NM_017617.5(NOTCH1):c.312T>C (p.Asn104=)
|
rs4489420
|
0.62688
|
NM_017617.5(NOTCH1):c.1555+10A>G
|
rs11145767
|
0.47945
|
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.3836G>A (p.Arg1279His)
|
rs61751543
|
0.01655
|
NM_017617.5(NOTCH1):c.2468-19G>A
|
rs116515776
|
0.01328
|
NM_000501.4(ELN):c.427+8C>T
|
rs55868272
|
0.01032
|
NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=)
|
rs148331061
|
0.00992
|
NM_000501.4(ELN):c.1622-13C>T
|
rs41362346
|
0.00728
|
NM_017617.5(NOTCH1):c.873C>T (p.Tyr291=)
|
rs143654474
|
0.00477
|
NM_000501.4(ELN):c.*429C>T
|
rs62476387
|
0.00365
|
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_019055.6(ROBO4):c.1985G>A (p.Gly662Asp)
|
rs145067866
|
0.00297
|
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_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp)
|
rs201620358
|
0.00223
|
NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=)
|
rs376744729
|
0.00178
|
NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn)
|
rs191357265
|
0.00156
|
NM_005585.5(SMAD6):c.79A>G (p.Ser27Gly)
|
rs374058045
|
0.00142
|
NM_000501.4(ELN):c.1358-253G>A
|
rs370619098
|
0.00136
|
NM_005585.5(SMAD6):c.336C>A (p.Gly112=)
|
rs371330988
|
0.00123
|
NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val)
|
rs188270459
|
0.00115
|
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_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.1389C>T (p.Asn463=)
|
rs61733293
|
0.00068
|
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_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.5781G>A (p.Thr1927=)
|
rs367587437
|
0.00051
|
NM_017617.5(NOTCH1):c.6108C>T (p.Ala2036=)
|
rs369167693
|
0.00051
|
NM_181486.4(TBX5):c.827G>A (p.Ser276Asn)
|
rs147977741
|
0.00049
|
NM_000501.4(ELN):c.1697C>T (p.Ala566Val)
|
rs138876104
|
0.00043
|
NM_005585.5(SMAD6):c.1029G>T (p.Val343=)
|
rs139975027
|
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_000501.4(ELN):c.1358-225T>C
|
rs375867140
|
0.00036
|
NM_017617.5(NOTCH1):c.6636C>T (p.Asp2212=)
|
rs370606059
|
0.00035
|
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_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser)
|
rs201077220
|
0.00034
|
NM_000501.4(ELN):c.2109C>T (p.Phe703=)
|
rs149755814
|
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_053025.4(MYLK):c.4844C>T (p.Ala1615Val)
|
rs202177283
|
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.1747+109A>G
|
rs782414975
|
0.00029
|
NM_005585.5(SMAD6):c.858C>T (p.Asp286=)
|
rs141679164
|
0.00028
|
NM_017617.5(NOTCH1):c.5638+19A>G
|
rs368675083
|
0.00026
|
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_005585.5(SMAD6):c.240G>A (p.Ala80=)
|
rs937555039
|
0.00023
|
NM_017617.5(NOTCH1):c.6975T>C (p.Pro2325=)
|
rs200814776
|
0.00023
|
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_017617.5(NOTCH1):c.6685G>A (p.Val2229Met)
|
rs202096917
|
0.00021
|
NM_000501.4(ELN):c.1994-7T>G
|
rs375277198
|
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.381G>A (p.Ala127=)
|
rs148216123
|
0.00019
|
NM_000501.4(ELN):c.949+14G>A
|
rs200929398
|
0.00019
|
NM_017617.5(NOTCH1):c.2353+13C>T
|
rs200756000
|
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_181486.4(TBX5):c.600G>T (p.Ala200=)
|
rs139329918
|
0.00019
|
NM_181486.4(TBX5):c.68C>A (p.Pro23His)
|
rs141609745
|
0.00019
|
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_005585.5(SMAD6):c.636C>T (p.Asp212=)
|
rs575612166
|
0.00017
|
NM_017617.5(NOTCH1):c.2427C>T (p.Asp809=)
|
rs775162462
|
0.00017
|
NM_000501.4(ELN):c.249C>T (p.Pro83=)
