ClinVar Miner

List of variants studied for craniosynostosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 742
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HGVS dbSNP gnomAD frequency
NM_020779.4(WDR35):c.2824-14G>T rs1191779 0.96807
NM_023110.2(FGFR1):c.-751C>T rs2445003 0.95502
NM_002449.5(MSX2):c.*1176G>C rs2890849 0.79238
NM_002449.5(MSX2):c.386T>C (p.Met129Thr) rs4242182 0.78320
NM_002449.5(MSX2):c.*1125A>G rs14459 0.76842
NM_002449.5(MSX2):c.*510A>G rs2381939 0.76399
NM_002449.5(MSX2):c.*1146T>C rs2890848 0.75720
NM_025132.4(WDR19):c.*229C>T rs7564 0.52060
NM_000141.5(FGFR2):c.2301+15C>T rs2278202 0.45747
NM_020779.4(WDR35):c.2496A>G (p.Glu832=) rs6741091 0.45165
NM_002381.5(MATN3):c.*176C>T rs7569975 0.44939
NM_000141.5(FGFR2):c.*259C>T rs1047057 0.43446
NM_023110.3(FGFR1):c.-636C>T rs3213849 0.34931
NM_020779.4(WDR35):c.2915A>G (p.Glu972Gly) rs1191778 0.31383
NM_025132.4(WDR19):c.891C>T (p.Cys297=) rs2167494 0.30055
NM_004282.4(BAG2):c.*4531G>A rs9382689 0.26771
NM_020779.4(WDR35):c.*523G>A rs957614 0.25621
NM_020779.4(WDR35):c.*231C>A rs1056233 0.25618
NM_002381.5(MATN3):c.1406-4C>T rs35973216 0.25515
NM_023110.3(FGFR1):c.*1632A>G rs13317 0.22837
NM_004282.4(BAG2):c.*3998A>G rs12211901 0.15833
NM_004282.4(BAG2):c.*4959T>C rs11398 0.15738
NM_016277.5(RAB23):c.*416G>C rs1411578 0.15575
NM_004282.4(BAG2):c.*2941T>C rs72868608 0.14761
NM_000141.5(FGFR2):c.-157A>G rs41258305 0.13622
NM_052989.3(IFT122):c.740+15G>A rs56379561 0.13063
NM_052989.3(IFT122):c.1654-12C>T rs112066509 0.12634
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) rs1040461 0.11850
NM_025132.4(WDR19):c.852A>G (p.Ser284=) rs17584431 0.11533
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr) rs755793 0.10553
NM_020779.4(WDR35):c.3121+12A>C rs28502265 0.10214
NM_020779.4(WDR35):c.*1050T>C rs10197890 0.10201
NM_020779.4(WDR35):c.*98T>C rs6748924 0.10155
NM_020779.4(WDR35):c.*2463C>T rs3731661 0.07941
NM_052989.3(IFT122):c.2060G>A (p.Arg687Gln) rs61740161 0.07498
NM_020779.4(WDR35):c.53A>G (p.Gln18Arg) rs1060742 0.07465
NM_023110.3(FGFR1):c.-385G>A rs2467531 0.06909
NM_023110.3(FGFR1):c.-699C>T rs328307 0.06862
NM_020779.4(WDR35):c.2599G>A (p.Ala867Thr) rs2293669 0.05563
NM_020779.4(WDR35):c.*1489G>A rs10182866 0.05128
NM_025132.4(WDR19):c.-9A>G rs60800612 0.05032
NM_003239.5(TGFB3):c.-614C>T rs11466414 0.04715
NM_020779.4(WDR35):c.*1127A>G rs75503594 0.04161
NM_025132.4(WDR19):c.910G>A (p.Val304Ile) rs75964850 0.03961
NM_020779.4(WDR35):c.*2957G>A rs76072774 0.03646
NM_020779.4(WDR35):c.549C>T (p.Tyr183=) rs34169020 0.03645
NM_025132.4(WDR19):c.3250G>A (p.Gly1084Ser) rs16995209 0.03548
NM_002449.5(MSX2):c.*658C>T rs10044147 0.03436
NM_004282.4(BAG2):c.*3846C>T rs62415930 0.03322
NM_002449.5(MSX2):c.-17C>G rs4647952 0.03140
NM_000141.5(FGFR2):c.-318G>C rs41301547 0.02864
NM_002449.5(MSX2):c.*416A>C rs10038500 0.02725
NM_002449.5(MSX2):c.*349T>C rs114567531 0.02667
NM_052985.3(IFT122):c.-206A>G rs3138334 0.02635
NM_052989.3(IFT122):c.109-15T>C rs114298924 0.02307
NM_000141.5(FGFR2):c.1941C>T (p.Leu647=) rs35337478 0.02240
NM_023110.2(FGFR1):c.-881G>A rs17182051 0.02149
NM_020779.4(WDR35):c.*2836C>T rs74469198 0.02096
NM_020779.4(WDR35):c.*2408G>C rs112569580 0.01898
NM_025132.4(WDR19):c.1357-10T>C rs16995189 0.01827
NM_000141.5(FGFR2):c.*469G>A rs41294351 0.01826
NM_020779.4(WDR35):c.*3268C>T rs113280329 0.01807
NM_004282.4(BAG2):c.*5020C>T rs182662 0.01805
NM_020779.4(WDR35):c.*1479C>T rs77400381 0.01800
NM_000141.5(FGFR2):c.-458C>A rs41301043 0.01688
NM_000141.5(FGFR2):c.*403A>G rs3135826 0.01590
NM_023110.3(FGFR1):c.2187-6C>T rs4647904 0.01503
NM_020779.4(WDR35):c.*1129C>T rs76845713 0.01385
NM_020779.4(WDR35):c.*2315G>C rs72779355 0.01383
NM_000141.5(FGFR2):c.*1319A>G rs3135830 0.01380
NM_052989.3(IFT122):c.3265+7C>T rs9836202 0.01370
NM_004282.4(BAG2):c.*3786T>C rs16888376 0.01354
NM_003239.5(TGFB3):c.-543T>A rs74448762 0.01331
NM_020779.4(WDR35):c.*553G>T rs79153401 0.01323
NM_004282.4(BAG2):c.*5460C>T rs16888378 0.01316
NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser) rs56234888 0.01307
NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln) rs113345685 0.01206
NM_052989.3(IFT122):c.2154C>T (p.His718=) rs116819033 0.01164
NM_020779.4(WDR35):c.3019C>T (p.Arg1007Cys) rs56395266 0.01130
NM_020779.4(WDR35):c.*1575_*1576dup rs202074829 0.01057
NM_052989.3(IFT122):c.1943A>C (p.Glu648Ala) rs144397126 0.01035
NM_052989.3(IFT122):c.1854C>T (p.Ser618=) rs146874343 0.00981
NM_025132.4(WDR19):c.1607G>C (p.Ser536Thr) rs115348383 0.00917
NM_052989.3(IFT122):c.2682G>A (p.Ala894=) rs61741773 0.00905
NM_025132.4(WDR19):c.2096G>A (p.Arg699Gln) rs138529452 0.00883
NM_052989.3(IFT122):c.2415C>T (p.Arg805=) rs61744218 0.00860
NM_025132.4(WDR19):c.1581C>A (p.Thr527=) rs114689848 0.00847
NM_020779.4(WDR35):c.1089G>A (p.Thr363=) rs79829477 0.00817
NM_000141.5(FGFR2):c.109+10T>G rs3135722 0.00799
NM_023110.3(FGFR1):c.600C>T (p.Asp200=) rs17175898 0.00782
