTGCGGCCTG (p.Glu39delinsGlyGlyLeuAspAlaAlaAlaSerCysThrAlaProSerThrAlaThrAlaAlaAlaAlaAlaTer)
|
rs2062673859
|
|
NM_002049.4(GATA1):c.142_149dup (p.Ser51fs)
|
rs2062673949
|
|
NM_002049.4(GATA1):c.151_186delinsT (p.Ser51fs)
|
rs2062674043
|
|
NM_002049.4(GATA1):c.159_171dup (p.Ala58fs)
|
rs2062674122
|
|
NM_002049.4(GATA1):c.175_193dup (p.Asp65fs)
|
rs2062674253
|
|
NM_002049.4(GATA1):c.219A>G (p.Pro73=)
|
rs2062674480
|
|
NM_002049.4(GATA1):c.219del (p.Val74fs)
|
rs2062674491
|
|
NM_002049.4(GATA1):c.49_50del (p.Gln17fs)
|
rs2062673530
|
|
NM_002049.4(GATA1):c.4dup (p.Glu2fs)
|
rs2062673272
|
|
NM_002049.4(GATA1):c.89C>G (p.Ser30Ter)
|
rs1557020021
|
|
NM_002250.3(KCNN4):c.1055G>A (p.Arg352His)
|
rs774455945
|
|
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter)
|
rs876658461
|
|
NM_003688.3:c.116_117delCA
|
|
|
NM_004004.5(GJB2):c.[134G>A;408C>A]
|
|
|
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>C (p.Val84Leu)
|
rs104894409
|
|
NM_004004.6(GJB2):c.313_326del (p.Lys105fs)
|
rs111033253
|
|
NM_004004.6(GJB2):c.334_335del (p.Lys112fs)
|
rs756484720
|
|
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)
|
rs80338947
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)
|
rs80338950
|
|
NM_004004.6(GJB2):c.647_650del (p.Arg216fs)
|
rs587783647
|
|
NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala)
|
rs113994088
|
|
NM_004304.5(ALK):c.3520T>A (p.Phe1174Ile)
|
rs281864719
|
|
NM_004304.5(ALK):c.3520T>C (p.Phe1174Leu)
|
rs281864719
|
|
NM_004304.5(ALK):c.3520T>G (p.Phe1174Val)
|
rs281864719
|
|
NM_004304.5(ALK):c.3522C>A (p.Phe1174Leu)
|
rs863225281
|
|
NM_004304.5(ALK):c.3522C>G (p.Phe1174Leu)
|
rs863225281
|
|
NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro)
|
rs113994089
|
|
NM_004304.5(ALK):c.3733T>A (p.Phe1245Ile)
|
rs281864720
|
|
NM_004304.5(ALK):c.3734T>G (p.Phe1245Cys)
|
rs863225283
|
|
NM_004304.5(ALK):c.3735C>A (p.Phe1245Leu)
|
rs863225284
|
|
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln)
|
rs113994087
|
|
NM_004304.5(ALK):c.3833A>C (p.Tyr1278Ser)
|
rs863225285
|
|
NM_004429.5(EFNB1):c.561del (p.Asn187fs)
|
rs1057519035
|
|
NM_004560.4(ROR2):c.355C>T (p.Arg119Ter)
|
rs121909087
|
|
NM_004992.3(MECP2):c.[1155_1200del;987_988del]
|
|
|
NM_005249.5(FOXG1):c.460dup (p.Glu154fs)
|
rs398124204
|
|
NM_005859.5(PURA):c.509_515del (p.Ile170fs)
|
rs879255390
|
|
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val)
|
rs387906930
|
|
NM_006766.5(KAT6A):c.3116_3117del (p.Ile1038_Ser1039insTer)
|
rs786200959
|
|
NM_014795.4(ZEB2):c.2365del (p.Ser789fs)
|
rs786203992
|
|
NM_014795.4(ZEB2):c.2398dup (p.Ser800fs)
|
rs786203990
|
|
NM_014795.4(ZEB2):c.3544del (p.Glu1182fs)
|
rs786203991
|
|
NM_014795.4(ZEB2):c.808-1G>T
|
rs786203993
|
|
NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter)
|
rs587784571
|
|
NM_015335.5(MED13L):c.5444del (p.Thr1815fs)
|
rs879255407
|
|
NM_016239.4(MYO15A):c.2984_2991del (p.Glu995fs)
|
rs864309607
|
|
NM_017780.4(CHD7):c.1073del (p.Gly358fs)
|
rs886040980
|
|
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter)
|
rs587783429
|
|
NM_017780.4(CHD7):c.2215G>T (p.Glu739Ter)
|
rs886040981
|
|
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.3071dup (p.Leu1025fs)
|
rs886040984
|
|