|
rs565001805
|
0.00016
|
NM_017617.5(NOTCH1):c.2148G>A (p.Glu716=)
|
rs376468003
|
0.00016
|
NM_017617.5(NOTCH1):c.2718C>T (p.Thr906=)
|
rs200243788
|
0.00016
|
NM_017617.5(NOTCH1):c.3288G>C (p.Val1096=)
|
rs374944458
|
0.00016
|
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_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.1317C>T (p.Pro439=)
|
rs201861098
|
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.4905C>T (p.Ala1635=)
|
rs751446074
|
0.00014
|
NM_181486.4(TBX5):c.834T>C (p.Ser278=)
|
rs142609815
|
0.00014
|
NM_005585.5(SMAD6):c.375C>T (p.Thr125=)
|
rs767379771
|
0.00013
|
NM_000501.4(ELN):c.196+18G>A
|
rs374473857
|
0.00012
|
NM_000501.4(ELN):c.710G>C (p.Gly237Ala)
|
rs934014841
|
0.00012
|
NM_017617.5(NOTCH1):c.2805C>T (p.Pro935=)
|
rs200332386
|
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.717G>A (p.Ala239=)
|
rs782502253
|
0.00011
|
NM_005585.5(SMAD6):c.75C>T (p.Gly25=)
|
rs755856670
|
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_000501.4(ELN):c.460G>A (p.Val154Met)
|
rs145669576
|
0.00010
|
NM_005585.5(SMAD6):c.141G>A (p.Pro47=)
|
rs1004603974
|
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.390G>A (p.Pro130=)
|
rs61751559
|
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_005585.5(SMAD6):c.1191C>T (p.Pro397=)
|
rs551875695
|
0.00009
|
NM_005585.5(SMAD6):c.414C>T (p.Pro138=)
|
rs1352636701
|
0.00009
|
NM_017617.5(NOTCH1):c.3966C>T (p.Cys1322=)
|
rs753290862
|
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.4860C>T (p.Tyr1620=)
|
rs375196212
|
0.00009
|
NM_017617.5(NOTCH1):c.5018+14G>A
|
rs936227030
|
0.00009
|
NM_017617.5(NOTCH1):c.5019-6G>A
|
rs978561896
|
0.00009
|
NM_017617.5(NOTCH1):c.6083-5C>T
|
rs199786076
|
0.00009
|
NM_181486.4(TBX5):c.147+9A>T
|
rs375693592
|
0.00009
|
NM_017617.5(NOTCH1):c.2724C>T (p.Ile908=)
|
rs61751547
|
0.00008
|
NM_017617.5(NOTCH1):c.5018+13C>T
|
rs752508890
|
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.240C>T (p.Gly80=)
|
rs138649857
|
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_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.4101G>A (p.Pro1367=)
|
rs374921637
|
0.00007
|
NM_017617.5(NOTCH1):c.4506C>T (p.Asp1502=)
|
rs751191827
|
0.00007
|
NM_017617.5(NOTCH1):c.4551C>T (p.Asp1517=)
|
rs766737406
|
0.00007
|
NM_181486.4(TBX5):c.1116G>A (p.Ser372=)
|
rs763827720
|
0.00007
|
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.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.2060G>A (p.Gly687Glu)
|
rs139547471
|
0.00006
|
NM_000501.4(ELN):c.483C>T (p.Pro161=)
|
rs150690195
|
0.00006
|
NM_000501.4(ELN):c.886G>A (p.Ala296Thr)
|
rs782335529
|
0.00006
|
NM_005585.5(SMAD6):c.180C>G (p.Val60=)
|
rs981335329
|
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.2292C>T (p.Asn764=)
|
rs775201110
|
0.00006
|
NM_017617.5(NOTCH1):c.2588-16T>G
|
rs781139940
|
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.404-13C>G
|
rs766360723
|
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.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.7251G>A (p.Pro2417=)
|
rs368498380
|
0.00006
|
NM_017617.5(NOTCH1):c.7413G>A (p.Ser2471=)
|
rs367706382
|
0.00006
|
NM_017617.5(NOTCH1):c.7425C>T (p.Pro2475=)
|
rs772308416
|
0.00006
|
NM_181486.4(TBX5):c.1293C>G (p.Thr431=)
|
rs143971376
|
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_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_017617.5(NOTCH1):c.1125A>G (p.Ala375=)
|
rs371954544
|
0.00005
|
NM_017617.5(NOTCH1):c.2355T>C (p.Gly785=)
|
rs199719103
|
0.00005
