ClinVar Miner

List of variants reported as likely benign for dysostosis

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9775
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HGVS dbSNP gnomAD frequency
NM_020436.5(SALL4):c.540T>C (p.Asn180=) rs6013281 0.99661
NM_016277.5(RAB23):c.*1312A>G rs11398 0.15738
NM_016277.5(RAB23):c.*416G>C rs1411578 0.15575
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) rs1040461 0.11850
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_203486.3(DLL3):c.425T>A (p.Leu142Gln) rs55741253 0.06752
NC_000016.10:g.72008736A>G rs34270657 0.06520
NM_003239.5(TGFB3):c.-614C>T rs11466414 0.04715
NM_003722.5(TP63):c.*2636del rs5855278 0.03709
NM_052989.3(IFT122):c.109-15T>C rs114298924 0.02307
NM_001174147.2(LMX1B):c.*1106_*1107del rs201556524 0.02138
NM_002734.5(PRKAR1A):c.87G>A (p.Ala29=) rs3730349 0.01815
NM_001384732.1(CPLANE1):c.5512A>G (p.Thr1838Ala) rs76245173 0.01809
NM_004380.3(CREBBP):c.7212A>G (p.Glu2404=) rs55916120 0.01802
NM_002734.5(PRKAR1A):c.*1837G>T rs201999343 0.01775
NM_000142.5(FGFR3):c.348C>T (p.Arg116=) rs2305179 0.01752
NM_001429.4(EP300):c.2499G>A (p.Ser833=) rs35560602 0.01700
NM_001039958.2(MESP2):c.*326C>T rs76163582 0.01683
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_020779.4(WDR35):c.*2315G>C rs72779355 0.01383
NM_003239.5(TGFB3):c.-543T>A rs74448762 0.01331
NM_017617.5(NOTCH1):c.2468-19G>A rs116515776 0.01328
NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser) rs56234888 0.01307
NM_001379081.2(FREM1):c.3472-20T>C rs77508679 0.01216
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_153717.3(EVC):c.2363G>A (p.Arg788His) rs73795088 0.01159
NM_014804.3(KIAA0753):c.2338C>T (p.Arg780Cys) rs73342622 0.01124
NM_004380.3(CREBBP):c.3128C>T (p.Ser1043Leu) rs61731376 0.01088
NM_020779.4(WDR35):c.*1575_*1576dup rs202074829 0.01057
NM_052989.3(IFT122):c.1943A>C (p.Glu648Ala) rs144397126 0.01035
NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=) rs148331061 0.00992
NM_003036.4(SKI):c.456C>T (p.Arg152=) rs149898447 0.00976
NM_147127.5(EVC2):c.-19T>C rs188508515 0.00949
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968 0.00898
NM_052989.3(IFT122):c.2415C>T (p.Arg805=) rs61744218 0.00860
NM_001039958.2(MESP2):c.-11G>A rs139599055 0.00847
NM_025132.4(WDR19):c.1581C>A (p.Thr527=) rs114689848 0.00847
NM_020812.4(DOCK6):c.3913C>T (p.Arg1305Cys) rs112911897 0.00801
NM_015330.6(SPECC1L):c.562C>T (p.Leu188Phe) rs56168869 0.00780
NM_000141.5(FGFR2):c.294G>A (p.Thr98=) rs1047101 0.00776
NM_002734.5(PRKAR1A):c.*138C>A rs28730842 0.00772
NM_006766.5(KAT6A):c.4324G>A (p.Ala1442Thr) rs113195648 0.00745
NM_002472.3(MYH8):c.3686T>C (p.Met1229Thr) rs35962914 0.00723
NM_014804.3(KIAA0753):c.1756A>G (p.Lys586Glu) rs61735441 0.00722
NM_001384732.1(CPLANE1):c.8344C>A (p.Pro2782Thr) rs77014998 0.00719
NM_021224.6(ZNF462):c.5984A>G (p.Asn1995Ser) rs74505324 0.00704
NM_004260.4(RECQL4):c.2463+7A>C rs767159855 0.00691
NM_001793.5(CDH3):c.-399G>C rs74674351 0.00688
NM_002734.5(PRKAR1A):c.*759C>T rs62087489 0.00683
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu) rs80340744 0.00645
NM_001271938.2(MEGF8):c.7673C>T (p.Pro2558Leu) rs147216997 0.00639
NM_003611.3(OFD1):c.714T>C (p.Tyr238=) rs139848884 0.00637
NM_001384732.1(CPLANE1):c.4134T>C (p.Pro1378=) rs79935028 0.00635
NM_005105.5(RBM8A):c.68-6T>C rs112273321 0.00607
NM_003611.3(OFD1):c.2929-18C>T rs180940027 0.00601
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896 0.00589
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser) rs114832250 0.00587
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135 0.00570
NM_015425.6(POLR1A):c.473G>C (p.Arg158Pro) rs146078741 0.00557
NM_001361.5(DHODH):c.*868A>G rs149599098 0.00547
NM_004247.4(EFTUD2):c.1058+3_1058+7del rs536749831 0.00538
NM_017565.4(FAM20A):c.1511C>T (p.Thr504Ile) rs146689929 0.00538
NM_020779.4(WDR35):c.*531T>A rs187092318 0.00530
NM_000522.5(HOXA13):c.480G>A (p.Ala160=) rs537218194 0.00504
NM_203486.3(DLL3):c.1384G>A (p.Ala462Thr) rs182454962 0.00494
NM_017617.5(NOTCH1):c.873C>T (p.Tyr291=) rs143654474 0.00477
NM_002010.3(FGF9):c.-118_-117insC rs1555223896 0.00456
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_020812.4(DOCK6):c.885C>T (p.Asn295=) rs146599144 0.00449
NM_207037.2(TCF12):c.1950C>T (p.Val650=) rs77034126 0.00440
NM_006766.5(KAT6A):c.1599-9C>T rs74337152 0.00424
NM_181486.4(TBX5):c.787G>A (p.Val263Met) rs147405081 0.00423
NM_012330.4(KAT6B):c.4407G>A (p.Ser1469=) rs114126792 0.00421
NM_017617.5(NOTCH1):c.1042G>C (p.Ala348Pro) rs201236538 0.00418
NM_006982.3(ALX1):c.191G>T (p.Arg64Leu) rs115596276 0.00412
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710 0.00410
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988 0.00410
NM_002472.3(MYH8):c.1632T>C (p.Pro544=) rs144596237 0.00409
NM_002734.5(PRKAR1A):c.204G>A (p.Leu68=) rs74863634 0.00405
NM_004608.4(TBX6):c.484G>A (p.Gly162Ser) rs56098093 0.00404
NM_203486.3(DLL3):c.409+61G>A rs377405105 0.00384
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr) rs77357563 0.00382
NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr) rs149647255 0.00381
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764 0.00379
NM_001957.4(EDNRA):c.1146A>G (p.Ser382=) rs141331809 0.00377
NM_001793.6(CDH3):c.*485A>G rs192275133 0.00369
NM_001001557.4(GDF6):c.255G>T (p.Pro85=) rs112296824 0.00366
NM_004260.4(RECQL4):c.1704+9C>T rs35876881 0.00365
NM_001395413.1(POR):c.508-14_508-13del rs72557912 0.00363
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NM_005850.5(SF3B4):c.735C>T (p.Pro245=) rs113949235 0.00359
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro) rs144372453 0.00352
NM_022039.4(FBXW4):c.134C>T (p.Ala45Val) rs557225276 0.00351
NM_015330.6(SPECC1L):c.1359C>T (p.Ser453=) rs143055101 0.00343
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656 0.00342
NM_001793.6(CDH3):c.805A>C (p.Met269Leu) rs36038900 0.00341
NM_002734.5(PRKAR1A):c.*151A>G rs11540571 0.00340
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser) rs139600783 0.00337
NM_020812.4(DOCK6):c.1833-19C>G rs188183013 0.00332
NM_020812.4(DOCK6):c.4344G>A (p.Pro1448=) rs200307398 0.00331
NM_020812.4(DOCK6):c.1289G>A (p.Arg430His) rs143655255 0.00330
NM_005515.4(MNX1):c.372T>C (p.Ala124=) rs867470183 0.00325
NM_017617.5(NOTCH1):c.5018+20C>T rs139772121 0.00320
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134 0.00318
NM_203486.3(DLL3):c.1307G>A (p.Arg436His) rs199831437 0.00317
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134 0.00309
NM_001271938.2(MEGF8):c.7421G>A (p.Arg2474His) rs45623135 0.00308
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245 0.00298
NM_003238.6(TGFB2):c.272G>A (p.Arg91His) rs10482721 0.00297
NM_003722.5(TP63):c.1531C>A (p.Pro511Thr) rs148076109 0.00295
NM_004608.4(TBX6):c.1010C>T (p.Pro337Leu) rs149105120 0.00295
NM_020928.2(ZSWIM6):c.1722C>T (p.Asp574=) rs187525163 0.00290
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395 0.00286
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met) rs61754061 0.00285
NM_020779.4(WDR35):c.2262C>T (p.Asp754=) rs147206032 0.00285
NM_203486.3(DLL3):c.160C>A (p.Leu54Ile) rs200673897 0.00285
NM_001361.5(DHODH):c.*139C>T rs140263128 0.00282
NM_005631.5(SMO):c.621C>T (p.Tyr207=) rs56318556 0.00282
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_001271938.2(MEGF8):c.6481+11T>G rs138919410 0.00270
NM_012330.4(KAT6B):c.375C>T (p.Ser125=) rs41314998 0.00269
NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=) rs148904096 0.00267
NM_015330.6(SPECC1L):c.153+5T>G rs143374533 0.00265
NM_022039.4(FBXW4):c.*453C>T rs570558261 0.00263
NM_001278689.2(EOGT):c.122G>T (p.Arg41Leu) rs116007086 0.00262
NM_016277.5(RAB23):c.481+5A>G rs150762175 0.00259
NM_020779.4(WDR35):c.2964+12C>T rs113663112 0.00252
NM_025132.4(WDR19):c.-15G>T rs150860929 0.00252
NM_001271938.2(MEGF8):c.7705G>A (p.Val2569Ile) rs147133204 0.00251
NM_025132.4(WDR19):c.3183+9G>A rs138318063 0.00248
NM_025132.4(WDR19):c.2142+12G>A rs149621476 0.00246
NM_005816.5(CD96):c.807+14A>C rs144245769 0.00245
NM_153717.3(EVC):c.532G>A (p.Val178Ile) rs144897690 0.00243
NM_001793.6(CDH3):c.1500C>T (p.Thr500=) rs35232945 0.00241
NM_000557.5(GDF5):c.652A>C (p.Arg218=) rs116467702 0.00240
NM_014804.3(KIAA0753):c.236T>C (p.Val79Ala) rs201379908 0.00240
NM_000557.5(GDF5):c.*520T>C rs188252641 0.00238
NM_000557.5(GDF5):c.462C>A (p.Pro154=) rs150686636 0.00236
NM_020779.4(WDR35):c.1591C>G (p.Leu531Val) rs148242353 0.00233
NM_022039.4(FBXW4):c.*233G>T rs535051082 0.00231
NM_001361.5(DHODH):c.294C>T (p.Asp98=) rs61747639 0.00227
NM_001793.6(CDH3):c.1087C>T (p.Arg363Cys) rs74026937 0.00225
NM_002601.4(PDE6D):c.409G>A (p.Asp137Asn) rs146510084 0.00224
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00223
NM_020779.4(WDR35):c.355C>T (p.Arg119Cys) rs140308808 0.00221
NM_004380.3(CREBBP):c.4822C>A (p.Pro1608Thr) rs73491901 0.00217
NM_004380.3(CREBBP):c.6564G>A (p.Gln2188=) rs73491896 0.00217
NM_052989.3(IFT122):c.2294A>C (p.Lys765Thr) rs146026277 0.00212
NM_147127.5(EVC2):c.463T>C (p.Ser155Pro) rs143388379 0.00212
NM_153717.3(EVC):c.1636A>G (p.Met546Val) rs112608085 0.00209
NM_052989.3(IFT122):c.3129C>T (p.Arg1043=) rs76881473 0.00206
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser) rs145277501 0.00203
NM_020779.4(WDR35):c.1524+11C>A rs200213874 0.00201
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557 0.00201
NM_203486.3(DLL3):c.390G>A (p.Glu130=) rs113780398 0.00200
NM_020779.4(WDR35):c.3121+3G>A rs200042577 0.00199
NM_016277.5(RAB23):c.*1706T>C rs11969200 0.00198
NM_001330677.2(TBX15):c.837A>G (p.Thr279=) rs140670116 0.00196
NM_153717.3(EVC):c.8G>C (p.Arg3Pro) rs756852655 0.00195
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_153717.3(EVC):c.93C>G (p.Ala31=) rs866226288 0.00194
NM_005105.5(RBM8A):c.205+17C>A rs115417561 0.00191
NM_001271938.2(MEGF8):c.8176C>T (p.Arg2726Cys) rs141224456 0.00186
NM_052989.3(IFT122):c.617T>C (p.Ile206Thr) rs59912693 0.00184
NM_002601.4(PDE6D):c.406G>A (p.Asp136Asn) rs142298615 0.00181
NM_003722.5(TP63):c.1788G>A (p.Ala596=) rs148577576 0.00180
NM_003036.4(SKI):c.1211+19C>T rs182600375 0.00178
NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=) rs376744729 0.00178
NM_153717.3(EVC):c.1963G>A (p.Ala655Thr) rs149344570 0.00177
NM_001374353.1(GLI2):c.2865T>A (p.Pro955=) rs747247646 0.00176
NM_001384732.1(CPLANE1):c.8568G>C (p.Val2856=) rs145215555 0.00174
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) rs183156491 0.00171
NM_020779.4(WDR35):c.2066G>A (p.Arg689His) rs74470618 0.00168
NM_003036.4(SKI):c.2184G>C (p.Pro728=) rs543584871 0.00167
NM_025132.4(WDR19):c.2361C>T (p.Phe787=) rs200133722 0.00165
NM_001361.5(DHODH):c.72C>T (p.Phe24=) rs61753576 0.00163
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_001039958.2(MESP2):c.908T>C (p.Leu303Pro) rs185706635 0.00162
NM_147127.5(EVC2):c.1471-6C>T rs115466792 0.00162
NM_000142.5(FGFR3):c.1959+15G>C rs17886888 0.00158
NM_001379081.2(FREM1):c.2337+19A>G rs201898982 0.00158
NM_020779.4(WDR35):c.*1681A>G rs188310451 0.00158
NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn) rs191357265 0.00156
NM_023110.3(FGFR1):c.336C>T (p.Thr112=) rs148480919 0.00153
NM_203486.3(DLL3):c.618C>T (p.Pro206=) rs192624990 0.00153
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg) rs35926225 0.00150
NM_000921.5(PDE3A):c.1376G>A (p.Arg459Gln) rs141325069 0.00148
NM_003036.4(SKI):c.1196C>T (p.Ala399Val) rs141862996 0.00148
NM_020779.4(WDR35):c.*601A>G rs182037850 0.00146
NM_006766.5(KAT6A):c.4952C>T (p.Pro1651Leu) rs144417514 0.00145
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met) rs144701688 0.00145
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr) rs143343508 0.00135
NM_203486.3(DLL3):c.352-15C>T rs201902809 0.00135
NM_015330.6(SPECC1L):c.2149A>G (p.Thr717Ala) rs6004132 0.00133
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) rs150550701 0.00133
NM_003611.3(OFD1):c.1654+14T>A rs192720874 0.00131
NM_001040167.2(LFNG):c.667G>A (p.Val223Ile) rs142596712 0.00128
NM_001361.5(DHODH):c.765C>T (p.Ile255=) rs61757214 0.00128
NM_153717.3(EVC):c.1040C>T (p.Thr347Met) rs34947207 0.00127
NM_052989.3(IFT122):c.3462G>A (p.Leu1154=) rs150692598 0.00125
NM_004380.3(CREBBP):c.4133+4A>G rs372126168 0.00124
NM_020436.5(SALL4):c.1950C>T (p.Gly650=) rs149008635 0.00121
NM_020436.5(SALL4):c.1353C>T (p.Ala451=) rs140110863 0.00120
NM_052989.3(IFT122):c.3244A>G (p.Ile1082Val) rs143490747 0.00120
NM_153717.3(EVC):c.1464+5C>T rs369734950 0.00120
NM_015631.6(TCTN3):c.946A>G (p.Thr316Ala) rs200042949 0.00118
NM_005515.4(MNX1):c.691+10C>G rs201139239 0.00115
NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val) rs188270459 0.00115
NM_004260.4(RECQL4):c.3010C>T (p.Arg1004Trp) rs36023964 0.00112
NM_001384732.1(CPLANE1):c.8374-15G>A rs74881219 0.00111
NM_017617.5(NOTCH1):c.1511G>A (p.Arg504His) rs201768800 0.00110
NM_020436.5(SALL4):c.2166A>G (p.Leu722=) rs141708963 0.00110
NM_203486.3(DLL3):c.63C>T (p.Leu21=) rs146255899 0.00109
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln) rs184394424 0.00107
NM_001374353.1(GLI2):c.2437T>C (p.Phe813Leu) rs556743028 0.00106
NM_020436.5(SALL4):c.1287T>G (p.Phe429Leu) rs143818932 0.00106
NM_052989.3(IFT122):c.2433C>T (p.Cys811=) rs141626835 0.00103
NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser) rs878852992 0.00102
NM_004260.4(RECQL4):c.514C>T (p.Leu172Phe) rs188859497 0.00102
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649 0.00102
NM_001330677.2(TBX15):c.980G>A (p.Arg327His) rs141002143 0.00101
NM_001429.4(EP300):c.6390G>A (p.Met2130Ile) rs147973806 0.00101
NM_023110.3(FGFR1):c.*2104del rs201364530 0.00099
NM_001384732.1(CPLANE1):c.994A>G (p.Met332Val) rs369404481 0.00098
NM_001271938.2(MEGF8):c.5344-14C>T rs369531263 0.00097
NM_020779.4(WDR35):c.3335A>G (p.Lys1112Arg) rs138007924 0.00097
NM_147127.5(EVC2):c.707-18G>A rs144093697 0.00097
NM_001271938.2(MEGF8):c.2454C>T (p.Ser818=) rs140035679 0.00096
NM_001271938.2(MEGF8):c.7136+10A>C rs750945705 0.00096
NM_001957.4(EDNRA):c.24A>G (p.Ala8=) rs146092355 0.00096
NM_020436.5(SALL4):c.1497G>T (p.Thr499=) rs148435082 0.00096
NM_020779.4(WDR35):c.770T>C (p.Val257Ala) rs142955097 0.00095
NM_005515.4(MNX1):c.126A>G (p.Gly42=) rs536068265 0.00093
NM_016277.5(RAB23):c.*677T>C rs375855440 0.00093
NM_017617.5(NOTCH1):c.5506G>A (p.Asp1836Asn) rs200100726 0.00093
NM_020779.4(WDR35):c.2678T>C (p.Leu893Ser) rs151047156 0.00093
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro) rs557830930 0.00093
NM_017617.5(NOTCH1):c.1862G>A (p.Arg621His) rs138504021 0.00092
NM_001271938.2(MEGF8):c.3455C>T (p.Pro1152Leu) rs367649187 0.00091
NM_002734.5(PRKAR1A):c.*847A>G rs144299673 0.00091
NM_147127.5(EVC2):c.3272+7C>T rs201048030 0.00090
NM_001379081.2(FREM1):c.5049C>T (p.Asn1683=) rs200063334 0.00089
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val) rs144493712 0.00089
NM_001374353.1(GLI2):c.2939C>G (p.Pro980Arg) rs563818052 0.00088
NM_001374353.1(GLI2):c.607G>A (p.Ala203Thr) rs147044066 0.00088
NM_017617.5(NOTCH1):c.6980G>A (p.Arg2327Gln) rs202065858 0.00088
NM_052989.3(IFT122):c.2749T>G (p.Tyr917Asp) rs146818399 0.00088
NM_016277.5(RAB23):c.*3189T>C rs139222657 0.00086
NM_181486.4(TBX5):c.316A>G (p.Ile106Val) rs147710408 0.00086
NM_006494.4(ERF):c.1057A>G (p.Met353Val) rs149405304 0.00085
NM_153717.3(EVC):c.1612C>G (p.Leu538Val) rs147772724 0.00085
NM_004380.3(CREBBP):c.895A>G (p.Ser299Gly) rs149961222 0.00084
NM_153717.3(EVC):c.2562-3C>T rs375960614 0.00084
NM_003036.4(SKI):c.216C>T (p.Pro72=) rs756778048 0.00083
NM_004260.4(RECQL4):c.308C>T (p.Pro103Leu) rs199543866 0.00082
NM_147127.5(EVC2):c.1005+3G>A rs141371552 0.00082
NM_001374353.1(GLI2):c.4030G>T (p.Val1344Leu) rs145939921 0.00081
NM_001429.4(EP300):c.2054-3T>C rs375287913 0.00081
NM_001174147.2(LMX1B):c.*38G>A rs201442685 0.00080
NM_017617.5(NOTCH1):c.1440C>T (p.Pro480=) rs61751555 0.00080
NM_002601.4(PDE6D):c.140-3C>T rs368073853 0.00079
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys) rs79782048 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_004260.4(RECQL4):c.3622C>T (p.Arg1208Cys) rs41555416 0.00076
NM_170707.4(LMNA):c.1489-16C>G rs201379016 0.00076
NM_052989.3(IFT122):c.1026C>T (p.Asp342=) rs79187669 0.00075
NM_001271938.2(MEGF8):c.7567A>G (p.Thr2523Ala) rs139192223 0.00074
NM_001374353.1(GLI2):c.4073T>C (p.Leu1358Pro) rs371219507 0.00074
NM_001429.4(EP300):c.2656C>T (p.Pro886Ser) rs148308496 0.00074
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met) rs187473846 0.00074
NM_004260.4(RECQL4):c.1847A>G (p.Asn616Ser) rs199654783 0.00073
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe) rs200059077 0.00073
NM_020779.4(WDR35):c.3467T>G (p.Ile1156Arg) rs147325795 0.00072
NM_015631.6(TCTN3):c.1764C>T (p.Val588=) rs137856303 0.00071
NM_001429.4(EP300):c.1519A>G (p.Ser507Gly) rs146242251 0.00070
NM_004380.3(CREBBP):c.3698+7G>A rs374345970 0.00070
NM_001039958.2(MESP2):c.859C>T (p.Pro287Ser) rs201904631 0.00069
NM_153717.3(EVC):c.802-15_802-12del rs386671011 0.00069
NM_017617.5(NOTCH1):c.1389C>T (p.Asn463=) rs61733293 0.00068
NM_001271938.2(MEGF8):c.8433C>T (p.His2811=) rs371191311 0.00067
NM_025132.4(WDR19):c.2363+7C>T rs190180293 0.00066
NM_153717.3(EVC):c.2449+12C>G rs751678723 0.00066
NM_003036.4(SKI):c.1593T>C (p.Pro531=) rs144279718 0.00065
NM_015631.6(TCTN3):c.1425G>A (p.Arg475=) rs144543830 0.00065
NM_001379081.2(FREM1):c.4867T>C (p.Leu1623=) rs369101934 0.00064
NM_004260.4(RECQL4):c.3600G>A (p.Thr1200=) rs35225938 0.00064
NM_004380.3(CREBBP):c.4494A>G (p.Arg1498=) rs149560660 0.00064
NM_017617.5(NOTCH1):c.4898G>A (p.Arg1633His) rs375018022 0.00064
NM_025132.4(WDR19):c.2608G>A (p.Asp870Asn) rs201963605 0.00064
NM_147127.5(EVC2):c.328T>C (p.Phe110Leu) rs150444745 0.00064
NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys) rs144291418 0.00063
NM_001361.5(DHODH):c.*1088T>C rs567852382 0.00063
NM_004260.4(RECQL4):c.817G>A (p.Ala273Thr) rs34103564 0.00063
NM_004380.3(CREBBP):c.4133+9G>A rs376602227 0.00063
NM_015631.6(TCTN3):c.280T>C (p.Leu94=) rs367982164 0.00062
NM_001271938.2(MEGF8):c.3033C>T (p.Thr1011=) rs145216125 0.00061
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600 0.00061
NM_017617.5(NOTCH1):c.6836C>T (p.Ala2279Val) rs200370953 0.00061
NM_203486.3(DLL3):c.153C>T (p.Ser51=) rs373980582 0.00061
NM_001271938.2(MEGF8):c.3154T>C (p.Trp1052Arg) rs202039332 0.00060
NM_001374353.1(GLI2):c.4577G>A (p.Arg1526His) rs138987487 0.00059
NM_006766.5(KAT6A):c.3561C>T (p.Cys1187=) rs368311389 0.00059
NM_020779.4(WDR35):c.1227A>G (p.Thr409=) rs148828104 0.00059
NM_001271938.2(MEGF8):c.3843G>A (p.Arg1281=) rs148792547 0.00058
NM_017617.5(NOTCH1):c.3835C>T (p.Arg1279Cys) rs182330532 0.00058
NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=) rs371365065 0.00058
NM_017617.5(NOTCH1):c.7606G>A (p.Val2536Ile) rs111627256 0.00058
NM_023110.3(FGFR1):c.2361G>A (p.Thr787=) rs200408837 0.00058
NM_017617.5(NOTCH1):c.6291G>A (p.Pro2097=) rs201987555 0.00057
NM_052989.3(IFT122):c.3487T>A (p.Phe1163Ile) rs200606803 0.00057
NM_001174147.2(LMX1B):c.1059C>T (p.Asp353=) rs148940265 0.00056
NM_003036.4(SKI):c.1528G>A (p.Ala510Thr) rs61735580 0.00056
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala) rs150440590 0.00056
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser) rs199654211 0.00056
NM_020436.5(SALL4):c.2041G>A (p.Ala681Thr) rs147385529 0.00056
NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly) rs201354264 0.00056
NM_153717.3(EVC):c.1128G>A (p.Ala376=) rs111234281 0.00055
NM_001429.4(EP300):c.316A>G (p.Ser106Gly) rs150245975 0.00054
NM_001374353.1(GLI2):c.148+5T>C rs201273354 0.00053
NM_001374353.1(GLI2):c.2108G>A (p.Arg703His) rs149091975 0.00053
NM_004260.4(RECQL4):c.1132-20C>T rs375444239 0.00053
NM_004260.4(RECQL4):c.3317G>A (p.Arg1106His) rs34236392 0.00053
NM_203486.3(DLL3):c.1388G>T (p.Arg463Leu) rs758148689 0.00053
NM_001102564.3(IFT43):c.136C>T (p.Leu46=) rs151137087 0.00052
NM_001040167.2(LFNG):c.1021C>T (p.Arg341Trp) rs147110861 0.00051
NM_001174147.2(LMX1B):c.870C>A (p.Ser290=) rs544649941 0.00051
NM_017617.5(NOTCH1):c.5781G>A (p.Thr1927=) rs367587437 0.00051
NM_017617.5(NOTCH1):c.6108C>T (p.Ala2036=) rs369167693 0.00051
NM_020779.4(WDR35):c.1072G>A (p.Val358Ile) rs151227688 0.00051
NM_153717.3(EVC):c.569G>T (p.Arg190Leu) rs113002470 0.00051
NM_001040167.2(LFNG):c.312C>T (p.Arg104=) rs552455490 0.00050
NM_001104631.2(PDE4D):c.*4675G>A rs536451907 0.00050
NM_004380.3(CREBBP):c.2409C>T (p.Ser803=) rs139207930 0.00050
NM_203486.3(DLL3):c.1356C>T (p.Val452=) rs554268445 0.00050
NM_001379081.2(FREM1):c.4995C>T (p.Asp1665=) rs372941168 0.00049
NM_004260.4(RECQL4):c.2543G>A (p.Arg848His) rs368989729 0.00049
NM_004380.3(CREBBP):c.5886C>T (p.Ile1962=) rs370565083 0.00049
NM_052989.3(IFT122):c.986C>T (p.Ala329Val) rs200915373 0.00049
NM_147127.5(EVC2):c.1886+7C>G rs376738238 0.00049
NM_001957.4(EDNRA):c.549-10T>C rs10305905 0.00048
NM_017617.5(NOTCH1):c.3970G>A (p.Val1324Met) rs149057410 0.00048
NM_020928.2(ZSWIM6):c.1472A>G (p.Asn491Ser) rs201912422 0.00048
NM_001174147.2(LMX1B):c.140-4A>G rs368126014 0.00047
NM_020779.4(WDR35):c.2936G>A (p.Arg979Gln) rs138076014 0.00047
NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile) rs200776757 0.00047
NM_000474.4(TWIST1):c.420G>C (p.Ser140=) rs73079389 0.00046
NM_001040167.2(LFNG):c.573C>T (p.Ser191=) rs139864844 0.00046
NM_001374353.1(GLI2):c.2804G>C (p.Gly935Ala) rs970835131 0.00046
NM_003036.4(SKI):c.1734C>T (p.Ser578=) rs117443908 0.00046
NM_012330.4(KAT6B):c.1468C>T (p.Pro490Ser) rs141930257 0.00046
NM_017617.5(NOTCH1):c.6409C>T (p.Pro2137Ser) rs372698234 0.00046
NM_147127.5(EVC2):c.1452G>A (p.Leu484=) rs137884710 0.00046
NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu) rs145425340 0.00046
NM_001102564.3(IFT43):c.383G>A (p.Arg128Gln) rs138684775 0.00045
NM_001271938.2(MEGF8):c.281C>T (p.Pro94Leu) rs570125469 0.00045
NM_001384732.1(CPLANE1):c.4309A>G (p.Ile1437Val) rs773668280 0.00045
NM_001429.4(EP300):c.6417C>T (p.Gly2139=) rs111315183 0.00045
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=) rs568700183 0.00045
NM_017617.5(NOTCH1):c.5403A>G (p.Ser1801=) rs201358664 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_017617.5(NOTCH1):c.1553C>T (p.Thr518Met) rs377535397 0.00044
NM_017617.5(NOTCH1):c.4262A>G (p.Asn1421Ser) rs76473337 0.00044
NM_020436.5(SALL4):c.2268C>T (p.Ser756=) rs145078336 0.00044
NM_052989.3(IFT122):c.2908C>T (p.Arg970Cys) rs145470016 0.00044
NM_153717.3(EVC):c.1653G>A (p.Pro551=) rs151293705 0.00044
NM_001040167.2(LFNG):c.735+9C>T rs202171160 0.00043
NM_001384732.1(CPLANE1):c.3012T>C (p.Tyr1004=) rs546670307 0.00043
NM_004260.4(RECQL4):c.286C>A (p.Arg96=) rs375568877 0.00043
NM_006494.4(ERF):c.1262C>T (p.Pro421Leu) rs533363033 0.00043
NM_006494.4(ERF):c.659C>A (p.Pro220His) rs200767779 0.00043
NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu) rs140382957 0.00043
NM_147127.5(EVC2):c.229-4T>G rs375534154 0.00043
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr) rs121909633 0.00042
NM_153717.3(EVC):c.1540G>A (p.Glu514Lys) rs141896077 0.00042
NM_001271938.2(MEGF8):c.6274-9C>G rs373417416 0.00041
NM_001374353.1(GLI2):c.2034G>A (p.Thr678=) rs139298853 0.00041
NM_001374353.1(GLI2):c.3672G>A (p.Met1224Ile) rs138191075 0.00041
NM_001429.4(EP300):c.739A>G (p.Met247Val) rs147583157 0.00041
NM_003722.5(TP63):c.498C>T (p.Pro166=) rs146612442 0.00041
NM_004380.3(CREBBP):c.879G>A (p.Val293=) rs144344016 0.00041
NM_017617.5(NOTCH1):c.701G>A (p.Arg234His) rs150737112 0.00041
NM_025132.4(WDR19):c.13+15G>A rs150633358 0.00041
NM_153717.3(EVC):c.1892C>T (p.Thr631Met) rs139481521 0.00041
NM_000141.5(FGFR2):c.2190C>T (p.Asn730=) rs55637244 0.00040
NM_001102564.3(IFT43):c.369-18G>A rs199590828 0.00040
NM_004380.3(CREBBP):c.6661A>C (p.Met2221Leu) rs200716582 0.00040
NM_017617.5(NOTCH1):c.3644-4G>A rs376161552 0.00040
NM_022039.4(FBXW4):c.*204G>A rs185181909 0.00040
NM_023110.3(FGFR1):c.1553-13G>A rs17182414 0.00040
NM_052989.3(IFT122):c.3266-19C>T rs201753855 0.00040
NM_001271938.2(MEGF8):c.6222G>A (p.Lys2074=) rs150834651 0.00039
NM_015631.6(TCTN3):c.1567C>T (p.Leu523=) rs150579201 0.00039
NM_020436.5(SALL4):c.24A>G (p.Lys8=) rs149430070 0.00039
NM_181486.4(TBX5):c.354T>C (p.Asp118=) rs151249768 0.00039
NM_004380.3(CREBBP):c.4119C>T (p.Pro1373=) rs3025679 0.00038
NM_004380.3(CREBBP):c.458C>T (p.Pro153Leu) rs146538907 0.00038
NM_052989.3(IFT122):c.829C>T (p.Arg277Trp) rs61744448 0.00038
NM_147127.5(EVC2):c.3288A>G (p.Gln1096=) rs138902279 0.00038
NM_001271938.2(MEGF8):c.7089C>T (p.Cys2363=) rs138235390 0.00037
NM_001374353.1(GLI2):c.3575G>T (p.Ser1192Ile) rs138909736 0.00037
NM_001374353.1(GLI2):c.598G>A (p.Ala200Thr) rs111840592 0.00037
NM_016277.5(RAB23):c.482-13C>G rs372666007 0.00037
NM_023110.3(FGFR1):c.177C>T (p.Asp59=) rs367880371 0.00037
NM_052989.3(IFT122):c.416+18G>A rs147288978 0.00037
NM_147127.5(EVC2):c.3272+17G>A rs367667945 0.00037
NM_153717.3(EVC):c.2782+15C>G rs373862588 0.00037
NM_153717.3(EVC):c.2805G>A (p.Arg935=) rs143631233 0.00037
NM_000474.4(TWIST1):c.247G>A (p.Gly83Ser) rs545987863 0.00036
NM_001104631.1(PDE4D):c.-126A>G rs543720951 0.00036
NM_001374353.1(GLI2):c.1857C>T (p.Ala619=) rs200619416 0.00036
NM_001374353.1(GLI2):c.2271T>C (p.Ser757=) rs553560055 0.00036
NM_001374353.1(GLI2):c.4530T>C (p.Gly1510=) rs144700510 0.00036
NM_002734.5(PRKAR1A):c.221G>A (p.Arg74His) rs200069356 0.00036
NM_020779.4(WDR35):c.*763T>C rs560228088 0.00036
NM_052989.3(IFT122):c.1252G>A (p.Asp418Asn) rs148626512 0.00036
NM_052989.3(IFT122):c.2625C>T (p.Asn875=) rs76572254 0.00036
NM_153717.3(EVC):c.1321G>A (p.Val441Ile) rs202150959 0.00036
NM_000141.5(FGFR2):c.2232C>T (p.Pro744=) rs142639988 0.00035
NM_001374353.1(GLI2):c.305G>A (p.Arg102Gln) rs148442092 0.00035
NM_001374353.1(GLI2):c.3309C>T (p.Ser1103=) rs145751002 0.00035
NM_001384732.1(CPLANE1):c.7275G>A (p.Ala2425=) rs137899908 0.00035
NM_001429.4(EP300):c.6951G>A (p.Arg2317=) rs139551099 0.00035
NM_003036.4(SKI):c.1033G>A (p.Ala345Thr) rs150934009 0.00035
NM_012330.4(KAT6B):c.3729G>C (p.Lys1243Asn) rs550048327 0.00035
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=) rs377217445 0.00035
NM_017617.5(NOTCH1):c.6429C>T (p.Asn2143=) rs369845924 0.00035
NM_017617.5(NOTCH1):c.6636C>T (p.Asp2212=) rs370606059 0.00035
NM_001271938.2(MEGF8):c.390G>A (p.Leu130=) rs377093238 0.00034
NM_002601.4(PDE6D):c.258C>T (p.Cys86=) rs151191604 0.00034
NM_012330.4(KAT6B):c.2374-10T>C rs376833457 0.00034
NM_016277.5(RAB23):c.*984G>A rs148372304 0.00034
NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser) rs201077220 0.00034
NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu) rs559917218 0.00034
NM_023110.3(FGFR1):c.1398C>T (p.Pro466=) rs150652786 0.00034
NM_052989.3(IFT122):c.1553G>A (p.Arg518His) rs138223055 0.00034
NM_147127.5(EVC2):c.1470+20A>G rs375025494 0.00034
NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys) rs572056540 0.00034
NM_153717.3(EVC):c.2712C>T (p.Ser904=) rs146829332 0.00034
NM_203486.3(DLL3):c.677C>G (p.Pro226Arg) rs145191532 0.00034
NM_001040167.2(LFNG):c.723C>T (p.Ser241=) rs115678269 0.00033
NM_001102564.3(IFT43):c.516C>T (p.Val172=) rs372647793 0.00033
NM_001374353.1(GLI2):c.2251C>T (p.Leu751=) rs200831069 0.00033
NM_001379081.2(FREM1):c.6279A>G (p.Val2093=) rs373107801 0.00033
NM_006494.4(ERF):c.257+8C>T rs137956794 0.00033
NM_017617.5(NOTCH1):c.1038C>T (p.His346=) rs376951155 0.00033
NM_020436.5(SALL4):c.2835C>T (p.Asp945=) rs143702441 0.00033
NM_023110.3(FGFR1):c.1431-5G>A rs201773631 0.00033
NM_147127.5(EVC2):c.48G>T (p.Gly16=) rs537265864 0.00033
NM_153717.3(EVC):c.2132A>G (p.Glu711Gly) rs373726507 0.00033
NM_000141.5(FGFR2):c.1986+7C>T rs199697707 0.00032
NM_003036.4(SKI):c.948G>A (p.Lys316=) rs368128582 0.00032
NM_052989.3(IFT122):c.2643C>T (p.Ala881=) rs150055466 0.00032
NM_001271938.2(MEGF8):c.5512A>G (p.Met1838Val) rs200501111 0.00031
NM_001271938.2(MEGF8):c.8271C>T (p.Pro2757=) rs755400663 0.00031
NM_001384732.1(CPLANE1):c.3150-12A>G rs755478099 0.00031
NM_001384732.1(CPLANE1):c.6443A>G (p.Asn2148Ser) rs150999024 0.00031
NM_004260.4(RECQL4):c.1309C>T (p.Pro437Ser) rs760413890 0.00031
NM_004260.4(RECQL4):c.2473C>G (p.Leu825Val) rs371519199 0.00031
NM_004380.3(CREBBP):c.3982+9C>T rs114668693 0.00031
NM_012330.4(KAT6B):c.4141G>C (p.Asp1381His) rs376231865 0.00031
NM_015631.6(TCTN3):c.1317C>T (p.Cys439=) rs34474203 0.00031
NM_017617.5(NOTCH1):c.2674C>T (p.Arg892Cys) rs578228721 0.00031
NM_017617.5(NOTCH1):c.7223T>C (p.Leu2408Pro) rs767728582 0.00031
NM_020436.5(SALL4):c.1391C>T (p.Pro464Leu) rs139485493 0.00031
NM_020436.5(SALL4):c.1630C>T (p.Pro544Ser) rs150402866 0.00031
NM_020779.4(WDR35):c.2965-4G>T rs199696980 0.00031
NM_022039.4(FBXW4):c.353G>A (p.Gly118Glu) rs532195262 0.00031
NM_023110.3(FGFR1):c.*1822A>C rs570038633 0.00031
NM_025132.4(WDR19):c.2239A>G (p.Ile747Val) rs144335584 0.00031
NM_001174147.2(LMX1B):c.1200C>T (p.Phe400=) rs372183654 0.00030
NM_004260.4(RECQL4):c.1117C>T (p.Leu373Phe) rs370125881 0.00030
NM_004380.3(CREBBP):c.2616G>A (p.Thr872=) rs781112420 0.00030
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro) rs587783504 0.00030
NM_012330.4(KAT6B):c.6162C>T (p.His2054=) rs192237531 0.00030
NM_020779.4(WDR35):c.2964+10C>A rs201207790 0.00030
NM_020779.4(WDR35):c.681T>C (p.Leu227=) rs143901897 0.00030
NM_147127.5(EVC2):c.2304G>C (p.Val768=) rs139936564 0.00030
NM_000141.5(FGFR2):c.*674G>T rs566155088 0.00029
NM_000557.5(GDF5):c.-39C>T rs149907722 0.00029
NM_001374353.1(GLI2):c.3572G>A (p.Arg1191His) rs200537256 0.00029
NM_001429.4(EP300):c.6481A>G (p.Met2161Val) rs188035979 0.00029
NM_003036.4(SKI):c.312A>T (p.Val104=) rs368195821 0.00029
NM_004260.4(RECQL4):c.2260C>T (p.Arg754Trp) rs193024188 0.00029
NM_004260.4(RECQL4):c.2886-18C>T rs544576633 0.00029
NM_004260.4(RECQL4):c.663C>T (p.Ile221=) rs367960606 0.00029
NM_004380.3(CREBBP):c.2239A>G (p.Met747Val) rs142932907 0.00029
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=) rs146168040 0.00029
NM_004380.3(CREBBP):c.3985C>T (p.Leu1329=) rs149055008 0.00029
NM_012330.4(KAT6B):c.3416G>A (p.Arg1139Lys) rs149295701 0.00029
NM_015631.6(TCTN3):c.889-8G>A rs374331871 0.00029
NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg) rs201620755 0.00029
NM_023110.3(FGFR1):c.2424C>G (p.Pro808=) rs374507681 0.00029
NM_023110.3(FGFR1):c.2464C>T (p.Arg822Cys) rs17182463 0.00029
NM_052989.3(IFT122):c.417-16T>C rs192128912 0.00029
NM_153717.3(EVC):c.1928G>A (p.Arg643His) rs144906677 0.00029
NM_001429.4(EP300):c.2380-18T>C rs189468196 0.00028
NM_004260.4(RECQL4):c.10C>T (p.Leu4=) rs878854640 0.00028
NM_004260.4(RECQL4):c.3056-11C>T rs374983038 0.00028
NM_012330.4(KAT6B):c.4390G>A (p.Val1464Met) rs143733161 0.00028
NM_020436.5(SALL4):c.702G>A (p.Gln234=) rs146143890 0.00028
NM_147127.5(EVC2):c.1886+11A>G rs61218140 0.00028
NM_000141.5(FGFR2):c.1761C>T (p.Ser587=) rs147173572 0.00027
NM_001271938.2(MEGF8):c.6395G>A (p.Arg2132Gln) rs201140958 0.00027
NM_004260.4(RECQL4):c.1023C>T (p.Ile341=) rs371421344 0.00027
NM_005515.4(MNX1):c.402T>C (p.Ala134=) rs1241330496 0.00027
NM_023110.3(FGFR1):c.359-4A>G rs185233212 0.00027
NM_025132.4(WDR19):c.1039C>T (p.Leu347=) rs201958863 0.00027
NM_153717.3(EVC):c.802-12C>T rs61514191 0.00027
NM_000141.5(FGFR2):c.1911C>T (p.Asn637=) rs149008039 0.00026
NM_000557.5(GDF5):c.953G>C (p.Arg318Pro) rs201590447 0.00026
NM_001039958.2(MESP2):c.357G>C (p.Leu119=) rs575410954 0.00026
NM_001102564.3(IFT43):c.201C>T (p.Ser67=) rs140127543 0.00026
NM_001174147.2(LMX1B):c.327-17G>A rs372620265 0.00026
NM_001271938.2(MEGF8):c.3873G>A (p.Gly1291=) rs373710119 0.00026
NM_001271938.2(MEGF8):c.4041C>T (p.Phe1347=) rs148895205 0.00026
NM_001429.4(EP300):c.4724A>G (p.Asn1575Ser) rs144547088 0.00026
NM_003036.4(SKI):c.1302G>A (p.Pro434=) rs111459205 0.00026
NM_003036.4(SKI):c.1384C>G (p.Pro462Ala) rs199797772 0.00026
NM_004260.4(RECQL4):c.1779C>T (p.Ala593=) rs369939552 0.00026
NM_012330.4(KAT6B):c.4434C>T (p.Gly1478=) rs148364222 0.00026
NM_016277.5(RAB23):c.51T>C (p.Asn17=) rs141279756 0.00026
NM_017617.5(NOTCH1):c.5638+19A>G rs368675083 0.00026
NM_020436.5(SALL4):c.1358A>G (p.Asn453Ser) rs146644204 0.00026
NM_020779.4(WDR35):c.*807T>C rs555257043 0.00026
NM_153717.3(EVC):c.1797G>A (p.Ala599=) rs199875230 0.00026
NM_001271938.2(MEGF8):c.1275T>C (p.Leu425=) rs370779185 0.00025
NM_001271938.2(MEGF8):c.3625C>T (p.Arg1209Trp) rs372257661 0.00025
NM_001361.5(DHODH):c.*252C>T rs147792232 0.00025
NM_001429.4(EP300):c.5172C>A (p.Thr1724=) rs142330184 0.00025
NM_004260.4(RECQL4):c.3402T>C (p.Asp1134=) rs371037028 0.00025
NM_153717.3(EVC):c.2276G>A (p.Ser759Asn) rs201776972 0.00025
NM_001374353.1(GLI2):c.2013C>T (p.Pro671=) rs147314921 0.00024
NM_001374353.1(GLI2):c.4473C>T (p.Pro1491=) rs139840265 0.00024
NM_001429.4(EP300):c.5808G>A (p.Ala1936=) rs144798492 0.00024
NM_003036.4(SKI):c.1321C>T (p.Arg441Trp) rs201613746 0.00024
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu) rs142352920 0.00024
NM_004260.4(RECQL4):c.1621-12C>G rs376436364 0.00024
NM_004260.4(RECQL4):c.1870G>A (p.Val624Ile) rs375100228 0.00024
NM_004380.3(CREBBP):c.4251C>T (p.Tyr1417=) rs61731412 0.00024
NM_012330.4(KAT6B):c.4611C>T (p.Ile1537=) rs371945178 0.00024
NM_012330.4(KAT6B):c.5355C>T (p.Pro1785=) rs138711901 0.00024
NM_017617.5(NOTCH1):c.1950C>T (p.Cys650=) rs147086700 0.00024
NM_017617.5(NOTCH1):c.3114C>T (p.Asp1038=) rs769755236 0.00024
NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu) rs375897519 0.00024
NM_017617.5(NOTCH1):c.879C>T (p.Thr293=) rs370170212 0.00024
NM_020436.5(SALL4):c.2664C>T (p.His888=) rs11698418 0.00024
NM_022039.4(FBXW4):c.1235+13T>G rs193073481 0.00024
NM_052989.3(IFT122):c.3533G>A (p.Arg1178His) rs149029829 0.00024
NM_147127.5(EVC2):c.2898G>A (p.Ser966=) rs150055324 0.00024
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr) rs149537641 0.00024
NM_000141.5(FGFR2):c.64C>T (p.Arg22Trp) rs377570596 0.00023
NM_001271938.2(MEGF8):c.8373C>T (p.Pro2791=) rs374532854 0.00023
NM_001374353.1(GLI2):c.243C>T (p.His81=) rs147403076 0.00023
NM_003036.4(SKI):c.2183C>T (p.Pro728Leu) rs372950890 0.00023
NM_003611.3(OFD1):c.2260+12G>A rs375507459 0.00023
NM_004260.4(RECQL4):c.1219G>A (p.Glu407Lys) rs117670586 0.00023
NM_004260.4(RECQL4):c.337C>A (p.Leu113Met) rs370011366 0.00023
NM_017617.5(NOTCH1):c.2349C>T (p.Phe783=) rs200092299 0.00023
NM_017617.5(NOTCH1):c.6898G>A (p.Gly2300Arg) rs587778573 0.00023
NM_017617.5(NOTCH1):c.6975T>C (p.Pro2325=) rs200814776 0.00023
NM_022458.4(LMBR1):c.462T>G (p.Leu154=) rs765231166 0.00023
NM_153717.3(EVC):c.174+16A>G rs1049950431 0.00023
NM_001271938.2(MEGF8):c.8133G>A (p.Pro2711=) rs370578585 0.00022
NM_001384732.1(CPLANE1):c.9579+7A>G rs369166609 0.00022
NM_001429.4(EP300):c.2110C>T (p.Pro704Ser) rs149858781 0.00022
NM_001429.4(EP300):c.444G>A (p.Thr148=) rs376779611 0.00022
NM_006494.4(ERF):c.264C>T (p.Tyr88=) rs140522983 0.00022
NM_015631.6(TCTN3):c.1096-14C>A rs41291568 0.00022
NM_017617.5(NOTCH1):c.1956G>A (p.Ser652=) rs376101458 0.00022
NM_017617.5(NOTCH1):c.3198G>A (p.Ser1066=) rs199892488 0.00022
NM_153717.3(EVC):c.442T>C (p.Leu148=) rs139931919 0.00022
NM_001174147.2(LMX1B):c.*13C>T rs375458623 0.00021
NM_001278689.2(EOGT):c.516-9A>G rs374408350 0.00021
NM_001374353.1(GLI2):c.1106T>C (p.Val369Ala) rs377454502 0.00021
NM_001374353.1(GLI2):c.2007G>A (p.Thr669=) rs138592005 0.00021
NM_001384732.1(CPLANE1):c.5820+8A>G rs181096718 0.00021
NM_004380.3(CREBBP):c.4560+14A>G rs200934101 0.00021
NM_012330.4(KAT6B):c.1025T>C (p.Ile342Thr) rs182392778 0.00021
NM_012330.4(KAT6B):c.4211G>A (p.Arg1404His) rs563033366 0.00021
NM_017617.5(NOTCH1):c.2970-9C>T rs568052902 0.00021
NM_017617.5(NOTCH1):c.5604C>T (p.Asp1868=) rs370916730 0.00021
NM_017617.5(NOTCH1):c.6685G>A (p.Val2229Met) rs202096917 0.00021
NM_017617.5(NOTCH1):c.7298T>C (p.Phe2433Ser) rs201493851 0.00021
NM_017617.5(NOTCH1):c.7387G>A (p.Ala2463Thr) rs537210445 0.00021
NM_020436.5(SALL4):c.447G>A (p.Ala149=) rs147838161 0.00021
NM_022039.4(FBXW4):c.755T>C (p.Val252Ala) rs143070839 0.00021
NM_023110.3(FGFR1):c.168G>A (p.Arg56=) rs147482922 0.00021
NM_052989.3(IFT122):c.1380C>T (p.Ser460=) rs142641511 0.00021
NM_052989.3(IFT122):c.1525G>A (p.Val509Ile) rs368750069 0.00021
NM_052989.3(IFT122):c.1533G>A (p.Leu511=) rs183614690 0.00021
NM_052989.3(IFT122):c.531G>A (p.Ser177=) rs150496357 0.00021
NM_147127.5(EVC2):c.894C>T (p.His298=) rs143027693 0.00021
NM_001039958.2(MESP2):c.355C>T (p.Leu119=) rs373605220 0.00020
NM_001271938.2(MEGF8):c.740-6C>T rs372546741 0.00020
NM_001374353.1(GLI2):c.2502C>T (p.Ser834=) rs765818439 0.00020
NM_001374353.1(GLI2):c.4506C>T (p.Gly1502=) rs200499325 0.00020
NM_001379081.2(FREM1):c.4941C>T (p.Tyr1647=) rs373880888 0.00020
NM_004247.4(EFTUD2):c.106-17C>T rs190562796 0.00020
NM_017617.5(NOTCH1):c.1787C>T (p.Thr596Met) rs61755997 0.00020
NM_017617.5(NOTCH1):c.2433C>T (p.Ala811=) rs61751552 0.00020
NM_017617.5(NOTCH1):c.3325+11G>A rs373779257 0.00020
NM_017617.5(NOTCH1):c.7090A>G (p.Ser2364Gly) rs201045092 0.00020
NM_052989.3(IFT122):c.2424G>C (p.Leu808=) rs148188237 0.00020
NM_001102564.3(IFT43):c.16G>C (p.Asp6His) rs201966792 0.00019
NM_001271938.2(MEGF8):c.5492C>T (p.Ser1831Leu) rs139959427 0.00019
NM_001271938.2(MEGF8):c.6765C>T (p.Cys2255=) rs145630132 0.00019
NM_001374353.1(GLI2):c.2855C>G (p.Ala952Gly) rs1260890491 0.00019
NM_001374353.1(GLI2):c.637G>A (p.Val213Met) rs202139687 0.00019
NM_001384732.1(CPLANE1):c.82-14G>A rs180804052 0.00019
NM_003036.4(SKI):c.2174A>C (p.Glu725Ala) rs747798210 0.00019
NM_004260.4(RECQL4):c.1864C>T (p.Leu622=) rs373717016 0.00019
NM_004260.4(RECQL4):c.1878+19G>A rs750898692 0.00019
NM_004380.3(CREBBP):c.1399G>A (p.Ala467Thr) rs202225861 0.00019
NM_004380.3(CREBBP):c.5991C>T (p.Pro1997=) rs201101808 0.00019
NM_004380.3(CREBBP):c.905G>A (p.Ser302Asn) rs200154055 0.00019
NM_012330.4(KAT6B):c.1512C>A (p.Ser504Arg) rs769903041 0.00019
NM_012330.4(KAT6B):c.3828G>A (p.Pro1276=) rs141935235 0.00019
NM_017617.5(NOTCH1):c.2037C>T (p.Ile679=) rs367591933 0.00019
NM_017617.5(NOTCH1):c.2353+13C>T rs200756000 0.00019
NM_017617.5(NOTCH1):c.383G>A (p.Arg128His) rs754086897 0.00019
NM_017617.5(NOTCH1):c.5384+14G>A rs755122664 0.00019
NM_017617.5(NOTCH1):c.6082+10C>T rs114120958 0.00019
NM_017617.5(NOTCH1):c.6733G>A (p.Gly2245Arg) rs201613894 0.00019
NM_020779.4(WDR35):c.2456A>G (p.Glu819Gly) rs139352103 0.00019
NM_025132.4(WDR19):c.1595T>C (p.Ile532Thr) rs749672769 0.00019
NM_147127.5(EVC2):c.2958C>T (p.Thr986=) rs567792423 0.00019
NM_153717.3(EVC):c.617+17A>G rs113726930 0.00019
NM_181486.4(TBX5):c.68C>A (p.Pro23His) rs141609745 0.00019
NM_001429.4(EP300):c.7177C>G (p.Leu2393Val) rs377508897 0.00018
NM_003722.5(TP63):c.1599C>T (p.Ser533=) rs758093495 0.00018
NM_005105.5(RBM8A):c.342+19T>C rs200836721 0.00018
NM_017617.5(NOTCH1):c.2218G>A (p.Asp740Asn) rs200816814 0.00018
NM_017617.5(NOTCH1):c.3644-5C>T rs371070297 0.00018
NM_020436.5(SALL4):c.3096T>C (p.Ala1032=) rs370319434 0.00018
NM_203486.3(DLL3):c.*38A>G rs200982994 0.00018
NM_001006657.2(WDR35):c.1203C>T (p.Asn401=) rs142103808 0.00017
NM_001271938.2(MEGF8):c.5937G>A (p.Arg1979=) rs200310970 0.00017
NM_001374353.1(GLI2):c.132G>A (p.Ala44=) rs145778937 0.00017
NM_004260.4(RECQL4):c.918G>A (p.Gln306=) rs556744473 0.00017
NM_004380.3(CREBBP):c.6165C>T (p.Ser2055=) rs368704484 0.00017
NM_004380.3(CREBBP):c.6340G>A (p.Gly2114Ser) rs139169188 0.00017
NM_012330.4(KAT6B):c.2448G>A (p.Thr816=) rs372149429 0.00017
NM_015631.6(TCTN3):c.537T>C (p.Asn179=) rs141346992 0.00017
NM_017617.5(NOTCH1):c.1903+14C>T rs370541870 0.00017
NM_017617.5(NOTCH1):c.2427C>T (p.Asp809=) rs775162462 0.00017
NM_017617.5(NOTCH1):c.454G>A (p.Gly152Ser) rs750242131 0.00017
NM_001039958.2(MESP2):c.183C>T (p.Ser61=) rs753168674 0.00016
NM_001102564.3(IFT43):c.395A>T (p.Tyr132Phe) rs201692401 0.00016
NM_001174147.2(LMX1B):c.1152C>T (p.Arg384=) rs146476348 0.00016
NM_001271938.2(MEGF8):c.5559G>A (p.Leu1853=) rs36016565 0.00016
NM_001374353.1(GLI2):c.189G>A (p.Pro63=) rs200471311 0.00016
NM_001429.4(EP300):c.2765C>T (p.Ala922Val) rs150389014 0.00016
NM_001429.4(EP300):c.4026G>A (p.Arg1342=) rs146119145 0.00016
NM_001429.4(EP300):c.4752A>G (p.Leu1584=) rs146147293 0.00016
NM_001429.4(EP300):c.513G>A (p.Ala171=) rs146041458 0.00016
NM_001429.4(EP300):c.5711A>C (p.Gln1904Pro) rs140187237 0.00016
NM_001429.4(EP300):c.6684G>A (p.Gln2228=) rs148504625 0.00016
NM_001429.4(EP300):c.7161T>C (p.Gly2387=) rs143148170 0.00016
NM_001793.6(CDH3):c.*142C>T rs571959258 0.00016
NM_003036.4(SKI):c.42C>T (p.His14=) rs543603037 0.00016
NM_003036.4(SKI):c.799C>T (p.Leu267=) rs140178396 0.00016
NM_004260.4(RECQL4):c.1391-4G>T rs190388213 0.00016
NM_004260.4(RECQL4):c.1581G>A (p.Thr527=) rs367559988 0.00016
NM_004260.4(RECQL4):c.1684C>T (p.Arg562Trp) rs61759892 0.00016
NM_004260.4(RECQL4):c.1821C>T (p.Ala607=) rs369178106 0.00016
NM_004260.4(RECQL4):c.2031C>T (p.Ser677=) rs749542193 0.00016
NM_004260.4(RECQL4):c.2503G>A (p.Asp835Asn) rs373187237 0.00016
NM_004380.3(CREBBP):c.6138G>A (p.Ala2046=) rs371656213 0.00016
NM_005515.4(MNX1):c.483C>T (p.His161=) rs1171559580 0.00016
NM_012330.4(KAT6B):c.3028C>T (p.Arg1010Trp) rs142309185 0.00016
NM_012330.4(KAT6B):c.5922G>A (p.Ala1974=) rs780751688 0.00016
NM_012330.4(KAT6B):c.6048G>A (p.Thr2016=) rs116978399 0.00016
NM_016277.5(RAB23):c.552G>A (p.Thr184=) rs201731610 0.00016
NM_017617.5(NOTCH1):c.2148G>A (p.Glu716=) rs376468003 0.00016
NM_017617.5(NOTCH1):c.2718C>T (p.Thr906=) rs200243788 0.00016
NM_017617.5(NOTCH1):c.3011C>T (p.Ser1004Leu) rs201163739 0.00016
NM_017617.5(NOTCH1):c.3288G>C (p.Val1096=) rs374944458 0.00016
NM_017617.5(NOTCH1):c.4866C>T (p.Arg1622=) rs772314400 0.00016
NM_021224.6(ZNF462):c.5206A>G (p.Ile1736Val) rs192125496 0.00016
NM_147127.5(EVC2):c.588G>A (p.Ser196=) rs566778000 0.00016
NM_147127.5(EVC2):c.615G>A (p.Leu205=) rs140864640 0.00016
NM_147127.5(EVC2):c.984A>T (p.Gly328=) rs1023236102 0.00016
NM_153717.3(EVC):c.1536C>T (p.Ala512=) rs368554773 0.00016
NM_153717.3(EVC):c.702+16C>T rs180960931 0.00016
NM_001271938.2(MEGF8):c.2987+11del rs755747202 0.00015
NM_001271938.2(MEGF8):c.4434C>T (p.Pro1478=) rs371090576 0.00015
NM_001374353.1(GLI2):c.845+10G>A rs199673018 0.00015
NM_001429.4(EP300):c.5604G>A (p.Thr1868=) rs200795114 0.00015
NM_001429.4(EP300):c.6289C>G (p.Pro2097Ala) rs200189212 0.00015
NM_003611.3(OFD1):c.2235C>T (p.Ser745=) rs372503752 0.00015
NM_004260.4(RECQL4):c.1115G>C (p.Arg372Thr) rs200097701 0.00015
NM_004260.4(RECQL4):c.1237G>A (p.Ala413Thr) rs531310005 0.00015
NM_004260.4(RECQL4):c.2748G>A (p.Pro916=) rs370679924 0.00015
NM_004260.4(RECQL4):c.3236+16G>A rs369630024 0.00015
NM_004380.3(CREBBP):c.2846C>T (p.Pro949Leu) rs147083140 0.00015
NM_004380.3(CREBBP):c.5874G>C (p.Ala1958=) rs373950003 0.00015
NM_004380.3(CREBBP):c.833A>C (p.Gln278Pro) rs577305576 0.00015
NM_012330.4(KAT6B):c.1689G>A (p.Pro563=) rs139737811 0.00015
NM_017617.5(NOTCH1):c.2353+14G>A rs140288481 0.00015
NM_017617.5(NOTCH1):c.4988G>A (p.Arg1663Gln) rs749490844 0.00015
NM_017617.5(NOTCH1):c.591C>T (p.Asn197=) rs370684825 0.00015
NM_017617.5(NOTCH1):c.6180+9G>A rs200371378 0.00015
NM_023110.3(FGFR1):c.1082-13C>T rs185831613 0.00015
NM_052989.3(IFT122):c.1821C>A (p.Val607=) rs141632773 0.00015
NM_052989.3(IFT122):c.3027C>T (p.Leu1009=) rs373152133 0.00015
NM_147127.5(EVC2):c.3174G>A (p.Leu1058=) rs555652075 0.00015
NM_153717.3(EVC):c.105C>A (p.Gly35=) rs745558003 0.00015
NM_001271938.2(MEGF8):c.2537C>T (p.Ser846Leu) rs148207079 0.00014
NM_001271938.2(MEGF8):c.4752G>C (p.Leu1584=) rs541175277 0.00014
NM_001271938.2(MEGF8):c.5343+9T>G rs374168560 0.00014
NM_001278689.2(EOGT):c.591A>G (p.Glu197=) rs576952007 0.00014
NM_001286577.2(C2CD3):c.5726T>C (p.Leu1909Pro) rs138354490 0.00014
NM_001286577.2(C2CD3):c.5728C>G (p.Pro1910Ala) rs150116588 0.00014
NM_001374353.1(GLI2):c.1905+7G>A rs372198430 0.00014
NM_001374353.1(GLI2):c.9G>A (p.Thr3=) rs199524680 0.00014
NM_001384732.1(CPLANE1):c.420T>C (p.Leu140=) rs1056117590 0.00014
NM_001429.4(EP300):c.5361C>T (p.Ala1787=) rs200552141 0.00014
NM_004260.4(RECQL4):c.2070G>A (p.Thr690=) rs779945948 0.00014
NM_004260.4(RECQL4):c.2112C>T (p.Ile704=) rs368140492 0.00014
NM_004260.4(RECQL4):c.3573C>T (p.Ser1191=) rs199885535 0.00014
NM_004260.4(RECQL4):c.69G>A (p.Gly23=) rs1034662952 0.00014
NM_004380.3(CREBBP):c.3841G>A (p.Val1281Ile) rs201874248 0.00014
NM_006766.5(KAT6A):c.600+5G>T rs138578452 0.00014
NM_012330.4(KAT6B):c.1994-20C>T rs373239366 0.00014
NM_012330.4(KAT6B):c.2833C>T (p.Leu945Phe) rs200018142 0.00014
NM_012330.4(KAT6B):c.4659C>T (p.Ser1553=) rs147158118 0.00014
NM_017617.5(NOTCH1):c.1670-19C>T rs377686947 0.00014
NM_017617.5(NOTCH1):c.1914C>T (p.Cys638=) rs373068883 0.00014
NM_017617.5(NOTCH1):c.2085C>T (p.Asp695=) rs200573958 0.00014
NM_017617.5(NOTCH1):c.2354-5T>C rs371944522 0.00014
NM_017617.5(NOTCH1):c.3597C>T (p.Leu1199=) rs150666307 0.00014
NM_017617.5(NOTCH1):c.45C>G (p.Pro15=) rs764936481 0.00014
NM_017617.5(NOTCH1):c.4905C>T (p.Ala1635=) rs751446074 0.00014
NM_017617.5(NOTCH1):c.631A>G (p.Thr211Ala) rs376902925 0.00014
NM_017617.5(NOTCH1):c.6376G>A (p.Gly2126Arg) rs572960572 0.00014
NM_017617.5(NOTCH1):c.6509G>A (p.Ser2170Asn) rs200254239 0.00014
NM_020779.4(WDR35):c.3252G>A (p.Glu1084=) rs182360785 0.00014
NM_023110.3(FGFR1):c.1386G>A (p.Glu462=) rs375796487 0.00014
NM_023110.3(FGFR1):c.2298C>T (p.Tyr766=) rs376173540 0.00014
NM_025132.4(WDR19):c.3435C>T (p.Ser1145=) rs200659514 0.00014
NM_052989.3(IFT122):c.1139A>G (p.Glu380Gly) rs755060067 0.00014
NM_052989.3(IFT122):c.2577G>A (p.Glu859=) rs201077232 0.00014
NM_052989.3(IFT122):c.2715C>T (p.Ala905=) rs143748879 0.00014
NM_147127.5(EVC2):c.3483G>A (p.Ser1161=) rs374038474 0.00014
NM_153717.3(EVC):c.1818A>C (p.Thr606=) rs202093497 0.00014
NM_153717.3(EVC):c.2098-10T>C rs774109576 0.00014
NM_153717.3(EVC):c.702+17G>T rs559719173 0.00014
NM_001039958.2(MESP2):c.306C>A (p.His102Gln) rs77473319 0.00013
NM_001271938.2(MEGF8):c.1933+10C>T rs763206386 0.00013
NM_001271938.2(MEGF8):c.3310C>T (p.Arg1104Trp) rs370522595 0.00013
NM_001271938.2(MEGF8):c.351+10G>A rs374212597 0.00013
NM_001271938.2(MEGF8):c.7875C>T (p.Pro2625=) rs572813671 0.00013
NM_001374353.1(GLI2):c.1497C>A (p.Arg499=) rs542656225 0.00013
NM_001374353.1(GLI2):c.4014A>G (p.Gln1338=) rs374113689 0.00013
NM_001374353.1(GLI2):c.4293C>T (p.Tyr1431=) rs374166743 0.00013
NM_001374353.1(GLI2):c.563C>T (p.Ala188Val) rs147419287 0.00013
NM_001429.4(EP300):c.1539T>C (p.Pro513=) rs377140865 0.00013
NM_001429.4(EP300):c.2242-14T>G rs760859922 0.00013
NM_003036.4(SKI):c.640A>G (p.Ser214Gly) rs139179843 0.00013
NM_004260.4(RECQL4):c.1345A>C (p.Thr449Pro) rs535692036 0.00013
NM_004260.4(RECQL4):c.2082C>T (p.Gly694=) rs767210998 0.00013
NM_004380.3(CREBBP):c.3089C>T (p.Ser1030Phe) rs757051244 0.00013
NM_004380.3(CREBBP):c.4280+8T>C rs376814421 0.00013
NM_004380.3(CREBBP):c.5776C>G (p.Arg1926Gly) rs778915687 0.00013
NM_004380.3(CREBBP):c.6656C>T (p.Ala2219Val) rs150461438 0.00013
NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val) rs369067940 0.00013
NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys) rs75602337 0.00013
NM_020779.4(WDR35):c.3349A>G (p.Ser1117Gly) rs369515554 0.00013
NM_023110.3(FGFR1):c.241A>G (p.Ile81Val) rs201574031 0.00013
NM_052989.3(IFT122):c.1383A>G (p.Gly461=) rs147887396 0.00013
NM_147127.5(EVC2):c.284-17G>A rs201654752 0.00013
NM_153717.3(EVC):c.175-10C>T rs113406354 0.00013
NM_000141.5(FGFR2):c.1774C>T (p.Arg592Cys) rs141929882 0.00012
NM_000141.5(FGFR2):c.748+18C>T rs377269009 0.00012
NM_001040167.2(LFNG):c.672C>T (p.Tyr224=) rs151012354 0.00012
NM_001271938.2(MEGF8):c.7047C>T (p.Ala2349=) rs369359832 0.00012
NM_001374353.1(GLI2):c.2886G>A (p.Leu962=) rs777165274 0.00012
NM_001384732.1(CPLANE1):c.834+15G>A rs373984590 0.00012
NM_001429.4(EP300):c.2645C>G (p.Pro882Arg) rs772707021 0.00012
NM_001429.4(EP300):c.2787A>G (p.Ala929=) rs143690368 0.00012
NM_001429.4(EP300):c.448T>C (p.Ser150Pro) rs138241570 0.00012
NM_003036.4(SKI):c.1315G>A (p.Val439Ile) rs575093513 0.00012
NM_004260.4(RECQL4):c.2757C>T (p.Ala919=) rs374692233 0.00012
NM_004380.3(CREBBP):c.2526G>A (p.Gln842=) rs141775567 0.00012
NM_015631.6(TCTN3):c.1575G>A (p.Gln525=) rs768137956 0.00012
NM_015631.6(TCTN3):c.159G>A (p.Ala53=) rs540555381 0.00012
NM_017617.5(NOTCH1):c.1099+20G>A rs376139196 0.00012
NM_017617.5(NOTCH1):c.1146C>T (p.Asn382=) rs368665838 0.00012
NM_017617.5(NOTCH1):c.2805C>T (p.Pro935=) rs200332386 0.00012
NM_017617.5(NOTCH1):c.2982C>T (p.Asn994=) rs374100421 0.00012
NM_017617.5(NOTCH1):c.4179C>T (p.Gly1393=) rs200664704 0.00012
NM_017617.5(NOTCH1):c.5015G>A (p.Arg1672His) rs372830543 0.00012
NM_017617.5(NOTCH1):c.5472+9C>T rs200788026 0.00012
NM_017617.5(NOTCH1):c.5676G>A (p.Gly1892=) rs763584589 0.00012
NM_017617.5(NOTCH1):c.6568C>T (p.Leu2190=) rs1037034230 0.00012
NM_023110.3(FGFR1):c.2186+8C>T rs372639138 0.00012
NM_147127.5(EVC2):c.450+17A>G rs370958428 0.00012
NM_153717.3(EVC):c.2583G>A (p.Arg861=) rs145317746 0.00012
NM_170707.4(LMNA):c.811-12C>T rs372962650 0.00012
NM_203486.3(DLL3):c.870+12C>G rs180859782 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_001040167.2(LFNG):c.653C>T (p.Pro218Leu) rs148460430 0.00011
NM_001174147.2(LMX1B):c.549G>A (p.Glu183=) rs775705878 0.00011
NM_001271938.2(MEGF8):c.3798C>T (p.Arg1266=) rs750232469 0.00011
NM_001271938.2(MEGF8):c.4662G>A (p.Ala1554=) rs759312023 0.00011
NM_001278689.2(EOGT):c.300C>T (p.Val100=) rs371677485 0.00011
NM_001361.5(DHODH):c.*14C>T rs370049658 0.00011
NM_001374353.1(GLI2):c.1587C>T (p.Asn529=) rs767400136 0.00011
NM_001374353.1(GLI2):c.2458G>A (p.Glu820Lys) rs193090538 0.00011
NM_001429.4(EP300):c.157T>C (p.Leu53=) rs147566983 0.00011
NM_001429.4(EP300):c.2351C>T (p.Pro784Leu) rs201480900 0.00011
NM_001429.4(EP300):c.2352G>A (p.Pro784=) rs140684440 0.00011
NM_002734.5(PRKAR1A):c.381T>C (p.Ala127=) rs372669687 0.00011
NM_003036.4(SKI):c.105G>A (p.Pro35=) rs778180778 0.00011
NM_003036.4(SKI):c.1309G>A (p.Ala437Thr) rs544709718 0.00011
NM_003036.4(SKI):c.1329C>T (p.Pro443=) rs150033567 0.00011
NM_003036.4(SKI):c.1632C>T (p.His544=) rs373914574 0.00011
NM_003036.4(SKI):c.970-5C>T rs755318392 0.00011
NM_003611.3(OFD1):c.795G>A (p.Lys265=) rs745443262 0.00011
NM_003722.5(TP63):c.1575C>T (p.Leu525=) rs147389337 0.00011
NM_003722.5(TP63):c.699A>G (p.Lys233=) rs199727371 0.00011
NM_004260.4(RECQL4):c.2670C>T (p.Ala890=) rs780935988 0.00011
NM_004260.4(RECQL4):c.2769G>A (p.Leu923=) rs368618566 0.00011
NM_004260.4(RECQL4):c.3162C>T (p.Phe1054=) rs373372297 0.00011
NM_012330.4(KAT6B):c.5679G>A (p.Pro1893=) rs370977553 0.00011
NM_015631.6(TCTN3):c.1452+16T>C rs779934498 0.00011
NM_017617.5(NOTCH1):c.1116C>G (p.Leu372=) rs372623058 0.00011
NM_017617.5(NOTCH1):c.2863C>T (p.Arg955Cys) rs370797169 0.00011
NM_017617.5(NOTCH1):c.4015-10T>C rs989085577 0.00011
NM_017617.5(NOTCH1):c.5273G>A (p.Arg1758His) rs373841359 0.00011
NM_017617.5(NOTCH1):c.5301C>T (p.Leu1767=) rs372154581 0.00011
NM_017617.5(NOTCH1):c.6057C>T (p.Ala2019=) rs758702512 0.00011
NM_017617.5(NOTCH1):c.6938G>A (p.Arg2313Gln) rs371069660 0.00011
NM_017617.5(NOTCH1):c.7400C>T (p.Ser2467Leu) rs375025242 0.00011
NM_020436.5(SALL4):c.1020C>T (p.Gly340=) rs142790611 0.00011
NM_023110.3(FGFR1):c.394G>A (p.Asp132Asn) rs562958780 0.00011
NM_023110.3(FGFR1):c.92-13G>A rs373032952 0.00011
NM_025132.4(WDR19):c.1797T>G (p.Ala599=) rs373430338 0.00011
NM_025132.4(WDR19):c.3027C>T (p.Asp1009=) rs181975379 0.00011
NM_025132.4(WDR19):c.6+5A>G rs201198839 0.00011
NM_052989.3(IFT122):c.2987+15A>G rs373111458 0.00011
NM_052989.3(IFT122):c.416+12T>C rs141969308 0.00011
NM_147127.5(EVC2):c.3858C>T (p.His1286=) rs368103321 0.00011
NM_153717.3(EVC):c.1707G>C (p.Leu569=) rs575586341 0.00011
NM_153717.3(EVC):c.540G>A (p.Ser180=) rs200120462 0.00011
NM_153717.3(EVC):c.690G>A (p.Gln230=) rs563481672 0.00011
NM_153717.3(EVC):c.77C>T (p.Ala26Val) rs1035520087 0.00011
NM_153717.3(EVC):c.982C>T (p.Leu328Phe) rs199916502 0.00011
NM_000141.5(FGFR2):c.454+15G>A rs200275522 0.00010
NM_000522.5(HOXA13):c.46G>A (p.Val16Ile) rs200676634 0.00010
NM_001040167.2(LFNG):c.546C>T (p.Ala182=) rs369411514 0.00010
NM_001174147.2(LMX1B):c.570G>A (p.Glu190=) rs536687637 0.00010
NM_001271938.2(MEGF8):c.6469G>A (p.Gly2157Ser) rs549617171 0.00010
NM_001271938.2(MEGF8):c.8367C>T (p.Gly2789=) rs764014679 0.00010
NM_001374353.1(GLI2):c.1760A>C (p.His587Pro) rs756664261 0.00010
NM_001374353.1(GLI2):c.845+14G>A rs370294059 0.00010
NM_001384732.1(CPLANE1):c.5195A>G (p.Asp1732Gly) rs756274300 0.00010
NM_001429.4(EP300):c.2668A>C (p.Thr890Pro) rs577396026 0.00010
NM_001429.4(EP300):c.3143-7T>G rs778277906 0.00010
NM_001429.4(EP300):c.5454G>C (p.Leu1818=) rs148026063 0.00010
NM_001429.4(EP300):c.6311C>G (p.Pro2104Arg) rs138584705 0.00010
NM_001429.4(EP300):c.7017C>T (p.His2339=) rs759571982 0.00010
NM_001429.4(EP300):c.7167C>T (p.Ser2389=) rs150845823 0.00010
NM_003036.4(SKI):c.2141G>A (p.Arg714His) rs754486257 0.00010
NM_003611.3(OFD1):c.2928+18A>G rs756838502 0.00010
NM_004260.4(RECQL4):c.1132-8C>A rs370660188 0.00010
NM_004260.4(RECQL4):c.1483+13G>A rs758586322 0.00010
NM_004260.4(RECQL4):c.1596C>T (p.Pro532=) rs767538015 0.00010
NM_004260.4(RECQL4):c.3132C>T (p.Thr1044=) rs373238823 0.00010
NM_004260.4(RECQL4):c.3236+18G>A rs761871401 0.00010
NM_004260.4(RECQL4):c.3384G>C (p.Gly1128=) rs376559433 0.00010
NM_004380.3(CREBBP):c.5271C>T (p.Gly1757=) rs190121951 0.00010
NM_005515.4(MNX1):c.528G>A (p.Ala176=) rs752182988 0.00010
NM_012330.4(KAT6B):c.3337T>C (p.Leu1113=) rs751986009 0.00010
NM_012330.4(KAT6B):c.3410G>A (p.Arg1137His) rs143090869 0.00010
NM_012330.4(KAT6B):c.5368G>A (p.Ala1790Thr) rs766117254 0.00010
NM_012330.4(KAT6B):c.699A>G (p.Glu233=) rs188787788 0.00010
NM_015631.6(TCTN3):c.1299-11T>C rs532774999 0.00010
NM_015631.6(TCTN3):c.1569A>G (p.Leu523=) rs201367852 0.00010
NM_016277.5(RAB23):c.675G>A (p.Lys225=) rs781622209 0.00010
NM_017617.5(NOTCH1):c.1295C>T (p.Thr432Met) rs200562991 0.00010
NM_017617.5(NOTCH1):c.153C>T (p.Ala51=) rs748048002 0.00010
NM_017617.5(NOTCH1):c.1555+16G>A rs368798926 0.00010
NM_017617.5(NOTCH1):c.1670-18G>A rs375041394 0.00010
NM_017617.5(NOTCH1):c.1698C>T (p.Asp566=) rs541992446 0.00010
NM_017617.5(NOTCH1):c.2740+14C>T rs375880798 0.00010
NM_017617.5(NOTCH1):c.2969+14G>A rs112192550 0.00010
NM_017617.5(NOTCH1):c.3771G>A (p.Pro1257=) rs536479643 0.00010
NM_017617.5(NOTCH1):c.390G>A (p.Pro130=) rs61751559 0.00010
NM_017617.5(NOTCH1):c.4096G>A (p.Gly1366Ser) rs778270588 0.00010
NM_017617.5(NOTCH1):c.4458C>G (p.Pro1486=) rs747236263 0.00010
NM_017617.5(NOTCH1):c.5631C>T (p.Arg1877=) rs35627681 0.00010
NM_017617.5(NOTCH1):c.6744C>T (p.Asn2248=) rs372771288 0.00010
NM_017617.5(NOTCH1):c.695C>A (p.Thr232Asn) rs869025493 0.00010
NM_023110.3(FGFR1):c.*14G>A rs371776128 0.00010
NM_023110.3(FGFR1):c.1409G>T (p.Arg470Leu) rs121909637 0.00010
NM_023110.3(FGFR1):c.2331C>G (p.Ser777=) rs763571736 0.00010
NM_147127.5(EVC2):c.2340C>T (p.His780=) rs150691722 0.00010
NM_001039958.2(MESP2):c.168T>G (p.Pro56=) rs894593728 0.00009
NM_001040167.2(LFNG):c.480G>A (p.Thr160=) rs151053753 0.00009
NM_001040167.2(LFNG):c.581+9G>T rs202046384 0.00009
NM_001174147.2(LMX1B):c.*2739C>A rs145602359 0.00009
NM_001271938.2(MEGF8):c.2436G>A (p.Ser812=) rs199938628 0.00009
NM_001271938.2(MEGF8):c.2649T>C (p.Asp883=) rs757551016 0.00009
NM_001271938.2(MEGF8):c.6570C>T (p.Asn2190=) rs767893103 0.00009
NM_001271938.2(MEGF8):c.7407G>A (p.Ala2469=) rs111595088 0.00009
NM_001271938.2(MEGF8):c.8169C>T (p.Pro2723=) rs138179740 0.00009
NM_001278689.2(EOGT):c.421-7C>T rs770810315 0.00009
NM_001374353.1(GLI2):c.1577C>G (p.Ala526Gly) rs201279367 0.00009
NM_001374353.1(GLI2):c.252C>T (p.His84=) rs201412339 0.00009
NM_001374353.1(GLI2):c.4678G>A (p.Glu1560Lys) rs770936696 0.00009
NM_001374353.1(GLI2):c.78C>T (p.Pro26=) rs373668718 0.00009
NM_001429.4(EP300):c.1572G>A (p.Thr524=) rs746398873 0.00009
NM_001429.4(EP300):c.3591-6C>T rs368437789 0.00009
NM_001429.4(EP300):c.586A>G (p.Ile196Val) rs148693910 0.00009
NM_001429.4(EP300):c.6315C>T (p.Gly2105=) rs528866215 0.00009
NM_001957.4(EDNRA):c.354G>A (p.Leu118=) rs201702493 0.00009
NM_002734.5(PRKAR1A):c.103A>G (p.Ile35Val) rs377513504 0.00009
NM_002734.5(PRKAR1A):c.502+12_502+13del rs764075585 0.00009
NM_003036.4(SKI):c.1164G>A (p.Ala388=) rs780171614 0.00009
NM_003036.4(SKI):c.1269G>A (p.Pro423=) rs375600617 0.00009
NM_003036.4(SKI):c.1568C>T (p.Ser523Leu) rs730880212 0.00009
NM_003036.4(SKI):c.897C>T (p.Arg299=) rs773901705 0.00009
NM_003611.3(OFD1):c.1271A>G (p.Asn424Ser) rs532274932 0.00009
NM_003722.5(TP63):c.84T>G (p.His28Gln) rs370716448 0.00009
NM_004260.4(RECQL4):c.1485C>T (p.Gly495=) rs773682937 0.00009
NM_004260.4(RECQL4):c.1705-11G>A rs777872717 0.00009
NM_004260.4(RECQL4):c.2118C>T (p.Tyr706=) rs574326650 0.00009
NM_004260.4(RECQL4):c.2538A>G (p.Val846=) rs746303718 0.00009
NM_004260.4(RECQL4):c.385C>T (p.Pro129Ser) rs201542692 0.00009
NM_004260.4(RECQL4):c.681C>T (p.Val227=) rs567959067 0.00009
NM_004260.4(RECQL4):c.865G>A (p.Ala289Thr) rs200382712 0.00009
NM_004380.3(CREBBP):c.1143G>A (p.Ser381=) rs147342740 0.00009
NM_004380.3(CREBBP):c.2118A>G (p.Gly706=) rs778065124 0.00009
NM_004380.3(CREBBP):c.3204C>T (p.Asn1068=) rs150189749 0.00009
NM_004380.3(CREBBP):c.5334G>A (p.Ser1778=) rs201062642 0.00009
NM_004380.3(CREBBP):c.6324C>T (p.Tyr2108=) rs199821421 0.00009
NM_004380.3(CREBBP):c.681T>C (p.Pro227=) rs201193684 0.00009
NM_004380.3(CREBBP):c.7184T>C (p.Ile2395Thr) rs759047530 0.00009
NM_006494.4(ERF):c.1263G>C (p.Pro421=) rs750423382 0.00009
NM_012330.4(KAT6B):c.147A>G (p.Glu49=) rs1041827351 0.00009
NM_012330.4(KAT6B):c.3255A>G (p.Glu1085=) rs933289359 0.00009
NM_012330.4(KAT6B):c.3258A>C (p.Glu1086Asp) rs754680177 0.00009
NM_012330.4(KAT6B):c.3264A>G (p.Glu1088=) rs551589427 0.00009
NM_012330.4(KAT6B):c.3326C>T (p.Ser1109Phe) rs199963389 0.00009
NM_012330.4(KAT6B):c.4760C>T (p.Thr1587Met) rs145636342 0.00009
NM_012330.4(KAT6B):c.5433G>A (p.Pro1811=) rs201084874 0.00009
NM_015631.6(TCTN3):c.576C>T (p.Gly192=) rs143020764 0.00009
NM_016277.5(RAB23):c.594T>G (p.Gly198=) rs151203723 0.00009
NM_017617.5(NOTCH1):c.1904-13G>A rs371069516 0.00009
NM_017617.5(NOTCH1):c.3334G>A (p.Val1112Ile) rs370696201 0.00009
NM_017617.5(NOTCH1):c.3966C>T (p.Cys1322=) rs753290862 0.00009
NM_017617.5(NOTCH1):c.403+17A>T rs544324440 0.00009
NM_017617.5(NOTCH1):c.4296C>T (p.Phe1432=) rs774697636 0.00009
NM_017617.5(NOTCH1):c.4314C>T (p.Arg1438=) rs757256477 0.00009
NM_017617.5(NOTCH1):c.4586+10C>T rs760225110 0.00009
NM_017617.5(NOTCH1):c.4860C>T (p.Tyr1620=) rs375196212 0.00009
NM_017617.5(NOTCH1):c.5018+14G>A rs936227030 0.00009
NM_017617.5(NOTCH1):c.5019-6G>A rs978561896 0.00009
NM_017617.5(NOTCH1):c.6083-5C>T rs199786076 0.00009
NM_017617.5(NOTCH1):c.7645C>T (p.Arg2549Cys) rs200893930 0.00009
NM_020779.4(WDR35):c.1861T>C (p.Ser621Pro) rs199882056 0.00009
NM_020779.4(WDR35):c.725A>G (p.Glu242Gly) rs139543775 0.00009
NM_023110.3(FGFR1):c.1978-8del rs112311314 0.00009
NM_023110.3(FGFR1):c.273C>T (p.Ser91=) rs201823433 0.00009
NM_023110.3(FGFR1):c.415A>G (p.Lys139Glu) rs201054877 0.00009
NM_023110.3(FGFR1):c.69G>A (p.Pro23=) rs369704492 0.00009
NM_023110.3(FGFR1):c.921T>C (p.Tyr307=) rs377010221 0.00009
NM_025132.4(WDR19):c.99-11A>C rs756899296 0.00009
NM_147127.5(EVC2):c.129C>T (p.Gly43=) rs985034372 0.00009
NM_147127.5(EVC2):c.2077G>A (p.Val693Ile) rs199824658 0.00009
NM_147127.5(EVC2):c.2793C>T (p.Leu931=) rs764663533 0.00009
NM_147127.5(EVC2):c.3382C>A (p.Leu1128Met) rs200105743 0.00009
NM_147127.5(EVC2):c.3519C>T (p.Ser1173=) rs749446584 0.00009
NM_147127.5(EVC2):c.3558-6C>T rs527866261 0.00009
NM_147127.5(EVC2):c.765C>T (p.Asn255=) rs139129327 0.00009
NM_147127.5(EVC2):c.817-17C>A rs371482683 0.00009
NM_153717.3(EVC):c.2278C>T (p.Arg760Trp) rs200479973 0.00009
