List of variants studied for aortic valve disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 2382

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HGVS	dbSNP	gnomAD frequency
NM_017617.5(NOTCH1):c.1669+9T>C	rs3125006	0.88208
NM_000501.4(ELN):c.1315+17C>T	rs2856728	0.79828
NM_017617.5(NOTCH1):c.3325+21A>G	rs3124597	0.66794
NM_017617.5(NOTCH1):c.2970-31A>G	rs3124598	0.66710
NM_017617.5(NOTCH1):c.1556-43T>C	rs4880099	0.63476
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=)	rs4489420	0.62688
NM_017617.5(NOTCH1):c.5473-43T>C	rs3124594	0.62391
NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=)	rs2229974	0.58641
NM_017617.5(NOTCH1):c.1441+7C>T	rs9411208	0.57467
NM_017617.5(NOTCH1):c.2588-4G>A	rs3125001	0.48926
NM_017617.5(NOTCH1):c.1555+10A>G	rs11145767	0.47945
NM_017617.5(NOTCH1):c.1670-9A>G	rs3124603	0.47096
NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=)	rs10521	0.43502
NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=)	rs2229971	0.42989
NM_017617.5(NOTCH1):c.1442-43C>T	rs9411254	0.40689
NM_000501.4(ELN):c.501_502insA	rs34208922	0.30369
NM_005585.5(SMAD6):c.875-22C>A	rs2278604	0.23475
NM_000501.4(ELN):c.*1194A>G	rs10233395	0.12697
NM_017617.5(NOTCH1):c.852G>A (p.Pro284=)	rs2229975	0.12249
NM_017617.5(NOTCH1):c.6180+44T>C	rs9632944	0.12085
NM_017617.5(NOTCH1):c.2740+12C>T	rs36119806	0.11457
NM_017617.5(NOTCH1):c.3171+42G>A	rs11145765	0.08084
NM_017617.5(NOTCH1):c.5639-12C>T	rs11574908	0.06332
NM_181486.4(TBX5):c.309C>T (p.Leu103=)	rs28730763	0.04319
NM_017617.5(NOTCH1):c.7233A>G (p.Pro2411=)	rs11574911	0.02871
NM_000501.4(ELN):c.2033-16A>G	rs45618836	0.02805
NM_000501.4(ELN):c.2086+5G>C	rs111866046	0.02303
NM_017617.5(NOTCH1):c.2587+20G>A	rs148381982	0.01991
NM_181486.4(TBX5):c.148-19T>A	rs80026530	0.01865
NM_017617.5(NOTCH1):c.711C>T (p.Gly237=)	rs61751557	0.01860
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile)	rs61751489	0.01849
NM_181486.4(TBX5):c.1281C>T (p.Ser427=)	rs6489957	0.01766
NM_017617.5(NOTCH1):c.2205C>T (p.Asn735=)	rs2229970	0.01759
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His)	rs61751543	0.01655
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser)	rs61751542	0.01511
NM_017617.5(NOTCH1):c.*6G>A	rs73668310	0.01480
NM_017617.5(NOTCH1):c.2468-19G>A	rs116515776	0.01328
NM_017617.5(NOTCH1):c.1100-16G>C	rs146815871	0.01292
NM_017617.5(NOTCH1):c.5679C>T (p.Gly1893=)	rs2229973	0.01198
NM_017617.5(NOTCH1):c.2664C>T (p.His888=)	rs61751548	0.01162
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=)	rs11574895	0.01135
NM_000501.4(ELN):c.427+8C>T	rs55868272	0.01032
NM_017617.5(NOTCH1):c.6648G>A (p.Pro2216=)	rs3812596	0.01000
NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=)	rs148331061	0.00992
NM_017617.5(NOTCH1):c.7515T>G (p.Pro2505=)	rs34152221	0.00938
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile)	rs2229968	0.00898
NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=)	rs11574889	0.00854
NM_000501.4(ELN):c.*383T>G	rs184490734	0.00783
NM_017617.5(NOTCH1):c.2969+13C>T	rs7864720	0.00778
NM_000501.3(ELN):c.-38C>T	rs41410045	0.00756
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=)	rs201354526	0.00754
NM_000501.4(ELN):c.1622-13C>T	rs41362346	0.00728
NM_000501.4(ELN):c.*548G>A	rs117454480	0.00696
NM_181486.4(TBX5):c.982+16C>T	rs28730762	0.00694
NM_017617.5(NOTCH1):c.663C>T (p.Pro221=)	rs11574872	0.00685
NM_017617.5(NOTCH1):c.5019-13A>G	rs148002954	0.00648
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu)	rs80340744	0.00645
NM_017617.5(NOTCH1):c.5168-10G>A	rs199903655	0.00645
NM_017617.5(NOTCH1):c.6777T>C (p.Gly2259=)	rs61751490	0.00638
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser)	rs114832250	0.00587
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=)	rs35980907	0.00561
NM_017617.5(NOTCH1):c.6991G>A (p.Ala2331Thr)	rs111309246	0.00557
NM_005585.5(SMAD6):c.139C>T (p.Pro47Ser)	rs368960350	0.00546
NM_005585.5(SMAD6):c.711C>T (p.His237=)	rs144415105	0.00542
NM_005585.5(SMAD6):c.1167C>T (p.Phe389=)	rs12591946	0.00538
NM_000501.4(ELN):c.1388A>G (p.Lys463Arg)	rs34945509	0.00505
NM_005585.5(SMAD6):c.61G>A (p.Asp21Asn)	rs188799901	0.00505
NM_017617.5(NOTCH1):c.7209G>A (p.Gln2403=)	rs61751486	0.00503
NM_017617.5(NOTCH1):c.6397C>T (p.Pro2133Ser)	rs61733294	0.00484
NM_017617.5(NOTCH1):c.873C>T (p.Tyr291=)	rs143654474	0.00477
NM_000501.4(ELN):c.493G>T (p.Val165Leu)	rs61734581	0.00472
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=)	rs61751545	0.00435
NM_000501.4(ELN):c.*172G>A	rs56120764	0.00427
NM_181486.4(TBX5):c.787G>A (p.Val263Met)	rs147405081	0.00423
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His)	rs76371972	0.00404
NM_017617.5(NOTCH1):c.62-8C>T	rs202023246	0.00401
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=)	rs61751488	0.00398
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr)	rs77357563	0.00382
NM_000501.4(ELN):c.*1195C>T	rs115872030	0.00381
NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=)	rs61751540	0.00377
NM_000501.4(ELN):c.*429C>T	rs62476387	0.00365
NM_000501.4(ELN):c.892G>A (p.Val298Ile)	rs41526244	0.00347
NM_017617.5(NOTCH1):c.2207+10G>A	rs191892426	0.00343
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=)	rs61751538	0.00341
NM_017617.5(NOTCH1):c.5226C>T (p.Ala1742=)	rs116316039	0.00334
NM_000501.4(ELN):c.921A>G (p.Ala307=)	rs6979788	0.00327
NM_017617.5(NOTCH1):c.1669+13G>A	rs147260092	0.00319
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp)	rs41511151	0.00318
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys)	rs35136134	0.00318
NM_017617.5(NOTCH1):c.2769A>G (p.Thr923=)	rs201985795	0.00314
NM_017617.5(NOTCH1):c.4827C>T (p.Asp1609=)	rs113634293	0.00308
NM_017617.5(NOTCH1):c.5445C>T (p.Asp1815=)	rs61751535	0.00307
NM_181486.4(TBX5):c.1234G>A (p.Val412Ile)	rs114124210	0.00301
NM_000501.4(ELN):c.1279C>G (p.Pro427Ala)	rs144341345	0.00297
NM_019055.6(ROBO4):c.1985G>A (p.Gly662Asp)	rs145067866	0.00297
NM_017617.5(NOTCH1):c.5384+13C>T	rs112582298	0.00291
NM_017617.5(NOTCH1):c.5673C>T (p.Ser1891=)	rs2229972	0.00289
NM_017617.5(NOTCH1):c.7338G>A (p.Leu2446=)	rs35320927	0.00289
NM_000501.4(ELN):c.1828G>A (p.Gly610Ser)	rs140425210	0.00288
NM_000501.4(ELN):c.1566T>A (p.Gly522=)	rs61734584	0.00283
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=)	rs61751546	0.00283
NM_000501.4(ELN):c.1858+20G>A	rs200965648	0.00270
NM_005585.5(SMAD6):c.817+9G>C	rs200726236	0.00239
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=)	rs61751536	0.00238
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=)	rs186453356	0.00235
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp)	rs201620358	0.00223
NM_017617.5(NOTCH1):c.4626C>T (p.Asp1542=)	rs142375989	0.00207
NM_017617.5(NOTCH1):c.7289G>C (p.Gly2430Ala)	rs36049318	0.00200
NM_017617.5(NOTCH1):c.2813G>A (p.Arg938Gln)	rs35962301	0.00195
NM_181486.4(TBX5):c.114C>T (p.Ser38=)	rs34014008	0.00194
NM_001349338.3(FOXP1):c.1702C>T (p.Pro568Ser)	rs147674680	0.00185
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=)	rs61751539	0.00182
NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=)	rs376744729	0.00178
NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=)	rs3812602	0.00175
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val)	rs183156491	0.00171
NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn)	rs191357265	0.00156
NM_005585.5(SMAD6):c.1359C>T (p.Asp453=)	rs368834798	0.00154
NM_017617.5(NOTCH1):c.1122C>T (p.Asp374=)	rs192683347	0.00148
NM_017617.5(NOTCH1):c.4056C>T (p.Cys1352=)	rs200099319	0.00147
NM_017617.5(NOTCH1):c.52G>A (p.Ala18Thr)	rs754613772	0.00145
NM_181486.4(TBX5):c.804C>G (p.Ala268=)	rs35110399	0.00143
NM_000501.4(ELN):c.1861G>A (p.Ala621Thr)	rs150404125	0.00142
NM_005585.5(SMAD6):c.79A>G (p.Ser27Gly)	rs374058045	0.00142
NM_017617.5(NOTCH1):c.2207+16G>A	rs200956009	0.00139
NM_000501.4(ELN):c.1358-253G>A	rs370619098	0.00136
NM_017617.5(NOTCH1):c.3511-10G>A	rs139838537	0.00134
NM_017617.5(NOTCH1):c.865+18C>T	rs55677618	0.00133
NM_005585.5(SMAD6):c.336C>A (p.Gly112=)	rs371330988	0.00123
NM_017617.5(NOTCH1):c.2970-20G>A	rs367927174	0.00116
NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val)	rs188270459	0.00115
NM_017617.5(NOTCH1):c.1511G>A (p.Arg504His)	rs201768800	0.00110
NM_000501.4(ELN):c.1821G>C (p.Gly607=)	rs144835575	0.00109
NM_005585.5(SMAD6):c.909G>A (p.Thr303=)	rs139719094	0.00108
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=)	rs188357478	0.00108
NM_000501.4(ELN):c.469+14G>A	rs41347751	0.00103
NM_017617.5(NOTCH1):c.2604C>T (p.Val868=)	rs115235667	0.00103
NM_000501.4(ELN):c.1358-268A>G	rs374066807	0.00102
NM_005585.5(SMAD6):c.362G>A (p.Cys121Tyr)	rs80232004	0.00101
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=)	rs61751553	0.00093
NM_017617.5(NOTCH1):c.1862G>A (p.Arg621His)	rs138504021	0.00092
NM_005585.5(SMAD6):c.290G>A (p.Gly97Glu)	rs566777509	0.00089
NM_181486.4(TBX5):c.836G>A (p.Arg279Gln)	rs115178276	0.00087
NM_017617.5(NOTCH1):c.1650C>T (p.Tyr550=)	rs371634784	0.00086
NM_181486.4(TBX5):c.316A>G (p.Ile106Val)	rs147710408	0.00086
NM_000501.4(ELN):c.259T>C (p.Phe87Leu)	rs140411170	0.00080
NM_017617.5(NOTCH1):c.1440C>T (p.Pro480=)	rs61751555	0.00080
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met)	rs187473846	0.00074
NM_000501.4(ELN):c.1232T>G (p.Val411Gly)	rs200180992	0.00073
NM_000501.4(ELN):c.212C>T (p.Ala71Val)	rs41350445	0.00073
NM_017617.5(NOTCH1):c.1962C>T (p.Thr654=)	rs61751554	0.00073
NM_017617.5(NOTCH1):c.3401A>G (p.Gln1134Arg)	rs374230681	0.00070
NM_017617.5(NOTCH1):c.5500C>T (p.Leu1834=)	rs73668312	0.00070
NM_017617.5(NOTCH1):c.3384G>A (p.Thr1128=)	rs200608278	0.00069
NM_017617.5(NOTCH1):c.1389C>T (p.Asn463=)	rs61733293	0.00068
NM_000501.4(ELN):c.326-20C>T	rs200397639	0.00066
NM_005585.5(SMAD6):c.1184A>G (p.Lys395Arg)	rs149949971	0.00065
NM_017617.5(NOTCH1):c.7536G>A (p.Pro2512=)	rs192299793	0.00064
NM_017617.5(NOTCH1):c.3115G>A (p.Gly1039Ser)	rs200207651	0.00063
NM_017617.5(NOTCH1):c.6363C>T (p.Ser2121=)	rs61751533	0.00062
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr)	rs191645600	0.00061
NM_017617.5(NOTCH1):c.5967T>C (p.Asp1989=)	rs73668311	0.00061
NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=)	rs371365065	0.00058
NM_000501.4(ELN):c.1507G>A (p.Val503Met)	rs41523046	0.00057
NM_017617.5(NOTCH1):c.1100-14C>T	rs562148507	0.00056
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser)	rs199654211	0.00056
NM_181486.4(TBX5):c.55G>T (p.Ala19Ser)	rs200461617	0.00054
NM_000501.4(ELN):c.470-10C>G	rs200663056	0.00053
NM_017617.5(NOTCH1):c.2136C>A (p.Thr712=)	rs369346436	0.00053
NM_017617.5(NOTCH1):c.3249C>T (p.Cys1083=)	rs139994842	0.00053
NM_017617.5(NOTCH1):c.4653C>T (p.Ser1551=)	rs368495371	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_181486.4(TBX5):c.747A>G (p.Arg249=)	rs138552878	0.00051
NM_181486.4(TBX5):c.827G>A (p.Ser276Asn)	rs147977741	0.00049
NM_000501.4(ELN):c.278C>T (p.Pro93Leu)	rs181019457	0.00048
NM_017617.5(NOTCH1):c.2505C>A (p.Pro835=)	rs111756273	0.00047
NM_000501.4(ELN):c.1621+12G>A	rs200937895	0.00046
NM_005585.5(SMAD6):c.447C>T (p.Ala149=)	rs181184476	0.00045
NM_017617.5(NOTCH1):c.5403A>G (p.Ser1801=)	rs201358664	0.00045
NM_017617.5(NOTCH1):c.7390C>T (p.Leu2464=)	rs372760677	0.00045
NM_017617.5(NOTCH1):c.3831C>T (p.Asp1277=)	rs374989581	0.00044
NM_000501.4(ELN):c.1697C>T (p.Ala566Val)	rs138876104	0.00043
NM_017617.5(NOTCH1):c.3901+3G>A	rs373113999	0.00043
NM_017617.5(NOTCH1):c.7449G>A (p.Thr2483=)	rs375728200	0.00043
NM_005585.5(SMAD6):c.1029G>T (p.Val343=)	rs139975027	0.00041
NM_017617.5(NOTCH1):c.2325C>T (p.Tyr775=)	rs749686245	0.00041
NM_000501.4(ELN):c.326G>A (p.Gly109Asp)	rs145519139	0.00040
NM_017617.5(NOTCH1):c.3644-4G>A	rs376161552	0.00040
NM_017617.5(NOTCH1):c.3326-11A>C	rs377648586	0.00039
NM_017617.5(NOTCH1):c.7369C>G (p.Leu2457Val)	rs61755043	0.00039
NM_181486.4(TBX5):c.354T>C (p.Asp118=)	rs151249768	0.00039
NM_000501.4(ELN):c.*238C>T	rs546341976	0.00038
NM_005585.5(SMAD6):c.1256C>T (p.Ala419Val)	rs145093897	0.00038
NM_017617.5(NOTCH1):c.2646A>T (p.Ala882=)	rs61751550	0.00038
NM_000501.4(ELN):c.1358-225T>C	rs375867140	0.00036
NM_017617.5(NOTCH1):c.432C>T (p.Cys144=)	rs373713957	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_000501.4(ELN):c.1358-199G>A	rs781963901	0.00034
NM_000501.4(ELN):c.366A>G (p.Gly122=)	rs61734587	0.00034
NM_000501.4(ELN):c.647G>T (p.Gly216Val)	rs145612009	0.00034
NM_000501.4(ELN):c.931G>A (p.Ala311Thr)	rs41376344	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_017617.5(NOTCH1):c.1038C>T (p.His346=)	rs376951155	0.00033
NM_000501.4(ELN):c.2109C>T (p.Phe703=)	rs149755814	0.00032
NM_017617.5(NOTCH1):c.3042G>A (p.Thr1014=)	rs371532644	0.00032
NM_000501.4(ELN):c.1884C>T (p.Ala628=)	rs372315353	0.00031
NM_000501.4(ELN):c.1999C>T (p.Pro667Ser)	rs142316834	0.00031
NM_017617.5(NOTCH1):c.186G>C (p.Pro62=)	rs374320445	0.00031
NM_005585.5(SMAD6):c.761C>A (p.Ala254Asp)	rs529866697	0.00030
NM_181486.4(TBX5):c.1115C>T (p.Ser372Leu)	rs143068551	0.00030
NM_181486.4(TBX5):c.865T>G (p.Ser289Ala)	rs543015692	0.00030
NM_000501.4(ELN):c.*562A>C	rs539096901	0.00029
NM_000501.4(ELN):c.1747+109A>G	rs782414975	0.00029
NM_000501.4(ELN):c.1747+82C>A	rs186744935	0.00029
NM_017617.5(NOTCH1):c.4548C>T (p.Phe1516=)	rs199740882	0.00029
NM_005585.5(SMAD6):c.858C>T (p.Asp286=)	rs141679164	0.00028
NM_181486.4(TBX5):c.948G>A (p.Glu316=)	rs767086503	0.00028
NM_019055.6(ROBO4):c.691T>A (p.Tyr231Asn)	rs149517154	0.00027
NM_000501.4(ELN):c.1909G>A (p.Ala637Thr)	rs536177240	0.00026
NM_017617.5(NOTCH1):c.4407C>T (p.Asn1469=)	rs202231073	0.00026
NM_017617.5(NOTCH1):c.5638+19A>G	rs368675083	0.00026
NM_000501.4(ELN):c.1414+19C>T	rs201440090	0.00025
NM_000501.4(ELN):c.930C>T (p.Ala310=)	rs147367888	0.00025
NM_181486.4(TBX5):c.100G>T (p.Ala34Ser)	rs368311885	0.00025
NM_000501.4(ELN):c.861G>A (p.Gly287=)	rs368610108	0.00024
NM_005585.5(SMAD6):c.1260C>T (p.Pro420=)	rs371930288	0.00024
NM_005585.5(SMAD6):c.224G>A (p.Arg75Gln)	rs373376338	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_181486.4(TBX5):c.147+13C>A	rs201290379	0.00024
NM_181486.4(TBX5):c.318T>C (p.Ile106=)	rs141457646	0.00024
NM_005585.5(SMAD6):c.173C>G (p.Ser58Cys)	rs756752655	0.00023
NM_005585.5(SMAD6):c.240G>A (p.Ala80=)	rs937555039	0.00023
NM_005585.5(SMAD6):c.328C>T (p.Pro110Ser)	rs773431944	0.00023
NM_017617.5(NOTCH1):c.6975T>C (p.Pro2325=)	rs200814776	0.00023
NM_000501.4(ELN):c.1358-234G>C	rs1011146056	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_000501.4(ELN):c.1373C>A (p.Ala458Glu)	rs149117932	0.00021
NM_000501.4(ELN):c.1747+83C>T	rs191593990	0.00021
NM_017617.5(NOTCH1):c.2263_2265del (p.Asn755del)	rs587778559	0.00021
NM_017617.5(NOTCH1):c.2970-9C>T	rs568052902	0.00021
NM_017617.5(NOTCH1):c.6685G>A (p.Val2229Met)	rs202096917	0.00021
NM_017617.5(NOTCH1):c.7387G>A (p.Ala2463Thr)	rs537210445	0.00021
NM_080473.5(GATA5):c.1159C>T (p.Arg387Cys)	rs145205240	0.00021
