NM_000435.3(NOTCH3):c.*338A>C
|
rs7247906
|
0.90792
|
NM_000435.3(NOTCH3):c.5363-125C>T
|
rs10415431
|
0.90728
|
NM_000435.3(NOTCH3):c.4563A>G (p.Pro1521=)
|
rs1044006
|
0.90693
|
NM_000435.3(NOTCH3):c.5913+28T>G
|
rs4809029
|
0.90682
|
NM_000435.3(NOTCH3):c.5362+3T>C
|
rs1548555
|
0.90675
|
NM_000435.3(NOTCH3):c.5363-297G>A
|
rs7250232
|
0.90672
|
NM_000435.3(NOTCH3):c.5362+122G>A
|
rs1548554
|
0.90670
|
NM_000435.3(NOTCH3):c.5362+294_5362+295insC
|
rs3214209
|
0.90661
|
NM_000435.3(NOTCH3):c.5816-8T>C
|
rs4809030
|
0.90632
|
NM_000435.3(NOTCH3):c.5815+36G>A
|
rs2074618
|
0.90515
|
NM_000435.3(NOTCH3):c.5815+124G>C
|
rs2074617
|
0.90513
|
NM_000435.3(NOTCH3):c.5363-21G>A
|
rs10416777
|
0.90510
|
NM_000435.3(NOTCH3):c.5363-17C>T
|
rs2074619
|
0.90508
|
NM_000435.3(NOTCH3):c.5363-107G>A
|
rs62113791
|
0.90499
|
NM_000435.3(NOTCH3):c.5363-104A>G
|
rs45591935
|
0.90426
|
NM_000435.3(NOTCH3):c.5816-251A>G
|
rs757474
|
0.90400
|
NM_000435.3(NOTCH3):c.4736+268T>G
|
rs72992080
|
0.90027
|
NM_000435.3(NOTCH3):c.4736+284C>T
|
rs113409991
|
0.89143
|
NM_000435.3(NOTCH3):c.1192+15A>G
|
rs10423702
|
0.87325
|
NM_000435.3(NOTCH3):c.606A>G (p.Ala202=)
|
rs1043994
|
0.87319
|
NM_000435.3(NOTCH3):c.5913+55A>G
|
rs757472
|
0.86388
|
NM_000435.3(NOTCH3):c.1607-121T>C
|
rs10408984
|
0.78272
|
NM_000435.3(NOTCH3):c.5199+132T>C
|
rs7249115
|
0.78269
|
NM_000435.3(NOTCH3):c.2566+115G>A
|
rs2074616
|
0.77830
|
NM_000435.3(NOTCH3):c.2742A>G (p.Pro914=)
|
rs1043997
|
0.76937
|
NM_000435.3(NOTCH3):c.2792+21G>A
|
rs11669982
|
0.76928
|
NM_000435.3(NOTCH3):c.6668C>T (p.Ala2223Val)
|
rs1044009
|
0.69087
|
NM_000435.3(NOTCH3):c.1378+152A>G
|
rs2238643
|
0.68687
|
NM_000435.3(NOTCH3):c.*890C>T
|
rs1044123
|
0.68217
|
NM_000435.3(NOTCH3):c.*808G>A
|
rs1044116
|
0.68208
|
NM_000435.3(NOTCH3):c.*668G>T
|
rs1044055
|
0.68206
|
NM_000435.3(NOTCH3):c.5815+172G>T
|
rs2886698
|
0.68152
|
NM_000435.3(NOTCH3):c.3328-105C>T
|
rs2074621
|
0.67138
|
NM_000435.3(NOTCH3):c.4892-22G>T
|
rs2074620
|
0.59905
|
NM_000435.3(NOTCH3):c.2566+304C>T
|
rs4809043
|
0.57936
|
NM_000435.3(NOTCH3):c.2792+116G>A
|
rs11669950
|
0.57374
|
NM_000435.3(NOTCH3):c.3837+21T>A
|
rs11670823
|
0.56639
|
NM_000435.3(NOTCH3):c.2538C>T (p.Cys846=)
|
rs1043996
|
0.56438
|
NM_000435.3(NOTCH3):c.1951+113G>A
|
rs7245563
|
0.28286
|
NM_000435.3(NOTCH3):c.303C>T (p.Thr101=)
|
rs3815188
|
0.18114
|
NM_000435.3(NOTCH3):c.1952-227G>A
|
rs10407433
|
0.17383
|
NM_000435.3(NOTCH3):c.5526T>C (p.Ala1842=)
|
rs16980398
|
0.12317
|
NM_000435.3(NOTCH3):c.5362+168A>C
|
rs10417352
|
0.12315
|
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro)
|
rs35769976
|
0.10508
|
NM_000435.3(NOTCH3):c.2995-60A>G
|
rs57538005
|
0.09105
|
NM_000435.3(NOTCH3):c.3547G>A (p.Val1183Met)
|
rs10408676
|
0.08167
|
NM_000435.3(NOTCH3):c.2566+95A>G
|
rs8113116
|
0.08161
|
NC_000019.10:g.15201184T>G
|
rs73926728
|
0.07960
|
NM_000435.3(NOTCH3):c.4891+23G>C
|
rs56277836
|
0.07390
|
NM_000435.3(NOTCH3):c.197+215C>T
|
rs73506364
|
0.07088
|
NM_000435.3(NOTCH3):c.5914-208C>T
|
rs73504088
|
0.04118
|
NM_000435.3(NOTCH3):c.*563T>C
|
rs77669983
|
0.03615
|
NM_000435.3(NOTCH3):c.6438G>A (p.Ala2146=)
|
rs1044008
|
0.03162
|
NM_000435.3(NOTCH3):c.6221C>T (p.Pro2074Leu)
|
rs114447350
|
0.02709
|
NM_000435.3(NOTCH3):c.6753C>T (p.Ser2251=)
|
rs61731975
|
0.02703
|
NM_000435.3(NOTCH3):c.1140T>C (p.Pro380=)
|
rs61749020
|
0.02545
|
NC_000019.10:g.15201008G>T
|
rs529259186
|
0.02197
|
NM_000435.3(NOTCH3):c.*837G>A
|
rs12082
|
0.02010
|
NM_000435.3(NOTCH3):c.3399C>A (p.His1133Gln)
|
rs112197217
|
0.01566
|
NM_000435.3(NOTCH3):c.1607-127T>C
|
rs12980291
|
0.01561
|
NM_000435.3(NOTCH3):c.2039G>A (p.Arg680His)
|
rs10406745
|
0.01547
|
NM_000435.3(NOTCH3):c.6102C>T (p.Pro2034=)
|
rs114887570
|
0.01539
|
NM_000435.3(NOTCH3):c.6813T>C (p.Pro2271=)
|
rs61731974
|
0.01445
|
NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu)
|
rs11670799
|
0.01273
|
NM_000435.3(NOTCH3):c.1492+112T>C
|
rs79481785
|
0.01273
|
NM_000435.3(NOTCH3):c.1782C>T (p.Gly594=)
|
rs35793356
|
0.01231
|
NM_000435.3(NOTCH3):c.4404-73G>A
|
rs184708055
|
0.01038
|
NM_000435.3(NOTCH3):c.1037-188A>G
|
rs111899180
|
0.01037
|
NM_000435.3(NOTCH3):c.118+54G>C
|
rs148492068
|
0.01017
|
NM_000435.3(NOTCH3):c.*23T>A
|
rs73504084
|
0.00989
|
NM_000435.3(NOTCH3):c.5914-128G>A
|
rs114377485
|
0.00843
|
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met)
|
rs115582213
|
0.00841
|
NM_000435.3(NOTCH3):c.3143-29C>T
|
rs137943075
|
0.00839
|
NM_000435.3(NOTCH3):c.*96C>T
|
rs117165744
|
0.00826
|
NM_000435.3(NOTCH3):c.2566+24G>T
|
rs151276393
|
0.00824
|
NM_000435.3(NOTCH3):c.3328-184C>T
|
rs141487988
|
0.00791
|
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=)
|
rs78926093
|
0.00784
|
NM_000435.3(NOTCH3):c.197+24C>G
|
rs188132716
|
0.00778
|
NM_000435.3(NOTCH3):c.2994+57G>A
|
rs111880276
|
0.00778
|
NM_000435.3(NOTCH3):c.1490C>T (p.Ser497Leu)
|
rs114207045
|
0.00755
|
NM_000435.3(NOTCH3):c.1952-23G>A
|
rs147014533
|
0.00747
|
NM_000435.3(NOTCH3):c.1606+116G>A
|
rs543353483
|
0.00642
|
NM_000435.3(NOTCH3):c.5400G>T (p.Gly1800=)
|
rs34480308
|
0.00591
|
NM_000435.3(NOTCH3):c.3704A>T (p.His1235Leu)
|
rs55882518
|
0.00433
|
NM_000435.3(NOTCH3):c.4679G>C (p.Arg1560Pro)
|
rs78501403
|
0.00417
|
NM_000435.3(NOTCH3):c.3719-11C>T
|
rs78907190
|
0.00367
|
NM_000435.3(NOTCH3):c.197+23C>A
|
rs202151374
|
0.00365
|
NM_000435.3(NOTCH3):c.1379-173C>G
|
rs547839307
|
0.00322
|
NM_000435.3(NOTCH3):c.2202C>T (p.Ala734=)
|
rs140040122
|
0.00306
|
NM_000435.3(NOTCH3):c.5816-51G>A
|
rs113742824
|
0.00301
|
NM_000435.3(NOTCH3):c.2411-4C>G
|
rs190177286
|
0.00295
|
NM_000435.3(NOTCH3):c.5370C>T (p.Phe1790=)
|
rs35887416
|
0.00287
|
NM_000435.3(NOTCH3):c.2507C>T (p.Thr836Ile)
|
rs34338511
|
0.00222
|
NM_000435.3(NOTCH3):c.2724C>T (p.Phe908=)
|
rs61731967
|
0.00222
|
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met)
|
rs141320511
|
0.00217
|
NM_000435.3(NOTCH3):c.2175T>C (p.Ser725=)
|
rs141993521
|
0.00214
|
NM_000435.3(NOTCH3):c.2300G>A (p.Arg767His)
|
rs75291244
|
0.00213
|
NM_000435.3(NOTCH3):c.3718+13G>T
|
rs201077354
|
0.00188
|
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg)
|
rs147373451
|
0.00184
|
NM_000435.3(NOTCH3):c.4374C>T (p.Cys1458=)
|
rs150288106
|
0.00162
|
NM_000435.3(NOTCH3):c.3314G>C (p.Gly1105Ala)
|
rs143764521
|
0.00158
|
NM_000435.3(NOTCH3):c.6237G>A (p.Gly2079=)
|
rs376598183
|
0.00145
|
NM_000435.3(NOTCH3):c.4071C>T (p.Pro1357=)
|
rs542856470
|
0.00118
|
NM_000435.3(NOTCH3):c.2682C>T (p.Asn894=)
|
rs138245070
|
0.00107
|
NM_000435.3(NOTCH3):c.4737-19C>T
|
rs180755159
|
0.00105
|
NM_000435.3(NOTCH3):c.660C>T (p.Tyr220=)
|
rs114457076
|
0.00091
|
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys)
|
rs201680145
|
0.00089
|
NM_000435.3(NOTCH3):c.1607-5C>A
|
rs372869012
|
0.00081
|
NM_000435.3(NOTCH3):c.2835G>A (p.Ser945=)
|
rs141346023
|
0.00081
|
NM_000435.3(NOTCH3):c.4025C>A (p.Ala1342Asp)
|
rs888391580
|
0.00070
|
NM_000435.3(NOTCH3):c.5510G>A (p.Arg1837His)
|
rs138265894
|
0.00066
|
NM_000435.3(NOTCH3):c.3327+24G>C
|
rs202014036
|
0.00064
|
NM_000435.3(NOTCH3):c.338G>A (p.Arg113Gln)
|
rs143385744
|
0.00064
|
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp)
|
rs148046938
|
0.00063
|
NM_000435.3(NOTCH3):c.6532C>T (p.Pro2178Ser)
|
rs751951476
|
0.00059
|
NM_000435.3(NOTCH3):c.1952-32T>G
|
rs137877808
|
0.00051
|
NM_000435.3(NOTCH3):c.945C>T (p.Ile315=)
|
rs116239440
|
0.00048
|
NM_000435.3(NOTCH3):c.5992C>T (p.Arg1998Cys)
|
rs201105335
|
0.00046
|
NM_000435.3(NOTCH3):c.2411-11C>A
|
rs201130717
|
0.00043
|
NM_000435.3(NOTCH3):c.4639C>G (p.Leu1547Val)
|
rs150037063
|
0.00043
|
NM_000435.3(NOTCH3):c.3629G>A (p.Arg1210His)
|
rs35031555
|
0.00041
|
NM_000435.3(NOTCH3):c.4858C>T (p.Leu1620=)
|
rs144401090
|
0.00041
|
NM_000435.3(NOTCH3):c.1194C>T (p.Gly398=)
|
rs140368657
|
0.00036
|
NM_000435.3(NOTCH3):c.3658C>T (p.Arg1220Trp)
|
rs115872852
|
0.00036
|
NM_000435.3(NOTCH3):c.536G>T (p.Gly179Val)
|
rs142778401
|
0.00036
|
NM_000435.3(NOTCH3):c.2580C>T (p.Asn860=)
|
rs201436750
|
0.00035
|
NM_000435.3(NOTCH3):c.5200-4C>A
|
rs375036447
|
0.00035
|
NM_000435.3(NOTCH3):c.6626C>T (p.Pro2209Leu)
|
rs541716070
|
0.00035
|
NM_000435.3(NOTCH3):c.1493-8C>T
|
rs201202842
|
0.00032
|
NM_000435.3(NOTCH3):c.6632A>G (p.Tyr2211Cys)
|
rs369813654
|
0.00031
|
NM_000435.3(NOTCH3):c.3523C>T (p.Arg1175Trp)
|
rs200504060
|
0.00028
|
NM_000435.3(NOTCH3):c.3838-27C>T
|
rs549483448
|
0.00027
|
NM_000435.3(NOTCH3):c.3170C>T (p.Ala1057Val)
|
rs368146879
|
0.00026
|
NM_000435.3(NOTCH3):c.964G>A (p.Val322Met)
|
rs115029695
|
0.00025
|
NM_000435.3(NOTCH3):c.1619C>T (p.Thr540Met)
|
rs200317373
|
0.00024
|
NM_000435.3(NOTCH3):c.2183G>A (p.Arg728His)
|
rs144935367
|
0.00024
|
NM_000435.3(NOTCH3):c.5129G>A (p.Gly1710Asp)
|
rs143411026
|
0.00024
|
NM_000435.3(NOTCH3):c.6573G>A (p.Pro2191=)
|
rs576653145
|
0.00024
|
NM_000435.3(NOTCH3):c.850G>A (p.Ala284Thr)
|
rs149307620
|
0.00024
|
NM_000435.3(NOTCH3):c.884T>G (p.Leu295Arg)
|
rs143117018
|
0.00024
|
NM_000435.3(NOTCH3):c.2932A>C (p.Ser978Arg)
|
rs141956294
|
0.00023
|
NM_000435.3(NOTCH3):c.340+14A>G
|
rs202136001
|
0.00022
|
NM_000435.3(NOTCH3):c.3428G>A (p.Arg1143His)
|
rs144559574
|
0.00021
|
NM_000435.3(NOTCH3):c.4737-6C>T
|
rs377478976
|
0.00021
|
NM_000435.3(NOTCH3):c.6504G>C (p.Val2168=)
|
rs546608637
|
0.00021
|
NM_000435.3(NOTCH3):c.831G>A (p.Glu277=)
|
rs145049433
|
0.00021
|
NM_000435.3(NOTCH3):c.2437G>A (p.Glu813Lys)
|
rs375873637
|
0.00020
|
NM_000435.3(NOTCH3):c.2738C>T (p.Pro913Leu)
|
rs370422650
|
0.00019
|
NM_000435.3(NOTCH3):c.5114+10C>G
|
rs369547319
|
0.00019
|
NM_000435.3(NOTCH3):c.5466C>T (p.Ser1822=)
|
rs148053028
|
0.00019
|
NM_000435.3(NOTCH3):c.6684C>T (p.Ser2228=)
|
rs755461072
|
0.00019
|
NM_000435.3(NOTCH3):c.5127G>A (p.Lys1709=)
|
rs578020650
|
0.00018
|
NM_000435.3(NOTCH3):c.2804A>G (p.Asn935Ser)
|
rs201147300
|
0.00017
|
NM_000435.3(NOTCH3):c.3328-8C>A
|
rs200360207
|
0.00017
|
NM_000435.3(NOTCH3):c.3692G>A (p.Arg1231His)
|
rs778176344
|
0.00017
|
NM_000435.3(NOTCH3):c.3299G>A (p.Arg1100His)
|
rs189545202
|
0.00016
|
NM_000435.3(NOTCH3):c.5460C>A (p.Ile1820=)
|
rs114661066
|
0.00016
|
NM_000435.3(NOTCH3):c.5895G>A (p.Lys1965=)
|
rs140567100
|
0.00016
|
NM_000435.3(NOTCH3):c.996C>T (p.Arg332=)
|
rs183500505
|
0.00016
|
NM_000435.3(NOTCH3):c.181C>T (p.Arg61Trp)
|
rs200595885
|
0.00015
|
