NM_000546.6(TP53):c.215C>G (p.Pro72Arg)
|
rs1042522
|
0.62654
|
NM_022124.6(CDH23):c.7055-16A>G
|
rs4747193
|
0.34615
|
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)
|
rs144848
|
0.23116
|
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala)
|
rs1227049
|
0.20047
|
NM_022124.6(CDH23):c.1449+130T>C
|
rs2305209
|
0.14152
|
NM_080425.4(GNAS):c.1307C>A (p.Ala436Asp)
|
rs61749698
|
0.07665
|
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)
|
rs41281314
|
0.04612
|
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp)
|
rs1799944
|
0.04357
|
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val)
|
rs1801426
|
0.03864
|
NM_000059.4(BRCA2):c.2229T>C (p.His743=)
|
rs1801499
|
0.03698
|
NM_000059.4(BRCA2):c.865A>C (p.Asn289His)
|
rs766173
|
0.03693
|
NM_022124.6(CDH23):c.429+18T>C
|
rs141451003
|
0.02288
|
NM_003640.5(ELP1):c.959-15C>T
|
rs112114410
|
0.01906
|
NM_003001.5(SDHC):c.-38G>A
|
rs112556972
|
0.01611
|
NM_004168.4(SDHA):c.1664-8G>A
|
rs199790689
|
0.01533
|
NM_017841.4(SDHAF2):c.36+10G>A
|
rs114207859
|
0.01460
|
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)
|
rs11203289
|
0.01309
|
NM_003072.5(SMARCA4):c.1419+8C>T
|
rs115492175
|
0.01292
|
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe)
|
rs4987047
|
0.01281
|
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=)
|
rs9590940
|
0.01220
|
NM_080425.4(GNAS):c.1376C>G (p.Pro459Arg)
|
rs148033592
|
0.01117
|
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met)
|
rs41281330
|
0.01037
|
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg)
|
rs4986860
|
0.00984
|
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)
|
rs11571707
|
0.00868
|
NM_000546.6(TP53):c.97-6C>T
|
rs35117667
|
0.00847
|
NM_022124.6(CDH23):c.4846-19G>C
|
rs80261750
|
0.00835
|
NM_001904.4(CTNNB1):c.14-4A>G
|
rs5743391
|
0.00827
|
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=)
|
rs36060526
|
0.00793
|
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn)
|
rs45574331
|
0.00792
|
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile)
|
rs11571831
|
0.00792
|
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=)
|
rs34351119
|
0.00791
|
NM_003002.4(SDHD):c.312C>T (p.His104=)
|
rs61734352
|
0.00690
|
NM_000516.7(GNAS):c.951C>T (p.Arg317=)
|
rs75561530
|
0.00680
|
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser)
|
rs34135067
|
0.00646
|
NM_000516.7(GNAS):c.384G>A (p.Val128=)
|
rs3730166
|
0.00609
|
NM_000516.7(GNAS):c.366C>T (p.Pro122=)
|
rs35287986
|
0.00583
|
NM_003072.5(SMARCA4):c.2002-19T>C
|
rs111899994
|
0.00578
|
NM_003072.5(SMARCA4):c.1419+7T>C
|
rs112977340
|
0.00546
|
NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly)
|
rs74897360
|
0.00538
|
NM_022124.6(CDH23):c.1449+76C>A
|
rs41281304
|
0.00518
|
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=)
|
rs28897734
|
0.00488
|
NM_003072.5(SMARCA4):c.4272G>A (p.Pro1424=)
|
rs114882905
|
0.00462
|
NM_000059.4(BRCA2):c.7008-62A>G
|
rs76584943
|
0.00439
|
NM_080425.4(GNAS):c.1221C>G (p.Thr407=)
|
rs200430001
|
0.00433
|
NM_003072.5(SMARCA4):c.3547-11T>C
|
rs190104006
|
0.00408
|
NM_003738.5(PTCH2):c.2565C>T (p.Leu855=)
|
rs34245589
|
0.00406
|
NM_001904.4(CTNNB1):c.2320C>T (p.Leu774=)
|
rs4135386
|
0.00390
|
NM_080425.4(GNAS):c.1455C>A (p.Ala485=)
|
rs55890501
|
0.00388
|
NM_003072.5(SMARCA4):c.1119-12C>T
|
rs113870824
|
0.00387
|
NM_003072.5(SMARCA4):c.2001+8T>G
|
rs112549813
|
0.00384
|
NM_022153.2(VSIR):c.839C>T (p.Ser280Leu)
|
rs143240262
|
0.00376
|
NM_001126049.2(KLLN):c.-898G>A
|
rs538728843
|
0.00262
|
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile)
|
rs28897749
|
0.00239
|
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=)
|
rs1799952
|
0.00228
|
NM_000268.4(NF2):c.*359G>A
|
rs572307337
|
0.00217
|
NM_003640.5(ELP1):c.2204+18G>C
|
rs115641835
|
0.00213
|
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro)
|
rs11571746
|
0.00202
|
NM_004168.4(SDHA):c.1551+16C>T
|
rs184954254
|
0.00198
|
NM_080425.4(GNAS):c.484A>G (p.Met162Val)
|
rs138731520
|
0.00192
|
NM_000059.4(BRCA2):c.231T>G (p.Thr77=)
|
rs114446594
|
0.00191
|
NM_003000.3(SDHB):c.32G>A (p.Arg11His)
|
rs111430410
|
0.00185
|
NM_003000.3(SDHB):c.300T>C (p.Ser100=)
|
rs11541235
|
0.00157
|
NM_003738.5(PTCH2):c.3363A>G (p.Ile1121Met)
|
rs11573598
|
0.00155
|
NM_003072.5(SMARCA4):c.258C>T (p.Asp86=)
|
rs115992445
|
0.00153
|
NM_003072.5(SMARCA4):c.1419+9C>T
|
rs374635008
|
0.00128
|
NM_000546.6(TP53):c.139C>T (p.Pro47Ser)
|
rs1800371
|
0.00123
|
NM_017841.4(SDHAF2):c.32C>T (p.Ser11Leu)
|
rs148425779
|
0.00108
|
NM_003738.5(PTCH2):c.1994G>A (p.Arg665His)
|
rs138588008
|
0.00103
|
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=)
|
rs28897711
|
0.00096
|
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)
|
rs181255269
|
0.00078
|
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)
|
rs41293475
|
0.00074
|
NM_016592.5(GNAS):c.537G>A (p.Pro179=)
|
rs181594534
|
0.00072
|
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe)
|
rs55639415
|
0.00069
|
NM_000314.8(PTEN):c.-666G>A
|
rs553371022
|
0.00069
|
NM_001904.4(CTNNB1):c.1683+17A>G
|
rs2276826
|
0.00068
|
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp)
|
rs376271562
|
0.00068
|
NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly)
|
rs372480044
|
0.00058
|
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg)
|
rs28897712
|
0.00054
|
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn)
|
rs28897716
|
0.00054
|
NM_003640.5(ELP1):c.1913C>T (p.Ala638Val)
|
rs144370288
|
0.00048
|
NM_022124.6(CDH23):c.832+8A>G
|
rs56129333
|
0.00048
|
NM_001126049.2(KLLN):c.-792C>T
|
rs587779982
|
0.00044
|
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met)
|
rs201053044
|
0.00043
|
NM_001904.4(CTNNB1):c.1155C>A (p.Leu385=)
|
rs74692094
|
0.00041
|
NM_003640.5(ELP1):c.1309A>C (p.Asn437His)
|
rs148609833
|
0.00041
|
NM_003640.5(ELP1):c.909C>G (p.Val303=)
|
rs142420285
|
0.00038
|
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu)
|
rs371522435
|
0.00038
|
NM_003738.5(PTCH2):c.1780G>A (p.Ala594Thr)
|
rs147669300
|
0.00037
|
NM_003977.4(AIP):c.26G>A (p.Arg9Gln)
|
rs139459091
|
0.00037
|
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val)
|
rs111033536
|
0.00037
|
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys)
|
rs41281336
|
0.00035
|
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val)
|
rs79538375
|
0.00031
|
NM_004168.4(SDHA):c.*179G>A
|
rs980815395
|
0.00031
|