NM_153717.3(EVC):c.759A>G (p.Ser253=) rs201105095 0.00009
NM_181486.4(TBX5):c.147+9A>T rs375693592 0.00009
NM_001039958.2(MESP2):c.18T>A (p.Pro6=) rs529998749 0.00008
NM_001102564.3(IFT43):c.445-15T>C rs745766333 0.00008
NM_001174147.2(LMX1B):c.19C>G (p.Pro7Ala) rs767281663 0.00008
NM_001271938.2(MEGF8):c.3456G>A (p.Pro1152=) rs200838638 0.00008
NM_001271938.2(MEGF8):c.6909C>T (p.His2303=) rs552181649 0.00008
NM_001374353.1(GLI2):c.2987C>G (p.Pro996Arg) rs780303555 0.00008
NM_001429.4(EP300):c.5967G>A (p.Met1989Ile) rs763795718 0.00008
NM_001429.4(EP300):c.6934C>T (p.Pro2312Ser) rs137935821 0.00008
NM_003036.4(SKI):c.1109T>C (p.Val370Ala) rs138088528 0.00008
NM_003036.4(SKI):c.170C>T (p.Ala57Val) rs1389185868 0.00008
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala) rs797045846 0.00008
NM_003722.5(TP63):c.882+19A>T rs200703504 0.00008
NM_004260.4(RECQL4):c.1151G>A (p.Arg384Gln) rs376045624 0.00008
NM_004260.4(RECQL4):c.1548G>A (p.Ala516=) rs377022089 0.00008
NM_004260.4(RECQL4):c.1647G>A (p.Lys549=) rs371972881 0.00008
NM_004260.4(RECQL4):c.165C>T (p.Ala55=) rs548309647 0.00008
NM_004260.4(RECQL4):c.1879-11C>T rs763124561 0.00008
NM_004260.4(RECQL4):c.214-5T>G rs756714677 0.00008
NM_004260.4(RECQL4):c.2394C>T (p.Tyr798=) rs781245845 0.00008
NM_004260.4(RECQL4):c.2637T>A (p.Pro879=) rs909977633 0.00008
NM_004380.3(CREBBP):c.164A>G (p.Asn55Ser) rs587783466 0.00008
NM_004380.3(CREBBP):c.4560+9C>T rs201631062 0.00008
NM_015631.6(TCTN3):c.1695A>G (p.Lys565=) rs370069674 0.00008
NM_017617.5(NOTCH1):c.1870G>A (p.Ala624Thr) rs372771179 0.00008
NM_017617.5(NOTCH1):c.2724C>T (p.Ile908=) rs61751547 0.00008
NM_017617.5(NOTCH1):c.3519C>T (p.Ala1173=) rs765576108 0.00008
NM_017617.5(NOTCH1):c.3768G>A (p.Pro1256=) rs779987984 0.00008
NM_017617.5(NOTCH1):c.4313G>A (p.Arg1438His) rs61751541 0.00008
NM_017617.5(NOTCH1):c.5018+13C>T rs752508890 0.00008
NM_017617.5(NOTCH1):c.516C>T (p.Gly172=) rs377685034 0.00008
NM_017617.5(NOTCH1):c.5224G>T (p.Ala1742Ser) rs760669267 0.00008
NM_017617.5(NOTCH1):c.6083-4G>A rs570242146 0.00008
NM_020436.5(SALL4):c.42G>C (p.Ser14=) rs137903141 0.00008
NM_020779.4(WDR35):c.2109T>G (p.Thr703=) rs201822027 0.00008
NM_023110.3(FGFR1):c.1888C>T (p.Leu630=) rs746123129 0.00008
NM_023110.3(FGFR1):c.211G>T (p.Val71Leu) rs561300213 0.00008
NM_052989.3(IFT122):c.2721G>A (p.Ala907=) rs371570973 0.00008
NM_147127.5(EVC2):c.1041G>A (p.Pro347=) rs778170817 0.00008
NM_147127.5(EVC2):c.2250G>A (p.Glu750=) rs552887116 0.00008
NM_147127.5(EVC2):c.297T>G (p.Leu99=) rs780711879 0.00008
NM_147127.5(EVC2):c.3558-8G>A rs775806827 0.00008
NM_147127.5(EVC2):c.520-6C>T rs747479747 0.00008
NM_153717.3(EVC):c.2102C>T (p.Ala701Val) rs571809727 0.00008
NM_153717.3(EVC):c.2895-4T>C rs775049818 0.00008
NM_181486.4(TBX5):c.1233C>G (p.Thr411=) rs188839350 0.00008
NM_000141.5(FGFR2):c.182G>A (p.Arg61His) rs199575491 0.00007
NM_001040167.2(LFNG):c.402G>T (p.Leu134=) rs534958709 0.00007
NM_001040167.2(LFNG):c.609C>T (p.Asn203=) rs143930715 0.00007
NM_001271938.2(MEGF8):c.2856-4C>G rs749739307 0.00007
NM_001271938.2(MEGF8):c.3761+19C>A rs371147358 0.00007
NM_001271938.2(MEGF8):c.3846C>T (p.Val1282=) rs142473307 0.00007
NM_001271938.2(MEGF8):c.5382G>A (p.Gly1794=) rs905021679 0.00007
NM_001271938.2(MEGF8):c.6426G>A (p.Gly2142=) rs772127120 0.00007
NM_001374353.1(GLI2):c.1875C>T (p.His625=) rs372341303 0.00007
NM_001384732.1(CPLANE1):c.8739C>T (p.Asp2913=) rs376535591 0.00007
NM_001429.4(EP300):c.2245A>G (p.Met749Val) rs370478867 0.00007
NM_001429.4(EP300):c.5832C>T (p.His1944=) rs142885571 0.00007
NM_001429.4(EP300):c.6406A>G (p.Met2136Val) rs372874467 0.00007
NM_002472.3(MYH8):c.479T>A (p.Ile160Asn) rs760980150 0.00007
NM_004260.4(RECQL4):c.1176T>G (p.Gly392=) rs1054027953 0.00007
NM_004260.4(RECQL4):c.2743A>G (p.Met915Val) rs374898583 0.00007
NM_004260.4(RECQL4):c.2949C>T (p.Ser983=) rs751727270 0.00007
NM_004260.4(RECQL4):c.3042C>T (p.His1014=) rs750400159 0.00007
NM_004260.4(RECQL4):c.3236+14G>A rs372380770 0.00007
NM_004260.4(RECQL4):c.3305A>G (p.Asp1102Gly) rs762384825 0.00007
NM_004380.3(CREBBP):c.1633T>C (p.Leu545=) rs371285951 0.00007
NM_004380.3(CREBBP):c.1732C>T (p.Pro578Ser) rs148023511 0.00007
NM_004380.3(CREBBP):c.2439G>A (p.Pro813=) rs763702839 0.00007
NM_004380.3(CREBBP):c.3301C>T (p.Leu1101=) rs766505219 0.00007
NM_004380.3(CREBBP):c.3370-17A>T rs767500889 0.00007
NM_004380.3(CREBBP):c.3982+10G>A rs370093745 0.00007
NM_004380.3(CREBBP):c.5172+19C>G rs371471977 0.00007
NM_004380.3(CREBBP):c.5922G>A (p.Arg1974=) rs202099897 0.00007
NM_004380.3(CREBBP):c.6465T>G (p.Pro2155=) rs746868061 0.00007
NM_004380.3(CREBBP):c.7194A>G (p.Gly2398=) rs773968231 0.00007
NM_004380.3(CREBBP):c.7197C>T (p.His2399=) rs375864984 0.00007
NM_005105.5(RBM8A):c.128-9C>T rs185927426 0.00007
NM_005105.5(RBM8A):c.265A>G (p.Ile89Val) rs201156815 0.00007
NM_012330.4(KAT6B):c.1581T>G (p.Ser527Arg) rs201681469 0.00007
NM_012330.4(KAT6B):c.3477C>G (p.Pro1159=) rs145574734 0.00007
NM_012330.4(KAT6B):c.4077G>A (p.Glu1359=) rs560274634 0.00007
NM_012330.4(KAT6B):c.4478C>T (p.Ala1493Val) rs369068910 0.00007
NM_012330.4(KAT6B):c.4776A>G (p.Gln1592=) rs148492740 0.00007
NM_012330.4(KAT6B):c.504C>T (p.Asp168=) rs576505982 0.00007
NM_017617.5(NOTCH1):c.2014+16C>T rs199814619 0.00007
NM_017617.5(NOTCH1):c.2207+15C>T rs187086513 0.00007
NM_017617.5(NOTCH1):c.2784G>A (p.Thr928=) rs200082362 0.00007
NM_017617.5(NOTCH1):c.3468C>T (p.Asn1156=) rs199793164 0.00007
NM_017617.5(NOTCH1):c.3901+19C>T rs373752718 0.00007
NM_017617.5(NOTCH1):c.4101G>A (p.Pro1367=) rs374921637 0.00007
NM_017617.5(NOTCH1):c.4506C>T (p.Asp1502=) rs751191827 0.00007
NM_017617.5(NOTCH1):c.4551C>T (p.Asp1517=) rs766737406 0.00007
NM_017617.5(NOTCH1):c.4809C>T (p.Asn1603=) rs370523171 0.00007
NM_017617.5(NOTCH1):c.5682C>T (p.Gly1894=) rs541372272 0.00007
NM_020436.5(SALL4):c.696C>T (p.Thr232=) rs376488018 0.00007
NM_020779.4(WDR35):c.2847A>G (p.Lys949=) rs373983961 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.3261+20C>T rs547317070 0.00007
NM_025132.4(WDR19):c.3358+14A>G rs372822923 0.00007
NM_052989.3(IFT122):c.1489-16G>A rs576753615 0.00007
NM_052989.3(IFT122):c.2375+13C>T rs749785449 0.00007
NM_147127.5(EVC2):c.2202C>T (p.Asp734=) rs199788223 0.00007
NM_147127.5(EVC2):c.2613C>T (p.Ile871=) rs759358405 0.00007
NM_147127.5(EVC2):c.3636G>C (p.Leu1212=) rs749901674 0.00007
NM_153717.3(EVC):c.2041G>A (p.Glu681Lys) rs201877358 0.00007
NM_170707.4(LMNA):c.1488+7G>A rs374209100 0.00007
NM_000141.5(FGFR2):c.201C>T (p.Ala67=) rs200386134 0.00006
NM_000141.5(FGFR2):c.420G>A (p.Ala140=) rs765024365 0.00006
NM_001039958.2(MESP2):c.561G>A (p.Gly187=) rs767474985 0.00006
NM_001040167.2(LFNG):c.1026C>T (p.Asn342=) rs756592084 0.00006
NM_001040167.2(LFNG):c.316C>T (p.Leu106=) rs761785878 0.00006
NM_001040167.2(LFNG):c.481+10G>C rs763736744 0.00006
NM_001040167.2(LFNG):c.696G>A (p.Arg232=) rs772432543 0.00006
NM_001040167.2(LFNG):c.988-11G>A rs199722773 0.00006
NM_001174147.2(LMX1B):c.139+19C>T rs371424668 0.00006
NM_001174147.2(LMX1B):c.381C>T (p.Phe127=) rs540034621 0.00006
NM_001174147.2(LMX1B):c.648G>A (p.Pro216=) rs550024836 0.00006
NM_001271938.2(MEGF8):c.1789-5C>T rs752609842 0.00006
NM_001271938.2(MEGF8):c.2784G>A (p.Ala928=) rs750686408 0.00006
NM_001271938.2(MEGF8):c.3951C>T (p.Pro1317=) rs139891048 0.00006
NM_001271938.2(MEGF8):c.6753G>A (p.Thr2251=) rs372437317 0.00006
NM_001271938.2(MEGF8):c.7311C>T (p.Gly2437=) rs375011847 0.00006
NM_001271938.2(MEGF8):c.7713G>A (p.Pro2571=) rs200748447 0.00006
NM_001278689.2(EOGT):c.624T>C (p.Phe208=) rs371892977 0.00006
NM_001361.5(DHODH):c.*1174T>G rs148338434 0.00006
NM_001374353.1(GLI2):c.1120C>T (p.Arg374Cys) rs200076785 0.00006
NM_001374353.1(GLI2):c.672G>A (p.Thr224=) rs147049153 0.00006
NM_001379081.2(FREM1):c.4983T>A (p.Pro1661=) rs111333359 0.00006
NM_001384732.1(CPLANE1):c.3474A>G (p.Pro1158=) rs148286269 0.00006
NM_001384732.1(CPLANE1):c.7296A>G (p.Lys2432=) rs374320265 0.00006
NM_001384732.1(CPLANE1):c.938+20T>C rs1391242118 0.00006
NM_001384732.1(CPLANE1):c.93C>T (p.Ala31=) rs200942752 0.00006
NM_001429.4(EP300):c.3377A>G (p.Asn1126Ser) rs777847755 0.00006
NM_001429.4(EP300):c.3591-19A>G rs376628079 0.00006
NM_001429.4(EP300):c.4214G>A (p.Arg1405His) rs138855106 0.00006
NM_001429.4(EP300):c.4482A>G (p.Arg1494=) rs149471059 0.00006
NM_001429.4(EP300):c.5568G>A (p.Thr1856=) rs202043101 0.00006
NM_001429.4(EP300):c.5957C>T (p.Pro1986Leu) rs144626200 0.00006
NM_001429.4(EP300):c.6649G>A (p.Val2217Ile) rs368554118 0.00006
NM_001429.4(EP300):c.6912C>T (p.Ser2304=) rs113329190 0.00006
NM_001429.4(EP300):c.6950G>A (p.Arg2317Gln) rs149456776 0.00006
NM_002010.3(FGF9):c.420C>T (p.Phe140=) rs765041263 0.00006
NM_002449.5(MSX2):c.286G>T (p.Val96Leu) rs769329948 0.00006
NM_002601.4(PDE6D):c.201G>A (p.Ser67=) rs764377846 0.00006
NM_002601.4(PDE6D):c.408C>T (p.Asp136=) rs547505745 0.00006
NM_003036.4(SKI):c.1162G>A (p.Ala388Thr) rs376736872 0.00006
NM_003036.4(SKI):c.1182C>T (p.Ser394=) rs542616415 0.00006
NM_003036.4(SKI):c.1211+10C>T rs200242660 0.00006
NM_003036.4(SKI):c.1271C>T (p.Pro424Leu) rs764317955 0.00006
NM_003036.4(SKI):c.1710C>T (p.Arg570=) rs766067033 0.00006
NM_003036.4(SKI):c.1923G>A (p.Leu641=) rs199666240 0.00006
NM_003036.4(SKI):c.360C>T (p.Arg120=) rs375024753 0.00006
NM_003036.4(SKI):c.567G>C (p.Leu189=) rs752411031 0.00006
NM_003611.3(OFD1):c.282C>T (p.Phe94=) rs762169661 0.00006
NM_003611.3(OFD1):c.2992G>A (p.Glu998Lys) rs772233258 0.00006
NM_003722.5(TP63):c.1095G>A (p.Ser365=) rs748609799 0.00006
NM_003722.5(TP63):c.1707G>A (p.Gly569=) rs202009057 0.00006
NM_004260.4(RECQL4):c.1170T>C (p.Phe390=) rs768991485 0.00006
NM_004260.4(RECQL4):c.1284T>C (p.Val428=) rs766635144 0.00006
NM_004260.4(RECQL4):c.1696C>T (p.Leu566=) rs371981215 0.00006
NM_004260.4(RECQL4):c.1761G>A (p.Ala587=) rs777920456 0.00006
NM_004260.4(RECQL4):c.1869C>T (p.Arg623=) rs368736533 0.00006
NM_004260.4(RECQL4):c.2154G>A (p.Ala718=) rs745813211 0.00006
NM_004260.4(RECQL4):c.2196T>A (p.Ser732=) rs373197205 0.00006
NM_004260.4(RECQL4):c.2235C>T (p.His745=) rs372501393 0.00006
NM_004260.4(RECQL4):c.2499C>T (p.His833=) rs377593129 0.00006
NM_004260.4(RECQL4):c.2580G>A (p.Pro860=) rs370134665 0.00006
NM_004260.4(RECQL4):c.2586G>A (p.Ser862=) rs201012205 0.00006
NM_004260.4(RECQL4):c.2885+9G>A rs578139954 0.00006
NM_004260.4(RECQL4):c.2910G>A (p.Leu970=) rs771581851 0.00006
NM_004260.4(RECQL4):c.3219C>G (p.Thr1073=) rs769367312 0.00006
NM_004260.4(RECQL4):c.3465C>T (p.Phe1155=) rs376874393 0.00006
NM_004260.4(RECQL4):c.444C>T (p.Val148=) rs559167672 0.00006
NM_004260.4(RECQL4):c.702C>T (p.Ser234=) rs907039783 0.00006
NM_004260.4(RECQL4):c.735C>T (p.Val245=) rs373764166 0.00006
NM_004260.4(RECQL4):c.862G>A (p.Gly288Arg) rs199706417 0.00006
NM_004380.3(CREBBP):c.2364C>T (p.Pro788=) rs201070000 0.00006
NM_004380.3(CREBBP):c.2415G>A (p.Ala805=) rs368664039 0.00006
NM_004380.3(CREBBP):c.3029C>T (p.Pro1010Leu) rs139896431 0.00006
NM_004380.3(CREBBP):c.435C>T (p.Pro145=) rs201435679 0.00006
NM_004380.3(CREBBP):c.4560+6C>T rs369973805 0.00006
NM_004380.3(CREBBP):c.4956C>T (p.Pro1652=) rs139365408 0.00006
NM_004380.3(CREBBP):c.7011G>A (p.Thr2337=) rs377692518 0.00006
NM_004380.3(CREBBP):c.7293G>A (p.Thr2431=) rs587783514 0.00006
NM_006766.5(KAT6A):c.2983G>A (p.Glu995Lys) rs779315883 0.00006
NM_012330.4(KAT6B):c.2373+9G>A rs200359469 0.00006
NM_012330.4(KAT6B):c.354T>C (p.Leu118=) rs147013911 0.00006
NM_012330.4(KAT6B):c.3957G>T (p.Leu1319Phe) rs150339818 0.00006
NM_012330.4(KAT6B):c.4251G>A (p.Glu1417=) rs770760304 0.00006
NM_012330.4(KAT6B):c.519G>A (p.Arg173=) rs374557982 0.00006
NM_012330.4(KAT6B):c.5783A>G (p.Lys1928Arg) rs374914802 0.00006
NM_012330.4(KAT6B):c.5967C>T (p.Leu1989=) rs373882553 0.00006
NM_012330.4(KAT6B):c.6147G>A (p.Thr2049=) rs533433915 0.00006
NM_012330.4(KAT6B):c.6187A>C (p.Lys2063Gln) rs773473193 0.00006
NM_012330.4(KAT6B):c.846+16G>A rs374506959 0.00006
NM_015631.6(TCTN3):c.1096-13C>T rs372991715 0.00006
NM_015631.6(TCTN3):c.1680C>T (p.Pro560=) rs761227686 0.00006
NM_017617.5(NOTCH1):c.1026C>T (p.Ala342=) rs755895298 0.00006
NM_017617.5(NOTCH1):c.1555+15C>T rs577175237 0.00006
NM_017617.5(NOTCH1):c.1590C>T (p.Asp530=) rs562807473 0.00006
NM_017617.5(NOTCH1):c.2207+14C>T rs369626003 0.00006
NM_017617.5(NOTCH1):c.2292C>T (p.Asn764=) rs775201110 0.00006
NM_017617.5(NOTCH1):c.2588-16T>G rs781139940 0.00006
NM_017617.5(NOTCH1):c.2640C>T (p.His880=) rs374946182 0.00006
NM_017617.5(NOTCH1):c.2741-12G>A rs370769571 0.00006
NM_017617.5(NOTCH1):c.2889C>T (p.Cys963=) rs749585921 0.00006
NM_017617.5(NOTCH1):c.3001G>A (p.Gly1001Ser) rs763621169 0.00006
NM_017617.5(NOTCH1):c.3171+9G>A rs377541723 0.00006
NM_017617.5(NOTCH1):c.3270C>T (p.Thr1090=) rs773990513 0.00006
NM_017617.5(NOTCH1):c.3271G>A (p.Gly1091Ser) rs768095251 0.00006
NM_017617.5(NOTCH1):c.339C>T (p.Asn113=) rs369947231 0.00006
NM_017617.5(NOTCH1):c.3807C>T (p.Asn1269=) rs1008389563 0.00006
NM_017617.5(NOTCH1):c.404-13C>G rs766360723 0.00006
NM_017617.5(NOTCH1):c.4328C>T (p.Pro1443Leu) rs750010764 0.00006
NM_017617.5(NOTCH1):c.4371C>T (p.Asp1457=) rs368677987 0.00006
NM_017617.5(NOTCH1):c.4718C>T (p.Thr1573Met) rs573864607 0.00006
NM_017617.5(NOTCH1):c.4833C>T (p.His1611=) rs1308437413 0.00006
NM_017617.5(NOTCH1):c.5118C>T (p.Leu1706=) rs747037396 0.00006
NM_017617.5(NOTCH1):c.558C>T (p.Pro186=) rs756111268 0.00006
NM_017617.5(NOTCH1):c.5718G>A (p.Ala1906=) rs369730620 0.00006
NM_017617.5(NOTCH1):c.5853C>T (p.Ser1951=) rs373902356 0.00006
NM_017617.5(NOTCH1):c.6082+18C>T rs200956958 0.00006
NM_017617.5(NOTCH1):c.6457G>A (p.Val2153Met) rs375073677 0.00006
NM_017617.5(NOTCH1):c.6783C>T (p.Gly2261=) rs749536941 0.00006
NM_017617.5(NOTCH1):c.6852C>T (p.Thr2284=) rs777957099 0.00006
NM_017617.5(NOTCH1):c.6960G>A (p.Pro2320=) rs768457106 0.00006
NM_017617.5(NOTCH1):c.6981G>T (p.Arg2327=) rs376490131 0.00006
NM_017617.5(NOTCH1):c.702C>T (p.Arg234=) rs1392150131 0.00006
NM_017617.5(NOTCH1):c.7251G>A (p.Pro2417=) rs368498380 0.00006
NM_017617.5(NOTCH1):c.7413G>A (p.Ser2471=) rs367706382 0.00006
NM_017617.5(NOTCH1):c.7425C>T (p.Pro2475=) rs772308416 0.00006
NM_017617.5(NOTCH1):c.7617T>G (p.Pro2539=) rs375444185 0.00006
NM_017617.5(NOTCH1):c.975C>T (p.Asn325=) rs746111102 0.00006
NM_020436.5(SALL4):c.318C>T (p.Ser106=) rs371144604 0.00006
NM_020779.4(WDR35):c.1098T>C (p.Asn366=) rs780105362 0.00006
NM_020779.4(WDR35):c.2573T>C (p.Val858Ala) rs759587265 0.00006
NM_020779.4(WDR35):c.657C>T (p.Tyr219=) rs768183424 0.00006
NM_022458.4(LMBR1):c.52G>T (p.Val18Leu) rs147215221 0.00006
NM_023110.3(FGFR1):c.1186G>A (p.Val396Ile) rs752627281 0.00006
NM_023110.3(FGFR1):c.1285-15C>T rs760069564 0.00006
NM_023110.3(FGFR1):c.1977+10G>A rs770318743 0.00006
NM_023110.3(FGFR1):c.2049-13C>T rs756845879 0.00006
NM_023110.3(FGFR1):c.358+18G>T rs375458309 0.00006
NM_052989.3(IFT122):c.1758C>G (p.His586Gln) rs141889207 0.00006
NM_052989.3(IFT122):c.3603C>T (p.Asp1201=) rs369729210 0.00006
NM_052989.3(IFT122):c.783G>A (p.Gln261=) rs144727222 0.00006
NM_052989.3(IFT122):c.93C>T (p.Ala31=) rs374303835 0.00006
NM_147127.5(EVC2):c.1478T>C (p.Val493Ala) rs202210260 0.00006
NM_147127.5(EVC2):c.1677T>C (p.Ala559=) rs761646676 0.00006
NM_147127.5(EVC2):c.192G>C (p.Pro64=) rs777094897 0.00006
NM_147127.5(EVC2):c.2079C>T (p.Val693=) rs201171209 0.00006
NM_147127.5(EVC2):c.2604C>T (p.Leu868=) rs138672121 0.00006
NM_147127.5(EVC2):c.2829+9A>C rs370232376 0.00006
NM_147127.5(EVC2):c.3837G>A (p.Lys1279=) rs201651890 0.00006
NM_147127.5(EVC2):c.3864T>A (p.Pro1288=) rs138166440 0.00006
NM_147127.5(EVC2):c.531G>A (p.Ser177=) rs146658261 0.00006
NM_147127.5(EVC2):c.887G>C (p.Gly296Ala) rs201083070 0.00006
NM_153717.3(EVC):c.1242C>T (p.Ser414=) rs769206763 0.00006
NM_153717.3(EVC):c.1350G>A (p.Ala450=) rs752575646 0.00006
NM_153717.3(EVC):c.1564-8C>T rs373957181 0.00006
NM_153717.3(EVC):c.1692C>T (p.Asn564=) rs138242443 0.00006
NM_153717.3(EVC):c.1980G>A (p.Thr660=) rs537471996 0.00006
NM_153717.3(EVC):c.2349C>T (p.Ser783=) rs138114051 0.00006
NM_153717.3(EVC):c.2550G>A (p.Ala850=) rs754053651 0.00006
NM_153717.3(EVC):c.2868C>T (p.Ser956=) rs757526901 0.00006
NM_153717.3(EVC):c.534C>A (p.Val178=) rs774703104 0.00006
NM_153717.3(EVC):c.588C>T (p.Asn196=) rs756994584 0.00006
NM_153717.3(EVC):c.940-150T>C rs576076928 0.00006
NM_181486.4(TBX5):c.1476C>T (p.Gly492=) rs369034176 0.00006
NM_181486.4(TBX5):c.786C>T (p.Thr262=) rs375955080 0.00006
NM_000141.5(FGFR2):c.287G>T (p.Gly96Val) rs1277734487 0.00005
NM_000142.5(FGFR3):c.1827C>G (p.Ala609=) rs750472969 0.00005
NM_001040167.2(LFNG):c.1053G>A (p.Ser351=) rs751281684 0.00005
NM_001104631.2(PDE4D):c.1197A>G (p.Glu399=) rs369906474 0.00005
NM_001104631.2(PDE4D):c.781C>A (p.Pro261Thr) rs749222606 0.00005
NM_001271938.2(MEGF8):c.352-5C>T rs180788941 0.00005
NM_001374353.1(GLI2):c.1701T>C (p.His567=) rs370382506 0.00005
NM_001374353.1(GLI2):c.2598G>A (p.Pro866=) rs772224406 0.00005
NM_001374353.1(GLI2):c.3405C>T (p.Gly1135=) rs753450963 0.00005
NM_001384732.1(CPLANE1):c.1545C>T (p.Asn515=) rs773819961 0.00005
NM_001384732.1(CPLANE1):c.3897A>G (p.Ala1299=) rs372380629 0.00005
NM_001429.4(EP300):c.1529-16T>C rs1343155056 0.00005
NM_001429.4(EP300):c.1878+13T>C rs200466416 0.00005
NM_001429.4(EP300):c.270C>T (p.Ser90=) rs367583060 0.00005
NM_001429.4(EP300):c.3617A>G (p.Asn1206Ser) rs779792116 0.00005
NM_001429.4(EP300):c.4624A>G (p.Lys1542Glu) rs374162524 0.00005
NM_001429.4(EP300):c.5391G>A (p.Gln1797=) rs1014464615 0.00005
NM_001429.4(EP300):c.6922C>T (p.Arg2308Cys) rs145312648 0.00005
NM_002449.5(MSX2):c.*46G>T rs375964205 0.00005
NM_002601.4(PDE6D):c.174A>G (p.Ala58=) rs139835658 0.00005
NM_003036.4(SKI):c.1096-5G>A rs566936949 0.00005
NM_003036.4(SKI):c.1212-15C>T rs200904079 0.00005
NM_003036.4(SKI):c.1212-8C>T rs370921440 0.00005
NM_003036.4(SKI):c.1242C>T (p.Ala414=) rs757550300 0.00005
NM_003036.4(SKI):c.1263C>T (p.Leu421=) rs773045410 0.00005
NM_003036.4(SKI):c.450C>T (p.Cys150=) rs538703800 0.00005
NM_003036.4(SKI):c.994A>G (p.Ile332Val) rs374264201 0.00005
NM_003611.3(OFD1):c.1347A>G (p.Ala449=) rs151287373 0.00005
NM_003722.5(TP63):c.1626G>A (p.Pro542=) rs370637253 0.00005
NM_003722.5(TP63):c.654A>G (p.Pro218=) rs764672477 0.00005
NM_004260.4(RECQL4):c.1047C>T (p.Asp349=) rs766767449 0.00005
NM_004260.4(RECQL4):c.1132-17A>G rs755123515 0.00005
NM_004260.4(RECQL4):c.1259-19C>T rs368604581 0.00005
NM_004260.4(RECQL4):c.1483+7G>A rs373192242 0.00005
NM_004260.4(RECQL4):c.1484-11_1484-10insT rs746795582 0.00005
NM_004260.4(RECQL4):c.186C>T (p.Ser62=) rs753359759 0.00005
NM_004260.4(RECQL4):c.1879-20C>T rs375451371 0.00005
NM_004260.4(RECQL4):c.2385C>T (p.Phe795=) rs587778644 0.00005
NM_004260.4(RECQL4):c.2673A>G (p.Pro891=) rs751424598 0.00005
NM_004260.4(RECQL4):c.3363C>T (p.Asp1121=) rs148752485 0.00005
NM_004260.4(RECQL4):c.525G>A (p.Leu175=) rs562163514 0.00005
NM_004260.4(RECQL4):c.85-17A>T rs1008911481 0.00005
NM_004380.3(CREBBP):c.1514C>T (p.Pro505Leu) rs369550568 0.00005
NM_004380.3(CREBBP):c.1854C>T (p.Pro618=) rs61754522 0.00005
NM_004380.3(CREBBP):c.6195C>T (p.Ser2065=) rs374150949 0.00005
NM_004380.3(CREBBP):c.7272G>T (p.Leu2424=) rs375448134 0.00005
NM_005515.4(MNX1):c.853-4G>T rs751247773 0.00005
NM_006494.4(ERF):c.1152C>T (p.Leu384=) rs772786203 0.00005
NM_006494.4(ERF):c.36G>A (p.Pro12=) rs371076249 0.00005
NM_006494.4(ERF):c.885C>T (p.Ser295=) rs758048419 0.00005
NM_012330.4(KAT6B):c.1565C>A (p.Ser522Tyr) rs200852439 0.00005
NM_012330.4(KAT6B):c.3762C>T (p.Arg1254=) rs145119505 0.00005
NM_012330.4(KAT6B):c.3801C>T (p.Thr1267=) rs375206291 0.00005
NM_012330.4(KAT6B):c.4878C>T (p.Tyr1626=) rs146568876 0.00005
NM_012330.4(KAT6B):c.5385C>T (p.Tyr1795=) rs767336647 0.00005
NM_015631.6(TCTN3):c.1452+17A>G rs376162804 0.00005
NM_015631.6(TCTN3):c.1591-4G>A rs376757601 0.00005
NM_015631.6(TCTN3):c.888+10T>C rs746513472 0.00005
NM_016277.5(RAB23):c.123C>T (p.Thr41=) rs759408401 0.00005
NM_017617.5(NOTCH1):c.1125A>G (p.Ala375=) rs371954544 0.00005
NM_017617.5(NOTCH1):c.1670-8C>T rs527374781 0.00005
NM_017617.5(NOTCH1):c.219A>G (p.Thr73=) rs759781673 0.00005
NM_017617.5(NOTCH1):c.2355T>C (p.Gly785=) rs199719103 0.00005
NM_017617.5(NOTCH1):c.2388G>A (p.Ala796=) rs561956078 0.00005
NM_017617.5(NOTCH1):c.2744C>T (p.Pro915Leu) rs755058802 0.00005
NM_017617.5(NOTCH1):c.3326-16A>T rs374731388 0.00005
NM_017617.5(NOTCH1):c.3326-4G>A rs773638417 0.00005
NM_017617.5(NOTCH1):c.4027G>A (p.Ala1343Thr) rs369654090 0.00005
NM_017617.5(NOTCH1):c.5091C>T (p.Thr1697=) rs775882968 0.00005
NM_017617.5(NOTCH1):c.5100C>T (p.Ala1700=) rs376495459 0.00005
NM_017617.5(NOTCH1):c.5183C>T (p.Pro1728Leu) rs766358616 0.00005
NM_017617.5(NOTCH1):c.5373C>T (p.Ser1791=) rs777013344 0.00005
NM_017617.5(NOTCH1):c.5765A>G (p.Asn1922Ser) rs765708087 0.00005
NM_017617.5(NOTCH1):c.6090C>T (p.Ser2030=) rs773621396 0.00005
NM_017617.5(NOTCH1):c.61+7G>T rs753396547 0.00005
NM_017617.5(NOTCH1):c.6181-15G>A rs375436198 0.00005
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr) rs567909904 0.00005
NM_017617.5(NOTCH1):c.6941T>C (p.Leu2314Pro) rs200929799 0.00005
NM_017617.5(NOTCH1):c.7356G>A (p.Ala2452=) rs781520893 0.00005
NM_017617.5(NOTCH1):c.7366A>G (p.Ile2456Val) rs777934565 0.00005
NM_017617.5(NOTCH1):c.7398G>A (p.Thr2466=) rs775056799 0.00005
NM_017617.5(NOTCH1):c.743-4G>T rs748001079 0.00005
NM_017617.5(NOTCH1):c.963C>T (p.Cys321=) rs201158068 0.00005
NM_020779.4(WDR35):c.215-4C>G rs369080910 0.00005
NM_020779.4(WDR35):c.2659-19G>A rs749563049 0.00005
NM_020812.4(DOCK6):c.4368G>A (p.Thr1456=) rs376704333 0.00005
NM_022039.4(FBXW4):c.*3G>A rs777074009 0.00005
NM_023110.3(FGFR1):c.350A>G (p.Asn117Ser) rs780765366 0.00005
NM_023110.3(FGFR1):c.745+7G>A rs202096944 0.00005
NM_023110.3(FGFR1):c.937-6T>G rs374904700 0.00005
NM_025132.4(WDR19):c.522+13C>T rs374417243 0.00005
NM_025132.4(WDR19):c.962-11G>A rs537505873 0.00005
NM_052989.3(IFT122):c.228C>T (p.Ser76=) rs772835552 0.00005
NM_052989.3(IFT122):c.3309T>G (p.Thr1103=) rs749601918 0.00005
NM_052989.3(IFT122):c.3594G>T (p.Leu1198=) rs775936679 0.00005
NM_052989.3(IFT122):c.876C>T (p.Gly292=) rs768782991 0.00005
NM_147127.5(EVC2):c.126C>T (p.Leu42=) rs781009014 0.00005
NM_147127.5(EVC2):c.2076C>T (p.Ser692=) rs138556477 0.00005
NM_147127.5(EVC2):c.2157C>T (p.Ala719=) rs777141609 0.00005
NM_147127.5(EVC2):c.2556G>A (p.Arg852=) rs762781823 0.00005
NM_147127.5(EVC2):c.3094C>T (p.Leu1032=) rs777897646 0.00005
NM_147127.5(EVC2):c.669G>A (p.Ser223=) rs143697185 0.00005
NM_147127.5(EVC2):c.707-20_707-19del rs777343377 0.00005
NM_147127.5(EVC2):c.948C>T (p.Ala316=) rs376050796 0.00005
NM_153717.3(EVC):c.107C>G (p.Ala36Gly) rs1219807707 0.00005
NM_153717.3(EVC):c.1152T>C (p.Phe384=) rs574038265 0.00005
NM_153717.3(EVC):c.1962C>T (p.Asn654=) rs189626383 0.00005
NM_153717.3(EVC):c.2010C>T (p.Leu670=) rs369722491 0.00005
NM_153717.3(EVC):c.2961G>A (p.Lys987=) rs138808610 0.00005
NM_153717.3(EVC):c.312G>A (p.Pro104=) rs763930196 0.00005
NM_153717.3(EVC):c.549C>T (p.Ser183=) rs201071908 0.00005
NM_000141.5(FGFR2):c.2415C>T (p.Tyr805=) rs558460047 0.00004
NM_000557.5(GDF5):c.*387T>C rs553655935 0.00004
NM_000557.5(GDF5):c.*389C>T rs535023630 0.00004
NM_001040167.2(LFNG):c.567C>T (p.Ile189=) rs572875855 0.00004
NM_001040167.2(LFNG):c.594C>T (p.His198=) rs571692564 0.00004
NM_001040167.2(LFNG):c.600C>T (p.Asp200=) rs759542824 0.00004
NM_001040167.2(LFNG):c.736-15T>G rs199510750 0.00004
NM_001102564.3(IFT43):c.570G>A (p.Glu190=) rs201394224 0.00004
NM_001174147.2(LMX1B):c.333C>T (p.Phe111=) rs138385790 0.00004
NM_001174147.2(LMX1B):c.459C>T (p.Gly153=) rs779330478 0.00004
NM_001174147.2(LMX1B):c.874C>T (p.Arg292Trp) rs560914000 0.00004
NM_001271938.2(MEGF8):c.3350+11C>T rs201865376 0.00004
NM_001271938.2(MEGF8):c.3957C>A (p.Thr1319=) rs754753739 0.00004
NM_001271938.2(MEGF8):c.3990C>T (p.Pro1330=) rs141015952 0.00004
NM_001271938.2(MEGF8):c.4416C>T (p.Ala1472=) rs139822806 0.00004
NM_001271938.2(MEGF8):c.6059-18C>A rs565505835 0.00004
NM_001271938.2(MEGF8):c.6274-8C>G rs543093080 0.00004
NM_001271938.2(MEGF8):c.6588C>T (p.His2196=) rs751105144 0.00004
NM_001271938.2(MEGF8):c.7893C>T (p.Ala2631=) rs150486662 0.00004
NM_001374353.1(GLI2):c.1095C>T (p.Thr365=) rs374705620 0.00004
NM_001374353.1(GLI2):c.1158G>A (p.Pro386=) rs141647925 0.00004
NM_001374353.1(GLI2):c.1293C>T (p.Tyr431=) rs768259857 0.00004
NM_001374353.1(GLI2):c.1633-4C>G rs377701321 0.00004
NM_001374353.1(GLI2):c.1815T>C (p.Pro605=) rs146766721 0.00004
NM_001374353.1(GLI2):c.1906-11G>A rs769187484 0.00004
NM_001374353.1(GLI2):c.2061C>T (p.Ala687=) rs374564316 0.00004
NM_001374353.1(GLI2):c.2089G>A (p.Ala697Thr) rs553780090 0.00004
NM_001374353.1(GLI2):c.2667G>C (p.Pro889=) rs767130064 0.00004
NM_001374353.1(GLI2):c.3489T>C (p.Phe1163=) rs766031476 0.00004
NM_001374353.1(GLI2):c.402C>T (p.His134=) rs200675247 0.00004
NM_001374353.1(GLI2):c.4571C>A (p.Ser1524Tyr) rs199887024 0.00004
NM_001374353.1(GLI2):c.495C>T (p.Gly165=) rs193062450 0.00004
NM_001374353.1(GLI2):c.606C>T (p.Ser202=) rs146181686 0.00004
NM_001374353.1(GLI2):c.846-18G>A rs765320072 0.00004
NM_001379081.2(FREM1):c.3378A>G (p.Thr1126=) rs202213402 0.00004
NM_001384732.1(CPLANE1):c.6027G>T (p.Leu2009=) rs772082205 0.00004
NM_001384732.1(CPLANE1):c.7080G>A (p.Pro2360=) rs769298457 0.00004
NM_001384732.1(CPLANE1):c.7578C>T (p.Asp2526=) rs561079089 0.00004
NM_001384732.1(CPLANE1):c.7589-12A>C rs767934439 0.00004
NM_001384732.1(CPLANE1):c.8120-6A>G rs373606578 0.00004
NM_001429.4(EP300):c.1672A>G (p.Thr558Ala) rs1057519397 0.00004
NM_001429.4(EP300):c.1760+20C>T rs368767822 0.00004
NM_001429.4(EP300):c.2367T>C (p.Ala789=) rs759989339 0.00004
NM_001429.4(EP300):c.2419A>G (p.Ile807Val) rs201054979 0.00004
NM_001429.4(EP300):c.4347T>C (p.His1449=) rs137986257 0.00004
NM_001429.4(EP300):c.5028T>C (p.His1676=) rs747152661 0.00004
NM_001429.4(EP300):c.6923G>A (p.Arg2308His) rs759647202 0.00004
NM_001429.4(EP300):c.7140A>G (p.Pro2380=) rs543339090 0.00004
NM_001429.4(EP300):c.729+20G>T rs777496736 0.00004
NM_001429.4(EP300):c.781C>T (p.Pro261Ser) rs753462821 0.00004
NM_001793.6(CDH3):c.109A>T (p.Thr37Ser) rs374627741 0.00004
NM_001957.4(EDNRA):c.1110T>C (p.Tyr370=) rs2292764 0.00004
NM_002601.4(PDE6D):c.50+16C>A rs993589615 0.00004
NM_003036.4(SKI):c.1080C>T (p.Ala360=) rs200557598 0.00004
NM_003036.4(SKI):c.1096-6C>T rs201304370 0.00004
NM_003036.4(SKI):c.1258G>A (p.Ala420Thr) rs771862077 0.00004
NM_003036.4(SKI):c.1406C>T (p.Ala469Val) rs746659856 0.00004
NM_003036.4(SKI):c.1456G>A (p.Val486Ile) rs200717031 0.00004
NM_003036.4(SKI):c.1619C>T (p.Ala540Val) rs764786977 0.00004
NM_003036.4(SKI):c.1711G>A (p.Val571Met) rs190373826 0.00004
NM_003036.4(SKI):c.1767+12G>A rs772577806 0.00004
NM_003036.4(SKI):c.227T>C (p.Leu76Pro) rs753070477 0.00004
NM_003036.4(SKI):c.543C>T (p.Asp181=) rs766957830 0.00004
NM_003036.4(SKI):c.696G>A (p.Leu232=) rs748272908 0.00004
NM_003036.4(SKI):c.726C>T (p.Ala242=) rs139227600 0.00004
NM_003036.4(SKI):c.978T>G (p.Ser326=) rs759010691 0.00004
NM_003611.3(OFD1):c.494C>T (p.Ser165Leu) rs756793358 0.00004
NM_003722.5(TP63):c.1374A>G (p.Ser458=) rs141794685 0.00004
NM_003722.5(TP63):c.63-1G>C rs200607940 0.00004
NM_003722.5(TP63):c.688G>C (p.Val230Leu) rs201466089 0.00004
NM_003722.5(TP63):c.714G>A (p.Thr238=) rs773030906 0.00004
NM_004260.4(RECQL4):c.1155G>A (p.Lys385=) rs1263658929 0.00004
NM_004260.4(RECQL4):c.118+14G>T rs916059603 0.00004
NM_004260.4(RECQL4):c.1259-13C>T rs376829470 0.00004
NM_004260.4(RECQL4):c.1321C>T (p.Pro441Ser) rs557142414 0.00004
NM_004260.4(RECQL4):c.1365C>T (p.Ser455=) rs974662500 0.00004
NM_004260.4(RECQL4):c.1404G>A (p.Glu468=) rs371046973 0.00004
NM_004260.4(RECQL4):c.1617C>T (p.Asp539=) rs778916021 0.00004
NM_004260.4(RECQL4):c.1638G>A (p.Pro546=) rs775478350 0.00004
NM_004260.4(RECQL4):c.1653C>T (p.Ala551=) rs748651173 0.00004
NM_004260.4(RECQL4):c.1833C>T (p.Ser611=) rs777698581 0.00004
NM_004260.4(RECQL4):c.1911C>T (p.Phe637=) rs765491293 0.00004
NM_004260.4(RECQL4):c.192G>C (p.Ser64=) rs559507124 0.00004
NM_004260.4(RECQL4):c.2109T>C (p.Ile703=) rs759753484 0.00004
NM_004260.4(RECQL4):c.2424C>T (p.Asp808=) rs377301609 0.00004
NM_004260.4(RECQL4):c.2684G>A (p.Arg895Lys) rs763846344 0.00004
NM_004260.4(RECQL4):c.2756-6C>T rs369289550 0.00004
NM_004260.4(RECQL4):c.2799C>T (p.His933=) rs769613313 0.00004
NM_004260.4(RECQL4):c.3102C>T (p.Ala1034=) rs774570166 0.00004
NM_004260.4(RECQL4):c.3120G>A (p.Pro1040=) rs771832340 0.00004
NM_004260.4(RECQL4):c.3236+9G>A rs747467559 0.00004
NM_004260.4(RECQL4):c.3237-5C>G rs368617241 0.00004
NM_004260.4(RECQL4):c.330G>A (p.Lys110=) rs193091206 0.00004
NM_004260.4(RECQL4):c.39G>A (p.Ala13=) rs778012969 0.00004
NM_004260.4(RECQL4):c.504G>A (p.Arg168=) rs750760763 0.00004
NM_004260.4(RECQL4):c.634C>T (p.Leu212=) rs377012693 0.00004
NM_004260.4(RECQL4):c.675G>A (p.Ser225=) rs760733547 0.00004
NM_004380.3(CREBBP):c.1275T>C (p.His425=) rs758886547 0.00004
NM_004380.3(CREBBP):c.2413G>A (p.Ala805Thr) rs370128808 0.00004
NM_004380.3(CREBBP):c.2438C>T (p.Pro813Leu) rs150767375 0.00004
NM_004380.3(CREBBP):c.2598G>T (p.Met866Ile) rs771016864 0.00004
NM_004380.3(CREBBP):c.2668A>C (p.Thr890Pro) rs370012973 0.00004
NM_004380.3(CREBBP):c.3060+9C>T rs372291994 0.00004
NM_004380.3(CREBBP):c.4837G>A (p.Val1613Met) rs766085073 0.00004
NM_004380.3(CREBBP):c.594T>C (p.Ile198=) rs1376107928 0.00004
NM_004380.3(CREBBP):c.6056G>T (p.Gly2019Val) rs771420935 0.00004
NM_004380.3(CREBBP):c.6723A>G (p.Pro2241=) rs769325049 0.00004
NM_004380.3(CREBBP):c.6795G>A (p.Ala2265=) rs748072121 0.00004
NM_004380.3(CREBBP):c.69G>A (p.Ser23=) rs766095612 0.00004
NM_004380.3(CREBBP):c.711C>T (p.Ser237=) rs146049063 0.00004
NM_004380.3(CREBBP):c.7236G>A (p.Leu2412=) rs745992971 0.00004
NM_006494.4(ERF):c.1461C>T (p.Arg487=) rs371796869 0.00004
NM_006494.4(ERF):c.450C>T (p.Ser150=) rs747218945 0.00004
NM_012330.4(KAT6B):c.1709G>A (p.Arg570His) rs372742885 0.00004
NM_012330.4(KAT6B):c.2463C>T (p.Val821=) rs1470032014 0.00004
NM_012330.4(KAT6B):c.3216A>G (p.Glu1072=) rs776709807 0.00004
NM_012330.4(KAT6B):c.5364C>A (p.Ser1788Arg) rs376103273 0.00004
NM_012330.4(KAT6B):c.6054A>G (p.Gln2018=) rs1446331653 0.00004
NM_012330.4(KAT6B):c.6153C>T (p.Pro2051=) rs544887456 0.00004
NM_015631.6(TCTN3):c.1591-12T>C rs373643964 0.00004
NM_015631.6(TCTN3):c.381-19C>G rs759096352 0.00004
NM_016277.5(RAB23):c.171T>C (p.Asp57=) rs368714271 0.00004
NM_016277.5(RAB23):c.255T>C (p.Cys85=) rs374601145 0.00004
NM_016277.5(RAB23):c.481+10C>T rs546078370 0.00004
NM_016277.5(RAB23):c.534T>C (p.Ala178=) rs201820320 0.00004
NM_016277.5(RAB23):c.54A>G (p.Gly18=) rs767442221 0.00004
NM_017617.5(NOTCH1):c.1023C>T (p.Ser341=) rs200324222 0.00004
NM_017617.5(NOTCH1):c.1272G>A (p.Glu424=) rs377342874 0.00004
NM_017617.5(NOTCH1):c.1441+13G>C rs765812485 0.00004
NM_017617.5(NOTCH1):c.1670-10C>T rs751747178 0.00004
NM_017617.5(NOTCH1):c.1903+10C>G rs375704312 0.00004
NM_017617.5(NOTCH1):c.2015-13G>A rs772867940 0.00004
NM_017617.5(NOTCH1):c.2108G>A (p.Arg703His) rs561126575 0.00004
NM_017617.5(NOTCH1):c.2126A>G (p.His709Arg) rs373233257 0.00004
NM_017617.5(NOTCH1):c.2503C>T (p.Pro835Ser) rs377353441 0.00004
NM_017617.5(NOTCH1):c.2511C>T (p.Pro837=) rs201521828 0.00004
NM_017617.5(NOTCH1):c.2541C>T (p.Ser847=) rs763472606 0.00004
NM_017617.5(NOTCH1):c.2613C>T (p.Asn871=) rs767614547 0.00004
NM_017617.5(NOTCH1):c.2727C>T (p.Asp909=) rs752854629 0.00004
NM_017617.5(NOTCH1):c.2728G>A (p.Asp910Asn) rs765293859 0.00004
NM_017617.5(NOTCH1):c.2772C>T (p.Asp924=) rs762732089 0.00004
NM_017617.5(NOTCH1):c.2868C>T (p.Asn956=) rs760227470 0.00004
NM_017617.5(NOTCH1):c.3017C>T (p.Thr1006Ile) rs367860186 0.00004
NM_017617.5(NOTCH1):c.3121G>A (p.Gly1041Ser) rs375260339 0.00004
NM_017617.5(NOTCH1):c.3210C>T (p.Asn1070=) rs768144709 0.00004
NM_017617.5(NOTCH1):c.3282C>T (p.Cys1094=) rs748813647 0.00004
NM_017617.5(NOTCH1):c.3513C>T (p.Cys1171=) rs758860870 0.00004
NM_017617.5(NOTCH1):c.3732C>T (p.Cys1244=) rs746262173 0.00004
NM_017617.5(NOTCH1):c.3901+9C>T rs370537711 0.00004
NM_017617.5(NOTCH1):c.3905G>A (p.Arg1302His) rs762091081 0.00004
NM_017617.5(NOTCH1):c.3918C>T (p.Ser1306=) rs770781173 0.00004
NM_017617.5(NOTCH1):c.4143C>T (p.Pro1381=) rs539950718 0.00004
NM_017617.5(NOTCH1):c.4185C>T (p.Asn1395=) rs749570626 0.00004
NM_017617.5(NOTCH1):c.4344G>A (p.Ala1448=) rs763497791 0.00004
NM_017617.5(NOTCH1):c.4467C>T (p.Asn1489=) rs773323801 0.00004
NM_017617.5(NOTCH1):c.4572G>A (p.Ala1524=) rs745794855 0.00004
NM_017617.5(NOTCH1):c.4587-6C>T rs368601709 0.00004
NM_017617.5(NOTCH1):c.4635C>T (p.Cys1545=) rs775752102 0.00004
NM_017617.5(NOTCH1):c.4656G>A (p.Ala1552=) rs375091696 0.00004
NM_017617.5(NOTCH1):c.4800G>A (p.Leu1600=) rs761609069 0.00004
NM_017617.5(NOTCH1):c.5070G>A (p.Ser1690=) rs370200858 0.00004
NM_017617.5(NOTCH1):c.5168-4G>A rs751709616 0.00004
NM_017617.5(NOTCH1):c.5384+10C>T rs748380110 0.00004
NM_017617.5(NOTCH1):c.5416A>G (p.Met1806Val) rs114479009 0.00004
NM_017617.5(NOTCH1):c.5421C>T (p.Asp1807=) rs376590737 0.00004
NM_017617.5(NOTCH1):c.5473-6A>G rs367958280 0.00004
NM_017617.5(NOTCH1):c.5485G>A (p.Val1829Met) rs765486614 0.00004
NM_017617.5(NOTCH1):c.5550C>T (p.Ala1850=) rs374451515 0.00004
NM_017617.5(NOTCH1):c.5638+7G>C rs747630187 0.00004
NM_017617.5(NOTCH1):c.5715C>T (p.Asp1905=) rs748200129 0.00004
NM_017617.5(NOTCH1):c.5724C>T (p.Ala1908=) rs555773558 0.00004
NM_017617.5(NOTCH1):c.573C>T (p.His191=) rs763733336 0.00004
NM_017617.5(NOTCH1):c.597C>T (p.Val199=) rs747342494 0.00004
NM_017617.5(NOTCH1):c.6083-15G>C rs935662425 0.00004
NM_017617.5(NOTCH1):c.6150C>T (p.Asn2050=) rs757372588 0.00004
NM_017617.5(NOTCH1):c.6222C>T (p.Tyr2074=) rs764551640 0.00004
NM_017617.5(NOTCH1):c.6384G>A (p.Pro2128=) rs746762310 0.00004
NM_017617.5(NOTCH1):c.6540G>A (p.Arg2180=) rs549193636 0.00004
NM_017617.5(NOTCH1):c.6573G>A (p.Leu2191=) rs758591166 0.00004
NM_017617.5(NOTCH1):c.6577A>G (p.Ser2193Gly) rs1060502236 0.00004
NM_017617.5(NOTCH1):c.6750G>A (p.Ala2250=) rs758285863 0.00004
NM_017617.5(NOTCH1):c.6822C>A (p.Ser2274=) rs754675254 0.00004
NM_017617.5(NOTCH1):c.7203C>T (p.Asn2401=) rs756434740 0.00004
NM_017617.5(NOTCH1):c.7385C>T (p.Pro2462Leu) rs767435492 0.00004
NM_017617.5(NOTCH1):c.7386C>T (p.Pro2462=) rs369470875 0.00004
NM_017617.5(NOTCH1):c.7401G>A (p.Ser2467=) rs371306178 0.00004
NM_017617.5(NOTCH1):c.7569G>A (p.Ser2523=) rs534623042 0.00004
NM_017617.5(NOTCH1):c.7641C>T (p.Ile2547=) rs370124241 0.00004
NM_017617.5(NOTCH1):c.773T>C (p.Ile258Thr) rs1217015143 0.00004
NM_017617.5(NOTCH1):c.865+10C>T rs760702631 0.00004
NM_017617.5(NOTCH1):c.865+16G>A rs199828787 0.00004
NM_017617.5(NOTCH1):c.924C>T (p.Asn308=) rs765208754 0.00004
NM_020436.5(SALL4):c.2385C>T (p.Ala795=) rs142446452 0.00004
NM_020436.5(SALL4):c.594G>A (p.Ala198=) rs377028033 0.00004
NM_020779.4(WDR35):c.1029T>C (p.Thr343=) rs536150588 0.00004
NM_020779.4(WDR35):c.143-4T>C rs1180620404 0.00004
NM_020779.4(WDR35):c.2592A>G (p.Ala864=) rs750654551 0.00004
NM_020779.4(WDR35):c.2877C>G (p.Leu959=) rs139447814 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_022458.4(LMBR1):c.204C>T (p.Leu68=) rs766669976 0.00004
NM_023110.3(FGFR1):c.1005C>T (p.Asp335=) rs1331582263 0.00004
NM_023110.3(FGFR1):c.1431-6C>T rs375706016 0.00004
NM_023110.3(FGFR1):c.2187-5C>T rs770230705 0.00004
NM_023110.3(FGFR1):c.2293-11G>A rs886062919 0.00004
NM_023110.3(FGFR1):c.2400G>A (p.Pro800=) rs780308433 0.00004
NM_023110.3(FGFR1):c.2428C>T (p.His810Tyr) rs759376422 0.00004
NM_023110.3(FGFR1):c.266A>G (p.Gln89Arg) rs773938208 0.00004
NM_023110.3(FGFR1):c.333C>T (p.Thr111=) rs771522317 0.00004
NM_023110.3(FGFR1):c.621+7G>T rs377200873 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_023110.3(FGFR1):c.92-14C>T rs547772178 0.00004
NM_023110.3(FGFR1):c.937-14G>A rs779223305 0.00004
NM_023110.3(FGFR1):c.937-4C>T rs777156333 0.00004
NM_025132.4(WDR19):c.1962A>G (p.Ala654=) rs770818331 0.00004
NM_025132.4(WDR19):c.2607C>T (p.Tyr869=) rs371645967 0.00004
NM_025132.4(WDR19):c.2742T>C (p.Ala914=) rs753812144 0.00004
NM_052989.3(IFT122):c.2650+12A>G rs777744869 0.00004
NM_052989.3(IFT122):c.273-260T>C rs369997431 0.00004
NM_052989.3(IFT122):c.2895G>A (p.Pro965=) rs771092154 0.00004
NM_052989.3(IFT122):c.2904C>T (p.Val968=) rs140575442 0.00004
NM_052989.3(IFT122):c.2988-6C>T rs749670705 0.00004
NM_052989.3(IFT122):c.3267C>T (p.Asp1089=) rs759436069 0.00004
NM_052989.3(IFT122):c.3333C>T (p.Ile1111=) rs991750889 0.00004
NM_052989.3(IFT122):c.563+7T>C rs371311619 0.00004
NM_052989.3(IFT122):c.849C>T (p.Pro283=) rs771115196 0.00004
NM_147127.5(EVC2):c.1122G>A (p.Gly374=) rs780172151 0.00004
NM_147127.5(EVC2):c.1530G>A (p.Leu510=) rs750953517 0.00004
NM_147127.5(EVC2):c.2247C>T (p.Asp749=) rs748420448 0.00004
NM_147127.5(EVC2):c.2397C>T (p.Asp799=) rs372782913 0.00004
NM_147127.5(EVC2):c.2517A>G (p.Ser839=) rs756424912 0.00004
NM_147127.5(EVC2):c.2644A>G (p.Thr882Ala) rs190540235 0.00004
NM_147127.5(EVC2):c.2706+13T>C rs200000369 0.00004
NM_147127.5(EVC2):c.3048G>A (p.Ser1016=) rs182310332 0.00004
NM_147127.5(EVC2):c.3058-4G>A rs1490949079 0.00004
NM_147127.5(EVC2):c.30C>T (p.Pro10=) rs1193570001 0.00004
NM_147127.5(EVC2):c.3156C>T (p.Ala1052=) rs770163191 0.00004
NM_147127.5(EVC2):c.3165C>T (p.Pro1055=) rs756880962 0.00004
NM_147127.5(EVC2):c.3192G>A (p.Val1064=) rs755786659 0.00004
NM_147127.5(EVC2):c.3405C>T (p.Pro1135=) rs776832054 0.00004
NM_147127.5(EVC2):c.3489C>T (p.Thr1163=) rs370368827 0.00004
NM_147127.5(EVC2):c.3825C>T (p.Phe1275=) rs772566880 0.00004
NM_147127.5(EVC2):c.576C>G (p.Thr192=) rs764691234 0.00004
NM_147127.5(EVC2):c.732C>T (p.Tyr244=) rs765159349 0.00004
NM_153717.3(EVC):c.1852G>A (p.Gly618Ser) rs777024713 0.00004
NM_153717.3(EVC):c.1896G>T (p.Arg632=) rs758327867 0.00004
NM_153717.3(EVC):c.219G>A (p.Ala73=) rs759816860 0.00004
NM_153717.3(EVC):c.2305-6C>T rs781705295 0.00004
NM_153717.3(EVC):c.2412C>T (p.His804=) rs553232598 0.00004
NM_153717.3(EVC):c.279G>A (p.Ser93=) rs373072919 0.00004
NM_153717.3(EVC):c.717T>A (p.Ile239=) rs372312182 0.00004
NM_153717.3(EVC):c.867T>G (p.Gly289=) rs758866277 0.00004
NM_153717.3(EVC):c.906G>A (p.Lys302=) rs368231289 0.00004
NM_170707.4(LMNA):c.1299C>T (p.His433=) rs61217436 0.00004
NM_203486.3(DLL3):c.409+19G>T rs201227250 0.00004
NM_203486.3(DLL3):c.984C>T (p.Val328=) rs138378695 0.00004
NM_000141.5(FGFR2):c.1086G>A (p.Ala362=) rs151250769 0.00003
NM_000141.5(FGFR2):c.1545C>T (p.Ala515=) rs778789088 0.00003
NM_000141.5(FGFR2):c.1818C>T (p.Cys606=) rs371395564 0.00003
NM_001039958.2(MESP2):c.207G>T (p.Thr69=) rs571669966 0.00003
NM_001040167.2(LFNG):c.1059G>A (p.Glu353=) rs761502412 0.00003
NM_001040167.2(LFNG):c.6C>A (p.Leu2=) rs1390203183 0.00003
NM_001040167.2(LFNG):c.821+8C>T rs200827566 0.00003
NM_001040167.2(LFNG):c.822-5C>T rs373907631 0.00003
NM_001102564.3(IFT43):c.501C>A (p.Val167=) rs1248117843 0.00003
NM_001271938.2(MEGF8):c.1707C>T (p.Ser569=) rs201780276 0.00003
NM_001271938.2(MEGF8):c.1992G>A (p.Ala664=) rs753660883 0.00003
NM_001271938.2(MEGF8):c.2961C>T (p.His987=) rs760802467 0.00003
NM_001271938.2(MEGF8):c.3648C>T (p.His1216=) rs144358189 0.00003
NM_001271938.2(MEGF8):c.5556C>T (p.Arg1852=) rs756300122 0.00003
NM_001271938.2(MEGF8):c.5601G>C (p.Leu1867=) rs772768540 0.00003
NM_001271938.2(MEGF8):c.5907T>C (p.Asn1969=) rs751281117 0.00003
NM_001271938.2(MEGF8):c.6093C>T (p.Thr2031=) rs992577271 0.00003
NM_001271938.2(MEGF8):c.6705C>T (p.Pro2235=) rs149735243 0.00003
NM_001271938.2(MEGF8):c.8487G>A (p.Ala2829=) rs773571688 0.00003
NM_001278689.2(EOGT):c.515+7T>A rs764750079 0.00003
NM_001374353.1(GLI2):c.131C>T (p.Ala44Val) rs200095340 0.00003
NM_001374353.1(GLI2):c.1633-5C>T rs551256208 0.00003
NM_001374353.1(GLI2):c.1755C>T (p.Asp585=) rs139202322 0.00003
NM_001374353.1(GLI2):c.1890G>A (p.Lys630=) rs565184396 0.00003
NM_001374353.1(GLI2):c.2486C>T (p.Pro829Leu) rs761090665 0.00003
NM_001374353.1(GLI2):c.3562C>T (p.Leu1188=) rs369264013 0.00003
NM_001374353.1(GLI2):c.4299G>T (p.Gln1433His) rs201523549 0.00003
NM_001374353.1(GLI2):c.4440C>T (p.Ser1480=) rs1403391073 0.00003
NM_001379081.2(FREM1):c.2811G>A (p.Gly937=) rs150482858 0.00003
NM_001384732.1(CPLANE1):c.570+12C>T rs1339498232 0.00003
NM_001384732.1(CPLANE1):c.8679G>A (p.Pro2893=) rs370303703 0.00003
NM_001395413.1(POR):c.560A>G (p.Tyr187Cys) rs782681272 0.00003
NM_001429.4(EP300):c.1528+15T>C rs200147263 0.00003
NM_001429.4(EP300):c.1627A>G (p.Met543Val) rs142823793 0.00003
NM_001429.4(EP300):c.4172+16A>G rs777335301 0.00003
NM_001429.4(EP300):c.545A>G (p.Asn182Ser) rs201487387 0.00003
NM_001429.4(EP300):c.6091C>T (p.Pro2031Ser) rs199650847 0.00003
NM_001429.4(EP300):c.726T>A (p.Leu242=) rs886057555 0.00003
NM_002010.3(FGF9):c.283C>G (p.Leu95Val) rs776951218 0.00003
NM_002734.5(PRKAR1A):c.762T>C (p.Ser254=) rs753621663 0.00003
NM_003036.4(SKI):c.1187A>G (p.His396Arg) rs987527805 0.00003
NM_003036.4(SKI):c.1272G>A (p.Pro424=) rs552946737 0.00003
NM_003036.4(SKI):c.1556G>A (p.Arg519His) rs376322470 0.00003
NM_003036.4(SKI):c.1637G>A (p.Arg546Gln) rs748681103 0.00003
NM_003036.4(SKI):c.1866G>A (p.Glu622=) rs748886393 0.00003
NM_003036.4(SKI):c.1877A>T (p.Lys626Met) rs774106502 0.00003
NM_003036.4(SKI):c.1935G>T (p.Arg645=) rs751933078 0.00003
NM_003036.4(SKI):c.1999-19C>T rs1367620764 0.00003
NM_003036.4(SKI):c.2112G>A (p.Glu704=) rs1034542455 0.00003
NM_003036.4(SKI):c.2154G>T (p.Ala718=) rs778456446 0.00003
NM_003036.4(SKI):c.336C>T (p.Cys112=) rs752031916 0.00003
NM_003036.4(SKI):c.393G>A (p.Leu131=) rs748004059 0.00003
NM_003036.4(SKI):c.844C>A (p.Arg282=) rs753783431 0.00003
NM_003036.4(SKI):c.970-7A>G rs199634070 0.00003
NM_003611.3(OFD1):c.1694T>C (p.Val565Ala) rs529916753 0.00003
NM_003611.3(OFD1):c.2482T>G (p.Phe828Val) rs779051357 0.00003
NM_003611.3(OFD1):c.688A>G (p.Ile230Val) rs770131832 0.00003
NM_003722.5(TP63):c.366G>A (p.Gln122=) rs201774402 0.00003
NM_003722.5(TP63):c.402T>C (p.Tyr134=) rs201239102 0.00003
NM_003722.5(TP63):c.992+8G>A rs192488893 0.00003
NM_004260.4(RECQL4):c.1014C>G (p.Pro338=) rs373657692 0.00003
NM_004260.4(RECQL4):c.102G>T (p.Ala34=) rs1043318406 0.00003
NM_004260.4(RECQL4):c.1071C>T (p.Asn357=) rs747857375 0.00003
NM_004260.4(RECQL4):c.1131+12A>G rs767404728 0.00003
NM_004260.4(RECQL4):c.1131+9G>C rs373765596 0.00003
NM_004260.4(RECQL4):c.1185C>T (p.Ala395=) rs539629689 0.00003
NM_004260.4(RECQL4):c.1258+15C>T rs754841430 0.00003
NM_004260.4(RECQL4):c.1259-12T>C rs539767366 0.00003
NM_004260.4(RECQL4):c.1259-20C>T rs201864865 0.00003
NM_004260.4(RECQL4):c.138C>G (p.Arg46=) rs887031349 0.00003
NM_004260.4(RECQL4):c.1391-15C>T rs370529775 0.00003
NM_004260.4(RECQL4):c.1431G>T (p.Gly477=) rs760661879 0.00003
NM_004260.4(RECQL4):c.1440C>T (p.Ala480=) rs1060504216 0.00003
NM_004260.4(RECQL4):c.1530G>C (p.Leu510=) rs372597841 0.00003
NM_004260.4(RECQL4):c.1587C>T (p.Val529=) rs767967343 0.00003
NM_004260.4(RECQL4):c.1621-9C>T rs758888472 0.00003
NM_004260.4(RECQL4):c.1626T>C (p.Ser542=) rs754134346 0.00003
NM_004260.4(RECQL4):c.1755G>T (p.Val585=) rs539370260 0.00003
NM_004260.4(RECQL4):c.1966C>T (p.Leu656=) rs55667349 0.00003
NM_004260.4(RECQL4):c.2019C>T (p.Asn673=) rs748657934 0.00003
NM_004260.4(RECQL4):c.2058+19G>A rs771449554 0.00003
NM_004260.4(RECQL4):c.2097C>T (p.Asn699=) rs896790337 0.00003
NM_004260.4(RECQL4):c.213+16C>T rs758319543 0.00003
NM_004260.4(RECQL4):c.2208C>A (p.Ala736=) rs1183777303 0.00003
NM_004260.4(RECQL4):c.2463+10C>G rs752112003 0.00003
NM_004260.4(RECQL4):c.2502C>T (p.Ala834=) rs751755789 0.00003
NM_004260.4(RECQL4):c.255T>C (p.Ala85=) rs1163167976 0.00003
NM_004260.4(RECQL4):c.2640A>G (p.Gln880=) rs776935762 0.00003
NM_004260.4(RECQL4):c.2751G>A (p.Glu917=) rs768002459 0.00003
NM_004260.4(RECQL4):c.3055+7C>G rs372511135 0.00003
NM_004260.4(RECQL4):c.3072A>G (p.Thr1024=) rs754479836 0.00003
NM_004260.4(RECQL4):c.3184C>T (p.Arg1062Trp) rs199658221 0.00003
NM_004260.4(RECQL4):c.3236+17C>T rs375577319 0.00003
NM_004260.4(RECQL4):c.3237-20T>G rs780188311 0.00003
NM_004260.4(RECQL4):c.3330A>G (p.Glu1110=) rs754909617 0.00003
NM_004260.4(RECQL4):c.3502+10G>A rs908693736 0.00003
NM_004260.4(RECQL4):c.3507C>T (p.Ser1169=) rs370738615 0.00003
NM_004260.4(RECQL4):c.3528G>A (p.Val1176=) rs763965257 0.00003
NM_004260.4(RECQL4):c.3582C>T (p.Ala1194=) rs772747279 0.00003
NM_004260.4(RECQL4):c.388C>T (p.Leu130=) rs878854650 0.00003
NM_004260.4(RECQL4):c.507A>G (p.Pro169=) rs755588645 0.00003
NM_004260.4(RECQL4):c.558A>G (p.Leu186=) rs376582536 0.00003
NM_004260.4(RECQL4):c.699C>T (p.Gly233=) rs770614796 0.00003
NM_004260.4(RECQL4):c.777C>T (p.Gly259=) rs201571855 0.00003
NM_004260.4(RECQL4):c.864G>A (p.Gly288=) rs1182438148 0.00003
NM_004260.4(RECQL4):c.909A>G (p.Val303=) rs377295171 0.00003
NM_004260.4(RECQL4):c.930C>G (p.Pro310=) rs751163976 0.00003
NM_004260.4(RECQL4):c.942A>C (p.Pro314=) rs567678020 0.00003
NM_004380.3(CREBBP):c.1026A>G (p.Thr342=) rs751666077 0.00003
NM_004380.3(CREBBP):c.1995A>G (p.Leu665=) rs1028648371 0.00003
NM_004380.3(CREBBP):c.2141G>A (p.Arg714His) rs141098117 0.00003
NM_004380.3(CREBBP):c.2400G>A (p.Pro800=) rs756570921 0.00003
NM_004380.3(CREBBP):c.271G>T (p.Ala91Ser) rs200673670 0.00003
NM_004380.3(CREBBP):c.3233C>T (p.Ser1078Leu) rs942848385 0.00003
NM_004380.3(CREBBP):c.4560+7G>C rs587783498 0.00003
NM_004380.3(CREBBP):c.4674A>G (p.Gln1558=) rs770241645 0.00003
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=) rs200287696 0.00003
NM_004380.3(CREBBP):c.5169C>T (p.Cys1723=) rs146718571 0.00003
NM_004380.3(CREBBP):c.5740G>A (p.Val1914Met) rs760771706 0.00003
NM_004380.3(CREBBP):c.5970C>T (p.Thr1990=) rs773118274 0.00003
NM_004380.3(CREBBP):c.6006G>T (p.Val2002=) rs768100377 0.00003
NM_004380.3(CREBBP):c.6071C>T (p.Ala2024Val) rs745551441 0.00003
NM_004380.3(CREBBP):c.6549G>A (p.Ala2183=) rs1348561145 0.00003
NM_004380.3(CREBBP):c.675G>A (p.Pro225=) rs140708841 0.00003
NM_004380.3(CREBBP):c.701C>T (p.Ala234Val) rs727503892 0.00003
NM_004380.3(CREBBP):c.7125C>T (p.His2375=) rs746116315 0.00003
NM_006494.4(ERF):c.819C>T (p.Thr273=) rs200872722 0.00003
NM_012330.4(KAT6B):c.1626A>G (p.Ala542=) rs748080816 0.00003
NM_012330.4(KAT6B):c.2793G>A (p.Thr931=) rs140113295 0.00003
NM_012330.4(KAT6B):c.3741G>A (p.Val1247=) rs957783395 0.00003
NM_012330.4(KAT6B):c.4263C>T (p.Asn1421=) rs148928516 0.00003
NM_012330.4(KAT6B):c.4384C>A (p.Leu1462Ile) rs374530664 0.00003
NM_012330.4(KAT6B):c.5487T>C (p.Asp1829=) rs767046915 0.00003
NM_012330.4(KAT6B):c.5601C>T (p.Ser1867=) rs138499019 0.00003
NM_012330.4(KAT6B):c.5831A>G (p.Tyr1944Cys) rs143966521 0.00003
NM_012330.4(KAT6B):c.603A>G (p.Leu201=) rs913559908 0.00003
NM_012330.4(KAT6B):c.6211A>G (p.Met2071Val) rs759978500 0.00003
NM_015631.6(TCTN3):c.1134T>G (p.Pro378=) rs771848227 0.00003
NM_015631.6(TCTN3):c.153A>G (p.Ser51=) rs937027387 0.00003
NM_015631.6(TCTN3):c.18C>T (p.Leu6=) rs879694012 0.00003
NM_017617.5(NOTCH1):c.114A>G (p.Glu38=) rs375506915 0.00003
NM_017617.5(NOTCH1):c.1446C>T (p.Tyr482=) rs757373430 0.00003
NM_017617.5(NOTCH1):c.1845G>A (p.Gly615=) rs1442503672 0.00003
NM_017617.5(NOTCH1):c.1863C>T (p.Arg621=) rs749374016 0.00003
NM_017617.5(NOTCH1):c.1988A>T (p.Glu663Val) rs1468283318 0.00003
NM_017617.5(NOTCH1):c.210C>T (p.Asn70=) rs763414200 0.00003
NM_017617.5(NOTCH1):c.225C>T (p.His75=) rs776616401 0.00003
NM_017617.5(NOTCH1):c.2354-14C>A rs376797282 0.00003
NM_017617.5(NOTCH1):c.2379C>T (p.Asn793=) rs200565505 0.00003
NM_017617.5(NOTCH1):c.246G>C (p.Val82=) rs1055942607 0.00003
NM_017617.5(NOTCH1):c.2520C>T (p.Asn840=) rs546222078 0.00003
NM_017617.5(NOTCH1):c.2588-5C>T rs764684418 0.00003
NM_017617.5(NOTCH1):c.2654A>G (p.Gln885Arg) rs764327751 0.00003
NM_017617.5(NOTCH1):c.2665G>A (p.Gly889Ser) rs557590721 0.00003
NM_017617.5(NOTCH1):c.2895C>T (p.Asp965=) rs769901855 0.00003
NM_017617.5(NOTCH1):c.2995G>A (p.Val999Met) rs756840659 0.00003
NM_017617.5(NOTCH1):c.3012G>A (p.Ser1004=) rs371301397 0.00003
NM_017617.5(NOTCH1):c.3076G>A (p.Asp1026Asn) rs772134978 0.00003
NM_017617.5(NOTCH1):c.3171+12G>A rs753242532 0.00003
NM_017617.5(NOTCH1):c.3354T>C (p.His1118=) rs754633274 0.00003
NM_017617.5(NOTCH1):c.3405G>A (p.Ala1135=) rs192914380 0.00003
NM_017617.5(NOTCH1):c.3552C>T (p.Ile1184=) rs773375573 0.00003
NM_017617.5(NOTCH1):c.3583G>A (p.Gly1195Arg) rs777194812 0.00003
NM_017617.5(NOTCH1):c.3643+17G>A rs376187570 0.00003
NM_017617.5(NOTCH1):c.3644-17G>A rs139960251 0.00003
NM_017617.5(NOTCH1):c.3644-18C>T rs575836415 0.00003
NM_017617.5(NOTCH1):c.3724G>A (p.Gly1242Ser) rs558191127 0.00003
NM_017617.5(NOTCH1):c.3860G>A (p.Arg1287His) rs763679772 0.00003
NM_017617.5(NOTCH1):c.3901+10G>A rs561404862 0.00003
NM_017617.5(NOTCH1):c.4015-7C>T rs761783451 0.00003
NM_017617.5(NOTCH1):c.4077C>T (p.Asn1359=) rs775108554 0.00003
NM_017617.5(NOTCH1):c.411G>A (p.Ser137=) rs560826996 0.00003
NM_017617.5(NOTCH1):c.4356C>T (p.Pro1452=) rs770281345 0.00003
NM_017617.5(NOTCH1):c.4393C>T (p.Leu1465=) rs779863069 0.00003
NM_017617.5(NOTCH1):c.4596C>T (p.Tyr1532=) rs751774685 0.00003
NM_017617.5(NOTCH1):c.4671C>T (p.Asp1557=) rs757602593 0.00003
NM_017617.5(NOTCH1):c.4713C>T (p.Ala1571=) rs377357743 0.00003
NM_017617.5(NOTCH1):c.474C>T (p.Phe158=) rs774011231 0.00003
NM_017617.5(NOTCH1):c.4794C>T (p.Arg1598=) rs558708604 0.00003
NM_017617.5(NOTCH1):c.500C>T (p.Pro167Leu) rs370951369 0.00003
NM_017617.5(NOTCH1):c.5019C>G (p.Gly1673=) rs754785324 0.00003
NM_017617.5(NOTCH1):c.5103A>G (p.Ala1701=) rs776610176 0.00003
NM_017617.5(NOTCH1):c.5115G>A (p.Ala1705=) rs201797774 0.00003
NM_017617.5(NOTCH1):c.5154C>T (p.Ile1718=) rs755764089 0.00003
NM_017617.5(NOTCH1):c.5168-11C>T rs756486803 0.00003
NM_017617.5(NOTCH1):c.5220G>A (p.Ala1740=) rs758562368 0.00003
NM_017617.5(NOTCH1):c.5361C>T (p.Leu1787=) rs760147171 0.00003
NM_017617.5(NOTCH1):c.5384+7G>A rs374235818 0.00003
NM_017617.5(NOTCH1):c.5407G>A (p.Gly1803Ser) rs369526652 0.00003
NM_017617.5(NOTCH1):c.5499C>T (p.Asp1833=) rs754075361 0.00003
NM_017617.5(NOTCH1):c.5733C>T (p.Ser1911=) rs61751534 0.00003
NM_017617.5(NOTCH1):c.5777G>A (p.Arg1926His) rs771407924 0.00003
NM_017617.5(NOTCH1):c.5892G>A (p.Pro1964=) rs769135138 0.00003
NM_017617.5(NOTCH1):c.6082+19G>A rs780533166 0.00003
NM_017617.5(NOTCH1):c.6180+8C>T rs769015966 0.00003
NM_017617.5(NOTCH1):c.621C>T (p.Arg207=) rs756164624 0.00003
NM_017617.5(NOTCH1):c.6270G>A (p.Thr2090=) rs755970286 0.00003
NM_017617.5(NOTCH1):c.6294C>T (p.Arg2098=) rs777111928 0.00003
NM_017617.5(NOTCH1):c.6351C>A (p.Asn2117Lys) rs755509796 0.00003
NM_017617.5(NOTCH1):c.6753C>T (p.Ala2251=) rs542875894 0.00003
NM_017617.5(NOTCH1):c.6770C>T (p.Ala2257Val) rs377112509 0.00003
NM_017617.5(NOTCH1):c.7017C>T (p.Ala2339=) rs1342843228 0.00003
NM_017617.5(NOTCH1):c.742+20G>A rs754496640 0.00003
NM_017617.5(NOTCH1):c.7431C>T (p.Thr2477=) rs748244353 0.00003
NM_017617.5(NOTCH1):c.870G>A (p.Gln290=) rs779434286 0.00003
NM_017617.5(NOTCH1):c.927C>T (p.Gly309=) rs753681098 0.00003
NM_020436.5(SALL4):c.216C>T (p.His72=) rs138604469 0.00003
NM_020436.5(SALL4):c.2462-12T>C rs770440198 0.00003
NM_020436.5(SALL4):c.3153G>A (p.Ala1051=) rs142551587 0.00003
NM_020779.4(WDR35):c.1113A>G (p.Lys371=) rs778831561 0.00003
NM_020779.4(WDR35):c.1260A>G (p.Pro420=) rs573958749 0.00003
NM_020779.4(WDR35):c.2326C>T (p.Leu776=) rs772138388 0.00003
NM_020779.4(WDR35):c.3363-15C>T rs763500770 0.00003
NM_023110.3(FGFR1):c.1595T>C (p.Met532Thr) rs777345476 0.00003
NM_023110.3(FGFR1):c.1663+9C>T rs557754125 0.00003
NM_023110.3(FGFR1):c.169C>A (p.Leu57Met) rs1301127877 0.00003
NM_023110.3(FGFR1):c.2049-12G>A rs563601371 0.00003
NM_023110.3(FGFR1):c.2106C>T (p.Pro702=) rs777061347 0.00003
NM_023110.3(FGFR1):c.2186+19C>T rs776791517 0.00003
NM_023110.3(FGFR1):c.449-7C>T rs754454127 0.00003
NM_023110.3(FGFR1):c.456T>C (p.Ala152=) rs369175953 0.00003
NM_023110.3(FGFR1):c.92-20C>T rs559825541 0.00003
NM_025132.4(WDR19):c.3716+13G>A rs759523972 0.00003
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu) rs576113399 0.00003
NM_052989.3(IFT122):c.1488+10C>T rs766274915 0.00003
NM_052989.3(IFT122):c.1503C>T (p.Phe501=) rs113871672 0.00003
NM_052989.3(IFT122):c.1526T>C (p.Val509Ala) rs191420441 0.00003
NM_052989.3(IFT122):c.2736T>C (p.Asn912=) rs752961918 0.00003
NM_052989.3(IFT122):c.3087C>A (p.Ala1029=) rs777602970 0.00003
NM_052989.3(IFT122):c.3144C>T (p.His1048=) rs777717739 0.00003
NM_052989.3(IFT122):c.564-15A>G rs919325670 0.00003
NM_052989.3(IFT122):c.669C>T (p.Tyr223=) rs139008392 0.00003
NM_052989.3(IFT122):c.732C>T (p.Asp244=) rs202074599 0.00003
NM_052989.3(IFT122):c.978G>A (p.Thr326=) rs781409395 0.00003
NM_147127.5(EVC2):c.1887-6A>G rs772186122 0.00003
NM_147127.5(EVC2):c.2160C>G (p.Thr720=) rs749380539 0.00003
NM_147127.5(EVC2):c.2451C>T (p.Ala817=) rs377709998 0.00003
NM_147127.5(EVC2):c.2501+20G>A rs371570790 0.00003
NM_147127.5(EVC2):c.2571C>A (p.Gly857=) rs533262793 0.00003
NM_147127.5(EVC2):c.2994G>A (p.Glu998=) rs769447158 0.00003
NM_147127.5(EVC2):c.3272+16C>T rs200378678 0.00003
NM_147127.5(EVC2):c.3660-10A>G rs371900491 0.00003
NM_147127.5(EVC2):c.3732G>A (p.Leu1244=) rs774269538 0.00003
NM_147127.5(EVC2):c.3882C>T (p.Asn1294=) rs921952317 0.00003
NM_147127.5(EVC2):c.885C>T (p.His295=) rs752378780 0.00003
NM_147127.5(EVC2):c.888C>T (p.Gly296=) rs370515818 0.00003
NM_147127.5(EVC2):c.93C>T (p.Leu31=) rs1217842109 0.00003
NM_153717.3(EVC):c.1059C>T (p.Ala353=) rs756025432 0.00003
NM_153717.3(EVC):c.1206C>T (p.His402=) rs756589627 0.00003
NM_153717.3(EVC):c.1349C>T (p.Ala450Val) rs749008952 0.00003
NM_153717.3(EVC):c.1377G>A (p.Thr459=) rs138725840 0.00003
NM_153717.3(EVC):c.1482G>A (p.Leu494=) rs371300088 0.00003
NM_153717.3(EVC):c.1563+11T>A rs1014470434 0.00003
NM_153717.3(EVC):c.1722C>T (p.Arg574=) rs144637923 0.00003
NM_153717.3(EVC):c.1798C>T (p.Leu600=) rs750023994 0.00003
NM_153717.3(EVC):c.180C>T (p.Asp60=) rs755788871 0.00003
NM_153717.3(EVC):c.1851C>G (p.Arg617=) rs967986192 0.00003
NM_153717.3(EVC):c.1956C>T (p.Arg652=) rs535012160 0.00003
NM_153717.3(EVC):c.231G>A (p.Ser77=) rs140615894 0.00003
NM_153717.3(EVC):c.2457G>A (p.Arg819=) rs1243308266 0.00003
NM_153717.3(EVC):c.2529C>T (p.Gly843=) rs377066936 0.00003
NM_153717.3(EVC):c.2535T>C (p.His845=) rs773156946 0.00003
NM_153717.3(EVC):c.2649C>T (p.Val883=) rs1483799016 0.00003
NM_170707.4(LMNA):c.1380+18G>A rs777846700 0.00003
NM_170707.4(LMNA):c.1381-13A>G rs750192865 0.00003
NM_181486.4(TBX5):c.57A>G (p.Ala19=) rs567785340 0.00003
NM_000141.5(FGFR2):c.1348C>T (p.Arg450Cys) rs536181987 0.00002
NM_000141.5(FGFR2):c.879C>T (p.His293=) rs55745510 0.00002
NM_000142.5(FGFR3):c.1899C>T (p.Ile633=) rs748492424 0.00002
NM_000142.5(FGFR3):c.1935C>T (p.Leu645=) rs104886006 0.00002
NM_000557.5(GDF5):c.206C>G (p.Ala69Gly) rs542574339 0.00002
NM_001040167.2(LFNG):c.1032C>T (p.Val344=) rs748395052 0.00002
NM_001040167.2(LFNG):c.327G>T (p.Pro109=) rs376342763 0.00002
NM_001040167.2(LFNG):c.582-10T>C rs1249078709 0.00002
NM_001040167.2(LFNG):c.768C>T (p.Gly256=) rs113634524 0.00002
NM_001040167.2(LFNG):c.870C>T (p.Asp290=) rs757292451 0.00002
NM_001040167.2(LFNG):c.924C>T (p.Ser308=) rs765338425 0.00002
NM_001104631.2(PDE4D):c.1252C>T (p.Arg418Trp) rs750666346 0.00002
NM_001104631.2(PDE4D):c.1831-7A>G rs766871489 0.00002
NM_001174147.2(LMX1B):c.741+14G>A rs527313096 0.00002
NM_001271938.2(MEGF8):c.1626G>A (p.Ala542=) rs1053183256 0.00002
NM_001271938.2(MEGF8):c.2724C>T (p.His908=) rs752713774 0.00002
NM_001271938.2(MEGF8):c.5364C>T (p.His1788=) rs1038902556 0.00002
NM_001271938.2(MEGF8):c.6540C>T (p.Asp2180=) rs781099770 0.00002
NM_001271938.2(MEGF8):c.6834+11C>T rs369152755 0.00002
NM_001271938.2(MEGF8):c.7099C>T (p.Leu2367=) rs768745459 0.00002
NM_001271938.2(MEGF8):c.7184C>T (p.Thr2395Met) rs758007485 0.00002
NM_001374353.1(GLI2):c.1481C>T (p.Ser494Leu) rs372925840 0.00002
NM_001374353.1(GLI2):c.1632+10C>T rs769094105 0.00002
NM_001374353.1(GLI2):c.2571C>G (p.Gly857=) rs757164059 0.00002
NM_001374353.1(GLI2):c.30C>T (p.Ser10=) rs145169912 0.00002
NM_001374353.1(GLI2):c.4242G>A (p.Pro1414=) rs771337922 0.00002
NM_001384732.1(CPLANE1):c.1465G>T (p.Val489Phe) rs372187548 0.00002
NM_001384732.1(CPLANE1):c.1623A>G (p.Glu541=) rs1420586506 0.00002
NM_001384732.1(CPLANE1):c.3508-19A>G rs754906346 0.00002
NM_001384732.1(CPLANE1):c.5738-5G>A rs570312147 0.00002
NM_001429.4(EP300):c.108A>G (p.Leu36=) rs374715858 0.00002
NM_001429.4(EP300):c.1575G>A (p.Pro525=) rs772455986 0.00002
NM_001429.4(EP300):c.1781C>T (p.Thr594Met) rs750740148 0.00002
NM_001429.4(EP300):c.1887C>T (p.Tyr629=) rs144594889 0.00002
NM_001429.4(EP300):c.1991T>C (p.Met664Thr) rs547684073 0.00002
NM_001429.4(EP300):c.2766G>A (p.Ala922=) rs370810144 0.00002
NM_001429.4(EP300):c.4235C>T (p.Ala1412Val) rs887226313 0.00002
NM_001429.4(EP300):c.4980G>A (p.Thr1660=) rs570470790 0.00002
NM_001429.4(EP300):c.579C>T (p.Asn193=) rs376004661 0.00002
NM_001429.4(EP300):c.7191C>T (p.Thr2397=) rs376984096 0.00002
NM_001429.4(EP300):c.907-10T>C rs772628747 0.00002
NM_002601.4(PDE6D):c.363C>T (p.Ser121=) rs1206823310 0.00002
NM_002734.5(PRKAR1A):c.-6-7C>T rs373646911 0.00002
NM_003036.4(SKI):c.1034C>T (p.Ala345Val) rs201599402 0.00002
NM_003036.4(SKI):c.1059C>T (p.Ser353=) rs375991331 0.00002
NM_003036.4(SKI):c.1153G>A (p.Ala385Thr) rs758235470 0.00002
NM_003036.4(SKI):c.1211+17C>T rs753878221 0.00002
NM_003036.4(SKI):c.1382C>T (p.Thr461Ile) rs141464453 0.00002
NM_003036.4(SKI):c.1400C>T (p.Thr467Met) rs752151031 0.00002
NM_003036.4(SKI):c.1439C>T (p.Ser480Leu) rs367916348 0.00002
NM_003036.4(SKI):c.1480T>A (p.Ser494Thr) rs781304969 0.00002
NM_003036.4(SKI):c.1553C>T (p.Ala518Val) rs776056360 0.00002
NM_003036.4(SKI):c.1569G>A (p.Ser523=) rs767052019 0.00002
NM_003036.4(SKI):c.1596C>T (p.Ala532=) rs752673852 0.00002
NM_003036.4(SKI):c.1599C>T (p.Asp533=) rs758323266 0.00002
NM_003036.4(SKI):c.1654G>A (p.Gly552Ser) rs1010245755 0.00002
NM_003036.4(SKI):c.1967C>T (p.Ala656Val) rs571976990 0.00002
NM_003036.4(SKI):c.2013G>A (p.Gln671=) rs1040803635 0.00002
NM_003036.4(SKI):c.209C>T (p.Pro70Leu) rs994969301 0.00002
NM_003036.4(SKI):c.2165G>A (p.Gly722Asp) rs1488554459 0.00002
NM_003036.4(SKI):c.762C>T (p.Tyr254=) rs56352201 0.00002
NM_003036.4(SKI):c.930A>G (p.Lys310=) rs751629802 0.00002
NM_003036.4(SKI):c.975C>T (p.Ser325=) rs753145672 0.00002
NM_003036.4(SKI):c.985C>T (p.Pro329Ser) rs770539313 0.00002
NM_003611.3(OFD1):c.2176C>T (p.Arg726Cys) rs1260959326 0.00002
NM_004260.4(RECQL4):c.1080G>A (p.Gln360=) rs768049351 0.00002
NM_004260.4(RECQL4):c.1131+19A>G rs762567822 0.00002
NM_004260.4(RECQL4):c.1213C>T (p.Leu405=) rs973308698 0.00002
NM_004260.4(RECQL4):c.1259-6C>T rs745614383 0.00002
NM_004260.4(RECQL4):c.1351C>T (p.Leu451=) rs1257077599 0.00002
NM_004260.4(RECQL4):c.1608C>T (p.Leu536=) rs772078220 0.00002
NM_004260.4(RECQL4):c.1621-16G>A rs745572933 0.00002
NM_004260.4(RECQL4):c.1621-17C>T rs769603253 0.00002
NM_004260.4(RECQL4):c.1665G>A (p.Ser555=) rs756736123 0.00002
NM_004260.4(RECQL4):c.1704+14G>T rs749796411 0.00002
NM_004260.4(RECQL4):c.1788G>C (p.Leu596=) rs752313281 0.00002
NM_004260.4(RECQL4):c.1857C>T (p.Pro619=) rs772421497 0.00002
NM_004260.4(RECQL4):c.1914G>A (p.Leu638=) rs754026048 0.00002
NM_004260.4(RECQL4):c.1917C>T (p.Gly639=) rs1226734309 0.00002
NM_004260.4(RECQL4):c.1953C>T (p.Asp651=) rs778308001 0.00002
NM_004260.4(RECQL4):c.2058+12T>C rs536891148 0.00002
NM_004260.4(RECQL4):c.2085A>G (p.Lys695=) rs761422037 0.00002
NM_004260.4(RECQL4):c.2124C>T (p.Asn708=) rs749266091 0.00002
NM_004260.4(RECQL4):c.2175C>T (p.His725=) rs569844897 0.00002
NM_004260.4(RECQL4):c.2277C>T (p.Ala759=) rs1434774811 0.00002
NM_004260.4(RECQL4):c.237G>T (p.Gly79=) rs954589490 0.00002
NM_004260.4(RECQL4):c.2406G>A (p.Val802=) rs754692026 0.00002
NM_004260.4(RECQL4):c.2464-4G>A rs371431265 0.00002