|
NM_017617.5(NOTCH1):c.3326-16A>T
|
rs374731388
|
0.00005
|
NM_017617.5(NOTCH1):c.5100C>T (p.Ala1700=)
|
rs376495459
|
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_000501.4(ELN):c.1287C>T (p.Val429=)
|
rs200666061
|
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.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.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.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.528G>A (p.Lys176=)
|
rs782412839
|
0.00004
|
NM_000501.4(ELN):c.696C>T (p.Pro232=)
|
rs148054981
|
0.00004
|
NM_005585.5(SMAD6):c.1206C>G (p.Ala402=)
|
rs565415984
|
0.00004
|
NM_005585.5(SMAD6):c.855C>T (p.Arg285=)
|
rs774721819
|
0.00004
|
NM_017617.5(NOTCH1):c.1272G>A (p.Glu424=)
|
rs377342874
|
0.00004
|
NM_017617.5(NOTCH1):c.1903+10C>G
|
rs375704312
|
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.3918C>T (p.Ser1306=)
|
rs770781173
|
0.00004
|
NM_017617.5(NOTCH1):c.4143C>T (p.Pro1381=)
|
rs539950718
|
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.5070G>A (p.Ser1690=)
|
rs370200858
|
0.00004
|
NM_017617.5(NOTCH1):c.5421C>T (p.Asp1807=)
|
rs376590737
|
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.597C>T (p.Val199=)
|
rs747342494
|
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.7569G>A (p.Ser2523=)
|
rs534623042
|
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_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.1994-13C>T
|
rs532271061
|
0.00003
|
NM_000501.4(ELN):c.470-8C>G
|
rs781877758
|
0.00003
|
NM_000501.4(ELN):c.799+10C>T
|
rs781812932
|
0.00003
|
NM_005585.5(SMAD6):c.1173C>T (p.Ile391=)
|
rs1215677844
|
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_017617.5(NOTCH1):c.1446C>T (p.Tyr482=)
|
rs757373430
|
0.00003
|
NM_017617.5(NOTCH1):c.210C>T (p.Asn70=)
|
rs763414200
|
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.3405G>A (p.Ala1135=)
|
rs192914380
|
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.3860G>A (p.Arg1287His)
|
rs763679772
|
0.00003
|
NM_017617.5(NOTCH1):c.3901+10G>A
|
rs561404862
|
0.00003
|
NM_017617.5(NOTCH1):c.4015-7C>T
|
rs761783451
|
0.00003
|
NM_017617.5(NOTCH1):c.411G>A (p.Ser137=)
|
rs560826996
|
0.00003
|
NM_017617.5(NOTCH1):c.4713C>T (p.Ala1571=)
|
rs377357743
|
0.00003
|
NM_017617.5(NOTCH1):c.5103A>G (p.Ala1701=)
|
rs776610176
|
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.621C>T (p.Arg207=)
|
rs756164624
|
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_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.242+9G>T
|
rs186666277
|
0.00003
|
NM_181486.4(TBX5):c.276G>C (p.Thr92=)
|
rs773971213
|
0.00003
|
NM_181486.4(TBX5):c.363-6A>G
|
rs757819289
|
0.00003
|
NM_000501.4(ELN):c.1299G>A (p.Pro433=)
|
rs367742656
|
0.00002
|
NM_000501.4(ELN):c.1434C>T (p.Gly478=)
|
rs781926084
|
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.2131+14C>T
|
rs782790041
|
0.00002
|
NM_000501.4(ELN):c.2132-6G>A
|
rs781831349
|
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.800-12C>G
|
rs370561295
|
0.00002
|
NM_005585.5(SMAD6):c.135G>A (p.Pro45=)
|
rs868172579
|
0.00002
|
NM_005585.5(SMAD6):c.618G>A (p.Val206=)
|
rs776635009
|
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_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.2112C>T (p.Cys704=)
|
rs757495549
|
0.00002
|
NM_017617.5(NOTCH1):c.3099C>T (p.Gly1033=)
|
rs775567314
|
0.00002
|
NM_017617.5(NOTCH1):c.3172-12A>G
|
rs547259185
|
0.00002
|
NM_017617.5(NOTCH1):c.3861C>T (p.Arg1287=)
|
rs758031388
|
0.00002
|
NM_017617.5(NOTCH1):c.4746G>A (p.Pro1582=)