NM_000141.5(FGFR2):c.294G>A (p.Thr98=) rs1047101 0.00776
NM_023110.3(FGFR1):c.2262G>A (p.Leu754=) rs56341011 0.00711
NM_052985.3(IFT122):c.-210C>A rs148987764 0.00690
NM_023110.3(FGFR1):c.-358C>T rs17175673 0.00647
NM_020779.4(WDR35):c.*1406A>G rs10197681 0.00613
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896 0.00589
NM_023110.3(FGFR1):c.345C>T (p.Ser115=) rs2915665 0.00567
NM_002449.5(MSX2):c.*466G>A rs148083483 0.00560
NM_023110.3(FGFR1):c.*2099T>G rs16887356 0.00560
NM_052989.3(IFT122):c.3303G>T (p.Gly1101=) rs111668739 0.00548
NM_020779.4(WDR35):c.*531T>A rs187092318 0.00530
NM_052989.3(IFT122):c.1239G>A (p.Glu413=) rs111717774 0.00480
NM_052989.3(IFT122):c.2349C>A (p.Ile783=) rs114357746 0.00442
NM_052989.3(IFT122):c.1993-8C>T rs531091599 0.00439
NM_052989.3(IFT122):c.1113C>T (p.Asp371=) rs139319087 0.00429
NM_016277.5(RAB23):c.-23C>T rs145059995 0.00424
NM_000141.5(FGFR2):c.159G>A (p.Ala53=) rs1047102 0.00414
NM_023110.3(FGFR1):c.*2188T>C rs146463691 0.00411
NM_000141.5(FGFR2):c.*324A>G rs150519853 0.00402
NM_023110.3(FGFR1):c.-286C>T rs4647909 0.00398
NM_023110.3(FGFR1):c.*569C>T rs17182470 0.00392
NM_002449.5(MSX2):c.*1007T>A rs74292295 0.00387
NM_002449.5(MSX2):c.*257T>C rs187794452 0.00385
NM_001395413.1(POR):c.508-14_508-13del rs72557912 0.00363
NM_000141.5(FGFR2):c.*184C>T rs4647917 0.00359
NM_000141.5(FGFR2):c.-358C>T rs41301545 0.00345
NM_052989.3(IFT122):c.1908T>C (p.Ile636=) rs139722192 0.00334
NM_002449.5(MSX2):c.*723A>C rs115604243 0.00315
NM_023110.3(FGFR1):c.-209G>C rs572216432 0.00306
NM_052989.3(IFT122):c.321A>G (p.Gln107=) rs138793724 0.00299
NM_000141.5(FGFR2):c.1572A>G (p.Thr524=) rs74160613 0.00298
NM_000141.5(FGFR2):c.-74G>A rs4647922 0.00294
NM_020779.4(WDR35):c.*813A>T rs148210550 0.00290
NM_020779.4(WDR35):c.2262C>T (p.Asp754=) rs147206032 0.00285
NM_052989.3(IFT122):c.3432C>T (p.Ile1144=) rs149884307 0.00277
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser) rs187546086 0.00275
NM_023110.3(FGFR1):c.*994T>C rs17176081 0.00273
NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu) rs56226109 0.00271
NM_020779.4(WDR35):c.2964+12C>T rs113663112 0.00252
NM_025132.4(WDR19):c.-15G>T rs150860929 0.00252
NM_000141.5(FGFR2):c.17G>C (p.Arg6Pro) rs3750819 0.00250
NM_023110.3(FGFR1):c.*906A>T rs139347382 0.00249
NM_025132.4(WDR19):c.3183+9G>A rs138318063 0.00248
NM_025132.4(WDR19):c.2142+12G>A rs149621476 0.00246
NM_000141.5(FGFR2):c.1539C>T (p.Thr513=) rs74160617 0.00234
NM_020779.4(WDR35):c.1591C>G (p.Leu531Val) rs148242353 0.00233
NM_020779.4(WDR35):c.355C>T (p.Arg119Cys) rs140308808 0.00221
NM_023110.3(FGFR1):c.*723G>C rs17182477 0.00220
NM_002449.5(MSX2):c.*1249T>C rs139249455 0.00219
NM_023110.3(FGFR1):c.*1026T>C rs542417198 0.00214
NM_016277.5(RAB23):c.*544G>A rs138311113 0.00213
NM_052989.3(IFT122):c.2294A>C (p.Lys765Thr) rs146026277 0.00212
NM_052989.3(IFT122):c.3129C>T (p.Arg1043=) rs76881473 0.00206
NM_020779.4(WDR35):c.1524+11C>A rs200213874 0.00201
NM_020779.4(WDR35):c.3121+3G>A rs200042577 0.00199
NM_004282.4(BAG2):c.*4565A>G rs11969200 0.00198
NM_020779.4(WDR35):c.*3225G>A rs189820516 0.00198
NM_020779.4(WDR35):c.*3235C>A rs186978842 0.00198
NM_000141.5(FGFR2):c.-46G>A rs201606812 0.00193
NM_020779.4(WDR35):c.2566G>T (p.Val856Phe) rs149667250 0.00188
NM_000141.5(FGFR2):c.2001C>G (p.Val667=) rs61731218 0.00187
NM_000141.5(FGFR2):c.1673-12C>T rs41293763 0.00186
NM_023110.3(FGFR1):c.*1439T>C rs11990198 0.00186
NM_052989.3(IFT122):c.617T>C (p.Ile206Thr) rs59912693 0.00184
NM_020779.4(WDR35):c.*997T>C rs536197643 0.00183
NM_020779.4(WDR35):c.2066G>A (p.Arg689His) rs74470618 0.00168
NM_025132.4(WDR19):c.2361C>T (p.Phe787=) rs200133722 0.00165
NM_000141.5(FGFR2):c.*111G>A rs574474794 0.00164
NM_020779.4(WDR35):c.*1582C>T rs757203175 0.00162
NM_020779.4(WDR35):c.3279G>C (p.Gln1093His) rs148436608 0.00161
NM_000141.5(FGFR2):c.*1301C>T rs71640261 0.00159
NM_020779.4(WDR35):c.*1681A>G rs188310451 0.00158
NM_000141.5(FGFR2):c.454+14C>T rs112142377 0.00152
NM_025132.4(WDR19):c.3667C>T (p.Arg1223Cys) rs201597047 0.00150
NM_002449.5(MSX2):c.*366T>G rs193163747 0.00146
NM_020779.4(WDR35):c.*601A>G rs182037850 0.00146
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met) rs144701688 0.00145
NM_020779.4(WDR35):c.*2160T>C rs192966128 0.00144
NM_023110.3(FGFR1):c.*1498C>T rs17182484 0.00141
NM_002449.5(MSX2):c.*1189G>A rs146501739 0.00137
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr) rs143343508 0.00135
NM_000141.5(FGFR2):c.939+11T>C rs145303463 0.00134
NM_002449.5(MSX2):c.*1050T>C rs184931219 0.00133
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) rs150550701 0.00133
NM_000141.5(FGFR2):c.-61G>T rs3135721 0.00130
NM_023110.3(FGFR1):c.-578A>C rs558180061 0.00124
NM_020779.4(WDR35):c.*2623T>C rs538967974 0.00121
NM_020779.4(WDR35):c.*2622A>G rs558837510 0.00116
NM_023110.3(FGFR1):c.449-9C>G rs17182303 0.00115
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser) rs147307031 0.00107
NM_023110.3(FGFR1):c.-124G>A rs17182079 0.00103