NM_004260.4(RECQL4):c.2464-5T>C rs564541064 0.00002
NM_004260.4(RECQL4):c.2464-9G>A rs1411942968 0.00002
NM_004260.4(RECQL4):c.2493T>C (p.His831=) rs780421783 0.00002
NM_004260.4(RECQL4):c.2496G>A (p.Val832=) rs756463555 0.00002
NM_004260.4(RECQL4):c.2691C>T (p.Cys897=) rs1383283920 0.00002
NM_004260.4(RECQL4):c.2756-17C>G rs531236566 0.00002
NM_004260.4(RECQL4):c.2820C>T (p.Thr940=) rs758900021 0.00002
NM_004260.4(RECQL4):c.2847C>T (p.Cys949=) rs560394637 0.00002
NM_004260.4(RECQL4):c.2877G>A (p.Leu959=) rs779276650 0.00002
NM_004260.4(RECQL4):c.2952C>T (p.Ser984=) rs373784742 0.00002
NM_004260.4(RECQL4):c.2958G>A (p.Glu986=) rs766197579 0.00002
NM_004260.4(RECQL4):c.3027G>A (p.Gln1009=) rs372660887 0.00002
NM_004260.4(RECQL4):c.3055+20A>C rs756983251 0.00002
NM_004260.4(RECQL4):c.3056-14A>G rs948348185 0.00002
NM_004260.4(RECQL4):c.3075G>A (p.Gly1025=) rs753381594 0.00002
NM_004260.4(RECQL4):c.3261C>T (p.Pro1087=) rs749540920 0.00002
NM_004260.4(RECQL4):c.3282G>A (p.Glu1094=) rs752540498 0.00002
NM_004260.4(RECQL4):c.3303G>A (p.Lys1101=) rs771528925 0.00002
NM_004260.4(RECQL4):c.3309G>T (p.Leu1103=) rs986482653 0.00002
NM_004260.4(RECQL4):c.3312C>T (p.Leu1104=) rs903928753 0.00002
NM_004260.4(RECQL4):c.3375C>T (p.Pro1125=) rs749208991 0.00002
NM_004260.4(RECQL4):c.3423C>T (p.Cys1141=) rs370611564 0.00002
NM_004260.4(RECQL4):c.3501C>T (p.Ile1167=) rs746323102 0.00002
NM_004260.4(RECQL4):c.3503-4G>A rs747471318 0.00002
NM_004260.4(RECQL4):c.3519G>A (p.Pro1173=) rs754019797 0.00002
NM_004260.4(RECQL4):c.355-5C>T rs372368046 0.00002
NM_004260.4(RECQL4):c.355-7C>T rs376295056 0.00002
NM_004260.4(RECQL4):c.3591C>T (p.Gly1197=) rs1377108265 0.00002
NM_004260.4(RECQL4):c.447C>T (p.Pro149=) rs377485079 0.00002
NM_004260.4(RECQL4):c.495C>G (p.Pro165=) rs1361421482 0.00002
NM_004260.4(RECQL4):c.609G>A (p.Gly203=) rs781731943 0.00002
NM_004260.4(RECQL4):c.642A>G (p.Ser214=) rs768486146 0.00002
NM_004260.4(RECQL4):c.85-9C>T rs751358754 0.00002
NM_004380.3(CREBBP):c.1331-4A>G rs756291909 0.00002
NM_004380.3(CREBBP):c.2193C>T (p.Asn731=) rs746813014 0.00002
NM_004380.3(CREBBP):c.2410G>A (p.Gly804Arg) rs754981072 0.00002
NM_004380.3(CREBBP):c.2464-7C>G rs772258017 0.00002
NM_004380.3(CREBBP):c.2482G>T (p.Ala828Ser) rs779000839 0.00002
NM_004380.3(CREBBP):c.3021G>C (p.Glu1007Asp) rs774653315 0.00002
NM_004380.3(CREBBP):c.4394+8T>C rs750961246 0.00002
NM_004380.3(CREBBP):c.4419C>T (p.Ala1473=) rs370689343 0.00002
NM_004380.3(CREBBP):c.4812C>T (p.Asn1604=) rs762565460 0.00002
NM_004380.3(CREBBP):c.6658G>A (p.Gly2220Ser) rs141184151 0.00002
NM_004380.3(CREBBP):c.7116G>A (p.Ser2372=) rs758454751 0.00002
NM_004380.3(CREBBP):c.759C>T (p.His253=) rs548980748 0.00002
NM_006494.4(ERF):c.1052C>T (p.Pro351Leu) rs376130330 0.00002
NM_012330.4(KAT6B):c.1536G>A (p.Thr512=) rs769547419 0.00002
NM_012330.4(KAT6B):c.1539C>T (p.Ala513=) rs774605212 0.00002
NM_012330.4(KAT6B):c.1754C>T (p.Ala585Val) rs780418110 0.00002
NM_012330.4(KAT6B):c.2250G>A (p.Leu750=) rs773341895 0.00002
NM_012330.4(KAT6B):c.2643T>C (p.Ser881=) rs1421625053 0.00002
NM_012330.4(KAT6B):c.311A>G (p.Asn104Ser) rs771668977 0.00002
NM_012330.4(KAT6B):c.3122C>T (p.Ser1041Leu) rs377321963 0.00002
NM_012330.4(KAT6B):c.3381T>C (p.Phe1127=) rs370323472 0.00002
NM_012330.4(KAT6B):c.3465A>G (p.Val1155=) rs749374416 0.00002
NM_012330.4(KAT6B):c.3987A>T (p.Thr1329=) rs1244083662 0.00002
NM_012330.4(KAT6B):c.4834C>T (p.Arg1612Cys) rs140992439 0.00002
NM_012330.4(KAT6B):c.4887C>T (p.Ile1629=) rs775407900 0.00002
NM_012330.4(KAT6B):c.510G>A (p.Pro170=) rs750020725 0.00002
NM_012330.4(KAT6B):c.5280G>A (p.Pro1760=) rs530795452 0.00002
NM_012330.4(KAT6B):c.5327C>A (p.Thr1776Asn) rs747908108 0.00002
NM_012330.4(KAT6B):c.5790G>A (p.Ala1930=) rs369127534 0.00002
NM_012330.4(KAT6B):c.765A>G (p.Leu255=) rs1338699123 0.00002
NM_012330.4(KAT6B):c.86A>T (p.Glu29Val) rs1167009272 0.00002
NM_012330.4(KAT6B):c.876T>C (p.Asp292=) rs367774560 0.00002
NM_015631.6(TCTN3):c.1298+16C>T rs777492522 0.00002
NM_015631.6(TCTN3):c.1539G>A (p.Pro513=) rs1026823695 0.00002
NM_015631.6(TCTN3):c.1591-9T>G rs1317879597 0.00002
NM_015631.6(TCTN3):c.889-18G>C rs1254012662 0.00002
NM_015631.6(TCTN3):c.931C>T (p.Leu311=) rs774592467 0.00002
NM_016277.5(RAB23):c.57A>G (p.Ala19=) rs750598308 0.00002
NM_016277.5(RAB23):c.606C>T (p.Ser202=) rs771204930 0.00002
NM_017617.5(NOTCH1):c.1044C>T (p.Ala348=) rs749267756 0.00002
NM_017617.5(NOTCH1):c.1221G>A (p.Pro407=) rs367567190 0.00002
NM_017617.5(NOTCH1):c.1256-15G>A rs200086842 0.00002
NM_017617.5(NOTCH1):c.128C>T (p.Thr43Met) rs371103280 0.00002
NM_017617.5(NOTCH1):c.1308C>T (p.Phe436=) rs758751583 0.00002
NM_017617.5(NOTCH1):c.1357G>A (p.Val453Ile) rs761629787 0.00002
NM_017617.5(NOTCH1):c.1362C>T (p.Asn454=) rs373152976 0.00002
NM_017617.5(NOTCH1):c.1368C>T (p.Cys456=) rs559866409 0.00002
NM_017617.5(NOTCH1):c.1441+8G>A rs765031085 0.00002
NM_017617.5(NOTCH1):c.1555+18C>G rs376982757 0.00002
NM_017617.5(NOTCH1):c.1677G>A (p.Thr559=) rs1391226025 0.00002
NM_017617.5(NOTCH1):c.1731C>T (p.Tyr577=) rs377472138 0.00002
NM_017617.5(NOTCH1):c.1749C>T (p.Gly583=) rs751367001 0.00002
NM_017617.5(NOTCH1):c.1758C>A (p.Thr586=) rs369523266 0.00002
NM_017617.5(NOTCH1):c.1861C>T (p.Arg621Cys) rs774622686 0.00002
NM_017617.5(NOTCH1):c.1953C>T (p.Asp651=) rs752168856 0.00002
NM_017617.5(NOTCH1):c.2014+7G>A rs562353347 0.00002
NM_017617.5(NOTCH1):c.2112C>T (p.Cys704=) rs757495549 0.00002
NM_017617.5(NOTCH1):c.2217C>T (p.Cys739=) rs752226005 0.00002
NM_017617.5(NOTCH1):c.2297G>T (p.Gly766Val) rs374434131 0.00002
NM_017617.5(NOTCH1):c.242G>A (p.Gly81Asp) rs749152413 0.00002
NM_017617.5(NOTCH1):c.2468-20C>T rs756381967 0.00002
NM_017617.5(NOTCH1):c.2523C>T (p.Gly841=) rs779908981 0.00002
NM_017617.5(NOTCH1):c.2588-9G>T rs757973986 0.00002
NM_017617.5(NOTCH1):c.2741-18C>T rs775954871 0.00002
NM_017617.5(NOTCH1):c.2754C>T (p.Asn918=) rs373787791 0.00002
NM_017617.5(NOTCH1):c.2812C>T (p.Arg938Trp) rs554142958 0.00002
NM_017617.5(NOTCH1):c.2835C>G (p.Asp945Glu) rs756174213 0.00002
NM_017617.5(NOTCH1):c.2903C>T (p.Thr968Met) rs781201059 0.00002
NM_017617.5(NOTCH1):c.2928C>T (p.Ser976=) rs534911025 0.00002
NM_017617.5(NOTCH1):c.2937C>T (p.His979=) rs1406216361 0.00002
NM_017617.5(NOTCH1):c.2969+7G>A rs770026189 0.00002
NM_017617.5(NOTCH1):c.3099C>T (p.Gly1033=) rs775567314 0.00002
NM_017617.5(NOTCH1):c.3171+8C>T rs985717588 0.00002
NM_017617.5(NOTCH1):c.3172-12A>G rs547259185 0.00002
NM_017617.5(NOTCH1):c.3325+9C>A rs1413516206 0.00002
NM_017617.5(NOTCH1):c.3503C>T (p.Ser1168Phe) rs375190395 0.00002
NM_017617.5(NOTCH1):c.3564C>T (p.Leu1188=) rs367932079 0.00002
NM_017617.5(NOTCH1):c.363G>A (p.Thr121=) rs777400734 0.00002
NM_017617.5(NOTCH1):c.3642G>A (p.Gln1214=) rs577243605 0.00002
NM_017617.5(NOTCH1):c.3679C>T (p.Pro1227Ser) rs777652834 0.00002
NM_017617.5(NOTCH1):c.3777C>T (p.Phe1259=) rs761586260 0.00002
NM_017617.5(NOTCH1):c.3859C>T (p.Arg1287Cys) rs751275854 0.00002
NM_017617.5(NOTCH1):c.3861C>T (p.Arg1287=) rs758031388 0.00002
NM_017617.5(NOTCH1):c.393C>T (p.Pro131=) rs1250243662 0.00002
NM_017617.5(NOTCH1):c.4067G>A (p.Arg1356His) rs864622727 0.00002
NM_017617.5(NOTCH1):c.4251C>T (p.Pro1417=) rs1453185145 0.00002
NM_017617.5(NOTCH1):c.4308C>T (p.Ala1436=) rs749702298 0.00002
NM_017617.5(NOTCH1):c.4312C>T (p.Arg1438Cys) rs746077264 0.00002
NM_017617.5(NOTCH1):c.4326G>A (p.Pro1442=) rs376469653 0.00002
NM_017617.5(NOTCH1):c.4329G>A (p.Pro1443=) rs1466689418 0.00002
NM_017617.5(NOTCH1):c.4587-11G>A rs778356792 0.00002
NM_017617.5(NOTCH1):c.4698C>T (p.Pro1566=) rs200462746 0.00002
NM_017617.5(NOTCH1):c.4746G>A (p.Pro1582=) rs886038974 0.00002
NM_017617.5(NOTCH1):c.5004C>T (p.Pro1668=) rs1200928521 0.00002
NM_017617.5(NOTCH1):c.5010C>T (p.Asp1670=) rs780348772 0.00002
NM_017617.5(NOTCH1):c.5167+19C>T rs751046078 0.00002
NM_017617.5(NOTCH1):c.5190G>A (p.Pro1730=) rs369854704 0.00002
NM_017617.5(NOTCH1):c.5340G>A (p.Lys1780=) rs148187717 0.00002
NM_017617.5(NOTCH1):c.5639-17C>T rs749795813 0.00002
NM_017617.5(NOTCH1):c.5830G>A (p.Ala1944Thr) rs371414501 0.00002
NM_017617.5(NOTCH1):c.5916C>T (p.Asp1972=) rs1045892978 0.00002
NM_017617.5(NOTCH1):c.5934+8G>A rs747822127 0.00002
NM_017617.5(NOTCH1):c.6054C>T (p.His2018=) rs202198360 0.00002
NM_017617.5(NOTCH1):c.6069C>T (p.Ala2023=) rs375920679 0.00002
NM_017617.5(NOTCH1):c.6083-10T>G rs1380449680 0.00002
NM_017617.5(NOTCH1):c.6321C>T (p.His2107=) rs532201830 0.00002
NM_017617.5(NOTCH1):c.6366G>A (p.Pro2122=) rs762003410 0.00002
NM_017617.5(NOTCH1):c.6498G>A (p.Leu2166=) rs201289055 0.00002
NM_017617.5(NOTCH1):c.6749C>T (p.Ala2250Val) rs777809068 0.00002
NM_017617.5(NOTCH1):c.6948C>T (p.Ser2316=) rs771142030 0.00002
NM_017617.5(NOTCH1):c.708G>A (p.Thr236=) rs774679591 0.00002
NM_017617.5(NOTCH1):c.7158G>A (p.Gln2386=) rs371664086 0.00002
NM_017617.5(NOTCH1):c.7224G>A (p.Leu2408=) rs761927126 0.00002
NM_017617.5(NOTCH1):c.723C>T (p.His241=) rs11574873 0.00002
NM_017617.5(NOTCH1):c.7278C>T (p.Ser2426=) rs757461161 0.00002
NM_017617.5(NOTCH1):c.7284C>T (p.His2428=) rs1248029549 0.00002
NM_017617.5(NOTCH1):c.742+12C>T rs1303732934 0.00002
NM_017617.5(NOTCH1):c.7458G>A (p.Ser2486=) rs781225824 0.00002
NM_017617.5(NOTCH1):c.7605C>T (p.Gly2535=) rs757253280 0.00002
NM_017617.5(NOTCH1):c.823G>A (p.Gly275Ser) rs371333249 0.00002
NM_017617.5(NOTCH1):c.948C>T (p.His316=) rs904456632 0.00002
NM_020436.5(SALL4):c.1431C>A (p.Val477=) rs753427438 0.00002
NM_020436.5(SALL4):c.2913G>A (p.Gln971=) rs773001598 0.00002
NM_020754.4(ARHGAP31):c.*466C>T rs116944967 0.00002
NM_020754.4(ARHGAP31):c.4139C>T (p.Thr1380Ile) rs9852894 0.00002
NM_020779.4(WDR35):c.1410T>C (p.His470=) rs1257210913 0.00002
NM_020779.4(WDR35):c.2643C>T (p.Cys881=) rs776211441 0.00002
NM_020779.4(WDR35):c.3189C>T (p.Cys1063=) rs1295936600 0.00002
NM_020779.4(WDR35):c.339A>G (p.Arg113=) rs750227579 0.00002
NM_022039.4(FBXW4):c.1254G>A (p.Thr418=) rs142870264 0.00002
NM_023110.3(FGFR1):c.1178C>T (p.Ser393Leu) rs369059499 0.00002
NM_023110.3(FGFR1):c.1663+10G>A rs901498652 0.00002
NM_023110.3(FGFR1):c.1809C>T (p.Cys603=) rs377314381 0.00002
NM_023110.3(FGFR1):c.1953C>T (p.Ile651=) rs376421301 0.00002
NM_023110.3(FGFR1):c.2007C>T (p.Pro669=) rs760681522 0.00002
NM_023110.3(FGFR1):c.2091C>T (p.Gly697=) rs773144331 0.00002
NM_023110.3(FGFR1):c.2238C>T (p.Thr746=) rs774683007 0.00002
NM_023110.3(FGFR1):c.2267G>A (p.Arg756His) rs374473310 0.00002
NM_023110.3(FGFR1):c.243C>T (p.Ile81=) rs764340351 0.00002
NM_023110.3(FGFR1):c.288C>T (p.Ser96=) rs757362905 0.00002
NM_023110.3(FGFR1):c.507G>A (p.Pro169=) rs374145904 0.00002
NM_023110.3(FGFR1):c.549C>T (p.Thr183=) rs886062920 0.00002
NM_023110.3(FGFR1):c.621+19G>A rs945311072 0.00002
NM_023110.3(FGFR1):c.83C>T (p.Pro28Leu) rs145434725 0.00002
NM_023110.3(FGFR1):c.937-15C>T rs966338298 0.00002
NM_025132.4(WDR19):c.1357-8C>T rs754713889 0.00002
NM_025132.4(WDR19):c.1752T>C (p.Tyr584=) rs139391186 0.00002
NM_025132.4(WDR19):c.3624C>T (p.Asn1208=) rs747334676 0.00002
NM_052989.3(IFT122):c.1506G>C (p.Val502=) rs754396913 0.00002
NM_052989.3(IFT122):c.1629C>T (p.Ile543=) rs372545849 0.00002
NM_052989.3(IFT122):c.2548-20T>A rs764768307 0.00002
NM_052989.3(IFT122):c.2628T>C (p.Asp876=) rs750912015 0.00002
NM_052989.3(IFT122):c.2652G>A (p.Ala884=) rs201147770 0.00002
NM_052989.3(IFT122):c.291A>G (p.Gln97=) rs569507011 0.00002
NM_052989.3(IFT122):c.3228C>T (p.Asn1076=) rs367891133 0.00002
NM_052989.3(IFT122):c.3234C>T (p.Arg1078=) rs781733102 0.00002
NM_052989.3(IFT122):c.3504G>C (p.Val1168=) rs368239028 0.00002
NM_052989.3(IFT122):c.3677A>G (p.His1226Arg) rs750154715 0.00002
NM_052989.3(IFT122):c.42-17C>G rs752213678 0.00002
NM_147127.5(EVC2):c.1083C>T (p.Asn361=) rs142231129 0.00002
NM_147127.5(EVC2):c.1169G>A (p.Arg390Gln) rs367655073 0.00002
NM_147127.5(EVC2):c.1503C>G (p.Thr501=) rs369530549 0.00002
NM_147127.5(EVC2):c.1608A>G (p.Glu536=) rs201898124 0.00002
NM_147127.5(EVC2):c.1755G>A (p.Arg585=) rs375393612 0.00002
NM_147127.5(EVC2):c.2046+20A>C rs777490147 0.00002
NM_147127.5(EVC2):c.2073G>A (p.Ala691=) rs765197478 0.00002
NM_147127.5(EVC2):c.2337G>A (p.Glu779=) rs985968905 0.00002
NM_147127.5(EVC2):c.2350A>G (p.Met784Val) rs202191109 0.00002
NM_147127.5(EVC2):c.2439C>T (p.Asp813=) rs370538823 0.00002
NM_147127.5(EVC2):c.2502-19T>C rs564320592 0.00002
NM_147127.5(EVC2):c.2637A>G (p.Gln879=) rs749805702 0.00002
NM_147127.5(EVC2):c.2667C>T (p.Phe889=) rs201173415 0.00002
NM_147127.5(EVC2):c.2707-9C>G rs772234395 0.00002
NM_147127.5(EVC2):c.2949G>A (p.Ser983=) rs755297128 0.00002
NM_147127.5(EVC2):c.3057+13G>A rs770915834 0.00002
NM_147127.5(EVC2):c.3058-5T>C rs765936867 0.00002
NM_147127.5(EVC2):c.3168G>C (p.Gly1056=) rs778954685 0.00002
NM_147127.5(EVC2):c.3249A>G (p.Thr1083=) rs779715707 0.00002
NM_147127.5(EVC2):c.3360+9G>A rs747744305 0.00002
NM_147127.5(EVC2):c.3859G>A (p.Val1287Ile) rs771435248 0.00002
NM_147127.5(EVC2):c.3891T>C (p.Asn1297=) rs966509995 0.00002
NM_147127.5(EVC2):c.522G>A (p.Val174=) rs140251602 0.00002
NM_147127.5(EVC2):c.753A>G (p.Gly251=) rs369737795 0.00002
NM_147127.5(EVC2):c.792A>G (p.Gln264=) rs1014985062 0.00002
NM_147127.5(EVC2):c.924C>T (p.Leu308=) rs140800339 0.00002
NM_153717.3(EVC):c.1074C>T (p.Cys358=) rs921573510 0.00002
NM_153717.3(EVC):c.114C>G (p.Leu38=) rs1167442380 0.00002
NM_153717.3(EVC):c.1389G>A (p.Thr463=) rs765596595 0.00002
NM_153717.3(EVC):c.1539C>T (p.Thr513=) rs549251750 0.00002
NM_153717.3(EVC):c.1581C>T (p.Thr527=) rs748792939 0.00002
NM_153717.3(EVC):c.1872C>T (p.Gly624=) rs374432399 0.00002
NM_153717.3(EVC):c.2098-4C>G rs771784128 0.00002
NM_153717.3(EVC):c.225C>T (p.Thr75=) rs200161588 0.00002
NM_153717.3(EVC):c.2331G>A (p.Glu777=) rs749197907 0.00002
NM_153717.3(EVC):c.2334C>T (p.Ser778=) rs754983705 0.00002
NM_153717.3(EVC):c.2449+8A>C rs575130220 0.00002
NM_153717.3(EVC):c.246A>G (p.Pro82=) rs144606687 0.00002
NM_153717.3(EVC):c.2894+9G>C rs776278582 0.00002
NM_153717.3(EVC):c.384+19A>G rs200666993 0.00002
NM_153717.3(EVC):c.411G>A (p.Pro137=) rs758770136 0.00002
NM_153717.3(EVC):c.474C>T (p.Ser158=) rs751812626 0.00002
NM_153717.3(EVC):c.519C>T (p.Ser173=) rs1287616282 0.00002
NM_153717.3(EVC):c.660C>T (p.Asp220=) rs200294295 0.00002
NM_153717.3(EVC):c.702+8G>A rs757444170 0.00002
NM_153717.3(EVC):c.801+16A>G rs774227453 0.00002
NM_153717.3(EVC):c.801+8T>C rs1388494242 0.00002
NM_170707.4(LMNA):c.1857T>C (p.Ser619=) rs368581237 0.00002
NM_000141.5(FGFR2):c.1155C>G (p.Val385=) rs531426519 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.1335G>T (p.Val445=) rs1460282965 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.755C>T (p.Ser252Leu) rs79184941 0.00001
NM_000474.4(TWIST1):c.546G>T (p.Arg182=) rs115322362 0.00001
NM_000557.5(GDF5):c.1104C>T (p.Thr368=) rs748907807 0.00001
NM_001039958.2(MESP2):c.669G>C (p.Pro223=) rs760409825 0.00001
NM_001039958.2(MESP2):c.885G>C (p.Thr295=) rs761196555 0.00001
NM_001040167.2(LFNG):c.1140G>A (p.Ter380=) rs1780013685 0.00001
NM_001040167.2(LFNG):c.213G>A (p.Val71=) rs1446332005 0.00001
NM_001040167.2(LFNG):c.357C>G (p.Val119=) rs764696423 0.00001
NM_001040167.2(LFNG):c.57C>T (p.Ala19=) rs1779736182 0.00001
NM_001040167.2(LFNG):c.736-18C>T rs375297351 0.00001
NM_001040167.2(LFNG):c.821+9C>T rs1223314866 0.00001
NM_001102564.3(IFT43):c.195T>A (p.Gly65=) rs766606545 0.00001
NM_001102564.3(IFT43):c.368+17A>T rs759453395 0.00001
NM_001148.6(ANK2):c.7951G>C (p.Val2651Leu) rs777477439 0.00001
NM_001174147.2(LMX1B):c.1052-19C>T rs770215617 0.00001
NM_001174147.2(LMX1B):c.1078G>A (p.Asp360Asn) rs772632723 0.00001
NM_001174147.2(LMX1B):c.432C>T (p.Cys144=) rs375657880 0.00001
NM_001174147.2(LMX1B):c.535G>A (p.Val179Met) rs181422024 0.00001
NM_001271938.2(MEGF8):c.123A>G (p.Pro41=) rs964840099 0.00001
NM_001271938.2(MEGF8):c.1791T>C (p.Cys597=) rs777831498 0.00001
NM_001271938.2(MEGF8):c.3378G>A (p.Val1126=) rs780556649 0.00001
NM_001271938.2(MEGF8):c.3804C>T (p.Leu1268=) rs780442723 0.00001
NM_001271938.2(MEGF8):c.5583A>C (p.Gly1861=) rs746270596 0.00001
NM_001271938.2(MEGF8):c.5853C>A (p.Thr1951=) rs754567747 0.00001
NM_001271938.2(MEGF8):c.6059-16C>T rs760323076 0.00001
NM_001271938.2(MEGF8):c.610C>T (p.Leu204=) rs1351465017 0.00001
NM_001271938.2(MEGF8):c.6261C>T (p.Ser2087=) rs2039558834 0.00001
NM_001271938.2(MEGF8):c.6482-9C>T rs776227273 0.00001
NM_001271938.2(MEGF8):c.6693A>C (p.Ser2231=) rs746097325 0.00001
NM_001271938.2(MEGF8):c.6936C>A (p.Ile2312=) rs764031754 0.00001
NM_001271938.2(MEGF8):c.6966C>T (p.Ser2322=) rs754666704 0.00001
NM_001271938.2(MEGF8):c.7155C>T (p.His2385=) rs775919574 0.00001
NM_001271938.2(MEGF8):c.7368G>A (p.Thr2456=) rs779163527 0.00001
NM_001271938.2(MEGF8):c.8097G>A (p.Lys2699=) rs1461151357 0.00001
NM_001271938.2(MEGF8):c.8223T>G (p.Gly2741=) rs750507989 0.00001
NM_001271938.2(MEGF8):c.948C>A (p.Gly316=) rs971549656 0.00001
NM_001278689.2(EOGT):c.1368C>T (p.Asp456=) rs750519290 0.00001
NM_001278689.2(EOGT):c.1440C>T (p.Gly480=) rs778355816 0.00001
NM_001278689.2(EOGT):c.1488C>T (p.Phe496=) rs771945573 0.00001
NM_001278689.2(EOGT):c.1524T>C (p.Ala508=) rs1575699109 0.00001
NM_001374353.1(GLI2):c.120G>A (p.Ala40=) rs202130125 0.00001
NM_001374353.1(GLI2):c.123A>G (p.Ala41=) rs200321870 0.00001
NM_001374353.1(GLI2):c.1519C>T (p.Leu507=) rs1205997619 0.00001
NM_001374353.1(GLI2):c.2062G>A (p.Asp688Asn) rs751513015 0.00001
NM_001374353.1(GLI2):c.2208G>A (p.Thr736=) rs372206751 0.00001
NM_001374353.1(GLI2):c.2484C>T (p.Arg828=) rs1190519823 0.00001
NM_001374353.1(GLI2):c.2884C>T (p.Leu962=) rs1345329176 0.00001
NM_001374353.1(GLI2):c.3009C>T (p.Ala1003=) rs770186740 0.00001
NM_001374353.1(GLI2):c.3051C>T (p.Asn1017=) rs751735227 0.00001
NM_001374353.1(GLI2):c.3066C>T (p.Ala1022=) rs1472557461 0.00001
NM_001374353.1(GLI2):c.4350G>A (p.Gln1450=) rs1683233094 0.00001
NM_001374353.1(GLI2):c.595G>A (p.Gly199Ser) rs542892514 0.00001
NM_001374353.1(GLI2):c.819C>T (p.Tyr273=) rs527693910 0.00001
NM_001374353.1(GLI2):c.879C>T (p.Pro293=) rs1318325355 0.00001
NM_001379081.2(FREM1):c.246C>T (p.Cys82=) rs766485109 0.00001
NM_001384732.1(CPLANE1):c.1121+7C>T rs776591358 0.00001
NM_001384732.1(CPLANE1):c.2208T>C (p.Ser736=) rs1561663335 0.00001
NM_001384732.1(CPLANE1):c.2501-7T>C rs1315683149 0.00001
NM_001384732.1(CPLANE1):c.4230T>C (p.Ser1410=) rs571145214 0.00001
NM_001384732.1(CPLANE1):c.6309T>G (p.Cys2103Trp) rs749862200 0.00001
NM_001384732.1(CPLANE1):c.6463-17T>C rs753835579 0.00001
NM_001384732.1(CPLANE1):c.7401-14A>G rs1052354484 0.00001
NM_001384732.1(CPLANE1):c.7428G>T (p.Leu2476=) rs145750519 0.00001
NM_001384732.1(CPLANE1):c.7641A>G (p.Val2547=) rs771793682 0.00001
NM_001384732.1(CPLANE1):c.8461+19G>A rs772961080 0.00001
NM_001429.4(EP300):c.12T>C (p.Asn4=) rs758604225 0.00001
NM_001429.4(EP300):c.1316A>G (p.Asn439Ser) rs746628829 0.00001
NM_001429.4(EP300):c.1508T>C (p.Met503Thr) rs1185038602 0.00001
NM_001429.4(EP300):c.1874A>G (p.Asn625Ser) rs775426461 0.00001
NM_001429.4(EP300):c.2062C>T (p.Leu688=) rs767283642 0.00001
NM_001429.4(EP300):c.2145T>C (p.Phe715=) rs750344330 0.00001
NM_001429.4(EP300):c.214C>A (p.Gln72Lys) rs539635560 0.00001
NM_001429.4(EP300):c.2279A>G (p.Asn760Ser) rs374502005 0.00001
NM_001429.4(EP300):c.2348C>T (p.Ala783Val) rs755619355 0.00001
NM_001429.4(EP300):c.2513G>A (p.Arg838His) rs774840930 0.00001
NM_001429.4(EP300):c.2609C>T (p.Pro870Leu) rs540935486 0.00001
NM_001429.4(EP300):c.2975C>A (p.Thr992Asn) rs760974878 0.00001
NM_001429.4(EP300):c.302G>A (p.Gly101Asp) rs879722959 0.00001
NM_001429.4(EP300):c.3501+17A>G rs774004879 0.00001
NM_001429.4(EP300):c.3502-9C>A rs752128445 0.00001
NM_001429.4(EP300):c.3573T>C (p.Tyr1191=) rs565779970 0.00001
NM_001429.4(EP300):c.359G>A (p.Ser120Asn) rs1303897359 0.00001
NM_001429.4(EP300):c.3875-8A>C rs747796024 0.00001
NM_001429.4(EP300):c.4509T>C (p.Tyr1503=) rs373428278 0.00001
NM_001429.4(EP300):c.4842T>C (p.Asp1614=) rs755816596 0.00001
NM_001429.4(EP300):c.5280G>A (p.Lys1760=) rs148892028 0.00001
NM_001429.4(EP300):c.5440C>A (p.Arg1814=) rs757325753 0.00001
NM_001429.4(EP300):c.6225C>T (p.His2075=) rs543501228 0.00001
NM_001429.4(EP300):c.6473T>C (p.Met2158Thr) rs778354178 0.00001
NM_001429.4(EP300):c.6488C>T (p.Pro2163Leu) rs1013716287 0.00001
NM_001429.4(EP300):c.650A>G (p.Asn217Ser) rs139130083 0.00001
NM_001429.4(EP300):c.6518A>C (p.Asn2173Thr) rs1555912302 0.00001
NM_001429.4(EP300):c.6582A>G (p.Gln2194=) rs761195313 0.00001
NM_001429.4(EP300):c.69C>A (p.Leu23=) rs543993838 0.00001
NM_001429.4(EP300):c.825G>A (p.Gln275=) rs149058635 0.00001
NM_002601.4(PDE6D):c.140-19T>C rs766425103 0.00001
NM_002601.4(PDE6D):c.405C>T (p.Asp135=) rs373459369 0.00001
NM_002601.4(PDE6D):c.50+11G>C rs758184957 0.00001
NM_002601.4(PDE6D):c.50+18G>A rs747869732 0.00001
NM_003036.4(SKI):c.1005A>G (p.Lys335=) rs1057524639 0.00001
NM_003036.4(SKI):c.1032C>T (p.Pro344=) rs766656095 0.00001
NM_003036.4(SKI):c.1070G>A (p.Arg357Gln) rs200874294 0.00001
NM_003036.4(SKI):c.1152C>T (p.Pro384=) rs200160702 0.00001
NM_003036.4(SKI):c.1188C>T (p.His396=) rs998931386 0.00001
NM_003036.4(SKI):c.1212-13C>G rs754988590 0.00001
NM_003036.4(SKI):c.129G>A (p.Ala43=) rs1313492083 0.00001
NM_003036.4(SKI):c.1301C>T (p.Pro434Leu) rs768068601 0.00001
NM_003036.4(SKI):c.1314C>T (p.Ala438=) rs554715623 0.00001
NM_003036.4(SKI):c.1317C>T (p.Val439=) rs1446526482 0.00001
NM_003036.4(SKI):c.1339G>A (p.Ala447Thr) rs1325458157 0.00001
NM_003036.4(SKI):c.1411G>T (p.Val471Leu) rs745717087 0.00001
NM_003036.4(SKI):c.1422A>T (p.Pro474=) rs772286488 0.00001
NM_003036.4(SKI):c.1428G>C (p.Glu476Asp) rs776816870 0.00001
NM_003036.4(SKI):c.1474+8T>A rs1249714928 0.00001
NM_003036.4(SKI):c.1475-5C>T rs1640509294 0.00001
NM_003036.4(SKI):c.1476C>T (p.Phe492=) rs1006090345 0.00001
NM_003036.4(SKI):c.1485C>T (p.Ser495=) rs964817956 0.00001
NM_003036.4(SKI):c.1506G>A (p.Pro502=) rs975738197 0.00001
NM_003036.4(SKI):c.1521C>T (p.Ser507=) rs1430227962 0.00001
NM_003036.4(SKI):c.1530C>T (p.Ala510=) rs1216089588 0.00001
NM_003036.4(SKI):c.1548G>A (p.Pro516=) rs1239990628 0.00001
NM_003036.4(SKI):c.1554G>A (p.Ala518=) rs770050757 0.00001
NM_003036.4(SKI):c.1572C>T (p.Ala524=) rs1285131836 0.00001
NM_003036.4(SKI):c.1620G>A (p.Ala540=) rs529842293 0.00001
NM_003036.4(SKI):c.163G>C (p.Ala55Pro) rs769506718 0.00001
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr) rs370558210 0.00001
NM_003036.4(SKI):c.1739C>T (p.Ala580Val) rs1397350089 0.00001
NM_003036.4(SKI):c.1767+7G>A rs199962561 0.00001
NM_003036.4(SKI):c.1768-4C>T rs200246585 0.00001
NM_003036.4(SKI):c.1797G>A (p.Lys599=) rs767488534 0.00001
NM_003036.4(SKI):c.1833C>T (p.Asn611=) rs1557853907 0.00001
NM_003036.4(SKI):c.1860C>T (p.Arg620=) rs1002513362 0.00001
NM_003036.4(SKI):c.1878G>A (p.Lys626=) rs761614569 0.00001
NM_003036.4(SKI):c.1914G>A (p.Lys638=) rs752864137 0.00001
NM_003036.4(SKI):c.1998+9G>A rs533071160 0.00001
NM_003036.4(SKI):c.1999-11C>T rs1022360604 0.00001
NM_003036.4(SKI):c.1999-18C>T rs762184119 0.00001
NM_003036.4(SKI):c.1999-9C>T rs369496789 0.00001
NM_003036.4(SKI):c.2052G>T (p.Leu684=) rs1271020892 0.00001
NM_003036.4(SKI):c.2058C>T (p.Ala686=) rs1171554207 0.00001
NM_003036.4(SKI):c.2092C>T (p.Leu698=) rs766929334 0.00001
NM_003036.4(SKI):c.2128T>C (p.Trp710Arg) rs863223728 0.00001
NM_003036.4(SKI):c.2133G>A (p.Pro711=) rs1640594973 0.00001
NM_003036.4(SKI):c.2138C>T (p.Ala713Val) rs1160688025 0.00001
NM_003036.4(SKI):c.2154G>A (p.Ala718=) rs778456446 0.00001
NM_003036.4(SKI):c.2172G>A (p.Ala724=) rs879070309 0.00001
NM_003036.4(SKI):c.258G>C (p.Leu86=) rs780679449 0.00001
NM_003036.4(SKI):c.300C>T (p.Arg100=) rs1286311989 0.00001
NM_003036.4(SKI):c.324G>A (p.Glu108=) rs201144990 0.00001
NM_003036.4(SKI):c.330C>T (p.Ile110=) rs764373577 0.00001
NM_003036.4(SKI):c.405G>T (p.Ser135=) rs769774481 0.00001
NM_003036.4(SKI):c.438C>T (p.Leu146=) rs371061756 0.00001
NM_003036.4(SKI):c.45G>A (p.Pro15=) rs762947696 0.00001
NM_003036.4(SKI):c.480C>T (p.Ile160=) rs952491836 0.00001
NM_003036.4(SKI):c.495C>T (p.Gly165=) rs749438586 0.00001
NM_003036.4(SKI):c.498C>T (p.Ile166=) rs768733290 0.00001
NM_003036.4(SKI):c.553C>T (p.Leu185=) rs753251990 0.00001
NM_003036.4(SKI):c.573C>T (p.Tyr191=) rs777704639 0.00001
NM_003036.4(SKI):c.611C>T (p.Ala204Val) rs772336192 0.00001
NM_003036.4(SKI):c.648C>G (p.Arg216=) rs1398417113 0.00001
NM_003036.4(SKI):c.663C>T (p.Tyr221=) rs762684190 0.00001
NM_003036.4(SKI):c.691C>T (p.Leu231=) rs1191109372 0.00001
NM_003036.4(SKI):c.699G>T (p.Val233=) rs1174147537 0.00001
NM_003036.4(SKI):c.702C>G (p.Pro234=) rs1057523205 0.00001
NM_003036.4(SKI):c.72C>T (p.Phe24=) rs953342598 0.00001
NM_003036.4(SKI):c.75C>T (p.His25=) rs1486448334 0.00001
NM_003036.4(SKI):c.81C>T (p.Ser27=) rs755325222 0.00001
NM_003036.4(SKI):c.900C>A (p.Leu300=) rs747649658 0.00001
NM_003036.4(SKI):c.906C>T (p.Arg302=) rs772758586 0.00001
NM_003036.4(SKI):c.918C>T (p.Asp306=) rs776475482 0.00001
NM_003036.4(SKI):c.942C>T (p.Gly314=) rs1245622958 0.00001
NM_003036.4(SKI):c.970-10T>C rs750601690 0.00001
NM_003036.4(SKI):c.970-11A>G rs1640462475 0.00001
NM_003722.5(TP63):c.156A>G (p.Pro52=) rs780898702 0.00001
NM_003722.5(TP63):c.992+4A>C rs534974406 0.00001
NM_004260.4(RECQL4):c.1014C>T (p.Pro338=) rs373657692 0.00001
NM_004260.4(RECQL4):c.1020C>T (p.His340=) rs760928279 0.00001
NM_004260.4(RECQL4):c.1044T>C (p.His348=) rs754473947 0.00001
NM_004260.4(RECQL4):c.1053C>T (p.Gly351=) rs1355050231 0.00001
NM_004260.4(RECQL4):c.1059C>T (p.Tyr353=) rs750709443 0.00001
NM_004260.4(RECQL4):c.105G>A (p.Pro35=) rs1303907631 0.00001
NM_004260.4(RECQL4):c.1062A>G (p.Val354=) rs774698155 0.00001
NM_004260.4(RECQL4):c.1125C>A (p.Arg375=) rs560231629 0.00001
NM_004260.4(RECQL4):c.1131+14G>A rs768489339 0.00001
NM_004260.4(RECQL4):c.1131+8A>G rs932213064 0.00001
NM_004260.4(RECQL4):c.1132-10C>T rs555738992 0.00001
NM_004260.4(RECQL4):c.1140G>A (p.Lys380=) rs1159732841 0.00001
NM_004260.4(RECQL4):c.1173G>A (p.Gly391=) rs780235892 0.00001
NM_004260.4(RECQL4):c.118+8C>T rs1157702150 0.00001
NM_004260.4(RECQL4):c.118+9G>A rs1472638346 0.00001
NM_004260.4(RECQL4):c.1188A>G (p.Thr396=) rs1002397552 0.00001
NM_004260.4(RECQL4):c.119-5C>A rs759011490 0.00001
NM_004260.4(RECQL4):c.1209T>C (p.Cys403=) rs949806741 0.00001
NM_004260.4(RECQL4):c.1218C>T (p.Asn406=) rs760132114 0.00001
NM_004260.4(RECQL4):c.1221G>A (p.Glu407=) rs1036693573 0.00001
NM_004260.4(RECQL4):c.1227C>T (p.Phe409=) rs1060504219 0.00001
NM_004260.4(RECQL4):c.123C>T (p.Leu41=) rs771451032 0.00001
NM_004260.4(RECQL4):c.1251C>T (p.Pro417=) rs1060504213 0.00001
NM_004260.4(RECQL4):c.1258+15C>G rs754841430 0.00001
NM_004260.4(RECQL4):c.1259-18C>T rs773365191 0.00001
NM_004260.4(RECQL4):c.1275A>G (p.Thr425=) rs1586817653 0.00001
NM_004260.4(RECQL4):c.1287G>T (p.Gly429=) rs1327623229 0.00001
NM_004260.4(RECQL4):c.1326G>A (p.Glu442=) rs1184969354 0.00001
NM_004260.4(RECQL4):c.1347C>T (p.Thr449=) rs200763671 0.00001
NM_004260.4(RECQL4):c.1353G>A (p.Leu451=) rs1482137668 0.00001
NM_004260.4(RECQL4):c.1359C>G (p.Leu453=) rs1331671057 0.00001
NM_004260.4(RECQL4):c.1384T>C (p.Leu462=) rs759459549 0.00001
NM_004260.4(RECQL4):c.1390+10C>T rs1211903875 0.00001
NM_004260.4(RECQL4):c.1390+12G>C rs1256370377 0.00001
NM_004260.4(RECQL4):c.1390+13C>T rs925181039 0.00001
NM_004260.4(RECQL4):c.1390+14T>A rs1483677181 0.00001
NM_004260.4(RECQL4):c.1390+16C>T rs772882711 0.00001
NM_004260.4(RECQL4):c.1390+20C>T rs747705426 0.00001
NM_004260.4(RECQL4):c.1390+8G>A rs746758227 0.00001
NM_004260.4(RECQL4):c.1390+9T>G rs1314895802 0.00001
NM_004260.4(RECQL4):c.1391-7T>C rs566362207 0.00001
NM_004260.4(RECQL4):c.1422G>A (p.Glu474=) rs540385009 0.00001
NM_004260.4(RECQL4):c.142C>T (p.Leu48=) rs1273649766 0.00001
NM_004260.4(RECQL4):c.1461T>C (p.Arg487=) rs1827974826 0.00001
NM_004260.4(RECQL4):c.1464A>C (p.Ala488=) rs557734785 0.00001
NM_004260.4(RECQL4):c.1477C>T (p.Leu493=) rs1352827683 0.00001
NM_004260.4(RECQL4):c.1483+8T>C rs1827968502 0.00001
NM_004260.4(RECQL4):c.1484-10C>T rs1307887954 0.00001
NM_004260.4(RECQL4):c.1484-12C>T rs775255999 0.00001
NM_004260.4(RECQL4):c.1484-3C>T rs372583903 0.00001
NM_004260.4(RECQL4):c.1498C>T (p.Leu500=) rs892424433 0.00001
NM_004260.4(RECQL4):c.1518C>T (p.Ala506=) rs757280460 0.00001
NM_004260.4(RECQL4):c.1524G>A (p.Lys508=) rs1564801666 0.00001
NM_004260.4(RECQL4):c.1554C>T (p.Leu518=) rs780249574 0.00001
NM_004260.4(RECQL4):c.1560C>T (p.Ser520=) rs1827942611 0.00001
NM_004260.4(RECQL4):c.1575C>T (p.Cys525=) rs1318317428 0.00001
NM_004260.4(RECQL4):c.1590C>T (p.Val530=) rs762167003 0.00001
NM_004260.4(RECQL4):c.1597C>T (p.Leu533=) rs769939735 0.00001
NM_004260.4(RECQL4):c.1599G>A (p.Leu533=) rs1827932871 0.00001
NM_004260.4(RECQL4):c.1600C>T (p.Leu534=) rs1227993301 0.00001
NM_004260.4(RECQL4):c.1620+12G>C rs373765720 0.00001
NM_004260.4(RECQL4):c.1620+13G>A rs1564801038 0.00001
NM_004260.4(RECQL4):c.1620+15C>T rs762377220 0.00001
NM_004260.4(RECQL4):c.1620+8C>T rs1186876956 0.00001
NM_004260.4(RECQL4):c.1620+9A>G rs779520713 0.00001
NM_004260.4(RECQL4):c.1621-4G>C rs765558442 0.00001
NM_004260.4(RECQL4):c.1650G>A (p.Ala550=) rs770513069 0.00001
NM_004260.4(RECQL4):c.1653C>G (p.Ala551=) rs748651173 0.00001
NM_004260.4(RECQL4):c.1656C>T (p.Cys552=) rs1194078242 0.00001
NM_004260.4(RECQL4):c.1674C>T (p.Thr558=) rs1328875137 0.00001
NM_004260.4(RECQL4):c.1683A>G (p.Gln561=) rs1332576218 0.00001
NM_004260.4(RECQL4):c.1704+19T>C rs1043491319 0.00001
NM_004260.4(RECQL4):c.1705-15T>C rs757557206 0.00001
NM_004260.4(RECQL4):c.1722A>G (p.Val574=) rs1052177697 0.00001
NM_004260.4(RECQL4):c.1725C>T (p.His575=) rs773841916 0.00001
NM_004260.4(RECQL4):c.1746G>A (p.Glu582=) rs965194395 0.00001
NM_004260.4(RECQL4):c.1767C>T (p.Gly589=) rs1485975717 0.00001
NM_004260.4(RECQL4):c.1770C>T (p.Leu590=) rs377398995 0.00001
NM_004260.4(RECQL4):c.1776A>G (p.Pro592=) rs1025483401 0.00001
NM_004260.4(RECQL4):c.1797T>C (p.Val599=) rs776984776 0.00001
NM_004260.4(RECQL4):c.1806C>A (p.Ala602=) rs772219901 0.00001
NM_004260.4(RECQL4):c.1824C>T (p.His608=) rs1308085391 0.00001
NM_004260.4(RECQL4):c.1827C>T (p.Cys609=) rs371310357 0.00001
NM_004260.4(RECQL4):c.1848C>T (p.Asn616=) rs758924887 0.00001
NM_004260.4(RECQL4):c.1863C>T (p.Tyr621=) rs1208882721 0.00001
NM_004260.4(RECQL4):c.1878+10A>G rs754518967 0.00001
NM_004260.4(RECQL4):c.1878+11T>C rs532723123 0.00001
NM_004260.4(RECQL4):c.1879-13G>C rs185203465 0.00001
NM_004260.4(RECQL4):c.1879-14C>T rs757633347 0.00001
NM_004260.4(RECQL4):c.1879-4G>A rs759652449 0.00001
NM_004260.4(RECQL4):c.1879-8T>C rs1205977002 0.00001
NM_004260.4(RECQL4):c.1879-9C>G rs377339114 0.00001
NM_004260.4(RECQL4):c.18C>T (p.Asp6=) rs1168671636 0.00001
NM_004260.4(RECQL4):c.1902G>A (p.Val634=) rs1395441455 0.00001
NM_004260.4(RECQL4):c.1932C>T (p.Ala644=) rs1368388528 0.00001
NM_004260.4(RECQL4):c.1941C>T (p.Arg647=) rs780721989 0.00001
NM_004260.4(RECQL4):c.1965C>T (p.His655=) rs1060504209 0.00001
NM_004260.4(RECQL4):c.1977T>C (p.Ala659=) rs1477564052 0.00001
NM_004260.4(RECQL4):c.1995C>T (p.His665=) rs759235313 0.00001
NM_004260.4(RECQL4):c.2013C>T (p.Pro671=) rs746465216 0.00001
NM_004260.4(RECQL4):c.2022G>A (p.Leu674=) rs1051632635 0.00001
NM_004260.4(RECQL4):c.2025C>T (p.His675=) rs779458343 0.00001
NM_004260.4(RECQL4):c.2043C>T (p.Asp681=) rs1827766753 0.00001
NM_004260.4(RECQL4):c.2046G>A (p.Arg682=) rs558318269 0.00001
NM_004260.4(RECQL4):c.204G>T (p.Ala68=) rs904506458 0.00001
NM_004260.4(RECQL4):c.2058+16C>T rs1827760199 0.00001
NM_004260.4(RECQL4):c.2058+8T>G rs1228916625 0.00001
NM_004260.4(RECQL4):c.2059-6C>T rs375702394 0.00001
NM_004260.4(RECQL4):c.2059-8C>T rs777819705 0.00001
NM_004260.4(RECQL4):c.2059-9C>T rs1267808558 0.00001
NM_004260.4(RECQL4):c.2071C>T (p.Leu691=) rs1330868114 0.00001
NM_004260.4(RECQL4):c.2074C>T (p.Leu692=) rs1302487162 0.00001
NM_004260.4(RECQL4):c.2076G>A (p.Leu692=) rs755812839 0.00001
NM_004260.4(RECQL4):c.2091T>C (p.Phe697=) rs386833850 0.00001
NM_004260.4(RECQL4):c.2100C>T (p.Leu700=) rs775812008 0.00001
NM_004260.4(RECQL4):c.2106C>T (p.Ser702=) rs1483388530 0.00001
NM_004260.4(RECQL4):c.213+10C>A rs565610567 0.00001
NM_004260.4(RECQL4):c.213+14G>A rs777615628 0.00001
NM_004260.4(RECQL4):c.213+18C>T rs747922918 0.00001
NM_004260.4(RECQL4):c.213+20C>T rs778712818 0.00001
NM_004260.4(RECQL4):c.213+7dup rs760933755 0.00001
NM_004260.4(RECQL4):c.2133G>A (p.Glu711=) rs757809740 0.00001
NM_004260.4(RECQL4):c.214-14G>C rs749914535 0.00001
NM_004260.4(RECQL4):c.214-18C>T rs748051491 0.00001
NM_004260.4(RECQL4):c.214-7C>T rs1047492140 0.00001
NM_004260.4(RECQL4):c.2142G>A (p.Glu714=) rs1267959360 0.00001
NM_004260.4(RECQL4):c.2157C>T (p.Leu719=) rs781172674 0.00001
NM_004260.4(RECQL4):c.2200+10G>A rs777700633 0.00001
NM_004260.4(RECQL4):c.2200+8A>G rs746744670 0.00001
NM_004260.4(RECQL4):c.2200+9T>C rs993836908 0.00001
NM_004260.4(RECQL4):c.2201-5C>T rs764321990 0.00001
NM_004260.4(RECQL4):c.2201-8C>T rs200942592 0.00001
NM_004260.4(RECQL4):c.2250C>T (p.Ser750=) rs761639839 0.00001
NM_004260.4(RECQL4):c.2280C>T (p.Phe760=) rs1060504217 0.00001
NM_004260.4(RECQL4):c.2301G>A (p.Val767=) rs1442614863 0.00001
NM_004260.4(RECQL4):c.2310C>T (p.Ala770=) rs1440926889 0.00001
NM_004260.4(RECQL4):c.2313G>A (p.Thr771=) rs747577031 0.00001
NM_004260.4(RECQL4):c.2331G>A (p.Gly777=) rs1391751255 0.00001
NM_004260.4(RECQL4):c.2343A>G (p.Pro781=) rs1060504215 0.00001
NM_004260.4(RECQL4):c.2346T>C (p.Asp782=) rs752556078 0.00001
NM_004260.4(RECQL4):c.2349G>A (p.Val783=) rs759285126 0.00001
NM_004260.4(RECQL4):c.2376C>T (p.Pro792=) rs768878258 0.00001
NM_004260.4(RECQL4):c.2379A>G (p.Pro793=) rs780098660 0.00001
NM_004260.4(RECQL4):c.2388G>A (p.Glu796=) rs1378138545 0.00001
NM_004260.4(RECQL4):c.2400G>A (p.Gln800=) rs752611044 0.00001
NM_004260.4(RECQL4):c.2403C>T (p.Ala801=) rs778794472 0.00001
NM_004260.4(RECQL4):c.2439C>T (p.His813=) rs1286459245 0.00001
NM_004260.4(RECQL4):c.2451C>T (p.Phe817=) rs778652987 0.00001
NM_004260.4(RECQL4):c.2457G>A (p.Gln819=) rs754819629 0.00001
NM_004260.4(RECQL4):c.2463+8C>A rs1294337454 0.00001
NM_004260.4(RECQL4):c.2463+9C>A rs756789862 0.00001
NM_004260.4(RECQL4):c.2464-10T>C rs1223207832 0.00001
NM_004260.4(RECQL4):c.2464-6C>G rs1172497739 0.00001
NM_004260.4(RECQL4):c.2464-8C>T rs373671393 0.00001
NM_004260.4(RECQL4):c.2489G>A (p.Arg830Lys) rs747748330 0.00001
NM_004260.4(RECQL4):c.2490A>G (p.Arg830=) rs778386703 0.00001
NM_004260.4(RECQL4):c.2511G>A (p.Thr837=) rs772866964 0.00001
NM_004260.4(RECQL4):c.2514C>T (p.Asp838=) rs771820219 0.00001
NM_004260.4(RECQL4):c.2518C>T (p.Leu840=) rs201106179 0.00001
NM_004260.4(RECQL4):c.2529G>A (p.Lys843=) rs1554897835 0.00001
NM_004260.4(RECQL4):c.2532G>A (p.Arg844=) rs1220237491 0.00001
NM_004260.4(RECQL4):c.2541G>A (p.Gln847=) rs1363463026 0.00001
NM_004260.4(RECQL4):c.2554_2565dup (p.Ala852_Cys855dup) rs1363648649 0.00001
NM_004260.4(RECQL4):c.2556C>G (p.Ala852=) rs1827553201 0.00001
NM_004260.4(RECQL4):c.2571C>T (p.Cys857=) rs368088860 0.00001
NM_004260.4(RECQL4):c.2628G>A (p.Lys876=) rs1195462139 0.00001
NM_004260.4(RECQL4):c.2631C>T (p.Tyr877=) rs762591075 0.00001
NM_004260.4(RECQL4):c.2643G>A (p.Glu881=) rs984194524 0.00001
NM_004260.4(RECQL4):c.2664A>G (p.Gln888=) rs779076624 0.00001
NM_004260.4(RECQL4):c.2685G>A (p.Arg895=) rs1259701902 0.00001
NM_004260.4(RECQL4):c.2697C>T (p.Gly899=) rs1237280502 0.00001
NM_004260.4(RECQL4):c.2706G>A (p.Arg902=) rs772512105 0.00001
NM_004260.4(RECQL4):c.2718A>T (p.Ile906=) rs1010167633 0.00001
NM_004260.4(RECQL4):c.2727C>T (p.Thr909=) rs757228367 0.00001
NM_004260.4(RECQL4):c.2730A>T (p.Val910=) rs547042284 0.00001
NM_004260.4(RECQL4):c.2733G>A (p.Gln911=) rs1027496890 0.00001
NM_004260.4(RECQL4):c.2755+10C>T rs775596331 0.00001
NM_004260.4(RECQL4):c.2755+16T>C rs758340142 0.00001
NM_004260.4(RECQL4):c.2755+17A>C rs1269526311 0.00001
NM_004260.4(RECQL4):c.2755+9C>A rs749496256 0.00001
NM_004260.4(RECQL4):c.2756-10C>T rs748950139 0.00001
NM_004260.4(RECQL4):c.2756-12C>A rs1330035449 0.00001
NM_004260.4(RECQL4):c.2756-15C>T rs778593672 0.00001
NM_004260.4(RECQL4):c.2756-5C>T rs541518527 0.00001
NM_004260.4(RECQL4):c.2763G>A (p.Glu921=) rs763244862 0.00001
NM_004260.4(RECQL4):c.2775C>T (p.Cys925=) rs376838923 0.00001
NM_004260.4(RECQL4):c.2805G>A (p.Leu935=) rs371434213 0.00001
NM_004260.4(RECQL4):c.2811G>A (p.Leu937=) rs368178215 0.00001
NM_004260.4(RECQL4):c.2823C>T (p.Thr941=) rs1827479732 0.00001
NM_004260.4(RECQL4):c.2826T>C (p.Tyr942=) rs1268031609 0.00001
NM_004260.4(RECQL4):c.2832T>C (p.His944=) rs754047453 0.00001
NM_004260.4(RECQL4):c.2841G>A (p.Leu947=) rs1827476523 0.00001
NM_004260.4(RECQL4):c.2865G>A (p.Gln955=) rs1417243858 0.00001
NM_004260.4(RECQL4):c.2871G>A (p.Gln957=) rs548485975 0.00001
NM_004260.4(RECQL4):c.2880C>T (p.Ala960=) rs766684128 0.00001
NM_004260.4(RECQL4):c.2885+19G>A rs759319751 0.00001
NM_004260.4(RECQL4):c.2885+8C>T rs370547126 0.00001
NM_004260.4(RECQL4):c.2886-10C>T rs1060504220 0.00001
NM_004260.4(RECQL4):c.2886-12C>T rs200998618 0.00001
NM_004260.4(RECQL4):c.2886-5C>T rs1004279093 0.00001
NM_004260.4(RECQL4):c.2886-7G>C rs757341042 0.00001
NM_004260.4(RECQL4):c.2913C>T (p.Ala971=) rs761367235 0.00001
NM_004260.4(RECQL4):c.2926G>A (p.Glu976Lys) rs35070885 0.00001
NM_004260.4(RECQL4):c.2937G>A (p.Gly979=) rs1434652198 0.00001
NM_004260.4(RECQL4):c.2955G>A (p.Val985=) rs1244297736 0.00001
NM_004260.4(RECQL4):c.2976G>C (p.Leu992=) rs775795557 0.00001
NM_004260.4(RECQL4):c.297G>A (p.Gln99=) rs745626745 0.00001
NM_004260.4(RECQL4):c.2982C>T (p.Asp994=) rs770209478 0.00001
NM_004260.4(RECQL4):c.2985C>T (p.Ser995=) rs980962861 0.00001
NM_004260.4(RECQL4):c.2997G>A (p.Glu999=) rs902652277 0.00001
NM_004260.4(RECQL4):c.2998C>T (p.Leu1000=) rs369172759 0.00001
NM_004260.4(RECQL4):c.3000G>A (p.Leu1000=) rs758339361 0.00001
NM_004260.4(RECQL4):c.3012G>C (p.Arg1004=) rs767281689 0.00001
NM_004260.4(RECQL4):c.3021C>T (p.Leu1007=) rs1301549552 0.00001
NM_004260.4(RECQL4):c.3055+6C>T rs779017449 0.00001
NM_004260.4(RECQL4):c.3056-6C>T rs748382510 0.00001
NM_004260.4(RECQL4):c.3060G>A (p.Val1020=) rs768374433 0.00001
NM_004260.4(RECQL4):c.3090C>T (p.Phe1030=) rs767876394 0.00001
NM_004260.4(RECQL4):c.3144G>A (p.Lys1048=) rs750905339 0.00001
NM_004260.4(RECQL4):c.3147C>T (p.Asp1049=) rs767781957 0.00001
NM_004260.4(RECQL4):c.3156T>C (p.Cys1052=) rs200530038 0.00001
NM_004260.4(RECQL4):c.3195G>A (p.Gln1065=) rs1318054872 0.00001
NM_004260.4(RECQL4):c.3199C>T (p.Leu1067=) rs940883169 0.00001
NM_004260.4(RECQL4):c.3204C>T (p.Ala1068=) rs764423233 0.00001
NM_004260.4(RECQL4):c.3207T>C (p.Arg1069=) rs1060504218 0.00001
NM_004260.4(RECQL4):c.3213C>T (p.Arg1071=) rs774307791 0.00001
NM_004260.4(RECQL4):c.3216A>G (p.Arg1072=) rs1060504212 0.00001
NM_004260.4(RECQL4):c.3236+10A>C rs778112948 0.00001
NM_004260.4(RECQL4):c.3237-10C>T rs1484652365 0.00001
NM_004260.4(RECQL4):c.3237-11C>T rs551712440 0.00001
NM_004260.4(RECQL4):c.3240A>C (p.Val1080=) rs1313455164 0.00001
NM_004260.4(RECQL4):c.3243C>G (p.Ala1081=) rs576322077 0.00001
NM_004260.4(RECQL4):c.324G>A (p.Arg108=) rs767645925 0.00001
NM_004260.4(RECQL4):c.3255C>T (p.Cys1085=) rs779365826 0.00001
NM_004260.4(RECQL4):c.3294C>A (p.Thr1098=) rs753659106 0.00001
NM_004260.4(RECQL4):c.3318C>A (p.Arg1106=) rs781456397 0.00001
NM_004260.4(RECQL4):c.3327G>A (p.Glu1109=) rs992381749 0.00001
NM_004260.4(RECQL4):c.3345G>A (p.Glu1115=) rs750008283 0.00001
NM_004260.4(RECQL4):c.3348G>A (p.Pro1116=) rs368712314 0.00001
NM_004260.4(RECQL4):c.3372C>T (p.Gly1124=) rs777884007 0.00001
NM_004260.4(RECQL4):c.3393+10G>A rs1042489227 0.00001
NM_004260.4(RECQL4):c.3394-10G>A rs770697720 0.00001
NM_004260.4(RECQL4):c.3394-16G>A rs774386060 0.00001
NM_004260.4(RECQL4):c.3394-7C>T rs1273732135 0.00001
NM_004260.4(RECQL4):c.3411C>T (p.Asp1137=) rs754328779 0.00001
NM_004260.4(RECQL4):c.3417C>T (p.Val1139=) rs761157177 0.00001
NM_004260.4(RECQL4):c.3444C>T (p.Ser1148=) rs754479731 0.00001
NM_004260.4(RECQL4):c.3474G>A (p.Arg1158=) rs1060504221 0.00001
NM_004260.4(RECQL4):c.3489C>T (p.Ile1163=) rs1056576166 0.00001
NM_004260.4(RECQL4):c.348C>G (p.Thr116=) rs747642273 0.00001
NM_004260.4(RECQL4):c.3502+15G>T rs1422782410 0.00001
NM_004260.4(RECQL4):c.3502+20A>C rs1564787161 0.00001
NM_004260.4(RECQL4):c.3503-5C>T rs539465528 0.00001
NM_004260.4(RECQL4):c.351G>A (p.Leu117=) rs373085511 0.00001
NM_004260.4(RECQL4):c.354+11G>A rs767703150 0.00001
NM_004260.4(RECQL4):c.354+12G>C rs1248741169 0.00001
NM_004260.4(RECQL4):c.3561C>T (p.Tyr1187=) rs768782202 0.00001
NM_004260.4(RECQL4):c.357C>T (p.Ala119=) rs758460596 0.00001
NM_004260.4(RECQL4):c.3585G>T (p.Leu1195=) rs767956471 0.00001
NM_004260.4(RECQL4):c.366C>T (p.Ala122=) rs1815105153 0.00001
NM_004260.4(RECQL4):c.372C>T (p.Gly124=) rs763770457 0.00001
NM_004260.4(RECQL4):c.423G>A (p.Lys141=) rs374243448 0.00001
NM_004260.4(RECQL4):c.426C>T (p.Pro142=) rs1471399547 0.00001
NM_004260.4(RECQL4):c.429A>G (p.Pro143=) rs763675505 0.00001
NM_004260.4(RECQL4):c.523C>T (p.Leu175=) rs1815057448 0.00001
NM_004260.4(RECQL4):c.535C>T (p.Leu179=) rs1308038651 0.00001
NM_004260.4(RECQL4):c.556C>T (p.Leu186=) rs1171892293 0.00001
NM_004260.4(RECQL4):c.55C>A (p.Arg19=) rs1401366375 0.00001
NM_004260.4(RECQL4):c.604C>T (p.Leu202=) rs61754062 0.00001
NM_004260.4(RECQL4):c.60G>A (p.Arg20=) rs1301904200 0.00001
NM_004260.4(RECQL4):c.612C>T (p.Ala204=) rs1026557548 0.00001
NM_004260.4(RECQL4):c.658C>T (p.Leu220=) rs747576464 0.00001
NM_004260.4(RECQL4):c.666T>C (p.Pro222=) rs752965461 0.00001
NM_004260.4(RECQL4):c.720A>C (p.Ser240=) rs549406424 0.00001
NM_004260.4(RECQL4):c.789A>G (p.Arg263=) rs1430320264 0.00001
NM_004260.4(RECQL4):c.7C>A (p.Arg3=) rs886042531 0.00001
NM_004260.4(RECQL4):c.816C>T (p.Pro272=) rs761367573 0.00001
NM_004260.4(RECQL4):c.840C>T (p.Ser280=) rs1407076588 0.00001
NM_004260.4(RECQL4):c.85-4A>T rs942704068 0.00001
NM_004260.4(RECQL4):c.85-8C>T rs1315086855 0.00001
NM_004260.4(RECQL4):c.852C>T (p.Pro284=) rs1292797558 0.00001
NM_004260.4(RECQL4):c.858G>A (p.Ser286=) rs1712693458 0.00001
NM_004260.4(RECQL4):c.870G>A (p.Gly290=) rs889504089 0.00001
NM_004260.4(RECQL4):c.897A>G (p.Pro299=) rs1554902618 0.00001
NM_004260.4(RECQL4):c.900G>A (p.Gly300=) rs775962155 0.00001
NM_004260.4(RECQL4):c.912G>A (p.Gln304=) rs907136804 0.00001
NM_004260.4(RECQL4):c.915A>C (p.Ala305=) rs1467468546 0.00001
NM_004260.4(RECQL4):c.945G>A (p.Ser315=) rs371593078 0.00001
NM_004260.4(RECQL4):c.957C>T (p.Tyr319=) rs984872657 0.00001
NM_004260.4(RECQL4):c.999T>C (p.Ala333=) rs368084547 0.00001
NM_004260.4(RECQL4):c.99G>T (p.Ala33=) rs546842338 0.00001
NM_004380.3(CREBBP):c.1089T>C (p.His363=) rs969407052 0.00001
NM_004380.3(CREBBP):c.1331-12T>C rs779542354 0.00001
NM_004380.3(CREBBP):c.1520A>G (p.Gln507Arg) rs766320521 0.00001
NM_004380.3(CREBBP):c.1627C>G (p.Pro543Ala) rs947001316 0.00001
NM_004380.3(CREBBP):c.2043C>T (p.Asn681=) rs555628489 0.00001
NM_004380.3(CREBBP):c.2064G>A (p.Pro688=) rs766050154 0.00001
NM_004380.3(CREBBP):c.2557C>A (p.Leu853Met) rs542970560 0.00001
NM_004380.3(CREBBP):c.2626G>A (p.Gly876Arg) rs746552957 0.00001
NM_004380.3(CREBBP):c.2823C>T (p.Thr941=) rs762072105 0.00001
NM_004380.3(CREBBP):c.2835G>A (p.Ser945=) rs745404443 0.00001
NM_004380.3(CREBBP):c.2943A>G (p.Ala981=) rs1053049323 0.00001
NM_004380.3(CREBBP):c.3003C>G (p.Thr1001=) rs61731377 0.00001
NM_004380.3(CREBBP):c.320C>T (p.Pro107Leu) rs766844540 0.00001
NM_004380.3(CREBBP):c.3252C>T (p.Ile1084=) rs190925539 0.00001
NM_004380.3(CREBBP):c.3465C>T (p.Asp1155=) rs1447337021 0.00001
NM_004380.3(CREBBP):c.3485A>G (p.Asn1162Ser) rs148166625 0.00001
NM_004380.3(CREBBP):c.3576C>G (p.Val1192=) rs775872294 0.00001
NM_004380.3(CREBBP):c.3828C>T (p.Asp1276=) rs745617177 0.00001
NM_004380.3(CREBBP):c.3837-18G>A rs780739661 0.00001
NM_004380.3(CREBBP):c.4344C>T (p.Ala1448=) rs777425519 0.00001
NM_004380.3(CREBBP):c.4992C>T (p.Arg1664=) rs756979739 0.00001
NM_004380.3(CREBBP):c.501C>T (p.Ala167=) rs376613398 0.00001
NM_004380.3(CREBBP):c.5346G>A (p.Ala1782=) rs533040964 0.00001
NM_004380.3(CREBBP):c.5709G>A (p.Pro1903=) rs773624477 0.00001
NM_004380.3(CREBBP):c.5796G>A (p.Thr1932=) rs755609198 0.00001
NM_004380.3(CREBBP):c.5836C>G (p.Pro1946Ala) rs1321085895 0.00001
NM_004380.3(CREBBP):c.6054C>T (p.Pro2018=) rs768626011 0.00001
NM_004380.3(CREBBP):c.6228G>A (p.Ser2076=) rs759497776 0.00001
NM_004380.3(CREBBP):c.6279C>T (p.Asn2093=) rs762700575 0.00001
NM_004380.3(CREBBP):c.6282G>A (p.Pro2094=) rs772950054 0.00001
NM_004380.3(CREBBP):c.62G>A (p.Gly21Asp) rs1211983012 0.00001
NM_004380.3(CREBBP):c.6449C>T (p.Pro2150Leu) rs587783512 0.00001
NM_004380.3(CREBBP):c.6450G>A (p.Pro2150=) rs371497730 0.00001
NM_004380.3(CREBBP):c.651C>T (p.Gly217=) rs375403937 0.00001
NM_004380.3(CREBBP):c.6684C>T (p.His2228=) rs138613594 0.00001
NM_004380.3(CREBBP):c.6746G>A (p.Arg2249His) rs794727551 0.00001
NM_004380.3(CREBBP):c.6956A>T (p.His2319Leu) rs587778215 0.00001
NM_004380.3(CREBBP):c.7178G>C (p.Ser2393Thr) rs766962344 0.00001
NM_004380.3(CREBBP):c.7222A>G (p.Met2408Val) rs372005280 0.00001
NM_004380.3(CREBBP):c.7239C>T (p.Asn2413=) rs757539209 0.00001
NM_004380.3(CREBBP):c.825A>C (p.Pro275=) rs370509157 0.00001
NM_004380.3(CREBBP):c.960C>T (p.Thr320=) rs898885851 0.00001
NM_004380.3(CREBBP):c.975+14G>A rs535745718 0.00001
NM_004991.4(MECOM):c.2352T>C (p.Ser784=) rs370860789 0.00001
NM_005515.4(MNX1):c.1193C>T (p.Pro398Leu) rs548959409 0.00001
NM_005515.4(MNX1):c.692-18C>T rs775967115 0.00001
NM_005816.5(CD96):c.*869G>C rs566078679 0.00001
NM_006494.4(ERF):c.247C>A (p.Arg83=) rs766762597 0.00001
NM_006494.4(ERF):c.824T>C (p.Leu275Pro) rs756557668 0.00001
NM_006766.5(KAT6A):c.5776C>G (p.Arg1926Gly) rs900174205 0.00001
NM_012330.4(KAT6B):c.1011A>T (p.Arg337=) rs927389645 0.00001
NM_012330.4(KAT6B):c.121G>A (p.Gly41Arg) rs759479262 0.00001
NM_012330.4(KAT6B):c.1566T>C (p.Ser522=) rs540521199 0.00001
NM_012330.4(KAT6B):c.1667A>T (p.Gln556Leu) rs965354059 0.00001
NM_012330.4(KAT6B):c.1685A>G (p.His562Arg) rs1019373559 0.00001
NM_012330.4(KAT6B):c.1782A>G (p.Arg594=) rs376823181 0.00001
NM_012330.4(KAT6B):c.1865G>A (p.Arg622Gln) rs773318837 0.00001
NM_012330.4(KAT6B):c.2115+13T>A rs375539342 0.00001
NM_012330.4(KAT6B):c.2116-9A>G rs747646395 0.00001
NM_012330.4(KAT6B):c.2373+7G>A rs555317263 0.00001
NM_012330.4(KAT6B):c.282G>A (p.Gly94=) rs569038847 0.00001
NM_012330.4(KAT6B):c.2879G>A (p.Arg960Gln) rs753695521 0.00001
NM_012330.4(KAT6B):c.2926A>C (p.Arg976=) rs749648834 0.00001
NM_012330.4(KAT6B):c.2991G>A (p.Val997=) rs1421489322 0.00001
NM_012330.4(KAT6B):c.3029G>A (p.Arg1010Gln) rs377645098 0.00001
NM_012330.4(KAT6B):c.3117A>G (p.Val1039=) rs779092722 0.00001
NM_012330.4(KAT6B):c.3120A>G (p.Gln1040=) rs1244529911 0.00001
NM_012330.4(KAT6B):c.3154C>T (p.Arg1052Trp) rs747968644 0.00001
NM_012330.4(KAT6B):c.3201G>A (p.Glu1067=) rs764097613 0.00001
NM_012330.4(KAT6B):c.3246A>G (p.Glu1082=) rs533495849 0.00001
NM_012330.4(KAT6B):c.363G>A (p.Pro121=) rs756668320 0.00001
NM_012330.4(KAT6B):c.3900C>G (p.Thr1300=) rs201742830 0.00001
NM_012330.4(KAT6B):c.4080A>G (p.Glu1360=) rs546432678 0.00001
NM_012330.4(KAT6B):c.4311C>T (p.Ala1437=) rs774858121 0.00001
NM_012330.4(KAT6B):c.4632C>T (p.Ala1544=) rs772255130 0.00001
NM_012330.4(KAT6B):c.465G>A (p.Gly155=) rs143630427 0.00001
NM_012330.4(KAT6B):c.4830C>T (p.Ser1610=) rs562072459 0.00001
NM_012330.4(KAT6B):c.5112C>T (p.Cys1704=) rs767983250 0.00001
NM_012330.4(KAT6B):c.5262T>C (p.Cys1754=) rs775997284 0.00001
NM_012330.4(KAT6B):c.5279C>T (p.Pro1760Leu) rs1385883942 0.00001
NM_012330.4(KAT6B):c.5502C>T (p.Tyr1834=) rs756031303 0.00001
NM_012330.4(KAT6B):c.5511C>T (p.Ser1837=) rs757121198 0.00001
NM_012330.4(KAT6B):c.5889A>G (p.Arg1963=) rs1846254881 0.00001
NM_012330.4(KAT6B):c.6014G>A (p.Gly2005Asp) rs141200092 0.00001
NM_012330.4(KAT6B):c.6024C>T (p.Ser2008=) rs929348437 0.00001
NM_012330.4(KAT6B):c.6057C>T (p.Tyr2019=) rs748866707 0.00001
NM_012330.4(KAT6B):c.609T>C (p.His203=) rs766064284 0.00001
NM_012330.4(KAT6B):c.6129C>T (p.His2043=) rs759909977 0.00001
NM_012330.4(KAT6B):c.679C>T (p.Arg227Cys) rs749252195 0.00001
NM_012330.4(KAT6B):c.717T>C (p.Asp239=) rs1416245734 0.00001
NM_012330.4(KAT6B):c.801C>T (p.Ile267=) rs1459841520 0.00001
NM_015631.6(TCTN3):c.1298+17G>A rs776775920 0.00001
NM_015631.6(TCTN3):c.1299-19C>T rs751339831 0.00001
NM_015631.6(TCTN3):c.1338T>A (p.Ile446=) rs2097944339 0.00001
NM_015631.6(TCTN3):c.1590+15A>G rs781078051 0.00001
NM_015631.6(TCTN3):c.222G>A (p.Ser74=) rs913092788 0.00001
NM_015631.6(TCTN3):c.257-11T>G rs1201207763 0.00001
NM_015631.6(TCTN3):c.499+11A>G rs1428675552 0.00001
NM_015631.6(TCTN3):c.499+18G>A rs1386147381 0.00001
NM_015631.6(TCTN3):c.507A>G (p.Leu169=) rs1566075059 0.00001
NM_015631.6(TCTN3):c.531G>A (p.Lys177=) rs199774247 0.00001
NM_015631.6(TCTN3):c.549C>T (p.Phe183=) rs1403001274 0.00001
NM_015631.6(TCTN3):c.606A>G (p.Gln202=) rs777642622 0.00001
NM_015631.6(TCTN3):c.627+18G>A rs763302632 0.00001
NM_015631.6(TCTN3):c.705T>C (p.Ala235=) rs1251898935 0.00001
NM_015631.6(TCTN3):c.889-15T>G rs760597184 0.00001
NM_015631.6(TCTN3):c.889-9C>T rs924437747 0.00001
NM_015631.6(TCTN3):c.945C>T (p.Asn315=) rs763364836 0.00001
NM_015631.6(TCTN3):c.9C>A (p.Thr3=) rs1471002377 0.00001
NM_016277.5(RAB23):c.117G>A (p.Lys39=) rs771469793 0.00001
NM_016277.5(RAB23):c.155+6dup rs761067059 0.00001
NM_016277.5(RAB23):c.184T>C (p.Leu62=) rs779101760 0.00001
NM_016277.5(RAB23):c.218C>T (p.Ala73Val) rs556931606 0.00001
NM_016277.5(RAB23):c.222T>C (p.Ile74=) rs759497648 0.00001
NM_016277.5(RAB23):c.24C>T (p.Val8=) rs752991124 0.00001
NM_016277.5(RAB23):c.327C>T (p.Ala109=) rs370959474 0.00001
NM_016277.5(RAB23):c.333G>A (p.Val111=) rs749833240 0.00001
NM_016277.5(RAB23):c.351A>G (p.Val117=) rs751291871 0.00001
NM_016277.5(RAB23):c.398+10C>T rs897972213 0.00001
NM_016277.5(RAB23):c.398+9G>A rs376839366 0.00001
NM_016277.5(RAB23):c.399-6G>A rs778655052 0.00001
NM_016277.5(RAB23):c.426G>A (p.Arg142=) rs763680429 0.00001
NM_016277.5(RAB23):c.482-9T>G rs777259479 0.00001
NM_016277.5(RAB23):c.48G>C (p.Gly16=) rs1454253077 0.00001
NM_016277.5(RAB23):c.547C>T (p.Leu183=) rs1473586028 0.00001
NM_016277.5(RAB23):c.555T>C (p.His185=) rs765954442 0.00001
NM_016277.5(RAB23):c.574+10T>C rs754164616 0.00001
NM_016277.5(RAB23):c.574+8C>T rs779119268 0.00001
NM_016277.5(RAB23):c.582T>C (p.Phe194=) rs1332930442 0.00001
NM_016277.5(RAB23):c.603C>T (p.His201=) rs372315508 0.00001
NM_016277.5(RAB23):c.627C>T (p.Leu209=) rs1318546806 0.00001
NM_016277.5(RAB23):c.693T>C (p.Phe231=) rs1764796444 0.00001
NM_016277.5(RAB23):c.699C>T (p.Ser233=) rs755447089 0.00001
NM_016277.5(RAB23):c.714A>G (p.Ter238=) rs142290596 0.00001
NM_016277.5(RAB23):c.93A>G (p.Lys31=) rs201735614 0.00001
NM_017617.5(NOTCH1):c.1007T>C (p.Ile336Thr) rs753734433 0.00001
NM_017617.5(NOTCH1):c.1039G>A (p.Gly347Ser) rs746187371 0.00001
NM_017617.5(NOTCH1):c.1094G>A (p.Arg365His) rs775991013 0.00001
NM_017617.5(NOTCH1):c.1099+16C>T rs777024482 0.00001
NM_017617.5(NOTCH1):c.1099+8C>T rs555823368 0.00001
NM_017617.5(NOTCH1):c.1099+9C>T rs1057523772 0.00001
NM_017617.5(NOTCH1):c.1100-13G>A rs762047198 0.00001
NM_017617.5(NOTCH1):c.1100-7T>C rs376603720 0.00001
NM_017617.5(NOTCH1):c.1135A>C (p.Asn379His) rs758017301 0.00001
NM_017617.5(NOTCH1):c.1161C>T (p.Cys387=) rs761176244 0.00001
NM_017617.5(NOTCH1):c.1185G>A (p.Lys395=) rs774399901 0.00001
NM_017617.5(NOTCH1):c.1188C>G (p.Ala396=) rs779573597 0.00001
NM_017617.5(NOTCH1):c.1215G>A (p.Thr405=) rs747864683 0.00001
NM_017617.5(NOTCH1):c.1220C>T (p.Pro407Leu) rs754529382 0.00001
NM_017617.5(NOTCH1):c.1236C>T (p.Asp412=) rs780769573 0.00001
NM_017617.5(NOTCH1):c.123T>C (p.Asn41=) rs1207676067 0.00001
NM_017617.5(NOTCH1):c.1255+15_1255+16del rs775945192 0.00001
NM_017617.5(NOTCH1):c.1255+9C>T rs775401272 0.00001
NM_017617.5(NOTCH1):c.1275T>C (p.His425=) rs1443278185 0.00001
NM_017617.5(NOTCH1):c.1278G>A (p.Ala426=) rs781782610 0.00001
NM_017617.5(NOTCH1):c.1293C>T (p.Asn431=) rs372751855 0.00001
NM_017617.5(NOTCH1):c.1296G>T (p.Thr432=) rs747450858 0.00001
NM_017617.5(NOTCH1):c.1335G>A (p.Thr445=) rs564566136 0.00001
NM_017617.5(NOTCH1):c.1356C>T (p.Asp452=) rs767527946 0.00001
NM_017617.5(NOTCH1):c.1369G>A (p.Val457Ile) rs573153379 0.00001
NM_017617.5(NOTCH1):c.1380G>A (p.Pro460=) rs368963607 0.00001
NM_017617.5(NOTCH1):c.1392C>T (p.Asp464=) rs748499336 0.00001
NM_017617.5(NOTCH1):c.1407C>T (p.Asp469=) rs1405995623 0.00001
NM_017617.5(NOTCH1):c.1441+12G>A rs759506343 0.00001
NM_017617.5(NOTCH1):c.1442-7C>T rs1410661374 0.00001
NM_017617.5(NOTCH1):c.1462G>A (p.Glu488Lys) rs753661188 0.00001
NM_017617.5(NOTCH1):c.1476C>T (p.Asp492=) rs749990260 0.00001
NM_017617.5(NOTCH1):c.1512C>A (p.Arg504=) rs763271019 0.00001
NM_017617.5(NOTCH1):c.1555+17C>A rs760877301 0.00001
NM_017617.5(NOTCH1):c.1555+9C>T rs764637985 0.00001
NM_017617.5(NOTCH1):c.1556-15C>T rs769589921 0.00001
NM_017617.5(NOTCH1):c.1581C>T (p.Tyr527=) rs1299929890 0.00001
NM_017617.5(NOTCH1):c.1619G>A (p.Gly540Asp) rs767618789 0.00001
NM_017617.5(NOTCH1):c.1641C>G (p.Pro547=) rs759501071 0.00001
NM_017617.5(NOTCH1):c.1644C>T (p.Asn548=) rs776488663 0.00001
NM_017617.5(NOTCH1):c.1669+12C>T rs780649182 0.00001
NM_017617.5(NOTCH1):c.1670-7G>T rs1242028632 0.00001
NM_017617.5(NOTCH1):c.1676C>T (p.Thr559Met) rs376055493 0.00001
NM_017617.5(NOTCH1):c.1683G>A (p.Thr561=) rs766351093 0.00001
NM_017617.5(NOTCH1):c.1701C>T (p.Ile567=) rs773932034 0.00001
NM_017617.5(NOTCH1):c.1710C>T (p.Cys570=) rs762590262 0.00001
NM_017617.5(NOTCH1):c.1716C>T (p.Pro572=) rs746366255 0.00001
NM_017617.5(NOTCH1):c.1721C>T (p.Pro574Leu) rs771263341 0.00001
NM_017617.5(NOTCH1):c.1728C>T (p.His576=) rs778012887 0.00001
NM_017617.5(NOTCH1):c.1761C>T (p.Phe587=) rs1176092277 0.00001
NM_017617.5(NOTCH1):c.1788G>A (p.Thr596=) rs925293836 0.00001
NM_017617.5(NOTCH1):c.1815C>T (p.Asn605=) rs781029850 0.00001
NM_017617.5(NOTCH1):c.1838G>A (p.Arg613His) rs369522885 0.00001
NM_017617.5(NOTCH1):c.1842C>T (p.His614=) rs375349485 0.00001
NM_017617.5(NOTCH1):c.1843G>A (p.Gly615Arg) rs764942073 0.00001
NM_017617.5(NOTCH1):c.1904-4T>C rs552137707 0.00001
NM_017617.5(NOTCH1):c.1904-7C>T rs771097212 0.00001
NM_017617.5(NOTCH1):c.1924C>G (p.Leu642Val) rs755740633 0.00001
NM_017617.5(NOTCH1):c.1929T>C (p.Asp643=) rs527323201 0.00001
NM_017617.5(NOTCH1):c.1977C>A (p.Ile659=) rs766577980 0.00001
NM_017617.5(NOTCH1):c.1986C>T (p.Tyr662=) rs749156185 0.00001
NM_017617.5(NOTCH1):c.1987G>A (p.Glu663Lys) rs548000491 0.00001
NM_017617.5(NOTCH1):c.2015-14C>T rs149013721 0.00001
NM_017617.5(NOTCH1):c.2015-8G>T rs1272176843 0.00001
NM_017617.5(NOTCH1):c.2047G>A (p.Ala683Thr) rs756434709 0.00001
NM_017617.5(NOTCH1):c.2115C>T (p.Pro705=) rs777838108 0.00001
NM_017617.5(NOTCH1):c.211G>A (p.Ala71Thr) rs753106233 0.00001
NM_017617.5(NOTCH1):c.2127C>T (p.His709=) rs755898711 0.00001
NM_017617.5(NOTCH1):c.213C>T (p.Ala71=) rs765437443 0.00001
NM_017617.5(NOTCH1):c.2175C>T (p.Cys725=) rs770313470 0.00001
NM_017617.5(NOTCH1):c.2207+9C>T rs751315476 0.00001
NM_017617.5(NOTCH1):c.2261A>G (p.Asn754Ser) rs761072761 0.00001
NM_017617.5(NOTCH1):c.2339G>A (p.Arg780Gln) rs750859847 0.00001
NM_017617.5(NOTCH1):c.2340G>A (p.Arg780=) rs767935604 0.00001
NM_017617.5(NOTCH1):c.2353+15C>T rs773271446 0.00001
NM_017617.5(NOTCH1):c.2464A>G (p.Thr822Ala) rs1245057191 0.00001
NM_017617.5(NOTCH1):c.2468-4G>A rs752696927 0.00001
NM_017617.5(NOTCH1):c.2497T>A (p.Cys833Ser) rs775954717 0.00001
NM_017617.5(NOTCH1):c.2501C>T (p.Ala834Val) rs202144877 0.00001
NM_017617.5(NOTCH1):c.2588-15C>T rs757061203 0.00001
NM_017617.5(NOTCH1):c.2611A>G (p.Asn871Asp) rs200235006 0.00001
NM_017617.5(NOTCH1):c.2631G>A (p.Pro877=) rs777573424 0.00001
NM_017617.5(NOTCH1):c.2643C>T (p.Gly881=) rs750777328 0.00001
NM_017617.5(NOTCH1):c.2667C>T (p.Gly889=) rs770793676 0.00001
NM_017617.5(NOTCH1):c.2675G>A (p.Arg892His) rs199506721 0.00001
NM_017617.5(NOTCH1):c.2692G>A (p.Gly898Ser) rs748777783 0.00001
NM_017617.5(NOTCH1):c.2704C>T (p.Arg902Cys) rs1448345366 0.00001
NM_017617.5(NOTCH1):c.2712C>T (p.Cys904=) rs369645726 0.00001
NM_017617.5(NOTCH1):c.2741-13C>T rs545249713 0.00001
NM_017617.5(NOTCH1):c.2741-9C>A rs758820499 0.00001
NM_017617.5(NOTCH1):c.2745G>A (p.Pro915=) rs766331471 0.00001
NM_017617.5(NOTCH1):c.27C>G (p.Leu9=) rs1422526202 0.00001
NM_017617.5(NOTCH1):c.2806G>A (p.Gly936Ser) rs773847667 0.00001
NM_017617.5(NOTCH1):c.2820T>A (p.Thr940=) rs199912866 0.00001
NM_017617.5(NOTCH1):c.2823C>T (p.Phe941=) rs749408618 0.00001
NM_017617.5(NOTCH1):c.2869G>A (p.Gly957Arg) rs773902766 0.00001
NM_017617.5(NOTCH1):c.2916C>T (p.Pro972=) rs754724517 0.00001
NM_017617.5(NOTCH1):c.2970-15C>G rs749173624 0.00001
NM_017617.5(NOTCH1):c.2983G>A (p.Gly995Ser) rs868369610 0.00001
NM_017617.5(NOTCH1):c.3015C>T (p.Phe1005=) rs991348745 0.00001
NM_017617.5(NOTCH1):c.3033C>T (p.Pro1011=) rs941714067 0.00001
NM_017617.5(NOTCH1):c.3034G>A (p.Gly1012Ser) rs776957107 0.00001
NM_017617.5(NOTCH1):c.3061G>A (p.Asp1021Asn) rs760908627 0.00001
NM_017617.5(NOTCH1):c.3068A>G (p.Asn1023Ser) rs937138982 0.00001
NM_017617.5(NOTCH1):c.3075C>T (p.Cys1025=) rs764208271 0.00001
NM_017617.5(NOTCH1):c.3100G>A (p.Gly1034Ser) rs981281975 0.00001
NM_017617.5(NOTCH1):c.3120C>T (p.Cys1040=) rs1189026962 0.00001
NM_017617.5(NOTCH1):c.3141C>T (p.Cys1047=) rs1221606038 0.00001
NM_017617.5(NOTCH1):c.3172-7T>C rs370144650 0.00001
NM_017617.5(NOTCH1):c.3190G>A (p.Asp1064Asn) rs375931404 0.00001
NM_017617.5(NOTCH1):c.3213C>T (p.Gly1071=) rs528993886 0.00001
NM_017617.5(NOTCH1):c.3231C>T (p.Thr1077=) rs781656729 0.00001
NM_017617.5(NOTCH1):c.3261C>T (p.Ser1087=) rs543586029 0.00001
NM_017617.5(NOTCH1):c.3285C>T (p.Asp1095=) rs770364830 0.00001
NM_017617.5(NOTCH1):c.3326-5C>T rs765346348 0.00001
NM_017617.5(NOTCH1):c.3350A>G (p.Gln1117Arg) rs764816819 0.00001
NM_017617.5(NOTCH1):c.3387C>T (p.His1129=) rs1843117451 0.00001
NM_017617.5(NOTCH1):c.3404C>T (p.Ala1135Val) rs370300490 0.00001
NM_017617.5(NOTCH1):c.3408C>G (p.Gly1136=) rs1171001832 0.00001
NM_017617.5(NOTCH1):c.3441C>T (p.Asp1147=) rs377488165 0.00001
NM_017617.5(NOTCH1):c.3469G>A (p.Gly1157Arg) rs549630973 0.00001
NM_017617.5(NOTCH1):c.3482C>T (p.Thr1161Met) rs769903954 0.00001
NM_017617.5(NOTCH1):c.3495C>T (p.Gly1165=) rs778909557 0.00001
NM_017617.5(NOTCH1):c.3514G>A (p.Val1172Met) rs1234358553 0.00001
NM_017617.5(NOTCH1):c.351C>T (p.Cys117=) rs768642611 0.00001
NM_017617.5(NOTCH1):c.3555C>T (p.Asp1185=) rs530064649 0.00001
NM_017617.5(NOTCH1):c.355C>T (p.Leu119=) rs1458520239 0.00001
NM_017617.5(NOTCH1):c.3570C>A (p.His1190Gln) rs769619561 0.00001
NM_017617.5(NOTCH1):c.3582C>T (p.Asn1194=) rs746547529 0.00001
NM_017617.5(NOTCH1):c.3598G>A (p.Asp1200Asn) rs544640305 0.00001
NM_017617.5(NOTCH1):c.360C>T (p.Leu120=) rs541839947 0.00001
NM_017617.5(NOTCH1):c.3643+10G>A rs1159458812 0.00001
NM_017617.5(NOTCH1):c.3643+13G>C rs759356560 0.00001
NM_017617.5(NOTCH1):c.3643+14C>T rs776243821 0.00001
NM_017617.5(NOTCH1):c.3643+9C>T rs764985096 0.00001
NM_017617.5(NOTCH1):c.3644-7C>G rs1243301340 0.00001
NM_017617.5(NOTCH1):c.3663C>T (p.Asn1221=) rs780527525 0.00001
NM_017617.5(NOTCH1):c.3669C>T (p.Asp1223=) rs781546439 0.00001
NM_017617.5(NOTCH1):c.3684C>T (p.Pro1228=) rs753711100 0.00001
NM_017617.5(NOTCH1):c.3693C>T (p.Pro1231=) rs1330174392 0.00001
NM_017617.5(NOTCH1):c.3723C>T (p.Asn1241=) rs369637862 0.00001
NM_017617.5(NOTCH1):c.3862G>A (p.Val1288Ile) rs752264096 0.00001
NM_017617.5(NOTCH1):c.3874C>T (p.His1292Tyr) rs372348365 0.00001
NM_017617.5(NOTCH1):c.3908G>A (p.Arg1303His) rs768775024 0.00001
NM_017617.5(NOTCH1):c.3960C>T (p.Gly1320=) rs1843089049 0.00001
NM_017617.5(NOTCH1):c.3991G>A (p.Gly1331Arg) rs769908800 0.00001
NM_017617.5(NOTCH1):c.4014+8C>G rs748956877 0.00001
