ClinVar Miner

List of variants studied for brain neoplasm

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2469
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HGVS dbSNP gnomAD frequency
NM_003977.4(AIP):c.920= (p.Arg307=) rs4930199 0.99984
NM_003977.4(AIP):c.682C>A (p.Gln228Lys) rs641081 0.84113
NM_022124.6(CDH23):c.4206+131T>C rs1227061 0.77987
NM_022124.6(CDH23):c.146-125T>C rs2297953 0.74120
NM_016169.4(SUFU):c.1365+19T>C rs12414407 0.68248
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_022124.6(CDH23):c.1134+164C>G rs7903772 0.61986
NM_022124.6(CDH23):c.1135-128A>G rs10823810 0.51167
NM_016169.4(SUFU):c.182+16C>T rs2274351 0.46492
NM_022124.6(CDH23):c.832+101G>A rs6480531 0.42446
NM_022124.6(CDH23):c.5187+99T>C rs10762481 0.39527
NM_022124.6(CDH23):c.624+64C>T rs7087735 0.34986
NM_022124.6(CDH23):c.7055-16A>G rs4747193 0.34615
NM_016169.4(SUFU):c.*1122C>T rs11596235 0.23724
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_016169.4(SUFU):c.*2585T>C rs11191355 0.20858
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala) rs1227049 0.20047
NM_016169.4(SUFU):c.*2668C>T rs11594179 0.17207
NM_016169.4(SUFU):c.*1373C>T rs17114808 0.14776
NM_016169.4(SUFU):c.*391A>G rs2298278 0.14670
NM_016169.4(SUFU):c.1299T>C (p.Ile433=) rs17114803 0.14628
NM_016169.4(SUFU):c.*1715A>G rs11818043 0.14606
NM_016169.4(SUFU):c.*1633C>T rs17114810 0.14323
NM_022124.6(CDH23):c.1449+130T>C rs2305209 0.14152
NM_000548.5(TSC2):c.482-3C>T rs1800720 0.12927
NM_080425.4(GNAS):c.1307C>A (p.Ala436Asp) rs61749698 0.07665
NM_016169.4(SUFU):c.-178C>T rs113962600 0.05045
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_016169.4(SUFU):c.*1675G>A rs41287466 0.03346
NM_003977.4(AIP):c.516C>T (p.Asp172=) rs2276020 0.03152
NM_003977.4(AIP):c.132C>T (p.Asp44=) rs11822907 0.02357
NM_022124.6(CDH23):c.429+18T>C rs141451003 0.02288
NM_003640.5(ELP1):c.959-15C>T rs112114410 0.01906
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_016169.4(SUFU):c.*3086A>G rs73342651 0.01014
NM_016169.4(SUFU):c.*1672A>G rs117196884 0.01007
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_016169.4(SUFU):c.*205G>A rs115428806 0.00961
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_000546.6(TP53):c.97-6C>T rs35117667 0.00847
NM_016169.4(SUFU):c.*118C>T rs2298277 0.00835
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_000516.7(GNAS):c.951C>T (p.Arg317=) rs75561530 0.00680
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser) rs34135067 0.00646
NM_016169.4(SUFU):c.*3290C>G rs112808377 0.00612
NM_000516.7(GNAS):c.384G>A (p.Val128=) rs3730166 0.00609
NM_003977.4(AIP):c.*64G>A rs115346238 0.00596
NM_016169.4(SUFU):c.-33C>T rs201649559 0.00587
NM_000516.7(GNAS):c.366C>T (p.Pro122=) rs35287986 0.00583
NM_003977.4(AIP):c.*60G>C rs146014363 0.00566
NM_003977.4(AIP):c.891C>A (p.Ala297=) rs35665586 0.00545
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_016169.4(SUFU):c.1291T>C (p.Leu431=) rs141950577 0.00487
NM_016169.4(SUFU):c.*2157C>T rs181690906 0.00474
NM_000059.4(BRCA2):c.7008-62A>G rs76584943 0.00439
NM_080425.4(GNAS):c.1221C>G (p.Thr407=) rs200430001 0.00433
NM_016169.4(SUFU):c.210T>C (p.Tyr70=) rs35166585 0.00430
NM_016169.4(SUFU):c.12G>A (p.Leu4=) rs189234140 0.00425
NM_016169.4(SUFU):c.*2720C>T rs41287468 0.00417
NM_016169.4(SUFU):c.*505T>G rs116570216 0.00412
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_022153.2(VSIR):c.839C>T (p.Ser280Leu) rs143240262 0.00376
NM_016169.4(SUFU):c.*2172G>A rs540579682 0.00367
NM_003977.4(AIP):c.100-18C>T rs202156895 0.00359
NM_016169.4(SUFU):c.*3268G>C rs150653416 0.00308
NM_004304.5(ALK):c.3837-9_3837-7dup rs373764155 0.00279
NM_016169.4(SUFU):c.*61G>A rs184505927 0.00249
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_003640.5(ELP1):c.2204+18G>C rs115641835 0.00213
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_003977.4(AIP):c.47G>A (p.Arg16His) rs145047094 0.00197
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_003738.5(PTCH2):c.3363A>G (p.Ile1121Met) rs11573598 0.00155
NM_016169.4(SUFU):c.528C>T (p.His176=) rs150569584 0.00148
NM_016169.4(SUFU):c.910+14C>T rs202247757 0.00139
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500 0.00136
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371 0.00123
NM_016169.4(SUFU):c.600C>T (p.Ile200=) rs149513330 0.00116
NM_003977.4(AIP):c.68G>A (p.Gly23Glu) rs116940576 0.00115
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
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_003977.4(AIP):c.-84C>G rs540839310 0.00086
NM_003977.4(AIP):c.301G>A (p.Val101Met) rs147931650 0.00085
NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly) rs149685738 0.00084
NM_016169.4(SUFU):c.412G>A (p.Ala138Thr) rs34406289 0.00078
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_001904.4(CTNNB1):c.1683+17A>G rs2276826 0.00068
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp) rs376271562 0.00068
NM_016169.4(SUFU):c.*476A>G rs575192580 0.00066
NM_003977.4(AIP):c.896C>T (p.Ala299Val) rs148986773 0.00065
NM_003977.4(AIP):c.-23A>G rs200665479 0.00064
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_003977.4(AIP):c.807C>T (p.Phe269=) rs139407567 0.00055
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_003977.4(AIP):c.382C>T (p.Arg128Cys) rs140530307 0.00054
NM_003640.5(ELP1):c.2204+6T>C rs111033171 0.00051
NM_001146079.2(CLDN14):c.185A>G (p.Tyr62Cys) rs148223897 0.00048
NM_001370259.2(MEN1):c.*470A>G rs778272737 0.00048
NM_003640.5(ELP1):c.1913C>T (p.Ala638Val) rs144370288 0.00048
NM_022124.6(CDH23):c.832+8A>G rs56129333 0.00048
NM_016169.4(SUFU):c.*2729T>C rs574630127 0.00045
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_016169.4(SUFU):c.1084C>T (p.Arg362Cys) rs36049457 0.00039
NM_003640.5(ELP1):c.909C>G (p.Val303=) rs142420285 0.00038
NM_003977.4(AIP):c.36G>A (p.Gly12=) rs79662690 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_003977.4(AIP):c.517G>A (p.Glu173Lys) rs138902236 0.00034
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter) rs17847577 0.00033
NM_016169.4(SUFU):c.*2956C>T rs562546771 0.00033
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_016169.4(SUFU):c.198C>T (p.Asp66=) rs189500468 0.00031
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) rs370074117 0.00031
NM_016169.4(SUFU):c.318-17C>A rs201198734 0.00029
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578 0.00028
NM_001375883.1(GPR161):c.-5T>A rs200635937 0.00028
NM_016169.4(SUFU):c.*1936C>T rs118033896 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_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_004716.4(PCSK7):c.1678C>G (p.Arg560Gly) rs202038275 0.00023
NM_016169.4(SUFU):c.50C>T (p.Ala17Val) rs12780580 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_016169.4(SUFU):c.*1997A>G rs757368847 0.00021
NM_016169.4(SUFU):c.6G>T (p.Ala2=) rs746555296 0.00021
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) rs550384315 0.00021
NM_016169.4(SUFU):c.1445C>T (p.Pro482Leu) rs765358771 0.00020
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val) rs374362883 0.00020
NM_016169.4(SUFU):c.*2140G>T rs543282016 0.00019
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_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_016169.4(SUFU):c.1308C>T (p.Thr436=) rs142029957 0.00018
NM_000516.7(GNAS):c.530+11G>A rs74474807 0.00017
NM_016169.4(SUFU):c.880G>A (p.Gly294Ser) rs143807689 0.00017
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_003977.4(AIP):c.753G>A (p.Leu251=) rs147351993 0.00016
NM_016169.4(SUFU):c.255C>T (p.Pro85=) rs113671745 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_000546.6(TP53):c.672+18G>C rs199578278 0.00014
NM_003640.5(ELP1):c.3417G>C (p.Leu1139Phe) rs202080366 0.00014
NM_016169.4(SUFU):c.*721T>G rs2298279 0.00014
NM_016169.4(SUFU):c.1058C>T (p.Thr353Met) rs137880855 0.00014
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln) rs145704867 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_000516.7(GNAS):c.1038+17_1038+20del rs773644530 0.00013
NM_000516.7(GNAS):c.213-11C>T rs369370389 0.00013
NM_001370259.2(MEN1):c.913-42G>C rs529037188 0.00013
NM_003977.4(AIP):c.906G>A (p.Val302=) rs142912418 0.00013
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_003977.4(AIP):c.733G>A (p.Glu245Lys) rs150645662 0.00012
NM_004304.5(ALK):c.1283-5T>C rs377214413 0.00012
NM_016169.4(SUFU):c.1297-13T>C rs557592503 0.00012
NM_003640.5(ELP1):c.1073G>A (p.Arg358Gln) rs139091484 0.00011
NM_003977.4(AIP):c.974G>A (p.Arg325Gln) rs754619109 0.00011
NM_016169.4(SUFU):c.*1451C>T rs886046659 0.00011
NM_016169.4(SUFU):c.1121A>G (p.Asn374Ser) rs1265012285 0.00011
NM_016169.4(SUFU):c.1232C>T (p.Thr411Met) rs368020224 0.00011
NM_016169.4(SUFU):c.1245C>T (p.Gly415=) rs144158469 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_003640.5(ELP1):c.3593G>A (p.Arg1198Gln) rs200322331 0.00010
NM_003640.5(ELP1):c.520G>A (p.Glu174Lys) rs758924768 0.00010
NM_016169.4(SUFU):c.*2195G>T rs781227748 0.00010
NM_022124.6(CDH23):c.3115G>A (p.Val1039Met) rs781597943 0.00010
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn) rs191021194 0.00010
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 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_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_016169.4(SUFU):c.1045A>G (p.Ser349Gly) rs368178771 0.00009
NM_016169.4(SUFU):c.1272C>T (p.Tyr424=) rs771084342 0.00009
NM_016169.4(SUFU):c.183-20_183-19del rs763795960 0.00009
NM_016169.4(SUFU):c.879C>T (p.Ile293=) rs370516021 0.00009
NM_022124.6(CDH23):c.1205C>T (p.Pro402Leu) rs373168635 0.00009
NM_022124.6(CDH23):c.1213G>A (p.Val405Ile) rs370549448 0.00009
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn) rs188376296 0.00009
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) rs756147087 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_003640.5(ELP1):c.3917C>T (p.Ser1306Leu) rs780649768 0.00008
NM_003977.4(AIP):c.205A>G (p.Lys69Glu) rs141223463 0.00008
NM_004304.5(ALK):c.1550A>G (p.His517Arg) rs367674546 0.00008
NM_016169.4(SUFU):c.*907C>G rs886046655 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.2578G>A (p.Glu860Lys) rs137983175 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_003977.4(AIP):c.572G>A (p.Arg191His) rs141826817 0.00007
NM_003977.4(AIP):c.609C>T (p.Tyr203=) rs146317385 0.00007
NM_004304.5(ALK):c.3115G>A (p.Val1039Met) rs200080181 0.00007
NM_004304.5(ALK):c.3160G>A (p.Gly1054Ser) rs375889530 0.00007
NM_016169.4(SUFU):c.1023-20T>C rs373445321 0.00007
NM_016169.4(SUFU):c.625C>T (p.His209Tyr) rs770678862 0.00007
NM_022124.6(CDH23):c.2953G>C (p.Val985Leu) rs374964318 0.00007
NM_022124.6(CDH23):c.336+1G>A rs764824311 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_003640.5(ELP1):c.1400C>A (p.Ala467Asp) rs368040993 0.00006
NM_003640.5(ELP1):c.3259G>A (p.Ala1087Thr) rs61749203 0.00006
NM_003977.4(AIP):c.145G>A (p.Val49Met) rs1063385 0.00006
NM_003977.4(AIP):c.967C>T (p.Arg323Trp) rs188965257 0.00006
NM_004304.5(ALK):c.2633-3C>T rs200341945 0.00006
NM_016169.4(SUFU):c.*520G>A rs757315966 0.00006
NM_016169.4(SUFU):c.1105G>A (p.Val369Ile) rs149449923 0.00006
NM_016169.4(SUFU):c.1113G>A (p.Leu371=) rs745349651 0.00006
NM_016169.4(SUFU):c.1273G>A (p.Ala425Thr) rs748099523 0.00006
NM_016169.4(SUFU):c.38C>T (p.Thr13Ile) rs768935165 0.00006
NM_016169.4(SUFU):c.757-20C>T rs370544916 0.00006
NM_016169.4(SUFU):c.911-7G>A rs558661774 0.00006
NM_016169.4(SUFU):c.925C>T (p.Arg309Trp) rs148160011 0.00006
NM_020975.6(RET):c.604G>A (p.Val202Met) rs751572082 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.4562A>G (p.Asn1521Ser) rs780987516 0.00006
NM_022124.6(CDH23):c.4625G>A (p.Gly1542Asp) rs781339262 0.00006
NM_022124.6(CDH23):c.6050-15G>A rs373838930 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.7362G>A (p.Thr2454=) rs370983472 0.00006
NM_022124.6(CDH23):c.8344G>A (p.Asp2782Asn) rs202147495 0.00006
NM_022124.6(CDH23):c.8644T>C (p.Phe2882Leu) rs761210350 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_016169.4(SUFU):c.1059G>A (p.Thr353=) rs780683814 0.00005
NM_016169.4(SUFU):c.183-4G>A rs766044613 0.00005
NM_016169.4(SUFU):c.43C>A (p.Pro15Thr) rs761921681 0.00005
NM_016169.4(SUFU):c.992G>A (p.Arg331Gln) rs141359583 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_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_001146079.2(CLDN14):c.427G>A (p.Val143Met) rs776564488 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.3151A>G (p.Thr1051Ala) rs148548795 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.135C>T (p.Asp45=) rs181969066 0.00004
NM_003977.4(AIP):c.355C>T (p.Arg119Trp) rs368933035 0.00004
NM_003977.4(AIP):c.584T>C (p.Val195Ala) rs267606561 0.00004
NM_003977.4(AIP):c.692C>T (p.Thr231Met) rs532170807 0.00004
NM_003977.4(AIP):c.70G>C (p.Glu24Gln) rs267606568 0.00004
NM_004656.4(BAP1):c.1147C>T (p.Arg383Cys) rs201844078 0.00004
NM_016169.4(SUFU):c.*2267G>T rs886046660 0.00004
NM_016169.4(SUFU):c.1147C>G (p.Leu383Val) rs991500079 0.00004
NM_016169.4(SUFU):c.1297-16C>T rs763761235 0.00004
NM_016169.4(SUFU):c.183-17T>C rs767300975 0.00004
NM_016169.4(SUFU):c.537G>A (p.Leu179=) rs139580429 0.00004