|
rs886038974
|
0.00002
|
NM_017617.5(NOTCH1):c.5916C>T (p.Asp1972=)
|
rs1045892978
|
0.00002
|
NM_017617.5(NOTCH1):c.6069C>T (p.Ala2023=)
|
rs375920679
|
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_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_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.1191C>T (p.Tyr397=)
|
rs782798160
|
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.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.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.1506C>T (p.Gly502=)
|
rs533649697
|
0.00001
|
NM_000501.4(ELN):c.1577-4T>C
|
rs1554683264
|
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+92A>C
|
rs782216165
|
0.00001
|
NM_000501.4(ELN):c.1787-8C>G
|
rs782713818
|
0.00001
|
NM_000501.4(ELN):c.1869C>T (p.Pro623=)
|
rs530876235
|
0.00001
|
NM_000501.4(ELN):c.1956C>T (p.Val652=)
|
rs1469217967
|
0.00001
|
NM_000501.4(ELN):c.2086+8del
|
rs782078342
|
0.00001
|
NM_000501.4(ELN):c.42C>T (p.Leu14=)
|
rs1554660052
|
0.00001
|
NM_000501.4(ELN):c.6G>A (p.Ala2=)
|
rs782540463
|
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_005343.4(HRAS):c.277A>G (p.Ile93Val)
|
rs587782949
|
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.1257G>A (p.Ala419=)
|
rs771448780
|
0.00001
|
NM_005585.5(SMAD6):c.1347G>T (p.Ala449=)
|
rs764124420
|
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.25C>T (p.Leu9=)
|
rs1055162146
|
0.00001
|
NM_005585.5(SMAD6):c.267C>T (p.Pro89=)
|
rs896888252
|
0.00001
|
NM_005585.5(SMAD6):c.351C>T (p.Pro117=)
|
rs770962715
|
0.00001
|
NM_005585.5(SMAD6):c.384C>T (p.Leu128=)
|
rs752593472
|
0.00001
|
NM_005585.5(SMAD6):c.411G>C (p.Ala137=)
|
rs1555434217
|
0.00001
|
NM_005585.5(SMAD6):c.477C>G (p.Arg159=)
|
rs1278854033
|
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.606G>A (p.Pro202=)
|
rs892811980
|
0.00001
|
NM_005585.5(SMAD6):c.642C>G (p.Arg214=)
|
rs1392322147
|
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.765C>T (p.Asp255=)
|
rs1375800482
|
0.00001
|
NM_005585.5(SMAD6):c.768C>G (p.Gly256=)
|
rs770427556
|
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.887C>T (p.Ser296Phe)
|
rs200374822
|
0.00001
|
NM_005585.5(SMAD6):c.891A>G (p.Thr297=)
|
rs759799681
|
0.00001
|
NM_005585.5(SMAD6):c.952+8T>C
|
rs749303894
|
0.00001
|
NM_017617.5(NOTCH1):c.1099+9C>T
|
rs1057523772
|
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.1581C>T (p.Tyr527=)
|
rs1299929890
|
0.00001
|
NM_017617.5(NOTCH1):c.1788G>A (p.Thr596=)
|
rs925293836
|
0.00001
|
NM_017617.5(NOTCH1):c.2745G>A (p.Pro915=)
|
rs766331471
|
0.00001
|
NM_017617.5(NOTCH1):c.3441C>T (p.Asp1147=)
|
rs377488165
|
0.00001
|
NM_017617.5(NOTCH1):c.351C>T (p.Cys117=)
|
rs768642611
|
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.3723C>T (p.Asn1241=)
|
rs369637862
|
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.4410C>T (p.His1470=)
|
rs750183248
|
0.00001
|
NM_017617.5(NOTCH1):c.4428C>T (p.Gly1476=)
|
rs765751888
|
0.00001
|
NM_017617.5(NOTCH1):c.4710G>A (p.Ala1570=)
|
rs773978978
|
0.00001
|
NM_017617.5(NOTCH1):c.4719G>A (p.Thr1573=)
|
rs775105774
|
0.00001
|
NM_017617.5(NOTCH1):c.5160C>T (p.Ala1720=)
|
rs780625273
|
0.00001
|
NM_017617.5(NOTCH1):c.5184G>A (p.Pro1728=)
|
rs760548371
|
0.00001
|
NM_017617.5(NOTCH1):c.5595T>A (p.Gly1865=)
|
rs767493892
|
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.6408G>A (p.Ser2136=)
|
rs933773128
|
0.00001
|
NM_017617.5(NOTCH1):c.687C>T (p.Asn229=)
|
rs535217359
|
0.00001
|
NM_017617.5(NOTCH1):c.7075C>T (p.Leu2359=)
|
rs374362224
|
