ClinVar Miner

List of variants studied for central nervous system neoplasm by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 768
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HGVS dbSNP gnomAD frequency
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

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