NM_016169.4(SUFU):c.777C>T (p.Ile259=) rs749533220 0.00004
NM_016169.4(SUFU):c.855C>T (p.Asp285=) rs200206997 0.00004
NM_016169.4(SUFU):c.866G>A (p.Arg289Gln) rs149016373 0.00004
NM_016169.4(SUFU):c.991C>T (p.Arg331Trp) rs768170991 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.9566G>A (p.Arg3189Gln) rs727502936 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_032043.3(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097 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_000516.7(GNAS):c.1131C>T (p.Asn377=) rs140075370 0.00003
NM_000516.7(GNAS):c.660-19C>T rs370723643 0.00003
NM_001370259.2(MEN1):c.*412G>A rs972128957 0.00003
NM_002070.4(GNAI2):c.879G>A (p.Gly293=) rs143863348 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.2803A>T (p.Thr935Ser) rs145484092 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.4C>T (p.Arg2Ter) rs926177767 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.-5G>C rs267606562 0.00003
NM_003977.4(AIP):c.406G>T (p.Ala136Ser) rs775549178 0.00003
NM_003977.4(AIP):c.563G>A (p.Arg188Gln) rs866556486 0.00003
NM_003977.4(AIP):c.573C>T (p.Arg191=) rs781545373 0.00003
NM_003977.4(AIP):c.591G>A (p.Glu197=) rs202006716 0.00003
NM_003977.4(AIP):c.965C>T (p.Ala322Val) rs267606586 0.00003
NM_004304.5(ALK):c.2194G>A (p.Asp732Asn) rs768366852 0.00003
NM_004525.3(LRP2):c.13753C>T (p.Arg4585Ter) rs202057289 0.00003
NM_016169.4(SUFU):c.*2643C>G rs886046663 0.00003
NM_016169.4(SUFU):c.*376G>A rs866120174 0.00003
NM_016169.4(SUFU):c.*915G>C rs886046656 0.00003
NM_016169.4(SUFU):c.1006G>A (p.Ala336Thr) rs746448939 0.00003
NM_016169.4(SUFU):c.109A>G (p.Ile37Val) rs745793517 0.00003
NM_016169.4(SUFU):c.1157+3G>A rs764861812 0.00003
NM_016169.4(SUFU):c.126C>G (p.Arg42=) rs779935477 0.00003
NM_016169.4(SUFU):c.1366-8C>T rs1212706214 0.00003
NM_016169.4(SUFU):c.1428C>T (p.Asp476=) rs777069460 0.00003
NM_016169.4(SUFU):c.1446G>A (p.Pro482=) rs761389038 0.00003
NM_016169.4(SUFU):c.411C>T (p.Pro137=) rs946508687 0.00003
NM_016169.4(SUFU):c.474G>A (p.Gly158=) rs375178556 0.00003
NM_016169.4(SUFU):c.506A>G (p.Asn169Ser) rs142672533 0.00003
NM_016169.4(SUFU):c.543G>A (p.Glu181=) rs1211026296 0.00003
NM_016169.4(SUFU):c.666G>T (p.Leu222=) rs142383792 0.00003
NM_016169.4(SUFU):c.873C>T (p.Ile291=) rs763453891 0.00003
NM_016169.4(SUFU):c.896G>A (p.Arg299Gln) rs374946819 0.00003
NM_016169.4(SUFU):c.96G>C (p.Pro32=) rs1483435746 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.6013G>T (p.Asp2005Tyr) rs587781760 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_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_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_002734.5(PRKAR1A):c.329C>T (p.Ala110Val) rs1194755479 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.1672A>G (p.Ile558Val) rs772705478 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.2390A>G (p.Tyr797Cys) rs1181862976 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.382A>G (p.Thr128Ala) rs774585995 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_003977.4(AIP):c.366C>T (p.Cys122=) rs748883061 0.00002
NM_003977.4(AIP):c.383G>A (p.Arg128His) rs267606550 0.00002
NM_003977.4(AIP):c.40C>T (p.Gln14Ter) rs104894194 0.00002
NM_003977.4(AIP):c.415G>T (p.Asp139Tyr) rs138312605 0.00002
NM_003977.4(AIP):c.727G>T (p.Val243Leu) rs1385147597 0.00002
NM_003977.4(AIP):c.784G>A (p.Asp262Asn) rs758918509 0.00002
NM_003977.4(AIP):c.908G>A (p.Ser303Asn) rs1006697477 0.00002
NM_004304.5(ALK):c.1582G>A (p.Ala528Thr) rs758494304 0.00002
NM_016169.4(SUFU):c.*1908C>G rs764234968 0.00002
NM_016169.4(SUFU):c.*3025T>C rs896765914 0.00002
NM_016169.4(SUFU):c.*844G>A rs1032441274 0.00002
NM_016169.4(SUFU):c.1008C>T (p.Ala336=) rs770049693 0.00002
NM_016169.4(SUFU):c.1010A>G (p.His337Arg) rs377274250 0.00002
NM_016169.4(SUFU):c.1157+7G>A rs371548374 0.00002
NM_016169.4(SUFU):c.1190A>G (p.Tyr397Cys) rs766508656 0.00002
NM_016169.4(SUFU):c.1221G>A (p.Thr407=) rs555064651 0.00002
NM_016169.4(SUFU):c.1280A>G (p.His427Arg) rs771305734 0.00002
NM_016169.4(SUFU):c.1300C>T (p.Leu434=) rs369670140 0.00002
NM_016169.4(SUFU):c.1325A>G (p.Lys442Arg) rs772598739 0.00002
NM_016169.4(SUFU):c.1437C>T (p.Phe479=) rs768454343 0.00002
NM_016169.4(SUFU):c.169A>G (p.Ile57Val) rs377614167 0.00002
NM_016169.4(SUFU):c.225G>T (p.Arg75Ser) rs141532626 0.00002
NM_016169.4(SUFU):c.275G>C (p.Ser92Thr) rs746322193 0.00002
NM_016169.4(SUFU):c.405A>G (p.Thr135=) rs760827494 0.00002
NM_016169.4(SUFU):c.441C>T (p.Tyr147=) rs201489422 0.00002
NM_016169.4(SUFU):c.455-18C>T rs760955559 0.00002
NM_016169.4(SUFU):c.597+6G>A rs1038799345 0.00002
NM_016169.4(SUFU):c.671G>A (p.Arg224Gln) rs199673680 0.00002
NM_016169.4(SUFU):c.678G>A (p.Val226=) rs201328407 0.00002
NM_016169.4(SUFU):c.67C>T (p.Pro23Ser) rs766666529 0.00002
NM_016169.4(SUFU):c.682A>G (p.Ile228Val) rs555976050 0.00002
NM_016169.4(SUFU):c.683+8C>T rs369232884 0.00002
NM_016169.4(SUFU):c.684-14T>G rs2063433799 0.00002
NM_016169.4(SUFU):c.684-17C>G rs1454924481 0.00002
NM_016169.4(SUFU):c.703A>G (p.Ile235Val) rs144666812 0.00002
NM_016169.4(SUFU):c.715C>A (p.Arg239=) rs369465986 0.00002
NM_016169.4(SUFU):c.807C>T (p.Val269=) rs919110211 0.00002
NM_016169.4(SUFU):c.892C>T (p.Arg298Trp) rs771255988 0.00002
NM_016169.4(SUFU):c.911-16A>C rs777832144 0.00002
NM_016169.4(SUFU):c.926G>A (p.Arg309Gln) rs770246373 0.00002
NM_016169.4(SUFU):c.928G>A (p.Glu310Lys) rs376797758 0.00002
NM_016169.4(SUFU):c.949G>A (p.Glu317Lys) rs988284678 0.00002
NM_022124.6(CDH23):c.1515-12G>A rs369396703 0.00002
NM_022124.6(CDH23):c.2729A>G (p.Tyr910Cys) rs557257494 0.00002
NM_022124.6(CDH23):c.2959G>A (p.Asp987Asn) rs770665588 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.6085C>T (p.Arg2029Trp) rs750880909 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_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) rs121913293 0.00001
NM_000314.8(PTEN):c.518G>A (p.Arg173His) rs121913294 0.00001
NM_000321.3(RB1):c.2356C>T (p.Pro786Ser) rs754507551 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.601C>T (p.Arg201Cys) rs11554273 0.00001
NM_000516.7(GNAS):c.602G>A (p.Arg201His) rs121913495 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.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.395A>G (p.Lys132Arg) rs1057519996 0.00001
NM_000546.6(TP53):c.461G>A (p.Gly154Asp) rs762846821 0.00001
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) rs148924904 0.00001
NM_000546.6(TP53):c.523C>T (p.Arg175Cys) rs138729528 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000546.6(TP53):c.535C>T (p.His179Tyr) rs587780070 0.00001
NM_000546.6(TP53):c.536A>G (p.His179Arg) rs1057519991 0.00001
NM_000546.6(TP53):c.578A>C (p.His193Pro) rs786201838 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.711G>A (p.Met237Ile) rs587782664 0.00001
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) rs730882005 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_000546.6(TP53):c.824G>A (p.Cys275Tyr) rs863224451 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173 0.00001
NM_001370259.2(MEN1):c.784-129T>A rs536461697 0.00001
NM_001375883.1(GPR161):c.1196A>G (p.Gln399Arg) rs1412562086 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.2951A>G (p.Gln984Arg) rs371186754 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.100-6C>A rs539027647 0.00001
NM_003977.4(AIP):c.115C>T (p.Arg39Trp) rs781366620 0.00001
NM_003977.4(AIP):c.140G>A (p.Gly47Asp) rs1164577485 0.00001
NM_003977.4(AIP):c.144C>T (p.Thr48=) rs772658134 0.00001
NM_003977.4(AIP):c.160C>T (p.Arg54Trp) rs752553438 0.00001
NM_003977.4(AIP):c.166C>T (p.Arg56Cys) rs267606538 0.00001
NM_003977.4(AIP):c.174G>C (p.Lys58Asn) rs267606539 0.00001
NM_003977.4(AIP):c.316C>T (p.Arg106Cys) rs369414668 0.00001
NM_003977.4(AIP):c.419C>T (p.Ala140Val) rs762219351 0.00001
NM_003977.4(AIP):c.468+3G>A rs868823652 0.00001
NM_003977.4(AIP):c.469-17T>C rs886037872 0.00001
NM_003977.4(AIP):c.476G>A (p.Ser159Asn) rs536239840 0.00001
NM_003977.4(AIP):c.571C>T (p.Arg191Cys) rs189861025 0.00001
NM_003977.4(AIP):c.721A>G (p.Lys241Glu) rs267606573 0.00001
NM_003977.4(AIP):c.73C>T (p.Leu25Phe) rs777083581 0.00001
NM_003977.4(AIP):c.745G>A (p.Glu249Lys) rs1313811815 0.00001
NM_003977.4(AIP):c.783C>T (p.Tyr261=) rs267606576 0.00001
NM_003977.4(AIP):c.792C>T (p.Asn264=) rs780707460 0.00001
NM_003977.4(AIP):c.79G>C (p.Asp27His) rs1024903808 0.00001
NM_003977.4(AIP):c.910C>T (p.Arg304Ter) rs104894195 0.00001
NM_003977.4(AIP):c.944A>C (p.Gln315Pro) rs886048585 0.00001
NM_004304.5(ALK):c.1193A>G (p.Asn398Ser) rs754512910 0.00001
NM_004304.5(ALK):c.3271G>A (p.Asp1091Asn) rs864309584 0.00001
NM_005154.5(USP8):c.2108C>A (p.Pro703His) rs766783893 0.00001
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) rs121913499 0.00001
NM_005896.4(IDH1):c.395G>A (p.Arg132His) rs121913500 0.00001
NM_016169.4(SUFU):c.*1145A>G rs1190732664 0.00001
NM_016169.4(SUFU):c.*2278C>G rs530131484 0.00001
NM_016169.4(SUFU):c.*2475C>T rs886046661 0.00001
NM_016169.4(SUFU):c.*3045A>G rs185874880 0.00001
NM_016169.4(SUFU):c.*305C>A rs1430494184 0.00001
NM_016169.4(SUFU):c.*405G>A rs2063829258 0.00001
NM_016169.4(SUFU):c.1003C>T (p.Leu335Phe) rs757401093 0.00001
NM_016169.4(SUFU):c.1005C>T (p.Leu335=) rs575246362 0.00001
NM_016169.4(SUFU):c.1011C>T (p.His337=) rs747747662 0.00001
NM_016169.4(SUFU):c.1015C>T (p.Arg339Trp) rs773037813 0.00001
NM_016169.4(SUFU):c.1016G>A (p.Arg339Gln) rs369910221 0.00001
NM_016169.4(SUFU):c.1022+12A>G rs2063496960 0.00001
NM_016169.4(SUFU):c.1022+14T>C rs758576759 0.00001
NM_016169.4(SUFU):c.1022+16T>C rs764272302 0.00001
NM_016169.4(SUFU):c.1022+6T>C rs1216584462 0.00001
NM_016169.4(SUFU):c.1022C>T (p.Pro341Leu) rs587778699 0.00001
NM_016169.4(SUFU):c.1023-16T>C rs762717407 0.00001
NM_016169.4(SUFU):c.1023-18C>A rs892399500 0.00001
NM_016169.4(SUFU):c.1027C>T (p.Arg343Cys) rs751728820 0.00001
NM_016169.4(SUFU):c.1030A>C (p.Lys344Gln) rs1590082116 0.00001
NM_016169.4(SUFU):c.1042G>C (p.Glu348Gln) rs1447671524 0.00001
NM_016169.4(SUFU):c.1055C>A (p.Ser352Tyr) rs1464341550 0.00001
NM_016169.4(SUFU):c.1073A>G (p.His358Arg) rs1432365875 0.00001
NM_016169.4(SUFU):c.107C>T (p.Ala36Val) rs566714720 0.00001
NM_016169.4(SUFU):c.1085G>A (p.Arg362His) rs755390277 0.00001
NM_016169.4(SUFU):c.1088C>T (p.Thr363Met) rs1554854578 0.00001
NM_016169.4(SUFU):c.1089G>A (p.Thr363=) rs1438357532 0.00001
NM_016169.4(SUFU):c.1089G>T (p.Thr363=) rs1438357532 0.00001
NM_016169.4(SUFU):c.1091G>A (p.Arg364Gln) rs749802616 0.00001
NM_016169.4(SUFU):c.1104C>T (p.Ser368=) rs746580970 0.00001
NM_016169.4(SUFU):c.1131C>T (p.Ser377=) rs775396007 0.00001
NM_016169.4(SUFU):c.1146T>G (p.Pro382=) rs1159204850 0.00001
NM_016169.4(SUFU):c.1150T>A (p.Cys384Ser) rs375419295 0.00001
NM_016169.4(SUFU):c.1157+14C>A rs2063675828 0.00001
NM_016169.4(SUFU):c.1157+6C>T rs535323089 0.00001
NM_016169.4(SUFU):c.1157G>A (p.Arg386Lys) rs767814106 0.00001
NM_016169.4(SUFU):c.1158-8A>G rs749166919 0.00001
NM_016169.4(SUFU):c.1176A>G (p.Gly392=) rs771819487 0.00001
NM_016169.4(SUFU):c.1177C>T (p.Arg393Trp) rs201326378 0.00001
NM_016169.4(SUFU):c.1188A>C (p.Thr396=) rs1418070936 0.00001
NM_016169.4(SUFU):c.1191T>C (p.Tyr397=) rs895235845 0.00001
NM_016169.4(SUFU):c.1217T>C (p.Ile406Thr) rs1554854758 0.00001
NM_016169.4(SUFU):c.1218C>A (p.Ile406=) rs1416629342 0.00001
NM_016169.4(SUFU):c.1227C>G (p.Val409=) rs753190647 0.00001
NM_016169.4(SUFU):c.123C>T (p.Cys41=) rs1412892420 0.00001
NM_016169.4(SUFU):c.124C>T (p.Arg42Cys) rs2062292519 0.00001
NM_016169.4(SUFU):c.1275G>A (p.Ala425=) rs771832461 0.00001
NM_016169.4(SUFU):c.1296+9G>T rs759664715 0.00001
NM_016169.4(SUFU):c.1309G>A (p.Glu437Lys) rs766370528 0.00001
NM_016169.4(SUFU):c.1317T>C (p.Phe439=) rs748603932 0.00001
NM_016169.4(SUFU):c.1326A>C (p.Lys442Asn) rs1311816626 0.00001
NM_016169.4(SUFU):c.1329G>A (p.Met443Ile) rs773805575 0.00001
NM_016169.4(SUFU):c.135C>T (p.Tyr45=) rs1342856960 0.00001
NM_016169.4(SUFU):c.1362G>A (p.Glu454=) rs771380823 0.00001
NM_016169.4(SUFU):c.1365+13G>C rs1370046167 0.00001
NM_016169.4(SUFU):c.1366-18T>C rs778922691 0.00001
NM_016169.4(SUFU):c.1366-4A>G rs201139426 0.00001
NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg) rs778125780 0.00001
NM_016169.4(SUFU):c.1386C>T (p.Tyr462=) rs2063824214 0.00001
NM_016169.4(SUFU):c.1388G>A (p.Ser463Asn) rs147404195 0.00001
NM_016169.4(SUFU):c.13C>T (p.Arg5Trp) rs948353979 0.00001
NM_016169.4(SUFU):c.1429G>A (p.Val477Met) rs1060501117 0.00001
NM_016169.4(SUFU):c.1455G>A (p.Ter485=) rs773021913 0.00001
NM_016169.4(SUFU):c.146C>T (p.Pro49Leu) rs1479128337 0.00001
NM_016169.4(SUFU):c.166G>T (p.Ala56Ser) rs200061483 0.00001
NM_016169.4(SUFU):c.178T>C (p.Tyr60His) rs2062294197 0.00001
NM_016169.4(SUFU):c.180C>T (p.Tyr60=) rs776945270 0.00001
NM_016169.4(SUFU):c.182+11G>A rs766984305 0.00001
NM_016169.4(SUFU):c.182+8C>G rs751208244 0.00001
NM_016169.4(SUFU):c.183-13T>G rs749913059 0.00001
NM_016169.4(SUFU):c.217A>C (p.Met73Leu) rs1183694060 0.00001
NM_016169.4(SUFU):c.252C>A (p.Ile84=) rs1437282528 0.00001
NM_016169.4(SUFU):c.256G>A (p.Glu86Lys) rs770989077 0.00001
NM_016169.4(SUFU):c.267C>T (p.His89=) rs1236109627 0.00001
NM_016169.4(SUFU):c.26C>A (p.Ala9Asp) rs775491374 0.00001