NM_000501.4(ELN):c.1994-7T>G	rs375277198	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.7090A>G (p.Ser2364Gly)	rs201045092	0.00020
NM_000501.4(ELN):c.*95C>T	rs181078432	0.00019
NM_000501.4(ELN):c.381G>A (p.Ala127=)	rs148216123	0.00019
NM_000501.4(ELN):c.427+9G>A	rs370752724	0.00019
NM_000501.4(ELN):c.949+14G>A	rs200929398	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_019055.6(ROBO4):c.190C>T (p.Arg64Cys)	rs201393279	0.00019
NM_181486.4(TBX5):c.600G>T (p.Ala200=)	rs139329918	0.00019
NM_181486.4(TBX5):c.68C>A (p.Pro23His)	rs141609745	0.00019
NM_005585.5(SMAD6):c.431C>T (p.Pro144Leu)	rs574652189	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_181486.4(TBX5):c.510+13G>T	rs192482520	0.00018
NM_000501.4(ELN):c.1467C>T (p.Val489=)	rs200512332	0.00017
NM_000501.4(ELN):c.1747+26C>T	rs371491330	0.00017
NM_000501.4(ELN):c.992C>T (p.Pro331Leu)	rs138504338	0.00017
NM_005585.5(SMAD6):c.636C>T (p.Asp212=)	rs575612166	0.00017
NM_017617.5(NOTCH1):c.1556-9C>T	rs150834418	0.00017
NM_017617.5(NOTCH1):c.2427C>T (p.Asp809=)	rs775162462	0.00017
NM_017617.5(NOTCH1):c.4095C>T (p.Ser1365=)	rs202023240	0.00017
NM_017617.5(NOTCH1):c.454G>A (p.Gly152Ser)	rs750242131	0.00017
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser)	rs367825691	0.00017
NM_000501.4(ELN):c.1338C>T (p.Ala446=)	rs146576615	0.00016
NM_000501.4(ELN):c.249C>T (p.Pro83=)	rs565001805	0.00016
NM_005585.5(SMAD6):c.998G>C (p.Ser333Thr)	rs199531653	0.00016
NM_017617.5(NOTCH1):c.1689C>T (p.Cys563=)	rs760548976	0.00016
NM_017617.5(NOTCH1):c.2148G>A (p.Glu716=)	rs376468003	0.00016
NM_017617.5(NOTCH1):c.2191C>T (p.Arg731Trp)	rs199666126	0.00016
NM_017617.5(NOTCH1):c.2718C>T (p.Thr906=)	rs200243788	0.00016
NM_017617.5(NOTCH1):c.3288G>C (p.Val1096=)	rs374944458	0.00016
NM_017617.5(NOTCH1):c.3511-11C>T	rs201280571	0.00016
NM_017617.5(NOTCH1):c.5385-18C>T	rs370602147	0.00016
NM_000501.4(ELN):c.1675G>A (p.Val559Ile)	rs560081099	0.00015
NM_000501.4(ELN):c.1747+23G>A	rs368791422	0.00015
NM_000501.4(ELN):c.232+3G>A	rs377172364	0.00015
NM_005585.5(SMAD6):c.956C>T (p.Ala319Val)	rs148705603	0.00015
NM_005585.5(SMAD6):c.973G>A (p.Ala325Thr)	rs199822239	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_181486.4(TBX5):c.1381G>A (p.Val461Met)	rs201152128	0.00015
NM_000501.4(ELN):c.*489G>T	rs886062432	0.00014
NM_000501.4(ELN):c.1317C>T (p.Pro439=)	rs201861098	0.00014
NM_017617.5(NOTCH1):c.156C>T (p.Phe52=)	rs536299678	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.3597C>T (p.Leu1199=)	rs150666307	0.00014
NM_017617.5(NOTCH1):c.4905C>T (p.Ala1635=)	rs751446074	0.00014
NM_181486.4(TBX5):c.834T>C (p.Ser278=)	rs142609815	0.00014
NM_000501.4(ELN):c.1339G>A (p.Ala447Thr)	rs139335797	0.00013
NM_000501.4(ELN):c.1358-236G>A	rs529133775	0.00013
NM_005585.5(SMAD6):c.194C>G (p.Pro65Arg)	rs990598927	0.00013
NM_005585.5(SMAD6):c.375C>T (p.Thr125=)	rs767379771	0.00013
NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val)	rs369067940	0.00013
NM_017617.5(NOTCH1):c.19C>T (p.Pro7Ser)	rs1397523469	0.00013
NM_017617.5(NOTCH1):c.851C>T (p.Pro284Leu)	rs376104770	0.00013
NM_000501.4(ELN):c.196+18G>A	rs374473857	0.00012
NM_000501.4(ELN):c.35G>T (p.Gly12Val)	rs367634266	0.00012
NM_000501.4(ELN):c.710G>C (p.Gly237Ala)	rs934014841	0.00012
NM_005585.5(SMAD6):c.253C>T (p.Arg85Cys)	rs1056072996	0.00012
NM_005585.5(SMAD6):c.482C>T (p.Ala161Val)	rs748622672	0.00012
NM_017617.5(NOTCH1):c.1146C>T (p.Asn382=)	rs368665838	0.00012
NM_017617.5(NOTCH1):c.165G>A (p.Pro55=)	rs373793124	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.5676G>A (p.Gly1892=)	rs763584589	0.00012
NM_017617.5(NOTCH1):c.6568C>T (p.Leu2190=)	rs1037034230	0.00012
NM_000501.4(ELN):c.1357+9C>A	rs372800803	0.00011
NM_000501.4(ELN):c.1358-209C>T	rs569004868	0.00011
NM_000501.4(ELN):c.165G>A (p.Ala55=)	rs376512299	0.00011
NM_000501.4(ELN):c.1825C>T (p.Leu609Phe)	rs200133966	0.00011
NM_000501.4(ELN):c.202G>A (p.Gly68Arg)	rs372566075	0.00011
NM_000501.4(ELN):c.717G>A (p.Ala239=)	rs782502253	0.00011
NM_005585.5(SMAD6):c.75C>T (p.Gly25=)	rs755856670	0.00011
NM_005585.5(SMAD6):c.908C>T (p.Thr303Met)	rs146363463	0.00011
NM_005585.5(SMAD6):c.91G>A (p.Gly31Ser)	rs770362322	0.00011
NM_017617.5(NOTCH1):c.1837C>T (p.Arg613Cys)	rs763988265	0.00011
NM_017617.5(NOTCH1):c.5273G>A (p.Arg1758His)	rs373841359	0.00011
NM_017617.5(NOTCH1):c.6057C>T (p.Ala2019=)	rs758702512	0.00011
NM_181486.4(TBX5):c.1151C>T (p.Ala384Val)	rs530882236	0.00011
NM_000501.4(ELN):c.*570G>A	rs565400803	0.00010
NM_000501.4(ELN):c.1043G>A (p.Gly348Glu)	rs186728715	0.00010
NM_000501.4(ELN):c.1149C>T (p.Tyr383=)	rs199621188	0.00010
NM_000501.4(ELN):c.1271G>A (p.Gly424Glu)	rs782725817	0.00010
NM_000501.4(ELN):c.1414+20G>A	rs200995478	0.00010
NM_000501.4(ELN):c.460G>A (p.Val154Met)	rs145669576	0.00010
NM_005585.5(SMAD6):c.141G>A (p.Pro47=)	rs1004603974	0.00010
NM_005585.5(SMAD6):c.277A>T (p.Met93Leu)	rs781686740	0.00010
NM_005585.5(SMAD6):c.610G>A (p.Gly204Ser)	rs746951925	0.00010
NM_017617.5(NOTCH1):c.1295C>T (p.Thr432Met)	rs200562991	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.2636G>A (p.Arg879Gln)	rs368011392	0.00010
NM_017617.5(NOTCH1):c.2969+14G>A	rs112192550	0.00010
NM_017617.5(NOTCH1):c.390G>A (p.Pro130=)	rs61751559	0.00010
NM_017617.5(NOTCH1):c.4372G>A (p.Ala1458Thr)	rs200495793	0.00010
NM_017617.5(NOTCH1):c.4537G>A (p.Gly1513Ser)	rs765844768	0.00010
NM_017617.5(NOTCH1):c.5414T>C (p.Leu1805Pro)	rs201779159	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.6788G>A (p.Arg2263Gln)	rs200521815	0.00010
NM_019055.6(ROBO4):c.1471C>T (p.Arg491Cys)	rs374471211	0.00010
NM_000501.4(ELN):c.*532C>T	rs939778506	0.00009
NM_000501.4(ELN):c.*591C>T	rs782460313	0.00009
NM_000501.4(ELN):c.1918+19T>G	rs557259683	0.00009
NM_000501.4(ELN):c.554C>G (p.Ala185Gly)	rs781956448	0.00009
NM_005585.5(SMAD6):c.1191C>T (p.Pro397=)	rs551875695	0.00009
NM_005585.5(SMAD6):c.405C>T (p.Ala135=)	rs538097406	0.00009
NM_005585.5(SMAD6):c.414C>T (p.Pro138=)	rs1352636701	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.4157C>T (p.Pro1386Leu)	rs367710569	0.00009
NM_017617.5(NOTCH1):c.4296C>T (p.Phe1432=)	rs774697636	0.00009
NM_017617.5(NOTCH1):c.4586+10C>T	rs760225110	0.00009
NM_017617.5(NOTCH1):c.4652G>T (p.Ser1551Ile)	rs774068657	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.527G>A (p.Arg176Gln)	rs375065108	0.00009
NM_017617.5(NOTCH1):c.6083-5C>T	rs199786076	0.00009
NM_019055.6(ROBO4):c.695C>T (p.Thr232Met)	rs150700978	0.00009
NM_181486.4(TBX5):c.1152G>A (p.Ala384=)	rs200073406	0.00009
NM_181486.4(TBX5):c.147+9A>T	rs375693592	0.00009
NM_000501.4(ELN):c.*644G>A	rs759507028	0.00008
NM_000501.4(ELN):c.1358-198G>A	rs192461213	0.00008
NM_000501.4(ELN):c.2051G>A (p.Gly684Asp)	rs150984896	0.00008
NM_000501.4(ELN):c.34G>A (p.Gly12Arg)	rs149127344	0.00008
NM_000501.4(ELN):c.644-8C>T	rs201859539	0.00008
NM_005585.5(SMAD6):c.1297G>A (p.Gly433Ser)	rs373836386	0.00008
NM_005585.5(SMAD6):c.939G>A (p.Pro313=)	rs144403747	0.00008
NM_017617.5(NOTCH1):c.2724C>T (p.Ile908=)	rs61751547	0.00008
NM_017617.5(NOTCH1):c.4313G>A (p.Arg1438His)	rs61751541	0.00008
NM_017617.5(NOTCH1):c.4373C>T (p.Ala1458Val)	rs374352922	0.00008
NM_017617.5(NOTCH1):c.5018+13C>T	rs752508890	0.00008
NM_017617.5(NOTCH1):c.6083-4G>A	rs570242146	0.00008
NM_017617.5(NOTCH1):c.6714C>T (p.Pro2238=)	rs201499253	0.00008
NM_017617.5(NOTCH1):c.7313C>T (p.Pro2438Leu)	rs199777870	0.00008
NM_181486.4(TBX5):c.1233C>G (p.Thr411=)	rs188839350	0.00008
NM_000501.4(ELN):c.1206G>T (p.Gly402=)	rs552147776	0.00007
NM_000501.4(ELN):c.1315+1G>A	rs782568267	0.00007
NM_000501.4(ELN):c.133+11T>C	rs28763980	0.00007
NM_000501.4(ELN):c.1537G>A (p.Val513Ile)	rs372788076	0.00007
NM_000501.4(ELN):c.240C>T (p.Gly80=)	rs138649857	0.00007
NM_000501.4(ELN):c.403G>A (p.Gly135Arg)	rs373650953	0.00007
NM_000501.4(ELN):c.914C>T (p.Ala305Val)	rs782396192	0.00007
NM_005585.5(SMAD6):c.439G>A (p.Gly147Arg)	rs867644316	0.00007
NM_005585.5(SMAD6):c.687C>T (p.Leu229=)	rs531829825	0.00007
NM_005585.5(SMAD6):c.818-11C>T	rs766626508	0.00007
NM_005585.5(SMAD6):c.856G>A (p.Asp286Asn)	rs759918873	0.00007
NM_017617.5(NOTCH1):c.1682C>T (p.Thr561Met)	rs560030759	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.3853G>A (p.Val1285Met)	rs756972680	0.00007
NM_017617.5(NOTCH1):c.4101G>A (p.Pro1367=)	rs374921637	0.00007
NM_017617.5(NOTCH1):c.4307C>T (p.Ala1436Val)	rs371303106	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.4795G>A (p.Val1599Met)	rs543770603	0.00007
NM_017617.5(NOTCH1):c.4809C>T (p.Asn1603=)	rs370523171	0.00007
NM_017617.5(NOTCH1):c.6283C>T (p.Arg2095Cys)	rs780873661	0.00007
NM_017617.5(NOTCH1):c.6583G>A (p.Gly2195Ser)	rs376422513	0.00007
NM_017617.5(NOTCH1):c.7397C>T (p.Thr2466Met)	rs369167555	0.00007
NM_181486.4(TBX5):c.1116G>A (p.Ser372=)	rs763827720	0.00007
NM_181486.4(TBX5):c.1162G>A (p.Glu388Lys)	rs139371720	0.00007
NM_181486.4(TBX5):c.1545C>T (p.Ser515=)	rs186780790	0.00007
NM_000501.4(ELN):c.*629T>C	rs776424755	0.00006
NM_000501.4(ELN):c.1150+1G>A	rs727503030	0.00006
NM_000501.4(ELN):c.1216G>A (p.Gly406Ser)	rs782563418	0.00006
NM_000501.4(ELN):c.1234G>A (p.Gly412Arg)	rs375116795	0.00006
NM_000501.4(ELN):c.1322C>T (p.Ala441Val)	rs200444292	0.00006
NM_000501.4(ELN):c.1358-192C>T	rs185060213	0.00006
NM_000501.4(ELN):c.1543G>A (p.Val515Met)	rs376258672	0.00006
NM_000501.4(ELN):c.1590C>T (p.Ser530=)	rs782526296	0.00006
NM_000501.4(ELN):c.1767C>T (p.Ala589=)	rs117816525	0.00006
NM_000501.4(ELN):c.1875C>T (p.Ala625=)	rs782752342	0.00006
NM_000501.4(ELN):c.2032G>A (p.Gly678Ser)	rs375579231	0.00006
NM_000501.4(ELN):c.2060G>A (p.Gly687Glu)	rs139547471	0.00006
NM_000501.4(ELN):c.483C>T (p.Pro161=)	rs150690195	0.00006
NM_000501.4(ELN):c.659C>T (p.Pro220Leu)	rs201012726	0.00006
NM_000501.4(ELN):c.773C>T (p.Ala258Val)	rs531144748	0.00006
NM_000501.4(ELN):c.886G>A (p.Ala296Thr)	rs782335529	0.00006
NM_005585.5(SMAD6):c.158G>A (p.Gly53Glu)	rs955270050	0.00006
NM_005585.5(SMAD6):c.180C>G (p.Val60=)	rs981335329	0.00006
NM_005585.5(SMAD6):c.278T>C (p.Met93Thr)	rs985309653	0.00006
NM_005585.5(SMAD6):c.648C>G (p.Gly216=)	rs1035549645	0.00006
NM_005585.5(SMAD6):c.81C>T (p.Ser27=)	rs1167279905	0.00006
NM_005585.5(SMAD6):c.93T>C (p.Gly31=)	rs780659575	0.00006
NM_017617.5(NOTCH1):c.1510C>T (p.Arg504Cys)	rs752071569	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.3270C>T (p.Thr1090=)	rs773990513	0.00006
NM_017617.5(NOTCH1):c.3271G>A (p.Gly1091Ser)	rs768095251	0.00006
NM_017617.5(NOTCH1):c.3338C>T (p.Ala1113Val)	rs377351349	0.00006
NM_017617.5(NOTCH1):c.3788G>A (p.Arg1263His)	rs377594681	0.00006
NM_017617.5(NOTCH1):c.404-13C>G	rs766360723	0.00006
NM_017617.5(NOTCH1):c.448G>A (p.Ala150Thr)	rs372660483	0.00006
NM_017617.5(NOTCH1):c.4718C>T (p.Thr1573Met)	rs573864607	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.5776C>T (p.Arg1926Cys)	rs199652954	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.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.7130C>T (p.Pro2377Leu)	rs761839390	0.00006
NM_017617.5(NOTCH1):c.7251G>A (p.Pro2417=)	rs368498380	0.00006
NM_017617.5(NOTCH1):c.7363A>G (p.Thr2455Ala)	rs536167222	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.975C>T (p.Asn325=)	rs746111102	0.00006
NM_019055.6(ROBO4):c.283G>A (p.Ala95Thr)	rs138370967	0.00006
NM_181486.4(TBX5):c.1293C>G (p.Thr431=)	rs143971376	0.00006
NM_181486.4(TBX5):c.1396G>A (p.Val466Met)	rs765443283	0.00006
NM_181486.4(TBX5):c.1476C>T (p.Gly492=)	rs369034176	0.00006
NM_181486.4(TBX5):c.204C>T (p.His68=)	rs375854421	0.00006
NM_181486.4(TBX5):c.786C>T (p.Thr262=)	rs375955080	0.00006
NM_000501.4(ELN):c.1358-186C>T	rs782074494	0.00005
NM_000501.4(ELN):c.145G>A (p.Gly49Arg)	rs144757453	0.00005
NM_000501.4(ELN):c.2032+19C>T	rs782201561	0.00005
NM_000501.4(ELN):c.213G>A (p.Ala71=)	rs202194806	0.00005
NM_000501.4(ELN):c.473C>T (p.Ala158Val)	rs201137255	0.00005
NM_005585.5(SMAD6):c.1137G>A (p.Ser379=)	rs1376483272	0.00005
NM_005585.5(SMAD6):c.841C>G (p.Arg281Gly)	rs200004068	0.00005
NM_005585.5(SMAD6):c.854G>A (p.Arg285His)	rs201098141	0.00005
NM_017617.5(NOTCH1):c.1125A>G (p.Ala375=)	rs371954544	0.00005
NM_017617.5(NOTCH1):c.1664C>T (p.Thr555Met)	rs746796894	0.00005
NM_017617.5(NOTCH1):c.1774C>T (p.Arg592Cys)	rs1472690723	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.2521G>A (p.Gly841Ser)	rs369259434	0.00005
NM_017617.5(NOTCH1):c.2783C>T (p.Thr928Met)	rs764921648	0.00005
NM_017617.5(NOTCH1):c.2908A>G (p.Thr970Ala)	rs201053795	0.00005
NM_017617.5(NOTCH1):c.3326-16A>T	rs374731388	0.00005
NM_017617.5(NOTCH1):c.3553G>A (p.Asp1185Asn)	rs548083258	0.00005
NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His)	rs371068504	0.00005
NM_017617.5(NOTCH1):c.4492A>G (p.Lys1498Glu)	rs745681787	0.00005
NM_017617.5(NOTCH1):c.4793G>A (p.Arg1598His)	rs755124691	0.00005
NM_017617.5(NOTCH1):c.5100C>T (p.Ala1700=)	rs376495459	0.00005
NM_017617.5(NOTCH1):c.5248G>A (p.Val1750Met)	rs368396893	0.00005
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr)	rs567909904	0.00005
NM_017617.5(NOTCH1):c.7016C>A (p.Ala2339Asp)	rs773134608	0.00005
NM_017617.5(NOTCH1):c.7356G>A (p.Ala2452=)	rs781520893	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_181486.4(TBX5):c.1273C>A (p.His425Asn)	rs755152246	0.00005
NM_181486.4(TBX5):c.848C>A (p.Thr283Asn)	rs147077037	0.00005
NM_000501.4(ELN):c.*664G>A	rs952638605	0.00004
NM_000501.4(ELN):c.1063C>G (p.Pro355Ala)	rs782505248	0.00004
NM_000501.4(ELN):c.1287C>T (p.Val429=)	rs200666061	0.00004
NM_000501.4(ELN):c.1348G>A (p.Ala450Thr)	rs782546858	0.00004
NM_000501.4(ELN):c.1358-185G>A	rs782737850	0.00004
NM_000501.4(ELN):c.159A>T (p.Gly53=)	rs200810494	0.00004
NM_000501.4(ELN):c.164-2A>C	rs782096458	0.00004
NM_000501.4(ELN):c.1671C>T (p.Val557=)	rs563533415	0.00004
NM_000501.4(ELN):c.1674C>T (p.Gly558=)	rs182784538	0.00004
NM_000501.4(ELN):c.1747+49G>C	rs201047209	0.00004
NM_000501.4(ELN):c.1859-15G>A	rs369551022	0.00004
NM_000501.4(ELN):c.1872C>T (p.Ala624=)	rs781807182	0.00004
NM_000501.4(ELN):c.18G>A (p.Ala6=)	rs542540015	0.00004
NM_000501.4(ELN):c.1932C>T (p.Ala644=)	rs782238627	0.00004
NM_000501.4(ELN):c.1951G>A (p.Gly651Arg)	rs34852121	0.00004
NM_000501.4(ELN):c.2067C>T (p.Ala689=)	rs782657493	0.00004
NM_000501.4(ELN):c.2077C>T (p.Pro693Ser)	rs369804770	0.00004
NM_000501.4(ELN):c.2086+7G>T	rs782306052	0.00004
NM_000501.4(ELN):c.2132-5T>A	rs539160518	0.00004
NM_000501.4(ELN):c.414T>C (p.Pro138=)	rs782230185	0.00004
NM_000501.4(ELN):c.478T>C (p.Phe160Leu)	rs781857513	0.00004
NM_000501.4(ELN):c.528G>A (p.Lys176=)	rs782412839	0.00004
NM_000501.4(ELN):c.540A>C (p.Pro180=)	rs145778002	0.00004
NM_000501.4(ELN):c.593C>T (p.Pro198Leu)	rs146729533	0.00004
NM_000501.4(ELN):c.643+16G>A	rs199662424	0.00004
NM_000501.4(ELN):c.696C>T (p.Pro232=)	rs148054981	0.00004
NM_000501.4(ELN):c.799G>A (p.Gly267Ser)	rs150092063	0.00004
NM_000501.4(ELN):c.853G>A (p.Val285Met)	rs199709542	0.00004
NM_000501.4(ELN):c.92G>A (p.Gly31Glu)	rs782625771	0.00004
NM_002474.3(MYH11):c.3560C>T (p.Thr1187Met)	rs552818350	0.00004
NM_005585.5(SMAD6):c.1206C>G (p.Ala402=)	rs565415984	0.00004