NM_017617.5(NOTCH1):c.4066C>T (p.Arg1356Cys) rs587778567 0.00001
NM_017617.5(NOTCH1):c.4074C>T (p.Leu1358=) rs762830852 0.00001
NM_017617.5(NOTCH1):c.4080C>T (p.Gly1360=) rs745455844 0.00001
NM_017617.5(NOTCH1):c.4086A>G (p.Thr1362=) rs1394594896 0.00001
NM_017617.5(NOTCH1):c.408A>G (p.Lys136=) rs769259782 0.00001
NM_017617.5(NOTCH1):c.4100C>T (p.Pro1367Leu) rs758787267 0.00001
NM_017617.5(NOTCH1):c.4128C>T (p.Gly1376=) rs1292953898 0.00001
NM_017617.5(NOTCH1):c.4136C>T (p.Thr1379Met) rs764123906 0.00001
NM_017617.5(NOTCH1):c.4158G>A (p.Pro1386=) rs760205847 0.00001
NM_017617.5(NOTCH1):c.4197C>T (p.Asn1399=) rs989398598 0.00001
NM_017617.5(NOTCH1):c.4263C>T (p.Asn1421=) rs547687521 0.00001
NM_017617.5(NOTCH1):c.4271T>C (p.Leu1424Ser) rs954507677 0.00001
NM_017617.5(NOTCH1):c.4272G>A (p.Leu1424=) rs1352111936 0.00001
NM_017617.5(NOTCH1):c.429G>A (p.Pro143=) rs757406877 0.00001
NM_017617.5(NOTCH1):c.4336G>A (p.Glu1446Lys) rs1198437870 0.00001
NM_017617.5(NOTCH1):c.4357G>A (p.Glu1453Lys) rs746144524 0.00001
NM_017617.5(NOTCH1):c.4374G>A (p.Ala1458=) rs777768691 0.00001
NM_017617.5(NOTCH1):c.4410C>T (p.His1470=) rs750183248 0.00001
NM_017617.5(NOTCH1):c.4413G>A (p.Ala1471=) rs756867304 0.00001
NM_017617.5(NOTCH1):c.4425C>T (p.Asp1475=) rs371948072 0.00001
NM_017617.5(NOTCH1):c.4428C>T (p.Gly1476=) rs765751888 0.00001
NM_017617.5(NOTCH1):c.447C>T (p.Cys149=) rs1042034779 0.00001
NM_017617.5(NOTCH1):c.453C>T (p.Asn151=) rs368733465 0.00001
NM_017617.5(NOTCH1):c.4564C>G (p.Gln1522Glu) rs537085062 0.00001
NM_017617.5(NOTCH1):c.4587-9C>T rs1390687627 0.00001
NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val) rs748862853 0.00001
NM_017617.5(NOTCH1):c.4662C>T (p.Cys1554=) rs756662728 0.00001
NM_017617.5(NOTCH1):c.4663G>A (p.Glu1555Lys) rs746342893 0.00001
NM_017617.5(NOTCH1):c.4675C>T (p.Leu1559=) rs370713185 0.00001
NM_017617.5(NOTCH1):c.4709C>T (p.Ala1570Val) rs199860726 0.00001
NM_017617.5(NOTCH1):c.4710G>A (p.Ala1570=) rs773978978 0.00001
NM_017617.5(NOTCH1):c.4719G>A (p.Thr1573=) rs775105774 0.00001
NM_017617.5(NOTCH1):c.4743G>A (p.Pro1581=) rs781672648 0.00001
NM_017617.5(NOTCH1):c.4776C>T (p.Phe1592=) rs752861485 0.00001
NM_017617.5(NOTCH1):c.4810G>A (p.Val1604Met) rs763765573 0.00001
NM_017617.5(NOTCH1):c.4830A>G (p.Ala1610=) rs1322054624 0.00001
NM_017617.5(NOTCH1):c.4867G>A (p.Glu1623Lys) rs187112709 0.00001
NM_017617.5(NOTCH1):c.4880G>A (p.Arg1627His) rs946083212 0.00001
NM_017617.5(NOTCH1):c.4911C>T (p.Gly1637=) rs953232466 0.00001
NM_017617.5(NOTCH1):c.4919C>T (p.Ala1640Val) rs1183355532 0.00001
NM_017617.5(NOTCH1):c.4959C>G (p.Leu1653=) rs773609261 0.00001
NM_017617.5(NOTCH1):c.5019-7C>T rs778742802 0.00001
NM_017617.5(NOTCH1):c.5049G>A (p.Arg1683=) rs749951491 0.00001
NM_017617.5(NOTCH1):c.5092G>A (p.Asp1698Asn) rs1417478070 0.00001
NM_017617.5(NOTCH1):c.5160C>T (p.Ala1720=) rs780625273 0.00001
NM_017617.5(NOTCH1):c.5168-15C>T rs1422578873 0.00001
NM_017617.5(NOTCH1):c.5168-5C>T rs757370134 0.00001
NM_017617.5(NOTCH1):c.5184G>A (p.Pro1728=) rs760548371 0.00001
NM_017617.5(NOTCH1):c.5187C>T (p.Pro1729=) rs1391812990 0.00001
NM_017617.5(NOTCH1):c.5247C>T (p.Phe1749=) rs762483384 0.00001
NM_017617.5(NOTCH1):c.5271C>T (p.Ser1757=) rs747336695 0.00001
NM_017617.5(NOTCH1):c.5282G>A (p.Arg1761Gln) rs750318685 0.00001
NM_017617.5(NOTCH1):c.5365G>A (p.Glu1789Lys) rs1198855127 0.00001
NM_017617.5(NOTCH1):c.5374G>A (p.Val1792Met) rs771399165 0.00001
NM_017617.5(NOTCH1):c.5384+11G>A rs1340470620 0.00001
NM_017617.5(NOTCH1):c.5385-13C>T rs1045447812 0.00001
NM_017617.5(NOTCH1):c.5397C>T (p.Asn1799=) rs761147379 0.00001
NM_017617.5(NOTCH1):c.5406C>T (p.Asp1802=) rs768810954 0.00001
NM_017617.5(NOTCH1):c.5413C>T (p.Leu1805Phe) rs775497405 0.00001
NM_017617.5(NOTCH1):c.541G>A (p.Glu181Lys) rs780209394 0.00001
NM_017617.5(NOTCH1):c.5460C>T (p.Thr1820=) rs1176961989 0.00001
NM_017617.5(NOTCH1):c.5472+10G>A rs1484527670 0.00001
NM_017617.5(NOTCH1):c.5472+13G>C rs774075034 0.00001
NM_017617.5(NOTCH1):c.5472+18C>T rs199812169 0.00001
NM_017617.5(NOTCH1):c.5472+8G>A rs776640246 0.00001
NM_017617.5(NOTCH1):c.5473-10C>T rs1226558286 0.00001
NM_017617.5(NOTCH1):c.5473-8C>G rs1353579181 0.00001
NM_017617.5(NOTCH1):c.5484C>T (p.Pro1828=) rs1381340038 0.00001
NM_017617.5(NOTCH1):c.5495C>G (p.Pro1832Arg) rs1425070721 0.00001
NM_017617.5(NOTCH1):c.5505C>T (p.Asp1835=) rs760776152 0.00001
NM_017617.5(NOTCH1):c.5560C>T (p.Arg1854Cys) rs376689092 0.00001
NM_017617.5(NOTCH1):c.5595T>A (p.Gly1865=) rs767493892 0.00001
NM_017617.5(NOTCH1):c.5608G>A (p.Asp1870Asn) rs1313068805 0.00001
NM_017617.5(NOTCH1):c.5619C>T (p.Asp1873=) rs770755811 0.00001
NM_017617.5(NOTCH1):c.5652G>A (p.Pro1884=) rs766279504 0.00001
NM_017617.5(NOTCH1):c.5790C>T (p.Thr1930=) rs772372556 0.00001
NM_017617.5(NOTCH1):c.5793C>A (p.Ala1931=) rs569844183 0.00001
NM_017617.5(NOTCH1):c.5805C>T (p.Ala1935=) rs774693459 0.00001
NM_017617.5(NOTCH1):c.5945G>A (p.Arg1982Gln) rs763052700 0.00001
NM_017617.5(NOTCH1):c.5971C>T (p.Arg1991Cys) rs759553984 0.00001
NM_017617.5(NOTCH1):c.5981A>G (p.Asp1994Gly) rs1454512890 0.00001
NM_017617.5(NOTCH1):c.5991G>A (p.Thr1997=) rs577642121 0.00001
NM_017617.5(NOTCH1):c.6013C>T (p.Leu2005=) rs557773323 0.00001
NM_017617.5(NOTCH1):c.6058G>A (p.Asp2020Asn) rs752928106 0.00001
NM_017617.5(NOTCH1):c.6084C>G (p.Gly2028=) rs1060504524 0.00001
NM_017617.5(NOTCH1):c.6091G>A (p.Ala2031Thr) rs932710972 0.00001
NM_017617.5(NOTCH1):c.61+11A>G rs1400816809 0.00001
NM_017617.5(NOTCH1):c.6111C>T (p.Ala2037=) rs749488166 0.00001
NM_017617.5(NOTCH1):c.612C>T (p.Cys204=) rs1208829487 0.00001
NM_017617.5(NOTCH1):c.6131C>T (p.Ala2044Val) rs1085307562 0.00001
NM_017617.5(NOTCH1):c.6156T>A (p.Ala2052=) rs768912472 0.00001
NM_017617.5(NOTCH1):c.62-9C>T rs368106834 0.00001
NM_017617.5(NOTCH1):c.6204C>T (p.Ala2068=) rs767118276 0.00001
NM_017617.5(NOTCH1):c.6213G>A (p.Glu2071=) rs761295801 0.00001
NM_017617.5(NOTCH1):c.6223G>A (p.Glu2075Lys) rs549258808 0.00001
NM_017617.5(NOTCH1):c.6227C>T (p.Thr2076Ile) rs1022510242 0.00001
NM_017617.5(NOTCH1):c.6237G>A (p.Val2079=) rs1246059704 0.00001
NM_017617.5(NOTCH1):c.6259C>T (p.Arg2087Trp) rs373806373 0.00001
NM_017617.5(NOTCH1):c.6350A>C (p.Asn2117Thr) rs765820020 0.00001
NM_017617.5(NOTCH1):c.6401C>T (p.Thr2134Ile) rs1249825304 0.00001
NM_017617.5(NOTCH1):c.6408G>A (p.Ser2136=) rs933773128 0.00001
NM_017617.5(NOTCH1):c.6413C>T (p.Pro2138Leu) rs756571156 0.00001
NM_017617.5(NOTCH1):c.6414G>A (p.Pro2138=) rs750732295 0.00001
NM_017617.5(NOTCH1):c.6422C>T (p.Ser2141Leu) rs767822693 0.00001
NM_017617.5(NOTCH1):c.6453C>T (p.Pro2151=) rs377302245 0.00001
NM_017617.5(NOTCH1):c.6475C>T (p.Arg2159Cys) rs371742334 0.00001
NM_017617.5(NOTCH1):c.6536G>C (p.Arg2179Pro) rs587778571 0.00001
NM_017617.5(NOTCH1):c.6542A>G (p.Lys2181Arg) rs746372139 0.00001
NM_017617.5(NOTCH1):c.6564C>A (p.Gly2188=) rs747353119 0.00001
NM_017617.5(NOTCH1):c.6582C>T (p.Ser2194=) rs200853719 0.00001
NM_017617.5(NOTCH1):c.6645G>A (p.Ser2215=) rs745339419 0.00001
NM_017617.5(NOTCH1):c.6756G>A (p.Lys2252=) rs1842926814 0.00001
NM_017617.5(NOTCH1):c.6759C>T (p.Pro2253=) rs770738954 0.00001
NM_017617.5(NOTCH1):c.675G>A (p.Ser225=) rs1334701310 0.00001
NM_017617.5(NOTCH1):c.6768G>A (p.Ala2256=) rs575575412 0.00001
NM_017617.5(NOTCH1):c.6769G>A (p.Ala2257Thr) rs587778572 0.00001
NM_017617.5(NOTCH1):c.6781G>T (p.Gly2261Cys) rs768817065 0.00001
NM_017617.5(NOTCH1):c.6787C>T (p.Arg2263Trp) rs770022692 0.00001
NM_017617.5(NOTCH1):c.6789G>C (p.Arg2263=) rs1367699274 0.00001
NM_017617.5(NOTCH1):c.678C>G (p.Pro226=) rs950648628 0.00001
NM_017617.5(NOTCH1):c.687C>T (p.Asn229=) rs535217359 0.00001
NM_017617.5(NOTCH1):c.6889A>G (p.Thr2297Ala) rs748988550 0.00001
NM_017617.5(NOTCH1):c.688G>A (p.Gly230Arg) rs1027492078 0.00001
NM_017617.5(NOTCH1):c.6895G>A (p.Gly2299Ser) rs1020747496 0.00001
NM_017617.5(NOTCH1):c.6915T>C (p.Asn2305=) rs1223420495 0.00001
NM_017617.5(NOTCH1):c.6969C>T (p.Tyr2323=) rs755844275 0.00001
NM_017617.5(NOTCH1):c.6976C>T (p.Leu2326=) rs756811995 0.00001
NM_017617.5(NOTCH1):c.7047G>A (p.Pro2349=) rs775336930 0.00001
NM_017617.5(NOTCH1):c.7075C>T (p.Leu2359=) rs374362224 0.00001
NM_017617.5(NOTCH1):c.7104G>A (p.Leu2368=) rs779525805 0.00001
NM_017617.5(NOTCH1):c.7114C>T (p.Arg2372Trp) rs754234580 0.00001
NM_017617.5(NOTCH1):c.7128G>T (p.Gln2376His) rs369935287 0.00001
NM_017617.5(NOTCH1):c.7134C>T (p.His2378=) rs775424890 0.00001
NM_017617.5(NOTCH1):c.714C>T (p.Asp238=) rs532058137 0.00001
NM_017617.5(NOTCH1):c.7150C>G (p.Gln2384Glu) rs375119074 0.00001
NM_017617.5(NOTCH1):c.7161A>T (p.Pro2387=) rs1413339098 0.00001
NM_017617.5(NOTCH1):c.7189C>T (p.Leu2397=) rs374789141 0.00001
NM_017617.5(NOTCH1):c.7315A>C (p.Ser2439Arg) rs942055234 0.00001
NM_017617.5(NOTCH1):c.743-17G>A rs759467563 0.00001
NM_017617.5(NOTCH1):c.743-6C>T rs200395304 0.00001
NM_017617.5(NOTCH1):c.751G>A (p.Gly251Ser) rs755667439 0.00001
NM_017617.5(NOTCH1):c.752G>A (p.Gly251Asp) rs749943647 0.00001
NM_017617.5(NOTCH1):c.7539C>T (p.Ser2513=) rs758931699 0.00001
NM_017617.5(NOTCH1):c.7554C>T (p.Asp2518=) rs771410115 0.00001
NM_017617.5(NOTCH1):c.7584C>T (p.Asn2528=) rs778937268 0.00001
NM_017617.5(NOTCH1):c.7590C>T (p.Ser2530=) rs371067732 0.00001
NM_017617.5(NOTCH1):c.7667A>G (p.Ter2556=) rs190691338 0.00001
NM_017617.5(NOTCH1):c.822C>T (p.Asp274=) rs775275739 0.00001
NM_017617.5(NOTCH1):c.865+19G>A rs775120395 0.00001
NM_017617.5(NOTCH1):c.866-7C>T rs368001435 0.00001
NM_017617.5(NOTCH1):c.949G>A (p.Gly317Ser) rs749696049 0.00001
NM_017617.5(NOTCH1):c.94C>T (p.Leu32=) rs367858719 0.00001
NM_020436.5(SALL4):c.130+6dup rs750625183 0.00001
NM_020436.5(SALL4):c.1567G>C (p.Gly523Arg) rs113920122 0.00001
NM_020436.5(SALL4):c.1752T>C (p.His584=) rs1344565346 0.00001
NM_020436.5(SALL4):c.262C>T (p.Leu88=) rs755362179 0.00001
NM_020436.5(SALL4):c.609C>A (p.Ala203=) rs200416079 0.00001
NM_020436.5(SALL4):c.732C>T (p.Ser244=) rs567647391 0.00001
NM_020754.4(ARHGAP31):c.*1533T>C rs567101775 0.00001
NM_020779.4(WDR35):c.1009-18T>A rs113816809 0.00001
NM_020779.4(WDR35):c.135G>A (p.Thr45=) rs773319707 0.00001
NM_020779.4(WDR35):c.1374A>G (p.Thr458=) rs778066578 0.00001
NM_020779.4(WDR35):c.1446G>A (p.Val482=) rs569920075 0.00001
NM_020779.4(WDR35):c.1662A>T (p.Gly554=) rs767878828 0.00001
NM_020779.4(WDR35):c.2157T>C (p.Phe719=) rs755951192 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.24+9C>T rs754703472 0.00001
NM_020779.4(WDR35):c.2691T>C (p.His897=) rs1192258496 0.00001
NM_020779.4(WDR35):c.2739A>G (p.Leu913=) rs774699751 0.00001
NM_020779.4(WDR35):c.3195C>T (p.Cys1065=) rs375805945 0.00001
NM_020779.4(WDR35):c.3207C>T (p.Ala1069=) rs748710979 0.00001
NM_020779.4(WDR35):c.3363-9G>A rs375053867 0.00001
NM_020779.4(WDR35):c.378C>T (p.Asp126=) rs770081985 0.00001
NM_020779.4(WDR35):c.666T>A (p.Pro222=) rs987346249 0.00001
NM_020779.4(WDR35):c.761T>C (p.Met254Thr) rs547986777 0.00001
NM_022039.4(FBXW4):c.1437C>T (p.Ser479=) rs574963392 0.00001
NM_022458.4(LMBR1):c.1083C>T (p.Ser361=) rs757854346 0.00001
NM_023110.3(FGFR1):c.1179G>A (p.Ser393=) rs374674165 0.00001
NM_023110.3(FGFR1):c.1185C>T (p.Ile395=) rs756104594 0.00001
NM_023110.3(FGFR1):c.1308C>T (p.Ser436=) rs546318124 0.00001
NM_023110.3(FGFR1):c.1430+13T>C rs763815221 0.00001
NM_023110.3(FGFR1):c.1430+9A>G rs371390925 0.00001
NM_023110.3(FGFR1):c.1449C>T (p.Pro483=) rs755702592 0.00001
NM_023110.3(FGFR1):c.1476G>A (p.Val492=) rs1817294749 0.00001
NM_023110.3(FGFR1):c.1492A>G (p.Ile498Val) rs767419329 0.00001
NM_023110.3(FGFR1):c.1869C>T (p.Asp623=) rs780009859 0.00001
NM_023110.3(FGFR1):c.1977+18C>T rs201805975 0.00001
NM_023110.3(FGFR1):c.1977+9C>T rs372632166 0.00001
NM_023110.3(FGFR1):c.1978-13G>A rs761708658 0.00001
NM_023110.3(FGFR1):c.1978-16C>T rs764971696 0.00001
NM_023110.3(FGFR1):c.2048+18A>G rs1340003441 0.00001
NM_023110.3(FGFR1):c.2058C>T (p.Phe686=) rs1193961883 0.00001
NM_023110.3(FGFR1):c.2181C>T (p.Asn727=) rs767613285 0.00001
NM_023110.3(FGFR1):c.2186+18T>G rs764343061 0.00001
NM_023110.3(FGFR1):c.2271C>T (p.Ile757=) rs369782405 0.00001
NM_023110.3(FGFR1):c.2451C>T (p.Gly817=) rs1014179319 0.00001
NM_023110.3(FGFR1):c.279C>T (p.Pro93=) rs781034707 0.00001
NM_023110.3(FGFR1):c.346G>A (p.Val116Ile) rs747842199 0.00001
NM_023110.3(FGFR1):c.359-9T>C rs770811938 0.00001
NM_023110.3(FGFR1):c.386A>C (p.Asp129Ala) rs765615419 0.00001
NM_023110.3(FGFR1):c.39G>A (p.Leu13=) rs760206071 0.00001
NM_023110.3(FGFR1):c.405T>C (p.Ser135=) rs374139613 0.00001
NM_023110.3(FGFR1):c.450C>T (p.Pro150=) rs766091702 0.00001
NM_023110.3(FGFR1):c.615C>T (p.Gly205=) rs781689191 0.00001
NM_023110.3(FGFR1):c.648A>C (p.Ile216=) rs756132460 0.00001
NM_023110.3(FGFR1):c.663G>T (p.Val221=) rs766451294 0.00001
NM_023110.3(FGFR1):c.708C>T (p.Tyr236=) rs373644620 0.00001
NM_023110.3(FGFR1):c.786C>T (p.Pro262=) rs769599671 0.00001
NM_023110.3(FGFR1):c.787G>A (p.Ala263Thr) rs747978107 0.00001
NM_023110.3(FGFR1):c.891G>A (p.Gly297=) rs774652525 0.00001
NM_023110.3(FGFR1):c.937-10T>C rs757823303 0.00001
NM_025132.4(WDR19):c.1350A>G (p.Leu450=) rs770470368 0.00001
NM_025132.4(WDR19):c.2646-5T>C rs771971475 0.00001
NM_025132.4(WDR19):c.2876+10T>C rs773692164 0.00001
NM_025132.4(WDR19):c.2877-12A>G rs754511582 0.00001
NM_025132.4(WDR19):c.42C>T (p.Gly14=) rs531575276 0.00001
NM_052989.3(IFT122):c.1147+10A>T rs750848733 0.00001
NM_052989.3(IFT122):c.1170T>G (p.Leu390=) rs1292603855 0.00001
NM_052989.3(IFT122):c.1467A>G (p.Leu489=) rs373424989 0.00001
NM_052989.3(IFT122):c.1590C>T (p.Ala530=) rs755545448 0.00001
NM_052989.3(IFT122):c.2223T>C (p.Ser741=) rs764418590 0.00001
NM_052989.3(IFT122):c.2298C>T (p.Ala766=) rs1007388408 0.00001
NM_052989.3(IFT122):c.2403C>T (p.Asp801=) rs779236068 0.00001
NM_052989.3(IFT122):c.273-211dup rs1559868678 0.00001
NM_052989.3(IFT122):c.2730G>A (p.Arg910=) rs765560540 0.00001
NM_052989.3(IFT122):c.2941C>T (p.Leu981=) rs1578129875 0.00001
NM_052989.3(IFT122):c.3114T>G (p.Gly1038=) rs769225639 0.00001
NM_052989.3(IFT122):c.3327C>A (p.Ser1109=) rs1464353928 0.00001
NM_052989.3(IFT122):c.3636+9C>T rs765137728 0.00001
NM_052989.3(IFT122):c.416+17C>T rs773053690 0.00001
NM_052989.3(IFT122):c.444G>A (p.Ala148=) rs772967589 0.00001
NM_052989.3(IFT122):c.645T>C (p.Pro215=) rs146397021 0.00001
NM_147127.5(EVC2):c.1006-7C>T rs760800233 0.00001
NM_147127.5(EVC2):c.1035C>G (p.Pro345=) rs1719022666 0.00001
NM_147127.5(EVC2):c.1056T>C (p.Asp352=) rs900466909 0.00001
NM_147127.5(EVC2):c.1062G>A (p.Val354=) rs756157217 0.00001
NM_147127.5(EVC2):c.1107T>C (p.Ser369=) rs776250707 0.00001
NM_147127.5(EVC2):c.1134A>G (p.Gln378=) rs756310412 0.00001
NM_147127.5(EVC2):c.1146-9G>T rs774847750 0.00001
NM_147127.5(EVC2):c.1245C>G (p.Thr415=) rs747208576 0.00001
NM_147127.5(EVC2):c.1380G>C (p.Leu460=) rs1438407396 0.00001
NM_147127.5(EVC2):c.1392G>A (p.Lys464=) rs1362654881 0.00001
NM_147127.5(EVC2):c.1440A>G (p.Ala480=) rs779955202 0.00001
NM_147127.5(EVC2):c.1455A>G (p.Lys485=) rs1371814417 0.00001
NM_147127.5(EVC2):c.1476T>C (p.Ala492=) rs141479252 0.00001
NM_147127.5(EVC2):c.1485C>T (p.Cys495=) rs911180448 0.00001
NM_147127.5(EVC2):c.1542C>T (p.Leu514=) rs376252506 0.00001
NM_147127.5(EVC2):c.1545T>A (p.Ala515=) rs1716570565 0.00001
NM_147127.5(EVC2):c.1584G>A (p.Gln528=) rs1273439269 0.00001
NM_147127.5(EVC2):c.1620C>T (p.Ile540=) rs768068789 0.00001
NM_147127.5(EVC2):c.1650C>T (p.Phe550=) rs765432520 0.00001
NM_147127.5(EVC2):c.1710+10C>T rs779023251 0.00001
NM_147127.5(EVC2):c.171G>T (p.Gly57=) rs1722350740 0.00001
NM_147127.5(EVC2):c.174C>G (p.Pro58=) rs1317163956 0.00001
NM_147127.5(EVC2):c.180G>C (p.Leu60=) rs746557117 0.00001
NM_147127.5(EVC2):c.1827G>A (p.Val609=) rs758243772 0.00001
NM_147127.5(EVC2):c.1881C>T (p.His627=) rs1181526421 0.00001
NM_147127.5(EVC2):c.1897C>T (p.Leu633=) rs755775994 0.00001
NM_147127.5(EVC2):c.1899G>C (p.Leu633=) rs750061407 0.00001
NM_147127.5(EVC2):c.1908C>T (p.Asp636=) rs753259274 0.00001
NM_147127.5(EVC2):c.1923A>G (p.Leu641=) rs1193715900 0.00001
NM_147127.5(EVC2):c.1947C>G (p.Val649=) rs748436461 0.00001
NM_147127.5(EVC2):c.195G>A (p.Gly65=) rs1351285832 0.00001
NM_147127.5(EVC2):c.1974T>C (p.Asn658=) rs146401544 0.00001
NM_147127.5(EVC2):c.1998G>A (p.Lys666=) rs201835379 0.00001
NM_147127.5(EVC2):c.2026A>C (p.Arg676=) rs922218808 0.00001
NM_147127.5(EVC2):c.2043A>G (p.Gln681=) rs774467445 0.00001
NM_147127.5(EVC2):c.2088C>G (p.Ala696=) rs1460893645 0.00001
NM_147127.5(EVC2):c.2109C>T (p.Ala703=) rs1290218024 0.00001
NM_147127.5(EVC2):c.2169G>A (p.Glu723=) rs1300347009 0.00001
NM_147127.5(EVC2):c.216G>A (p.Glu72=) rs1478999602 0.00001
NM_147127.5(EVC2):c.2172G>T (p.Leu724=) rs546009991 0.00001
NM_147127.5(EVC2):c.2193C>T (p.Ala731=) rs143262952 0.00001
NM_147127.5(EVC2):c.219C>T (p.Ser73=) rs1423567913 0.00001
NM_147127.5(EVC2):c.2226G>A (p.Ser742=) rs1225003407 0.00001
NM_147127.5(EVC2):c.2265G>A (p.Gln755=) rs962222538 0.00001
NM_147127.5(EVC2):c.2274C>T (p.Ala758=) rs1195932614 0.00001
NM_147127.5(EVC2):c.228+10G>T rs1478451043 0.00001
NM_147127.5(EVC2):c.229-7T>G rs763121941 0.00001
NM_147127.5(EVC2):c.2292C>G (p.Leu764=) rs200598574 0.00001
NM_147127.5(EVC2):c.2364C>T (p.Ala788=) rs575617564 0.00001
NM_147127.5(EVC2):c.2376G>A (p.Glu792=) rs752095410 0.00001
NM_147127.5(EVC2):c.2379G>A (p.Gly793=) rs984357172 0.00001
NM_147127.5(EVC2):c.2391C>T (p.Asp797=) rs920334676 0.00001
NM_147127.5(EVC2):c.2607C>G (p.Pro869=) rs752513992 0.00001
NM_147127.5(EVC2):c.2649G>A (p.Ala883=) rs751714104 0.00001
NM_147127.5(EVC2):c.2685C>T (p.Ala895=) rs771623926 0.00001
NM_147127.5(EVC2):c.283+18T>G rs894951363 0.00001
NM_147127.5(EVC2):c.2832T>C (p.Val944=) rs1380334833 0.00001
NM_147127.5(EVC2):c.284-10T>C rs1192584069 0.00001
NM_147127.5(EVC2):c.2925G>A (p.Ala975=) rs760612784 0.00001
NM_147127.5(EVC2):c.2937C>T (p.Thr979=) rs750126669 0.00001
NM_147127.5(EVC2):c.2995C>T (p.Leu999=) rs745415485 0.00001
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys) rs555666020 0.00001
NM_147127.5(EVC2):c.3039C>T (p.Ile1013=) rs751382770 0.00001
NM_147127.5(EVC2):c.3042G>A (p.Leu1014=) rs775309745 0.00001
NM_147127.5(EVC2):c.3057+13G>T rs770915834 0.00001
NM_147127.5(EVC2):c.3060G>A (p.Glu1020=) rs1284265777 0.00001
NM_147127.5(EVC2):c.3129C>T (p.Ala1043=) rs987312090 0.00001
NM_147127.5(EVC2):c.3159T>C (p.Asp1053=) rs777020546 0.00001
NM_147127.5(EVC2):c.3162G>T (p.Gly1054=) rs777724107 0.00001
NM_147127.5(EVC2):c.3219C>T (p.Val1073=) rs776929675 0.00001
NM_147127.5(EVC2):c.3264T>C (p.His1088=) rs756868538 0.00001
NM_147127.5(EVC2):c.3270G>A (p.Gln1090=) rs754317285 0.00001
NM_147127.5(EVC2):c.3273-7A>T rs1382818953 0.00001
NM_147127.5(EVC2):c.3273-8C>T rs756556239 0.00001
NM_147127.5(EVC2):c.327C>G (p.Val109=) rs1721335332 0.00001
NM_147127.5(EVC2):c.3336C>T (p.Asp1112=) rs746688755 0.00001
NM_147127.5(EVC2):c.3348C>T (p.Thr1116=) rs1451776773 0.00001
NM_147127.5(EVC2):c.3361-4G>T rs1378260553 0.00001
NM_147127.5(EVC2):c.3361-5T>C rs374025466 0.00001
NM_147127.5(EVC2):c.3361-7C>G rs772860972 0.00001
NM_147127.5(EVC2):c.3364C>T (p.Leu1122=) rs1461295651 0.00001
NM_147127.5(EVC2):c.3372G>A (p.Leu1124=) rs778492108 0.00001
NM_147127.5(EVC2):c.3378G>A (p.Ser1126=) rs757807439 0.00001
NM_147127.5(EVC2):c.33G>A (p.Thr11=) rs1202476781 0.00001
NM_147127.5(EVC2):c.3414G>A (p.Thr1138=) rs768312867 0.00001
NM_147127.5(EVC2):c.3426C>T (p.Leu1142=) rs1321179195 0.00001
NM_147127.5(EVC2):c.3447A>C (p.Thr1149=) rs1291370512 0.00001
NM_147127.5(EVC2):c.3531G>A (p.Ala1177=) rs770872108 0.00001
NM_147127.5(EVC2):c.3540C>T (p.Ala1180=) rs373829825 0.00001
NM_147127.5(EVC2):c.3543C>T (p.Asp1181=) rs762696562 0.00001
NM_147127.5(EVC2):c.3557+7G>C rs748684933 0.00001
NM_147127.5(EVC2):c.3557+9C>T rs928653922 0.00001
NM_147127.5(EVC2):c.3609G>C (p.Leu1203=) rs754595798 0.00001
NM_147127.5(EVC2):c.3627A>G (p.Glu1209=) rs374425966 0.00001
NM_147127.5(EVC2):c.3651A>G (p.Arg1217=) rs962774281 0.00001
NM_147127.5(EVC2):c.3654G>A (p.Lys1218=) rs770129558 0.00001
NM_147127.5(EVC2):c.3726A>C (p.Pro1242=) rs767740349 0.00001
NM_147127.5(EVC2):c.372T>C (p.Ala124=) rs753895375 0.00001
NM_147127.5(EVC2):c.3750C>T (p.Gly1250=) rs775355661 0.00001
NM_147127.5(EVC2):c.3759C>T (p.Ala1253=) rs1032044767 0.00001
NM_147127.5(EVC2):c.3771T>C (p.Ile1257=) rs777144379 0.00001
NM_147127.5(EVC2):c.3849C>T (p.Ile1283=) rs371771308 0.00001
NM_147127.5(EVC2):c.3867C>T (p.Pro1289=) rs953355815 0.00001
NM_147127.5(EVC2):c.3924C>T (p.Asp1308=) rs1277969148 0.00001
NM_147127.5(EVC2):c.408G>A (p.Lys136=) rs763680760 0.00001
NM_147127.5(EVC2):c.40C>T (p.Leu14=) rs1722366826 0.00001
NM_147127.5(EVC2):c.411G>A (p.Lys137=) rs762375976 0.00001
NM_147127.5(EVC2):c.429G>A (p.Glu143=) rs754435299 0.00001
NM_147127.5(EVC2):c.451-7del rs1290670058 0.00001
NM_147127.5(EVC2):c.45C>T (p.Ala15=) rs1285560156 0.00001
NM_147127.5(EVC2):c.498A>G (p.Val166=) rs369509893 0.00001
NM_147127.5(EVC2):c.520-7G>T rs1177228956 0.00001
NM_147127.5(EVC2):c.534T>C (p.Ser178=) rs1720948331 0.00001
NM_147127.5(EVC2):c.591A>G (p.Ser197=) rs1720942772 0.00001
NM_147127.5(EVC2):c.612C>T (p.Leu204=) rs1317049169 0.00001
NM_147127.5(EVC2):c.630T>A (p.Ala210=) rs1386228779 0.00001
NM_147127.5(EVC2):c.636C>T (p.Leu212=) rs768639624 0.00001
NM_147127.5(EVC2):c.639C>T (p.Thr213=) rs1323570343 0.00001
NM_147127.5(EVC2):c.681G>A (p.Gln227=) rs997848448 0.00001
NM_147127.5(EVC2):c.706+13C>T rs371526145 0.00001
NM_147127.5(EVC2):c.707-5C>T rs781300676 0.00001
NM_147127.5(EVC2):c.707-8C>G rs746187089 0.00001
NM_147127.5(EVC2):c.741G>A (p.Thr247=) rs772821703 0.00001
NM_147127.5(EVC2):c.759C>T (p.Leu253=) rs746241303 0.00001
NM_147127.5(EVC2):c.78G>A (p.Gly26=) rs1472845952 0.00001
NM_147127.5(EVC2):c.798C>G (p.Thr266=) rs1217997624 0.00001
NM_147127.5(EVC2):c.855A>G (p.Ala285=) rs1277622681 0.00001
NM_147127.5(EVC2):c.870+9C>T rs749270873 0.00001
NM_147127.5(EVC2):c.871-5C>T rs745871266 0.00001
NM_147127.5(EVC2):c.900A>G (p.Ala300=) rs1049760300 0.00001
NM_147127.5(EVC2):c.918C>T (p.Phe306=) rs1382381005 0.00001
NM_147127.5(EVC2):c.921C>T (p.Leu307=) rs1243167455 0.00001
NM_147127.5(EVC2):c.9C>T (p.Pro3=) rs573858756 0.00001
NM_153717.3(EVC):c.100C>T (p.Leu34=) rs1577297567 0.00001
NM_153717.3(EVC):c.1089G>T (p.Leu363=) rs773566770 0.00001
NM_153717.3(EVC):c.1098+9G>A rs1729682283 0.00001
NM_153717.3(EVC):c.1101C>T (p.Asp367=) rs186537549 0.00001
NM_153717.3(EVC):c.1125G>A (p.Arg375=) rs372787652 0.00001
NM_153717.3(EVC):c.1149G>A (p.Glu383=) rs1577439692 0.00001
NM_153717.3(EVC):c.117C>T (p.Gly39=) rs1424931005 0.00001
NM_153717.3(EVC):c.1188G>A (p.Arg396=) rs367659093 0.00001
NM_153717.3(EVC):c.1236G>A (p.Lys412=) rs1730618149 0.00001
NM_153717.3(EVC):c.1315+7C>T rs1252318929 0.00001
NM_153717.3(EVC):c.1315+8G>A rs550411377 0.00001
NM_153717.3(EVC):c.1323C>T (p.Val441=) rs201393812 0.00001
NM_153717.3(EVC):c.1461C>T (p.Leu487=) rs1414243707 0.00001
NM_153717.3(EVC):c.1462G>A (p.Glu488Lys) rs146232611 0.00001
NM_153717.3(EVC):c.1479C>G (p.Val493=) rs751325286 0.00001
NM_153717.3(EVC):c.1560C>T (p.Cys520=) rs764798059 0.00001
NM_153717.3(EVC):c.1563+8G>C rs896046510 0.00001
NM_153717.3(EVC):c.1564-7G>A rs201739032 0.00001
NM_153717.3(EVC):c.1602C>T (p.Phe534=) rs766294209 0.00001
NM_153717.3(EVC):c.1647C>T (p.Leu549=) rs756674302 0.00001
NM_153717.3(EVC):c.1650C>T (p.Pro550=) rs1187336928 0.00001
NM_153717.3(EVC):c.1698C>T (p.Ala566=) rs911132556 0.00001
NM_153717.3(EVC):c.1764G>A (p.Glu588=) rs1736003433 0.00001
NM_153717.3(EVC):c.1777-8G>A rs760016211 0.00001
NM_153717.3(EVC):c.1794T>C (p.Cys598=) rs1162334289 0.00001
NM_153717.3(EVC):c.1806C>T (p.Ser602=) rs749141466 0.00001
NM_153717.3(EVC):c.1836C>T (p.His612=) rs1318231575 0.00001
NM_153717.3(EVC):c.1839G>A (p.Glu613=) rs1419257094 0.00001
NM_153717.3(EVC):c.1845C>A (p.Thr615=) rs1398493743 0.00001
NM_153717.3(EVC):c.1878C>T (p.Leu626=) rs375743004 0.00001
NM_153717.3(EVC):c.1886+10G>A rs1194224970 0.00001
NM_153717.3(EVC):c.1911G>T (p.Gly637=) rs746048526 0.00001
NM_153717.3(EVC):c.1924T>C (p.Leu642=) rs1458268098 0.00001
NM_153717.3(EVC):c.1989G>C (p.Arg663=) rs1289387183 0.00001
NM_153717.3(EVC):c.2007C>T (p.His669=) rs1309166734 0.00001
NM_153717.3(EVC):c.2040G>A (p.Leu680=) rs1490178041 0.00001
NM_153717.3(EVC):c.2058G>A (p.Gln686=) rs747533747 0.00001
NM_153717.3(EVC):c.2070G>A (p.Glu690=) rs1288478366 0.00001
NM_153717.3(EVC):c.2088C>T (p.Leu696=) rs761661473 0.00001
NM_153717.3(EVC):c.2098-5C>T rs747808287 0.00001
NM_153717.3(EVC):c.2103G>A (p.Ala701=) rs766383397 0.00001
NM_153717.3(EVC):c.216T>C (p.Asn72=) rs776973612 0.00001
NM_153717.3(EVC):c.2181C>T (p.Ala727=) rs759398050 0.00001
NM_153717.3(EVC):c.2184G>A (p.Glu728=) rs1387569961 0.00001
NM_153717.3(EVC):c.2226C>T (p.Cys742=) rs1174341100 0.00001
NM_153717.3(EVC):c.2250G>A (p.Val750=) rs1577624232 0.00001
NM_153717.3(EVC):c.2304+7A>G rs1714452682 0.00001
NM_153717.3(EVC):c.2313G>A (p.Leu771=) rs756905795 0.00001
NM_153717.3(EVC):c.234A>G (p.Glu78=) rs754706204 0.00001
NM_153717.3(EVC):c.2358C>G (p.Val786=) rs895641001 0.00001
NM_153717.3(EVC):c.2365C>T (p.Leu789=) rs1448746006 0.00001
NM_153717.3(EVC):c.2376G>A (p.Ala792=) rs1005244629 0.00001
NM_153717.3(EVC):c.2406G>A (p.Glu802=) rs747188003 0.00001
NM_153717.3(EVC):c.2430G>A (p.Gln810=) rs370999882 0.00001
NM_153717.3(EVC):c.2450-7G>T rs769527486 0.00001
NM_153717.3(EVC):c.2520G>A (p.Thr840=) rs187406722 0.00001
NM_153717.3(EVC):c.2562-5C>G rs747812027 0.00001
NM_153717.3(EVC):c.2624A>T (p.His875Leu) rs200403160 0.00001
NM_153717.3(EVC):c.2625C>T (p.His875=) rs764729655 0.00001
NM_153717.3(EVC):c.2782+13dup rs770549797 0.00001
NM_153717.3(EVC):c.2782+9C>T rs768005359 0.00001
NM_153717.3(EVC):c.2783-18T>G rs544186339 0.00001
NM_153717.3(EVC):c.2783-8C>T rs905232607 0.00001
NM_153717.3(EVC):c.2790C>T (p.Pro930=) rs747237758 0.00001
NM_153717.3(EVC):c.2949G>A (p.Lys983=) rs760920720 0.00001
NM_153717.3(EVC):c.300+10G>C rs765963247 0.00001
NM_153717.3(EVC):c.301-13C>T rs1478477072 0.00001
NM_153717.3(EVC):c.301-5C>T rs1162511331 0.00001
NM_153717.3(EVC):c.303A>G (p.Glu101=) rs1001609281 0.00001
NM_153717.3(EVC):c.30C>T (p.Ser10=) rs1250304907 0.00001
NM_153717.3(EVC):c.339C>T (p.Phe113=) rs750461424 0.00001
NM_153717.3(EVC):c.343C>T (p.Leu115=) rs755273705 0.00001
NM_153717.3(EVC):c.375G>A (p.Gln125=) rs951334006 0.00001
NM_153717.3(EVC):c.384+9C>T rs1726415422 0.00001
NM_153717.3(EVC):c.385-10G>A rs766423757 0.00001
NM_153717.3(EVC):c.385-5C>T rs897738878 0.00001
NM_153717.3(EVC):c.447A>G (p.Pro149=) rs143250379 0.00001
NM_153717.3(EVC):c.450C>T (p.His150=) rs760527698 0.00001
NM_153717.3(EVC):c.456G>A (p.Pro152=) rs776773987 0.00001
NM_153717.3(EVC):c.510C>T (p.Asp170=) rs757930422 0.00001
NM_153717.3(EVC):c.525A>G (p.Ser175=) rs369785566 0.00001
NM_153717.3(EVC):c.57C>T (p.Asp19=) rs1467149000 0.00001
NM_153717.3(EVC):c.582G>A (p.Arg194=) rs200101865 0.00001
NM_153717.3(EVC):c.617+10G>T rs1175798148 0.00001
NM_153717.3(EVC):c.624C>T (p.Asp208=) rs187457187 0.00001
NM_153717.3(EVC):c.79C>T (p.Leu27=) rs1723000600 0.00001
NM_153717.3(EVC):c.801+9T>C rs775191328 0.00001
NM_153717.3(EVC):c.858G>A (p.Ser286=) rs752988350 0.00001
NM_153717.3(EVC):c.876G>A (p.Glu292=) rs902304992 0.00001
NM_153717.3(EVC):c.882C>T (p.Ile294=) rs375414448 0.00001
NM_153717.3(EVC):c.885C>T (p.Thr295=) rs1481146042 0.00001
NM_153717.3(EVC):c.888G>T (p.Leu296=) rs998975965 0.00001
NM_153717.3(EVC):c.930A>C (p.Leu310=) rs776792609 0.00001
NM_153717.3(EVC):c.940-9A>C rs1241925243 0.00001
NM_153717.3(EVC):c.99G>A (p.Leu33=) rs1723007488 0.00001
NM_170707.4(LMNA):c.1155G>A (p.Glu385=) rs878855232 0.00001
NM_170707.4(LMNA):c.1157+19G>A rs757715731 0.00001
NM_170707.4(LMNA):c.12G>A (p.Pro4=) rs369823958 0.00001
NM_170707.4(LMNA):c.153G>T (p.Ser51=) rs751886390 0.00001
NM_170707.4(LMNA):c.1662G>A (p.Glu554=) rs201936898 0.00001
NM_170707.4(LMNA):c.1699-9C>T rs776616872 0.00001
NM_170707.4(LMNA):c.1731T>C (p.Ala577=) rs776066211 0.00001
NM_170707.4(LMNA):c.369G>A (p.Lys123=) rs367938270 0.00001
NM_170707.4(LMNA):c.540G>A (p.Lys180=) rs1437725392 0.00001
NM_170707.4(LMNA):c.96G>A (p.Lys32=) rs775429079 0.00001
NM_181486.4(TBX5):c.922C>T (p.Pro308Ser) rs760334883 0.00001
NM_203486.3(DLL3):c.138G>A (p.Pro46=) rs987371248 0.00001
NM_207037.2(TCF12):c.*3A>G rs1224019481 0.00001
NC_000010.10:g.(?_76736352)_(77198536_?)dup
NC_000010.10:g.(?_76737054)_(76790804_?)dup
NM_000141.5(FGFR2):c.*1498_*1502del rs566259479
NM_000141.5(FGFR2):c.*197del rs748777325
NM_000141.5(FGFR2):c.*641_*644del rs548465887
NM_000141.5(FGFR2):c.-298_-297dup rs41301549
NM_000141.5(FGFR2):c.1356T>A (p.Ser452=) rs2134060289
NM_000141.5(FGFR2):c.1746C>T (p.Pro582=) rs369850306
NM_000141.5(FGFR2):c.1987-20A>T rs772633227
NM_000141.5(FGFR2):c.2416G>A (p.Glu806Lys) rs764959117
NM_000141.5(FGFR2):c.390C>G (p.Ser130=) rs1029635273
NM_000141.5(FGFR2):c.943G>A (p.Ala315Thr)
NM_000142.5(FGFR3):c.775C>T (p.Leu259=) rs765971064
NM_000474.4(TWIST1):c.180C>T (p.Val60=) rs565371578
NM_000474.4(TWIST1):c.200G>C (p.Gly67Ala)
NM_000474.4(TWIST1):c.245GCG[6] (p.Gly86dup) rs754552080
NM_000474.4(TWIST1):c.260_274dup (p.Ala87_Gly91dup) rs760471055
NM_000474.4(TWIST1):c.264C>T (p.Gly88=)
NM_000474.4(TWIST1):c.309C>T (p.Tyr103=)
NM_000474.4(TWIST1):c.33G>T (p.Ser11=) rs1554442101
NM_000474.4(TWIST1):c.51G>C (p.Leu17=)
NM_000474.4(TWIST1):c.600G>C (p.Ala200=)
NM_000522.5(HOXA13):c.234T>A (p.Ala78=) rs1308135144
NM_000522.5(HOXA13):c.351_377del (p.Ala125_Ala133del) rs1195806602
NM_000522.5(HOXA13):c.354_374del (p.Ala127_Ala133del)
NM_000522.5(HOXA13):c.360_377del (p.Ala128_Ala133del) rs35861510
NM_000522.5(HOXA13):c.859G>A (p.Gly287Ser)
NM_000557.5(GDF5):c.1000C>G (p.Arg334Gly) rs140895068
NM_000557.5(GDF5):c.168C>A (p.Asn56Lys) rs199666386
NM_001039958.2(MESP2):c.1122C>A (p.Gly374=) rs765218369
NM_001039958.2(MESP2):c.237G>C (p.Ala79=) rs775834437
NM_001039958.2(MESP2):c.237G>T (p.Ala79=) rs775834437
NM_001039958.2(MESP2):c.498C>A (p.Pro166=) rs200336355
NM_001039958.2(MESP2):c.498C>G (p.Pro166=) rs200336355
NM_001039958.2(MESP2):c.517G>A (p.Ala173Thr) rs374604155
NM_001039958.2(MESP2):c.693C>T (p.Ala231=) rs901621478
NM_001039958.2(MESP2):c.957G>A (p.Ser319=) rs752665246
NM_001039958.2(MESP2):c.966T>G (p.Ala322=) rs768285654
NM_001040167.2(LFNG):c.1029C>G (p.Ala343=)
NM_001040167.2(LFNG):c.1029C>T (p.Ala343=)
NM_001040167.2(LFNG):c.102C>G (p.Pro34=)
NM_001040167.2(LFNG):c.1036G>A (p.Val346Met) rs71647813
NM_001040167.2(LFNG):c.1036G>C (p.Val346Leu) rs71647813
NM_001040167.2(LFNG):c.105C>T (p.Ala35=) rs1779738077
NM_001040167.2(LFNG):c.1062C>A (p.Ala354=)
NM_001040167.2(LFNG):c.1073+14G>A
NM_001040167.2(LFNG):c.1074-11T>C
NM_001040167.2(LFNG):c.1074-19C>T
NM_001040167.2(LFNG):c.1101C>T (p.Tyr367=)
NM_001040167.2(LFNG):c.123G>A (p.Ala41=)
NM_001040167.2(LFNG):c.126G>A (p.Leu42=)
NM_001040167.2(LFNG):c.183G>A (p.Ala61=)
NM_001040167.2(LFNG):c.204C>T (p.Val68=)
NM_001040167.2(LFNG):c.222G>C (p.Leu74=)
NM_001040167.2(LFNG):c.225C>A (p.Ser75=) rs1047044671
NM_001040167.2(LFNG):c.234C>T (p.Phe78=)
NM_001040167.2(LFNG):c.237C>T (p.Ser79=)
NM_001040167.2(LFNG):c.246C>T (p.Thr82=)
NM_001040167.2(LFNG):c.264G>A (p.Ala88=) rs1779745228
NM_001040167.2(LFNG):c.267C>T (p.Gly89=)
NM_001040167.2(LFNG):c.285C>G (p.Ala95=) rs1159608993
NM_001040167.2(LFNG):c.294C>T (p.Pro98=)
NM_001040167.2(LFNG):c.306C>T (p.His102=)
NM_001040167.2(LFNG):c.330C>G (p.Leu110=)
NM_001040167.2(LFNG):c.363C>T (p.Thr121=)
NM_001040167.2(LFNG):c.393C>T (p.Asp131=)
NM_001040167.2(LFNG):c.420C>G (p.Arg140=)
NM_001040167.2(LFNG):c.432+11C>G
NM_001040167.2(LFNG):c.432+12G>A rs2128375237
NM_001040167.2(LFNG):c.432+14G>A
NM_001040167.2(LFNG):c.432+16C>T
NM_001040167.2(LFNG):c.432+19G>T rs536716091
NM_001040167.2(LFNG):c.432+9C>T
NM_001040167.2(LFNG):c.433-12T>A
NM_001040167.2(LFNG):c.433-18C>T rs2128376861
NM_001040167.2(LFNG):c.481+16G>C
NM_001040167.2(LFNG):c.481+20C>T
NM_001040167.2(LFNG):c.482-16_482-13dup
NM_001040167.2(LFNG):c.482-17C>T
NM_001040167.2(LFNG):c.482-20A>G
NM_001040167.2(LFNG):c.486C>T (p.Asn162=)
NM_001040167.2(LFNG):c.501C>T (p.Asn167=)
NM_001040167.2(LFNG):c.528G>A (p.Ala176=)
NM_001040167.2(LFNG):c.549G>A (p.Val183=)
NM_001040167.2(LFNG):c.581+15G>T
NM_001040167.2(LFNG):c.581+18G>A
NM_001040167.2(LFNG):c.581+7G>A rs1428513145
NM_001040167.2(LFNG):c.637C>T (p.Leu213=)
NM_001040167.2(LFNG):c.654G>A (p.Pro218=)
NM_001040167.2(LFNG):c.661C>A (p.Arg221=) rs377387325
NM_001040167.2(LFNG):c.666C>T (p.Asp222=)
NM_001040167.2(LFNG):c.675C>T (p.Val225=)
NM_001040167.2(LFNG):c.735+10T>G rs2128377425
NM_001040167.2(LFNG):c.735+13C>T
NM_001040167.2(LFNG):c.735+18C>T
NM_001040167.2(LFNG):c.736-12C>T
NM_001040167.2(LFNG):c.736-15_736-13del rs750925231
NM_001040167.2(LFNG):c.741T>C (p.Pro247=)
NM_001040167.2(LFNG):c.747C>T (p.His249=)
NM_001040167.2(LFNG):c.765C>A (p.Gly255=)
NM_001040167.2(LFNG):c.765C>T (p.Gly255=)
NM_001040167.2(LFNG):c.780C>T (p.Cys260=)
NM_001040167.2(LFNG):c.813G>A (p.Pro271=)
NM_001040167.2(LFNG):c.822-18G>C
NM_001040167.2(LFNG):c.822-20del
NM_001040167.2(LFNG):c.822-4G>A
NM_001040167.2(LFNG):c.822-6C>A
NM_001040167.2(LFNG):c.843G>A (p.Thr281=) rs766719689
NM_001040167.2(LFNG):c.84G>T (p.Pro28=)
NM_001040167.2(LFNG):c.879C>T (p.Ile293=)
NM_001040167.2(LFNG):c.882C>T (p.Gly294=)
NM_001040167.2(LFNG):c.897C>T (p.Ala299=)
NM_001040167.2(LFNG):c.898C>T (p.Leu300=)
NM_001040167.2(LFNG):c.927C>T (p.Gly309=)
NM_001040167.2(LFNG):c.981C>T (p.His327=)
NM_001040167.2(LFNG):c.984G>A (p.Glu328=)
NM_001040167.2(LFNG):c.987+12T>C rs2128377847
NM_001040167.2(LFNG):c.987+15G>A
NM_001040167.2(LFNG):c.987+16_987+33del
NM_001040167.2(LFNG):c.987+17G>T
NM_001040167.2(LFNG):c.987+8A>G
NM_001040167.2(LFNG):c.993G>A (p.Thr331=)
NM_001102564.3(IFT43):c.147+18dup rs747593685
NM_001102564.3(IFT43):c.215+18A>G
NM_001102564.3(IFT43):c.369-8del rs536027245
NM_001104631.2(PDE4D):c.*1200T>A rs577495801
NM_001104631.2(PDE4D):c.*1201A>T rs559220819
NM_001104631.2(PDE4D):c.*1634_*1635dup rs138187044
NM_001104631.2(PDE4D):c.*2242_*2243del rs148755437
NM_001104631.2(PDE4D):c.*496_*500dup rs527630861
NM_001104631.2(PDE4D):c.*793GTTT[3] rs200995197
NM_001104631.2(PDE4D):c.1288-8dup rs143090133
NM_001104631.2(PDE4D):c.758+11C>A rs202215336
NM_001174147.2(LMX1B):c.*4568C>T rs539011309
NM_001174147.2(LMX1B):c.*634CA[3] rs147813553
NM_001174147.2(LMX1B):c.327-6C>T rs572751023
NM_001174147.2(LMX1B):c.451C>T (p.Arg151Cys) rs149434820
NM_001174147.2(LMX1B):c.546C>T (p.Asp182=) rs34434402
NM_001174147.2(LMX1B):c.723G>T (p.Ser241=) rs368736494
NM_001174147.2(LMX1B):c.783C>T (p.Arg261=)
NM_001174147.2(LMX1B):c.915G>A (p.Met305Ile) rs2118997138
NM_001174147.2(LMX1B):c.929C>T (p.Thr310Met)
NM_001174147.2(LMX1B):c.933G>T (p.Pro311=) rs145052881
NM_001271938.2(MEGF8):c.1005A>G (p.Ala335=) rs2039124115
NM_001271938.2(MEGF8):c.1014G>A (p.Ala338=)
NM_001271938.2(MEGF8):c.1137G>C (p.Val379=) rs1219090266
NM_001271938.2(MEGF8):c.1158C>G (p.Pro386=)
NM_001271938.2(MEGF8):c.1244+19A>T
NM_001271938.2(MEGF8):c.1245-11T>G
NM_001271938.2(MEGF8):c.1245-9_1245-8del
NM_001271938.2(MEGF8):c.1497G>A (p.Pro499=)
NM_001271938.2(MEGF8):c.1557G>A (p.Ala519=)
NM_001271938.2(MEGF8):c.1638C>T (p.Pro546=)
NM_001271938.2(MEGF8):c.1669-8C>T
NM_001271938.2(MEGF8):c.1797C>T (p.Ala599=) rs749153853
NM_001271938.2(MEGF8):c.1914G>A (p.Glu638=)
NM_001271938.2(MEGF8):c.1934-12C>G rs2147465024
NM_001271938.2(MEGF8):c.1934-21_1934-18del rs2039263296
NM_001271938.2(MEGF8):c.1934-6T>G
NM_001271938.2(MEGF8):c.2073G>A (p.Pro691=)
NM_001271938.2(MEGF8):c.2097+14G>A
NM_001271938.2(MEGF8):c.2340G>A (p.Thr780=) rs776196677
NM_001271938.2(MEGF8):c.2355C>A (p.Arg785=)
NM_001271938.2(MEGF8):c.2355C>T (p.Arg785=)
NM_001271938.2(MEGF8):c.2427C>G (p.Leu809=)
NM_001271938.2(MEGF8):c.246G>T (p.Thr82=) rs369259465
NM_001271938.2(MEGF8):c.2500-10C>T
NM_001271938.2(MEGF8):c.261C>T (p.Phe87=)
NM_001271938.2(MEGF8):c.2631C>A (p.Gly877=)
NM_001271938.2(MEGF8):c.2643C>T (p.Cys881=)
NM_001271938.2(MEGF8):c.2737-20T>A
NM_001271938.2(MEGF8):c.2751G>A (p.Glu917=)
NM_001271938.2(MEGF8):c.2796G>T (p.Arg932=)
NM_001271938.2(MEGF8):c.2802C>T (p.Gly934=)
NM_001271938.2(MEGF8):c.282G>C (p.Pro94=)
NM_001271938.2(MEGF8):c.2855+12T>C
NM_001271938.2(MEGF8):c.2856-20C>T
NM_001271938.2(MEGF8):c.291G>T (p.Pro97=)
NM_001271938.2(MEGF8):c.2982C>T (p.Asp994=)
NM_001271938.2(MEGF8):c.2988-15C>A
NM_001271938.2(MEGF8):c.3057C>T (p.His1019=)
NM_001271938.2(MEGF8):c.3210C>T (p.Ala1070=)
NM_001271938.2(MEGF8):c.3228T>C (p.Asp1076=)
NM_001271938.2(MEGF8):c.3294C>T (p.Tyr1098=)
NM_001271938.2(MEGF8):c.3350+12G>A
NM_001271938.2(MEGF8):c.3351-11C>T
NM_001271938.2(MEGF8):c.3426A>G (p.Thr1142=)
NM_001271938.2(MEGF8):c.3498C>T (p.Ser1166=) rs1600051149
NM_001271938.2(MEGF8):c.351+18C>T
NM_001271938.2(MEGF8):c.351+20T>C
NM_001271938.2(MEGF8):c.352-13C>T
NM_001271938.2(MEGF8):c.352-16C>T
NM_001271938.2(MEGF8):c.3588C>T (p.Pro1196=)
NM_001271938.2(MEGF8):c.3861T>C (p.Pro1287=)
NM_001271938.2(MEGF8):c.3975C>T (p.Thr1325=)
NM_001271938.2(MEGF8):c.4012-4C>G rs1405166507
NM_001271938.2(MEGF8):c.4012-6C>G
NM_001271938.2(MEGF8):c.4074G>A (p.Ser1358=)
NM_001271938.2(MEGF8):c.4145-10C>G
NM_001271938.2(MEGF8):c.4149G>A (p.Leu1383=)
NM_001271938.2(MEGF8):c.4200T>C (p.Ala1400=)
NM_001271938.2(MEGF8):c.4212T>G (p.Ser1404=)
NM_001271938.2(MEGF8):c.4236C>T (p.Pro1412=)
NM_001271938.2(MEGF8):c.4251C>T (p.Val1417=)
NM_001271938.2(MEGF8):c.4275C>T (p.Asp1425=)
NM_001271938.2(MEGF8):c.428C>A (p.Pro143Gln)
NM_001271938.2(MEGF8):c.4365C>T (p.Ala1455=)
NM_001271938.2(MEGF8):c.4393-19G>C
NM_001271938.2(MEGF8):c.4407C>T (p.Cys1469=)
NM_001271938.2(MEGF8):c.4488C>T (p.Asp1496=)
NM_001271938.2(MEGF8):c.4504-11C>T
NM_001271938.2(MEGF8):c.4567T>C (p.Leu1523=) rs2039453501
NM_001271938.2(MEGF8):c.4623-5C>A
NM_001271938.2(MEGF8):c.4668C>T (p.Ala1556=)
NM_001271938.2(MEGF8):c.4764C>T (p.Thr1588=)
NM_001271938.2(MEGF8):c.480C>T (p.Cys160=)
NM_001271938.2(MEGF8):c.4830+19C>T
NM_001271938.2(MEGF8):c.4831-11C>T
NM_001271938.2(MEGF8):c.4857C>T (p.Ala1619=)
NM_001271938.2(MEGF8):c.486G>A (p.Pro162=)
NM_001271938.2(MEGF8):c.4929T>C (p.Asn1643=)
NM_001271938.2(MEGF8):c.4968C>T (p.Thr1656=)
NM_001271938.2(MEGF8):c.4989C>A (p.Ala1663=)
NM_001271938.2(MEGF8):c.5007C>A (p.Pro1669=) rs755932452
NM_001271938.2(MEGF8):c.5011+20G>T
NM_001271938.2(MEGF8):c.5025C>T (p.His1675=) rs2147488751
NM_001271938.2(MEGF8):c.5049C>T (p.Thr1683=)
NM_001271938.2(MEGF8):c.5100C>A (p.Ala1700=)
NM_001271938.2(MEGF8):c.5136C>T (p.Asp1712=)
NM_001271938.2(MEGF8):c.5176-12C>G
NM_001271938.2(MEGF8):c.5176-18C>T
NM_001271938.2(MEGF8):c.519G>A (p.Glu173=)
NM_001271938.2(MEGF8):c.5275A>G (p.Met1759Val)
NM_001271938.2(MEGF8):c.5281C>G (p.Leu1761Val) rs150607375
NM_001271938.2(MEGF8):c.5343+16G>A
NM_001271938.2(MEGF8):c.5343+17G>A rs2147490241
NM_001271938.2(MEGF8):c.5344-16C>A
NM_001271938.2(MEGF8):c.5344-17C>A rs780933404
NM_001271938.2(MEGF8):c.5346C>A (p.Pro1782=)
NM_001271938.2(MEGF8):c.5376G>C (p.Leu1792=) rs2147490712
NM_001271938.2(MEGF8):c.5427C>T (p.Phe1809=)
NM_001271938.2(MEGF8):c.5478C>T (p.Pro1826=)
NM_001271938.2(MEGF8):c.5547C>T (p.Val1849=)
NM_001271938.2(MEGF8):c.5555G>A (p.Arg1852His)
NM_001271938.2(MEGF8):c.5577C>T (p.Phe1859=)
NM_001271938.2(MEGF8):c.559-18_559-17del rs2147448565
NM_001271938.2(MEGF8):c.559-5C>T
NM_001271938.2(MEGF8):c.5720+12G>A
NM_001271938.2(MEGF8):c.5720+19A>C rs2039524149
NM_001271938.2(MEGF8):c.5730C>T (p.Cys1910=)
NM_001271938.2(MEGF8):c.5733G>A (p.Gly1911=)
NM_001271938.2(MEGF8):c.5847G>A (p.Ala1949=)
NM_001271938.2(MEGF8):c.592T>C (p.Leu198=)
NM_001271938.2(MEGF8):c.5934T>C (p.Cys1978=)
NM_001271938.2(MEGF8):c.6003C>T (p.Cys2001=) rs536661123
NM_001271938.2(MEGF8):c.6039G>A (p.Thr2013=)
NM_001271938.2(MEGF8):c.6058+5G>T
NM_001271938.2(MEGF8):c.6081C>T (p.Ser2027=)
NM_001271938.2(MEGF8):c.6087G>A (p.Gln2029=)
NM_001271938.2(MEGF8):c.6105G>A (p.Thr2035=)
NM_001271938.2(MEGF8):c.6163C>T (p.Leu2055=)
NM_001271938.2(MEGF8):c.6267G>A (p.Leu2089=) rs934116600
NM_001271938.2(MEGF8):c.6274-18C>T
NM_001271938.2(MEGF8):c.6274-7C>G
NM_001271938.2(MEGF8):c.6274-7C>T rs772512683
NM_001271938.2(MEGF8):c.6312C>T (p.Ala2104=)
NM_001271938.2(MEGF8):c.6381C>T (p.Cys2127=) rs532126083
NM_001271938.2(MEGF8):c.6474C>T (p.Pro2158=)
NM_001271938.2(MEGF8):c.648C>T (p.His216=)
NM_001271938.2(MEGF8):c.6624C>T (p.Thr2208=)
NM_001271938.2(MEGF8):c.6641+17C>T
NM_001271938.2(MEGF8):c.6798G>A (p.Ala2266=)
NM_001271938.2(MEGF8):c.6834+8G>A
NM_001271938.2(MEGF8):c.6882C>T (p.Val2294=)
NM_001271938.2(MEGF8):c.6960A>G (p.Gln2320=)
NM_001271938.2(MEGF8):c.699C>T (p.Gly233=)
NM_001271938.2(MEGF8):c.7116C>G (p.Leu2372=)
NM_001271938.2(MEGF8):c.7215G>A (p.Thr2405=)
NM_001271938.2(MEGF8):c.7248T>C (p.Arg2416=)
NM_001271938.2(MEGF8):c.7270-20G>A
NM_001271938.2(MEGF8):c.7270-5C>T
NM_001271938.2(MEGF8):c.7296C>T (p.His2432=)
NM_001271938.2(MEGF8):c.735C>T (p.Phe245=)
NM_001271938.2(MEGF8):c.739+11G>C
NM_001271938.2(MEGF8):c.7416C>T (p.Pro2472=)
NM_001271938.2(MEGF8):c.7422C>T (p.Arg2474=)
NM_001271938.2(MEGF8):c.7473G>A (p.Leu2491=)
NM_001271938.2(MEGF8):c.7560C>T (p.Gly2520=)
NM_001271938.2(MEGF8):c.7590A>G (p.Pro2530=)
NM_001271938.2(MEGF8):c.7674G>A (p.Pro2558=)
NM_001271938.2(MEGF8):c.7674G>C (p.Pro2558=) rs774279106
NM_001271938.2(MEGF8):c.771C>T (p.Leu257=)
NM_001271938.2(MEGF8):c.7743G>A (p.Thr2581=)
NM_001271938.2(MEGF8):c.7758G>A (p.Val2586=)
NM_001271938.2(MEGF8):c.7770C>T (p.Arg2590=)
NM_001271938.2(MEGF8):c.7786C>T (p.Leu2596=)
NM_001271938.2(MEGF8):c.7843C>T (p.Leu2615=)
NM_001271938.2(MEGF8):c.7854C>T (p.Gly2618=)
NM_001271938.2(MEGF8):c.7878C>T (p.Gly2626=)
NM_001271938.2(MEGF8):c.7893C>G (p.Ala2631=) rs150486662
NM_001271938.2(MEGF8):c.7941C>T (p.Asp2647=)
NM_001271938.2(MEGF8):c.7959C>T (p.Ser2653=)
NM_001271938.2(MEGF8):c.7968C>T (p.Phe2656=)
NM_001271938.2(MEGF8):c.7C>T (p.Leu3=)
NM_001271938.2(MEGF8):c.8103C>T (p.Thr2701=)
NM_001271938.2(MEGF8):c.8109C>T (p.Cys2703=)
NM_001271938.2(MEGF8):c.8220C>T (p.Ala2740=)
NM_001271938.2(MEGF8):c.828+11C>T
NM_001271938.2(MEGF8):c.8466_8467delinsAG (p.Ser2823Gly) rs2039775950
NM_001271938.2(MEGF8):c.8532C>T (p.Ser2844=)
NM_001271938.2(MEGF8):c.864C>T (p.Ala288=)
NM_001271938.2(MEGF8):c.937C>T (p.Leu313=)
NM_001278689.2(EOGT):c.1084-8G>T
NM_001278689.2(EOGT):c.1137C>A (p.Ile379=)
NM_001278689.2(EOGT):c.1152+14A>G
NM_001278689.2(EOGT):c.1153-17T>G
NM_001278689.2(EOGT):c.1158A>G (p.Val386=)
NM_001278689.2(EOGT):c.1209G>A (p.Lys403=) rs981266167
NM_001278689.2(EOGT):c.1214+16T>C
NM_001278689.2(EOGT):c.1215-18T>G
NM_001278689.2(EOGT):c.124T>C (p.Leu42=)
NM_001278689.2(EOGT):c.1386C>T (p.Gly462=) rs1575701273
NM_001278689.2(EOGT):c.1437+11A>G
NM_001278689.2(EOGT):c.1437+15C>G
NM_001278689.2(EOGT):c.1438-8T>A
NM_001278689.2(EOGT):c.1446T>C (p.His482=)
NM_001278689.2(EOGT):c.1455G>C (p.Leu485=)
NM_001278689.2(EOGT):c.1458G>A (p.Gly486=)
NM_001278689.2(EOGT):c.1467G>A (p.Pro489=)
NM_001278689.2(EOGT):c.204A>G (p.Pro68=)
NM_001278689.2(EOGT):c.210+10A>C rs1410315129
NM_001278689.2(EOGT):c.211-9A>G
NM_001278689.2(EOGT):c.252A>G (p.Lys84=)
NM_001278689.2(EOGT):c.300C>G (p.Val100=)
NM_001278689.2(EOGT):c.311+12del
NM_001278689.2(EOGT):c.312-10T>C rs1559615651
NM_001278689.2(EOGT):c.312-20A>G
NM_001278689.2(EOGT):c.315G>A (p.Thr105=)
NM_001278689.2(EOGT):c.357T>C (p.Ala119=)
NM_001278689.2(EOGT):c.421-16T>A
NM_001278689.2(EOGT):c.421-19T>C
NM_001278689.2(EOGT):c.421-6C>T
NM_001278689.2(EOGT):c.45A>C (p.Ser15=)
NM_001278689.2(EOGT):c.471C>A (p.Thr157=) rs560607406
NM_001278689.2(EOGT):c.495C>T (p.Asn165=)
NM_001278689.2(EOGT):c.515+17T>C
NM_001278689.2(EOGT):c.516-23_516-19del rs373543747
NM_001278689.2(EOGT):c.516-8T>C
NM_001278689.2(EOGT):c.585G>A (p.Thr195=)
NM_001278689.2(EOGT):c.618A>T (p.Ser206=) rs373952598
NM_001278689.2(EOGT):c.620+16C>T
NM_001278689.2(EOGT):c.620+19A>T
NM_001278689.2(EOGT):c.621-14A>T
NM_001278689.2(EOGT):c.621-14del
NM_001278689.2(EOGT):c.663T>A (p.Pro221=)
NM_001278689.2(EOGT):c.727+16T>G
NM_001278689.2(EOGT):c.728-7A>C
NM_001278689.2(EOGT):c.831+19T>A
NM_001286577.2(C2CD3):c.1160C>G (p.Thr387Arg)
NM_001374353.1(GLI2):c.1059+20A>G
NM_001374353.1(GLI2):c.1059+8G>A
NM_001374353.1(GLI2):c.1060-12A>G
NM_001374353.1(GLI2):c.1060-18C>T
NM_001374353.1(GLI2):c.1083C>T (p.Ala361=)
NM_001374353.1(GLI2):c.1137C>T (p.Thr379=)
NM_001374353.1(GLI2):c.1179G>A (p.Thr393=)
NM_001374353.1(GLI2):c.1183-4C>T rs1682382173
NM_001374353.1(GLI2):c.1183-65C>T
NM_001374353.1(GLI2):c.1183-68C>T
NM_001374353.1(GLI2):c.1318-14T>C
NM_001374353.1(GLI2):c.1341C>T (p.His447=)
NM_001374353.1(GLI2):c.135A>G (p.Val45=)
NM_001374353.1(GLI2):c.1428C>T (p.His476=)
NM_001374353.1(GLI2):c.1467+9C>T
NM_001374353.1(GLI2):c.1468-12G>A
NM_001374353.1(GLI2):c.1468-13C>T
NM_001374353.1(GLI2):c.1471G>A (p.Glu491Lys)
NM_001374353.1(GLI2):c.148+12T>A rs2104697160
NM_001374353.1(GLI2):c.148+20C>T
NM_001374353.1(GLI2):c.1560C>T (p.His520=)
NM_001374353.1(GLI2):c.1584C>G (p.Ser528=) rs2105064545
NM_001374353.1(GLI2):c.1599C>T (p.Arg533=)
NM_001374353.1(GLI2):c.1633-14G>T
NM_001374353.1(GLI2):c.1731C>T (p.His577=)
NM_001374353.1(GLI2):c.1737C>G (p.Thr579=)
NM_001374353.1(GLI2):c.1833C>T (p.Thr611=)
NM_001374353.1(GLI2):c.1899C>T (p.Ser633=)
NM_001374353.1(GLI2):c.1902C>T (p.Ser634=)
NM_001374353.1(GLI2):c.1905+12T>C
NM_001374353.1(GLI2):c.1906-12C>T
NM_001374353.1(GLI2):c.1923C>G (p.Pro641=)
NM_001374353.1(GLI2):c.1929C>T (p.Ala643=) rs1682970189
NM_001374353.1(GLI2):c.1932G>A (p.Gln644=)
NM_001374353.1(GLI2):c.2001G>A (p.Pro667=)
NM_001374353.1(GLI2):c.2064C>T (p.Asp688=)
NM_001374353.1(GLI2):c.2196G>A (p.Pro732=)
NM_001374353.1(GLI2):c.2209C>A (p.Arg737=) rs138932004
NM_001374353.1(GLI2):c.2242+18G>T
NM_001374353.1(GLI2):c.2403C>T (p.Thr801=) rs1440441101
NM_001374353.1(GLI2):c.2466G>A (p.Ser822=)
NM_001374353.1(GLI2):c.2481C>G (p.Gly827=)
NM_001374353.1(GLI2):c.253G>A (p.Gly85Arg)
NM_001374353.1(GLI2):c.254+16T>C
NM_001374353.1(GLI2):c.2577C>T (p.Ser859=)
NM_001374353.1(GLI2):c.2580G>A (p.Gly860=)
NM_001374353.1(GLI2):c.2589C>A (p.Asn863Lys)
NM_001374353.1(GLI2):c.258C>T (p.Pro86=)
NM_001374353.1(GLI2):c.2617C>A (p.Arg873=)
NM_001374353.1(GLI2):c.2631G>C (p.Ala877=)
NM_001374353.1(GLI2):c.2652G>T (p.Pro884=) rs926908365
NM_001374353.1(GLI2):c.2694C>G (p.Thr898=)
NM_001374353.1(GLI2):c.2715G>T (p.Ala905=)
NM_001374353.1(GLI2):c.2748C>T (p.Arg916=)
NM_001374353.1(GLI2):c.2751A>C (p.Pro917=)
NM_001374353.1(GLI2):c.2877C>T (p.Pro959=)
NM_001374353.1(GLI2):c.2883C>G (p.Ala961=)
NM_001374353.1(GLI2):c.2949C>T (p.Pro983=)
NM_001374353.1(GLI2):c.2982C>T (p.Ser994=)
NM_001374353.1(GLI2):c.3015C>T (p.Gly1005=)
NM_001374353.1(GLI2):c.3072G>C (p.Ala1024=)
NM_001374353.1(GLI2):c.3084C>T (p.Asp1028=)
NM_001374353.1(GLI2):c.3090G>A (p.Ala1030=) rs749578390
NM_001374353.1(GLI2):c.3117G>A (p.Pro1039=)
NM_001374353.1(GLI2):c.3195C>T (p.Thr1065=)
NM_001374353.1(GLI2):c.3213G>A (p.Thr1071=)
NM_001374353.1(GLI2):c.321G>T (p.Pro107=)
NM_001374353.1(GLI2):c.3255G>A (p.Pro1085=)
NM_001374353.1(GLI2):c.3418C>T (p.Leu1140=) rs141988240
NM_001374353.1(GLI2):c.3423C>A (p.Ala1141=)
NM_001374353.1(GLI2):c.3465G>A (p.Ala1155=) rs141356812
NM_001374353.1(GLI2):c.3468G>T (p.Val1156=)
NM_001374353.1(GLI2):c.3501G>A (p.Pro1167=)
NM_001374353.1(GLI2):c.3504C>T (p.Gly1168=)
NM_001374353.1(GLI2):c.3513G>A (p.Pro1171=)
NM_001374353.1(GLI2):c.3585C>T (p.Pro1195=)
NM_001374353.1(GLI2):c.3603G>A (p.Arg1201=) rs2105093446
NM_001374353.1(GLI2):c.3612C>T (p.Tyr1204=)
NM_001374353.1(GLI2):c.3624G>T (p.Leu1208=)
NM_001374353.1(GLI2):c.3699C>T (p.Val1233=) rs1195795024
NM_001374353.1(GLI2):c.3732G>T (p.Gly1244=)
NM_001374353.1(GLI2):c.3841C>T (p.Arg1281Cys)
NM_001374353.1(GLI2):c.3879T>C (p.Ala1293=)
NM_001374353.1(GLI2):c.3951G>A (p.Gln1317=)
NM_001374353.1(GLI2):c.4023G>A (p.Pro1341=)
NM_001374353.1(GLI2):c.4074C>T (p.Leu1358=)
NM_001374353.1(GLI2):c.4110T>G (p.Arg1370=)
NM_001374353.1(GLI2):c.4135G>A (p.Ala1379Thr)
NM_001374353.1(GLI2):c.4254C>T (p.Asp1418=)
NM_001374353.1(GLI2):c.4258G>A (p.Gly1420Ser) rs149163880
NM_001374353.1(GLI2):c.4269G>A (p.Pro1423=)
NM_001374353.1(GLI2):c.4327C>T (p.Leu1443=)
NM_001374353.1(GLI2):c.4338C>T (p.Leu1446=)
NM_001374353.1(GLI2):c.4404C>G (p.Pro1468=)
NM_001374353.1(GLI2):c.4509T>C (p.Asp1503=)
NM_001374353.1(GLI2):c.4515G>A (p.Ser1505=)
NM_001374353.1(GLI2):c.4560C>A (p.Leu1520=) rs1335405295
NM_001374353.1(GLI2):c.4560C>T (p.Leu1520=)
NM_001374353.1(GLI2):c.4620C>T (p.Pro1540=)
NM_001374353.1(GLI2):c.4644C>T (p.Val1548=)
NM_001374353.1(GLI2):c.564G>A (p.Ala188=)
NM_001374353.1(GLI2):c.594G>T (p.Gly198=)
NM_001374353.1(GLI2):c.621C>T (p.His207=)
NM_001374353.1(GLI2):c.643+15_643+16delinsTG rs2104965814
NM_001374353.1(GLI2):c.643+16C>A
NM_001374353.1(GLI2):c.644-11C>T
NM_001374353.1(GLI2):c.654C>T (p.Phe218=)
NM_001374353.1(GLI2):c.693G>A (p.Arg231=)
NM_001374353.1(GLI2):c.753C>T (p.Thr251=)
NM_001374353.1(GLI2):c.75C>T (p.Phe25=)
NM_001374353.1(GLI2):c.804G>A (p.Ala268=)
NM_001374353.1(GLI2):c.845+17A>G
NM_001374353.1(GLI2):c.861C>T (p.Phe287=) rs2105019550
NM_001374353.1(GLI2):c.945C>T (p.Pro315=)
NM_001374353.1(GLI2):c.996C>T (p.Thr332=)
NM_001379081.2(FREM1):c.3480G>A (p.Glu1160=)
NM_001379081.2(FREM1):c.3517G>T (p.Ala1173Ser) rs564039071
NM_001379081.2(FREM1):c.4563C>A (p.Ala1521=) rs60091943
NM_001379081.2(FREM1):c.483C>T (p.Phe161=) rs540878376
NM_001379081.2(FREM1):c.516C>T (p.Thr172=) rs41265310
NM_001379081.2(FREM1):c.5316G>T (p.Ser1772=) rs775863172
NM_001379081.2(FREM1):c.5335-11del rs140882884
NM_001379081.2(FREM1):c.5603C>T (p.Thr1868Ile)
NM_001384732.1(CPLANE1):c.1311A>G (p.Ser437=) rs761587080
NM_001384732.1(CPLANE1):c.1522-16dup rs370335300
NM_001384732.1(CPLANE1):c.2746+15_2746+16del rs751625561
NM_001384732.1(CPLANE1):c.2746+16dup rs751625561
NM_001384732.1(CPLANE1):c.3673-8_3673-4del rs1163206555
NM_001384732.1(CPLANE1):c.5263A>G (p.Asn1755Asp)
NM_001384732.1(CPLANE1):c.699T>C (p.His233=) rs762115051
NM_001384732.1(CPLANE1):c.8011+12del rs774770884
NM_001384732.1(CPLANE1):c.8374-13G>T rs771664716
NM_001395413.1(POR):c.1390-34_1390-33delinsCT
NM_001429.4(EP300):c.*1083_*1085del rs561433394
NM_001429.4(EP300):c.*340dup rs561569141
NM_001429.4(EP300):c.1128A>G (p.Leu376=)
NM_001429.4(EP300):c.1169-11C>G
NM_001429.4(EP300):c.1169-11C>T
NM_001429.4(EP300):c.1169-12T>C
NM_001429.4(EP300):c.1169-17T>C
NM_001429.4(EP300):c.1169-19T>A
NM_001429.4(EP300):c.1169-4T>C
NM_001429.4(EP300):c.1283-14T>C
NM_001429.4(EP300):c.1283-20A>G
NM_001429.4(EP300):c.1293T>C (p.Thr431=)
NM_001429.4(EP300):c.1308A>G (p.Gly436=)
NM_001429.4(EP300):c.1334T>A (p.Val445Glu)
NM_001429.4(EP300):c.1351C>G (p.Pro451Ala) rs151308825
NM_001429.4(EP300):c.1355A>G (p.Asn452Ser)
NM_001429.4(EP300):c.1366G>A (p.Val456Ile)
NM_001429.4(EP300):c.1374G>A (p.Gln458=)
NM_001429.4(EP300):c.1467G>T (p.Lys489Asn)
NM_001429.4(EP300):c.1478A>G (p.Asn493Ser)
NM_001429.4(EP300):c.1528+17C>G
NM_001429.4(EP300):c.1528+19A>G
NM_001429.4(EP300):c.1528+9G>A
NM_001429.4(EP300):c.1529-12A>G
NM_001429.4(EP300):c.1529-19T>G
NM_001429.4(EP300):c.1541T>C (p.Met514Thr) rs758573292
NM_001429.4(EP300):c.1572G>T (p.Thr524=)
NM_001429.4(EP300):c.1585T>C (p.Ser529Pro)
NM_001429.4(EP300):c.1622+10A>T
NM_001429.4(EP300):c.1635T>A (p.Ser545Arg)
NM_001429.4(EP300):c.1651C>G (p.Pro551Ala)
NM_001429.4(EP300):c.1666A>G (p.Met556Val)
NM_001429.4(EP300):c.1671A>G (p.Pro557=)
NM_001429.4(EP300):c.1683A>G (p.Gln561=)
NM_001429.4(EP300):c.1686A>G (p.Pro562=)
NM_001429.4(EP300):c.1704G>C (p.Arg568=)
NM_001429.4(EP300):c.1760+11T>C
NM_001429.4(EP300):c.1761-10C>G
NM_001429.4(EP300):c.1761-16G>A
NM_001429.4(EP300):c.1839G>A (p.Arg613=)
NM_001429.4(EP300):c.2034G>A (p.Pro678=)
NM_001429.4(EP300):c.2053+17A>G
NM_001429.4(EP300):c.2053+8_2053+11del
NM_001429.4(EP300):c.2054-16C>T
NM_001429.4(EP300):c.2054-19T>C
NM_001429.4(EP300):c.2067T>C (p.Pro689=)
NM_001429.4(EP300):c.2093T>C (p.Val698Ala)
NM_001429.4(EP300):c.2132-11C>G
NM_001429.4(EP300):c.2132-15T>C
NM_001429.4(EP300):c.2132-8A>T
NM_001429.4(EP300):c.2183G>A (p.Arg728Gln)
NM_001429.4(EP300):c.2184G>A (p.Arg728=)
NM_001429.4(EP300):c.2184G>T (p.Arg728=)
NM_001429.4(EP300):c.2187A>G (p.Gln729=)
NM_001429.4(EP300):c.2242-15T>G
NM_001429.4(EP300):c.2242-17T>G
NM_001429.4(EP300):c.2242-7T>C
NM_001429.4(EP300):c.2249G>A (p.Gly750Asp) rs1433543827
NM_001429.4(EP300):c.2285G>A (p.Gly762Asp)
NM_001429.4(EP300):c.2313A>G (p.Pro771=)
NM_001429.4(EP300):c.2379+8T>C
NM_001429.4(EP300):c.2380-19A>C
NM_001429.4(EP300):c.2380-19_2380-15del
NM_001429.4(EP300):c.2463G>A (p.Gln821=)
NM_001429.4(EP300):c.2534C>T (p.Thr845Ile)
NM_001429.4(EP300):c.2537C>T (p.Pro846Leu)
NM_001429.4(EP300):c.2550G>T (p.Gly850=)
NM_001429.4(EP300):c.2598T>A (p.Pro866=)
NM_001429.4(EP300):c.2632C>T (p.Leu878=)
NM_001429.4(EP300):c.2636A>C (p.His879Pro)
NM_001429.4(EP300):c.2640C>G (p.Pro880=)
NM_001429.4(EP300):c.2690T>C (p.Val897Ala)
NM_001429.4(EP300):c.2730C>T (p.Pro910=)
NM_001429.4(EP300):c.2757C>T (p.Ser919=)
NM_001429.4(EP300):c.2781A>G (p.Pro927=)
NM_001429.4(EP300):c.2790G>A (p.Pro930=)
NM_001429.4(EP300):c.2802G>T (p.Pro934=)
NM_001429.4(EP300):c.2805G>A (p.Gln935=)
NM_001429.4(EP300):c.2818-18C>T
NM_001429.4(EP300):c.2818-19C>A
NM_001429.4(EP300):c.2818-20T>G
NM_001429.4(EP300):c.2818-5C>T
NM_001429.4(EP300):c.2818-8C>G
NM_001429.4(EP300):c.2818-9T>C
NM_001429.4(EP300):c.2829A>G (p.Pro943=)
NM_001429.4(EP300):c.2868T>C (p.Ser956=)
NM_001429.4(EP300):c.2876G>T (p.Ser959Ile) rs1308182502
NM_001429.4(EP300):c.2898C>T (p.Ala966=)
NM_001429.4(EP300):c.2900T>G (p.Ile967Ser)
NM_001429.4(EP300):c.2917T>G (p.Ser973Ala)
NM_001429.4(EP300):c.2940C>T (p.Ala980=)
NM_001429.4(EP300):c.2974A>G (p.Thr992Ala)
NM_001429.4(EP300):c.2997+10G>A
NM_001429.4(EP300):c.2997+14A>G
NM_001429.4(EP300):c.2998-13C>T
NM_001429.4(EP300):c.2998-3del rs528974321
NM_001429.4(EP300):c.3003A>C (p.Lys1001Asn)
NM_001429.4(EP300):c.3123A>G (p.Pro1041=)
NM_001429.4(EP300):c.3138A>G (p.Lys1046=)
NM_001429.4(EP300):c.3142+17A>T
NM_001429.4(EP300):c.3142+20C>T
NM_001429.4(EP300):c.3142+8T>C
NM_001429.4(EP300):c.3142+9C>T
NM_001429.4(EP300):c.3143-12T>C
NM_001429.4(EP300):c.3143-15C>A
NM_001429.4(EP300):c.3143-19T>G
NM_001429.4(EP300):c.3216C>T (p.Ser1072=)
NM_001429.4(EP300):c.3258C>A (p.Ile1086=)
NM_001429.4(EP300):c.3261+10T>C
NM_001429.4(EP300):c.3261+11G>A
NM_001429.4(EP300):c.3261+14G>A
NM_001429.4(EP300):c.3261+8T>G
NM_001429.4(EP300):c.3262-9T>C
NM_001429.4(EP300):c.3285C>T (p.Ser1095=) rs971045982
NM_001429.4(EP300):c.3352G>A (p.Val1118Ile)
NM_001429.4(EP300):c.3357T>C (p.Asp1119=)
NM_001429.4(EP300):c.3384C>T (p.Ala1128=)
NM_001429.4(EP300):c.338C>T (p.Pro113Leu)
NM_001429.4(EP300):c.3410G>A (p.Arg1137Gln)
NM_001429.4(EP300):c.3417C>T (p.Tyr1139=) rs952398016
NM_001429.4(EP300):c.342A>G (p.Gly114=)
NM_001429.4(EP300):c.346G>A (p.Gly116Ser)
NM_001429.4(EP300):c.3502-17A>C
NM_001429.4(EP300):c.3534C>T (p.Tyr1178=)
NM_001429.4(EP300):c.3591-5G>A
NM_001429.4(EP300):c.3624C>A (p.Ile1208=) rs143660871
NM_001429.4(EP300):c.3624C>G (p.Ile1208Met) rs143660871
NM_001429.4(EP300):c.3624C>T (p.Ile1208=) rs143660871
NM_001429.4(EP300):c.3659C>G (p.Ser1220Cys)
NM_001429.4(EP300):c.3660C>G (p.Ser1220=)
NM_001429.4(EP300):c.3671+16A>C
NM_001429.4(EP300):c.3671+5_3671+7dup
NM_001429.4(EP300):c.3672-9T>C
NM_001429.4(EP300):c.3675A>G (p.Thr1225=)
NM_001429.4(EP300):c.3704A>G (p.Lys1235Arg)
NM_001429.4(EP300):c.3711C>T (p.Asp1237=)
NM_001429.4(EP300):c.3728+13C>T
NM_001429.4(EP300):c.3728+8C>T
NM_001429.4(EP300):c.3728+9G>A
NM_001429.4(EP300):c.3729-19A>G
NM_001429.4(EP300):c.3729-6T>C
NM_001429.4(EP300):c.3729-8T>C
NM_001429.4(EP300):c.3751G>A (p.Gly1251Arg)
NM_001429.4(EP300):c.3790A>C (p.Ile1264Leu)
NM_001429.4(EP300):c.3802G>T (p.Ala1268Ser)
NM_001429.4(EP300):c.3806+11A>G
NM_001429.4(EP300):c.3806+12C>T
NM_001429.4(EP300):c.3806+13G>A
NM_001429.4(EP300):c.3807-12G>A
NM_001429.4(EP300):c.3807-7C>T
NM_001429.4(EP300):c.3810C>T (p.Phe1270=)
NM_001429.4(EP300):c.3819T>C (p.Asp1273=)
NM_001429.4(EP300):c.3870T>C (p.Ala1290=)
NM_001429.4(EP300):c.3872A>C (p.Lys1291Thr)
NM_001429.4(EP300):c.3874+13C>T
NM_001429.4(EP300):c.3875-19_3875-18del
NM_001429.4(EP300):c.390C>T (p.Gly130=)
NM_001429.4(EP300):c.4005A>G (p.Val1335=) rs1462493430
NM_001429.4(EP300):c.4025+12T>A
NM_001429.4(EP300):c.4026-11C>T
NM_001429.4(EP300):c.4026-12T>G
NM_001429.4(EP300):c.4065C>T (p.Tyr1355=)
NM_001429.4(EP300):c.4080C>T (p.Leu1360=)
NM_001429.4(EP300):c.4086C>A (p.Ala1362=)
NM_001429.4(EP300):c.4107T>G (p.Val1369=)
NM_001429.4(EP300):c.4131T>C (p.His1377=)
NM_001429.4(EP300):c.4149T>C (p.Ser1383=)
NM_001429.4(EP300):c.4155C>T (p.Cys1385=)
NM_001429.4(EP300):c.4172+11C>T
NM_001429.4(EP300):c.4172+16A>C
NM_001429.4(EP300):c.4172+5del
NM_001429.4(EP300):c.4172+7C>T
NM_001429.4(EP300):c.4173-15C>G
NM_001429.4(EP300):c.4173-17C>A
NM_001429.4(EP300):c.4173-17_4173-8del
NM_001429.4(EP300):c.4173-4A>G
NM_001429.4(EP300):c.4173-6G>A rs753407510
NM_001429.4(EP300):c.4221A>G (p.Lys1407=)
NM_001429.4(EP300):c.4252C>T (p.Leu1418=)
NM_001429.4(EP300):c.4287-20C>G
NM_001429.4(EP300):c.4353T>C (p.His1451=)
NM_001429.4(EP300):c.4377G>A (p.Lys1459=)
NM_001429.4(EP300):c.442A>G (p.Thr148Ala)
NM_001429.4(EP300):c.444G>C (p.Thr148=) rs376779611
NM_001429.4(EP300):c.4452+10G>C
NM_001429.4(EP300):c.4452+18G>A rs548353389
NM_001429.4(EP300):c.4452+8G>A
NM_001429.4(EP300):c.4453-6T>C
NM_001429.4(EP300):c.4455T>C (p.Asp1485=)
NM_001429.4(EP300):c.4512C>T (p.Phe1504=)
NM_001429.4(EP300):c.457A>G (p.Met153Val)
NM_001429.4(EP300):c.458T>C (p.Met153Thr)
NM_001429.4(EP300):c.4611C>A (p.Ser1537Arg)
NM_001429.4(EP300):c.4617+10T>C
NM_001429.4(EP300):c.4617+13A>G
NM_001429.4(EP300):c.4617+17dup
NM_001429.4(EP300):c.4617+18C>T
NM_001429.4(EP300):c.4617+9A>C
NM_001429.4(EP300):c.4618-19C>T
NM_001429.4(EP300):c.4618-9A>G
NM_001429.4(EP300):c.4623C>T (p.Thr1541=)
NM_001429.4(EP300):c.4668C>T (p.Thr1556=)
NM_001429.4(EP300):c.4740C>T (p.Leu1580=)
NM_001429.4(EP300):c.4755T>C (p.Tyr1585=)
NM_001429.4(EP300):c.4756G>T (p.Ala1586Ser) rs1480723806
NM_001429.4(EP300):c.4779+16C>A
NM_001429.4(EP300):c.4780-11_4780-8del rs748277415
NM_001429.4(EP300):c.4780-12T>A
NM_001429.4(EP300):c.4780-14T>G
NM_001429.4(EP300):c.4780-21_4780-18del rs2059199595
NM_001429.4(EP300):c.4782C>T (p.Val1594=)
NM_001429.4(EP300):c.4817C>T (p.Ala1606Val)
NM_001429.4(EP300):c.4824C>G (p.Ser1608=) rs199994113
NM_001429.4(EP300):c.4828C>T (p.Pro1610Ser)
NM_001429.4(EP300):c.4845T>G (p.Pro1615=)
NM_001429.4(EP300):c.487A>G (p.Met163Val)
NM_001429.4(EP300):c.4887G>A (p.Ala1629=)
NM_001429.4(EP300):c.4971G>A (p.Glu1657=)
NM_001429.4(EP300):c.498C>T (p.Asn166=) rs2058828603
NM_001429.4(EP300):c.5007C>G (p.Thr1669=)
NM_001429.4(EP300):c.5031G>A (p.Val1677=)
NM_001429.4(EP300):c.5061+14T>C
NM_001429.4(EP300):c.5062-15C>T
NM_001429.4(EP300):c.5062-18C>T
NM_001429.4(EP300):c.5062-20A>C
NM_001429.4(EP300):c.5062-5C>T rs1601639609
NM_001429.4(EP300):c.5062-6C>T
NM_001429.4(EP300):c.5076T>C (p.Cys1692=)
NM_001429.4(EP300):c.5088T>C (p.Tyr1696=)
NM_001429.4(EP300):c.5100C>T (p.Asn1700=)
NM_001429.4(EP300):c.5122C>T (p.Leu1708=)
NM_001429.4(EP300):c.5154C>T (p.Asn1718=)
NM_001429.4(EP300):c.5169C>T (p.Ala1723=)
NM_001429.4(EP300):c.5268A>G (p.Pro1756=)
NM_001429.4(EP300):c.52C>G (p.Leu18Val)
NM_001429.4(EP300):c.5313C>T (p.Cys1771=)
NM_001429.4(EP300):c.5331C>G (p.Gly1777=)
NM_001429.4(EP300):c.5331C>T (p.Gly1777=)
NM_001429.4(EP300):c.5388C>T (p.Cys1796=)
NM_001429.4(EP300):c.5397C>T (p.Asn1799=)
NM_001429.4(EP300):c.5412G>A (p.Pro1804=)
NM_001429.4(EP300):c.5442G>A (p.Arg1814=)
NM_001429.4(EP300):c.546T>C (p.Asn182=)
NM_001429.4(EP300):c.5510G>A (p.Arg1837Gln) rs755471385
NM_001429.4(EP300):c.5526G>T (p.Gly1842=)
NM_001429.4(EP300):c.5547C>T (p.Ser1849=)
NM_001429.4(EP300):c.5550C>G (p.Pro1850=)
NM_001429.4(EP300):c.5567C>T (p.Thr1856Met)
NM_001429.4(EP300):c.5597C>T (p.Pro1866Leu)
NM_001429.4(EP300):c.5623C>T (p.Pro1875Ser)
NM_001429.4(EP300):c.5664C>G (p.Pro1888=)