NM_016169.4(SUFU):c.26C>T (p.Ala9Val) rs775491374 0.00001
NM_016169.4(SUFU):c.279C>T (p.Phe93=) rs770218907 0.00001
NM_016169.4(SUFU):c.296A>G (p.Tyr99Cys) rs1464640869 0.00001
NM_016169.4(SUFU):c.300T>A (p.Gly100=) rs775876798 0.00001
NM_016169.4(SUFU):c.304A>G (p.Asn102Asp) rs1564657066 0.00001
NM_016169.4(SUFU):c.30C>T (p.Pro10=) rs1315277679 0.00001
NM_016169.4(SUFU):c.316G>A (p.Glu106Lys) rs1040654062 0.00001
NM_016169.4(SUFU):c.317+15C>A rs760470575 0.00001
NM_016169.4(SUFU):c.318-11A>C rs1485269392 0.00001
NM_016169.4(SUFU):c.318-7C>G rs751778806 0.00001
NM_016169.4(SUFU):c.318G>T (p.Glu106Asp) rs1188593672 0.00001
NM_016169.4(SUFU):c.322A>G (p.Thr108Ala) rs1425171528 0.00001
NM_016169.4(SUFU):c.329C>G (p.Thr110Arg) rs1171604398 0.00001
NM_016169.4(SUFU):c.363C>A (p.Thr121=) rs910976342 0.00001
NM_016169.4(SUFU):c.368G>A (p.Arg123His) rs745958724 0.00001
NM_016169.4(SUFU):c.38C>G (p.Thr13Ser) rs768935165 0.00001
NM_016169.4(SUFU):c.427G>A (p.Gly143Ser) rs1590019047 0.00001
NM_016169.4(SUFU):c.436C>T (p.Arg146Ter) rs1060501109 0.00001
NM_016169.4(SUFU):c.437G>A (p.Arg146Gln) rs764847917 0.00001
NM_016169.4(SUFU):c.444G>A (p.Val148=) rs757424197 0.00001
NM_016169.4(SUFU):c.454+11dup rs756465918 0.00001
NM_016169.4(SUFU):c.45C>T (p.Pro15=) rs767543227 0.00001
NM_016169.4(SUFU):c.477C>T (p.Asp159=) rs2063415176 0.00001
NM_016169.4(SUFU):c.480T>C (p.His160=) rs1308247295 0.00001
NM_016169.4(SUFU):c.529A>G (p.Met177Val) rs758672583 0.00001
NM_016169.4(SUFU):c.53C>G (p.Pro18Arg) rs1489443369 0.00001
NM_016169.4(SUFU):c.55G>A (p.Gly19Ser) rs1207697890 0.00001
NM_016169.4(SUFU):c.561C>T (p.Pro187=) rs769503197 0.00001
NM_016169.4(SUFU):c.562G>A (p.Val188Met) rs1462013962 0.00001
NM_016169.4(SUFU):c.579G>A (p.Gly193=) rs1590061953 0.00001
NM_016169.4(SUFU):c.591C>T (p.Phe197=) rs748830496 0.00001
NM_016169.4(SUFU):c.597+12G>T rs200418460 0.00001
NM_016169.4(SUFU):c.597+18C>T rs761796540 0.00001
NM_016169.4(SUFU):c.598-12C>T rs768142814 0.00001
NM_016169.4(SUFU):c.5C>T (p.Ala2Val) rs1589969719 0.00001
NM_016169.4(SUFU):c.601G>A (p.Val201Ile) rs147695965 0.00001
NM_016169.4(SUFU):c.602T>C (p.Val201Ala) rs772840788 0.00001
NM_016169.4(SUFU):c.609C>T (p.Val203=) rs1267238528 0.00001
NM_016169.4(SUFU):c.615T>C (p.Thr205=) rs1187200623 0.00001
NM_016169.4(SUFU):c.637C>G (p.Gln213Glu) rs907135467 0.00001
NM_016169.4(SUFU):c.644A>G (p.Asn215Ser) rs1178631893 0.00001
NM_016169.4(SUFU):c.645C>T (p.Asn215=) rs551772204 0.00001
NM_016169.4(SUFU):c.64G>C (p.Ala22Pro) rs1564654422 0.00001
NM_016169.4(SUFU):c.65C>G (p.Ala22Gly) rs761240106 0.00001
NM_016169.4(SUFU):c.683+12T>C rs1164701799 0.00001
NM_016169.4(SUFU):c.683+17G>A rs1027742260 0.00001
NM_016169.4(SUFU):c.684-12C>T rs1211187751 0.00001
NM_016169.4(SUFU):c.684-9T>C rs746032665 0.00001
NM_016169.4(SUFU):c.68C>T (p.Pro23Leu) rs2062290972 0.00001
NM_016169.4(SUFU):c.690C>T (p.Gly230=) rs775675385 0.00001
NM_016169.4(SUFU):c.691G>A (p.Gly231Ser) rs1457485957 0.00001
NM_016169.4(SUFU):c.693C>A (p.Gly231=) rs200885602 0.00001
NM_016169.4(SUFU):c.726G>A (p.Glu242=) rs1166474720 0.00001
NM_016169.4(SUFU):c.728C>A (p.Thr243Asn) rs544734275 0.00001
NM_016169.4(SUFU):c.742G>A (p.Asp248Asn) rs1283509771 0.00001
NM_016169.4(SUFU):c.750C>A (p.His250Gln) rs1235137905 0.00001
NM_016169.4(SUFU):c.753G>A (p.Leu251=) rs2063435526 0.00001
NM_016169.4(SUFU):c.756+10G>C rs764838079 0.00001
NM_016169.4(SUFU):c.756A>G (p.Gln252=) rs1317467424 0.00001
NM_016169.4(SUFU):c.778G>A (p.Glu260Lys) rs775245784 0.00001
NM_016169.4(SUFU):c.811G>T (p.Ala271Ser) rs762258680 0.00001
NM_016169.4(SUFU):c.827A>G (p.Asp276Gly) rs772598822 0.00001
NM_016169.4(SUFU):c.838C>T (p.Arg280Trp) rs761003435 0.00001
NM_016169.4(SUFU):c.842C>T (p.Pro281Leu) rs752387760 0.00001
NM_016169.4(SUFU):c.843C>T (p.Pro281=) rs1590066015 0.00001
NM_016169.4(SUFU):c.845C>A (p.Pro282His) rs2063472026 0.00001
NM_016169.4(SUFU):c.846C>T (p.Pro282=) rs762558038 0.00001
NM_016169.4(SUFU):c.848A>G (p.Glu283Gly) rs763598499 0.00001
NM_016169.4(SUFU):c.849G>A (p.Glu283=) rs751057597 0.00001
NM_016169.4(SUFU):c.84G>T (p.Ser28=) rs376752468 0.00001
NM_016169.4(SUFU):c.856G>A (p.Glu286Lys) rs564728455 0.00001
NM_016169.4(SUFU):c.872T>C (p.Ile291Thr) rs587778698 0.00001
NM_016169.4(SUFU):c.894G>T (p.Arg298=) rs372636246 0.00001
NM_016169.4(SUFU):c.904G>A (p.Gly302Ser) rs1164574977 0.00001
NM_016169.4(SUFU):c.910+20A>G rs1442018997 0.00001
NM_016169.4(SUFU):c.910+8C>G rs1159461161 0.00001
NM_016169.4(SUFU):c.910+9C>T rs998413406 0.00001
NM_016169.4(SUFU):c.911-19C>T rs1053684007 0.00001
NM_016169.4(SUFU):c.933C>A (p.Thr311=) rs767071744 0.00001
NM_016169.4(SUFU):c.943G>A (p.Gly315Arg) rs141737156 0.00001
NM_016169.4(SUFU):c.948C>G (p.Leu316=) rs1236947004 0.00001
NM_016169.4(SUFU):c.957C>G (p.Asn319Lys) rs535845342 0.00001
NM_016169.4(SUFU):c.967G>A (p.Val323Ile) rs1420089970 0.00001
NM_016169.4(SUFU):c.96G>A (p.Pro32=) rs1483435746 0.00001
NM_016169.4(SUFU):c.975A>G (p.Pro325=) rs1045258578 0.00001
NM_016169.4(SUFU):c.979A>G (p.Ile327Val) rs752846043 0.00001
NM_016169.4(SUFU):c.987T>C (p.Pro329=) rs906267027 0.00001
NM_016169.4(SUFU):c.98G>C (p.Gly33Ala) rs1391787041 0.00001
NM_016169.4(SUFU):c.994C>G (p.Gln332Glu) rs747125633 0.00001
NM_016169.4(SUFU):c.9G>A (p.Glu3=) rs561651427 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.1752+1G>A rs1347367555 0.00001
NM_022124.6(CDH23):c.1874G>A (p.Arg625His) rs200907423 0.00001
NM_022124.6(CDH23):c.1886A>T (p.Tyr629Phe) rs1297047638 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.2289+1G>A rs769433759 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.2968G>A (p.Asp990Asn) rs771766431 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.4206+1G>A rs1204500829 0.00001
NM_022124.6(CDH23):c.5584G>A (p.Glu1862Lys) rs773004408 0.00001
NM_022124.6(CDH23):c.5712G>A (p.Thr1904=) rs397517342 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.6319C>T (p.Arg2107Ter) rs1306728898 0.00001
NM_022124.6(CDH23):c.6323T>C (p.Ile2108Thr) rs1198525214 0.00001
NM_022124.6(CDH23):c.6344G>A (p.Arg2115His) rs1270566026 0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_022124.6(CDH23):c.6696del (p.Ala2232_Val2233insTer) rs1278603247 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.7362+5G>A rs727502931 0.00001
NM_022124.6(CDH23):c.7899C>G (p.Tyr2633Ter) rs1375264465 0.00001
NM_022124.6(CDH23):c.805C>T (p.Arg269Trp) rs936479651 0.00001
NM_022124.6(CDH23):c.8146del (p.Asp2716fs) rs1564804195 0.00001
NM_022124.6(CDH23):c.8803C>T (p.Arg2935Ter) rs1190307769 0.00001
NM_022124.6(CDH23):c.8957T>C (p.Ile2986Thr) rs753997469 0.00001
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln) rs121908355 0.00001
NM_022124.6(CDH23):c.9886G>A (p.Asp3296Asn) rs372388344 0.00001
NM_080425.4(GNAS):c.1200C>A (p.Ala400=) rs908810796 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
NC_000010.10:g.(?_104262628)_(104309873_?)dup
NC_000010.10:g.(?_104262628)_(104595248_?)del
NC_000010.10:g.(?_104262628)_(104595248_?)dup
NC_000010.10:g.(?_104263900)_(104389922_?)del
NC_000010.10:g.(?_104352329)_(104352491_?)del
NC_000010.10:g.(?_104352329)_(104353832_?)del
NC_000010.10:g.(?_104352329)_(104377195_?)dup
NC_000010.10:g.(?_104375015)_(104389912_?)del
NC_000010.10:g.(?_104386922)_(104392580_?)del
NC_000010.11:(102444036_?)_(?_104726221)del
NC_000010.11:g.(?_102504143)_(102550116_?)del
NC_000010.11:g.(?_102549960)_(102550116_?)del
NC_000010.11:g.(?_102593630)_(102597299_?)del
NM_000051.4(ATM):c.611G>T (p.Gly204Val) rs1555066451
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.4478_4481del (p.Glu1493fs) rs80359454
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.5645C>G (p.Ser1882Ter) rs80358785
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.8817_8820del (p.Lys2939fs) rs397508010
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_000179.3(MSH6):c.2722G>T (p.Glu908Ter) rs886056144
NM_000264.5(PTCH1):c.1237C>T (p.Gln413Ter) rs2118338419
NM_000264.5(PTCH1):c.2244del (p.Ala749fs) rs1564032829
NM_000268.4(NF2):c.575A>G (p.Tyr192Cys) rs1555993319
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000420.3(KEL):c.604G>A (p.Gly202Ser) rs2116680039
NM_000420.3(KEL):c.961C>T (p.Gln321Ter) rs980885552
NM_000455.5(STK11):c.1284G>C (p.Ser428=) rs369097329
NM_000516.5:c.(?_-424)_(257_?)dup
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.680A>G (p.Gln227Arg) rs121913494
NM_000516.7(GNAS):c.681G>C (p.Gln227His) rs137854533
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.1140del (p.His380fs) rs1555524108
NM_000546.6(TP53):c.373A>C (p.Thr125Pro) rs1057520003
NM_000546.6(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_000546.6(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.6(TP53):c.389T>C (p.Leu130Pro) rs1131691013
NM_000546.6(TP53):c.394A>C (p.Lys132Gln) rs747342068
NM_000546.6(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.6(TP53):c.395A>C (p.Lys132Thr) rs1057519996
NM_000546.6(TP53):c.395A>T (p.Lys132Met) rs1057519996
NM_000546.6(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_000546.6(TP53):c.403T>A (p.Cys135Ser) rs1057519975
NM_000546.6(TP53):c.403T>C (p.Cys135Arg) rs1057519975
NM_000546.6(TP53):c.403T>G (p.Cys135Gly) rs1057519975
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr) rs587781991
NM_000546.6(TP53):c.404G>T (p.Cys135Phe) rs587781991
NM_000546.6(TP53):c.405C>G (p.Cys135Trp) rs1057519976
NM_000546.6(TP53):c.421T>A (p.Cys141Ser) rs1057519978
NM_000546.6(TP53):c.421T>C (p.Cys141Arg) rs1057519978
NM_000546.6(TP53):c.421T>G (p.Cys141Gly) rs1057519978
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_000546.6(TP53):c.422G>T (p.Cys141Phe) rs587781288
NM_000546.6(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.6(TP53):c.451C>G (p.Pro151Ala) rs28934874
NM_000546.6(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.6(TP53):c.452C>A (p.Pro151His) rs1057520000
NM_000546.6(TP53):c.452C>G (p.Pro151Arg) rs1057520000
NM_000546.6(TP53):c.475_481dup (p.Ala161fs) rs863223301
NM_000546.6(TP53):c.487T>A (p.Tyr163Asn) rs786203436
NM_000546.6(TP53):c.487T>C (p.Tyr163His) rs786203436
NM_000546.6(TP53):c.487T>G (p.Tyr163Asp) rs786203436
NM_000546.6(TP53):c.517G>A (p.Val173Met) rs876660754
NM_000546.6(TP53):c.517G>T (p.Val173Leu) rs876660754
NM_000546.6(TP53):c.518T>A (p.Val173Glu) rs1057519747
NM_000546.6(TP53):c.518T>C (p.Val173Ala) rs1057519747
NM_000546.6(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_000546.6(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_000546.6(TP53):c.526T>A (p.Cys176Ser) rs967461896
NM_000546.6(TP53):c.526T>C (p.Cys176Arg) rs967461896
NM_000546.6(TP53):c.526T>G (p.Cys176Gly) rs967461896
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.6(TP53):c.527G>T (p.Cys176Phe) rs786202962
NM_000546.6(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.6(TP53):c.535C>A (p.His179Asn) rs587780070
NM_000546.6(TP53):c.535C>G (p.His179Asp) rs587780070
NM_000546.6(TP53):c.536A>C (p.His179Pro) rs1057519991
NM_000546.6(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_000546.6(TP53):c.537T>G (p.His179Gln) rs876660821
NM_000546.6(TP53):c.559+1G>A rs1131691042
NM_000546.6(TP53):c.577C>A (p.His193Asn) rs876658468
NM_000546.6(TP53):c.577C>G (p.His193Asp) rs876658468
NM_000546.6(TP53):c.577C>T (p.His193Tyr) rs876658468
NM_000546.6(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.6(TP53):c.578A>T (p.His193Leu) rs786201838
NM_000546.6(TP53):c.580C>T (p.Leu194Phe) rs587780071
NM_000546.6(TP53):c.581T>A (p.Leu194His) rs1057519998
NM_000546.6(TP53):c.581T>C (p.Leu194Pro) rs1057519998
NM_000546.6(TP53):c.581T>G (p.Leu194Arg) rs1057519998
NM_000546.6(TP53):c.583A>T (p.Ile195Phe) rs942158624
NM_000546.6(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.6(TP53):c.584T>G (p.Ile195Ser) rs760043106
NM_000546.6(TP53):c.585C>G (p.Ile195Met) rs1057519994
NM_000546.6(TP53):c.587G>C (p.Arg196Pro) rs483352697
NM_000546.6(TP53):c.613T>A (p.Tyr205Asn) rs1057520008
NM_000546.6(TP53):c.613T>C (p.Tyr205His) rs1057520008
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_000546.6(TP53):c.614A>C (p.Tyr205Ser) rs1057520007
NM_000546.6(TP53):c.614A>G (p.Tyr205Cys) rs1057520007
NM_000546.6(TP53):c.614A>T (p.Tyr205Phe) rs1057520007
NM_000546.6(TP53):c.637C>G (p.Arg213Gly) rs397516436
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_000546.6(TP53):c.638G>T (p.Arg213Leu) rs587778720
NM_000546.6(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.6(TP53):c.646G>T (p.Val216Leu) rs730882025
NM_000546.6(TP53):c.647T>A (p.Val216Glu) rs1057520004
NM_000546.6(TP53):c.647T>G (p.Val216Gly) rs1057520004
NM_000546.6(TP53):c.658T>A (p.Tyr220Asn) rs530941076
NM_000546.6(TP53):c.658T>C (p.Tyr220His) rs530941076
NM_000546.6(TP53):c.658T>G (p.Tyr220Asp) rs530941076
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) rs121912666
NM_000546.6(TP53):c.677G>C (p.Gly226Ala) rs970212462
NM_000546.6(TP53):c.706T>A (p.Tyr236Asn) rs587782289
NM_000546.6(TP53):c.706T>G (p.Tyr236Asp) rs587782289
NM_000546.6(TP53):c.707A>G (p.Tyr236Cys) rs730882026
NM_000546.6(TP53):c.709A>G (p.Met237Val) rs730882004
NM_000546.6(TP53):c.710T>A (p.Met237Lys) rs765848205