NM_005585.5(SMAD6):c.1276G>A (p.Val426Ile)	rs376580255	0.00004
NM_005585.5(SMAD6):c.316G>A (p.Asp106Asn)	rs981951560	0.00004
NM_005585.5(SMAD6):c.35G>A (p.Arg12Gln)	rs946785791	0.00004
NM_005585.5(SMAD6):c.715G>A (p.Val239Met)	rs768794005	0.00004
NM_005585.5(SMAD6):c.776T>C (p.Val259Ala)	rs1049275389	0.00004
NM_005585.5(SMAD6):c.853C>T (p.Arg285Cys)	rs749741980	0.00004
NM_005585.5(SMAD6):c.855C>T (p.Arg285=)	rs774721819	0.00004
NM_005585.5(SMAD6):c.859G>A (p.Glu287Lys)	rs570279865	0.00004
NM_005585.5(SMAD6):c.938C>T (p.Pro313Leu)	rs748388661	0.00004
NM_017617.5(NOTCH1):c.1272G>A (p.Glu424=)	rs377342874	0.00004
NM_017617.5(NOTCH1):c.1670-10C>T	rs751747178	0.00004
NM_017617.5(NOTCH1):c.1869C>T (p.Asn623=)	rs376726823	0.00004
NM_017617.5(NOTCH1):c.1903+10C>G	rs375704312	0.00004
NM_017617.5(NOTCH1):c.2002C>G (p.Pro668Ala)	rs780810308	0.00004
NM_017617.5(NOTCH1):c.2576C>T (p.Thr859Met)	rs199505287	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.3121G>A (p.Gly1041Ser)	rs375260339	0.00004
NM_017617.5(NOTCH1):c.3374C>T (p.Ala1125Val)	rs200871631	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.3980A>G (p.Asn1327Ser)	rs751874720	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.4800G>A (p.Leu1600=)	rs761609069	0.00004
NM_017617.5(NOTCH1):c.5017G>A (p.Gly1673Ser)	rs1226514285	0.00004
NM_017617.5(NOTCH1):c.5070G>A (p.Ser1690=)	rs370200858	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.5542C>A (p.Leu1848Met)	rs35652719	0.00004
NM_017617.5(NOTCH1):c.5550C>T (p.Ala1850=)	rs374451515	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.6120T>C (p.Asn2040=)	rs201625763	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.6383C>T (p.Pro2128Leu)	rs770713134	0.00004
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg)	rs761602495	0.00004
NM_017617.5(NOTCH1):c.6577A>G (p.Ser2193Gly)	rs1060502236	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.7386C>T (p.Pro2462=)	rs369470875	0.00004
NM_017617.5(NOTCH1):c.7498C>G (p.His2500Asp)	rs763902589	0.00004
NM_017617.5(NOTCH1):c.7569G>A (p.Ser2523=)	rs534623042	0.00004
NM_019055.6(ROBO4):c.1702C>T (p.Arg568Ter)	rs201492213	0.00004
NM_181486.4(TBX5):c.1425C>G (p.Gly475=)	rs199729532	0.00004
NM_181486.4(TBX5):c.1443C>T (p.Thr481=)	rs137928706	0.00004
NM_181486.4(TBX5):c.1477G>A (p.Val493Met)	rs556197042	0.00004
NM_181486.4(TBX5):c.15C>T (p.Asp5=)	rs767487291	0.00004
NM_181486.4(TBX5):c.576T>C (p.Asn192=)	rs201212120	0.00004
NM_181486.4(TBX5):c.639A>G (p.Ala213=)	rs149274578	0.00004
NM_181486.4(TBX5):c.791G>A (p.Arg264Lys)	rs201071418	0.00004
NM_000138.5(FBN1):c.139G>A (p.Gly47Ser)	rs762400500	0.00003
NM_000501.4(ELN):c.*663C>T	rs886062433	0.00003
NM_000501.4(ELN):c.*794C>T	rs185988110	0.00003
NM_000501.4(ELN):c.1168G>A (p.Gly390Arg)	rs372889752	0.00003
NM_000501.4(ELN):c.1202C>T (p.Ala401Val)	rs782493042	0.00003
NM_000501.4(ELN):c.134-4dup	rs878854451	0.00003
NM_000501.4(ELN):c.134-6C>A	rs368904789	0.00003
NM_000501.4(ELN):c.1358-230G>A	rs550475158	0.00003
NM_000501.4(ELN):c.1404C>T (p.Ala468=)	rs189952915	0.00003
NM_000501.4(ELN):c.1435G>A (p.Val479Met)	rs925528680	0.00003
NM_000501.4(ELN):c.1943G>A (p.Gly648Glu)	rs140085632	0.00003
NM_000501.4(ELN):c.1994-13C>T	rs532271061	0.00003
NM_000501.4(ELN):c.2020G>A (p.Ala674Thr)	rs782535492	0.00003
NM_000501.4(ELN):c.470-5G>A	rs368292481	0.00003
NM_000501.4(ELN):c.470-8C>G	rs781877758	0.00003
NM_000501.4(ELN):c.476G>A (p.Arg159Gln)	rs369045063	0.00003
NM_000501.4(ELN):c.799+10C>T	rs781812932	0.00003
NM_005585.5(SMAD6):c.1000G>C (p.Val334Leu)	rs772926628	0.00003
NM_005585.5(SMAD6):c.1173C>T (p.Ile391=)	rs1215677844	0.00003
NM_005585.5(SMAD6):c.134C>G (p.Pro45Arg)	rs1027280912	0.00003
NM_005585.5(SMAD6):c.1365C>T (p.Ala455=)	rs1351701797	0.00003
NM_005585.5(SMAD6):c.399C>T (p.Asp133=)	rs760472203	0.00003
NM_005585.5(SMAD6):c.573G>C (p.Leu191=)	rs778199794	0.00003
NM_005585.5(SMAD6):c.643C>T (p.Leu215=)	rs1416518211	0.00003
NM_005585.5(SMAD6):c.698C>T (p.Pro233Leu)	rs764453720	0.00003
NM_005585.5(SMAD6):c.814C>T (p.Pro272Ser)	rs781458675	0.00003
NM_014462.3(LSM1):c.231+4A>C	rs775468919	0.00003
NM_017617.5(NOTCH1):c.114A>G (p.Glu38=)	rs375506915	0.00003
NM_017617.5(NOTCH1):c.1262A>G (p.Asn421Ser)	rs928512979	0.00003
NM_017617.5(NOTCH1):c.1446C>T (p.Tyr482=)	rs757373430	0.00003
NM_017617.5(NOTCH1):c.1543G>C (p.Glu515Gln)	rs749085650	0.00003
NM_017617.5(NOTCH1):c.1747G>A (p.Gly583Ser)	rs757066417	0.00003
NM_017617.5(NOTCH1):c.2003C>T (p.Pro668Leu)	rs576030298	0.00003
NM_017617.5(NOTCH1):c.210C>T (p.Asn70=)	rs763414200	0.00003
NM_017617.5(NOTCH1):c.2442G>A (p.Lys814=)	rs544653892	0.00003
NM_017617.5(NOTCH1):c.2458C>T (p.Pro820Ser)	rs1379596542	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.3012G>A (p.Ser1004=)	rs371301397	0.00003
NM_017617.5(NOTCH1):c.3171+12G>A	rs753242532	0.00003
NM_017617.5(NOTCH1):c.3341G>A (p.Arg1114His)	rs777684045	0.00003
NM_017617.5(NOTCH1):c.3405G>A (p.Ala1135=)	rs192914380	0.00003
NM_017617.5(NOTCH1):c.3510+3G>A	rs372739350	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.3664G>A (p.Val1222Met)	rs112900950	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.4013C>T (p.Ala1338Val)	rs1397249771	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.4078G>A (p.Gly1360Ser)	rs769493139	0.00003
NM_017617.5(NOTCH1):c.411G>A (p.Ser137=)	rs560826996	0.00003
NM_017617.5(NOTCH1):c.4315G>A (p.Asp1439Asn)	rs200232299	0.00003
NM_017617.5(NOTCH1):c.4713C>T (p.Ala1571=)	rs377357743	0.00003
NM_017617.5(NOTCH1):c.500C>T (p.Pro167Leu)	rs370951369	0.00003
NM_017617.5(NOTCH1):c.5014C>T (p.Arg1672Cys)	rs745901158	0.00003
NM_017617.5(NOTCH1):c.5103A>G (p.Ala1701=)	rs776610176	0.00003
NM_017617.5(NOTCH1):c.5422G>A (p.Asp1808Asn)	rs571739078	0.00003
NM_017617.5(NOTCH1):c.5733C>T (p.Ser1911=)	rs61751534	0.00003
NM_017617.5(NOTCH1):c.5892G>A (p.Pro1964=)	rs769135138	0.00003
NM_017617.5(NOTCH1):c.6130G>A (p.Ala2044Thr)	rs544856644	0.00003
NM_017617.5(NOTCH1):c.621C>T (p.Arg207=)	rs756164624	0.00003
NM_017617.5(NOTCH1):c.6294C>T (p.Arg2098=)	rs777111928	0.00003
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser)	rs201518848	0.00003
NM_017617.5(NOTCH1):c.6753C>T (p.Ala2251=)	rs542875894	0.00003
NM_017617.5(NOTCH1):c.7017C>T (p.Ala2339=)	rs1342843228	0.00003
NM_017617.5(NOTCH1):c.7115G>A (p.Arg2372Gln)	rs373119531	0.00003
NM_017617.5(NOTCH1):c.7279G>A (p.Gly2427Ser)	rs370722609	0.00003
NM_017617.5(NOTCH1):c.7541_7542del (p.Pro2514fs)	rs763016003	0.00003
NM_019055.6(ROBO4):c.839A>C (p.Tyr280Ser)	rs755747435	0.00003
NM_030777.4(SLC2A10):c.929C>T (p.Ser310Phe)	rs763521707	0.00003
NM_181486.4(TBX5):c.1064G>A (p.Arg355His)	rs145784562	0.00003
NM_181486.4(TBX5):c.1113G>A (p.Glu371=)	rs757158327	0.00003
NM_181486.4(TBX5):c.1123C>T (p.Arg375Trp)	rs377532269	0.00003
NM_181486.4(TBX5):c.1242C>T (p.Thr414=)	rs370133092	0.00003
NM_181486.4(TBX5):c.16G>A (p.Glu6Lys)	rs145365553	0.00003
NM_181486.4(TBX5):c.242+9G>T	rs186666277	0.00003
NM_181486.4(TBX5):c.276G>C (p.Thr92=)	rs773971213	0.00003
NM_181486.4(TBX5):c.293C>T (p.Thr98Met)	rs772844823	0.00003
NM_181486.4(TBX5):c.363-6A>G	rs757819289	0.00003
NM_181486.4(TBX5):c.57A>G (p.Ala19=)	rs567785340	0.00003
NM_181486.4(TBX5):c.895G>A (p.Gly299Ser)	rs201637366	0.00003
NM_000501.4(ELN):c.*251C>T	rs886062430	0.00002
NM_000501.4(ELN):c.*631C>T	rs1168466814	0.00002
NM_000501.4(ELN):c.*997G>T	rs886062434	0.00002
NM_000501.4(ELN):c.1097-3C>T	rs782265101	0.00002
NM_000501.4(ELN):c.1097-8C>G	rs781785100	0.00002
NM_000501.4(ELN):c.113C>G (p.Pro38Arg)	rs781951450	0.00002
NM_000501.4(ELN):c.1282G>A (p.Gly428Arg)	rs200862792	0.00002
NM_000501.4(ELN):c.1288G>A (p.Gly430Arg)	rs374470120	0.00002
NM_000501.4(ELN):c.1299G>A (p.Pro433=)	rs367742656	0.00002
NM_000501.4(ELN):c.133+6G>A	rs1216357938	0.00002
NM_000501.4(ELN):c.1358-232G>C	rs782246342	0.00002
NM_000501.4(ELN):c.1434C>T (p.Gly478=)	rs781926084	0.00002
NM_000501.4(ELN):c.1622-14C>T	rs782637446	0.00002
NM_000501.4(ELN):c.164C>T (p.Ala55Val)	rs1411248717	0.00002
NM_000501.4(ELN):c.1747+21C>T	rs782679593	0.00002
NM_000501.4(ELN):c.1950C>T (p.Leu650=)	rs373342218	0.00002
NM_000501.4(ELN):c.196+13G>C	rs370961040	0.00002
NM_000501.4(ELN):c.20C>T (p.Ala7Val)	rs559210020	0.00002
NM_000501.4(ELN):c.2131+14C>T	rs782790041	0.00002
NM_000501.4(ELN):c.2132-6G>A	rs781831349	0.00002
NM_000501.4(ELN):c.295G>A (p.Ala99Thr)	rs782660886	0.00002
NM_000501.4(ELN):c.367G>A (p.Val123Met)	rs1480312927	0.00002
NM_000501.4(ELN):c.377-5G>A	rs571360232	0.00002
NM_000501.4(ELN):c.549T>G (p.Gly183=)	rs782332803	0.00002
NM_000501.4(ELN):c.683A>G (p.Tyr228Cys)	rs1471237206	0.00002
NM_000501.4(ELN):c.686-17G>A	rs149812011	0.00002
NM_000501.4(ELN):c.800-12C>G	rs370561295	0.00002
NM_000501.4(ELN):c.8G>A (p.Gly3Asp)	rs1198683869	0.00002
NM_005585.5(SMAD6):c.106G>A (p.Asp36Asn)	rs773308777	0.00002
NM_005585.5(SMAD6):c.1348C>T (p.Pro450Ser)	rs369864879	0.00002
NM_005585.5(SMAD6):c.135G>A (p.Pro45=)	rs868172579	0.00002
NM_005585.5(SMAD6):c.1445C>G (p.Thr482Ser)	rs1239470869	0.00002
NM_005585.5(SMAD6):c.1489T>C (p.Ter497Gln)	rs932383465	0.00002
NM_005585.5(SMAD6):c.235G>T (p.Gly79Cys)	rs1318237027	0.00002
NM_005585.5(SMAD6):c.245G>A (p.Arg82Lys)	rs1433506461	0.00002
NM_005585.5(SMAD6):c.257C>T (p.Ala86Val)	rs1235267213	0.00002
NM_005585.5(SMAD6):c.618G>A (p.Val206=)	rs776635009	0.00002
NM_005585.5(SMAD6):c.80G>A (p.Ser27Asn)	rs1448725205	0.00002
NM_005585.5(SMAD6):c.816C>G (p.Pro272=)	rs748073570	0.00002
NM_005585.5(SMAD6):c.817+17G>A	rs770785932	0.00002
NM_005585.5(SMAD6):c.833C>T (p.Pro278Leu)	rs372082813	0.00002
NM_005585.5(SMAD6):c.967C>T (p.Pro323Ser)	rs1292983568	0.00002
NM_006849.4(PDIA2):c.383G>A (p.Arg128His)	rs373590123	0.00002
NM_017617.5(NOTCH1):c.1250C>T (p.Ser417Leu)	rs757631575	0.00002
NM_017617.5(NOTCH1):c.1256-15G>A	rs200086842	0.00002
NM_017617.5(NOTCH1):c.1357G>A (p.Val453Ile)	rs761629787	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.1953C>T (p.Asp651=)	rs752168856	0.00002
NM_017617.5(NOTCH1):c.2068G>A (p.Gly690Arg)	rs764112977	0.00002
NM_017617.5(NOTCH1):c.2112C>T (p.Cys704=)	rs757495549	0.00002
NM_017617.5(NOTCH1):c.2297G>T (p.Gly766Val)	rs374434131	0.00002
NM_017617.5(NOTCH1):c.2917G>A (p.Ala973Thr)	rs200699541	0.00002
NM_017617.5(NOTCH1):c.2937C>T (p.His979=)	rs1406216361	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.3701G>A (p.Arg1234Gln)	rs773926521	0.00002
NM_017617.5(NOTCH1):c.3861C>T (p.Arg1287=)	rs758031388	0.00002
NM_017617.5(NOTCH1):c.4326G>A (p.Pro1442=)	rs376469653	0.00002
NM_017617.5(NOTCH1):c.4348G>A (p.Glu1450Lys)	rs147841035	0.00002
NM_017617.5(NOTCH1):c.4746G>A (p.Pro1582=)	rs886038974	0.00002
NM_017617.5(NOTCH1):c.5023A>G (p.Ile1675Val)	rs375408767	0.00002
NM_017617.5(NOTCH1):c.5069C>T (p.Ser1690Leu)	rs552065719	0.00002
NM_017617.5(NOTCH1):c.5398G>A (p.Ala1800Thr)	rs569203312	0.00002
NM_017617.5(NOTCH1):c.5916C>T (p.Asp1972=)	rs1045892978	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.6228C>T (p.Thr2076=)	rs531156367	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.6749C>T (p.Ala2250Val)	rs777809068	0.00002
NM_017617.5(NOTCH1):c.6814C>T (p.Arg2272Cys)	rs752505638	0.00002
NM_017617.5(NOTCH1):c.6979C>T (p.Arg2327Trp)	rs751007903	0.00002
NM_017617.5(NOTCH1):c.7372C>A (p.Pro2458Thr)	rs752802795	0.00002
NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn)	rs763187824	0.00002
NM_017617.5(NOTCH1):c.823G>A (p.Gly275Ser)	rs371333249	0.00002
NM_181486.4(TBX5):c.1493C>A (p.Ser498Tyr)	rs1474068722	0.00002
NM_181486.4(TBX5):c.465C>T (p.Phe155=)	rs778977800	0.00002
NM_181486.4(TBX5):c.612C>T (p.His204=)	rs200326827	0.00002
NM_181486.4(TBX5):c.669G>A (p.Thr223=)	rs376519728	0.00002
NM_181486.4(TBX5):c.965A>G (p.His322Arg)	rs759009256	0.00002
NM_000501.4(ELN):c.1009C>T (p.Pro337Ser)	rs1340826777	0.00001
NM_000501.4(ELN):c.1027G>C (p.Gly343Arg)	rs781939749	0.00001
NM_000501.4(ELN):c.1050G>C (p.Gly350=)	rs782727999	0.00001
NM_000501.4(ELN):c.1089G>A (p.Ala363=)	rs782204123	0.00001
NM_000501.4(ELN):c.1138G>A (p.Ala380Thr)	rs973649598	0.00001
NM_000501.4(ELN):c.1150G>A (p.Gly384Arg)	rs782359367	0.00001
NM_000501.4(ELN):c.1191C>T (p.Tyr397=)	rs782798160	0.00001
NM_000501.4(ELN):c.119G>T (p.Gly40Val)	rs55951999	0.00001
NM_000501.4(ELN):c.1233C>T (p.Val411=)	rs202052596	0.00001
NM_000501.4(ELN):c.1281C>T (p.Pro427=)	rs376496267	0.00001
NM_000501.4(ELN):c.1300G>A (p.Gly434Arg)	rs782630866	0.00001
NM_000501.4(ELN):c.1316-12G>A	rs782357759	0.00001
NM_000501.4(ELN):c.1316-18T>C	rs782574590	0.00001
NM_000501.4(ELN):c.133+20C>T	rs782637996	0.00001
NM_000501.4(ELN):c.133+5C>T	rs375144839	0.00001
NM_000501.4(ELN):c.134-10C>G	rs782069123	0.00001
NM_000501.4(ELN):c.134-14C>T	rs782028490	0.00001
NM_000501.4(ELN):c.134-16T>C	rs782791376	0.00001
NM_000501.4(ELN):c.1358-235G>A	rs1293346828	0.00001
NM_000501.4(ELN):c.1366A>G (p.Thr456Ala)	rs370603113	0.00001
NM_000501.4(ELN):c.1463G>A (p.Gly488Asp)	rs1383828155	0.00001
NM_000501.4(ELN):c.1470T>C (p.Gly490=)	rs576324025	0.00001
NM_000501.4(ELN):c.1506C>T (p.Gly502=)	rs533649697	0.00001
NM_000501.4(ELN):c.1577-2A>T	rs1230920104	0.00001
NM_000501.4(ELN):c.1577-4T>C	rs1554683264	0.00001
NM_000501.4(ELN):c.1606G>T (p.Ala536Ser)	rs374253638	0.00001
NM_000501.4(ELN):c.1622-6C>T	rs1280128851	0.00001
NM_000501.4(ELN):c.163+13A>G	rs782388951	0.00001
NM_000501.4(ELN):c.1640G>A (p.Gly547Asp)	rs150248865	0.00001
NM_000501.4(ELN):c.1747+14A>G	rs1438687754	0.00001
NM_000501.4(ELN):c.1747+80C>T	rs369548102	0.00001
NM_000501.4(ELN):c.1747+81A>G	rs782668288	0.00001
NM_000501.4(ELN):c.1747+92A>C	rs782216165	0.00001
NM_000501.4(ELN):c.1768G>A (p.Ala590Thr)	rs868932429	0.00001
NM_000501.4(ELN):c.1785T>C (p.Tyr595=)	rs727503033	0.00001
NM_000501.4(ELN):c.1787-8C>G	rs782713818	0.00001
NM_000501.4(ELN):c.1787G>A (p.Gly596Glu)	rs1554685979	0.00001
NM_000501.4(ELN):c.1849G>A (p.Gly617Ser)	rs781904032	0.00001
NM_000501.4(ELN):c.1869C>T (p.Pro623=)	rs530876235	0.00001
NM_000501.4(ELN):c.1876G>A (p.Ala626Thr)	rs781861907	0.00001
NM_000501.4(ELN):c.1879G>A (p.Ala627Thr)	rs552662894	0.00001
NM_000501.4(ELN):c.1916T>C (p.Phe639Ser)	rs782280724	0.00001
NM_000501.4(ELN):c.1956C>T (p.Val652=)	rs1469217967	0.00001
NM_000501.4(ELN):c.1966G>A (p.Gly656Arg)	rs782783288	0.00001
NM_000501.4(ELN):c.1994-2A>C	rs1440841207	0.00001
NM_000501.4(ELN):c.2032+1G>A	rs781859711	0.00001
NM_000501.4(ELN):c.2086+8del	rs782078342	0.00001
NM_000501.4(ELN):c.233-4G>A	rs782410717	0.00001
NM_000501.4(ELN):c.42C>T (p.Leu14=)	rs1554660052	0.00001
NM_000501.4(ELN):c.443G>A (p.Gly148Asp)	rs781952083	0.00001
NM_000501.4(ELN):c.482C>G (p.Pro161Arg)	rs1792196459	0.00001
NM_000501.4(ELN):c.686-2A>G	rs782390271	0.00001
NM_000501.4(ELN):c.689A>T (p.Tyr230Phe)	rs1411516655	0.00001
NM_000501.4(ELN):c.6G>A (p.Ala2=)	rs782540463	0.00001
NM_000501.4(ELN):c.767C>T (p.Ala256Val)	rs782285456	0.00001
NM_000501.4(ELN):c.798C>T (p.Phe266=)	rs552274876	0.00001
NM_000501.4(ELN):c.84G>A (p.Gly28=)	rs782193520	0.00001
NM_000501.4(ELN):c.870T>C (p.Pro290=)	rs1794105324	0.00001