NM_052989.3(IFT122):c.2433C>T (p.Cys811=) rs141626835 0.00103
NM_002449.5(MSX2):c.*635G>A rs192627117 0.00101
NM_025132.4(WDR19):c.2386G>A (p.Ala796Thr) rs187332731 0.00101
NM_023110.3(FGFR1):c.*2104del rs201364530 0.00099
NM_020779.4(WDR35):c.*1006G>A rs80292673 0.00098
NM_020779.4(WDR35):c.*1668A>C rs191316348 0.00098
NM_020779.4(WDR35):c.437-13T>C rs367802842 0.00098
NM_020779.4(WDR35):c.770T>C (p.Val257Ala) rs142955097 0.00095
NM_052989.3(IFT122):c.825G>T (p.Lys275Asn) rs117517364 0.00095
NM_020779.4(WDR35):c.507A>G (p.Lys169=) rs200495720 0.00094
NM_004282.4(BAG2):c.*4263C>T rs549684091 0.00093
NM_004282.4(BAG2):c.*5594A>G rs375855440 0.00093
NM_020779.4(WDR35):c.2678T>C (p.Leu893Ser) rs151047156 0.00093
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val) rs144493712 0.00089
NM_004282.4(BAG2):c.*3082A>G rs139222657 0.00086
NM_052989.3(IFT122):c.41+15G>T rs36222038 0.00084
NM_023110.3(FGFR1):c.*1446A>C rs578094209 0.00081
NM_004282.4(BAG2):c.*3685C>T rs547766165 0.00079
NM_025132.4(WDR19):c.1198C>T (p.Leu400=) rs199765304 0.00079
NM_023110.3(FGFR1):c.-338T>G rs527518565 0.00077
NM_052989.3(IFT122):c.214T>G (p.Ser72Ala) rs144140226 0.00077
NM_004282.4(BAG2):c.*5549A>G rs143345846 0.00076
NM_052989.3(IFT122):c.1026C>T (p.Asp342=) rs79187669 0.00075
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe) rs200059077 0.00073
NM_023110.3(FGFR1):c.*1770G>A rs183394116 0.00072
NM_020779.4(WDR35):c.*2620G>A rs545271105 0.00068
NM_020779.4(WDR35):c.*2797G>A rs528776835 0.00066
NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg) rs75621037 0.00065
NM_020779.4(WDR35):c.*2619C>T rs565144558 0.00064
NM_023110.2(FGFR1):c.-853G>C rs553799602 0.00064
NM_025132.4(WDR19):c.2608G>A (p.Asp870Asn) rs201963605 0.00064
NM_023110.3(FGFR1):c.2361G>A (p.Thr787=) rs200408837 0.00058
NM_052989.3(IFT122):c.3487T>A (p.Phe1163Ile) rs200606803 0.00057
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala) rs150440590 0.00056
NM_020779.4(WDR35):c.*487C>T rs116951767 0.00056
NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly) rs201354264 0.00056
NM_025132.4(WDR19):c.3918-6A>C rs199546190 0.00053
NM_023110.3(FGFR1):c.-717C>T rs772480875 0.00052
NM_020779.4(WDR35):c.1072G>A (p.Val358Ile) rs151227688 0.00051
NM_023110.3(FGFR1):c.*203G>A rs750732571 0.00051
NM_025132.4(WDR19):c.490G>A (p.Val164Ile) rs199514431 0.00051
NM_002449.5(MSX2):c.*363A>G rs376258231 0.00049
NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile) rs200776757 0.00047
NM_002449.5(MSX2):c.*1064A>G rs189444818 0.00045
NM_020779.4(WDR35):c.1051C>G (p.Pro351Ala) rs140753861 0.00045
NM_020779.4(WDR35):c.3026C>G (p.Thr1009Arg) rs201153804 0.00045
NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu) rs140382957 0.00043
NM_025132.4(WDR19):c.*106T>G rs147600266 0.00043
NM_023110.3(FGFR1):c.2278T>C (p.Leu760=) rs201490643 0.00041
NM_025132.4(WDR19):c.13+15G>A rs150633358 0.00041
NM_000141.5(FGFR2):c.2190C>T (p.Asn730=) rs55637244 0.00040
NM_023110.3(FGFR1):c.1553-13G>A rs17182414 0.00040
NM_025132.4(WDR19):c.*152G>A rs533059483 0.00039
NM_052989.3(IFT122):c.1576C>T (p.Arg526Cys) rs149578956 0.00039
NM_023110.3(FGFR1):c.*1211G>T rs185104092 0.00038
NM_023110.3(FGFR1):c.*391C>T rs764328455 0.00038
NM_052989.3(IFT122):c.829C>T (p.Arg277Trp) rs61744448 0.00038
NM_020779.4(WDR35):c.*763T>C rs560228088 0.00036
NM_023110.3(FGFR1):c.*113G>A rs180885042 0.00036
NM_023110.3(FGFR1):c.*1055C>T rs761124911 0.00035
NM_004282.4(BAG2):c.*5287C>T rs148372304 0.00034
NM_025132.4(WDR19):c.3249T>C (p.Asp1083=) rs371128500 0.00034
NM_052989.3(IFT122):c.1553G>A (p.Arg518His) rs138223055 0.00034
NM_000141.5(FGFR2):c.-135C>T rs554557891 0.00033
NM_023110.3(FGFR1):c.1431-5G>A rs201773631 0.00033
NM_025132.4(WDR19):c.2364-15_2364-14del rs555557314 0.00033
NM_002449.5(MSX2):c.*1096A>G rs530984915 0.00032
NM_052989.3(IFT122):c.2643C>T (p.Ala881=) rs150055466 0.00032
NM_020779.4(WDR35):c.*1253C>G rs368665906 0.00031
NM_020779.4(WDR35):c.2965-4G>T rs199696980 0.00031
NM_023110.3(FGFR1):c.*1822A>C rs570038633 0.00031
NM_023110.3(FGFR1):c.*2057C>T rs556829066 0.00031
NM_025132.4(WDR19):c.2239A>G (p.Ile747Val) rs144335584 0.00031
NM_002449.5(MSX2):c.*183G>T rs771167296 0.00030
NM_020779.4(WDR35):c.*795C>T rs190700326 0.00030
NM_020779.4(WDR35):c.2964+10C>A rs201207790 0.00030
NM_025132.4(WDR19):c.929A>G (p.Tyr310Cys) rs199783864 0.00030
NM_000141.5(FGFR2):c.*674G>T rs566155088 0.00029
NM_000141.5(FGFR2):c.-165G>A rs886046766 0.00029
NM_004282.4(BAG2):c.*3238G>A rs749068215 0.00029
NM_023110.3(FGFR1):c.2464C>T (p.Arg822Cys) rs17182463 0.00029
NM_025132.4(WDR19):c.1566C>T (p.Pro522=) rs200692490 0.00029
NM_000141.5(FGFR2):c.*921G>A rs185617859 0.00027
NM_001006657.2(WDR35):c.1226C>T (p.Thr409Met) rs143430766 0.00027
NM_020779.4(WDR35):c.*1413C>T rs567295822 0.00027
NM_023110.3(FGFR1):c.359-4A>G rs185233212 0.00027
NM_002449.5(MSX2):c.*601C>T rs886060430 0.00026
NM_020779.4(WDR35):c.*807T>C rs555257043 0.00026
NM_000141.5(FGFR2):c.1085-13A>T rs41295573 0.00024
