NM_024408.4(NOTCH2):c.1108+30A>G
|
rs2493409
|
0.97622
|
NM_024408.4(NOTCH2):c.3183+271T>G
|
rs4274109
|
0.97618
|
NM_024408.4(NOTCH2):c.3337+86A>G
|
rs2453057
|
0.97605
|
NM_024408.4(NOTCH2):c.3892+175G>A
|
rs2493393
|
0.97605
|
NM_024408.4(NOTCH2):c.3523-58A>G
|
rs5025718
|
0.65855
|
NM_024408.4(NOTCH2):c.5311-210G>A
|
rs835574
|
0.34505
|
NM_024408.4(NOTCH2):c.1567+196A>G
|
rs2493410
|
0.31756
|
NM_024408.4(NOTCH2):c.4859+152C>T
|
rs2793830
|
0.31554
|
NM_024408.4(NOTCH2):c.1568-335T>C
|
rs2453044
|
0.22723
|
NM_024408.4(NOTCH2):c.2753-44C>T
|
rs2493420
|
0.22074
|
NM_024408.4(NOTCH2):c.5310+171G>A
|
rs835573
|
0.22065
|
NM_024408.4(NOTCH2):c.415+257T>C
|
rs2596065
|
0.21000
|
NM_024408.4(NOTCH2):c.3655+97G>T
|
rs2453056
|
0.18120
|
NM_024408.4(NOTCH2):c.7341T>A (p.Gly2447=)
|
rs6685892
|
0.17147
|
NM_024408.4(NOTCH2):c.3184-76G>A
|
rs2453058
|
0.17132
|
NM_024408.4(NOTCH2):c.3656-22G>A
|
rs2493392
|
0.17120
|
NM_024408.4(NOTCH2):c.1915+89C>T
|
rs2934381
|
0.17105
|
NM_024408.4(NOTCH2):c.5782-77G>A
|
rs2793829
|
0.17093
|
NM_024408.4(NOTCH2):c.2365+47T>A
|
rs7534585
|
0.17014
|
NM_024408.4(NOTCH2):c.2365+39T>G
|
rs7534586
|
0.17007
|
NM_024408.4(NOTCH2):c.4005+45A>G
|
rs17258579
|
0.10623
|
NM_024408.4(NOTCH2):c.5930-249T>C
|
rs3897840
|
0.08755
|
NM_024408.4(NOTCH2):c.2026+251A>G
|
rs7553305
|
0.06768
|
NM_024408.4(NOTCH2):c.3234C>T (p.Cys1078=)
|
rs7543643
|
0.06759
|
NM_024408.4(NOTCH2):c.4860-183T>A
|
rs17024519
|
0.04913
|
NM_024408.4(NOTCH2):c.5311-24G>A
|
rs41306195
|
0.04756
|
NM_024408.4(NOTCH2):c.3523-125A>C
|
rs17024536
|
0.04670
|
NM_024408.4(NOTCH2):c.2026+303T>C
|
rs17024564
|
0.04669
|
NM_024408.4(NOTCH2):c.1915+165C>T
|
rs17024577
|
0.04667
|
NM_024408.4(NOTCH2):c.5480-232G>A
|
rs56342935
|
0.04664
|
NM_024408.4(NOTCH2):c.-23C>A
|
rs57122008
|
0.04253
|
NM_024408.4(NOTCH2):c.2480-246G>T
|
rs75023863
|
0.03994
|
NM_024408.4(NOTCH2):c.4512-147C>G
|
rs17024521
|
0.03729
|
NM_024408.4(NOTCH2):c.6028-116C>T
|
rs41277624
|
0.03531
|
NM_024408.4(NOTCH2):c.4511+52C>T
|
rs41302079
|
0.03499
|
NM_024408.4(NOTCH2):c.-214C>G
|
rs782173943
|
0.03173
|
NM_024408.4(NOTCH2):c.2982-118A>G
|
rs77938086
|
0.02780
|
NM_024408.4(NOTCH2):c.939C>T (p.Gly313=)
|
rs7533978
|
0.02663
|
NM_024408.4(NOTCH2):c.5929+113T>G
|
rs10494233
|
0.02148
|
NM_024408.4(NOTCH2):c.6421C>T (p.Leu2141=)
|
rs3795666
|
0.02137
|
NM_024408.4(NOTCH2):c.3183+288G>A
|
rs112932691
|
0.02010
|
NM_024408.4(NOTCH2):c.875-166G>C
|
rs60615590
|
0.01388
|
NM_024408.4(NOTCH2):c.2599+12G>C
|
rs74117573
|
0.01309