NM_000501.4(ELN):c.885C>T (p.Ile295=)	rs782196025	0.00001
NM_000501.4(ELN):c.898A>T (p.Thr300Ser)	rs766735416	0.00001
NM_000501.4(ELN):c.901C>G (p.Pro301Ala)	rs900409298	0.00001
NM_001077653.2(TBX20):c.533C>T (p.Pro178Leu)	rs760169368	0.00001
NM_004415.4(DSP):c.2550_2552dup (p.Leu851dup)	rs730880373	0.00001
NM_005343.4(HRAS):c.277A>G (p.Ile93Val)	rs587782949	0.00001
NM_005585.5(SMAD6):c.1006T>C (p.Tyr336His)	rs1894552779	0.00001
NM_005585.5(SMAD6):c.1022C>T (p.Thr341Met)	rs151259317	0.00001
NM_005585.5(SMAD6):c.1057G>A (p.Ala353Thr)	rs1315294969	0.00001
NM_005585.5(SMAD6):c.1080A>T (p.Leu360=)	rs773981348	0.00001
NM_005585.5(SMAD6):c.1146A>C (p.Arg382=)	rs755122573	0.00001
NM_005585.5(SMAD6):c.1161C>T (p.Ile387=)	rs777669717	0.00001
NM_005585.5(SMAD6):c.1194C>T (p.Asp398=)	rs777092566	0.00001
NM_005585.5(SMAD6):c.1215C>G (p.Arg405=)	rs899021608	0.00001
NM_005585.5(SMAD6):c.1224C>G (p.His408Gln)	rs1381118550	0.00001
NM_005585.5(SMAD6):c.1225C>T (p.Pro409Ser)	rs757027884	0.00001
NM_005585.5(SMAD6):c.1257G>A (p.Ala419=)	rs771448780	0.00001
NM_005585.5(SMAD6):c.1271C>T (p.Ala424Val)	rs371348775	0.00001
NM_005585.5(SMAD6):c.1294C>G (p.Pro432Ala)	rs758115595	0.00001
NM_005585.5(SMAD6):c.1346C>T (p.Ala449Val)	rs1186486223	0.00001
NM_005585.5(SMAD6):c.1347G>T (p.Ala449=)	rs764124420	0.00001
NM_005585.5(SMAD6):c.1377C>G (p.Tyr459Ter)	rs1290060451	0.00001
NM_005585.5(SMAD6):c.1393C>T (p.Arg465Cys)	rs761888345	0.00001
NM_005585.5(SMAD6):c.1401C>T (p.Ser467=)	rs1303185082	0.00001
NM_005585.5(SMAD6):c.192C>T (p.Ala64=)	rs1242699041	0.00001
NM_005585.5(SMAD6):c.202C>T (p.Pro68Ser)	rs1235974469	0.00001
NM_005585.5(SMAD6):c.25C>T (p.Leu9=)	rs1055162146	0.00001
NM_005585.5(SMAD6):c.267C>T (p.Pro89=)	rs896888252	0.00001
NM_005585.5(SMAD6):c.279G>A (p.Met93Ile)	rs1595756752	0.00001
NM_005585.5(SMAD6):c.286C>T (p.Pro96Ser)	rs1299231742	0.00001
NM_005585.5(SMAD6):c.299C>T (p.Ala100Val)	rs1893029511	0.00001
NM_005585.5(SMAD6):c.34C>T (p.Arg12Ter)	rs1241989233	0.00001
NM_005585.5(SMAD6):c.351C>T (p.Pro117=)	rs770962715	0.00001
NM_005585.5(SMAD6):c.374C>T (p.Thr125Ile)	rs759468399	0.00001
NM_005585.5(SMAD6):c.384C>T (p.Leu128=)	rs752593472	0.00001
NM_005585.5(SMAD6):c.388T>C (p.Ser130Pro)	rs1893032616	0.00001
NM_005585.5(SMAD6):c.411G>C (p.Ala137=)	rs1555434217	0.00001
NM_005585.5(SMAD6):c.434T>C (p.Leu145Pro)	rs1011931265	0.00001
NM_005585.5(SMAD6):c.469C>T (p.Arg157Trp)	rs1239750015	0.00001
NM_005585.5(SMAD6):c.472A>G (p.Ser158Gly)	rs1327929414	0.00001
NM_005585.5(SMAD6):c.477C>G (p.Arg159=)	rs1278854033	0.00001
NM_005585.5(SMAD6):c.484C>T (p.Arg162Cys)	rs1337307419	0.00001
NM_005585.5(SMAD6):c.502C>T (p.Leu168=)	rs1465389619	0.00001
NM_005585.5(SMAD6):c.528G>C (p.Thr176=)	rs1315861259	0.00001
NM_005585.5(SMAD6):c.53T>G (p.Val18Gly)	rs1221430921	0.00001
NM_005585.5(SMAD6):c.598G>A (p.Gly200Ser)	rs1039327779	0.00001
NM_005585.5(SMAD6):c.606G>A (p.Pro202=)	rs892811980	0.00001
NM_005585.5(SMAD6):c.642C>G (p.Arg214=)	rs1392322147	0.00001
NM_005585.5(SMAD6):c.667C>T (p.Gln223Ter)	rs1064793003	0.00001
NM_005585.5(SMAD6):c.696G>A (p.Trp232Ter)	rs759094719	0.00001
NM_005585.5(SMAD6):c.728C>T (p.Pro243Leu)	rs946670694	0.00001
NM_005585.5(SMAD6):c.72A>G (p.Glu24=)	rs922540858	0.00001
NM_005585.5(SMAD6):c.730C>T (p.Leu244=)	rs1042398681	0.00001
NM_005585.5(SMAD6):c.731T>C (p.Leu244Pro)	rs1457962668	0.00001
NM_005585.5(SMAD6):c.765C>T (p.Asp255=)	rs1375800482	0.00001
NM_005585.5(SMAD6):c.768C>G (p.Gly256=)	rs770427556	0.00001
NM_005585.5(SMAD6):c.82G>A (p.Gly28Ser)	rs868114319	0.00001
NM_005585.5(SMAD6):c.851C>T (p.Pro284Leu)	rs150101601	0.00001
NM_005585.5(SMAD6):c.872T>C (p.Leu291Pro)	rs768096418	0.00001
NM_005585.5(SMAD6):c.874+8T>C	rs780559917	0.00001
NM_005585.5(SMAD6):c.875-10C>T	rs1006453758	0.00001
NM_005585.5(SMAD6):c.882C>T (p.Ser294=)	rs769894803	0.00001
NM_005585.5(SMAD6):c.883G>A (p.Asp295Asn)	rs773338089	0.00001
NM_005585.5(SMAD6):c.887C>T (p.Ser296Phe)	rs200374822	0.00001
NM_005585.5(SMAD6):c.891A>G (p.Thr297=)	rs759799681	0.00001
NM_005585.5(SMAD6):c.8G>A (p.Arg3Lys)	rs1337502697	0.00001
NM_005585.5(SMAD6):c.921C>A (p.Asn307Lys)	rs191287350	0.00001
NM_005585.5(SMAD6):c.952+8T>C	rs749303894	0.00001
NM_017617.5(NOTCH1):c.1000G>A (p.Glu334Lys)	rs779061035	0.00001
NM_017617.5(NOTCH1):c.1094G>A (p.Arg365His)	rs775991013	0.00001
NM_017617.5(NOTCH1):c.1099+9C>T	rs1057523772	0.00001
NM_017617.5(NOTCH1):c.1205C>T (p.Ser402Leu)	rs1037236860	0.00001
NM_017617.5(NOTCH1):c.1220C>T (p.Pro407Leu)	rs754529382	0.00001
NM_017617.5(NOTCH1):c.1237G>A (p.Val413Met)	rs373770404	0.00001
NM_017617.5(NOTCH1):c.123T>C (p.Asn41=)	rs1207676067	0.00001
NM_017617.5(NOTCH1):c.1278G>A (p.Ala426=)	rs781782610	0.00001
NM_017617.5(NOTCH1):c.1335G>A (p.Thr445=)	rs564566136	0.00001
NM_017617.5(NOTCH1):c.1407C>T (p.Asp469=)	rs1405995623	0.00001
NM_017617.5(NOTCH1):c.157G>A (p.Val53Met)	rs757497167	0.00001
NM_017617.5(NOTCH1):c.1581C>T (p.Tyr527=)	rs1299929890	0.00001
NM_017617.5(NOTCH1):c.1582G>A (p.Asp528Asn)	rs757988142	0.00001
NM_017617.5(NOTCH1):c.1676C>T (p.Thr559Met)	rs376055493	0.00001
NM_017617.5(NOTCH1):c.1750G>A (p.Val584Ile)	rs763886355	0.00001
NM_017617.5(NOTCH1):c.1760T>A (p.Phe587Tyr)	rs771440130	0.00001
NM_017617.5(NOTCH1):c.1775G>A (p.Arg592His)	rs544117297	0.00001
NM_017617.5(NOTCH1):c.1778C>T (p.Pro593Leu)	rs886039014	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.1924C>G (p.Leu642Val)	rs755740633	0.00001
NM_017617.5(NOTCH1):c.1929T>C (p.Asp643=)	rs527323201	0.00001
NM_017617.5(NOTCH1):c.1972A>G (p.Lys658Glu)	rs1260932753	0.00001
NM_017617.5(NOTCH1):c.1977C>A (p.Ile659=)	rs766577980	0.00001
NM_017617.5(NOTCH1):c.2021T>C (p.Met674Thr)	rs587782970	0.00001
NM_017617.5(NOTCH1):c.2074A>G (p.Thr692Ala)	rs1385815860	0.00001
NM_017617.5(NOTCH1):c.2127C>T (p.His709=)	rs755898711	0.00001
NM_017617.5(NOTCH1):c.2128G>A (p.Asp710Asn)	rs950236535	0.00001
NM_017617.5(NOTCH1):c.2175C>T (p.Cys725=)	rs770313470	0.00001
NM_017617.5(NOTCH1):c.2207+5G>A	rs1214619547	0.00001
NM_017617.5(NOTCH1):c.244G>A (p.Val82Met)	rs571831870	0.00001
NM_017617.5(NOTCH1):c.2510C>G (p.Pro837Arg)	rs777663026	0.00001
NM_017617.5(NOTCH1):c.2605G>A (p.Asp869Asn)	rs1420968156	0.00001
NM_017617.5(NOTCH1):c.2644G>A (p.Ala882Thr)	rs767886377	0.00001
NM_017617.5(NOTCH1):c.2735G>A (p.Arg912Gln)	rs773185855	0.00001
NM_017617.5(NOTCH1):c.2745G>A (p.Pro915=)	rs766331471	0.00001
NM_017617.5(NOTCH1):c.2753A>G (p.Asn918Ser)	rs367586502	0.00001
NM_017617.5(NOTCH1):c.2882C>T (p.Thr961Met)	rs377343669	0.00001
NM_017617.5(NOTCH1):c.2916C>T (p.Pro972=)	rs754724517	0.00001
NM_017617.5(NOTCH1):c.3095A>G (p.His1032Arg)	rs1397562033	0.00001
NM_017617.5(NOTCH1):c.3211G>A (p.Gly1071Ser)	rs587778566	0.00001
NM_017617.5(NOTCH1):c.3350A>G (p.Gln1117Arg)	rs764816819	0.00001
NM_017617.5(NOTCH1):c.3404C>T (p.Ala1135Val)	rs370300490	0.00001
NM_017617.5(NOTCH1):c.3441C>T (p.Asp1147=)	rs377488165	0.00001
NM_017617.5(NOTCH1):c.3482C>T (p.Thr1161Met)	rs769903954	0.00001
NM_017617.5(NOTCH1):c.351C>T (p.Cys117=)	rs768642611	0.00001
NM_017617.5(NOTCH1):c.3569A>G (p.His1190Arg)	rs775438678	0.00001
NM_017617.5(NOTCH1):c.3631C>T (p.Arg1211Trp)	rs766644919	0.00001
NM_017617.5(NOTCH1):c.3632G>A (p.Arg1211Gln)	rs756362905	0.00001
NM_017617.5(NOTCH1):c.3643+10G>A	rs1159458812	0.00001
NM_017617.5(NOTCH1):c.3663C>T (p.Asn1221=)	rs780527525	0.00001
NM_017617.5(NOTCH1):c.3684C>T (p.Pro1228=)	rs753711100	0.00001
NM_017617.5(NOTCH1):c.3694G>A (p.Val1232Met)	rs750169914	0.00001
NM_017617.5(NOTCH1):c.3723C>T (p.Asn1241=)	rs369637862	0.00001
NM_017617.5(NOTCH1):c.3908G>A (p.Arg1303His)	rs768775024	0.00001
NM_017617.5(NOTCH1):c.3954T>A (p.Asn1318Lys)	rs754634957	0.00001
NM_017617.5(NOTCH1):c.3988C>T (p.Arg1330Cys)	rs1249540119	0.00001
NM_017617.5(NOTCH1):c.3991G>A (p.Gly1331Arg)	rs769908800	0.00001
NM_017617.5(NOTCH1):c.4010C>G (p.Pro1337Arg)	rs1043832212	0.00001
NM_017617.5(NOTCH1):c.4024G>A (p.Gly1342Ser)	rs748933222	0.00001
NM_017617.5(NOTCH1):c.4066C>T (p.Arg1356Cys)	rs587778567	0.00001
NM_017617.5(NOTCH1):c.408A>G (p.Lys136=)	rs769259782	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.4309G>A (p.Gly1437Arg)	rs780500109	0.00001
NM_017617.5(NOTCH1):c.4410C>T (p.His1470=)	rs750183248	0.00001
NM_017617.5(NOTCH1):c.4428C>T (p.Gly1476=)	rs765751888	0.00001
NM_017617.5(NOTCH1):c.4451A>G (p.Asn1484Ser)	rs759828439	0.00001
NM_017617.5(NOTCH1):c.4472C>T (p.Thr1491Met)	rs369915496	0.00001
NM_017617.5(NOTCH1):c.452A>G (p.Asn151Ser)	rs766362765	0.00001
NM_017617.5(NOTCH1):c.4568G>A (p.Arg1523His)	rs367589813	0.00001
NM_017617.5(NOTCH1):c.4571C>T (p.Ala1524Val)	rs774374213	0.00001
NM_017617.5(NOTCH1):c.4588C>T (p.Pro1530Ser)	rs750808945	0.00001
NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val)	rs748862853	0.00001
NM_017617.5(NOTCH1):c.4710G>A (p.Ala1570=)	rs773978978	0.00001
NM_017617.5(NOTCH1):c.4717A>G (p.Thr1573Ala)	rs762492041	0.00001
NM_017617.5(NOTCH1):c.4719G>A (p.Thr1573=)	rs775105774	0.00001
NM_017617.5(NOTCH1):c.4742C>T (p.Pro1581Leu)	rs746431035	0.00001
NM_017617.5(NOTCH1):c.4865G>A (p.Arg1622His)	rs778271353	0.00001
NM_017617.5(NOTCH1):c.4880G>A (p.Arg1627His)	rs946083212	0.00001
NM_017617.5(NOTCH1):c.4952C>T (p.Ser1651Leu)	rs1243453790	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.5168-5C>T	rs757370134	0.00001
NM_017617.5(NOTCH1):c.5184G>A (p.Pro1728=)	rs760548371	0.00001
NM_017617.5(NOTCH1):c.5284C>T (p.Arg1762Trp)	rs1356199208	0.00001
NM_017617.5(NOTCH1):c.5413C>T (p.Leu1805Phe)	rs775497405	0.00001
NM_017617.5(NOTCH1):c.5452C>G (p.Leu1818Val)	rs1064796983	0.00001
NM_017617.5(NOTCH1):c.5492T>C (p.Leu1831Pro)	rs1085307869	0.00001
NM_017617.5(NOTCH1):c.5495C>G (p.Pro1832Arg)	rs1425070721	0.00001
NM_017617.5(NOTCH1):c.5560C>T (p.Arg1854Cys)	rs376689092	0.00001
NM_017617.5(NOTCH1):c.5572A>C (p.Met1858Leu)	rs779337715	0.00001
NM_017617.5(NOTCH1):c.5595T>A (p.Gly1865=)	rs767493892	0.00001
NM_017617.5(NOTCH1):c.559G>A (p.Gly187Arg)	rs750295442	0.00001
NM_017617.5(NOTCH1):c.5674G>A (p.Gly1892Arg)	rs761427888	0.00001
NM_017617.5(NOTCH1):c.5690C>T (p.Thr1897Met)	rs746237272	0.00001
NM_017617.5(NOTCH1):c.5784C>T (p.Gly1928=)	rs773571672	0.00001
NM_017617.5(NOTCH1):c.5805C>T (p.Ala1935=)	rs774693459	0.00001
NM_017617.5(NOTCH1):c.581C>T (p.Thr194Ile)	rs760005580	0.00001
NM_017617.5(NOTCH1):c.5972G>A (p.Arg1991His)	rs1371022203	0.00001
NM_017617.5(NOTCH1):c.5981A>G (p.Asp1994Gly)	rs1454512890	0.00001
NM_017617.5(NOTCH1):c.6058G>A (p.Asp2020Asn)	rs752928106	0.00001
NM_017617.5(NOTCH1):c.6204C>T (p.Ala2068=)	rs767118276	0.00001
NM_017617.5(NOTCH1):c.6223G>A (p.Glu2075Lys)	rs549258808	0.00001
NM_017617.5(NOTCH1):c.6260G>A (p.Arg2087Gln)	rs768543030	0.00001
NM_017617.5(NOTCH1):c.632C>G (p.Thr211Ser)	rs1401319182	0.00001
NM_017617.5(NOTCH1):c.6408G>A (p.Ser2136=)	rs933773128	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.6582C>T (p.Ser2194=)	rs200853719	0.00001
NM_017617.5(NOTCH1):c.6593C>T (p.Ser2198Leu)	rs761562076	0.00001
NM_017617.5(NOTCH1):c.6743A>C (p.Asn2248Thr)	rs1554826464	0.00001
NM_017617.5(NOTCH1):c.6745G>A (p.Val2249Met)	rs369457922	0.00001
NM_017617.5(NOTCH1):c.674C>G (p.Ser225Trp)	rs553542677	0.00001
NM_017617.5(NOTCH1):c.6781G>T (p.Gly2261Cys)	rs768817065	0.00001
NM_017617.5(NOTCH1):c.6789G>C (p.Arg2263=)	rs1367699274	0.00001
NM_017617.5(NOTCH1):c.687C>T (p.Asn229=)	rs535217359	0.00001
NM_017617.5(NOTCH1):c.6895G>A (p.Gly2299Ser)	rs1020747496	0.00001
NM_017617.5(NOTCH1):c.7033G>A (p.Gly2345Ser)	rs1325758824	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.707C>T (p.Thr236Met)	rs537766290	0.00001
NM_017617.5(NOTCH1):c.7128G>T (p.Gln2376His)	rs369935287	0.00001
NM_017617.5(NOTCH1):c.7138G>A (p.Val2380Met)	rs769693988	0.00001
NM_017617.5(NOTCH1):c.7150C>G (p.Gln2384Glu)	rs375119074	0.00001
NM_017617.5(NOTCH1):c.7157A>G (p.Gln2386Arg)	rs746658493	0.00001
NM_017617.5(NOTCH1):c.7189C>T (p.Leu2397=)	rs374789141	0.00001
NM_017617.5(NOTCH1):c.7291C>T (p.Arg2431Trp)	rs758410389	0.00001
NM_017617.5(NOTCH1):c.743-14C>T	rs536768165	0.00001
NM_017617.5(NOTCH1):c.751G>A (p.Gly251Ser)	rs755667439	0.00001
NM_017617.5(NOTCH1):c.7545G>T (p.Glu2515Asp)	rs1365732147	0.00001
NM_017617.5(NOTCH1):c.7568C>T (p.Ser2523Leu)	rs1554826328	0.00001
NM_017617.5(NOTCH1):c.7642G>A (p.Ala2548Thr)	rs761156723	0.00001
NM_017617.5(NOTCH1):c.826G>A (p.Val276Met)	rs369721921	0.00001
NM_017617.5(NOTCH1):c.949G>A (p.Gly317Ser)	rs749696049	0.00001
NM_019055.6(ROBO4):c.1864G>C (p.Asp622His)	rs138111911	0.00001
NM_181486.4(TBX5):c.1084C>G (p.Gln362Glu)	rs765204502	0.00001
NM_181486.4(TBX5):c.1124G>A (p.Arg375Gln)	rs1486871388	0.00001
NM_181486.4(TBX5):c.1199C>T (p.Thr400Met)	rs759766836	0.00001
NM_181486.4(TBX5):c.1208G>A (p.Ser403Asn)	rs773568096	0.00001
NM_181486.4(TBX5):c.125C>T (p.Pro42Leu)	rs759976245	0.00001
NM_181486.4(TBX5):c.1289T>C (p.Phe430Ser)	rs1396124456	0.00001
NM_181486.4(TBX5):c.1302C>T (p.Pro434=)	rs1231034401	0.00001
NM_181486.4(TBX5):c.1313G>A (p.Arg438Gln)	rs557758851	0.00001
NM_181486.4(TBX5):c.1322G>A (p.Gly441Asp)	rs1203543672	0.00001
NM_181486.4(TBX5):c.1343C>T (p.Pro448Leu)	rs772790458	0.00001
NM_181486.4(TBX5):c.1348C>G (p.Leu450Val)	rs1243477560	0.00001
NM_181486.4(TBX5):c.1380C>T (p.Ser460=)	rs575162861	0.00001
NM_181486.4(TBX5):c.1413G>A (p.Gly471=)	rs764756835	0.00001
NM_181486.4(TBX5):c.1449G>A (p.Gln483=)	rs117965596	0.00001
NM_181486.4(TBX5):c.322C>T (p.Pro108Ser)	rs376621016	0.00001
NM_181486.4(TBX5):c.327C>T (p.Ala109=)	rs749667596	0.00001
NM_181486.4(TBX5):c.456C>T (p.Leu152=)	rs775748269	0.00001
NM_181486.4(TBX5):c.54C>A (p.Asp18Glu)	rs1479545982	0.00001
NM_181486.4(TBX5):c.579A>G (p.Gly193=)	rs967802452	0.00001
NM_181486.4(TBX5):c.664-14C>T	rs751285432	0.00001
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln)	rs104894378	0.00001
NM_181486.4(TBX5):c.729G>T (p.Glu243Asp)	rs186183947	0.00001
NM_181486.4(TBX5):c.732G>T (p.Leu244=)	rs769541948	0.00001
NM_181486.4(TBX5):c.768C>T (p.Pro256=)	rs370805715	0.00001
NM_181486.4(TBX5):c.769G>A (p.Val257Met)	rs200382742	0.00001
NM_181486.4(TBX5):c.781A>T (p.Ser261Cys)	rs377625550	0.00001
NM_181486.4(TBX5):c.902C>G (p.Ser301Cys)	rs973621936	0.00001
NM_181486.4(TBX5):c.950A>G (p.His317Arg)	rs1869524074	0.00001
46;XY;inv(6)(p22q13)dn
46;XY;t(1;5)(p35.3;q31.3)dn
ELN, 100-KB DEL
GRCh37/hg19 11p11.2(chr11:47997461-48142707)x3
GRCh37/hg19 13q22.1(chr13:74152544-74283131)
GRCh37/hg19 15q22.31-22.33(chr15:66825594-67400490)
GRCh37/hg19 16p13.11-12.3(chr16:16633361-16688008)
GRCh37/hg19 19p12(chr19:20834979-20987550)
GRCh37/hg19 19p13.2(chr19:8213468-8227432)
GRCh37/hg19 1q42.13(chr1:228297613-228703236)
GRCh37/hg19 22q11.21(chr22:18844632-19008108)
GRCh37/hg19 7p14.3-14.2(chr7:34920075-35212065)
GRCh37/hg19 7q11.23(chr7:73475600-73478833)x1
NC_000007.13:g.(?_73150889)_(73604636_?)del
NC_000007.13:g.(?_73442119)_(73484237_?)del
NC_000007.13:g.(?_73442498)_(73483050_?)del
NC_000007.13:g.(?_73442518)_(73449764_?)del
NC_000007.13:g.(?_73442518)_(73475489_?)dup