NM_023110.3(FGFR1):c.*2391A>G rs185729862 0.00024
NM_025132.4(WDR19):c.3484-15T>C rs376870184 0.00024
NM_052989.3(IFT122):c.3533G>A (p.Arg1178His) rs149029829 0.00024
NM_023110.3(FGFR1):c.-263G>C rs974672416 0.00023
NM_002449.5(MSX2):c.*1178C>T rs182072112 0.00021
NM_020779.4(WDR35):c.*1370G>A rs1039776865 0.00021
NM_023110.3(FGFR1):c.*1711G>A rs567642271 0.00021
NM_023110.3(FGFR1):c.-270G>A rs578030717 0.00021
NM_023110.3(FGFR1):c.-741A>G rs971464879 0.00021
NM_023110.3(FGFR1):c.168G>A (p.Arg56=) rs147482922 0.00021
NM_052989.3(IFT122):c.1533G>A (p.Leu511=) rs183614690 0.00021
NM_000141.5(FGFR2):c.-173G>A rs540975865 0.00019
NM_002449.5(MSX2):c.*1233T>C rs989259719 0.00019
NM_020779.4(WDR35):c.2065C>T (p.Arg689Cys) rs140196566 0.00019
NM_025132.4(WDR19):c.1595T>C (p.Ile532Thr) rs749672769 0.00019
NM_025132.4(WDR19):c.3016A>G (p.Thr1006Ala) rs199678654 0.00019
NM_002449.5(MSX2):c.*306G>T rs886060428 0.00017
NM_002449.5(MSX2):c.*647C>T rs751312423 0.00016
NM_004282.4(BAG2):c.*3590C>T rs773395495 0.00016
NM_004282.4(BAG2):c.*4737A>C rs778774458 0.00016
NM_004282.4(BAG2):c.*5140G>C rs541307925 0.00016
NM_005816.5(CD96):c.*172G>T rs886057770 0.00016
NM_020779.4(WDR35):c.*1062G>A rs778834686 0.00016
NM_023110.3(FGFR1):c.*345T>A rs751699851 0.00016
NM_023110.3(FGFR1):c.304G>A (p.Val102Ile) rs55642501 0.00016
NM_052989.3(IFT122):c.1009-14C>T rs202155515 0.00016
NM_020779.4(WDR35):c.2999A>T (p.Glu1000Val) rs370951527 0.00015
NM_023110.3(FGFR1):c.*963C>T rs567128409 0.00015
NM_023110.3(FGFR1):c.1082-13C>T rs185831613 0.00015
NM_000141.5(FGFR2):c.-622G>A rs886046768 0.00014
NM_004282.4(BAG2):c.*3518C>T rs896219710 0.00014
NM_023110.3(FGFR1):c.1386G>A (p.Glu462=) rs375796487 0.00014
NM_052989.3(IFT122):c.2577G>A (p.Glu859=) rs201077232 0.00014
NM_002449.5(MSX2):c.*144C>T rs530005338 0.00013
NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys) rs75602337 0.00013
NM_020779.4(WDR35):c.765C>T (p.Tyr255=) rs117255034 0.00013
NM_025132.4(WDR19):c.1134+13T>G rs374615138 0.00013
NM_025132.4(WDR19):c.2329A>G (p.Ile777Val) rs373737104 0.00013
NM_025132.4(WDR19):c.3483+5G>A rs201216969 0.00013
NM_000141.5(FGFR2):c.1774C>T (p.Arg592Cys) rs141929882 0.00012
NM_000141.5(FGFR2):c.625-10A>G rs201512833 0.00011
NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) rs199757302 0.00011
NM_001006657.2(WDR35):c.1215A>G (p.Thr405=) rs144673252 0.00011
NM_002449.5(MSX2):c.*1312A>G rs886060434 0.00011
NM_004282.4(BAG2):c.*3142C>G rs562371430 0.00011
NM_004282.4(BAG2):c.*3395A>G rs561133735 0.00011
NM_004282.4(BAG2):c.*3502G>T rs550035886 0.00011
NM_004282.4(BAG2):c.*5351G>C rs530900959 0.00011
NM_020779.4(WDR35):c.*2618G>A rs563586298 0.00011
NM_025132.4(WDR19):c.1249+9A>G rs201377206 0.00011
NM_025132.4(WDR19):c.3027C>T (p.Asp1009=) rs181975379 0.00011
NM_025132.4(WDR19):c.3683C>G (p.Ala1228Gly) rs201051877 0.00011
NM_025132.4(WDR19):c.6+5A>G rs201198839 0.00011
NM_025132.4(WDR19):c.689A>C (p.Asp230Ala) rs202232525 0.00011
NM_052989.3(IFT122):c.3131C>T (p.Ala1044Val) rs147341636 0.00011
NM_000141.5(FGFR2):c.-237C>A rs1013618217 0.00010
NM_023110.3(FGFR1):c.*14G>A rs371776128 0.00010
NM_023110.3(FGFR1):c.*2407C>T rs758524862 0.00010
NM_023110.3(FGFR1):c.75G>A (p.Pro25=) rs17175757 0.00010
NM_025132.4(WDR19):c.1064A>T (p.Asp355Val) rs192495145 0.00010
NM_025132.4(WDR19):c.1775A>G (p.Gln592Arg) rs190192706 0.00010
NM_000141.5(FGFR2):c.33C>T (p.Val11=) rs200562301 0.00009
NM_020779.4(WDR35):c.*2559A>G rs751743368 0.00009
NM_020779.4(WDR35):c.*2887T>C rs749198501 0.00009
NM_020779.4(WDR35):c.*712A>T rs572859023 0.00009
NM_023110.3(FGFR1):c.*957C>T rs941835357 0.00009
NM_023110.3(FGFR1):c.273C>T (p.Ser91=) rs201823433 0.00009
NM_023110.3(FGFR1):c.375G>A (p.Ser125=) rs17182296 0.00009
NM_023110.3(FGFR1):c.415A>G (p.Lys139Glu) rs201054877 0.00009
NM_025132.4(WDR19):c.2364-15T>C rs771036360 0.00009
NM_052989.3(IFT122):c.3570G>T (p.Leu1190=) rs146778076 0.00009
NM_052989.3(IFT122):c.3698G>A (p.Arg1233His) rs201755623 0.00009
NM_052989.3(IFT122):c.565C>T (p.Arg189Ter) rs138329739 0.00009
NM_002449.5(MSX2):c.699G>A (p.Ala233=) rs201880865 0.00008
NM_020779.4(WDR35):c.*563T>G rs561642193 0.00008
NM_020779.4(WDR35):c.66G>T (p.Trp22Cys) rs201860485 0.00008
NM_025132.4(WDR19):c.1357-7G>A rs377101599 0.00008
NM_025132.4(WDR19):c.3436G>A (p.Glu1146Lys) rs779635441 0.00008
NM_052989.3(IFT122):c.-3G>A rs367704478 0.00008
NM_052989.3(IFT122):c.2600C>T (p.Pro867Leu) rs147499719 0.00008
NM_052989.3(IFT122):c.2721G>A (p.Ala907=) rs371570973 0.00008
NM_052989.3(IFT122):c.938G>A (p.Arg313Gln) rs376018883 0.00008
NM_020779.4(WDR35):c.*1146T>C rs1036362475 0.00007
NM_020779.4(WDR35):c.*1207C>G rs1466981368 0.00007
NM_020779.4(WDR35):c.3460C>G (p.Gln1154Glu) rs774768083 0.00007
NM_023110.3(FGFR1):c.*2434C>T rs565758830 0.00007
NM_023110.3(FGFR1):c.-320C>T rs1356662413 0.00007
NM_023110.3(FGFR1):c.2399C>T (p.Pro800Leu) rs377620009 0.00007
NM_023110.3(FGFR1):c.359-13C>G rs376369060 0.00007