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys)
|
rs370074117
|
0.00031
|
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg)
|
rs143335584
|
0.00029
|
NM_000546.5(TP53):c.319T>C (p.Tyr107His)
|
rs368771578
|
0.00028
|
NM_003072.5(SMARCA4):c.1245+18C>T
|
rs376247014
|
0.00027
|
NM_080425.4(GNAS):c.1395A>C (p.Pro465=)
|
rs56213454
|
0.00027
|
NM_000059.4(BRCA2):c.1395A>C (p.Val465=)
|
rs11571641
|
0.00026
|
NM_003640.5(ELP1):c.3855+19G>A
|
rs113767921
|
0.00026
|
NM_003640.5(ELP1):c.947C>T (p.Pro316Leu)
|
rs374814563
|
0.00026
|
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp)
|
rs201877610
|
0.00026
|
NM_022124.6(CDH23):c.4621G>A (p.Val1541Met)
|
rs565657378
|
0.00026
|
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)
|
rs56328701
|
0.00025
|
NM_000059.4(BRCA2):c.9876G>A (p.Pro3292=)
|
rs369047997
|
0.00025
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr)
|
rs200177873
|
0.00025
|
NM_022124.6(CDH23):c.1981G>A (p.Val661Met)
|
rs369157174
|
0.00024
|
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)
|
rs56087561
|
0.00023
|
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His)
|
rs140884994
|
0.00023
|
NM_000516.7(GNAS):c.312+17T>C
|
rs78999525
|
0.00022
|
NM_080425.4(GNAS):c.154G>A (p.Glu52Lys)
|
rs527488103
|
0.00022
|
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile)
|
rs550384315
|
0.00021
|
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val)
|
rs374362883
|
0.00020
|
NM_022124.6(CDH23):c.5470C>T (p.Arg1824Cys)
|
rs755817193
|
0.00019
|
NM_022124.6(CDH23):c.9326G>A (p.Arg3109His)
|
rs200188029
|
0.00019
|
NM_000516.7(GNAS):c.530+11G>A
|
rs74474807
|
0.00017
|
NM_000268.4(NF2):c.114+20G>T
|
rs746868503
|
0.00016
|
NM_003640.5(ELP1):c.3477C>T (p.His1159=)
|
rs141257064
|
0.00016
|
NM_003738.5(PTCH2):c.2661C>T (p.His887=)
|
rs149815763
|
0.00016
|
NM_004168.4(SDHA):c.955A>C (p.Ile319Leu)
|
rs377509915
|
0.00016
|
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp)
|
rs373276722
|
0.00016
|
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)
|
rs111033270
|
0.00016
|
NM_003640.5(ELP1):c.2087G>A (p.Arg696Gln)
|
rs137853022
|
0.00015
|
NM_004168.4(SDHA):c.704T>C (p.Ile235Thr)
|
rs144513891
|
0.00015
|
NM_000546.6(TP53):c.672+18G>C
|
rs199578278
|
0.00014
|
NM_003640.5(ELP1):c.3417G>C (p.Leu1139Phe)
|
rs202080366
|
0.00014
|
NM_004168.4(SDHA):c.991G>A (p.Ala331Thr)
|
rs200526913
|
0.00014
|
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val)
|
rs200635365
|
0.00014
|
NM_022124.6(CDH23):c.4864G>A (p.Val1622Met)
|
rs199754104
|
0.00014
|
NM_000314.6(PTEN):c.-859A>G
|
rs876661029
|
0.00013
|
NM_000314.6(PTEN):c.-909T>C
|
rs550385924
|
0.00013
|
NM_000516.7(GNAS):c.1038+17_1038+20del
|
rs773644530
|
0.00013
|
NM_000516.7(GNAS):c.213-11C>T
|
rs369370389
|
0.00013
|
NM_001126049.2(KLLN):c.-777C>T
|
rs961642255
|
0.00013
|
NM_003000.3(SDHB):c.455C>T (p.Ser152Phe)
|
rs200414835
|
0.00012
|
NM_003072.5(SMARCA4):c.914C>T (p.Pro305Leu)
|
rs138097741
|
0.00012
|
NM_003640.5(ELP1):c.2205-7C>T
|
rs148221146
|
0.00012
|
NM_003640.5(ELP1):c.2498A>C (p.His833Pro)
|
rs201714373
|
0.00012
|
NM_003640.5(ELP1):c.2920G>A (p.Ala974Thr)
|
rs151120244
|
0.00012
|
NM_000314.8(PTEN):c.-835C>T
|
rs587779994
|
0.00011
|
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr)
|
rs202004587
|
0.00011
|
NM_003640.5(ELP1):c.1073G>A (p.Arg358Gln)
|
rs139091484
|
0.00011
|
NM_016169.4(SUFU):c.1232C>T (p.Thr411Met)
|
rs368020224
|
0.00011
|
NM_022124.6(CDH23):c.1672G>A (p.Val558Met)
|
rs780661396
|
0.00011
|
NM_022124.6(CDH23):c.1919C>T (p.Thr640Met)
|
rs199796910
|
0.00011
|
NM_022124.6(CDH23):c.5363C>T (p.Pro1788Leu)
|
rs564555435
|
0.00011
|
NM_022124.6(CDH23):c.6869C>T (p.Thr2290Met)
|
rs370912192
|
0.00011
|
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met)
|
rs376617494
|
0.00011
|
NM_003079.5(SMARCE1):c.767A>G (p.Lys256Arg)
|
rs542193901
|
0.00010
|
NM_003640.5(ELP1):c.3593G>A (p.Arg1198Gln)
|
rs200322331
|
0.00010
|
NM_022124.6(CDH23):c.3115G>A (p.Val1039Met)
|
rs781597943
|
0.00010
|
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=)
|
rs41293491
|
0.00009
|
NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser)
|
rs142899125
|
0.00009
|
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu)
|
rs371387815
|
0.00009
|
NM_000546.6(TP53):c.847C>T (p.Arg283Cys)
|
rs149633775
|
0.00009
|
NM_003640.5(ELP1):c.1644-13T>C
|
rs557540663
|
0.00009
|
NM_003640.5(ELP1):c.3949C>A (p.Pro1317Thr)
|
rs199595486
|
0.00009
|
NM_003640.5(ELP1):c.484G>C (p.Gly162Arg)
|
rs565257577
|
0.00009
|
NM_003977.4(AIP):c.827C>T (p.Ala276Val)
|
rs61741147
|
0.00009
|
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln)
|
rs199844384
|
0.00009
|
NM_016169.4(SUFU):c.1045A>G (p.Ser349Gly)
|
rs368178771
|
0.00009
|
NM_022124.6(CDH23):c.1213G>A (p.Val405Ile)
|
rs370549448
|
0.00009
|
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met)
|
rs200632520
|
0.00009
|
NM_000059.4(BRCA2):c.9501+3A>T
|
rs61757642
|
0.00008
|
NM_003001.5(SDHC):c.405+13G>A
|
rs369274171
|
0.00008
|
NM_003640.5(ELP1):c.3917C>T (p.Ser1306Leu)
|
rs780649768
|
0.00008
|
NM_004168.4(SDHA):c.155C>T (p.Ser52Phe)
|
rs377470390
|
0.00008
|
NM_016169.4(SUFU):c.1028G>A (p.Arg343His)
|
rs79299301
|
0.00008
|
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys)
|
rs111033509
|
0.00008
|
NM_022124.6(CDH23):c.415G>A (p.Val139Ile)
|
rs771868822
|
0.00008
|
NM_022124.6(CDH23):c.9037G>A (p.Val3013Met)
|
rs369776863
|
0.00008
|
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter)
|
rs200910410
|
0.00008
|
NM_080425.4(GNAS):c.913T>C (p.Ser305Pro)
|
rs376517306
|
0.00008
|
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu)
|
rs80358912
|
0.00007
|
NM_003640.5(ELP1):c.1599A>G (p.Ala533=)
|
rs771318456
|
0.00007
|
NM_003640.5(ELP1):c.2165G>A (p.Arg722Gln)
|
rs370575901
|
0.00007
|
NM_003640.5(ELP1):c.3454G>A (p.Gly1152Ser)
|
rs771838754
|
0.00007
|
NM_003640.5(ELP1):c.3527G>A (p.Ser1176Asn)
|
rs749668335
|
0.00007
|
NM_022124.6(CDH23):c.2953G>C (p.Val985Leu)
|
rs374964318
|
0.00007
|
NM_022124.6(CDH23):c.4520G>A (p.Arg1507Gln)
|
rs373480195
|
0.00007
|
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile)
|
rs181611778
|
0.00007
|
NM_022124.6(CDH23):c.5653C>T (p.Arg1885Cys)
|
rs368848049
|
0.00007
|
NM_022124.6(CDH23):c.9381-123C>A
|
rs775172553
|
0.00007
|
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter)
|
rs80358638
|
0.00006
|
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr)
|
rs80358930