NM_001429.4(EP300):c.5669C>G (p.Thr1890Ser) rs146165770
NM_001429.4(EP300):c.5669C>T (p.Thr1890Ile)
NM_001429.4(EP300):c.5674G>A (p.Ala1892Thr)
NM_001429.4(EP300):c.5682C>T (p.Gly1894=)
NM_001429.4(EP300):c.5718C>T (p.Thr1906=)
NM_001429.4(EP300):c.5796T>A (p.Ile1932=)
NM_001429.4(EP300):c.5838A>G (p.Gln1946=)
NM_001429.4(EP300):c.5854A>G (p.Ile1952Val)
NM_001429.4(EP300):c.5874G>A (p.Pro1958=)
NM_001429.4(EP300):c.5934G>A (p.Gly1978=)
NM_001429.4(EP300):c.5957C>A (p.Pro1986Gln)
NM_001429.4(EP300):c.5958G>A (p.Pro1986=)
NM_001429.4(EP300):c.596G>C (p.Gly199Ala)
NM_001429.4(EP300):c.5979A>G (p.Pro1993=)
NM_001429.4(EP300):c.6015A>G (p.Gln2005=)
NM_001429.4(EP300):c.6036G>A (p.Arg2012=)
NM_001429.4(EP300):c.6105G>A (p.Gln2035=)
NM_001429.4(EP300):c.6128C>A (p.Pro2043Gln)
NM_001429.4(EP300):c.613A>G (p.Met205Val)
NM_001429.4(EP300):c.6144A>G (p.Gln2048=)
NM_001429.4(EP300):c.6165G>A (p.Leu2055=)
NM_001429.4(EP300):c.6166C>T (p.Arg2056Trp)
NM_001429.4(EP300):c.6183C>T (p.Pro2061=) rs2059211875
NM_001429.4(EP300):c.6193C>T (p.Leu2065=)
NM_001429.4(EP300):c.6195G>A (p.Leu2065=)
NM_001429.4(EP300):c.6240G>C (p.Leu2080=)
NM_001429.4(EP300):c.6252C>T (p.Phe2084=)
NM_001429.4(EP300):c.6262C>T (p.Arg2088Trp) rs201569846
NM_001429.4(EP300):c.6279C>T (p.Ala2093=)
NM_001429.4(EP300):c.6300C>T (p.Ile2100=)
NM_001429.4(EP300):c.6398T>C (p.Met2133Thr)
NM_001429.4(EP300):c.639A>T (p.Gly213=)
NM_001429.4(EP300):c.63G>A (p.Pro21=)
NM_001429.4(EP300):c.6414G>T (p.Ala2138=) rs374679651
NM_001429.4(EP300):c.6425G>A (p.Arg2142Lys)
NM_001429.4(EP300):c.6444G>A (p.Gln2148=)
NM_001429.4(EP300):c.6468A>C (p.Pro2156=)
NM_001429.4(EP300):c.6489C>G (p.Pro2163=)
NM_001429.4(EP300):c.6494C>T (p.Ala2165Val)
NM_001429.4(EP300):c.6504G>A (p.Met2168Ile) rs566357328
NM_001429.4(EP300):c.6508A>G (p.Met2170Val)
NM_001429.4(EP300):c.6539G>A (p.Arg2180Gln)
NM_001429.4(EP300):c.6546C>A (p.Ile2182=)
NM_001429.4(EP300):c.6561A>G (p.Gln2187=)
NM_001429.4(EP300):c.6574_6585del (p.Gln2192_Gln2195del) rs875989807
NM_001429.4(EP300):c.6592G>A (p.Gly2198Arg)
NM_001429.4(EP300):c.6594G>A (p.Gly2198=)
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001429.4(EP300):c.6642C>G (p.Pro2214=)
NM_001429.4(EP300):c.6646G>A (p.Gly2216Arg)
NM_001429.4(EP300):c.6657C>T (p.Tyr2219=) rs2145521664
NM_001429.4(EP300):c.6676C>T (p.Arg2226Trp)
NM_001429.4(EP300):c.667C>G (p.Leu223Val) rs746720991
NM_001429.4(EP300):c.6681G>A (p.Met2227Ile)
NM_001429.4(EP300):c.6712A>G (p.Asn2238Asp)
NM_001429.4(EP300):c.6716T>C (p.Met2239Thr)
NM_001429.4(EP300):c.6769C>T (p.Leu2257=)
NM_001429.4(EP300):c.676G>T (p.Gly226Cys)
NM_001429.4(EP300):c.6775G>A (p.Ala2259Thr)
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001429.4(EP300):c.6801A>G (p.Gln2267=)
NM_001429.4(EP300):c.680C>T (p.Ser227Phe)
NM_001429.4(EP300):c.6820C>A (p.Gln2274Lys)
NM_001429.4(EP300):c.6840C>T (p.Pro2280=)
NM_001429.4(EP300):c.6888C>T (p.Gly2296=)
NM_001429.4(EP300):c.6907C>G (p.Leu2303Val) rs144787962
NM_001429.4(EP300):c.6914A>G (p.Asn2305Ser)
NM_001429.4(EP300):c.6920T>G (p.Val2307Gly)
NM_001429.4(EP300):c.6958T>C (p.Ser2320Pro)
NM_001429.4(EP300):c.695G>C (p.Gly232Ala) rs1261612920
NM_001429.4(EP300):c.6970C>A (p.His2324Asn)
NM_001429.4(EP300):c.6975C>T (p.Ser2325=)
NM_001429.4(EP300):c.6984C>A (p.Ser2328=) rs200478275
NM_001429.4(EP300):c.7015C>T (p.His2339Tyr)
NM_001429.4(EP300):c.7041A>G (p.Pro2347=)
NM_001429.4(EP300):c.7043A>G (p.His2348Arg)
NM_001429.4(EP300):c.706T>C (p.Leu236=)
NM_001429.4(EP300):c.7070A>G (p.Asn2357Ser) rs147304540
NM_001429.4(EP300):c.7094C>T (p.Ala2365Val)
NM_001429.4(EP300):c.7098C>T (p.Ser2366=)
NM_001429.4(EP300):c.7100C>T (p.Pro2367Leu)
NM_001429.4(EP300):c.7131T>C (p.Ala2377=)
NM_001429.4(EP300):c.7134C>T (p.Ser2378=)
NM_001429.4(EP300):c.7136A>G (p.Asn2379Ser) rs886057571
NM_001429.4(EP300):c.7158T>C (p.His2386=)
NM_001429.4(EP300):c.7163C>T (p.Ala2388Val)
NM_001429.4(EP300):c.7173G>A (p.Thr2391=)
NM_001429.4(EP300):c.7179G>A (p.Leu2393=)
NM_001429.4(EP300):c.7182A>G (p.Gly2394=)
NM_001429.4(EP300):c.7202A>G (p.Asp2401Gly)
NM_001429.4(EP300):c.7221A>G (p.Ser2407=) rs964396023
NM_001429.4(EP300):c.7230A>G (p.Thr2410=)
NM_001429.4(EP300):c.7242C>T (p.His2414=) rs1329691393
NM_001429.4(EP300):c.729+18T>G
NM_001429.4(EP300):c.729+19T>C
NM_001429.4(EP300):c.729+8C>T
NM_001429.4(EP300):c.730-10T>A
NM_001429.4(EP300):c.730-20C>T
NM_001429.4(EP300):c.730-3del
NM_001429.4(EP300):c.730-5C>T
NM_001429.4(EP300):c.730-7_730-2del rs762256767
NM_001429.4(EP300):c.757T>C (p.Tyr253His)
NM_001429.4(EP300):c.759T>C (p.Tyr253=)
NM_001429.4(EP300):c.75G>A (p.Ala25=)
NM_001429.4(EP300):c.768A>T (p.Pro256=)
NM_001429.4(EP300):c.770A>G (p.Tyr257Cys)
NM_001429.4(EP300):c.772A>G (p.Thr258Ala)
NM_001429.4(EP300):c.828A>C (p.Thr276=)
NM_001429.4(EP300):c.839T>C (p.Leu280Pro)
NM_001429.4(EP300):c.864T>C (p.Ala288=)
NM_001429.4(EP300):c.907-14G>A
NM_001429.4(EP300):c.94+10G>A
NM_001429.4(EP300):c.94+12C>T
NM_001429.4(EP300):c.94+16C>T
NM_001429.4(EP300):c.94+17C>T
NM_001429.4(EP300):c.94+18_94+19insTC
NM_001429.4(EP300):c.94+19G>A
NM_001429.4(EP300):c.95-9T>C
NM_001429.4(EP300):c.960C>T (p.Ala320=)
NM_001429.4(EP300):c.984T>C (p.His328=)
NM_001957.4(EDNRA):c.1034+19G>A rs10305924
NM_002010.3(FGF9):c.*2497del rs148832636
NM_002449.5(MSX2):c.*1086dup rs145784193
NM_002601.4(PDE6D):c.117T>A (p.Ser39=) rs2106261946
NM_002601.4(PDE6D):c.126T>G (p.Gly42=) rs2106261935
NM_002601.4(PDE6D):c.139+14C>G
NM_002601.4(PDE6D):c.139+19T>C
NM_002601.4(PDE6D):c.139+20C>G
NM_002601.4(PDE6D):c.140-15T>C
NM_002601.4(PDE6D):c.15C>T (p.Asp5=) rs2106294236
NM_002601.4(PDE6D):c.183A>G (p.Arg61=) rs2106261155
NM_002601.4(PDE6D):c.222C>T (p.Phe74=)
NM_002601.4(PDE6D):c.225C>T (p.Arg75=)
NM_002601.4(PDE6D):c.33C>T (p.Ile11=)
NM_002601.4(PDE6D):c.345C>T (p.Ser115=)
NM_002601.4(PDE6D):c.371+13G>T
NM_002601.4(PDE6D):c.372-7C>A rs2048664865
NM_002601.4(PDE6D):c.39G>A (p.Arg13=)
NM_002601.4(PDE6D):c.50+7G>T rs2106294152
NM_002601.4(PDE6D):c.51-12A>G
NM_002601.4(PDE6D):c.51-19del
NM_002601.4(PDE6D):c.67C>A (p.Arg23=)
NM_002601.4(PDE6D):c.6A>C (p.Ser2=)
NM_002734.5(PRKAR1A):c.*172_*175del rs201146882
NM_002734.5(PRKAR1A):c.*1835del rs138320066
NM_002734.5(PRKAR1A):c.*812A>C rs116996069
NM_002734.5(PRKAR1A):c.503-13dup rs138285568
NM_003036.4(SKI):c.1025A>T (p.Gln342Leu) rs377336741
NM_003036.4(SKI):c.1035G>A (p.Ala345=)
NM_003036.4(SKI):c.1041C>G (p.Ser347=)
NM_003036.4(SKI):c.1056G>A (p.Pro352=)
NM_003036.4(SKI):c.1057T>C (p.Ser353Pro)
NM_003036.4(SKI):c.1068G>T (p.Leu356=) rs1057523408
NM_003036.4(SKI):c.1095+10G>A
NM_003036.4(SKI):c.1095+11G>A
NM_003036.4(SKI):c.1095+17C>T
NM_003036.4(SKI):c.1095+19G>A
NM_003036.4(SKI):c.1095+20G>T
NM_003036.4(SKI):c.1096-15A>G
NM_003036.4(SKI):c.1096-18A>C
NM_003036.4(SKI):c.1096-4A>G
NM_003036.4(SKI):c.1101G>T (p.Leu367=) rs1411024116
NM_003036.4(SKI):c.1104C>T (p.Gly368=)
NM_003036.4(SKI):c.111T>C (p.Ala37=) rs2100789581
NM_003036.4(SKI):c.1125C>A (p.Arg375=)
NM_003036.4(SKI):c.1128C>A (p.Leu376=)
NM_003036.4(SKI):c.1149C>G (p.Ser383=)
NM_003036.4(SKI):c.1152C>G (p.Pro384=) rs200160702
NM_003036.4(SKI):c.117G>C (p.Ser39=)
NM_003036.4(SKI):c.1185A>G (p.Pro395=)
NM_003036.4(SKI):c.1194G>A (p.Pro398=)
NM_003036.4(SKI):c.1200C>G (p.Leu400=)
NM_003036.4(SKI):c.1205G>A (p.Arg402Gln) rs557289756
NM_003036.4(SKI):c.1211+7G>A
NM_003036.4(SKI):c.1211+7G>C
NM_003036.4(SKI):c.1211+8G>C rs1411361590
NM_003036.4(SKI):c.1211+9G>T
NM_003036.4(SKI):c.1211+9dup
NM_003036.4(SKI):c.1212-11T>C
NM_003036.4(SKI):c.1212-16C>T
NM_003036.4(SKI):c.1212-6C>T rs752765206
NM_003036.4(SKI):c.1212-7C>T
NM_003036.4(SKI):c.1230C>T (p.Ser410=)
NM_003036.4(SKI):c.123C>G (p.Arg41=) rs1233566903
NM_003036.4(SKI):c.123C>T (p.Arg41=)
NM_003036.4(SKI):c.1248G>A (p.Ala416=) rs768317594
NM_003036.4(SKI):c.1248G>T (p.Ala416=)
NM_003036.4(SKI):c.1274C>T (p.Ala425Val)
NM_003036.4(SKI):c.1293C>T (p.Ser431=) rs2100918389
NM_003036.4(SKI):c.1308C>A (p.Ala436=)
NM_003036.4(SKI):c.1308C>G (p.Ala436=) rs139034124
NM_003036.4(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_003036.4(SKI):c.1325C>T (p.Ala442Val)
NM_003036.4(SKI):c.1326C>T (p.Ala442=)
NM_003036.4(SKI):c.1350C>T (p.Thr450=)
NM_003036.4(SKI):c.138C>G (p.Ala46=) rs745527890
NM_003036.4(SKI):c.1393C>G (p.Pro465Ala)
NM_003036.4(SKI):c.1401G>A (p.Thr467=)
NM_003036.4(SKI):c.1410C>A (p.Pro470=)
NM_003036.4(SKI):c.1419C>T (p.Ala473=) rs748183781
NM_003036.4(SKI):c.1428G>A (p.Glu476=)
NM_003036.4(SKI):c.1449G>A (p.Glu483=)
NM_003036.4(SKI):c.144G>A (p.Lys48=)
NM_003036.4(SKI):c.1466G>A (p.Arg489Lys)
NM_003036.4(SKI):c.1474+14G>A rs780072344
NM_003036.4(SKI):c.1474+19C>G rs2100919153
NM_003036.4(SKI):c.1474+7del rs1640502180
NM_003036.4(SKI):c.1475-17C>T
NM_003036.4(SKI):c.1479C>T (p.Thr493=) rs754922214
NM_003036.4(SKI):c.1482C>T (p.Ser494=)
NM_003036.4(SKI):c.1509C>G (p.Ser503=) rs1338756413
NM_003036.4(SKI):c.1514C>T (p.Thr505Ile)
NM_003036.4(SKI):c.1528G>T (p.Ala510Ser)
NM_003036.4(SKI):c.1536C>T (p.Asp512=)
NM_003036.4(SKI):c.1539G>T (p.Leu513=)
NM_003036.4(SKI):c.1557T>C (p.Arg519=)
NM_003036.4(SKI):c.1560C>G (p.Ala520=)
NM_003036.4(SKI):c.1561C>T (p.Leu521=)
NM_003036.4(SKI):c.1566C>G (p.Pro522=)
NM_003036.4(SKI):c.1569G>C (p.Ser523=) rs767052019
NM_003036.4(SKI):c.156C>T (p.Ala52=)
NM_003036.4(SKI):c.1582G>C (p.Ala528Pro)
NM_003036.4(SKI):c.1586C>T (p.Ala529Val)
NM_003036.4(SKI):c.1587G>C (p.Ala529=) rs542301067
NM_003036.4(SKI):c.1601C>T (p.Ala534Val)
NM_003036.4(SKI):c.1602C>G (p.Ala534=)
NM_003036.4(SKI):c.1647G>C (p.Leu549=)
NM_003036.4(SKI):c.1653C>T (p.Gly551=)
NM_003036.4(SKI):c.1677A>G (p.Lys559=) rs1569862103
NM_003036.4(SKI):c.1686C>T (p.Phe562=)
NM_003036.4(SKI):c.1687C>T (p.Leu563=) rs868545143
NM_003036.4(SKI):c.1710C>A (p.Arg570=)
NM_003036.4(SKI):c.1715A>G (p.Lys572Arg)
NM_003036.4(SKI):c.1728G>A (p.Lys576=)
NM_003036.4(SKI):c.1767+19G>A
NM_003036.4(SKI):c.1767+19G>T
NM_003036.4(SKI):c.1767+8G>A rs755258323
NM_003036.4(SKI):c.1768-10C>T
NM_003036.4(SKI):c.1768-20G>T rs375518657
NM_003036.4(SKI):c.1768-4C>G
NM_003036.4(SKI):c.1768-8G>T
NM_003036.4(SKI):c.1779C>T (p.Phe593=)
NM_003036.4(SKI):c.1785C>G (p.Arg595=)
NM_003036.4(SKI):c.1818G>A (p.Thr606=) rs377110260
NM_003036.4(SKI):c.1827G>A (p.Lys609=) rs1324710541
NM_003036.4(SKI):c.183G>C (p.Pro61=) rs774187595
NM_003036.4(SKI):c.183G>T (p.Pro61=)
NM_003036.4(SKI):c.1848C>A (p.Ile616=) rs1044806468
NM_003036.4(SKI):c.1863C>G (p.Ala621=)
NM_003036.4(SKI):c.1863C>T (p.Ala621=) rs200702159
NM_003036.4(SKI):c.1869C>T (p.Asn623=)
NM_003036.4(SKI):c.1887G>A (p.Glu629=) rs771953750
NM_003036.4(SKI):c.1890C>A (p.Ala630=) rs773151547
NM_003036.4(SKI):c.1890C>T (p.Ala630=) rs773151547
NM_003036.4(SKI):c.189G>A (p.Pro63=)
NM_003036.4(SKI):c.1911G>A (p.Leu637=)
NM_003036.4(SKI):c.1913A>G (p.Lys638Arg)
NM_003036.4(SKI):c.1923G>T (p.Leu641=) rs199666240
NM_003036.4(SKI):c.1932G>A (p.Ala644=) rs1057521646
NM_003036.4(SKI):c.1942C>A (p.Arg648=)
NM_003036.4(SKI):c.1944G>A (p.Arg648=)
NM_003036.4(SKI):c.1950C>T (p.Cys650=)
NM_003036.4(SKI):c.1965G>A (p.Glu655=) rs1475570086
NM_003036.4(SKI):c.1968G>A (p.Ala656=)
NM_003036.4(SKI):c.1971C>T (p.Gly657=) rs878854598
NM_003036.4(SKI):c.1977G>A (p.Leu659=) rs1298626276
NM_003036.4(SKI):c.1981G>A (p.Ala661Thr)
NM_003036.4(SKI):c.1983C>T (p.Ala661=) rs973734662
NM_003036.4(SKI):c.1992G>A (p.Ser664=)
NM_003036.4(SKI):c.1998+10T>C
NM_003036.4(SKI):c.1999-12G>T
NM_003036.4(SKI):c.1999-14C>G
NM_003036.4(SKI):c.1999-14C>T
NM_003036.4(SKI):c.1999-17A>T
NM_003036.4(SKI):c.1999-7C>T
NM_003036.4(SKI):c.1999-9C>G rs369496789
NM_003036.4(SKI):c.2007C>G (p.Asp669Glu) rs750838146
NM_003036.4(SKI):c.2007C>T (p.Asp669=) rs750838146
NM_003036.4(SKI):c.200C>T (p.Ala67Val)
NM_003036.4(SKI):c.2019G>A (p.Lys673=)
NM_003036.4(SKI):c.2037G>C (p.Ala679=)
NM_003036.4(SKI):c.2043G>C (p.Arg681=) rs2100925770
NM_003036.4(SKI):c.2061C>T (p.Asp687=)
NM_003036.4(SKI):c.2067G>A (p.Leu689=)
NM_003036.4(SKI):c.2069G>A (p.Arg690Gln)
NM_003036.4(SKI):c.2076C>T (p.Arg692=)
NM_003036.4(SKI):c.207G>A (p.Glu69=)
NM_003036.4(SKI):c.2082C>T (p.Ala694=)
NM_003036.4(SKI):c.2091C>T (p.His697=) rs1487847272
NM_003036.4(SKI):c.2103G>A (p.Val701=)
NM_003036.4(SKI):c.2109G>A (p.Lys703=)
NM_003036.4(SKI):c.2112_2113delinsAT (p.Glu704_Leu705=) rs2100925995
NM_003036.4(SKI):c.2136G>A (p.Arg712=)
NM_003036.4(SKI):c.2139C>T (p.Ala713=)
NM_003036.4(SKI):c.2142C>T (p.Arg714=) rs1569868248
NM_003036.4(SKI):c.2145C>T (p.Pro715=)
NM_003036.4(SKI):c.2153C>T (p.Ala718Val)
NM_003036.4(SKI):c.2166C>T (p.Gly722=)
NM_003036.4(SKI):c.2169T>G (p.Ala723=)
NM_003036.4(SKI):c.2172G>C (p.Ala724=) rs879070309
NM_003036.4(SKI):c.2175G>A (p.Glu725=) rs1381348497
NM_003036.4(SKI):c.2178G>A (p.Leu726=)
NM_003036.4(SKI):c.2181G>A (p.Glu727=)
NM_003036.4(SKI):c.2184G>A (p.Pro728=)
NM_003036.4(SKI):c.225C>T (p.His75=) rs1553189880
NM_003036.4(SKI):c.228G>A (p.Leu76=) rs1297091418
NM_003036.4(SKI):c.231C>T (p.Pro77=) rs1638568541
NM_003036.4(SKI):c.237C>G (p.Ile79Met)
NM_003036.4(SKI):c.249G>A (p.Pro83=)
NM_003036.4(SKI):c.258G>T (p.Leu86=) rs780679449
NM_003036.4(SKI):c.261C>A (p.Pro87=) rs1257107710
NM_003036.4(SKI):c.261C>T (p.Pro87=)
NM_003036.4(SKI):c.267C>T (p.Pro89=)
NM_003036.4(SKI):c.270C>T (p.Phe90=) rs1436770788
NM_003036.4(SKI):c.279G>A (p.Pro93=) rs1638570161
NM_003036.4(SKI):c.27C>A (p.Gly9=) rs1476360335
NM_003036.4(SKI):c.282C>G (p.Ser94=)
NM_003036.4(SKI):c.312A>G (p.Val104=) rs368195821
NM_003036.4(SKI):c.313C>T (p.Leu105=)
NM_003036.4(SKI):c.318A>G (p.Glu106=) rs564817940
NM_003036.4(SKI):c.333G>A (p.Ser111=)
NM_003036.4(SKI):c.342G>T (p.Val114=) rs1057523880
NM_003036.4(SKI):c.351C>T (p.Gly117=) rs781703488
NM_003036.4(SKI):c.360C>A (p.Arg120=)
NM_003036.4(SKI):c.381C>T (p.Leu127=) rs371497152
NM_003036.4(SKI):c.399C>T (p.Asp133=) rs937379586
NM_003036.4(SKI):c.405_406delinsTT (p.Ser135_Leu136=) rs2100790167
NM_003036.4(SKI):c.417C>A (p.Ile139=) rs144874401
NM_003036.4(SKI):c.420C>T (p.Asn140=) rs1013962872
NM_003036.4(SKI):c.423G>A (p.Ala141=)
NM_003036.4(SKI):c.423G>C (p.Ala141=)
NM_003036.4(SKI):c.444C>T (p.Ile148=) rs1391345174
NM_003036.4(SKI):c.453G>A (p.Ser151=)
NM_003036.4(SKI):c.453G>T (p.Ser151=)
NM_003036.4(SKI):c.459C>T (p.Cys153=) rs1638575263
NM_003036.4(SKI):c.468C>T (p.Asp156=)
NM_003036.4(SKI):c.483C>G (p.Leu161=)
NM_003036.4(SKI):c.486A>C (p.Lys162Asn)
NM_003036.4(SKI):c.489C>T (p.Val163=) rs373291824
NM_003036.4(SKI):c.48G>A (p.Gly16=)
NM_003036.4(SKI):c.49C>T (p.Leu17=)
NM_003036.4(SKI):c.513G>T (p.Ala171=)
NM_003036.4(SKI):c.516C>G (p.Pro172=) rs182513685
NM_003036.4(SKI):c.51G>A (p.Leu17=) rs763997001
NM_003036.4(SKI):c.522C>T (p.Cys174=)
NM_003036.4(SKI):c.525G>A (p.Gly175=)
NM_003036.4(SKI):c.525G>T (p.Gly175=)
NM_003036.4(SKI):c.528C>T (p.Leu176=)
NM_003036.4(SKI):c.531C>T (p.Ile177=) rs1286351303
NM_003036.4(SKI):c.540G>C (p.Thr180=)
NM_003036.4(SKI):c.565C>T (p.Leu189=)
NM_003036.4(SKI):c.570C>T (p.Leu190=) rs1253539827
NM_003036.4(SKI):c.576C>T (p.Gly192=)
NM_003036.4(SKI):c.57G>A (p.Lys19=)
NM_003036.4(SKI):c.581C>A (p.Ala194Asp) rs746882046
NM_003036.4(SKI):c.584A>T (p.Tyr195Phe) rs1474048036
NM_003036.4(SKI):c.585C>T (p.Tyr195=)
NM_003036.4(SKI):c.612C>T (p.Ala204=) rs2100790564
NM_003036.4(SKI):c.631C>T (p.Leu211=)
NM_003036.4(SKI):c.636G>A (p.Glu212=) rs1461255065
NM_003036.4(SKI):c.654C>T (p.Val218=)
NM_003036.4(SKI):c.657C>T (p.Arg219=)
NM_003036.4(SKI):c.672C>T (p.Cys224=)
NM_003036.4(SKI):c.678C>A (p.Gly226=)
NM_003036.4(SKI):c.714C>T (p.Ser238=) rs1569660010
NM_003036.4(SKI):c.717C>T (p.Ser239=)
NM_003036.4(SKI):c.720G>A (p.Pro240=) rs1569660069
NM_003036.4(SKI):c.729C>T (p.Ala243=)
NM_003036.4(SKI):c.742C>T (p.Leu248=)
NM_003036.4(SKI):c.765G>C (p.Pro255=)
NM_003036.4(SKI):c.768G>A (p.Pro256=) rs1057521232
NM_003036.4(SKI):c.768G>T (p.Pro256=)
NM_003036.4(SKI):c.76C>T (p.Leu26=)
NM_003036.4(SKI):c.777C>T (p.Phe259=) rs2100790901
NM_003036.4(SKI):c.780G>A (p.Val260=)
NM_003036.4(SKI):c.786C>T (p.His262=)
NM_003036.4(SKI):c.789G>C (p.Ser263=)
NM_003036.4(SKI):c.789G>T (p.Ser263=)
NM_003036.4(SKI):c.816C>T (p.Cys272=)
NM_003036.4(SKI):c.828C>T (p.Phe276=)
NM_003036.4(SKI):c.840C>T (p.Asn280=) rs1423154745
NM_003036.4(SKI):c.846G>T (p.Arg282=)
NM_003036.4(SKI):c.84C>T (p.Ser28=)
NM_003036.4(SKI):c.858G>A (p.Leu286=)
NM_003036.4(SKI):c.867G>A (p.Gln289=)
NM_003036.4(SKI):c.882G>A (p.Lys294=)
NM_003036.4(SKI):c.903C>T (p.Gly301=)
NM_003036.4(SKI):c.915C>T (p.Asp305=) rs900879745
NM_003036.4(SKI):c.921G>A (p.Val307=)
NM_003036.4(SKI):c.924G>A (p.Lys308=)
NM_003036.4(SKI):c.93G>T (p.Ser31=)
NM_003036.4(SKI):c.951C>T (p.Tyr317=)
NM_003036.4(SKI):c.963G>T (p.Val321=)
NM_003036.4(SKI):c.969+10C>T
NM_003036.4(SKI):c.970-13dup
NM_003036.4(SKI):c.970-19A>G
NM_003036.4(SKI):c.970-4G>A
NM_003036.4(SKI):c.987G>C (p.Pro329=)
NM_003036.4(SKI):c.99C>T (p.Gly33=)
NM_003036.4(SKI):c.9G>C (p.Ala3=)
NM_003611.3(OFD1):c.112-4C>G rs1006144968
NM_003611.3(OFD1):c.1804C>T (p.Arg602Cys)
NM_003611.3(OFD1):c.216C>A (p.Gly72=) rs369907022
NM_003611.3(OFD1):c.216C>T (p.Gly72=)
NM_003611.3(OFD1):c.2488+14_2488+19del rs781190242
NM_003611.3(OFD1):c.2996+16AC[2] rs761270089
NM_003611.3(OFD1):c.517+13_517+14delinsGC rs2146959704
NM_003722.5(TP63):c.*2719_*2720del rs574327104
NM_003722.5(TP63):c.1350-6315C>A rs1577182394
NM_003722.5(TP63):c.1661C>T (p.Ala554Val)
NM_003722.5(TP63):c.192-9_192-8del rs794727498
NM_003722.5(TP63):c.20G>T (p.Arg7Leu) rs568702479
NM_003722.5(TP63):c.325-18543_325-18542insAGAG rs34201045
NM_003722.5(TP63):c.475C>T (p.Leu159Phe) rs752603187
NM_003846.3(PEX11B):c.338G>A (p.Arg113His)
NM_004247.4(EFTUD2):c.2389G>T (p.Ala797Ser)
NM_004260.4(RECQL4):c.1002G>A (p.Glu334=)
NM_004260.4(RECQL4):c.1005C>G (p.Gly335=)
NM_004260.4(RECQL4):c.1005C>T (p.Gly335=) rs1814908636
NM_004260.4(RECQL4):c.1011C>A (p.Ala337=) rs759971028
NM_004260.4(RECQL4):c.1011C>T (p.Ala337=) rs759971028
NM_004260.4(RECQL4):c.1014C>A (p.Pro338=) rs373657692
NM_004260.4(RECQL4):c.1015C>T (p.Leu339=) rs1238794881
NM_004260.4(RECQL4):c.1017G>A (p.Leu339=) rs1814901296
NM_004260.4(RECQL4):c.1032G>A (p.Arg344=) rs1449922805
NM_004260.4(RECQL4):c.1038C>T (p.Ala346=) rs1814890207
NM_004260.4(RECQL4):c.1050G>A (p.Arg350=) rs2130717046
NM_004260.4(RECQL4):c.1053C>G (p.Gly351=)
NM_004260.4(RECQL4):c.105G>C (p.Pro35=)
NM_004260.4(RECQL4):c.1063C>A (p.Arg355=) rs368601097
NM_004260.4(RECQL4):c.1065G>C (p.Arg355=) rs1586821344
NM_004260.4(RECQL4):c.1065G>T (p.Arg355=) rs1586821344
NM_004260.4(RECQL4):c.1068C>T (p.Leu356=) rs1333756453
NM_004260.4(RECQL4):c.1077G>A (p.Lys359=)
NM_004260.4(RECQL4):c.1089C>T (p.Tyr363=) rs377589237
NM_004260.4(RECQL4):c.108G>A (p.Glu36=)
NM_004260.4(RECQL4):c.1092G>A (p.Val364=) rs1292950539
NM_004260.4(RECQL4):c.1092G>C (p.Val364=) rs1292950539
NM_004260.4(RECQL4):c.1095G>A (p.Arg365=) rs2130716004
NM_004260.4(RECQL4):c.1099C>A (p.Arg367=)
NM_004260.4(RECQL4):c.1101G>A (p.Arg367=)
NM_004260.4(RECQL4):c.1101G>C (p.Arg367=)
NM_004260.4(RECQL4):c.1107C>T (p.Leu369=) rs773121187
NM_004260.4(RECQL4):c.1110T>A (p.Arg370=)
NM_004260.4(RECQL4):c.1110T>C (p.Arg370=) rs560961607
NM_004260.4(RECQL4):c.1116G>A (p.Arg372=) rs779492418
NM_004260.4(RECQL4):c.1119C>T (p.Leu373=)
NM_004260.4(RECQL4):c.1122C>T (p.Leu374=) rs1169953082
NM_004260.4(RECQL4):c.1125C>G (p.Arg375=) rs560231629
NM_004260.4(RECQL4):c.1125C>T (p.Arg375=) rs560231629
NM_004260.4(RECQL4):c.1131+10C>T rs545222870
NM_004260.4(RECQL4):c.1131+11G>A rs369167534
NM_004260.4(RECQL4):c.1131+11G>C rs369167534
NM_004260.4(RECQL4):c.1131+13C>T
NM_004260.4(RECQL4):c.1131+14G>C
NM_004260.4(RECQL4):c.1131+14_1131+23del
NM_004260.4(RECQL4):c.1131+15G>A rs1828119581
NM_004260.4(RECQL4):c.1131+15G>C
NM_004260.4(RECQL4):c.1131+16G>A
NM_004260.4(RECQL4):c.1131+16G>C rs1330763105
NM_004260.4(RECQL4):c.1131+16G>T rs1330763105
NM_004260.4(RECQL4):c.1131+17C>T rs2130714925
NM_004260.4(RECQL4):c.1131+18C>T rs1466282272
NM_004260.4(RECQL4):c.1131+20G>A
NM_004260.4(RECQL4):c.1131+7C>T rs1586820647
NM_004260.4(RECQL4):c.1131+8A>C rs932213064
NM_004260.4(RECQL4):c.1131+9_1131+12dup rs1564804916
NM_004260.4(RECQL4):c.1132-10C>A
NM_004260.4(RECQL4):c.1132-16T>C rs1349861607
NM_004260.4(RECQL4):c.1132-19C>A
NM_004260.4(RECQL4):c.1132-20C>G rs375444239
NM_004260.4(RECQL4):c.1132-5C>T rs756159792
NM_004260.4(RECQL4):c.1132-6C>T rs2130713970
NM_004260.4(RECQL4):c.1132-8C>T rs370660188
NM_004260.4(RECQL4):c.1132-9A>G rs1240937063
NM_004260.4(RECQL4):c.1146G>A (p.Lys382=)
NM_004260.4(RECQL4):c.114C>G (p.Thr38=) rs948891282
NM_004260.4(RECQL4):c.114C>T (p.Thr38=) rs948891282
NM_004260.4(RECQL4):c.1150C>A (p.Arg384=) rs766026341
NM_004260.4(RECQL4):c.1152G>A (p.Arg384=) rs1586819812
NM_004260.4(RECQL4):c.1152G>C (p.Arg384=)
NM_004260.4(RECQL4):c.1158A>G (p.Lys386=)
NM_004260.4(RECQL4):c.1161G>A (p.Gly387=) rs2130713520
NM_004260.4(RECQL4):c.118+13C>G
NM_004260.4(RECQL4):c.118+13C>T
NM_004260.4(RECQL4):c.118+13_118+14insGCGGCTGG
NM_004260.4(RECQL4):c.118+17G>A rs2130743239
NM_004260.4(RECQL4):c.118+17_118+18delinsAG
NM_004260.4(RECQL4):c.118+18C>T
NM_004260.4(RECQL4):c.118+18_118+25del
NM_004260.4(RECQL4):c.118+7G>A
NM_004260.4(RECQL4):c.1182T>A (p.Gly394=)
NM_004260.4(RECQL4):c.1182T>C (p.Gly394=)
NM_004260.4(RECQL4):c.1185C>G (p.Ala395=) rs539629689
NM_004260.4(RECQL4):c.119-11C>T rs1278855232
NM_004260.4(RECQL4):c.119-14G>A
NM_004260.4(RECQL4):c.119-15C>G rs764923707
NM_004260.4(RECQL4):c.119-15C>T
NM_004260.4(RECQL4):c.119-16C>G rs1355840127
NM_004260.4(RECQL4):c.119-16C>T rs1355840127
NM_004260.4(RECQL4):c.119-17C>A rs762801950
NM_004260.4(RECQL4):c.119-17C>G rs762801950
NM_004260.4(RECQL4):c.119-19C>T
NM_004260.4(RECQL4):c.119-20C>A
NM_004260.4(RECQL4):c.119-20C>T
NM_004260.4(RECQL4):c.119-4G>A rs1297467065
NM_004260.4(RECQL4):c.119-4G>T rs1297467065
NM_004260.4(RECQL4):c.119-5C>T
NM_004260.4(RECQL4):c.119-7C>T rs2130741953
NM_004260.4(RECQL4):c.119-9C>T rs2130741988
NM_004260.4(RECQL4):c.1191C>T (p.Val397=) rs958341367
NM_004260.4(RECQL4):c.1197C>T (p.Thr399=)
NM_004260.4(RECQL4):c.1203G>A (p.Glu401=) rs1246094808
NM_004260.4(RECQL4):c.1206T>G (p.Ser402=) rs2130712785
NM_004260.4(RECQL4):c.120G>A (p.Ala40=)
NM_004260.4(RECQL4):c.120G>T (p.Ala40=)
NM_004260.4(RECQL4):c.1212C>T (p.Phe404=) rs766079419
NM_004260.4(RECQL4):c.1224G>A (p.Gln408=) rs2130712511
NM_004260.4(RECQL4):c.1233C>T (p.His411=) rs549438457
NM_004260.4(RECQL4):c.1245G>A (p.Gln415=) rs1248474086
NM_004260.4(RECQL4):c.1252C>A (p.Arg418=)
NM_004260.4(RECQL4):c.1254G>C (p.Arg418=) rs757279290
NM_004260.4(RECQL4):c.1258+10C>T rs1554901592
NM_004260.4(RECQL4):c.1258+11T>C rs1377154596
NM_004260.4(RECQL4):c.1258+12G>A
NM_004260.4(RECQL4):c.1258+14C>T rs1332899412
NM_004260.4(RECQL4):c.1258+18G>C
NM_004260.4(RECQL4):c.1258+20G>A rs34689258
NM_004260.4(RECQL4):c.1258+7C>T rs2130711838
NM_004260.4(RECQL4):c.1258+8A>G rs1554901599
NM_004260.4(RECQL4):c.1259-14C>G
NM_004260.4(RECQL4):c.1259-14C>T rs772263907
NM_004260.4(RECQL4):c.1259-16C>T rs2130709290
NM_004260.4(RECQL4):c.1259-4C>G rs756804943
NM_004260.4(RECQL4):c.1259-4C>T rs756804943
NM_004260.4(RECQL4):c.1259-7G>A rs1828021212
NM_004260.4(RECQL4):c.1259-9C>T rs1586817767
NM_004260.4(RECQL4):c.1266G>A (p.Glu422=) rs2130709010
NM_004260.4(RECQL4):c.1269A>G (p.Glu423=) rs2130708978
NM_004260.4(RECQL4):c.126C>T (p.Tyr42=) rs1427556033
NM_004260.4(RECQL4):c.1272C>T (p.Asp424=)
NM_004260.4(RECQL4):c.1278T>C (p.Asp426=) rs2130708837
NM_004260.4(RECQL4):c.127C>A (p.Arg43=)
NM_004260.4(RECQL4):c.1281T>C (p.Ala427=) rs1828017595
NM_004260.4(RECQL4):c.1290T>C (p.Pro430=)
NM_004260.4(RECQL4):c.1293G>A (p.Glu431=) rs1586817551
NM_004260.4(RECQL4):c.1299G>C (p.Leu433=)
NM_004260.4(RECQL4):c.129G>A (p.Arg43=)
NM_004260.4(RECQL4):c.1305T>A (p.Pro435=) rs1390022569
NM_004260.4(RECQL4):c.1305T>C (p.Pro435=) rs1390022569
NM_004260.4(RECQL4):c.1311A>C (p.Pro437=) rs2130708452
NM_004260.4(RECQL4):c.1320A>T (p.Val440=)
NM_004260.4(RECQL4):c.1329G>A (p.Val443=)
NM_004260.4(RECQL4):c.1329G>C (p.Val443=)
NM_004260.4(RECQL4):c.1341C>T (p.Asp447=) rs2130708176
NM_004260.4(RECQL4):c.1344C>T (p.Pro448=)
NM_004260.4(RECQL4):c.135C>T (p.Tyr45=) rs1586833765
NM_004260.4(RECQL4):c.1366C>T (p.Leu456=) rs2130707796
NM_004260.4(RECQL4):c.1371G>A (p.Gly457=)
NM_004260.4(RECQL4):c.1374C>T (p.Pro458=)
NM_004260.4(RECQL4):c.1377A>G (p.Ser459=) rs2130707634
NM_004260.4(RECQL4):c.1383G>A (p.Gln461=) rs1395093722
NM_004260.4(RECQL4):c.1386G>A (p.Leu462=)
NM_004260.4(RECQL4):c.1390+14T>C rs1483677181
NM_004260.4(RECQL4):c.1390+17T>A
NM_004260.4(RECQL4):c.1390+19G>A
NM_004260.4(RECQL4):c.1390+19G>T
NM_004260.4(RECQL4):c.1390+20C>G
NM_004260.4(RECQL4):c.1391-10G>C
NM_004260.4(RECQL4):c.1391-10G>T
NM_004260.4(RECQL4):c.1391-12C>A
NM_004260.4(RECQL4):c.1391-12C>G
NM_004260.4(RECQL4):c.1391-12_1391-11del rs556942149
NM_004260.4(RECQL4):c.1391-13T>G
NM_004260.4(RECQL4):c.1391-14A>G
NM_004260.4(RECQL4):c.1391-17A>C rs2130706816
NM_004260.4(RECQL4):c.1391-17A>G
NM_004260.4(RECQL4):c.1391-19T>C
NM_004260.4(RECQL4):c.1391-4G>A
NM_004260.4(RECQL4):c.1391-8G>A rs1827990814
NM_004260.4(RECQL4):c.1392G>A (p.Glu464=) rs996941890
NM_004260.4(RECQL4):c.1398G>C (p.Pro466=) rs145615931
NM_004260.4(RECQL4):c.1410C>T (p.Phe470=) rs2130706358
NM_004260.4(RECQL4):c.1416C>T (p.Ala472=) rs2130706257
NM_004260.4(RECQL4):c.1417C>T (p.Leu473=) rs587778654
NM_004260.4(RECQL4):c.141T>C (p.Thr47=) rs768881967
NM_004260.4(RECQL4):c.1425G>A (p.Gln475=) rs1263862786
NM_004260.4(RECQL4):c.1431G>A (p.Gly477=)
NM_004260.4(RECQL4):c.1446C>T (p.Arg482=) rs1279339947
NM_004260.4(RECQL4):c.1458G>A (p.Glu486=) rs1060504211
NM_004260.4(RECQL4):c.1464A>G (p.Ala488=) rs557734785
NM_004260.4(RECQL4):c.1479G>A (p.Leu493=)
NM_004260.4(RECQL4):c.147G>A (p.Lys49=) rs1815360727
NM_004260.4(RECQL4):c.1483+10G>C rs1827967891
NM_004260.4(RECQL4):c.1483+11C>T
NM_004260.4(RECQL4):c.1483+14C>T
NM_004260.4(RECQL4):c.1483+15C>A
NM_004260.4(RECQL4):c.1483+16A>G
NM_004260.4(RECQL4):c.1483+17G>A
NM_004260.4(RECQL4):c.1483+18G>A
NM_004260.4(RECQL4):c.1483+20C>T
NM_004260.4(RECQL4):c.1483+7G>C rs373192242
NM_004260.4(RECQL4):c.1483+9G>A
NM_004260.4(RECQL4):c.1484-11G>A rs376242705
NM_004260.4(RECQL4):c.1484-11G>C rs376242705
NM_004260.4(RECQL4):c.1484-13C>A
NM_004260.4(RECQL4):c.1484-13C>T
NM_004260.4(RECQL4):c.1484-14C>G
NM_004260.4(RECQL4):c.1484-14C>T rs1457491900
NM_004260.4(RECQL4):c.1484-16C>T
NM_004260.4(RECQL4):c.1484-20C>A
NM_004260.4(RECQL4):c.1484-20C>T
NM_004260.4(RECQL4):c.1484-4C>G rs777310447
NM_004260.4(RECQL4):c.1484-7C>T rs2130704577
NM_004260.4(RECQL4):c.1484-8C>A rs1235697567
NM_004260.4(RECQL4):c.1484-9C>G
NM_004260.4(RECQL4):c.1484-9C>T rs1278596077
NM_004260.4(RECQL4):c.1488C>T (p.Ile496=) rs1358382637
NM_004260.4(RECQL4):c.1491C>A (p.Ser497=)
NM_004260.4(RECQL4):c.1491C>T (p.Ser497=) rs369306389
NM_004260.4(RECQL4):c.1494G>A (p.Thr498=) rs557281237
NM_004260.4(RECQL4):c.1494G>C (p.Thr498=) rs557281237
NM_004260.4(RECQL4):c.1494G>T (p.Thr498=) rs557281237
NM_004260.4(RECQL4):c.1497G>T (p.Leu499=) rs749324210
NM_004260.4(RECQL4):c.1506G>A (p.Leu502=)
NM_004260.4(RECQL4):c.1512A>G (p.Thr504=) rs1586815342
NM_004260.4(RECQL4):c.1518C>A (p.Ala506=) rs757280460
NM_004260.4(RECQL4):c.1518C>G (p.Ala506=) rs757280460
NM_004260.4(RECQL4):c.1521C>G (p.Gly507=) rs763993982
NM_004260.4(RECQL4):c.1530G>A (p.Leu510=)
NM_004260.4(RECQL4):c.1533C>T (p.Cys511=) rs764945119
NM_004260.4(RECQL4):c.1536C>T (p.Tyr512=)
NM_004260.4(RECQL4):c.153C>T (p.Thr51=)
NM_004260.4(RECQL4):c.1542C>A (p.Leu514=)
NM_004260.4(RECQL4):c.1542C>G (p.Leu514=)
NM_004260.4(RECQL4):c.1545A>G (p.Pro515=) rs773560213
NM_004260.4(RECQL4):c.1548G>C (p.Ala516=)
NM_004260.4(RECQL4):c.1549C>T (p.Leu517=)
NM_004260.4(RECQL4):c.1551G>A (p.Leu517=)
NM_004260.4(RECQL4):c.1554C>G (p.Leu518=)
NM_004260.4(RECQL4):c.1563G>A (p.Arg521=)
NM_004260.4(RECQL4):c.1569C>T (p.Ser523=) rs1586814779
NM_004260.4(RECQL4):c.156G>A (p.Thr52=) rs1399978369
NM_004260.4(RECQL4):c.156G>C (p.Thr52=) rs1399978369
NM_004260.4(RECQL4):c.1572C>A (p.Pro524=)
NM_004260.4(RECQL4):c.1572C>G (p.Pro524=)
NM_004260.4(RECQL4):c.1582T>C (p.Leu528=) rs1586814566
NM_004260.4(RECQL4):c.1587C>G (p.Val529=) rs767967343
NM_004260.4(RECQL4):c.1593T>C (p.Ser531=) rs1273482820
NM_004260.4(RECQL4):c.15G>A (p.Arg5=) rs1385976283
NM_004260.4(RECQL4):c.1602G>A (p.Leu534=)
NM_004260.4(RECQL4):c.1608C>A (p.Leu536=) rs772078220
NM_004260.4(RECQL4):c.1614T>C (p.Asp538=) rs563786469
NM_004260.4(RECQL4):c.1620+10C>T
NM_004260.4(RECQL4):c.1620+12G>A
NM_004260.4(RECQL4):c.1620+15C>A rs762377220
NM_004260.4(RECQL4):c.1620+16C>A
NM_004260.4(RECQL4):c.1620+19G>A
NM_004260.4(RECQL4):c.1620+19G>C
NM_004260.4(RECQL4):c.1620+19G>T
NM_004260.4(RECQL4):c.1620+20G>A
NM_004260.4(RECQL4):c.1620+20G>T
NM_004260.4(RECQL4):c.1620+5_1620+6dup rs1554900517
NM_004260.4(RECQL4):c.1620+9del rs1586814252
NM_004260.4(RECQL4):c.1621-11T>C
NM_004260.4(RECQL4):c.1621-11T>G rs1827867296
NM_004260.4(RECQL4):c.1621-12C>T rs376436364
NM_004260.4(RECQL4):c.1621-13C>A
NM_004260.4(RECQL4):c.1621-13C>T
NM_004260.4(RECQL4):c.1621-15C>G
NM_004260.4(RECQL4):c.1621-16_1621-15delinsAT rs2130699243
NM_004260.4(RECQL4):c.1621-17C>G rs769603253
NM_004260.4(RECQL4):c.1621-19G>C
NM_004260.4(RECQL4):c.1621-20T>C
NM_004260.4(RECQL4):c.1621-4G>A rs765558442
NM_004260.4(RECQL4):c.1621-4G>T rs765558442
NM_004260.4(RECQL4):c.1621-6T>A rs2130699137
NM_004260.4(RECQL4):c.1626T>G (p.Ser542=) rs754134346
NM_004260.4(RECQL4):c.1629C>T (p.Gly543=)
NM_004260.4(RECQL4):c.162G>A (p.Gln54=) rs1815354847
NM_004260.4(RECQL4):c.1630C>T (p.Leu544=) rs760836827
NM_004260.4(RECQL4):c.1632G>A (p.Leu544=) rs1586812176
NM_004260.4(RECQL4):c.1635A>G (p.Pro545=) rs563366558
NM_004260.4(RECQL4):c.1638G>T (p.Pro546=) rs775478350
NM_004260.4(RECQL4):c.1665G>C (p.Ser555=)
NM_004260.4(RECQL4):c.1686G>A (p.Arg562=) rs2130698251
NM_004260.4(RECQL4):c.1692T>C (p.Ser564=) rs2130698188
NM_004260.4(RECQL4):c.1695C>T (p.Val565=) rs577547011
NM_004260.4(RECQL4):c.1698G>A (p.Leu566=) rs2130698108
NM_004260.4(RECQL4):c.1704+10T>A
NM_004260.4(RECQL4):c.1704+12A>C
NM_004260.4(RECQL4):c.1704+12A>G
NM_004260.4(RECQL4):c.1704+13T>C
NM_004260.4(RECQL4):c.1704+15_1704+16del
NM_004260.4(RECQL4):c.1704+16G>A
NM_004260.4(RECQL4):c.1704+16del
NM_004260.4(RECQL4):c.1704+17C>T
NM_004260.4(RECQL4):c.1704+20del rs2130697797
NM_004260.4(RECQL4):c.1704+7G>A rs2130697967
NM_004260.4(RECQL4):c.1704+8C>T
NM_004260.4(RECQL4):c.1705-10C>G rs758453166
NM_004260.4(RECQL4):c.1705-10C>T
NM_004260.4(RECQL4):c.1705-11G>C
NM_004260.4(RECQL4):c.1705-11G>T
NM_004260.4(RECQL4):c.1705-14C>A
NM_004260.4(RECQL4):c.1705-14C>G
NM_004260.4(RECQL4):c.1705-14C>T
NM_004260.4(RECQL4):c.1705-16A>C rs181952228
NM_004260.4(RECQL4):c.1705-16A>G rs181952228
NM_004260.4(RECQL4):c.1705-17G>A rs770316335
NM_004260.4(RECQL4):c.1705-17G>C
NM_004260.4(RECQL4):c.1705-18T>C rs568261148
NM_004260.4(RECQL4):c.1705-19C>G
NM_004260.4(RECQL4):c.1705-19C>T rs1373712549
NM_004260.4(RECQL4):c.1705-20T>C rs1222852689
NM_004260.4(RECQL4):c.1705-6C>T rs1554899989
NM_004260.4(RECQL4):c.1705-8G>A rs2130697169
NM_004260.4(RECQL4):c.1705-8G>C rs2130697169
NM_004260.4(RECQL4):c.1705-9T>C rs753794303
NM_004260.4(RECQL4):c.1716C>T (p.Ala572=) rs1586811066
NM_004260.4(RECQL4):c.1719G>A (p.Gln573=) rs1486328195
NM_004260.4(RECQL4):c.1729C>T (p.Leu577=) rs973513805
NM_004260.4(RECQL4):c.1731G>A (p.Leu577=)
NM_004260.4(RECQL4):c.1731G>C (p.Leu577=)
NM_004260.4(RECQL4):c.1735C>T (p.Leu579=) rs552226907
NM_004260.4(RECQL4):c.1737G>A (p.Leu579=) rs2130696653
NM_004260.4(RECQL4):c.1743T>C (p.Pro581=)
NM_004260.4(RECQL4):c.1743T>G (p.Pro581=)
NM_004260.4(RECQL4):c.1749A>G (p.Ala583=) rs1586810852
NM_004260.4(RECQL4):c.1752G>A (p.Leu584=)
NM_004260.4(RECQL4):c.1755G>A (p.Val585=) rs539370260
NM_004260.4(RECQL4):c.1755G>C (p.Val585=) rs539370260
NM_004260.4(RECQL4):c.1764A>T (p.Gly588=) rs2130696147
NM_004260.4(RECQL4):c.1770C>G (p.Leu590=) rs377398995
NM_004260.4(RECQL4):c.1779C>A (p.Ala593=) rs369939552
NM_004260.4(RECQL4):c.1779C>G (p.Ala593=)
NM_004260.4(RECQL4):c.177C>G (p.Leu59=) rs764832986
NM_004260.4(RECQL4):c.177C>T (p.Leu59=) rs764832986
NM_004260.4(RECQL4):c.1785G>A (p.Gln595=)
NM_004260.4(RECQL4):c.1800T>C (p.Ala600=)
NM_004260.4(RECQL4):c.1806C>T (p.Ala602=) rs772219901
NM_004260.4(RECQL4):c.1809C>T (p.Cys603=)
NM_004260.4(RECQL4):c.1812T>C (p.Ile604=) rs2130695279
NM_004260.4(RECQL4):c.1815T>C (p.Asp605=) rs1827823634
NM_004260.4(RECQL4):c.1818G>A (p.Glu606=) rs748352386
NM_004260.4(RECQL4):c.1821C>A (p.Ala607=)
NM_004260.4(RECQL4):c.1830C>G (p.Leu610=) rs751342461
NM_004260.4(RECQL4):c.1830C>T (p.Leu610=)
NM_004260.4(RECQL4):c.183C>T (p.Ser61=) rs530002165
NM_004260.4(RECQL4):c.1842C>A (p.Ser614=) rs1371858622
NM_004260.4(RECQL4):c.1842C>T (p.Ser614=) rs1371858622
NM_004260.4(RECQL4):c.1851C>T (p.Phe617=)
NM_004260.4(RECQL4):c.1857C>G (p.Pro619=)
NM_004260.4(RECQL4):c.1869C>G (p.Arg623=) rs368736533
NM_004260.4(RECQL4):c.1872C>G (p.Val624=)
NM_004260.4(RECQL4):c.1875C>T (p.Cys625=) rs1301085885
NM_004260.4(RECQL4):c.1878+10A>T rs754518967
NM_004260.4(RECQL4):c.1878+12G>A
NM_004260.4(RECQL4):c.1878+17C>T rs1363005037
NM_004260.4(RECQL4):c.1878+18T>C
NM_004260.4(RECQL4):c.1878+19G>T
NM_004260.4(RECQL4):c.1878+20G>A
NM_004260.4(RECQL4):c.1878+20G>C
NM_004260.4(RECQL4):c.1878+7C>T rs1586809761
NM_004260.4(RECQL4):c.1878+8A>G
NM_004260.4(RECQL4):c.1879-10T>A
NM_004260.4(RECQL4):c.1879-13G>A rs185203465
NM_004260.4(RECQL4):c.1879-13del
NM_004260.4(RECQL4):c.1879-17T>G
NM_004260.4(RECQL4):c.1879-18C>T
NM_004260.4(RECQL4):c.1879-19A>G rs2130693245
NM_004260.4(RECQL4):c.1879-5T>C
NM_004260.4(RECQL4):c.1879-6G>A
NM_004260.4(RECQL4):c.1879-6G>T rs765433205
NM_004260.4(RECQL4):c.1887G>A (p.Arg629=)
NM_004260.4(RECQL4):c.1887G>C (p.Arg629=) rs774077187
NM_004260.4(RECQL4):c.1893C>T (p.Arg631=) rs2130692725
NM_004260.4(RECQL4):c.1902G>T (p.Val634=) rs1395441455
NM_004260.4(RECQL4):c.1905C>T (p.His635=)
NM_004260.4(RECQL4):c.1908C>T (p.Cys636=) rs2130692519
NM_004260.4(RECQL4):c.1912C>T (p.Leu638=)
NM_004260.4(RECQL4):c.1917C>G (p.Gly639=)
NM_004260.4(RECQL4):c.1920C>T (p.Leu640=) rs1207662600
NM_004260.4(RECQL4):c.1929A>G (p.Thr643=) rs761693070
NM_004260.4(RECQL4):c.1935A>G (p.Thr645=)
NM_004260.4(RECQL4):c.1938C>G (p.Arg646=) rs1827785232
NM_004260.4(RECQL4):c.1947C>T (p.Ala649=)
NM_004260.4(RECQL4):c.1956G>A (p.Val652=)
NM_004260.4(RECQL4):c.1956G>T (p.Val652=) rs1586808634
NM_004260.4(RECQL4):c.195C>T (p.Leu65=) rs369163654
NM_004260.4(RECQL4):c.1968G>A (p.Leu656=) rs2130691378
NM_004260.4(RECQL4):c.1971T>C (p.Ala657=) rs1827779283
NM_004260.4(RECQL4):c.1989C>T (p.Asp663=)
NM_004260.4(RECQL4):c.198C>A (p.Pro66=)
NM_004260.4(RECQL4):c.198C>G (p.Pro66=) rs1357267553
NM_004260.4(RECQL4):c.198C>T (p.Pro66=) rs1357267553
NM_004260.4(RECQL4):c.1998G>A (p.Gly666=)
NM_004260.4(RECQL4):c.2004C>T (p.Ala668=) rs1586808238
NM_004260.4(RECQL4):c.2007A>G (p.Pro669=)
NM_004260.4(RECQL4):c.2013C>G (p.Pro671=) rs746465216
NM_004260.4(RECQL4):c.2016C>T (p.Thr672=)
NM_004260.4(RECQL4):c.201G>A (p.Ala67=) rs1586833178
NM_004260.4(RECQL4):c.2020C>T (p.Leu674=)
NM_004260.4(RECQL4):c.2022G>C (p.Leu674=)
NM_004260.4(RECQL4):c.2034G>A (p.Val678=) rs1448989786
NM_004260.4(RECQL4):c.2037C>T (p.Ser679=) rs1400451855
NM_004260.4(RECQL4):c.204G>A (p.Ala68=) rs904506458
NM_004260.4(RECQL4):c.2055C>T (p.Asp685=)
NM_004260.4(RECQL4):c.2058+14C>T
NM_004260.4(RECQL4):c.2058+15T>C
NM_004260.4(RECQL4):c.2058+17T>C
NM_004260.4(RECQL4):c.2058+17T>G
NM_004260.4(RECQL4):c.2058+17_2058+22del
NM_004260.4(RECQL4):c.2058+18G>A rs2130689774
NM_004260.4(RECQL4):c.2058+20G>A
NM_004260.4(RECQL4):c.2058+8T>C rs1228916625
NM_004260.4(RECQL4):c.2058+9G>A rs766002126
NM_004260.4(RECQL4):c.2059-10T>A
NM_004260.4(RECQL4):c.2059-5A>C rs370542063
NM_004260.4(RECQL4):c.2059-5A>G rs370542063
NM_004260.4(RECQL4):c.2059-5_2059-4insGCCCACGCCAACCGCTCCTCACTCCCCACC
NM_004260.4(RECQL4):c.2059-7T>C rs1386690213
NM_004260.4(RECQL4):c.2059-7_2059-6del
NM_004260.4(RECQL4):c.2059-9C>A
NM_004260.4(RECQL4):c.2061A>G (p.Ala687=)
NM_004260.4(RECQL4):c.2062C>T (p.Leu688=)
NM_004260.4(RECQL4):c.2064G>A (p.Leu688=) rs1586805619
NM_004260.4(RECQL4):c.2065T>C (p.Leu689=) rs2130684742
NM_004260.4(RECQL4):c.2073G>A (p.Leu691=) rs2130684612
NM_004260.4(RECQL4):c.207C>T (p.Ala69=) rs2130740179
NM_004260.4(RECQL4):c.2098C>T (p.Leu700Phe) rs1586805351
NM_004260.4(RECQL4):c.2103T>C (p.Asp701=)
NM_004260.4(RECQL4):c.2112C>A (p.Ile704=) rs368140492
NM_004260.4(RECQL4):c.2115T>C (p.Ile705=)
NM_004260.4(RECQL4):c.2121C>T (p.Cys707=) rs2130683835
NM_004260.4(RECQL4):c.213+10C>T rs565610567
NM_004260.4(RECQL4):c.213+12C>T rs2130739750
NM_004260.4(RECQL4):c.213+13C>T rs745923927
NM_004260.4(RECQL4):c.213+16C>A
NM_004260.4(RECQL4):c.213+17G>A
NM_004260.4(RECQL4):c.213+17G>T
NM_004260.4(RECQL4):c.213+19C>T
NM_004260.4(RECQL4):c.213+20C>G
NM_004260.4(RECQL4):c.213+8G>C
NM_004260.4(RECQL4):c.213+9G>A
NM_004260.4(RECQL4):c.213+9G>C
NM_004260.4(RECQL4):c.213+9_213+10delinsAA rs2130739824
NM_004260.4(RECQL4):c.213+9del
NM_004260.4(RECQL4):c.2130C>A (p.Arg710=)
NM_004260.4(RECQL4):c.2130C>T (p.Arg710=) rs757037180
NM_004260.4(RECQL4):c.2136C>T (p.Asp712=) rs377493345
NM_004260.4(RECQL4):c.2139A>G (p.Thr713=) rs2130683467
NM_004260.4(RECQL4):c.214-16C>A rs371301551
NM_004260.4(RECQL4):c.214-16C>T rs371301551
NM_004260.4(RECQL4):c.214-17C>A rs768498709
NM_004260.4(RECQL4):c.214-17C>T rs768498709
NM_004260.4(RECQL4):c.214-19C>T
NM_004260.4(RECQL4):c.214-4G>A rs1586831137
NM_004260.4(RECQL4):c.214-4G>T rs1586831137
NM_004260.4(RECQL4):c.214-6C>A
NM_004260.4(RECQL4):c.214-6C>G rs1564810891
NM_004260.4(RECQL4):c.214-6C>T rs1564810891
NM_004260.4(RECQL4):c.214-7C>G
NM_004260.4(RECQL4):c.214-8T>C rs1586831210
NM_004260.4(RECQL4):c.214-9C>G
NM_004260.4(RECQL4):c.214-9C>T
NM_004260.4(RECQL4):c.2145G>A (p.Arg715=) rs985838873
NM_004260.4(RECQL4):c.2148C>T (p.Ile716=) rs772168426
NM_004260.4(RECQL4):c.2151T>C (p.Ala717=) rs2130683207
NM_004260.4(RECQL4):c.2154G>C (p.Ala718=) rs745813211
NM_004260.4(RECQL4):c.2160C>G (p.Leu720=)
NM_004260.4(RECQL4):c.2160C>T (p.Leu720=) rs757069680
NM_004260.4(RECQL4):c.2161C>A (p.Arg721=) rs746691436
NM_004260.4(RECQL4):c.2166C>T (p.Thr722=) rs752209547
NM_004260.4(RECQL4):c.216G>A (p.Ala72=) rs753073753
NM_004260.4(RECQL4):c.216G>C (p.Ala72=)
NM_004260.4(RECQL4):c.216G>T (p.Ala72=)
NM_004260.4(RECQL4):c.2170C>T (p.Leu724=) rs536831548
NM_004260.4(RECQL4):c.2172G>A (p.Leu724=)
NM_004260.4(RECQL4):c.2178A>G (p.Ala726=)
NM_004260.4(RECQL4):c.2181C>G (p.Ala727=) rs893247525
NM_004260.4(RECQL4):c.2187C>T (p.Val729=) rs2130682610
NM_004260.4(RECQL4):c.2193G>A (p.Gly731=) rs1586804442
NM_004260.4(RECQL4):c.2196T>C (p.Ser732=) rs373197205
NM_004260.4(RECQL4):c.219A>G (p.Pro73=) rs2130736658
NM_004260.4(RECQL4):c.2201-10T>A
NM_004260.4(RECQL4):c.2201-10_2201-7delinsA
NM_004260.4(RECQL4):c.2201-4A>G rs1554898543
NM_004260.4(RECQL4):c.2201-5C>A
NM_004260.4(RECQL4):c.2201-5C>G rs764321990
NM_004260.4(RECQL4):c.2201-6C>A
NM_004260.4(RECQL4):c.2201-6C>T rs571948798
NM_004260.4(RECQL4):c.2201-7C>G rs751734833
NM_004260.4(RECQL4):c.2201-7C>T
NM_004260.4(RECQL4):c.2201-8C>A rs200942592
NM_004260.4(RECQL4):c.2208C>T (p.Ala736=) rs1183777303
NM_004260.4(RECQL4):c.2211C>G (p.Pro737=) rs768351604
NM_004260.4(RECQL4):c.2211C>T (p.Pro737=) rs768351604
NM_004260.4(RECQL4):c.2217C>T (p.Thr739=) rs2130680777
NM_004260.4(RECQL4):c.2223C>A (p.Ala741=)
NM_004260.4(RECQL4):c.2223C>G (p.Ala741=)
NM_004260.4(RECQL4):c.2226G>A (p.Glu742=) rs200002105
NM_004260.4(RECQL4):c.2232C>T (p.Tyr744=) rs2130680464
NM_004260.4(RECQL4):c.2238G>C (p.Ala746=) rs35215952
NM_004260.4(RECQL4):c.2238G>T (p.Ala746=) rs35215952
NM_004260.4(RECQL4):c.2241C>G (p.Gly747=) rs957407351
NM_004260.4(RECQL4):c.2247C>T (p.Cys749=)
NM_004260.4(RECQL4):c.2251C>A (p.Arg751=) rs750304658
NM_004260.4(RECQL4):c.2253G>C (p.Arg751=)
NM_004260.4(RECQL4):c.2256A>G (p.Glu752=)
NM_004260.4(RECQL4):c.2257C>A (p.Arg753=) rs367570292
NM_004260.4(RECQL4):c.2259G>A (p.Arg753=) rs1472937433
NM_004260.4(RECQL4):c.225C>T (p.Pro75=) rs2130736531
NM_004260.4(RECQL4):c.2262G>T (p.Arg754=)
NM_004260.4(RECQL4):c.2271G>A (p.Gln757=) rs2130679729
NM_004260.4(RECQL4):c.2274A>G (p.Arg758=) rs2130679652
NM_004260.4(RECQL4):c.2289C>T (p.Gly763=) rs1406619995
NM_004260.4(RECQL4):c.2293T>C (p.Leu765=) rs2130679305
NM_004260.4(RECQL4):c.22C>A (p.Arg8=) rs1554905170
NM_004260.4(RECQL4):c.2304G>A (p.Val768=) rs2130679039
NM_004260.4(RECQL4):c.2307G>A (p.Val769=) rs1554898349
NM_004260.4(RECQL4):c.2313G>T (p.Thr771=)
NM_004260.4(RECQL4):c.2319C>T (p.Ala773=) rs1294659607
NM_004260.4(RECQL4):c.231C>T (p.Cys77=)
NM_004260.4(RECQL4):c.2334G>A (p.Leu778=)
NM_004260.4(RECQL4):c.2338C>A (p.Arg780=)
NM_004260.4(RECQL4):c.2340G>A (p.Arg780=)
NM_004260.4(RECQL4):c.2352G>A (p.Arg784=) rs2130678153
NM_004260.4(RECQL4):c.2352G>C (p.Arg784=) rs2130678153
NM_004260.4(RECQL4):c.2355T>C (p.Ala785=) rs1554898259
NM_004260.4(RECQL4):c.2358G>A (p.Val786=) rs2130678043
NM_004260.4(RECQL4):c.2364T>C (p.His788=)
NM_004260.4(RECQL4):c.2365C>T (p.Leu789=) rs2130677910
NM_004260.4(RECQL4):c.2367G>A (p.Leu789=)
NM_004260.4(RECQL4):c.2370G>A (p.Gly790=) rs1586802263
NM_004260.4(RECQL4):c.2371C>T (p.Leu791=) rs1240837003
NM_004260.4(RECQL4):c.2373G>A (p.Leu791=) rs1178488618
NM_004260.4(RECQL4):c.2373G>T (p.Leu791=) rs1178488618
NM_004260.4(RECQL4):c.237G>A (p.Gly79=) rs954589490
NM_004260.4(RECQL4):c.2382C>T (p.Ser794=) rs1237086719
NM_004260.4(RECQL4):c.2397G>A (p.Val799=) rs1586802025
NM_004260.4(RECQL4):c.2409C>A (p.Gly803=) rs1395156045
NM_004260.4(RECQL4):c.240C>T (p.Pro80=) rs878854646
NM_004260.4(RECQL4):c.2412G>T (p.Arg804=) rs2130677053
NM_004260.4(RECQL4):c.2415C>A (p.Ala805=) rs34735741
NM_004260.4(RECQL4):c.2418G>A (p.Gly806=) rs774949186
NM_004260.4(RECQL4):c.244C>T (p.Leu82=)
NM_004260.4(RECQL4):c.2452C>T (p.Leu818=)
NM_004260.4(RECQL4):c.2454G>A (p.Leu818=) rs1586801547
NM_004260.4(RECQL4):c.2463+10C>A rs752112003
NM_004260.4(RECQL4):c.2463+10C>T rs752112003
NM_004260.4(RECQL4):c.2463+7_2463+8del rs750392035
NM_004260.4(RECQL4):c.2463+9C>G rs756789862
NM_004260.4(RECQL4):c.2463+9C>T rs756789862
NM_004260.4(RECQL4):c.2464-10T>G
NM_004260.4(RECQL4):c.2464-11T>C rs2130674407
NM_004260.4(RECQL4):c.2464-18A>G
NM_004260.4(RECQL4):c.2464-19C>A
NM_004260.4(RECQL4):c.2464-19C>G
NM_004260.4(RECQL4):c.2464-20T>A
NM_004260.4(RECQL4):c.2464-5_2464-4delinsCC rs2130674281
NM_004260.4(RECQL4):c.2464-5del rs1461062908
NM_004260.4(RECQL4):c.2464-6C>T rs1172497739
NM_004260.4(RECQL4):c.2464-7C>T rs1281882665
NM_004260.4(RECQL4):c.2464-9G>T
NM_004260.4(RECQL4):c.2466C>A (p.Gly822=) rs767528470
NM_004260.4(RECQL4):c.2466C>T (p.Gly822=) rs767528470
NM_004260.4(RECQL4):c.2472C>T (p.Asp824=)
NM_004260.4(RECQL4):c.2473C>T (p.Leu825=) rs371519199
NM_004260.4(RECQL4):c.2475G>A (p.Leu825=)
NM_004260.4(RECQL4):c.2475G>C (p.Leu825=)
NM_004260.4(RECQL4):c.2478A>C (p.Arg826=)
NM_004260.4(RECQL4):c.2482C>T (p.Leu828=) rs1444716268
NM_004260.4(RECQL4):c.2484G>A (p.Leu828=)
NM_004260.4(RECQL4):c.2487C>T (p.Arg829=) rs2130673715
NM_004260.4(RECQL4):c.24G>T (p.Arg8=) rs2130746321
NM_004260.4(RECQL4):c.2517C>T (p.Phe839=) rs2130673158
NM_004260.4(RECQL4):c.2520G>A (p.Leu840=)
NM_004260.4(RECQL4):c.2520G>T (p.Leu840=) rs1554897859
NM_004260.4(RECQL4):c.252G>C (p.Arg84=) rs1483294893
NM_004260.4(RECQL4):c.2544C>G (p.Arg848=) rs200114521
NM_004260.4(RECQL4):c.2547G>T (p.Val849=) rs1827554882
NM_004260.4(RECQL4):c.2553A>G (p.Pro851=) rs2130672409
NM_004260.4(RECQL4):c.255T>G (p.Ala85=) rs1163167976
NM_004260.4(RECQL4):c.2562C>T (p.Thr854=) rs1428902856
NM_004260.4(RECQL4):c.2565C>T (p.Cys855=) rs768163180
NM_004260.4(RECQL4):c.2568C>A (p.Thr856=) rs1401559978
NM_004260.4(RECQL4):c.2568C>G (p.Thr856=)
NM_004260.4(RECQL4):c.2574C>G (p.Thr858=)
NM_004260.4(RECQL4):c.2583C>G (p.Pro861=) rs746331252
NM_004260.4(RECQL4):c.2583C>T (p.Pro861=) rs746331252
NM_004260.4(RECQL4):c.2586G>T (p.Ser862=) rs201012205
NM_004260.4(RECQL4):c.258G>A (p.Ala86=) rs1815246815
NM_004260.4(RECQL4):c.258G>C (p.Ala86=) rs1815246815
NM_004260.4(RECQL4):c.2592G>A (p.Gln864=) rs878854648
NM_004260.4(RECQL4):c.2598G>C (p.Gly866=) rs1586799490
NM_004260.4(RECQL4):c.2601C>T (p.Ala867=) rs34358597
NM_004260.4(RECQL4):c.2610G>A (p.Gly870=) rs767380939
NM_004260.4(RECQL4):c.2619T>C (p.Pro873=)
NM_004260.4(RECQL4):c.261C>A (p.Thr87=) rs924413586
NM_004260.4(RECQL4):c.261C>G (p.Thr87=) rs924413586
NM_004260.4(RECQL4):c.261C>T (p.Thr87=) rs924413586
NM_004260.4(RECQL4):c.2625C>T (p.Pro875=) rs2130671101
NM_004260.4(RECQL4):c.2634C>G (p.Pro878=) rs769166199
NM_004260.4(RECQL4):c.2634C>T (p.Pro878=) rs769166199
NM_004260.4(RECQL4):c.2637T>C (p.Pro879=) rs909977633
NM_004260.4(RECQL4):c.2637T>G (p.Pro879=)
NM_004260.4(RECQL4):c.2646T>C (p.Ala882=)
NM_004260.4(RECQL4):c.2649G>A (p.Glu883=) rs2130670688
NM_004260.4(RECQL4):c.2661C>T (p.His887=)
NM_004260.4(RECQL4):c.2673A>C (p.Pro891=) rs751424598
NM_004260.4(RECQL4):c.2680A>C (p.Arg894=)
NM_004260.4(RECQL4):c.2700T>C (p.His900=) rs1554897521
NM_004260.4(RECQL4):c.2709A>C (p.Ala903=) rs2130669801
NM_004260.4(RECQL4):c.270A>C (p.Pro90=)
NM_004260.4(RECQL4):c.270A>G (p.Pro90=)
NM_004260.4(RECQL4):c.2712C>G (p.Leu904=) rs1827521457
NM_004260.4(RECQL4):c.2712C>T (p.Leu904=) rs1827521457
NM_004260.4(RECQL4):c.2715A>G (p.Pro905=) rs1463979799
NM_004260.4(RECQL4):c.2721G>A (p.Gln907=) rs1263261186
NM_004260.4(RECQL4):c.2736T>C (p.Ala912=)
NM_004260.4(RECQL4):c.2736T>G (p.Ala912=) rs1013860595
NM_004260.4(RECQL4):c.2739G>A (p.Leu913=) rs2130669385
NM_004260.4(RECQL4):c.2755+12G>C
NM_004260.4(RECQL4):c.2755+17A>G rs1269526311
NM_004260.4(RECQL4):c.2755+18A>G rs747958529
NM_004260.4(RECQL4):c.2755+20C>G rs1328270719
NM_004260.4(RECQL4):c.2755+9C>T rs749496256
NM_004260.4(RECQL4):c.2756-10C>G rs748950139
NM_004260.4(RECQL4):c.2756-13G>A
NM_004260.4(RECQL4):c.2756-13G>C rs2130668084
NM_004260.4(RECQL4):c.2756-16C>G
NM_004260.4(RECQL4):c.2756-17C>A
NM_004260.4(RECQL4):c.2756-17C>T rs531236566
NM_004260.4(RECQL4):c.2756-18G>A
NM_004260.4(RECQL4):c.2756-20G>A rs2130668218
NM_004260.4(RECQL4):c.2756-7C>T rs1014958541
NM_004260.4(RECQL4):c.2756-8G>A rs372723857
NM_004260.4(RECQL4):c.2756-9T>C rs2130668003
NM_004260.4(RECQL4):c.2757C>G (p.Ala919=)
NM_004260.4(RECQL4):c.2760C>T (p.Ile920=) rs752058642
NM_004260.4(RECQL4):c.2770C>T (p.Leu924=)
NM_004260.4(RECQL4):c.2778C>T (p.Tyr926=)
NM_004260.4(RECQL4):c.2779C>T (p.Leu927=) rs372304382
NM_004260.4(RECQL4):c.2781G>A (p.Leu927=) rs2130667401
NM_004260.4(RECQL4):c.2785C>T (p.Leu929=) rs2130667358
NM_004260.4(RECQL4):c.2787G>A (p.Leu929=)
NM_004260.4(RECQL4):c.2793A>C (p.Pro931=) rs2130667230
NM_004260.4(RECQL4):c.27G>A (p.Glu9=) rs1554905164
NM_004260.4(RECQL4):c.2803C>T (p.Leu935=)
NM_004260.4(RECQL4):c.2808G>A (p.Glu936=) rs1442521340
NM_004260.4(RECQL4):c.2809C>T (p.Leu937=) rs1827482477
NM_004260.4(RECQL4):c.2811G>C (p.Leu937=) rs368178215
NM_004260.4(RECQL4):c.2812C>T (p.Leu938=) rs2130666915
NM_004260.4(RECQL4):c.2814G>A (p.Leu938=) rs1184120833
NM_004260.4(RECQL4):c.2817G>C (p.Ala939=) rs202045203
NM_004260.4(RECQL4):c.2829C>T (p.Thr943=)
NM_004260.4(RECQL4):c.2835C>T (p.Cys945=) rs2130666512
NM_004260.4(RECQL4):c.2839C>T (p.Leu947=) rs1327327028
NM_004260.4(RECQL4):c.2841G>C (p.Leu947=) rs1827476523
NM_004260.4(RECQL4):c.2850T>G (p.Pro950=)
NM_004260.4(RECQL4):c.2853G>A (p.Gly951=) rs2130666267
NM_004260.4(RECQL4):c.2853G>C (p.Gly951=) rs2130666267
NM_004260.4(RECQL4):c.2859T>C (p.Pro953=) rs1586796827
NM_004260.4(RECQL4):c.285G>A (p.Gly95=)
NM_004260.4(RECQL4):c.2862C>T (p.Ala954=)
NM_004260.4(RECQL4):c.2868C>T (p.Leu956=) rs1586796769
NM_004260.4(RECQL4):c.2880C>A (p.Ala960=)
NM_004260.4(RECQL4):c.2885+10C>A rs1827465978
NM_004260.4(RECQL4):c.2885+10C>T rs1827465978
NM_004260.4(RECQL4):c.2885+12C>G rs775528539
NM_004260.4(RECQL4):c.2885+12C>T rs775528539
NM_004260.4(RECQL4):c.2885+13T>A rs1330356044
NM_004260.4(RECQL4):c.2885+13T>C
NM_004260.4(RECQL4):c.2885+14G>A rs1827465246
NM_004260.4(RECQL4):c.2885+14G>T
NM_004260.4(RECQL4):c.2885+15C>T
NM_004260.4(RECQL4):c.2885+18A>T rs2130665369
NM_004260.4(RECQL4):c.2885+20T>C rs555930479
NM_004260.4(RECQL4):c.2885+20T>G rs555930479
NM_004260.4(RECQL4):c.2885+7A>T
NM_004260.4(RECQL4):c.2885+8C>A rs370547126
NM_004260.4(RECQL4):c.2886-11C>T
NM_004260.4(RECQL4):c.2886-12C>G
NM_004260.4(RECQL4):c.2886-13T>A
NM_004260.4(RECQL4):c.2886-13T>C
NM_004260.4(RECQL4):c.2886-15T>C rs2130664624
NM_004260.4(RECQL4):c.2886-18_2886-17del
NM_004260.4(RECQL4):c.2886-18dup rs1827455234
NM_004260.4(RECQL4):c.2886-20C>G rs780253117
NM_004260.4(RECQL4):c.2886-20C>T
NM_004260.4(RECQL4):c.2886-4A>C rs1554897071
NM_004260.4(RECQL4):c.2886-6G>A rs752697206
NM_004260.4(RECQL4):c.2886-9T>C rs1388223940
NM_004260.4(RECQL4):c.288G>A (p.Arg96=)
NM_004260.4(RECQL4):c.2892C>T (p.Pro964=) rs776537316
NM_004260.4(RECQL4):c.2901T>C (p.Ala967=) rs1827447042
NM_004260.4(RECQL4):c.2904G>A (p.Val968=) rs1554897039
NM_004260.4(RECQL4):c.2907C>T (p.Cys969=) rs772780752
NM_004260.4(RECQL4):c.291C>T (p.Ser97=) rs762806249
NM_004260.4(RECQL4):c.2920C>T (p.Leu974=) rs1263288809
NM_004260.4(RECQL4):c.2925T>C (p.Pro975=)
NM_004260.4(RECQL4):c.2928G>A (p.Glu976=)
NM_004260.4(RECQL4):c.2934A>C (p.Pro978=)
NM_004260.4(RECQL4):c.2940A>G (p.Gln980=)
NM_004260.4(RECQL4):c.2943C>G (p.Gly981=) rs1362234337
NM_004260.4(RECQL4):c.2943C>T (p.Gly981=)
NM_004260.4(RECQL4):c.2946C>T (p.Ser982=) rs2130663477
NM_004260.4(RECQL4):c.294C>T (p.Arg98=) rs2130735408
NM_004260.4(RECQL4):c.2955G>C (p.Val985=) rs1244297736
NM_004260.4(RECQL4):c.2964C>T (p.Asp988=)
NM_004260.4(RECQL4):c.2970C>A (p.Val990=) rs2130663010
NM_004260.4(RECQL4):c.2970C>G (p.Val990=) rs2130663010
NM_004260.4(RECQL4):c.2973G>A (p.Lys991=) rs763547531
NM_004260.4(RECQL4):c.2979G>A (p.Val993=)
NM_004260.4(RECQL4):c.2991C>T (p.Gly997=)
NM_004260.4(RECQL4):c.3003C>T (p.Ala1001=) rs1564790603
NM_004260.4(RECQL4):c.3010C>A (p.Arg1004=)
NM_004260.4(RECQL4):c.3012G>A (p.Arg1004=)
NM_004260.4(RECQL4):c.3018T>A (p.Ala1006=) rs2130662277
NM_004260.4(RECQL4):c.3018T>C (p.Ala1006=) rs2130662277
NM_004260.4(RECQL4):c.3018T>G (p.Ala1006=) rs2130662277
NM_004260.4(RECQL4):c.3024C>T (p.Cys1008=)
NM_004260.4(RECQL4):c.3028C>T (p.Leu1010=) rs1373023053
NM_004260.4(RECQL4):c.3033G>A (p.Gln1011=) rs1478532229
NM_004260.4(RECQL4):c.303G>A (p.Ser101=) rs777361751
NM_004260.4(RECQL4):c.3051G>A (p.Arg1017=)
NM_004260.4(RECQL4):c.3055+10_3055+11del
NM_004260.4(RECQL4):c.3055+11C>T rs2130661515
NM_004260.4(RECQL4):c.3055+12C>G
NM_004260.4(RECQL4):c.3055+13C>T
NM_004260.4(RECQL4):c.3055+14C>T
NM_004260.4(RECQL4):c.3055+15A>G rs1325875335
NM_004260.4(RECQL4):c.3055+16C>T
NM_004260.4(RECQL4):c.3055+17C>G
NM_004260.4(RECQL4):c.3055+18C>G
NM_004260.4(RECQL4):c.3055+20A>G
NM_004260.4(RECQL4):c.3055+7C>T rs372511135
NM_004260.4(RECQL4):c.3055+9C>T rs2130661528
NM_004260.4(RECQL4):c.3056-11C>G rs374983038
NM_004260.4(RECQL4):c.3056-16A>G
NM_004260.4(RECQL4):c.3056-17G>A
NM_004260.4(RECQL4):c.3056-19C>T
NM_004260.4(RECQL4):c.3056-20T>A
NM_004260.4(RECQL4):c.3056-4G>A rs2130660782
NM_004260.4(RECQL4):c.3056-4G>T rs2130660782
NM_004260.4(RECQL4):c.3056-5G>T rs774320251
NM_004260.4(RECQL4):c.3056-7C>A rs2130660831
NM_004260.4(RECQL4):c.3060G>C (p.Val1020=) rs768374433
NM_004260.4(RECQL4):c.3063G>A (p.Arg1021=)
NM_004260.4(RECQL4):c.3063G>C (p.Arg1021=) rs940837869
NM_004260.4(RECQL4):c.3069G>A (p.Gly1023=)
NM_004260.4(RECQL4):c.3069G>C (p.Gly1023=) rs1827398356
NM_004260.4(RECQL4):c.306G>A (p.Val102=) rs2130735160
NM_004260.4(RECQL4):c.3075G>T (p.Gly1025=)
NM_004260.4(RECQL4):c.3081T>C (p.Leu1027=)
NM_004260.4(RECQL4):c.3081T>G (p.Leu1027=)
NM_004260.4(RECQL4):c.3084G>A (p.Val1028=) rs1827393391
NM_004260.4(RECQL4):c.3087G>A (p.Glu1029=)
NM_004260.4(RECQL4):c.3093T>C (p.Ser1031=) rs2130660060
NM_004260.4(RECQL4):c.3099G>A (p.Leu1033=) rs2130660004
NM_004260.4(RECQL4):c.309G>C (p.Pro103=)
NM_004260.4(RECQL4):c.30G>T (p.Arg10=) rs1267285154
NM_004260.4(RECQL4):c.3102C>A (p.Ala1034=) rs774570166
NM_004260.4(RECQL4):c.3114C>T (p.Arg1038=)
NM_004260.4(RECQL4):c.3117C>T (p.Ser1039=) rs1827386919
NM_004260.4(RECQL4):c.3120G>C (p.Pro1040=) rs771832340
NM_004260.4(RECQL4):c.3123G>A (p.Gly1041=) rs2130659612
NM_004260.4(RECQL4):c.3123G>T (p.Gly1041=)
NM_004260.4(RECQL4):c.3129G>A (p.Leu1043=)
NM_004260.4(RECQL4):c.3132C>G (p.Thr1044=) rs373238823
NM_004260.4(RECQL4):c.3135T>C (p.Ala1045=) rs2130659308
NM_004260.4(RECQL4):c.3138G>A (p.Glu1046=)
NM_004260.4(RECQL4):c.3141G>A (p.Glu1047=) rs756604801
NM_004260.4(RECQL4):c.3150G>A (p.Gln1050=) rs2130659036
NM_004260.4(RECQL4):c.3159C>T (p.Asp1053=) rs763131728
NM_004260.4(RECQL4):c.315C>T (p.Tyr105=)
NM_004260.4(RECQL4):c.3165C>A (p.Leu1055=) rs760532630
NM_004260.4(RECQL4):c.3165C>G (p.Leu1055=)
NM_004260.4(RECQL4):c.3165C>T (p.Leu1055=) rs760532630
NM_004260.4(RECQL4):c.3168T>C (p.Tyr1056=) rs2130658722
NM_004260.4(RECQL4):c.3171C>T (p.Gly1057=) rs2130658692
NM_004260.4(RECQL4):c.3172C>G (p.Arg1058Gly) rs375297971
NM_004260.4(RECQL4):c.3174T>C (p.Arg1058=) rs768470543
NM_004260.4(RECQL4):c.3174T>G (p.Arg1058=)
NM_004260.4(RECQL4):c.3177G>T (p.Val1059=) rs2130658581
NM_004260.4(RECQL4):c.3180G>A (p.Gln1060=)
NM_004260.4(RECQL4):c.3186G>A (p.Arg1062=)
NM_004260.4(RECQL4):c.3189G>A (p.Glu1063=) rs1827364974
NM_004260.4(RECQL4):c.318G>A (p.Gly106=)
NM_004260.4(RECQL4):c.318G>T (p.Gly106=) rs756229189
NM_004260.4(RECQL4):c.3192C>T (p.Arg1064=) rs1827363428
NM_004260.4(RECQL4):c.3198C>T (p.Ala1066=)
NM_004260.4(RECQL4):c.3201G>A (p.Leu1067=)
NM_004260.4(RECQL4):c.3201G>C (p.Leu1067=)
NM_004260.4(RECQL4):c.3201G>T (p.Leu1067=)
NM_004260.4(RECQL4):c.3204C>G (p.Ala1068=) rs764423233
NM_004260.4(RECQL4):c.3208C>T (p.Leu1070=)
NM_004260.4(RECQL4):c.3210G>A (p.Leu1070=) rs539631209
NM_004260.4(RECQL4):c.3210G>T (p.Leu1070=) rs539631209
NM_004260.4(RECQL4):c.3214A>C (p.Arg1072=) rs386833853
NM_004260.4(RECQL4):c.3219C>T (p.Thr1073=) rs769367312
NM_004260.4(RECQL4):c.3222C>T (p.Phe1074=) rs1827350610
NM_004260.4(RECQL4):c.3225G>A (p.Gln1075=) rs1554896553
NM_004260.4(RECQL4):c.3228C>T (p.Ala1076=) rs1231644122
NM_004260.4(RECQL4):c.3236+11G>A
NM_004260.4(RECQL4):c.3236+12_3236+13delinsAT rs2130657403
NM_004260.4(RECQL4):c.3236+12_3236+21del rs2130657233
NM_004260.4(RECQL4):c.3236+13C>A
NM_004260.4(RECQL4):c.3236+15G>A
NM_004260.4(RECQL4):c.3236+16dup rs2130657334
NM_004260.4(RECQL4):c.3236+18G>C
NM_004260.4(RECQL4):c.3236+20G>A
NM_004260.4(RECQL4):c.3236+7A>G rs757835027
NM_004260.4(RECQL4):c.3236+8G>A
NM_004260.4(RECQL4):c.3237-10C>G
NM_004260.4(RECQL4):c.3237-12_3237-11delinsCT rs2130656607
NM_004260.4(RECQL4):c.3237-13C>G
NM_004260.4(RECQL4):c.3237-14G>A
NM_004260.4(RECQL4):c.3237-15G>A
NM_004260.4(RECQL4):c.3237-16A>G rs750518119
NM_004260.4(RECQL4):c.3237-17C>T
NM_004260.4(RECQL4):c.3237-20T>C rs780188311
NM_004260.4(RECQL4):c.3237-4A>G
NM_004260.4(RECQL4):c.3237-5C>T
NM_004260.4(RECQL4):c.3237-7C>T rs1217004039
NM_004260.4(RECQL4):c.3237-8C>T rs533128954
NM_004260.4(RECQL4):c.3240A>T (p.Val1080=)
NM_004260.4(RECQL4):c.3243C>T (p.Ala1081=) rs576322077
NM_004260.4(RECQL4):c.3249C>T (p.Pro1083=) rs886038539
NM_004260.4(RECQL4):c.3252C>T (p.Ser1084=)
NM_004260.4(RECQL4):c.3264C>T (p.Cys1088=) rs1261990868
NM_004260.4(RECQL4):c.3267G>A (p.Leu1089=) rs1193979802
NM_004260.4(RECQL4):c.3270G>A (p.Glu1090=)
NM_004260.4(RECQL4):c.3276G>A (p.Gln1092=) rs1412273753
NM_004260.4(RECQL4):c.3279T>C (p.Asp1093=) rs2130655683
NM_004260.4(RECQL4):c.3288C>T (p.Arg1096=)
NM_004260.4(RECQL4):c.3291C>T (p.Ser1097=)
NM_004260.4(RECQL4):c.3306C>T (p.Asp1102=) rs1478564851
NM_004260.4(RECQL4):c.3307C>T (p.Leu1103=) rs1375576223
NM_004260.4(RECQL4):c.3309G>A (p.Leu1103=) rs986482653
NM_004260.4(RECQL4):c.3309G>C (p.Leu1103=)
NM_004260.4(RECQL4):c.3312C>A (p.Leu1104=) rs903928753
NM_004260.4(RECQL4):c.3312C>G (p.Leu1104=)
NM_004260.4(RECQL4):c.3315C>T (p.Gly1105=)
NM_004260.4(RECQL4):c.3321C>T (p.Tyr1107=)
NM_004260.4(RECQL4):c.3324T>C (p.Phe1108=) rs1326099113
NM_004260.4(RECQL4):c.3333G>A (p.Glu1111=) rs1324387645
NM_004260.4(RECQL4):c.333C>T (p.Ala111=) rs775455110
NM_004260.4(RECQL4):c.3348G>T (p.Pro1116=) rs368712314
NM_004260.4(RECQL4):c.3360G>A (p.Glu1120=) rs770246912
NM_004260.4(RECQL4):c.3366A>C (p.Ala1122=)
NM_004260.4(RECQL4):c.3369G>A (p.Gln1123=)
NM_004260.4(RECQL4):c.336T>C (p.Asn112=)
NM_004260.4(RECQL4):c.3375C>A (p.Pro1125=)
NM_004260.4(RECQL4):c.337C>T (p.Leu113=) rs370011366
NM_004260.4(RECQL4):c.3384G>A (p.Gly1128=)
NM_004260.4(RECQL4):c.3390C>G (p.Ala1130=) rs2130653895
NM_004260.4(RECQL4):c.3393+11T>C
NM_004260.4(RECQL4):c.3393+12A>G rs1464007089
NM_004260.4(RECQL4):c.3393+13dup rs1206314292
NM_004260.4(RECQL4):c.3393+15G>A
NM_004260.4(RECQL4):c.3393+17C>A rs776076152
NM_004260.4(RECQL4):c.3393+17C>G
NM_004260.4(RECQL4):c.3393+17C>T rs776076152
NM_004260.4(RECQL4):c.3393+18A>T
NM_004260.4(RECQL4):c.3393+20G>A
NM_004260.4(RECQL4):c.3393+7_3393+8delinsAT rs1060504210
NM_004260.4(RECQL4):c.3393+9A>C rs4251692
NM_004260.4(RECQL4):c.3394-12C>G
NM_004260.4(RECQL4):c.3394-12C>T
NM_004260.4(RECQL4):c.3394-13C>A rs539751764
NM_004260.4(RECQL4):c.3394-13C>T
NM_004260.4(RECQL4):c.3394-15T>C
NM_004260.4(RECQL4):c.3394-17T>A rs761949478
NM_004260.4(RECQL4):c.3394-17T>C rs761949478
NM_004260.4(RECQL4):c.3394-19G>A rs1564787794
NM_004260.4(RECQL4):c.3394-19G>C rs1564787794
NM_004260.4(RECQL4):c.3394-19dup
NM_004260.4(RECQL4):c.3394-4A>G rs777542762
NM_004260.4(RECQL4):c.3394-4dup rs2130652323
NM_004260.4(RECQL4):c.3394-7CA[2] rs1827258737
NM_004260.4(RECQL4):c.3394-8C>A
NM_004260.4(RECQL4):c.3394-9T>C rs746656592
NM_004260.4(RECQL4):c.3396C>T (p.Leu1132=)
NM_004260.4(RECQL4):c.339G>C (p.Leu113=) rs776241911
NM_004260.4(RECQL4):c.33G>A (p.Leu11=) rs2130746115
NM_004260.4(RECQL4):c.3408G>A (p.Glu1136=)
NM_004260.4(RECQL4):c.3414G>A (p.Gln1138=) rs2130652091
NM_004260.4(RECQL4):c.3417C>G (p.Val1139=) rs761157177
NM_004260.4(RECQL4):c.342A>G (p.Lys114=) rs2130734641
NM_004260.4(RECQL4):c.3432C>T (p.Arg1144=) rs562024579
NM_004260.4(RECQL4):c.3435G>A (p.Gln1145=) rs61755066
NM_004260.4(RECQL4):c.3438C>T (p.Phe1146=) rs1554895855
NM_004260.4(RECQL4):c.3441G>C (p.Leu1147=) rs2130651747
NM_004260.4(RECQL4):c.3445C>T (p.Leu1149=) rs748732922
NM_004260.4(RECQL4):c.3450G>A (p.Arg1150=) rs1554895831
NM_004260.4(RECQL4):c.3456G>A (p.Glu1152=) rs756549605
NM_004260.4(RECQL4):c.3462G>A (p.Lys1154=)
NM_004260.4(RECQL4):c.3468C>T (p.Ser1156=)
NM_004260.4(RECQL4):c.3471C>T (p.Ser1157=) rs1827240115
NM_004260.4(RECQL4):c.3477T>C (p.Ala1159=)
NM_004260.4(RECQL4):c.3489C>A (p.Ile1163=) rs1056576166
NM_004260.4(RECQL4):c.348C>T (p.Thr116=) rs747642273
NM_004260.4(RECQL4):c.3498C>T (p.Gly1166=) rs756666498
NM_004260.4(RECQL4):c.3502+10G>T
NM_004260.4(RECQL4):c.3502+10_3502+18del
NM_004260.4(RECQL4):c.3502+13A>T
NM_004260.4(RECQL4):c.3502+14G>T
NM_004260.4(RECQL4):c.3502+15G>A rs1422782410
NM_004260.4(RECQL4):c.3502+16C>G rs752841311
NM_004260.4(RECQL4):c.3502+17C>A
NM_004260.4(RECQL4):c.3502+17_3503-57del rs2130650013
NM_004260.4(RECQL4):c.3502+18C>T
NM_004260.4(RECQL4):c.3502+19C>T
NM_004260.4(RECQL4):c.3502+8C>G rs1060504222
NM_004260.4(RECQL4):c.3502+8C>T
NM_004260.4(RECQL4):c.3503-11C>A
NM_004260.4(RECQL4):c.3503-11C>T rs2130649472
NM_004260.4(RECQL4):c.3503-14T>C
NM_004260.4(RECQL4):c.3503-16C>G
NM_004260.4(RECQL4):c.3503-18_3503-17del rs755908070
NM_004260.4(RECQL4):c.3503-19T>C
NM_004260.4(RECQL4):c.3503-20_3503-10dup
NM_004260.4(RECQL4):c.3503-21_3503-5dup
NM_004260.4(RECQL4):c.3503-23_3503-4dup rs1287981034
NM_004260.4(RECQL4):c.3503-5C>G rs539465528
NM_004260.4(RECQL4):c.3503-9C>T
NM_004260.4(RECQL4):c.3510C>T (p.Pro1170=) rs1005731353
NM_004260.4(RECQL4):c.3516C>T (p.Tyr1172=) rs2130649193
NM_004260.4(RECQL4):c.3519G>C (p.Pro1173=) rs754019797
NM_004260.4(RECQL4):c.3519G>T (p.Pro1173=) rs754019797