NM_025132.4(WDR19):c.1839A>G (p.Leu613=) rs201320006 0.00007
NM_025132.4(WDR19):c.479A>G (p.Lys160Arg) rs756321262 0.00007
NM_000141.5(FGFR2):c.-371C>T rs527570655 0.00006
NM_000141.5(FGFR2):c.1548G>A (p.Val516=) rs200522893 0.00006
NM_000141.5(FGFR2):c.201C>T (p.Ala67=) rs200386134 0.00006
NM_002449.5(MSX2):c.*106C>T rs747163618 0.00006
NM_002449.5(MSX2):c.*1206T>C rs77229212 0.00006
NM_002449.5(MSX2):c.*465C>T rs554165494 0.00006
NM_002449.5(MSX2):c.*526T>C rs532200136 0.00006
NM_002449.5(MSX2):c.*863A>G rs886060431 0.00006
NM_002449.5(MSX2):c.286G>T (p.Val96Leu) rs769329948 0.00006
NM_004282.4(BAG2):c.*4604_*4606dup rs886061651 0.00006
NM_005816.5(CD96):c.*844A>G rs886057776 0.00006
NM_020779.4(WDR35):c.1250A>T (p.Asp417Val) rs371757004 0.00006
NM_020779.4(WDR35):c.1376G>A (p.Arg459Gln) rs146380332 0.00006
NM_020779.4(WDR35):c.2137G>A (p.Asp713Asn) rs778732776 0.00006
NM_020779.4(WDR35):c.3193T>A (p.Cys1065Ser) rs200258619 0.00006
NM_023110.3(FGFR1):c.-555G>A rs901616183 0.00006
NM_025132.4(WDR19):c.1639G>A (p.Ala547Thr) rs754631759 0.00006
NM_025132.4(WDR19):c.3362A>G (p.Asn1121Ser) rs545916111 0.00006
NM_052989.3(IFT122):c.1150C>T (p.Arg384Trp) rs139079256 0.00006
NM_052989.3(IFT122):c.1758C>G (p.His586Gln) rs141889207 0.00006
NM_052989.3(IFT122):c.1940G>A (p.Arg647His) rs750301228 0.00006
NM_052989.3(IFT122):c.3128G>A (p.Arg1043His) rs576743578 0.00006
NM_052989.3(IFT122):c.3232C>T (p.Arg1078Cys) rs771499492 0.00006
NM_052989.3(IFT122):c.475C>T (p.Arg159Trp) rs140547512 0.00006
NM_000141.5(FGFR2):c.*736dup rs886046762 0.00005
NM_000141.5(FGFR2):c.780C>T (p.Ala260=) rs778288494 0.00005
NM_002449.5(MSX2):c.*46G>T rs375964205 0.00005
NM_016277.5(RAB23):c.123C>T (p.Thr41=) rs759408401 0.00005
NM_020779.4(WDR35):c.*1957C>T rs947201612 0.00005
NM_020779.4(WDR35):c.215-4C>G rs369080910 0.00005
NM_020779.4(WDR35):c.2515A>G (p.Ile839Val) rs763618858 0.00005
NM_020779.4(WDR35):c.2836G>A (p.Glu946Lys) rs779009587 0.00005
NM_025132.4(WDR19):c.1173C>T (p.Asn391=) rs777985189 0.00005
NM_052989.3(IFT122):c.228C>T (p.Ser76=) rs772835552 0.00005
NM_052989.3(IFT122):c.54C>T (p.Ile18=) rs139138308 0.00005
NM_052989.3(IFT122):c.876C>T (p.Gly292=) rs768782991 0.00005
NM_000141.5(FGFR2):c.*874A>G rs55723405 0.00004
NM_000141.5(FGFR2):c.-535G>C rs886046767 0.00004
NM_000141.5(FGFR2):c.2415C>T (p.Tyr805=) rs558460047 0.00004
NM_002449.5(MSX2):c.*102C>T rs886060426 0.00004
NM_004282.4(BAG2):c.*3930G>T rs571856902 0.00004
NM_004282.4(BAG2):c.*4204T>C rs191147024 0.00004
NM_016277.5(RAB23):c.*618A>G rs886061653 0.00004
NM_016277.5(RAB23):c.*81G>T rs1304531152 0.00004
NM_016277.5(RAB23):c.54A>G (p.Gly18=) rs767442221 0.00004
NM_016277.5(RAB23):c.616T>A (p.Ser206Thr) rs202181599 0.00004
NM_016277.5(RAB23):c.670A>T (p.Thr224Ser) rs748638791 0.00004
NM_020779.4(WDR35):c.*1219G>A rs1003005484 0.00004
NM_020779.4(WDR35):c.*2989C>T rs886055392 0.00004
NM_020779.4(WDR35):c.*3269G>A rs886055391 0.00004
NM_020779.4(WDR35):c.1029T>C (p.Thr343=) rs536150588 0.00004
NM_020779.4(WDR35):c.1053T>C (p.Pro351=) rs74385826 0.00004
NM_020779.4(WDR35):c.1697C>T (p.Thr566Met) rs780159239 0.00004
NM_020779.4(WDR35):c.3136G>C (p.Asp1046His) rs200760434 0.00004
NM_020779.4(WDR35):c.798C>T (p.Ser266=) rs141118263 0.00004
NM_020779.4(WDR35):c.958C>A (p.Leu320Ile) rs573430534 0.00004
NM_023110.2(FGFR1):c.-747C>G rs917928821 0.00004
NM_023110.3(FGFR1):c.*252G>A rs781117513 0.00004
NM_023110.3(FGFR1):c.2293-11G>A rs886062919 0.00004
NM_023110.3(FGFR1):c.741C>T (p.Val247=) rs745325958 0.00004
NM_023110.3(FGFR1):c.742G>A (p.Val248Met) rs186746130 0.00004
NM_025132.4(WDR19):c.1390C>T (p.Arg464Cys) rs201148758 0.00004
NM_025132.4(WDR19):c.2577G>A (p.Ala859=) rs753596825 0.00004
NM_052985.3(IFT122):c.-145T>A rs923805618 0.00004
NM_052989.3(IFT122):c.1294A>G (p.Lys432Glu) rs781181264 0.00004
NM_052989.3(IFT122):c.2681C>T (p.Ala894Val) rs376549217 0.00004
NM_052989.3(IFT122):c.273-260T>C rs369997431 0.00004
NM_052989.3(IFT122):c.3056A>G (p.Tyr1019Cys) rs553449191 0.00004
NM_052989.3(IFT122):c.3194C>T (p.Pro1065Leu) rs368574590 0.00004
NM_052989.3(IFT122):c.752A>G (p.Asn251Ser) rs754782458 0.00004
NM_000141.5(FGFR2):c.*1126T>C rs370106008 0.00003
NM_000141.5(FGFR2):c.*1489C>T rs886046757 0.00003
NM_000141.5(FGFR2):c.*463A>G rs373313930 0.00003
NM_000141.5(FGFR2):c.*730G>C rs549293047 0.00003
NM_000141.5(FGFR2):c.-206C>A rs1238787517 0.00003
NM_000141.5(FGFR2):c.772C>T (p.Leu258Phe) rs747171741 0.00003
NM_001395413.1(POR):c.821+2dup rs886062440 0.00003
NM_002449.5(MSX2):c.-42C>T rs758437365 0.00003
NM_002449.5(MSX2):c.751C>T (p.Pro251Ser) rs776218196 0.00003
NM_005816.5(CD96):c.*1364G>A rs368097665 0.00003
NM_016277.5(RAB23):c.-49C>T rs45474592 0.00003
NM_020779.4(WDR35):c.*1038C>G rs145549829 0.00003
NM_020779.4(WDR35):c.*1218C>T rs990547735 0.00003
NM_020779.4(WDR35):c.*1821A>G rs978221263 0.00003
NM_020779.4(WDR35):c.1260A>G (p.Pro420=) rs573958749 0.00003
NM_020779.4(WDR35):c.1636C>T (p.Arg546Cys) rs549077153 0.00003
NM_020779.4(WDR35):c.2984G>T (p.Gly995Val) rs376284452 0.00003