|
0.00006
|
NM_000516.7(GNAS):c.357G>A (p.Leu119=)
|
rs368741499
|
0.00006
|
NM_003000.3(SDHB):c.112C>T (p.Arg38Cys)
|
rs202119350
|
0.00006
|
NM_003640.5(ELP1):c.1400C>A (p.Ala467Asp)
|
rs368040993
|
0.00006
|
NM_003640.5(ELP1):c.3259G>A (p.Ala1087Thr)
|
rs61749203
|
0.00006
|
NM_022124.6(CDH23):c.1699G>A (p.Val567Met)
|
rs377148854
|
0.00006
|
NM_022124.6(CDH23):c.1867G>A (p.Val623Ile)
|
rs143782870
|
0.00006
|
NM_022124.6(CDH23):c.4625G>A (p.Gly1542Asp)
|
rs781339262
|
0.00006
|
NM_022124.6(CDH23):c.6050-9G>A
|
rs367928692
|
0.00006
|
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln)
|
rs201434373
|
0.00006
|
NM_022124.6(CDH23):c.7295G>A (p.Gly2432Asp)
|
rs201579860
|
0.00006
|
NM_022124.6(CDH23):c.8344G>A (p.Asp2782Asn)
|
rs202147495
|
0.00006
|
NM_022124.6(CDH23):c.9904G>A (p.Glu3302Lys)
|
rs368743687
|
0.00006
|
NM_000516.7(GNAS):c.1039-4G>A
|
rs575570315
|
0.00005
|
NM_000516.7(GNAS):c.576G>T (p.Pro192=)
|
rs558915293
|
0.00005
|
NM_003640.5(ELP1):c.3188T>C (p.Ile1063Thr)
|
rs754831171
|
0.00005
|
NM_003640.5(ELP1):c.3360T>C (p.Tyr1120=)
|
rs766875245
|
0.00005
|
NM_003640.5(ELP1):c.617T>G (p.Phe206Cys)
|
rs184739734
|
0.00005
|
NM_004168.4(SDHA):c.1462G>A (p.Ala488Thr)
|
rs369100772
|
0.00005
|
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)
|
rs748089700
|
0.00005
|
NM_004168.4(SDHA):c.51G>A (p.Ala17=)
|
rs764698195
|
0.00005
|
NM_004168.4(SDHA):c.841A>G (p.Thr281Ala)
|
rs772325115
|
0.00005
|
NM_022124.6(CDH23):c.9955G>A (p.Glu3319Lys)
|
rs771858198
|
0.00005
|
NM_080425.4(GNAS):c.1462G>A (p.Ala488Thr)
|
rs552813440
|
0.00005
|
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)
|
rs80358721
|
0.00004
|
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)
|
rs80359212
|
0.00004
|
NM_000268.4(NF2):c.1619A>G (p.Asn540Ser)
|
rs774824164
|
0.00004
|
NM_000314.8(PTEN):c.-121A>G
|
rs886047395
|
0.00004
|
NM_000516.7(GNAS):c.684C>T (p.Arg228=)
|
rs147984566
|
0.00004
|
NM_000516.7(GNAS):c.936T>C (p.Phe312=)
|
rs764458531
|
0.00004
|
NM_000546.6(TP53):c.460G>A (p.Gly154Ser)
|
rs137852789
|
0.00004
|
NM_001126049.2(KLLN):c.-1039G>A
|
rs587779999
|
0.00004
|
NM_001126049.2(KLLN):c.-806A>C
|
rs587782761
|
0.00004
|
NM_003000.3(SDHB):c.307A>G (p.Met103Val)
|
rs140178341
|
0.00004
|
NM_003072.5(SMARCA4):c.1018G>A (p.Ala340Thr)
|
rs371214327
|
0.00004
|
NM_003072.5(SMARCA4):c.3552G>A (p.Leu1184=)
|
rs368250779
|
0.00004
|
NM_003072.5(SMARCA4):c.3830C>T (p.Pro1277Leu)
|
rs746219091
|
0.00004
|
NM_003079.5(SMARCE1):c.412G>A (p.Ala138Thr)
|
rs771308672
|
0.00004
|
NM_003640.5(ELP1):c.1536C>T (p.Asp512=)
|
rs751808911
|
0.00004
|
NM_003640.5(ELP1):c.1805G>A (p.Arg602Gln)
|
rs369627815
|
0.00004
|
NM_003640.5(ELP1):c.1925C>T (p.Thr642Met)
|
rs377020122
|
0.00004
|
NM_003640.5(ELP1):c.2284G>A (p.Val762Met)
|
rs146338880
|
0.00004
|
NM_003640.5(ELP1):c.2845C>T (p.His949Tyr)
|
rs201440191
|
0.00004
|
NM_003640.5(ELP1):c.2861-12T>G
|
rs746590157
|
0.00004
|
NM_003640.5(ELP1):c.3032G>A (p.Arg1011His)
|
rs368999377
|
0.00004
|
NM_003640.5(ELP1):c.3137T>C (p.Val1046Ala)
|
rs1286140759
|
0.00004
|
NM_003640.5(ELP1):c.3456T>C (p.Gly1152=)
|
rs746303238
|
0.00004
|
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter)
|
rs376078668
|
0.00004
|
NM_003640.5(ELP1):c.3932-18T>G
|
rs767184876
|
0.00004
|
NM_003640.5(ELP1):c.410C>A (p.Thr137Lys)
|
rs201460139
|
0.00004
|
NM_003640.5(ELP1):c.865-9C>T
|
rs748084965
|
0.00004
|
NM_003640.5(ELP1):c.958+20C>T
|
rs370413742
|
0.00004
|
NM_003977.4(AIP):c.355C>T (p.Arg119Trp)
|
rs368933035
|
0.00004
|
NM_004168.4(SDHA):c.1001C>T (p.Ala334Val)
|
rs765180271
|
0.00004
|
NM_004168.4(SDHA):c.1115C>G (p.Pro372Arg)
|
rs141493530
|
0.00004
|
NM_004168.4(SDHA):c.1694C>A (p.Thr565Asn)
|
rs757176672
|
0.00004
|
NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu)
|
rs377632619
|
0.00004
|
NM_004168.4(SDHA):c.448G>A (p.Val150Met)
|
rs542980860
|
0.00004
|
NM_004168.4(SDHA):c.739A>G (p.Ile247Val)
|
rs571292356
|
0.00004
|
NM_004168.4(SDHA):c.970G>A (p.Glu324Lys)
|
rs147014102
|
0.00004
|
NM_022124.6(CDH23):c.2251G>A (p.Gly751Arg)
|
rs41281306
|
0.00004
|
NM_022124.6(CDH23):c.269G>A (p.Arg90Gln)
|
rs397517317
|
0.00004
|
NM_022124.6(CDH23):c.2804G>A (p.Arg935His)
|
rs748194042
|
0.00004
|
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter)
|
rs397517329
|
0.00004
|
NM_022124.6(CDH23):c.5692G>A (p.Ala1898Thr)
|
rs548937425
|
0.00004
|
NM_022124.6(CDH23):c.6808C>T (p.Arg2270Cys)
|
rs755800639
|
0.00004
|
NM_022124.6(CDH23):c.7942G>A (p.Val2648Met)
|
rs749501038
|
0.00004
|
NM_022124.6(CDH23):c.9557G>A (p.Arg3186Gln)
|
rs763303827
|
0.00004
|
NM_022124.6(CDH23):c.9616C>T (p.Arg3206Cys)
|
rs778711089
|
0.00004
|
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr)
|
rs374545987
|
0.00004
|
NM_080425.4(GNAS):c.958G>A (p.Asp320Asn)
|
rs201342585
|
0.00004
|
NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu)
|
rs397507330
|
0.00003
|
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val)
|
rs80358916
|
0.00003
|
NM_000059.4(BRCA2):c.9235del (p.Val3079fs)
|
rs397507422
|
0.00003
|
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln)
|
rs375709098
|
0.00003
|
NM_000516.7(GNAS):c.1131C>T (p.Asn377=)
|
rs140075370
|
0.00003
|
NM_000516.7(GNAS):c.660-19C>T
|
rs370723643
|
0.00003
|
NM_001126049.2(KLLN):c.-845C>T
|
rs587782068
|
0.00003
|
NM_003000.3(SDHB):c.544G>A (p.Gly182Arg)
|
rs201928318
|
0.00003
|
NM_003072.5(SMARCA4):c.2562C>T (p.Asn854=)
|
rs369724341
|
0.00003
|
NM_003072.5(SMARCA4):c.3436G>A (p.Gly1146Ser)
|
rs200007170
|
0.00003
|
NM_003072.5(SMARCA4):c.4255G>A (p.Ala1419Thr)
|
rs374722116
|
0.00003
|
NM_003072.5(SMARCA4):c.4826T>C (p.Leu1609Pro)
|
rs755493468
|
0.00003
|
NM_003072.5(SMARCA4):c.778A>C (p.Met260Leu)
|
rs1064795842
|
0.00003
|
NM_003640.5(ELP1):c.1127C>T (p.Thr376Met)
|
rs376671881
|
0.00003
|
NM_003640.5(ELP1):c.1135C>T (p.Arg379Trp)
|
rs766255360
|
0.00003
|
NM_003640.5(ELP1):c.1614G>C (p.Met538Ile)
|
rs749608070
|
0.00003
|
NM_003640.5(ELP1):c.1814A>G (p.Tyr605Cys)
|
rs756919296
|
0.00003
|
NM_003640.5(ELP1):c.2009T>G (p.Phe670Cys)
|
rs139479557
|
0.00003
|
NM_003640.5(ELP1):c.2386A>G (p.Met796Val)
|
rs748482757
|
0.00003
|
NM_003640.5(ELP1):c.2790T>C (p.Asn930=)
|
rs1057521262
|
0.00003
|
NM_003640.5(ELP1):c.2801T>G (p.Phe934Cys)
|
rs776891269
|
0.00003
|
NM_003640.5(ELP1):c.3014C>T (p.Ala1005Val)
|
rs55658431
|
0.00003
|
NM_003640.5(ELP1):c.3281G>A (p.Arg1094Lys)
|
rs200941360
|
0.00003
|
NM_003640.5(ELP1):c.360C>G (p.Asp120Glu)