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.1380C>T (p.Ser460=)
|
rs575162861
|
0.00001
|
NM_181486.4(TBX5):c.1413G>A (p.Gly471=)
|
rs764756835
|
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.579A>G (p.Gly193=)
|
rs967802452
|
0.00001
|
NM_181486.4(TBX5):c.664-14C>T
|
rs751285432
|
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_000501.4(ELN):c.1020C>T (p.Gly340=)
|
rs782012004
|
|
NM_000501.4(ELN):c.1041A>T (p.Pro347=)
|
|
|
NM_000501.4(ELN):c.1086T>C (p.Ala362=)
|
|
|
NM_000501.4(ELN):c.1096+12TG[24]
|
rs10579871
|
|
NM_000501.4(ELN):c.1096+9G>C
|
rs1554677524
|
|
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.1170A>G (p.Gly390=)
|
rs1060504936
|
|
NM_000501.4(ELN):c.117A>T (p.Gly39=)
|
|
|
NM_000501.4(ELN):c.1185T>G (p.Pro395=)
|
|
|
NM_000501.4(ELN):c.1194G>A (p.Gly398=)
|
|
|
NM_000501.4(ELN):c.1215C>T (p.Pro405=)
|
|
|
NM_000501.4(ELN):c.1227C>A (p.Val409=)
|
|
|
NM_000501.4(ELN):c.1251C>T (p.Val417=)
|
rs782315685
|
|
NM_000501.4(ELN):c.1263_1264inv (p.Gly422Ser)
|
|
|
NM_000501.4(ELN):c.1269C>G (p.Val423=)
|
rs61734583
|
|
NM_000501.4(ELN):c.1316-13C>T
|
|
|
NM_000501.4(ELN):c.133+16C>T
|
rs144223231
|
|
NM_000501.4(ELN):c.134-5C>G
|
rs202142516
|
|
NM_000501.4(ELN):c.134-5C>T
|
|
|
NM_000501.4(ELN):c.134-7C>A
|
rs782721415
|
|
NM_000501.4(ELN):c.134-7C>T
|
|
|
NM_000501.4(ELN):c.1358-18T>A
|
|
|
NM_000501.4(ELN):c.1358-191G>A
|
|
|
NM_000501.4(ELN):c.1358-218T>G
|
|
|
NM_000501.4(ELN):c.1358-262C>T
|
|
|
NM_000501.4(ELN):c.1358-276A>G
|
|
|
NM_000501.4(ELN):c.138T>C (p.Ala46=)
|
|
|
NM_000501.4(ELN):c.1395C>T (p.Ala465=)
|
|
|
NM_000501.4(ELN):c.1407C>A (p.Ala469=)
|
|
|
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+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.144C>T (p.Leu48=)
|
|
|
NM_000501.4(ELN):c.1509G>T (p.Val503=)
|
|
|
NM_000501.4(ELN):c.1524T>C (p.Gly508=)
|
|
|
NM_000501.4(ELN):c.1536C>T (p.Gly512=)
|
|
|
NM_000501.4(ELN):c.1542C>T (p.Gly514=)
|
|
|
NM_000501.4(ELN):c.1576+10A>G
|
|
|
NM_000501.4(ELN):c.1576+8T>C
|
|
|
NM_000501.4(ELN):c.1577-9C>G
|
|
|
NM_000501.4(ELN):c.15G>A (p.Thr5=)
|
|
|
NM_000501.4(ELN):c.1621+11C>T
|
|
|
NM_000501.4(ELN):c.1668T>C (p.Gly556=)
|
|
|
NM_000501.4(ELN):c.1683ACTTGGAGTTGGTGCTGGTGTTCCTGG[1] (p.562LGVGAGVPG[1])
|
rs782739997
|
|
NM_000501.4(ELN):c.1740C>T (p.Phe580=)
|
|
|
NM_000501.4(ELN):c.1741G>A (p.Gly581Arg)
|
|
|
NM_000501.4(ELN):c.1747+105T>G
|
rs536262259
|
|
NM_000501.4(ELN):c.1747+107G>C
|
|
|
NM_000501.4(ELN):c.1747+32C>T
|
|
|
NM_000501.4(ELN):c.1747+56C>T
|
|
|
NM_000501.4(ELN):c.1747+86C>T
|
|
|
NM_000501.4(ELN):c.1747+89A>G
|
|
|
NM_000501.4(ELN):c.1758C>T (p.Ala586=)
|
|
|
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.1819G>C (p.Gly607Arg)
|
rs781963804
|
|
NM_000501.4(ELN):c.1827C>T (p.Leu609=)
|
|
|
NM_000501.4(ELN):c.1848C>T (p.Gly616=)
|
|
|
NM_000501.4(ELN):c.1858+16A>G
|
|
|
NM_000501.4(ELN):c.1859-7T>C
|
|
|
NM_000501.4(ELN):c.1863C>T (p.Ala621=)
|
|
|
NM_000501.4(ELN):c.1881T>A (p.Ala627=)
|
|
|
NM_000501.4(ELN):c.18G>C (p.Ala6=)
|
|
|
NM_000501.4(ELN):c.192G>A (p.Lys64=)
|
|
|
NM_000501.4(ELN):c.1941C>T (p.Leu647=)
|
|
|
NM_000501.4(ELN):c.1946_1954dup (p.646GLG[3])
|
rs374813147
|
|
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.197-9T>C
|
|
|
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.2033-11C>T
|
|
|
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.2087-4G>A
|
|
|
NM_000501.4(ELN):c.2106C>A (p.Gly702=)
|
|
|
NM_000501.4(ELN):c.2124T>C (p.Ile708=)
|
|
|
NM_000501.4(ELN):c.2131+10G>A
|