NM_000435.3(NOTCH3):c.1760G>A (p.Arg587His)
|
rs142787620
|
0.00014
|
NM_000435.3(NOTCH3):c.4455C>T (p.Asp1485=)
|
rs552265898
|
0.00014
|
NM_000435.3(NOTCH3):c.4935A>T (p.Pro1645=)
|
rs111706798
|
0.00014
|
NM_000435.3(NOTCH3):c.499C>T (p.Pro167Ser)
|
rs202157633
|
0.00014
|
NM_000435.3(NOTCH3):c.6611C>T (p.Pro2204Leu)
|
rs371738874
|
0.00014
|
NM_000435.3(NOTCH3):c.1677C>T (p.Cys559=)
|
rs113216024
|
0.00013
|
NM_000435.3(NOTCH3):c.1690G>A (p.Ala564Thr)
|
rs374767079
|
0.00013
|
NM_000435.3(NOTCH3):c.3569G>A (p.Arg1190His)
|
rs372241697
|
0.00013
|
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met)
|
rs199620476
|
0.00013
|
NM_000435.3(NOTCH3):c.6300G>A (p.Ser2100=)
|
rs183839795
|
0.00013
|
NM_000435.3(NOTCH3):c.135C>T (p.Asp45=)
|
rs370177269
|
0.00012
|
NM_000435.3(NOTCH3):c.203C>T (p.Pro68Leu)
|
rs146810942
|
0.00012
|
NM_000435.3(NOTCH3):c.1774C>A (p.Arg592Ser)
|
rs764148985
|
0.00011
|
NM_000435.3(NOTCH3):c.2941C>T (p.His981Tyr)
|
rs143695196
|
0.00011
|
NM_000435.3(NOTCH3):c.3645C>T (p.His1215=)
|
rs773203358
|
0.00011
|
NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly)
|
rs199638166
|
0.00011
|
NM_000435.3(NOTCH3):c.4348G>A (p.Ala1450Thr)
|
rs201082692
|
0.00011
|
NM_000435.3(NOTCH3):c.6031G>A (p.Val2011Ile)
|
rs142007575
|
0.00011
|
NM_000435.3(NOTCH3):c.6238C>T (p.Arg2080Trp)
|
rs113178142
|
0.00011
|
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met)
|
rs148716935
|
0.00011
|
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)
|
rs201118034
|
0.00010
|
NM_000435.3(NOTCH3):c.224G>A (p.Arg75Gln)
|
rs145069047
|
0.00010
|
NM_000435.3(NOTCH3):c.3758A>C (p.Gln1253Pro)
|
rs749611934
|
0.00010
|
NM_000435.3(NOTCH3):c.4560G>T (p.Pro1520=)
|
rs370010007
|
0.00010
|
NM_000435.3(NOTCH3):c.5284G>A (p.Val1762Met)
|
rs756495084
|
0.00010
|
NM_000435.3(NOTCH3):c.803-17G>C
|
rs773505929
|
0.00010
|
NM_000435.3(NOTCH3):c.1854A>G (p.Glu618=)
|
rs150438748
|
0.00009
|
NM_000435.3(NOTCH3):c.283A>C (p.Ser95Arg)
|
rs777645491
|
0.00009
|
NM_000435.3(NOTCH3):c.3421G>A (p.Val1141Met)
|
rs373181668
|
0.00009
|
NM_000435.3(NOTCH3):c.4046C>T (p.Ser1349Phe)
|
rs937871148
|
0.00009
|
NM_000435.3(NOTCH3):c.4053C>T (p.Arg1351=)
|
rs927758025
|
0.00009
|
NM_000435.3(NOTCH3):c.4725C>A (p.Pro1575=)
|
rs374042078
|
0.00009
|
NM_000435.3(NOTCH3):c.5323G>A (p.Ala1775Thr)
|
rs139983430
|
0.00009
|
NM_000435.3(NOTCH3):c.5900T>C (p.Met1967Thr)
|
rs377589088
|
0.00009
|
NM_000435.3(NOTCH3):c.6239G>A (p.Arg2080Gln)
|
rs759896413
|
0.00009
|
NM_000435.3(NOTCH3):c.624C>T (p.Asn208=)
|
rs368179321
|
0.00009
|
NM_000435.3(NOTCH3):c.6569C>T (p.Ala2190Val)
|
rs528151296
|
0.00009
|
NM_000435.3(NOTCH3):c.1500C>T (p.Ser500=)
|
rs146055867
|
0.00008
|
NM_000435.3(NOTCH3):c.2995-6C>T
|
rs552141058
|
0.00008
|
NM_000435.3(NOTCH3):c.3227G>A (p.Arg1076His)
|
rs771803651
|
0.00008
|
NM_000435.3(NOTCH3):c.3785G>T (p.Arg1262Leu)
|
rs143684274
|
0.00008
|
NM_000435.3(NOTCH3):c.5376G>A (p.Pro1792=)
|
rs374875084
|
0.00008
|
NM_000435.3(NOTCH3):c.1469G>C (p.Gly490Ala)
|
rs374248747
|
0.00007
|
NM_000435.3(NOTCH3):c.1505C>T (p.Ser502Phe)
|
rs778571943
|
0.00007
|
NM_000435.3(NOTCH3):c.269G>A (p.Arg90His)
|
rs754726425
|
0.00007
|
NM_000435.3(NOTCH3):c.3659G>A (p.Arg1220Gln)
|
rs370233852
|
0.00007
|
NM_000435.3(NOTCH3):c.4404C>T (p.Asn1468=)
|
rs145425679
|
0.00007
|
NM_000435.3(NOTCH3):c.4728G>C (p.Glu1576Asp)
|
rs557113034
|
0.00007
|
NM_000435.3(NOTCH3):c.5678G>A (p.Arg1893Gln)
|
rs372834264
|
0.00007
|
NM_000435.3(NOTCH3):c.6024G>A (p.Pro2008=)
|
rs766274305
|
0.00007
|
NM_000435.3(NOTCH3):c.709G>A (p.Val237Met)
|
rs2285981
|
0.00007
|
NM_000435.3(NOTCH3):c.120C>G (p.Ala40=)
|
rs146904189
|
0.00006
|
NM_000435.3(NOTCH3):c.1416G>T (p.Glu472Asp)
|
rs1416152273
|
0.00006
|
NM_000435.3(NOTCH3):c.1466A>G (p.Asn489Ser)
|
rs376728138
|
0.00006
|
NM_000435.3(NOTCH3):c.1578C>G (p.Pro526=)
|
rs775208731
|
0.00006
|
NM_000435.3(NOTCH3):c.1840+8C>T
|
rs372100017
|
0.00006
|
NM_000435.3(NOTCH3):c.1920C>T (p.Arg640=)
|
rs140818133
|
0.00006
|
NM_000435.3(NOTCH3):c.2000G>A (p.Gly667Asp)
|
rs370386680
|
0.00006
|
NM_000435.3(NOTCH3):c.2070A>G (p.Pro690=)
|
rs370780913
|
0.00006
|
NM_000435.3(NOTCH3):c.2226G>A (p.Pro742=)
|
rs79471197
|
0.00006
|
NM_000435.3(NOTCH3):c.2282C>T (p.Pro761Leu)
|
rs150866973
|
0.00006
|
NM_000435.3(NOTCH3):c.2358C>T (p.Cys786=)
|
rs754220821
|
0.00006
|
NM_000435.3(NOTCH3):c.2652C>T (p.Cys884=)
|
rs767473898
|
0.00006
|
NM_000435.3(NOTCH3):c.359C>T (p.Pro120Leu)
|
rs778715118
|
0.00006
|
NM_000435.3(NOTCH3):c.3642C>T (p.Cys1214=)
|
rs78985996
|
0.00006
|
NM_000435.3(NOTCH3):c.3719-7C>T
|
rs374419613
|
0.00006
|
NM_000435.3(NOTCH3):c.390C>T (p.His130=)
|
rs139597834
|
0.00006
|
NM_000435.3(NOTCH3):c.432C>T (p.Cys144=)
|
rs748339634
|
0.00006
|
NM_000435.3(NOTCH3):c.472G>A (p.Asp158Asn)
|
rs544773641
|
0.00006
|
NM_000435.3(NOTCH3):c.487C>T (p.Arg163Trp)
|
rs367707092
|
0.00006
|
NM_000435.3(NOTCH3):c.5010G>A (p.Glu1670=)
|
rs937296497
|
0.00006
|
NM_000435.3(NOTCH3):c.5319C>T (p.Gly1773=)
|
rs115262182
|
0.00006
|
NM_000435.3(NOTCH3):c.5467G>A (p.Asp1823Asn)
|
rs763602970
|
0.00006
|
NM_000435.3(NOTCH3):c.5937C>T (p.Ala1979=)
|
rs570392715
|
0.00006
|
NM_000435.3(NOTCH3):c.6010C>T (p.Leu2004=)
|
rs370927186
|
0.00006
|
NM_000435.3(NOTCH3):c.6164C>T (p.Ala2055Val)
|
rs769066713
|
0.00006
|
NM_000435.3(NOTCH3):c.6619C>T (p.Arg2207Trp)
|
rs753170185
|
0.00006
|
NM_000435.3(NOTCH3):c.6666G>A (p.Pro2222=)
|
rs769365145
|
0.00006
|
NM_000435.3(NOTCH3):c.6747C>T (p.Pro2249=)
|
rs769454994
|
0.00006
|
NM_000435.3(NOTCH3):c.6802G>A (p.Glu2268Lys)
|
rs996150018
|
0.00006
|
NM_000435.3(NOTCH3):c.754G>A (p.Val252Met)
|
rs115836330
|
0.00006
|
NM_000435.3(NOTCH3):c.771C>A (p.Thr257=)
|
rs373744631
|
0.00006
|
NM_000435.3(NOTCH3):c.822C>T (p.Asp274=)
|
rs755998957
|
0.00006
|
NM_000435.3(NOTCH3):c.1524G>A (p.Val508=)
|
rs749980683
|
0.00005
|
NM_000435.3(NOTCH3):c.1567G>A (p.Val523Met)
|
rs564452430
|
0.00005
|
NM_000435.3(NOTCH3):c.1631G>A (p.Arg544His)
|
rs751284168
|
0.00005
|
NM_000435.3(NOTCH3):c.2319C>T (p.Ser773=)
|
rs182623173
|
0.00005
|
NM_000435.3(NOTCH3):c.2960C>G (p.Thr987Ser)
|
rs752995216
|
0.00005
|
NM_000435.3(NOTCH3):c.3327+10C>T
|
rs747489033
|
0.00005
|
NM_000435.3(NOTCH3):c.351C>T (p.Cys117=)
|
rs200881673
|
0.00005
|
NM_000435.3(NOTCH3):c.355C>T (p.Leu119=)
|
rs747886116
|
0.00005
|
NM_000435.3(NOTCH3):c.3575C>T (p.Thr1192Ile)
|
rs150811543
|
0.00005
|
NM_000435.3(NOTCH3):c.4333G>T (p.Ala1445Ser)
|
rs377578886
|
0.00005
|
NM_000435.3(NOTCH3):c.4413C>T (p.Tyr1471=)
|
rs920286007
|
0.00005
|
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu)
|
rs371491165
|
0.00005
|
NM_000435.3(NOTCH3):c.4806C>T (p.Pro1602=)
|
rs578082632
|
0.00005
|
NM_000435.3(NOTCH3):c.5673C>T (p.Leu1891=)
|
rs758393959
|
0.00005
|
NM_000435.3(NOTCH3):c.5739G>A (p.Ala1913=)
|
rs776548752
|
0.00005
|
NM_000435.3(NOTCH3):c.591C>T (p.Pro197=)
|
rs367943979
|
0.00005
|
NM_000435.3(NOTCH3):c.6521G>A (p.Arg2174Gln)
|
rs1337328035
|
0.00005
|
NM_000435.3(NOTCH3):c.743G>C (p.Gly248Ala)
|
rs141402160
|
0.00005
|
NM_000435.3(NOTCH3):c.1036+10C>T
|
rs776962888
|
0.00004
|
NM_000435.3(NOTCH3):c.1277C>T (p.Pro426Leu)
|
rs756516988
|
0.00004
|
NM_000435.3(NOTCH3):c.1678G>A (p.Val560Met)
|
rs200160665
|
0.00004
|
NM_000435.3(NOTCH3):c.1724C>T (p.Thr575Met)
|
rs371176740
|
0.00004
|
NM_000435.3(NOTCH3):c.1729A>G (p.Thr577Ala)
|
rs368181126
|
0.00004
|
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys)
|
rs769773673
|
0.00004
|
NM_000435.3(NOTCH3):c.1775G>A (p.Arg592His)
|
rs763115768
|
0.00004
|
NM_000435.3(NOTCH3):c.1873G>A (p.Ala625Thr)
|
rs747633377
|
0.00004
|
NM_000435.3(NOTCH3):c.1918C>T (p.Arg640Cys)
|
rs760768552
|
0.00004
|
NM_000435.3(NOTCH3):c.2142C>A (p.Gly714=)
|
rs369579579
|
0.00004
|
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys)
|
rs144163298
|
0.00004
|
NM_000435.3(NOTCH3):c.223C>T (p.Arg75Trp)
|
rs762164861
|
0.00004
|
NM_000435.3(NOTCH3):c.2436C>T (p.Asp812=)
|
rs369733076
|
0.00004
|
NM_000435.3(NOTCH3):c.3120C>T (p.Cys1040=)
|
rs372688320
|
0.00004
|
NM_000435.3(NOTCH3):c.3210C>T (p.Cys1070=)
|
rs202041210
|
0.00004
|
NM_000435.3(NOTCH3):c.3475A>G (p.Ile1159Val)
|
rs1044143019
|
0.00004
|
NM_000435.3(NOTCH3):c.3566T>C (p.Phe1189Ser)
|
rs764617561
|
0.00004
|
NM_000435.3(NOTCH3):c.3806G>T (p.Gly1269Val)
|
rs781401262
|
0.00004
|
NM_000435.3(NOTCH3):c.4793A>T (p.Asp1598Val)
|
rs201167365
|
0.00004
|
NM_000435.3(NOTCH3):c.4875A>C (p.Pro1625=)
|
rs538466132
|
0.00004
|
NM_000435.3(NOTCH3):c.488G>A (p.Arg163Gln)
|
rs761209241
|
0.00004
|
NM_000435.3(NOTCH3):c.5551C>T (p.Arg1851Cys)
|
rs376590511
|
0.00004
|
NM_000435.3(NOTCH3):c.5569C>T (p.Arg1857Trp)
|
rs752169336
|
0.00004
|
NM_000435.3(NOTCH3):c.5628G>T (p.Leu1876=)
|
rs781218286
|
0.00004
|
NM_000435.3(NOTCH3):c.6092G>A (p.Arg2031His)
|
rs779314594
|
0.00004
|
NM_000435.3(NOTCH3):c.6267G>A (p.Pro2089=)
|
rs577303432
|
0.00004
|
NM_000435.3(NOTCH3):c.6324G>A (p.Pro2108=)
|
rs776858941
|
0.00004
|
NM_000435.3(NOTCH3):c.632C>T (p.Thr211Ile)
|
rs770415497
|
0.00004
|
NM_000435.3(NOTCH3):c.6334G>A (p.Gly2112Ser)
|
rs372833545
|
0.00004
|
NM_000435.3(NOTCH3):c.6437C>T (p.Ala2146Val)
|
rs770739669
|
0.00004
|
NM_000435.3(NOTCH3):c.6570G>A (p.Ala2190=)
|
rs771107661
|
0.00004
|
NM_000435.3(NOTCH3):c.6669G>T (p.Ala2223=)
|
rs191173559
|
0.00004
|
NM_000435.3(NOTCH3):c.6926C>G (p.Pro2309Arg)
|
rs548018044
|
0.00004
|
NM_000435.3(NOTCH3):c.715G>A (p.Asp239Asn)
|
rs761407832
|
0.00004
|
NM_000435.3(NOTCH3):c.825G>A (p.Val275=)
|
rs138837495
|
0.00004
|
NM_000435.3(NOTCH3):c.963C>T (p.Ala321=)
|
rs538938551
|
0.00004
|
NM_000435.3(NOTCH3):c.983C>T (p.Thr328Ile)
|
rs769567750
|
0.00004
|
NM_000435.3(NOTCH3):c.143C>T (p.Pro48Leu)
|
rs1362111590
|
0.00003
|
NM_000435.3(NOTCH3):c.1460G>A (p.Arg487Gln)
|
rs765979836
|
0.00003
|
NM_000435.3(NOTCH3):c.1692C>T (p.Ala564=)
|
rs372158498
|
0.00003
|
NM_000435.3(NOTCH3):c.1840+9G>C
|
rs752066482
|
0.00003
|
NM_000435.3(NOTCH3):c.1966G>A (p.Val656Met)
|
rs560752299
|
0.00003
|
NM_000435.3(NOTCH3):c.204G>A (p.Pro68=)
|
rs772468516
|
0.00003
|
NM_000435.3(NOTCH3):c.2084C>T (p.Pro695Leu)
|
rs202228716
|
0.00003
|
NM_000435.3(NOTCH3):c.2455C>G (p.Pro819Ala)
|
rs1301248585
|
0.00003
|
NM_000435.3(NOTCH3):c.2588C>T (p.Ser863Leu)
|
rs758913191
|
0.00003
|
NM_000435.3(NOTCH3):c.2589G>A (p.Ser863=)
|
rs530503488
|
0.00003
|
NM_000435.3(NOTCH3):c.3311G>A (p.Gly1104Glu)