|
rs775972369
|
0.00003
|
NM_003640.5(ELP1):c.3767A>G (p.Gln1256Arg)
|
rs766517046
|
0.00003
|
NM_003640.5(ELP1):c.3889A>G (p.Met1297Val)
|
rs769146127
|
0.00003
|
NM_003640.5(ELP1):c.80G>A (p.Arg27Gln)
|
rs375666523
|
0.00003
|
NM_003640.5(ELP1):c.817C>A (p.Leu273Ile)
|
rs1370759222
|
0.00003
|
NM_003640.5(ELP1):c.859G>A (p.Val287Ile)
|
rs755938001
|
0.00003
|
NM_003738.5(PTCH2):c.565C>G (p.Leu189Val)
|
rs747885797
|
0.00003
|
NM_003977.4(AIP):c.406G>T (p.Ala136Ser)
|
rs775549178
|
0.00003
|
NM_004168.4(SDHA):c.1324G>A (p.Ala442Thr)
|
rs754893758
|
0.00003
|
NM_004168.4(SDHA):c.154T>A (p.Ser52Thr)
|
rs150326789
|
0.00003
|
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter)
|
rs781764920
|
0.00003
|
NM_004168.4(SDHA):c.424A>G (p.Met142Val)
|
rs776848209
|
0.00003
|
NM_004168.4(SDHA):c.607A>G (p.Thr203Ala)
|
rs373340696
|
0.00003
|
NM_004168.4(SDHA):c.613T>C (p.Tyr205His)
|
rs61754481
|
0.00003
|
NM_022124.6(CDH23):c.227G>A (p.Arg76His)
|
rs373802615
|
0.00003
|
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp)
|
rs368496658
|
0.00003
|
NM_022124.6(CDH23):c.3172C>G (p.Leu1058Val)
|
rs748462315
|
0.00003
|
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys)
|
rs202204597
|
0.00003
|
NM_022124.6(CDH23):c.4249C>T (p.Arg1417Trp)
|
rs756231829
|
0.00003
|
NM_022124.6(CDH23):c.7466G>A (p.Arg2489His)
|
rs141986620
|
0.00003
|
NM_022124.6(CDH23):c.7634C>T (p.Thr2545Ile)
|
rs763947401
|
0.00003
|
NM_022124.6(CDH23):c.7822C>T (p.Arg2608Cys)
|
rs370922401
|
0.00003
|
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter)
|
rs1344509500
|
0.00003
|
NM_022124.6(CDH23):c.9002G>A (p.Arg3001Gln)
|
rs111033467
|
0.00003
|
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp)
|
rs375907609
|
0.00003
|
NM_022124.6(CDH23):c.9175C>A (p.Pro3059Thr)
|
rs780514498
|
0.00003
|
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp)
|
rs121908353
|
0.00003
|
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg)
|
rs28897709
|
0.00002
|
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp)
|
rs80358626
|
0.00002
|
NM_000059.4(BRCA2):c.5220A>C (p.Leu1740Phe)
|
rs750671399
|
0.00002
|
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)
|
rs80358785
|
0.00002
|
NM_000059.4(BRCA2):c.7360A>T (p.Ile2454Phe)
|
rs876660249
|
0.00002
|
NM_000059.4(BRCA2):c.7986G>A (p.Thr2662=)
|
rs1057522378
|
0.00002
|
NM_000059.4(BRCA2):c.8331+3A>C
|
rs876659382
|
0.00002
|
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter)
|
rs80359200
|
0.00002
|
NM_000268.4(NF2):c.1447-11C>T
|
rs571246532
|
0.00002
|
NM_000268.4(NF2):c.515G>A (p.Arg172Lys)
|
rs752963731
|
0.00002
|
NM_000314.8(PTEN):c.-765G>A
|
rs587776674
|
0.00002
|
NM_000546.6(TP53):c.-12C>T
|
rs375229869
|
0.00002
|
NM_000546.6(TP53):c.466C>T (p.Arg156Cys)
|
rs563378859
|
0.00002
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
NM_003072.5(SMARCA4):c.4424+6C>T
|
rs778283753
|
0.00002
|
NM_003072.5(SMARCA4):c.929G>A (p.Arg310His)
|
rs766422429
|
0.00002
|
NM_003640.5(ELP1):c.1018A>G (p.Thr340Ala)
|
rs770333327
|
0.00002
|
NM_003640.5(ELP1):c.1141G>A (p.Val381Met)
|
rs769108524
|
0.00002
|
NM_003640.5(ELP1):c.1166C>T (p.Ser389Phe)
|
rs745948468
|
0.00002
|
NM_003640.5(ELP1):c.1804C>T (p.Arg602Trp)
|
rs200397694
|
0.00002
|
NM_003640.5(ELP1):c.2258A>G (p.Asn753Ser)
|
rs201601641
|
0.00002
|
NM_003640.5(ELP1):c.23G>A (p.Arg8Gln)
|
rs370041985
|
0.00002
|
NM_003640.5(ELP1):c.2417A>G (p.Tyr806Cys)
|
rs191464698
|
0.00002
|
NM_003640.5(ELP1):c.2587+10C>T
|
rs771045250
|
0.00002
|
NM_003640.5(ELP1):c.2797C>T (p.Arg933Trp)
|
rs763312635
|
0.00002
|
NM_003640.5(ELP1):c.3026T>C (p.Phe1009Ser)
|
rs750563722
|
0.00002
|
NM_003640.5(ELP1):c.3170T>C (p.Val1057Ala)
|
rs147069577
|
0.00002
|
NM_003640.5(ELP1):c.3324C>T (p.Asn1108=)
|
rs372541751
|
0.00002
|
NM_003640.5(ELP1):c.3542A>G (p.Lys1181Arg)
|
rs367582146
|
0.00002
|
NM_003640.5(ELP1):c.3604C>T (p.Arg1202Trp)
|
rs201168521
|
0.00002
|
NM_003640.5(ELP1):c.3827T>C (p.Leu1276Pro)
|
rs558588647
|
0.00002
|
NM_003640.5(ELP1):c.447T>C (p.His149=)
|
rs775602185
|
0.00002
|
NM_003640.5(ELP1):c.866T>C (p.Val289Ala)
|
rs890474380
|
0.00002
|
NM_003738.5(PTCH2):c.19C>G (p.Leu7Val)
|
rs1030456781
|
0.00002
|
NM_003738.5(PTCH2):c.247G>A (p.Glu83Lys)
|
rs781204167
|
0.00002
|
NM_003738.5(PTCH2):c.3347C>T (p.Pro1116Leu)
|
rs539161089
|
0.00002
|
NM_004168.4(SDHA):c.1652C>T (p.Thr551Met)
|
rs181238392
|
0.00002
|
NM_004168.4(SDHA):c.445G>A (p.Ala149Thr)
|
rs575617625
|
0.00002
|
NM_004168.4(SDHA):c.809A>T (p.His270Leu)
|
rs1381228775
|
0.00002
|
NM_016169.4(SUFU):c.275G>C (p.Ser92Thr)
|
rs746322193
|
0.00002
|
NM_017841.4(SDHAF2):c.206G>A (p.Arg69His)
|
rs753474292
|
0.00002
|
NM_022124.6(CDH23):c.3296G>A (p.Arg1099Gln)
|
rs1295355040
|
0.00002
|
NM_022124.6(CDH23):c.446C>T (p.Thr149Met)
|
rs370947344
|
0.00002
|
NM_022124.6(CDH23):c.5117G>A (p.Arg1706His)
|
rs376614796
|
0.00002
|
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter)
|
rs750027965
|
0.00002
|
NM_022124.6(CDH23):c.6004C>G (p.Leu2002Val)
|
rs756459547
|
0.00002
|
NM_022124.6(CDH23):c.6080T>C (p.Ile2027Thr)
|
rs185819621
|
0.00002
|
NM_022124.6(CDH23):c.7177G>A (p.Val2393Met)
|
rs775436759
|
0.00002
|
NM_022124.6(CDH23):c.752C>T (p.Pro251Leu)
|
rs746961144
|
0.00002
|
NM_022124.6(CDH23):c.9970G>A (p.Glu3324Lys)
|
rs763119683
|
0.00002
|
NM_080425.4(GNAS):c.1275C>T (p.Phe425=)
|
rs867492591
|
0.00002
|
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala)
|
rs80358393
|
0.00001
|
NM_000059.4(BRCA2):c.10113T>C (p.Thr3371=)
|
rs779075029
|
0.00001
|
NM_000059.4(BRCA2):c.1179T>C (p.Cys393=)
|
rs786201237
|
0.00001
|
NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr)
|
rs80358488
|
0.00001
|
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr)
|
rs431825296
|
0.00001
|
NM_000059.4(BRCA2):c.2908G>A (p.Asp970Asn)
|
rs397507295
|
0.00001
|
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs)
|
rs80359380
|
0.00001
|
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter)
|
rs80358620
|
0.00001
|
NM_000059.4(BRCA2):c.4478A>G (p.Glu1493Gly)
|
rs80358679
|
0.00001
|
NM_000059.4(BRCA2):c.4535G>A (p.Arg1512His)
|
rs80358685
|
0.00001
|
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs)
|
rs398122783
|
0.00001
|
NM_000059.4(BRCA2):c.464G>C (p.Arg155Thr)
|
rs377639990
|
0.00001
|
NM_000059.4(BRCA2):c.5028T>C (p.Ser1676=)
|
rs762458631
|
0.00001
|
NM_000059.4(BRCA2):c.505A>C (p.Lys169Gln)
|
rs41293467
|
0.00001
|