NM_004260.4(RECQL4):c.3537G>A (p.Gln1179=)
NM_004260.4(RECQL4):c.354+12G>A
NM_004260.4(RECQL4):c.354+13C>T rs757366794
NM_004260.4(RECQL4):c.354+15G>A
NM_004260.4(RECQL4):c.354+16G>A
NM_004260.4(RECQL4):c.354+16G>T rs2130734137
NM_004260.4(RECQL4):c.354+17C>T rs2130734121
NM_004260.4(RECQL4):c.354+20T>C rs765244926
NM_004260.4(RECQL4):c.354+20_354+21del
NM_004260.4(RECQL4):c.354+3G>A rs2130734396
NM_004260.4(RECQL4):c.3543A>T (p.Arg1181=) rs2130648788
NM_004260.4(RECQL4):c.3546C>A (p.Arg1182=)
NM_004260.4(RECQL4):c.3546C>T (p.Arg1182=) rs2130648722
NM_004260.4(RECQL4):c.355-10C>T
NM_004260.4(RECQL4):c.355-11T>G
NM_004260.4(RECQL4):c.355-11_355-6del
NM_004260.4(RECQL4):c.355-12T>C
NM_004260.4(RECQL4):c.355-14T>C
NM_004260.4(RECQL4):c.355-15T>C
NM_004260.4(RECQL4):c.355-16G>A
NM_004260.4(RECQL4):c.355-16G>T
NM_004260.4(RECQL4):c.355-18C>A rs371484834
NM_004260.4(RECQL4):c.355-18C>T rs371484834
NM_004260.4(RECQL4):c.355-4C>T rs1231909037
NM_004260.4(RECQL4):c.355-8C>G rs368782236
NM_004260.4(RECQL4):c.355-9C>A rs571686323
NM_004260.4(RECQL4):c.355-9C>T rs571686323
NM_004260.4(RECQL4):c.3555A>G (p.Arg1185=) rs1586787396
NM_004260.4(RECQL4):c.3562C>T (p.Leu1188=) rs780285435
NM_004260.4(RECQL4):c.3568C>T (p.Leu1190=)
NM_004260.4(RECQL4):c.3576C>T (p.Phe1192=) rs1586787251
NM_004260.4(RECQL4):c.3579T>C (p.His1193=)
NM_004260.4(RECQL4):c.357C>A (p.Ala119=) rs758460596
NM_004260.4(RECQL4):c.3582C>G (p.Ala1194=) rs772747279
NM_004260.4(RECQL4):c.3583C>T (p.Leu1195=) rs1353637154
NM_004260.4(RECQL4):c.3585G>A (p.Leu1195=) rs767956471
NM_004260.4(RECQL4):c.3585G>C (p.Leu1195=) rs767956471
NM_004260.4(RECQL4):c.3588G>C (p.Val1196=) rs774611413
NM_004260.4(RECQL4):c.3594G>T (p.Leu1198=)
NM_004260.4(RECQL4):c.3597C>T (p.Ala1199=) rs775914502
NM_004260.4(RECQL4):c.3600G>C (p.Thr1200=) rs35225938
NM_004260.4(RECQL4):c.3603A>G (p.Glu1201=)
NM_004260.4(RECQL4):c.3606G>A (p.Glu1202=)
NM_004260.4(RECQL4):c.3609C>A (p.Leu1203=) rs201384843
NM_004260.4(RECQL4):c.3610C>T (p.Leu1204=)
NM_004260.4(RECQL4):c.3615G>A (p.Gln1205=) rs1586786914
NM_004260.4(RECQL4):c.3621C>T (p.Ala1207=) rs1827170381
NM_004260.4(RECQL4):c.3624C>A (p.Arg1208=) rs56341125
NM_004260.4(RECQL4):c.3624C>G (p.Arg1208=)
NM_004260.4(RECQL4):c.3624C>T (p.Arg1208=) rs56341125
NM_004260.4(RECQL4):c.363A>C (p.Pro121=)
NM_004260.4(RECQL4):c.363A>G (p.Pro121=) rs1411551213
NM_004260.4(RECQL4):c.367C>T (p.Leu123=)
NM_004260.4(RECQL4):c.375C>T (p.Arg125=) rs1815102130
NM_004260.4(RECQL4):c.381G>A (p.Pro127=) rs529008787
NM_004260.4(RECQL4):c.390A>C (p.Leu130=) rs1586827011
NM_004260.4(RECQL4):c.398C>T (p.Ala133Val) rs1815095431
NM_004260.4(RECQL4):c.399C>T (p.Ala133=) rs1554903680
NM_004260.4(RECQL4):c.39G>T (p.Ala13=) rs778012969
NM_004260.4(RECQL4):c.402A>G (p.Ser134=)
NM_004260.4(RECQL4):c.408G>A (p.Lys136=) rs1815093098
NM_004260.4(RECQL4):c.417C>T (p.Thr139=) rs1554903649
NM_004260.4(RECQL4):c.426C>G (p.Pro142=) rs1471399547
NM_004260.4(RECQL4):c.438G>A (p.Gly146=) rs764797288
NM_004260.4(RECQL4):c.441T>C (p.Pro147=)
NM_004260.4(RECQL4):c.447C>G (p.Pro149=)
NM_004260.4(RECQL4):c.450C>G (p.Ser150=)
NM_004260.4(RECQL4):c.450C>T (p.Ser150=)
NM_004260.4(RECQL4):c.465C>T (p.Val155=) rs116137512
NM_004260.4(RECQL4):c.468T>C (p.Ser156=) rs757169988
NM_004260.4(RECQL4):c.471T>C (p.Asp157=) rs1586826326
NM_004260.4(RECQL4):c.474G>A (p.Glu158=) rs1186107059
NM_004260.4(RECQL4):c.480A>T (p.Pro160=)
NM_004260.4(RECQL4):c.483G>A (p.Gln161=) rs985628516
NM_004260.4(RECQL4):c.486C>A (p.Leu162=) rs955555365
NM_004260.4(RECQL4):c.486C>T (p.Leu162=) rs955555365
NM_004260.4(RECQL4):c.489T>C (p.Pro163=)
NM_004260.4(RECQL4):c.48C>T (p.Arg16=)
NM_004260.4(RECQL4):c.495C>A (p.Pro165=) rs1361421482
NM_004260.4(RECQL4):c.498G>A (p.Gln166=) rs761189570
NM_004260.4(RECQL4):c.510C>G (p.Gly170=)
NM_004260.4(RECQL4):c.513G>C (p.Arg171=) rs878854651
NM_004260.4(RECQL4):c.516C>G (p.Leu172=) rs1554903496
NM_004260.4(RECQL4):c.519G>A (p.Gln173=)
NM_004260.4(RECQL4):c.51G>A (p.Ala17=) rs1586835768
NM_004260.4(RECQL4):c.51G>C (p.Ala17=) rs1586835768
NM_004260.4(RECQL4):c.520C>T (p.His174Tyr) rs369382124
NM_004260.4(RECQL4):c.531A>G (p.Ala177=)
NM_004260.4(RECQL4):c.531A>T (p.Ala177=)
NM_004260.4(RECQL4):c.534C>T (p.Ser178=)
NM_004260.4(RECQL4):c.54C>T (p.Phe18=) rs1291744875
NM_004260.4(RECQL4):c.555C>T (p.Ser185=)
NM_004260.4(RECQL4):c.561T>C (p.Asp187=) rs2130726467
NM_004260.4(RECQL4):c.567C>T (p.Gly189=) rs1815044301
NM_004260.4(RECQL4):c.573A>G (p.Leu191=)
NM_004260.4(RECQL4):c.576G>A (p.Gln192=)
NM_004260.4(RECQL4):c.594C>G (p.Val198=) rs1060504214
NM_004260.4(RECQL4):c.594C>T (p.Val198=)
NM_004260.4(RECQL4):c.597A>C (p.Pro199=)
NM_004260.4(RECQL4):c.597A>G (p.Pro199=)
NM_004260.4(RECQL4):c.603T>C (p.Phe201=) rs1300462160
NM_004260.4(RECQL4):c.606G>A (p.Leu202=)
NM_004260.4(RECQL4):c.621C>G (p.Ala207=) rs1554903266
NM_004260.4(RECQL4):c.621C>T (p.Ala207=) rs1554903266
NM_004260.4(RECQL4):c.627G>A (p.Arg209=) rs1586825129
NM_004260.4(RECQL4):c.636A>G (p.Leu212=) rs541402387
NM_004260.4(RECQL4):c.639C>G (p.Gly213=)
NM_004260.4(RECQL4):c.639C>T (p.Gly213=) rs774270003
NM_004260.4(RECQL4):c.63G>A (p.Gln21=)
NM_004260.4(RECQL4):c.645G>A (p.Glu215=) rs550208182
NM_004260.4(RECQL4):c.654A>G (p.Gln218=) rs2130724887
NM_004260.4(RECQL4):c.660G>C (p.Leu220=) rs2130724820
NM_004260.4(RECQL4):c.669T>C (p.Gly223=) rs2130724656
NM_004260.4(RECQL4):c.675G>T (p.Ser225=) rs760733547
NM_004260.4(RECQL4):c.699C>A (p.Gly233=)
NM_004260.4(RECQL4):c.69G>C (p.Gly23=)
NM_004260.4(RECQL4):c.705G>A (p.Gln235=) rs1177971610
NM_004260.4(RECQL4):c.711A>G (p.Pro237=)
NM_004260.4(RECQL4):c.714G>A (p.Glu238=) rs1197708179
NM_004260.4(RECQL4):c.717T>G (p.Ala239=) rs2130723620
NM_004260.4(RECQL4):c.720A>G (p.Ser240=)
NM_004260.4(RECQL4):c.723C>G (p.Ala241=)
NM_004260.4(RECQL4):c.72G>A (p.Arg24=) rs2130745315
NM_004260.4(RECQL4):c.741C>T (p.Ile247=) rs1389538148
NM_004260.4(RECQL4):c.747G>A (p.Val249=) rs770667776
NM_004260.4(RECQL4):c.750G>T (p.Gly250=)
NM_004260.4(RECQL4):c.753C>T (p.Ser251=) rs1202043761
NM_004260.4(RECQL4):c.756C>T (p.Pro252=)
NM_004260.4(RECQL4):c.75A>G (p.Arg25=) rs1815427635
NM_004260.4(RECQL4):c.768C>T (p.Ser256=) rs772714143
NM_004260.4(RECQL4):c.771T>C (p.Ser257=) rs1814985856
NM_004260.4(RECQL4):c.786G>A (p.Arg262=) rs1814982421
NM_004260.4(RECQL4):c.78G>T (p.Pro26=) rs2130745226
NM_004260.4(RECQL4):c.795C>T (p.Asn265=) rs564678543
NM_004260.4(RECQL4):c.801G>T (p.Glu267Asp) rs4244612
NM_004260.4(RECQL4):c.804C>G (p.Pro268=) rs1240656822
NM_004260.4(RECQL4):c.804C>T (p.Pro268=) rs1240656822
NM_004260.4(RECQL4):c.816C>G (p.Pro272=)
NM_004260.4(RECQL4):c.819A>C (p.Ala273=) rs1586823356
NM_004260.4(RECQL4):c.819A>G (p.Ala273=) rs1586823356
NM_004260.4(RECQL4):c.81C>T (p.Ser27=) rs2130745168
NM_004260.4(RECQL4):c.822G>A (p.Gln274=)
NM_004260.4(RECQL4):c.837C>T (p.Ser279=) rs1814966596
NM_004260.4(RECQL4):c.84+10G>T
NM_004260.4(RECQL4):c.84+11C>T
NM_004260.4(RECQL4):c.84+13C>G
NM_004260.4(RECQL4):c.84+17G>T rs794726914
NM_004260.4(RECQL4):c.84+18G>A
NM_004260.4(RECQL4):c.84+7G>A
NM_004260.4(RECQL4):c.84+8C>T
NM_004260.4(RECQL4):c.84+9_84+16del rs2130744877
NM_004260.4(RECQL4):c.845C>G (p.Ala282Gly) rs770138627
NM_004260.4(RECQL4):c.846T>G (p.Ala282=) rs1361365840
NM_004260.4(RECQL4):c.847G>C (p.Gly283Arg)
NM_004260.4(RECQL4):c.849A>G (p.Gly283=) rs1814964291
NM_004260.4(RECQL4):c.85-13G>C rs568000575
NM_004260.4(RECQL4):c.85-16C>T
NM_004260.4(RECQL4):c.85-17A>C rs1008911481
NM_004260.4(RECQL4):c.85-18G>A rs376586915
NM_004260.4(RECQL4):c.85-18G>T
NM_004260.4(RECQL4):c.85-19_85-18delinsCT rs2130744230
NM_004260.4(RECQL4):c.85-26_85-20del rs2130744255
NM_004260.4(RECQL4):c.85-4A>G rs942704068
NM_004260.4(RECQL4):c.85-5T>C rs1815407702
NM_004260.4(RECQL4):c.85-5T>G rs1815407702
NM_004260.4(RECQL4):c.85-8C>G
NM_004260.4(RECQL4):c.852C>G (p.Pro284=)
NM_004260.4(RECQL4):c.855A>G (p.Pro285=) rs781369627
NM_004260.4(RECQL4):c.855A>T (p.Pro285=) rs781369627
NM_004260.4(RECQL4):c.858G>C (p.Ser286=) rs1712693458
NM_004260.4(RECQL4):c.861G>A (p.Glu287=)
NM_004260.4(RECQL4):c.87C>T (p.Asp29=) rs2130743879
NM_004260.4(RECQL4):c.882T>G (p.Val294=)
NM_004260.4(RECQL4):c.885G>A (p.Glu295=)
NM_004260.4(RECQL4):c.906T>C (p.Pro302=) rs747075173
NM_004260.4(RECQL4):c.906T>G (p.Pro302=)
NM_004260.4(RECQL4):c.90C>T (p.Asp30=) rs925971380
NM_004260.4(RECQL4):c.915A>G (p.Ala305=)
NM_004260.4(RECQL4):c.924T>C (p.Pro308=) rs2130719766
NM_004260.4(RECQL4):c.927G>A (p.Gln309=)
NM_004260.4(RECQL4):c.930C>T (p.Pro310=) rs751163976
NM_004260.4(RECQL4):c.933C>T (p.Cys311=) rs1456293772
NM_004260.4(RECQL4):c.936C>T (p.Ser312=) rs2130719466
NM_004260.4(RECQL4):c.942A>G (p.Pro314=) rs567678020
NM_004260.4(RECQL4):c.948C>T (p.Asn316=) rs747324399
NM_004260.4(RECQL4):c.960C>T (p.His320=) rs772329750
NM_004260.4(RECQL4):c.966C>T (p.Leu322=) rs2130718864
NM_004260.4(RECQL4):c.972C>T (p.Pro324=) rs1814923170
NM_004260.4(RECQL4):c.975C>T (p.Ser325=)
NM_004260.4(RECQL4):c.981A>G (p.Gln327=) rs751271908
NM_004260.4(RECQL4):c.984T>C (p.Ala328=)
NM_004260.4(RECQL4):c.996G>A (p.Lys332=) rs1564805921
NM_004260.4(RECQL4):c.9G>A (p.Arg3=) rs2130746610
NM_004380.3(CREBBP):c.1008C>A (p.Pro336=)
NM_004380.3(CREBBP):c.1032C>T (p.Pro344=) rs1439239512
NM_004380.3(CREBBP):c.1090G>C (p.Ala364Pro)
NM_004380.3(CREBBP):c.1092T>C (p.Ala364=)
NM_004380.3(CREBBP):c.1095T>C (p.His365=) rs565069106
NM_004380.3(CREBBP):c.1104G>A (p.Gln368=)
NM_004380.3(CREBBP):c.1119A>T (p.Ala373=)
NM_004380.3(CREBBP):c.1122C>T (p.Asn374=)
NM_004380.3(CREBBP):c.1146C>T (p.Leu382=)
NM_004380.3(CREBBP):c.1155T>C (p.Cys385=)
NM_004380.3(CREBBP):c.1161C>T (p.Thr387=)
NM_004380.3(CREBBP):c.1170C>T (p.Asn390=)
NM_004380.3(CREBBP):c.1188G>A (p.Thr396=)
NM_004380.3(CREBBP):c.1217-16G>A
NM_004380.3(CREBBP):c.1217-16_1217-14del
NM_004380.3(CREBBP):c.1217-17T>C
NM_004380.3(CREBBP):c.1217-19G>A
NM_004380.3(CREBBP):c.1217-20C>T
NM_004380.3(CREBBP):c.1217-4A>G
NM_004380.3(CREBBP):c.1217-7G>A rs2053519519
NM_004380.3(CREBBP):c.1217-7G>T
NM_004380.3(CREBBP):c.1233T>C (p.Ser411=)
NM_004380.3(CREBBP):c.1330+16G>A
NM_004380.3(CREBBP):c.1331-12_1331-9del rs765955245
NM_004380.3(CREBBP):c.1331-17T>C
NM_004380.3(CREBBP):c.1331-24CTGT[2]
NM_004380.3(CREBBP):c.1331-24CTGT[4]
NM_004380.3(CREBBP):c.1331-7G>A
NM_004380.3(CREBBP):c.1338G>T (p.Leu446=)
NM_004380.3(CREBBP):c.1347A>G (p.Pro449=)
NM_004380.3(CREBBP):c.1353T>C (p.Ser451=)
NM_004380.3(CREBBP):c.1416C>T (p.Asn472=)
NM_004380.3(CREBBP):c.1455T>C (p.Tyr485=)
NM_004380.3(CREBBP):c.1493C>T (p.Thr498Met)
NM_004380.3(CREBBP):c.1494G>A (p.Thr498=)
NM_004380.3(CREBBP):c.1500G>A (p.Leu500=)
NM_004380.3(CREBBP):c.1551G>A (p.Gln517=)
NM_004380.3(CREBBP):c.1556G>A (p.Arg519Lys)
NM_004380.3(CREBBP):c.1557G>A (p.Arg519=)
NM_004380.3(CREBBP):c.1566C>T (p.Asn522=)
NM_004380.3(CREBBP):c.1574-14T>C
NM_004380.3(CREBBP):c.1574-15_1574-11del
NM_004380.3(CREBBP):c.1574-17C>A
NM_004380.3(CREBBP):c.1574-17C>G
NM_004380.3(CREBBP):c.1581T>C (p.Asn527=)
NM_004380.3(CREBBP):c.1605A>C (p.Gly535=)
NM_004380.3(CREBBP):c.1614A>G (p.Thr538=)
NM_004380.3(CREBBP):c.165C>A (p.Asn55Lys)
NM_004380.3(CREBBP):c.1665G>T (p.Leu555=)
NM_004380.3(CREBBP):c.1676+11G>C
NM_004380.3(CREBBP):c.1676+13_1676+14insA
NM_004380.3(CREBBP):c.1676+9C>T
NM_004380.3(CREBBP):c.1677-13A>G
NM_004380.3(CREBBP):c.1677-18T>C
NM_004380.3(CREBBP):c.1677-4T>G
NM_004380.3(CREBBP):c.1689C>T (p.Asn563=)
NM_004380.3(CREBBP):c.1728T>C (p.Thr576=)
NM_004380.3(CREBBP):c.1750T>C (p.Ser584Pro)
NM_004380.3(CREBBP):c.175C>T (p.Leu59Phe)
NM_004380.3(CREBBP):c.1824-19_1824-16del
NM_004380.3(CREBBP):c.1824-7C>T
NM_004380.3(CREBBP):c.1824-9T>C
NM_004380.3(CREBBP):c.1863A>G (p.Leu621=)
NM_004380.3(CREBBP):c.189T>C (p.Ala63=)
NM_004380.3(CREBBP):c.1929T>G (p.Ser643=)
NM_004380.3(CREBBP):c.1941+11G>A
NM_004380.3(CREBBP):c.1941+8G>T
NM_004380.3(CREBBP):c.1942-11T>C
NM_004380.3(CREBBP):c.1942-13T>C
NM_004380.3(CREBBP):c.1942-5T>C rs1482514446
NM_004380.3(CREBBP):c.2013G>A (p.Ser671=)
NM_004380.3(CREBBP):c.2013G>T (p.Ser671=)
NM_004380.3(CREBBP):c.2034C>T (p.Ile678=) rs398124141
NM_004380.3(CREBBP):c.204A>G (p.Lys68=)
NM_004380.3(CREBBP):c.2056C>A (p.Pro686Thr)
NM_004380.3(CREBBP):c.2063C>T (p.Pro688Leu) rs375125948
NM_004380.3(CREBBP):c.2064G>C (p.Pro688=)
NM_004380.3(CREBBP):c.2076C>T (p.Pro692=)
NM_004380.3(CREBBP):c.2113+11T>C
NM_004380.3(CREBBP):c.2113+13T>C
NM_004380.3(CREBBP):c.2113+19A>G
NM_004380.3(CREBBP):c.2113+20C>T
NM_004380.3(CREBBP):c.2114-14T>C
NM_004380.3(CREBBP):c.2114-5C>A
NM_004380.3(CREBBP):c.2130G>C (p.Leu710=)
NM_004380.3(CREBBP):c.213G>A (p.Ser71=)
NM_004380.3(CREBBP):c.2158+14T>A
NM_004380.3(CREBBP):c.2158+14T>C
NM_004380.3(CREBBP):c.2158+18G>A
NM_004380.3(CREBBP):c.2158+19T>C
NM_004380.3(CREBBP):c.2159-10A>G
NM_004380.3(CREBBP):c.2159-12G>A
NM_004380.3(CREBBP):c.2159-15T>C
NM_004380.3(CREBBP):c.2159-19G>A
NM_004380.3(CREBBP):c.2159-20C>T
NM_004380.3(CREBBP):c.2160G>A (p.Gly720=)
NM_004380.3(CREBBP):c.2169A>T (p.Ser723=)
NM_004380.3(CREBBP):c.2170T>C (p.Phe724Leu)
NM_004380.3(CREBBP):c.2178C>T (p.Pro726=)
NM_004380.3(CREBBP):c.2224C>T (p.Arg742Cys)
NM_004380.3(CREBBP):c.222A>G (p.Leu74=)
NM_004380.3(CREBBP):c.225A>C (p.Arg75=)
NM_004380.3(CREBBP):c.2283+11T>C
NM_004380.3(CREBBP):c.2283+16C>T
NM_004380.3(CREBBP):c.2283+18C>G
NM_004380.3(CREBBP):c.2284-10_2284-8del
NM_004380.3(CREBBP):c.2284-14T>C
NM_004380.3(CREBBP):c.2284-4G>C
NM_004380.3(CREBBP):c.2284-5C>T
NM_004380.3(CREBBP):c.2284-7C>T
NM_004380.3(CREBBP):c.2303G>A (p.Arg768Gln) rs754386072
NM_004380.3(CREBBP):c.2304A>G (p.Arg768=)
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg) rs147805823
NM_004380.3(CREBBP):c.2347A>G (p.Met783Val)
NM_004380.3(CREBBP):c.234C>T (p.Ser78=)
NM_004380.3(CREBBP):c.235G>A (p.Gly79Ser)
NM_004380.3(CREBBP):c.2360C>T (p.Ala787Val)
NM_004380.3(CREBBP):c.2383_2400dup (p.Pro795_Pro800dup) rs1596895167
NM_004380.3(CREBBP):c.2388G>A (p.Gln796=)
NM_004380.3(CREBBP):c.2415G>C (p.Ala805=)
NM_004380.3(CREBBP):c.2448A>G (p.Gln816=)
NM_004380.3(CREBBP):c.2450C>T (p.Thr817Ile)
NM_004380.3(CREBBP):c.2463+17G>A
NM_004380.3(CREBBP):c.2464-17_2464-16del
NM_004380.3(CREBBP):c.2464-19C>G
NM_004380.3(CREBBP):c.2466A>G (p.Gly822=)
NM_004380.3(CREBBP):c.246C>T (p.Ile82=)
NM_004380.3(CREBBP):c.2495C>A (p.Pro832His)
NM_004380.3(CREBBP):c.2497C>T (p.Leu833Phe)
NM_004380.3(CREBBP):c.24A>G (p.Gly8=)
NM_004380.3(CREBBP):c.2501A>G (p.Asn834Ser)
NM_004380.3(CREBBP):c.2502C>T (p.Asn834=)
NM_004380.3(CREBBP):c.2511G>T (p.Gly837=)
NM_004380.3(CREBBP):c.2520C>T (p.Ala840=)
NM_004380.3(CREBBP):c.2523C>T (p.Ser841=)
NM_004380.3(CREBBP):c.252A>G (p.Pro84=) rs727503893
NM_004380.3(CREBBP):c.2537C>T (p.Pro846Leu)
NM_004380.3(CREBBP):c.2554C>G (p.Pro852Ala)
NM_004380.3(CREBBP):c.2556A>G (p.Pro852=)
NM_004380.3(CREBBP):c.255A>G (p.Gly85=)
NM_004380.3(CREBBP):c.2561A>C (p.His854Pro)
NM_004380.3(CREBBP):c.2571G>A (p.Pro857=)
NM_004380.3(CREBBP):c.2571G>T (p.Pro857=)
NM_004380.3(CREBBP):c.2579C>T (p.Ala860Val)
NM_004380.3(CREBBP):c.258A>G (p.Ile86Met) rs2054819160
NM_004380.3(CREBBP):c.2596A>G (p.Met866Val)
NM_004380.3(CREBBP):c.2601A>G (p.Pro867=)
NM_004380.3(CREBBP):c.2646A>G (p.Pro882=)
NM_004380.3(CREBBP):c.2664A>G (p.Pro888=)
NM_004380.3(CREBBP):c.2670T>G (p.Thr890=)
NM_004380.3(CREBBP):c.2697C>T (p.Pro899=) rs747968181
NM_004380.3(CREBBP):c.2702C>T (p.Pro901Leu)
NM_004380.3(CREBBP):c.2703G>A (p.Pro901=)
NM_004380.3(CREBBP):c.2715A>G (p.Ser905=)
NM_004380.3(CREBBP):c.2728A>T (p.Thr910Ser) rs143247685
NM_004380.3(CREBBP):c.273C>T (p.Ala91=)
NM_004380.3(CREBBP):c.274A>G (p.Ser92Gly)
NM_004380.3(CREBBP):c.2775G>A (p.Gln925=)
NM_004380.3(CREBBP):c.2778G>T (p.Val926=)
NM_004380.3(CREBBP):c.2783C>T (p.Pro928Leu)
NM_004380.3(CREBBP):c.2788C>T (p.Pro930Ser)
NM_004380.3(CREBBP):c.278G>A (p.Ser93Asn)
NM_004380.3(CREBBP):c.2810C>T (p.Pro937Leu)
NM_004380.3(CREBBP):c.282C>T (p.Pro94=)
NM_004380.3(CREBBP):c.283G>A (p.Val95Met) rs756802946
NM_004380.3(CREBBP):c.2847G>A (p.Pro949=)
NM_004380.3(CREBBP):c.2849C>A (p.Thr950Lys)
NM_004380.3(CREBBP):c.2849C>T (p.Thr950Met)
NM_004380.3(CREBBP):c.2851C>A (p.Pro951Thr)
NM_004380.3(CREBBP):c.2854G>T (p.Val952Leu)
NM_004380.3(CREBBP):c.2880+17_2880+18del
NM_004380.3(CREBBP):c.2881-14C>G
NM_004380.3(CREBBP):c.2881-14C>T
NM_004380.3(CREBBP):c.2881-17T>C
NM_004380.3(CREBBP):c.2881-18C>A
NM_004380.3(CREBBP):c.2881-4A>G
NM_004380.3(CREBBP):c.2928C>T (p.Ser976=)
NM_004380.3(CREBBP):c.2930C>T (p.Ser977Leu)
NM_004380.3(CREBBP):c.2934G>T (p.Val978=)
NM_004380.3(CREBBP):c.3003C>T (p.Thr1001=)
NM_004380.3(CREBBP):c.3025G>T (p.Asp1009Tyr)
NM_004380.3(CREBBP):c.3036A>T (p.Glu1012Asp)
NM_004380.3(CREBBP):c.3061-12G>A
NM_004380.3(CREBBP):c.3061-19C>G
NM_004380.3(CREBBP):c.3061-6C>G
NM_004380.3(CREBBP):c.309T>C (p.Ala103=)
NM_004380.3(CREBBP):c.3129A>G (p.Ser1043=)
NM_004380.3(CREBBP):c.3159T>C (p.Pro1053=)
NM_004380.3(CREBBP):c.3214T>G (p.Ser1072Ala)
NM_004380.3(CREBBP):c.3219G>A (p.Gln1073=)
NM_004380.3(CREBBP):c.3223A>G (p.Thr1075Ala)
NM_004380.3(CREBBP):c.3234G>T (p.Ser1078=)
NM_004380.3(CREBBP):c.3250+11T>C
NM_004380.3(CREBBP):c.3250+15C>T
NM_004380.3(CREBBP):c.3250+16A>T
NM_004380.3(CREBBP):c.3250A>T (p.Ile1084Phe)
NM_004380.3(CREBBP):c.3251-13G>A
NM_004380.3(CREBBP):c.3251-19C>T
NM_004380.3(CREBBP):c.3251-21_3251-17del
NM_004380.3(CREBBP):c.3251-8C>G
NM_004380.3(CREBBP):c.3336G>A (p.Arg1112=)
NM_004380.3(CREBBP):c.3370-10T>A
NM_004380.3(CREBBP):c.3370-18C>A
NM_004380.3(CREBBP):c.3370-4del rs75459669
NM_004380.3(CREBBP):c.3370-5_3370-4del rs75459669
NM_004380.3(CREBBP):c.3384C>T (p.Ile1128=)
NM_004380.3(CREBBP):c.3438A>G (p.Gln1146=)
NM_004380.3(CREBBP):c.3468C>T (p.Asp1156=)
NM_004380.3(CREBBP):c.346A>G (p.Ser116Gly) rs587778211
NM_004380.3(CREBBP):c.3516C>T (p.Ser1172=) rs2151383343
NM_004380.3(CREBBP):c.351C>T (p.Ala117=)
NM_004380.3(CREBBP):c.3528G>A (p.Lys1176=)
NM_004380.3(CREBBP):c.3531T>C (p.Phe1177=)
NM_004380.3(CREBBP):c.3573T>C (p.Pro1191=) rs536159666
NM_004380.3(CREBBP):c.3591A>T (p.Gly1197=)
NM_004380.3(CREBBP):c.3609+20C>T
NM_004380.3(CREBBP):c.3610-13T>C
NM_004380.3(CREBBP):c.3610-14C>T
NM_004380.3(CREBBP):c.3615G>A (p.Glu1205=)
NM_004380.3(CREBBP):c.3639C>T (p.Cys1213=)
NM_004380.3(CREBBP):c.3659C>T (p.Thr1220Ile)
NM_004380.3(CREBBP):c.3698+11A>G
NM_004380.3(CREBBP):c.3698+7G>C
NM_004380.3(CREBBP):c.36C>T (p.Pro12=)
NM_004380.3(CREBBP):c.3708C>T (p.Phe1236=)
NM_004380.3(CREBBP):c.3729G>A (p.Glu1243=)
NM_004380.3(CREBBP):c.3749C>A (p.Thr1250Asn)
NM_004380.3(CREBBP):c.375G>A (p.Gln125=)
NM_004380.3(CREBBP):c.3765T>G (p.Pro1255=)
NM_004380.3(CREBBP):c.3774C>G (p.Pro1258=)
NM_004380.3(CREBBP):c.3779+10G>A
NM_004380.3(CREBBP):c.3780-12T>C
NM_004380.3(CREBBP):c.3804A>G (p.Glu1268=)
NM_004380.3(CREBBP):c.3829C>T (p.Pro1277Ser)
NM_004380.3(CREBBP):c.3836+15A>G
NM_004380.3(CREBBP):c.3837-15T>C
NM_004380.3(CREBBP):c.3837-18G>T
NM_004380.3(CREBBP):c.3837-19C>T
NM_004380.3(CREBBP):c.3837-7C>T
NM_004380.3(CREBBP):c.3882C>T (p.Cys1294=)
NM_004380.3(CREBBP):c.3883G>A (p.Val1295Ile)
NM_004380.3(CREBBP):c.390C>T (p.Ala130=)
NM_004380.3(CREBBP):c.3914+11T>A
NM_004380.3(CREBBP):c.3914+11T>G
NM_004380.3(CREBBP):c.3914+13C>T
NM_004380.3(CREBBP):c.3914+20C>T
NM_004380.3(CREBBP):c.3915-12A>G
NM_004380.3(CREBBP):c.3915-14C>A
NM_004380.3(CREBBP):c.3915-15A>G
NM_004380.3(CREBBP):c.3915-17C>T
NM_004380.3(CREBBP):c.3915-20A>C
NM_004380.3(CREBBP):c.3918T>C (p.Phe1306=)
NM_004380.3(CREBBP):c.3925G>A (p.Asp1309Asn)
NM_004380.3(CREBBP):c.3946G>A (p.Gly1316Ser)
NM_004380.3(CREBBP):c.3978T>C (p.Ala1326=) rs2151353919
NM_004380.3(CREBBP):c.3982+14A>C
NM_004380.3(CREBBP):c.3982+15del
NM_004380.3(CREBBP):c.3982+19T>C
NM_004380.3(CREBBP):c.3983-17C>G
NM_004380.3(CREBBP):c.3983-4del
NM_004380.3(CREBBP):c.3983-7T>C
NM_004380.3(CREBBP):c.4011C>T (p.His1337=)
NM_004380.3(CREBBP):c.4062C>T (p.Ala1354=)
NM_004380.3(CREBBP):c.4063G>A (p.Gly1355Arg)
NM_004380.3(CREBBP):c.4068G>A (p.Glu1356=)
NM_004380.3(CREBBP):c.4110G>A (p.Glu1370=)
NM_004380.3(CREBBP):c.4119C>G (p.Pro1373=)
NM_004380.3(CREBBP):c.4133+20A>G
NM_004380.3(CREBBP):c.4133+6TG[4]
NM_004380.3(CREBBP):c.4133+7G>A
NM_004380.3(CREBBP):c.4158T>A (p.Ser1386=)
NM_004380.3(CREBBP):c.4161A>G (p.Glu1387=)
NM_004380.3(CREBBP):c.4170A>G (p.Pro1390=)
NM_004380.3(CREBBP):c.4185T>C (p.Ala1395=)
NM_004380.3(CREBBP):c.4208A>G (p.Asp1403Gly)
NM_004380.3(CREBBP):c.4240G>A (p.Val1414Ile)
NM_004380.3(CREBBP):c.4263C>T (p.Cys1421=)
NM_004380.3(CREBBP):c.4266C>G (p.Pro1422=)
NM_004380.3(CREBBP):c.4277C>T (p.Thr1426Met)
NM_004380.3(CREBBP):c.4278G>A (p.Thr1426=)
NM_004380.3(CREBBP):c.4280+20del
NM_004380.3(CREBBP):c.4281-19A>G
NM_004380.3(CREBBP):c.4296T>G (p.Ser1432=)
NM_004380.3(CREBBP):c.4299T>C (p.Tyr1433=)
NM_004380.3(CREBBP):c.4311T>A (p.Ile1437=)
NM_004380.3(CREBBP):c.4329T>A (p.Arg1443=)
NM_004380.3(CREBBP):c.432C>T (p.Thr144=)
NM_004380.3(CREBBP):c.4332C>T (p.Cys1444=)
NM_004380.3(CREBBP):c.435C>G (p.Pro145=)
NM_004380.3(CREBBP):c.436G>A (p.Ala146Thr)
NM_004380.3(CREBBP):c.4371T>C (p.Tyr1457=)
NM_004380.3(CREBBP):c.4392A>G (p.Leu1464=)
NM_004380.3(CREBBP):c.4394+9G>C
NM_004380.3(CREBBP):c.4395-13G>A
NM_004380.3(CREBBP):c.4395-13G>T rs761012080
NM_004380.3(CREBBP):c.4395-14C>T
NM_004380.3(CREBBP):c.4395-19G>A
NM_004380.3(CREBBP):c.4395-6C>T rs2151330246
NM_004380.3(CREBBP):c.4404A>G (p.Thr1468=)
NM_004380.3(CREBBP):c.441C>T (p.Ala147=)
NM_004380.3(CREBBP):c.4440T>C (p.Asp1480=)
NM_004380.3(CREBBP):c.4452C>T (p.Phe1484=)
NM_004380.3(CREBBP):c.4500G>A (p.Gln1500=)
NM_004380.3(CREBBP):c.451C>G (p.Leu151Val)
NM_004380.3(CREBBP):c.4530G>A (p.Ala1510=)
NM_004380.3(CREBBP):c.4530G>T (p.Ala1510=)
NM_004380.3(CREBBP):c.4548C>T (p.Ile1516=)
NM_004380.3(CREBBP):c.4560+10G>A
NM_004380.3(CREBBP):c.4560+11C>A
NM_004380.3(CREBBP):c.4560+16G>A
NM_004380.3(CREBBP):c.4560+20G>T
NM_004380.3(CREBBP):c.4560+7G>A rs587783498
NM_004380.3(CREBBP):c.4561-20_4561-19del
NM_004380.3(CREBBP):c.4561-7C>T
NM_004380.3(CREBBP):c.4561-9C>T
NM_004380.3(CREBBP):c.4578A>C (p.Ala1526=)
NM_004380.3(CREBBP):c.459G>C (p.Pro153=)
NM_004380.3(CREBBP):c.4623A>G (p.Glu1541=)
NM_004380.3(CREBBP):c.4626T>C (p.Gly1542=)
NM_004380.3(CREBBP):c.463G>A (p.Ala155Thr)
NM_004380.3(CREBBP):c.4641T>C (p.Asn1547=)
NM_004380.3(CREBBP):c.4656C>T (p.Ser1552=)
NM_004380.3(CREBBP):c.4662G>A (p.Lys1554=)
NM_004380.3(CREBBP):c.4683G>A (p.Glu1561=)
NM_004380.3(CREBBP):c.4695G>A (p.Lys1565=)
NM_004380.3(CREBBP):c.4722C>T (p.Thr1574=)
NM_004380.3(CREBBP):c.4728+12T>C
NM_004380.3(CREBBP):c.4728+16_4728+17del
NM_004380.3(CREBBP):c.4728+8C>A
NM_004380.3(CREBBP):c.4729-12G>A
NM_004380.3(CREBBP):c.4729-13C>T
NM_004380.3(CREBBP):c.4729-17C>T
NM_004380.3(CREBBP):c.4729-18C>G
NM_004380.3(CREBBP):c.4731C>T (p.Gly1577=)
NM_004380.3(CREBBP):c.4735C>G (p.Gln1579Glu) rs746079826
NM_004380.3(CREBBP):c.4737G>A (p.Gln1579=)
NM_004380.3(CREBBP):c.4764G>A (p.Lys1588=)
NM_004380.3(CREBBP):c.4778C>G (p.Thr1593Ser)
NM_004380.3(CREBBP):c.4795A>G (p.Ser1599Gly)
NM_004380.3(CREBBP):c.480G>A (p.Gly160=)
NM_004380.3(CREBBP):c.4835A>G (p.Asn1612Ser)
NM_004380.3(CREBBP):c.4836C>T (p.Asn1612=)
NM_004380.3(CREBBP):c.4844A>G (p.Asn1615Ser)
NM_004380.3(CREBBP):c.4861C>T (p.Leu1621=)
NM_004380.3(CREBBP):c.4866T>C (p.Tyr1622=)
NM_004380.3(CREBBP):c.4890+17G>A
NM_004380.3(CREBBP):c.4890+19G>C
NM_004380.3(CREBBP):c.4890+8T>C
NM_004380.3(CREBBP):c.4891-12C>T
NM_004380.3(CREBBP):c.4891-17C>T
NM_004380.3(CREBBP):c.4891-6C>T
NM_004380.3(CREBBP):c.4891-8T>C
NM_004380.3(CREBBP):c.4893C>A (p.Val1631=)
NM_004380.3(CREBBP):c.4899C>T (p.Phe1633=)
NM_004380.3(CREBBP):c.4926C>T (p.Val1642=)
NM_004380.3(CREBBP):c.4929C>T (p.Ile1643=)
NM_004380.3(CREBBP):c.4944C>A (p.Pro1648=) rs375829291
NM_004380.3(CREBBP):c.4959C>T (p.Asp1653=)
NM_004380.3(CREBBP):c.4962C>G (p.Pro1654=)
NM_004380.3(CREBBP):c.4992C>G (p.Arg1664=)
NM_004380.3(CREBBP):c.4995C>T (p.Asp1665=)
NM_004380.3(CREBBP):c.5010C>G (p.Leu1670=)
NM_004380.3(CREBBP):c.5010C>T (p.Leu1670=)
NM_004380.3(CREBBP):c.5034C>T (p.Phe1678=)
NM_004380.3(CREBBP):c.503C>T (p.Thr168Met)
NM_004380.3(CREBBP):c.5049C>T (p.Arg1683=)
NM_004380.3(CREBBP):c.504G>C (p.Thr168=)
NM_004380.3(CREBBP):c.5064G>A (p.Thr1688=)
NM_004380.3(CREBBP):c.5085G>A (p.Leu1695=)
NM_004380.3(CREBBP):c.5091C>G (p.Thr1697=)
NM_004380.3(CREBBP):c.510G>A (p.Gln170=)
NM_004380.3(CREBBP):c.5127G>A (p.Glu1709=)
NM_004380.3(CREBBP):c.5133G>A (p.Lys1711=)
NM_004380.3(CREBBP):c.5139C>T (p.His1713=)
NM_004380.3(CREBBP):c.5148G>A (p.Thr1716=)
NM_004380.3(CREBBP):c.5148G>C (p.Thr1716=) rs376575063
NM_004380.3(CREBBP):c.5163T>C (p.Thr1721=)
NM_004380.3(CREBBP):c.5172+13C>A
NM_004380.3(CREBBP):c.5172+15C>T rs1567265093
NM_004380.3(CREBBP):c.5173-10T>G
NM_004380.3(CREBBP):c.5173-18C>G
NM_004380.3(CREBBP):c.5184C>T (p.Leu1728=) rs759268055
NM_004380.3(CREBBP):c.51C>G (p.Leu17=)
NM_004380.3(CREBBP):c.5205G>A (p.Thr1735=)
NM_004380.3(CREBBP):c.5232G>A (p.Lys1744=) rs1567263707
NM_004380.3(CREBBP):c.5241G>T (p.Leu1747=) rs932933039
NM_004380.3(CREBBP):c.5271C>A (p.Gly1757=)
NM_004380.3(CREBBP):c.527G>C (p.Cys176Ser)
NM_004380.3(CREBBP):c.5283A>G (p.Ser1761=)
NM_004380.3(CREBBP):c.5286G>A (p.Lys1762=)
NM_004380.3(CREBBP):c.529A>G (p.Met177Val)
NM_004380.3(CREBBP):c.5301A>G (p.Ser1767=)
NM_004380.3(CREBBP):c.5334G>T (p.Ser1778=)
NM_004380.3(CREBBP):c.5364C>T (p.Ala1788=)
NM_004380.3(CREBBP):c.5374C>T (p.Leu1792=)
NM_004380.3(CREBBP):c.5403G>A (p.Val1801=)
NM_004380.3(CREBBP):c.5403G>T (p.Val1801=)
NM_004380.3(CREBBP):c.5415C>T (p.Thr1805=)
NM_004380.3(CREBBP):c.5418G>A (p.Lys1806=)
NM_004380.3(CREBBP):c.5439C>T (p.Asn1813=)
NM_004380.3(CREBBP):c.5445C>T (p.Gly1815=)
NM_004380.3(CREBBP):c.5451G>A (p.Pro1817=)
NM_004380.3(CREBBP):c.5469C>T (p.Ile1823=)
NM_004380.3(CREBBP):c.5472C>G (p.Ala1824=)
NM_004380.3(CREBBP):c.552C>A (p.Thr184=)
NM_004380.3(CREBBP):c.5532C>G (p.Leu1844=)
NM_004380.3(CREBBP):c.5571C>T (p.His1857=)
NM_004380.3(CREBBP):c.5592C>A (p.Leu1864=)
NM_004380.3(CREBBP):c.5592C>T (p.Leu1864=)
NM_004380.3(CREBBP):c.569A>G (p.Asn190Ser)
NM_004380.3(CREBBP):c.5715C>A (p.Pro1905=)
NM_004380.3(CREBBP):c.5730A>G (p.Gln1910=)
NM_004380.3(CREBBP):c.5763C>G (p.Phe1921Leu) rs2051845365
NM_004380.3(CREBBP):c.5790C>G (p.Pro1930=)
NM_004380.3(CREBBP):c.5790C>T (p.Pro1930=)
NM_004380.3(CREBBP):c.5799G>A (p.Val1933=)
NM_004380.3(CREBBP):c.5817C>A (p.Thr1939=)
NM_004380.3(CREBBP):c.5841C>T (p.Pro1947=)
NM_004380.3(CREBBP):c.5844G>A (p.Pro1948=)
NM_004380.3(CREBBP):c.5853C>G (p.Pro1951=)
NM_004380.3(CREBBP):c.5859T>C (p.Pro1953=)
NM_004380.3(CREBBP):c.5862A>G (p.Ala1954=)
NM_004380.3(CREBBP):c.5874G>A (p.Ala1958=)
NM_004380.3(CREBBP):c.5877T>C (p.Ala1959=)
NM_004380.3(CREBBP):c.5886C>A (p.Ile1962=) rs370565083
NM_004380.3(CREBBP):c.5887G>A (p.Glu1963Lys)
NM_004380.3(CREBBP):c.5910G>A (p.Gln1970=)
NM_004380.3(CREBBP):c.5910G>T (p.Gln1970His)
NM_004380.3(CREBBP):c.5919C>T (p.Tyr1973=)
NM_004380.3(CREBBP):c.5922G>T (p.Arg1974=)
NM_004380.3(CREBBP):c.5934C>G (p.Asn1978Lys)
NM_004380.3(CREBBP):c.5940C>T (p.Ser1980=)
NM_004380.3(CREBBP):c.5956A>G (p.Thr1986Ala)
NM_004380.3(CREBBP):c.5957C>T (p.Thr1986Met)
NM_004380.3(CREBBP):c.5962A>G (p.Met1988Val)
NM_004380.3(CREBBP):c.5969_5977del (p.Thr1990_Gly1992del) rs777318563
NM_004380.3(CREBBP):c.5997C>T (p.Ser1999=)
NM_004380.3(CREBBP):c.59C>T (p.Pro20Leu)
NM_004380.3(CREBBP):c.6033C>T (p.Pro2011=) rs763241697
NM_004380.3(CREBBP):c.6034G>A (p.Val2012Ile)
NM_004380.3(CREBBP):c.6045C>T (p.Ser2015=)
NM_004380.3(CREBBP):c.6077T>A (p.Leu2026His)
NM_004380.3(CREBBP):c.6102C>T (p.Gly2034=)
NM_004380.3(CREBBP):c.6110G>A (p.Arg2037Lys)
NM_004380.3(CREBBP):c.6130G>A (p.Ala2044Thr)
NM_004380.3(CREBBP):c.6131C>T (p.Ala2044Val)
NM_004380.3(CREBBP):c.6138G>T (p.Ala2046=)
NM_004380.3(CREBBP):c.6144G>A (p.Val2048=)
NM_004380.3(CREBBP):c.615G>A (p.Gln205=)
NM_004380.3(CREBBP):c.6186C>T (p.Ile2062=)
NM_004380.3(CREBBP):c.6215G>A (p.Arg2072Gln)
NM_004380.3(CREBBP):c.6216G>A (p.Arg2072=)
NM_004380.3(CREBBP):c.6237C>T (p.Ser2079=)
NM_004380.3(CREBBP):c.6273A>G (p.Lys2091=)
NM_004380.3(CREBBP):c.6303C>T (p.Ile2101=)
NM_004380.3(CREBBP):c.6315A>G (p.Thr2105=)
NM_004380.3(CREBBP):c.6327G>C (p.Val2109=)
NM_004380.3(CREBBP):c.6339C>T (p.Pro2113=)
NM_004380.3(CREBBP):c.6343A>G (p.Met2115Val)
NM_004380.3(CREBBP):c.6372G>A (p.Gln2124=)
NM_004380.3(CREBBP):c.6375C>G (p.Pro2125=)
NM_004380.3(CREBBP):c.6378C>A (p.Gly2126=)
NM_004380.3(CREBBP):c.6384A>G (p.Gln2128=)
NM_004380.3(CREBBP):c.6391C>T (p.Pro2131Ser)
NM_004380.3(CREBBP):c.6417G>A (p.Leu2139=)
NM_004380.3(CREBBP):c.6419A>G (p.Gln2140Arg)
NM_004380.3(CREBBP):c.6424C>T (p.Leu2142=)
NM_004380.3(CREBBP):c.6432C>T (p.Ala2144=)
NM_004380.3(CREBBP):c.6433A>T (p.Met2145Leu)
NM_004380.3(CREBBP):c.6452G>T (p.Arg2151Leu)
NM_004380.3(CREBBP):c.6453G>C (p.Arg2151=)
NM_004380.3(CREBBP):c.6456C>T (p.Pro2152=)
NM_004380.3(CREBBP):c.6457G>A (p.Gly2153Ser)
NM_004380.3(CREBBP):c.6478G>A (p.Ala2160Thr)
NM_004380.3(CREBBP):c.6480G>A (p.Ala2160=)
NM_004380.3(CREBBP):c.6480G>T (p.Ala2160=)
NM_004380.3(CREBBP):c.6510C>G (p.Ala2170=)
NM_004380.3(CREBBP):c.6510C>T (p.Ala2170=)
NM_004380.3(CREBBP):c.6536A>C (p.Asn2179Thr)
NM_004380.3(CREBBP):c.6548C>T (p.Ala2183Val)
NM_004380.3(CREBBP):c.6585G>A (p.Arg2195=)
NM_004380.3(CREBBP):c.6594G>A (p.Leu2198=)
NM_004380.3(CREBBP):c.6600GCAGCAGCAACA[1] (p.Gln2213_Gln2216del) rs750150018
NM_004380.3(CREBBP):c.6603G>A (p.Gln2201=)
NM_004380.3(CREBBP):c.6612G>A (p.Gln2204=)
NM_004380.3(CREBBP):c.6612GCA[4] (p.Gln2216dup) rs779647460
NM_004380.3(CREBBP):c.6621_6629del (p.Gln2214_Gln2216del) rs727503890
NM_004380.3(CREBBP):c.6621_6644del (p.Gln2209_Gln2216del) rs778507028
NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=) rs142545779
NM_004380.3(CREBBP):c.6627G>A (p.Gln2209=)
NM_004380.3(CREBBP):c.6633A>G (p.Gln2211=)
NM_004380.3(CREBBP):c.6657C>T (p.Ala2219=)
NM_004380.3(CREBBP):c.6669G>C (p.Gly2223=)
NM_004380.3(CREBBP):c.6671G>C (p.Gly2224Ala)
NM_004380.3(CREBBP):c.6745C>T (p.Arg2249Cys)
NM_004380.3(CREBBP):c.6763C>T (p.Pro2255Ser)
NM_004380.3(CREBBP):c.6765C>G (p.Pro2255=)
NM_004380.3(CREBBP):c.6777C>T (p.Ser2259=)
NM_004380.3(CREBBP):c.6834G>A (p.Gly2278=) rs372866305
NM_004380.3(CREBBP):c.6839G>A (p.Gly2280Glu) rs781438241
NM_004380.3(CREBBP):c.6855C>G (p.Pro2285=)
NM_004380.3(CREBBP):c.685C>T (p.Pro229Ser)
NM_004380.3(CREBBP):c.6864G>A (p.Gln2288=)
NM_004380.3(CREBBP):c.6886C>T (p.Leu2296=)
NM_004380.3(CREBBP):c.6888G>C (p.Leu2296=)
NM_004380.3(CREBBP):c.6969A>G (p.Gly2323=)
NM_004380.3(CREBBP):c.6972G>A (p.Gln2324=)
NM_004380.3(CREBBP):c.6990C>T (p.Leu2330=)
NM_004380.3(CREBBP):c.6997C>A (p.Gln2333Lys)
NM_004380.3(CREBBP):c.7005C>T (p.Ile2335=)
NM_004380.3(CREBBP):c.7006G>A (p.Ala2336Thr)
NM_004380.3(CREBBP):c.700G>A (p.Ala234Thr)
NM_004380.3(CREBBP):c.7011G>C (p.Thr2337=)
NM_004380.3(CREBBP):c.702C>T (p.Ala234=)
NM_004380.3(CREBBP):c.7030C>T (p.Arg2344Trp)
NM_004380.3(CREBBP):c.7041C>T (p.Ala2347=)
NM_004380.3(CREBBP):c.7053T>C (p.Ser2351=)
NM_004380.3(CREBBP):c.7062C>T (p.Pro2354=)
NM_004380.3(CREBBP):c.7107C>G (p.Pro2369=)
NM_004380.3(CREBBP):c.712G>A (p.Val238Met) rs146887252
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu) rs146887252
NM_004380.3(CREBBP):c.7146C>T (p.Ser2382=)
NM_004380.3(CREBBP):c.7149C>A (p.Pro2383=)
NM_004380.3(CREBBP):c.7155C>T (p.Pro2385=) rs763948946
NM_004380.3(CREBBP):c.7161C>G (p.Leu2387=)
NM_004380.3(CREBBP):c.7182C>T (p.Ser2394=) rs934317603
NM_004380.3(CREBBP):c.7195C>T (p.His2399Tyr)
NM_004380.3(CREBBP):c.7203G>T (p.Gly2401=)
NM_004380.3(CREBBP):c.7209C>T (p.Pro2403=)
NM_004380.3(CREBBP):c.7230C>T (p.Pro2410=)
NM_004380.3(CREBBP):c.7245C>T (p.Pro2415=) rs1555470758
NM_004380.3(CREBBP):c.7257G>A (p.Ala2419=)
NM_004380.3(CREBBP):c.726C>G (p.Thr242=)
NM_004380.3(CREBBP):c.7292C>T (p.Thr2431Met)
NM_004380.3(CREBBP):c.732G>A (p.Thr244=)
NM_004380.3(CREBBP):c.753T>G (p.Thr251=) rs142403441
NM_004380.3(CREBBP):c.756T>C (p.Gly252=)
NM_004380.3(CREBBP):c.758A>G (p.His253Arg) rs142268920
NM_004380.3(CREBBP):c.761C>T (p.Ala254Val)
NM_004380.3(CREBBP):c.775G>T (p.Ala259Ser)
NM_004380.3(CREBBP):c.782C>T (p.Ala261Val)
NM_004380.3(CREBBP):c.799-18A>T
NM_004380.3(CREBBP):c.799-19del rs2141347625
NM_004380.3(CREBBP):c.80G>A (p.Ser27Asn)
NM_004380.3(CREBBP):c.810T>C (p.Thr270=)
NM_004380.3(CREBBP):c.813G>T (p.Gly271=)
NM_004380.3(CREBBP):c.85+11G>A
NM_004380.3(CREBBP):c.85+13_85+28del
NM_004380.3(CREBBP):c.85+14C>T
NM_004380.3(CREBBP):c.85+16G>A
NM_004380.3(CREBBP):c.85+7_85+13del
NM_004380.3(CREBBP):c.858G>A (p.Gln286=)
NM_004380.3(CREBBP):c.86-20C>A
NM_004380.3(CREBBP):c.927C>G (p.Thr309=) rs575297081
NM_004380.3(CREBBP):c.927C>T (p.Thr309=) rs575297081
NM_004380.3(CREBBP):c.934A>G (p.Thr312Ala)
NM_004380.3(CREBBP):c.941T>C (p.Ile314Thr)
NM_004380.3(CREBBP):c.942C>G (p.Ile314Met)
NM_004380.3(CREBBP):c.964G>A (p.Val322Met)
NM_004380.3(CREBBP):c.966G>A (p.Val322=)
NM_004380.3(CREBBP):c.969A>G (p.Pro323=)
NM_004380.3(CREBBP):c.975+11C>T
NM_004380.3(CREBBP):c.975+9C>A
NM_004380.3(CREBBP):c.976-12G>T
NM_004380.3(CREBBP):c.976-20A>G
NM_004380.3(CREBBP):c.976-4T>G
NM_004380.3(CREBBP):c.976-6T>C
NM_004380.3(CREBBP):c.987A>G (p.Gln329=) rs778596455
NM_004380.3(CREBBP):c.993A>C (p.Ser331=)
NM_004380.3(CREBBP):c.998G>A (p.Gly333Glu) rs2053548814
NM_005105.5(RBM8A):c.127+19G>A
NM_005105.5(RBM8A):c.128-14dup
NM_005105.5(RBM8A):c.128-17G>C
NM_005105.5(RBM8A):c.128-20C>T
NM_005105.5(RBM8A):c.128-7C>T rs190827695
NM_005105.5(RBM8A):c.135G>T (p.Gly45=)
NM_005105.5(RBM8A):c.138C>T (p.Ser46=)
NM_005105.5(RBM8A):c.177G>A (p.Gln59=)
NM_005105.5(RBM8A):c.206-14C>G
NM_005105.5(RBM8A):c.206-18C>G
NM_005105.5(RBM8A):c.206-20T>A
NM_005105.5(RBM8A):c.255C>T (p.Thr85=)
NM_005105.5(RBM8A):c.279C>T (p.Phe93=)
NM_005105.5(RBM8A):c.337C>T (p.Leu113=)
NM_005105.5(RBM8A):c.342+8_342+11del
NM_005105.5(RBM8A):c.343-13T>C
NM_005105.5(RBM8A):c.343-17C>T
NM_005105.5(RBM8A):c.343-19G>C
NM_005105.5(RBM8A):c.343-4C>A
NM_005105.5(RBM8A):c.345G>A (p.Gly115=)
NM_005105.5(RBM8A):c.45C>T (p.Phe15=)
NM_005105.5(RBM8A):c.479+12A>G
NM_005105.5(RBM8A):c.479+17A>C
NM_005105.5(RBM8A):c.480-12_480-10del
NM_005105.5(RBM8A):c.480-5C>T
NM_005105.5(RBM8A):c.480-8T>G
NM_005105.5(RBM8A):c.67+11T>C
NM_005105.5(RBM8A):c.67+13G>A
NM_005105.5(RBM8A):c.67+17C>T
NM_005105.5(RBM8A):c.68-15C>G
NM_005105.5(RBM8A):c.68-15C>T
NM_005105.5(RBM8A):c.68-17A>G
NM_005105.5(RBM8A):c.68-18T>C
NM_005105.5(RBM8A):c.68-4C>T rs782317229
NM_005105.5(RBM8A):c.69G>A (p.Glu23=)
NM_005105.5(RBM8A):c.6G>C (p.Ala2=)
NM_005515.4(MNX1):c.1059C>A (p.Asp353Glu)
NM_005515.4(MNX1):c.164G>C (p.Ser55Thr)
NM_005515.4(MNX1):c.298GGC[5] (p.Gly105del) rs757330807
NM_005515.4(MNX1):c.375CGC[6] (p.Ala132_Ala134del) rs548755417
NM_005515.4(MNX1):c.950_973del (p.Gly317_Gly324del)
NM_006492.3(ALX3):c.662G>A (p.Arg221Gln)
NM_006494.4(ERF):c.1104TTC[3] (p.Ser373del) rs199960550
NM_006494.4(ERF):c.1143G>A (p.Pro381=)
NM_006494.4(ERF):c.1143G>T (p.Pro381=)
NM_006494.4(ERF):c.1191C>T (p.Ala397=)
NM_006494.4(ERF):c.1245G>A (p.Ala415=)
NM_006494.4(ERF):c.1335T>C (p.Asp445=)
NM_006494.4(ERF):c.1386A>G (p.Ala462=)
NM_006494.4(ERF):c.1602C>T (p.Leu534=) rs2146947253
NM_006494.4(ERF):c.1611C>A (p.Ala537=)
NM_006494.4(ERF):c.23-9C>T
NM_006494.4(ERF):c.234C>T (p.Tyr78=)
NM_006494.4(ERF):c.258-12C>G
NM_006494.4(ERF):c.374-16G>A
NM_006494.4(ERF):c.408G>T (p.Pro136=)
NM_006494.4(ERF):c.453G>A (p.Glu151=)
NM_006494.4(ERF):c.477C>A (p.Pro159=)
NM_006494.4(ERF):c.565T>G (p.Cys189Gly)
NM_006494.4(ERF):c.597G>A (p.Pro199=) rs778540681
NM_006494.4(ERF):c.762C>T (p.Ala254=)
NM_006494.4(ERF):c.813G>A (p.Thr271=) rs367694248
NM_006494.4(ERF):c.823C>T (p.Leu275=)
NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1]) rs548231613
NM_006766.5(KAT6A):c.5383G>A (p.Ala1795Thr)
NM_006766.5(KAT6A):c.5525C>G (p.Thr1842Arg) rs886037914
NM_006766.5(KAT6A):c.5600C>G (p.Ala1867Gly)
NM_006766.5(KAT6A):c.5884G>A (p.Ala1962Thr)
NM_006766.5(KAT6A):c.593A>C (p.Lys198Thr)
NM_012330.4(KAT6B):c.1002A>C (p.Ile334=)
NM_012330.4(KAT6B):c.1017A>G (p.Ala339=)
NM_012330.4(KAT6B):c.1026T>C (p.Ile342=)
NM_012330.4(KAT6B):c.1030C>A (p.Arg344=)
NM_012330.4(KAT6B):c.1035G>A (p.Pro345=)
NM_012330.4(KAT6B):c.1061+13C>A
NM_012330.4(KAT6B):c.1061+20A>C
NM_012330.4(KAT6B):c.1062-14A>G rs1256928128
NM_012330.4(KAT6B):c.1062-16C>G rs886038587
NM_012330.4(KAT6B):c.1073G>A (p.Ser358Asn)
NM_012330.4(KAT6B):c.1098C>T (p.Phe366=)
NM_012330.4(KAT6B):c.1107G>A (p.Arg369=)
NM_012330.4(KAT6B):c.1170A>T (p.Ala390=)
NM_012330.4(KAT6B):c.1188C>T (p.Ser396=)
NM_012330.4(KAT6B):c.1227C>T (p.Ala409=)
NM_012330.4(KAT6B):c.1242C>T (p.Thr414=)
NM_012330.4(KAT6B):c.1251C>T (p.Ser417=)
NM_012330.4(KAT6B):c.1278_1283del (p.Lys426_Val427del) rs760375622
NM_012330.4(KAT6B):c.1308T>C (p.Asp436=)
NM_012330.4(KAT6B):c.1311C>G (p.Gly437=)
NM_012330.4(KAT6B):c.1404C>T (p.Val468=)
NM_012330.4(KAT6B):c.1416G>A (p.Gln472=)
NM_012330.4(KAT6B):c.1491A>G (p.Pro497=)
NM_012330.4(KAT6B):c.1494C>T (p.Thr498=)
NM_012330.4(KAT6B):c.1497C>T (p.Pro499=)
NM_012330.4(KAT6B):c.1503C>T (p.Ser501=)
NM_012330.4(KAT6B):c.1512C>T (p.Ser504=)
NM_012330.4(KAT6B):c.1533C>T (p.Ser511=)
NM_012330.4(KAT6B):c.1551C>T (p.Pro517=)
NM_012330.4(KAT6B):c.1557C>G (p.Pro519=)
NM_012330.4(KAT6B):c.1568C>G (p.Ser523Cys)
NM_012330.4(KAT6B):c.1584G>A (p.Val528=)
NM_012330.4(KAT6B):c.1646A>C (p.His549Pro) rs755919401
NM_012330.4(KAT6B):c.1662G>A (p.Gln554=) rs1315521603
NM_012330.4(KAT6B):c.1686C>T (p.His562=)
NM_012330.4(KAT6B):c.1695T>C (p.Tyr565=)
NM_012330.4(KAT6B):c.1728A>G (p.Glu576=)
NM_012330.4(KAT6B):c.1788G>T (p.Arg596=)
NM_012330.4(KAT6B):c.1794T>C (p.Ile598=)
NM_012330.4(KAT6B):c.1800C>T (p.His600=)
NM_012330.4(KAT6B):c.1815C>T (p.Ser605=)
NM_012330.4(KAT6B):c.1827T>C (p.Ala609=)
NM_012330.4(KAT6B):c.1851T>G (p.Ile617Met) rs1842148699
NM_012330.4(KAT6B):c.1887C>T (p.His629=) rs886038588
NM_012330.4(KAT6B):c.1899C>T (p.Gly633=)
NM_012330.4(KAT6B):c.1911T>C (p.Tyr637=)
NM_012330.4(KAT6B):c.1917G>A (p.Val639=)
NM_012330.4(KAT6B):c.1932G>A (p.Gly644=)
NM_012330.4(KAT6B):c.1935C>A (p.Thr645=)
NM_012330.4(KAT6B):c.1957T>C (p.Leu653=) rs2133732795
NM_012330.4(KAT6B):c.1965C>T (p.Asp655=)
NM_012330.4(KAT6B):c.1974T>A (p.Ile658=)
NM_012330.4(KAT6B):c.1983T>A (p.Asp661Glu)
NM_012330.4(KAT6B):c.1989T>C (p.Asp663=)
NM_012330.4(KAT6B):c.198A>G (p.Lys66=)
NM_012330.4(KAT6B):c.1994-18G>A
NM_012330.4(KAT6B):c.1994-8A>C
NM_012330.4(KAT6B):c.1998T>C (p.Thr666=)
NM_012330.4(KAT6B):c.2109T>G (p.Ser703=)
NM_012330.4(KAT6B):c.2115+10G>A
NM_012330.4(KAT6B):c.2116-11C>G
NM_012330.4(KAT6B):c.2116-5G>A
NM_012330.4(KAT6B):c.2211T>C (p.Pro737=)
NM_012330.4(KAT6B):c.2220G>A (p.Gln740=)
NM_012330.4(KAT6B):c.222A>G (p.Pro74=)
NM_012330.4(KAT6B):c.2231+13G>A
NM_012330.4(KAT6B):c.2232-16T>A rs2133796597
NM_012330.4(KAT6B):c.2232-6dup rs1326976101
NM_012330.4(KAT6B):c.2238A>C (p.Pro746=)
NM_012330.4(KAT6B):c.2280T>C (p.Ser760=)
NM_012330.4(KAT6B):c.228C>T (p.Asn76=)
NM_012330.4(KAT6B):c.2328T>A (p.Pro776=)
NM_012330.4(KAT6B):c.2373+6C>T rs192506542
NM_012330.4(KAT6B):c.2373+8C>T
NM_012330.4(KAT6B):c.2373+9G>C
NM_012330.4(KAT6B):c.2374-11C>G
NM_012330.4(KAT6B):c.2421A>G (p.Leu807=)
NM_012330.4(KAT6B):c.2469A>T (p.Pro823=)
NM_012330.4(KAT6B):c.2490A>G (p.Thr830=)
NM_012330.4(KAT6B):c.2495A>T (p.Asn832Ile)
NM_012330.4(KAT6B):c.2496T>C (p.Asn832=)
NM_012330.4(KAT6B):c.2514T>C (p.His838=)
NM_012330.4(KAT6B):c.2515C>T (p.Leu839=)
NM_012330.4(KAT6B):c.2535+10G>A
NM_012330.4(KAT6B):c.2535+16G>C
NM_012330.4(KAT6B):c.2536-13C>T
NM_012330.4(KAT6B):c.2568C>T (p.Ser856=)
NM_012330.4(KAT6B):c.2630-11T>C
NM_012330.4(KAT6B):c.2655C>A (p.Gly885=)
NM_012330.4(KAT6B):c.2676G>A (p.Lys892=)
NM_012330.4(KAT6B):c.2724C>T (p.Ser908=)
NM_012330.4(KAT6B):c.2725G>A (p.Val909Ile)
NM_012330.4(KAT6B):c.2727C>T (p.Val909=) rs2134153879
NM_012330.4(KAT6B):c.2730C>T (p.Ile910=) rs1845330653
NM_012330.4(KAT6B):c.2750A>G (p.His917Arg)
NM_012330.4(KAT6B):c.2790G>A (p.Ala930=)
NM_012330.4(KAT6B):c.2790G>T (p.Ala930=) rs765834987
NM_012330.4(KAT6B):c.27T>C (p.Tyr9=)
NM_012330.4(KAT6B):c.2861+15C>G
NM_012330.4(KAT6B):c.2861+20G>C
NM_012330.4(KAT6B):c.2861+8C>G
NM_012330.4(KAT6B):c.2862-10C>T
NM_012330.4(KAT6B):c.2862-11T>C
NM_012330.4(KAT6B):c.2862-13_2862-11del rs768625046
NM_012330.4(KAT6B):c.2883A>G (p.Glu961=)
NM_012330.4(KAT6B):c.2893T>C (p.Leu965=)
NM_012330.4(KAT6B):c.2901C>T (p.His967=)
NM_012330.4(KAT6B):c.291A>G (p.Gly97=)
NM_012330.4(KAT6B):c.2925C>T (p.Ser975=)
NM_012330.4(KAT6B):c.2931C>T (p.Ala977=)
NM_012330.4(KAT6B):c.2963C>A (p.Thr988Asn)
NM_012330.4(KAT6B):c.2997A>G (p.Glu999=)
NM_012330.4(KAT6B):c.3021+13T>G
NM_012330.4(KAT6B):c.3021+16A>G
NM_012330.4(KAT6B):c.3021+17T>C
NM_012330.4(KAT6B):c.3021+20T>A
NM_012330.4(KAT6B):c.3072A>G (p.Glu1024=)
NM_012330.4(KAT6B):c.3102A>G (p.Gln1034=)
NM_012330.4(KAT6B):c.3123G>A (p.Ser1041=)
NM_012330.4(KAT6B):c.3136T>C (p.Leu1046=)
NM_012330.4(KAT6B):c.3155G>C (p.Arg1052Pro)
NM_012330.4(KAT6B):c.3165A>C (p.Thr1055=)
NM_012330.4(KAT6B):c.3183G>C (p.Leu1061=)
NM_012330.4(KAT6B):c.318T>C (p.Asp106=)
NM_012330.4(KAT6B):c.3192G>A (p.Leu1064=)
NM_012330.4(KAT6B):c.3210AGA[2] (p.Glu1076del) rs765976563
NM_012330.4(KAT6B):c.3219GGA[3] (p.Glu1076del) rs776286375
NM_012330.4(KAT6B):c.3228_3242del (p.Asp1077_Glu1081del)
NM_012330.4(KAT6B):c.3234GGA[2] (p.Glu1089del)
NM_012330.4(KAT6B):c.3234_3245del (p.Glu1086_Glu1089del)
NM_012330.4(KAT6B):c.3237G>A (p.Glu1079=)
NM_012330.4(KAT6B):c.3240GGAAGAAGAGGA[3] (p.Glu1086_Glu1089dup) rs201769534
NM_012330.4(KAT6B):c.3243A>G (p.Glu1081=)
NM_012330.4(KAT6B):c.3249GGA[1] (p.Glu1089del) rs555280405
NM_012330.4(KAT6B):c.3252G>A (p.Glu1084=)
NM_012330.4(KAT6B):c.3252_3290dup (p.Glu1102_Glu1103insAspGluGluGluGluGluGluGluGluGluGluGluGlu)
NM_012330.4(KAT6B):c.3258_3266del (p.Glu1087_Glu1089del)
NM_012330.4(KAT6B):c.3261G>A (p.Glu1087=)
NM_012330.4(KAT6B):c.3261_3269del (p.Glu1087_Glu1089del)
NM_012330.4(KAT6B):c.3270_3278del (p.Asp1090_Glu1092del) rs771834072
NM_012330.4(KAT6B):c.3279G>A (p.Glu1093=)
NM_012330.4(KAT6B):c.3279GGAAGAAGA[1] (p.Glu1102_Glu1104del)
NM_012330.4(KAT6B):c.3282A>G (p.Glu1094=)
NM_012330.4(KAT6B):c.3285A>G (p.Glu1095=)
NM_012330.4(KAT6B):c.3288_3293del (p.Glu1103_Glu1104del)
NM_012330.4(KAT6B):c.3288_3299del (p.Glu1101_Glu1104del)
NM_012330.4(KAT6B):c.3289GAA[10] (p.Glu1103_Glu1104dup) rs71929101
NM_012330.4(KAT6B):c.3289GAA[6] (p.Glu1103_Glu1104del) rs71929101
NM_012330.4(KAT6B):c.3289GAA[9] (p.Glu1104dup) rs71929101
NM_012330.4(KAT6B):c.3291A>G (p.Glu1097=)
NM_012330.4(KAT6B):c.3293_3294insGGATGAAGAGGAGGA (p.Glu1098_Glu1099insAspGluGluGluGlu)
NM_012330.4(KAT6B):c.3294A>G (p.Glu1098=)
NM_012330.4(KAT6B):c.3297A>G (p.Glu1099=)
NM_012330.4(KAT6B):c.3300A>G (p.Glu1100=)
NM_012330.4(KAT6B):c.3303A>G (p.Glu1101=)
NM_012330.4(KAT6B):c.3330C>T (p.Pro1110=)
NM_012330.4(KAT6B):c.3341C>T (p.Thr1114Met) rs755451488
NM_012330.4(KAT6B):c.3351G>A (p.Gln1117=)
NM_012330.4(KAT6B):c.3360C>T (p.Ala1120=)
NM_012330.4(KAT6B):c.3366G>A (p.Lys1122=) rs1400519520
NM_012330.4(KAT6B):c.3372+11G>A
NM_012330.4(KAT6B):c.3372+7G>T rs2134170626
NM_012330.4(KAT6B):c.3373-13G>A
NM_012330.4(KAT6B):c.3373-18G>A
NM_012330.4(KAT6B):c.3373-20A>G
NM_012330.4(KAT6B):c.3456G>A (p.Thr1152=)
NM_012330.4(KAT6B):c.3489A>G (p.Ser1163=) rs2134197611
NM_012330.4(KAT6B):c.3510A>G (p.Pro1170=)
NM_012330.4(KAT6B):c.3513G>A (p.Gln1171=)
NM_012330.4(KAT6B):c.3534T>C (p.Ile1178=) rs2134198072
NM_012330.4(KAT6B):c.3636T>C (p.His1212=)
NM_012330.4(KAT6B):c.3664+14T>A
NM_012330.4(KAT6B):c.3664+18A>G
NM_012330.4(KAT6B):c.3665-10C>T
NM_012330.4(KAT6B):c.3665-20G>A
NM_012330.4(KAT6B):c.3665-20del
NM_012330.4(KAT6B):c.366T>C (p.Asn122=)
NM_012330.4(KAT6B):c.3690C>T (p.Asn1230=) rs2134232667
NM_012330.4(KAT6B):c.3702C>T (p.Gly1234=)
NM_012330.4(KAT6B):c.3717C>G (p.Pro1239=) rs147746065
NM_012330.4(KAT6B):c.3768A>G (p.Leu1256=)
NM_012330.4(KAT6B):c.3828G>T (p.Pro1276=)
NM_012330.4(KAT6B):c.3834A>G (p.Glu1278=)
NM_012330.4(KAT6B):c.3837A>G (p.Thr1279=) rs766315089
NM_012330.4(KAT6B):c.3852C>T (p.Asp1284=)
NM_012330.4(KAT6B):c.3918G>A (p.Arg1306=)
NM_012330.4(KAT6B):c.3923AGG[2] (p.Glu1310del)
NM_012330.4(KAT6B):c.3942T>C (p.Thr1314=)
NM_012330.4(KAT6B):c.3952C>T (p.Leu1318=)
NM_012330.4(KAT6B):c.3954G>A (p.Leu1318=)
NM_012330.4(KAT6B):c.3972C>T (p.Asn1324=)
NM_012330.4(KAT6B):c.3992C>G (p.Ala1331Gly)
NM_012330.4(KAT6B):c.4041C>G (p.Leu1347=)
NM_012330.4(KAT6B):c.4056AGAGGA[1] (p.Glu1367_Glu1368del)
NM_012330.4(KAT6B):c.4062_4064del (p.Glu1368del) rs772530975
NM_012330.4(KAT6B):c.4065GGA[2] (p.Glu1366_Glu1368del)
NM_012330.4(KAT6B):c.4065GGA[3] (p.Glu1367_Glu1368del) rs367634881
NM_012330.4(KAT6B):c.4065GGA[4] (p.Glu1368del) rs367634881
NM_012330.4(KAT6B):c.4065GGA[6] (p.Glu1368dup) rs367634881
NM_012330.4(KAT6B):c.4071G>A (p.Glu1357=)
NM_012330.4(KAT6B):c.4074G>A (p.Glu1358=)
NM_012330.4(KAT6B):c.4079AAGAGGAAG[2] (p.Glu1366_Glu1368del) rs375513122
NM_012330.4(KAT6B):c.4086A>G (p.Glu1362=) rs1564631023
NM_012330.4(KAT6B):c.4101_4103del (p.Glu1368del) rs2134237417
NM_012330.4(KAT6B):c.4109AAG[3] (p.Glu1373del) rs751483850
NM_012330.4(KAT6B):c.4113A>G (p.Glu1371=)
NM_012330.4(KAT6B):c.4116A>G (p.Glu1372=)
NM_012330.4(KAT6B):c.411T>C (p.Ser137=)
NM_012330.4(KAT6B):c.4155T>C (p.Ala1385=)
NM_012330.4(KAT6B):c.4170A>G (p.Lys1390=)
NM_012330.4(KAT6B):c.4188C>T (p.Ser1396=)
NM_012330.4(KAT6B):c.4190C>G (p.Thr1397Arg) rs201038511
NM_012330.4(KAT6B):c.4191G>A (p.Thr1397=)
NM_012330.4(KAT6B):c.4230GGA[2] (p.Glu1414del) rs745314195
NM_012330.4(KAT6B):c.4242G>A (p.Glu1414=)
NM_012330.4(KAT6B):c.4284C>T (p.Asp1428=)
NM_012330.4(KAT6B):c.4357C>T (p.Leu1453=)
NM_012330.4(KAT6B):c.4359G>A (p.Leu1453=)
NM_012330.4(KAT6B):c.4377T>C (p.Phe1459=)
NM_012330.4(KAT6B):c.4392_4393delinsAA (p.Gln1465Lys) rs2134240240
NM_012330.4(KAT6B):c.441C>G (p.Ala147=)
NM_012330.4(KAT6B):c.4437C>T (p.Val1479=)
NM_012330.4(KAT6B):c.4443G>A (p.Leu1481=)
NM_012330.4(KAT6B):c.4488T>G (p.Pro1496=) rs2134241045
NM_012330.4(KAT6B):c.4509C>T (p.Asp1503=)
NM_012330.4(KAT6B):c.451C>A (p.Arg151=)
NM_012330.4(KAT6B):c.4536A>T (p.Ala1512=)
NM_012330.4(KAT6B):c.4563G>A (p.Lys1521=)
NM_012330.4(KAT6B):c.4566A>G (p.Glu1522=)
NM_012330.4(KAT6B):c.4569C>T (p.Val1523=) rs1390141952
NM_012330.4(KAT6B):c.4575A>G (p.Thr1525=)
NM_012330.4(KAT6B):c.4596A>G (p.Pro1532=)
NM_012330.4(KAT6B):c.4602C>T (p.Thr1534=)
NM_012330.4(KAT6B):c.4623T>C (p.Thr1541=)
NM_012330.4(KAT6B):c.462G>A (p.Leu154=)
NM_012330.4(KAT6B):c.4632C>G (p.Ala1544=)
NM_012330.4(KAT6B):c.4644G>A (p.Leu1548=)
NM_012330.4(KAT6B):c.4668C>T (p.Asp1556=)
NM_012330.4(KAT6B):c.466G>A (p.Ala156Thr)
NM_012330.4(KAT6B):c.4689C>A (p.Ala1563=) rs766030818
NM_012330.4(KAT6B):c.4689C>T (p.Ala1563=)
NM_012330.4(KAT6B):c.4727C>A (p.Thr1576Asn)
NM_012330.4(KAT6B):c.4737C>T (p.Asp1579=)
NM_012330.4(KAT6B):c.474C>T (p.Arg158=)
NM_012330.4(KAT6B):c.4755C>T (p.Ala1585=)
NM_012330.4(KAT6B):c.4758C>G (p.Thr1586=)
NM_012330.4(KAT6B):c.4762C>T (p.Leu1588Phe)
NM_012330.4(KAT6B):c.4764C>T (p.Leu1588=)
NM_012330.4(KAT6B):c.477T>C (p.Ala159=)
NM_012330.4(KAT6B):c.4806C>T (p.Ser1602=)
NM_012330.4(KAT6B):c.4812C>T (p.His1604=)
NM_012330.4(KAT6B):c.4831G>A (p.Val1611Ile)
NM_012330.4(KAT6B):c.4885A>G (p.Ile1629Val)
NM_012330.4(KAT6B):c.48T>C (p.Ala16=)
NM_012330.4(KAT6B):c.4908C>T (p.Ile1636=)
NM_012330.4(KAT6B):c.4921C>T (p.Leu1641=)
NM_012330.4(KAT6B):c.4956C>T (p.Val1652=)
NM_012330.4(KAT6B):c.4977A>G (p.Ser1659=) rs2134245049
NM_012330.4(KAT6B):c.4987G>A (p.Val1663Ile) rs777433819
NM_012330.4(KAT6B):c.4989A>G (p.Val1663=) rs1337079744
NM_012330.4(KAT6B):c.5026A>T (p.Thr1676Ser)
NM_012330.4(KAT6B):c.5040C>T (p.Tyr1680=)
NM_012330.4(KAT6B):c.5052C>T (p.Ser1684=)
NM_012330.4(KAT6B):c.5076C>T (p.Gly1692=)
NM_012330.4(KAT6B):c.5091C>T (p.Asn1697=)
NM_012330.4(KAT6B):c.5095T>G (p.Ser1699Ala)
NM_012330.4(KAT6B):c.513G>A (p.Gln171=)
NM_012330.4(KAT6B):c.5187C>T (p.Ser1729=)
NM_012330.4(KAT6B):c.5203C>T (p.Leu1735=)
NM_012330.4(KAT6B):c.5208G>A (p.Gln1736=)
NM_012330.4(KAT6B):c.5214C>T (p.Thr1738=)
NM_012330.4(KAT6B):c.5235C>T (p.Thr1745=)
NM_012330.4(KAT6B):c.5241C>T (p.Ser1747=)
NM_012330.4(KAT6B):c.5260T>G (p.Cys1754Gly) rs2134247487
NM_012330.4(KAT6B):c.5280G>T (p.Pro1760=)
NM_012330.4(KAT6B):c.5298G>A (p.Leu1766=) rs2134247976
NM_012330.4(KAT6B):c.5335A>G (p.Met1779Val)
NM_012330.4(KAT6B):c.5357A>C (p.Glu1786Ala)
NM_012330.4(KAT6B):c.5367C>T (p.Asn1789=)
NM_012330.4(KAT6B):c.5371A>G (p.Asn1791Asp)
NM_012330.4(KAT6B):c.5388G>A (p.Glu1796=)
NM_012330.4(KAT6B):c.5423A>G (p.Tyr1808Cys)
NM_012330.4(KAT6B):c.5427G>A (p.Pro1809=)
NM_012330.4(KAT6B):c.5427G>T (p.Pro1809=) rs370396484
NM_012330.4(KAT6B):c.5454C>G (p.Ala1818=) rs1027643241
NM_012330.4(KAT6B):c.5476A>G (p.Thr1826Ala)
NM_012330.4(KAT6B):c.5493A>G (p.Ser1831=)
NM_012330.4(KAT6B):c.54G>A (p.Gln18=)
NM_012330.4(KAT6B):c.5507A>G (p.His1836Arg)
NM_012330.4(KAT6B):c.552A>C (p.Ala184=)
NM_012330.4(KAT6B):c.5556A>G (p.Pro1852=)
NM_012330.4(KAT6B):c.5559A>G (p.Leu1853=)
NM_012330.4(KAT6B):c.5602G>A (p.Val1868Ile)
NM_012330.4(KAT6B):c.5604C>T (p.Val1868=)
NM_012330.4(KAT6B):c.5646C>A (p.Pro1882=) rs1846229052
NM_012330.4(KAT6B):c.5660C>T (p.Pro1887Leu)
NM_012330.4(KAT6B):c.5676G>A (p.Pro1892=)
NM_012330.4(KAT6B):c.5693G>A (p.Arg1898Gln)
NM_012330.4(KAT6B):c.5704G>A (p.Ala1902Thr)
NM_012330.4(KAT6B):c.5706A>G (p.Ala1902=)
NM_012330.4(KAT6B):c.570A>G (p.Ala190=)
NM_012330.4(KAT6B):c.5733A>G (p.Gln1911=)
NM_012330.4(KAT6B):c.573C>G (p.Phe191Leu)
NM_012330.4(KAT6B):c.5754C>T (p.Ala1918=)
NM_012330.4(KAT6B):c.579C>A (p.Ser193=)
NM_012330.4(KAT6B):c.5805C>T (p.Ala1935=)
NM_012330.4(KAT6B):c.5806G>C (p.Ala1936Pro)
NM_012330.4(KAT6B):c.582G>A (p.Ser194=)
NM_012330.4(KAT6B):c.5837G>T (p.Arg1946Leu)
NM_012330.4(KAT6B):c.5870G>A (p.Arg1957Gln)
NM_012330.4(KAT6B):c.5880G>A (p.Thr1960=)
NM_012330.4(KAT6B):c.5949C>T (p.Asn1983=)
NM_012330.4(KAT6B):c.5962A>G (p.Thr1988Ala) rs1846260900
NM_012330.4(KAT6B):c.5992T>C (p.Ser1998Pro)
NM_012330.4(KAT6B):c.6018C>T (p.Tyr2006=)
NM_012330.4(KAT6B):c.6041A>G (p.Asn2014Ser)
NM_012330.4(KAT6B):c.6072G>A (p.Gln2024=)
NM_012330.4(KAT6B):c.6086G>A (p.Gly2029Asp)
NM_012330.4(KAT6B):c.6092A>G (p.Gln2031Arg)
NM_012330.4(KAT6B):c.6141G>A (p.Met2047Ile)
NM_012330.4(KAT6B):c.6152C>G (p.Pro2051Arg)
NM_012330.4(KAT6B):c.615A>G (p.Lys205=)
NM_012330.4(KAT6B):c.6171G>C (p.Met2057Ile)
NM_012330.4(KAT6B):c.6186C>G (p.Ser2062=)
NM_012330.4(KAT6B):c.6198C>T (p.Leu2066=)
NM_012330.4(KAT6B):c.621+17T>C
NM_012330.4(KAT6B):c.621+7G>A
NM_012330.4(KAT6B):c.622-10T>G
NM_012330.4(KAT6B):c.622-7G>A rs751195432
NM_012330.4(KAT6B):c.622C>T (p.Pro208Ser)
NM_012330.4(KAT6B):c.625C>G (p.Arg209Gly)
NM_012330.4(KAT6B):c.658T>C (p.Leu220=)
NM_012330.4(KAT6B):c.66G>A (p.Lys22=) rs748479485
NM_012330.4(KAT6B):c.680G>A (p.Arg227His)
NM_012330.4(KAT6B):c.730+15T>C rs2133520898
NM_012330.4(KAT6B):c.731-10A>T
NM_012330.4(KAT6B):c.731-14T>C
NM_012330.4(KAT6B):c.731-4A>G rs1342415990
NM_012330.4(KAT6B):c.735C>T (p.His245=)
NM_012330.4(KAT6B):c.741C>T (p.Ser247=)
NM_012330.4(KAT6B):c.763T>C (p.Leu255=)
NM_012330.4(KAT6B):c.768A>G (p.Thr256=)
NM_012330.4(KAT6B):c.774T>C (p.Asn258=)
NM_012330.4(KAT6B):c.804A>G (p.Glu268=)
NM_012330.4(KAT6B):c.813A>C (p.Thr271=)
NM_012330.4(KAT6B):c.846+10G>T
NM_012330.4(KAT6B):c.846+14C>T
NM_012330.4(KAT6B):c.847-18T>C
NM_012330.4(KAT6B):c.848A>G (p.Asp283Gly)
NM_012330.4(KAT6B):c.869C>G (p.Ser290Cys)
NM_012330.4(KAT6B):c.881G>A (p.Gly294Glu)
NM_012330.4(KAT6B):c.894A>G (p.Glu298=)
NM_012330.4(KAT6B):c.928+21_928+26del
NM_012330.4(KAT6B):c.928+7T>C
NM_012330.4(KAT6B):c.929-10A>G
NM_012330.4(KAT6B):c.929-16A>G
NM_012330.4(KAT6B):c.929-18AT[6]
NM_012330.4(KAT6B):c.930G>T (p.Gly310=)
NM_012330.4(KAT6B):c.978A>C (p.Leu326=)
NM_012330.4(KAT6B):c.999A>G (p.Gln333=)
NM_015631.6(TCTN3):c.1008C>A (p.Ile336=)
NM_015631.6(TCTN3):c.1008C>T (p.Ile336=) rs747888353
NM_015631.6(TCTN3):c.1027T>C (p.Leu343=) rs2097946417
NM_015631.6(TCTN3):c.1029G>A (p.Leu343=)
NM_015631.6(TCTN3):c.1059C>A (p.Gly353=)
NM_015631.6(TCTN3):c.1065C>G (p.Ser355=)
NM_015631.6(TCTN3):c.1065C>T (p.Ser355=) rs2139742208
NM_015631.6(TCTN3):c.1077C>T (p.His359=)
NM_015631.6(TCTN3):c.1096-12del
NM_015631.6(TCTN3):c.1096-17C>G
NM_015631.6(TCTN3):c.1096-17C>T
NM_015631.6(TCTN3):c.1096-5T>G
NM_015631.6(TCTN3):c.1104A>G (p.Gln368=)
NM_015631.6(TCTN3):c.114G>T (p.Leu38=) rs1027956965
NM_015631.6(TCTN3):c.1164G>A (p.Gly388=) rs759892719
NM_015631.6(TCTN3):c.1164G>C (p.Gly388=) rs759892719
NM_015631.6(TCTN3):c.1203+18G>A rs1353637039
NM_015631.6(TCTN3):c.1203+20G>A
NM_015631.6(TCTN3):c.1204-14C>T
NM_015631.6(TCTN3):c.120A>G (p.Arg40=)
NM_015631.6(TCTN3):c.1212C>T (p.Leu404=)
NM_015631.6(TCTN3):c.1296C>T (p.Leu432=) rs368389310
NM_015631.6(TCTN3):c.1298+12C>T
NM_015631.6(TCTN3):c.1298+8T>C
NM_015631.6(TCTN3):c.1298+8T>G
NM_015631.6(TCTN3):c.1298+9T>A
NM_015631.6(TCTN3):c.1299-14G>A
NM_015631.6(TCTN3):c.1299-15G>A rs1589614065
NM_015631.6(TCTN3):c.1299-17A>G
NM_015631.6(TCTN3):c.1299-18C>T rs2097944406
NM_015631.6(TCTN3):c.1299-4A>G
NM_015631.6(TCTN3):c.1311A>C (p.Ala437=) rs2139737404
NM_015631.6(TCTN3):c.132C>T (p.Gly44=)
NM_015631.6(TCTN3):c.1347T>A (p.Thr449=)
NM_015631.6(TCTN3):c.1353T>C (p.His451=)
NM_015631.6(TCTN3):c.1359G>A (p.Arg453=)
NM_015631.6(TCTN3):c.1365A>G (p.Arg455=)
NM_015631.6(TCTN3):c.138C>T (p.Thr46=) rs887435654
NM_015631.6(TCTN3):c.1440C>T (p.His480=) rs753883610
NM_015631.6(TCTN3):c.1467T>C (p.Thr489=)
NM_015631.6(TCTN3):c.1492C>T (p.Leu498=)
NM_015631.6(TCTN3):c.1497G>A (p.Glu499=) rs2139731591
NM_015631.6(TCTN3):c.1503G>A (p.Gln501=)
NM_015631.6(TCTN3):c.1548T>C (p.His516=)
NM_015631.6(TCTN3):c.1551A>G (p.Val517=)
NM_015631.6(TCTN3):c.1569A>C (p.Leu523=) rs201367852
NM_015631.6(TCTN3):c.1590+14C>T
NM_015631.6(TCTN3):c.1590+15A>T rs781078051
NM_015631.6(TCTN3):c.1590+8A>G
NM_015631.6(TCTN3):c.1591-7C>G
NM_015631.6(TCTN3):c.1596T>C (p.Ser532=)
NM_015631.6(TCTN3):c.159G>T (p.Ala53=) rs540555381
NM_015631.6(TCTN3):c.1602A>G (p.Gln534=)
NM_015631.6(TCTN3):c.1608A>G (p.Thr536=)
NM_015631.6(TCTN3):c.162T>A (p.Thr54=)
NM_015631.6(TCTN3):c.162T>C (p.Thr54=)
NM_015631.6(TCTN3):c.1650C>T (p.Thr550=) rs2097923995
NM_015631.6(TCTN3):c.165A>C (p.Ala55=)
NM_015631.6(TCTN3):c.1680C>G (p.Pro560=)
NM_015631.6(TCTN3):c.1704C>T (p.Phe568=)
NM_015631.6(TCTN3):c.1716C>T (p.Pro572=) rs2097923946
NM_015631.6(TCTN3):c.1758C>T (p.Cys586=)
NM_015631.6(TCTN3):c.1779C>A (p.Ile593=)
NM_015631.6(TCTN3):c.1792C>T (p.Leu598=)
NM_015631.6(TCTN3):c.1809C>T (p.Asn603=)
NM_015631.6(TCTN3):c.1812A>G (p.Leu604=)
NM_015631.6(TCTN3):c.18C>G (p.Leu6=) rs879694012
NM_015631.6(TCTN3):c.198G>A (p.Val66=)
NM_015631.6(TCTN3):c.201C>T (p.Val67=)
NM_015631.6(TCTN3):c.219C>T (p.Pro73=)
NM_015631.6(TCTN3):c.21G>C (p.Ala7=)
NM_015631.6(TCTN3):c.228T>G (p.Pro76=)
NM_015631.6(TCTN3):c.256+11A>G
NM_015631.6(TCTN3):c.256+14T>C
NM_015631.6(TCTN3):c.256+7G>T
NM_015631.6(TCTN3):c.257-13C>G
NM_015631.6(TCTN3):c.257-13C>T rs768606622
NM_015631.6(TCTN3):c.257-22_257-19del rs1426583967
NM_015631.6(TCTN3):c.25C>T (p.Leu9=)
NM_015631.6(TCTN3):c.261A>G (p.Leu87=)
NM_015631.6(TCTN3):c.264G>T (p.Pro88=)
NM_015631.6(TCTN3):c.27G>A (p.Leu9=) rs973353630
NM_015631.6(TCTN3):c.27G>T (p.Leu9=) rs973353630
NM_015631.6(TCTN3):c.315C>T (p.Cys105=)
NM_015631.6(TCTN3):c.321G>A (p.Arg107=)
NM_015631.6(TCTN3):c.348A>C (p.Thr116=)
NM_015631.6(TCTN3):c.380+16C>A
NM_015631.6(TCTN3):c.380+16C>T
NM_015631.6(TCTN3):c.380+17A>G
NM_015631.6(TCTN3):c.381-13T>A
NM_015631.6(TCTN3):c.381-17C>T rs1317078515
NM_015631.6(TCTN3):c.381-18C>T
NM_015631.6(TCTN3):c.381-9T>C
NM_015631.6(TCTN3):c.402A>T (p.Val134=)
NM_015631.6(TCTN3):c.40C>T (p.Leu14=)
NM_015631.6(TCTN3):c.420C>T (p.Phe140=)
NM_015631.6(TCTN3):c.435G>A (p.Pro145=) rs769335959
NM_015631.6(TCTN3):c.444A>G (p.Ser148=)
NM_015631.6(TCTN3):c.45G>T (p.Val15=)
NM_015631.6(TCTN3):c.480T>C (p.Phe160=)
NM_015631.6(TCTN3):c.489T>C (p.His163=)
NM_015631.6(TCTN3):c.500-14A>T
NM_015631.6(TCTN3):c.500-19del
NM_015631.6(TCTN3):c.501A>G (p.Ser167=)
NM_015631.6(TCTN3):c.513T>C (p.Tyr171=) rs2139750906
NM_015631.6(TCTN3):c.51C>G (p.Pro17=) rs1482900802
NM_015631.6(TCTN3):c.51C>T (p.Pro17=)
NM_015631.6(TCTN3):c.540A>G (p.Ala180=)
NM_015631.6(TCTN3):c.57C>T (p.Gly19=)
NM_015631.6(TCTN3):c.585C>T (p.Phe195=)
NM_015631.6(TCTN3):c.615A>G (p.Pro205=) rs1247615743
NM_015631.6(TCTN3):c.628-10T>C
NM_015631.6(TCTN3):c.628-12T>C
NM_015631.6(TCTN3):c.628-14T>C
NM_015631.6(TCTN3):c.628-4T>C rs1321301372
NM_015631.6(TCTN3):c.657C>T (p.Pro219=)
NM_015631.6(TCTN3):c.675C>T (p.Ser225=) rs2097949322
NM_015631.6(TCTN3):c.6C>A (p.Arg2=)
NM_015631.6(TCTN3):c.736+18G>A
NM_015631.6(TCTN3):c.736+19T>C
NM_015631.6(TCTN3):c.737-18del
NM_015631.6(TCTN3):c.770G>A (p.Arg257His) rs758733887
NM_015631.6(TCTN3):c.774T>C (p.Phe258=)
NM_015631.6(TCTN3):c.783C>T (p.Asn261=)
NM_015631.6(TCTN3):c.78C>T (p.Ser26=)
NM_015631.6(TCTN3):c.801C>T (p.Thr267=)
NM_015631.6(TCTN3):c.813C>A (p.Ala271=)
NM_015631.6(TCTN3):c.837C>T (p.Asn279=)
NM_015631.6(TCTN3):c.843A>G (p.Thr281=)
NM_015631.6(TCTN3):c.847T>C (p.Leu283=) rs2139748578
NM_015631.6(TCTN3):c.852+7G>A rs1275344078
NM_015631.6(TCTN3):c.852+9_852+10dup
NM_015631.6(TCTN3):c.888+13T>C
NM_015631.6(TCTN3):c.888+14G>T rs2139747034
NM_015631.6(TCTN3):c.888+18C>A
NM_015631.6(TCTN3):c.934T>C (p.Leu312=)
NM_015631.6(TCTN3):c.959T>C (p.Val320Ala) rs546805063
NM_015631.6(TCTN3):c.960A>G (p.Val320=)
NM_015631.6(TCTN3):c.969+17C>T rs2139744560
NM_015631.6(TCTN3):c.969+18A>C
NM_015631.6(TCTN3):c.969+19_969+37del
NM_015631.6(TCTN3):c.970-15C>A rs773472275
NM_015631.6(TCTN3):c.970-15C>G rs773472275
NM_015631.6(TCTN3):c.993T>C (p.Asn331=) rs1273105227
NM_015631.6(TCTN3):c.999T>G (p.Thr333=)
NM_015631.6(TCTN3):c.9C>T (p.Thr3=)
NM_015693.4(INTU):c.1450-9T>G rs73847044
NM_015693.4(INTU):c.683-16G>C rs56223823
NM_016277.5(RAB23):c.105A>G (p.Thr35=) rs576194133
NM_016277.5(RAB23):c.108A>G (p.Lys36=)
NM_016277.5(RAB23):c.114C>T (p.Tyr38=) rs888229513
NM_016277.5(RAB23):c.126T>C (p.Ile42=)
NM_016277.5(RAB23):c.12A>G (p.Glu4=)
NM_016277.5(RAB23):c.132T>G (p.Val44=) rs2128004147
NM_016277.5(RAB23):c.135T>C (p.Asp45=)
NM_016277.5(RAB23):c.139T>C (p.Leu47=)
NM_016277.5(RAB23):c.155+11G>A
NM_016277.5(RAB23):c.155+11G>C
NM_016277.5(RAB23):c.155+17T>C
NM_016277.5(RAB23):c.155+8C>T rs2128004127
NM_016277.5(RAB23):c.156-14A>G
NM_016277.5(RAB23):c.156-20_156-17del
NM_016277.5(RAB23):c.156-8T>C rs1593221684
NM_016277.5(RAB23):c.156-8T>G
NM_016277.5(RAB23):c.156-9T>C rs1380069219
NM_016277.5(RAB23):c.156-9_156-8del
NM_016277.5(RAB23):c.165T>C (p.Asp55=)
NM_016277.5(RAB23):c.177A>G (p.Arg59=)
NM_016277.5(RAB23):c.186A>G (p.Leu62=) rs2128002898
NM_016277.5(RAB23):c.207G>A (p.Glu69=)
NM_016277.5(RAB23):c.21A>G (p.Glu7=)
NM_016277.5(RAB23):c.234C>T (p.Tyr78=) rs2128002860
NM_016277.5(RAB23):c.241+10A>G rs2128002855
NM_016277.5(RAB23):c.241+16T>G
NM_016277.5(RAB23):c.242-17_242-16insATTC
NM_016277.5(RAB23):c.242-20G>C
NM_016277.5(RAB23):c.242-31ATTG[3]
NM_016277.5(RAB23):c.242-31ATTG[4] rs45542438
NM_016277.5(RAB23):c.242-6T>C rs2127998723
NM_016277.5(RAB23):c.242-7C>T
NM_016277.5(RAB23):c.261C>G (p.Leu87=) rs764774207
NM_016277.5(RAB23):c.261C>T (p.Leu87=) rs764774207
NM_016277.5(RAB23):c.273C>G (p.Thr91=)
NM_016277.5(RAB23):c.273C>T (p.Thr91=)
NM_016277.5(RAB23):c.279T>C (p.Asp93=)
NM_016277.5(RAB23):c.27C>T (p.Ala9=)
NM_016277.5(RAB23):c.285A>G (p.Glu95=) rs2127998702
NM_016277.5(RAB23):c.312A>G (p.Arg104=)
NM_016277.5(RAB23):c.321A>C (p.Val107=)
NM_016277.5(RAB23):c.33G>A (p.Lys11=)
NM_016277.5(RAB23):c.357G>A (p.Val119=)
NM_016277.5(RAB23):c.376C>T (p.Leu126=)
NM_016277.5(RAB23):c.387T>C (p.Ser129=) rs1593210265
NM_016277.5(RAB23):c.390T>C (p.Cys130=) rs2127998627
NM_016277.5(RAB23):c.398+18G>A
NM_016277.5(RAB23):c.398+9G>T rs376839366
NM_016277.5(RAB23):c.399-15T>A
NM_016277.5(RAB23):c.399-7T>C
NM_016277.5(RAB23):c.399-9G>T rs1764963102
NM_016277.5(RAB23):c.429A>G (p.Leu143=) rs1186623990
NM_016277.5(RAB23):c.435A>G (p.Leu145=) rs2127998004
NM_016277.5(RAB23):c.450A>G (p.Thr150=)
NM_016277.5(RAB23):c.453A>C (p.Ser151=)