|
rs145524535
|
0.00003
|
NM_000435.3(NOTCH3):c.3352A>T (p.Asn1118Tyr)
|
rs376950447
|
0.00003
|
NM_000435.3(NOTCH3):c.3427C>T (p.Arg1143Cys)
|
rs60373464
|
0.00003
|
NM_000435.3(NOTCH3):c.3961G>A (p.Gly1321Arg)
|
rs1030392985
|
0.00003
|
NM_000435.3(NOTCH3):c.4086T>C (p.Ala1362=)
|
rs1297537098
|
0.00003
|
NM_000435.3(NOTCH3):c.4900C>T (p.Leu1634=)
|
rs745895264
|
0.00003
|
NM_000435.3(NOTCH3):c.4914A>G (p.Glu1638=)
|
rs149222385
|
0.00003
|
NM_000435.3(NOTCH3):c.5202A>G (p.Val1734=)
|
rs750943761
|
0.00003
|
NM_000435.3(NOTCH3):c.5554G>A (p.Ala1852Thr)
|
rs971318341
|
0.00003
|
NM_000435.3(NOTCH3):c.5646C>T (p.Ala1882=)
|
rs758307531
|
0.00003
|
NM_000435.3(NOTCH3):c.5840C>T (p.Ala1947Val)
|
rs779138148
|
0.00003
|
NM_000435.3(NOTCH3):c.5938G>A (p.Ala1980Thr)
|
rs367885841
|
0.00003
|
NM_000435.3(NOTCH3):c.6111C>T (p.His2037=)
|
rs764620593
|
0.00003
|
NM_000435.3(NOTCH3):c.6136C>T (p.Pro2046Ser)
|
rs1354320725
|
0.00003
|
NM_000435.3(NOTCH3):c.6209C>T (p.Ala2070Val)
|
rs763603215
|
0.00003
|
NM_000435.3(NOTCH3):c.6603C>T (p.Pro2201=)
|
rs200415679
|
0.00003
|
NM_000435.3(NOTCH3):c.1247T>A (p.Leu416Gln)
|
rs749874158
|
0.00002
|
NM_000435.3(NOTCH3):c.1375G>A (p.Ala459Thr)
|
rs370186772
|
0.00002
|
NM_000435.3(NOTCH3):c.157G>A (p.Gly53Ser)
|
rs778989879
|
0.00002
|
NM_000435.3(NOTCH3):c.1895G>A (p.Gly632Glu)
|
rs1287498840
|
0.00002
|
NM_000435.3(NOTCH3):c.2051C>T (p.Pro684Leu)
|
rs770737365
|
0.00002
|
NM_000435.3(NOTCH3):c.2118C>T (p.His706=)
|
rs760444055
|
0.00002
|
NM_000435.3(NOTCH3):c.2299C>T (p.Arg767Cys)
|
rs532100840
|
0.00002
|
NM_000435.3(NOTCH3):c.2359G>A (p.Glu787Lys)
|
rs1064797234
|
0.00002
|
NM_000435.3(NOTCH3):c.2450C>T (p.Pro817Leu)
|
rs142405648
|
0.00002
|
NM_000435.3(NOTCH3):c.2567-5C>T
|
rs1367294361
|
0.00002
|
NM_000435.3(NOTCH3):c.267C>T (p.Gly89=)
|
rs780210842
|
0.00002
|
NM_000435.3(NOTCH3):c.2748C>T (p.Tyr916=)
|
rs769605032
|
0.00002
|
NM_000435.3(NOTCH3):c.3173G>T (p.Gly1058Val)
|
rs763038502
|
0.00002
|
NM_000435.3(NOTCH3):c.319C>T (p.Arg107Trp)
|
rs768965053
|
0.00002
|
NM_000435.3(NOTCH3):c.3305A>T (p.Tyr1102Phe)
|
rs148838056
|
0.00002
|
NM_000435.3(NOTCH3):c.3401G>A (p.Gly1134Glu)
|
rs1257366364
|
0.00002
|
NM_000435.3(NOTCH3):c.3687T>C (p.Gly1229=)
|
rs1349205662
|
0.00002
|
NM_000435.3(NOTCH3):c.398G>A (p.Arg133His)
|
rs151016108
|
0.00002
|
NM_000435.3(NOTCH3):c.5115-19T>G
|
rs774492114
|
0.00002
|
NM_000435.3(NOTCH3):c.5180C>T (p.Pro1727Leu)
|
rs989373826
|
0.00002
|
NM_000435.3(NOTCH3):c.5199+20C>T
|
rs769829213
|
0.00002
|
NM_000435.3(NOTCH3):c.545G>A (p.Arg182His)
|
rs767175703
|
0.00002
|
NM_000435.3(NOTCH3):c.5570G>A (p.Arg1857Gln)
|
rs200883235
|
0.00002
|
NM_000435.3(NOTCH3):c.5618G>A (p.Arg1873His)
|
rs780169747
|
0.00002
|
NM_000435.3(NOTCH3):c.5879A>G (p.Lys1960Arg)
|
rs370239685
|
0.00002
|
NM_000435.3(NOTCH3):c.6266C>T (p.Pro2089Leu)
|
rs749288986
|
0.00002
|
NM_000435.3(NOTCH3):c.6411G>A (p.Leu2137=)
|
rs770123435
|
0.00002
|
NM_000435.3(NOTCH3):c.678T>C (p.Pro226=)
|
rs752866800
|
0.00002
|
NM_000435.3(NOTCH3):c.762C>T (p.Gly254=)
|
rs747601491
|
0.00002
|
NM_000435.3(NOTCH3):c.768C>T (p.Asn256=)
|
rs778247982
|
0.00002
|
NM_000435.3(NOTCH3):c.815C>T (p.Thr272Met)
|
rs749561286
|
0.00002
|
NM_000435.3(NOTCH3):c.925G>A (p.Glu309Lys)
|
rs1386908989
|
0.00002
|
NM_000435.3(NOTCH3):c.1010A>G (p.Tyr337Cys)
|
rs2046925676
|
0.00001
|
NM_000435.3(NOTCH3):c.1037-10C>A
|
rs369070061
|
0.00001
|
NM_000435.3(NOTCH3):c.1059C>T (p.Asp353=)
|
rs529200949
|
0.00001
|
NM_000435.3(NOTCH3):c.1076C>G (p.Pro359Arg)
|
rs1487017745
|
0.00001
|
NM_000435.3(NOTCH3):c.107C>T (p.Pro36Leu)
|
rs1311684711
|
0.00001
|
NM_000435.3(NOTCH3):c.119C>T (p.Ala40Val)
|
rs766139231
|
0.00001
|
NM_000435.3(NOTCH3):c.1206C>T (p.Cys402=)
|
rs775946966
|
0.00001
|
NM_000435.3(NOTCH3):c.1257C>T (p.Cys419=)
|
rs1357572876
|
0.00001
|
NM_000435.3(NOTCH3):c.133G>C (p.Asp45His)
|
rs142031490
|
0.00001
|
NM_000435.3(NOTCH3):c.1413C>T (p.Asp471=)
|
rs758559364
|
0.00001
|
NM_000435.3(NOTCH3):c.1463T>G (p.Val488Gly)
|
rs760245739
|
0.00001
|
NM_000435.3(NOTCH3):c.1494C>T (p.Gly498=)
|
rs142762020
|
0.00001
|
NM_000435.3(NOTCH3):c.1522G>A (p.Val508Met)
|
rs755398328
|
0.00001
|
NM_000435.3(NOTCH3):c.154G>A (p.Gly52Arg)
|
rs148166997
|
0.00001
|
NM_000435.3(NOTCH3):c.1593C>T (p.Cys531=)
|
rs1273411247
|
0.00001
|
NM_000435.3(NOTCH3):c.1594C>T (p.Arg532Cys)
|
rs1202763005
|
0.00001
|
NM_000435.3(NOTCH3):c.1747G>A (p.Val583Met)
|
rs886044601
|
0.00001
|
NM_000435.3(NOTCH3):c.1752C>T (p.Asp584=)
|
rs201207820
|
0.00001
|
NM_000435.3(NOTCH3):c.1780G>A (p.Gly594Ser)
|
rs955926125
|
0.00001
|
NM_000435.3(NOTCH3):c.1783G>A (p.Gly595Ser)
|
rs770146452
|
0.00001
|
NM_000435.3(NOTCH3):c.1792C>T (p.Leu598=)
|
rs922098906
|
0.00001
|
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys)
|
rs777751303
|
0.00001
|
NM_000435.3(NOTCH3):c.1952-26G>A
|
rs543132032
|
0.00001
|
NM_000435.3(NOTCH3):c.1977T>C (p.Asn659=)
|
rs542505184
|
0.00001
|
NM_000435.3(NOTCH3):c.2038C>T (p.Arg680Cys)
|
rs1250956327
|
0.00001
|
NM_000435.3(NOTCH3):c.2053C>A (p.Pro685Thr)
|
rs774900511
|
0.00001
|
NM_000435.3(NOTCH3):c.2054C>T (p.Pro685Leu)
|
rs768867865
|
0.00001
|
NM_000435.3(NOTCH3):c.2119G>A (p.Gly707Ser)
|
rs1378515982
|
0.00001
|
NM_000435.3(NOTCH3):c.2137C>T (p.Pro713Ser)
|
rs147855256
|
0.00001
|
NM_000435.3(NOTCH3):c.2145-9C>T
|
rs1228363918
|
0.00001
|
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys)
|
rs1057519101
|
0.00001
|
NM_000435.3(NOTCH3):c.2209G>A (p.Ala737Thr)
|
rs754815179
|
0.00001
|
NM_000435.3(NOTCH3):c.2225C>T (p.Pro742Leu)
|
rs780152379
|
0.00001
|
NM_000435.3(NOTCH3):c.2253C>T (p.Ser751=)
|
rs1039939758
|
0.00001
|
NM_000435.3(NOTCH3):c.2321C>G (p.Pro774Arg)
|
rs757980886
|
0.00001
|
NM_000435.3(NOTCH3):c.2331G>A (p.Pro777=)
|
rs1445735832
|
0.00001
|
NM_000435.3(NOTCH3):c.2674C>T (p.Leu892=)
|
rs773959180
|
0.00001
|
NM_000435.3(NOTCH3):c.2822A>T (p.Asp941Val)
|
rs369213416
|
0.00001
|
NM_000435.3(NOTCH3):c.2833T>A (p.Ser945Thr)
|
rs753330352
|
0.00001
|
NM_000435.3(NOTCH3):c.2887G>A (p.Ala963Thr)
|
rs199978689
|
0.00001
|
NM_000435.3(NOTCH3):c.2890G>C (p.Asp964His)
|
rs201336164
|
0.00001
|
NM_000435.3(NOTCH3):c.3057G>A (p.Gly1019=)
|
rs780520770
|
0.00001
|
NM_000435.3(NOTCH3):c.305C>T (p.Ala102Val)
|
rs1487780762
|
0.00001
|
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys)
|
rs1167405466
|
0.00001
|
NM_000435.3(NOTCH3):c.3083G>C (p.Trp1028Ser)
|
rs146829488
|
0.00001
|
NM_000435.3(NOTCH3):c.3110G>A (p.Ser1037Asn)
|
rs982964988
|
0.00001
|
NM_000435.3(NOTCH3):c.3171G>A (p.Ala1057=)
|
rs569728292
|
0.00001
|
NM_000435.3(NOTCH3):c.3226C>T (p.Arg1076Cys)
|
rs1438626607
|
0.00001
|
NM_000435.3(NOTCH3):c.3289G>A (p.Gly1097Arg)
|
rs765140794
|
0.00001
|
NM_000435.3(NOTCH3):c.3293C>A (p.Thr1098Asn)
|
rs182238142
|
0.00001
|
NM_000435.3(NOTCH3):c.329G>A (p.Arg110His)
|
rs769955930
|
0.00001
|
NM_000435.3(NOTCH3):c.3327+11G>A
|
rs777978969
|
0.00001
|
NM_000435.3(NOTCH3):c.3344A>G (p.Asn1115Ser)
|
rs1399228829
|
0.00001
|
NM_000435.3(NOTCH3):c.3356G>A (p.Cys1119Tyr)
|
rs1266914122
|
0.00001
|
NM_000435.3(NOTCH3):c.3364G>A (p.Asp1122Asn)
|
rs140147764
|
0.00001
|
NM_000435.3(NOTCH3):c.3403G>T (p.Gly1135Cys)
|
rs867379493
|
0.00001
|
NM_000435.3(NOTCH3):c.3429C>T (p.Arg1143=)
|
rs1456987143
|
0.00001
|
NM_000435.3(NOTCH3):c.3463G>T (p.Val1155Leu)
|
rs762281787
|
0.00001
|
NM_000435.3(NOTCH3):c.3552C>G (p.Asp1184Glu)
|
rs763112778
|
0.00001
|
NM_000435.3(NOTCH3):c.3718+6C>T
|
rs545768883
|
0.00001
|
NM_000435.3(NOTCH3):c.3762A>G (p.Pro1254=)
|
rs1164302784
|
0.00001
|
NM_000435.3(NOTCH3):c.3837+11G>A
|
rs752485887
|
0.00001
|
NM_000435.3(NOTCH3):c.3858C>T (p.Cys1286=)
|
rs1270546423
|
0.00001
|
NM_000435.3(NOTCH3):c.3919A>G (p.Thr1307Ala)
|
rs1331244525
|
0.00001
|
NM_000435.3(NOTCH3):c.3946C>T (p.Pro1316Ser)
|
rs1173886086
|
0.00001
|
NM_000435.3(NOTCH3):c.4112G>T (p.Arg1371Leu)
|
rs1177188516
|
0.00001
|
NM_000435.3(NOTCH3):c.4347C>T (p.Pro1449=)
|
rs747087788
|
0.00001
|
NM_000435.3(NOTCH3):c.4381G>A (p.Gly1461Ser)
|
rs1309726793
|
0.00001
|
NM_000435.3(NOTCH3):c.4406C>G (p.Pro1469Arg)
|
rs779132149
|
0.00001
|
NM_000435.3(NOTCH3):c.4647G>A (p.Ala1549=)
|
rs561981488
|
0.00001
|
NM_000435.3(NOTCH3):c.467G>A (p.Arg156Gln)
|
rs142492710
|
0.00001
|
NM_000435.3(NOTCH3):c.4782G>C (p.Ser1594=)
|
rs748774860
|
0.00001
|
NM_000435.3(NOTCH3):c.4839G>A (p.Ala1613=)
|
rs766735679
|
0.00001
|
NM_000435.3(NOTCH3):c.5006G>A (p.Arg1669His)
|
rs1184522923
|
0.00001
|
NM_000435.3(NOTCH3):c.5007C>A (p.Arg1669=)
|
rs778849094
|
0.00001
|
NM_000435.3(NOTCH3):c.5088C>T (p.Pro1696=)
|
rs760075953
|
0.00001
|
NM_000435.3(NOTCH3):c.5114+9C>G
|
rs199791632
|
0.00001
|
NM_000435.3(NOTCH3):c.5164A>G (p.Met1722Val)
|
rs1307548749
|
0.00001
|
NM_000435.3(NOTCH3):c.5203G>A (p.Glu1735Lys)
|
rs959827952
|
0.00001
|
NM_000435.3(NOTCH3):c.5281C>T (p.Arg1761Cys)
|
rs771814027
|
0.00001
|
NM_000435.3(NOTCH3):c.5398G>T (p.Gly1800Trp)
|
rs1012192046
|
0.00001
|
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys)
|
rs28933697
|
0.00001
|
NM_000435.3(NOTCH3):c.5501G>A (p.Arg1834Gln)
|
rs202027632
|
0.00001
|
NM_000435.3(NOTCH3):c.553T>C (p.Cys185Arg)
|
rs1568361844
|
0.00001
|
NM_000435.3(NOTCH3):c.5617C>T (p.Arg1873Cys)
|
rs749429793
|
0.00001
|
NM_000435.3(NOTCH3):c.5742C>G (p.Ala1914=)
|
rs1315733874
|
0.00001
|
NM_000435.3(NOTCH3):c.5779G>A (p.Ala1927Thr)
|
rs748889237
|
0.00001
|
NM_000435.3(NOTCH3):c.5847G>C (p.Val1949=)
|
rs755298990
|
0.00001
|
NM_000435.3(NOTCH3):c.5864C>T (p.Thr1955Ile)
|
rs574900839
|
0.00001
|
NM_000435.3(NOTCH3):c.6025C>T (p.Arg2009Trp)
|
rs151322770
|
0.00001
|
NM_000435.3(NOTCH3):c.6101C>G (p.Pro2034Arg)
|
rs751050359
|
0.00001
|
NM_000435.3(NOTCH3):c.6130T>C (p.Cys2044Arg)
|
rs2046642679
|
0.00001
|
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys)
|
rs775267348
|
0.00001
|
NM_000435.3(NOTCH3):c.6210G>A (p.Ala2070=)
|
rs899099426
|
0.00001
|
NM_000435.3(NOTCH3):c.6242G>T (p.Gly2081Val)
|
rs141231747
|
0.00001
|
NM_000435.3(NOTCH3):c.6254C>T (p.Thr2085Met)
|
rs1199803741
|
0.00001
|
NM_000435.3(NOTCH3):c.6255G>A (p.Thr2085=)
|
rs967649457
|
0.00001
|
NM_000435.3(NOTCH3):c.625G>A (p.Gly209Arg)
|
rs776600631
|
0.00001
|
NM_000435.3(NOTCH3):c.6325C>T (p.Arg2109Trp)
|
rs199995195
|
0.00001
|
NM_000435.3(NOTCH3):c.6333C>T (p.Phe2111=)
|
rs764987454
|
0.00001
|
NM_000435.3(NOTCH3):c.6395C>T (p.Ala2132Val)