NC_000007.13:g.(?_73442518)_(73483030_?)del
NC_000007.13:g.(?_73442518)_(73483030_?)dup
NC_000007.13:g.(?_73461985)_(73483030_?)del
NC_000007.13:g.(?_73471702)_(73483040_?)del
NC_000007.13:g.(?_73477473)_(73478035_?)del
NC_000007.13:g.(?_73480004)_(73481126_?)del
NC_000007.13:g.(?_73482987)_(73484237_?)del
NC_000007.14:g.(74030000_74032000)_(74062117_74062163)del
NC_000007.14:g.(?_74028168)_(74028289_?)del
NC_000007.14:g.(?_74028178)_(74068710_?)del
NC_000007.14:g.(?_74035344)_(74068720_?)del
NC_000007.14:g.(?_74068637)_(74068720_?)del
NC_000007.14:g.74043883_74043897del
NC_000012.11:g.(?_114793317)_(114841723_?)del
NC_000012.11:g.(?_114793327)_(114793921_?)del
NC_000012.11:g.(?_114793337)_(114793931_?)dup
NC_000012.11:g.(?_114793337)_(114837457_?)del
NC_000012.11:g.(?_114803950)_(114804216_?)dup
NC_000012.11:g.(?_114803950)_(114823392_?)dup
NC_000012.11:g.(?_114823261)_(114823392_?)del
NC_000012.11:g.(?_114837390)_(114846189_?)del
NC_000012.12:g.(?_114394721)_(114394913_?)del
NC_000012.12:g.(?_114401806)_(114401940_?)del
NC_000012.12:g.(?_114401816)_(114401930_?)del
NC_000015.10:g.(?_66703239)_(67066380_?)del
NC_012920.1:m.8420_8421insATA	rs1569484208
NC_012920.1:m.8751_8752insAAA	rs1569484234
NC_012920.1:m.8950G>A	rs1556423574
NM_000093.5(COL5A1):c.514G>T (p.Val172Phe)	rs150147262
NM_000501.2(ELN):c.(?_-60)_(*57_?)del
NM_000501.2(ELN):c.1153delG	rs727503031
NM_000501.3(ELN):c.-70G>C	rs537200597
NM_000501.4(ELN):c.*102C>T	rs1464325009
NM_000501.4(ELN):c.*1062dup	rs574934142
NM_000501.4(ELN):c.*1145dup	rs886062436
NM_000501.4(ELN):c.*171C>T	rs781941957
NM_000501.4(ELN):c.*264C>A	rs1309771565
NM_000501.4(ELN):c.*358C>T	rs1489252176
NM_000501.4(ELN):c.*458C>T	rs886062431
NM_000501.4(ELN):c.*578T>C	rs1798608245
NM_000501.4(ELN):c.*636G>A	rs533779578
NM_000501.4(ELN):c.*659G>C	rs8326
NM_000501.4(ELN):c.1020C>T (p.Gly340=)	rs782012004
NM_000501.4(ELN):c.1021G>T (p.Val341Phe)	rs190758549
NM_000501.4(ELN):c.1024C>G (p.Pro342Ala)
NM_000501.4(ELN):c.1027G>A (p.Gly343Ser)	rs781939749
NM_000501.4(ELN):c.1028G>A (p.Gly343Asp)
NM_000501.4(ELN):c.1033G>A (p.Gly345Ser)	rs2131923109
NM_000501.4(ELN):c.1034_1087dup (p.Ala362_Ala363insGlyValProGlyAlaGlyIleProValValProGlyAlaGlyIleProGlyAla)
NM_000501.4(ELN):c.1036G>A (p.Val346Ile)
NM_000501.4(ELN):c.1040del (p.Pro347fs)	rs1563826213
NM_000501.4(ELN):c.1041A>T (p.Pro347=)
NM_000501.4(ELN):c.1054C>G (p.Pro352Ala)
NM_000501.4(ELN):c.1069_1091del (p.Ala357fs)
NM_000501.4(ELN):c.1073_1087del (p.Gly358_Ala362del)
NM_000501.4(ELN):c.1075_1082dup (p.Ala362fs)	rs2131925210
NM_000501.4(ELN):c.1084G>C (p.Ala362Pro)
NM_000501.4(ELN):c.1086T>C (p.Ala362=)
NM_000501.4(ELN):c.1088C>T (p.Ala363Val)
NM_000501.4(ELN):c.1096+12TG[15]
NM_000501.4(ELN):c.1096+12TG[16]	rs10579871
NM_000501.4(ELN):c.1096+12TG[17]	rs10579871
NM_000501.4(ELN):c.1096+12TG[18]	rs10579871
NM_000501.4(ELN):c.1096+12TG[20]	rs10579871
NM_000501.4(ELN):c.1096+12TG[21]	rs10579871
NM_000501.4(ELN):c.1096+12TG[22]	rs10579871
NM_000501.4(ELN):c.1096+12TG[23]
NM_000501.4(ELN):c.1096+12TG[24]	rs10579871
NM_000501.4(ELN):c.1096+12TG[25]
NM_000501.4(ELN):c.1096+12TG[8]	rs10579871
NM_000501.4(ELN):c.1096+9G>C	rs1554677524
NM_000501.4(ELN):c.1097-1G>A	rs727503029
NM_000501.4(ELN):c.1101del (p.Val368fs)	rs863223520
NM_000501.4(ELN):c.1111del (p.Glu371fs)
NM_000501.4(ELN):c.1113dup (p.Ala372fs)	rs730880355
NM_000501.4(ELN):c.1131T>C (p.Ala377=)
NM_000501.4(ELN):c.1132G>A (p.Ala378Thr)
NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter)	rs199621188
NM_000501.4(ELN):c.114T>C (p.Pro38=)	rs782104032
NM_000501.4(ELN):c.1150+17C>G
NM_000501.4(ELN):c.1167C>T (p.Val389=)
NM_000501.4(ELN):c.1168G>T (p.Gly390Ter)	rs372889752
NM_000501.4(ELN):c.1170A>G (p.Gly390=)	rs1060504936
NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del)	rs781838239
NM_000501.4(ELN):c.117A>T (p.Gly39=)
NM_000501.4(ELN):c.1185T>G (p.Pro395=)
NM_000501.4(ELN):c.1190dup (p.Tyr397Ter)	rs1795205877
NM_000501.4(ELN):c.1191_1199del (p.Tyr397_Gly400delinsTer)	rs2132059492
NM_000501.4(ELN):c.1191del (p.Thr396_Tyr397insTer)
NM_000501.4(ELN):c.1192G>T (p.Gly398Trp)	rs2229427
NM_000501.4(ELN):c.1194G>A (p.Gly398=)
NM_000501.4(ELN):c.1205G>A (p.Gly402Glu)
NM_000501.4(ELN):c.1208del (p.Gly403fs)	rs727504433
NM_000501.4(ELN):c.1215C>T (p.Pro405=)
NM_000501.4(ELN):c.1217dup (p.Phe407fs)
NM_000501.4(ELN):c.1227C>A (p.Val409=)
NM_000501.4(ELN):c.1227del (p.Gly410fs)	rs1563836689
NM_000501.4(ELN):c.1237G>A (p.Gly413Ser)
NM_000501.4(ELN):c.1238G>C (p.Gly413Ala)
NM_000501.4(ELN):c.1245dup (p.Gly416fs)	rs1795220933
NM_000501.4(ELN):c.1251C>T (p.Val417=)	rs782315685
NM_000501.4(ELN):c.1252G>C (p.Ala418Pro)	rs142438174
NM_000501.4(ELN):c.1263_1264inv (p.Gly422Ser)
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser)	rs2071307
NM_000501.4(ELN):c.1264G>C (p.Gly422Arg)	rs2071307
NM_000501.4(ELN):c.1269C>G (p.Val423=)	rs61734583
NM_000501.4(ELN):c.1269C>T (p.Val423=)	rs61734583
NM_000501.4(ELN):c.1270G>A (p.Gly424Arg)
NM_000501.4(ELN):c.1274G>A (p.Gly425Asp)	rs1795231067
NM_000501.4(ELN):c.1282G>T (p.Gly428Ter)	rs200862792
NM_000501.4(ELN):c.1283G>C (p.Gly428Ala)	rs1795235239
NM_000501.4(ELN):c.1292G>T (p.Gly431Val)
NM_000501.4(ELN):c.1292del (p.Gly431fs)
NM_000501.4(ELN):c.1298C>T (p.Pro433Leu)
NM_000501.4(ELN):c.1303G>A (p.Val435Ile)
NM_000501.4(ELN):c.1315+17_1315+18delinsTT
NM_000501.4(ELN):c.1315C>T (p.Pro439Ser)
NM_000501.4(ELN):c.1316-13C>T
NM_000501.4(ELN):c.131del (p.Pro44fs)	rs727503023
NM_000501.4(ELN):c.1321G>A (p.Ala441Thr)
NM_000501.4(ELN):c.1324C>G (p.Gln442Glu)
NM_000501.4(ELN):c.1324C>T (p.Gln442Ter)	rs137854452
NM_000501.4(ELN):c.133+10A>G
NM_000501.4(ELN):c.133+16C>A	rs144223231
NM_000501.4(ELN):c.133+16C>T	rs144223231
NM_000501.4(ELN):c.134-19T>C	rs535249280
NM_000501.4(ELN):c.134-5C>A	rs202142516
NM_000501.4(ELN):c.134-5C>G	rs202142516
NM_000501.4(ELN):c.134-5C>T
NM_000501.4(ELN):c.134-5dup
NM_000501.4(ELN):c.134-6C>G	rs368904789
NM_000501.4(ELN):c.134-7C>A	rs782721415
NM_000501.4(ELN):c.134-7C>T
NM_000501.4(ELN):c.134G>C (p.Gly45Ala)
NM_000501.4(ELN):c.1351A>T (p.Lys451Ter)	rs2132079396
NM_000501.4(ELN):c.1356C>T (p.Tyr452=)
NM_000501.4(ELN):c.1357+1G>A
NM_000501.4(ELN):c.1358-18T>A
NM_000501.4(ELN):c.1358-191G>A
NM_000501.4(ELN):c.1358-196G>A
NM_000501.4(ELN):c.1358-208G>A
NM_000501.4(ELN):c.1358-216C>A
NM_000501.4(ELN):c.1358-218T>G
NM_000501.4(ELN):c.1358-241G>A	rs1554680844
NM_000501.4(ELN):c.1358-244G>A
NM_000501.4(ELN):c.1358-261G>A
NM_000501.4(ELN):c.1358-262C>T
NM_000501.4(ELN):c.1358-276A>G
NM_000501.4(ELN):c.1358-30_1358-19del
NM_000501.4(ELN):c.1372G>A (p.Ala458Thr)
NM_000501.4(ELN):c.1373C>T (p.Ala458Val)	rs149117932
NM_000501.4(ELN):c.1378G>A (p.Ala460Thr)
NM_000501.4(ELN):c.1383_1394del (p.462AKAA[1])
NM_000501.4(ELN):c.1385C>A (p.Ala462Asp)
NM_000501.4(ELN):c.138T>C (p.Ala46=)
NM_000501.4(ELN):c.1393dup (p.Ala465fs)	rs2132135741
NM_000501.4(ELN):c.1395C>T (p.Ala465=)
NM_000501.4(ELN):c.1396G>A (p.Ala466Thr)
NM_000501.4(ELN):c.1396_1407dup (p.Ala469_Gln470insAlaLysAlaAla)
NM_000501.4(ELN):c.1399A>G (p.Lys467Glu)	rs1583924554
NM_000501.4(ELN):c.1402G>A (p.Ala468Thr)
NM_000501.4(ELN):c.1405G>A (p.Ala469Thr)
NM_000501.4(ELN):c.1407C>A (p.Ala469=)
NM_000501.4(ELN):c.140G>C (p.Gly47Ala)	rs1554665826
NM_000501.4(ELN):c.1414+11C>T
NM_000501.4(ELN):c.1414+11dup	rs782491657
NM_000501.4(ELN):c.1414+16C>T
NM_000501.4(ELN):c.1414+1G>C
NM_000501.4(ELN):c.1414+20G>T
NM_000501.4(ELN):c.1414+9C>T
NM_000501.4(ELN):c.1415-16C>T
NM_000501.4(ELN):c.1431C>T (p.Val477=)	rs782141278
NM_000501.4(ELN):c.1432G>A (p.Gly478Ser)
NM_000501.4(ELN):c.1434_1469del (p.479VAPGVG[1])
NM_000501.4(ELN):c.1446_1463del (p.479VAPGVG[2])	rs1563852008
NM_000501.4(ELN):c.144C>T (p.Leu48=)
NM_000501.4(ELN):c.1451G>A (p.Gly484Asp)
NM_000501.4(ELN):c.1452_1453insA (p.Val485fs)	rs2132288547
NM_000501.4(ELN):c.1453_1488del (p.479VAPGVG[1])	rs782202364
NM_000501.4(ELN):c.1459C>A (p.Pro487Thr)
NM_000501.4(ELN):c.1464_1517del (p.Leu497_Gly514del)	rs1563852165
NM_000501.4(ELN):c.1469G>C (p.Gly490Ala)	rs1554682884
NM_000501.4(ELN):c.1482del (p.Val495fs)	rs1583959262
NM_000501.4(ELN):c.1484T>C (p.Val495Ala)
NM_000501.4(ELN):c.1488_1523del (p.Leu497_Gly508del)	rs782284755
NM_000501.4(ELN):c.14C>G (p.Thr5Arg)
NM_000501.4(ELN):c.1507G>T (p.Val503Leu)	rs41523046
NM_000501.4(ELN):c.1509G>T (p.Val503=)
NM_000501.4(ELN):c.1515_1550del (p.501VGVAPG[1])	rs782225994
NM_000501.4(ELN):c.1518_1535dup (p.Gly518_Ile519insValGlyValAlaProGly)
NM_000501.4(ELN):c.1524T>C (p.Gly508=)
NM_000501.4(ELN):c.1528G>T (p.Ala510Ser)
NM_000501.4(ELN):c.152T>C (p.Leu51Pro)
NM_000501.4(ELN):c.1532C>T (p.Pro511Leu)
NM_000501.4(ELN):c.1536C>T (p.Gly512=)
NM_000501.4(ELN):c.1539del (p.Gly514fs)
NM_000501.4(ELN):c.1542C>T (p.Gly514=)
NM_000501.4(ELN):c.1559G>A (p.Gly520Asp)
NM_000501.4(ELN):c.155G>A (p.Gly52Glu)
NM_000501.4(ELN):c.1564G>C (p.Gly522Arg)
NM_000501.4(ELN):c.1573G>A (p.Ala525Thr)
NM_000501.4(ELN):c.1576+10A>G
NM_000501.4(ELN):c.1576+1G>A	rs782674700
NM_000501.4(ELN):c.1576+2T>A
NM_000501.4(ELN):c.1576+6T>G
NM_000501.4(ELN):c.1576+8T>C
NM_000501.4(ELN):c.1577-9C>G
NM_000501.4(ELN):c.158G>A (p.Gly53Glu)
NM_000501.4(ELN):c.1591G>A (p.Ala531Thr)	rs137987089
NM_000501.4(ELN):c.1591_1592delinsTT (p.Ala531Phe)	rs863223529
NM_000501.4(ELN):c.15G>A (p.Thr5=)
NM_000501.4(ELN):c.1621+11C>T
NM_000501.4(ELN):c.1621+1G>A	rs782279081
NM_000501.4(ELN):c.1621C>T (p.Arg541Ter)	rs137854453
NM_000501.4(ELN):c.163+2T>A
NM_000501.4(ELN):c.163+2T>C	rs1584494326
NM_000501.4(ELN):c.163+3G>A
NM_000501.4(ELN):c.1648_1674del (p.Ile550_Gly558del)
NM_000501.4(ELN):c.1654G>T (p.Gly552Ter)
NM_000501.4(ELN):c.1668T>C (p.Gly556=)
NM_000501.4(ELN):c.166del (p.Leu56fs)	rs2131266202
NM_000501.4(ELN):c.1670_1696del (p.Val557_Gly565del)
NM_000501.4(ELN):c.1670_1696dup (p.Gly565_Ala566insValGlyValProGlyLeuGlyValGly)
NM_000501.4(ELN):c.1679del (p.Pro560fs)	rs2132320442
NM_000501.4(ELN):c.1683ACTTGGAGTTGGTGCTGGTGTTCCTGG[1] (p.562LGVGAGVPG[1])	rs782739997
NM_000501.4(ELN):c.1683ACTTGGAGTTGGTGCTGGTGTTCCTGG[3] (p.562LGVGAGVPG[3])	rs782739997
NM_000501.4(ELN):c.1702G>A (p.Val568Ile)	rs1554683612
NM_000501.4(ELN):c.1706del (p.Pro569fs)
NM_000501.4(ELN):c.171del (p.Pro58fs)	rs1554666513
NM_000501.4(ELN):c.1723_1724delinsTG (p.Ala575Cys)
NM_000501.4(ELN):c.1727G>T (p.Gly576Val)
NM_000501.4(ELN):c.1728dup (p.Val577fs)	rs2132322943
NM_000501.4(ELN):c.1733del (p.Pro578fs)	rs727503782
NM_000501.4(ELN):c.1737del (p.Phe580fs)
NM_000501.4(ELN):c.1740C>T (p.Phe580=)
NM_000501.4(ELN):c.1741G>A (p.Gly581Arg)
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg)	rs17855988
NM_000501.4(ELN):c.1744del (p.Ala582fs)	rs727503783
NM_000501.4(ELN):c.1745C>T (p.Ala582Val)
NM_000501.4(ELN):c.1747+100G>C
NM_000501.4(ELN):c.1747+104A>G
NM_000501.4(ELN):c.1747+105T>C	rs536262259
NM_000501.4(ELN):c.1747+105T>G	rs536262259
NM_000501.4(ELN):c.1747+107G>C
NM_000501.4(ELN):c.1747+15G>C
NM_000501.4(ELN):c.1747+22G>A
NM_000501.4(ELN):c.1747+32C>T
NM_000501.4(ELN):c.1747+56C>T
NM_000501.4(ELN):c.1747+71C>A
NM_000501.4(ELN):c.1747+85C>T
NM_000501.4(ELN):c.1747+86C>T
NM_000501.4(ELN):c.1747+89A>G
NM_000501.4(ELN):c.1747+93C>T
NM_000501.4(ELN):c.1747+98G>A	rs2132332281
NM_000501.4(ELN):c.1748-18A>G
NM_000501.4(ELN):c.1748-20C>T
NM_000501.4(ELN):c.1748-3C>T
NM_000501.4(ELN):c.1748del (p.Val583fs)
NM_000501.4(ELN):c.1758C>T (p.Ala586=)
NM_000501.4(ELN):c.176G>T (p.Gly59Val)
NM_000501.4(ELN):c.1781A>T (p.Lys594Ile)	rs782679448
NM_000501.4(ELN):c.1785T>A (p.Tyr595Ter)	rs727503033
NM_000501.4(ELN):c.1787-11T>A	rs782431386
NM_000501.4(ELN):c.1787-4G>A
NM_000501.4(ELN):c.1787-6C>T
NM_000501.4(ELN):c.1803G>T (p.Gly601=)
NM_000501.4(ELN):c.1806C>G (p.Val602=)
NM_000501.4(ELN):c.1817del (p.Leu606fs)	rs1797063858
NM_000501.4(ELN):c.1819G>C (p.Gly607Arg)	rs781963804
NM_000501.4(ELN):c.1827C>T (p.Leu609=)
NM_000501.4(ELN):c.1844C>T (p.Pro615Leu)
NM_000501.4(ELN):c.1848C>T (p.Gly616=)
NM_000501.4(ELN):c.1858+16A>G
NM_000501.4(ELN):c.1858+5G>C	rs1554686162
NM_000501.4(ELN):c.1858G>C (p.Gly620Arg)	rs727503034
NM_000501.4(ELN):c.1858G>T (p.Gly620Ter)	rs727503034
NM_000501.4(ELN):c.1859-7T>C
NM_000501.4(ELN):c.1863C>T (p.Ala621=)
NM_000501.4(ELN):c.1870G>A (p.Ala624Thr)
NM_000501.4(ELN):c.1878_1879insAAAGCTTTG (p.Ala626_Ala627insLysAlaLeu)	rs1563868747
NM_000501.4(ELN):c.1881T>A (p.Ala627=)
NM_000501.4(ELN):c.1884_1886del (p.Ala630del)
NM_000501.4(ELN):c.1885_1902dup (p.Ala629_Ala634dup)	rs1337161292
NM_000501.4(ELN):c.1891A>G (p.Lys631Glu)
NM_000501.4(ELN):c.1894G>T (p.Ala632Ser)
NM_000501.4(ELN):c.18G>C (p.Ala6=)
NM_000501.4(ELN):c.1909G>T (p.Ala637Ser)	rs536177240
NM_000501.4(ELN):c.1918+1G>A	rs727503035
NM_000501.4(ELN):c.1919-1G>A	rs1797218441
NM_000501.4(ELN):c.1921C>G (p.Leu641Val)
NM_000501.4(ELN):c.192G>A (p.Lys64=)
NM_000501.4(ELN):c.192del (p.Lys64fs)
NM_000501.4(ELN):c.1941C>A (p.Leu647=)	rs782117709
NM_000501.4(ELN):c.1941C>T (p.Leu647=)
NM_000501.4(ELN):c.1946G>A (p.Gly649Glu)	rs200041224
NM_000501.4(ELN):c.1946G>C (p.Gly649Ala)	rs200041224
NM_000501.4(ELN):c.1946_1954dup (p.646GLG[3])	rs374813147
NM_000501.4(ELN):c.1956_1970del (p.648GGLGV[1])	rs782015142
NM_000501.4(ELN):c.1957G>A (p.Gly653Arg)
NM_000501.4(ELN):c.196+10A>C
NM_000501.4(ELN):c.196+17C>G
NM_000501.4(ELN):c.196+17C>T
NM_000501.4(ELN):c.196+5G>A
NM_000501.4(ELN):c.1961G>A (p.Gly654Glu)
NM_000501.4(ELN):c.197-9T>C
NM_000501.4(ELN):c.1973del (p.Pro658fs)
NM_000501.4(ELN):c.197T>C (p.Val66Ala)
NM_000501.4(ELN):c.1985G>C (p.Gly662Ala)
NM_000501.4(ELN):c.1993+4A>G	rs781872334
NM_000501.4(ELN):c.1993+7G>C
NM_000501.4(ELN):c.1994-18T>C
NM_000501.4(ELN):c.1994-6C>T
NM_000501.4(ELN):c.1A>G (p.Met1Val)
NM_000501.4(ELN):c.2014G>A (p.Ala672Thr)
NM_000501.4(ELN):c.2031C>T (p.Tyr677=)
NM_000501.4(ELN):c.2033-11C>T
NM_000501.4(ELN):c.2033-1G>C
NM_000501.4(ELN):c.2033G>A (p.Gly678Asp)	rs371321792
NM_000501.4(ELN):c.2058del (p.Gly688fs)	rs886039351
NM_000501.4(ELN):c.205G>C (p.Gly69Arg)
NM_000501.4(ELN):c.2068G>A (p.Gly690Arg)
NM_000501.4(ELN):c.207G>T (p.Gly69=)
NM_000501.4(ELN):c.2086+12C>A	rs2132668936
NM_000501.4(ELN):c.2086+13A>G
NM_000501.4(ELN):c.2086+15C>T
NM_000501.4(ELN):c.2086+4G>A
NM_000501.4(ELN):c.2087-4G>A
NM_000501.4(ELN):c.2089G>A (p.Val697Met)
NM_000501.4(ELN):c.208C>T (p.Leu70Phe)
NM_000501.4(ELN):c.2104G>C (p.Gly702Arg)
NM_000501.4(ELN):c.2106C>A (p.Gly702=)
NM_000501.4(ELN):c.2109C>G (p.Phe703Leu)	rs149755814
NM_000501.4(ELN):c.2114T>C (p.Leu705Ser)
NM_000501.4(ELN):c.2124T>C (p.Ile708=)
NM_000501.4(ELN):c.2128C>G (p.Pro710Ala)	rs368993919
NM_000501.4(ELN):c.2131+10G>A
NM_000501.4(ELN):c.2131+1G>A
NM_000501.4(ELN):c.2132-2A>G
NM_000501.4(ELN):c.2148G>C (p.Gly716=)	rs782642175
NM_000501.4(ELN):c.2151del (p.Ala718fs)	rs2132828209
NM_000501.4(ELN):c.2154T>C (p.Ala718=)
NM_000501.4(ELN):c.215G>T (p.Gly72Val)
NM_000501.4(ELN):c.2161C>A (p.Arg721=)
NM_000501.4(ELN):c.2162G>A (p.Arg721Gln)
NM_000501.4(ELN):c.232+14C>G
NM_000501.4(ELN):c.232G>A (p.Gly78Arg)