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter)
|
rs886040985
|
|
NM_017780.4(CHD7):c.3526C>T (p.Gln1176Ter)
|
rs886040986
|
|
NM_017780.4(CHD7):c.3572_3573del (p.Lys1191fs)
|
rs886040987
|
|
NM_017780.4(CHD7):c.3674dup (p.Asn1225fs)
|
rs886040989
|
|
NM_017780.4(CHD7):c.3811_3814del (p.Glu1271fs)
|
rs886040990
|
|
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro)
|
rs864309609
|
|
NM_017780.4(CHD7):c.3964del (p.Leu1322fs)
|
rs879255410
|
|
NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter)
|
rs886040991
|
|
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter)
|
rs794727293
|
|
NM_017780.4(CHD7):c.4837_4838del (p.Leu1613fs)
|
rs886040992
|
|
NM_017780.4(CHD7):c.496C>T (p.Gln166Ter)
|
rs886040978
|
|
NM_017780.4(CHD7):c.5235_5236dup (p.Tyr1746fs)
|
rs886040994
|
|
NM_017780.4(CHD7):c.5405-7G>A
|
rs398124321
|
|
NM_017780.4(CHD7):c.5833C>T (p.Arg1945Ter)
|
rs757160222
|
|
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter)
|
rs886040995
|
|
NM_017780.4(CHD7):c.6148C>T (p.Arg2050Ter)
|
rs886040996
|
|
NM_017780.4(CHD7):c.7282dup (p.Arg2428fs)
|
rs886040997
|
|
NM_017780.4(CHD7):c.7802dup (p.Tyr2601Ter)
|
rs886040998
|
|
NM_017780.4(CHD7):c.8730_8731del (p.Pro2911fs)
|
rs886041000
|
|
NM_017780.4(CHD7):c.8962dup (p.Asp2988fs)
|
rs771806027
|
|
NM_023067.4(FOXL2):c.1011del (p.Thr338fs)
|
rs1057516185
|
|
NM_023067.4(FOXL2):c.15C>A (p.Tyr5Ter)
|
rs1057516139
|
|
NM_023067.4(FOXL2):c.171C>G (p.Tyr57Ter)
|
rs1057516141
|
|
NM_023067.4(FOXL2):c.173C>A (p.Ser58Ter)
|
rs1057516142
|
|
NM_023067.4(FOXL2):c.205G>T (p.Glu69Ter)
|
rs387906920
|
|
NM_023067.4(FOXL2):c.293G>A (p.Trp98Ter)
|
rs1057516150
|
|
NM_023067.4(FOXL2):c.338del (p.Ile113fs)
|
rs1057516158
|
|
NM_023067.4(FOXL2):c.353_476dup (p.His159fs)
|
rs1553752890
|
|
NM_023067.4(FOXL2):c.43del (p.Leu15fs)
|
rs1057516140
|
|
NM_023067.4(FOXL2):c.576dup (p.Lys193fs)
|
rs1057516161
|
|
NM_023067.4(FOXL2):c.582C>G (p.Tyr194Ter)
|
rs1057516163
|
|
NM_023067.4(FOXL2):c.612G>A (p.Trp204Ter)
|
rs1057516164
|
|
NM_023067.4(FOXL2):c.618del (p.Pro207fs)
|
rs1057516165
|
|
NM_023067.4(FOXL2):c.630_651dup (p.Cys218fs)
|
rs1057516166
|
|
NM_023067.4(FOXL2):c.632C>A (p.Ser211Ter)
|
rs1057516167
|
|
NM_023067.4(FOXL2):c.644A>G (p.Tyr215Cys)
|
rs1057516168
|
|
NM_023067.4(FOXL2):c.655C>T (p.Gln219Ter)
|
rs104893741
|
|
NM_023067.4(FOXL2):c.662_689del (p.Ala221fs)
|
rs1057516170
|
|
NM_023067.4(FOXL2):c.663_692dup (p.Ala225_Ala234dup)
|
rs764243782
|
|
NM_023067.4(FOXL2):c.672_701dup (p.Ala225_Ala234dup)
|
rs387906321
|
|
NM_023067.4(FOXL2):c.674_695del (p.Ala225fs)
|
rs1057516172
|
|
NM_023067.4(FOXL2):c.674_703dup (p.Ala225_Ala234dup)
|
rs1057516173
|
|
NM_023067.4(FOXL2):c.678_705del (p.Ala227fs)
|
rs1057516174
|
|
NM_023067.4(FOXL2):c.748_749del (p.Gly250fs)
|
rs1057516175
|
|
NM_023067.4(FOXL2):c.777dup (p.Arg260fs)
|
rs1057516176
|
|
NM_023067.4(FOXL2):c.804del (p.Gly269fs)
|
rs797044528
|
|
NM_023067.4(FOXL2):c.804dup (p.Gly269fs)
|
rs797044528
|
|
NM_023067.4(FOXL2):c.827dup (p.Leu277fs)
|
rs1057516178
|
|
NM_023067.4(FOXL2):c.840_871del (p.Ala283fs)
|
rs1057516179
|
|
NM_023067.4(FOXL2):c.841_857dup (p.Pro287fs)
|
rs797044529
|
|
NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs)
|