NM_000546.6(TP53):c.712T>C (p.Cys238Arg) rs1057519981
NM_000546.6(TP53):c.712T>G (p.Cys238Gly) rs1057519981
NM_000546.6(TP53):c.713G>C (p.Cys238Ser) rs730882005
NM_000546.6(TP53):c.713G>T (p.Cys238Phe) rs730882005
NM_000546.6(TP53):c.721T>C (p.Ser241Pro) rs1057520002
NM_000546.6(TP53):c.721T>G (p.Ser241Ala) rs1057520002
NM_000546.6(TP53):c.722C>A (p.Ser241Tyr) rs28934573
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.72dup (p.Leu25fs) rs2151047224
NM_000546.6(TP53):c.730G>A (p.Gly244Ser) rs1057519989
NM_000546.6(TP53):c.730G>C (p.Gly244Arg) rs1057519989
NM_000546.6(TP53):c.730G>T (p.Gly244Cys) rs1057519989
NM_000546.6(TP53):c.731G>A (p.Gly244Asp) rs985033810
NM_000546.6(TP53):c.731G>T (p.Gly244Val) rs985033810
NM_000546.6(TP53):c.733G>C (p.Gly245Arg) rs28934575
NM_000546.6(TP53):c.733G>T (p.Gly245Cys) rs28934575
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.6(TP53):c.734G>C (p.Gly245Ala) rs121912656
NM_000546.6(TP53):c.734G>T (p.Gly245Val) rs121912656
NM_000546.6(TP53):c.742C>G (p.Arg248Gly) rs121912651
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.743G>C (p.Arg248Pro) rs11540652
NM_000546.6(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.6(TP53):c.745A>G (p.Arg249Gly) rs587782082
NM_000546.6(TP53):c.745A>T (p.Arg249Trp) rs587782082
NM_000546.6(TP53):c.746G>A (p.Arg249Lys) rs587782329
NM_000546.6(TP53):c.746G>C (p.Arg249Thr) rs587782329
NM_000546.6(TP53):c.746G>T (p.Arg249Met) rs587782329
NM_000546.6(TP53):c.763A>T (p.Ile255Phe) rs1057519995
NM_000546.6(TP53):c.764T>A (p.Ile255Asn) rs876659675
NM_000546.6(TP53):c.764T>C (p.Ile255Thr) rs876659675
NM_000546.6(TP53):c.764T>G (p.Ile255Ser) rs876659675
NM_000546.6(TP53):c.796G>C (p.Gly266Arg) rs1057519990
NM_000546.6(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_000546.6(TP53):c.797G>T (p.Gly266Val) rs193920774
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.808T>A (p.Phe270Ile) rs1057519988
NM_000546.6(TP53):c.808T>G (p.Phe270Val) rs1057519988
NM_000546.6(TP53):c.809T>C (p.Phe270Ser) rs1057519986
NM_000546.6(TP53):c.809T>G (p.Phe270Cys) rs1057519986
NM_000546.6(TP53):c.810T>G (p.Phe270Leu) rs1057519987
NM_000546.6(TP53):c.814G>A (p.Val272Met) rs121912657
NM_000546.6(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_000546.6(TP53):c.815T>A (p.Val272Glu) rs876660333
NM_000546.6(TP53):c.815T>G (p.Val272Gly) rs876660333
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) rs121913343
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>C (p.Arg273Pro) rs28934576
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.6(TP53):c.820G>C (p.Val274Leu) rs1057520005
NM_000546.6(TP53):c.820G>T (p.Val274Phe) rs1057520005
NM_000546.6(TP53):c.821T>A (p.Val274Asp) rs1057520006
NM_000546.6(TP53):c.821T>C (p.Val274Ala) rs1057520006
NM_000546.6(TP53):c.821T>G (p.Val274Gly) rs1057520006
NM_000546.6(TP53):c.823T>C (p.Cys275Arg) rs1057519983
NM_000546.6(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_000546.6(TP53):c.824G>T (p.Cys275Phe) rs863224451
NM_000546.6(TP53):c.832C>A (p.Pro278Thr) rs17849781
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_000546.6(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_000546.6(TP53):c.833C>A (p.Pro278His) rs876659802
NM_000546.6(TP53):c.833C>G (p.Pro278Arg) rs876659802
NM_000546.6(TP53):c.833C>T (p.Pro278Leu) rs876659802
NM_000546.6(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_000546.6(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) rs121912660
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) rs28934574
NM_000546.6(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.6(TP53):c.854A>T (p.Glu285Val) rs121912667
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_000546.6(TP53):c.856G>C (p.Glu286Gln) rs786201059
NM_000546.6(TP53):c.857A>C (p.Glu286Ala) rs1057519985
NM_000546.6(TP53):c.857A>G (p.Glu286Gly) rs1057519985
NM_000546.6(TP53):c.857A>T (p.Glu286Val) rs1057519985
NM_000546.6(TP53):c.96+1G>T rs1131691003
NM_000551.4(VHL):c.194C>T (p.Ser65Leu) rs5030826
NM_000551.4(VHL):c.530_536del (p.Arg177fs) rs1575932266
NM_001042492.3(NF1):c.1721+3A>G rs1057518904
NM_001042492.3(NF1):c.1888G>A (p.Val630Ile) rs751795238
NM_001042492.3(NF1):c.2351_2352delinsC (p.Trp784fs) rs1567848147
NM_001042492.3(NF1):c.4577+1G>A rs1279529138
NM_001111067.4(ACVR1):c.772A>G (p.Arg258Gly) rs863224846
NM_001111067.4(ACVR1):c.773G>T (p.Arg258Met) rs1057519875
NM_001111067.4(ACVR1):c.983G>A (p.Gly328Glu) rs387906589
NM_001111067.4(ACVR1):c.983G>T (p.Gly328Val) rs387906589
NM_001146079.2(CLDN14):c.116_118del (p.Asn39del)
NM_001146079.2(CLDN14):c.337G>C (p.Ala113Pro) rs138631461
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly) rs867384286
NM_001349798.2(FBXW7):c.1393C>T (p.Arg465Cys) rs867384286
NM_001349798.2(FBXW7):c.1394G>A (p.Arg465His) rs1057519895
NM_001349798.2(FBXW7):c.1394G>C (p.Arg465Pro) rs1057519895
NM_001349798.2(FBXW7):c.1394G>T (p.Arg465Leu) rs1057519895
NM_001356.5(DDX3X):c.1033G>C (p.Val345Leu) rs1555953796
NM_001356.5(DDX3X):c.1588G>T (p.Gly530Cys) rs1555954272
NM_001356.5(DDX3X):c.1592G>A (p.Arg531His) rs1555954275
NM_001370259.2(MEN1):c.1212C>G (p.Leu404=) rs577268289
NM_001370259.2(MEN1):c.1831T>A (p.Ter611Arg) rs1565635212
NM_001370259.2(MEN1):c.913-79T>A
NM_001374353.1(GLI2):c.3784C>T (p.His1262Tyr) rs794727100
NM_001374828.1(ARID1B):c.3714+1G>A rs1554231278
NM_001375883.1(GPR161):c.1231T>C (p.Tyr411His)
NM_001375883.1(GPR161):c.1235C>T (p.Thr412Met)
NM_001375883.1(GPR161):c.1445A>C (p.Glu482Ala)
NM_001375883.1(GPR161):c.1502del (p.Gly501fs) rs766670512
NM_001375883.1(GPR161):c.487_488del (p.Leu163fs) rs147891461
NM_001375883.1(GPR161):c.505G>A (p.Val169Met)
NM_001375883.1(GPR161):c.682G>T (p.Val228Phe)
NM_001375883.1(GPR161):c.713G>C (p.Gly238Ala)
NM_001429.4(EP300):c.4195G>A (p.Asp1399Asn) rs1057519889
NM_001429.4(EP300):c.4195G>T (p.Asp1399Tyr) rs1057519889
NM_001455.4(FOXO3):c.583A>T (p.Lys195Ter) rs1554209779
NM_001455.4(FOXO3):c.699G>A (p.Trp233Ter) rs1554218944
NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg) rs121913399
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) rs28931589
NM_001904.4(CTNNB1):c.101G>C (p.Gly34Ala) rs28931589
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) rs28931589
NM_001904.4(CTNNB1):c.109T>C (p.Ser37Pro) rs121913228
NM_001904.4(CTNNB1):c.109T>G (p.Ser37Ala) rs121913228
NM_001904.4(CTNNB1):c.110C>A (p.Ser37Tyr) rs121913403
NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys) rs121913403
NM_001904.4(CTNNB1):c.110C>T (p.Ser37Phe) rs121913403
NM_001904.4(CTNNB1):c.133T>G (p.Ser45Ala) rs121913407
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter) rs1553631860
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_001904.4(CTNNB1):c.94G>A (p.Asp32Asn) rs28931588
NM_001904.4(CTNNB1):c.94G>C (p.Asp32His) rs28931588
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr) rs28931588
NM_001904.4(CTNNB1):c.95A>C (p.Asp32Ala) rs121913396
NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly) rs121913396
NM_001904.4(CTNNB1):c.95A>T (p.Asp32Val) rs121913396
NM_001904.4(CTNNB1):c.97T>A (p.Ser33Thr) rs1057519886
NM_001904.4(CTNNB1):c.97T>C (p.Ser33Pro) rs1057519886
NM_001904.4(CTNNB1):c.97T>G (p.Ser33Ala) rs1057519886
NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr) rs121913400
NM_001904.4(CTNNB1):c.98C>G (p.Ser33Cys) rs121913400
NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe) rs121913400
NM_002070.4(GNAI2):c.535C>G (p.Arg179Gly) rs137853226
NM_002107.7(H3-3A):c.100G>C (p.Gly34Arg) rs1057519902
NM_002107.7(H3-3A):c.83A>T (p.Lys28Met) rs1057519903
NM_002168.4(IDH2):c.514A>G (p.Arg172Gly) rs1057519906
NM_002168.4(IDH2):c.514A>T (p.Arg172Trp) rs1057519906
NM_002168.4(IDH2):c.515G>A (p.Arg172Lys) rs121913503
NM_002168.4(IDH2):c.515G>T (p.Arg172Met) rs121913503
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) rs11554290
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu) rs11554290
NM_002524.5(NRAS):c.183A>T (p.Gln61His) rs121913255
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002524.5(NRAS):c.38G>T (p.Gly13Val) rs121434596
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_002834.5(PTPN11):c.215C>A (p.Ala72Asp) rs121918454
NM_002834.5(PTPN11):c.215C>T (p.Ala72Val) rs121918454
NM_003070.5(SMARCA2):c.2564G>T (p.Arg855Leu) rs1471482709
NM_003072.5(SMARCA4):c.2729C>T (p.Thr910Met) rs1238758086
NM_003482.4(KMT2D):c.15689G>A (p.Cys5230Tyr) rs2137715091
NM_003533.3(H3C11):c.82A>G (p.Lys28Glu) rs1057519905
NM_003533.3(H3C11):c.83A>T (p.Lys28Met) rs1057519904
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.1220C>A (p.Thr407Asn)
NM_003640.5(ELP1):c.1352A>G (p.Tyr451Cys) rs1829196320
NM_003640.5(ELP1):c.138dup (p.Val47fs) rs1564110292
NM_003640.5(ELP1):c.1436CTC[1] (p.Pro480del) rs746116617
NM_003640.5(ELP1):c.1456T>C (p.Tyr486His)
NM_003640.5(ELP1):c.1461-1G>T rs539544212
NM_003640.5(ELP1):c.14A>G (p.Lys5Arg)
NM_003640.5(ELP1):c.1587C>A (p.His529Gln)
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.2129A>G (p.Gln710Arg)
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.2825G>A (p.Arg942Gln) rs149845612
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.312T>C (p.Cys104=) rs1291760879
NM_003640.5(ELP1):c.3382_3385del (p.Thr1128fs) rs769748960
NM_003640.5(ELP1):c.3433A>G (p.Lys1145Glu)
NM_003640.5(ELP1):c.3461A>G (p.Asp1154Gly) rs202165319
NM_003640.5(ELP1):c.3572+5G>A rs773132143
NM_003640.5(ELP1):c.3769A>G (p.Lys1257Glu)
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.3840G>C (p.Gln1280His)
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.641del (p.Pro214fs) rs759412460
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_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer) rs56126236
NM_003977.2(AIP):c.(?_1)_(*_?)del
NM_003977.2(AIP):c.-1212_279+578del
NM_003977.3(AIP):c.74_81delTCCCGGACins7
NM_003977.3(AIP):c.[-125-145_-125-144delCGinsAA];[-125-95G>A]
NM_003977.3(AIP):c.[878_879delAGinsGT];[880_891delCTGGACCCAGCC]
NM_003977.4(AIP):c.-12C>G rs551077555
NM_003977.4(AIP):c.-2G>C rs377710724
NM_003977.4(AIP):c.-85C>T rs1565180279
NM_003977.4(AIP):c.100-1025_279+357del
NM_003977.4(AIP):c.102C>G (p.Ala34=) rs886048584
NM_003977.4(AIP):c.136G>A (p.Glu46Lys) rs772580337
NM_003977.4(AIP):c.140_163del (p.Gly47_Arg54del) rs267606537
NM_003977.4(AIP):c.151G>A (p.Asp51Asn) rs1591042638
NM_003977.4(AIP):c.164C>T (p.Ala55Val) rs1865805899
NM_003977.4(AIP):c.166C>A (p.Arg56Ser) rs267606538
NM_003977.4(AIP):c.16G>A (p.Ala6Thr)
NM_003977.4(AIP):c.241C>T (p.Arg81Ter) rs267606541
NM_003977.4(AIP):c.245_249del (p.Glu82fs) rs267606542
NM_003977.4(AIP):c.249G>A (p.Gly83=) rs104895072
NM_003977.4(AIP):c.249G>T (p.Gly83=) rs104895072
NM_003977.4(AIP):c.250G>A (p.Glu84Lys) rs267606543
NM_003977.4(AIP):c.261G>C (p.Gln87His) rs767982777
NM_003977.4(AIP):c.279G>A (p.Lys93=)
NM_003977.4(AIP):c.280-1G>A rs267606544
NM_003977.4(AIP):c.286_287del (p.Val96fs) rs267606545
NM_003977.4(AIP):c.2T>C (p.Met1Thr) rs267606546
NM_003977.4(AIP):c.301_423del (p.Val101_Leu141del)
NM_003977.4(AIP):c.308A>G (p.Lys103Arg) rs267606548
NM_003977.4(AIP):c.350del (p.Gly117fs) rs267606549
NM_003977.4(AIP):c.379A>G (p.Met127Val) rs1591044815
NM_003977.4(AIP):c.3G>A (p.Met1Ile) rs886037871
NM_003977.4(AIP):c.3_4insC (p.Ala2fs) rs267606547
NM_003977.4(AIP):c.404del (p.His135fs) rs267606551
NM_003977.4(AIP):c.424C>T (p.Gln142Ter) rs267606552
NM_003977.4(AIP):c.429G>A (p.Gln143=) rs267606553
NM_003977.4(AIP):c.468+16G>T rs267607273
NM_003977.4(AIP):c.468+1G>A rs267606554
NM_003977.4(AIP):c.469-1G>A rs267606555
NM_003977.4(AIP):c.469-2A>G rs267606556
NM_003977.4(AIP):c.474G>T (p.Glu158Asp) rs1245383191
NM_003977.4(AIP):c.485C>T (p.Thr162Met) rs764344774
NM_003977.4(AIP):c.490C>T (p.Gln164Ter) rs104895073
NM_003977.4(AIP):c.500del (p.Pro167fs) rs267606557
NM_003977.4(AIP):c.504_510del (p.Pro167_Trp168insTer)
NM_003977.4(AIP):c.521_525del (p.Glu174fs) rs267606558
NM_003977.4(AIP):c.523A>C (p.Lys175Gln)
NM_003977.4(AIP):c.543del (p.Ile182fs) rs267606559
NM_003977.4(AIP):c.550C>T (p.Gln184Ter) rs267606560
NM_003977.4(AIP):c.601A>T (p.Lys201Ter) rs267606563
NM_003977.4(AIP):c.619G>C (p.Ala207Pro)
NM_003977.4(AIP):c.646G>T (p.Glu216Ter) rs267606565
NM_003977.4(AIP):c.649C>G (p.Gln217Glu)
NM_003977.4(AIP):c.649C>T (p.Gln217Ter) rs267606566
NM_003977.4(AIP):c.64C>T (p.Arg22Ter) rs121908357
NM_003977.4(AIP):c.660C>T (p.Ser220=) rs776495655
NM_003977.4(AIP):c.662C>T (p.Pro221Leu) rs1426023503
NM_003977.4(AIP):c.662dup (p.Pro221_Glu222insTer) rs104895075
NM_003977.4(AIP):c.66_71del (p.Gly23_Glu24del) rs267606567
NM_003977.4(AIP):c.70G>T (p.Glu24Ter) rs267606568
NM_003977.4(AIP):c.713G>A (p.Cys238Tyr) rs267606569
NM_003977.4(AIP):c.714C>T (p.Cys238=) rs267606570
NM_003977.4(AIP):c.715C>T (p.Gln239Ter) rs267606571
NM_003977.4(AIP):c.721A>T (p.Lys241Ter) rs267606573
NM_003977.4(AIP):c.739TAC[1] (p.Tyr248del) rs267606574
NM_003977.4(AIP):c.769A>G (p.Ile257Val) rs267606575
NM_003977.4(AIP):c.787+10G>A rs776322323
NM_003977.4(AIP):c.803A>G (p.Tyr268Cys) rs267606577
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter) rs121908356
NM_003977.4(AIP):c.805_825dup (p.Phe269_His275dup) rs267606578
NM_003977.4(AIP):c.807C>G (p.Phe269Leu)