NM_000059.4(BRCA2):c.5231G>T (p.Ser1744Ile)
|
rs587782060
|
0.00001
|
NM_000059.4(BRCA2):c.5434G>A (p.Glu1812Lys)
|
rs80358767
|
0.00001
|
NM_000059.4(BRCA2):c.5672C>T (p.Ala1891Val)
|
rs397507360
|
0.00001
|
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs)
|
rs80359541
|
0.00001
|
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter)
|
rs80358814
|
0.00001
|
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter)
|
rs80358815
|
0.00001
|
NM_000059.4(BRCA2):c.5962G>A (p.Val1988Ile)
|
rs28897739
|
0.00001
|
NM_000059.4(BRCA2):c.6264T>C (p.Thr2088=)
|
rs750651726
|
0.00001
|
NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr)
|
rs431825344
|
0.00001
|
NM_000059.4(BRCA2):c.6695A>T (p.Lys2232Ile)
|
rs786203098
|
0.00001
|
NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys)
|
rs41293503
|
0.00001
|
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu)
|
rs80358934
|
0.00001
|
NM_000059.4(BRCA2):c.7447A>G (p.Ser2483Gly)
|
rs80358966
|
0.00001
|
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter)
|
rs80358972
|
0.00001
|
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys)
|
rs431825354
|
0.00001
|
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)
|
rs80359013
|
0.00001
|
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)
|
rs80359035
|
0.00001
|
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His)
|
rs41293511
|
0.00001
|
NM_000059.4(BRCA2):c.8297del (p.Thr2766fs)
|
rs80359705
|
0.00001
|
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)
|
rs28897756
|
0.00001
|
NM_000059.4(BRCA2):c.9530A>G (p.Glu3177Gly)
|
rs876658365
|
0.00001
|
NM_000059.4(BRCA2):c.9538C>T (p.Leu3180Phe)
|
rs200598289
|
0.00001
|
NM_000268.4(NF2):c.1232G>A (p.Arg411His)
|
rs201214090
|
0.00001
|
NM_000268.4(NF2):c.1701C>G (p.Asp567Glu)
|
rs1049732514
|
0.00001
|
NM_000268.4(NF2):c.674G>A (p.Arg225Gln)
|
rs543087642
|
0.00001
|
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)
|
rs121909224
|
0.00001
|
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys)
|
rs121913293
|
0.00001
|
NM_000516.7(GNAS):c.111C>T (p.Tyr37=)
|
rs749235261
|
0.00001
|
NM_000516.7(GNAS):c.136C>T (p.Leu46=)
|
rs775009418
|
0.00001
|
NM_000516.7(GNAS):c.258-7A>C
|
rs1183884518
|
0.00001
|
NM_000516.7(GNAS):c.367G>A (p.Glu123Lys)
|
rs769546153
|
0.00001
|
NM_000516.7(GNAS):c.660-15C>A
|
rs755766644
|
0.00001
|
NM_000516.7(GNAS):c.683G>A (p.Arg228His)
|
rs1317816474
|
0.00001
|
NM_000516.7(GNAS):c.738C>T (p.Phe246=)
|
rs772094317
|
0.00001
|
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg)
|
rs730882028
|
0.00001
|
NM_000546.6(TP53):c.1010G>A (p.Arg337His)
|
rs121912664
|
0.00001
|
NM_000546.6(TP53):c.461G>A (p.Gly154Asp)
|
rs762846821
|
0.00001
|
NM_000546.6(TP53):c.524G>A (p.Arg175His)
|
rs28934578
|
0.00001
|
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)
|
rs121912666
|
0.00001
|
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)
|
rs28934575
|
0.00001
|
NM_000546.6(TP53):c.760A>G (p.Ile254Val)
|
rs746601313
|
0.00001
|
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln)
|
rs772551056
|
0.00001
|
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)
|
rs74315366
|
0.00001
|
NM_003000.3(SDHB):c.423+1G>A
|
rs398122805
|
0.00001
|
NM_003000.3(SDHB):c.689G>A (p.Arg230His)
|
rs587782604
|
0.00001
|
NM_003001.5(SDHC):c.128A>G (p.Asn43Ser)
|
rs747349777
|
0.00001
|
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter)
|
rs764575966
|
0.00001
|
NM_003001.5(SDHC):c.436C>A (p.Pro146Thr)
|
rs541660851
|
0.00001
|
NM_003001.5(SDHC):c.82G>T (p.Val28Phe)
|
rs754818119
|
0.00001
|
NM_003002.4(SDHD):c.148C>T (p.His50Tyr)
|
rs779249550
|
0.00001
|
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)
|
rs80338844
|
0.00001
|
NM_003002.4(SDHD):c.335C>T (p.Thr112Ile)
|
rs199869408
|
0.00001
|
NM_003002.4(SDHD):c.421T>C (p.Tyr141His)
|
rs1394514096
|
0.00001
|
NM_003002.4(SDHD):c.431A>G (p.Tyr144Cys)
|
rs745732631
|
0.00001
|
NM_003072.5(SMARCA4):c.1098C>G (p.Ile366Met)
|
rs532242119
|
0.00001
|
NM_003072.5(SMARCA4):c.1813-15A>G
|
rs751661108
|
0.00001
|
NM_003072.5(SMARCA4):c.1889G>A (p.Gly630Asp)
|
rs749533909
|
0.00001
|
NM_003072.5(SMARCA4):c.1940C>T (p.Pro647Leu)
|
rs2087817276
|
0.00001
|
NM_003072.5(SMARCA4):c.2438+4A>C
|
rs771818596
|
0.00001
|
NM_003072.5(SMARCA4):c.2505+14A>G
|
rs779882147
|
0.00001
|
NM_003072.5(SMARCA4):c.326C>T (p.Pro109Leu)
|
rs763471007
|
0.00001
|
NM_003072.5(SMARCA4):c.3396G>A (p.Ala1132=)
|
rs1060504446
|
0.00001
|
NM_003072.5(SMARCA4):c.4210G>A (p.Val1404Ile)
|
rs1555788108
|
0.00001
|
NM_003072.5(SMARCA4):c.422C>T (p.Ser141Leu)
|
rs1060502073
|
0.00001
|
NM_003072.5(SMARCA4):c.4817A>G (p.Gln1606Arg)
|
rs878854231
|
0.00001
|
NM_003072.5(SMARCA4):c.4871C>T (p.Pro1624Leu)
|
rs756255060
|
0.00001
|
NM_003072.5(SMARCA4):c.4876G>A (p.Val1626Met)
|
rs757412819
|
0.00001
|
NM_003072.5(SMARCA4):c.731C>T (p.Pro244Leu)
|
rs587778683
|
0.00001
|
NM_003072.5(SMARCA4):c.829C>T (p.Pro277Ser)
|
rs767947665
|
0.00001
|
NM_003072.5(SMARCA4):c.952G>A (p.Val318Ile)
|
rs758091260
|
0.00001
|
NM_003640.5(ELP1):c.1190-4G>A
|
rs774965847
|
0.00001
|
NM_003640.5(ELP1):c.1263A>G (p.Pro421=)
|
rs371100951
|
0.00001
|
NM_003640.5(ELP1):c.1294C>T (p.His432Tyr)
|
rs773228197
|
0.00001
|
NM_003640.5(ELP1):c.1361-1G>T
|
rs372225464
|
0.00001
|
NM_003640.5(ELP1):c.1909-17C>G
|
rs373498962
|
0.00001
|
NM_003640.5(ELP1):c.1990T>C (p.Cys664Arg)
|
rs762636526
|
0.00001
|
NM_003640.5(ELP1):c.2008T>C (p.Phe670Leu)
|
rs376699949
|
0.00001
|
NM_003640.5(ELP1):c.2065C>T (p.Arg689Trp)
|
rs201390288
|
0.00001
|
NM_003640.5(ELP1):c.2134C>T (p.Pro712Ser)
|
rs370772658
|
0.00001
|
NM_003640.5(ELP1):c.2189G>A (p.Arg730Gln)
|
rs374558203
|
0.00001
|
NM_003640.5(ELP1):c.2243T>G (p.Leu748Arg)
|
rs1034776233
|
0.00001
|
NM_003640.5(ELP1):c.2295A>T (p.Gly765=)
|
rs137874743
|
0.00001
|
NM_003640.5(ELP1):c.22C>T (p.Arg8Trp)
|
rs150202264
|
0.00001
|
NM_003640.5(ELP1):c.2460C>T (p.Cys820=)
|
rs181121832
|
0.00001
|
NM_003640.5(ELP1):c.2461G>A (p.Asp821Asn)
|
rs770590151
|
0.00001
|
NM_003640.5(ELP1):c.2547A>G (p.Pro849=)
|
rs764837607
|
0.00001
|
NM_003640.5(ELP1):c.274G>A (p.Val92Ile)
|
rs757852635
|
0.00001
|
NM_003640.5(ELP1):c.2778A>G (p.Lys926=)
|
rs751179612
|
0.00001
|
NM_003640.5(ELP1):c.2806A>G (p.Ile936Val)
|
rs1239561807
|
0.00001
|
NM_003640.5(ELP1):c.2824C>T (p.Arg942Ter)
|
rs761911009
|
0.00001
|
NM_003640.5(ELP1):c.2847C>T (p.His949=)
|
rs529456133
|
0.00001
|
NM_003640.5(ELP1):c.2932T>C (p.Tyr978His)