rs672601359
|
|
NM_023067.4(FOXL2):c.854del (p.Pro285fs)
|
rs797044531
|
|
NM_023067.4(FOXL2):c.855_871dup (p.His291fs)
|
rs797044532
|
|
NM_023067.4(FOXL2):c.856_857delinsA (p.Pro286fs)
|
rs1057516180
|
|
NM_023067.4(FOXL2):c.892dup (p.His298fs)
|
rs1057516181
|
|
NM_023067.4(FOXL2):c.907_926dup (p.His312fs)
|
rs1057516182
|
|
NM_023067.4(FOXL2):c.951_961dup (p.Gln321fs)
|
rs1057516183
|
|
NM_023067.4(FOXL2):c.982del (p.Ala328fs)
|
rs1057516184
|
|
NM_130838.2(UBE3A):c.[255_259del;269del]
|
|
|
NM_130839.5(UBE3A):c.1472_1476del (p.Leu490_Tyr491insTer)
|
rs863225068
|
|
NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup)
|
rs398124510
|
|
NM_144997.7(FLCN):c.1036_1043del (p.Phe346fs)
|
rs879255670
|
|
NM_144997.7(FLCN):c.1098G>A (p.Trp366Ter)
|
rs879255672
|
|
NM_144997.7(FLCN):c.1124_1139del (p.Ile375fs)
|
rs879255673
|
|
NM_144997.7(FLCN):c.1252del (p.Leu418fs)
|
rs864622651
|
|
NM_144997.7(FLCN):c.1285del (p.His429fs)
|
rs80338682
|
|
NM_144997.7(FLCN):c.1285dup (p.His429fs)
|
rs80338682
|
|
NM_144997.7(FLCN):c.1286dup (p.His429fs)
|
rs879255675
|
|
NM_144997.7(FLCN):c.1300+1G>A
|
rs879255676
|
|
NM_144997.7(FLCN):c.1318_1334dup (p.Leu449fs)
|
rs879255677
|
|
NM_144997.7(FLCN):c.1389C>A (p.Tyr463Ter)
|
rs137852929
|
|
NM_144997.7(FLCN):c.1389C>G (p.Tyr463Ter)
|
rs137852929
|
|
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter)
|
rs879255678
|
|
NM_144997.7(FLCN):c.1432+1G>A
|
rs755959303
|
|
NM_144997.7(FLCN):c.1487_1490dup (p.Asp498fs)
|
rs879255679
|
|
NM_144997.7(FLCN):c.1528del (p.Glu510fs)
|
rs879255680
|
|
NM_144997.7(FLCN):c.1532G>A (p.Trp511Ter)
|
rs879255682
|
|
NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter)
|
rs398124530
|
|
NM_144997.7(FLCN):c.235_238del (p.Ser79fs)
|
rs750146811
|
|
NM_144997.7(FLCN):c.250-1G>A
|
rs786202081
|
|
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.3G>C (p.Met1Ile)
|
rs879255658
|
|
NM_144997.7(FLCN):c.453del (p.Phe152fs)
|
rs879255660
|
|
NM_144997.7(FLCN):c.499C>T (p.Gln167Ter)
|
rs587782069
|
|
NM_144997.7(FLCN):c.584del (p.Gly195fs)
|
rs878855217
|
|
NM_144997.7(FLCN):c.59del (p.Phe20fs)
|
rs876658390
|
|
NM_144997.7(FLCN):c.610_611delinsTA (p.Ala204Ter)
|
rs398124538
|
|
NM_144997.7(FLCN):c.632_633delinsC (p.Glu211fs)
|
rs879255661
|
|
NM_144997.7(FLCN):c.634C>T (p.Gln212Ter)
|
rs558699420
|
|
NM_144997.7(FLCN):c.735_738del (p.Ser246fs)
|
rs879255662
|
|
NM_144997.7(FLCN):c.752G>A (p.Trp251Ter)
|
rs879255663
|
|
NM_144997.7(FLCN):c.851del (p.Val284fs)
|
rs879255666
|
|
NM_144997.7(FLCN):c.853C>T (p.Gln285Ter)
|
rs879255667
|
|
NM_144997.7(FLCN):c.875T>G (p.Leu292Ter)
|
rs879255668
|
|
NM_144997.7(FLCN):c.890_893del (p.Glu297fs)
|
rs398124541
|
|
NM_144997.7(FLCN):c.927_954dup (p.Gly319fs)
|
rs398124542
|
|
NM_144997.7(FLCN):c.927dup (p.Ala310fs)
|
rs879255669
|
|
NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser)
|
rs864309572
|
|
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)
|
rs606231128
|
|
NM_198156.3(VHL):c.341-3273del
|
rs869025638
|
|
NM_201384.3(PLEC):c.13297A>T (p.Lys4433Ter)
|
rs864309634
|
|
NM_201384.3(PLEC):c.5932G>T (p.Glu1978Ter)
|
rs864309635
|
|
inv(16)(p13.3q24.3)
|
|
|
t(11;12)(p15;p13)
|
|
|
t(11;17)(q23;q12-q21)
|
|
|
t(16;16)(p13.3;q24.3)
|
|
|