NM_000501.4(ELN):c.233-9C>T
NM_000501.4(ELN):c.238G>A (p.Gly80Ser)
NM_000501.4(ELN):c.250G>A (p.Ala84Thr)
NM_000501.4(ELN):c.250G>T (p.Ala84Ser)
NM_000501.4(ELN):c.263C>T (p.Pro88Leu)
NM_000501.4(ELN):c.26C>T (p.Pro9Leu)
NM_000501.4(ELN):c.278del (p.Pro93fs)	rs1791508570
NM_000501.4(ELN):c.294C>T (p.Asp98=)
NM_000501.4(ELN):c.295_296del (p.Ala99fs)	rs1554669297
NM_000501.4(ELN):c.2T>C (p.Met1Thr)	rs863223518
NM_000501.4(ELN):c.305C>G (p.Ala102Gly)
NM_000501.4(ELN):c.326-16T>C
NM_000501.4(ELN):c.326-1G>T
NM_000501.4(ELN):c.327C>T (p.Gly109=)
NM_000501.4(ELN):c.328G>A (p.Ala110Thr)	rs137953195
NM_000501.4(ELN):c.328G>T (p.Ala110Ser)	rs137953195
NM_000501.4(ELN):c.334C>T (p.Leu112Phe)
NM_000501.4(ELN):c.338G>A (p.Gly113Asp)	rs531401757
NM_000501.4(ELN):c.33C>T (p.Pro11=)
NM_000501.4(ELN):c.348del (p.Gly117fs)	rs2131453910
NM_000501.4(ELN):c.359G>T (p.Gly120Val)	rs1554669689
NM_000501.4(ELN):c.364G>T (p.Gly122Ter)
NM_000501.4(ELN):c.369G>A (p.Val123=)
NM_000501.4(ELN):c.376+18G>A
NM_000501.4(ELN):c.376+4C>T
NM_000501.4(ELN):c.376+5G>A	rs782770862
NM_000501.4(ELN):c.377-14C>T
NM_000501.4(ELN):c.377-16G>A
NM_000501.4(ELN):c.377-1G>T	rs1554669774
NM_000501.4(ELN):c.377-2A>G
NM_000501.4(ELN):c.383del (p.Val128fs)	rs1554669800
NM_000501.4(ELN):c.384G>T (p.Val128=)
NM_000501.4(ELN):c.391C>T (p.Gln131Ter)	rs1791626037
NM_000501.4(ELN):c.402C>T (p.Ala134=)
NM_000501.4(ELN):c.414dup (p.Gly139fs)	rs1791633917
NM_000501.4(ELN):c.417del (p.Val141fs)	rs878854452
NM_000501.4(ELN):c.425C>A (p.Pro142Gln)	rs1013508230
NM_000501.4(ELN):c.426G>A (p.Pro142=)
NM_000501.4(ELN):c.427+11A>G
NM_000501.4(ELN):c.427+4A>G
NM_000501.4(ELN):c.427+8C>A
NM_000501.4(ELN):c.428-10T>C
NM_000501.4(ELN):c.429T>C (p.Gly143=)
NM_000501.4(ELN):c.435G>T (p.Gly145=)
NM_000501.4(ELN):c.435del (p.Leu146fs)	rs727503024
NM_000501.4(ELN):c.43dup (p.Leu15fs)	rs727503022
NM_000501.4(ELN):c.441A>C (p.Pro147=)
NM_000501.4(ELN):c.446_457del (p.Val149_Gly152del)	rs1227487686
NM_000501.4(ELN):c.450C>A (p.Tyr150Ter)	rs137854454
NM_000501.4(ELN):c.450C>G (p.Tyr150Ter)	rs137854454
NM_000501.4(ELN):c.45G>A (p.Leu15=)	rs1787872217
NM_000501.4(ELN):c.469+3G>A
NM_000501.4(ELN):c.469+5G>C	rs727503025
NM_000501.4(ELN):c.469G>C (p.Gly157Arg)	rs1791850438
NM_000501.4(ELN):c.470-10C>T	rs200663056
NM_000501.4(ELN):c.470-37_470del	rs1563793627
NM_000501.4(ELN):c.470-6C>T
NM_000501.4(ELN):c.482C>T (p.Pro161Leu)
NM_000501.4(ELN):c.483C>A (p.Pro161=)	rs150690195
NM_000501.4(ELN):c.484G>A (p.Gly162Ser)
NM_000501.4(ELN):c.48C>G (p.Leu16=)
NM_000501.4(ELN):c.526A>T (p.Lys176Ter)	rs137854455
NM_000501.4(ELN):c.53T>G (p.Leu18Arg)
NM_000501.4(ELN):c.541+14T>C
NM_000501.4(ELN):c.542-10A>G
NM_000501.4(ELN):c.542-1G>C
NM_000501.4(ELN):c.542-2A>T	rs782528759
NM_000501.4(ELN):c.548G>A (p.Gly183Asp)
NM_000501.4(ELN):c.554_555delinsA (p.Ala185fs)
NM_000501.4(ELN):c.559G>A (p.Ala187Thr)
NM_000501.4(ELN):c.572-19G>A
NM_000501.4(ELN):c.581C>A (p.Pro194His)
NM_000501.4(ELN):c.582del (p.Phe195fs)	rs2131603022
NM_000501.4(ELN):c.585T>C (p.Phe195=)
NM_000501.4(ELN):c.590G>A (p.Gly197Glu)	rs782698807
NM_000501.4(ELN):c.592C>T (p.Pro198Ser)
NM_000501.4(ELN):c.594G>A (p.Pro198=)	rs140337204
NM_000501.4(ELN):c.594G>T (p.Pro198=)	rs140337204
NM_000501.4(ELN):c.59del (p.Ile20fs)
NM_000501.4(ELN):c.5C>T (p.Ala2Val)
NM_000501.4(ELN):c.602G>C (p.Gly201Ala)	rs1792623793
NM_000501.4(ELN):c.608del (p.Pro203fs)	rs727504581
NM_000501.4(ELN):c.609del (p.Leu204fs)
NM_000501.4(ELN):c.611del (p.Leu204fs)
NM_000501.4(ELN):c.61C>T (p.Leu21Phe)
NM_000501.4(ELN):c.634A>T (p.Lys212Ter)	rs1554672587
NM_000501.4(ELN):c.635A>G (p.Lys212Arg)
NM_000501.4(ELN):c.643+15C>T
NM_000501.4(ELN):c.643+1G>C	rs1131691482
NM_000501.4(ELN):c.643+1_643+2delinsAG	rs1554672602
NM_000501.4(ELN):c.644-13G>T	rs2131638108
NM_000501.4(ELN):c.644-17CT[4]
NM_000501.4(ELN):c.644-6C>T
NM_000501.4(ELN):c.644G>A (p.Gly215Asp)
NM_000501.4(ELN):c.65_69dup (p.Ser24fs)	rs1787875866
NM_000501.4(ELN):c.660del (p.Tyr221fs)
NM_000501.4(ELN):c.662dup (p.Tyr221Ter)
NM_000501.4(ELN):c.671G>A (p.Gly224Glu)
NM_000501.4(ELN):c.677T>G (p.Leu226Arg)
NM_000501.4(ELN):c.685+11C>A
NM_000501.4(ELN):c.685+18A>G
NM_000501.4(ELN):c.686-18A>G
NM_000501.4(ELN):c.686-1G>A	rs1583818183
NM_000501.4(ELN):c.690T>A (p.Tyr230Ter)	rs1400530335
NM_000501.4(ELN):c.691G>A (p.Gly231Arg)
NM_000501.4(ELN):c.69C>T (p.Pro23=)
NM_000501.4(ELN):c.69del (p.Ser24fs)
NM_000501.4(ELN):c.6G>C (p.Ala2=)
NM_000501.4(ELN):c.705G>A (p.Val235=)
NM_000501.4(ELN):c.717G>T (p.Ala239=)	rs782502253
NM_000501.4(ELN):c.726T>C (p.Ala242=)
NM_000501.4(ELN):c.741G>T (p.Gly247=)
NM_000501.4(ELN):c.741del (p.Thr248fs)	rs727503026
NM_000501.4(ELN):c.745+16C>T
NM_000501.4(ELN):c.746-2A>T
NM_000501.4(ELN):c.746-7C>T
NM_000501.4(ELN):c.74G>A (p.Arg25Gln)
NM_000501.4(ELN):c.762AGC[3] (p.Ala260del)
NM_000501.4(ELN):c.762AGC[5] (p.Ala260dup)	rs782185396
NM_000501.4(ELN):c.763G>A (p.Ala255Thr)
NM_000501.4(ELN):c.775del (p.Ala259fs)
NM_000501.4(ELN):c.786A>T (p.Ala262=)	rs782342976
NM_000501.4(ELN):c.786del (p.Ala263fs)
NM_000501.4(ELN):c.799+6T>A
NM_000501.4(ELN):c.79G>A (p.Gly27Arg)
NM_000501.4(ELN):c.800-2A>G	rs727503027
NM_000501.4(ELN):c.800-3C>G	rs397516433
NM_000501.4(ELN):c.809_817del (p.Ala270_Gly272del)
NM_000501.4(ELN):c.813C>T (p.Ala271=)
NM_000501.4(ELN):c.814G>A (p.Gly272Arg)
NM_000501.4(ELN):c.82+13C>T
NM_000501.4(ELN):c.82+14G>A
NM_000501.4(ELN):c.82+1G>A	rs2130830261
NM_000501.4(ELN):c.82+1G>C	rs2130830261
NM_000501.4(ELN):c.83-18C>T
NM_000501.4(ELN):c.83-20C>T
NM_000501.4(ELN):c.840_843dup (p.Val282fs)	rs1794096639
NM_000501.4(ELN):c.851G>A (p.Gly284Asp)	rs1287098263
NM_000501.4(ELN):c.851G>C (p.Gly284Ala)
NM_000501.4(ELN):c.858T>A (p.Pro286=)
NM_000501.4(ELN):c.862dup (p.Ala288fs)	rs727503028
NM_000501.4(ELN):c.863C>T (p.Ala288Val)
NM_000501.4(ELN):c.869del (p.Pro290fs)	rs1794104889
NM_000501.4(ELN):c.87C>T (p.Val29=)
NM_000501.4(ELN):c.885del (p.Ile295fs)	rs1794108907
NM_000501.4(ELN):c.889+16G>A
NM_000501.4(ELN):c.889+1G>C	rs782238674
NM_000501.4(ELN):c.889+20G>T
NM_000501.4(ELN):c.889+2T>C	rs727504419
NM_000501.4(ELN):c.889+6A>G
NM_000501.4(ELN):c.889G>A (p.Gly297Ser)
NM_000501.4(ELN):c.889G>T (p.Gly297Cys)
NM_000501.4(ELN):c.890-14G>A
NM_000501.4(ELN):c.890-1G>A	rs1794129841
NM_000501.4(ELN):c.890-2A>G	rs727504434
NM_000501.4(ELN):c.891C>T (p.Gly297=)
NM_000501.4(ELN):c.8del (p.Gly3fs)	rs2130826217
NM_000501.4(ELN):c.906TGCAGC[1] (p.Ala308_Ala311del)	rs782133793
NM_000501.4(ELN):c.906TGCAGC[4] (p.Ala311_Lys312insAlaAla)
NM_000501.4(ELN):c.909_916del (p.Ala304fs)	rs2131856285
NM_000501.4(ELN):c.911C>G (p.Ala304Gly)
NM_000501.4(ELN):c.913G>A (p.Ala305Thr)	rs1060503513
NM_000501.4(ELN):c.917C>T (p.Ala306Val)
NM_000501.4(ELN):c.924A>T (p.Ala308=)	rs539451717
NM_000501.4(ELN):c.930C>G (p.Ala310=)
NM_000501.4(ELN):c.944A>G (p.Lys315Arg)	rs1554676454
NM_000501.4(ELN):c.948T>A (p.Tyr316Ter)	rs2131858633
NM_000501.4(ELN):c.949+11C>T
NM_000501.4(ELN):c.949+13C>G
NM_000501.4(ELN):c.949+5G>A
NM_000501.4(ELN):c.949+6T>C	rs1794154462
NM_000501.4(ELN):c.949+8_949+19del
NM_000501.4(ELN):c.949+9C>T
NM_000501.4(ELN):c.94del (p.Ala32fs)
NM_000501.4(ELN):c.96del (p.Ile33fs)	rs2131151265
NM_000501.4(ELN):c.993G>A (p.Pro331=)	rs371757750
NM_000501.4(ELN):c.[1034_1057dup;1741_1742delinsCA]
NM_001077653.2(TBX20):c.117C>G (p.Ile39Met)	rs1562569196
NM_001077653.2(TBX20):c.374C>A (p.Ser125Ter)	rs766692577
NM_001077653.2(TBX20):c.527A>C (p.Asp176Ala)	rs201782046
NM_001278939.1(ELN):c.748del	rs1793092853
NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter)	rs1057518422
NM_001942.4(DSG1):c.604G>T (p.Glu202Ter)	rs1057518788
NM_004415.4(DSP):c.2528C>A (p.Ser843Ter)	rs1057518920
NM_005585.5(SMAD6):c.1004C>A (p.Ala335Glu)	rs900988907
NM_005585.5(SMAD6):c.1005G>A (p.Ala335=)
NM_005585.5(SMAD6):c.1009T>A (p.Trp337Arg)
NM_005585.5(SMAD6):c.1014G>C (p.Glu338Asp)	rs2140681200
NM_005585.5(SMAD6):c.1014G>T (p.Glu338Asp)
NM_005585.5(SMAD6):c.1016A>T (p.His339Leu)
NM_005585.5(SMAD6):c.1021A>G (p.Thr341Ala)
NM_005585.5(SMAD6):c.1025G>A (p.Arg342His)
NM_005585.5(SMAD6):c.102C>T (p.Asp34=)	rs1197212804
NM_005585.5(SMAD6):c.1031G>T (p.Gly344Val)	rs2140681275
NM_005585.5(SMAD6):c.1040del (p.Tyr347fs)	rs1894554603
NM_005585.5(SMAD6):c.1041_1042del (p.Ala348fs)	rs1894554671
NM_005585.5(SMAD6):c.1041_1044del (p.Leu346_Tyr347insTer)
NM_005585.5(SMAD6):c.104A>G (p.Glu35Gly)
NM_005585.5(SMAD6):c.1050C>G (p.Tyr350Ter)	rs200493039
NM_005585.5(SMAD6):c.1050C>T (p.Tyr350=)
NM_005585.5(SMAD6):c.1051dup (p.Asp351fs)
NM_005585.5(SMAD6):c.1053C>T (p.Asp351=)	rs1166776083
NM_005585.5(SMAD6):c.1054C>A (p.Gln352Lys)
NM_005585.5(SMAD6):c.1055_1056insAT (p.Ala353fs)	rs2140681355
NM_005585.5(SMAD6):c.1059C>T (p.Ala353=)
NM_005585.5(SMAD6):c.1066A>G (p.Ile356Val)
NM_005585.5(SMAD6):c.1068C>T (p.Ile356=)
NM_005585.5(SMAD6):c.106G>T (p.Asp36Tyr)	rs773308777
NM_005585.5(SMAD6):c.1075G>C (p.Asp359His)	rs1595804836
NM_005585.5(SMAD6):c.1078C>G (p.Leu360Val)
NM_005585.5(SMAD6):c.107A>C (p.Asp36Ala)
NM_005585.5(SMAD6):c.107A>G (p.Asp36Gly)	rs763029325
NM_005585.5(SMAD6):c.107_128dup (p.Glu44fs)
NM_005585.5(SMAD6):c.1090del (p.Ser364fs)	rs2140681457
NM_005585.5(SMAD6):c.1093G>T (p.Gly365Cys)	rs1176080464
NM_005585.5(SMAD6):c.1101C>T (p.Cys367=)
NM_005585.5(SMAD6):c.1102C>G (p.Leu368Val)	rs1555440081
NM_005585.5(SMAD6):c.1103T>C (p.Leu368Pro)
NM_005585.5(SMAD6):c.1105G>A (p.Gly369Ser)	rs1294873185
NM_005585.5(SMAD6):c.1118T>C (p.Leu373Pro)	rs947145210
NM_005585.5(SMAD6):c.1119G>C (p.Leu373=)
NM_005585.5(SMAD6):c.1125G>A (p.Gln375=)
NM_005585.5(SMAD6):c.1127G>A (p.Arg376His)
NM_005585.5(SMAD6):c.1132G>A (p.Glu378Lys)
NM_005585.5(SMAD6):c.1141C>G (p.Arg381Gly)
NM_005585.5(SMAD6):c.1144C>T (p.Arg382Ter)
NM_005585.5(SMAD6):c.114C>G (p.Ser38Arg)
NM_005585.5(SMAD6):c.1154G>A (p.Ser385Asn)	rs1555440093
NM_005585.5(SMAD6):c.1157A>G (p.Lys386Arg)
NM_005585.5(SMAD6):c.1158G>T (p.Lys386Asn)
NM_005585.5(SMAD6):c.1168_1173dup (p.Gly390_Ile391dup)	rs1595804976
NM_005585.5(SMAD6):c.1169G>T (p.Gly390Val)
NM_005585.5(SMAD6):c.1172T>A (p.Ile391Asn)
NM_005585.5(SMAD6):c.1175T>C (p.Leu392Pro)	rs1265396527
NM_005585.5(SMAD6):c.1178T>C (p.Leu393Pro)
NM_005585.5(SMAD6):c.1182C>G (p.Ser394Arg)	rs2140681716
NM_005585.5(SMAD6):c.1183A>T (p.Lys395Ter)
NM_005585.5(SMAD6):c.1195G>T (p.Gly399Cys)
NM_005585.5(SMAD6):c.1198G>C (p.Val400Leu)
NM_005585.5(SMAD6):c.1198G>T (p.Val400Leu)
NM_005585.5(SMAD6):c.1199T>A (p.Val400Glu)	rs2140681753
NM_005585.5(SMAD6):c.1200_1391del (p.Trp401_Val464del)
NM_005585.5(SMAD6):c.120C>A (p.Gly40=)	rs149612008
NM_005585.5(SMAD6):c.120C>T (p.Gly40=)	rs149612008
NM_005585.5(SMAD6):c.1210A>G (p.Asn404Asp)
NM_005585.5(SMAD6):c.1211A>G (p.Asn404Ser)
NM_005585.5(SMAD6):c.1216G>A (p.Gly406Ser)
NM_005585.5(SMAD6):c.1216G>T (p.Gly406Cys)	rs539298543
NM_005585.5(SMAD6):c.1236C>T (p.Val412=)
NM_005585.5(SMAD6):c.1242C>G (p.Ser414=)	rs1469006490
NM_005585.5(SMAD6):c.1244C>T (p.Pro415Leu)	rs387907284
NM_005585.5(SMAD6):c.1245G>A (p.Pro415=)
NM_005585.5(SMAD6):c.124C>T (p.Arg42Ter)	rs1447391811
NM_005585.5(SMAD6):c.1255G>A (p.Ala419Thr)	rs900897541
NM_005585.5(SMAD6):c.125G>A (p.Arg42Gln)	rs1270837180
NM_005585.5(SMAD6):c.1261G>A (p.Gly421Ser)
NM_005585.5(SMAD6):c.1263C>T (p.Gly421=)
NM_005585.5(SMAD6):c.1273dup (p.Leu425fs)	rs2140682011
NM_005585.5(SMAD6):c.1278C>A (p.Val426=)	rs1375981080
NM_005585.5(SMAD6):c.1278C>T (p.Val426=)
NM_005585.5(SMAD6):c.1279G>T (p.Val427Leu)
NM_005585.5(SMAD6):c.127G>C (p.Ala43Pro)
NM_005585.5(SMAD6):c.1294C>T (p.Pro432Ser)
NM_005585.5(SMAD6):c.1295C>A (p.Pro432His)
NM_005585.5(SMAD6):c.1296dup (p.Gly433fs)	rs751440011
NM_005585.5(SMAD6):c.1299C>G (p.Gly433=)
NM_005585.5(SMAD6):c.12C>T (p.Ser4=)
NM_005585.5(SMAD6):c.1300T>C (p.Tyr434His)
NM_005585.5(SMAD6):c.1305_1306del (p.Ile436fs)
NM_005585.5(SMAD6):c.1311G>A (p.Lys437=)
NM_005585.5(SMAD6):c.1321T>C (p.Phe441Leu)	rs993487814
NM_005585.5(SMAD6):c.1323dup (p.Glu442fs)	rs1894568566
NM_005585.5(SMAD6):c.1324G>A (p.Glu442Lys)	rs778302338
NM_005585.5(SMAD6):c.1324G>C (p.Glu442Gln)
NM_005585.5(SMAD6):c.1324del (p.Glu442fs)
NM_005585.5(SMAD6):c.1328G>C (p.Arg443Pro)	rs554980660
NM_005585.5(SMAD6):c.1347_1348del (p.Pro450fs)
NM_005585.5(SMAD6):c.1348C>A (p.Pro450Thr)	rs369864879
NM_005585.5(SMAD6):c.1350C>T (p.Pro450=)
NM_005585.5(SMAD6):c.135G>C (p.Pro45=)	rs868172579
NM_005585.5(SMAD6):c.1360G>A (p.Ala454Thr)	rs754474911
NM_005585.5(SMAD6):c.1360G>C (p.Ala454Pro)
NM_005585.5(SMAD6):c.1362C>T (p.Ala454=)	rs749785381
NM_005585.5(SMAD6):c.1363G>A (p.Ala455Thr)
NM_005585.5(SMAD6):c.1373C>G (p.Pro458Arg)	rs746188996
NM_005585.5(SMAD6):c.1375T>A (p.Tyr459Asn)
NM_005585.5(SMAD6):c.1378del (p.Asp460fs)
NM_005585.5(SMAD6):c.137C>T (p.Ala46Val)	rs2140580758
NM_005585.5(SMAD6):c.1383dup (p.Asn462fs)
NM_005585.5(SMAD6):c.1389C>T (p.Ser463=)
NM_005585.5(SMAD6):c.1391T>C (p.Val464Ala)
NM_005585.5(SMAD6):c.1395_1404del (p.Ile466fs)	rs2140682369
NM_005585.5(SMAD6):c.1396A>C (p.Ile466Leu)
NM_005585.5(SMAD6):c.1403T>C (p.Phe468Ser)	rs1182669434
NM_005585.5(SMAD6):c.1405G>C (p.Ala469Pro)	rs1416212959
NM_005585.5(SMAD6):c.1408A>C (p.Lys470Gln)
NM_005585.5(SMAD6):c.140C>T (p.Pro47Leu)
NM_005585.5(SMAD6):c.1412_1413delinsT (p.Gly471fs)	rs1567116253
NM_005585.5(SMAD6):c.1417G>C (p.Gly473Arg)	rs2140682417
NM_005585.5(SMAD6):c.142C>T (p.Arg48Trp)
NM_005585.5(SMAD6):c.1435C>T (p.Gln479Ter)
NM_005585.5(SMAD6):c.1440dup (p.Ile481fs)
NM_005585.5(SMAD6):c.1447T>A (p.Ser483Thr)	rs1894575580
NM_005585.5(SMAD6):c.1450T>C (p.Cys484Arg)	rs1894575710
NM_005585.5(SMAD6):c.1451G>T (p.Cys484Phe)	rs387907283
NM_005585.5(SMAD6):c.1453C>T (p.Pro485Ser)
NM_005585.5(SMAD6):c.1465G>A (p.Glu489Lys)
NM_005585.5(SMAD6):c.1465G>T (p.Glu489Ter)
NM_005585.5(SMAD6):c.1479C>T (p.Asn493=)
NM_005585.5(SMAD6):c.1481A>C (p.Asn494Thr)
NM_005585.5(SMAD6):c.1488del (p.Arg496fs)	rs2140682691
NM_005585.5(SMAD6):c.1489T>G (p.Ter497Glu)
NM_005585.5(SMAD6):c.148A>T (p.Arg50Ter)
NM_005585.5(SMAD6):c.153G>A (p.Glu51=)
NM_005585.5(SMAD6):c.153G>C (p.Glu51Asp)
NM_005585.5(SMAD6):c.157G>A (p.Gly53Arg)	rs1325349483
NM_005585.5(SMAD6):c.161G>C (p.Gly54Ala)
NM_005585.5(SMAD6):c.161G>T (p.Gly54Val)
NM_005585.5(SMAD6):c.168C>T (p.Gly56=)
NM_005585.5(SMAD6):c.169C>A (p.Arg57Ser)
NM_005585.5(SMAD6):c.16C>T (p.Arg6Cys)	rs762143900
NM_005585.5(SMAD6):c.170_171delinsTT (p.Arg57Leu)	rs1595756540
NM_005585.5(SMAD6):c.171C>G (p.Arg57=)	rs753456441
NM_005585.5(SMAD6):c.172T>C (p.Ser58Pro)
NM_005585.5(SMAD6):c.178G>A (p.Val60Ile)	rs1298929102
NM_005585.5(SMAD6):c.178G>T (p.Val60Phe)
NM_005585.5(SMAD6):c.182G>C (p.Arg61Pro)	rs1306731976
NM_005585.5(SMAD6):c.187G>A (p.Val63Ile)	rs1595756583
NM_005585.5(SMAD6):c.18C>G (p.Arg6=)
NM_005585.5(SMAD6):c.18_22dup (p.Gly8fs)
NM_005585.5(SMAD6):c.192C>G (p.Ala64=)	rs1242699041
NM_005585.5(SMAD6):c.19T>C (p.Ser7Pro)	rs1448375284
NM_005585.5(SMAD6):c.1A>G (p.Met1Val)
NM_005585.5(SMAD6):c.201G>A (p.Arg67=)	rs2140580891
NM_005585.5(SMAD6):c.204C>T (p.Pro68=)