|
NM_024408.4(NOTCH2):c.4860-280G>A
|
rs17258565
|
0.01249
|
NM_024408.4(NOTCH2):c.5310+195T>G
|
rs3850868
|
0.01232
|
NM_024408.4(NOTCH2):c.4006-54A>G
|
rs6658796
|
0.01227
|
NM_024408.4(NOTCH2):c.4305G>A (p.Arg1435=)
|
rs6692009
|
0.01225
|
NM_024408.4(NOTCH2):c.2753-128C>T
|
rs75324530
|
0.01082
|
NM_024408.4(NOTCH2):c.4014C>T (p.Ser1338=)
|
rs17024525
|
0.00984
|
NM_024408.4(NOTCH2):c.272G>T (p.Arg91Leu)
|
rs143195893
|
0.00899
|
NM_024408.4(NOTCH2):c.874+312C>T
|
rs2453041
|
0.00894
|
NM_024408.4(NOTCH2):c.3117G>A (p.Thr1039=)
|
rs36084504
|
0.00817
|
NM_024408.4(NOTCH2):c.74-215C>T
|
rs587747605
|
0.00805
|
NM_024408.4(NOTCH2):c.4311C>T (p.Gly1437=)
|
rs34561092
|
0.00733
|
NM_024408.4(NOTCH2):c.155+50A>G
|
rs782139262
|
0.00633
|
NM_024408.4(NOTCH2):c.1453+67C>G
|
rs144716627
|
0.00600
|
NM_024408.4(NOTCH2):c.456C>T (p.Pro152=)
|
rs143287927
|
0.00531
|
NM_024408.4(NOTCH2):c.7075C>G (p.Pro2359Ala)
|
rs75831573
|
0.00493
|
NM_024408.4(NOTCH2):c.3980A>G (p.Asp1327Gly)
|
rs61752484
|
0.00477
|
NM_024408.4(NOTCH2):c.5214-49A>G
|
rs143658192
|
0.00418
|
NM_024408.4(NOTCH2):c.435G>A (p.Thr145=)
|
rs1615676
|
0.00405
|
NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His)
|
rs41313282
|
0.00375
|
NM_024408.4(NOTCH2):c.1567+12C>T
|
rs78223268
|
0.00306
|
NM_024408.4(NOTCH2):c.2585C>T (p.Ala862Val)
|
rs35656321
|
0.00266
|
NM_024408.4(NOTCH2):c.3625T>G (p.Phe1209Val)
|
rs147223770
|
0.00258
|
NM_024408.4(NOTCH2):c.3519C>T (p.Cys1173=)
|
rs115325955
|
0.00245
|
NM_024408.4(NOTCH2):c.7042T>C (p.Leu2348=)
|
rs61734328
|
0.00241
|
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His)
|
rs35586704
|
0.00228
|
NM_024408.4(NOTCH2):c.7G>T (p.Ala3Ser)
|
rs782113557
|
0.00218
|
NM_024408.4(NOTCH2):c.415+43G>T
|
rs200812134
|
0.00211
|
NM_024408.4(NOTCH2):c.-31G>C
|
rs782424628
|
0.00203
|
NM_024408.4(NOTCH2):c.1568-17C>T
|
rs373665797
|
0.00198
|
NM_024408.4(NOTCH2):c.5065A>T (p.Ile1689Phe)
|
rs60854092
|
0.00150
|
NM_024408.4(NOTCH2):c.4122C>T (p.Cys1374=)
|
rs74117504
|
0.00143
|
NM_024408.4(NOTCH2):c.6223G>A (p.Val2075Met)
|
rs150516342
|
0.00141
|
NM_024408.4(NOTCH2):c.6094C>A (p.His2032Asn)
|
rs143236410
|
0.00131
|
NM_024408.4(NOTCH2):c.1108+14G>A
|
rs377649578
|
0.00098
|
NM_024408.4(NOTCH2):c.4897G>A (p.Val1633Ile)
|
rs116321057
|
0.00085
|
NM_024408.4(NOTCH2):c.2830G>T (p.Asp944Tyr)
|
rs151130105
|
0.00067
|
NM_024408.4(NOTCH2):c.2981+11A>G
|
rs148899572
|
0.00063
|
NM_024408.4(NOTCH2):c.423G>A (p.Glu141=)
|
rs149906722
|
0.00058
|
NM_024408.4(NOTCH2):c.1109-26T>G
|