|
rs1435854424
|
0.00001
|
NM_003640.5(ELP1):c.3031C>T (p.Arg1011Cys)
|
rs763981711
|
0.00001
|
NM_003640.5(ELP1):c.3040G>A (p.Ala1014Thr)
|
rs770540843
|
0.00001
|
NM_003640.5(ELP1):c.3205T>C (p.Leu1069=)
|
rs112178985
|
0.00001
|
NM_003640.5(ELP1):c.3551A>G (p.His1184Arg)
|
rs201781695
|
0.00001
|
NM_003640.5(ELP1):c.3595A>T (p.Lys1199Ter)
|
rs762224071
|
0.00001
|
NM_003640.5(ELP1):c.3819T>C (p.Ile1273=)
|
rs201242444
|
0.00001
|
NM_003640.5(ELP1):c.3855+18C>T
|
rs557015443
|
0.00001
|
NM_003640.5(ELP1):c.3903G>T (p.Gln1301His)
|
rs200524123
|
0.00001
|
NM_003640.5(ELP1):c.601C>T (p.Arg201Trp)
|
rs773117166
|
0.00001
|
NM_003640.5(ELP1):c.856G>C (p.Glu286Gln)
|
rs777790000
|
0.00001
|
NM_003640.5(ELP1):c.888A>G (p.Ala296=)
|
rs371923882
|
0.00001
|
NM_003738.5(PTCH2):c.109C>T (p.Arg37Cys)
|
rs768246990
|
0.00001
|
NM_003738.5(PTCH2):c.550G>A (p.Val184Met)
|
rs748846701
|
0.00001
|
NM_003977.4(AIP):c.792C>T (p.Asn264=)
|
rs780707460
|
0.00001
|
NM_004168.4(SDHA):c.1078G>A (p.Glu360Lys)
|
rs766779919
|
0.00001
|
NM_004168.4(SDHA):c.1150T>G (p.Ser384Ala)
|
rs776888362
|
0.00001
|
NM_004168.4(SDHA):c.1429C>T (p.Pro477Ser)
|
rs770506764
|
0.00001
|
NM_004168.4(SDHA):c.1432_1432+1del
|
rs878854627
|
0.00001
|
NM_004168.4(SDHA):c.1483A>G (p.Asn495Asp)
|
rs757663708
|
0.00001
|
NM_004168.4(SDHA):c.1627T>C (p.Tyr543His)
|
rs1339009840
|
0.00001
|
NM_004168.4(SDHA):c.1663+1G>T
|
rs766667009
|
0.00001
|
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)
|
rs200397144
|
0.00001
|
NM_004168.4(SDHA):c.1798C>T (p.Arg600Trp)
|
rs878854630
|
0.00001
|
NM_004168.4(SDHA):c.1928C>G (p.Pro643Arg)
|
rs1060503717
|
0.00001
|
NM_004168.4(SDHA):c.1949A>G (p.Asn650Ser)
|
rs1485747007
|
0.00001
|
NM_004168.4(SDHA):c.340A>G (p.Met114Val)
|
rs933414586
|
0.00001
|
NM_004168.4(SDHA):c.466T>G (p.Tyr156Asp)
|
rs569384870
|
0.00001
|
NM_004168.4(SDHA):c.584G>A (p.Arg195Gln)
|
rs762956849
|
0.00001
|
NM_004168.4(SDHA):c.585G>C (p.Arg195=)
|
rs766339992
|
0.00001
|
NM_004168.4(SDHA):c.694C>T (p.Arg232Cys)
|
rs878854635
|
0.00001
|
NM_004168.4(SDHA):c.812C>G (p.Thr271Ser)
|
rs765611464
|
0.00001
|
NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys)
|
rs182055219
|
0.00001
|
NM_004168.4(SDHA):c.919A>G (p.Ile307Val)
|
rs200632016
|
0.00001
|
NM_004168.4(SDHA):c.92G>A (p.Arg31Gln)
|
rs752532780
|
0.00001
|
NM_004168.4(SDHA):c.954C>T (p.Leu318=)
|
rs1412623947
|
0.00001
|
NM_005154.5(USP8):c.2108C>A (p.Pro703His)
|
rs766783893
|
0.00001
|
NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg)
|
rs778125780
|
0.00001
|
NM_016169.4(SUFU):c.256G>A (p.Glu86Lys)
|
rs770989077
|
0.00001
|
NM_017841.4(SDHAF2):c.497G>A (p.Arg166His)
|
rs768048172
|
0.00001
|
NM_022124.6(CDH23):c.1305G>C (p.Glu435Asp)
|
rs770510708
|
0.00001
|
NM_022124.6(CDH23):c.1339A>G (p.Lys447Glu)
|
rs767345324
|
0.00001
|
NM_022124.6(CDH23):c.1607G>A (p.Arg536Gln)
|
rs376414013
|
0.00001
|
NM_022124.6(CDH23):c.1874G>A (p.Arg625His)
|
rs200907423
|
0.00001
|
NM_022124.6(CDH23):c.2122T>G (p.Ser708Ala)
|
rs764332602
|
0.00001
|
NM_022124.6(CDH23):c.2189C>T (p.Thr730Ile)
|
rs755812129
|
0.00001
|
NM_022124.6(CDH23):c.2767G>A (p.Gly923Ser)
|
rs560251790
|
0.00001
|
NM_022124.6(CDH23):c.2870G>A (p.Arg957His)
|
rs748047907
|
0.00001
|
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys)
|
rs745571683
|
0.00001
|
NM_022124.6(CDH23):c.3593T>C (p.Val1198Ala)
|
rs759990271
|
0.00001
|
NM_022124.6(CDH23):c.5852A>T (p.Asp1951Val)
|
rs1299758893
|
0.00001
|
NM_022124.6(CDH23):c.5945A>G (p.Asn1982Ser)
|
rs555432123
|
0.00001
|
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)
|
rs183431253
|
0.00001
|
NM_022124.6(CDH23):c.6323T>C (p.Ile2108Thr)
|
rs1198525214
|
0.00001
|
NM_022124.6(CDH23):c.6829+3A>G
|
rs780258798
|
0.00001
|
NM_022124.6(CDH23):c.7145G>A (p.Arg2382Gln)
|
rs759439688
|
0.00001
|
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu)
|
rs121908354
|
0.00001
|
NM_022124.6(CDH23):c.8957T>C (p.Ile2986Thr)
|
rs753997469
|
0.00001
|
NM_080425.4(GNAS):c.1323C>T (p.Pro441=)
|
rs146744182
|
0.00001
|
NM_080425.4(GNAS):c.98C>A (p.Ala33Asp)
|
rs746548577
|
0.00001
|
NM_000059.3(BRCA2):c.9403del (p.Leu3135fs)
|
rs80359760
|
|
NM_000059.4(BRCA2):c.1001A>G (p.His334Arg)
|
rs587782016
|
|
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter)
|
rs80358391
|
|
NM_000059.4(BRCA2):c.1146A>T (p.Lys382Asn)
|
rs431825280
|
|
NM_000059.4(BRCA2):c.1282C>A (p.Leu428Ile)
|
rs547590567
|
|
NM_000059.4(BRCA2):c.1304G>A (p.Arg435Lys)
|
rs398122725
|
|
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter)
|
rs80358427
|
|
NM_000059.4(BRCA2):c.1433C>A (p.Thr478Lys)
|
rs431825282
|
|
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)
|
rs80358435
|
|
NM_000059.4(BRCA2):c.1517T>C (p.Phe506Ser)
|
rs1249900164
|
|
NM_000059.4(BRCA2):c.15del (p.Glu7fs)
|
rs1064795072
|
|
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs)
|
rs80359302
|
|
NM_000059.4(BRCA2):c.1794_1798del
|
rs276174813
|
|
NM_000059.4(BRCA2):c.1889del (p.Thr630fs)
|
rs80359315
|
|
NM_000059.4(BRCA2):c.1905T>G (p.Asp635Glu)
|
rs1555282154
|
|
NM_000059.4(BRCA2):c.1909+1G>A
|
rs587781629
|
|
NM_000059.4(BRCA2):c.2150del (p.Cys717fs)
|
rs397507618
|
|
NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter)
|
rs80358494
|
|
NM_000059.4(BRCA2):c.2231C>T (p.Ser744Leu)
|
rs397507282
|
|
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly)
|
rs80358495
|
|
NM_000059.4(BRCA2):c.2249A>T (p.Asp750Val)
|
rs1555282574
|
|
NM_000059.4(BRCA2):c.2405A>G (p.Asn802Ser)
|
rs876661089
|
|
NM_000059.4(BRCA2):c.2464T>C (p.Cys822Arg)
|
rs80358512
|
|
NM_000059.4(BRCA2):c.2657A>G (p.Asn886Ser)
|
rs80358526
|
|
NM_000059.4(BRCA2):c.3020G>T (p.Gly1007Val)
|
rs1566227648
|
|
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter)
|
rs80358557
|
|
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs)
|
rs80359403
|
|
NM_000059.4(BRCA2):c.3808G>A (p.Val1270Ile)
|
rs876658938
|
|
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)
|
rs80359405
|
|
NM_000059.4(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter)
|
rs80359429
|
|
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter)
|
rs397507327
|
|
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)
|
rs80359439
|
|
NM_000059.4(BRCA2):c.4310G>C (p.Ser1437Thr)
|
rs1403318277
|
|
NM_000059.4(BRCA2):c.4396T>A (p.Leu1466Ile)
|
rs1555283763
|
|
NM_000059.4(BRCA2):c.4574A>G (p.His1525Arg)
|
rs397507336
|
|
NM_000059.4(BRCA2):c.4793_4794del (p.Leu1598fs)