NM_020779.4(WDR35):c.766G>A (p.Val256Ile) rs745580829 0.00003
NM_023110.3(FGFR1):c.*1286C>T rs886062909 0.00003
NM_023110.3(FGFR1):c.*1560C>T rs761096092 0.00003
NM_023110.3(FGFR1):c.*1965G>A rs886062907 0.00003
NM_023110.3(FGFR1):c.*2408C>T rs1004230937 0.00003
NM_023110.3(FGFR1):c.*262C>T rs915960243 0.00003
NM_023110.3(FGFR1):c.*70C>T rs886062918 0.00003
NM_023110.3(FGFR1):c.*762A>G rs886062914 0.00003
NM_023110.3(FGFR1):c.*802C>T rs938792635 0.00003
NM_023110.3(FGFR1):c.*991G>A rs866647792 0.00003
NM_023110.3(FGFR1):c.449-7C>T rs754454127 0.00003
NM_025132.4(WDR19):c.*131C>T rs886059404 0.00003
NM_025132.4(WDR19):c.2087G>A (p.Arg696His) rs747881116 0.00003
NM_025132.4(WDR19):c.3283T>C (p.Leu1095=) rs769329045 0.00003
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu) rs576113399 0.00003
NM_025132.4(WDR19):c.523-3T>C rs747603843 0.00003
NM_025132.4(WDR19):c.778C>T (p.His260Tyr) rs754678482 0.00003
NM_052989.3(IFT122):c.*16C>T rs763993447 0.00003
NM_052989.3(IFT122):c.2389G>A (p.Ala797Thr) rs376362722 0.00003
NM_052989.3(IFT122):c.2840G>A (p.Arg947His) rs760810819 0.00003
NM_052989.3(IFT122):c.783G>A (p.Gln261=) rs144727222 0.00003
NM_000141.4(FGFR2):c.*1539C>A rs1194799333 0.00002
NM_000141.5(FGFR2):c.879C>T (p.His293=) rs55745510 0.00002
NM_002449.5(MSX2):c.*126T>C rs1242791605 0.00002
NM_020779.4(WDR35):c.*297A>G rs886891593 0.00002
NM_020779.4(WDR35):c.*305T>C rs1404107870 0.00002
NM_020779.4(WDR35):c.2107A>G (p.Thr703Ala) rs886055405 0.00002
NM_023110.3(FGFR1):c.*913G>A rs886062912 0.00002
NM_023110.3(FGFR1):c.2465G>A (p.Arg822His) rs758677681 0.00002
NM_023110.3(FGFR1):c.549C>T (p.Thr183=) rs886062920 0.00002
NM_025132.4(WDR19):c.*296T>G rs542204770 0.00002
NM_025132.4(WDR19):c.128G>A (p.Arg43His) rs770312522 0.00002
NM_025132.4(WDR19):c.13+14C>T rs758352852 0.00002
NM_025132.4(WDR19):c.3042C>T (p.Ala1014=) rs761990492 0.00002
NM_025132.4(WDR19):c.3483+11T>C rs766475725 0.00002
NM_025132.4(WDR19):c.822T>C (p.His274=) rs750215526 0.00002
NM_052989.3(IFT122):c.2393G>A (p.Arg798His) rs755677495 0.00002
NM_052989.3(IFT122):c.2629C>T (p.Arg877Cys) rs773080594 0.00002
NM_052989.3(IFT122):c.3154-9G>A rs759975764 0.00002
NM_052989.3(IFT122):c.3252C>T (p.Ser1084=) rs775568842 0.00002
NM_000141.5(FGFR2):c.*1369C>T rs886046759 0.00001
NM_000141.5(FGFR2):c.*497T>C rs3135827 0.00001
NM_000141.5(FGFR2):c.-128G>A rs547739869 0.00001
NM_000141.5(FGFR2):c.-129C>T rs886046765 0.00001
NM_000141.5(FGFR2):c.-196G>A rs1457119353 0.00001
NM_000141.5(FGFR2):c.1167C>G (p.Ala389=) rs757648006 0.00001
NM_000141.5(FGFR2):c.1213A>G (p.Lys405Glu) rs772986332 0.00001
NM_000141.5(FGFR2):c.1239G>A (p.Pro413=) rs147674677 0.00001
NM_000141.5(FGFR2):c.1562-11A>G rs41293744 0.00001
NM_000141.5(FGFR2):c.1562A>G (p.Asp521Gly) rs55689343 0.00001
NM_000141.5(FGFR2):c.204C>T (p.Ala68=) rs747982371 0.00001
NM_001102564.3(IFT43):c.214_215+2del rs777112610 0.00001
NM_002449.5(MSX2):c.*644C>T rs970685736 0.00001
NM_002449.5(MSX2):c.315G>C (p.Lys105Asn) rs760574628 0.00001
NM_002449.5(MSX2):c.635C>G (p.Ala212Gly) rs775062909 0.00001
NM_004282.4(BAG2):c.*3952A>G rs1159890588 0.00001
NM_004282.4(BAG2):c.*4026A>G rs908169983 0.00001
NM_004282.4(BAG2):c.*5476C>T rs1387081917 0.00001
NM_005816.5(CD96):c.*869G>C rs566078679 0.00001
NM_016277.5(RAB23):c.*145T>C rs189570356 0.00001
NM_016277.5(RAB23):c.218C>T (p.Ala73Val) rs556931606 0.00001
NM_016277.5(RAB23):c.239G>A (p.Arg80Gln) rs145669565 0.00001
NM_016277.5(RAB23):c.398+9G>A rs376839366 0.00001
NM_016277.5(RAB23):c.664C>G (p.Gln222Glu) rs756536052 0.00001
NM_016277.5(RAB23):c.714A>G (p.Ter238=) rs142290596 0.00001
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) rs765443042 0.00001
NM_016277.5(RAB23):c.93A>G (p.Lys31=) rs201735614 0.00001
NM_020779.4(WDR35):c.*2228C>T rs1669828408 0.00001
NM_020779.4(WDR35):c.*2288C>T rs886055398 0.00001
NM_020779.4(WDR35):c.*2725G>T rs886055396 0.00001
NM_020779.4(WDR35):c.*2726A>G rs886055395 0.00001
NM_020779.4(WDR35):c.*2748G>T rs886055394 0.00001
NM_020779.4(WDR35):c.*380G>A rs886055401 0.00001
NM_020779.4(WDR35):c.*747C>T rs1451842817 0.00001
NM_020779.4(WDR35):c.1348A>C (p.Thr450Pro) rs771656961 0.00001
NM_020779.4(WDR35):c.1871T>G (p.Ile624Ser) rs139252416 0.00001
NM_020779.4(WDR35):c.2165G>A (p.Arg722His) rs758991146 0.00001
NM_020779.4(WDR35):c.2194A>C (p.Lys732Gln) rs748476979 0.00001
NM_020779.4(WDR35):c.2220C>T (p.Phe740=) rs535522970 0.00001
NM_020779.4(WDR35):c.2267+9T>C rs376307803 0.00001
NM_020779.4(WDR35):c.2268-11T>G rs745664606 0.00001
NM_020779.4(WDR35):c.2298G>A (p.Leu766=) rs1287745296 0.00001
NM_020779.4(WDR35):c.847G>A (p.Val283Met) rs576085633 0.00001
NM_020779.4(WDR35):c.976A>G (p.Ile326Val) rs1438742194 0.00001
NM_023110.2(FGFR1):c.-755C>G rs1225240095 0.00001
NM_023110.2(FGFR1):c.-849C>A rs1050158070 0.00001
NM_023110.3(FGFR1):c.*1086A>T rs1287148499 0.00001
NM_023110.3(FGFR1):c.*112C>T rs1189535138 0.00001
NM_023110.3(FGFR1):c.*1149G>A rs923197183 0.00001