|
|
NM_000501.4(ELN):c.2148G>C (p.Gly716=)
|
rs782642175
|
|
NM_000501.4(ELN):c.2154T>C (p.Ala718=)
|
|
|
NM_000501.4(ELN):c.2161C>A (p.Arg721=)
|
|
|
NM_000501.4(ELN):c.232+14C>G
|
|
|
NM_000501.4(ELN):c.233-9C>T
|
|
|
NM_000501.4(ELN):c.294C>T (p.Asp98=)
|
|
|
NM_000501.4(ELN):c.326-16T>C
|
|
|
NM_000501.4(ELN):c.327C>T (p.Gly109=)
|
|
|
NM_000501.4(ELN):c.328G>A (p.Ala110Thr)
|
rs137953195
|
|
NM_000501.4(ELN):c.33C>T (p.Pro11=)
|
|
|
NM_000501.4(ELN):c.369G>A (p.Val123=)
|
|
|
NM_000501.4(ELN):c.376+18G>A
|
|
|
NM_000501.4(ELN):c.377-14C>T
|
|
|
NM_000501.4(ELN):c.377-16G>A
|
|
|
NM_000501.4(ELN):c.384G>T (p.Val128=)
|
|
|
NM_000501.4(ELN):c.402C>T (p.Ala134=)
|
|
|
NM_000501.4(ELN):c.427+11A>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.441A>C (p.Pro147=)
|
|
|
NM_000501.4(ELN):c.45G>A (p.Leu15=)
|
rs1787872217
|
|
NM_000501.4(ELN):c.470-10C>T
|
rs200663056
|
|
NM_000501.4(ELN):c.470-6C>T
|
|
|
NM_000501.4(ELN):c.483C>A (p.Pro161=)
|
rs150690195
|
|
NM_000501.4(ELN):c.48C>G (p.Leu16=)
|
|
|
NM_000501.4(ELN):c.541+14T>C
|
|
|
NM_000501.4(ELN):c.542-10A>G
|
|
|
NM_000501.4(ELN):c.572-19G>A
|
|
|
NM_000501.4(ELN):c.585T>C (p.Phe195=)
|
|
|
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.643+15C>T
|
|
|
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.685+11C>A
|
|
|
NM_000501.4(ELN):c.685+18A>G
|
|
|
NM_000501.4(ELN):c.686-18A>G
|
|
|
NM_000501.4(ELN):c.69C>T (p.Pro23=)
|
|
|
NM_000501.4(ELN):c.6G>C (p.Ala2=)
|
|
|
NM_000501.4(ELN):c.705G>A (p.Val235=)
|
|
|
NM_000501.4(ELN):c.726T>C (p.Ala242=)
|
|
|
NM_000501.4(ELN):c.745+16C>T
|
|
|
NM_000501.4(ELN):c.746-7C>T
|
|
|
NM_000501.4(ELN):c.786A>T (p.Ala262=)
|
rs782342976
|
|
NM_000501.4(ELN):c.813C>T (p.Ala271=)
|
|
|
NM_000501.4(ELN):c.82+13C>T
|
|
|
NM_000501.4(ELN):c.82+14G>A
|
|
|
NM_000501.4(ELN):c.83-18C>T
|
|
|
NM_000501.4(ELN):c.83-20C>T
|
|
|
NM_000501.4(ELN):c.858T>A (p.Pro286=)
|
|
|
NM_000501.4(ELN):c.87C>T (p.Val29=)
|
|
|
NM_000501.4(ELN):c.889+16G>A
|
|
|
NM_000501.4(ELN):c.889+20G>T
|
|
|
NM_000501.4(ELN):c.891C>T (p.Gly297=)
|
|
|
NM_000501.4(ELN):c.930C>G (p.Ala310=)
|
|
|
NM_000501.4(ELN):c.949+11C>T
|
|
|
NM_000501.4(ELN):c.949+13C>G
|
|
|
NM_000501.4(ELN):c.949+9C>T
|
|
|
NM_000501.4(ELN):c.993G>A (p.Pro331=)
|
rs371757750
|
|
NM_005585.5(SMAD6):c.1005G>A (p.Ala335=)
|
|
|
NM_005585.5(SMAD6):c.102C>T (p.Asp34=)
|
rs1197212804
|
|
NM_005585.5(SMAD6):c.1050C>T (p.Tyr350=)
|
|
|
NM_005585.5(SMAD6):c.1053C>T (p.Asp351=)
|
rs1166776083
|
|
NM_005585.5(SMAD6):c.1059C>T (p.Ala353=)
|
|
|
NM_005585.5(SMAD6):c.1068C>T (p.Ile356=)
|
|
|
NM_005585.5(SMAD6):c.1101C>T (p.Cys367=)
|
|
|
NM_005585.5(SMAD6):c.1119G>C (p.Leu373=)
|
|
|
NM_005585.5(SMAD6):c.1125G>A (p.Gln375=)
|
|
|
NM_005585.5(SMAD6):c.1236C>T (p.Val412=)
|
|
|
NM_005585.5(SMAD6):c.1242C>G (p.Ser414=)
|
rs1469006490
|
|
NM_005585.5(SMAD6):c.1245G>A (p.Pro415=)
|
|
|
NM_005585.5(SMAD6):c.1263C>T (p.Gly421=)
|
|
|
NM_005585.5(SMAD6):c.1278C>T (p.Val426=)
|
|
|
NM_005585.5(SMAD6):c.1299C>G (p.Gly433=)
|
|
|
NM_005585.5(SMAD6):c.12C>T (p.Ser4=)
|
|
|
NM_005585.5(SMAD6):c.1311G>A (p.Lys437=)
|
|
|
NM_005585.5(SMAD6):c.1350C>T (p.Pro450=)
|
|
|
NM_005585.5(SMAD6):c.135G>C (p.Pro45=)
|
rs868172579
|
|
NM_005585.5(SMAD6):c.1362C>T (p.Ala454=)
|
rs749785381
|
|
NM_005585.5(SMAD6):c.1389C>T (p.Ser463=)
|
|
|
NM_005585.5(SMAD6):c.1479C>T (p.Asn493=)
|
|
|
NM_005585.5(SMAD6):c.153G>A (p.Glu51=)
|
|
|
NM_005585.5(SMAD6):c.168C>T (p.Gly56=)
|
|
|
NM_005585.5(SMAD6):c.171C>G (p.Arg57=)
|
rs753456441
|
|