NM_003977.4(AIP):c.811C>T (p.Arg271Trp) rs267606579
NM_003977.4(AIP):c.824dup (p.His275fs) rs267606580
NM_003977.4(AIP):c.829G>C (p.Ala277Pro) rs267606581
NM_003977.4(AIP):c.844dup (p.Gln282fs)
NM_003977.4(AIP):c.854_857del (p.Gln285fs) rs267606582
NM_003977.4(AIP):c.879G>T (p.Glu293Asp)
NM_003977.4(AIP):c.887C>A (p.Pro296Gln)
NM_003977.4(AIP):c.919dup (p.Arg307fs) rs267606589
NM_003977.4(AIP):c.949G>T (p.Asp317Tyr) rs145025838
NM_003977.4(AIP):c.950A>G (p.Asp317Gly)
NM_003977.4(AIP):c.987C>T (p.Ser329=) rs267606587
NM_004304.5(ALK):c.1517T>C (p.Leu506Pro) rs762569153
NM_004304.5(ALK):c.164C>A (p.Ala55Glu) rs1217013970
NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala) rs113994088
NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro) rs113994089
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln) rs113994087
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) rs397516896
NM_004333.6(BRAF):c.1780G>C (p.Asp594His) rs397516896
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) rs121913338
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004380.3(CREBBP):c.4336C>G (p.Arg1446Gly) rs398124146
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys) rs398124146
NM_004380.3(CREBBP):c.4337G>A (p.Arg1446His) rs1057519884
NM_004380.3(CREBBP):c.4337G>T (p.Arg1446Leu) rs1057519884
NM_004444.5(EPHB4):c.1295_1296del (p.Glu432fs) rs2116449991
NM_004444.5(EPHB4):c.1526C>G (p.Ala509Gly) rs146937374
NM_004716.4(PCSK7):c.1634A>C (p.Lys545Thr) rs771986131
NM_005154.3(USP8):c.[2138T>G;2150A>G]
NM_005154.5(USP8):c.2152T>C (p.Ser718Pro) rs672601307
NM_005154.5(USP8):c.2152TCC[1] (p.Ser719del) rs672601306
NM_005154.5(USP8):c.2153C>G (p.Ser718Cys) rs672601308
NM_005154.5(USP8):c.2159C>G (p.Pro720Arg) rs672601311
NM_005228.5(EGFR):c.1793G>C (p.Gly598Ala) rs139236063
NM_005228.5(EGFR):c.1793G>T (p.Gly598Val) rs139236063
NM_005228.5(EGFR):c.322A>G (p.Arg108Gly) rs1057519888
NM_005228.5(EGFR):c.323G>A (p.Arg108Lys) rs1057519828
NM_005228.5(EGFR):c.787A>C (p.Thr263Pro) rs1057519829
NM_005228.5(EGFR):c.865G>A (p.Ala289Thr) rs769696078
NM_005228.5(EGFR):c.865_866delinsAA (p.Ala289Asn) rs1057519887
NM_005228.5(EGFR):c.865_866delinsAT (p.Ala289Ile) rs1057519887
NM_005228.5(EGFR):c.866C>A (p.Ala289Asp) rs149840192
NM_005228.5(EGFR):c.866C>T (p.Ala289Val) rs149840192
NM_005378.6(MYCN):c.131C>T (p.Pro44Leu) rs1057519919
NM_005631.5(SMO):c.1417G>C (p.Asp473His) rs17710891
NM_005896.4(IDH1):c.394C>A (p.Arg132Ser) rs121913499
NM_005896.4(IDH1):c.394C>G (p.Arg132Gly) rs121913499
NM_005896.4(IDH1):c.395G>T (p.Arg132Leu) rs121913500
NM_006015.6(ARID1A):c.2732G>T (p.Arg911Met) rs1553152166
NM_006087.4(TUBB4A):c.571C>T (p.Gln191Ter) rs1376427129
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys) rs1057519925
NM_006218.4(PIK3CA):c.1357G>C (p.Glu453Gln) rs1057519925
NM_006218.4(PIK3CA):c.1359A>T (p.Glu453Asp) rs1057519926
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1624G>C (p.Glu542Gln) rs121913273
NM_006218.4(PIK3CA):c.1625A>C (p.Glu542Ala) rs1057519927
NM_006218.4(PIK3CA):c.1625A>G (p.Glu542Gly) rs1057519927
NM_006218.4(PIK3CA):c.1625A>T (p.Glu542Val) rs1057519927
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1633G>C (p.Glu545Gln) rs104886003
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) rs121913274
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly) rs121913274
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp) rs121913275
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) rs121913286
NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu) rs121913286
NM_006218.4(PIK3CA):c.1637A>C (p.Gln546Pro) rs397517201
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) rs397517201
NM_006218.4(PIK3CA):c.1637A>T (p.Gln546Leu) rs397517201
NM_006218.4(PIK3CA):c.1638G>T (p.Gln546His) rs1057519940
NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys) rs867262025
NM_006218.4(PIK3CA):c.2177A>C (p.Glu726Ala) rs1057519928
NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys) rs1057519929
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln) rs121913287
NM_006218.4(PIK3CA):c.3127A>G (p.Met1043Val) rs1057519936
NM_006218.4(PIK3CA):c.3127A>T (p.Met1043Leu) rs1057519936
NM_006218.4(PIK3CA):c.3128T>C (p.Met1043Thr) rs1057519937
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile) rs121913283
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_006218.4(PIK3CA):c.3141T>G (p.His1047Gln) rs1057519932
NM_006218.4(PIK3CA):c.331A>G (p.Lys111Glu) rs1057519933
NM_006218.4(PIK3CA):c.332A>G (p.Lys111Arg) rs1057519935
NM_006218.4(PIK3CA):c.333G>C (p.Lys111Asn) rs1057519934
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) rs587777790
NM_006565.4(CTCF):c.610dup (p.Thr204fs) rs886041997
NM_006766.5(KAT6A):c.1433C>T (p.Thr478Ile) rs1554688023
NM_006842.3(SF3B2):c.2099A>G (p.Glu700Gly) rs1057519960
NM_007363.5(NONO):c.731dup (p.Asn244fs) rs1555950011
NM_016169.3(SUFU):c.-189C>T rs1589969363
NM_016169.3(SUFU):c.-202C>T rs1222242003
NM_016169.4(SUFU):c.*1104C>T rs886046657
NM_016169.4(SUFU):c.*131C>G rs886046654
NM_016169.4(SUFU):c.*1389C>T rs886046658
NM_016169.4(SUFU):c.*138C>T rs2063826618
NM_016169.4(SUFU):c.*1690A>G rs955282121
NM_016169.4(SUFU):c.*1720C>G rs536068954
NM_016169.4(SUFU):c.*1785C>T rs1047091410
NM_016169.4(SUFU):c.*1889C>T rs139020703
NM_016169.4(SUFU):c.*2150G>A rs561461171
NM_016169.4(SUFU):c.*2479C>T rs2063847339
NM_016169.4(SUFU):c.*2553T>C rs886046662
NM_016169.4(SUFU):c.*2657T>C rs2063848688
NM_016169.4(SUFU):c.*2757G>A rs758662176
NM_016169.4(SUFU):c.*3110C>T rs141940845
NM_016169.4(SUFU):c.*3239C>G rs538132960
NM_016169.4(SUFU):c.*3239_*3241del rs767259911
NM_016169.4(SUFU):c.*352C>G rs139725961
NM_016169.4(SUFU):c.*742G>A rs142145337
NM_016169.4(SUFU):c.-103C>A rs886046653
NM_016169.4(SUFU):c.-163A>G rs886046652
NM_016169.4(SUFU):c.-181A>G rs867202826
NM_016169.4(SUFU):c.-81C>A rs546107381
NM_016169.4(SUFU):c.-81C>T rs546107381
NM_016169.4(SUFU):c.1001G>C (p.Gly334Ala)
NM_016169.4(SUFU):c.1002C>T (p.Gly334=)
NM_016169.4(SUFU):c.1004T>C (p.Leu335Pro) rs2063496437
NM_016169.4(SUFU):c.1009C>T (p.His337Tyr)
NM_016169.4(SUFU):c.1009del (p.His337fs) rs869300423
NM_016169.4(SUFU):c.1012G>A (p.Asp338Asn) rs145082320
NM_016169.4(SUFU):c.1012G>C (p.Asp338His)
NM_016169.4(SUFU):c.1012G>T (p.Asp338Tyr) rs145082320
NM_016169.4(SUFU):c.1016G>C (p.Arg339Pro) rs369910221
NM_016169.4(SUFU):c.1017G>A (p.Arg339=) rs2063496731
NM_016169.4(SUFU):c.1018G>A (p.Ala340Thr)
NM_016169.4(SUFU):c.1018del (p.Ala340fs) rs2135889203
NM_016169.4(SUFU):c.1021C>G (p.Pro341Ala) rs2063496822
NM_016169.4(SUFU):c.1022+10C>T
NM_016169.4(SUFU):c.1022+12A>C
NM_016169.4(SUFU):c.1022+15G>A
NM_016169.4(SUFU):c.1022+1G>A rs587776578
NM_016169.4(SUFU):c.1022+20del rs1265431746
NM_016169.4(SUFU):c.1022C>G (p.Pro341Arg)
NM_016169.4(SUFU):c.1022del (p.Pro341fs)
NM_016169.4(SUFU):c.1023-12C>T
NM_016169.4(SUFU):c.1023-14T>C
NM_016169.4(SUFU):c.1023-15G>A
NM_016169.4(SUFU):c.1023-18C>G
NM_016169.4(SUFU):c.1023-18C>T rs892399500
NM_016169.4(SUFU):c.1023-19T>C
NM_016169.4(SUFU):c.1023-2A>T rs1060501105
NM_016169.4(SUFU):c.1023-3C>T rs550262133
NM_016169.4(SUFU):c.1023-6T>C rs2063672832
NM_016169.4(SUFU):c.1023-8C>T rs1554854552
NM_016169.4(SUFU):c.1023-9G>C rs1590082088
NM_016169.4(SUFU):c.1023G>A (p.Pro341=) rs2135929726
NM_016169.4(SUFU):c.1025G>T (p.Ser342Ile)
NM_016169.4(SUFU):c.1026C>A (p.Ser342Arg)
NM_016169.4(SUFU):c.1028G>C (p.Arg343Pro)
NM_016169.4(SUFU):c.1028G>T (p.Arg343Leu) rs79299301
NM_016169.4(SUFU):c.1031A>G (p.Lys344Arg)
NM_016169.4(SUFU):c.1034A>G (p.Asp345Gly) rs1590082122
NM_016169.4(SUFU):c.1037G>T (p.Ser346Ile)
NM_016169.4(SUFU):c.103C>T (p.His35Tyr)
NM_016169.4(SUFU):c.1041G>C (p.Leu347=)
NM_016169.4(SUFU):c.1042G>A (p.Glu348Lys) rs1447671524
NM_016169.4(SUFU):c.1046G>C (p.Ser349Thr) rs1419645738
NM_016169.4(SUFU):c.1048G>A (p.Asp350Asn)
NM_016169.4(SUFU):c.104A>G (p.His35Arg) rs2062292023
NM_016169.4(SUFU):c.1055C>G (p.Ser352Cys)
NM_016169.4(SUFU):c.1056C>A (p.Ser352=) rs1590082153
NM_016169.4(SUFU):c.1056C>T (p.Ser352=) rs1590082153
NM_016169.4(SUFU):c.1057A>T (p.Thr353Ser) rs1043574191
NM_016169.4(SUFU):c.105C>T (p.His35=)
NM_016169.4(SUFU):c.1060G>A (p.Ala354Thr) rs1554854570
NM_016169.4(SUFU):c.1061C>G (p.Ala354Gly) rs1554854572
NM_016169.4(SUFU):c.1063A>G (p.Ile355Val) rs1564706425
NM_016169.4(SUFU):c.1063A>T (p.Ile355Phe) rs1564706425
NM_016169.4(SUFU):c.1065C>A (p.Ile355=)
NM_016169.4(SUFU):c.1068T>A (p.Ile356=)
NM_016169.4(SUFU):c.1068T>G (p.Ile356Met) rs2063673886
NM_016169.4(SUFU):c.1069C>T (p.Pro357Ser)
NM_016169.4(SUFU):c.106G>A (p.Ala36Thr)
NM_016169.4(SUFU):c.1070_1084del (p.Pro357_Ile361del)
NM_016169.4(SUFU):c.1071C>T (p.Pro357=) rs1590082185
NM_016169.4(SUFU):c.1073A>C (p.His358Pro)
NM_016169.4(SUFU):c.1077G>A (p.Glu359=) rs1590082194
NM_016169.4(SUFU):c.1077del (p.Glu359fs) rs2135930082
NM_016169.4(SUFU):c.1079T>G (p.Leu360Arg)
NM_016169.4(SUFU):c.1083T>G (p.Ile361Met) rs1590082200
NM_016169.4(SUFU):c.1085G>T (p.Arg362Leu) rs755390277
NM_016169.4(SUFU):c.1087A>G (p.Thr363Ala) rs2135930147
NM_016169.4(SUFU):c.1090C>A (p.Arg364=) rs1305395503
NM_016169.4(SUFU):c.1090C>T (p.Arg364Trp) rs1305395503
NM_016169.4(SUFU):c.1094A>C (p.Gln365Pro)
NM_016169.4(SUFU):c.1097T>C (p.Leu366Pro) rs2063674539
NM_016169.4(SUFU):c.1104C>G (p.Ser368Arg) rs746580970
NM_016169.4(SUFU):c.1105G>C (p.Val369Leu) rs149449923
NM_016169.4(SUFU):c.1106T>C (p.Val369Ala) rs1554854584
NM_016169.4(SUFU):c.111C>T (p.Ile37=)
NM_016169.4(SUFU):c.111del (p.Tyr38fs) rs863224925
NM_016169.4(SUFU):c.1120A>G (p.Asn374Asp) rs2063674917
NM_016169.4(SUFU):c.1121A>C (p.Asn374Thr) rs1265012285
NM_016169.4(SUFU):c.1122C>T (p.Asn374=) rs1590082264
NM_016169.4(SUFU):c.1123del (p.Gln375fs) rs2135930329
NM_016169.4(SUFU):c.1124A>G (p.Gln375Arg)
NM_016169.4(SUFU):c.1127A>T (p.Glu376Val)
NM_016169.4(SUFU):c.1132G>A (p.Gly378Arg) rs1256959985
NM_016169.4(SUFU):c.1133G>C (p.Gly378Ala)
NM_016169.4(SUFU):c.1134A>G (p.Gly378=)
NM_016169.4(SUFU):c.1135G>C (p.Ala379Pro)
NM_016169.4(SUFU):c.1139T>A (p.Leu380His) rs2063675268
NM_016169.4(SUFU):c.113A>G (p.Tyr38Cys) rs2062292284
NM_016169.4(SUFU):c.1140C>G (p.Leu380=)
NM_016169.4(SUFU):c.1141A>G (p.Ile381Val)
NM_016169.4(SUFU):c.1142T>C (p.Ile381Thr) rs2135930458
NM_016169.4(SUFU):c.1145C>G (p.Pro382Arg)
NM_016169.4(SUFU):c.1145C>T (p.Pro382Leu) rs1401882800
NM_016169.4(SUFU):c.1146T>C (p.Pro382=) rs1159204850
NM_016169.4(SUFU):c.1147C>T (p.Leu383Phe)
NM_016169.4(SUFU):c.1149C>T (p.Leu383=)
NM_016169.4(SUFU):c.1150T>C (p.Cys384Arg) rs375419295
NM_016169.4(SUFU):c.1152C>T (p.Cys384=) rs1590082342
NM_016169.4(SUFU):c.1155A>G (p.Leu385=)
NM_016169.4(SUFU):c.1157+11C>T
NM_016169.4(SUFU):c.1157+13del
NM_016169.4(SUFU):c.1157+14C>T rs2063675828
NM_016169.4(SUFU):c.1157+17T>G rs2135930605
NM_016169.4(SUFU):c.1157+1G>A
NM_016169.4(SUFU):c.1157+20CA[4]
NM_016169.4(SUFU):c.1157+7G>C rs371548374
NM_016169.4(SUFU):c.1157G>C (p.Arg386Thr)
NM_016169.4(SUFU):c.1158-10C>T rs904045520
NM_016169.4(SUFU):c.1158-10_1158-9insT rs2135934819
NM_016169.4(SUFU):c.1158-11C>T rs2135934809
NM_016169.4(SUFU):c.1158-13T>A
NM_016169.4(SUFU):c.1158-13T>G
NM_016169.4(SUFU):c.1158-15T>C rs998644443
NM_016169.4(SUFU):c.1158-18C>G rs2135934793
NM_016169.4(SUFU):c.1158-18_1158-15dup rs2063696440
NM_016169.4(SUFU):c.1158-3C>T rs936830108
NM_016169.4(SUFU):c.1158-4C>T rs768603330
NM_016169.4(SUFU):c.1158-8_1158-7insCTG rs2135934830
NM_016169.4(SUFU):c.1158-9C>T
NM_016169.4(SUFU):c.1158G>A (p.Arg386=) rs773979098
NM_016169.4(SUFU):c.1159G>A (p.Gly387Ser)
NM_016169.4(SUFU):c.1160G>A (p.Gly387Asp)
NM_016169.4(SUFU):c.1167C>G (p.Leu389=)
NM_016169.4(SUFU):c.1167C>T (p.Leu389=)
NM_016169.4(SUFU):c.116G>T (p.Gly39Val) rs756123785
NM_016169.4(SUFU):c.1171C>T (p.His391Tyr)
NM_016169.4(SUFU):c.1172A>G (p.His391Arg) rs2063696863
NM_016169.4(SUFU):c.1174G>C (p.Gly392Arg) rs2063696912
NM_016169.4(SUFU):c.1174_1175dup (p.Arg393fs) rs1564707343
NM_016169.4(SUFU):c.1178G>A (p.Arg393Gln)
NM_016169.4(SUFU):c.1179G>A (p.Arg393=)
NM_016169.4(SUFU):c.1180C>G (p.His394Asp)
NM_016169.4(SUFU):c.1183T>G (p.Phe395Val)
NM_016169.4(SUFU):c.1185T>C (p.Phe395=) rs760982248
NM_016169.4(SUFU):c.1191del (p.Thr396_Tyr397insTer)
NM_016169.4(SUFU):c.1196G>A (p.Ser399Asn) rs1421345157
NM_016169.4(SUFU):c.1196G>C (p.Ser399Thr) rs1421345157
NM_016169.4(SUFU):c.119A>G (p.Glu40Gly)
NM_016169.4(SUFU):c.11T>G (p.Leu4Arg)
NM_016169.4(SUFU):c.1202C>T (p.Thr401Ile) rs776868943
NM_016169.4(SUFU):c.1205G>A (p.Gly402Asp) rs2063697237
NM_016169.4(SUFU):c.120G>A (p.Glu40=)
NM_016169.4(SUFU):c.1210A>G (p.Met404Val) rs1312190379
NM_016169.4(SUFU):c.1211T>A (p.Met404Lys) rs2063697367
NM_016169.4(SUFU):c.1211T>C (p.Met404Thr)
NM_016169.4(SUFU):c.1214C>T (p.Ala405Val)
NM_016169.4(SUFU):c.1216A>G (p.Ile406Val) rs1060501116
NM_016169.4(SUFU):c.1220C>T (p.Thr407Met)
NM_016169.4(SUFU):c.1229C>G (p.Ser410Cys)
NM_016169.4(SUFU):c.1231A>G (p.Thr411Ala)
NM_016169.4(SUFU):c.1233G>A (p.Thr411=)
NM_016169.4(SUFU):c.1233G>C (p.Thr411=)
NM_016169.4(SUFU):c.1235G>A (p.Gly412Glu) rs1590084228
NM_016169.4(SUFU):c.1239G>A (p.Val413=)
NM_016169.4(SUFU):c.1244G>A (p.Gly415Asp) rs2135935261