NM_023110.3(FGFR1):c.*2445A>G rs1261528641 0.00001
NM_023110.3(FGFR1):c.*928G>A rs1814772534 0.00001
NM_023110.3(FGFR1):c.-444C>T rs1835972353 0.00001
NM_023110.3(FGFR1):c.1430+13T>C rs763815221 0.00001
NM_023110.3(FGFR1):c.1869C>T (p.Asp623=) rs780009859 0.00001
NM_023110.3(FGFR1):c.2187-14C>T rs1390439587 0.00001
NM_023110.3(FGFR1):c.2272G>A (p.Val758Met) rs527606454 0.00001
NM_023110.3(FGFR1):c.2451C>T (p.Gly817=) rs1014179319 0.00001
NM_023110.3(FGFR1):c.274G>A (p.Val92Met) rs755828990 0.00001
NM_023110.3(FGFR1):c.663G>T (p.Val221=) rs766451294 0.00001
NM_023110.3(FGFR1):c.68C>T (p.Pro23Leu) rs143341876 0.00001
NM_023110.3(FGFR1):c.787G>A (p.Ala263Thr) rs747978107 0.00001
NM_023110.3(FGFR1):c.91+6G>T rs886062921 0.00001
NM_025132.4(WDR19):c.1248T>C (p.Asn416=) rs772867899 0.00001
NM_025132.4(WDR19):c.1932G>A (p.Thr644=) rs886059398 0.00001
NM_025132.4(WDR19):c.1960G>A (p.Ala654Thr) rs1024499799 0.00001
NM_025132.4(WDR19):c.3068A>C (p.Tyr1023Ser) rs759424617 0.00001
NM_025132.4(WDR19):c.935T>C (p.Ile312Thr) rs886059396 0.00001
NM_052989.3(IFT122):c.2018G>A (p.Arg673Gln) rs140911243 0.00001
NM_052989.3(IFT122):c.2055G>T (p.Lys685Asn) rs779236550 0.00001
NM_052989.3(IFT122):c.2138A>G (p.Tyr713Cys) rs1332128088 0.00001
NM_052989.3(IFT122):c.3263A>G (p.Tyr1088Cys) rs774343448 0.00001
NM_052989.3(IFT122):c.3268G>A (p.Val1090Met) rs147517019 0.00001
NM_052989.3(IFT122):c.3446C>T (p.Pro1149Leu) rs373326394 0.00001
NM_000141.5(FGFR2):c.*1070T>C rs886046761
NM_000141.5(FGFR2):c.*1240A>C rs1403038230
NM_000141.5(FGFR2):c.*1283C>G rs1844298421
NM_000141.5(FGFR2):c.*1287A>C rs886046760
NM_000141.5(FGFR2):c.*1402T>C rs886046758
NM_000141.5(FGFR2):c.*1498_*1502del rs566259479
NM_000141.5(FGFR2):c.*197del rs748777325
NM_000141.5(FGFR2):c.*256G>A rs763095219
NM_000141.5(FGFR2):c.*641_*644del rs548465887
NM_000141.5(FGFR2):c.-108C>T rs540720034
NM_000141.5(FGFR2):c.-17G>C rs766629665
NM_000141.5(FGFR2):c.-236G>A rs1047111
NM_000141.5(FGFR2):c.-236G>C rs1047111
NM_000141.5(FGFR2):c.-298_-297dup rs41301549
NM_000141.5(FGFR2):c.-590G>C rs1221108798
NM_000141.5(FGFR2):c.-603C>T rs1863754113
NM_000141.5(FGFR2):c.-626C>A rs549524538
NM_000141.5(FGFR2):c.1093A>C (p.Arg365=) rs1849564914
NM_000141.5(FGFR2):c.110-22TC[3] rs773932794
NM_000141.5(FGFR2):c.1179A>T (p.Val393=) rs886046763
NM_000141.5(FGFR2):c.1485G>T (p.Val495=) rs1362401352
NM_000141.5(FGFR2):c.1539C>A (p.Thr513=) rs74160617
NM_000141.5(FGFR2):c.2045A>G (p.His682Arg) rs1845557012
NM_000141.5(FGFR2):c.2416G>A (p.Glu806Lys) rs764959117
NM_000141.5(FGFR2):c.351T>C (p.Thr117=) rs886046764
NM_000141.5(FGFR2):c.625-8C>T rs1853240523
NM_000141.5(FGFR2):c.696A>G (p.Val232=) rs1047100
NM_000141.5(FGFR2):c.714G>A (p.Gly238=) rs1276387170
NM_000141.5(FGFR2):c.91A>T (p.Thr31Ser) rs1863017903
NM_000474.4(TWIST1):c.408del (p.Thr137fs)
NM_001006657.1(WDR35):c.*3299C>T rs1669790644
NM_001395413.1(POR):c.*147CTC[1] rs886062444
NM_002449.5(MSX2):c.*1006dup rs397692104
NM_002449.5(MSX2):c.*1086dup rs145784193
NM_002449.5(MSX2):c.*1161C>T rs1760913049
NM_002449.5(MSX2):c.*157A>T rs17063878
NM_002449.5(MSX2):c.*172G>A rs577291689
NM_002449.5(MSX2):c.*289A>G rs886060427
NM_002449.5(MSX2):c.*512G>T rs1760894878
NM_002449.5(MSX2):c.*516A>G rs1760894980
NM_002449.5(MSX2):c.*530A>G rs886060429
NM_002449.5(MSX2):c.*601C>G rs886060430
NM_002449.5(MSX2):c.*878C>T rs554272174
NM_002449.5(MSX2):c.*946T>G rs886060432
NM_002449.5(MSX2):c.-50C>T rs371076863
NM_002449.5(MSX2):c.-56C>A rs113874536
NM_002449.5(MSX2):c.122A>T (p.Lys41Met) rs1760740243
NM_002449.5(MSX2):c.304G>A (p.Ala102Thr) rs772051040
NM_004282.4(BAG2):c.*2973T>C rs1170431413
NM_004282.4(BAG2):c.*4454T>C rs368441472
NM_004282.4(BAG2):c.*4735A>C rs931746824
NM_004282.4(BAG2):c.*4777T>C rs1764724130
NM_004282.4(BAG2):c.*5084TGAT[3] rs139778770
NM_004282.4(BAG2):c.*5219A>G rs1764744688
NM_004282.4(BAG2):c.*5421T>C rs1764753710
NM_004282.4(BAG2):c.*5536A>C rs886061652
NM_005816.5(CD96):c.*2076del rs886057782
NM_005816.5(CD96):c.*2092_*2093insGAA rs557338377
NM_005816.5(CD96):c.*2092_*2093insGAAAGAA rs557338377
NM_005816.5(CD96):c.*2093_*2097del rs771511889
NM_005816.5(CD96):c.*2093del rs200341777
NM_005816.5(CD96):c.*2094del rs886057786
NM_005816.5(CD96):c.54dup (p.Val19fs) rs200703204
NM_006766.5(KAT6A):c.2135G>A (p.Ser712Asn) rs2150863487
NM_006766.5(KAT6A):c.3824_3828del (p.Glu1275fs)
NM_006766.5(KAT6A):c.4980del (p.Gln1660fs)
NM_006766.5(KAT6A):c.5287A>G (p.Ile1763Val) rs1821630087
NM_016277.5(RAB23):c.*117A>G rs1764790940
NM_016277.5(RAB23):c.*600AATT[1] rs886061654
NM_016277.5(RAB23):c.156-9T>C rs1380069219
NM_016277.5(RAB23):c.223A>T (p.Thr75Ser) rs774195943
NM_016277.5(RAB23):c.242-31ATTG[6] rs45542438
NM_016277.5(RAB23):c.389G>C (p.Cys130Ser) rs1485030118
NM_016277.5(RAB23):c.399-14A>T rs974936952
NM_020779.4(WDR35):c.*1005C>A rs746476400
NM_020779.4(WDR35):c.*1270C>T rs568999408
NM_020779.4(WDR35):c.*1461A>C rs886055400
NM_020779.4(WDR35):c.*1637C>T rs1669848389
NM_020779.4(WDR35):c.*16T>C rs1669898811