rs137866235
|
0.00055
|
NM_024408.4(NOTCH2):c.1541A>G (p.Asn514Ser)
|
rs34308573
|
0.00052
|
NM_024408.4(NOTCH2):c.6363G>C (p.Lys2121Asn)
|
rs144047610
|
0.00050
|
NM_024408.4(NOTCH2):c.5479+46A>G
|
rs200559571
|
0.00048
|
NM_024408.4(NOTCH2):c.1396C>A (p.Gln466Lys)
|
rs141935585
|
0.00047
|
NM_024408.4(NOTCH2):c.2479+34G>A
|
rs368529597
|
0.00047
|
NM_024408.4(NOTCH2):c.3655+54A>G
|
rs587664838
|
0.00047
|
NM_024408.4(NOTCH2):c.2042T>A (p.Ile681Asn)
|
rs74882029
|
0.00026
|
NM_024408.4(NOTCH2):c.5480-25T>C
|
rs74771463
|
0.00014
|
NM_024408.4(NOTCH2):c.4860-37A>C
|
rs201778348
|
0.00009
|
NM_024408.4(NOTCH2):c.215G>A (p.Arg72His)
|
rs201838650
|
0.00006
|
NM_024408.4(NOTCH2):c.4155C>T (p.His1385=)
|
rs764948417
|
0.00006
|
NM_024408.4(NOTCH2):c.5624G>A (p.Arg1875Gln)
|
rs148613210
|
0.00004
|
NM_024408.4(NOTCH2):c.4688G>A (p.Arg1563His)
|
rs767706572
|
0.00003
|
NM_024408.4(NOTCH2):c.6924G>A (p.Gln2308=)
|
rs376191548
|
0.00002
|
NM_024408.4(NOTCH2):c.2026+6G>T
|
rs587731563
|
0.00001
|
NM_024408.4(NOTCH2):c.2480-49C>T
|
rs374826343
|
0.00001
|
NM_024408.4(NOTCH2):c.2993A>G (p.Asn998Ser)
|
rs782277113
|
0.00001
|
NM_024408.4(NOTCH2):c.4457C>T (p.Thr1486Met)
|
rs762374093
|
0.00001
|
NM_024408.4(NOTCH2):c.6027+47C>A
|
rs375910689
|
0.00001
|
NM_024408.4(NOTCH2):c.7198C>T (p.Arg2400Ter)
|
rs1325403451
|
0.00001
|
NM_024408.4(NOTCH2):c.760G>T (p.Gly254Trp)
|
rs1553202314
|
0.00001
|
GRCh38/hg38 1p12(chr1:120014117-120092791)x3
|
|
|
GRCh38/hg38 1p12(chr1:120026791-120092791)x3
|
|
|
NC_000001.11:g.120069683C>A
|
rs11487653
|
|
NC_000001.11:g.120069858C>A
|
rs868940860
|
|
NM_024408.4(NOTCH2):c.1019A>G (p.Asp340Gly)
|
rs1557826735
|
|
NM_024408.4(NOTCH2):c.1072G>T (p.Ala358Ser)
|
|
|
NM_024408.4(NOTCH2):c.1132G>A (p.Ala378Thr)
|
|
|
NM_024408.4(NOTCH2):c.1184T>A (p.Leu395Gln)
|
|
|
NM_024408.4(NOTCH2):c.1313G>A (p.Gly438Asp)
|
rs781957465
|
|
NM_024408.4(NOTCH2):c.1318T>A (p.Phe440Ile)
|
|
|
NM_024408.4(NOTCH2):c.1436C>T (p.Thr479Ile)
|
rs2101143667
|
|
NM_024408.4(NOTCH2):c.1775C>A (p.Thr592Asn)
|
rs1651030166
|
|
NM_024408.4(NOTCH2):c.1823T>C (p.Ile608Thr)
|
|
|
NM_024408.4(NOTCH2):c.1915+201C>G
|
rs10923929
|
|
NM_024408.4(NOTCH2):c.2027-231C>G
|
rs4659250
|
|
NM_024408.4(NOTCH2):c.2365+216_2365+217dup
|
rs10695258
|
|
NM_024408.4(NOTCH2):c.2365+216_2365+218dup
|
rs10695258
|
|
NM_024408.4(NOTCH2):c.2365+216dup
|
rs10695258
|
|
NM_024408.4(NOTCH2):c.2365+229del
|
rs10695258
|
|
NM_024408.4(NOTCH2):c.2365+232C>G
|
rs2453055
|
|
NM_024408.4(NOTCH2):c.2399C>T (p.Ala800Val)
|
|
|