NM_016169.4(SUFU):c.1246G>A (p.Ala416Thr) rs779490664
NM_016169.4(SUFU):c.1246G>T (p.Ala416Ser) rs779490664
NM_016169.4(SUFU):c.1246_1249dup (p.Phe417fs)
NM_016169.4(SUFU):c.1247C>A (p.Ala416Asp) rs2063698018
NM_016169.4(SUFU):c.1248C>T (p.Ala416=)
NM_016169.4(SUFU):c.124dup (p.Arg42fs) rs2062292476
NM_016169.4(SUFU):c.1252G>C (p.Ala418Pro) rs2063698088
NM_016169.4(SUFU):c.1252G>T (p.Ala418Ser)
NM_016169.4(SUFU):c.1254C>A (p.Ala418=) rs1554854775
NM_016169.4(SUFU):c.1254C>T (p.Ala418=) rs1554854775
NM_016169.4(SUFU):c.1263G>A (p.Glu421=)
NM_016169.4(SUFU):c.1263_1264delinsTT (p.Glu421_His422delinsAspTyr)
NM_016169.4(SUFU):c.1268C>G (p.Pro423Arg) rs1590084270
NM_016169.4(SUFU):c.1268C>T (p.Pro423Leu)
NM_016169.4(SUFU):c.1274C>T (p.Ala425Val) rs1427876079
NM_016169.4(SUFU):c.1276G>A (p.Ala426Thr) rs1189930416
NM_016169.4(SUFU):c.1277C>T (p.Ala426Val) rs772895878
NM_016169.4(SUFU):c.1284A>G (p.Gly428=) rs2135935488
NM_016169.4(SUFU):c.1287C>G (p.Pro429=) rs2135935515
NM_016169.4(SUFU):c.1291T>G (p.Leu431Val) rs141950577
NM_016169.4(SUFU):c.1293A>G (p.Leu431=) rs2135935555
NM_016169.4(SUFU):c.1295A>C (p.Gln432Pro)
NM_016169.4(SUFU):c.1296+10C>T
NM_016169.4(SUFU):c.1296+13_1296+91del
NM_016169.4(SUFU):c.1296+14T>G rs1489647547
NM_016169.4(SUFU):c.1296+18C>A
NM_016169.4(SUFU):c.1296+18dup
NM_016169.4(SUFU):c.1296+3G>A rs2135935586
NM_016169.4(SUFU):c.1296+4_1296+459del rs2063698594
NM_016169.4(SUFU):c.1296+5G>A
NM_016169.4(SUFU):c.1297-12G>A
NM_016169.4(SUFU):c.1297-15C>T
NM_016169.4(SUFU):c.1297-19C>G
NM_016169.4(SUFU):c.1297-5C>T rs1275187815
NM_016169.4(SUFU):c.1297-7T>C
NM_016169.4(SUFU):c.129C>G (p.Arg43=) rs1453485604
NM_016169.4(SUFU):c.129C>T (p.Arg43=) rs1453485604
NM_016169.4(SUFU):c.1302G>A (p.Leu434=) rs780117353
NM_016169.4(SUFU):c.1308C>G (p.Thr436=)
NM_016169.4(SUFU):c.130C>T (p.Leu44Phe)
NM_016169.4(SUFU):c.1312del (p.Glu438fs) rs2135954200
NM_016169.4(SUFU):c.1314G>C (p.Glu438Asp)
NM_016169.4(SUFU):c.1316T>C (p.Phe439Ser) rs778975698
NM_016169.4(SUFU):c.1318G>A (p.Val440Ile)
NM_016169.4(SUFU):c.1319T>C (p.Val440Ala) rs2135954241
NM_016169.4(SUFU):c.1322A>T (p.Glu441Val) rs2063793808
NM_016169.4(SUFU):c.1329G>T (p.Met443Ile) rs773805575
NM_016169.4(SUFU):c.1332G>C (p.Leu444Phe) rs2135954289
NM_016169.4(SUFU):c.1336G>A (p.Asp446Asn) rs2135954318
NM_016169.4(SUFU):c.1339T>G (p.Leu447Val) rs2135954327
NM_016169.4(SUFU):c.1342G>A (p.Glu448Lys) rs2135954335
NM_016169.4(SUFU):c.1347T>G (p.Asp449Glu) rs1564711403
NM_016169.4(SUFU):c.134A>T (p.Tyr45Phe) rs774611157
NM_016169.4(SUFU):c.1350G>C (p.Leu450Phe) rs2135954349
NM_016169.4(SUFU):c.1351A>G (p.Thr451Ala)
NM_016169.4(SUFU):c.1355C>A (p.Ser452Tyr) rs2135954353
NM_016169.4(SUFU):c.1360G>C (p.Glu454Gln)
NM_016169.4(SUFU):c.1365+13G>A
NM_016169.4(SUFU):c.1365+18_1365+19delinsCC
NM_016169.4(SUFU):c.1365+1G>A rs2063794106
NM_016169.4(SUFU):c.1365+6C>A rs2063794144
NM_016169.4(SUFU):c.1365+6C>T
NM_016169.4(SUFU):c.1365+7T>A
NM_016169.4(SUFU):c.1365+8T>C
NM_016169.4(SUFU):c.1366-13G>C
NM_016169.4(SUFU):c.1366-15T>A
NM_016169.4(SUFU):c.1366-17G>C
NM_016169.4(SUFU):c.1366-6C>T rs1564712471
NM_016169.4(SUFU):c.136C>A (p.Pro46Thr)
NM_016169.4(SUFU):c.136C>T (p.Pro46Ser)
NM_016169.4(SUFU):c.1370A>G (p.Lys457Arg) rs947720538
NM_016169.4(SUFU):c.1371A>G (p.Lys457=)
NM_016169.4(SUFU):c.1372C>A (p.Leu458Ile)
NM_016169.4(SUFU):c.1372C>T (p.Leu458Phe)
NM_016169.4(SUFU):c.1375C>T (p.Pro459Ser) rs2063824067
NM_016169.4(SUFU):c.137C>G (p.Pro46Arg)
NM_016169.4(SUFU):c.137C>T (p.Pro46Leu) rs2135598488
NM_016169.4(SUFU):c.1387A>G (p.Ser463Gly)
NM_016169.4(SUFU):c.138T>C (p.Pro46=)
NM_016169.4(SUFU):c.138_141del (p.Asp47fs)
NM_016169.4(SUFU):c.1398A>G (p.Glu466=) rs2135959452
NM_016169.4(SUFU):c.139G>A (p.Asp47Asn) rs2062292973
NM_016169.4(SUFU):c.1415C>T (p.Ser472Phe) rs1590094982
NM_016169.4(SUFU):c.1416C>T (p.Ser472=) rs1318853616
NM_016169.4(SUFU):c.1419C>T (p.Ile473=) rs1342217589
NM_016169.4(SUFU):c.1422G>T (p.Leu474=)
NM_016169.4(SUFU):c.1429G>T (p.Val477Leu)
NM_016169.4(SUFU):c.1434G>A (p.Val478=)
NM_016169.4(SUFU):c.1438G>A (p.Asp480Asn) rs1318484622
NM_016169.4(SUFU):c.143dup (p.Pro49fs) rs1589970134
NM_016169.4(SUFU):c.1442_1451del (p.Ser481fs) rs1324912821
NM_016169.4(SUFU):c.1444C>T (p.Pro482Ser)
NM_016169.4(SUFU):c.1445C>G (p.Pro482Arg) rs765358771
NM_016169.4(SUFU):c.1446G>T (p.Pro482=)
NM_016169.4(SUFU):c.1448T>C (p.Leu483Pro) rs1060501115
NM_016169.4(SUFU):c.144G>T (p.Gln48His)
NM_016169.4(SUFU):c.1450C>T (p.His484Tyr) rs2135959641
NM_016169.4(SUFU):c.1450_*18del (p.His484_Ter485del) rs2063824850
NM_016169.4(SUFU):c.1452C>T (p.His484=) rs2135959647
NM_016169.4(SUFU):c.1453T>G (p.Ter485Glu)
NM_016169.4(SUFU):c.145C>G (p.Pro49Ala)
NM_016169.4(SUFU):c.147G>A (p.Pro49=) rs1554840859
NM_016169.4(SUFU):c.14_33del (p.Arg5fs)
NM_016169.4(SUFU):c.151C>T (p.Pro51Ser) rs2062293449
NM_016169.4(SUFU):c.153G>A (p.Pro51=)
NM_016169.4(SUFU):c.154_155delinsAC (p.Leu52Thr) rs2135598653
NM_016169.4(SUFU):c.155T>A (p.Leu52His) rs2135598661
NM_016169.4(SUFU):c.156C>T (p.Leu52=) rs1589970169
NM_016169.4(SUFU):c.157C>T (p.Gln53Ter) rs2135598685
NM_016169.4(SUFU):c.158A>G (p.Gln53Arg) rs1589970174
NM_016169.4(SUFU):c.15G>A (p.Arg5=) rs2062288402
NM_016169.4(SUFU):c.160G>A (p.Val54Ile) rs2135598727
NM_016169.4(SUFU):c.16C>T (p.Pro6Ser) rs2062288467
NM_016169.4(SUFU):c.171C>G (p.Ile57Met) rs1283661186
NM_016169.4(SUFU):c.171C>T (p.Ile57=) rs1283661186
NM_016169.4(SUFU):c.171dup (p.Val58fs) rs1554840869
NM_016169.4(SUFU):c.172G>A (p.Val58Ile)
NM_016169.4(SUFU):c.172G>C (p.Val58Leu) rs766897671
NM_016169.4(SUFU):c.173T>A (p.Val58Asp) rs2135598841
NM_016169.4(SUFU):c.175A>T (p.Lys59Ter) rs1564654588
NM_016169.4(SUFU):c.179A>C (p.Tyr60Ser)
NM_016169.4(SUFU):c.17C>G (p.Pro6Arg) rs2135597134
NM_016169.4(SUFU):c.182+14C>G rs1256929705
NM_016169.4(SUFU):c.182+17G>T rs2135599022
NM_016169.4(SUFU):c.182+18G>C
NM_016169.4(SUFU):c.182+1G>A rs2135598885
NM_016169.4(SUFU):c.182+20G>A rs2135599029
NM_016169.4(SUFU):c.182+3A>C rs1589970228
NM_016169.4(SUFU):c.182+3A>G rs1589970228
NM_016169.4(SUFU):c.182+4T>C rs1268149623
NM_016169.4(SUFU):c.182+6C>T rs889720087
NM_016169.4(SUFU):c.182+7T>A rs759858682
NM_016169.4(SUFU):c.182+7T>C rs759858682
NM_016169.4(SUFU):c.182+9T>C rs756923648
NM_016169.4(SUFU):c.183-10T>C rs1060504148
NM_016169.4(SUFU):c.183-11G>T
NM_016169.4(SUFU):c.183-13T>C
NM_016169.4(SUFU):c.183-16G>A rs2135619783
NM_016169.4(SUFU):c.183-18G>C
NM_016169.4(SUFU):c.183-1G>A rs1554841447
NM_016169.4(SUFU):c.183-1G>T
NM_016169.4(SUFU):c.183-20C>T rs761472045
NM_016169.4(SUFU):c.183-2A>C rs2135619894
NM_016169.4(SUFU):c.183-4_247del
NM_016169.4(SUFU):c.183-4del rs1345403982
NM_016169.4(SUFU):c.189T>C (p.Gly63=) rs2135619936
NM_016169.4(SUFU):c.192C>T (p.Gly64=) rs2135619956
NM_016169.4(SUFU):c.19A>G (p.Ser7Gly) rs2062288510
NM_016169.4(SUFU):c.200C>G (p.Pro67Arg) rs1564656995
NM_016169.4(SUFU):c.201C>T (p.Pro67=)
NM_016169.4(SUFU):c.202T>C (p.Leu68=) rs1589975244
NM_016169.4(SUFU):c.202T>G (p.Leu68Val) rs1589975244
NM_016169.4(SUFU):c.207C>T (p.Asp69=) rs778708985
NM_016169.4(SUFU):c.209A>G (p.Tyr70Cys)
NM_016169.4(SUFU):c.215G>A (p.Ser72Asn) rs1589975269
NM_016169.4(SUFU):c.217A>T (p.Met73Leu) rs1183694060
NM_016169.4(SUFU):c.21C>A (p.Ser7Arg) rs2135597167
NM_016169.4(SUFU):c.21C>G (p.Ser7Arg)
NM_016169.4(SUFU):c.222C>G (p.Tyr74Ter)
NM_016169.4(SUFU):c.227A>C (p.Asn76Thr)
NM_016169.4(SUFU):c.229G>A (p.Val77Met)
NM_016169.4(SUFU):c.22G>T (p.Gly8Cys) rs769696737
NM_016169.4(SUFU):c.230T>C (p.Val77Ala)
NM_016169.4(SUFU):c.231G>T (p.Val77=)
NM_016169.4(SUFU):c.233G>A (p.Gly78Glu) rs2062368710
NM_016169.4(SUFU):c.236G>C (p.Ser79Thr) rs2135620312
NM_016169.4(SUFU):c.238C>A (p.Pro80Thr)
NM_016169.4(SUFU):c.240T>G (p.Pro80=) rs2135620342
NM_016169.4(SUFU):c.242C>A (p.Ser81Tyr)
NM_016169.4(SUFU):c.242C>G (p.Ser81Cys) rs2062368817
NM_016169.4(SUFU):c.245C>T (p.Ala82Val)
NM_016169.4(SUFU):c.247A>C (p.Asn83His) rs2135620366
NM_016169.4(SUFU):c.247A>G (p.Asn83Asp) rs2135620366
NM_016169.4(SUFU):c.253C>G (p.Pro85Ala) rs1187640052
NM_016169.4(SUFU):c.253C>T (p.Pro85Ser) rs1187640052
NM_016169.4(SUFU):c.254C>T (p.Pro85Leu)
NM_016169.4(SUFU):c.255C>G (p.Pro85=) rs113671745
NM_016169.4(SUFU):c.256G>T (p.Glu86Ter)
NM_016169.4(SUFU):c.258G>A (p.Glu86=) rs1183328233
NM_016169.4(SUFU):c.261C>T (p.His87=)
NM_016169.4(SUFU):c.270C>T (p.Tyr90=) rs2135620594
NM_016169.4(SUFU):c.271A>G (p.Ile91Val) rs759030707
NM_016169.4(SUFU):c.272T>A (p.Ile91Asn) rs781318691
NM_016169.4(SUFU):c.273C>G (p.Ile91Met) rs2062369595
NM_016169.4(SUFU):c.274A>G (p.Ser92Gly) rs2062369652
NM_016169.4(SUFU):c.276C>G (p.Ser92Arg) rs1060501106
NM_016169.4(SUFU):c.279C>A (p.Phe93Leu) rs770218907
NM_016169.4(SUFU):c.27C>A (p.Ala9=) rs1244167364
NM_016169.4(SUFU):c.280G>A (p.Gly94Ser)
NM_016169.4(SUFU):c.285G>A (p.Leu95=) rs1589975337
NM_016169.4(SUFU):c.285G>C (p.Leu95=) rs1589975337
NM_016169.4(SUFU):c.285G>T (p.Leu95=) rs1589975337
NM_016169.4(SUFU):c.287G>C (p.Ser96Thr) rs2135620752
NM_016169.4(SUFU):c.28C>G (p.Pro10Ala)
NM_016169.4(SUFU):c.28C>T (p.Pro10Ser) rs975936230
NM_016169.4(SUFU):c.295T>C (p.Tyr99His) rs2062370032
NM_016169.4(SUFU):c.305A>G (p.Asn102Ser) rs146181245
NM_016169.4(SUFU):c.306C>G (p.Asn102Lys)
NM_016169.4(SUFU):c.316G>C (p.Glu106Gln) rs1040654062
NM_016169.4(SUFU):c.317+11G>A
NM_016169.4(SUFU):c.317+12C>T
NM_016169.4(SUFU):c.317+15C>T
NM_016169.4(SUFU):c.317+18G>C rs765919055
NM_016169.4(SUFU):c.317+1G>A rs2135621012
NM_016169.4(SUFU):c.317+5G>T rs2062370553
NM_016169.4(SUFU):c.317+7A>G
NM_016169.4(SUFU):c.317+9A>C rs1333202541
NM_016169.4(SUFU):c.317+9A>G
NM_016169.4(SUFU):c.317A>G (p.Glu106Gly)
NM_016169.4(SUFU):c.318-10T>C rs2062894940
NM_016169.4(SUFU):c.318-11A>G
NM_016169.4(SUFU):c.318-11del
NM_016169.4(SUFU):c.318-17C>T
NM_016169.4(SUFU):c.318-19del
NM_016169.4(SUFU):c.318-1G>C rs2135742927
NM_016169.4(SUFU):c.318-22_318-19del
NM_016169.4(SUFU):c.318-3C>T
NM_016169.4(SUFU):c.318-9G>A
NM_016169.4(SUFU):c.318G>A (p.Glu106=) rs1188593672
NM_016169.4(SUFU):c.31G>A (p.Gly11Ser)
NM_016169.4(SUFU):c.320T>G (p.Phe107Cys)
NM_016169.4(SUFU):c.327A>G (p.Gly109=) rs2135743007
NM_016169.4(SUFU):c.32G>A (p.Gly11Asp) rs1227379293
NM_016169.4(SUFU):c.333T>G (p.Asp111Glu) rs2062895698
NM_016169.4(SUFU):c.334G>A (p.Gly112Arg)
NM_016169.4(SUFU):c.33C>T (p.Gly11=) rs12780566
NM_016169.4(SUFU):c.341G>A (p.Ser114Asn) rs781192849
NM_016169.4(SUFU):c.341del (p.Ser114fs) rs1060501108
NM_016169.4(SUFU):c.347T>G (p.Phe116Cys)
NM_016169.4(SUFU):c.34C>T (p.Pro12Ser)
NM_016169.4(SUFU):c.350G>C (p.Gly117Ala) rs1564676348
NM_016169.4(SUFU):c.352T>C (p.Phe118Leu) rs2062895967
NM_016169.4(SUFU):c.357G>A (p.Glu119=)
NM_016169.4(SUFU):c.358T>G (p.Leu120Val) rs1415947980
NM_016169.4(SUFU):c.363C>G (p.Thr121=)
NM_016169.4(SUFU):c.363C>T (p.Thr121=) rs910976342
NM_016169.4(SUFU):c.366T>G (p.Phe122Leu) rs1216193400
NM_016169.4(SUFU):c.369_370delinsAT (p.Arg123_Leu124=) rs2135743228
NM_016169.4(SUFU):c.36C>G (p.Pro12=) rs1564654365
NM_016169.4(SUFU):c.36C>T (p.Pro12=)
NM_016169.4(SUFU):c.375G>A (p.Lys125=) rs184867271
NM_016169.4(SUFU):c.375G>T (p.Lys125Asn)
NM_016169.4(SUFU):c.379G>A (p.Glu127Lys) rs1280071055
NM_016169.4(SUFU):c.37_53del (p.Thr13fs) rs2135597189
NM_016169.4(SUFU):c.37_53dup (p.Gly19fs) rs2135597189
NM_016169.4(SUFU):c.383C>A (p.Thr128Asn)
NM_016169.4(SUFU):c.385G>A (p.Gly129Arg)
NM_016169.4(SUFU):c.388G>C (p.Glu130Gln)
NM_016169.4(SUFU):c.397C>T (p.Pro133Ser) rs2135743325
NM_016169.4(SUFU):c.398C>T (p.Pro133Leu)
NM_016169.4(SUFU):c.399A>G (p.Pro133=)
NM_016169.4(SUFU):c.402A>G (p.Pro134=)
NM_016169.4(SUFU):c.406T>C (p.Trp136Arg)
NM_016169.4(SUFU):c.408G>A (p.Trp136Ter) rs2135743382
NM_016169.4(SUFU):c.409C>T (p.Pro137Ser) rs1564676427
NM_016169.4(SUFU):c.411C>A (p.Pro137=) rs946508687
NM_016169.4(SUFU):c.413C>T (p.Ala138Val)
NM_016169.4(SUFU):c.420A>T (p.Leu140Phe) rs1060501111
NM_016169.4(SUFU):c.425A>G (p.Gln142Arg) rs2135743469
NM_016169.4(SUFU):c.426G>A (p.Gln142=) rs2135743475
NM_016169.4(SUFU):c.429C>G (p.Gly143=)
NM_016169.4(SUFU):c.429C>T (p.Gly143=) rs2062896951
NM_016169.4(SUFU):c.42G>A (p.Ala14=) rs1179829804
NM_016169.4(SUFU):c.42_65del (p.10PGPTAPPA[1]) rs2062289607
NM_016169.4(SUFU):c.430T>G (p.Leu144Val) rs2135743501
NM_016169.4(SUFU):c.438A>T (p.Arg146=) rs775280499
NM_016169.4(SUFU):c.43C>G (p.Pro15Ala) rs761921681
NM_016169.4(SUFU):c.442G>A (p.Val148Met) rs763813479
NM_016169.4(SUFU):c.442G>T (p.Val148Leu) rs763813479
NM_016169.4(SUFU):c.447C>T (p.Phe149=) rs2062897233
NM_016169.4(SUFU):c.44C>T (p.Pro15Leu) rs28942088
NM_016169.4(SUFU):c.450G>C (p.Gln150His)
NM_016169.4(SUFU):c.454+10C>T rs2135743674
NM_016169.4(SUFU):c.454+13G>C
NM_016169.4(SUFU):c.454+13_454+14dup rs780518303
NM_016169.4(SUFU):c.454+15C>T
NM_016169.4(SUFU):c.454+18G>T
NM_016169.4(SUFU):c.454+1G>A rs1564676479
NM_016169.4(SUFU):c.454+20TGCTG[3]
NM_016169.4(SUFU):c.454+4_454+5del
NM_016169.4(SUFU):c.454+6A>T rs2062897274
NM_016169.4(SUFU):c.454+6_454+8del rs2135743623
NM_016169.4(SUFU):c.454+7G>T
NM_016169.4(SUFU):c.454+8G>A rs1172897703
NM_016169.4(SUFU):c.455-10T>A
NM_016169.4(SUFU):c.455-11C>G
NM_016169.4(SUFU):c.455-13A>G
NM_016169.4(SUFU):c.455-13A>T