NM_016277.5(RAB23):c.474G>A (p.Val158=)
NM_016277.5(RAB23):c.481+16del
NM_016277.5(RAB23):c.481+18del
NM_016277.5(RAB23):c.481+19A>G
NM_016277.5(RAB23):c.481+7T>A rs2127997989
NM_016277.5(RAB23):c.481+8A>C rs2127997988
NM_016277.5(RAB23):c.482-10T>C
NM_016277.5(RAB23):c.482-12T>G
NM_016277.5(RAB23):c.482-14T>G
NM_016277.5(RAB23):c.482-20G>A
NM_016277.5(RAB23):c.482-20del
NM_016277.5(RAB23):c.482-7A>G rs1221714796
NM_016277.5(RAB23):c.482-8T>G rs1303194537
NM_016277.5(RAB23):c.48G>A (p.Gly16=)
NM_016277.5(RAB23):c.48G>T (p.Gly16=)
NM_016277.5(RAB23):c.495G>A (p.Leu165=)
NM_016277.5(RAB23):c.4T>C (p.Leu2=) rs1593223928
NM_016277.5(RAB23):c.507C>T (p.Tyr169=) rs1593207365
NM_016277.5(RAB23):c.510T>C (p.Leu170=) rs1764929463
NM_016277.5(RAB23):c.525A>G (p.Gln175=)
NM_016277.5(RAB23):c.528A>G (p.Gln176=)
NM_016277.5(RAB23):c.549A>G (p.Leu183=) rs2127997659
NM_016277.5(RAB23):c.551C>T (p.Thr184Met) rs140295281
NM_016277.5(RAB23):c.552G>C (p.Thr184=) rs201731610
NM_016277.5(RAB23):c.552G>T (p.Thr184=)
NM_016277.5(RAB23):c.574+20T>G
NM_016277.5(RAB23):c.574+7A>G
NM_016277.5(RAB23):c.575-12C>A
NM_016277.5(RAB23):c.575-15C>T
NM_016277.5(RAB23):c.575-5T>A
NM_016277.5(RAB23):c.575-7T>A rs2127996399
NM_016277.5(RAB23):c.575-8_575-5dup rs1429640163
NM_016277.5(RAB23):c.576T>G (p.Gly192=) rs2127996390
NM_016277.5(RAB23):c.57A>C (p.Ala19=)
NM_016277.5(RAB23):c.60T>G (p.Val20=) rs2128004188
NM_016277.5(RAB23):c.642C>T (p.Val214=) rs1593204004
NM_016277.5(RAB23):c.90C>T (p.Cys30=)
NM_016653.3(MAP3K20):c.1360-14_1360-9del rs150855284
NM_017617.5(NOTCH1):c.1005C>A (p.Asn335Lys)
NM_017617.5(NOTCH1):c.1014C>T (p.Asp338=)
NM_017617.5(NOTCH1):c.1045A>C (p.Thr349Pro) rs200520088
NM_017617.5(NOTCH1):c.1047C>T (p.Thr349=)
NM_017617.5(NOTCH1):c.1058G>A (p.Arg353His)
NM_017617.5(NOTCH1):c.1059T>C (p.Arg353=)
NM_017617.5(NOTCH1):c.105G>C (p.Gly35=)
NM_017617.5(NOTCH1):c.1062G>C (p.Val354=)
NM_017617.5(NOTCH1):c.1068C>T (p.Ser356=)
NM_017617.5(NOTCH1):c.1099+14G>A
NM_017617.5(NOTCH1):c.1100-16G>A rs146815871
NM_017617.5(NOTCH1):c.1100-17C>G
NM_017617.5(NOTCH1):c.1100-17C>T rs373481386
NM_017617.5(NOTCH1):c.1100-4C>T rs1297218175
NM_017617.5(NOTCH1):c.1110C>T (p.Cys370=)
NM_017617.5(NOTCH1):c.1125A>C (p.Ala375=) rs371954544
NM_017617.5(NOTCH1):c.1131C>T (p.Ile377=)
NM_017617.5(NOTCH1):c.1179T>C (p.Asn393=)
NM_017617.5(NOTCH1):c.117G>A (p.Ala39=)
NM_017617.5(NOTCH1):c.1212C>T (p.Tyr404=)
NM_017617.5(NOTCH1):c.1218C>G (p.Gly406=)
NM_017617.5(NOTCH1):c.1251G>A (p.Ser417=)
NM_017617.5(NOTCH1):c.1251G>C (p.Ser417=)
NM_017617.5(NOTCH1):c.1255+10dup
NM_017617.5(NOTCH1):c.1255+13dup
NM_017617.5(NOTCH1):c.1255+14C>T
NM_017617.5(NOTCH1):c.1255+19G>A
NM_017617.5(NOTCH1):c.1255+19G>T
NM_017617.5(NOTCH1):c.1255+20G>T
NM_017617.5(NOTCH1):c.1256-10C>T
NM_017617.5(NOTCH1):c.1256-13G>T
NM_017617.5(NOTCH1):c.1256-15G>T
NM_017617.5(NOTCH1):c.1256-16C>T
NM_017617.5(NOTCH1):c.1256-6C>T
NM_017617.5(NOTCH1):c.1256-8C>G rs1052776009
NM_017617.5(NOTCH1):c.1256-9C>G rs1401233481
NM_017617.5(NOTCH1):c.1256-9C>T
NM_017617.5(NOTCH1):c.1266C>A (p.Pro422=) rs762533002
NM_017617.5(NOTCH1):c.1334C>T (p.Thr445Met)
NM_017617.5(NOTCH1):c.1371C>T (p.Val457=) rs1463940681
NM_017617.5(NOTCH1):c.1373C>T (p.Ser458Leu)
NM_017617.5(NOTCH1):c.1374G>A (p.Ser458=) rs886039016
NM_017617.5(NOTCH1):c.1386G>A (p.Gln462=) rs2133368484
NM_017617.5(NOTCH1):c.140+11C>A
NM_017617.5(NOTCH1):c.140+14C>T
NM_017617.5(NOTCH1):c.140+15T>G
NM_017617.5(NOTCH1):c.140+18G>A
NM_017617.5(NOTCH1):c.140+20del rs751297042
NM_017617.5(NOTCH1):c.140+9C>G
NM_017617.5(NOTCH1):c.141-11T>C
NM_017617.5(NOTCH1):c.1428C>T (p.Cys476=)
NM_017617.5(NOTCH1):c.1441+11C>A rs376506127
NM_017617.5(NOTCH1):c.1441+11del
NM_017617.5(NOTCH1):c.1442-11C>G
NM_017617.5(NOTCH1):c.1442-11C>T
NM_017617.5(NOTCH1):c.1442-12C>T rs1241878638
NM_017617.5(NOTCH1):c.1442-17_1442-16del
NM_017617.5(NOTCH1):c.1447G>A (p.Glu483Lys)
NM_017617.5(NOTCH1):c.1467C>G (p.Val489=)
NM_017617.5(NOTCH1):c.1482T>C (p.Cys494=)
NM_017617.5(NOTCH1):c.1527C>T (p.Ile509=) rs2133367383
NM_017617.5(NOTCH1):c.1530T>C (p.Asn510=)
NM_017617.5(NOTCH1):c.1543G>A (p.Glu515Lys) rs749085650
NM_017617.5(NOTCH1):c.1551C>A (p.Pro517=)
NM_017617.5(NOTCH1):c.1555+11C>T
NM_017617.5(NOTCH1):c.1555+13C>G
NM_017617.5(NOTCH1):c.1555+16G>T
NM_017617.5(NOTCH1):c.1555+17C>T rs760877301
NM_017617.5(NOTCH1):c.1556-17C>A
NM_017617.5(NOTCH1):c.1556-19C>G
NM_017617.5(NOTCH1):c.1556-19C>T rs970722201
NM_017617.5(NOTCH1):c.1556-20C>G rs1268079353
NM_017617.5(NOTCH1):c.1556-23TCCCC[2]
NM_017617.5(NOTCH1):c.1556-23TCCCC[4] rs747100045
NM_017617.5(NOTCH1):c.1556-23_1556-20del
NM_017617.5(NOTCH1):c.1556-4C>T rs2133365542
NM_017617.5(NOTCH1):c.1556-8G>T rs776434236
NM_017617.5(NOTCH1):c.1567C>T (p.His523Tyr) rs572103199
NM_017617.5(NOTCH1):c.1570C>T (p.Leu524=)
NM_017617.5(NOTCH1):c.1591G>A (p.Glu531Lys)
NM_017617.5(NOTCH1):c.1599C>A (p.Ala533=) rs1304388033
NM_017617.5(NOTCH1):c.1652C>T (p.Thr551Ile)
NM_017617.5(NOTCH1):c.1669+18C>T
NM_017617.5(NOTCH1):c.1669+9_1669+10inv
NM_017617.5(NOTCH1):c.1670-10_1670-9inv
NM_017617.5(NOTCH1):c.1670-11C>T
NM_017617.5(NOTCH1):c.1670-20C>T
NM_017617.5(NOTCH1):c.168A>G (p.Arg56=)
NM_017617.5(NOTCH1):c.1695G>A (p.Val565=)
NM_017617.5(NOTCH1):c.1701C>A (p.Ile567=) rs773932034
NM_017617.5(NOTCH1):c.1702G>A (p.Asp568Asn) rs562413261
NM_017617.5(NOTCH1):c.1713C>T (p.Asp571=)
NM_017617.5(NOTCH1):c.1719C>T (p.Asp573=)
NM_017617.5(NOTCH1):c.1726C>T (p.His576Tyr)
NM_017617.5(NOTCH1):c.1740C>T (p.Cys580=)
NM_017617.5(NOTCH1):c.1741A>G (p.Lys581Glu) rs778992111
NM_017617.5(NOTCH1):c.1752C>T (p.Val584=) rs902251832
NM_017617.5(NOTCH1):c.1755C>T (p.Ala585=)
NM_017617.5(NOTCH1):c.1756A>C (p.Thr586Pro) rs764854903
NM_017617.5(NOTCH1):c.1770C>G (p.Leu590=) rs949220276
NM_017617.5(NOTCH1):c.1794C>T (p.His598=) rs1261287469
NM_017617.5(NOTCH1):c.1809C>T (p.Asn603=)
NM_017617.5(NOTCH1):c.1821C>T (p.Cys607=)
NM_017617.5(NOTCH1):c.1830G>A (p.Gln610=) rs2133363599
NM_017617.5(NOTCH1):c.1833C>G (p.Pro611=)
NM_017617.5(NOTCH1):c.1848C>A (p.Gly616=)
NM_017617.5(NOTCH1):c.1851C>T (p.Thr617=) rs761199261
NM_017617.5(NOTCH1):c.1857G>A (p.Gln619=)
NM_017617.5(NOTCH1):c.186G>A (p.Pro62=) rs374320445
NM_017617.5(NOTCH1):c.1892A>C (p.Lys631Thr)
NM_017617.5(NOTCH1):c.1897A>T (p.Thr633Ser)
NM_017617.5(NOTCH1):c.1899C>G (p.Thr633=)
NM_017617.5(NOTCH1):c.189C>T (p.Cys63=)
NM_017617.5(NOTCH1):c.1903+14C>G
NM_017617.5(NOTCH1):c.1903+15G>C
NM_017617.5(NOTCH1):c.1903+7G>A rs760116150
NM_017617.5(NOTCH1):c.1903+7G>T rs760116150
NM_017617.5(NOTCH1):c.1904-10A>C
NM_017617.5(NOTCH1):c.1904-15G>A
NM_017617.5(NOTCH1):c.1904-16C>A
NM_017617.5(NOTCH1):c.1904-16C>T rs775848413
NM_017617.5(NOTCH1):c.1904-17A>C
NM_017617.5(NOTCH1):c.1904-20G>A
NM_017617.5(NOTCH1):c.1904-20G>C
NM_017617.5(NOTCH1):c.1904-9C>T rs2133362915
NM_017617.5(NOTCH1):c.1911C>T (p.Asn637=)
NM_017617.5(NOTCH1):c.1915G>A (p.Glu639Lys)
NM_017617.5(NOTCH1):c.1923C>T (p.Asn641=)
NM_017617.5(NOTCH1):c.1959C>A (p.Gly653=) rs776402525
NM_017617.5(NOTCH1):c.1961C>T (p.Thr654Ile) rs765651994
NM_017617.5(NOTCH1):c.1966C>T (p.Leu656=) rs776930100
NM_017617.5(NOTCH1):c.1971C>T (p.Asp657=) rs1843246881
NM_017617.5(NOTCH1):c.1977C>T (p.Ile659=) rs766577980
NM_017617.5(NOTCH1):c.2014+10C>A rs1589065951
NM_017617.5(NOTCH1):c.2014+10C>T
NM_017617.5(NOTCH1):c.2014+11C>T rs1348123089
NM_017617.5(NOTCH1):c.2014+17G>A
NM_017617.5(NOTCH1):c.2014+17G>T
NM_017617.5(NOTCH1):c.2014+20G>A
NM_017617.5(NOTCH1):c.2014+8G>A
NM_017617.5(NOTCH1):c.2015-10C>T
NM_017617.5(NOTCH1):c.2015-11C>T
NM_017617.5(NOTCH1):c.2015-13G>C rs772867940
NM_017617.5(NOTCH1):c.2015-5C>G
NM_017617.5(NOTCH1):c.2015-8G>A
NM_017617.5(NOTCH1):c.201C>A (p.Pro67=) rs764636339
NM_017617.5(NOTCH1):c.2026A>T (p.Asn676Tyr)
NM_017617.5(NOTCH1):c.2033A>G (p.Asn678Ser)
NM_017617.5(NOTCH1):c.2056C>T (p.Pro686Ser)
NM_017617.5(NOTCH1):c.2076C>T (p.Thr692=)
NM_017617.5(NOTCH1):c.2083G>T (p.Asp695Tyr) rs767162403
NM_017617.5(NOTCH1):c.2103C>A (p.Thr701=)
NM_017617.5(NOTCH1):c.2103C>G (p.Thr701=)
NM_017617.5(NOTCH1):c.2118G>A (p.Glu706=)
NM_017617.5(NOTCH1):c.2172C>G (p.Pro724=)
NM_017617.5(NOTCH1):c.2181C>T (p.His727=)
NM_017617.5(NOTCH1):c.2207+19C>G
NM_017617.5(NOTCH1):c.2208-10C>T
NM_017617.5(NOTCH1):c.2208-11C>G
NM_017617.5(NOTCH1):c.2208-14G>C
NM_017617.5(NOTCH1):c.2218G>T (p.Asp740Tyr)
NM_017617.5(NOTCH1):c.2244C>A (p.Thr748=) rs1344101185
NM_017617.5(NOTCH1):c.2291A>G (p.Asn764Ser) rs1454630791
NM_017617.5(NOTCH1):c.2296G>A (p.Gly766Ser)
NM_017617.5(NOTCH1):c.2318G>T (p.Ser773Ile)
NM_017617.5(NOTCH1):c.2326G>T (p.Val776Leu) rs377286829
NM_017617.5(NOTCH1):c.232G>A (p.Asp78Asn)
NM_017617.5(NOTCH1):c.2333C>T (p.Thr778Ile)
NM_017617.5(NOTCH1):c.2334C>T (p.Thr778=) rs1246624794
NM_017617.5(NOTCH1):c.2346C>A (p.Gly782=)
NM_017617.5(NOTCH1):c.2353+11T>A
NM_017617.5(NOTCH1):c.2353+16G>A
NM_017617.5(NOTCH1):c.2353+20C>G
NM_017617.5(NOTCH1):c.2354-16G>A
NM_017617.5(NOTCH1):c.2354-6C>T rs1405914952
NM_017617.5(NOTCH1):c.2354-8C>T rs779665060
NM_017617.5(NOTCH1):c.2354-9T>C
NM_017617.5(NOTCH1):c.240A>G (p.Arg80=)
NM_017617.5(NOTCH1):c.2415G>A (p.Thr805=) rs774284462
NM_017617.5(NOTCH1):c.2415G>C (p.Thr805=) rs774284462
NM_017617.5(NOTCH1):c.2415G>T (p.Thr805=)
NM_017617.5(NOTCH1):c.2439C>T (p.Tyr813=) rs1057515422
NM_017617.5(NOTCH1):c.243C>T (p.Gly81=)
NM_017617.5(NOTCH1):c.2448C>T (p.Asn816=) rs1422745093
NM_017617.5(NOTCH1):c.2456T>C (p.Leu819Pro)
NM_017617.5(NOTCH1):c.2459C>A (p.Pro820His)
NM_017617.5(NOTCH1):c.2460C>G (p.Pro820=)
NM_017617.5(NOTCH1):c.2467+7G>T rs1843207149
NM_017617.5(NOTCH1):c.2468-10C>T rs2133355112
NM_017617.5(NOTCH1):c.2468-4G>T
NM_017617.5(NOTCH1):c.2468-5C>T
NM_017617.5(NOTCH1):c.2468-6C>G
NM_017617.5(NOTCH1):c.2475G>A (p.Thr825=) rs766045141
NM_017617.5(NOTCH1):c.2479G>A (p.Glu827Lys) rs760376139
NM_017617.5(NOTCH1):c.2481G>A (p.Glu827=)
NM_017617.5(NOTCH1):c.2496G>A (p.Pro832=) rs61751551
NM_017617.5(NOTCH1):c.249A>G (p.Ala83=)
NM_017617.5(NOTCH1):c.2502C>T (p.Ala834=)
NM_017617.5(NOTCH1):c.2505C>T (p.Pro835=)
NM_017617.5(NOTCH1):c.2514C>T (p.Cys838=) rs1554728839
NM_017617.5(NOTCH1):c.2521G>C (p.Gly841Arg)
NM_017617.5(NOTCH1):c.2529G>A (p.Glu843=) rs1191070636
NM_017617.5(NOTCH1):c.2538A>G (p.Gln846=)
NM_017617.5(NOTCH1):c.2549A>G (p.Tyr850Cys)
NM_017617.5(NOTCH1):c.2550T>C (p.Tyr850=)
NM_017617.5(NOTCH1):c.2574C>T (p.Pro858=) rs1589063028
NM_017617.5(NOTCH1):c.2580C>T (p.Gly860=) rs761604720
NM_017617.5(NOTCH1):c.2587+18C>G
NM_017617.5(NOTCH1):c.2587+19C>T
NM_017617.5(NOTCH1):c.2588-11C>G
NM_017617.5(NOTCH1):c.2588-13T>C
NM_017617.5(NOTCH1):c.2588-17del
NM_017617.5(NOTCH1):c.2588-20G>A rs371359766
NM_017617.5(NOTCH1):c.2588-20G>C
NM_017617.5(NOTCH1):c.2588-7C>T
NM_017617.5(NOTCH1):c.258C>G (p.Ala86=)
NM_017617.5(NOTCH1):c.2594C>T (p.Thr865Ile)
NM_017617.5(NOTCH1):c.2626A>G (p.Ser876Gly)
NM_017617.5(NOTCH1):c.2631G>C (p.Pro877=)
NM_017617.5(NOTCH1):c.2636G>T (p.Arg879Leu) rs368011392
NM_017617.5(NOTCH1):c.2645C>T (p.Ala882Val)
NM_017617.5(NOTCH1):c.2661C>T (p.Thr887=)
NM_017617.5(NOTCH1):c.2670C>T (p.Gly890=)
NM_017617.5(NOTCH1):c.2673C>T (p.Tyr891=)
NM_017617.5(NOTCH1):c.2679C>T (p.Cys893=) rs373306460
NM_017617.5(NOTCH1):c.2685C>T (p.Cys895=) rs2133353146
NM_017617.5(NOTCH1):c.2705G>A (p.Arg902His) rs373075482
NM_017617.5(NOTCH1):c.271C>T (p.Leu91=)
NM_017617.5(NOTCH1):c.2740+12C>A
NM_017617.5(NOTCH1):c.2740+12C>G
NM_017617.5(NOTCH1):c.2740+15G>A
NM_017617.5(NOTCH1):c.2740+16del
NM_017617.5(NOTCH1):c.2740+17C>T
NM_017617.5(NOTCH1):c.2740+18T>C
NM_017617.5(NOTCH1):c.2741-12G>C
NM_017617.5(NOTCH1):c.2741-17C>T
NM_017617.5(NOTCH1):c.2741-6T>A rs2133351503
NM_017617.5(NOTCH1):c.2741-7C>T
NM_017617.5(NOTCH1):c.2742C>T (p.Asn914=)
NM_017617.5(NOTCH1):c.2757G>A (p.Gly919=) rs1843152166
NM_017617.5(NOTCH1):c.2760C>T (p.Gly920=)
NM_017617.5(NOTCH1):c.2786C>A (p.Ala929Asp) rs1218875928
NM_017617.5(NOTCH1):c.2794G>A (p.Asp932Asn)
NM_017617.5(NOTCH1):c.2802G>A (p.Leu934=)
NM_017617.5(NOTCH1):c.2802G>T (p.Leu934=)
NM_017617.5(NOTCH1):c.2811C>T (p.Phe937=) rs2133351104
NM_017617.5(NOTCH1):c.2844G>A (p.Glu948=) rs2133350962
NM_017617.5(NOTCH1):c.2859C>T (p.Pro953=) rs2133350864
NM_017617.5(NOTCH1):c.2864G>A (p.Arg955His) rs557049479
NM_017617.5(NOTCH1):c.2864G>T (p.Arg955Leu)
NM_017617.5(NOTCH1):c.2867A>G (p.Asn956Ser)
NM_017617.5(NOTCH1):c.2871G>T (p.Gly957=)
NM_017617.5(NOTCH1):c.2883G>A (p.Thr961=)
NM_017617.5(NOTCH1):c.2883G>T (p.Thr961=) rs774785001
NM_017617.5(NOTCH1):c.2896A>G (p.Ser966Gly)
NM_017617.5(NOTCH1):c.289C>T (p.Leu97Phe)
NM_017617.5(NOTCH1):c.2909C>T (p.Thr970Ile)
NM_017617.5(NOTCH1):c.2919A>G (p.Ala973=) rs766105850
NM_017617.5(NOTCH1):c.2922C>T (p.Gly974=) rs1380594425
NM_017617.5(NOTCH1):c.2931G>C (p.Gly977=) rs767071793
NM_017617.5(NOTCH1):c.2935C>T (p.His979Tyr) rs1380298048
NM_017617.5(NOTCH1):c.2958C>T (p.Asp986=) rs775739575
NM_017617.5(NOTCH1):c.2969+13C>G
NM_017617.5(NOTCH1):c.2969+9G>A
NM_017617.5(NOTCH1):c.2970-10C>T rs2133349102
NM_017617.5(NOTCH1):c.2970-20G>T rs367927174
NM_017617.5(NOTCH1):c.2970-5T>G
NM_017617.5(NOTCH1):c.2970-7C>T
NM_017617.5(NOTCH1):c.2970-8C>T
NM_017617.5(NOTCH1):c.2970-9C>G
NM_017617.5(NOTCH1):c.297G>C (p.Leu99=)
NM_017617.5(NOTCH1):c.3000C>T (p.Asp1000=)
NM_017617.5(NOTCH1):c.3022C>T (p.Leu1008=)
NM_017617.5(NOTCH1):c.3036C>T (p.Gly1012=)
NM_017617.5(NOTCH1):c.3042G>C (p.Thr1014=)
NM_017617.5(NOTCH1):c.3045C>T (p.Gly1015=) rs2133348920
NM_017617.5(NOTCH1):c.304C>T (p.Leu102=)
NM_017617.5(NOTCH1):c.3057G>A (p.Gln1019=)
NM_017617.5(NOTCH1):c.3067A>G (p.Asn1023Asp)
NM_017617.5(NOTCH1):c.3087C>A (p.Pro1029=)
NM_017617.5(NOTCH1):c.3087C>T (p.Pro1029=)
NM_017617.5(NOTCH1):c.3126C>T (p.Ser1042=)
NM_017617.5(NOTCH1):c.3129C>T (p.Tyr1043=) rs752650941
NM_017617.5(NOTCH1):c.3150C>A (p.Gly1050=) rs1060504523
NM_017617.5(NOTCH1):c.3156T>G (p.Thr1052=)
NM_017617.5(NOTCH1):c.3160C>T (p.Pro1054Ser)
NM_017617.5(NOTCH1):c.3171+11C>T
NM_017617.5(NOTCH1):c.3171+14C>G
NM_017617.5(NOTCH1):c.3172-14C>T
NM_017617.5(NOTCH1):c.3172-4C>G
NM_017617.5(NOTCH1):c.3172-4C>T
NM_017617.5(NOTCH1):c.3172-5C>G
NM_017617.5(NOTCH1):c.3176T>C (p.Leu1059Pro)
NM_017617.5(NOTCH1):c.3192C>T (p.Asp1064=) rs587778565
NM_017617.5(NOTCH1):c.3197C>T (p.Ser1066Leu)
NM_017617.5(NOTCH1):c.3261C>A (p.Ser1087Arg)
NM_017617.5(NOTCH1):c.3262G>A (p.Gly1088Ser) rs531420022
NM_017617.5(NOTCH1):c.3283G>A (p.Asp1095Asn)
NM_017617.5(NOTCH1):c.3291C>T (p.Pro1097=) rs1234909362
NM_017617.5(NOTCH1):c.3300C>G (p.Ser1100=) rs1484716795
NM_017617.5(NOTCH1):c.3312T>A (p.Ala1104=) rs2133347063
NM_017617.5(NOTCH1):c.3315G>A (p.Ala1105=) rs3812602
NM_017617.5(NOTCH1):c.3325+10T>C rs1060504526
NM_017617.5(NOTCH1):c.3325+12T>C
NM_017617.5(NOTCH1):c.3325+18C>T rs762473735
NM_017617.5(NOTCH1):c.3325+8G>A
NM_017617.5(NOTCH1):c.3326-12C>T
NM_017617.5(NOTCH1):c.3326-13C>A
NM_017617.5(NOTCH1):c.3326-14C>G
NM_017617.5(NOTCH1):c.3326-15C>A rs371180086
NM_017617.5(NOTCH1):c.3326-17C>T
NM_017617.5(NOTCH1):c.3326-8C>T rs2133346689
NM_017617.5(NOTCH1):c.3326-9C>T rs994509635
NM_017617.5(NOTCH1):c.3327T>C (p.Gly1109=)
NM_017617.5(NOTCH1):c.3345G>T (p.Leu1115=) rs752440904
NM_017617.5(NOTCH1):c.3356G>A (p.Gly1119Glu)
NM_017617.5(NOTCH1):c.3372C>T (p.Asp1124=) rs530959956
NM_017617.5(NOTCH1):c.3383C>T (p.Thr1128Met)
NM_017617.5(NOTCH1):c.338A>G (p.Asn113Ser)
NM_017617.5(NOTCH1):c.3426T>C (p.Cys1142=)
NM_017617.5(NOTCH1):c.3477C>T (p.Thr1159=)
NM_017617.5(NOTCH1):c.3495C>A (p.Gly1165=)
NM_017617.5(NOTCH1):c.3504C>G (p.Ser1168=)
NM_017617.5(NOTCH1):c.3504C>T (p.Ser1168=) rs1475139232
NM_017617.5(NOTCH1):c.3510+11C>T rs1057524613
NM_017617.5(NOTCH1):c.3510+16A>C
NM_017617.5(NOTCH1):c.3510+18G>A
NM_017617.5(NOTCH1):c.3510+9C>T
NM_017617.5(NOTCH1):c.3511-13G>A
NM_017617.5(NOTCH1):c.3511-15C>G
NM_017617.5(NOTCH1):c.3511-18G>A
NM_017617.5(NOTCH1):c.3511-18G>T rs780629106
NM_017617.5(NOTCH1):c.3511-8C>T
NM_017617.5(NOTCH1):c.3525C>T (p.Tyr1175=)
NM_017617.5(NOTCH1):c.3542C>T (p.Ser1181Phe)
NM_017617.5(NOTCH1):c.3547G>A (p.Glu1183Lys) rs1300209111
NM_017617.5(NOTCH1):c.3549G>A (p.Glu1183=) rs760814014
NM_017617.5(NOTCH1):c.354C>T (p.Asp118=)
NM_017617.5(NOTCH1):c.3579G>A (p.Gln1193=) rs61751544
NM_017617.5(NOTCH1):c.3585G>A (p.Gly1195=) rs1843105001
NM_017617.5(NOTCH1):c.3644-14A>G
NM_017617.5(NOTCH1):c.3660C>T (p.Ile1220=)
NM_017617.5(NOTCH1):c.3667G>A (p.Asp1223Asn)
NM_017617.5(NOTCH1):c.3693C>G (p.Pro1231=)
NM_017617.5(NOTCH1):c.36G>T (p.Ala12=) rs1843806561
NM_017617.5(NOTCH1):c.3704G>A (p.Ser1235Asn)
NM_017617.5(NOTCH1):c.3768G>T (p.Pro1256=) rs779987984
NM_017617.5(NOTCH1):c.378G>A (p.Lys126=)
NM_017617.5(NOTCH1):c.3808G>A (p.Glu1270Lys)
NM_017617.5(NOTCH1):c.3813C>T (p.Cys1271=)
NM_017617.5(NOTCH1):c.3819C>G (p.Ser1273=) rs2133343514
NM_017617.5(NOTCH1):c.3833C>T (p.Ala1278Val)
NM_017617.5(NOTCH1):c.3853G>T (p.Val1285Leu) rs756972680
NM_017617.5(NOTCH1):c.387C>T (p.Cys129=)
NM_017617.5(NOTCH1):c.3891T>C (p.Ala1297=)
NM_017617.5(NOTCH1):c.3901+20G>A
NM_017617.5(NOTCH1):c.3901+9C>A
NM_017617.5(NOTCH1):c.3902-5C>T
NM_017617.5(NOTCH1):c.3902-6C>T rs1226411358
NM_017617.5(NOTCH1):c.3902-7C>T
NM_017617.5(NOTCH1):c.3907C>T (p.Arg1303Cys)
NM_017617.5(NOTCH1):c.390G>C (p.Pro130=)
NM_017617.5(NOTCH1):c.390G>T (p.Pro130=) rs61751559
NM_017617.5(NOTCH1):c.3912C>T (p.Cys1304=)
NM_017617.5(NOTCH1):c.3915G>A (p.Glu1305=) rs1554728133
NM_017617.5(NOTCH1):c.3918C>G (p.Ser1306=)
NM_017617.5(NOTCH1):c.4004A>G (p.Lys1335Arg)
NM_017617.5(NOTCH1):c.4014+9A>G rs1843087537
NM_017617.5(NOTCH1):c.4015-19T>C
NM_017617.5(NOTCH1):c.4015-7C>G
NM_017617.5(NOTCH1):c.4026C>T (p.Gly1342=)
NM_017617.5(NOTCH1):c.4029C>A (p.Ala1343=) rs969014492
NM_017617.5(NOTCH1):c.403+14C>T
NM_017617.5(NOTCH1):c.403+16C>T
NM_017617.5(NOTCH1):c.403+18G>A
NM_017617.5(NOTCH1):c.403+19C>T
NM_017617.5(NOTCH1):c.4031C>T (p.Thr1344Met) rs201215245
NM_017617.5(NOTCH1):c.4032G>A (p.Thr1344=)
NM_017617.5(NOTCH1):c.404-5T>C rs1229789449
NM_017617.5(NOTCH1):c.404-6C>G
NM_017617.5(NOTCH1):c.4049G>A (p.Arg1350His) rs150343794
NM_017617.5(NOTCH1):c.4049G>T (p.Arg1350Leu) rs150343794
NM_017617.5(NOTCH1):c.4053C>A (p.Thr1351=) rs1267241464
NM_017617.5(NOTCH1):c.4058G>A (p.Gly1353Asp) rs1274662962
NM_017617.5(NOTCH1):c.405G>A (p.Gly135=)
NM_017617.5(NOTCH1):c.4098C>G (p.Gly1366=) rs2133340927
NM_017617.5(NOTCH1):c.411G>T (p.Ser137=) rs560826996
NM_017617.5(NOTCH1):c.4128C>G (p.Gly1376=) rs1292953898
NM_017617.5(NOTCH1):c.4137G>C (p.Thr1379=) rs762733162
NM_017617.5(NOTCH1):c.4144G>A (p.Glu1382Lys)
NM_017617.5(NOTCH1):c.4149C>T (p.Cys1383=) rs1843072777
NM_017617.5(NOTCH1):c.4173C>T (p.Cys1391=) rs1589058923
NM_017617.5(NOTCH1):c.4212G>A (p.Glu1404=) rs2133340344
NM_017617.5(NOTCH1):c.4221C>A (p.Ser1407=)
NM_017617.5(NOTCH1):c.4236C>T (p.Tyr1412=)
NM_017617.5(NOTCH1):c.4266G>A (p.Gly1422=)
NM_017617.5(NOTCH1):c.4270T>C (p.Leu1424=)
NM_017617.5(NOTCH1):c.4278C>T (p.His1426=)
NM_017617.5(NOTCH1):c.4287C>T (p.Asp1429=) rs2133339971
NM_017617.5(NOTCH1):c.4297G>A (p.Gly1433Arg)
NM_017617.5(NOTCH1):c.429G>T (p.Pro143=) rs757406877
NM_017617.5(NOTCH1):c.4311G>T (p.Gly1437=)
NM_017617.5(NOTCH1):c.4325C>G (p.Pro1442Arg)
NM_017617.5(NOTCH1):c.4335C>T (p.Ile1445=) rs373960609
NM_017617.5(NOTCH1):c.433G>T (p.Ala145Ser)
NM_017617.5(NOTCH1):c.4343C>T (p.Ala1448Val)
NM_017617.5(NOTCH1):c.4350G>A (p.Glu1450=)
NM_017617.5(NOTCH1):c.4356C>A (p.Pro1452=)
NM_017617.5(NOTCH1):c.4362C>T (p.Cys1454=) rs944984360
NM_017617.5(NOTCH1):c.4374G>C (p.Ala1458=)
NM_017617.5(NOTCH1):c.4383G>A (p.Lys1461=)
NM_017617.5(NOTCH1):c.4389C>T (p.Cys1463=)
NM_017617.5(NOTCH1):c.438C>T (p.Ser146=) rs1589072128
NM_017617.5(NOTCH1):c.4440C>T (p.Ser1480=)
NM_017617.5(NOTCH1):c.4443C>T (p.Leu1481=) rs2133339138
NM_017617.5(NOTCH1):c.4452T>C (p.Asn1484=)
NM_017617.5(NOTCH1):c.4470C>T (p.Cys1490=)
NM_017617.5(NOTCH1):c.4477T>C (p.Ser1493Pro)
NM_017617.5(NOTCH1):c.4480C>T (p.Leu1494=)
NM_017617.5(NOTCH1):c.4482G>A (p.Leu1494=)
NM_017617.5(NOTCH1):c.4482G>T (p.Leu1494=)
NM_017617.5(NOTCH1):c.4497C>T (p.Tyr1499=) rs1843064502
NM_017617.5(NOTCH1):c.4518C>T (p.Asp1506=)
NM_017617.5(NOTCH1):c.4548C>G (p.Phe1516Leu)
NM_017617.5(NOTCH1):c.4560C>T (p.Asp1520=) rs1057523575
NM_017617.5(NOTCH1):c.4563C>T (p.Cys1521=)
NM_017617.5(NOTCH1):c.456T>C (p.Gly152=) rs1044385750
NM_017617.5(NOTCH1):c.4586+11G>A
NM_017617.5(NOTCH1):c.4586+11G>C rs777578180
NM_017617.5(NOTCH1):c.4586+14G>A
NM_017617.5(NOTCH1):c.4586+17C>T
NM_017617.5(NOTCH1):c.4587-10C>A
NM_017617.5(NOTCH1):c.4587-10C>T
NM_017617.5(NOTCH1):c.4587-12C>T
NM_017617.5(NOTCH1):c.4587-16G>T
NM_017617.5(NOTCH1):c.4587-18G>A
NM_017617.5(NOTCH1):c.4587-4A>G rs2133337921
NM_017617.5(NOTCH1):c.4587-5C>G
NM_017617.5(NOTCH1):c.4587-5C>T
NM_017617.5(NOTCH1):c.4587-8C>A rs1470543120
NM_017617.5(NOTCH1):c.4590C>G (p.Pro1530=) rs1357545431
NM_017617.5(NOTCH1):c.4593G>A (p.Leu1531=)
NM_017617.5(NOTCH1):c.45C>T (p.Pro15=) rs764936481
NM_017617.5(NOTCH1):c.4609A>G (p.Lys1537Glu)
NM_017617.5(NOTCH1):c.4624G>A (p.Asp1542Asn) rs1339004050
NM_017617.5(NOTCH1):c.4659G>A (p.Glu1553=)
NM_017617.5(NOTCH1):c.4664A>T (p.Glu1555Val)
NM_017617.5(NOTCH1):c.4674G>T (p.Gly1558=)
NM_017617.5(NOTCH1):c.4677G>A (p.Leu1559=)
NM_017617.5(NOTCH1):c.4680C>T (p.Asp1560=)
NM_017617.5(NOTCH1):c.4720C>T (p.Leu1574=) rs2133337220
NM_017617.5(NOTCH1):c.4749G>A (p.Glu1583=)
NM_017617.5(NOTCH1):c.4758C>T (p.Arg1586=)
NM_017617.5(NOTCH1):c.475G>C (p.Glu159Gln)
NM_017617.5(NOTCH1):c.4761C>T (p.Asn1587=) rs777947269
NM_017617.5(NOTCH1):c.4767C>T (p.Ser1589=)
NM_017617.5(NOTCH1):c.4780C>T (p.Arg1594Trp)
NM_017617.5(NOTCH1):c.4788C>T (p.Leu1596=) rs2133336800
NM_017617.5(NOTCH1):c.4791C>T (p.Ser1597=)
NM_017617.5(NOTCH1):c.4794C>G (p.Arg1598=) rs558708604
NM_017617.5(NOTCH1):c.4806C>G (p.Thr1602=)
NM_017617.5(NOTCH1):c.480C>T (p.Ala160=) rs762389418
NM_017617.5(NOTCH1):c.4812G>C (p.Val1604=)
NM_017617.5(NOTCH1):c.4814T>C (p.Val1605Ala)
NM_017617.5(NOTCH1):c.4828G>A (p.Ala1610Thr)
NM_017617.5(NOTCH1):c.4851C>T (p.Phe1617=)
NM_017617.5(NOTCH1):c.4857C>T (p.Tyr1619=)
NM_017617.5(NOTCH1):c.4861G>A (p.Gly1621Ser)
NM_017617.5(NOTCH1):c.4864C>T (p.Arg1622Cys)
NM_017617.5(NOTCH1):c.4866C>G (p.Arg1622=) rs772314400
NM_017617.5(NOTCH1):c.486C>T (p.Tyr162=)
NM_017617.5(NOTCH1):c.4878G>A (p.Leu1626=)
NM_017617.5(NOTCH1):c.4897C>A (p.Arg1633Ser)
NM_017617.5(NOTCH1):c.4902C>G (p.Ala1634=)
NM_017617.5(NOTCH1):c.4902C>T (p.Ala1634=)
NM_017617.5(NOTCH1):c.4911C>G (p.Gly1637=)
NM_017617.5(NOTCH1):c.4917C>A (p.Ala1639=)
NM_017617.5(NOTCH1):c.4932G>C (p.Leu1644=)
NM_017617.5(NOTCH1):c.4941G>A (p.Gln1647=) rs1589058142
NM_017617.5(NOTCH1):c.4953G>A (p.Ser1651=) rs761306198
NM_017617.5(NOTCH1):c.4953G>T (p.Ser1651=) rs761306198
NM_017617.5(NOTCH1):c.4971C>T (p.Ser1657=) rs367838230
NM_017617.5(NOTCH1):c.5016C>T (p.Arg1672=) rs1251609154
NM_017617.5(NOTCH1):c.5018+12C>T rs1225398496
NM_017617.5(NOTCH1):c.5018+17G>A
NM_017617.5(NOTCH1):c.5019-10G>A
NM_017617.5(NOTCH1):c.5019-10G>T
NM_017617.5(NOTCH1):c.5019-18C>T
NM_017617.5(NOTCH1):c.5019-20CT[2] rs748274615
NM_017617.5(NOTCH1):c.5019-9T>C rs1589057393
NM_017617.5(NOTCH1):c.501A>T (p.Pro167=) rs1554730657
NM_017617.5(NOTCH1):c.5032C>T (p.Leu1678=)
NM_017617.5(NOTCH1):c.5047C>A (p.Arg1683=)
NM_017617.5(NOTCH1):c.5064C>G (p.Ala1688=)
NM_017617.5(NOTCH1):c.5073G>C (p.Gln1691His) rs61751538
NM_017617.5(NOTCH1):c.5118C>G (p.Leu1706=)
NM_017617.5(NOTCH1):c.5119G>A (p.Ala1707Thr)
NM_017617.5(NOTCH1):c.5124G>A (p.Ser1708=) rs35980907
NM_017617.5(NOTCH1):c.5154C>A (p.Ile1718=)
NM_017617.5(NOTCH1):c.5155G>A (p.Glu1719Lys) rs750085425
NM_017617.5(NOTCH1):c.5167+13C>T
NM_017617.5(NOTCH1):c.5167+18C>A
NM_017617.5(NOTCH1):c.5167+19C>G rs751046078
NM_017617.5(NOTCH1):c.5167+20G>A
NM_017617.5(NOTCH1):c.5168-13C>T
NM_017617.5(NOTCH1):c.5168-16G>A rs2133331940
NM_017617.5(NOTCH1):c.5168-18del
NM_017617.5(NOTCH1):c.5168-20C>T
NM_017617.5(NOTCH1):c.5168-5C>G
NM_017617.5(NOTCH1):c.5168-7C>T rs1589056781
NM_017617.5(NOTCH1):c.5168-8G>A rs781506247
NM_017617.5(NOTCH1):c.5181G>A (p.Glu1727=)
NM_017617.5(NOTCH1):c.5187C>G (p.Pro1729=)
NM_017617.5(NOTCH1):c.5195C>T (p.Ala1732Val) rs768040014
NM_017617.5(NOTCH1):c.5196G>A (p.Ala1732=)
NM_017617.5(NOTCH1):c.51C>T (p.Leu17=) rs1478932209
NM_017617.5(NOTCH1):c.5201T>A (p.Leu1734Gln) rs780546252
NM_017617.5(NOTCH1):c.5215G>A (p.Val1739Met) rs377294245
NM_017617.5(NOTCH1):c.5227G>A (p.Ala1743Thr)
NM_017617.5(NOTCH1):c.5256C>T (p.Cys1752=)
NM_017617.5(NOTCH1):c.525C>T (p.Cys175=)
NM_017617.5(NOTCH1):c.5266C>T (p.Leu1756=) rs746342953
NM_017617.5(NOTCH1):c.5272C>T (p.Arg1758Cys)
NM_017617.5(NOTCH1):c.5281C>T (p.Arg1761Trp)
NM_017617.5(NOTCH1):c.5298G>A (p.Gln1766=)
NM_017617.5(NOTCH1):c.5307C>T (p.Phe1769=) rs1400804279
NM_017617.5(NOTCH1):c.5333C>T (p.Ala1778Val)
NM_017617.5(NOTCH1):c.5358C>T (p.Pro1786=)
NM_017617.5(NOTCH1):c.5370C>T (p.Asp1790=) rs2133330858
NM_017617.5(NOTCH1):c.5384+16C>T
NM_017617.5(NOTCH1):c.5384+8G>A
NM_017617.5(NOTCH1):c.5385-10C>T rs2133330224
NM_017617.5(NOTCH1):c.5385-17G>A rs746960421
NM_017617.5(NOTCH1):c.5385-5C>A
NM_017617.5(NOTCH1):c.5385-7C>T
NM_017617.5(NOTCH1):c.5385-9A>G rs2133330218
NM_017617.5(NOTCH1):c.5388C>T (p.Pro1796=)
NM_017617.5(NOTCH1):c.5394G>A (p.Lys1798=)
NM_017617.5(NOTCH1):c.5412C>T (p.Ala1804=)
NM_017617.5(NOTCH1):c.5438G>C (p.Trp1813Ser)
NM_017617.5(NOTCH1):c.5446G>A (p.Glu1816Lys)
NM_017617.5(NOTCH1):c.5472+15T>A
NM_017617.5(NOTCH1):c.5472+16C>T
NM_017617.5(NOTCH1):c.5472+18C>A
NM_017617.5(NOTCH1):c.5472+18C>G
NM_017617.5(NOTCH1):c.5472+19G>A
NM_017617.5(NOTCH1):c.5472+19G>C rs755674060
NM_017617.5(NOTCH1):c.5472+7C>T
NM_017617.5(NOTCH1):c.5472+8G>T
NM_017617.5(NOTCH1):c.5473-12C>T
NM_017617.5(NOTCH1):c.5473-15A>C
NM_017617.5(NOTCH1):c.5473-6A>T
NM_017617.5(NOTCH1):c.5475C>T (p.Phe1825=)
NM_017617.5(NOTCH1):c.5502G>C (p.Leu1834=) rs1259279311
NM_017617.5(NOTCH1):c.5532T>C (p.Thr1844=)
NM_017617.5(NOTCH1):c.553A>C (p.Lys185Gln)
NM_017617.5(NOTCH1):c.5557C>T (p.Leu1853=)
NM_017617.5(NOTCH1):c.5559G>A (p.Leu1853=)
NM_017617.5(NOTCH1):c.5561G>A (p.Arg1854His) rs878855028
NM_017617.5(NOTCH1):c.5571C>T (p.Ala1857=)
NM_017617.5(NOTCH1):c.5586G>A (p.Pro1862=)
NM_017617.5(NOTCH1):c.5605G>T (p.Ala1869Ser) rs200603539
NM_017617.5(NOTCH1):c.5625T>C (p.Asn1875=)
NM_017617.5(NOTCH1):c.5631C>A (p.Arg1877=)
NM_017617.5(NOTCH1):c.5638+19A>C
NM_017617.5(NOTCH1):c.5639-10G>C rs1842984290
NM_017617.5(NOTCH1):c.5639-11T>C
NM_017617.5(NOTCH1):c.5639-14C>T
NM_017617.5(NOTCH1):c.5639-16G>A
NM_017617.5(NOTCH1):c.5639-19C>A
NM_017617.5(NOTCH1):c.5639-19C>T
NM_017617.5(NOTCH1):c.5639-7T>C rs1842984230
NM_017617.5(NOTCH1):c.5661C>T (p.Ile1887=) rs750185397
NM_017617.5(NOTCH1):c.5680G>A (p.Gly1894Ser)
NM_017617.5(NOTCH1):c.5685G>A (p.Leu1895=) rs1060504521
NM_017617.5(NOTCH1):c.5691G>A (p.Thr1897=) rs373612059
NM_017617.5(NOTCH1):c.5717C>T (p.Ala1906Val)
NM_017617.5(NOTCH1):c.5733C>A (p.Ser1911=)
NM_017617.5(NOTCH1):c.5742C>T (p.Ile1914=)
NM_017617.5(NOTCH1):c.5751C>A (p.Gly1917=) rs752199771
NM_017617.5(NOTCH1):c.5751C>T (p.Gly1917=)
NM_017617.5(NOTCH1):c.5757C>T (p.Ser1919=)
NM_017617.5(NOTCH1):c.5772A>C (p.Thr1924=)
NM_017617.5(NOTCH1):c.5777G>T (p.Arg1926Leu) rs771407924
NM_017617.5(NOTCH1):c.580A>C (p.Thr194Pro) rs770333242
NM_017617.5(NOTCH1):c.5814C>T (p.Tyr1938=)
NM_017617.5(NOTCH1):c.5820C>T (p.Arg1940=)
NM_017617.5(NOTCH1):c.5829C>A (p.Ala1943=) rs1036442909
NM_017617.5(NOTCH1):c.582C>T (p.Thr194=)
NM_017617.5(NOTCH1):c.5856A>G (p.Ala1952=)
NM_017617.5(NOTCH1):c.5907G>A (p.Val1969=)
NM_017617.5(NOTCH1):c.5919A>G (p.Ala1973=) rs781224907
NM_017617.5(NOTCH1):c.5934+10G>A
NM_017617.5(NOTCH1):c.5934+12C>G
NM_017617.5(NOTCH1):c.5934+20G>A
NM_017617.5(NOTCH1):c.5935-10T>G
NM_017617.5(NOTCH1):c.5935-14T>C
NM_017617.5(NOTCH1):c.5935-19G>A
NM_017617.5(NOTCH1):c.5935-5C>T
NM_017617.5(NOTCH1):c.5944C>A (p.Arg1982=)
NM_017617.5(NOTCH1):c.5944C>T (p.Arg1982Trp)
NM_017617.5(NOTCH1):c.5952A>G (p.Arg1984=)
NM_017617.5(NOTCH1):c.5995C>T (p.Leu1999=)
NM_017617.5(NOTCH1):c.6009C>T (p.Ala2003=)
NM_017617.5(NOTCH1):c.6018C>T (p.Ala2006=) rs748935957
NM_017617.5(NOTCH1):c.6019G>A (p.Val2007Met)
NM_017617.5(NOTCH1):c.6027C>T (p.Gly2009=) rs1232741465
NM_017617.5(NOTCH1):c.6054C>A (p.His2018Gln) rs202198360
NM_017617.5(NOTCH1):c.6055G>A (p.Ala2019Thr)
NM_017617.5(NOTCH1):c.6063C>T (p.Val2021=) rs1589054533
NM_017617.5(NOTCH1):c.6065A>G (p.Asn2022Ser)
NM_017617.5(NOTCH1):c.6072A>T (p.Val2024=)
NM_017617.5(NOTCH1):c.6082+11G>A
NM_017617.5(NOTCH1):c.6082+15G>T
NM_017617.5(NOTCH1):c.6082+16C>T
NM_017617.5(NOTCH1):c.6083-16T>G
NM_017617.5(NOTCH1):c.6083-17C>A
NM_017617.5(NOTCH1):c.6083-20C>T
NM_017617.5(NOTCH1):c.608G>A (p.Arg203His) rs182763411
NM_017617.5(NOTCH1):c.6090C>G (p.Ser2030=)
NM_017617.5(NOTCH1):c.6094C>T (p.Leu2032=) rs1060504525
NM_017617.5(NOTCH1):c.6096G>A (p.Leu2032=) rs2133321884
NM_017617.5(NOTCH1):c.61+17C>T
NM_017617.5(NOTCH1):c.61+18C>A
NM_017617.5(NOTCH1):c.61+8C>T
NM_017617.5(NOTCH1):c.6111C>A (p.Ala2037=)
NM_017617.5(NOTCH1):c.6117C>T (p.Asn2039=) rs2133321780
NM_017617.5(NOTCH1):c.6129C>G (p.Ala2043=)
NM_017617.5(NOTCH1):c.6129C>T (p.Ala2043=) rs563053477
NM_017617.5(NOTCH1):c.6135T>C (p.Val2045=) rs920077656
NM_017617.5(NOTCH1):c.6138G>A (p.Val2046=)
NM_017617.5(NOTCH1):c.6153G>A (p.Gly2051=) rs1554826678
NM_017617.5(NOTCH1):c.6174C>T (p.Asn2058=)
NM_017617.5(NOTCH1):c.6177C>T (p.Asn2059=) rs992614355
NM_017617.5(NOTCH1):c.6180+11G>T
NM_017617.5(NOTCH1):c.6180+13C>A rs1303958303
NM_017617.5(NOTCH1):c.6180+19T>C
NM_017617.5(NOTCH1):c.6180+9G>C
NM_017617.5(NOTCH1):c.6180+9G>T rs200371378
NM_017617.5(NOTCH1):c.6181-12C>G
NM_017617.5(NOTCH1):c.6181-14C>T
NM_017617.5(NOTCH1):c.6181-16C>T
NM_017617.5(NOTCH1):c.6181-5C>G
NM_017617.5(NOTCH1):c.6181-7C>G
NM_017617.5(NOTCH1):c.6192C>T (p.Pro2064=)
NM_017617.5(NOTCH1):c.6198T>C (p.Phe2066=)
NM_017617.5(NOTCH1):c.62-14C>T rs1426366565
NM_017617.5(NOTCH1):c.62-15_62-13del
NM_017617.5(NOTCH1):c.62-16T>G rs1164452688
NM_017617.5(NOTCH1):c.62-17C>G
NM_017617.5(NOTCH1):c.62-4C>T
NM_017617.5(NOTCH1):c.62-5C>A
NM_017617.5(NOTCH1):c.62-9C>G
NM_017617.5(NOTCH1):c.6231C>T (p.Ala2077=)
NM_017617.5(NOTCH1):c.6234G>A (p.Lys2078=) rs1485488069
NM_017617.5(NOTCH1):c.6252T>C (p.Phe2084=)
NM_017617.5(NOTCH1):c.6258C>T (p.Asn2086=)
NM_017617.5(NOTCH1):c.6291G>T (p.Pro2097=) rs201987555
NM_017617.5(NOTCH1):c.6292C>T (p.Arg2098Cys)
NM_017617.5(NOTCH1):c.6297C>T (p.Asp2099=)
NM_017617.5(NOTCH1):c.6300C>T (p.Ile2100=) rs773483690
NM_017617.5(NOTCH1):c.6324C>T (p.Asp2108=)
NM_017617.5(NOTCH1):c.633T>C (p.Thr211=)
NM_017617.5(NOTCH1):c.6349A>T (p.Asn2117Tyr)
NM_017617.5(NOTCH1):c.6362G>A (p.Ser2121Asn) rs761054017
NM_017617.5(NOTCH1):c.6363C>G (p.Ser2121Arg)
NM_017617.5(NOTCH1):c.636C>T (p.Gly212=) rs1843397551
NM_017617.5(NOTCH1):c.6387G>T (p.Leu2129=)
NM_017617.5(NOTCH1):c.6393C>T (p.Gly2131=) rs1390112624
NM_017617.5(NOTCH1):c.6396G>A (p.Thr2132=) rs554843595
NM_017617.5(NOTCH1):c.6402C>T (p.Thr2134=) rs2133318771
NM_017617.5(NOTCH1):c.6423G>A (p.Ser2141=)
NM_017617.5(NOTCH1):c.6423G>T (p.Ser2141=)
NM_017617.5(NOTCH1):c.6450G>T (p.Lys2150Asn)
NM_017617.5(NOTCH1):c.6466A>G (p.Lys2156Glu)
NM_017617.5(NOTCH1):c.6480G>A (p.Lys2160=)
NM_017617.5(NOTCH1):c.6495C>T (p.Gly2165=)
NM_017617.5(NOTCH1):c.6496C>T (p.Leu2166=) rs2133318278
NM_017617.5(NOTCH1):c.651G>A (p.Arg217=)
NM_017617.5(NOTCH1):c.6532G>A (p.Ala2178Thr) rs1197184303
NM_017617.5(NOTCH1):c.6536G>A (p.Arg2179Gln) rs587778571
NM_017617.5(NOTCH1):c.6556G>A (p.Gly2186Ser)
NM_017617.5(NOTCH1):c.6567C>T (p.Cys2189=)
NM_017617.5(NOTCH1):c.6570G>C (p.Leu2190=) rs200630233
NM_017617.5(NOTCH1):c.657C>T (p.Tyr219=) rs772778125
NM_017617.5(NOTCH1):c.6585C>T (p.Gly2195=) rs1842929880
NM_017617.5(NOTCH1):c.6594G>A (p.Ser2198=)
NM_017617.5(NOTCH1):c.6594G>T (p.Ser2198=) rs774256366
NM_017617.5(NOTCH1):c.6597C>G (p.Pro2199=) rs374640663
NM_017617.5(NOTCH1):c.6597C>T (p.Pro2199=) rs374640663
NM_017617.5(NOTCH1):c.6612G>A (p.Glu2204=)
NM_017617.5(NOTCH1):c.6624C>T (p.Gly2208=)
NM_017617.5(NOTCH1):c.6630G>A (p.Leu2210=) rs1589053186
NM_017617.5(NOTCH1):c.6639G>A (p.Val2213=)
NM_017617.5(NOTCH1):c.6639G>C (p.Val2213=)
NM_017617.5(NOTCH1):c.6647C>T (p.Pro2216Leu)
NM_017617.5(NOTCH1):c.6651A>C (p.Pro2217=)
NM_017617.5(NOTCH1):c.6651A>G (p.Pro2217=)
NM_017617.5(NOTCH1):c.6666G>A (p.Pro2222=) rs202229687
NM_017617.5(NOTCH1):c.6666G>C (p.Pro2222=) rs202229687
NM_017617.5(NOTCH1):c.6684C>T (p.Ser2228=)
NM_017617.5(NOTCH1):c.6687G>A (p.Val2229=)
NM_017617.5(NOTCH1):c.669C>T (p.Ser223=) rs1589071892
NM_017617.5(NOTCH1):c.66G>A (p.Pro22=)
NM_017617.5(NOTCH1):c.66G>C (p.Pro22=)
NM_017617.5(NOTCH1):c.6700C>T (p.Leu2234=)
NM_017617.5(NOTCH1):c.6724C>T (p.Leu2242=) rs1589053091
NM_017617.5(NOTCH1):c.672C>T (p.Pro224=) rs777019253
NM_017617.5(NOTCH1):c.6732C>A (p.Ile2244=)
NM_017617.5(NOTCH1):c.6739C>T (p.Leu2247=) rs377165086
NM_017617.5(NOTCH1):c.6753C>G (p.Ala2251=) rs542875894
NM_017617.5(NOTCH1):c.6759C>G (p.Pro2253=) rs770738954
NM_017617.5(NOTCH1):c.6771G>C (p.Ala2257=)
NM_017617.5(NOTCH1):c.6773T>C (p.Leu2258Pro)
NM_017617.5(NOTCH1):c.6819C>T (p.Leu2273=) rs778759745
NM_017617.5(NOTCH1):c.6852C>A (p.Thr2284=)
NM_017617.5(NOTCH1):c.6879C>T (p.Ala2293=) rs1015422139
NM_017617.5(NOTCH1):c.6880C>T (p.Leu2294=)
NM_017617.5(NOTCH1):c.6882G>A (p.Leu2294=)
NM_017617.5(NOTCH1):c.6894G>A (p.Val2298=)
NM_017617.5(NOTCH1):c.6903C>T (p.Ser2301=) rs1842923327
NM_017617.5(NOTCH1):c.6918T>C (p.Gly2306=)
NM_017617.5(NOTCH1):c.691G>A (p.Gly231Ser) rs1247729687
NM_017617.5(NOTCH1):c.6924C>T (p.Cys2308=) rs756653663
NM_017617.5(NOTCH1):c.6936C>T (p.Ser2312=) rs1190107678
NM_017617.5(NOTCH1):c.6951C>T (p.Gly2317=)
NM_017617.5(NOTCH1):c.6966A>G (p.Gln2322=) rs1318983291
NM_017617.5(NOTCH1):c.6993A>G (p.Ala2331=) rs1554826428
NM_017617.5(NOTCH1):c.6996A>G (p.Pro2332=) rs2133316587
NM_017617.5(NOTCH1):c.6G>A (p.Pro2=) rs2133408666
NM_017617.5(NOTCH1):c.700C>T (p.Arg234Cys) rs567890045
NM_017617.5(NOTCH1):c.7011A>C (p.Thr2337=)
NM_017617.5(NOTCH1):c.7028A>T (p.Gln2343Leu)
NM_017617.5(NOTCH1):c.7045C>G (p.Pro2349Ala) rs1390427898
NM_017617.5(NOTCH1):c.705C>T (p.Pro235=) rs905803751
NM_017617.5(NOTCH1):c.7071C>T (p.Ser2357=) rs61751487
NM_017617.5(NOTCH1):c.7080C>T (p.Ser2360=)
NM_017617.5(NOTCH1):c.7083G>A (p.Gln2361=)
NM_017617.5(NOTCH1):c.7098G>A (p.Gln2366=)
NM_017617.5(NOTCH1):c.7119G>A (p.Leu2373=)
NM_017617.5(NOTCH1):c.7135C>T (p.Leu2379=)
NM_017617.5(NOTCH1):c.7185G>A (p.Gln2395=)
NM_017617.5(NOTCH1):c.721C>T (p.His241Tyr)
NM_017617.5(NOTCH1):c.7230G>A (p.Pro2410=) rs199839390
NM_017617.5(NOTCH1):c.7230G>T (p.Pro2410=) rs199839390
NM_017617.5(NOTCH1):c.7232CAC[4] (p.Pro2415del) rs762336270
NM_017617.5(NOTCH1):c.7251G>T (p.Pro2417=) rs368498380
NM_017617.5(NOTCH1):c.726G>A (p.Glu242=) rs1843394434
NM_017617.5(NOTCH1):c.7312C>T (p.Pro2438Ser)
NM_017617.5(NOTCH1):c.7314G>A (p.Pro2438=)
NM_017617.5(NOTCH1):c.7314G>C (p.Pro2438=)
NM_017617.5(NOTCH1):c.736C>T (p.Leu246=)
NM_017617.5(NOTCH1):c.7377G>A (p.Gln2459=)
NM_017617.5(NOTCH1):c.7382G>T (p.Ser2461Ile) rs750245108
NM_017617.5(NOTCH1):c.7389C>T (p.Ala2463=)
NM_017617.5(NOTCH1):c.7407A>G (p.Pro2469=)
NM_017617.5(NOTCH1):c.7412C>T (p.Ser2471Leu)
NM_017617.5(NOTCH1):c.7416G>T (p.Leu2472=)
NM_017617.5(NOTCH1):c.742+12C>A
NM_017617.5(NOTCH1):c.742+12_742+19del
NM_017617.5(NOTCH1):c.742+13G>A
NM_017617.5(NOTCH1):c.742+15T>C
NM_017617.5(NOTCH1):c.742+19C>T
NM_017617.5(NOTCH1):c.743-10C>T
NM_017617.5(NOTCH1):c.743-12C>G
NM_017617.5(NOTCH1):c.743-19C>T
NM_017617.5(NOTCH1):c.7455C>G (p.Pro2485=)
NM_017617.5(NOTCH1):c.7461G>A (p.Gln2487=) rs1248949192
NM_017617.5(NOTCH1):c.7475C>T (p.Ser2492Leu)
NM_017617.5(NOTCH1):c.747C>T (p.Phe249=) rs2133372901
NM_017617.5(NOTCH1):c.7506A>G (p.Leu2502=)
NM_017617.5(NOTCH1):c.750C>A (p.Thr250=) rs375772590
NM_017617.5(NOTCH1):c.750C>T (p.Thr250=) rs375772590
NM_017617.5(NOTCH1):c.753C>G (p.Gly251=)
NM_017617.5(NOTCH1):c.753C>T (p.Gly251=)
NM_017617.5(NOTCH1):c.7569G>C (p.Ser2523=) rs534623042
NM_017617.5(NOTCH1):c.7575G>A (p.Pro2525=) rs375576856
NM_017617.5(NOTCH1):c.7575G>C (p.Pro2525=) rs375576856
NM_017617.5(NOTCH1):c.7599C>T (p.Ser2533=)
NM_017617.5(NOTCH1):c.7614C>T (p.Ser2538=)
NM_017617.5(NOTCH1):c.7627A>G (p.Met2543Val)
NM_017617.5(NOTCH1):c.7641C>A (p.Ile2547=) rs370124241
NM_017617.5(NOTCH1):c.774C>T (p.Ile258=) rs764542894
NM_017617.5(NOTCH1):c.788G>A (p.Gly263Glu)
NM_017617.5(NOTCH1):c.792C>T (p.Asn264=) rs776687224
NM_017617.5(NOTCH1):c.800A>G (p.Lys267Arg)
NM_017617.5(NOTCH1):c.81C>T (p.Pro27=)
NM_017617.5(NOTCH1):c.840C>G (p.Asn280Lys)
NM_017617.5(NOTCH1):c.844C>T (p.Arg282Cys)
NM_017617.5(NOTCH1):c.865+15C>T
NM_017617.5(NOTCH1):c.865+18C>A
NM_017617.5(NOTCH1):c.865+8T>C
NM_017617.5(NOTCH1):c.866-11G>C
NM_017617.5(NOTCH1):c.866-16C>G
NM_017617.5(NOTCH1):c.866-9T>C rs2133371738
NM_017617.5(NOTCH1):c.901C>T (p.Leu301=) rs1564200379
NM_017617.5(NOTCH1):c.912T>C (p.Asn304=) rs1060504522
NM_017617.5(NOTCH1):c.919C>G (p.Gln307Glu)
NM_017617.5(NOTCH1):c.931A>C (p.Thr311Pro) rs202145498
NM_017617.5(NOTCH1):c.949G>C (p.Gly317Arg)
NM_020436.5(SALL4):c.1018G>A (p.Gly340Ser)
NM_020436.5(SALL4):c.1092G>A (p.Pro364=)
NM_020436.5(SALL4):c.1107G>A (p.Val369=)
NM_020436.5(SALL4):c.1125C>T (p.Asp375=)
NM_020436.5(SALL4):c.1209C>T (p.Ser403=)
NM_020436.5(SALL4):c.1221G>A (p.Glu407=)
NM_020436.5(SALL4):c.1314C>T (p.Asn438=)
NM_020436.5(SALL4):c.1473G>A (p.Ser491=)
NM_020436.5(SALL4):c.1476G>C (p.Gly492=) rs1428240079
NM_020436.5(SALL4):c.1504T>C (p.Ser502Pro)
NM_020436.5(SALL4):c.1518C>G (p.Asp506Glu)
NM_020436.5(SALL4):c.1589C>A (p.Ser530Tyr)
NM_020436.5(SALL4):c.159C>T (p.Asp53=)
NM_020436.5(SALL4):c.1660T>C (p.Leu554=)
NM_020436.5(SALL4):c.1665G>A (p.Val555=)
NM_020436.5(SALL4):c.1671C>T (p.Asn557=)
NM_020436.5(SALL4):c.1698C>T (p.Asn566=)
NM_020436.5(SALL4):c.1764C>T (p.His588=)
NM_020436.5(SALL4):c.1770G>A (p.Gly590=)
NM_020436.5(SALL4):c.1779G>T (p.Pro593=) rs147254025
NM_020436.5(SALL4):c.1851A>G (p.Arg617=)
NM_020436.5(SALL4):c.2094C>T (p.Ser698=)
NM_020436.5(SALL4):c.2114C>T (p.Ser705Phe)
NM_020436.5(SALL4):c.213G>A (p.Thr71=)
NM_020436.5(SALL4):c.2151G>A (p.Ser717=)
NM_020436.5(SALL4):c.2163G>A (p.Thr721=)
NM_020436.5(SALL4):c.2233C>T (p.Arg745Cys)
NM_020436.5(SALL4):c.2253C>T (p.Asn751=)
NM_020436.5(SALL4):c.2352C>A (p.Ser784=)
NM_020436.5(SALL4):c.2370G>A (p.Pro790=) rs570760124
NM_020436.5(SALL4):c.2373C>T (p.Ala791=)
NM_020436.5(SALL4):c.2462-13C>T rs778354482
NM_020436.5(SALL4):c.2496C>T (p.Ala832=)
NM_020436.5(SALL4):c.2640G>A (p.Ser880=) rs17802735
NM_020436.5(SALL4):c.2673T>C (p.Thr891=) rs779929335
NM_020436.5(SALL4):c.2743-5C>T
NM_020436.5(SALL4):c.2832G>A (p.Thr944=)
NM_020436.5(SALL4):c.2872C>T (p.Leu958=)
NM_020436.5(SALL4):c.2943C>T (p.Ala981=)
NM_020436.5(SALL4):c.2977G>A (p.Gly993Arg) rs138891224
NM_020436.5(SALL4):c.2977G>C (p.Gly993Arg) rs138891224
NM_020436.5(SALL4):c.2982G>T (p.Gly994=)
NM_020436.5(SALL4):c.3030C>T (p.Asn1010=)
NM_020436.5(SALL4):c.3062C>T (p.Ser1021Leu)
NM_020436.5(SALL4):c.3081G>A (p.Val1027=)
NM_020436.5(SALL4):c.3135G>T (p.Leu1045=)
NM_020436.5(SALL4):c.3152C>T (p.Ala1051Val)
NM_020436.5(SALL4):c.33C>T (p.His11=)
NM_020436.5(SALL4):c.39C>T (p.Asn13=)
NM_020436.5(SALL4):c.411C>G (p.Gly137=) rs201560082
NM_020436.5(SALL4):c.42G>A (p.Ser14=)
NM_020436.5(SALL4):c.432G>A (p.Lys144=)
NM_020436.5(SALL4):c.477A>G (p.Thr159=)
NM_020436.5(SALL4):c.531C>T (p.Ala177=)
NM_020436.5(SALL4):c.543G>T (p.Val181=)
NM_020436.5(SALL4):c.573G>A (p.Val191=)
NM_020436.5(SALL4):c.588G>A (p.Arg196=)
NM_020436.5(SALL4):c.762C>T (p.Ala254=) rs141546409
NM_020436.5(SALL4):c.789C>T (p.His263=)
NM_020436.5(SALL4):c.888C>T (p.His296=)
NM_020436.5(SALL4):c.891C>T (p.Ala297=)
NM_020436.5(SALL4):c.9G>A (p.Arg3=)
NM_020754.4(ARHGAP31):c.1150G>A (p.Gly384Ser)
NM_020754.4(ARHGAP31):c.3953G>T (p.Gly1318Val) rs529703977
NM_020779.4(WDR35):c.*573A>T rs140069324
NM_020779.4(WDR35):c.*998A>G rs530093062
NM_020779.4(WDR35):c.1008+10A>C rs2103448400
NM_020779.4(WDR35):c.1008+13A>G
NM_020779.4(WDR35):c.105T>C (p.Asp35=)
NM_020779.4(WDR35):c.1101A>G (p.Glu367=)
NM_020779.4(WDR35):c.1140T>C (p.Thr380=) rs202056608
NM_020779.4(WDR35):c.1194+10T>C rs936831337
NM_020779.4(WDR35):c.1194+11C>T
NM_020779.4(WDR35):c.1194+18T>A
NM_020779.4(WDR35):c.1194+18T>G
NM_020779.4(WDR35):c.1302G>A (p.Ser434=)
NM_020779.4(WDR35):c.1354T>C (p.Leu452=)
NM_020779.4(WDR35):c.1371C>T (p.Ile457=)
NM_020779.4(WDR35):c.1400+15A>G
NM_020779.4(WDR35):c.1400+17A>G
NM_020779.4(WDR35):c.1401-11C>A
NM_020779.4(WDR35):c.1401-11C>G
NM_020779.4(WDR35):c.1401-8T>C
NM_020779.4(WDR35):c.142+15G>A
NM_020779.4(WDR35):c.143-7G>A
NM_020779.4(WDR35):c.1471-19A>G rs1671119977
NM_020779.4(WDR35):c.1473C>T (p.Gly491=)
NM_020779.4(WDR35):c.147T>C (p.Asp49=) rs1672416502
NM_020779.4(WDR35):c.1503A>G (p.Ala501=)
NM_020779.4(WDR35):c.1524+11C>T
NM_020779.4(WDR35):c.1525-15A>C rs2103417096
NM_020779.4(WDR35):c.1527T>C (p.Gly509=)
NM_020779.4(WDR35):c.1617C>G (p.Ser539=)
NM_020779.4(WDR35):c.1634+7C>G
NM_020779.4(WDR35):c.1635-19C>T
NM_020779.4(WDR35):c.1674C>T (p.Phe558=)
NM_020779.4(WDR35):c.1698G>A (p.Thr566=) rs773559585
NM_020779.4(WDR35):c.1732T>C (p.Leu578=)
NM_020779.4(WDR35):c.1834T>C (p.Leu612=)
NM_020779.4(WDR35):c.1846-5T>C rs2103410724
NM_020779.4(WDR35):c.1860C>T (p.Thr620=) rs1572333836
NM_020779.4(WDR35):c.1950T>C (p.Asp650=) rs2103406174
NM_020779.4(WDR35):c.2013A>C (p.Gly671=) rs2103406014
NM_020779.4(WDR35):c.2063+7A>T
NM_020779.4(WDR35):c.214+13A>G
NM_020779.4(WDR35):c.2154G>A (p.Lys718=) rs2103405404
NM_020779.4(WDR35):c.2178A>G (p.Leu726=)
NM_020779.4(WDR35):c.2190A>G (p.Ser730=)
NM_020779.4(WDR35):c.2202T>C (p.Ala734=)
NM_020779.4(WDR35):c.2247G>A (p.Thr749=)
NM_020779.4(WDR35):c.2247G>T (p.Thr749=)
NM_020779.4(WDR35):c.2253C>T (p.Leu751=)
NM_020779.4(WDR35):c.2267+15C>T rs1374046467
NM_020779.4(WDR35):c.2267+16G>A
NM_020779.4(WDR35):c.2268-29AATG[5]
NM_020779.4(WDR35):c.2385T>C (p.Ile795=)
NM_020779.4(WDR35):c.2415-4G>A
NM_020779.4(WDR35):c.2430A>G (p.Gln810=)
NM_020779.4(WDR35):c.2446C>A (p.Arg816=) rs374027943
NM_020779.4(WDR35):c.25-10G>C
NM_020779.4(WDR35):c.25-17T>C
NM_020779.4(WDR35):c.2520A>G (p.Ser840=)
NM_020779.4(WDR35):c.2523T>C (p.Leu841=)
NM_020779.4(WDR35):c.2538G>A (p.Lys846=)
NM_020779.4(WDR35):c.2547+13A>C
NM_020779.4(WDR35):c.2547+9T>C
NM_020779.4(WDR35):c.2568C>T (p.Val856=)
NM_020779.4(WDR35):c.2622A>C (p.Pro874=) rs766138190
NM_020779.4(WDR35):c.2646A>G (p.Val882=)
NM_020779.4(WDR35):c.2658+13A>C
NM_020779.4(WDR35):c.2658+14C>T
NM_020779.4(WDR35):c.2659-13A>T
NM_020779.4(WDR35):c.273A>G (p.Glu91=) rs1558360162
NM_020779.4(WDR35):c.2760T>A (p.Leu920=) rs1405610639
NM_020779.4(WDR35):c.2838G>A (p.Glu946=)
NM_020779.4(WDR35):c.2844G>A (p.Lys948=)
NM_020779.4(WDR35):c.2856A>G (p.Lys952=) rs755843830
NM_020779.4(WDR35):c.288T>C (p.Ile96=)
NM_020779.4(WDR35):c.2913T>C (p.His971=) rs561223092
NM_020779.4(WDR35):c.2935C>A (p.Arg979=)
NM_020779.4(WDR35):c.2964+13G>A rs557213514
NM_020779.4(WDR35):c.2964+14T>A
NM_020779.4(WDR35):c.2965-20T>C
NM_020779.4(WDR35):c.2965-5C>T
NM_020779.4(WDR35):c.2994A>G (p.Glu998=) rs2103396034
NM_020779.4(WDR35):c.3003T>A (p.Val1001=)
NM_020779.4(WDR35):c.3036A>C (p.Ala1012=)
NM_020779.4(WDR35):c.3075A>C (p.Ala1025=)
NM_020779.4(WDR35):c.30C>T (p.Ser10=) rs1672670437
NM_020779.4(WDR35):c.3121+10T>C
NM_020779.4(WDR35):c.3122-16G>C
NM_020779.4(WDR35):c.3132G>A (p.Leu1044=)
NM_020779.4(WDR35):c.3162G>A (p.Val1054=) rs2103378366
NM_020779.4(WDR35):c.3198C>G (p.Ala1066=)
NM_020779.4(WDR35):c.3213G>A (p.Gly1071=)
NM_020779.4(WDR35):c.3267A>G (p.Glu1089=)
NM_020779.4(WDR35):c.333C>T (p.Asn111=)
NM_020779.4(WDR35):c.3363-10C>T
NM_020779.4(WDR35):c.3363-11C>A rs2103377636
NM_020779.4(WDR35):c.3388G>A (p.Val1130Ile)
NM_020779.4(WDR35):c.3396A>G (p.Thr1132=)
NM_020779.4(WDR35):c.3432C>T (p.Cys1144=)
NM_020779.4(WDR35):c.3447C>T (p.His1149=)
NM_020779.4(WDR35):c.399A>G (p.Val133=)
NM_020779.4(WDR35):c.402T>C (p.Tyr134=)
NM_020779.4(WDR35):c.436+18C>T
NM_020779.4(WDR35):c.437-15_437-13del
NM_020779.4(WDR35):c.489A>G (p.Thr163=)
NM_020779.4(WDR35):c.498G>A (p.Ala166=)
NM_020779.4(WDR35):c.570+20A>G
NM_020779.4(WDR35):c.570+7_570+10del
NM_020779.4(WDR35):c.571-16A>G
NM_020779.4(WDR35):c.571-3del
NM_020779.4(WDR35):c.732C>T (p.Asp244=)
NM_020779.4(WDR35):c.81G>A (p.Gly27=) rs1303835293
NM_020779.4(WDR35):c.837G>A (p.Gln279=)
NM_020779.4(WDR35):c.842A>C (p.Lys281Thr)
NM_020779.4(WDR35):c.873G>A (p.Pro291=)
NM_020779.4(WDR35):c.882+10T>A
NM_020779.4(WDR35):c.883-12T>G rs1393592663
NM_020779.4(WDR35):c.883-14A>T
NM_020779.4(WDR35):c.90A>G (p.Ala30=)
NM_020779.4(WDR35):c.946C>T (p.Leu316=) rs1671968631
NM_020812.4(DOCK6):c.2505C>T (p.Tyr835=) rs200378092
NM_020812.4(DOCK6):c.3479G>A (p.Arg1160His)
NM_020812.4(DOCK6):c.398C>T (p.Ala133Val)
NM_020812.4(DOCK6):c.5174C>T (p.Ala1725Val)
NM_020928.2(ZSWIM6):c.498A>G (p.Ala166=) rs964738831
NM_022039.4(FBXW4):c.485AGG[6] (p.Glu168del) rs560966094
NM_022039.4(FBXW4):c.822-11C>T rs540055383
NM_022458.4(LMBR1):c.1233T>C (p.Thr411=) rs376730383
NM_023110.3(FGFR1):c.*1982A>C rs536000259
NM_023110.3(FGFR1):c.*494A>G rs562843836
NM_023110.3(FGFR1):c.1011G>A (p.Gly337=)
NM_023110.3(FGFR1):c.1020G>A (p.Thr340=)
NM_023110.3(FGFR1):c.1044A>C (p.Gly348=)
NM_023110.3(FGFR1):c.1062A>G (p.Ala354=)
NM_023110.3(FGFR1):c.1075C>T (p.Leu359=)
NM_023110.3(FGFR1):c.1081+16T>C rs1414301323
NM_023110.3(FGFR1):c.1081+20_1081+22del
NM_023110.3(FGFR1):c.1081+8C>G
NM_023110.3(FGFR1):c.1081+9T>C
NM_023110.3(FGFR1):c.1082-12G>A
NM_023110.3(FGFR1):c.1082-20C>T
NM_023110.3(FGFR1):c.1096C>T (p.Pro366Ser)
NM_023110.3(FGFR1):c.1113G>A (p.Ser371=)
NM_023110.3(FGFR1):c.112G>A (p.Val38Met)
NM_023110.3(FGFR1):c.1167C>T (p.Cys389=) rs1338926241
NM_023110.3(FGFR1):c.1179G>T (p.Ser393=) rs374674165
NM_023110.3(FGFR1):c.1194G>A (p.Lys398=)
NM_023110.3(FGFR1):c.1203T>C (p.Ser401=)
NM_023110.3(FGFR1):c.1239T>C (p.Ala413=)
NM_023110.3(FGFR1):c.1245C>T (p.His415=)
NM_023110.3(FGFR1):c.1248G>A (p.Lys416=)
NM_023110.3(FGFR1):c.1272C>T (p.Arg424=)
NM_023110.3(FGFR1):c.1285-16C>G
NM_023110.3(FGFR1):c.1285-20G>A
NM_023110.3(FGFR1):c.1285-5T>C
NM_023110.3(FGFR1):c.1285-8C>A rs1235765985
NM_023110.3(FGFR1):c.1285-8C>G
NM_023110.3(FGFR1):c.1296C>T (p.Asp432=) rs1377886104
NM_023110.3(FGFR1):c.1324C>G (p.Leu442Val)
NM_023110.3(FGFR1):c.1324C>T (p.Leu442Phe)
NM_023110.3(FGFR1):c.1329G>A (p.Leu443=)
NM_023110.3(FGFR1):c.1343G>A (p.Arg448Gln) rs758138124
NM_023110.3(FGFR1):c.1350C>T (p.Ser450=)
NM_023110.3(FGFR1):c.1356T>C (p.Ser452=)
NM_023110.3(FGFR1):c.1359G>C (p.Gly453=)
NM_023110.3(FGFR1):c.141C>G (p.Pro47=) rs553706848
NM_023110.3(FGFR1):c.141C>T (p.Pro47=)
NM_023110.3(FGFR1):c.1431-10C>T
NM_023110.3(FGFR1):c.1431-19T>A
NM_023110.3(FGFR1):c.1431-20CT[2] rs774739614
NM_023110.3(FGFR1):c.1431-7C>T
NM_023110.3(FGFR1):c.1443C>G (p.Gly481=) rs2150658041
NM_023110.3(FGFR1):c.1443C>T (p.Gly481=)
NM_023110.3(FGFR1):c.1473G>A (p.Gln491=)
NM_023110.3(FGFR1):c.147C>T (p.Asp49=)
NM_023110.3(FGFR1):c.1494C>T (p.Ile498=)
NM_023110.3(FGFR1):c.1509C>T (p.Asp503=)
NM_023110.3(FGFR1):c.1552+12T>C rs777138222
NM_023110.3(FGFR1):c.1552+16G>T
NM_023110.3(FGFR1):c.1552+8A>G
NM_023110.3(FGFR1):c.1553-14C>T
NM_023110.3(FGFR1):c.1617G>A (p.Gly539=)
NM_023110.3(FGFR1):c.162C>G (p.Arg54=)
NM_023110.3(FGFR1):c.1663+11dup
NM_023110.3(FGFR1):c.1663+20G>A
NM_023110.3(FGFR1):c.1664-18C>T
NM_023110.3(FGFR1):c.1664-7C>T
NM_023110.3(FGFR1):c.1680C>T (p.Ile560=) rs1019589019
NM_023110.3(FGFR1):c.1686G>A (p.Glu562=)
NM_023110.3(FGFR1):c.1689T>C (p.Tyr563=) rs2150591250
NM_023110.3(FGFR1):c.1716C>T (p.Tyr572=)
NM_023110.3(FGFR1):c.1731G>A (p.Arg577=)
NM_023110.3(FGFR1):c.1743G>A (p.Leu581=)
NM_023110.3(FGFR1):c.1758C>T (p.Asn586=)
NM_023110.3(FGFR1):c.1770C>T (p.Asn590=) rs2150585961
NM_023110.3(FGFR1):c.1815C>T (p.Tyr605=) rs374740971
NM_023110.3(FGFR1):c.182T>C (p.Val61Ala)
NM_023110.3(FGFR1):c.1845C>A (p.Ala615=)
NM_023110.3(FGFR1):c.1854+14A>C
NM_023110.3(FGFR1):c.1854+17C>T
NM_023110.3(FGFR1):c.1854+9C>T
NM_023110.3(FGFR1):c.1855-14_1855-11del
NM_023110.3(FGFR1):c.1855-5C>T
NM_023110.3(FGFR1):c.1855-8T>C
NM_023110.3(FGFR1):c.1875A>G (p.Ala625=)
NM_023110.3(FGFR1):c.1932C>T (p.Leu644=)
NM_023110.3(FGFR1):c.1944T>C (p.Ile648=)
NM_023110.3(FGFR1):c.194A>G (p.Asn65Ser)
NM_023110.3(FGFR1):c.1977+12C>G
NM_023110.3(FGFR1):c.1977+15G>A
NM_023110.3(FGFR1):c.1977+19G>A
NM_023110.3(FGFR1):c.1977+20C>T
NM_023110.3(FGFR1):c.1978-15C>T
NM_023110.3(FGFR1):c.1978-17C>T
NM_023110.3(FGFR1):c.2024G>C (p.Arg675Pro) rs771078736
NM_023110.3(FGFR1):c.2046T>C (p.Asp682=)
NM_023110.3(FGFR1):c.2048+13T>C
NM_023110.3(FGFR1):c.2049-16C>G
NM_023110.3(FGFR1):c.2061G>C (p.Gly687=)
NM_023110.3(FGFR1):c.2067C>T (p.Leu689=)
NM_023110.3(FGFR1):c.207C>T (p.Asp69=)
NM_023110.3(FGFR1):c.2086C>T (p.Leu696=)
NM_023110.3(FGFR1):c.2160C>T (p.Asp720=)
NM_023110.3(FGFR1):c.2163G>A (p.Lys721=)
NM_023110.3(FGFR1):c.2186+11G>A
NM_023110.3(FGFR1):c.2186+12_2186+14del rs1218085532
NM_023110.3(FGFR1):c.2186+17G>A
NM_023110.3(FGFR1):c.2186+20G>A
NM_023110.3(FGFR1):c.2186+9G>A
NM_023110.3(FGFR1):c.2187-15A>G
NM_023110.3(FGFR1):c.2187-16T>C
NM_023110.3(FGFR1):c.2187-18C>G rs2150525040
NM_023110.3(FGFR1):c.2187-19C>A rs376583717
NM_023110.3(FGFR1):c.2187-19C>T rs376583717
NM_023110.3(FGFR1):c.2187-4G>A
NM_023110.3(FGFR1):c.2187-7G>A
NM_023110.3(FGFR1):c.2205C>T (p.Asp735=)
NM_023110.3(FGFR1):c.222G>A (p.Ala74=)
NM_023110.3(FGFR1):c.222G>C (p.Ala74=) rs748896706
NM_023110.3(FGFR1):c.2248C>T (p.Leu750=)
NM_023110.3(FGFR1):c.2259C>T (p.Asp753=)
NM_023110.3(FGFR1):c.2283C>T (p.Thr761=)
NM_023110.3(FGFR1):c.228C>T (p.Ser76=)
NM_023110.3(FGFR1):c.2292+12C>T
NM_023110.3(FGFR1):c.2292+13G>A
NM_023110.3(FGFR1):c.2292+13G>T
NM_023110.3(FGFR1):c.2292+16C>A
NM_023110.3(FGFR1):c.2292+9G>A rs2150517873
NM_023110.3(FGFR1):c.2293-12C>G
NM_023110.3(FGFR1):c.2293-12C>T
NM_023110.3(FGFR1):c.2334C>G (p.Pro778=)
NM_023110.3(FGFR1):c.2367C>T (p.Ser789=)
NM_023110.3(FGFR1):c.2370A>G (p.Ser790=)
NM_023110.3(FGFR1):c.2382C>T (p.Ser794=)
NM_023110.3(FGFR1):c.2406C>T (p.Pro802=) rs573344794
NM_023110.3(FGFR1):c.2430C>T (p.His810=)
NM_023110.3(FGFR1):c.2433A>T (p.Pro811=) rs770921947
NM_023110.3(FGFR1):c.256G>A (p.Val86Met) rs1404670039
NM_023110.3(FGFR1):c.262G>T (p.Val88Leu)
NM_023110.3(FGFR1):c.279C>G (p.Pro93=) rs781034707
NM_023110.3(FGFR1):c.27C>T (p.Phe9=)
NM_023110.3(FGFR1):c.303C>T (p.Cys101=)
NM_023110.3(FGFR1):c.309C>T (p.Thr103=)
NM_023110.3(FGFR1):c.311G>A (p.Ser104Asn)
NM_023110.3(FGFR1):c.321G>A (p.Ser107=)
NM_023110.3(FGFR1):c.321G>C (p.Ser107=)
NM_023110.3(FGFR1):c.324C>T (p.Gly108=)
NM_023110.3(FGFR1):c.330C>T (p.Asp110=)
NM_023110.3(FGFR1):c.33T>C (p.Ala11=)
NM_023110.3(FGFR1):c.342C>T (p.Phe114=)
NM_023110.3(FGFR1):c.358+11A>G
NM_023110.3(FGFR1):c.358+18G>A rs375458309
NM_023110.3(FGFR1):c.358+19C>A
NM_023110.3(FGFR1):c.358+9C>A
NM_023110.3(FGFR1):c.359-15TTC[2] rs768778460
NM_023110.3(FGFR1):c.359-18C>T rs1177584027
NM_023110.3(FGFR1):c.359-5C>G
NM_023110.3(FGFR1):c.363T>A (p.Ala121=)
NM_023110.3(FGFR1):c.381TGA[5] (p.Asp133del) rs138489552
NM_023110.3(FGFR1):c.411G>A (p.Glu137=) rs1010621186
NM_023110.3(FGFR1):c.42C>T (p.Val14=)
NM_023110.3(FGFR1):c.448+15C>G
NM_023110.3(FGFR1):c.471C>G (p.Ser157=) rs376497452
NM_023110.3(FGFR1):c.501A>C (p.Ala167=)
NM_023110.3(FGFR1):c.51A>G (p.Thr17=)
NM_023110.3(FGFR1):c.525G>A (p.Lys175=)
NM_023110.3(FGFR1):c.534C>T (p.Cys178=)
NM_023110.3(FGFR1):c.546G>A (p.Gly182=)
NM_023110.3(FGFR1):c.597T>C (p.Pro199=)
NM_023110.3(FGFR1):c.621+14C>A
NM_023110.3(FGFR1):c.621+17G>A
NM_023110.3(FGFR1):c.621+18C>A
NM_023110.3(FGFR1):c.621+18C>T
NM_023110.3(FGFR1):c.622-9del
NM_023110.3(FGFR1):c.687C>T (p.Thr229=)
NM_023110.3(FGFR1):c.696G>A (p.Val232=)
NM_023110.3(FGFR1):c.711C>T (p.Gly237=)
NM_023110.3(FGFR1):c.714C>T (p.Ser238=) rs1586315279
NM_023110.3(FGFR1):c.745+10C>G
NM_023110.3(FGFR1):c.745+13del
NM_023110.3(FGFR1):c.746-13C>T
NM_023110.3(FGFR1):c.746-14C>G rs1171714073
NM_023110.3(FGFR1):c.746-14C>T
NM_023110.3(FGFR1):c.746-5C>G rs1820095016
NM_023110.3(FGFR1):c.75G>C (p.Pro25=) rs17175757
NM_023110.3(FGFR1):c.789C>T (p.Ala263=) rs780944776
NM_023110.3(FGFR1):c.805C>T (p.Leu269=)
NM_023110.3(FGFR1):c.819G>C (p.Val273=) rs779056585
NM_023110.3(FGFR1):c.849G>A (p.Pro283=)
NM_023110.3(FGFR1):c.861C>T (p.Ile287=) rs1370490922
NM_023110.3(FGFR1):c.870A>G (p.Leu290=) rs751538019
NM_023110.3(FGFR1):c.91+16G>C
NM_023110.3(FGFR1):c.91+19G>T
NM_023110.3(FGFR1):c.91+20C>T
NM_023110.3(FGFR1):c.92-13G>T
NM_023110.3(FGFR1):c.92-19G>C
NM_023110.3(FGFR1):c.92-6C>G
NM_023110.3(FGFR1):c.936+13C>T
NM_023110.3(FGFR1):c.936+7A>G
NM_023110.3(FGFR1):c.937-11G>T
NM_023110.3(FGFR1):c.937-17T>C
NM_023110.3(FGFR1):c.954C>T (p.Thr318=)
NM_023110.3(FGFR1):c.957C>G (p.Thr319=)
NM_023110.3(FGFR1):c.957C>T (p.Thr319=)
NM_025132.4(WDR19):c.1791T>C (p.Ile597=) rs2109358310
NM_025132.4(WDR19):c.2364-4del rs750106753
NM_025132.4(WDR19):c.2646-16G>T rs750485530
NM_025132.4(WDR19):c.2876+10T>A rs773692164
NM_025132.4(WDR19):c.3951T>C (p.Cys1317=) rs564992065
NM_025132.4(WDR19):c.513G>T (p.Thr171=) rs754543019
NM_025132.4(WDR19):c.6+6_6+8del rs748952637
NM_052989.3(IFT122):c.1008+17T>G rs2077967767
NM_052989.3(IFT122):c.1008+9A>G
NM_052989.3(IFT122):c.1009-12C>G
NM_052989.3(IFT122):c.1009-17G>A
NM_052989.3(IFT122):c.1009-5C>T
NM_052989.3(IFT122):c.1044C>T (p.Tyr348=)
NM_052989.3(IFT122):c.108+15T>C
NM_052989.3(IFT122):c.109-10C>T rs2107928880
NM_052989.3(IFT122):c.109-14G>C
NM_052989.3(IFT122):c.1092C>T (p.Ala364=)
NM_052989.3(IFT122):c.1128C>T (p.His376=)
NM_052989.3(IFT122):c.1147+12_1147+17del
NM_052989.3(IFT122):c.1188C>T (p.Ile396=) rs1030774694
NM_052989.3(IFT122):c.1272C>T (p.Tyr424=)
NM_052989.3(IFT122):c.1275G>A (p.Arg425=) rs2108293656
NM_052989.3(IFT122):c.1288A>G (p.Ile430Val)
NM_052989.3(IFT122):c.132C>G (p.Thr44=) rs371772807
NM_052989.3(IFT122):c.1350+20A>G
NM_052989.3(IFT122):c.1350+7A>G
NM_052989.3(IFT122):c.1350+9C>A
NM_052989.3(IFT122):c.1386G>A (p.Val462=)
NM_052989.3(IFT122):c.1393C>A (p.Arg465=)
NM_052989.3(IFT122):c.1410G>A (p.Glu470=)
NM_052989.3(IFT122):c.1461C>A (p.Gly487=)
NM_052989.3(IFT122):c.1488+16C>A rs371107052
NM_052989.3(IFT122):c.1488+16C>T
NM_052989.3(IFT122):c.1488+19C>A
NM_052989.3(IFT122):c.1489-17C>T
NM_052989.3(IFT122):c.1524C>T (p.Ile508=)
NM_052989.3(IFT122):c.1572C>G (p.Ala524=)
NM_052989.3(IFT122):c.1590C>A (p.Ala530=) rs755545448
NM_052989.3(IFT122):c.1635C>T (p.Thr545=)
NM_052989.3(IFT122):c.1644G>T (p.Leu548=) rs1211494967
NM_052989.3(IFT122):c.1653+18G>A
NM_052989.3(IFT122):c.1654-16T>C rs2078911744
NM_052989.3(IFT122):c.1654-20C>G rs774202017
NM_052989.3(IFT122):c.1659A>G (p.Pro553=)
NM_052989.3(IFT122):c.165T>C (p.Thr55=)
NM_052989.3(IFT122):c.1704C>G (p.Leu568=)
NM_052989.3(IFT122):c.1713G>T (p.Ser571=) rs150174636
NM_052989.3(IFT122):c.1758C>T (p.His586=)
NM_052989.3(IFT122):c.1785C>T (p.Val595=)
NM_052989.3(IFT122):c.180A>G (p.Ala60=)
NM_052989.3(IFT122):c.1848G>A (p.Pro616=)
NM_052989.3(IFT122):c.1851+8G>A
NM_052989.3(IFT122):c.1852-11A>C
NM_052989.3(IFT122):c.1852-13T>C
NM_052989.3(IFT122):c.1852-14A>G
NM_052989.3(IFT122):c.1852-8T>C
NM_052989.3(IFT122):c.186G>A (p.Ala62=)
NM_052989.3(IFT122):c.1915T>C (p.Leu639=)
NM_052989.3(IFT122):c.194-17T>C
NM_052989.3(IFT122):c.194-4T>C
NM_052989.3(IFT122):c.1950C>G (p.Ala650=)
NM_052989.3(IFT122):c.1959G>A (p.Ala653=)
NM_052989.3(IFT122):c.1983A>G (p.Thr661=)
NM_052989.3(IFT122):c.1992+10T>C
NM_052989.3(IFT122):c.1992+17C>T
NM_052989.3(IFT122):c.1993-11C>A
NM_052989.3(IFT122):c.1993-13T>C
NM_052989.3(IFT122):c.1993-16T>C
NM_052989.3(IFT122):c.1993-7G>A rs2285354
NM_052989.3(IFT122):c.1993-8_1993-7delinsTC rs2108448349
NM_052989.3(IFT122):c.2112G>A (p.Gly704=)
NM_052989.3(IFT122):c.2121T>C (p.His707=) rs763504971
NM_052989.3(IFT122):c.2127C>T (p.Ala709=)
NM_052989.3(IFT122):c.2148T>C (p.Ser716=) rs2108483305
NM_052989.3(IFT122):c.2163C>T (p.Leu721=)
NM_052989.3(IFT122):c.2181C>T (p.Thr727=) rs545131069
NM_052989.3(IFT122):c.2208+7T>C
NM_052989.3(IFT122):c.2226A>T (p.Gly742=)
NM_052989.3(IFT122):c.2232C>T (p.Pro744=)
NM_052989.3(IFT122):c.2301C>G (p.Ala767=) rs540474261
NM_052989.3(IFT122):c.2301C>T (p.Ala767=)
NM_052989.3(IFT122):c.2331C>T (p.His777=)
NM_052989.3(IFT122):c.2375+14C>T
NM_052989.3(IFT122):c.2382C>T (p.Ile794=)
NM_052989.3(IFT122):c.2388C>T (p.Ile796=)
NM_052989.3(IFT122):c.2409T>C (p.Ala803=)
NM_052989.3(IFT122):c.2430G>A (p.Leu810=)
NM_052989.3(IFT122):c.243A>G (p.Thr81=)
NM_052989.3(IFT122):c.2452C>T (p.Leu818=)
NM_052989.3(IFT122):c.2454G>A (p.Leu818=)
NM_052989.3(IFT122):c.2496T>C (p.Gly832=)
NM_052989.3(IFT122):c.2547+18C>G
NM_052989.3(IFT122):c.2548-11C>T
NM_052989.3(IFT122):c.2548-18A>G
NM_052989.3(IFT122):c.2548-19C>A
NM_052989.3(IFT122):c.2548-19C>T
NM_052989.3(IFT122):c.2559G>A (p.Leu853=)
NM_052989.3(IFT122):c.2568G>A (p.Lys856=)
NM_052989.3(IFT122):c.2601G>A (p.Pro867=)
NM_052989.3(IFT122):c.2650+20A>C rs148941657
NM_052989.3(IFT122):c.2650+20A>G
NM_052989.3(IFT122):c.2652G>T (p.Ala884=)
NM_052989.3(IFT122):c.2676A>G (p.Arg892=)
NM_052989.3(IFT122):c.2703C>A (p.Leu901=)
NM_052989.3(IFT122):c.272+14G>T
NM_052989.3(IFT122):c.2724G>A (p.Glu908=)
NM_052989.3(IFT122):c.273-16G>C
NM_052989.3(IFT122):c.273-212C>T
NM_052989.3(IFT122):c.273-245C>T
NM_052989.3(IFT122):c.273-323C>T
NM_052989.3(IFT122):c.273-388T>A rs1009331489
NM_052989.3(IFT122):c.2778C>T (p.Leu926=)
NM_052989.3(IFT122):c.2792-13C>T
NM_052989.3(IFT122):c.2792-14G>A
NM_052989.3(IFT122):c.2799C>T (p.Ala933=)
NM_052989.3(IFT122):c.2886+19C>T
NM_052989.3(IFT122):c.2887-15T>A
NM_052989.3(IFT122):c.2913T>C (p.Pro971=)
NM_052989.3(IFT122):c.2943G>A (p.Leu981=)
NM_052989.3(IFT122):c.2970C>T (p.Pro990=)
NM_052989.3(IFT122):c.2987+12C>G
NM_052989.3(IFT122):c.2987+17C>A
NM_052989.3(IFT122):c.2987+17C>G
NM_052989.3(IFT122):c.2988-13C>T
NM_052989.3(IFT122):c.2988-5G>A
NM_052989.3(IFT122):c.3003C>G (p.Thr1001=)
NM_052989.3(IFT122):c.3027C>A (p.Leu1009=)
NM_052989.3(IFT122):c.3123C>T (p.Thr1041=)
NM_052989.3(IFT122):c.3147C>T (p.Asp1049=)
NM_052989.3(IFT122):c.3153+12G>A
NM_052989.3(IFT122):c.3153+15C>A
NM_052989.3(IFT122):c.3154-12G>A
NM_052989.3(IFT122):c.3154-15G>T
NM_052989.3(IFT122):c.3192C>T (p.Asn1064=)
NM_052989.3(IFT122):c.3195G>A (p.Pro1065=)
NM_052989.3(IFT122):c.3240C>T (p.Pro1080=)
NM_052989.3(IFT122):c.3255C>T (p.Ala1085=)
NM_052989.3(IFT122):c.3265+7C>G
NM_052989.3(IFT122):c.3265+8C>G
NM_052989.3(IFT122):c.3266-11A>G
NM_052989.3(IFT122):c.3318A>G (p.Glu1106=)
NM_052989.3(IFT122):c.3354C>T (p.Pro1118=)
NM_052989.3(IFT122):c.3378G>A (p.Glu1126=)
NM_052989.3(IFT122):c.3381T>C (p.Ile1127=)
NM_052989.3(IFT122):c.3384A>T (p.Ala1128=)
NM_052989.3(IFT122):c.3392-4C>G
NM_052989.3(IFT122):c.3392-5T>G rs2108728720
NM_052989.3(IFT122):c.3392-6C>T
NM_052989.3(IFT122):c.3471+11C>T
NM_052989.3(IFT122):c.3471+13C>T
NM_052989.3(IFT122):c.3471+7G>T
NM_052989.3(IFT122):c.3471+7_3471+34del rs762356612
NM_052989.3(IFT122):c.3472-19C>A
NM_052989.3(IFT122):c.349+12T>G
NM_052989.3(IFT122):c.350-14A>G
NM_052989.3(IFT122):c.350-9G>A
NM_052989.3(IFT122):c.3504G>A (p.Val1168=)
NM_052989.3(IFT122):c.3520C>T (p.Arg1174Cys)
NM_052989.3(IFT122):c.3586C>T (p.Arg1196Cys) rs201590142
NM_052989.3(IFT122):c.3630C>T (p.Cys1210=)
NM_052989.3(IFT122):c.3637-11T>C
NM_052989.3(IFT122):c.3637-13T>C rs2084584710
NM_052989.3(IFT122):c.3681C>T (p.Gly1227=)
NM_052989.3(IFT122):c.3687C>T (p.Cys1229=)
NM_052989.3(IFT122):c.3720C>T (p.Gly1240=)
NM_052989.3(IFT122):c.3723A>C (p.Pro1241=)
NM_052989.3(IFT122):c.39C>T (p.His13=)
NM_052989.3(IFT122):c.41+16G>A
NM_052989.3(IFT122):c.41+8G>A
NM_052989.3(IFT122):c.411C>T (p.Cys137=)
NM_052989.3(IFT122):c.416+13C>T
NM_052989.3(IFT122):c.416+19del rs2108102299
NM_052989.3(IFT122):c.417-6A>G
NM_052989.3(IFT122):c.42-6G>T rs757753414
NM_052989.3(IFT122):c.445C>T (p.Leu149=)
NM_052989.3(IFT122):c.462G>A (p.Gly154=)
NM_052989.3(IFT122):c.507C>T (p.Ile169=) rs139962927
NM_052989.3(IFT122):c.516G>A (p.Pro172=)
NM_052989.3(IFT122):c.516G>T (p.Pro172=) rs748272790
NM_052989.3(IFT122):c.563+18C>T