NM_024408.4(NOTCH2):c.2480-188dup
|
rs199631705
|
|
NM_024408.4(NOTCH2):c.2480-257G>A
|
rs183533563
|
|
NM_024408.4(NOTCH2):c.2480-278dup
|
rs1175930294
|
|
NM_024408.4(NOTCH2):c.2597A>T (p.Gln866Leu)
|
rs2101115501
|
|
NM_024408.4(NOTCH2):c.2641C>A (p.Pro881Thr)
|
|
|
NM_024408.4(NOTCH2):c.2981+133_2981+135del
|
rs112156947
|
|
NM_024408.4(NOTCH2):c.3467A>C (p.Asn1156Thr)
|
|
|
NM_024408.4(NOTCH2):c.3G>C (p.Met1Ile)
|
rs56159748
|
|
NM_024408.4(NOTCH2):c.415G>C (p.Gly139Arg)
|
rs1131692007
|
|
NM_024408.4(NOTCH2):c.4457del (p.Thr1486fs)
|
rs1064793660
|
|
NM_024408.4(NOTCH2):c.4462G>C (p.Glu1488Gln)
|
rs1131691315
|
|
NM_024408.4(NOTCH2):c.4752G>C (p.Gln1584His)
|
rs1649366904
|
|
NM_024408.4(NOTCH2):c.4991T>A (p.Val1664Glu)
|
|
|
NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile)
|
rs17024517
|
|
NM_024408.4(NOTCH2):c.4999G>T (p.Val1667Phe)
|
rs17024517
|
|
NM_024408.4(NOTCH2):c.5195A>G (p.Gln1732Arg)
|
rs2101154174
|
|
NM_024408.4(NOTCH2):c.5518G>A (p.Gly1840Ser)
|
rs1064796810
|
|
NM_024408.4(NOTCH2):c.5723A>G (p.Asn1908Ser)
|
rs1649194488
|
|
NM_024408.4(NOTCH2):c.5798G>A (p.Arg1933Gln)
|
|
|
NM_024408.4(NOTCH2):c.5894A>G (p.Asn1965Ser)
|
rs2101148035
|
|
NM_024408.4(NOTCH2):c.5951C>A (p.Ala1984Glu)
|
|
|
NM_024408.4(NOTCH2):c.5954C>A (p.Ala1985Asp)
|
rs2101146997
|
|
NM_024408.4(NOTCH2):c.61G>A (p.Ala21Thr)
|
rs2603926
|
|
NM_024408.4(NOTCH2):c.6212C>T (p.Pro2071Leu)
|
rs2101144758
|
|
NM_024408.4(NOTCH2):c.6424T>C (p.Ser2142Pro)
|
rs2101144199
|
|
NM_024408.4(NOTCH2):c.6424_6427del (p.Ser2142fs)
|
rs1064793515
|
|
NM_024408.4(NOTCH2):c.6533C>A (p.Ala2178Asp)
|
rs770234870
|
|
NM_024408.4(NOTCH2):c.6588G>C (p.Gln2196His)
|
|
|
NM_024408.4(NOTCH2):c.6618A>C (p.Glu2206Asp)
|
rs2101143543
|
|
NM_024408.4(NOTCH2):c.6659C>G (p.Ser2220Ter)
|
rs886041979
|
|
NM_024408.4(NOTCH2):c.6671T>C (p.Leu2224Ser)
|
|
|
NM_024408.4(NOTCH2):c.6758G>A (p.Trp2253Ter)
|
rs1553193524
|
|
NM_024408.4(NOTCH2):c.6787C>T (p.Gln2263Ter)
|
rs886041862
|
|
NM_024408.4(NOTCH2):c.6806G>T (p.Gly2269Val)
|
rs1553193512
|
|
NM_024408.4(NOTCH2):c.7021C>T (p.Gln2341Ter)
|
|
|
NM_024408.4(NOTCH2):c.7195G>A (p.Glu2399Lys)
|
|
|
NM_024408.4(NOTCH2):c.7205C>G (p.Pro2402Arg)
|
|
|
NM_024408.4(NOTCH2):c.752-45T>G
|
rs2453040
|
|
NM_024408.4(NOTCH2):c.801C>A (p.His267Gln)
|
rs1553202301
|
|
NM_024408.4(NOTCH2):c.820G>A (p.Val274Ile)
|
|
|
NM_024408.4(NOTCH2):c.846C>T (p.Tyr282=)
|
|
|
NM_024408.4(NOTCH2):c.965A>G (p.Tyr322Cys)
|
rs1557826779
|
|
NM_024408.4(NOTCH2):c.983A>G (p.Asn328Ser)
|
rs2101148388
|
|