NM_016169.4(SUFU):c.455-15G>A
NM_016169.4(SUFU):c.455-17T>G rs2135866499
NM_016169.4(SUFU):c.455-19C>A rs370818590
NM_016169.4(SUFU):c.455-19C>T
NM_016169.4(SUFU):c.455-20T>A
NM_016169.4(SUFU):c.455-5C>T rs2135866563
NM_016169.4(SUFU):c.455-6C>T rs2135866556
NM_016169.4(SUFU):c.455-9C>T
NM_016169.4(SUFU):c.45C>A (p.Pro15=)
NM_016169.4(SUFU):c.460A>G (p.Thr154Ala)
NM_016169.4(SUFU):c.460A>T (p.Thr154Ser)
NM_016169.4(SUFU):c.464T>G (p.Phe155Cys) rs2063414949
NM_016169.4(SUFU):c.466T>C (p.Cys156Arg) rs1554852266
NM_016169.4(SUFU):c.469A>G (p.Ser157Gly) rs2063415039
NM_016169.4(SUFU):c.469A>T (p.Ser157Cys)
NM_016169.4(SUFU):c.46C>A (p.Pro16Thr) rs978312925
NM_016169.4(SUFU):c.46C>G (p.Pro16Ala)
NM_016169.4(SUFU):c.479A>G (p.His160Arg)
NM_016169.4(SUFU):c.47C>T (p.Pro16Leu)
NM_016169.4(SUFU):c.48G>C (p.Pro16=)
NM_016169.4(SUFU):c.48G>T (p.Pro16=) rs1467238395
NM_016169.4(SUFU):c.490C>T (p.His164Tyr) rs2063415325
NM_016169.4(SUFU):c.492C>T (p.His164=)
NM_016169.4(SUFU):c.494G>C (p.Ser165Thr)
NM_016169.4(SUFU):c.509G>C (p.Ser170Thr)
NM_016169.4(SUFU):c.516A>C (p.Ser172=)
NM_016169.4(SUFU):c.518G>T (p.Arg173Ile) rs587778697
NM_016169.4(SUFU):c.521T>A (p.Ile174Asn) rs2063415661
NM_016169.4(SUFU):c.521T>C (p.Ile174Thr) rs2063415661
NM_016169.4(SUFU):c.52C>A (p.Pro18Thr)
NM_016169.4(SUFU):c.52_75del (p.10_17PGPTAPPA[1]) rs1426839991
NM_016169.4(SUFU):c.531G>C (p.Met177Ile)
NM_016169.4(SUFU):c.53C>T (p.Pro18Leu)
NM_016169.4(SUFU):c.53_59del (p.Pro18fs) rs2135597558
NM_016169.4(SUFU):c.53del (p.Pro18fs) rs2135597588
NM_016169.4(SUFU):c.541G>A (p.Glu181Lys)
NM_016169.4(SUFU):c.544G>A (p.Asp182Asn) rs2135867046
NM_016169.4(SUFU):c.546C>T (p.Asp182=) rs2135867056
NM_016169.4(SUFU):c.54T>C (p.Pro18=) rs1453186079
NM_016169.4(SUFU):c.550C>G (p.Gln184Glu) rs2063416132
NM_016169.4(SUFU):c.551A>C (p.Gln184Pro) rs2063416174
NM_016169.4(SUFU):c.553A>T (p.Met185Leu)
NM_016169.4(SUFU):c.556C>T (p.Gln186Ter)
NM_016169.4(SUFU):c.558G>A (p.Gln186=)
NM_016169.4(SUFU):c.55_69dup (p.Pro23_Pro24insGlyProThrAlaPro)
NM_016169.4(SUFU):c.561C>G (p.Pro187=) rs769503197
NM_016169.4(SUFU):c.563T>C (p.Val188Ala) rs2063416415
NM_016169.4(SUFU):c.56G>A (p.Gly19Asp) rs1589969913
NM_016169.4(SUFU):c.570A>G (p.Thr190=)
NM_016169.4(SUFU):c.573C>T (p.Pro191=) rs1170074019
NM_016169.4(SUFU):c.576dup (p.Gly193fs) rs2135867295
NM_016169.4(SUFU):c.581T>C (p.Val194Ala)
NM_016169.4(SUFU):c.581del (p.Val194fs)
NM_016169.4(SUFU):c.585_586dup (p.Thr196fs) rs1554852279
NM_016169.4(SUFU):c.586A>C (p.Thr196Pro) rs2135867363
NM_016169.4(SUFU):c.586A>G (p.Thr196Ala) rs2135867363
NM_016169.4(SUFU):c.587C>T (p.Thr196Ile) rs2063416715
NM_016169.4(SUFU):c.588C>G (p.Thr196=)
NM_016169.4(SUFU):c.58C>G (p.Pro20Ala)
NM_016169.4(SUFU):c.592C>G (p.Leu198Val)
NM_016169.4(SUFU):c.597+11G>A rs754485815
NM_016169.4(SUFU):c.597+12G>C
NM_016169.4(SUFU):c.597+13T>C
NM_016169.4(SUFU):c.597+15G>A
NM_016169.4(SUFU):c.597+19G>A
NM_016169.4(SUFU):c.597+19G>T
NM_016169.4(SUFU):c.597+1G>C rs1590062006
NM_016169.4(SUFU):c.597+5G>A rs1590062007
NM_016169.4(SUFU):c.597+6dup
NM_016169.4(SUFU):c.597+8A>C rs2135867474
NM_016169.4(SUFU):c.597+9C>A
NM_016169.4(SUFU):c.597+9C>T rs768196164
NM_016169.4(SUFU):c.597G>A (p.Gln199=) rs1060501112
NM_016169.4(SUFU):c.598-12C>G
NM_016169.4(SUFU):c.598-14A>G
NM_016169.4(SUFU):c.598-18T>C
NM_016169.4(SUFU):c.598-4T>C rs2135870306
NM_016169.4(SUFU):c.598-4T>G rs2135870306
NM_016169.4(SUFU):c.598-6C>T rs2135870298
NM_016169.4(SUFU):c.598-8G>C rs2135870288
NM_016169.4(SUFU):c.598-8G>T rs2135870288
NM_016169.4(SUFU):c.59C>T (p.Pro20Leu)
NM_016169.4(SUFU):c.600C>A (p.Ile200=)
NM_016169.4(SUFU):c.600C>G (p.Ile200Met) rs149513330
NM_016169.4(SUFU):c.603T>C (p.Val201=) rs1554852370
NM_016169.4(SUFU):c.60G>T (p.Pro20=) rs1589969926
NM_016169.4(SUFU):c.614C>T (p.Thr205Ile) rs1478836560
NM_016169.4(SUFU):c.616G>A (p.Glu206Lys) rs1590062858
NM_016169.4(SUFU):c.618A>C (p.Glu206Asp)
NM_016169.4(SUFU):c.618A>T (p.Glu206Asp)
NM_016169.4(SUFU):c.624A>C (p.Leu208=)
NM_016169.4(SUFU):c.624A>G (p.Leu208=) rs761722899
NM_016169.4(SUFU):c.626A>C (p.His209Pro) rs1590062872
NM_016169.4(SUFU):c.62C>T (p.Thr21Ile)
NM_016169.4(SUFU):c.633C>T (p.Ala211=) rs2135870571
NM_016169.4(SUFU):c.635A>G (p.Gln212Arg) rs2063428727
NM_016169.4(SUFU):c.637C>T (p.Gln213Ter) rs907135467
NM_016169.4(SUFU):c.639G>A (p.Gln213=) rs1590062886
NM_016169.4(SUFU):c.63T>C (p.Thr21=) rs1589969931
NM_016169.4(SUFU):c.642G>A (p.Trp214Ter)
NM_016169.4(SUFU):c.645C>G (p.Asn215Lys) rs551772204
NM_016169.4(SUFU):c.646G>A (p.Gly216Arg) rs2063429038
NM_016169.4(SUFU):c.649C>A (p.Gln217Lys)
NM_016169.4(SUFU):c.649_661del (p.Gln217fs) rs1590062899
NM_016169.4(SUFU):c.654C>A (p.Gly218=) rs1227186441
NM_016169.4(SUFU):c.654C>T (p.Gly218=) rs1227186441
NM_016169.4(SUFU):c.65C>A (p.Ala22Asp) rs761240106
NM_016169.4(SUFU):c.65C>T (p.Ala22Val) rs761240106
NM_016169.4(SUFU):c.660G>A (p.Leu220=) rs2135870749
NM_016169.4(SUFU):c.661G>A (p.Glu221Lys)
NM_016169.4(SUFU):c.663G>A (p.Glu221=)
NM_016169.4(SUFU):c.663G>T (p.Glu221Asp)
NM_016169.4(SUFU):c.664C>G (p.Leu222Val) rs765345575
NM_016169.4(SUFU):c.664C>T (p.Leu222=) rs765345575
NM_016169.4(SUFU):c.666G>C (p.Leu222=)
NM_016169.4(SUFU):c.668T>C (p.Leu223Pro)
NM_016169.4(SUFU):c.669G>A (p.Leu223=) rs1432212427
NM_016169.4(SUFU):c.669G>C (p.Leu223=)
NM_016169.4(SUFU):c.66C>A (p.Ala22=) rs1265496966
NM_016169.4(SUFU):c.66C>G (p.Ala22=)
NM_016169.4(SUFU):c.66C>T (p.Ala22=) rs1265496966
NM_016169.4(SUFU):c.670C>T (p.Arg224Trp) rs1590062935
NM_016169.4(SUFU):c.673A>T (p.Thr225Ser) rs2063429642
NM_016169.4(SUFU):c.674C>G (p.Thr225Arg) rs1432427138
NM_016169.4(SUFU):c.677T>C (p.Val226Ala) rs895181370
NM_016169.4(SUFU):c.678G>T (p.Val226=)
NM_016169.4(SUFU):c.67C>G (p.Pro23Ala) rs766666529
NM_016169.4(SUFU):c.681T>C (p.Pro227=)
NM_016169.4(SUFU):c.683+10C>A
NM_016169.4(SUFU):c.683+10del
NM_016169.4(SUFU):c.683+18G>A
NM_016169.4(SUFU):c.683+19T>C
NM_016169.4(SUFU):c.683+1G>A rs2135870923
NM_016169.4(SUFU):c.683+21_683+24dup
NM_016169.4(SUFU):c.683+3G>A rs1590062961
NM_016169.4(SUFU):c.683+7A>G rs764695403
NM_016169.4(SUFU):c.683+7A>T
NM_016169.4(SUFU):c.683+8C>G
NM_016169.4(SUFU):c.684-11C>T
NM_016169.4(SUFU):c.684-11del rs1650612996
NM_016169.4(SUFU):c.684-20T>C
NM_016169.4(SUFU):c.684-2A>G rs1590063305
NM_016169.4(SUFU):c.684-5C>T
NM_016169.4(SUFU):c.684-6C>T
NM_016169.4(SUFU):c.686C>G (p.Ala229Gly) rs1590063307
NM_016169.4(SUFU):c.686C>T (p.Ala229Val) rs1590063307
NM_016169.4(SUFU):c.687T>C (p.Ala229=)
NM_016169.4(SUFU):c.68C>G (p.Pro23Arg)
NM_016169.4(SUFU):c.694C>G (p.Pro232Ala) rs1060501110
NM_016169.4(SUFU):c.694C>T (p.Pro232Ser) rs1060501110
NM_016169.4(SUFU):c.695C>T (p.Pro232Leu) rs1240436102
NM_016169.4(SUFU):c.696C>G (p.Pro232=) rs2063434189
NM_016169.4(SUFU):c.696C>T (p.Pro232=) rs2063434189
NM_016169.4(SUFU):c.697T>C (p.Trp233Arg) rs1590063333
NM_016169.4(SUFU):c.69C>G (p.Pro23=)
NM_016169.4(SUFU):c.69C>T (p.Pro23=) rs1320688671
NM_016169.4(SUFU):c.6G>A (p.Ala2=) rs746555296
NM_016169.4(SUFU):c.702G>T (p.Leu234=)
NM_016169.4(SUFU):c.706A>G (p.Thr236Ala)
NM_016169.4(SUFU):c.708T>C (p.Thr236=) rs2135872255
NM_016169.4(SUFU):c.70C>A (p.Pro24Thr)
NM_016169.4(SUFU):c.70C>G (p.Pro24Ala) rs1219870817
NM_016169.4(SUFU):c.70C>T (p.Pro24Ser) rs1219870817
NM_016169.4(SUFU):c.711C>T (p.Asp237=)
NM_016169.4(SUFU):c.712A>G (p.Met238Val) rs2063434374
NM_016169.4(SUFU):c.713T>C (p.Met238Thr) rs2063434396
NM_016169.4(SUFU):c.714G>A (p.Met238Ile)
NM_016169.4(SUFU):c.715C>G (p.Arg239Gly) rs369465986
NM_016169.4(SUFU):c.715C>T (p.Arg239Trp) rs369465986
NM_016169.4(SUFU):c.716G>A (p.Arg239Gln) rs1403040084
NM_016169.4(SUFU):c.71C>A (p.Pro24Gln) rs754218597
NM_016169.4(SUFU):c.71C>T (p.Pro24Leu)
NM_016169.4(SUFU):c.71del (p.Pro24fs) rs587776579
NM_016169.4(SUFU):c.71dup (p.Ala25fs) rs587776579
NM_016169.4(SUFU):c.720G>A (p.Arg240=)
NM_016169.4(SUFU):c.727A>T (p.Thr243Ser) rs762294261
NM_016169.4(SUFU):c.72G>A (p.Pro24=) rs1322344970
NM_016169.4(SUFU):c.731T>C (p.Ile244Thr) rs2063435042
NM_016169.4(SUFU):c.734T>C (p.Phe245Ser) rs1303650670
NM_016169.4(SUFU):c.73G>A (p.Ala25Thr) rs2135597901
NM_016169.4(SUFU):c.73dup (p.Ala25fs) rs2135597894
NM_016169.4(SUFU):c.741C>G (p.Ile247Met) rs2135872473
NM_016169.4(SUFU):c.741C>T (p.Ile247=) rs2135872473
NM_016169.4(SUFU):c.742G>C (p.Asp248His) rs1283509771
NM_016169.4(SUFU):c.743A>G (p.Asp248Gly) rs2135872517
NM_016169.4(SUFU):c.748C>T (p.His250Tyr) rs2135872528
NM_016169.4(SUFU):c.749A>G (p.His250Arg) rs750808785
NM_016169.4(SUFU):c.74C>T (p.Ala25Val) rs2062291323
NM_016169.4(SUFU):c.753G>C (p.Leu251=) rs2063435526
NM_016169.4(SUFU):c.753_756+2dup rs2063435496
NM_016169.4(SUFU):c.756+10G>T
NM_016169.4(SUFU):c.756+12G>C
NM_016169.4(SUFU):c.756+19A>G
NM_016169.4(SUFU):c.756A>C (p.Gln252His) rs1317467424
NM_016169.4(SUFU):c.757-11_757-7del rs1060501103
NM_016169.4(SUFU):c.757-15G>T rs1564698642
NM_016169.4(SUFU):c.757-17T>G rs2135880991
NM_016169.4(SUFU):c.757-4G>T rs1554852773
NM_016169.4(SUFU):c.757-5A>G rs1590065871
NM_016169.4(SUFU):c.757-6A>G rs2135881035
NM_016169.4(SUFU):c.757-7C>T rs2135881029
NM_016169.4(SUFU):c.757G>A (p.Glu253Lys)
NM_016169.4(SUFU):c.758A>G (p.Glu253Gly) rs2135881068
NM_016169.4(SUFU):c.761G>C (p.Arg254Thr) rs2135881076
NM_016169.4(SUFU):c.762A>G (p.Arg254=) rs2135881090
NM_016169.4(SUFU):c.771A>G (p.Lys257=)
NM_016169.4(SUFU):c.773G>C (p.Gly258Ala)
NM_016169.4(SUFU):c.774C>A (p.Gly258=) rs2063470954
NM_016169.4(SUFU):c.775A>G (p.Ile259Val)
NM_016169.4(SUFU):c.777C>A (p.Ile259=)
NM_016169.4(SUFU):c.777C>G (p.Ile259Met) rs749533220
NM_016169.4(SUFU):c.778G>C (p.Glu260Gln) rs775245784
NM_016169.4(SUFU):c.781A>C (p.Thr261Pro) rs2063471103
NM_016169.4(SUFU):c.782C>T (p.Thr261Ile) rs2135881195
NM_016169.4(SUFU):c.78C>T (p.Phe26=) rs2135597954
NM_016169.4(SUFU):c.791C>G (p.Ser264Cys)
NM_016169.4(SUFU):c.793A>T (p.Asn265Tyr)
NM_016169.4(SUFU):c.795C>T (p.Asn265=) rs2135881259
NM_016169.4(SUFU):c.79G>A (p.Ala27Thr) rs2062291537
NM_016169.4(SUFU):c.803G>A (p.Gly268Asp)
NM_016169.4(SUFU):c.804T>C (p.Gly268=) rs2135881315
NM_016169.4(SUFU):c.809G>A (p.Ser270Asn)
NM_016169.4(SUFU):c.80C>T (p.Ala27Val) rs1664857380
NM_016169.4(SUFU):c.810T>G (p.Ser270Arg) rs2063471312
NM_016169.4(SUFU):c.811_818dup (p.Cys273fs) rs2063471372
NM_016169.4(SUFU):c.812C>A (p.Ala271Asp)
NM_016169.4(SUFU):c.815A>C (p.Lys272Thr)
NM_016169.4(SUFU):c.815A>G (p.Lys272Arg) rs2063471403
NM_016169.4(SUFU):c.81T>G (p.Ala27=)
NM_016169.4(SUFU):c.820G>A (p.Ala274Thr)
NM_016169.4(SUFU):c.822C>T (p.Ala274=) rs2135881424
NM_016169.4(SUFU):c.824G>A (p.Trp275Ter) rs1564698683
NM_016169.4(SUFU):c.825G>A (p.Trp275Ter) rs1590065940
NM_016169.4(SUFU):c.826G>A (p.Asp276Asn)
NM_016169.4(SUFU):c.826G>T (p.Asp276Tyr)
NM_016169.4(SUFU):c.827A>T (p.Asp276Val) rs772598822
NM_016169.4(SUFU):c.828T>C (p.Asp276=)
NM_016169.4(SUFU):c.82T>G (p.Ser28Ala)
NM_016169.4(SUFU):c.82_86del (p.Ser28fs) rs2135597925
NM_016169.4(SUFU):c.831C>A (p.Asp277Glu)
NM_016169.4(SUFU):c.831C>T (p.Asp277=) rs1340330498
NM_016169.4(SUFU):c.832C>T (p.Leu278=) rs1060504147
NM_016169.4(SUFU):c.834G>A (p.Leu278=)
NM_016169.4(SUFU):c.834G>C (p.Leu278=) rs773747013
NM_016169.4(SUFU):c.836G>A (p.Ser279Asn) rs1486885056
NM_016169.4(SUFU):c.837C>G (p.Ser279Arg) rs1564698718
NM_016169.4(SUFU):c.838C>A (p.Arg280=)
NM_016169.4(SUFU):c.840G>T (p.Arg280=)
NM_016169.4(SUFU):c.841C>A (p.Pro281Thr) rs2063471841
NM_016169.4(SUFU):c.841C>G (p.Pro281Ala)
NM_016169.4(SUFU):c.841C>T (p.Pro281Ser) rs2063471841
NM_016169.4(SUFU):c.843C>A (p.Pro281=) rs1590066015
NM_016169.4(SUFU):c.844C>G (p.Pro282Ala) rs1215810497
NM_016169.4(SUFU):c.846C>A (p.Pro282=) rs762558038
NM_016169.4(SUFU):c.846C>G (p.Pro282=) rs762558038
NM_016169.4(SUFU):c.846dup (p.Glu283fs) rs1477199832
NM_016169.4(SUFU):c.847G>A (p.Glu283Lys) rs1554852789
NM_016169.4(SUFU):c.847G>C (p.Glu283Gln) rs1554852789
NM_016169.4(SUFU):c.847dup (p.Glu283fs) rs2063472158
NM_016169.4(SUFU):c.848A>C (p.Glu283Ala)
NM_016169.4(SUFU):c.84G>C (p.Ser28=) rs376752468
NM_016169.4(SUFU):c.852T>A (p.Asp284Glu)
NM_016169.4(SUFU):c.852_860dup (p.Asp285_Asp287dup) rs2135881773
NM_016169.4(SUFU):c.853G>A (p.Asp285Asn)
NM_016169.4(SUFU):c.853_861dup (p.Asp285_Asp287dup) rs1363458155
NM_016169.4(SUFU):c.855C>G (p.Asp285Glu) rs200206997
NM_016169.4(SUFU):c.858G>A (p.Glu286=)
NM_016169.4(SUFU):c.858G>C (p.Glu286Asp) rs1007675139
NM_016169.4(SUFU):c.859G>A (p.Asp287Asn) rs750436246
NM_016169.4(SUFU):c.859_863dup (p.Ser288fs) rs2135881899
NM_016169.4(SUFU):c.862A>T (p.Ser288Cys) rs2135881950
NM_016169.4(SUFU):c.865C>G (p.Arg289Gly) rs755961394
NM_016169.4(SUFU):c.865C>T (p.Arg289Trp) rs755961394
NM_016169.4(SUFU):c.868A>G (p.Ser290Gly) rs1406131774
NM_016169.4(SUFU):c.869G>A (p.Ser290Asn) rs749461207
NM_016169.4(SUFU):c.86T>G (p.Leu29Arg) rs2062291773
NM_016169.4(SUFU):c.870C>T (p.Ser290=) rs970618921
NM_016169.4(SUFU):c.872T>A (p.Ile291Asn)
NM_016169.4(SUFU):c.875G>A (p.Cys292Tyr) rs193921097
NM_016169.4(SUFU):c.875G>T (p.Cys292Phe) rs193921097
NM_016169.4(SUFU):c.876C>T (p.Cys292=)
NM_016169.4(SUFU):c.877A>C (p.Ile293Leu)
NM_016169.4(SUFU):c.877A>G (p.Ile293Val) rs574002050