|
rs1300230282
|
0.00001
|
NM_000435.3(NOTCH3):c.6429A>G (p.Pro2143=)
|
rs890365920
|
0.00001
|
NM_000435.3(NOTCH3):c.6434G>A (p.Arg2145Gln)
|
rs776779400
|
0.00001
|
NM_000435.3(NOTCH3):c.6440G>A (p.Gly2147Asp)
|
rs897705605
|
0.00001
|
NM_000435.3(NOTCH3):c.6510C>T (p.Leu2170=)
|
rs754442174
|
0.00001
|
NM_000435.3(NOTCH3):c.6522G>C (p.Arg2174=)
|
rs1280248640
|
0.00001
|
NM_000435.3(NOTCH3):c.6597G>A (p.Gly2199=)
|
rs778851827
|
0.00001
|
NM_000435.3(NOTCH3):c.6627G>A (p.Pro2209=)
|
rs760880486
|
0.00001
|
NM_000435.3(NOTCH3):c.6654C>T (p.Gly2218=)
|
rs528209250
|
0.00001
|
NM_000435.3(NOTCH3):c.6665C>T (p.Pro2222Leu)
|
rs1489373939
|
0.00001
|
NM_000435.3(NOTCH3):c.6701G>A (p.Arg2234His)
|
rs750631177
|
0.00001
|
NM_000435.3(NOTCH3):c.6774C>T (p.Pro2258=)
|
rs775043966
|
0.00001
|
NM_000435.3(NOTCH3):c.6924G>A (p.Gly2308=)
|
rs753654158
|
0.00001
|
NM_000435.3(NOTCH3):c.708C>T (p.Asn236=)
|
rs766045217
|
0.00001
|
NM_000435.3(NOTCH3):c.730C>T (p.Arg244Ter)
|
rs2046929318
|
0.00001
|
NM_000435.3(NOTCH3):c.772T>C (p.Tyr258His)
|
rs887378958
|
0.00001
|
NM_000435.3(NOTCH3):c.786C>T (p.Cys262=)
|
rs748238171
|
0.00001
|
NM_000435.3(NOTCH3):c.882G>T (p.Thr294=)
|
rs998446906
|
0.00001
|
NM_000435.3(NOTCH3):c.93G>C (p.Leu31=)
|
rs1246904148
|
0.00001
|
NC_000019.10:g.15201219C>A
|
rs11882186
|
|
NC_000019.9:g.(?_15284859)_(15311716_?)dup
|
|
|
NM_000435.3(NOTCH3):c.*286_*288del
|
|
|
NM_000435.3(NOTCH3):c.1000G>C (p.Ala334Pro)
|
|
|
NM_000435.3(NOTCH3):c.1003T>G (p.Ser335Ala)
|
rs2145439645
|
|
NM_000435.3(NOTCH3):c.1013G>T (p.Cys338Phe)
|
|
|
NM_000435.3(NOTCH3):c.1019G>A (p.Cys340Tyr)
|
|
|
NM_000435.3(NOTCH3):c.1024A>G (p.Met342Val)
|
|
|
NM_000435.3(NOTCH3):c.1026G>A (p.Met342Ile)
|
|
|
NM_000435.3(NOTCH3):c.1027G>C (p.Gly343Arg)
|
rs1599393810
|
|
NM_000435.3(NOTCH3):c.1036+15dup
|
|
|
NM_000435.3(NOTCH3):c.1036+18C>T
|
|
|
NM_000435.3(NOTCH3):c.1036+20G>T
|
rs746793327
|
|
NM_000435.3(NOTCH3):c.1037-19del
|
rs751607564
|
|
NM_000435.3(NOTCH3):c.1037-20T>G
|
|
|
NM_000435.3(NOTCH3):c.1044G>A (p.Leu348=)
|
|
|
NM_000435.3(NOTCH3):c.1047T>C (p.Cys349=)
|
rs1441855773
|
|
NM_000435.3(NOTCH3):c.1051C>A (p.Leu351Met)
|
rs1599392148
|
|
NM_000435.3(NOTCH3):c.1053G>A (p.Leu351=)
|
|
|
NM_000435.3(NOTCH3):c.1057_1071dup (p.Ser357_Asn358insAspAlaCysValSer)
|
|
|
NM_000435.3(NOTCH3):c.1063T>A (p.Cys355Ser)
|
|
|
NM_000435.3(NOTCH3):c.1066G>A (p.Val356Ile)
|
rs1599392135
|
|
NM_000435.3(NOTCH3):c.1075C>G (p.Pro359Ala)
|
rs2046910565
|
|
NM_000435.3(NOTCH3):c.108G>A (p.Pro36=)
|
|
|
NM_000435.3(NOTCH3):c.1109C>T (p.Pro370Leu)
|
|
|
NM_000435.3(NOTCH3):c.1116C>G (p.Asn372Lys)
|
|
|
NM_000435.3(NOTCH3):c.1117G>T (p.Gly373Cys)
|
rs1435305678
|
|
NM_000435.3(NOTCH3):c.1120C>T (p.Arg374Trp)
|
rs867723391
|
|
NM_000435.3(NOTCH3):c.1121G>A (p.Arg374Gln)
|
|
|
NM_000435.3(NOTCH3):c.1122G>C (p.Arg374=)
|
|
|
NM_000435.3(NOTCH3):c.112G>T (p.Ala38Ser)
|
|
|
NM_000435.3(NOTCH3):c.1134C>A (p.Thr378=)
|
|
|
NM_000435.3(NOTCH3):c.1135T>G (p.Cys379Gly)
|
rs1555729105
|
|
NM_000435.3(NOTCH3):c.1136G>C (p.Cys379Ser)
|
rs1599391986
|
|
NM_000435.3(NOTCH3):c.1143C>T (p.Pro381=)
|
|
|
NM_000435.3(NOTCH3):c.1144G>T (p.Gly382Cys)
|
rs2145437046
|
|
NM_000435.3(NOTCH3):c.1146C>T (p.Gly382=)
|
|
|
NM_000435.3(NOTCH3):c.1151C>T (p.Thr384Met)
|
|
|
NM_000435.3(NOTCH3):c.1153G>A (p.Gly385Ser)
|
rs1568360640
|
|
NM_000435.3(NOTCH3):c.1177G>A (p.Asp393Asn)
|
|
|
NM_000435.3(NOTCH3):c.1179C>A (p.Asp393Glu)
|
|
|
NM_000435.3(NOTCH3):c.1179C>T (p.Asp393=)
|
rs753211079
|
|
NM_000435.3(NOTCH3):c.118+15C>G
|
rs2145457325
|
|
NM_000435.3(NOTCH3):c.1182G>T (p.Glu394Asp)
|
|
|
NM_000435.3(NOTCH3):c.1184G>A (p.Cys395Tyr)
|
|
|
NM_000435.3(NOTCH3):c.1187C>G (p.Ser396Cys)
|
rs863225297
|
|
NM_000435.3(NOTCH3):c.119-19T>C
|
|
|
NM_000435.3(NOTCH3):c.119-7C>T
|
|
|
NM_000435.3(NOTCH3):c.1191C>T (p.Ile397=)
|
|
|
NM_000435.3(NOTCH3):c.1193-10C>T
|
|
|
NM_000435.3(NOTCH3):c.1193-17C>T
|
|
|
NM_000435.3(NOTCH3):c.1193-4G>T
|
|
|
NM_000435.3(NOTCH3):c.1193-5G>A
|
|
|
NM_000435.3(NOTCH3):c.1195G>A (p.Ala399Thr)
|
rs1390414547
|
|
NM_000435.3(NOTCH3):c.1204T>A (p.Cys402Ser)
|
rs1568360524
|
|
NM_000435.3(NOTCH3):c.120C>T (p.Ala40=)
|
rs146904189
|
|
NM_000435.3(NOTCH3):c.1216G>T (p.Gly406Cys)
|
rs2046907944
|
|
NM_000435.3(NOTCH3):c.1223G>A (p.Cys408Tyr)
|
|
|
NM_000435.3(NOTCH3):c.1223G>T (p.Cys408Phe)
|
|
|
NM_000435.3(NOTCH3):c.1224C>T (p.Cys408=)
|
|
|
NM_000435.3(NOTCH3):c.1235A>G (p.Gln412Arg)
|
rs1131691934
|
|
NM_000435.3(NOTCH3):c.1241C>G (p.Ser414Cys)
|
rs2145436403
|
|
NM_000435.3(NOTCH3):c.1255T>C (p.Cys419Arg)
|
|
|
NM_000435.3(NOTCH3):c.1255T>G (p.Cys419Gly)
|
rs1555729070
|
|
NM_000435.3(NOTCH3):c.1258G>T (p.Gly420Cys)
|
rs1323608032
|
|
NM_000435.3(NOTCH3):c.125dup (p.Cys43fs)
|
|
|
NM_000435.3(NOTCH3):c.1261C>T (p.Arg421Cys)
|
rs1555729068
|
|
NM_000435.3(NOTCH3):c.1262G>A (p.Arg421His)
|
rs2145436323
|
|
NM_000435.3(NOTCH3):c.1268A>G (p.Tyr423Cys)
|
rs1555729064
|
|
NM_000435.3(NOTCH3):c.1279C>T (p.Arg427Cys)
|
rs1599391536
|
|
NM_000435.3(NOTCH3):c.1282T>C (p.Cys428Arg)
|
|
|
NM_000435.3(NOTCH3):c.1283G>A (p.Cys428Tyr)
|
rs1568360455
|
|
NM_000435.3(NOTCH3):c.1283G>T (p.Cys428Phe)
|
|
|
NM_000435.3(NOTCH3):c.128G>A (p.Cys43Tyr)
|
rs1555730204
|
|
NM_000435.3(NOTCH3):c.128G>T (p.Cys43Phe)
|
|
|
NM_000435.3(NOTCH3):c.128_129delinsAT (p.Cys43Tyr)
|
|
|
NM_000435.3(NOTCH3):c.1298A>G (p.Asn433Ser)
|
|
|
NM_000435.3(NOTCH3):c.1303T>C (p.Cys435Arg)
|
|
|
NM_000435.3(NOTCH3):c.1304G>A (p.Cys435Tyr)
|
|
|
NM_000435.3(NOTCH3):c.1305T>G (p.Cys435Trp)
|
rs2046907170
|
|
NM_000435.3(NOTCH3):c.1308G>A (p.Leu436=)
|
|
|
NM_000435.3(NOTCH3):c.1313G>T (p.Gly438Val)
|
|
|
NM_000435.3(NOTCH3):c.1321C>G (p.Arg441Gly)
|
|
|
NM_000435.3(NOTCH3):c.1322G>A (p.Arg441Gln)
|
|
|
NM_000435.3(NOTCH3):c.1327C>T (p.Gln443Ter)
|
|
|
NM_000435.3(NOTCH3):c.1337G>T (p.Cys446Phe)
|
rs1568360410
|
|
NM_000435.3(NOTCH3):c.1345C>T (p.Arg449Cys)
|
rs762734007
|
|
NM_000435.3(NOTCH3):c.1349T>G (p.Ile450Arg)
|
|
|
NM_000435.3(NOTCH3):c.1363T>A (p.Cys455Ser)
|
rs28933698
|
|
NM_000435.3(NOTCH3):c.1363T>C (p.Cys455Arg)
|
rs28933698
|
|
NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr)
|
rs886041513
|
|
NM_000435.3(NOTCH3):c.1364G>T (p.Cys455Phe)
|
rs886041513
|
|
NM_000435.3(NOTCH3):c.1368_1369del (p.Ile456fs)
|
rs2145435979
|
|
NM_000435.3(NOTCH3):c.1369T>C (p.Cys457Arg)
|
|
|
NM_000435.3(NOTCH3):c.1369T>G (p.Cys457Gly)
|
|
|
NM_000435.3(NOTCH3):c.1370G>A (p.Cys457Tyr)
|
|
|
NM_000435.3(NOTCH3):c.1370G>C (p.Cys457Ser)
|
|
|
NM_000435.3(NOTCH3):c.1375G>C (p.Ala459Pro)
|
rs370186772
|
|
NM_000435.3(NOTCH3):c.1377A>T (p.Ala459=)
|
|
|
NM_000435.3(NOTCH3):c.1378+15T>A
|
|
|
NM_000435.3(NOTCH3):c.1378+19C>T
|
|
|
NM_000435.3(NOTCH3):c.1379-5C>T
|
|
|
NM_000435.3(NOTCH3):c.1385C>T (p.Thr462Ile)
|
|
|
NM_000435.3(NOTCH3):c.1392C>G (p.Thr464=)
|
rs1599390667
|
|
NM_000435.3(NOTCH3):c.139A>G (p.Ser47Gly)
|
rs775259883
|
|
NM_000435.3(NOTCH3):c.1414G>A (p.Glu472Lys)
|
|
|
NM_000435.3(NOTCH3):c.1426A>T (p.Ser476Cys)
|
rs886054260
|
|
NM_000435.3(NOTCH3):c.1432T>A (p.Cys478Ser)
|
rs2046900264
|
|
NM_000435.3(NOTCH3):c.1433G>A (p.Cys478Tyr)
|
rs1568360142
|
|
NM_000435.3(NOTCH3):c.1441G>T (p.Gly481Cys)
|
rs1263780227
|
|
NM_000435.3(NOTCH3):c.1449C>T (p.Val483=)
|
|
|
NM_000435.3(NOTCH3):c.1450T>A (p.Cys484Ser)
|
|
|
NM_000435.3(NOTCH3):c.1451G>A (p.Cys484Tyr)
|
rs1313319587
|
|
NM_000435.3(NOTCH3):c.1451G>T (p.Cys484Phe)
|
rs1313319587
|
|
NM_000435.3(NOTCH3):c.145T>C (p.Cys49Arg)
|
rs1555730197
|
|
NM_000435.3(NOTCH3):c.145T>G (p.Cys49Gly)
|
rs1555730197
|
|
NM_000435.3(NOTCH3):c.146G>A (p.Cys49Tyr)
|
rs193921045
|
|
NM_000435.3(NOTCH3):c.146G>T (p.Cys49Phe)
|
rs193921045
|
|
NM_000435.3(NOTCH3):c.1474A>T (p.Ser492Cys)
|
rs2046899820
|
|
NM_000435.3(NOTCH3):c.1488C>G (p.Pro496=)
|
|
|
NM_000435.3(NOTCH3):c.1490C>G (p.Ser497Trp)
|
|
|
NM_000435.3(NOTCH3):c.1492+1G>A
|
|
|
NM_000435.3(NOTCH3):c.1492+2T>C
|
|
|
NM_000435.3(NOTCH3):c.1493-13C>T
|
rs981235130
|
|
NM_000435.3(NOTCH3):c.1508C>T (p.Thr503Met)
|
|
|
NM_000435.3(NOTCH3):c.1510T>A (p.Cys504Ser)
|
rs2145434432
|
|
NM_000435.3(NOTCH3):c.1510T>G (p.Cys504Gly)
|
|
|
NM_000435.3(NOTCH3):c.1511G>A (p.Cys504Tyr)
|
|
|
NM_000435.3(NOTCH3):c.1512T>G (p.Cys504Trp)
|
|
|
NM_000435.3(NOTCH3):c.1522G>T (p.Val508Leu)
|
|
|
NM_000435.3(NOTCH3):c.1531T>A (p.Cys511Ser)
|
|
|
NM_000435.3(NOTCH3):c.1531T>C (p.Cys511Arg)
|
|
|
NM_000435.3(NOTCH3):c.1532G>A (p.Cys511Tyr)
|
rs2046897213
|
|
NM_000435.3(NOTCH3):c.1533C>G (p.Cys511Trp)
|
|
|
NM_000435.3(NOTCH3):c.1534G>A (p.Ala512Thr)
|
|
|
NM_000435.3(NOTCH3):c.1547G>A (p.Cys516Tyr)
|
rs2046897026
|
|
NM_000435.3(NOTCH3):c.1547G>T (p.Cys516Phe)
|
rs2046897026
|
|
NM_000435.3(NOTCH3):c.1561_1569dup (p.Val523_Asp524insLysCysVal)
|
|
|
NM_000435.3(NOTCH3):c.1565G>C (p.Cys522Ser)
|
|
|
NM_000435.3(NOTCH3):c.1566C>G (p.Cys522Trp)
|
|
|
NM_000435.3(NOTCH3):c.1572C>G (p.Asp524Glu)
|
|
|
NM_000435.3(NOTCH3):c.1576C>T (p.Pro526Ser)
|
|
|
NM_000435.3(NOTCH3):c.1582G>T (p.Gly528Cys)
|
|
|
NM_000435.3(NOTCH3):c.1591T>G (p.Cys531Gly)
|
rs2145434233
|
|
NM_000435.3(NOTCH3):c.1597T>C (p.Cys533Arg)
|
rs1555728898
|
|
NM_000435.3(NOTCH3):c.1602C>T (p.Ala534=)
|
rs1275069380
|
|
NM_000435.3(NOTCH3):c.1606+6G>T
|
|
|
NM_000435.3(NOTCH3):c.1607-11T>C
|
|
|
NM_000435.3(NOTCH3):c.1607-14T>C
|
|
|
NM_000435.3(NOTCH3):c.1607-5C>T
|
rs372869012
|
|
NM_000435.3(NOTCH3):c.1607-6C>T
|
|
|
NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys)
|
rs1555730189
|
|
NM_000435.3(NOTCH3):c.1619C>G (p.Thr540Arg)
|
|
|
NM_000435.3(NOTCH3):c.161G>A (p.Arg54His)
|
rs754104109
|
|
NM_000435.3(NOTCH3):c.1620G>T (p.Thr540=)
|
rs75617410
|
|
NM_000435.3(NOTCH3):c.1621C>A (p.Leu541Met)
|
rs1410670785
|
|
NM_000435.3(NOTCH3):c.1624T>C (p.Cys542Arg)
|
rs2145433361
|
|
NM_000435.3(NOTCH3):c.1625G>A (p.Cys542Tyr)
|
|
|
NM_000435.3(NOTCH3):c.1635C>G (p.Asn545Lys)
|
|
|
NM_000435.3(NOTCH3):c.1635C>T (p.Asn545=)
|
|
|
NM_000435.3(NOTCH3):c.163T>C (p.Cys55Arg)
|
rs1568363980
|
|
NM_000435.3(NOTCH3):c.1641C>T (p.Asp547=)
|
|
|
NM_000435.3(NOTCH3):c.1646G>A (p.Cys549Tyr)
|
rs1555728814
|
|
NM_000435.3(NOTCH3):c.1646G>C (p.Cys549Ser)
|
|
|
NM_000435.3(NOTCH3):c.164G>A (p.Cys55Tyr)
|
rs1555730188
|
|
NM_000435.3(NOTCH3):c.1651C>T (p.Pro551Ser)
|
|
|
NM_000435.3(NOTCH3):c.1669G>T (p.Gly557Cys)
|
rs1317994194
|
|
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys)