|
rs2137510225
|
|
NM_000059.4(BRCA2):c.4825A>G (p.Thr1609Ala)
|
rs876659201
|
|
NM_000059.4(BRCA2):c.4914dup (p.Val1639fs)
|
rs786203494
|
|
NM_000059.4(BRCA2):c.5025T>C (p.Cys1675=)
|
rs370591460
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
NM_000059.4(BRCA2):c.5229_5231del (p.Ser1744del)
|
rs397507349
|
|
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter)
|
rs80359499
|
|
NM_000059.4(BRCA2):c.5290_5291del (p.Ser1764fs)
|
rs80359503
|
|
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs)
|
rs80359525
|
|
NM_000059.4(BRCA2):c.5661G>A (p.Thr1887=)
|
rs80359793
|
|
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)
|
rs41293497
|
|
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)
|
rs80359530
|
|
NM_000059.4(BRCA2):c.5747A>G (p.His1916Arg)
|
rs431825334
|
|
NM_000059.4(BRCA2):c.574_575del (p.Met192fs)
|
rs80359533
|
|
NM_000059.4(BRCA2):c.5791C>T (p.Gln1931Ter)
|
rs80358807
|
|
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter)
|
rs80358809
|
|
NM_000059.4(BRCA2):c.5986G>T (p.Ala1996Ser)
|
rs80358833
|
|
NM_000059.4(BRCA2):c.6030C>A (p.Val2010=)
|
rs786201328
|
|
NM_000059.4(BRCA2):c.610dup (p.Leu204fs)
|
rs80359560
|
|
NM_000059.4(BRCA2):c.6148G>A (p.Val2050Ile)
|
rs80358854
|
|
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs)
|
rs80359593
|
|
NM_000059.4(BRCA2):c.6530T>C (p.Ile2177Thr)
|
rs1060502462
|
|
NM_000059.4(BRCA2):c.6566dup (p.Asn2189fs)
|
rs397507373
|
|
NM_000059.4(BRCA2):c.658_659del (p.Val220fs)
|
rs80359604
|
|
NM_000059.4(BRCA2):c.6600_6601del (p.Phe2200_Ser2201insTer)
|
rs80359607
|
|
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter)
|
rs80358893
|
|
NM_000059.4(BRCA2):c.68-7dup
|
rs276174878
|
|
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs)
|
rs587781803
|
|
NM_000059.4(BRCA2):c.6818G>A (p.Arg2273Lys)
|
rs587782174
|
|
NM_000059.4(BRCA2):c.6826C>A (p.Pro2276Thr)
|
rs80358907
|
|
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)
|
rs80358920
|
|
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)
|
rs28897743
|
|
NM_000059.4(BRCA2):c.7163C>T (p.Thr2388Ile)
|
rs1555286026
|
|
NM_000059.4(BRCA2):c.7420GAA[2] (p.Glu2476del)
|
rs876659222
|
|
NM_000059.4(BRCA2):c.7617+2T>G
|
rs81002843
|
|
NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met)
|
rs80358989
|
|
NM_000059.4(BRCA2):c.7693G>A (p.Glu2565Lys)
|
rs764761862
|
|
NM_000059.4(BRCA2):c.7781A>G (p.Lys2594Arg)
|
rs876660874
|
|
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)
|
rs80359014
|
|
NM_000059.4(BRCA2):c.7954G>A (p.Val2652Met)
|
rs1466452770
|
|
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val)
|
rs80359031
|
|
NM_000059.4(BRCA2):c.7992T>G (p.Ile2664Met)
|
rs80359800
|
|
NM_000059.4(BRCA2):c.8007A>T (p.Arg2669Ser)
|
rs143999963
|
|
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)
|
rs397507954
|
|
NM_000059.4(BRCA2):c.8332-1G>A
|
rs397507979
|
|
NM_000059.4(BRCA2):c.8332-1G>C
|
rs397507979
|
|
NM_000059.4(BRCA2):c.8488-1G>A
|
rs397507404
|
|
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter)
|
rs397507409
|
|
NM_000059.4(BRCA2):c.8817G>C (p.Lys2939Asn)
|
rs397507414
|
|
NM_000059.4(BRCA2):c.8904del (p.Val2969fs)
|
rs80359730
|
|
NM_000059.4(BRCA2):c.9052_9057del (p.3015KS[2])
|
rs786202063
|
|
NM_000059.4(BRCA2):c.9071A>C (p.Asn3024Thr)
|
rs587781493
|
|
NM_000059.4(BRCA2):c.9113_9115dup (p.Leu3038dup)
|
rs80359749
|
|
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly)
|
rs80359186
|
|
NM_000059.4(BRCA2):c.9252_9255delinsTT (p.Lys3084fs)
|
rs276174918
|
|
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)
|
rs80359752
|
|
NM_000059.4(BRCA2):c.9275A>T (p.Tyr3092Phe)
|
rs80359195
|
|
NM_000059.4(BRCA2):c.9295A>G (p.Asn3099Asp)
|
rs1555289516
|
|
NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter)
|
rs397508045
|
|
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs)
|
rs80359763
|
|
NM_000268.4(NF2):c.1243A>G (p.Thr415Ala)
|
rs776970251
|
|
NM_000268.4(NF2):c.215T>C (p.Val72Ala)
|
rs1260510937
|
|
NM_000314.6(PTEN):c.-868G>C
|
rs587782133
|
|
NM_000314.8(PTEN):c.-752G>A
|
rs1256922808
|
|
NM_000314.8(PTEN):c.-752GGC[4]
|
rs933847861
|
|
NM_000314.8(PTEN):c.-822G>T
|
rs587779993
|
|
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)
|
rs121909231
|
|
NM_000314.8(PTEN):c.1189C>T (p.His397Tyr)
|
rs1589669413
|
|
NM_000314.8(PTEN):c.202T>C (p.Tyr68His)
|
rs398123317
|
|
NM_000314.8(PTEN):c.209+1G>A
|
rs1554897280
|
|
NM_000314.8(PTEN):c.209T>C (p.Leu70Pro)
|
rs121909226
|
|
NM_000314.8(PTEN):c.253+2T>A
|
rs1224040268
|
|
NM_000314.8(PTEN):c.404T>A (p.Ile135Lys)
|
rs370795352
|
|
NM_000314.8(PTEN):c.488A>G (p.Lys163Arg)
|
rs786202753
|
|
NM_000314.8(PTEN):c.512A>G (p.Gln171Arg)
|
rs786204865
|
|
NM_000314.8(PTEN):c.593T>C (p.Met198Thr)
|
rs1554900635
|
|
NM_000314.8(PTEN):c.634+5G>A
|
rs138336847
|
|
NM_000314.8(PTEN):c.741dup (p.Pro248fs)
|
rs587782341
|
|
NM_000314.8(PTEN):c.802-3dup
|
rs34003473
|
|
NM_000314.8(PTEN):c.802-4_802-3dup
|
rs34003473
|
|
NM_000314.8(PTEN):c.860C>G (p.Ser287Ter)
|
rs863224909
|
|
NM_000314.8(PTEN):c.862G>A (p.Glu288Lys)
|
rs1554825528
|
|
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn)
|
rs587780007
|
|
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys)
|
rs1064794436
|
|
NM_000516.7(GNAS):c.1A>G (p.Met1Val)
|
rs137854530
|
|
NM_000516.7(GNAS):c.348dup (p.Val117fs)
|
rs2090848106
|
|
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter)
|
rs797045046
|
|
NM_000516.7(GNAS):c.432C>T (p.Pro144=)
|
rs11554266
|
|
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)
|
rs587776829
|
|
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys)
|
rs1601162438
|
|
NM_000516.7(GNAS):c.75G>A (p.Lys25=)
|
rs1326256762
|
|
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter)
|
rs1057518907
|
|
NM_000516.7(GNAS):c.91C>T (p.Gln31Ter)
|
rs2089384365
|
|
NM_000516.7(GNAS):c.985G>A (p.Gly329Arg)
|
rs1394557997
|
|
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)
|
rs730882029
|
|
NM_000546.6(TP53):c.389T>C (p.Leu130Pro)
|
rs1131691013
|
|
NM_000546.6(TP53):c.559+1G>A
|
rs1131691042
|
|
NM_000546.6(TP53):c.677G>C (p.Gly226Ala)
|
rs970212462
|
|
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)
|
rs28934573
|
|
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)
|
rs55832599
|
|
NM_000546.6(TP53):c.817C>G (p.Arg273Gly)
|
rs121913343
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000546.6(TP53):c.818G>T (p.Arg273Leu)
|
rs28934576
|
|