NM_005585.5(SMAD6):c.208G>A (p.Asp70Asn)
NM_005585.5(SMAD6):c.20C>A (p.Ser7Ter)
NM_005585.5(SMAD6):c.210C>T (p.Asp70=)
NM_005585.5(SMAD6):c.21G>A (p.Ser7=)	rs2140580360
NM_005585.5(SMAD6):c.220C>T (p.Gln74Ter)	rs1567091382
NM_005585.5(SMAD6):c.222G>C (p.Gln74His)
NM_005585.5(SMAD6):c.223C>T (p.Arg75Ter)	rs1595756640
NM_005585.5(SMAD6):c.232_250del (p.Gln78fs)	rs965061234
NM_005585.5(SMAD6):c.232_250dup (p.Arg84fs)	rs965061234
NM_005585.5(SMAD6):c.239C>T (p.Ala80Val)	rs1555434180
NM_005585.5(SMAD6):c.240G>C (p.Ala80=)
NM_005585.5(SMAD6):c.240_264del (p.Gly81fs)
NM_005585.5(SMAD6):c.247C>G (p.Arg83Gly)	rs1301285133
NM_005585.5(SMAD6):c.249C>G (p.Arg83=)
NM_005585.5(SMAD6):c.249C>T (p.Arg83=)
NM_005585.5(SMAD6):c.250C>T (p.Arg84Trp)
NM_005585.5(SMAD6):c.259G>C (p.Gly87Arg)	rs1422119769
NM_005585.5(SMAD6):c.259G>T (p.Gly87Trp)
NM_005585.5(SMAD6):c.25C>G (p.Leu9Val)
NM_005585.5(SMAD6):c.261G>A (p.Gly87=)	rs1595756699
NM_005585.5(SMAD6):c.262G>T (p.Gly88Cys)	rs887913905
NM_005585.5(SMAD6):c.263G>T (p.Gly88Val)
NM_005585.5(SMAD6):c.263del (p.Gly88fs)	rs1199495614
NM_005585.5(SMAD6):c.263dup (p.Arg91fs)	rs1199495614
NM_005585.5(SMAD6):c.264C>A (p.Gly88=)
NM_005585.5(SMAD6):c.264C>G (p.Gly88=)	rs547033777
NM_005585.5(SMAD6):c.264C>T (p.Gly88=)
NM_005585.5(SMAD6):c.266C>T (p.Pro89Leu)	rs1284707011
NM_005585.5(SMAD6):c.268C>T (p.Pro90Ser)
NM_005585.5(SMAD6):c.269C>G (p.Pro90Arg)
NM_005585.5(SMAD6):c.269C>T (p.Pro90Leu)	rs1448623139
NM_005585.5(SMAD6):c.269del (p.Pro90fs)	rs1006397889
NM_005585.5(SMAD6):c.269dup (p.Arg91fs)	rs1006397889
NM_005585.5(SMAD6):c.26T>C (p.Leu9Pro)
NM_005585.5(SMAD6):c.270G>A (p.Pro90=)
NM_005585.5(SMAD6):c.272G>T (p.Arg91Met)
NM_005585.5(SMAD6):c.277A>C (p.Met93Leu)	rs781686740
NM_005585.5(SMAD6):c.281C>T (p.Ser94Leu)
NM_005585.5(SMAD6):c.282G>A (p.Ser94=)
NM_005585.5(SMAD6):c.282G>C (p.Ser94=)
NM_005585.5(SMAD6):c.288A>G (p.Pro96=)	rs957321968
NM_005585.5(SMAD6):c.28G>T (p.Val10Leu)
NM_005585.5(SMAD6):c.291G>C (p.Gly97=)	rs1454366386
NM_005585.5(SMAD6):c.292G>T (p.Ala98Ser)	rs1383502178
NM_005585.5(SMAD6):c.293C>T (p.Ala98Val)
NM_005585.5(SMAD6):c.295G>A (p.Gly99Ser)
NM_005585.5(SMAD6):c.298G>A (p.Ala100Thr)	rs946134204
NM_005585.5(SMAD6):c.298G>C (p.Ala100Pro)	rs946134204
NM_005585.5(SMAD6):c.29T>G (p.Val10Gly)
NM_005585.5(SMAD6):c.2T>A (p.Met1Lys)
NM_005585.5(SMAD6):c.2T>C (p.Met1Thr)	rs1409145798
NM_005585.5(SMAD6):c.2T>G (p.Met1Arg)	rs1409145798
NM_005585.5(SMAD6):c.301G>A (p.Gly101Arg)	rs1433694123
NM_005585.5(SMAD6):c.302G>T (p.Gly101Val)
NM_005585.5(SMAD6):c.303del (p.Ser102fs)
NM_005585.5(SMAD6):c.310C>T (p.Leu104=)
NM_005585.5(SMAD6):c.318_320delinsAGG (p.Asp106_Val107delinsGluGly)	rs1060500751
NM_005585.5(SMAD6):c.319G>A (p.Val107Met)
NM_005585.5(SMAD6):c.32G>A (p.Arg11Gln)
NM_005585.5(SMAD6):c.338C>T (p.Pro113Leu)
NM_005585.5(SMAD6):c.339G>C (p.Pro113=)
NM_005585.5(SMAD6):c.341dup (p.Trp115fs)	rs1893030772
NM_005585.5(SMAD6):c.342C>T (p.Gly114=)
NM_005585.5(SMAD6):c.350C>G (p.Pro117Arg)
NM_005585.5(SMAD6):c.350C>T (p.Pro117Leu)
NM_005585.5(SMAD6):c.352G>A (p.Glu118Lys)
NM_005585.5(SMAD6):c.356G>A (p.Ser119Asn)
NM_005585.5(SMAD6):c.358G>A (p.Asp120Asn)
NM_005585.5(SMAD6):c.358G>C (p.Asp120His)	rs1397296874
NM_005585.5(SMAD6):c.363C>G (p.Cys121Trp)
NM_005585.5(SMAD6):c.364G>T (p.Glu122Ter)	rs1567091529
NM_005585.5(SMAD6):c.382C>A (p.Leu128Ile)	rs1567091533
NM_005585.5(SMAD6):c.382C>T (p.Leu128Phe)	rs1567091533
NM_005585.5(SMAD6):c.384_385del (p.Ser130fs)
NM_005585.5(SMAD6):c.387_388del (p.Ser130fs)	rs2140581496
NM_005585.5(SMAD6):c.38T>G (p.Leu13Arg)	rs1893016936
NM_005585.5(SMAD6):c.390G>C (p.Ser130=)
NM_005585.5(SMAD6):c.395G>T (p.Arg132Leu)
NM_005585.5(SMAD6):c.396G>C (p.Arg132=)
NM_005585.5(SMAD6):c.396G>T (p.Arg132=)	rs2140581526
NM_005585.5(SMAD6):c.403_423del (p.Ala135_Ala141del)
NM_005585.5(SMAD6):c.403_423dup (p.Ala141_Ser142insAlaGlyAlaProArgAspAla)
NM_005585.5(SMAD6):c.411G>A (p.Ala137=)	rs1555434217
NM_005585.5(SMAD6):c.413C>T (p.Pro138Leu)	rs1595756885
NM_005585.5(SMAD6):c.415C>T (p.Arg139Trp)
NM_005585.5(SMAD6):c.418G>A (p.Asp140Asn)
NM_005585.5(SMAD6):c.41G>A (p.Trp14Ter)
NM_005585.5(SMAD6):c.422C>G (p.Ala141Gly)
NM_005585.5(SMAD6):c.425_426delinsTT (p.Ser142Ile)
NM_005585.5(SMAD6):c.428A>T (p.Asp143Val)
NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter)	rs1246889300
NM_005585.5(SMAD6):c.430C>A (p.Pro144Thr)
NM_005585.5(SMAD6):c.439G>C (p.Gly147Arg)
NM_005585.5(SMAD6):c.439G>T (p.Gly147Trp)	rs867644316
NM_005585.5(SMAD6):c.43C>G (p.Arg15Gly)	rs766270982
NM_005585.5(SMAD6):c.43C>T (p.Arg15Ter)
NM_005585.5(SMAD6):c.446C>T (p.Ala149Val)	rs535980291
NM_005585.5(SMAD6):c.447C>G (p.Ala149=)
NM_005585.5(SMAD6):c.455C>T (p.Pro152Leu)
NM_005585.5(SMAD6):c.459G>T (p.Ala153=)
NM_005585.5(SMAD6):c.461dup (p.Gly155fs)
NM_005585.5(SMAD6):c.465C>T (p.Gly155=)
NM_005585.5(SMAD6):c.465_471del (p.Gly156fs)	rs958818801
NM_005585.5(SMAD6):c.465_471dup (p.Ser158fs)	rs958818801
NM_005585.5(SMAD6):c.466G>T (p.Gly156Trp)
NM_005585.5(SMAD6):c.471G>C (p.Arg157=)
NM_005585.5(SMAD6):c.474T>G (p.Ser158Arg)
NM_005585.5(SMAD6):c.475C>G (p.Arg159Gly)
NM_005585.5(SMAD6):c.477_478del (p.Glu160fs)
NM_005585.5(SMAD6):c.481G>T (p.Ala161Ser)
NM_005585.5(SMAD6):c.485G>T (p.Arg162Leu)
NM_005585.5(SMAD6):c.488C>A (p.Ser163Ter)
NM_005585.5(SMAD6):c.488C>T (p.Ser163Leu)
NM_005585.5(SMAD6):c.489G>C (p.Ser163=)
NM_005585.5(SMAD6):c.490C>T (p.Arg164Trp)
NM_005585.5(SMAD6):c.493C>T (p.Leu165=)
NM_005585.5(SMAD6):c.493CTG[3] (p.Leu168del)
NM_005585.5(SMAD6):c.493CTG[5] (p.Leu168_Glu169insLeu)
NM_005585.5(SMAD6):c.494T>G (p.Leu165Arg)
NM_005585.5(SMAD6):c.495G>A (p.Leu165=)	rs749500105
NM_005585.5(SMAD6):c.496C>T (p.Leu166=)	rs2140581849
NM_005585.5(SMAD6):c.501G>A (p.Leu167=)
NM_005585.5(SMAD6):c.503T>C (p.Leu168Pro)
NM_005585.5(SMAD6):c.505G>T (p.Glu169Ter)
NM_005585.5(SMAD6):c.508C>T (p.Gln170Ter)	rs1235097131
NM_005585.5(SMAD6):c.511G>T (p.Glu171Ter)	rs1893037722
NM_005585.5(SMAD6):c.513A>G (p.Glu171=)	rs1893037828
NM_005585.5(SMAD6):c.516C>G (p.Leu172=)	rs772164418
NM_005585.5(SMAD6):c.516C>T (p.Leu172=)
NM_005585.5(SMAD6):c.519A>T (p.Lys173Asn)
NM_005585.5(SMAD6):c.521C>T (p.Thr174Ile)
NM_005585.5(SMAD6):c.528G>A (p.Thr176=)
NM_005585.5(SMAD6):c.531C>G (p.Tyr177Ter)	rs760571406
NM_005585.5(SMAD6):c.531C>T (p.Tyr177=)	rs760571406
NM_005585.5(SMAD6):c.533C>A (p.Ser178Ter)
NM_005585.5(SMAD6):c.533C>G (p.Ser178Trp)
NM_005585.5(SMAD6):c.533C>T (p.Ser178Leu)
NM_005585.5(SMAD6):c.536T>C (p.Leu179Pro)	rs1278620954
NM_005585.5(SMAD6):c.538C>T (p.Leu180=)
NM_005585.5(SMAD6):c.544C>T (p.Arg182Trp)
NM_005585.5(SMAD6):c.550A>C (p.Lys184Gln)
NM_005585.5(SMAD6):c.553G>A (p.Glu185Lys)
NM_005585.5(SMAD6):c.553G>C (p.Glu185Gln)	rs1893039406
NM_005585.5(SMAD6):c.553G>T (p.Glu185Ter)
NM_005585.5(SMAD6):c.556C>T (p.Arg186Cys)
NM_005585.5(SMAD6):c.557G>A (p.Arg186His)
NM_005585.5(SMAD6):c.557G>C (p.Arg186Pro)
NM_005585.5(SMAD6):c.558C>T (p.Arg186=)
NM_005585.5(SMAD6):c.559T>C (p.Ser187Pro)
NM_005585.5(SMAD6):c.55G>T (p.Val19Phe)
NM_005585.5(SMAD6):c.561G>A (p.Ser187=)
NM_005585.5(SMAD6):c.561G>C (p.Ser187=)
NM_005585.5(SMAD6):c.562C>T (p.Leu188=)
NM_005585.5(SMAD6):c.569C>A (p.Thr190Lys)	rs1893040158
NM_005585.5(SMAD6):c.569C>T (p.Thr190Met)	rs1893040158
NM_005585.5(SMAD6):c.573G>T (p.Leu191=)	rs778199794
NM_005585.5(SMAD6):c.576G>A (p.Leu192=)
NM_005585.5(SMAD6):c.583G>A (p.Val195Met)
NM_005585.5(SMAD6):c.584_611del (p.Val195fs)
NM_005585.5(SMAD6):c.586G>T (p.Glu196Ter)
NM_005585.5(SMAD6):c.588G>T (p.Glu196Asp)	rs1567091749
NM_005585.5(SMAD6):c.590C>T (p.Ser197Phe)
NM_005585.5(SMAD6):c.592C>T (p.Arg198Cys)	rs1261743877
NM_005585.5(SMAD6):c.594C>T (p.Arg198=)	rs565225133
NM_005585.5(SMAD6):c.595G>C (p.Gly199Arg)
NM_005585.5(SMAD6):c.598_612del (p.Gly200_Gly204del)
NM_005585.5(SMAD6):c.605C>T (p.Pro202Leu)
NM_005585.5(SMAD6):c.609C>G (p.Gly203=)
NM_005585.5(SMAD6):c.611G>C (p.Gly204Ala)	rs768542939
NM_005585.5(SMAD6):c.611G>T (p.Gly204Val)
NM_005585.5(SMAD6):c.613T>G (p.Cys205Gly)
NM_005585.5(SMAD6):c.613del (p.Cys205fs)
NM_005585.5(SMAD6):c.614_615delinsAA (p.Cys205Ter)
NM_005585.5(SMAD6):c.620T>G (p.Leu207Arg)
NM_005585.5(SMAD6):c.623T>C (p.Val208Ala)
NM_005585.5(SMAD6):c.628C>T (p.Arg210Cys)
NM_005585.5(SMAD6):c.633C>A (p.Ala211=)
NM_005585.5(SMAD6):c.633C>T (p.Ala211=)
NM_005585.5(SMAD6):c.635A>G (p.Asp212Gly)
NM_005585.5(SMAD6):c.637C>G (p.Leu213Val)
NM_005585.5(SMAD6):c.638dup (p.Arg214fs)
NM_005585.5(SMAD6):c.63C>T (p.Asp21=)	rs780992085
NM_005585.5(SMAD6):c.641G>A (p.Arg214His)
NM_005585.5(SMAD6):c.642C>T (p.Arg214=)
NM_005585.5(SMAD6):c.649G>T (p.Gly217Cys)
NM_005585.5(SMAD6):c.651C>G (p.Gly217=)
NM_005585.5(SMAD6):c.652C>T (p.Gln218Ter)	rs1196005021
NM_005585.5(SMAD6):c.654G>A (p.Gln218=)
NM_005585.5(SMAD6):c.656C>G (p.Pro219Arg)	rs1567091826
NM_005585.5(SMAD6):c.667dup (p.Gln223fs)	rs2140582321
NM_005585.5(SMAD6):c.672G>C (p.Leu224=)
NM_005585.5(SMAD6):c.680G>A (p.Gly227Asp)
NM_005585.5(SMAD6):c.680_684delinsTCGT (p.Gly227fs)	rs1893046284
NM_005585.5(SMAD6):c.681C>T (p.Gly227=)
NM_005585.5(SMAD6):c.682C>G (p.Arg228Gly)
NM_005585.5(SMAD6):c.683G>A (p.Arg228His)	rs1439907263
NM_005585.5(SMAD6):c.685C>G (p.Leu229Val)
NM_005585.5(SMAD6):c.691C>A (p.Arg231Ser)
NM_005585.5(SMAD6):c.691C>G (p.Arg231Gly)	rs1395007983
NM_005585.5(SMAD6):c.691C>T (p.Arg231Cys)	rs1395007983
NM_005585.5(SMAD6):c.692G>C (p.Arg231Pro)	rs1419095990
NM_005585.5(SMAD6):c.702C>T (p.Asp234=)	rs779292711
NM_005585.5(SMAD6):c.703C>T (p.Leu235=)
NM_005585.5(SMAD6):c.706C>T (p.Gln236Ter)
NM_005585.5(SMAD6):c.714C>A (p.Ala238=)	rs746993602
NM_005585.5(SMAD6):c.714C>T (p.Ala238=)	rs746993602
NM_005585.5(SMAD6):c.719A>G (p.Glu240Gly)	rs2140582546
NM_005585.5(SMAD6):c.71A>G (p.Glu24Gly)
NM_005585.5(SMAD6):c.725A>C (p.Lys242Thr)
NM_005585.5(SMAD6):c.729C>G (p.Pro243=)
NM_005585.5(SMAD6):c.729C>T (p.Pro243=)
NM_005585.5(SMAD6):c.730C>G (p.Leu244Val)
NM_005585.5(SMAD6):c.732G>A (p.Leu244=)	rs1180155842
NM_005585.5(SMAD6):c.736_755dup (p.Asp255fs)
NM_005585.5(SMAD6):c.741C>A (p.Cys247Ter)
NM_005585.5(SMAD6):c.741C>G (p.Cys247Trp)	rs2140582642
NM_005585.5(SMAD6):c.746G>T (p.Ser249Ile)	rs924088670
NM_005585.5(SMAD6):c.747C>G (p.Ser249Arg)
NM_005585.5(SMAD6):c.747C>T (p.Ser249=)
NM_005585.5(SMAD6):c.748_749delinsGC (p.Phe250Ala)
NM_005585.5(SMAD6):c.750C>T (p.Phe250=)	rs1164002736
NM_005585.5(SMAD6):c.752CCG[5] (p.Ala254dup)	rs774732566
NM_005585.5(SMAD6):c.754G>T (p.Ala252Ser)
NM_005585.5(SMAD6):c.757G>A (p.Ala253Thr)	rs1893050180
NM_005585.5(SMAD6):c.764A>C (p.Asp255Ala)
NM_005585.5(SMAD6):c.768C>T (p.Gly256=)
NM_005585.5(SMAD6):c.770C>T (p.Pro257Leu)	rs1567092020
NM_005585.5(SMAD6):c.774C>G (p.Thr258=)
NM_005585.5(SMAD6):c.780C>T (p.Cys260=)	rs754314545
NM_005585.5(SMAD6):c.781T>G (p.Cys261Gly)	rs2140582832
NM_005585.5(SMAD6):c.785A>T (p.Asn262Ile)	rs1436851649
NM_005585.5(SMAD6):c.787C>A (p.Pro263Thr)
NM_005585.5(SMAD6):c.787C>T (p.Pro263Ser)	rs1382712515
NM_005585.5(SMAD6):c.788C>T (p.Pro263Leu)	rs765573567
NM_005585.5(SMAD6):c.789C>T (p.Pro263=)
NM_005585.5(SMAD6):c.791del (p.Tyr264fs)
NM_005585.5(SMAD6):c.793C>T (p.His265Tyr)	rs1555434295
NM_005585.5(SMAD6):c.794del (p.His265fs)	rs1567092071
NM_005585.5(SMAD6):c.798C>T (p.Phe266=)	rs758794528
NM_005585.5(SMAD6):c.79_84del (p.Ser27_Gly28del)	rs769605183
NM_005585.5(SMAD6):c.79_84dup (p.Gly28_Gly29insSerGly)
NM_005585.5(SMAD6):c.800G>C (p.Ser267Thr)
NM_005585.5(SMAD6):c.802C>A (p.Arg268=)
NM_005585.5(SMAD6):c.802C>T (p.Arg268Trp)
NM_005585.5(SMAD6):c.806T>A (p.Leu269His)
NM_005585.5(SMAD6):c.807C>T (p.Leu269=)
NM_005585.5(SMAD6):c.812G>C (p.Gly271Ala)
NM_005585.5(SMAD6):c.814C>G (p.Pro272Ala)
NM_005585.5(SMAD6):c.817+16C>T
NM_005585.5(SMAD6):c.817+17G>C
NM_005585.5(SMAD6):c.817+4A>G
NM_005585.5(SMAD6):c.817G>A (p.Glu273Lys)
NM_005585.5(SMAD6):c.817G>T (p.Glu273Ter)	rs1259557323
NM_005585.5(SMAD6):c.818-17T>C
NM_005585.5(SMAD6):c.818-1G>A
NM_005585.5(SMAD6):c.819A>G (p.Glu273=)
NM_005585.5(SMAD6):c.81CGG[5] (p.Gly33dup)	rs936063348
NM_005585.5(SMAD6):c.832C>T (p.Pro278Ser)
NM_005585.5(SMAD6):c.841C>T (p.Arg281Trp)	rs200004068
NM_005585.5(SMAD6):c.842G>A (p.Arg281Gln)	rs758203577
NM_005585.5(SMAD6):c.84C>T (p.Gly28=)
NM_005585.5(SMAD6):c.857A>G (p.Asp286Gly)
NM_005585.5(SMAD6):c.861G>A (p.Glu287=)
NM_005585.5(SMAD6):c.865A>T (p.Lys289Ter)	rs2140596481
NM_005585.5(SMAD6):c.874+15C>T
NM_005585.5(SMAD6):c.874+1G>C
NM_005585.5(SMAD6):c.874+20T>G
NM_005585.5(SMAD6):c.874+4A>C
NM_005585.5(SMAD6):c.874+4A>G
NM_005585.5(SMAD6):c.874+8_874+9del	rs2140596524
NM_005585.5(SMAD6):c.874G>A (p.Asp292Asn)
NM_005585.5(SMAD6):c.875-1G>A
NM_005585.5(SMAD6):c.875-1G>C	rs768925483
NM_005585.5(SMAD6):c.875-2A>T
NM_005585.5(SMAD6):c.875-9C>G
NM_005585.5(SMAD6):c.877C>T (p.Leu293=)
NM_005585.5(SMAD6):c.888C>T (p.Ser296=)
NM_005585.5(SMAD6):c.892T>C (p.Leu298=)
NM_005585.5(SMAD6):c.896C>G (p.Ser299Cys)
NM_005585.5(SMAD6):c.89G>C (p.Gly30Ala)	rs1567091237
NM_005585.5(SMAD6):c.89_100dup (p.Gly30_Gly33dup)	rs1473812330
NM_005585.5(SMAD6):c.89_103dup (p.Asp34_Glu35insGlyGlyGlyGlyAsp)
NM_005585.5(SMAD6):c.900C>G (p.Tyr300Ter)
NM_005585.5(SMAD6):c.900C>T (p.Tyr300=)
NM_005585.5(SMAD6):c.901A>G (p.Thr301Ala)	rs1470199537
NM_005585.5(SMAD6):c.901A>T (p.Thr301Ser)	rs1470199537
NM_005585.5(SMAD6):c.916A>G (p.Thr306Ala)
NM_005585.5(SMAD6):c.928A>G (p.Ile310Val)
NM_005585.5(SMAD6):c.92_100del (p.Gly31_Gly33del)	rs750149627
NM_005585.5(SMAD6):c.93T>A (p.Gly31=)	rs780659575
NM_005585.5(SMAD6):c.93_95del (p.Gly33del)	rs1046189206
NM_005585.5(SMAD6):c.952+13del	rs761315842
NM_005585.5(SMAD6):c.953-17dup	rs2140680944
NM_005585.5(SMAD6):c.953-18C>A	rs938974070
NM_005585.5(SMAD6):c.953-20T>C	rs2140680938
NM_005585.5(SMAD6):c.953-2A>G	rs1016515449
NM_005585.5(SMAD6):c.953-2_968del
NM_005585.5(SMAD6):c.954C>T (p.Asp318=)
NM_005585.5(SMAD6):c.95GCG[4] (p.Gly32_Gly33dup)	rs758201660
NM_005585.5(SMAD6):c.976A>G (p.Thr326Ala)	rs747009304
NM_005585.5(SMAD6):c.97G>A (p.Gly33Ser)
NM_005585.5(SMAD6):c.97G>T (p.Gly33Cys)	rs769111756
NM_005585.5(SMAD6):c.983C>T (p.Pro328Leu)
NM_005585.5(SMAD6):c.991_992insCAC (p.Trp331delinsSerArg)	rs2140681073
NM_005585.5(SMAD6):c.993G>C (p.Trp331Cys)
NM_005585.5(SMAD6):c.998G>A (p.Ser333Asn)
NM_005585.5(SMAD6):c.99C>T (p.Gly33=)
NM_017617.5(NOTCH1):c.1045A>C (p.Thr349Pro)	rs200520088
NM_017617.5(NOTCH1):c.1070T>C (p.Phe357Ser)	rs1843316172
NM_017617.5(NOTCH1):c.1070_1072del (p.Phe357del)	rs1843316084
NM_017617.5(NOTCH1):c.1220C>G (p.Pro407Arg)	rs754529382
NM_017617.5(NOTCH1):c.1242T>G (p.Asp414Glu)	rs1843307597
NM_017617.5(NOTCH1):c.1266C>A (p.Pro422=)	rs762533002
NM_017617.5(NOTCH1):c.1542C>G (p.Cys514Trp)
NM_017617.5(NOTCH1):c.1567C>T (p.His523Tyr)	rs572103199
NM_017617.5(NOTCH1):c.1701C>A (p.Ile567=)	rs773932034
NM_017617.5(NOTCH1):c.1711G>A (p.Asp571Asn)	rs373125283
NM_017617.5(NOTCH1):c.1741A>G (p.Lys581Glu)	rs778992111
NM_017617.5(NOTCH1):c.1753G>A (p.Ala585Thr)	rs775217381
NM_017617.5(NOTCH1):c.1904-16C>T	rs775848413