|
rs75068032
|
|
NM_000435.3(NOTCH3):c.1673G>A (p.Arg558His)
|
|
|
NM_000435.3(NOTCH3):c.1675T>G (p.Cys559Gly)
|
|
|
NM_000435.3(NOTCH3):c.1698C>G (p.Phe566Leu)
|
|
|
NM_000435.3(NOTCH3):c.1701A>C (p.Ser567=)
|
rs1599389297
|
|
NM_000435.3(NOTCH3):c.1709G>T (p.Cys570Phe)
|
rs2145433085
|
|
NM_000435.3(NOTCH3):c.1715C>T (p.Pro572Leu)
|
|
|
NM_000435.3(NOTCH3):c.1720T>C (p.Tyr574His)
|
rs1358697792
|
|
NM_000435.3(NOTCH3):c.1720_1755delinsCTG (p.Tyr574_Glu585delinsLeu)
|
|
|
NM_000435.3(NOTCH3):c.1725G>A (p.Thr575=)
|
rs79926127
|
|
NM_000435.3(NOTCH3):c.1725G>C (p.Thr575=)
|
rs79926127
|
|
NM_000435.3(NOTCH3):c.1726G>A (p.Gly576Ser)
|
|
|
NM_000435.3(NOTCH3):c.1732C>A (p.Arg578Ser)
|
|
|
NM_000435.3(NOTCH3):c.1736G>A (p.Cys579Tyr)
|
rs2145433000
|
|
NM_000435.3(NOTCH3):c.1749G>A (p.Val583=)
|
|
|
NM_000435.3(NOTCH3):c.174G>T (p.Leu58=)
|
|
|
NM_000435.3(NOTCH3):c.1756T>C (p.Cys586Arg)
|
|
|
NM_000435.3(NOTCH3):c.1759C>A (p.Arg587Ser)
|
|
|
NM_000435.3(NOTCH3):c.1759C>T (p.Arg587Cys)
|
rs754554486
|
|
NM_000435.3(NOTCH3):c.1774C>T (p.Arg592Cys)
|
rs764148985
|
|
NM_000435.3(NOTCH3):c.1775G>T (p.Arg592Leu)
|
rs763115768
|
|
NM_000435.3(NOTCH3):c.1790G>A (p.Cys597Tyr)
|
rs2046888772
|
|
NM_000435.3(NOTCH3):c.1797C>G (p.Asp599Glu)
|
|
|
NM_000435.3(NOTCH3):c.1808A>G (p.Lys603Arg)
|
rs1057519102
|
|
NM_000435.3(NOTCH3):c.1811A>G (p.Tyr604Cys)
|
|
|
NM_000435.3(NOTCH3):c.1816T>C (p.Cys606Arg)
|
rs1568359346
|
|
NM_000435.3(NOTCH3):c.1817G>A (p.Cys606Tyr)
|
|
|
NM_000435.3(NOTCH3):c.1820G>A (p.Arg607His)
|
|
|
NM_000435.3(NOTCH3):c.1822T>C (p.Cys608Arg)
|
|
|
NM_000435.3(NOTCH3):c.1823G>A (p.Cys608Tyr)
|
rs778350156
|
|
NM_000435.3(NOTCH3):c.182G>A (p.Arg61Gln)
|
|
|
NM_000435.3(NOTCH3):c.1840+10G>C
|
|
|
NM_000435.3(NOTCH3):c.1840+18G>A
|
|
|
NM_000435.3(NOTCH3):c.1840+3G>A
|
rs2046888185
|
|
NM_000435.3(NOTCH3):c.1841-17A>G
|
|
|
NM_000435.3(NOTCH3):c.1841-6C>A
|
|
|
NM_000435.3(NOTCH3):c.1849T>C (p.Cys617Arg)
|
rs2145432499
|
|
NM_000435.3(NOTCH3):c.1866C>T (p.Asp622=)
|
|
|
NM_000435.3(NOTCH3):c.1867G>A (p.Asp623Asn)
|
|
|
NM_000435.3(NOTCH3):c.1871G>A (p.Cys624Tyr)
|
rs758997426
|
|
NM_000435.3(NOTCH3):c.1883C>A (p.Pro628His)
|
|
|
NM_000435.3(NOTCH3):c.1888A>G (p.Thr630Ala)
|
|
|
NM_000435.3(NOTCH3):c.1890C>T (p.Thr630=)
|
|
|
NM_000435.3(NOTCH3):c.1893T>C (p.Phe631=)
|
rs1217549230
|
|
NM_000435.3(NOTCH3):c.1903C>T (p.Arg635Cys)
|
rs753801611
|
|
NM_000435.3(NOTCH3):c.1913T>C (p.Ile638Thr)
|
rs2145432343
|
|
NM_000435.3(NOTCH3):c.1919G>A (p.Arg640His)
|
|
|
NM_000435.3(NOTCH3):c.191C>A (p.Ala64Asp)
|
|
|
NM_000435.3(NOTCH3):c.1930G>A (p.Val644Ile)
|
|
|
NM_000435.3(NOTCH3):c.193T>G (p.Cys65Gly)
|
rs1555730177
|
|
NM_000435.3(NOTCH3):c.194G>A (p.Cys65Tyr)
|
rs1555730176
|
|
NM_000435.3(NOTCH3):c.194G>C (p.Cys65Ser)
|
rs1555730176
|
|
NM_000435.3(NOTCH3):c.1951+16C>T
|
|
|
NM_000435.3(NOTCH3):c.1951+38C>G
|
rs78329155
|
|
NM_000435.3(NOTCH3):c.1951+38C>T
|
rs78329155
|
|
NM_000435.3(NOTCH3):c.1952-11G>T
|
|
|
NM_000435.3(NOTCH3):c.1952-13G>A
|
|
|
NM_000435.3(NOTCH3):c.1952-15T>C
|
|
|
NM_000435.3(NOTCH3):c.1956C>G (p.Pro652=)
|
|
|
NM_000435.3(NOTCH3):c.1957C>A (p.Leu653Ile)
|
rs1336688514
|
|
NM_000435.3(NOTCH3):c.1957C>T (p.Leu653Phe)
|
|
|
NM_000435.3(NOTCH3):c.1965C>T (p.Asn655=)
|
|
|
NM_000435.3(NOTCH3):c.1966G>C (p.Val656Leu)
|
rs560752299
|
|
NM_000435.3(NOTCH3):c.197+243A>G
|
rs10417567
|
|
NM_000435.3(NOTCH3):c.197+46C>G
|
rs542120843
|
|
NM_000435.3(NOTCH3):c.197+8C>T
|
|
|
NM_000435.3(NOTCH3):c.1972A>T (p.Ile658Phe)
|
|
|
NM_000435.3(NOTCH3):c.1973T>C (p.Ile658Thr)
|
|
|
NM_000435.3(NOTCH3):c.1998C>T (p.Cys666=)
|
|
|
NM_000435.3(NOTCH3):c.1999G>T (p.Gly667Cys)
|
rs376046941
|
|
NM_000435.3(NOTCH3):c.199T>A (p.Cys67Ser)
|
|
|
NM_000435.3(NOTCH3):c.200G>T (p.Cys67Phe)
|
rs1555729615
|
|
NM_000435.3(NOTCH3):c.2011T>A (p.Ser671Thr)
|
|
|
NM_000435.3(NOTCH3):c.2033G>A (p.Gly678Asp)
|
rs1599387375
|
|
NM_000435.3(NOTCH3):c.2052G>A (p.Pro684=)
|
|
|
NM_000435.3(NOTCH3):c.2071C>A (p.Leu691Ile)
|
|
|
NM_000435.3(NOTCH3):c.2085G>A (p.Pro695=)
|
|
|
NM_000435.3(NOTCH3):c.2085G>C (p.Pro695=)
|
rs758126818
|
|
NM_000435.3(NOTCH3):c.208G>T (p.Gly70Cys)
|
|
|
NM_000435.3(NOTCH3):c.2091T>A (p.His697Gln)
|
|
|
NM_000435.3(NOTCH3):c.212_229dup (p.Cys76_Gln77insArgValGlyGluArgCys)
|
rs2145443744
|
|
NM_000435.3(NOTCH3):c.2130T>C (p.Tyr710=)
|
|
|
NM_000435.3(NOTCH3):c.213G>C (p.Trp71Cys)
|
|
|
NM_000435.3(NOTCH3):c.213G>T (p.Trp71Cys)
|
rs28937321
|
|
NM_000435.3(NOTCH3):c.2145-14C>A
|
|
|
NM_000435.3(NOTCH3):c.2150G>A (p.Arg717His)
|
|
|
NM_000435.3(NOTCH3):c.2163G>A (p.Glu721=)
|
rs375173938
|
|
NM_000435.3(NOTCH3):c.2169C>T (p.Gly723=)
|
|
|
NM_000435.3(NOTCH3):c.2180C>T (p.Pro727Leu)
|
rs2046872807
|
|
NM_000435.3(NOTCH3):c.218G>T (p.Gly73Val)
|
|
|
NM_000435.3(NOTCH3):c.21CCG[4] (p.Arg13del)
|
rs894374843
|
|
NM_000435.3(NOTCH3):c.21CCG[6] (p.Arg13dup)
|
rs894374843
|
|
NM_000435.3(NOTCH3):c.2208C>G (p.Asp736Glu)
|
|
|
NM_000435.3(NOTCH3):c.2217G>T (p.Glu739Asp)
|
|
|
NM_000435.3(NOTCH3):c.2228G>A (p.Cys743Tyr)
|
|
|
NM_000435.3(NOTCH3):c.2236G>A (p.Gly746Ser)
|
|
|
NM_000435.3(NOTCH3):c.2236G>T (p.Gly746Cys)
|
|
|
NM_000435.3(NOTCH3):c.224G>C (p.Arg75Pro)
|
rs145069047
|
|
NM_000435.3(NOTCH3):c.226T>A (p.Cys76Ser)
|
rs1555729610
|
|
NM_000435.3(NOTCH3):c.226T>C (p.Cys76Arg)
|
rs1555729610
|
|
NM_000435.3(NOTCH3):c.227G>A (p.Cys76Tyr)
|
rs1568362252
|
|
NM_000435.3(NOTCH3):c.227_228dup (p.Gln77fs)
|
rs2145443760
|
|
NM_000435.3(NOTCH3):c.2296+3G>T
|
rs2145429314
|
|
NM_000435.3(NOTCH3):c.2297-11A>G
|
|
|
NM_000435.3(NOTCH3):c.2318C>A (p.Ser773Tyr)
|
rs2145428834
|
|
NM_000435.3(NOTCH3):c.231G>C (p.Gln77His)
|
rs1438944422
|
|
NM_000435.3(NOTCH3):c.2330C>T (p.Pro777Leu)
|
|
|
NM_000435.3(NOTCH3):c.2334C>T (p.Asn778=)
|
|
|
NM_000435.3(NOTCH3):c.2335C>G (p.Pro779Ala)
|
|
|
NM_000435.3(NOTCH3):c.2341G>A (p.Glu781Lys)
|
rs2145428734
|
|
NM_000435.3(NOTCH3):c.2353C>T (p.Arg785Cys)
|
|
|
NM_000435.3(NOTCH3):c.2369C>T (p.Pro790Leu)
|
rs2145428626
|
|
NM_000435.3(NOTCH3):c.2377C>T (p.Leu793=)
|
|
|
NM_000435.3(NOTCH3):c.2394C>A (p.Cys798Ter)
|
|
|
NM_000435.3(NOTCH3):c.2398dup (p.Gln800fs)
|
|
|
NM_000435.3(NOTCH3):c.239A>G (p.Asp80Gly)
|
rs1599395616
|
|
NM_000435.3(NOTCH3):c.2410+12G>T
|
|
|
NM_000435.3(NOTCH3):c.2410+15dup
|
rs747731340
|
|
NM_000435.3(NOTCH3):c.2411-19C>A
|
rs556597921
|
|
NM_000435.3(NOTCH3):c.2411-4C>T
|
|
|
NM_000435.3(NOTCH3):c.2448C>A (p.Gly816=)
|
|
|
NM_000435.3(NOTCH3):c.244T>C (p.Cys82Arg)
|
rs2046937845
|
|
NM_000435.3(NOTCH3):c.244T>G (p.Cys82Gly)
|
rs2046937845
|
|
NM_000435.3(NOTCH3):c.2450C>G (p.Pro817Arg)
|
|
|
NM_000435.3(NOTCH3):c.2456C>A (p.Pro819His)
|
rs2145427778
|
|
NM_000435.3(NOTCH3):c.245G>T (p.Cys82Phe)
|
rs1023306013
|
|
NM_000435.3(NOTCH3):c.2460T>G (p.Cys820Trp)
|
|
|
NM_000435.3(NOTCH3):c.2464C>T (p.Pro822Ser)
|
rs1469970917
|
|
NM_000435.3(NOTCH3):c.2467C>A (p.His823Asn)
|
|
|
NM_000435.3(NOTCH3):c.2499C>T (p.Phe833=)
|
|
|
NM_000435.3(NOTCH3):c.2507C>A (p.Thr836Asn)
|
rs34338511
|
|
NM_000435.3(NOTCH3):c.2522A>G (p.Tyr841Cys)
|
|
|
NM_000435.3(NOTCH3):c.2525C>G (p.Thr842Ser)
|
rs1215184250
|
|
NM_000435.3(NOTCH3):c.252_253del (p.Gly85fs)
|
|
|
NM_000435.3(NOTCH3):c.2539G>A (p.Asp847Asn)
|
|
|
NM_000435.3(NOTCH3):c.2542C>G (p.Gln848Glu)
|
|
|
NM_000435.3(NOTCH3):c.2557T>C (p.Cys853Arg)
|
rs1568357588
|
|
NM_000435.3(NOTCH3):c.2565del (p.Asn856fs)
|
|
|
NM_000435.3(NOTCH3):c.2567-4G>A
|
|
|
NM_000435.3(NOTCH3):c.259T>C (p.Cys87Arg)
|
rs1568362232
|
|
NM_000435.3(NOTCH3):c.260G>A (p.Cys87Tyr)
|
|
|
NM_000435.3(NOTCH3):c.2626del (p.Leu876fs)
|
|
|
NM_000435.3(NOTCH3):c.2632G>A (p.Gly878Ser)
|
|
|
NM_000435.3(NOTCH3):c.2632G>C (p.Gly878Arg)
|
|
|
NM_000435.3(NOTCH3):c.2641G>A (p.Gly881Ser)
|
rs1436528088
|
|
NM_000435.3(NOTCH3):c.2645C>T (p.Pro882Leu)
|
rs760472019
|
|
NM_000435.3(NOTCH3):c.2652C>G (p.Cys884Trp)
|
|
|
NM_000435.3(NOTCH3):c.2657G>A (p.Arg886His)
|
rs1275201697
|
|
NM_000435.3(NOTCH3):c.265G>T (p.Gly89Cys)
|
|
|
NM_000435.3(NOTCH3):c.2660A>C (p.Asp887Ala)
|
|
|
NM_000435.3(NOTCH3):c.268C>T (p.Arg90Cys)
|
rs1555729604
|
|
NM_000435.3(NOTCH3):c.2694G>A (p.Pro898=)
|
|
|
NM_000435.3(NOTCH3):c.2699C>T (p.Thr900Ile)
|
|
|
NM_000435.3(NOTCH3):c.2713G>A (p.Val905Met)
|
|
|
NM_000435.3(NOTCH3):c.2716G>A (p.Ala906Thr)
|
|
|
NM_000435.3(NOTCH3):c.2717C>T (p.Ala906Val)
|
rs754997329
|
|
NM_000435.3(NOTCH3):c.2733C>T (p.Thr911=)
|
rs750239290
|
|
NM_000435.3(NOTCH3):c.2739G>A (p.Pro913=)
|
rs763718957
|
|
NM_000435.3(NOTCH3):c.2741_2742delinsAG (p.Pro914Gln)
|
rs2145423971
|
|
NM_000435.3(NOTCH3):c.2741_2742inv (p.Pro914Leu)
|
|
|
NM_000435.3(NOTCH3):c.2747A>G (p.Tyr916Cys)
|
|
|
NM_000435.3(NOTCH3):c.2749G>A (p.Gly917Arg)
|
rs150338460
|
|
NM_000435.3(NOTCH3):c.2752G>T (p.Gly918Cys)
|
|
|
NM_000435.3(NOTCH3):c.2753G>A (p.Gly918Asp)
|
rs2145423909
|
|
NM_000435.3(NOTCH3):c.2762G>A (p.Cys921Tyr)
|
|
|
NM_000435.3(NOTCH3):c.276C>T (p.Val92=)
|
|
|
NM_000435.3(NOTCH3):c.2773C>G (p.Leu925Val)
|
rs184033385
|
|
NM_000435.3(NOTCH3):c.277T>C (p.Cys93Arg)
|
|
|
NM_000435.3(NOTCH3):c.278G>A (p.Cys93Tyr)
|
|
|
NM_000435.3(NOTCH3):c.2792+108C>T
|
rs79458848
|
|
NM_000435.3(NOTCH3):c.2792+15T>C
|
|
|
NM_000435.3(NOTCH3):c.2793-115C>G
|
rs7257550
|
|
NM_000435.3(NOTCH3):c.2793-12C>T
|
|
|
NM_000435.3(NOTCH3):c.2793-2A>G
|
|
|
NM_000435.3(NOTCH3):c.2793-8C>A
|
rs960266832
|
|
NM_000435.3(NOTCH3):c.2798G>T (p.Cys933Phe)
|
|
|
NM_000435.3(NOTCH3):c.2826C>T (p.Gly942=)
|
rs758320993
|
|
NM_000435.3(NOTCH3):c.2827G>A (p.Val943Met)
|
|
|
NM_000435.3(NOTCH3):c.2827G>T (p.Val943Leu)
|
rs764894150
|
|
NM_000435.3(NOTCH3):c.282G>A (p.Gln94=)
|
|
|
NM_000435.3(NOTCH3):c.2836T>C (p.Phe946Leu)
|
|
|
NM_000435.3(NOTCH3):c.2840G>C (p.Ser947Thr)
|
rs1555728008
|
|
NM_000435.3(NOTCH3):c.2847G>A (p.Leu949=)
|
|
|
NM_000435.3(NOTCH3):c.2856C>A (p.Pro952=)
|
rs968392255
|
|
NM_000435.3(NOTCH3):c.2857G>T (p.Gly953Cys)
|
|
|
NM_000435.3(NOTCH3):c.2873A>T (p.His958Leu)
|
|
|
NM_000435.3(NOTCH3):c.2876G>C (p.Cys959Ser)
|
|
|
NM_000435.3(NOTCH3):c.2879A>T (p.Gln960Leu)
|
|
|
NM_000435.3(NOTCH3):c.2894C>G (p.Pro965Arg)
|
|
|
NM_000435.3(NOTCH3):c.289G>A (p.Val97Met)
|
|
|
NM_000435.3(NOTCH3):c.2905C>T (p.Arg969Trp)
|
|
|
NM_000435.3(NOTCH3):c.2906G>C (p.Arg969Pro)
|
|
|
NM_000435.3(NOTCH3):c.2918A>C (p.His973Pro)
|
|
|
NM_000435.3(NOTCH3):c.2918A>T (p.His973Leu)
|
|
|