NM_020779.4(WDR35):c.*1754C>G rs1188052659
NM_020779.4(WDR35):c.*1934A>G rs886055399
NM_020779.4(WDR35):c.*1960G>T rs1669835588
NM_020779.4(WDR35):c.*2029GTCT[1] rs566446459
NM_020779.4(WDR35):c.*2239G>A rs1042042509
NM_020779.4(WDR35):c.*2341G>C rs886055397
NM_020779.4(WDR35):c.*2629T>A rs1001737898
NM_020779.4(WDR35):c.*271A>G rs994131640
NM_020779.4(WDR35):c.*2962C>T rs886055393
NM_020779.4(WDR35):c.*2990G>T rs781556463
NM_020779.4(WDR35):c.*573A>T rs140069324
NM_020779.4(WDR35):c.*635C>T rs1669878199
NM_020779.4(WDR35):c.*978A>G rs149444449
NM_020779.4(WDR35):c.*998A>G rs530093062
NM_020779.4(WDR35):c.1058G>C (p.Arg353Pro) rs76623454
NM_020779.4(WDR35):c.1231T>G (p.Leu411Val) rs1418266904
NM_020779.4(WDR35):c.1609C>G (p.Gln537Glu) rs1416766008
NM_020779.4(WDR35):c.1753G>A (p.Val585Ile) rs748998292
NM_020779.4(WDR35):c.24+4A>G rs780961583
NM_020779.4(WDR35):c.2400T>C (p.Ala800=) rs886055404
NM_020779.4(WDR35):c.2455G>A (p.Glu819Lys) rs768049606
NM_020779.4(WDR35):c.2492A>G (p.Tyr831Cys) rs886055403
NM_020779.4(WDR35):c.273A>G (p.Glu91=) rs1558360162
NM_020779.4(WDR35):c.2956A>G (p.Ser986Gly) rs886055402
NM_020779.4(WDR35):c.308G>C (p.Gly103Ala) rs886055406
NM_020779.4(WDR35):c.3464A>C (p.Glu1155Ala) rs1669900626
NM_023110.3(FGFR1):c.*1052C>T rs17176088
NM_023110.3(FGFR1):c.*1124C>G rs561923573
NM_023110.3(FGFR1):c.*1144G>A rs886062911
NM_023110.3(FGFR1):c.*118C>T rs886062916
NM_023110.3(FGFR1):c.*1218T>C rs886062910
NM_023110.3(FGFR1):c.*1616T>G rs886062908
NM_023110.3(FGFR1):c.*1676G>A rs763761019
NM_023110.3(FGFR1):c.*1723C>T rs1200256665
NM_023110.3(FGFR1):c.*1823G>A rs1814497706
NM_023110.3(FGFR1):c.*1982A>C rs536000259
NM_023110.3(FGFR1):c.*212G>A rs1815042970
NM_023110.3(FGFR1):c.*231C>T rs1815036929
NM_023110.3(FGFR1):c.*313T>C rs886062915
NM_023110.3(FGFR1):c.*313T>G rs886062915
NM_023110.3(FGFR1):c.*494A>G rs562843836
NM_023110.3(FGFR1):c.*71A>G rs886062917
NM_023110.3(FGFR1):c.*819T>G rs1814814648
NM_023110.3(FGFR1):c.*845T>C rs886062913
NM_023110.3(FGFR1):c.*958G>A rs537880800
NM_023110.3(FGFR1):c.-116C>T rs1835923576
NM_023110.3(FGFR1):c.-117C>G rs994485282
NM_023110.3(FGFR1):c.-278C>A rs1835944475
NM_023110.3(FGFR1):c.-413G>A rs984098100
NM_023110.3(FGFR1):c.-434G>A rs941457992
NM_023110.3(FGFR1):c.-466C>T rs1835975713
NM_023110.3(FGFR1):c.-522G>T rs1208796305
NM_023110.3(FGFR1):c.-552C>G rs1835988153
NM_023110.3(FGFR1):c.1264C>G (p.Pro422Ala) rs1817948350
NM_023110.3(FGFR1):c.1615G>A (p.Gly539Arg) rs201158796
NM_023110.3(FGFR1):c.1713G>A (p.Glu571=) rs1816417552
NM_023110.3(FGFR1):c.2024G>C (p.Arg675Pro) rs771078736
NM_023110.3(FGFR1):c.861C>T (p.Ile287=) rs1370490922
NM_023110.3(FGFR1):c.92-3C>T rs1822349929
NM_025132.3(WDR19):c.-59dup rs558898928
NM_025132.4(WDR19):c.*124T>G rs1737119800
NM_025132.4(WDR19):c.*184T>G rs886059405
NM_025132.4(WDR19):c.*293_*296dup rs374474677
NM_025132.4(WDR19):c.*83G>C rs111976533
NM_025132.4(WDR19):c.1293C>T (p.Ala431=) rs886059397
NM_025132.4(WDR19):c.171T>C (p.Cys57=) rs1483597668
NM_025132.4(WDR19):c.1775A>T (p.Gln592Leu) rs190192706
NM_025132.4(WDR19):c.198A>T (p.Gly66=) rs749815295
NM_025132.4(WDR19):c.2218T>C (p.Tyr740His) rs886059399
NM_025132.4(WDR19):c.2251G>A (p.Glu751Lys) rs1730954326
NM_025132.4(WDR19):c.2429A>G (p.Asp810Gly) rs886059400
NM_025132.4(WDR19):c.2430T>G (p.Asp810Glu) rs1375996391
NM_025132.4(WDR19):c.2782A>T (p.Ile928Phe) rs780963454
NM_025132.4(WDR19):c.2872G>C (p.Ala958Pro) rs1057523257
NM_025132.4(WDR19):c.3358+15C>T rs750722358
NM_025132.4(WDR19):c.3439A>G (p.Met1147Val) rs886059401
NM_025132.4(WDR19):c.3602G>A (p.Cys1201Tyr) rs886059402
NM_025132.4(WDR19):c.3775C>A (p.Leu1259Ile) rs886059403
NM_025132.4(WDR19):c.750A>T (p.Ser250=) rs886059395
NM_052989.3(IFT122):c.*121G>T rs536919948
NM_052989.3(IFT122):c.*142C>G rs977256057
NM_052989.3(IFT122):c.*241C>G rs2084614746
NM_052989.3(IFT122):c.-22C>A rs551140180
NM_052989.3(IFT122):c.132C>G (p.Thr44=) rs371772807
NM_052989.3(IFT122):c.1570G>A (p.Ala524Thr) rs2078655875
NM_052989.3(IFT122):c.1713G>T (p.Ser571=) rs150174636
NM_052989.3(IFT122):c.1800C>T (p.Ser600=) rs886057965
NM_052989.3(IFT122):c.1884A>T (p.Lys628Asn) rs777051654
NM_052989.3(IFT122):c.1993-7G>C rs2285354
NM_052989.3(IFT122):c.199C>A (p.Arg67Ser) rs181971625
NM_052989.3(IFT122):c.2181C>T (p.Thr727=) rs545131069
NM_052989.3(IFT122):c.2304G>A (p.Val768=) rs886057966
NM_052989.3(IFT122):c.2523C>T (p.His841=) rs780586191
NM_052989.3(IFT122):c.2575G>C (p.Glu859Gln) rs2081966365
NM_052989.3(IFT122):c.2798C>A (p.Ala933Asp) rs747843863
NM_052989.3(IFT122):c.2881C>G (p.His961Asp) rs1178500227
NM_052989.3(IFT122):c.3049C>A (p.His1017Asn) rs900548596
NM_052989.3(IFT122):c.3391+6C>T rs2084139065
NM_052989.3(IFT122):c.3404T>C (p.Leu1135Pro) rs1251905610
NM_052989.3(IFT122):c.3636+3A>G rs753825998
NM_052989.3(IFT122):c.3711T>C (p.Asp1237=) rs2084594582
NM_052989.3(IFT122):c.552del (p.Cys183_Trp184insTer) rs781766922

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