NM_017617.5(NOTCH1):c.2112C>A (p.Cys704Ter)
NM_017617.5(NOTCH1):c.2148G>C (p.Glu716Asp)	rs376468003
NM_017617.5(NOTCH1):c.2243C>A (p.Thr748Asn)	rs1284149123
NM_017617.5(NOTCH1):c.2266G>T (p.Glu756Ter)
NM_017617.5(NOTCH1):c.2291A>G (p.Asn764Ser)	rs1454630791
NM_017617.5(NOTCH1):c.2326G>T (p.Val776Leu)	rs377286829
NM_017617.5(NOTCH1):c.236G>A (p.Arg79His)	rs768517628
NM_017617.5(NOTCH1):c.2380del (p.Glu794fs)	rs863224901
NM_017617.5(NOTCH1):c.2439C>G (p.Tyr813Ter)	rs1057515422
NM_017617.5(NOTCH1):c.2446A>G (p.Asn816Asp)	rs1589064290
NM_017617.5(NOTCH1):c.2496G>A (p.Pro832=)	rs61751551
NM_017617.5(NOTCH1):c.2496G>T (p.Pro832=)	rs61751551
NM_017617.5(NOTCH1):c.2501C>G (p.Ala834Gly)	rs202144877
NM_017617.5(NOTCH1):c.2514C>T (p.Cys838=)	rs1554728839
NM_017617.5(NOTCH1):c.2520CGG[1] (p.Gly842del)	rs754554370
NM_017617.5(NOTCH1):c.2558_2560del (p.Phe853del)	rs779164170
NM_017617.5(NOTCH1):c.269_270delinsTG (p.Ala90Val)	rs1554730737
NM_017617.5(NOTCH1):c.2705G>A (p.Arg902His)	rs373075482
NM_017617.5(NOTCH1):c.2793C>T (p.Cys931=)	rs557156741
NM_017617.5(NOTCH1):c.2851A>G (p.Ser951Gly)	rs1843150410
NM_017617.5(NOTCH1):c.2898_2899delinsGA (p.Ser966_Tyr967delinsArgAsn)	rs1843149230
NM_017617.5(NOTCH1):c.2950A>G (p.Thr984Ala)	rs1843147969
NM_017617.5(NOTCH1):c.2963C>T (p.Thr988Ile)	rs1843147704
NM_017617.5(NOTCH1):c.3104C>T (p.Thr1035Ile)	rs886039138
NM_017617.5(NOTCH1):c.3171+1_5935-1del
NM_017617.5(NOTCH1):c.3262G>C (p.Gly1088Arg)	rs531420022
NM_017617.5(NOTCH1):c.3282C>A (p.Cys1094Ter)
NM_017617.5(NOTCH1):c.3315G>A (p.Ala1105=)	rs3812602
NM_017617.5(NOTCH1):c.3319C>T (p.Arg1107Ter)	rs41309764
NM_017617.5(NOTCH1):c.3345G>T (p.Leu1115=)	rs752440904
NM_017617.5(NOTCH1):c.335G>A (p.Arg112His)	rs768625801
NM_017617.5(NOTCH1):c.3556G>C (p.Glu1186Gln)
NM_017617.5(NOTCH1):c.3579G>A (p.Gln1193=)	rs61751544
NM_017617.5(NOTCH1):c.3579G>T (p.Gln1193His)	rs61751544
NM_017617.5(NOTCH1):c.35C>T (p.Ala12Val)	rs1473062369
NM_017617.5(NOTCH1):c.3604C>T (p.Pro1202Ser)	rs1554728268
NM_017617.5(NOTCH1):c.3638C>G (p.Thr1213Ser)	rs750536437
NM_017617.5(NOTCH1):c.3765C>A (p.Cys1255Ter)	rs1057515423
NM_017617.5(NOTCH1):c.3832G>A (p.Ala1278Thr)	rs1406056612
NM_017617.5(NOTCH1):c.3852C>T (p.Cys1284=)	rs377289044
NM_017617.5(NOTCH1):c.3853G>T (p.Val1285Leu)	rs756972680
NM_017617.5(NOTCH1):c.389del (p.Pro130fs)	rs1843413593
NM_017617.5(NOTCH1):c.3915G>A (p.Glu1305=)	rs1554728133
NM_017617.5(NOTCH1):c.3970G>T (p.Val1324Leu)	rs149057410
NM_017617.5(NOTCH1):c.3974C>A (p.Ala1325Asp)	rs896438598
NM_017617.5(NOTCH1):c.3999C>G (p.Ile1333Met)
NM_017617.5(NOTCH1):c.4016G>C (p.Gly1339Ala)	rs1131692021
NM_017617.5(NOTCH1):c.404-5T>C	rs1229789449
NM_017617.5(NOTCH1):c.4049G>C (p.Arg1350Pro)	rs150343794
NM_017617.5(NOTCH1):c.4058G>A (p.Gly1353Asp)	rs1274662962
NM_017617.5(NOTCH1):c.4335C>G (p.Ile1445Met)	rs373960609
NM_017617.5(NOTCH1):c.4335C>T (p.Ile1445=)	rs373960609
NM_017617.5(NOTCH1):c.433G>A (p.Ala145Thr)	rs1388726872
NM_017617.5(NOTCH1):c.4512del (p.Cys1505fs)	rs41309766
NM_017617.5(NOTCH1):c.4560C>T (p.Asp1520=)	rs1057523575
NM_017617.5(NOTCH1):c.4583_4586+2dup
NM_017617.5(NOTCH1):c.4608C>G (p.Cys1536Trp)
NM_017617.5(NOTCH1):c.4758_4759insCA (p.Asn1587fs)	rs1843055667
NM_017617.5(NOTCH1):c.4971C>G (p.Ser1657Arg)	rs367838230
NM_017617.5(NOTCH1):c.4971C>T (p.Ser1657=)	rs367838230
NM_017617.5(NOTCH1):c.4985G>A (p.Arg1662Gln)	rs774808496
NM_017617.5(NOTCH1):c.5016C>T (p.Arg1672=)	rs1251609154
NM_017617.5(NOTCH1):c.5019-13_5019-10del	rs374419074
NM_017617.5(NOTCH1):c.5124G>A (p.Ser1708=)	rs35980907
NM_017617.5(NOTCH1):c.5155G>A (p.Glu1719Lys)	rs750085425
NM_017617.5(NOTCH1):c.5167+5G>A
NM_017617.5(NOTCH1):c.5168-7C>T	rs1589056781
NM_017617.5(NOTCH1):c.5215G>A (p.Val1739Met)	rs377294245
NM_017617.5(NOTCH1):c.5218G>T (p.Ala1740Ser)	rs864622062
NM_017617.5(NOTCH1):c.5430G>C (p.Gln1810His)	rs1843005523
NM_017617.5(NOTCH1):c.5438G>T (p.Trp1813Leu)	rs755659037
NM_017617.5(NOTCH1):c.5472+19G>C	rs755674060
NM_017617.5(NOTCH1):c.5476G>A (p.Glu1826Lys)	rs374103443
NM_017617.5(NOTCH1):c.5661C>G (p.Ile1887Met)	rs750185397
NM_017617.5(NOTCH1):c.580A>C (p.Thr194Pro)	rs770333242
NM_017617.5(NOTCH1):c.5819G>A (p.Arg1940His)	rs897872809
NM_017617.5(NOTCH1):c.5923G>A (p.Gly1975Ser)
NM_017617.5(NOTCH1):c.5927T>A (p.Val1976Asp)
NM_017617.5(NOTCH1):c.5950C>T (p.Arg1984Ter)	rs1554826746
NM_017617.5(NOTCH1):c.59G>T (p.Arg20Leu)	rs1554733799
NM_017617.5(NOTCH1):c.6018C>T (p.Ala2006=)	rs748935957
NM_017617.5(NOTCH1):c.608G>A (p.Arg203His)	rs182763411
NM_017617.5(NOTCH1):c.6109G>T (p.Ala2037Ser)	rs1060502237
NM_017617.5(NOTCH1):c.6180+9G>T	rs200371378
NM_017617.5(NOTCH1):c.620G>A (p.Arg207His)	rs779118023
NM_017617.5(NOTCH1):c.6284G>T (p.Arg2095Leu)	rs756874994
NM_017617.5(NOTCH1):c.6348C>G (p.Tyr2116Ter)	rs1057518661
NM_017617.5(NOTCH1):c.6375C>T (p.His2125=)	rs369009290
NM_017617.5(NOTCH1):c.6396G>C (p.Thr2132=)	rs554843595
NM_017617.5(NOTCH1):c.6397C>A (p.Pro2133Thr)	rs61733294
NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg)	rs116317506
NM_017617.5(NOTCH1):c.6570G>C (p.Leu2190=)	rs200630233
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.6666G>A (p.Pro2222=)	rs202229687
NM_017617.5(NOTCH1):c.672C>T (p.Pro224=)	rs777019253
NM_017617.5(NOTCH1):c.6739C>G (p.Leu2247Val)	rs377165086
NM_017617.5(NOTCH1):c.6739C>T (p.Leu2247=)	rs377165086
NM_017617.5(NOTCH1):c.6744C>G (p.Asn2248Lys)	rs372771288
NM_017617.5(NOTCH1):c.6767C>T (p.Ala2256Val)	rs759225800
NM_017617.5(NOTCH1):c.6851C>T (p.Thr2284Ile)	rs1341934554
NM_017617.5(NOTCH1):c.691G>A (p.Gly231Ser)	rs1247729687
NM_017617.5(NOTCH1):c.6966A>G (p.Gln2322=)	rs1318983291
NM_017617.5(NOTCH1):c.7096C>T (p.Gln2366Ter)
NM_017617.5(NOTCH1):c.7151A>G (p.Gln2384Arg)	rs1842918547
NM_017617.5(NOTCH1):c.7209G>C (p.Gln2403His)	rs61751486
NM_017617.5(NOTCH1):c.7232CAC[4] (p.Pro2415del)	rs762336270
NM_017617.5(NOTCH1):c.7311G>T (p.Glu2437Asp)	rs886039031
NM_017617.5(NOTCH1):c.750C>A (p.Thr250=)	rs375772590
NM_017617.5(NOTCH1):c.7575G>C (p.Pro2525=)	rs375576856
NM_019055.6(ROBO4):c.1146C>G (p.Tyr382Ter)	rs2135378156
NM_019055.6(ROBO4):c.1233T>A (p.His411Gln)	rs1565326476
NM_019055.6(ROBO4):c.1529A>T (p.Asp510Val)	rs1565325937
NM_019055.6(ROBO4):c.1601_1614del (p.Gly534fs)	rs755569942
NM_019055.6(ROBO4):c.1678C>T (p.Arg560Cys)
NM_019055.6(ROBO4):c.184A>G (p.Thr62Ala)
NM_019055.6(ROBO4):c.1900C>T (p.Arg634Cys)
NM_019055.6(ROBO4):c.2056+1G>T	rs764038221
NM_019055.6(ROBO4):c.2182C>T (p.Gln728Ter)
NM_019055.6(ROBO4):c.2245_2246delinsCT (p.Ala749Leu)	rs1565322176
NM_019055.6(ROBO4):c.2758G>A (p.Gly920Ser)
NM_019055.6(ROBO4):c.740T>C (p.Val247Ala)	rs779392207
NM_019055.6(ROBO4):c.746T>C (p.Leu249Pro)
NM_019055.6(ROBO4):c.980_981del (p.Ser327fs)
NM_181486.4(TBX5):c.100dup (p.Ala34fs)
NM_181486.4(TBX5):c.1010C>A (p.Pro337His)
NM_181486.4(TBX5):c.1012del (p.Tyr338fs)	rs2136360335
NM_181486.4(TBX5):c.101C>T (p.Ala34Val)	rs761952835
NM_181486.4(TBX5):c.1027A>G (p.Met343Val)
NM_181486.4(TBX5):c.102C>A (p.Ala34=)
NM_181486.4(TBX5):c.1037C>A (p.Ser346Ter)	rs2136360259
NM_181486.4(TBX5):c.1039C>T (p.Pro347Ser)
NM_181486.4(TBX5):c.105del (p.Ser36fs)	rs1057516042
NM_181486.4(TBX5):c.1077A>G (p.Pro359=)
NM_181486.4(TBX5):c.1098C>G (p.Ala366=)
NM_181486.4(TBX5):c.10G>A (p.Ala4Thr)	rs1319312312
NM_181486.4(TBX5):c.1104C>G (p.Tyr368Ter)	rs1565923835
NM_181486.4(TBX5):c.1114T>A (p.Ser372Thr)
NM_181486.4(TBX5):c.1115_1116delinsAGGCGCTCCTACA (p.Ser372Ter)	rs1593836748
NM_181486.4(TBX5):c.1135A>C (p.Met379Leu)
NM_181486.4(TBX5):c.1135A>T (p.Met379Leu)	rs759607221
NM_181486.4(TBX5):c.1140T>G (p.Tyr380Ter)
NM_181486.4(TBX5):c.1155C>T (p.Pro385=)
NM_181486.4(TBX5):c.1157C>A (p.Pro386His)	rs771857554
NM_181486.4(TBX5):c.115C>T (p.Pro39Ser)
NM_181486.4(TBX5):c.1161C>T (p.Ser387=)
NM_181486.4(TBX5):c.1165C>T (p.Pro389Ser)	rs1187747905
NM_181486.4(TBX5):c.1166C>A (p.Pro389His)
NM_181486.4(TBX5):c.116del (p.Pro39fs)
NM_181486.4(TBX5):c.117G>A (p.Pro39=)
NM_181486.4(TBX5):c.1203G>T (p.Trp401Cys)
NM_181486.4(TBX5):c.1206A>G (p.Pro402=)	rs763129045
NM_181486.4(TBX5):c.1233C>T (p.Thr411=)	rs188839350
NM_181486.4(TBX5):c.1242C>A (p.Thr414=)	rs370133092
NM_181486.4(TBX5):c.1243G>A (p.Val415Met)
NM_181486.4(TBX5):c.1282G>A (p.Ala428Thr)
NM_181486.4(TBX5):c.1332C>T (p.Asn444=)
NM_181486.4(TBX5):c.1429C>T (p.Gln477Ter)
NM_181486.4(TBX5):c.142C>T (p.Gln48Ter)	rs863223777
NM_181486.4(TBX5):c.1430A>G (p.Gln477Arg)
NM_181486.4(TBX5):c.1442C>T (p.Thr481Ile)
NM_181486.4(TBX5):c.1450C>T (p.Pro484Ser)
NM_181486.4(TBX5):c.1451C>A (p.Pro484His)	rs768644203
NM_181486.4(TBX5):c.147+13C>G
NM_181486.4(TBX5):c.147+8_147+10del	rs1593886226
NM_181486.4(TBX5):c.148-2A>C
NM_181486.4(TBX5):c.1485del (p.Thr496fs)
NM_181486.4(TBX5):c.1488T>C (p.Thr496=)
NM_181486.4(TBX5):c.1518C>T (p.His506=)
NM_181486.4(TBX5):c.1524T>C (p.Val508=)
NM_181486.4(TBX5):c.1544G>A (p.Ser515Asn)
NM_181486.4(TBX5):c.1545C>A (p.Ser515Arg)
NM_181486.4(TBX5):c.1546G>A (p.Asp516Asn)
NM_181486.4(TBX5):c.154G>T (p.Glu52Ter)	rs1208004863
NM_181486.4(TBX5):c.158G>A (p.Gly53Glu)
NM_181486.4(TBX5):c.163_172del (p.Lys55fs)	rs1593883930
NM_181486.4(TBX5):c.188T>G (p.Leu63Arg)
NM_181486.4(TBX5):c.216G>A (p.Thr72=)
NM_181486.4(TBX5):c.217G>C (p.Glu73Gln)
NM_181486.4(TBX5):c.225C>T (p.Ile75=)
NM_181486.4(TBX5):c.238_239delinsT (p.Ala79_Gly80insTer)	rs1871830996
NM_181486.4(TBX5):c.239G>A (p.Gly80Glu)	rs1871830806
NM_181486.4(TBX5):c.242+15T>C
NM_181486.4(TBX5):c.242+18G>A
NM_181486.4(TBX5):c.242G>A (p.Arg81Lys)
NM_181486.4(TBX5):c.243-13C>T
NM_181486.4(TBX5):c.243-1G>A	rs1871673582
NM_181486.4(TBX5):c.243-20_243-5del	rs2136418321
NM_181486.4(TBX5):c.243-2A>G	rs2136418310
NM_181486.4(TBX5):c.246G>T (p.Arg82=)
NM_181486.4(TBX5):c.246del (p.Met83fs)	rs1871673161
NM_181486.4(TBX5):c.249G>A (p.Met83Ile)
NM_181486.4(TBX5):c.252T>A (p.Phe84Leu)	rs2136418265
NM_181486.4(TBX5):c.260A>G (p.Tyr87Cys)	rs886039131
NM_181486.4(TBX5):c.264A>G (p.Lys88=)
NM_181486.4(TBX5):c.26G>A (p.Gly9Asp)
NM_181486.4(TBX5):c.278dup (p.Leu94fs)	rs1555226420
NM_181486.4(TBX5):c.286C>T (p.Pro96Ser)
NM_181486.4(TBX5):c.294G>T (p.Thr98=)
NM_181486.4(TBX5):c.29T>G (p.Leu10Arg)
NM_181486.4(TBX5):c.309_310delinsAC (p.Met104Leu)	rs2136418134
NM_181486.4(TBX5):c.341dup (p.Tyr114Ter)	rs2136418056
NM_181486.4(TBX5):c.362+13G>T
NM_181486.4(TBX5):c.362+2T>C	rs1593881162
NM_181486.4(TBX5):c.363-2A>G	rs1565941072
NM_181486.4(TBX5):c.375C>T (p.Gly125=)
NM_181486.4(TBX5):c.383_386dup (p.Met131fs)	rs2136416963
NM_181486.4(TBX5):c.38C>A (p.Thr13Lys)	rs763125466
NM_181486.4(TBX5):c.390del (p.Met131fs)	rs1565941046
NM_181486.4(TBX5):c.400del (p.Arg134fs)	rs1408227928
NM_181486.4(TBX5):c.401G>C (p.Arg134Pro)
NM_181486.4(TBX5):c.401G>T (p.Arg134Leu)
NM_181486.4(TBX5):c.408C>T (p.Tyr136=)
NM_181486.4(TBX5):c.422C>A (p.Ser141Tyr)	rs1871581681
NM_181486.4(TBX5):c.422C>G (p.Ser141Cys)
NM_181486.4(TBX5):c.432C>A (p.Thr144=)
NM_181486.4(TBX5):c.432dup (p.Gly145fs)	rs1555226322
NM_181486.4(TBX5):c.438G>C (p.Ala146=)
NM_181486.4(TBX5):c.443G>A (p.Trp148Ter)	rs1060503154
NM_181486.4(TBX5):c.456del (p.Val153fs)	rs1057520136
NM_181486.4(TBX5):c.462C>A (p.Ser154=)
NM_181486.4(TBX5):c.476A>C (p.Lys159Thr)	rs2136416640
NM_181486.4(TBX5):c.479T>C (p.Leu160Pro)
NM_181486.4(TBX5):c.481A>T (p.Thr161Ser)	rs2136416621
NM_181486.4(TBX5):c.482C>T (p.Thr161Ile)
NM_181486.4(TBX5):c.484A>G (p.Asn162Asp)	rs1871568678
NM_181486.4(TBX5):c.486C>A (p.Asn162Lys)	rs2136416601
NM_181486.4(TBX5):c.492C>G (p.His164Gln)
NM_181486.4(TBX5):c.503T>C (p.Phe168Ser)
NM_181486.4(TBX5):c.510+5G>A	rs1555226301
NM_181486.4(TBX5):c.510+8C>A
NM_181486.4(TBX5):c.511-1G>C	rs2136411098
NM_181486.4(TBX5):c.511-1del
NM_181486.4(TBX5):c.511-9del	rs775035000
NM_181486.4(TBX5):c.529C>T (p.His177Tyr)
NM_181486.4(TBX5):c.537C>T (p.Tyr179=)
NM_181486.4(TBX5):c.555C>T (p.Ile185=)	rs142631741
NM_181486.4(TBX5):c.557T>G (p.Val186Gly)	rs1555226019
NM_181486.4(TBX5):c.564G>A (p.Ala188=)	rs745378130
NM_181486.4(TBX5):c.564G>T (p.Ala188=)
NM_181486.4(TBX5):c.57A>C (p.Ala19=)	rs567785340
NM_181486.4(TBX5):c.587C>A (p.Ser196Ter)	rs886041247
NM_181486.4(TBX5):c.593del (p.Asn198fs)	rs1565939215
NM_181486.4(TBX5):c.593dup (p.Asn198fs)
NM_181486.4(TBX5):c.594dup (p.Thr199fs)
NM_181486.4(TBX5):c.595dup (p.Thr199fs)	rs1555226005
NM_181486.4(TBX5):c.611dup (p.His204fs)	rs863223786
NM_181486.4(TBX5):c.613G>A (p.Val205Ile)
NM_181486.4(TBX5):c.613G>T (p.Val205Phe)	rs190881877
NM_181486.4(TBX5):c.627T>C (p.Thr209=)
NM_181486.4(TBX5):c.628_645del (p.Ala210_Thr215del)
NM_181486.4(TBX5):c.629_632dup (p.Ile212fs)	rs1555225989
NM_181486.4(TBX5):c.652C>T (p.Gln218Ter)	rs2136410724
NM_181486.4(TBX5):c.658_660del (p.His220del)	rs1871328960
NM_181486.4(TBX5):c.663+16A>G	rs752606041
NM_181486.4(TBX5):c.663+1G>A	rs1871328488
NM_181486.4(TBX5):c.663+6C>G
NM_181486.4(TBX5):c.668C>T (p.Thr223Met)	rs1555225344
NM_181486.4(TBX5):c.691C>T (p.Pro231Ser)	rs2136397905
NM_181486.4(TBX5):c.698C>T (p.Ala233Val)	rs1870766147
NM_181486.4(TBX5):c.69del (p.Cys24fs)	rs1872004016
NM_181486.4(TBX5):c.6C>G (p.Ala2=)
NM_181486.4(TBX5):c.709C>T (p.Arg237Trp)	rs104894382
NM_181486.4(TBX5):c.717T>C (p.Ser239=)
NM_181486.4(TBX5):c.719A>G (p.Asp240Gly)
NM_181486.4(TBX5):c.723C>T (p.Asp241=)
NM_181486.4(TBX5):c.727del (p.Glu243fs)	rs1870762150
NM_181486.4(TBX5):c.730C>T (p.Leu244=)
NM_181486.4(TBX5):c.731T>C (p.Leu244Pro)
NM_181486.4(TBX5):c.736A>C (p.Arg246=)
NM_181486.4(TBX5):c.736A>G (p.Arg246Gly)
NM_181486.4(TBX5):c.755+11G>A
NM_181486.4(TBX5):c.755+17del	rs1412151452
NM_181486.4(TBX5):c.755+1G>A
NM_181486.4(TBX5):c.755+1G>T	rs2136397746
NM_181486.4(TBX5):c.755+4G>A
NM_181486.4(TBX5):c.755G>T (p.Ser252Ile)	rs863223776
NM_181486.4(TBX5):c.756-2A>G	rs1869545659
NM_181486.4(TBX5):c.760G>T (p.Glu254Ter)	rs2136373802
NM_181486.4(TBX5):c.765T>A (p.Tyr255Ter)	rs2136373795
NM_181486.4(TBX5):c.813_814del (p.His271fs)	rs1869539814
NM_181486.4(TBX5):c.835C>T (p.Arg279Ter)	rs863223788
NM_181486.4(TBX5):c.841C>G (p.Leu281Val)	rs760177359
NM_181486.4(TBX5):c.842T>G (p.Leu281Arg)
NM_181486.4(TBX5):c.853_865del (p.Ser285fs)
NM_181486.4(TBX5):c.855C>T (p.Ser285=)
NM_181486.4(TBX5):c.862G>A (p.Gly288Arg)
NM_181486.4(TBX5):c.864G>A (p.Gly288=)
NM_181486.4(TBX5):c.868C>T (p.Gln290Ter)	rs1565927747
NM_181486.4(TBX5):c.884del (p.Asn295fs)
NM_181486.4(TBX5):c.894C>T (p.Ser298=)
NM_181486.4(TBX5):c.90C>A (p.Ser30Arg)
NM_181486.4(TBX5):c.914T>C (p.Leu305Pro)
NM_181486.4(TBX5):c.920del (p.Pro307fs)
NM_181486.4(TBX5):c.926_927del (p.Asn309fs)	rs1593847163
NM_181486.4(TBX5):c.927C>A (p.Asn309Lys)
NM_181486.4(TBX5):c.937C>G (p.Leu313Val)
NM_181486.4(TBX5):c.944A>G (p.Gln315Arg)
NM_181486.4(TBX5):c.958del (p.Ile320fs)	rs878853750
NM_181486.4(TBX5):c.982+11T>G
NM_181486.4(TBX5):c.982+14C>T
NM_181486.4(TBX5):c.982+1G>A	rs2136373207
NM_181486.4(TBX5):c.982+20G>A	rs1231635306
NM_181486.4(TBX5):c.982+2T>G	rs2136373205
NM_181486.4(TBX5):c.983-13C>T
NM_181486.4(TBX5):c.983-8C>T
NOTCH1, PRO1797HIS

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