NM_000435.3(NOTCH3):c.2920G>T (p.Gly974Trp)
|
rs747234439
|
|
NM_000435.3(NOTCH3):c.2926G>A (p.Val976Ile)
|
rs771899820
|
|
NM_000435.3(NOTCH3):c.2929T>C (p.Cys977Arg)
|
rs2046836342
|
|
NM_000435.3(NOTCH3):c.2935G>A (p.Ala979Thr)
|
|
|
NM_000435.3(NOTCH3):c.2938G>T (p.Ala980Ser)
|
|
|
NM_000435.3(NOTCH3):c.2951T>G (p.Phe984Cys)
|
rs995523352
|
|
NM_000435.3(NOTCH3):c.2953C>T (p.Arg985Cys)
|
rs1188569102
|
|
NM_000435.3(NOTCH3):c.2956T>C (p.Cys986Arg)
|
|
|
NM_000435.3(NOTCH3):c.2956T>G (p.Cys986Gly)
|
rs763321998
|
|
NM_000435.3(NOTCH3):c.2962T>C (p.Cys988Arg)
|
rs2145422681
|
|
NM_000435.3(NOTCH3):c.2968G>C (p.Glu990Gln)
|
rs759991207
|
|
NM_000435.3(NOTCH3):c.2970_2971delinsTT (p.Glu990_Ser991delinsAspCys)
|
rs2145422649
|
|
NM_000435.3(NOTCH3):c.2979G>A (p.Thr993=)
|
|
|
NM_000435.3(NOTCH3):c.2981del (p.Gly994fs)
|
|
|
NM_000435.3(NOTCH3):c.2984C>T (p.Pro995Leu)
|
|
|
NM_000435.3(NOTCH3):c.2984del (p.Pro995fs)
|
|
|
NM_000435.3(NOTCH3):c.2985G>A (p.Pro995=)
|
|
|
NM_000435.3(NOTCH3):c.2989T>G (p.Cys997Gly)
|
rs1555727960
|
|
NM_000435.3(NOTCH3):c.2991C>A (p.Cys997Ter)
|
|
|
NM_000435.3(NOTCH3):c.2995-4C>T
|
rs774326191
|
|
NM_000435.3(NOTCH3):c.2995-7C>T
|
rs767871714
|
|
NM_000435.3(NOTCH3):c.2996C>T (p.Thr999Met)
|
|
|
NM_000435.3(NOTCH3):c.29G>A (p.Arg10His)
|
|
|
NM_000435.3(NOTCH3):c.3009G>C (p.Trp1003Cys)
|
rs1241704923
|
|
NM_000435.3(NOTCH3):c.3009G>T (p.Trp1003Cys)
|
|
|
NM_000435.3(NOTCH3):c.3011G>A (p.Cys1004Tyr)
|
rs1555727944
|
|
NM_000435.3(NOTCH3):c.3016C>T (p.Arg1006Cys)
|
rs1555727942
|
|
NM_000435.3(NOTCH3):c.3026G>A (p.Cys1009Tyr)
|
rs1217205469
|
|
NM_000435.3(NOTCH3):c.3040C>T (p.Arg1014Cys)
|
rs376682593
|
|
NM_000435.3(NOTCH3):c.3041G>A (p.Arg1014His)
|
|
|
NM_000435.3(NOTCH3):c.3043T>C (p.Cys1015Arg)
|
rs1599382214
|
|
NM_000435.3(NOTCH3):c.3044G>A (p.Cys1015Tyr)
|
rs1555727938
|
|
NM_000435.3(NOTCH3):c.3044G>T (p.Cys1015Phe)
|
|
|
NM_000435.3(NOTCH3):c.3045C>G (p.Cys1015Trp)
|
|
|
NM_000435.3(NOTCH3):c.304G>T (p.Ala102Ser)
|
|
|
NM_000435.3(NOTCH3):c.3061dup (p.Tyr1021fs)
|
rs2145421802
|
|
NM_000435.3(NOTCH3):c.3064T>A (p.Cys1022Ser)
|
rs2046833026
|
|
NM_000435.3(NOTCH3):c.3065G>T (p.Cys1022Phe)
|
rs1555727930
|
|
NM_000435.3(NOTCH3):c.307C>G (p.Arg103Gly)
|
|
|
NM_000435.3(NOTCH3):c.3084G>C (p.Trp1028Cys)
|
rs2046832726
|
|
NM_000435.3(NOTCH3):c.3088G>A (p.Gly1030Arg)
|
|
|
NM_000435.3(NOTCH3):c.308G>A (p.Arg103Gln)
|
|
|
NM_000435.3(NOTCH3):c.3091C>T (p.Arg1031Cys)
|
rs1285584068
|
|
NM_000435.3(NOTCH3):c.3107G>A (p.Arg1036Gln)
|
|
|
NM_000435.3(NOTCH3):c.3130G>T (p.Ala1044Ser)
|
rs767672719
|
|
NM_000435.3(NOTCH3):c.313T>C (p.Ser105Pro)
|
|
|
NM_000435.3(NOTCH3):c.3142+7G>A
|
rs1159766861
|
|
NM_000435.3(NOTCH3):c.3143-18C>T
|
|
|
NM_000435.3(NOTCH3):c.3143-7T>C
|
|
|
NM_000435.3(NOTCH3):c.3148C>T (p.Arg1050Trp)
|
|
|
NM_000435.3(NOTCH3):c.315A>C (p.Ser105=)
|
|
|
NM_000435.3(NOTCH3):c.316T>A (p.Cys106Ser)
|
|
|
NM_000435.3(NOTCH3):c.316T>C (p.Cys106Arg)
|
rs1555729589
|
|
NM_000435.3(NOTCH3):c.3172G>T (p.Gly1058Cys)
|
|
|
NM_000435.3(NOTCH3):c.3182G>A (p.Cys1061Tyr)
|
rs1064794216
|
|
NM_000435.3(NOTCH3):c.318C>G (p.Cys106Trp)
|
rs774698706
|
|
NM_000435.3(NOTCH3):c.3193G>A (p.Asp1065Asn)
|
rs920169956
|
|
NM_000435.3(NOTCH3):c.3206A>G (p.Tyr1069Cys)
|
rs1438064001
|
|
NM_000435.3(NOTCH3):c.320G>A (p.Arg107Gln)
|
|
|
NM_000435.3(NOTCH3):c.3211G>A (p.Val1071Met)
|
|
|
NM_000435.3(NOTCH3):c.322T>A (p.Cys108Ser)
|
|
|
NM_000435.3(NOTCH3):c.322T>C (p.Cys108Arg)
|
|
|
NM_000435.3(NOTCH3):c.3231T>G (p.Thr1077=)
|
rs1192845628
|
|
NM_000435.3(NOTCH3):c.323G>A (p.Cys108Tyr)
|
rs1555729584
|
|
NM_000435.3(NOTCH3):c.323G>T (p.Cys108Phe)
|
rs1555729584
|
|
NM_000435.3(NOTCH3):c.3265T>C (p.Leu1089=)
|
|
|
NM_000435.3(NOTCH3):c.3282G>A (p.Gln1094=)
|
|
|
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys)
|
rs775836288
|
|
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr)
|
rs1555727841
|
|
NM_000435.3(NOTCH3):c.3298C>T (p.Arg1100Cys)
|
|
|
NM_000435.3(NOTCH3):c.3318C>T (p.Tyr1106=)
|
|
|
NM_000435.3(NOTCH3):c.3327+16C>A
|
|
|
NM_000435.3(NOTCH3):c.3328-1G>A
|
rs886044600
|
|
NM_000435.3(NOTCH3):c.3328-20C>G
|
|
|
NM_000435.3(NOTCH3):c.3352A>G (p.Asn1118Asp)
|
|
|
NM_000435.3(NOTCH3):c.3353A>T (p.Asn1118Ile)
|
|
|
NM_000435.3(NOTCH3):c.3363C>T (p.Asp1121=)
|
|
|
NM_000435.3(NOTCH3):c.3366C>T (p.Asp1122=)
|
|
|
NM_000435.3(NOTCH3):c.3375G>C (p.Glu1125Asp)
|
|
|
NM_000435.3(NOTCH3):c.340+14_340+15del
|
|
|
NM_000435.3(NOTCH3):c.3404G>C (p.Gly1135Ala)
|
|
|
NM_000435.3(NOTCH3):c.3409T>C (p.Cys1137Arg)
|
rs2145418962
|
|
NM_000435.3(NOTCH3):c.341-12T>C
|
|
|
NM_000435.3(NOTCH3):c.341-16G>T
|
|
|
NM_000435.3(NOTCH3):c.341-24C>G
|
|
|
NM_000435.3(NOTCH3):c.341-2A>G
|
rs2046935672
|
|
NM_000435.3(NOTCH3):c.341-2A>T
|
|
|
NM_000435.3(NOTCH3):c.341-32_341-21del
|
|
|
NM_000435.3(NOTCH3):c.3420C>T (p.Leu1140=)
|
|
|
NM_000435.3(NOTCH3):c.3425C>T (p.Ala1142Val)
|
|
|
NM_000435.3(NOTCH3):c.3455C>T (p.Thr1152Met)
|
|
|
NM_000435.3(NOTCH3):c.3456G>T (p.Thr1152=)
|
|
|
NM_000435.3(NOTCH3):c.3471C>T (p.Cys1157=)
|
|
|
NM_000435.3(NOTCH3):c.3472G>A (p.Glu1158Lys)
|
|
|
NM_000435.3(NOTCH3):c.3488A>T (p.Asp1163Val)
|
rs1568354937
|
|
NM_000435.3(NOTCH3):c.3495C>T (p.Gly1165=)
|
|
|
NM_000435.3(NOTCH3):c.349T>C (p.Cys117Arg)
|
rs1555729554
|
|
NM_000435.3(NOTCH3):c.349T>G (p.Cys117Gly)
|
rs1555729554
|
|
NM_000435.3(NOTCH3):c.350G>A (p.Cys117Tyr)
|
rs773539041
|
|
NM_000435.3(NOTCH3):c.350G>T (p.Cys117Phe)
|
rs773539041
|
|
NM_000435.3(NOTCH3):c.351C>G (p.Cys117Trp)
|
rs200881673
|
|
NM_000435.3(NOTCH3):c.3524G>C (p.Arg1175Pro)
|
rs752282553
|
|
NM_000435.3(NOTCH3):c.353C>G (p.Ser118Cys)
|
rs1469620436
|
|
NM_000435.3(NOTCH3):c.353C>T (p.Ser118Phe)
|
|
|
NM_000435.3(NOTCH3):c.3542C>T (p.Thr1181Ile)
|
rs1216306549
|
|
NM_000435.3(NOTCH3):c.3548T>C (p.Val1183Ala)
|
|
|
NM_000435.3(NOTCH3):c.3568C>T (p.Arg1190Cys)
|
|
|
NM_000435.3(NOTCH3):c.3571T>C (p.Cys1191Arg)
|
|
|
NM_000435.3(NOTCH3):c.3589T>C (p.Tyr1197His)
|
|
|
NM_000435.3(NOTCH3):c.35_59del (p.Arg12fs)
|
|
|
NM_000435.3(NOTCH3):c.3602G>A (p.Arg1201His)
|
|
|
NM_000435.3(NOTCH3):c.3628C>G (p.Arg1210Gly)
|
|
|
NM_000435.3(NOTCH3):c.3628C>T (p.Arg1210Cys)
|
|
|
NM_000435.3(NOTCH3):c.363T>A (p.Asp121Glu)
|
rs2046935214
|
|
NM_000435.3(NOTCH3):c.3645C>G (p.His1215Gln)
|
|
|
NM_000435.3(NOTCH3):c.366C>G (p.Pro122=)
|
|
|
NM_000435.3(NOTCH3):c.368G>T (p.Cys123Phe)
|
rs2046935167
|
|
NM_000435.3(NOTCH3):c.3696C>G (p.Cys1232Trp)
|
|
|
NM_000435.3(NOTCH3):c.369C>T (p.Cys123=)
|
rs1599395213
|
|
NM_000435.3(NOTCH3):c.36T>C (p.Arg12=)
|
rs2145457741
|
|
NM_000435.3(NOTCH3):c.370C>G (p.Leu124Val)
|
rs2145442481
|
|
NM_000435.3(NOTCH3):c.3718+5G>A
|
|
|
NM_000435.3(NOTCH3):c.3719-4T>C
|
|
|
NM_000435.3(NOTCH3):c.3719-6G>A
|
|
|
NM_000435.3(NOTCH3):c.3719-8T>C
|
|
|
NM_000435.3(NOTCH3):c.3719G>T (p.Gly1240Val)
|
|
|
NM_000435.3(NOTCH3):c.3727T>C (p.Cys1243Arg)
|
|
|
NM_000435.3(NOTCH3):c.3747C>T (p.Pro1249=)
|
|
|
NM_000435.3(NOTCH3):c.3757_3758delinsAG (p.Gln1253Arg)
|
rs2046814637
|
|
NM_000435.3(NOTCH3):c.376A>T (p.Ser126Cys)
|
rs1555729534
|
|
NM_000435.3(NOTCH3):c.3782G>A (p.Cys1261Tyr)
|
|
|
NM_000435.3(NOTCH3):c.3783C>G (p.Cys1261Trp)
|
|
|
NM_000435.3(NOTCH3):c.37C>T (p.Arg13Cys)
|
|
|
NM_000435.3(NOTCH3):c.3802G>A (p.Gly1268Arg)
|
|
|
NM_000435.3(NOTCH3):c.3829_3835del (p.Cys1277fs)
|
|
|
NM_000435.3(NOTCH3):c.3837+10G>T
|
rs1555727565
|
|
NM_000435.3(NOTCH3):c.3837+3A>G
|
|
|
NM_000435.3(NOTCH3):c.3838-12C>T
|
|
|
NM_000435.3(NOTCH3):c.3838C>A (p.Pro1280Thr)
|
rs958354298
|
|
NM_000435.3(NOTCH3):c.3838C>T (p.Pro1280Ser)
|
|
|
NM_000435.3(NOTCH3):c.383G>T (p.Cys128Phe)
|
rs1568362039
|
|
NM_000435.3(NOTCH3):c.3840G>T (p.Pro1280=)
|
rs1197487478
|
|
NM_000435.3(NOTCH3):c.3854G>T (p.Arg1285Leu)
|
|
|
NM_000435.3(NOTCH3):c.3859G>A (p.Glu1287Lys)
|
|
|
NM_000435.3(NOTCH3):c.3863G>C (p.Arg1288Pro)
|
|
|
NM_000435.3(NOTCH3):c.3865G>A (p.Val1289Met)
|
|
|
NM_000435.3(NOTCH3):c.3865del (p.Val1289fs)
|
rs2046807565
|
|
NM_000435.3(NOTCH3):c.3871C>G (p.Arg1291Gly)
|
rs2046807463
|
|
NM_000435.3(NOTCH3):c.3878G>T (p.Cys1293Phe)
|
rs2046807371
|
|
NM_000435.3(NOTCH3):c.3893G>T (p.Cys1298Phe)
|
rs2046807248
|
|
NM_000435.3(NOTCH3):c.3901G>A (p.Gly1301Ser)
|
|
|
NM_000435.3(NOTCH3):c.3913C>T (p.Gln1305Ter)
|
|
|
NM_000435.3(NOTCH3):c.391G>A (p.Gly131Ser)
|
rs767150916
|
|
NM_000435.3(NOTCH3):c.3925C>T (p.Arg1309Cys)
|
rs1402176902
|
|
NM_000435.3(NOTCH3):c.3926G>C (p.Arg1309Pro)
|
|
|
NM_000435.3(NOTCH3):c.3932C>T (p.Pro1311Leu)
|
|
|
NM_000435.3(NOTCH3):c.3940G>A (p.Ala1314Thr)
|
|
|
NM_000435.3(NOTCH3):c.3944G>A (p.Cys1315Tyr)
|
rs1432396805
|
|
NM_000435.3(NOTCH3):c.3949C>T (p.Pro1317Ser)
|
rs1481252730
|
|
NM_000435.3(NOTCH3):c.3950C>G (p.Pro1317Arg)
|
|
|
NM_000435.3(NOTCH3):c.3970T>A (p.Cys1324Ser)
|
|
|
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys)
|
rs137852642
|
|
NM_000435.3(NOTCH3):c.3981C>T (p.Phe1327=)
|
|
|
NM_000435.3(NOTCH3):c.3982C>A (p.Pro1328Thr)
|
rs2145415421
|
|
NM_000435.3(NOTCH3):c.3989C>T (p.Ser1330Leu)
|
|
|
NM_000435.3(NOTCH3):c.3998G>A (p.Gly1333Glu)
|
|
|
NM_000435.3(NOTCH3):c.4000G>T (p.Ala1334Ser)
|
|
|
NM_000435.3(NOTCH3):c.4004_4006dup (p.Ser1335dup)
|
rs1555727412
|
|
NM_000435.3(NOTCH3):c.4018G>A (p.Ala1340Thr)
|
|
|
NM_000435.3(NOTCH3):c.4025C>T (p.Ala1342Val)
|
|
|
NM_000435.3(NOTCH3):c.4029_4030del (p.Cys1344fs)
|
|
|
NM_000435.3(NOTCH3):c.4029del (p.Cys1344fs)
|
|
|
NM_000435.3(NOTCH3):c.402C>T (p.Cys134=)
|
|
|
NM_000435.3(NOTCH3):c.4038C>T (p.His1346=)
|
rs1555727404
|
|
NM_000435.3(NOTCH3):c.4039G>C (p.Gly1347Arg)
|
rs1344432803
|
|
NM_000435.3(NOTCH3):c.407T>G (p.Val136Gly)
|
|
|
NM_000435.3(NOTCH3):c.4111C>G (p.Arg1371Gly)
|
rs2145415056
|
|
NM_000435.3(NOTCH3):c.4112G>A (p.Arg1371His)
|
|
|
NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys)
|
rs1174625611
|
|
NM_000435.3(NOTCH3):c.427C>T (p.Leu143Phe)
|
rs772201554
|
|
NM_000435.3(NOTCH3):c.429C>T (p.Leu143=)
|
|
|
NM_000435.3(NOTCH3):c.430T>C (p.Cys144Arg)
|
rs2046934287
|
|
NM_000435.3(NOTCH3):c.431G>A (p.Cys144Tyr)
|
rs1568361985
|
|
NM_000435.3(NOTCH3):c.431G>T (p.Cys144Phe)
|
|
|
NM_000435.3(NOTCH3):c.4328_4340dup (p.Ser1447fs)
|
|
|
NM_000435.3(NOTCH3):c.4334C>T (p.Ala1445Val)
|
|
|
NM_000435.3(NOTCH3):c.4344G>A (p.Ser1448=)
|
|
|
NM_000435.3(NOTCH3):c.4347_4350dup (p.Cys1451fs)
|
rs2145414374
|
|
NM_000435.3(NOTCH3):c.436T>C (p.Cys146Arg)
|
rs1555729510