NM_016169.4(SUFU):c.878T>A (p.Ile293Asn) rs1487599100
NM_016169.4(SUFU):c.87C>T (p.Leu29=) rs2135598027
NM_016169.4(SUFU):c.87_88del (p.Phe30fs)
NM_016169.4(SUFU):c.881G>A (p.Gly294Asp) rs761234425
NM_016169.4(SUFU):c.882C>T (p.Gly294=) rs2135882176
NM_016169.4(SUFU):c.883A>G (p.Thr295Ala)
NM_016169.4(SUFU):c.885A>C (p.Thr295=)
NM_016169.4(SUFU):c.885A>G (p.Thr295=) rs2135882202
NM_016169.4(SUFU):c.886C>T (p.Gln296Ter) rs2135882212
NM_016169.4(SUFU):c.887A>G (p.Gln296Arg) rs2135882221
NM_016169.4(SUFU):c.890C>G (p.Pro297Arg)
NM_016169.4(SUFU):c.890C>T (p.Pro297Leu) rs1590066137
NM_016169.4(SUFU):c.891C>G (p.Pro297=) rs1590066144
NM_016169.4(SUFU):c.892C>G (p.Arg298Gly)
NM_016169.4(SUFU):c.892del (p.Arg298fs) rs2063473101
NM_016169.4(SUFU):c.893G>A (p.Arg298Gln) rs1197687313
NM_016169.4(SUFU):c.893_894insTGCCCCG (p.Arg299fs) rs2135882232
NM_016169.4(SUFU):c.894dup (p.Arg299fs)
NM_016169.4(SUFU):c.895C>G (p.Arg299Gly)
NM_016169.4(SUFU):c.895C>T (p.Arg299Ter) rs1590066162
NM_016169.4(SUFU):c.895_896insTGTGT (p.Arg299fs) rs1564698850
NM_016169.4(SUFU):c.897_898insAGGTGCCGGGCACACAGCCCCGGCGAAGAGTGTGCATCGGCACA (p.Leu300fs)
NM_016169.4(SUFU):c.8A>G (p.Glu3Gly) rs757097388
NM_016169.4(SUFU):c.900C>T (p.Leu300=) rs1174044335
NM_016169.4(SUFU):c.902C>G (p.Ser301Cys) rs1554852823
NM_016169.4(SUFU):c.902C>T (p.Ser301Phe) rs1554852823
NM_016169.4(SUFU):c.907A>G (p.Lys303Glu)
NM_016169.4(SUFU):c.90T>C (p.Phe30=) rs1589970035
NM_016169.4(SUFU):c.910+13A>G
NM_016169.4(SUFU):c.910+15T>G
NM_016169.4(SUFU):c.910+4G>A rs1060501104
NM_016169.4(SUFU):c.910+5G>A rs2135882479
NM_016169.4(SUFU):c.910+7G>A
NM_016169.4(SUFU):c.910+7G>C
NM_016169.4(SUFU):c.910G>A (p.Asp304Asn)
NM_016169.4(SUFU):c.910G>T (p.Asp304Tyr)
NM_016169.4(SUFU):c.911-10G>A
NM_016169.4(SUFU):c.911-10G>T rs747454071
NM_016169.4(SUFU):c.911-12G>A rs1455480257
NM_016169.4(SUFU):c.911-14T>C
NM_016169.4(SUFU):c.911-17T>C rs2063494764
NM_016169.4(SUFU):c.911-1G>T
NM_016169.4(SUFU):c.911-2A>C
NM_016169.4(SUFU):c.911-4G>A
NM_016169.4(SUFU):c.911-4G>T rs2135888490
NM_016169.4(SUFU):c.911-8C>T rs771361493
NM_016169.4(SUFU):c.912C>T (p.Asp304=)
NM_016169.4(SUFU):c.913A>G (p.Thr305Ala) rs1590067989
NM_016169.4(SUFU):c.913A>T (p.Thr305Ser) rs1590067989
NM_016169.4(SUFU):c.915A>G (p.Thr305=)
NM_016169.4(SUFU):c.91C>A (p.Pro31Thr) rs1554840836
NM_016169.4(SUFU):c.91C>G (p.Pro31Ala) rs1554840836
NM_016169.4(SUFU):c.91C>T (p.Pro31Ser) rs1554840836
NM_016169.4(SUFU):c.924C>G (p.Ile308Met)
NM_016169.4(SUFU):c.927G>A (p.Arg309=)
NM_016169.4(SUFU):c.928G>C (p.Glu310Gln) rs376797758
NM_016169.4(SUFU):c.92C>T (p.Pro31Leu) rs2135598089
NM_016169.4(SUFU):c.933C>T (p.Thr311=) rs767071744
NM_016169.4(SUFU):c.934del (p.Thr311_Leu312insTer) rs2135888594
NM_016169.4(SUFU):c.938G>A (p.Arg313Lys)
NM_016169.4(SUFU):c.939G>A (p.Arg313=)
NM_016169.4(SUFU):c.941G>A (p.Arg314Lys) rs369741612
NM_016169.4(SUFU):c.944G>A (p.Gly315Glu) rs2135888649
NM_016169.4(SUFU):c.946C>T (p.Leu316Phe) rs1554853004
NM_016169.4(SUFU):c.948C>T (p.Leu316=) rs1236947004
NM_016169.4(SUFU):c.949_954del (p.Glu317_Ile318del) rs2063495678
NM_016169.4(SUFU):c.951G>A (p.Glu317=)
NM_016169.4(SUFU):c.956A>G (p.Asn319Ser) rs1479527039
NM_016169.4(SUFU):c.959G>A (p.Ser320Asn) rs753862598
NM_016169.4(SUFU):c.959G>C (p.Ser320Thr) rs753862598
NM_016169.4(SUFU):c.95C>T (p.Pro32Leu) rs2135598107
NM_016169.4(SUFU):c.95del (p.Pro32fs)
NM_016169.4(SUFU):c.960C>A (p.Ser320Arg) rs754716152
NM_016169.4(SUFU):c.964C>G (p.Pro322Ala)
NM_016169.4(SUFU):c.965C>A (p.Pro322His) rs2135888788
NM_016169.4(SUFU):c.965C>T (p.Pro322Leu)
NM_016169.4(SUFU):c.969C>G (p.Val323=)
NM_016169.4(SUFU):c.970C>T (p.Leu324Phe) rs2063495996
NM_016169.4(SUFU):c.972T>C (p.Leu324=)
NM_016169.4(SUFU):c.974C>T (p.Pro325Leu) rs2135888846
NM_016169.4(SUFU):c.978A>G (p.Pro326=)
NM_016169.4(SUFU):c.978A>T (p.Pro326=) rs2135888873
NM_016169.4(SUFU):c.983A>G (p.Asn328Ser) rs2135888901
NM_016169.4(SUFU):c.985C>G (p.Pro329Ala) rs2063496120
NM_016169.4(SUFU):c.985C>T (p.Pro329Ser)
NM_016169.4(SUFU):c.987T>G (p.Pro329=) rs906267027
NM_016169.4(SUFU):c.989A>G (p.Gln330Arg) rs1060501107
NM_016169.4(SUFU):c.997A>G (p.Asn333Asp)
NM_020987.5(ANK3):c.7068dup (p.Glu2357fs)
NM_021926.4(ALX4):c.2T>C (p.Met1Thr) rs1475499990
NM_022124.6(CDH23):c.1087del (p.Val363fs) rs747955135
NM_022124.6(CDH23):c.1120_1123del (p.Val374fs)
NM_022124.6(CDH23):c.1143_1176del rs764949139
NM_022124.6(CDH23):c.1270G>A (p.Val424Met) rs2305207
NM_022124.6(CDH23):c.1386_1389del (p.Gln462fs) rs1862873659
NM_022124.6(CDH23):c.1417G>A (p.Val473Ile) rs771847607
NM_022124.6(CDH23):c.1428dup (p.Thr477fs) rs750803248
NM_022124.6(CDH23):c.1447delinsTTT (p.Leu483fs)
NM_022124.6(CDH23):c.1535C>T (p.Thr512Met)
NM_022124.6(CDH23):c.1735C>T (p.Gln579Ter) rs779974496
NM_022124.6(CDH23):c.1859-1G>T rs1274105133
NM_022124.6(CDH23):c.1859-2A>G
NM_022124.6(CDH23):c.1891C>T (p.Gln631Ter)
NM_022124.6(CDH23):c.1936del (p.Ala646fs)
NM_022124.6(CDH23):c.1987-1G>T
NM_022124.6(CDH23):c.2161_2166delinsGTGA (p.Ile721fs)
NM_022124.6(CDH23):c.2206C>T (p.Arg736Ter) rs1230303971
NM_022124.6(CDH23):c.2289+1G>C
NM_022124.6(CDH23):c.2349C>G (p.Tyr783Ter) rs1589344004
NM_022124.6(CDH23):c.2394del (p.Thr799fs)
NM_022124.6(CDH23):c.2397+1G>A
NM_022124.6(CDH23):c.2527del (p.Glu843fs)
NM_022124.6(CDH23):c.2587+1G>C
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.2844dup (p.Thr949fs)
NM_022124.6(CDH23):c.2846C>T (p.Thr949Ile)
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.288+2T>C
NM_022124.6(CDH23):c.2922del (p.Lys975fs) rs1338446830
NM_022124.6(CDH23):c.2953+1G>A
NM_022124.6(CDH23):c.2954-2A>G
NM_022124.6(CDH23):c.3292_3295dup (p.Arg1099fs)
NM_022124.6(CDH23):c.3330C>G (p.Ser1110Arg) rs371962929
NM_022124.6(CDH23):c.3397G>T (p.Glu1133Ter)
NM_022124.6(CDH23):c.345_346del (p.Arg116fs)
NM_022124.6(CDH23):c.3486dup (p.Pro1163fs)
NM_022124.6(CDH23):c.3579+2T>C rs1385831846
NM_022124.6(CDH23):c.3591C>A (p.Tyr1197Ter)
NM_022124.6(CDH23):c.3634C>T (p.Gln1212Ter)
NM_022124.6(CDH23):c.3655C>T (p.Arg1219Ter) rs2132820264
NM_022124.6(CDH23):c.3706C>T (p.Arg1236Ter) rs397517327
NM_022124.6(CDH23):c.3720_3733del (p.Asp1240fs)
NM_022124.6(CDH23):c.3769G>T (p.Glu1257Ter)
NM_022124.6(CDH23):c.380A>G (p.Asp127Gly) rs876657754
NM_022124.6(CDH23):c.3862C>T (p.Gln1288Ter)
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn) rs121908351
NM_022124.6(CDH23):c.4101_4104+3del
NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT rs1589384283
NM_022124.6(CDH23):c.4136G>T (p.Arg1379Leu) rs767004225
NM_022124.6(CDH23):c.4195G>A (p.Asp1399Asn)
NM_022124.6(CDH23):c.4207-2A>G
NM_022124.6(CDH23):c.4209+1G>T rs727503841
NM_022124.6(CDH23):c.4210-1G>A rs1166948274
NM_022124.6(CDH23):c.4210-2A>G rs557620034
NM_022124.6(CDH23):c.4300del (p.Val1434fs)
NM_022124.6(CDH23):c.4332G>A (p.Trp1444Ter)
NM_022124.6(CDH23):c.4426del (p.Ile1476fs)
NM_022124.6(CDH23):c.4428del (p.Ile1476fs)
NM_022124.6(CDH23):c.4440del (p.Phe1480fs)
NM_022124.6(CDH23):c.4471dup (p.Asp1491fs)
NM_022124.6(CDH23):c.4488G>C (p.Gln1496His) rs121908347
NM_022124.6(CDH23):c.4617+5G>C rs772189237
NM_022124.6(CDH23):c.4720_4721del (p.Met1574fs)
NM_022124.6(CDH23):c.4759_4766del (p.Thr1587fs) rs759981467
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp) rs137937502
NM_022124.6(CDH23):c.4863C>G (p.Tyr1621Ter)
NM_022124.6(CDH23):c.489del (p.Gly165fs)
NM_022124.6(CDH23):c.5101G>A (p.Glu1701Lys)
NM_022124.6(CDH23):c.5116C>T (p.Arg1706Cys) rs759876454
NM_022124.6(CDH23):c.5125del (p.Thr1708_Leu1709insTer) rs2132927249
NM_022124.6(CDH23):c.5130C>T (p.Ile1710=) rs111033487
NM_022124.6(CDH23):c.5147A>C (p.Gln1716Pro) rs758382198
NM_022124.6(CDH23):c.5188-1G>A
NM_022124.6(CDH23):c.5277_5283del (p.Gly1760fs)
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_022124.6(CDH23):c.5502+2T>G
NM_022124.6(CDH23):c.5534A>G (p.Asn1845Ser)
NM_022124.6(CDH23):c.562dup (p.Thr188fs) rs1857435780
NM_022124.6(CDH23):c.5712+1G>A rs397517341
NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys) rs1060499789
NM_022124.6(CDH23):c.5820+2T>C
NM_022124.6(CDH23):c.5820+5G>A rs2132940635
NM_022124.6(CDH23):c.5931del (p.Leu1978fs)
NM_022124.6(CDH23):c.5976del (p.Asp1993fs)
NM_022124.6(CDH23):c.6050-1G>A rs762805265
NM_022124.6(CDH23):c.6133G>A (p.Asp2045Asn) rs121908348
NM_022124.6(CDH23):c.624+1G>A
NM_022124.6(CDH23):c.6307G>T (p.Glu2103Ter) rs1397549896
NM_022124.6(CDH23):c.6311_6344delinsCCA (p.Leu2104fs)
NM_022124.6(CDH23):c.6344del (p.Arg2115fs) rs1589424694
NM_022124.6(CDH23):c.6346_6347del (p.Phe2116fs)
NM_022124.6(CDH23):c.6377delinsCGT (p.Arg2126fs)
NM_022124.6(CDH23):c.6393del (p.Ile2132fs) rs754876029
NM_022124.6(CDH23):c.6464C>A (p.Ser2155Ter)
NM_022124.6(CDH23):c.6516del (p.Glu2173fs)
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn) rs121908349
NM_022124.6(CDH23):c.6620del (p.Leu2207fs)
NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu) rs537236734
NM_022124.6(CDH23):c.6675dup (p.Asn2226fs)
NM_022124.6(CDH23):c.6676_6677insTT (p.Asn2226fs)
NM_022124.6(CDH23):c.66G>A (p.Trp22Ter)
NM_022124.6(CDH23):c.67+1G>A
NM_022124.6(CDH23):c.6821_6822del (p.Val2274fs)
NM_022124.6(CDH23):c.6831del (p.Lys2278fs) rs1200012430
NM_022124.6(CDH23):c.6841G>A (p.Val2281Ile) rs2132965400
NM_022124.6(CDH23):c.6942del (p.Leu2315fs)
NM_022124.6(CDH23):c.6944_6945del (p.Leu2315fs)
NM_022124.6(CDH23):c.6968del (p.Pro2323fs) rs397517350
NM_022124.6(CDH23):c.7022del (p.Pro2341fs)
NM_022124.6(CDH23):c.702dup (p.Ile235fs)
NM_022124.6(CDH23):c.7054+1G>A rs1057524265
NM_022124.6(CDH23):c.7101G>A (p.Trp2367Ter)
NM_022124.6(CDH23):c.7113C>T (p.Thr2371=) rs747544364
NM_022124.6(CDH23):c.7210C>T (p.Gln2404Ter) rs2132968121
NM_022124.6(CDH23):c.7258del (p.Ile2420fs)
NM_022124.6(CDH23):c.7483-1G>A
NM_022124.6(CDH23):c.753+1G>A rs1857755312
NM_022124.6(CDH23):c.754-2A>G rs2132400338
NM_022124.6(CDH23):c.7558G>A (p.Glu2520Lys)
NM_022124.6(CDH23):c.7568del (p.Pro2523fs)
NM_022124.6(CDH23):c.7624_7630del (p.Asn2541_Gly2542insTer)
NM_022124.6(CDH23):c.778G>A (p.Ala260Thr) rs373294595
NM_022124.6(CDH23):c.778G>T (p.Ala260Ser) rs373294595
NM_022124.6(CDH23):c.7841del (p.Pro2614fs)
NM_022124.6(CDH23):c.7849G>C (p.Gly2617Arg) rs369379727
NM_022124.6(CDH23):c.7872G>A (p.Glu2624=) rs1292050472
NM_022124.6(CDH23):c.7902_7903insTTACGAG (p.Val2635fs) rs1221464948
NM_022124.6(CDH23):c.7908C>A (p.Tyr2636Ter)
NM_022124.6(CDH23):c.7908C>G (p.Tyr2636Ter) rs878853337
NM_022124.6(CDH23):c.7987TTC[1] (p.Phe2664del) rs774559018
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.8197C>T (p.Gln2733Ter) rs1841758961
NM_022124.6(CDH23):c.8229C>T (p.Arg2743=) rs372996083
NM_022124.6(CDH23):c.8308+1G>A rs757675676
NM_022124.6(CDH23):c.8309-1G>A
NM_022124.6(CDH23):c.8352del (p.Leu2785fs)
NM_022124.6(CDH23):c.8432G>A (p.Trp2811Ter) rs1841773052
NM_022124.6(CDH23):c.8443del (p.Arg2815fs)
NM_022124.6(CDH23):c.8498G>A (p.Arg2833His) rs534575559
NM_022124.6(CDH23):c.8532_8533del (p.Arg2845fs)
NM_022124.6(CDH23):c.8590G>T (p.Glu2864Ter)
NM_022124.6(CDH23):c.860_863dup (p.Tyr288Ter)
NM_022124.6(CDH23):c.871G>A (p.Gly291Arg) rs767343063
NM_022124.6(CDH23):c.871G>T (p.Gly291Ter) rs767343063
NM_022124.6(CDH23):c.8722+1G>A
NM_022124.6(CDH23):c.8764del (p.Ala2922fs)
NM_022124.6(CDH23):c.9109C>T (p.Gln3037Ter)
NM_022124.6(CDH23):c.913del (p.Leu305fs) rs1393567447
NM_022124.6(CDH23):c.9176del (p.Pro3059fs) rs1554877806
NM_022124.6(CDH23):c.9264G>A (p.Trp3088Ter)
NM_022124.6(CDH23):c.9284dup (p.Arg3096fs) rs1564808024
NM_022124.6(CDH23):c.9319+1G>T
NM_022124.6(CDH23):c.9381-2A>G
NM_022124.6(CDH23):c.9412C>T (p.Arg3138Trp) rs1052484950
NM_022124.6(CDH23):c.9471_9474del (p.Ser3157fs)
NM_022124.6(CDH23):c.9489G>A (p.Trp3163Ter)
NM_022124.6(CDH23):c.9556C>T (p.Arg3186Ter) rs773464867
NM_022124.6(CDH23):c.9629_9632del (p.Ile3210fs) rs397517367
NM_022124.6(CDH23):c.9658del (p.Glu3220fs) rs922700209
NM_022124.6(CDH23):c.9700del (p.Val3234fs)
NM_022124.6(CDH23):c.9726del (p.Ser3243fs) rs767176528
NM_022124.6(CDH23):c.9738+1G>T
NM_022124.6(CDH23):c.9885C>T (p.Thr3295=) rs1382062973
NM_022455.5(NSD1):c.7147G>T (p.Gly2383Cys) rs1554207664
NM_023110.3(FGFR1):c.1543A>G (p.Met515Val) rs1057519899
NM_023110.3(FGFR1):c.1636A>G (p.Asn546Asp) rs1057519898
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_023110.3(FGFR1):c.1968G>C (p.Lys656Asn) rs1057519897
NM_032489.3(ACRBP):c.1040dup (p.Tyr348fs) rs1949067963
NM_054021.2(GPR101):c.1098C>A (p.Asp366Glu) rs1556379508
NM_054021.2(GPR101):c.924G>C (p.Glu308Asp) rs73637412
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
NM_152641.4(ARID2):c.1837C>T (p.Gln613Ter)
NM_177438.3(DICER1):c.1498A>T (p.Lys500Ter) rs875989782
NM_177438.3(DICER1):c.2458A>G (p.Thr820Ala) rs1595380820
NM_177438.3(DICER1):c.4050+1G>A rs875989783
NM_177438.3(DICER1):c.4407_4410del (p.Ser1470fs) rs875989784
NM_177438.3(DICER1):c.4633dup (p.Ser1545fs) rs875989781
NM_177438.3(DICER1):c.4754C>G (p.Ser1585Ter) rs875989779
NM_177438.3(DICER1):c.5103C>A (p.Tyr1701Ter) rs875989780
NM_177438.3(DICER1):c.5425G>A (p.Gly1809Arg) rs1595314951
NM_181523.3(PIK3R1):c.1126G>C (p.Gly376Arg) rs1057519757
NM_181523.3(PIK3R1):c.1690A>G (p.Asn564Asp) rs1057519841

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