NM_052989.3(IFT122):c.567A>G (p.Arg189=)
NM_052989.3(IFT122):c.588C>T (p.Asn196=)
NM_052989.3(IFT122):c.612T>C (p.Asp204=)
NM_052989.3(IFT122):c.690A>G (p.Ala230=)
NM_052989.3(IFT122):c.72A>G (p.Gly24=)
NM_052989.3(IFT122):c.795C>T (p.Phe265=) rs2077133706
NM_052989.3(IFT122):c.816+10C>A
NM_052989.3(IFT122):c.816+12T>C rs2077135597
NM_052989.3(IFT122):c.894G>A (p.Gly298=) rs1300966652
NM_052989.3(IFT122):c.903C>T (p.Asp301=)
NM_052989.3(IFT122):c.993G>A (p.Pro331=)
NM_147127.5(EVC2):c.1005+11C>G
NM_147127.5(EVC2):c.1005+14G>A
NM_147127.5(EVC2):c.1005+15A>C
NM_147127.5(EVC2):c.1005+17G>A
NM_147127.5(EVC2):c.1005+7C>G rs1453329419
NM_147127.5(EVC2):c.1006-13A>C
NM_147127.5(EVC2):c.1006-15G>A
NM_147127.5(EVC2):c.1006-15G>T rs371325268
NM_147127.5(EVC2):c.1006-16C>T
NM_147127.5(EVC2):c.1006-17C>A
NM_147127.5(EVC2):c.1006-17C>G
NM_147127.5(EVC2):c.1006-5T>C
NM_147127.5(EVC2):c.1006-5dup
NM_147127.5(EVC2):c.1006-6C>A
NM_147127.5(EVC2):c.1017T>C (p.Tyr339=)
NM_147127.5(EVC2):c.1020G>A (p.Glu340=)
NM_147127.5(EVC2):c.1041G>T (p.Pro347=)
NM_147127.5(EVC2):c.1047C>T (p.Thr349=) rs2108896061
NM_147127.5(EVC2):c.1050A>G (p.Ser350=)
NM_147127.5(EVC2):c.1059C>A (p.Gly353=) rs77793386
NM_147127.5(EVC2):c.1086C>T (p.Asp362=) rs1719017773
NM_147127.5(EVC2):c.1102C>T (p.Leu368=)
NM_147127.5(EVC2):c.1110C>T (p.Ser370=) rs748718225
NM_147127.5(EVC2):c.111C>T (p.Pro37=)
NM_147127.5(EVC2):c.1140A>G (p.Leu380=)
NM_147127.5(EVC2):c.1145+19A>G rs1560206472
NM_147127.5(EVC2):c.1146-11G>A
NM_147127.5(EVC2):c.1146-11G>T
NM_147127.5(EVC2):c.1146-18G>T
NM_147127.5(EVC2):c.1146-19T>C
NM_147127.5(EVC2):c.1146-19T>G
NM_147127.5(EVC2):c.1146-5C>T
NM_147127.5(EVC2):c.1146-9G>C rs774847750
NM_147127.5(EVC2):c.114C>T (p.Arg38=)
NM_147127.5(EVC2):c.1152G>A (p.Glu384=)
NM_147127.5(EVC2):c.1161C>G (p.Thr387=) rs1717278166
NM_147127.5(EVC2):c.1170G>A (p.Arg390=)
NM_147127.5(EVC2):c.1173A>C (p.Ala391=) rs1276908557
NM_147127.5(EVC2):c.1176T>C (p.Asp392=) rs1577195366
NM_147127.5(EVC2):c.1197A>C (p.Arg399=)
NM_147127.5(EVC2):c.1206C>A (p.Ile402=)
NM_147127.5(EVC2):c.1206C>T (p.Ile402=)
NM_147127.5(EVC2):c.1209C>T (p.Ser403=)
NM_147127.5(EVC2):c.120C>T (p.Arg40=)
NM_147127.5(EVC2):c.1212G>A (p.Lys404=)
NM_147127.5(EVC2):c.1215T>C (p.Asp405=)
NM_147127.5(EVC2):c.1218C>A (p.Ile406=)
NM_147127.5(EVC2):c.1230G>A (p.Leu410=) rs1302326375
NM_147127.5(EVC2):c.1230G>T (p.Leu410=) rs1302326375
NM_147127.5(EVC2):c.123C>T (p.Pro41=) rs1722355414
NM_147127.5(EVC2):c.1245C>T (p.Thr415=) rs747208576
NM_147127.5(EVC2):c.1254C>T (p.Gly418=) rs2108864185
NM_147127.5(EVC2):c.1257C>T (p.His419=) rs1717268176
NM_147127.5(EVC2):c.1260C>G (p.Leu420=) rs150859940
NM_147127.5(EVC2):c.1260C>T (p.Leu420=) rs150859940
NM_147127.5(EVC2):c.1263A>T (p.Ser421=)
NM_147127.5(EVC2):c.1266C>T (p.Pro422=)
NM_147127.5(EVC2):c.1302G>A (p.Lys434=)
NM_147127.5(EVC2):c.1309C>T (p.Leu437=) rs1434202396
NM_147127.5(EVC2):c.1311A>C (p.Leu437=) rs77131452
NM_147127.5(EVC2):c.1315C>T (p.Leu439=)
NM_147127.5(EVC2):c.1317G>T (p.Leu439=)
NM_147127.5(EVC2):c.132G>A (p.Ala44=)
NM_147127.5(EVC2):c.1332A>G (p.Gln444=)
NM_147127.5(EVC2):c.1335G>A (p.Glu445=) rs2108863935
NM_147127.5(EVC2):c.1359A>G (p.Ala453=)
NM_147127.5(EVC2):c.1359A>T (p.Ala453=) rs1478613738
NM_147127.5(EVC2):c.1360T>C (p.Leu454=) rs2108863865
NM_147127.5(EVC2):c.1362G>A (p.Leu454=)
NM_147127.5(EVC2):c.1371A>G (p.Glu457=)
NM_147127.5(EVC2):c.1383A>G (p.Glu461=)
NM_147127.5(EVC2):c.1386A>G (p.Thr462=)
NM_147127.5(EVC2):c.138A>G (p.Pro46=)
NM_147127.5(EVC2):c.1395G>A (p.Lys465=)
NM_147127.5(EVC2):c.1401A>G (p.Glu467=)
NM_147127.5(EVC2):c.1413G>A (p.Gln471=) rs2108863731
NM_147127.5(EVC2):c.141C>T (p.Pro47=)
NM_147127.5(EVC2):c.142C>A (p.Arg48=)
NM_147127.5(EVC2):c.1443A>G (p.Glu481=)
NM_147127.5(EVC2):c.144G>A (p.Arg48=) rs2151750018
NM_147127.5(EVC2):c.1450C>T (p.Leu484=)
NM_147127.5(EVC2):c.1470+10G>A rs1198809289
NM_147127.5(EVC2):c.1470+11_1470+19del
NM_147127.5(EVC2):c.1470+12C>G
NM_147127.5(EVC2):c.1470+7C>T
NM_147127.5(EVC2):c.1470+8A>G rs761155878
NM_147127.5(EVC2):c.1471-10C>T rs1439878397
NM_147127.5(EVC2):c.1471-12T>G
NM_147127.5(EVC2):c.1471-13T>C
NM_147127.5(EVC2):c.1471-17C>T
NM_147127.5(EVC2):c.1471-20T>C
NM_147127.5(EVC2):c.1471-4C>G rs947596816
NM_147127.5(EVC2):c.1471-5T>A rs1043283150
NM_147127.5(EVC2):c.1471-5T>C rs1043283150
NM_147127.5(EVC2):c.1471-8C>G rs2108851855
NM_147127.5(EVC2):c.1497G>A (p.Leu499=)
NM_147127.5(EVC2):c.1498C>A (p.Arg500=) rs148248777
NM_147127.5(EVC2):c.1503C>A (p.Thr501=) rs369530549
NM_147127.5(EVC2):c.1503C>T (p.Thr501=)
NM_147127.5(EVC2):c.1506C>G (p.Leu502=)
NM_147127.5(EVC2):c.1509T>C (p.His503=) rs771803987
NM_147127.5(EVC2):c.150C>G (p.Pro50=)
NM_147127.5(EVC2):c.150C>T (p.Pro50=) rs1347650453
NM_147127.5(EVC2):c.1518A>G (p.Glu506=)
NM_147127.5(EVC2):c.1539T>C (p.Ser513=)
NM_147127.5(EVC2):c.1563C>T (p.Asp521=)
NM_147127.5(EVC2):c.1566T>C (p.Phe522=)
NM_147127.5(EVC2):c.1578C>T (p.His526=)
NM_147127.5(EVC2):c.159T>C (p.Ala53=) rs2151749984
NM_147127.5(EVC2):c.1611G>A (p.Leu537=)
NM_147127.5(EVC2):c.1611G>T (p.Leu537=)
NM_147127.5(EVC2):c.1614C>T (p.His538=)
NM_147127.5(EVC2):c.1617T>C (p.Ser539=)
NM_147127.5(EVC2):c.1626T>C (p.Phe542=)
NM_147127.5(EVC2):c.1629C>G (p.Thr543=)
NM_147127.5(EVC2):c.1629C>T (p.Thr543=)
NM_147127.5(EVC2):c.1659A>G (p.Glu553=)
NM_147127.5(EVC2):c.1671G>A (p.Glu557=) rs2108851360
NM_147127.5(EVC2):c.1686G>A (p.Leu562=)
NM_147127.5(EVC2):c.1686G>T (p.Leu562=) rs1236419324
NM_147127.5(EVC2):c.1689G>A (p.Leu563=) rs2108851319
NM_147127.5(EVC2):c.1710+12G>A
NM_147127.5(EVC2):c.1710+14C>A rs755278587
NM_147127.5(EVC2):c.1710+14C>T
NM_147127.5(EVC2):c.1710+17G>A
NM_147127.5(EVC2):c.1710+17G>T
NM_147127.5(EVC2):c.1710+18C>T
NM_147127.5(EVC2):c.1710+7C>T rs2108851268
NM_147127.5(EVC2):c.1710+8A>C
NM_147127.5(EVC2):c.1710+8A>G
NM_147127.5(EVC2):c.1711-10del rs35103377
NM_147127.5(EVC2):c.1711-14T>C
NM_147127.5(EVC2):c.1711-18T>G
NM_147127.5(EVC2):c.1711-19T>A
NM_147127.5(EVC2):c.1711-20dup rs35103377
NM_147127.5(EVC2):c.1711-9A>C rs1716315517
NM_147127.5(EVC2):c.1734C>T (p.Asp578=)
NM_147127.5(EVC2):c.1749T>C (p.Ser583=)
NM_147127.5(EVC2):c.174C>T (p.Pro58=) rs1317163956
NM_147127.5(EVC2):c.1752G>A (p.Lys584=) rs762593768
NM_147127.5(EVC2):c.1762C>T (p.Leu588=)
NM_147127.5(EVC2):c.1764A>C (p.Leu588=)
NM_147127.5(EVC2):c.1767T>C (p.Ser589=) rs2108847209
NM_147127.5(EVC2):c.1771A>C (p.Arg591=)
NM_147127.5(EVC2):c.1773A>G (p.Arg591=)
NM_147127.5(EVC2):c.1788A>G (p.Glu596=) rs2108847187
NM_147127.5(EVC2):c.1791T>C (p.Tyr597=) rs1716303868
NM_147127.5(EVC2):c.1794G>T (p.Leu598=) rs1577179214
NM_147127.5(EVC2):c.1797C>T (p.Val599=) rs2108847158
NM_147127.5(EVC2):c.1806C>G (p.Leu602=) rs1172959079
NM_147127.5(EVC2):c.1806C>T (p.Leu602=)
NM_147127.5(EVC2):c.1812A>G (p.Ser604=) rs781487000
NM_147127.5(EVC2):c.1821C>A (p.Thr607=)
NM_147127.5(EVC2):c.1833C>A (p.Gly611=) rs879125910
NM_147127.5(EVC2):c.183G>A (p.Arg61=)
NM_147127.5(EVC2):c.1848T>G (p.Ala616=)
NM_147127.5(EVC2):c.1854C>G (p.Ala618=) rs139729159
NM_147127.5(EVC2):c.1854C>T (p.Ala618=) rs139729159
NM_147127.5(EVC2):c.1857G>A (p.Gln619=) rs2108847045
NM_147127.5(EVC2):c.1860G>C (p.Leu620=) rs763402206
NM_147127.5(EVC2):c.1866C>T (p.His622=) rs1300374301
NM_147127.5(EVC2):c.1869C>T (p.Leu623=) rs557920458
NM_147127.5(EVC2):c.186C>T (p.Ile62=)
NM_147127.5(EVC2):c.1878G>A (p.Lys626=) rs1001648119
NM_147127.5(EVC2):c.1886+10A>C rs2108846937
NM_147127.5(EVC2):c.1886+13A>G
NM_147127.5(EVC2):c.1886+16G>A
NM_147127.5(EVC2):c.1886+9C>G
NM_147127.5(EVC2):c.1886+9C>T
NM_147127.5(EVC2):c.1887-12C>T
NM_147127.5(EVC2):c.1887-15A>G
NM_147127.5(EVC2):c.1887-16C>T
NM_147127.5(EVC2):c.1887-17A>C
NM_147127.5(EVC2):c.1887-18T>C
NM_147127.5(EVC2):c.1887-19T>G
NM_147127.5(EVC2):c.1887-4C>G rs376809175
NM_147127.5(EVC2):c.1887-4C>T
NM_147127.5(EVC2):c.1893G>A (p.Gly631=) rs1363412492
NM_147127.5(EVC2):c.1923A>T (p.Leu641=) rs1193715900
NM_147127.5(EVC2):c.1924T>C (p.Leu642=) rs2108843348
NM_147127.5(EVC2):c.1932G>A (p.Arg644=) rs1577175315
NM_147127.5(EVC2):c.1935T>C (p.Ala645=) rs2108843316
NM_147127.5(EVC2):c.1935T>G (p.Ala645=)
NM_147127.5(EVC2):c.1941A>G (p.Thr647=) rs2108843302
NM_147127.5(EVC2):c.1950T>C (p.Phe650=)
NM_147127.5(EVC2):c.1959G>A (p.Lys653=) rs2108843274
NM_147127.5(EVC2):c.195G>T (p.Gly65=)
NM_147127.5(EVC2):c.1966T>C (p.Leu656=)
NM_147127.5(EVC2):c.198G>T (p.Arg66=)
NM_147127.5(EVC2):c.2001C>G (p.Leu667=) rs756855227
NM_147127.5(EVC2):c.2007A>G (p.Gln669=)
NM_147127.5(EVC2):c.2011T>C (p.Leu671=)
NM_147127.5(EVC2):c.2019T>C (p.Thr673=) rs2108843154
NM_147127.5(EVC2):c.2028A>G (p.Arg676=)
NM_147127.5(EVC2):c.2031A>G (p.Arg677=) rs1577175103
NM_147127.5(EVC2):c.2037G>A (p.Leu679=)
NM_147127.5(EVC2):c.2038C>T (p.Leu680=)
NM_147127.5(EVC2):c.2046+10G>A
NM_147127.5(EVC2):c.2046+13T>C
NM_147127.5(EVC2):c.2046+14del
NM_147127.5(EVC2):c.2046+7A>G rs769477288
NM_147127.5(EVC2):c.2047-10G>A rs2108839481
NM_147127.5(EVC2):c.2047-17C>G
NM_147127.5(EVC2):c.2047-4C>G rs2108839468
NM_147127.5(EVC2):c.2047-4C>T
NM_147127.5(EVC2):c.2047-9A>C rs73198154
NM_147127.5(EVC2):c.2058G>A (p.Gln686=)
NM_147127.5(EVC2):c.2067G>A (p.Glu689=) rs201506848
NM_147127.5(EVC2):c.2076C>G (p.Ser692=)
NM_147127.5(EVC2):c.2079C>A (p.Val693=) rs201171209
NM_147127.5(EVC2):c.2082C>G (p.Gly694=)
NM_147127.5(EVC2):c.2085G>A (p.Glu695=)
NM_147127.5(EVC2):c.2088C>T (p.Ala696=)
NM_147127.5(EVC2):c.2097G>A (p.Thr699=)
NM_147127.5(EVC2):c.2121G>A (p.Leu707=)
NM_147127.5(EVC2):c.2137C>T (p.Leu713=) rs143662104
NM_147127.5(EVC2):c.2139G>C (p.Leu713=) rs1420713271
NM_147127.5(EVC2):c.213C>A (p.Pro71=) rs956555128
NM_147127.5(EVC2):c.213C>G (p.Pro71=)
NM_147127.5(EVC2):c.2145G>A (p.Glu715=)
NM_147127.5(EVC2):c.2148G>A (p.Glu716=)
NM_147127.5(EVC2):c.2181T>A (p.Arg727=) rs2108839127
NM_147127.5(EVC2):c.2187C>T (p.Asp729=)
NM_147127.5(EVC2):c.2197C>T (p.Leu733=)
NM_147127.5(EVC2):c.2199G>A (p.Leu733=)
NM_147127.5(EVC2):c.21G>C (p.Arg7=)
NM_147127.5(EVC2):c.2208C>A (p.Leu736=) rs762567213
NM_147127.5(EVC2):c.2208C>G (p.Leu736=)
NM_147127.5(EVC2):c.2217G>T (p.Leu739=) rs2108839042
NM_147127.5(EVC2):c.2220C>A (p.Thr740=) rs1322356357
NM_147127.5(EVC2):c.2226G>T (p.Ser742=)
NM_147127.5(EVC2):c.2241C>T (p.Ala747=) rs2108838978
NM_147127.5(EVC2):c.2256G>T (p.Arg752=) rs745815880
NM_147127.5(EVC2):c.225G>A (p.Thr75=) rs879806038
NM_147127.5(EVC2):c.225G>C (p.Thr75=)
NM_147127.5(EVC2):c.225G>T (p.Thr75=) rs879806038
NM_147127.5(EVC2):c.2260C>T (p.Leu754=) rs994924513
NM_147127.5(EVC2):c.2262G>C (p.Leu754=) rs1715799265
NM_147127.5(EVC2):c.228+11C>T
NM_147127.5(EVC2):c.228+13C>G
NM_147127.5(EVC2):c.228+13C>T
NM_147127.5(EVC2):c.228+14G>A
NM_147127.5(EVC2):c.228+16C>T
NM_147127.5(EVC2):c.228+17C>A
NM_147127.5(EVC2):c.228+18C>G
NM_147127.5(EVC2):c.228+20A>C
NM_147127.5(EVC2):c.228+8G>A rs965425013
NM_147127.5(EVC2):c.228+9G>T
NM_147127.5(EVC2):c.229-14C>G
NM_147127.5(EVC2):c.229-18G>C
NM_147127.5(EVC2):c.2292C>T (p.Leu764=)
NM_147127.5(EVC2):c.2301G>A (p.Gly767=) rs374178504
NM_147127.5(EVC2):c.2301G>C (p.Gly767=) rs374178504
NM_147127.5(EVC2):c.2304G>A (p.Val768=)
NM_147127.5(EVC2):c.2316C>T (p.Phe772=)
NM_147127.5(EVC2):c.2319G>A (p.Leu773=) rs775800077
NM_147127.5(EVC2):c.231C>T (p.Asp77=)
NM_147127.5(EVC2):c.2322G>A (p.Gln774=)
NM_147127.5(EVC2):c.2328C>T (p.Ile776=) rs2108838807
NM_147127.5(EVC2):c.2329C>T (p.Leu777=)
NM_147127.5(EVC2):c.232T>C (p.Leu78=)
NM_147127.5(EVC2):c.2346G>A (p.Lys782=) rs2108838756
NM_147127.5(EVC2):c.234G>A (p.Leu78=)
NM_147127.5(EVC2):c.2355T>C (p.Ala785=)
NM_147127.5(EVC2):c.2358A>G (p.Ala786=) rs903048338
NM_147127.5(EVC2):c.2359C>A (p.Arg787=) rs776830520
NM_147127.5(EVC2):c.2361G>A (p.Arg787=)
NM_147127.5(EVC2):c.2361G>T (p.Arg787=) rs1041638769
NM_147127.5(EVC2):c.2373G>A (p.Leu791=)
NM_147127.5(EVC2):c.2373G>T (p.Leu791=) rs762295916
NM_147127.5(EVC2):c.237C>G (p.Pro79=) rs1721565602
NM_147127.5(EVC2):c.2382G>A (p.Glu794=)
NM_147127.5(EVC2):c.2385G>A (p.Glu795=)
NM_147127.5(EVC2):c.2392A>C (p.Arg798=)
NM_147127.5(EVC2):c.2406T>C (p.Gly802=)
NM_147127.5(EVC2):c.2412G>A (p.Gln804=) rs1715777770
NM_147127.5(EVC2):c.2415C>T (p.Ser805=)
NM_147127.5(EVC2):c.2427A>G (p.Arg809=)
NM_147127.5(EVC2):c.2433G>A (p.Lys811=) rs2108838539
NM_147127.5(EVC2):c.2448G>A (p.Glu816=)
NM_147127.5(EVC2):c.2451C>A (p.Ala817=)
NM_147127.5(EVC2):c.2451C>G (p.Ala817=) rs377709998
NM_147127.5(EVC2):c.2454G>A (p.Val818=)
NM_147127.5(EVC2):c.2469A>C (p.Ala823=)
NM_147127.5(EVC2):c.2472G>A (p.Glu824=)
NM_147127.5(EVC2):c.2473C>T (p.Leu825=) rs774185697
NM_147127.5(EVC2):c.2481C>T (p.Arg827=) rs1577169762
NM_147127.5(EVC2):c.2490C>T (p.His830=) rs944565097
NM_147127.5(EVC2):c.2493G>A (p.Leu831=) rs369796222
NM_147127.5(EVC2):c.2493G>T (p.Leu831=)
NM_147127.5(EVC2):c.24G>A (p.Gly8=) rs989328461
NM_147127.5(EVC2):c.24G>T (p.Gly8=) rs989328461
NM_147127.5(EVC2):c.2501+14C>T
NM_147127.5(EVC2):c.2501+15G>A
NM_147127.5(EVC2):c.2501+17G>T rs755613338
NM_147127.5(EVC2):c.2501+19C>T
NM_147127.5(EVC2):c.2501+20G>C
NM_147127.5(EVC2):c.2501+7G>A
NM_147127.5(EVC2):c.2502-11C>G
NM_147127.5(EVC2):c.2502-12T>G
NM_147127.5(EVC2):c.2502-18C>G
NM_147127.5(EVC2):c.2502-20G>A
NM_147127.5(EVC2):c.2502-20G>C
NM_147127.5(EVC2):c.2502-7C>T
NM_147127.5(EVC2):c.2505G>A (p.Lys835=) rs527993206
NM_147127.5(EVC2):c.2508C>G (p.Leu836=)
NM_147127.5(EVC2):c.2508C>T (p.Leu836=)
NM_147127.5(EVC2):c.2514C>A (p.Ser838=) rs1715456441
NM_147127.5(EVC2):c.2526C>T (p.Ser842=)
NM_147127.5(EVC2):c.2529G>C (p.Leu843=)
NM_147127.5(EVC2):c.2535A>G (p.Glu845=)
NM_147127.5(EVC2):c.2541G>A (p.Glu847=)
NM_147127.5(EVC2):c.2542C>T (p.Leu848=)
NM_147127.5(EVC2):c.2544G>A (p.Leu848=) rs761816687
NM_147127.5(EVC2):c.2544G>C (p.Leu848=) rs761816687
NM_147127.5(EVC2):c.2568T>C (p.His856=)
NM_147127.5(EVC2):c.2583G>A (p.Gln861=)
NM_147127.5(EVC2):c.258G>A (p.Val86=)
NM_147127.5(EVC2):c.2604C>G (p.Leu868=)
NM_147127.5(EVC2):c.2610G>A (p.Lys870=)
NM_147127.5(EVC2):c.2614C>A (p.Arg872=)
NM_147127.5(EVC2):c.2616G>C (p.Arg872=) rs1715442469
NM_147127.5(EVC2):c.2619C>G (p.Ala873=)
NM_147127.5(EVC2):c.2619C>T (p.Ala873=)
NM_147127.5(EVC2):c.261A>G (p.Glu87=) rs1721564411
NM_147127.5(EVC2):c.2620C>A (p.Arg874=) rs760382778
NM_147127.5(EVC2):c.2631G>T (p.Leu877=) rs2108833246
NM_147127.5(EVC2):c.2649G>T (p.Ala883=) rs751714104
NM_147127.5(EVC2):c.264C>T (p.Cys88=)
NM_147127.5(EVC2):c.2658A>G (p.Glu886=) rs2108833172
NM_147127.5(EVC2):c.2661A>C (p.Ala887=)
NM_147127.5(EVC2):c.2661A>G (p.Ala887=)
NM_147127.5(EVC2):c.2676G>A (p.Leu892=) rs2108833128
NM_147127.5(EVC2):c.2676G>T (p.Leu892=)
NM_147127.5(EVC2):c.2679C>T (p.Asp893=)
NM_147127.5(EVC2):c.2682G>A (p.Gln894=) rs772672973
NM_147127.5(EVC2):c.2694C>G (p.Ala898=)
NM_147127.5(EVC2):c.2703G>A (p.Leu901=) rs902054124
NM_147127.5(EVC2):c.2706+10A>G
NM_147127.5(EVC2):c.2706+11C>G
NM_147127.5(EVC2):c.2706+13T>A
NM_147127.5(EVC2):c.2706+16C>G
NM_147127.5(EVC2):c.2707-11C>T
NM_147127.5(EVC2):c.2707-15C>G rs2108829132
NM_147127.5(EVC2):c.2707-15C>T
NM_147127.5(EVC2):c.2707-4C>G rs1368840473
NM_147127.5(EVC2):c.2707-6C>T rs2108829097
NM_147127.5(EVC2):c.2707-7_2707-6insA
NM_147127.5(EVC2):c.2712G>A (p.Gln904=) rs2108829070
NM_147127.5(EVC2):c.2727G>A (p.Lys909=)
NM_147127.5(EVC2):c.2730A>G (p.Ser910=)
NM_147127.5(EVC2):c.2736C>G (p.Ser912=)
NM_147127.5(EVC2):c.273T>C (p.Phe91=) rs2151739532
NM_147127.5(EVC2):c.2742T>C (p.Ser914=)
NM_147127.5(EVC2):c.2757G>A (p.Glu919=) rs2108828983
NM_147127.5(EVC2):c.2761C>T (p.Leu921=)
NM_147127.5(EVC2):c.2775C>A (p.Ile925=) rs772481704
NM_147127.5(EVC2):c.2775C>T (p.Ile925=) rs772481704
NM_147127.5(EVC2):c.2781C>T (p.Asp927=) rs1193965705
NM_147127.5(EVC2):c.2796T>C (p.Cys932=)
NM_147127.5(EVC2):c.279T>G (p.Thr93=)
NM_147127.5(EVC2):c.27C>G (p.Arg9=) rs2151750187
NM_147127.5(EVC2):c.27C>T (p.Arg9=)
NM_147127.5(EVC2):c.2811T>C (p.Ser937=)
NM_147127.5(EVC2):c.2820G>C (p.Leu940=) rs145709352
NM_147127.5(EVC2):c.2823G>A (p.Val941=)
NM_147127.5(EVC2):c.2829+11C>G
NM_147127.5(EVC2):c.2829+12T>G
NM_147127.5(EVC2):c.283+15T>C
NM_147127.5(EVC2):c.283+15del
NM_147127.5(EVC2):c.283+17G>A
NM_147127.5(EVC2):c.2830-10C>T
NM_147127.5(EVC2):c.2830-15C>A
NM_147127.5(EVC2):c.2830-18A>C
NM_147127.5(EVC2):c.2830-19C>T
NM_147127.5(EVC2):c.2830-5C>G rs1712137643
NM_147127.5(EVC2):c.2830-5C>T
NM_147127.5(EVC2):c.2830-7C>T
NM_147127.5(EVC2):c.2830-8C>T rs548370448
NM_147127.5(EVC2):c.2830-9C>T rs1414864322
NM_147127.5(EVC2):c.2832T>G (p.Val944=)
NM_147127.5(EVC2):c.2838T>C (p.Gly946=) rs764538071
NM_147127.5(EVC2):c.284-10T>G rs1192584069
NM_147127.5(EVC2):c.284-11T>C
NM_147127.5(EVC2):c.284-14T>C
NM_147127.5(EVC2):c.284-14T>G
NM_147127.5(EVC2):c.284-15GTT[2]
NM_147127.5(EVC2):c.284-16T>C
NM_147127.5(EVC2):c.284-19G>A
NM_147127.5(EVC2):c.284-20G>T
NM_147127.5(EVC2):c.284-5T>C rs994568319
NM_147127.5(EVC2):c.2842T>C (p.Leu948=) rs2108788809
NM_147127.5(EVC2):c.2847G>C (p.Leu949=) rs763331726
NM_147127.5(EVC2):c.2848C>A (p.Arg950=)
NM_147127.5(EVC2):c.2871G>A (p.Glu957=)
NM_147127.5(EVC2):c.2877G>A (p.Gln959=)
NM_147127.5(EVC2):c.2880G>A (p.Glu960=) rs903682822
NM_147127.5(EVC2):c.2886C>T (p.Gly962=)
NM_147127.5(EVC2):c.2898G>T (p.Ser966=) rs150055324
NM_147127.5(EVC2):c.2901T>C (p.Leu967=)
NM_147127.5(EVC2):c.2910G>A (p.Leu970=)
NM_147127.5(EVC2):c.2919G>A (p.Gln973=) rs759657816
NM_147127.5(EVC2):c.291A>C (p.Ala97=) rs752850734
NM_147127.5(EVC2):c.2928C>A (p.Ser976=) rs2108788636
NM_147127.5(EVC2):c.2928C>T (p.Ser976=)
NM_147127.5(EVC2):c.2937C>A (p.Thr979=) rs750126669
NM_147127.5(EVC2):c.2940G>A (p.Glu980=) rs2108788600
NM_147127.5(EVC2):c.2943T>C (p.Thr981=) rs2108788584
NM_147127.5(EVC2):c.2944C>T (p.Leu982=) rs927421145
NM_147127.5(EVC2):c.2946G>A (p.Leu982=) rs2108788572
NM_147127.5(EVC2):c.2946G>C (p.Leu982=)
NM_147127.5(EVC2):c.294A>C (p.Pro98=)
NM_147127.5(EVC2):c.2955C>T (p.Tyr985=) rs2108788542
NM_147127.5(EVC2):c.2961C>A (p.Ala987=)
NM_147127.5(EVC2):c.2967C>T (p.Leu989=) rs2108788495
NM_147127.5(EVC2):c.2979C>T (p.Asp993=)
NM_147127.5(EVC2):c.2980T>C (p.Leu994=) rs2108788479
NM_147127.5(EVC2):c.2986C>T (p.Leu996=)
NM_147127.5(EVC2):c.2988G>A (p.Leu996=)
NM_147127.5(EVC2):c.2988G>T (p.Leu996=)
NM_147127.5(EVC2):c.3003A>G (p.Ala1001=) rs1577118232
NM_147127.5(EVC2):c.3015G>A (p.Leu1005=) rs1577118206
NM_147127.5(EVC2):c.3027C>T (p.Ala1009=)
NM_147127.5(EVC2):c.3039_3040delinsTG (p.Leu1014Val) rs2108788322
NM_147127.5(EVC2):c.3048G>T (p.Ser1016=) rs182310332
NM_147127.5(EVC2):c.3051C>T (p.His1017=) rs2108788303
NM_147127.5(EVC2):c.3055C>A (p.Arg1019=)
NM_147127.5(EVC2):c.3057+10G>T rs2108788255
NM_147127.5(EVC2):c.3057+11G>A
NM_147127.5(EVC2):c.3057+11G>T
NM_147127.5(EVC2):c.3057+12C>T
NM_147127.5(EVC2):c.3057+14C>T
NM_147127.5(EVC2):c.3057+14_3057+16del
NM_147127.5(EVC2):c.3057+15T>C
NM_147127.5(EVC2):c.3057+9A>C rs774288170
NM_147127.5(EVC2):c.3057+9A>T
NM_147127.5(EVC2):c.3058-17G>A
NM_147127.5(EVC2):c.3058-20T>C
NM_147127.5(EVC2):c.3058-4G>T rs1490949079
NM_147127.5(EVC2):c.3058-7T>C
NM_147127.5(EVC2):c.3058-9C>T rs1722942659
NM_147127.5(EVC2):c.3069G>A (p.Glu1023=) rs2108778947
NM_147127.5(EVC2):c.306A>G (p.Lys102=) rs2151736755
NM_147127.5(EVC2):c.3075G>A (p.Glu1025=) rs1208477150
NM_147127.5(EVC2):c.3093G>A (p.Gln1031=) rs1429408396
NM_147127.5(EVC2):c.3096G>C (p.Leu1032=) rs2108778905
NM_147127.5(EVC2):c.3099G>A (p.Val1033=) rs2108778897
NM_147127.5(EVC2):c.309G>A (p.Leu103=)
NM_147127.5(EVC2):c.30C>A (p.Pro10=) rs1193570001
NM_147127.5(EVC2):c.3102G>A (p.Gln1034=)
NM_147127.5(EVC2):c.3135G>A (p.Ala1045=)
NM_147127.5(EVC2):c.3135G>C (p.Ala1045=) rs767047805
NM_147127.5(EVC2):c.3138C>T (p.Ser1046=)
NM_147127.5(EVC2):c.3144G>A (p.Gln1048=)
NM_147127.5(EVC2):c.3156C>G (p.Ala1052=) rs770163191
NM_147127.5(EVC2):c.3168G>A (p.Gly1056=) rs778954685
NM_147127.5(EVC2):c.3171T>A (p.Ile1057=)
NM_147127.5(EVC2):c.3172C>T (p.Leu1058=)
NM_147127.5(EVC2):c.3177C>T (p.Asn1059=)
NM_147127.5(EVC2):c.3207G>A (p.Gln1069=) rs2108778699
NM_147127.5(EVC2):c.3210C>G (p.Val1070=) rs1722925677
NM_147127.5(EVC2):c.3220C>T (p.Leu1074=) rs2108778665
NM_147127.5(EVC2):c.3225C>T (p.His1075=) rs2108778650
NM_147127.5(EVC2):c.3234G>A (p.Leu1078=)
NM_147127.5(EVC2):c.3240G>A (p.Lys1080=) rs779116122
NM_147127.5(EVC2):c.3258G>A (p.Glu1086=) rs1235779972
NM_147127.5(EVC2):c.3267G>A (p.Gln1089=)
NM_147127.5(EVC2):c.3272+15C>G
NM_147127.5(EVC2):c.3272+20G>A
NM_147127.5(EVC2):c.3272+20G>T
NM_147127.5(EVC2):c.3272+8G>T
NM_147127.5(EVC2):c.3273-19T>C
NM_147127.5(EVC2):c.3273-6C>T
NM_147127.5(EVC2):c.3273-7A>C
NM_147127.5(EVC2):c.3273-7A>G rs1382818953
NM_147127.5(EVC2):c.3273-7dup rs2108777051
NM_147127.5(EVC2):c.3273-8C>A
NM_147127.5(EVC2):c.3285A>G (p.Glu1095=) rs1462214483
NM_147127.5(EVC2):c.3300C>T (p.Val1100=) rs1577106532
NM_147127.5(EVC2):c.3303G>T (p.Val1101=)
NM_147127.5(EVC2):c.3315G>A (p.Leu1105=) rs1006097259
NM_147127.5(EVC2):c.3316T>C (p.Leu1106=)
NM_147127.5(EVC2):c.3330G>A (p.Glu1110=)
NM_147127.5(EVC2):c.3351G>C (p.Leu1117=) rs1722813978
NM_147127.5(EVC2):c.3360+16del
NM_147127.5(EVC2):c.3361-10T>C rs2108771027
NM_147127.5(EVC2):c.3361-11G>A rs369005788
NM_147127.5(EVC2):c.3361-14G>A
NM_147127.5(EVC2):c.3361-18C>T
NM_147127.5(EVC2):c.3361-20C>T
NM_147127.5(EVC2):c.3361-7C>T rs772860972
NM_147127.5(EVC2):c.3361-8T>A rs1358459718
NM_147127.5(EVC2):c.3367A>C (p.Arg1123=)
NM_147127.5(EVC2):c.336A>G (p.Pro112=)
NM_147127.5(EVC2):c.3370C>T (p.Leu1124=) rs1722461930
NM_147127.5(EVC2):c.3381C>T (p.Tyr1127=) rs2108770980
NM_147127.5(EVC2):c.3387G>A (p.Ala1129=) rs752793772
NM_147127.5(EVC2):c.339C>G (p.Leu113=)
NM_147127.5(EVC2):c.3414G>T (p.Thr1138=)
NM_147127.5(EVC2):c.3420C>T (p.Arg1140=)
NM_147127.5(EVC2):c.3423G>A (p.Arg1141=) rs1577099807
NM_147127.5(EVC2):c.3426C>G (p.Leu1142=)
NM_147127.5(EVC2):c.3429G>A (p.Leu1143=)
NM_147127.5(EVC2):c.3429G>C (p.Leu1143=) rs2108770885
NM_147127.5(EVC2):c.3435G>A (p.Val1145=)
NM_147127.5(EVC2):c.3441G>T (p.Leu1147=)
NM_147127.5(EVC2):c.3450C>T (p.Ala1150=)
NM_147127.5(EVC2):c.3456G>A (p.Gln1152=) rs1722452266
NM_147127.5(EVC2):c.3466C>T (p.Leu1156=) rs2108770821
NM_147127.5(EVC2):c.3471C>A (p.Ala1157=)
NM_147127.5(EVC2):c.3471C>G (p.Ala1157=) rs1722451421
NM_147127.5(EVC2):c.3472C>T (p.Leu1158=)
NM_147127.5(EVC2):c.3474G>A (p.Leu1158=)
NM_147127.5(EVC2):c.3474G>C (p.Leu1158=) rs760612657
NM_147127.5(EVC2):c.3475C>T (p.Leu1159=)
NM_147127.5(EVC2):c.3489C>G (p.Thr1163=) rs370368827
NM_147127.5(EVC2):c.3498T>C (p.His1166=)
NM_147127.5(EVC2):c.3501G>T (p.Val1167=)
NM_147127.5(EVC2):c.3504C>T (p.Asp1168=)
NM_147127.5(EVC2):c.3510A>G (p.Ala1170=)
NM_147127.5(EVC2):c.3525C>T (p.Gly1175=) rs767393828
NM_147127.5(EVC2):c.3531G>C (p.Ala1177=)
NM_147127.5(EVC2):c.3540C>G (p.Ala1180=) rs373829825
NM_147127.5(EVC2):c.3546G>A (p.Val1182=)
NM_147127.5(EVC2):c.3546G>C (p.Val1182=) rs2108770634
NM_147127.5(EVC2):c.354C>A (p.Ala118=)
NM_147127.5(EVC2):c.354C>G (p.Ala118=) rs915274674
NM_147127.5(EVC2):c.3552G>A (p.Arg1184=) rs1376155432
NM_147127.5(EVC2):c.3553C>A (p.Arg1185=) rs545528367
NM_147127.5(EVC2):c.3557+10G>T
NM_147127.5(EVC2):c.3557+13G>C
NM_147127.5(EVC2):c.3557+15G>A
NM_147127.5(EVC2):c.3557+15G>C
NM_147127.5(EVC2):c.3557+18G>A
NM_147127.5(EVC2):c.3557+18G>T
NM_147127.5(EVC2):c.3557+20T>C
NM_147127.5(EVC2):c.3557+9C>G
NM_147127.5(EVC2):c.3558-12T>C
NM_147127.5(EVC2):c.3558-19A>G
NM_147127.5(EVC2):c.3558-19A>T
NM_147127.5(EVC2):c.3558-4G>A rs746098929
NM_147127.5(EVC2):c.3558-4G>T
NM_147127.5(EVC2):c.3558-6C>G
NM_147127.5(EVC2):c.3558-7C>T rs2108767379
NM_147127.5(EVC2):c.3558-9del rs2108767385
NM_147127.5(EVC2):c.3564C>T (p.His1188=)
NM_147127.5(EVC2):c.3570C>T (p.Ser1190=)
NM_147127.5(EVC2):c.3588T>C (p.Asp1196=) rs1485389885
NM_147127.5(EVC2):c.3609G>A (p.Leu1203=) rs754595798
NM_147127.5(EVC2):c.3621A>G (p.Gly1207=)
NM_147127.5(EVC2):c.3634C>T (p.Leu1212=) rs1392499941
NM_147127.5(EVC2):c.3642C>G (p.Ala1214=)
NM_147127.5(EVC2):c.3642C>T (p.Ala1214=)
NM_147127.5(EVC2):c.3659+10G>T
NM_147127.5(EVC2):c.3659+12C>T
NM_147127.5(EVC2):c.3659+13A>G
NM_147127.5(EVC2):c.3659+14C>G
NM_147127.5(EVC2):c.3659+17_3659+18insGGGGA
NM_147127.5(EVC2):c.3659+20C>T
NM_147127.5(EVC2):c.3660-12C>A
NM_147127.5(EVC2):c.3660-12C>T
NM_147127.5(EVC2):c.3660-15T>C
NM_147127.5(EVC2):c.3660-18C>G
NM_147127.5(EVC2):c.3660-18C>T
NM_147127.5(EVC2):c.3660-20A>G
NM_147127.5(EVC2):c.3660-5T>C rs2108765328
NM_147127.5(EVC2):c.3660-6C>T rs1722062295
NM_147127.5(EVC2):c.3672G>A (p.Lys1224=) rs1722060400
NM_147127.5(EVC2):c.3687C>G (p.Leu1229=) rs1157926409
NM_147127.5(EVC2):c.3696G>A (p.Arg1232=) rs150551872
NM_147127.5(EVC2):c.3702A>C (p.Ile1234=) rs375566943
NM_147127.5(EVC2):c.3711A>G (p.Gly1237=) rs2108765239
NM_147127.5(EVC2):c.3726A>G (p.Pro1242=)
NM_147127.5(EVC2):c.3729C>T (p.His1243=)
NM_147127.5(EVC2):c.3730C>T (p.Leu1244=)
NM_147127.5(EVC2):c.3732G>T (p.Leu1244=) rs774269538
NM_147127.5(EVC2):c.3741G>A (p.Glu1247=)
NM_147127.5(EVC2):c.3750C>A (p.Gly1250=)
NM_147127.5(EVC2):c.3750C>G (p.Gly1250=)
NM_147127.5(EVC2):c.3762T>G (p.Pro1254=) rs1260164978
NM_147127.5(EVC2):c.3774A>C (p.Val1258=)
NM_147127.5(EVC2):c.3774A>T (p.Val1258=) rs2108765124
NM_147127.5(EVC2):c.3795A>G (p.Leu1265=)
NM_147127.5(EVC2):c.3796T>C (p.Leu1266=)
NM_147127.5(EVC2):c.379T>C (p.Leu127=)
NM_147127.5(EVC2):c.3810G>A (p.Glu1270=)
NM_147127.5(EVC2):c.3813G>A (p.Lys1271=)
NM_147127.5(EVC2):c.3816C>G (p.Leu1272=)
NM_147127.5(EVC2):c.3819T>C (p.Phe1273=)
NM_147127.5(EVC2):c.3822A>C (p.Ile1274=) rs2108765040
NM_147127.5(EVC2):c.3822A>T (p.Ile1274=) rs2108765040
NM_147127.5(EVC2):c.3843A>G (p.Pro1281=)
NM_147127.5(EVC2):c.3849C>A (p.Ile1283=)
NM_147127.5(EVC2):c.3853C>T (p.Leu1285=) rs2108764998
NM_147127.5(EVC2):c.3855G>A (p.Leu1285=) rs1722042643
NM_147127.5(EVC2):c.3868A>C (p.Arg1290=)
NM_147127.5(EVC2):c.3870G>A (p.Arg1290=)
NM_147127.5(EVC2):c.3909G>A (p.Arg1303=) rs2108764900
NM_147127.5(EVC2):c.3912C>T (p.Ala1304=)
NM_147127.5(EVC2):c.396C>T (p.Pro132=)
NM_147127.5(EVC2):c.399C>T (p.Ser133=) rs2151736611
NM_147127.5(EVC2):c.417A>G (p.Leu139=) rs2151736587
NM_147127.5(EVC2):c.423A>G (p.Lys141=)
NM_147127.5(EVC2):c.426A>G (p.Arg142=)
NM_147127.5(EVC2):c.447C>A (p.Arg149=)
NM_147127.5(EVC2):c.447C>T (p.Arg149=)
NM_147127.5(EVC2):c.450+10_450+14del rs2151736515
NM_147127.5(EVC2):c.450+12G>A
NM_147127.5(EVC2):c.450+15C>A
NM_147127.5(EVC2):c.450+15C>G
NM_147127.5(EVC2):c.450+15C>T
NM_147127.5(EVC2):c.450+16A>G
NM_147127.5(EVC2):c.450+17A>T rs370958428
NM_147127.5(EVC2):c.450+18T>C
NM_147127.5(EVC2):c.450+8T>C
NM_147127.5(EVC2):c.450+9T>C rs2151736518
NM_147127.5(EVC2):c.451-12A>G
NM_147127.5(EVC2):c.451-13C>T
NM_147127.5(EVC2):c.451-16T>C
NM_147127.5(EVC2):c.451-17T>C
NM_147127.5(EVC2):c.451-18T>G
NM_147127.5(EVC2):c.451-7A>T
NM_147127.5(EVC2):c.451-7dup
NM_147127.5(EVC2):c.451-8T>C rs1721108385
NM_147127.5(EVC2):c.451-9T>C
NM_147127.5(EVC2):c.45C>G (p.Ala15=) rs1285560156
NM_147127.5(EVC2):c.465A>C (p.Ser155=) rs1001393610
NM_147127.5(EVC2):c.466A>C (p.Arg156=)
NM_147127.5(EVC2):c.486T>G (p.Ser162=)
NM_147127.5(EVC2):c.489A>G (p.Glu163=) rs2151733929
NM_147127.5(EVC2):c.492T>C (p.Asn164=)
NM_147127.5(EVC2):c.495A>C (p.Gly165=)
NM_147127.5(EVC2):c.498A>T (p.Val166=)
NM_147127.5(EVC2):c.516A>G (p.Ala172=)
NM_147127.5(EVC2):c.517C>T (p.Leu173=) rs2151733903
NM_147127.5(EVC2):c.519+11A>G
NM_147127.5(EVC2):c.519+20G>A
NM_147127.5(EVC2):c.519+7T>G
NM_147127.5(EVC2):c.520-10_520-8del
NM_147127.5(EVC2):c.520-13C>T
NM_147127.5(EVC2):c.520-14T>G
NM_147127.5(EVC2):c.520-18C>T rs2151731962
NM_147127.5(EVC2):c.520-19C>G
NM_147127.5(EVC2):c.520-19C>T
NM_147127.5(EVC2):c.520-4C>G
NM_147127.5(EVC2):c.520-4C>T rs764449545
NM_147127.5(EVC2):c.520-5C>T
NM_147127.5(EVC2):c.520-8T>C rs2151731945
NM_147127.5(EVC2):c.520-9C>G
NM_147127.5(EVC2):c.525T>C (p.Ser175=)
NM_147127.5(EVC2):c.531G>T (p.Ser177=) rs146658261
NM_147127.5(EVC2):c.543G>A (p.Gln181=)
NM_147127.5(EVC2):c.549C>T (p.Ala183=)
NM_147127.5(EVC2):c.54C>G (p.Leu18=)
NM_147127.5(EVC2):c.552C>T (p.Arg184=)
NM_147127.5(EVC2):c.573C>T (p.Asn191=)
NM_147127.5(EVC2):c.579G>A (p.Lys193=)
NM_147127.5(EVC2):c.57G>A (p.Leu19=)
NM_147127.5(EVC2):c.585C>T (p.Thr195=)
NM_147127.5(EVC2):c.588G>C (p.Ser196=)
NM_147127.5(EVC2):c.594C>A (p.Ala198=) rs1482138140
NM_147127.5(EVC2):c.597C>T (p.Asn199=) rs1003816966
NM_147127.5(EVC2):c.600C>T (p.Leu200=)
NM_147127.5(EVC2):c.603G>A (p.Ser201=)
NM_147127.5(EVC2):c.609G>A (p.Leu203=)
NM_147127.5(EVC2):c.60A>G (p.Ala20=)
NM_147127.5(EVC2):c.616C>T (p.Leu206=)
NM_147127.5(EVC2):c.618G>T (p.Leu206=)
NM_147127.5(EVC2):c.627T>A (p.Ile209=) rs1415784175
NM_147127.5(EVC2):c.627T>C (p.Ile209=)
NM_147127.5(EVC2):c.639C>G (p.Thr213=) rs1323570343
NM_147127.5(EVC2):c.648C>T (p.Asp216=) rs1720936758
NM_147127.5(EVC2):c.651T>A (p.Ser217=)
NM_147127.5(EVC2):c.651T>C (p.Ser217=)
NM_147127.5(EVC2):c.657A>G (p.Gly219=)
NM_147127.5(EVC2):c.660C>T (p.Asn220=)
NM_147127.5(EVC2):c.666C>T (p.Thr222=) rs372079686
NM_147127.5(EVC2):c.669G>T (p.Ser223=)
NM_147127.5(EVC2):c.684T>G (p.Ala228=) rs2151731613
NM_147127.5(EVC2):c.690C>T (p.Ser230=)
NM_147127.5(EVC2):c.696G>A (p.Lys232=)
NM_147127.5(EVC2):c.6C>T (p.Asp2=) rs939013967
NM_147127.5(EVC2):c.706+12G>A
NM_147127.5(EVC2):c.706+14G>A
NM_147127.5(EVC2):c.707-10C>G
NM_147127.5(EVC2):c.707-10C>T
NM_147127.5(EVC2):c.707-15C>G
NM_147127.5(EVC2):c.707-15C>T
NM_147127.5(EVC2):c.707-17T>G
NM_147127.5(EVC2):c.707-20A>G
NM_147127.5(EVC2):c.707-20A>T
NM_147127.5(EVC2):c.707-4G>T rs113806963
NM_147127.5(EVC2):c.707-6G>A rs2151728173
NM_147127.5(EVC2):c.707-7T>G
NM_147127.5(EVC2):c.714T>C (p.Asp238=) rs977594999
NM_147127.5(EVC2):c.717C>A (p.Ala239=) rs2151728147
NM_147127.5(EVC2):c.726C>T (p.Val242=)
NM_147127.5(EVC2):c.72G>C (p.Ala24=) rs2151750115
NM_147127.5(EVC2):c.733G>T (p.Ala245Ser) rs530937415
NM_147127.5(EVC2):c.735A>G (p.Ala245=) rs2151728120
NM_147127.5(EVC2):c.744C>T (p.Leu248=)
NM_147127.5(EVC2):c.771G>A (p.Glu257=)
NM_147127.5(EVC2):c.777C>T (p.Leu259=) rs754899418
NM_147127.5(EVC2):c.789C>A (p.Ala263=)
NM_147127.5(EVC2):c.789C>T (p.Ala263=) rs2151728052
NM_147127.5(EVC2):c.810G>A (p.Ser270=) rs761317948
NM_147127.5(EVC2):c.810G>T (p.Ser270=) rs761317948
NM_147127.5(EVC2):c.816+13T>C
NM_147127.5(EVC2):c.816+14T>A
NM_147127.5(EVC2):c.816+19T>C
NM_147127.5(EVC2):c.816+7C>A
NM_147127.5(EVC2):c.816+8C>G rs2151727996
NM_147127.5(EVC2):c.817-10C>A rs750153523
NM_147127.5(EVC2):c.817-12T>C
NM_147127.5(EVC2):c.817-15T>G
NM_147127.5(EVC2):c.817-17C>T
NM_147127.5(EVC2):c.817-19T>C
NM_147127.5(EVC2):c.817-19_817-18del
NM_147127.5(EVC2):c.817-5T>A
NM_147127.5(EVC2):c.817-5T>C rs2151724161
NM_147127.5(EVC2):c.817-6T>G
NM_147127.5(EVC2):c.81C>G (p.Gly27=)
NM_147127.5(EVC2):c.828G>A (p.Gln276=)
NM_147127.5(EVC2):c.829C>T (p.Leu277=) rs2151724132
NM_147127.5(EVC2):c.831G>A (p.Leu277=) rs376314429
NM_147127.5(EVC2):c.852A>C (p.Thr284=) rs1444259253
NM_147127.5(EVC2):c.852A>G (p.Thr284=) rs1444259253
NM_147127.5(EVC2):c.870+10A>G rs779971622
NM_147127.5(EVC2):c.870+14C>G
NM_147127.5(EVC2):c.870+15A>G
NM_147127.5(EVC2):c.870+20C>G
NM_147127.5(EVC2):c.870+7G>A
NM_147127.5(EVC2):c.871-10G>A
NM_147127.5(EVC2):c.871-10G>T rs1474138185
NM_147127.5(EVC2):c.871-19T>A
NM_147127.5(EVC2):c.871-4A>G
NM_147127.5(EVC2):c.871-6C>T
NM_147127.5(EVC2):c.871-9T>C
NM_147127.5(EVC2):c.879G>A (p.Pro293=)
NM_147127.5(EVC2):c.879G>T (p.Pro293=) rs150699446
NM_147127.5(EVC2):c.87C>T (p.Gly29=) rs2151750094
NM_147127.5(EVC2):c.891C>T (p.Leu297=)
NM_147127.5(EVC2):c.897A>C (p.Ala299=) rs763124334
NM_147127.5(EVC2):c.897A>G (p.Ala299=)
NM_147127.5(EVC2):c.903G>A (p.Gly301=) rs745889694
NM_147127.5(EVC2):c.903G>T (p.Gly301=) rs745889694
NM_147127.5(EVC2):c.90T>C (p.Cys30=) rs1722360264
NM_147127.5(EVC2):c.927C>G (p.Ser309=) rs2108900060
NM_147127.5(EVC2):c.930T>G (p.Leu310=)
NM_147127.5(EVC2):c.939C>G (p.Thr313=)
NM_147127.5(EVC2):c.939C>T (p.Thr313=) rs1322685892
NM_147127.5(EVC2):c.93C>G (p.Leu31=)
NM_147127.5(EVC2):c.951C>T (p.Leu317=)
NM_147127.5(EVC2):c.954C>T (p.Phe318=)
NM_147127.5(EVC2):c.957C>G (p.Leu319=)
NM_147127.5(EVC2):c.966C>T (p.Arg322=)
NM_147127.5(EVC2):c.96C>T (p.Gly32=) rs1722358000
NM_147127.5(EVC2):c.981G>A (p.Lys327=) rs2108899931
NM_147127.5(EVC2):c.984A>G (p.Gly328=)
NM_147127.5(EVC2):c.987C>T (p.Asn329=) rs2108899904
NM_147127.5(EVC2):c.993C>T (p.Leu331=)
NM_147127.5(EVC2):c.996C>T (p.Thr332=)
NM_153717.3(EVC):c.1005C>T (p.Ser335=) rs895165309
NM_153717.3(EVC):c.1008C>T (p.Ser336=)
NM_153717.3(EVC):c.1017C>T (p.Ala339=)
NM_153717.3(EVC):c.1018C>A (p.Arg340=) rs121908425
NM_153717.3(EVC):c.1020A>G (p.Arg340=)
NM_153717.3(EVC):c.1026G>A (p.Leu342=)
NM_153717.3(EVC):c.102G>C (p.Leu34=)
NM_153717.3(EVC):c.1035T>C (p.Thr345=) rs2152045460
NM_153717.3(EVC):c.1041G>A (p.Thr347=) rs148418233
NM_153717.3(EVC):c.1041G>T (p.Thr347=) rs148418233
NM_153717.3(EVC):c.1059C>A (p.Ala353=)
NM_153717.3(EVC):c.105C>T (p.Gly35=) rs745558003
NM_153717.3(EVC):c.1089G>A (p.Leu363=)
NM_153717.3(EVC):c.1089G>C (p.Leu363=)
NM_153717.3(EVC):c.1098+12G>C
NM_153717.3(EVC):c.1098+13G>A
NM_153717.3(EVC):c.1098+13G>C
NM_153717.3(EVC):c.1098+15G>C
NM_153717.3(EVC):c.1098+16G>A
NM_153717.3(EVC):c.1098+16G>T
NM_153717.3(EVC):c.1098+17C>T
NM_153717.3(EVC):c.1098+18G>A
NM_153717.3(EVC):c.1098+18G>T
NM_153717.3(EVC):c.1098+20G>C
NM_153717.3(EVC):c.1098+20G>T
NM_153717.3(EVC):c.1098+8T>C
NM_153717.3(EVC):c.1098+8T>G
NM_153717.3(EVC):c.1099-10C>A rs1465530933
NM_153717.3(EVC):c.1099-14G>A
NM_153717.3(EVC):c.1099-20C>T
NM_153717.3(EVC):c.1099-21_1099-19delinsGTC rs2152075906
NM_153717.3(EVC):c.1099-21_1099-20delinsGT
NM_153717.3(EVC):c.1099-4G>A rs2152076013
NM_153717.3(EVC):c.1099-5T>C rs2152076005
NM_153717.3(EVC):c.1107G>T (p.Leu369=)
NM_153717.3(EVC):c.1113G>A (p.Arg371=)
NM_153717.3(EVC):c.1116G>A (p.Thr372=) rs781636545
NM_153717.3(EVC):c.1143G>C (p.Val381=) rs2152076257
NM_153717.3(EVC):c.1143G>T (p.Val381=)
NM_153717.3(EVC):c.114C>T (p.Leu38=) rs1167442380
NM_153717.3(EVC):c.1159C>T (p.Leu387=) rs1577439719
NM_153717.3(EVC):c.1161G>T (p.Leu387=)
NM_153717.3(EVC):c.1176G>A (p.Glu392=) rs752626166
NM_153717.3(EVC):c.1179C>G (p.Thr393=)
NM_153717.3(EVC):c.117C>A (p.Gly39=)
NM_153717.3(EVC):c.1189C>T (p.Leu397=)
NM_153717.3(EVC):c.1197C>T (p.Ala399=) rs2152076403
NM_153717.3(EVC):c.1200C>A (p.Ile400=) rs750816331
NM_153717.3(EVC):c.1203C>A (p.Ser401=)
NM_153717.3(EVC):c.1203C>T (p.Ser401=) rs867155796
NM_153717.3(EVC):c.1207G>A (p.Gly403Ser)
NM_153717.3(EVC):c.120C>A (p.Leu40=) rs1407286365
NM_153717.3(EVC):c.120C>G (p.Leu40=)
NM_153717.3(EVC):c.120C>T (p.Leu40=)
NM_153717.3(EVC):c.1210C>T (p.Leu404=) rs2152076460
NM_153717.3(EVC):c.1215G>A (p.Glu405=)
NM_153717.3(EVC):c.1218G>C (p.Leu406=) rs2152076473
NM_153717.3(EVC):c.1218G>T (p.Leu406=) rs2152076473
NM_153717.3(EVC):c.1230G>A (p.Glu410=)
NM_153717.3(EVC):c.1239G>C (p.Leu413=)
NM_153717.3(EVC):c.123C>A (p.Gly41=)
NM_153717.3(EVC):c.1246C>A (p.Arg416=) rs113986714
NM_153717.3(EVC):c.1261C>T (p.Leu421=) rs775388162
NM_153717.3(EVC):c.1266C>G (p.Leu422=) rs2152076665
NM_153717.3(EVC):c.1266C>T (p.Leu422=) rs2152076665
NM_153717.3(EVC):c.126C>G (p.Leu42=)
NM_153717.3(EVC):c.126C>T (p.Leu42=)
NM_153717.3(EVC):c.1287C>T (p.Phe429=) rs2152076737
NM_153717.3(EVC):c.1304G>A (p.Arg435His)
NM_153717.3(EVC):c.1311C>T (p.Ser437=)
NM_153717.3(EVC):c.1312C>A (p.Arg438=)
NM_153717.3(EVC):c.1315+11G>C
NM_153717.3(EVC):c.1315+14A>G
NM_153717.3(EVC):c.1315+16_1315+27del
NM_153717.3(EVC):c.1315+8G>T
NM_153717.3(EVC):c.1316-14T>C
NM_153717.3(EVC):c.1316-20G>A
NM_153717.3(EVC):c.1316-20G>T
NM_153717.3(EVC):c.1316-4C>T
NM_153717.3(EVC):c.1327C>A (p.Arg443=)
NM_153717.3(EVC):c.1344C>T (p.Val448=) rs2152081344
NM_153717.3(EVC):c.1347G>A (p.Thr449=)
NM_153717.3(EVC):c.1383A>G (p.Lys461=)
NM_153717.3(EVC):c.1398A>G (p.Gln466=)
NM_153717.3(EVC):c.1404G>A (p.Glu468=)
NM_153717.3(EVC):c.1407A>G (p.Glu469=) rs755691949
NM_153717.3(EVC):c.1425T>C (p.Ala475=) rs2152081868
NM_153717.3(EVC):c.1428G>A (p.Glu476=)
NM_153717.3(EVC):c.1434G>A (p.Gln478=)
NM_153717.3(EVC):c.1437G>A (p.Pro479=) rs112861104
NM_153717.3(EVC):c.1437G>T (p.Pro479=) rs112861104
NM_153717.3(EVC):c.1440T>C (p.Thr480=)
NM_153717.3(EVC):c.1449G>A (p.Pro483=)
NM_153717.3(EVC):c.1452A>G (p.Glu484=)
NM_153717.3(EVC):c.1464+12C>A
NM_153717.3(EVC):c.1464+12C>G rs753296851
NM_153717.3(EVC):c.1464+19C>T
NM_153717.3(EVC):c.1464+7C>G
NM_153717.3(EVC):c.1464+8A>T rs116236414
NM_153717.3(EVC):c.1465-12T>G
NM_153717.3(EVC):c.1465-13G>A
NM_153717.3(EVC):c.1465-15_1465-14del
NM_153717.3(EVC):c.1465-15_1465-14dup
NM_153717.3(EVC):c.1465-18C>T
NM_153717.3(EVC):c.1465-4A>G
NM_153717.3(EVC):c.1465-5C>A
NM_153717.3(EVC):c.1465-7C>T
NM_153717.3(EVC):c.1465-8C>T
NM_153717.3(EVC):c.1465-9T>C
NM_153717.3(EVC):c.1473T>C (p.His491=)
NM_153717.3(EVC):c.1479C>T (p.Val493=)
NM_153717.3(EVC):c.147C>A (p.Arg49=) rs1723020172
NM_153717.3(EVC):c.1482G>C (p.Leu494=)
NM_153717.3(EVC):c.1494G>A (p.Arg498=)
NM_153717.3(EVC):c.1495C>G (p.Leu499Val)
NM_153717.3(EVC):c.14G>T (p.Gly5Val)
NM_153717.3(EVC):c.150G>C (p.Ala50=) rs1257185745
NM_153717.3(EVC):c.1512G>A (p.Leu504=)
NM_153717.3(EVC):c.1524G>A (p.Glu508=) rs2152094941
NM_153717.3(EVC):c.1528G>A (p.Val510Ile) rs143971158
NM_153717.3(EVC):c.1530C>G (p.Val510=)
NM_153717.3(EVC):c.1531A>C (p.Arg511=) rs2152094988
NM_153717.3(EVC):c.1563+10C>T rs2152095141
NM_153717.3(EVC):c.1563+13T>C
NM_153717.3(EVC):c.1563+14G>A
NM_153717.3(EVC):c.1563+14G>C
NM_153717.3(EVC):c.1563+15T>G
NM_153717.3(EVC):c.1563+16G>A
NM_153717.3(EVC):c.1563+19G>A
NM_153717.3(EVC):c.1563+7G>A
NM_153717.3(EVC):c.1564-10T>G
NM_153717.3(EVC):c.1564-11C>G
NM_153717.3(EVC):c.1564-11C>T
NM_153717.3(EVC):c.1564-15G>T
NM_153717.3(EVC):c.1564-19C>G
NM_153717.3(EVC):c.1564-7G>C
NM_153717.3(EVC):c.1564-7G>T
NM_153717.3(EVC):c.1564-9C>T rs1361893356
NM_153717.3(EVC):c.1569G>C (p.Leu523=)
NM_153717.3(EVC):c.1572C>T (p.Tyr524=) rs1735952327
NM_153717.3(EVC):c.1578C>T (p.Ser526=)
NM_153717.3(EVC):c.1593C>T (p.Phe531=) rs771775185
NM_153717.3(EVC):c.159G>A (p.Gln53=)
NM_153717.3(EVC):c.1605G>A (p.Val535=)
NM_153717.3(EVC):c.1611C>T (p.Ala537=) rs765193502
NM_153717.3(EVC):c.1612C>T (p.Leu538=)
NM_153717.3(EVC):c.1623G>A (p.Gln541=) rs2152288778
NM_153717.3(EVC):c.1626G>A (p.Thr542=)
NM_153717.3(EVC):c.1629C>G (p.Leu543=) rs1735963741
NM_153717.3(EVC):c.1635C>T (p.Gly545=) rs781699320
NM_153717.3(EVC):c.1641T>C (p.Thr547=) rs2152288859
NM_153717.3(EVC):c.1647C>A (p.Leu549=) rs756674302
NM_153717.3(EVC):c.1647C>G (p.Leu549=)
NM_153717.3(EVC):c.1650C>A (p.Pro550=) rs1187336928
NM_153717.3(EVC):c.1656A>G (p.Glu552=)
NM_153717.3(EVC):c.1659G>C (p.Glu553Asp)
NM_153717.3(EVC):c.1662T>C (p.Cys554=) rs2152288989
NM_153717.3(EVC):c.1665C>T (p.Asp555=)
NM_153717.3(EVC):c.1677G>A (p.Gln559=)
NM_153717.3(EVC):c.1683C>A (p.Val561=)
NM_153717.3(EVC):c.1683C>G (p.Val561=) rs913909906
NM_153717.3(EVC):c.1689G>A (p.Glu563=)
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr) rs144943762
NM_153717.3(EVC):c.1698C>G (p.Ala566=) rs911132556
NM_153717.3(EVC):c.1725C>T (p.Phe575=)
NM_153717.3(EVC):c.1737G>A (p.Gln579=) rs768788576
NM_153717.3(EVC):c.174+11C>G
NM_153717.3(EVC):c.174+12G>A
NM_153717.3(EVC):c.174+14G>A
NM_153717.3(EVC):c.174+16_174+30del
NM_153717.3(EVC):c.174+17G>T
NM_153717.3(EVC):c.174+7C>G
NM_153717.3(EVC):c.174+7C>T rs1577297959
NM_153717.3(EVC):c.174+8G>C
NM_153717.3(EVC):c.1743A>G (p.Lys581=)
NM_153717.3(EVC):c.1746C>A (p.Leu582=) rs1029833383
NM_153717.3(EVC):c.175-19C>G
NM_153717.3(EVC):c.175-19C>T
NM_153717.3(EVC):c.175-20T>C
NM_153717.3(EVC):c.175-9G>C rs753317536
NM_153717.3(EVC):c.1761A>C (p.Leu587=)
NM_153717.3(EVC):c.1776+7G>A rs750719632
NM_153717.3(EVC):c.1776+7del rs540001390
NM_153717.3(EVC):c.1776+8C>G rs761163369
NM_153717.3(EVC):c.1776+8C>T
NM_153717.3(EVC):c.1776+9A>G rs2152289531
NM_153717.3(EVC):c.1777-13G>C
NM_153717.3(EVC):c.1777-15C>G
NM_153717.3(EVC):c.1777-17C>G
NM_153717.3(EVC):c.1777-19C>T
NM_153717.3(EVC):c.1777-9C>G
NM_153717.3(EVC):c.1777-9C>T rs113468936
NM_153717.3(EVC):c.1779G>A (p.Val593=)
NM_153717.3(EVC):c.1788G>A (p.Glu596=) rs2152326451
NM_153717.3(EVC):c.1791G>A (p.Glu597=) rs1577599969
NM_153717.3(EVC):c.1800G>C (p.Leu600=) rs1713204688
NM_153717.3(EVC):c.1800G>T (p.Leu600=)
NM_153717.3(EVC):c.1803C>T (p.Ser601=) rs2152326514
NM_153717.3(EVC):c.1809G>A (p.Val603=)
NM_153717.3(EVC):c.1812G>A (p.Leu604=)
NM_153717.3(EVC):c.1821C>T (p.His607=) rs779056864
NM_153717.3(EVC):c.1825C>A (p.Arg609=)
NM_153717.3(EVC):c.1827G>A (p.Arg609=)
NM_153717.3(EVC):c.1830G>A (p.Glu610=)
NM_153717.3(EVC):c.1851C>A (p.Arg617=)
NM_153717.3(EVC):c.1851C>T (p.Arg617=) rs967986192
NM_153717.3(EVC):c.1854C>A (p.Gly618=) rs11737221
NM_153717.3(EVC):c.1857C>G (p.Val619=) rs2152326683
NM_153717.3(EVC):c.1857C>T (p.Val619=) rs2152326683
NM_153717.3(EVC):c.1886+11C>T
NM_153717.3(EVC):c.1886+13C>T
NM_153717.3(EVC):c.1886+16T>C
NM_153717.3(EVC):c.1886+17G>C
NM_153717.3(EVC):c.1886+7A>G rs2152326793
NM_153717.3(EVC):c.1887-19T>G
NM_153717.3(EVC):c.1887-4A>C rs2152340153
NM_153717.3(EVC):c.1887-5C>T
NM_153717.3(EVC):c.1890C>T (p.Ser630=) rs2152340181
NM_153717.3(EVC):c.1893G>A (p.Thr631=) rs1017858503
NM_153717.3(EVC):c.1893G>T (p.Thr631=) rs1017858503
NM_153717.3(EVC):c.1896G>C (p.Arg632=) rs758327867
NM_153717.3(EVC):c.1905G>T (p.Leu635=) rs777640312
NM_153717.3(EVC):c.1917C>T (p.Asp639=) rs1242667817
NM_153717.3(EVC):c.1923G>A (p.Leu641=)
NM_153717.3(EVC):c.1926G>A (p.Leu642=) rs1191617444
NM_153717.3(EVC):c.1935C>T (p.Ala645=) rs1412137397
NM_153717.3(EVC):c.1938C>T (p.Leu646=)
NM_153717.3(EVC):c.1939C>A (p.Arg647=)
NM_153717.3(EVC):c.1940G>A (p.Arg647Gln) rs35401386
NM_153717.3(EVC):c.1941G>A (p.Arg647=)
NM_153717.3(EVC):c.1944G>A (p.Arg648=) rs1577616662
NM_153717.3(EVC):c.195G>T (p.Leu65=)
NM_153717.3(EVC):c.1965C>A (p.Ala655=) rs757251724
NM_153717.3(EVC):c.1966C>T (p.Leu656=) rs2152340488
NM_153717.3(EVC):c.1968G>A (p.Leu656=)
NM_153717.3(EVC):c.1971C>T (p.Ala657=) rs2152340517
NM_153717.3(EVC):c.1983G>A (p.Gln661=)
NM_153717.3(EVC):c.198C>T (p.Leu66=)
NM_153717.3(EVC):c.1995G>T (p.Ser665=) rs142897994
NM_153717.3(EVC):c.1998G>A (p.Gly666=) rs772759204
NM_153717.3(EVC):c.2004G>A (p.Lys668=) rs759187395
NM_153717.3(EVC):c.2013G>A (p.Leu671=)
NM_153717.3(EVC):c.2019G>A (p.Glu673=)
NM_153717.3(EVC):c.2023C>A (p.Arg675=) rs372267517
NM_153717.3(EVC):c.2025G>T (p.Arg675=) rs1714120141
NM_153717.3(EVC):c.2043G>A (p.Glu681=)
NM_153717.3(EVC):c.2055C>T (p.Ser685=)
NM_153717.3(EVC):c.205T>C (p.Leu69=)
NM_153717.3(EVC):c.2067C>T (p.Asp689=) rs768403488
NM_153717.3(EVC):c.2076G>A (p.Gln692=) rs1714131544
NM_153717.3(EVC):c.207G>A (p.Leu69=) rs2151841946
NM_153717.3(EVC):c.2085G>C (p.Leu695=)
NM_153717.3(EVC):c.2094C>A (p.Ala698=)
NM_153717.3(EVC):c.2094C>G (p.Ala698=)
NM_153717.3(EVC):c.2094C>T (p.Ala698=)
NM_153717.3(EVC):c.2097+10G>T
NM_153717.3(EVC):c.2097+12A>G rs112766640
NM_153717.3(EVC):c.2098-13C>G
NM_153717.3(EVC):c.2098-20C>T
NM_153717.3(EVC):c.2098-5C>G rs747808287
NM_153717.3(EVC):c.2098-7C>G rs1448028337
NM_153717.3(EVC):c.2098-8C>T rs1560427583
NM_153717.3(EVC):c.2110C>T (p.Leu704=) rs1714403171
NM_153717.3(EVC):c.2112G>A (p.Leu704=)
NM_153717.3(EVC):c.2115G>A (p.Glu705=)
NM_153717.3(EVC):c.2118G>A (p.Glu706=)
NM_153717.3(EVC):c.2127G>A (p.Arg709=)
NM_153717.3(EVC):c.213T>C (p.Ser71=)
NM_153717.3(EVC):c.2152C>A (p.Arg718=) rs778287269
NM_153717.3(EVC):c.2154G>A (p.Arg718=) rs1714415040
NM_153717.3(EVC):c.2154G>T (p.Arg718=)
NM_153717.3(EVC):c.2155C>T (p.Leu719=) rs1236823435
NM_153717.3(EVC):c.2157G>A (p.Leu719=) rs1024015517
NM_153717.3(EVC):c.2187C>A (p.Ala729=)
NM_153717.3(EVC):c.2196G>A (p.Val732=)
NM_153717.3(EVC):c.2199G>A (p.Gly733=)
NM_153717.3(EVC):c.2199G>C (p.Gly733=)
NM_153717.3(EVC):c.219G>T (p.Ala73=)
NM_153717.3(EVC):c.21C>G (p.Ala7=)
NM_153717.3(EVC):c.2208G>A (p.Leu736=) rs2152345788
NM_153717.3(EVC):c.2217C>T (p.His739=) rs2152345808
NM_153717.3(EVC):c.221_222delinsCA (p.Gln74Pro)
NM_153717.3(EVC):c.222G>A (p.Gln74=)
NM_153717.3(EVC):c.2238G>A (p.Gln746=)
NM_153717.3(EVC):c.2240C>T (p.Ala747Val)
NM_153717.3(EVC):c.2247G>A (p.Leu749=)
NM_153717.3(EVC):c.2256A>G (p.Ala752=) rs746682279
NM_153717.3(EVC):c.2258G>A (p.Arg753Gln)
NM_153717.3(EVC):c.225C>A (p.Thr75=)
NM_153717.3(EVC):c.225C>G (p.Thr75=)
NM_153717.3(EVC):c.2262T>C (p.Asn754=) rs1714441484
NM_153717.3(EVC):c.2265A>C (p.Ala755=)
NM_153717.3(EVC):c.2271C>A (p.Thr757=) rs918804667
NM_153717.3(EVC):c.2274G>A (p.Lys758=) rs199611644
NM_153717.3(EVC):c.2274G>C (p.Lys758Asn)
NM_153717.3(EVC):c.2289C>T (p.Asp763=) rs2152346031
NM_153717.3(EVC):c.228C>G (p.Pro76=)
NM_153717.3(EVC):c.2295T>C (p.Asp765=) rs2152346059
NM_153717.3(EVC):c.2304+10G>C
NM_153717.3(EVC):c.2304+10G>T
NM_153717.3(EVC):c.2304+15_2304+16del
NM_153717.3(EVC):c.2304+19C>T
NM_153717.3(EVC):c.2304+8C>G
NM_153717.3(EVC):c.2304+9T>A rs2152346132
NM_153717.3(EVC):c.2305-13T>C
NM_153717.3(EVC):c.2305-15C>T
NM_153717.3(EVC):c.2305-17T>C
NM_153717.3(EVC):c.2305-19C>A
NM_153717.3(EVC):c.2305-19C>T
NM_153717.3(EVC):c.2305-8_2305-7delinsCT rs2152361700
NM_153717.3(EVC):c.2307G>A (p.Arg769=)
NM_153717.3(EVC):c.2310A>T (p.Thr770=)
NM_153717.3(EVC):c.2311C>T (p.Leu771=) rs763546632
NM_153717.3(EVC):c.2319G>A (p.Glu773=)
NM_153717.3(EVC):c.2322G>A (p.Ala774=) rs150373930
NM_153717.3(EVC):c.2328G>C (p.Val776=) rs913233513
NM_153717.3(EVC):c.2335G>A (p.Val779Ile) rs376396220
NM_153717.3(EVC):c.2340C>T (p.Tyr780=)
NM_153717.3(EVC):c.2346C>T (p.Thr782=)
NM_153717.3(EVC):c.2361C>T (p.Ser787=) rs1412709981
NM_153717.3(EVC):c.2367G>A (p.Leu789=)
NM_153717.3(EVC):c.2370G>A (p.Val790=)
NM_153717.3(EVC):c.2376G>C (p.Ala792=) rs1005244629
NM_153717.3(EVC):c.2388A>G (p.Gln796=)
NM_153717.3(EVC):c.2391C>T (p.Ile797=) rs202236029
NM_153717.3(EVC):c.2409C>T (p.Asp803=)
NM_153717.3(EVC):c.2434C>T (p.Leu812=) rs1161329338
NM_153717.3(EVC):c.243C>G (p.Ser81=)
NM_153717.3(EVC):c.2442C>T (p.Thr814=)
NM_153717.3(EVC):c.2445G>A (p.Leu815=)
NM_153717.3(EVC):c.2449+10C>A rs758387379
NM_153717.3(EVC):c.2449+10C>G
NM_153717.3(EVC):c.2449+10C>T rs758387379
NM_153717.3(EVC):c.2449+12C>T
NM_153717.3(EVC):c.2449+13C>G
NM_153717.3(EVC):c.2449+13C>T
NM_153717.3(EVC):c.2449+14C>A rs374386522
NM_153717.3(EVC):c.2449+14C>G rs374386522
NM_153717.3(EVC):c.2449+14C>T rs374386522
NM_153717.3(EVC):c.2449+15C>G
NM_153717.3(EVC):c.2449+15_2449+16insA
NM_153717.3(EVC):c.2449+9C>A
NM_153717.3(EVC):c.2450-16G>A
NM_153717.3(EVC):c.2450-18C>T
NM_153717.3(EVC):c.2450-4C>T rs1273594861
NM_153717.3(EVC):c.2450-7_2450-5dup rs2152375058
NM_153717.3(EVC):c.2450-8T>C rs1715583083
NM_153717.3(EVC):c.2454G>A (p.Glu818=) rs775144960
NM_153717.3(EVC):c.2463A>G (p.Glu821=) rs762865760
NM_153717.3(EVC):c.2484G>A (p.Lys828=) rs2152375180
NM_153717.3(EVC):c.2487A>G (p.Gln829=) rs1439220731
NM_153717.3(EVC):c.2499C>T (p.Asn833=) rs2152375210
NM_153717.3(EVC):c.24C>T (p.Cys8=)
NM_153717.3(EVC):c.2508G>A (p.Ser836=)
NM_153717.3(EVC):c.2514C>T (p.Ser838=)
NM_153717.3(EVC):c.2520G>C (p.Thr840=) rs187406722
NM_153717.3(EVC):c.2523A>C (p.Ala841=)
NM_153717.3(EVC):c.2547G>A (p.Gln849=) rs2152375378
NM_153717.3(EVC):c.2550G>T (p.Ala850=) rs754053651
NM_153717.3(EVC):c.2553C>T (p.Val851=) rs2152375406
NM_153717.3(EVC):c.2556C>T (p.His852=)
NM_153717.3(EVC):c.2561+10C>A
NM_153717.3(EVC):c.2561+11A>C
NM_153717.3(EVC):c.2561+12A>C
NM_153717.3(EVC):c.2561+12_2561+23dup rs1199616057
NM_153717.3(EVC):c.2561+13C>A
NM_153717.3(EVC):c.2561+18G>A
NM_153717.3(EVC):c.2561+8C>T
NM_153717.3(EVC):c.2562-13_2562-12delinsCC rs2152387572
NM_153717.3(EVC):c.2562-18del
NM_153717.3(EVC):c.2562-19C>G
NM_153717.3(EVC):c.2562-20G>T
NM_153717.3(EVC):c.2562-4C>A rs60082311
NM_153717.3(EVC):c.2562-4C>T rs60082311
NM_153717.3(EVC):c.2562-5C>A rs747812027
NM_153717.3(EVC):c.2562-6C>T rs1480753304
NM_153717.3(EVC):c.2566C>T (p.Leu856=)
NM_153717.3(EVC):c.2577G>A (p.Gln859=)
NM_153717.3(EVC):c.2580G>A (p.Lys860=) rs1264987350
NM_153717.3(EVC):c.2592C>G (p.Ala864=) rs2152387719
NM_153717.3(EVC):c.2601A>C (p.Pro867=)
NM_153717.3(EVC):c.2607C>T (p.His869=) rs774624157
NM_153717.3(EVC):c.2610G>A (p.Gln870=) rs2152387774
NM_153717.3(EVC):c.2613G>A (p.Gln871=)
NM_153717.3(EVC):c.2619T>A (p.Arg873=) rs1716320466
NM_153717.3(EVC):c.2620C>T (p.Leu874=)
NM_153717.3(EVC):c.2622G>T (p.Leu874=) rs1399378301
NM_153717.3(EVC):c.2631G>A (p.Gln877=)
NM_153717.3(EVC):c.2637G>A (p.Gln879=)
NM_153717.3(EVC):c.2643A>C (p.Ala881=)
NM_153717.3(EVC):c.2643A>G (p.Ala881=)
NM_153717.3(EVC):c.264A>G (p.Arg88=) rs1176423250
NM_153717.3(EVC):c.2664A>G (p.Glu888=) rs1161036004
NM_153717.3(EVC):c.2676G>A (p.Glu892=) rs761201243
NM_153717.3(EVC):c.2685A>G (p.Leu895=) rs2152387981
NM_153717.3(EVC):c.2688+11C>A
NM_153717.3(EVC):c.2688+11C>T
NM_153717.3(EVC):c.2688+19G>A
NM_153717.3(EVC):c.2688+8_2688+13del rs2152388021
NM_153717.3(EVC):c.2689-11_2689-8del
NM_153717.3(EVC):c.2689-16T>C
NM_153717.3(EVC):c.2689-19C>T
NM_153717.3(EVC):c.2689-20C>A
NM_153717.3(EVC):c.2689-8C>G
NM_153717.3(EVC):c.2709C>A (p.Ile903=) rs774968451
NM_153717.3(EVC):c.2709C>T (p.Ile903=) rs774968451
NM_153717.3(EVC):c.270G>A (p.Val90=)
NM_153717.3(EVC):c.2733A>C (p.Arg911=) rs1478690927
NM_153717.3(EVC):c.2733A>G (p.Arg911=)
NM_153717.3(EVC):c.2739C>A (p.Pro913=)
NM_153717.3(EVC):c.2739C>G (p.Pro913=) rs907113908
NM_153717.3(EVC):c.2739C>T (p.Pro913=) rs907113908
NM_153717.3(EVC):c.2757G>T (p.Leu919=) rs1219650896
NM_153717.3(EVC):c.2763T>C (p.Pro921=)
NM_153717.3(EVC):c.2775G>A (p.Gly925=)
NM_153717.3(EVC):c.2775G>C (p.Gly925=)
NM_153717.3(EVC):c.2782+12A>G
NM_153717.3(EVC):c.2782+13T>A rs2152392158
NM_153717.3(EVC):c.2782+15C>T
NM_153717.3(EVC):c.2782+15_2782+18dup
NM_153717.3(EVC):c.2782+19A>T
NM_153717.3(EVC):c.2782+7C>A rs1241416600
NM_153717.3(EVC):c.2782+8A>G rs760124824
NM_153717.3(EVC):c.2783-11G>A
NM_153717.3(EVC):c.2783-11del
NM_153717.3(EVC):c.2783-4A>G
NM_153717.3(EVC):c.2790C>A (p.Pro930=)
NM_153717.3(EVC):c.2793A>C (p.Leu931=)
NM_153717.3(EVC):c.2793A>G (p.Leu931=)
NM_153717.3(EVC):c.2796G>A (p.Arg932=)
NM_153717.3(EVC):c.2799T>G (p.Thr933=)
NM_153717.3(EVC):c.279G>C (p.Ser93=)
NM_153717.3(EVC):c.27G>A (p.Lys9=)
NM_153717.3(EVC):c.2814C>G (p.Pro938=)
NM_153717.3(EVC):c.2814C>T (p.Pro938=)
NM_153717.3(EVC):c.2817G>T (p.Leu939=) rs1716697966
NM_153717.3(EVC):c.2820C>G (p.Pro940=)
NM_153717.3(EVC):c.2835C>T (p.Asp945=) rs2152394497
NM_153717.3(EVC):c.2838G>A (p.Leu946=)
NM_153717.3(EVC):c.2838G>C (p.Leu946=)
NM_153717.3(EVC):c.2844G>T (p.Val948=)
NM_153717.3(EVC):c.2853T>C (p.Asn951=) rs371561252
NM_153717.3(EVC):c.2859C>T (p.Asp953=)
NM_153717.3(EVC):c.2862T>A (p.Leu954=) rs2152394578
NM_153717.3(EVC):c.2865C>T (p.Ala955=) rs1333691963
NM_153717.3(EVC):c.2883A>G (p.Ser961=) rs1248488328
NM_153717.3(EVC):c.2886C>G (p.Gly962=)
NM_153717.3(EVC):c.2889A>G (p.Ser963=) rs2152394684
NM_153717.3(EVC):c.288G>A (p.Lys96=) rs1577324357
NM_153717.3(EVC):c.2892C>A (p.Leu964=)
NM_153717.3(EVC):c.2894+11G>T
NM_153717.3(EVC):c.2894+12C>T
NM_153717.3(EVC):c.2894+14C>T
NM_153717.3(EVC):c.2894+15C>T
NM_153717.3(EVC):c.2894+16G>A
NM_153717.3(EVC):c.2894+18A>T
NM_153717.3(EVC):c.2894+7C>G rs2152394737
NM_153717.3(EVC):c.2894+8T>C
NM_153717.3(EVC):c.2895-10_2895-9del rs371125826
NM_153717.3(EVC):c.2895-12C>G
NM_153717.3(EVC):c.2895-12_2895-10del
NM_153717.3(EVC):c.2895-16del rs761097524
NM_153717.3(EVC):c.2895-20C>A
NM_153717.3(EVC):c.2895-20C>T
NM_153717.3(EVC):c.2895-5T>C
NM_153717.3(EVC):c.2895-8_2895-4del
NM_153717.3(EVC):c.2898C>T (p.Ser966=) rs1716824868
NM_153717.3(EVC):c.2913G>A (p.Gln971=) rs370649784
NM_153717.3(EVC):c.2916A>G (p.Gln972=) rs1285231247
NM_153717.3(EVC):c.2922T>C (p.Ser974=) rs2152396440
NM_153717.3(EVC):c.2925A>G (p.Glu975=) rs1399872123
NM_153717.3(EVC):c.2928T>A (p.Ala976=)
NM_153717.3(EVC):c.2931G>T (p.Gly977=)
NM_153717.3(EVC):c.2934C>T (p.Asp978=) rs1241792860
NM_153717.3(EVC):c.2946A>G (p.Ser982=) rs1388651029
NM_153717.3(EVC):c.2973C>T (p.Asn991=)
NM_153717.3(EVC):c.2976G>A (p.Leu992=) rs1577673719
NM_153717.3(EVC):c.2979G>A (p.Ter993=) rs767957964
NM_153717.3(EVC):c.297T>G (p.Val99=)
NM_153717.3(EVC):c.300+14T>G
NM_153717.3(EVC):c.300+17T>G
NM_153717.3(EVC):c.300+19T>C
NM_153717.3(EVC):c.300+20T>C
NM_153717.3(EVC):c.300+24_300+27del
NM_153717.3(EVC):c.300+7T>A
NM_153717.3(EVC):c.301-10dup
NM_153717.3(EVC):c.301-13C>G
NM_153717.3(EVC):c.301-7C>T rs764925850
NM_153717.3(EVC):c.301-9C>G rs1726395310
NM_153717.3(EVC):c.312G>T (p.Pro104=)
NM_153717.3(EVC):c.31G>A (p.Asp11Asn)
NM_153717.3(EVC):c.333A>G (p.Thr111=)
NM_153717.3(EVC):c.333A>T (p.Thr111=)
NM_153717.3(EVC):c.354A>G (p.Lys118=) rs2151919308
NM_153717.3(EVC):c.360C>A (p.Ile120=) rs2151919327
NM_153717.3(EVC):c.37C>T (p.Arg13Trp)
NM_153717.3(EVC):c.384+10C>G
NM_153717.3(EVC):c.384+10C>T
NM_153717.3(EVC):c.384+10_384+12dup rs2151919610
NM_153717.3(EVC):c.384+10del
NM_153717.3(EVC):c.384+12G>C rs1192867917
NM_153717.3(EVC):c.384+15C>G
NM_153717.3(EVC):c.385-13A>G
NM_153717.3(EVC):c.385-20G>A
NM_153717.3(EVC):c.385-20G>T
NM_153717.3(EVC):c.385-6C>T rs1167563102
NM_153717.3(EVC):c.385-7A>T
NM_153717.3(EVC):c.390G>T (p.Leu130=) rs2151934901
NM_153717.3(EVC):c.393C>G (p.Ala131=)
NM_153717.3(EVC):c.393C>T (p.Ala131=) rs374197757
NM_153717.3(EVC):c.399C>T (p.Gly133=)
NM_153717.3(EVC):c.39G>A (p.Arg13=) rs1479357518
NM_153717.3(EVC):c.402C>T (p.Ser134=)
NM_153717.3(EVC):c.405C>T (p.Ser135=) rs2151934982
NM_153717.3(EVC):c.411G>T (p.Pro137=)
NM_153717.3(EVC):c.414T>C (p.Ser138=)
NM_153717.3(EVC):c.417G>T (p.Leu139=)
NM_153717.3(EVC):c.42G>A (p.Leu14=) rs1213156946
NM_153717.3(EVC):c.435G>A (p.Gln145=)
NM_153717.3(EVC):c.438T>C (p.Ala146=)
NM_153717.3(EVC):c.438T>G (p.Ala146=) rs200690823
NM_153717.3(EVC):c.441T>G (p.Val147=) rs1192506036
NM_153717.3(EVC):c.456G>C (p.Pro152=)
NM_153717.3(EVC):c.456G>T (p.Pro152=)
NM_153717.3(EVC):c.459A>G (p.Val153=)
NM_153717.3(EVC):c.462G>A (p.Glu154=) rs1019139111
NM_153717.3(EVC):c.465C>G (p.Ala155=) rs146706283
NM_153717.3(EVC):c.477C>T (p.Ser159=) rs2151935441
NM_153717.3(EVC):c.480T>C (p.Ser160=) rs2151935461
NM_153717.3(EVC):c.489C>T (p.Ser163=)
NM_153717.3(EVC):c.48G>A (p.Leu16=)
NM_153717.3(EVC):c.492G>A (p.Leu164=)
NM_153717.3(EVC):c.507G>A (p.Lys169=)
NM_153717.3(EVC):c.528C>G (p.Ser176=)
NM_153717.3(EVC):c.528C>T (p.Ser176=) rs532386294
NM_153717.3(EVC):c.531C>T (p.Ser177=) rs542910336
NM_153717.3(EVC):c.537C>T (p.His179=)
NM_153717.3(EVC):c.540G>T (p.Ser180=)
NM_153717.3(EVC):c.54G>C (p.Arg18=) rs1050002700
NM_153717.3(EVC):c.54G>T (p.Arg18=) rs1050002700
NM_153717.3(EVC):c.564C>G (p.Leu188=)
NM_153717.3(EVC):c.573C>G (p.Thr191=)
NM_153717.3(EVC):c.579C>T (p.Leu193=)
NM_153717.3(EVC):c.589G>A (p.Ala197Thr)
NM_153717.3(EVC):c.589G>T (p.Ala197Ser) rs115507440
NM_153717.3(EVC):c.591C>G (p.Ala197=)
NM_153717.3(EVC):c.594C>T (p.Phe198=) rs1224007808
NM_153717.3(EVC):c.597T>C (p.Pro199=)
NM_153717.3(EVC):c.603G>A (p.Val201=) rs2151936107
NM_153717.3(EVC):c.604C>T (p.Leu202=)
NM_153717.3(EVC):c.609C>T (p.Ala203=) rs2151936137
NM_153717.3(EVC):c.60G>C (p.Ala20=)
NM_153717.3(EVC):c.617+11C>T
NM_153717.3(EVC):c.617+12G>A
NM_153717.3(EVC):c.617+14G>T
NM_153717.3(EVC):c.617+15C>A
NM_153717.3(EVC):c.617+15C>T
NM_153717.3(EVC):c.617+18T>C
NM_153717.3(EVC):c.617+18T>G
NM_153717.3(EVC):c.617+19G>A
NM_153717.3(EVC):c.617+20G>T
NM_153717.3(EVC):c.618-13T>A
NM_153717.3(EVC):c.618-14A>C rs767274362
NM_153717.3(EVC):c.618-15C>T
NM_153717.3(EVC):c.618-18T>G
NM_153717.3(EVC):c.618-19T>C
NM_153717.3(EVC):c.618-9A>T rs2151945814
NM_153717.3(EVC):c.630C>T (p.Asp210=) rs1339867475
NM_153717.3(EVC):c.633G>T (p.Leu211=)
NM_153717.3(EVC):c.636T>C (p.Cys212=) rs2151945944
NM_153717.3(EVC):c.642C>T (p.Tyr214=) rs2151945971
NM_153717.3(EVC):c.64C>A (p.Arg22=) rs1267604048
NM_153717.3(EVC):c.651C>T (p.His217=)
NM_153717.3(EVC):c.666G>A (p.Leu222=) rs1560299816
NM_153717.3(EVC):c.66G>A (p.Arg22=)
NM_153717.3(EVC):c.66G>C (p.Arg22=)
NM_153717.3(EVC):c.678G>A (p.Thr226=)
NM_153717.3(EVC):c.678G>C (p.Thr226=) rs772621806
NM_153717.3(EVC):c.681A>G (p.Ala227=)
NM_153717.3(EVC):c.69G>A (p.Pro23=) rs1722996127
NM_153717.3(EVC):c.702+10G>T
NM_153717.3(EVC):c.702+12T>C
NM_153717.3(EVC):c.702+13G>A
NM_153717.3(EVC):c.702+15T>C
NM_153717.3(EVC):c.702+17G>A
NM_153717.3(EVC):c.702+18C>T
NM_153717.3(EVC):c.702+9A>T rs1415648336
NM_153717.3(EVC):c.703-10T>G rs1231822006
NM_153717.3(EVC):c.703-13T>A
NM_153717.3(EVC):c.703-15C>T
NM_153717.3(EVC):c.703-17T>C
NM_153717.3(EVC):c.703-19T>G
NM_153717.3(EVC):c.703-20C>T
NM_153717.3(EVC):c.703-5_703-4dup
NM_153717.3(EVC):c.703-7G>A rs2152000339
NM_153717.3(EVC):c.703-8G>C
NM_153717.3(EVC):c.729C>T (p.Cys243=)
NM_153717.3(EVC):c.72G>C (p.Ala24=)
NM_153717.3(EVC):c.72G>T (p.Ala24=)
NM_153717.3(EVC):c.732C>T (p.Leu244=) rs1035355173
NM_153717.3(EVC):c.736G>T (p.Asp246Tyr)
NM_153717.3(EVC):c.73C>T (p.Pro25Ser)
NM_153717.3(EVC):c.747T>A (p.Pro249=)
NM_153717.3(EVC):c.75C>A (p.Pro25=)
NM_153717.3(EVC):c.75C>G (p.Pro25=) rs1377348889
NM_153717.3(EVC):c.75C>T (p.Pro25=) rs1377348889
NM_153717.3(EVC):c.765T>C (p.Asp255=) rs2152000814
NM_153717.3(EVC):c.768A>G (p.Glu256=) rs2152000830
NM_153717.3(EVC):c.786T>C (p.Leu262=)
NM_153717.3(EVC):c.792A>G (p.Lys264=) rs2152001052
NM_153717.3(EVC):c.801+12A>G
NM_153717.3(EVC):c.801+13C>T rs545838582
NM_153717.3(EVC):c.801+14C>A
NM_153717.3(EVC):c.801+16A>T
NM_153717.3(EVC):c.801+16_801+17del
NM_153717.3(EVC):c.802-12_802-8del rs753304898
NM_153717.3(EVC):c.802-17TTC[3] rs370315662
NM_153717.3(EVC):c.802-17TTC[4] rs370315662
NM_153717.3(EVC):c.802-18T>C
NM_153717.3(EVC):c.802-19T>C
NM_153717.3(EVC):c.802-6C>T rs773954366
NM_153717.3(EVC):c.802-9C>A rs1309092985
NM_153717.3(EVC):c.802-9C>T rs1309092985
NM_153717.3(EVC):c.807G>A (p.Leu269=)
NM_153717.3(EVC):c.813A>G (p.Glu271=)
NM_153717.3(EVC):c.81G>T (p.Leu27=) rs2151767494
NM_153717.3(EVC):c.822G>A (p.Lys274=)
NM_153717.3(EVC):c.82C>T (p.Leu28=)
NM_153717.3(EVC):c.831G>A (p.Gln277=) rs2152027341
NM_153717.3(EVC):c.834C>T (p.Val278=) rs575589201
NM_153717.3(EVC):c.843A>G (p.Ser281=) rs2152027396
NM_153717.3(EVC):c.846C>T (p.Asn282=)
NM_153717.3(EVC):c.84G>A (p.Leu28=)
NM_153717.3(EVC):c.858G>T (p.Ser286=)
NM_153717.3(EVC):c.861G>A (p.Gly287=)
NM_153717.3(EVC):c.870C>T (p.Asp290=)
NM_153717.3(EVC):c.873T>A (p.Ser291=) rs1577407384
NM_153717.3(EVC):c.879C>T (p.Tyr293=)
NM_153717.3(EVC):c.87C>G (p.Ala29=)
NM_153717.3(EVC):c.87C>T (p.Ala29=)
NM_153717.3(EVC):c.891T>A (p.Ala297=)
NM_153717.3(EVC):c.891T>C (p.Ala297=)
NM_153717.3(EVC):c.903G>A (p.Lys301=) rs2152027698
NM_153717.3(EVC):c.90C>T (p.Pro30=)
NM_153717.3(EVC):c.928C>T (p.Leu310=) rs145300726
NM_153717.3(EVC):c.930A>G (p.Leu310=) rs776792609
NM_153717.3(EVC):c.933C>T (p.Ile311=) rs759718572
NM_153717.3(EVC):c.936T>C (p.Asp312=) rs1294633111
NM_153717.3(EVC):c.939+10_939+11delinsGT rs2152027986
NM_153717.3(EVC):c.939+11G>A
NM_153717.3(EVC):c.939+12A>C
NM_153717.3(EVC):c.939+13C>A
NM_153717.3(EVC):c.939+16T>A
NM_153717.3(EVC):c.939+16T>C
NM_153717.3(EVC):c.939+17C>T
NM_153717.3(EVC):c.939+20T>A
NM_153717.3(EVC):c.939+9_939+10inv
NM_153717.3(EVC):c.93C>T (p.Ala31=) rs866226288
NM_153717.3(EVC):c.940-14T>C
NM_153717.3(EVC):c.940-15G>A
NM_153717.3(EVC):c.940-15G>T
NM_153717.3(EVC):c.940-6T>C rs2152044901
NM_153717.3(EVC):c.940-9A>G rs1241925243
NM_153717.3(EVC):c.945A>G (p.Glu315=) rs1057523442
NM_153717.3(EVC):c.957A>G (p.Lys319=) rs2152045024
NM_153717.3(EVC):c.96G>A (p.Val32=) rs2151767783
NM_153717.3(EVC):c.987G>A (p.Val329=)
NM_153717.3(EVC):c.990C>T (p.Asp330=) rs2152045173
NM_153717.3(EVC):c.999G>A (p.Lys333=) rs1729659333
NM_153717.3(EVC):c.9C>A (p.Arg3=) rs1330946337
NM_170707.4(LMNA):c.1381-6C>G rs371635492
NM_170707.4(LMNA):c.1485G>A (p.Val495=) rs1651703234
NM_170707.4(LMNA):c.1659C>T (p.Asp553=) rs748768783
NM_170707.4(LMNA):c.1968+18dup rs554157057
NM_170707.4(LMNA):c.927C>A (p.Leu309=) rs752558753
NM_181486.4(TBX5):c.*1477_*1480del rs564562667
NM_181486.4(TBX5):c.*836A>C rs537303672
NM_203486.3(DLL3):c.616C>G (p.Pro206Ala) rs376905666

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