NM_005585.5(SMAD6):c.178G>T (p.Val60Phe)
|
|
|
NM_005585.5(SMAD6):c.18C>G (p.Arg6=)
|
|
|
NM_005585.5(SMAD6):c.192C>G (p.Ala64=)
|
rs1242699041
|
|
NM_005585.5(SMAD6):c.201G>A (p.Arg67=)
|
rs2140580891
|
|
NM_005585.5(SMAD6):c.204C>T (p.Pro68=)
|
|
|
NM_005585.5(SMAD6):c.210C>T (p.Asp70=)
|
|
|
NM_005585.5(SMAD6):c.21G>A (p.Ser7=)
|
rs2140580360
|
|
NM_005585.5(SMAD6):c.240G>C (p.Ala80=)
|
|
|
NM_005585.5(SMAD6):c.249C>G (p.Arg83=)
|
|
|
NM_005585.5(SMAD6):c.249C>T (p.Arg83=)
|
|
|
NM_005585.5(SMAD6):c.261G>A (p.Gly87=)
|
rs1595756699
|
|
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.270G>A (p.Pro90=)
|
|
|
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.291G>C (p.Gly97=)
|
rs1454366386
|
|
NM_005585.5(SMAD6):c.310C>T (p.Leu104=)
|
|
|
NM_005585.5(SMAD6):c.339G>C (p.Pro113=)
|
|
|
NM_005585.5(SMAD6):c.342C>T (p.Gly114=)
|
|
|
NM_005585.5(SMAD6):c.390G>C (p.Ser130=)
|
|
|
NM_005585.5(SMAD6):c.396G>C (p.Arg132=)
|
|
|
NM_005585.5(SMAD6):c.396G>T (p.Arg132=)
|
rs2140581526
|
|
NM_005585.5(SMAD6):c.411G>A (p.Ala137=)
|
rs1555434217
|
|
NM_005585.5(SMAD6):c.447C>G (p.Ala149=)
|
|
|
NM_005585.5(SMAD6):c.459G>T (p.Ala153=)
|
|
|
NM_005585.5(SMAD6):c.465C>T (p.Gly155=)
|
|
|
NM_005585.5(SMAD6):c.471G>C (p.Arg157=)
|
|
|
NM_005585.5(SMAD6):c.489G>C (p.Ser163=)
|
|
|
NM_005585.5(SMAD6):c.493C>T (p.Leu165=)
|
|
|
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.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.528G>A (p.Thr176=)
|
|
|
NM_005585.5(SMAD6):c.531C>T (p.Tyr177=)
|
rs760571406
|
|
NM_005585.5(SMAD6):c.538C>T (p.Leu180=)
|
|
|
NM_005585.5(SMAD6):c.558C>T (p.Arg186=)
|
|
|
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.573G>T (p.Leu191=)
|
rs778199794
|
|
NM_005585.5(SMAD6):c.576G>A (p.Leu192=)
|
|
|
NM_005585.5(SMAD6):c.594C>T (p.Arg198=)
|
rs565225133
|
|
NM_005585.5(SMAD6):c.609C>G (p.Gly203=)
|
|
|
NM_005585.5(SMAD6):c.633C>A (p.Ala211=)
|
|
|
NM_005585.5(SMAD6):c.633C>T (p.Ala211=)
|
|
|
NM_005585.5(SMAD6):c.63C>T (p.Asp21=)
|
rs780992085
|
|
NM_005585.5(SMAD6):c.642C>T (p.Arg214=)
|
|
|
NM_005585.5(SMAD6):c.651C>G (p.Gly217=)
|
|
|
NM_005585.5(SMAD6):c.654G>A (p.Gln218=)
|
|
|
NM_005585.5(SMAD6):c.672G>C (p.Leu224=)
|
|
|
NM_005585.5(SMAD6):c.681C>T (p.Gly227=)
|
|
|
NM_005585.5(SMAD6):c.702C>T (p.Asp234=)
|
rs779292711
|
|
NM_005585.5(SMAD6):c.703C>T (p.Leu235=)
|
|
|
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.729C>G (p.Pro243=)
|
|
|
NM_005585.5(SMAD6):c.729C>T (p.Pro243=)
|
|
|
NM_005585.5(SMAD6):c.732G>A (p.Leu244=)
|
rs1180155842
|
|
NM_005585.5(SMAD6):c.747C>T (p.Ser249=)
|
|
|
NM_005585.5(SMAD6):c.750C>T (p.Phe250=)
|
rs1164002736
|
|
NM_005585.5(SMAD6):c.768C>T (p.Gly256=)
|
|
|
NM_005585.5(SMAD6):c.774C>G (p.Thr258=)
|
|
|
NM_005585.5(SMAD6):c.780C>T (p.Cys260=)
|
rs754314545
|
|
NM_005585.5(SMAD6):c.789C>T (p.Pro263=)
|
|
|
NM_005585.5(SMAD6):c.798C>T (p.Phe266=)
|
rs758794528
|
|
NM_005585.5(SMAD6):c.802C>A (p.Arg268=)
|
|
|
NM_005585.5(SMAD6):c.807C>T (p.Leu269=)
|
|
|
NM_005585.5(SMAD6):c.817+16C>T
|
|
|
NM_005585.5(SMAD6):c.817+17G>C
|
|
|
NM_005585.5(SMAD6):c.818-17T>C
|
|
|
NM_005585.5(SMAD6):c.819A>G (p.Glu273=)
|
|
|
NM_005585.5(SMAD6):c.84C>T (p.Gly28=)
|
|
|
NM_005585.5(SMAD6):c.861G>A (p.Glu287=)
|
|
|
NM_005585.5(SMAD6):c.874+15C>T
|
|
|
NM_005585.5(SMAD6):c.874+20T>G
|
|
|
NM_005585.5(SMAD6):c.874+8_874+9del
|
rs2140596524
|
|
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.900C>T (p.Tyr300=)
|
|
|
NM_005585.5(SMAD6):c.93T>A (p.Gly31=)
|
rs780659575
|
|