|
|
NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr)
|
rs1236699193
|
|
NM_000435.3(NOTCH3):c.437G>T (p.Cys146Phe)
|
rs1236699193
|
|
NM_000435.3(NOTCH3):c.4403+20C>T
|
|
|
NM_000435.3(NOTCH3):c.4404-172del
|
rs71168591
|
|
NM_000435.3(NOTCH3):c.4404-172dup
|
rs71168591
|
|
NM_000435.3(NOTCH3):c.4404-173_4404-172del
|
rs71168591
|
|
NM_000435.3(NOTCH3):c.4404-175_4404-172del
|
rs71168591
|
|
NM_000435.3(NOTCH3):c.4404-176_4404-172del
|
rs71168591
|
|
NM_000435.3(NOTCH3):c.4404-61A>G
|
rs10422818
|
|
NM_000435.3(NOTCH3):c.4404-6C>G
|
rs1157189739
|
|
NM_000435.3(NOTCH3):c.4404-8C>T
|
|
|
NM_000435.3(NOTCH3):c.4417_4428dup (p.Lys1473_Ala1476dup)
|
rs1599374922
|
|
NM_000435.3(NOTCH3):c.4418_4422del (p.Lys1473fs)
|
rs2046769538
|
|
NM_000435.3(NOTCH3):c.4419G>C (p.Lys1473Asn)
|
|
|
NM_000435.3(NOTCH3):c.4431C>A (p.Asp1477Glu)
|
|
|
NM_000435.3(NOTCH3):c.4440C>T (p.Ala1480=)
|
|
|
NM_000435.3(NOTCH3):c.4448G>A (p.Arg1483His)
|
|
|
NM_000435.3(NOTCH3):c.4475A>C (p.Glu1492Ala)
|
rs2046768843
|
|
NM_000435.3(NOTCH3):c.4476_4487delinsTGGGC (p.Glu1492fs)
|
|
|
NM_000435.3(NOTCH3):c.4483_4503dup (p.Ala1501_Ser1502insTrpAspGlyLeuAspCysAla)
|
|
|
NM_000435.3(NOTCH3):c.449A>G (p.Tyr150Cys)
|
|
|
NM_000435.3(NOTCH3):c.4521G>A (p.Leu1507=)
|
|
|
NM_000435.3(NOTCH3):c.4528C>T (p.Arg1510Cys)
|
rs763870059
|
|
NM_000435.3(NOTCH3):c.4534G>A (p.Val1512Met)
|
|
|
NM_000435.3(NOTCH3):c.4534G>C (p.Val1512Leu)
|
|
|
NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys)
|
rs797045014
|
|
NM_000435.3(NOTCH3):c.458G>A (p.Arg153His)
|
|
|
NM_000435.3(NOTCH3):c.4615C>T (p.Leu1539=)
|
rs144708461
|
|
NM_000435.3(NOTCH3):c.4627C>A (p.Leu1543Met)
|
rs111838442
|
|
NM_000435.3(NOTCH3):c.4637G>A (p.Arg1546His)
|
|
|
NM_000435.3(NOTCH3):c.4648C>G (p.His1550Asp)
|
|
|
NM_000435.3(NOTCH3):c.4650C>T (p.His1550=)
|
|
|
NM_000435.3(NOTCH3):c.4655A>T (p.Gln1552Leu)
|
|
|
NM_000435.3(NOTCH3):c.4661T>C (p.Met1554Thr)
|
|
|
NM_000435.3(NOTCH3):c.4676A>G (p.His1559Arg)
|
rs2145408576
|
|
NM_000435.3(NOTCH3):c.4679G>A (p.Arg1560Gln)
|
|
|
NM_000435.3(NOTCH3):c.4708C>T (p.Arg1570Cys)
|
|
|
NM_000435.3(NOTCH3):c.4722C>A (p.Ala1574=)
|
|
|
NM_000435.3(NOTCH3):c.4735G>T (p.Gly1579Cys)
|
|
|
NM_000435.3(NOTCH3):c.4736+290C>T
|
rs140109009
|
|
NM_000435.3(NOTCH3):c.4736+9dup
|
rs369417981
|
|
NM_000435.3(NOTCH3):c.4737-7C>G
|
|
|
NM_000435.3(NOTCH3):c.4762A>C (p.Asn1588His)
|
rs2046727426
|
|
NM_000435.3(NOTCH3):c.4798T>A (p.Cys1600Ser)
|
rs2046726978
|
|
NM_000435.3(NOTCH3):c.4798T>C (p.Cys1600Arg)
|
|
|
NM_000435.3(NOTCH3):c.479A>G (p.Asp160Gly)
|
|
|
NM_000435.3(NOTCH3):c.4806C>A (p.Pro1602=)
|
rs578082632
|
|
NM_000435.3(NOTCH3):c.4826A>T (p.Asp1609Val)
|
rs2145401603
|
|
NM_000435.3(NOTCH3):c.484T>A (p.Cys162Ser)
|
|
|
NM_000435.3(NOTCH3):c.484T>C (p.Cys162Arg)
|
rs2145441998
|
|
NM_000435.3(NOTCH3):c.484T>G (p.Cys162Gly)
|
|
|
NM_000435.3(NOTCH3):c.4855C>T (p.Arg1619Cys)
|
|
|
NM_000435.3(NOTCH3):c.485G>T (p.Cys162Phe)
|
rs2145441996
|
|
NM_000435.3(NOTCH3):c.4860G>A (p.Leu1620=)
|
|
|
NM_000435.3(NOTCH3):c.4862_4863delinsTG (p.Asp1621Val)
|
|
|
NM_000435.3(NOTCH3):c.4864T>C (p.Phe1622Leu)
|
|
|
NM_000435.3(NOTCH3):c.4868C>G (p.Pro1623Arg)
|
|
|
NM_000435.3(NOTCH3):c.4869G>A (p.Pro1623=)
|
rs148574670
|
|
NM_000435.3(NOTCH3):c.4869G>C (p.Pro1623=)
|
rs148574670
|
|
NM_000435.3(NOTCH3):c.4880G>T (p.Arg1627Leu)
|
rs1407627346
|
|
NM_000435.3(NOTCH3):c.4884C>T (p.Asp1628=)
|
|
|
NM_000435.3(NOTCH3):c.4885G>T (p.Val1629Leu)
|
|
|
NM_000435.3(NOTCH3):c.4892-4T>G
|
|
|
NM_000435.3(NOTCH3):c.4892-7C>T
|
|
|
NM_000435.3(NOTCH3):c.4899G>A (p.Pro1633=)
|
rs200797732
|
|
NM_000435.3(NOTCH3):c.4899G>C (p.Pro1633=)
|
|
|
NM_000435.3(NOTCH3):c.4939C>G (p.Leu1647Val)
|
|
|
NM_000435.3(NOTCH3):c.4944G>A (p.Val1648=)
|
rs1387616524
|
|
NM_000435.3(NOTCH3):c.4944_4945dup (p.Ala1649fs)
|
rs2046723155
|
|
NM_000435.3(NOTCH3):c.4978C>T (p.Leu1660=)
|
|
|
NM_000435.3(NOTCH3):c.5000G>A (p.Arg1667His)
|
|
|
NM_000435.3(NOTCH3):c.5005C>G (p.Arg1669Gly)
|
|
|
NM_000435.3(NOTCH3):c.5011C>G (p.His1671Asp)
|
|
|
NM_000435.3(NOTCH3):c.5014A>T (p.Ser1672Cys)
|
|
|
NM_000435.3(NOTCH3):c.5015G>A (p.Ser1672Asn)
|
rs2046722168
|
|
NM_000435.3(NOTCH3):c.501C>T (p.Pro167=)
|
|
|
NM_000435.3(NOTCH3):c.502T>A (p.Cys168Ser)
|
|
|
NM_000435.3(NOTCH3):c.5030C>T (p.Pro1677Leu)
|
|
|
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys)
|
rs28933696
|
|
NM_000435.3(NOTCH3):c.506G>A (p.Arg169His)
|
|
|
NM_000435.3(NOTCH3):c.506G>T (p.Arg169Leu)
|
|
|
NM_000435.3(NOTCH3):c.5082G>A (p.Arg1694=)
|
rs2145399915
|
|
NM_000435.3(NOTCH3):c.5089G>T (p.Val1697Leu)
|
|
|
NM_000435.3(NOTCH3):c.5103G>A (p.Ala1701=)
|
rs771045579
|
|
NM_000435.3(NOTCH3):c.5114+15C>G
|
|
|
NM_000435.3(NOTCH3):c.5115-6C>T
|
|
|
NM_000435.3(NOTCH3):c.5119A>G (p.Met1707Val)
|
|
|
NM_000435.3(NOTCH3):c.512_605delinsA (p.Gly171_Ala202delinsGlu)
|
rs2046931882
|
|
NM_000435.3(NOTCH3):c.5136C>G (p.Ser1712Arg)
|
rs1360797131
|
|
NM_000435.3(NOTCH3):c.5149G>A (p.Val1717Met)
|
|
|
NM_000435.3(NOTCH3):c.5151G>A (p.Val1717=)
|
|
|
NM_000435.3(NOTCH3):c.5180C>G (p.Pro1727Arg)
|
rs989373826
|
|
NM_000435.3(NOTCH3):c.5199+11C>G
|
rs368144892
|
|
NM_000435.3(NOTCH3):c.5199+13dup
|
|
|
NM_000435.3(NOTCH3):c.5199+221C>T
|
rs1859385
|
|
NM_000435.3(NOTCH3):c.5199+7C>T
|
rs2145399219
|
|
NM_000435.3(NOTCH3):c.5200-155_5200-152dup
|
rs56343808
|
|
NM_000435.3(NOTCH3):c.5200-297C>A
|
rs2074623
|
|
NM_000435.3(NOTCH3):c.5200-297C>T
|
rs2074623
|
|
NM_000435.3(NOTCH3):c.5200-6C>T
|
|
|
NM_000435.3(NOTCH3):c.5203G>C (p.Glu1735Gln)
|
|
|
NM_000435.3(NOTCH3):c.520T>A (p.Cys174Ser)
|
rs1599394806
|
|
NM_000435.3(NOTCH3):c.520T>C (p.Cys174Arg)
|
rs1599394806
|
|
NM_000435.3(NOTCH3):c.521G>A (p.Cys174Tyr)
|
rs1555729486
|
|
NM_000435.3(NOTCH3):c.521G>T (p.Cys174Phe)
|
rs1555729486
|
|
NM_000435.3(NOTCH3):c.5229G>A (p.Glu1743=)
|
|
|
NM_000435.3(NOTCH3):c.522C>G (p.Cys174Trp)
|
|
|
NM_000435.3(NOTCH3):c.5242C>T (p.Arg1748Cys)
|
|
|
NM_000435.3(NOTCH3):c.5243G>A (p.Arg1748His)
|
|
|
NM_000435.3(NOTCH3):c.5256A>G (p.Gln1752=)
|
|
|
NM_000435.3(NOTCH3):c.5258A>G (p.His1753Arg)
|
rs1599366686
|
|
NM_000435.3(NOTCH3):c.5285T>C (p.Val1762Ala)
|
rs750747488
|
|
NM_000435.3(NOTCH3):c.5297T>C (p.Met1766Thr)
|
rs1420105350
|
|
NM_000435.3(NOTCH3):c.530C>T (p.Thr177Ile)
|
rs919800459
|
|
NM_000435.3(NOTCH3):c.531_532delinsTT (p.Pro178Ser)
|
rs2145441756
|
|
NM_000435.3(NOTCH3):c.5320G>A (p.Asp1774Asn)
|
|
|
NM_000435.3(NOTCH3):c.5322C>T (p.Asp1774=)
|
|
|
NM_000435.3(NOTCH3):c.5328T>C (p.Asp1776=)
|
rs2145394590
|
|
NM_000435.3(NOTCH3):c.5353C>T (p.Arg1785Cys)
|
|
|
NM_000435.3(NOTCH3):c.5354G>C (p.Arg1785Pro)
|
|
|
NM_000435.3(NOTCH3):c.5362+20C>T
|
rs2145394446
|
|
NM_000435.3(NOTCH3):c.5362+290T>G
|
rs34740703
|
|
NM_000435.3(NOTCH3):c.5363-108T>C
|
rs45504393
|
|
NM_000435.3(NOTCH3):c.5363-13C>G
|
|
|
NM_000435.3(NOTCH3):c.5366G>A (p.Gly1789Asp)
|
rs1085307509
|
|
NM_000435.3(NOTCH3):c.5375C>T (p.Pro1792Leu)
|
rs1250718112
|
|
NM_000435.3(NOTCH3):c.5399G>C (p.Gly1800Ala)
|
|
|
NM_000435.3(NOTCH3):c.5400G>C (p.Gly1800=)
|
|
|
NM_000435.3(NOTCH3):c.5404dup (p.Ala1802fs)
|
|
|
NM_000435.3(NOTCH3):c.547T>C (p.Cys183Arg)
|
rs2145441707
|
|
NM_000435.3(NOTCH3):c.548G>A (p.Cys183Tyr)
|
rs1568361851
|
|
NM_000435.3(NOTCH3):c.548G>T (p.Cys183Phe)
|
rs1568361851
|
|
NM_000435.3(NOTCH3):c.5505T>C (p.Thr1835=)
|
|
|
NM_000435.3(NOTCH3):c.5509C>T (p.Arg1837Cys)
|
|
|
NM_000435.3(NOTCH3):c.550C>T (p.Gln184Ter)
|
|
|
NM_000435.3(NOTCH3):c.5512A>T (p.Thr1838Ser)
|
|
|
NM_000435.3(NOTCH3):c.553T>G (p.Cys185Gly)
|
rs1568361844
|
|
NM_000435.3(NOTCH3):c.5543G>A (p.Arg1848His)
|
|
|
NM_000435.3(NOTCH3):c.554G>A (p.Cys185Tyr)
|
rs1555729477
|
|
NM_000435.3(NOTCH3):c.554G>T (p.Cys185Phe)
|
rs1555729477
|
|
NM_000435.3(NOTCH3):c.5552G>A (p.Arg1851His)
|
|
|
NM_000435.3(NOTCH3):c.5578G>A (p.Asp1860Asn)
|
|
|
NM_000435.3(NOTCH3):c.557C>T (p.Pro186Leu)
|
|
|
NM_000435.3(NOTCH3):c.5601C>T (p.Ala1867=)
|
|
|
NM_000435.3(NOTCH3):c.5603A>G (p.Gln1868Arg)
|
rs2145391979
|
|
NM_000435.3(NOTCH3):c.5604G>A (p.Gln1868=)
|
|
|
NM_000435.3(NOTCH3):c.5626C>T (p.Leu1876=)
|
|
|
NM_000435.3(NOTCH3):c.5631C>A (p.His1877Gln)
|
|
|
NM_000435.3(NOTCH3):c.5647G>T (p.Asp1883Tyr)
|
rs1568347508
|
|
NM_000435.3(NOTCH3):c.5668-11C>T
|
rs199850662
|
|
NM_000435.3(NOTCH3):c.5668-9C>G
|
rs375464998
|
|
NM_000435.3(NOTCH3):c.5668-9C>T
|
rs375464998
|
|
NM_000435.3(NOTCH3):c.566A>G (p.Tyr189Cys)
|
rs2145441610
|
|
NM_000435.3(NOTCH3):c.5684G>A (p.Arg1895His)
|
rs369768722
|
|
NM_000435.3(NOTCH3):c.5694C>T (p.Asp1898=)
|
rs753245814
|
|
NM_000435.3(NOTCH3):c.5704C>T (p.Arg1902Cys)
|
|
|
NM_000435.3(NOTCH3):c.5723C>T (p.Thr1908Met)
|
|
|
NM_000435.3(NOTCH3):c.5733C>A (p.Ile1911=)
|
|
|
NM_000435.3(NOTCH3):c.5734C>G (p.Leu1912Val)
|
|
|
NM_000435.3(NOTCH3):c.5738C>T (p.Ala1913Val)
|
|
|
NM_000435.3(NOTCH3):c.5746C>T (p.Leu1916=)
|
|
|
NM_000435.3(NOTCH3):c.5750C>T (p.Ala1917Val)
|
|
|
NM_000435.3(NOTCH3):c.5778C>T (p.Ile1926=)
|
|
|
NM_000435.3(NOTCH3):c.5780C>A (p.Ala1927Asp)
|
|
|
NM_000435.3(NOTCH3):c.5790T>C (p.Ala1930=)
|
rs1425060067
|
|
NM_000435.3(NOTCH3):c.5795_5796delinsAT (p.Val1932Asp)
|
|
|
NM_000435.3(NOTCH3):c.5798A>G (p.Asn1933Ser)
|
|
|
NM_000435.3(NOTCH3):c.580T>A (p.Cys194Ser)
|
rs1568361818
|
|
NM_000435.3(NOTCH3):c.580T>C (p.Cys194Arg)
|
rs1568361818
|
|
NM_000435.3(NOTCH3):c.5816-211_5816-204del
|
rs139966230
|
|
NM_000435.3(NOTCH3):c.5816-232_5816-223del
|
rs1411423626
|
|
NM_000435.3(NOTCH3):c.5816-232_5816-229del
|
rs55790175
|
|
NM_000435.3(NOTCH3):c.5816-6C>T
|
|
|
NM_000435.3(NOTCH3):c.5817G>A (p.Gly1939=)
|
|
|
NM_000435.3(NOTCH3):c.581G>A (p.Cys194Tyr)
|
rs2145441541
|
|
NM_000435.3(NOTCH3):c.581G>T (p.Cys194Phe)
|
rs2145441541
|
|
NM_000435.3(NOTCH3):c.583G>A (p.Glu195Lys)
|
rs1599394696
|
|
NM_000435.3(NOTCH3):c.5898C>T (p.Asp1966=)
|
rs1599361324
|
|
NM_000435.3(NOTCH3):c.589C>T (p.Pro197Ser)
|
|
|
NM_000435.3(NOTCH3):c.5901G>A (p.Met1967Ile)
|
rs373866355
|
|
NM_000435.3(NOTCH3):c.5902C>T (p.Gln1968Ter)
|
|
|
NM_000435.3(NOTCH3):c.5913+229G>A
|
rs757471
|
|
NM_000435.3(NOTCH3):c.5913+45T>C
|
rs4809028
|
|
NM_000435.3(NOTCH3):c.5914-10G>C
|
|
|
NM_000435.3(NOTCH3):c.5914-269del
|
rs71168583
|
|
NM_000435.3(NOTCH3):c.5914-287_5914-285dup
|
rs71168583
|
|
NM_000435.3(NOTCH3):c.5914-287_5914-286dup
|
rs71168583
|
|
NM_000435.3(NOTCH3):c.5914-3C>T
|
|
|