NM_000546.6(TP53):c.845G>C (p.Arg282Pro)
|
rs730882008
|
|
NM_000546.6(TP53):c.96+1G>T
|
rs1131691003
|
|
NM_001126049.2(KLLN):c.-736G>C
|
rs1554889801
|
|
NM_001126049.2(KLLN):c.-828C>T
|
rs786203674
|
|
NM_001387283.1(SMARCA4):c.4255C>T (p.Arg1419Cys)
|
rs1056234449
|
|
NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter)
|
rs397514554
|
|
NM_001904.4(CTNNB1):c.1571A>G (p.His524Arg)
|
rs1376864427
|
|
NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter)
|
rs775104326
|
|
NM_003000.3(SDHB):c.166_170del (p.Pro56fs)
|
rs786202100
|
|
NM_003000.3(SDHB):c.193C>T (p.Leu65Phe)
|
rs786202185
|
|
NM_003000.3(SDHB):c.379A>C (p.Ile127Leu)
|
rs201372280
|
|
NM_003000.3(SDHB):c.424-37TTC[10]
|
rs34261028
|
|
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter)
|
rs876658461
|
|
NM_003001.5(SDHC):c.7G>T (p.Ala3Ser)
|
rs748243732
|
|
NM_003002.4(SDHD):c.175T>C (p.Ser59Pro)
|
rs1592780294
|
|
NM_003002.4(SDHD):c.315-1G>A
|
rs1555187566
|
|
NM_003002.4(SDHD):c.337_340del (p.Asp113fs)
|
rs587776648
|
|
NM_003072.5(SMARCA4):c.1108C>T (p.Arg370Cys)
|
rs1436490540
|
|
NM_003072.5(SMARCA4):c.120C>T (p.His40=)
|
rs375884151
|
|
NM_003072.5(SMARCA4):c.2275-3C>T
|
rs117611401
|
|
NM_003072.5(SMARCA4):c.407C>T (p.Ala136Val)
|
rs535299273
|
|
NM_003072.5(SMARCA4):c.4170+17C>T
|
rs145829956
|
|
NM_003072.5(SMARCA4):c.4376C>T (p.Thr1459Ile)
|
rs1555788341
|
|
NM_003072.5(SMARCA4):c.4636-10C>A
|
rs878854228
|
|
NM_003072.5(SMARCA4):c.709G>A (p.Gly237Ser)
|
rs1555753727
|
|
NM_003640.5(ELP1):c.116A>G (p.His39Arg)
|
rs2132052820
|
|
NM_003640.5(ELP1):c.1181T>C (p.Ile394Thr)
|
rs571143526
|
|
NM_003640.5(ELP1):c.1352A>G (p.Tyr451Cys)
|
rs1829196320
|
|
NM_003640.5(ELP1):c.1436CTC[1] (p.Pro480del)
|
rs746116617
|
|
NM_003640.5(ELP1):c.1461-1G>T
|
rs539544212
|
|
NM_003640.5(ELP1):c.1613T>C (p.Met538Thr)
|
rs1388151143
|
|
NM_003640.5(ELP1):c.1644-13dup
|
rs756059162
|
|
NM_003640.5(ELP1):c.1730A>G (p.Gln577Arg)
|
rs879254309
|
|
NM_003640.5(ELP1):c.1735T>C (p.Phe579Leu)
|
rs199555804
|
|
NM_003640.5(ELP1):c.1854+1G>A
|
rs1554696934
|
|
NM_003640.5(ELP1):c.1940A>T (p.Tyr647Phe)
|
rs1828805989
|
|
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro)
|
rs137853022
|
|
NM_003640.5(ELP1):c.2092G>A (p.Val698Ile)
|
rs1828721515
|
|
NM_003640.5(ELP1):c.209G>T (p.Arg70Leu)
|
rs111936933
|
|
NM_003640.5(ELP1):c.2283+11_2283+15del
|
rs778115996
|
|
NM_003640.5(ELP1):c.2322_2325del (p.Asp775fs)
|
rs1341613149
|
|
NM_003640.5(ELP1):c.2374G>A (p.Val792Ile)
|
rs546587836
|
|
NM_003640.5(ELP1):c.2501+4T>G
|
rs1405951778
|
|
NM_003640.5(ELP1):c.2826A>T (p.Arg942=)
|
rs780726202
|
|
NM_003640.5(ELP1):c.2908T>A (p.Leu970Met)
|
rs180931232
|
|
NM_003640.5(ELP1):c.2908T>C (p.Leu970=)
|
rs180931232
|
|
NM_003640.5(ELP1):c.2992C>G (p.Gln998Glu)
|
rs1828328786
|
|
NM_003640.5(ELP1):c.304-2A>G
|
rs757972943
|
|
NM_003640.5(ELP1):c.3061G>T (p.Ala1021Ser)
|
rs1296107083
|
|
NM_003640.5(ELP1):c.3069G>A (p.Leu1023=)
|
rs1063110
|
|
NM_003640.5(ELP1):c.3382_3385del (p.Thr1128fs)
|
rs769748960
|
|
NM_003640.5(ELP1):c.3461A>G (p.Asp1154Gly)
|
rs202165319
|
|
NM_003640.5(ELP1):c.3572+5G>A
|
rs773132143
|
|
NM_003640.5(ELP1):c.3790C>T (p.Gln1264Ter)
|
rs1827767235
|
|
NM_003640.5(ELP1):c.3831_3834del (p.Tyr1278fs)
|
rs1446325480
|
|
NM_003640.5(ELP1):c.3977G>A (p.Trp1326Ter)
|
rs1554735724
|
|
NM_003640.5(ELP1):c.602G>A (p.Arg201Gln)
|
rs367552387
|
|
NM_003640.5(ELP1):c.85G>A (p.Glu29Lys)
|
rs977172542
|
|
NM_003640.5(ELP1):c.958+19_958+20delinsAT
|
rs2132024951
|
|
NM_003640.5(ELP1):c.983A>C (p.Tyr328Ser)
|
rs750663365
|
|
NM_004168.4(SDHA):c.1273G>A (p.Val425Met)
|
rs201822097
|
|
NM_004168.4(SDHA):c.13C>T (p.Arg5Trp)
|
rs770866830
|
|
NM_004168.4(SDHA):c.14G>A (p.Arg5Gln)
|
rs779027774
|
|
NM_004168.4(SDHA):c.1535G>A (p.Arg512Gln)
|
rs192818312
|
|
NM_004168.4(SDHA):c.1579del (p.Arg527fs)
|
rs1579437839
|
|
NM_004168.4(SDHA):c.1663+1G>A
|
rs766667009
|
|
NM_004168.4(SDHA):c.169G>T (p.Val57Leu)
|
rs1060503724
|
|
NM_004168.4(SDHA):c.204C>T (p.Gly68=)
|
rs1055082816
|
|
NM_004168.4(SDHA):c.2T>G (p.Met1Arg)
|
rs750380279
|
|
NM_004168.4(SDHA):c.365A>G (p.His122Arg)
|
rs1579384131
|
|
NM_004168.4(SDHA):c.40C>T (p.Arg14Trp)
|
rs1192077362
|
|
NM_004168.4(SDHA):c.456+1G>A
|
rs1579384604
|
|
NM_004168.4(SDHA):c.484del (p.Arg162fs)
|
rs1734988578
|
|
NM_004168.4(SDHA):c.559C>T (p.His187Tyr)
|
rs1579385898
|
|
NM_004168.4(SDHA):c.688del (p.Glu230fs)
|
rs1553998199
|
|
NM_004168.4(SDHA):c.762_770+17del
|
rs1041809852
|
|
NM_004168.4(SDHA):c.994C>T (p.Pro332Ser)
|
rs373509391
|
|
NM_004168.4(SDHA):c.997G>C (p.Val333Leu)
|
rs1062468
|
|
NM_016169.4(SUFU):c.1090C>T (p.Arg364Trp)
|
rs1305395503
|
|
NM_016169.4(SUFU):c.664C>G (p.Leu222Val)
|
rs765345575
|
|
NM_017841.4(SDHAF2):c.370+4C>G
|
rs758935566
|
|
NM_022124.6(CDH23):c.1143_1176del
|
rs764949139
|
|
NM_022124.6(CDH23):c.1270G>A (p.Val424Met)
|
rs2305207
|
|
NM_022124.6(CDH23):c.1417G>A (p.Val473Ile)
|
rs771847607
|
|
NM_022124.6(CDH23):c.2745C>G (p.Ile915Met)
|
rs183220886
|
|
NM_022124.6(CDH23):c.2842G>T (p.Val948Phe)
|
rs2132740122
|
|
NM_022124.6(CDH23):c.2863C>A (p.Arg955Ser)
|
rs765094120
|
|
NM_022124.6(CDH23):c.2863C>T (p.Arg955Cys)
|
rs765094120
|
|
NM_022124.6(CDH23):c.2864G>A (p.Arg955His)
|
rs758293939
|
|
NM_022124.6(CDH23):c.3330C>G (p.Ser1110Arg)
|
rs371962929
|
|
NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT
|
rs1589384283
|
|
NM_022124.6(CDH23):c.4617+5G>C
|
rs772189237
|
|
NM_022124.6(CDH23):c.5116C>T (p.Arg1706Cys)
|
rs759876454
|
|
NM_022124.6(CDH23):c.5130C>T (p.Ile1710=)
|
rs111033487
|
|
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu)
|
rs74145660
|
|
NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu)
|
rs537236734
|
|
NM_022124.6(CDH23):c.7113C>T (p.Thr2371=)
|
rs747544364
|
|
NM_022124.6(CDH23):c.778G>T (p.Ala260Ser)
|
rs373294595
|
|
NM_022124.6(CDH23):c.7849G>C (p.Gly2617Arg)
|
rs369379727
|
|
NM_022124.6(CDH23):c.8120_8121delinsTT (p.Pro2707Leu)
|
rs876657422
|
|
NM_022124.6(CDH23):c.8121G>T (p.Pro2707=)
|
rs377535432
|
|
NM_022124.6(CDH23):c.8229C>T (p.Arg2743=)
|
rs372996083
|
|
NM_022124.6(CDH23):c.8498G>A (p.Arg2833His)
|
rs534575559
|
|
NM_022124.6(CDH23):c.9885C>T (p.Thr3295=)
|
rs1382062973
|
|
NM_080425.4(GNAS):c.1130G>T (p.Gly377Val)
|
rs778121381
|
|
NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro)
|
rs767104257
|
|
NM_080425.4(GNAS):c.1428C>G (p.Ala476=)
|
rs559714658
|
|
NM_080425.4(GNAS):c.628G>C (p.Ala210Pro)
|
rs61749696
|
|