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.954C>T (p.Asp318=)
|
|
|
NM_005585.5(SMAD6):c.99C>T (p.Gly33=)
|
|
|
NM_017617.5(NOTCH1):c.1266C>A (p.Pro422=)
|
rs762533002
|
|
NM_017617.5(NOTCH1):c.1904-16C>T
|
rs775848413
|
|
NM_017617.5(NOTCH1):c.2496G>A (p.Pro832=)
|
rs61751551
|
|
NM_017617.5(NOTCH1):c.2514C>T (p.Cys838=)
|
rs1554728839
|
|
NM_017617.5(NOTCH1):c.3315G>A (p.Ala1105=)
|
rs3812602
|
|
NM_017617.5(NOTCH1):c.3345G>T (p.Leu1115=)
|
rs752440904
|
|
NM_017617.5(NOTCH1):c.3579G>A (p.Gln1193=)
|
rs61751544
|
|
NM_017617.5(NOTCH1):c.404-5T>C
|
rs1229789449
|
|
NM_017617.5(NOTCH1):c.4335C>T (p.Ile1445=)
|
rs373960609
|
|
NM_017617.5(NOTCH1):c.4560C>T (p.Asp1520=)
|
rs1057523575
|
|
NM_017617.5(NOTCH1):c.5016C>T (p.Arg1672=)
|
rs1251609154
|
|
NM_017617.5(NOTCH1):c.5124G>A (p.Ser1708=)
|
rs35980907
|
|
NM_017617.5(NOTCH1):c.5168-7C>T
|
rs1589056781
|
|
NM_017617.5(NOTCH1):c.580A>C (p.Thr194Pro)
|
rs770333242
|
|
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.6180+9G>T
|
rs200371378
|
|
NM_017617.5(NOTCH1):c.6570G>C (p.Leu2190=)
|
rs200630233
|
|
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>T (p.Leu2247=)
|
rs377165086
|
|
NM_017617.5(NOTCH1):c.6966A>G (p.Gln2322=)
|
rs1318983291
|
|
NM_017617.5(NOTCH1):c.7232CAC[4] (p.Pro2415del)
|
rs762336270
|
|
NM_017617.5(NOTCH1):c.750C>A (p.Thr250=)
|
rs375772590
|
|
NM_017617.5(NOTCH1):c.7575G>C (p.Pro2525=)
|
rs375576856
|
|
NM_181486.4(TBX5):c.101C>T (p.Ala34Val)
|
rs761952835
|
|
NM_181486.4(TBX5):c.102C>A (p.Ala34=)
|
|
|
NM_181486.4(TBX5):c.1077A>G (p.Pro359=)
|
|
|
NM_181486.4(TBX5):c.1098C>G (p.Ala366=)
|
|
|
NM_181486.4(TBX5):c.1155C>T (p.Pro385=)
|
|
|
NM_181486.4(TBX5):c.115C>T (p.Pro39Ser)
|
|
|
NM_181486.4(TBX5):c.1161C>T (p.Ser387=)
|
|
|
NM_181486.4(TBX5):c.117G>A (p.Pro39=)
|
|
|
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.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.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.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.216G>A (p.Thr72=)
|
|
|
NM_181486.4(TBX5):c.225C>T (p.Ile75=)
|
|
|
NM_181486.4(TBX5):c.242+15T>C
|
|
|
NM_181486.4(TBX5):c.242+18G>A
|
|
|
NM_181486.4(TBX5):c.243-13C>T
|
|
|
NM_181486.4(TBX5):c.243-20_243-5del
|
rs2136418321
|
|
NM_181486.4(TBX5):c.246G>T (p.Arg82=)
|
|
|
NM_181486.4(TBX5):c.264A>G (p.Lys88=)
|
|
|
NM_181486.4(TBX5):c.294G>T (p.Thr98=)
|
|
|
NM_181486.4(TBX5):c.362+13G>T
|
|
|
NM_181486.4(TBX5):c.375C>T (p.Gly125=)
|
|
|
NM_181486.4(TBX5):c.408C>T (p.Tyr136=)
|
|
|
NM_181486.4(TBX5):c.432C>A (p.Thr144=)
|
|
|
NM_181486.4(TBX5):c.438G>C (p.Ala146=)
|
|
|
NM_181486.4(TBX5):c.510+8C>A
|
|
|
NM_181486.4(TBX5):c.511-9del
|
rs775035000
|
|
NM_181486.4(TBX5):c.537C>T (p.Tyr179=)
|
|
|
NM_181486.4(TBX5):c.555C>T (p.Ile185=)
|
rs142631741
|
|
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.627T>C (p.Thr209=)
|
|
|
NM_181486.4(TBX5):c.663+16A>G
|
rs752606041
|
|
NM_181486.4(TBX5):c.6C>G (p.Ala2=)
|
|
|
NM_181486.4(TBX5):c.717T>C (p.Ser239=)
|
|
|
NM_181486.4(TBX5):c.723C>T (p.Asp241=)
|
|
|
NM_181486.4(TBX5):c.730C>T (p.Leu244=)
|
|
|
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.842T>G (p.Leu281Arg)
|
|
|
NM_181486.4(TBX5):c.855C>T (p.Ser285=)
|
|
|
NM_181486.4(TBX5):c.864G>A (p.Gly288=)
|
|
|
NM_181486.4(TBX5):c.894C>T (p.Ser298=)
|
|
|
NM_181486.4(TBX5):c.914T>C (p.Leu305Pro)
|
|
|
NM_181486.4(TBX5):c.982+11T>G
|
|
|
NM_181486.4(TBX5):c.982+14C>T
|
|
|
NM_181486.4(TBX5):c.982+20G>A
|
rs1231635306
|
|
NM_181486.4(TBX5):c.983-13C>T
|
|
|
NM_181486.4(TBX5):c.983-8C>T
|
|
|