NM_000435.3(NOTCH3):c.5914-4C>G
|
|
|
NM_000435.3(NOTCH3):c.5914-9G>C
|
|
|
NM_000435.3(NOTCH3):c.5914G>A (p.Glu1972Lys)
|
rs2145384096
|
|
NM_000435.3(NOTCH3):c.5926dup (p.Leu1976fs)
|
rs1555725170
|
|
NM_000435.3(NOTCH3):c.592G>A (p.Ala198Thr)
|
|
|
NM_000435.3(NOTCH3):c.592_593delinsAA (p.Ala198Lys)
|
|
|
NM_000435.3(NOTCH3):c.593C>T (p.Ala198Val)
|
rs140914494
|
|
NM_000435.3(NOTCH3):c.5942G>A (p.Arg1981His)
|
|
|
NM_000435.3(NOTCH3):c.5943C>T (p.Arg1981=)
|
|
|
NM_000435.3(NOTCH3):c.5990A>G (p.Asn1997Ser)
|
|
|
NM_000435.3(NOTCH3):c.5993G>A (p.Arg1998His)
|
rs2046644859
|
|
NM_000435.3(NOTCH3):c.5994T>G (p.Arg1998=)
|
rs1599360366
|
|
NM_000435.3(NOTCH3):c.6003C>T (p.Thr2001=)
|
|
|
NM_000435.3(NOTCH3):c.6016A>T (p.Arg2006Trp)
|
rs375674115
|
|
NM_000435.3(NOTCH3):c.6026G>A (p.Arg2009Gln)
|
|
|
NM_000435.3(NOTCH3):c.602G>A (p.Cys201Tyr)
|
rs1555729468
|
|
NM_000435.3(NOTCH3):c.602G>C (p.Cys201Ser)
|
rs1555729468
|
|
NM_000435.3(NOTCH3):c.602G>T (p.Cys201Phe)
|
rs1555729468
|
|
NM_000435.3(NOTCH3):c.6030C>T (p.Asp2010=)
|
rs767028544
|
|
NM_000435.3(NOTCH3):c.6035C>G (p.Ala2012Gly)
|
|
|
NM_000435.3(NOTCH3):c.6043A>G (p.Arg2015Gly)
|
rs2046644200
|
|
NM_000435.3(NOTCH3):c.6054G>A (p.Gln2018=)
|
|
|
NM_000435.3(NOTCH3):c.605_606inv (p.Ala202Val)
|
|
|
NM_000435.3(NOTCH3):c.6065G>A (p.Arg2022His)
|
|
|
NM_000435.3(NOTCH3):c.6090C>G (p.Pro2030=)
|
|
|
NM_000435.3(NOTCH3):c.6096C>T (p.Ser2032=)
|
rs755227083
|
|
NM_000435.3(NOTCH3):c.6097C>A (p.Pro2033Thr)
|
rs375213868
|
|
NM_000435.3(NOTCH3):c.6097C>G (p.Pro2033Ala)
|
rs375213868
|
|
NM_000435.3(NOTCH3):c.6097C>T (p.Pro2033Ser)
|
|
|
NM_000435.3(NOTCH3):c.6102C>G (p.Pro2034=)
|
rs114887570
|
|
NM_000435.3(NOTCH3):c.6102dup (p.Gly2035fs)
|
|
|
NM_000435.3(NOTCH3):c.6129C>T (p.Leu2043=)
|
rs943996920
|
|
NM_000435.3(NOTCH3):c.6144C>G (p.Ala2048=)
|
|
|
NM_000435.3(NOTCH3):c.6169C>T (p.Gln2057Ter)
|
rs2145382884
|
|
NM_000435.3(NOTCH3):c.6175G>A (p.Gly2059Arg)
|
|
|
NM_000435.3(NOTCH3):c.617G>A (p.Cys206Tyr)
|
|
|
NM_000435.3(NOTCH3):c.6187A>T (p.Ser2063Cys)
|
|
|
NM_000435.3(NOTCH3):c.6194G>A (p.Arg2065Lys)
|
|
|
NM_000435.3(NOTCH3):c.61C>T (p.Pro21Ser)
|
|
|
NM_000435.3(NOTCH3):c.6201C>G (p.Pro2067=)
|
|
|
NM_000435.3(NOTCH3):c.6201C>T (p.Pro2067=)
|
|
|
NM_000435.3(NOTCH3):c.6201dup (p.Gly2068fs)
|
|
|
NM_000435.3(NOTCH3):c.6219G>A (p.Gly2073=)
|
|
|
NM_000435.3(NOTCH3):c.6221C>A (p.Pro2074Gln)
|
|
|
NM_000435.3(NOTCH3):c.6227G>T (p.Gly2076Val)
|
|
|
NM_000435.3(NOTCH3):c.6233G>A (p.Arg2078Gln)
|
|
|
NM_000435.3(NOTCH3):c.6241G>A (p.Gly2081Ser)
|
|
|
NM_000435.3(NOTCH3):c.6242G>A (p.Gly2081Asp)
|
|
|
NM_000435.3(NOTCH3):c.6248A>G (p.Lys2083Arg)
|
|
|
NM_000435.3(NOTCH3):c.6260C>G (p.Ala2087Gly)
|
rs2145382342
|
|
NM_000435.3(NOTCH3):c.6264C>T (p.Cys2088=)
|
|
|
NM_000435.3(NOTCH3):c.6267G>C (p.Pro2089=)
|
rs577303432
|
|
NM_000435.3(NOTCH3):c.6269del (p.Gly2090fs)
|
rs1011713833
|
|
NM_000435.3(NOTCH3):c.6276G>A (p.Leu2092=)
|
|
|
NM_000435.3(NOTCH3):c.6287C>T (p.Ser2096Leu)
|
|
|
NM_000435.3(NOTCH3):c.6288G>A (p.Ser2096=)
|
|
|
NM_000435.3(NOTCH3):c.6288G>T (p.Ser2096=)
|
rs780963644
|
|
NM_000435.3(NOTCH3):c.6294G>A (p.Thr2098=)
|
|
|
NM_000435.3(NOTCH3):c.6294G>T (p.Thr2098=)
|
rs558864862
|
|
NM_000435.3(NOTCH3):c.6299C>A (p.Ser2100Ter)
|
rs2145382111
|
|
NM_000435.3(NOTCH3):c.6312G>A (p.Ser2104=)
|
|
|
NM_000435.3(NOTCH3):c.6323C>T (p.Pro2108Leu)
|
|
|
NM_000435.3(NOTCH3):c.634T>A (p.Cys212Ser)
|
rs1555729455
|
|
NM_000435.3(NOTCH3):c.634T>G (p.Cys212Gly)
|
|
|
NM_000435.3(NOTCH3):c.6351C>T (p.Ser2117=)
|
rs1599359717
|
|
NM_000435.3(NOTCH3):c.6375G>A (p.Gly2125=)
|
|
|
NM_000435.3(NOTCH3):c.6378C>T (p.Pro2126=)
|
|
|
NM_000435.3(NOTCH3):c.6379T>A (p.Tyr2127Asn)
|
|
|
NM_000435.3(NOTCH3):c.63G>A (p.Pro21=)
|
rs2047007301
|
|
NM_000435.3(NOTCH3):c.6409C>G (p.Leu2137Val)
|
rs2046639059
|
|
NM_000435.3(NOTCH3):c.6443T>G (p.Leu2148Arg)
|
rs2145381386
|
|
NM_000435.3(NOTCH3):c.6446G>A (p.Gly2149Glu)
|
|
|
NM_000435.3(NOTCH3):c.6448C>T (p.Arg2150Cys)
|
|
|
NM_000435.3(NOTCH3):c.6449G>A (p.Arg2150His)
|
|
|
NM_000435.3(NOTCH3):c.6454C>G (p.Pro2152Ala)
|
rs2145381350
|
|
NM_000435.3(NOTCH3):c.6463G>C (p.Gly2155Arg)
|
|
|
NM_000435.3(NOTCH3):c.6464G>A (p.Gly2155Glu)
|
|
|
NM_000435.3(NOTCH3):c.6478C>T (p.Leu2160=)
|
|
|
NM_000435.3(NOTCH3):c.6505C>T (p.Pro2169Ser)
|
|
|
NM_000435.3(NOTCH3):c.6508dup (p.Leu2170fs)
|
rs1555725058
|
|
NM_000435.3(NOTCH3):c.650A>G (p.Asp217Gly)
|
|
|
NM_000435.3(NOTCH3):c.6520C>T (p.Arg2174Trp)
|
|
|
NM_000435.3(NOTCH3):c.6530dup (p.Pro2178fs)
|
|
|
NM_000435.3(NOTCH3):c.6536C>T (p.Ala2179Val)
|
|
|
NM_000435.3(NOTCH3):c.6538C>A (p.Pro2180Thr)
|
|
|
NM_000435.3(NOTCH3):c.6551C>T (p.Ser2184Leu)
|
|
|
NM_000435.3(NOTCH3):c.6559C>G (p.Leu2187Val)
|
rs969052177
|
|
NM_000435.3(NOTCH3):c.6560_6563dup (p.Leu2189fs)
|
rs1599359388
|
|
NM_000435.3(NOTCH3):c.6570G>C (p.Ala2190=)
|
|
|
NM_000435.3(NOTCH3):c.6578C>A (p.Pro2193His)
|
|
|
NM_000435.3(NOTCH3):c.6587_6592dup (p.Asn2197_Pro2198insLeuAsn)
|
|
|
NM_000435.3(NOTCH3):c.6633C>G (p.Tyr2211Ter)
|
rs935487877
|
|
NM_000435.3(NOTCH3):c.6633C>T (p.Tyr2211=)
|
|
|
NM_000435.3(NOTCH3):c.6643C>A (p.Pro2215Thr)
|
|
|
NM_000435.3(NOTCH3):c.664T>C (p.Cys222Arg)
|
|
|
NM_000435.3(NOTCH3):c.6655G>A (p.Glu2219Lys)
|
|
|
NM_000435.3(NOTCH3):c.6657G>A (p.Glu2219=)
|
|
|
NM_000435.3(NOTCH3):c.665G>A (p.Cys222Tyr)
|
rs1555729452
|
|
NM_000435.3(NOTCH3):c.665G>C (p.Cys222Ser)
|
|
|
NM_000435.3(NOTCH3):c.6663C>G (p.Tyr2221Ter)
|
rs869312911
|
|
NM_000435.3(NOTCH3):c.6668_6669delinsTT (p.Ala2223Val)
|
|
|
NM_000435.3(NOTCH3):c.6679C>T (p.His2227Tyr)
|
rs779441679
|
|
NM_000435.3(NOTCH3):c.6681C>G (p.His2227Gln)
|
rs1366113655
|
|
NM_000435.3(NOTCH3):c.6692del (p.Pro2231fs)
|
rs773656789
|
|
NM_000435.3(NOTCH3):c.6692dup (p.Ala2233fs)
|
rs773656789
|
|
NM_000435.3(NOTCH3):c.6694A>G (p.Lys2232Glu)
|
|
|
NM_000435.3(NOTCH3):c.6700C>T (p.Arg2234Cys)
|
|
|
NM_000435.3(NOTCH3):c.6705_6730del (p.Phe2235fs)
|
rs2145380263
|
|
NM_000435.3(NOTCH3):c.6709C>G (p.Arg2237Gly)
|
rs749189648
|
|
NM_000435.3(NOTCH3):c.6709C>T (p.Arg2237Trp)
|
|
|
NM_000435.3(NOTCH3):c.6710G>T (p.Arg2237Leu)
|
rs537601286
|
|
NM_000435.3(NOTCH3):c.671G>A (p.Cys224Tyr)
|
rs1555729451
|
|
NM_000435.3(NOTCH3):c.671G>T (p.Cys224Phe)
|
|
|
NM_000435.3(NOTCH3):c.6726C>T (p.His2242=)
|
|
|
NM_000435.3(NOTCH3):c.6727C>T (p.Pro2243Ser)
|
|
|
NM_000435.3(NOTCH3):c.6755C>T (p.Pro2252Leu)
|
rs201073642
|
|
NM_000435.3(NOTCH3):c.6766G>T (p.Ala2256Ser)
|
|
|
NM_000435.3(NOTCH3):c.6767C>G (p.Ala2256Gly)
|
|
|
NM_000435.3(NOTCH3):c.6767C>T (p.Ala2256Val)
|
|
|
NM_000435.3(NOTCH3):c.6786C>T (p.Ser2262=)
|
rs1378552176
|
|
NM_000435.3(NOTCH3):c.679+10C>G
|
rs975242904
|
|
NM_000435.3(NOTCH3):c.6792A>C (p.Ser2264=)
|
|
|
NM_000435.3(NOTCH3):c.680-13C>T
|
rs2145440937
|
|
NM_000435.3(NOTCH3):c.680-16C>T
|
|
|
NM_000435.3(NOTCH3):c.6801C>T (p.Ser2267=)
|
|
|
NM_000435.3(NOTCH3):c.6838A>G (p.Met2280Val)
|
|
|
NM_000435.3(NOTCH3):c.6841G>A (p.Ala2281Thr)
|
|
|
NM_000435.3(NOTCH3):c.6848C>T (p.Thr2283Ile)
|
|
|
NM_000435.3(NOTCH3):c.6850A>T (p.Thr2284Ser)
|
rs1177268940
|
|
NM_000435.3(NOTCH3):c.6863C>G (p.Pro2288Arg)
|
|
|
NM_000435.3(NOTCH3):c.6867C>T (p.Ala2289=)
|
|
|
NM_000435.3(NOTCH3):c.6873A>C (p.Pro2291=)
|
|
|
NM_000435.3(NOTCH3):c.6877C>T (p.Pro2293Ser)
|
|
|
NM_000435.3(NOTCH3):c.6885_6888del (p.Val2296fs)
|
|
|
NM_000435.3(NOTCH3):c.6905A>G (p.Gln2302Arg)
|
|
|
NM_000435.3(NOTCH3):c.6928C>T (p.Gln2310Ter)
|
|
|
NM_000435.3(NOTCH3):c.6932C>T (p.Pro2311Leu)
|
|
|
NM_000435.3(NOTCH3):c.714C>T (p.Asp238=)
|
|
|
NM_000435.3(NOTCH3):c.719G>A (p.Cys240Tyr)
|
rs1599394351
|
|
NM_000435.3(NOTCH3):c.719G>C (p.Cys240Ser)
|
|
|
NM_000435.3(NOTCH3):c.724G>C (p.Gly242Arg)
|
|
|
NM_000435.3(NOTCH3):c.727C>T (p.His243Tyr)
|
|
|
NM_000435.3(NOTCH3):c.733T>A (p.Cys245Ser)
|
|
|
NM_000435.3(NOTCH3):c.733T>C (p.Cys245Arg)
|
rs2145440767
|
|
NM_000435.3(NOTCH3):c.738C>T (p.Leu246=)
|
rs2145440752
|
|
NM_000435.3(NOTCH3):c.740A>G (p.Asn247Ser)
|
|
|
NM_000435.3(NOTCH3):c.742_743delinsAT (p.Gly248Met)
|
|
|
NM_000435.3(NOTCH3):c.748dup (p.Thr250fs)
|
|
|
NM_000435.3(NOTCH3):c.751T>A (p.Cys251Ser)
|
|
|
NM_000435.3(NOTCH3):c.751T>C (p.Cys251Arg)
|
rs1568361608
|
|
NM_000435.3(NOTCH3):c.752G>A (p.Cys251Tyr)
|
rs1555729405
|
|
NM_000435.3(NOTCH3):c.763G>A (p.Val255Ile)
|
rs1160655218
|
|
NM_000435.3(NOTCH3):c.770C>T (p.Thr257Ile)
|
|
|
NM_000435.3(NOTCH3):c.773A>G (p.Tyr258Cys)
|
rs947976672
|
|
NM_000435.3(NOTCH3):c.779G>T (p.Cys260Phe)
|
rs2046928618
|
|
NM_000435.3(NOTCH3):c.77C>T (p.Ala26Val)
|
rs1329279009
|
|
NM_000435.3(NOTCH3):c.78G>C (p.Ala26=)
|
|
|
NM_000435.3(NOTCH3):c.790C>T (p.Pro264Ser)
|
|
|
NM_000435.3(NOTCH3):c.798G>T (p.Trp266Cys)
|
rs2046928465
|
|
NM_000435.3(NOTCH3):c.802+12G>A
|
|
|
NM_000435.3(NOTCH3):c.802+6C>G
|
|
|
NM_000435.3(NOTCH3):c.803-3C>T
|
|
|
NM_000435.3(NOTCH3):c.810C>T (p.Phe270=)
|
rs2145440271
|
|
NM_000435.3(NOTCH3):c.811T>C (p.Cys271Arg)
|
rs2046927630
|
|
NM_000435.3(NOTCH3):c.812G>T (p.Cys271Phe)
|
|
|
NM_000435.3(NOTCH3):c.827A>T (p.Asp276Val)
|
|
|
NM_000435.3(NOTCH3):c.83C>G (p.Pro28Arg)
|
|
|
NM_000435.3(NOTCH3):c.865G>T (p.Gly289Cys)
|
rs1253499013
|
|
NM_000435.3(NOTCH3):c.867T>C (p.Gly289=)
|
|
|
NM_000435.3(NOTCH3):c.881C>T (p.Thr294Met)
|
|
|
NM_000435.3(NOTCH3):c.882G>A (p.Thr294=)
|
|
|
NM_000435.3(NOTCH3):c.895A>T (p.Ser299Cys)
|
rs2046926886
|
|
NM_000435.3(NOTCH3):c.900C>T (p.Cys300=)
|
|
|
NM_000435.3(NOTCH3):c.911A>G (p.Asn304Ser)
|
|
|
NM_000435.3(NOTCH3):c.912T>C (p.Asn304=)
|
rs1372388350
|
|
NM_000435.3(NOTCH3):c.924C>T (p.Gly308=)
|
rs1043995
|
|
NM_000435.3(NOTCH3):c.931T>G (p.Cys311Gly)
|
|
|
NM_000435.3(NOTCH3):c.932G>A (p.Cys311Tyr)
|
|
|
NM_000435.3(NOTCH3):c.932G>T (p.Cys311Phe)
|
rs1555729346
|
|
NM_000435.3(NOTCH3):c.93G>A (p.Leu31=)
|
rs1246904148
|
|
NM_000435.3(NOTCH3):c.953G>A (p.Cys318Tyr)
|
rs1568361404
|
|
NM_000435.3(NOTCH3):c.954T>G (p.Cys318Trp)
|
rs2145439818
|
|
NM_000435.3(NOTCH3):c.955_956delinsTG (p.Ala319Cys)
|
rs2145439810
|
|
NM_000435.3(NOTCH3):c.967T>A (p.Cys323Ser)
|
rs2145439777
|
|
NM_000435.3(NOTCH3):c.968G>A (p.Cys323Tyr)
|
|
|
NM_000435.3(NOTCH3):c.976G>A (p.Gly326Arg)
|
|
|
NM_000435.3(NOTCH3):c.985T>C (p.Cys329Arg)
|
|
|
NM_000435.3(NOTCH3):c.986G>A (p.Cys329Tyr)
|
rs2046925963
|
|
NM_000435.3(NOTCH3):c.994C>T (p.Arg332Cys)
|
rs137852641
|
|
NM_000435.3(NOTCH3):c.995G>A (p.Arg332His)
|
|
|