NM_000501.4(ELN):c.1315+17C>T
|
rs2856728
|
0.79828
|
NM_000501.4(ELN):c.2033-16A>G
|
rs45618836
|
0.02805
|
NM_000501.4(ELN):c.2086+5G>C
|
rs111866046
|
0.02303
|
NM_000501.4(ELN):c.427+8C>T
|
rs55868272
|
0.01032
|
NM_000501.4(ELN):c.1622-13C>T
|
rs41362346
|
0.00728
|
NM_000501.4(ELN):c.1388A>G (p.Lys463Arg)
|
rs34945509
|
0.00505
|
NM_000501.4(ELN):c.493G>T (p.Val165Leu)
|
rs61734581
|
0.00472
|
NM_000501.4(ELN):c.892G>A (p.Val298Ile)
|
rs41526244
|
0.00347
|
NM_000501.4(ELN):c.921A>G (p.Ala307=)
|
rs6979788
|
0.00327
|
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp)
|
rs41511151
|
0.00318
|
NM_000501.4(ELN):c.1279C>G (p.Pro427Ala)
|
rs144341345
|
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_000501.4(ELN):c.1858+20G>A
|
rs200965648
|
0.00270
|
NM_000501.4(ELN):c.1861G>A (p.Ala621Thr)
|
rs150404125
|
0.00142
|
NM_000501.4(ELN):c.1358-253G>A
|
rs370619098
|
0.00136
|
NM_000501.4(ELN):c.1821G>C (p.Gly607=)
|
rs144835575
|
0.00109
|
NM_000501.4(ELN):c.469+14G>A
|
rs41347751
|
0.00103
|
NM_000501.4(ELN):c.1358-268A>G
|
rs374066807
|
0.00102
|
NM_000501.4(ELN):c.259T>C (p.Phe87Leu)
|
rs140411170
|
0.00080
|
NM_000501.4(ELN):c.1232T>G (p.Val411Gly)
|
rs200180992
|
0.00073
|
NM_000501.4(ELN):c.212C>T (p.Ala71Val)
|
rs41350445
|
0.00073
|
NM_000501.4(ELN):c.326-20C>T
|
rs200397639
|
0.00066
|
NM_000501.4(ELN):c.1507G>A (p.Val503Met)
|
rs41523046
|
0.00057
|
NM_000501.4(ELN):c.470-10C>G
|
rs200663056
|
0.00053
|
NM_000501.4(ELN):c.278C>T (p.Pro93Leu)
|
rs181019457
|
0.00048
|
NM_000501.4(ELN):c.1621+12G>A
|
rs200937895
|
0.00046
|
NM_000501.4(ELN):c.1697C>T (p.Ala566Val)
|
rs138876104
|
0.00043
|
NM_000501.4(ELN):c.326G>A (p.Gly109Asp)
|
rs145519139
|
0.00040
|
NM_000501.4(ELN):c.1358-225T>C
|
rs375867140
|
0.00036
|
NM_000501.4(ELN):c.1358-199G>A
|
rs781963901
|
0.00034
|
NM_000501.4(ELN):c.366A>G (p.Gly122=)
|
rs61734587
|
0.00034
|
NM_000501.4(ELN):c.647G>T (p.Gly216Val)
|
rs145612009
|
0.00034
|
NM_000501.4(ELN):c.931G>A (p.Ala311Thr)
|
rs41376344
|
0.00034
|
NM_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_000501.4(ELN):c.1747+109A>G
|
rs782414975
|
0.00029
|
NM_000501.4(ELN):c.1747+82C>A
|
rs186744935
|
0.00029
|
NM_000501.4(ELN):c.1909G>A (p.Ala637Thr)
|
rs536177240
|
0.00026
|
NM_000501.4(ELN):c.1414+19C>T
|
rs201440090
|
0.00025
|
NM_000501.4(ELN):c.930C>T (p.Ala310=)
|
rs147367888
|
0.00025
|
NM_000501.4(ELN):c.861G>A (p.Gly287=)
|
rs368610108
|
0.00024
|
NM_000501.4(ELN):c.1358-234G>C
|
rs1011146056
|
0.00022
|
NM_000501.4(ELN):c.1373C>A (p.Ala458Glu)
|
rs149117932
|
0.00021
|
NM_000501.4(ELN):c.1747+83C>T
|
rs191593990
|
0.00021
|
NM_000501.4(ELN):c.1994-7T>G
|
rs375277198
|
0.00020
|
NM_000501.4(ELN):c.381G>A (p.Ala127=)
|
rs148216123
|
0.00019
|
NM_000501.4(ELN):c.427+9G>A
|
rs370752724
|
0.00019
|
NM_000501.4(ELN):c.949+14G>A
|
rs200929398
|
0.00019
|
NM_000501.4(ELN):c.1467C>T (p.Val489=)
|
rs200512332
|
0.00017
|
NM_000501.4(ELN):c.1747+26C>T
|
rs371491330
|
0.00017
|
NM_000501.4(ELN):c.992C>T (p.Pro331Leu)
|
rs138504338
|
0.00017
|
NM_000501.4(ELN):c.1338C>T (p.Ala446=)
|
rs146576615
|
0.00016
|
NM_000501.4(ELN):c.249C>T (p.Pro83=)
|
rs565001805
|
0.00016
|
NM_000501.4(ELN):c.1675G>A (p.Val559Ile)
|
rs560081099
|
0.00015
|
NM_000501.4(ELN):c.1747+23G>A
|
rs368791422
|
0.00015
|
NM_000501.4(ELN):c.232+3G>A
|
rs377172364
|
0.00015
|
NM_000501.4(ELN):c.1317C>T (p.Pro439=)
|
rs201861098
|
0.00014
|
NM_000501.4(ELN):c.1339G>A (p.Ala447Thr)
|
rs139335797
|
0.00013
|
NM_000501.4(ELN):c.1358-236G>A
|
rs529133775
|
0.00013
|
NM_000501.4(ELN):c.196+18G>A
|
rs374473857
|
0.00012
|
NM_000501.4(ELN):c.35G>T (p.Gly12Val)
|
rs367634266
|
0.00012
|
NM_000501.4(ELN):c.710G>C (p.Gly237Ala)
|
rs934014841
|
0.00012
|
NM_000501.4(ELN):c.1357+9C>A
|
rs372800803
|
0.00011
|
NM_000501.4(ELN):c.1358-209C>T
|
rs569004868
|
0.00011
|
NM_000501.4(ELN):c.165G>A (p.Ala55=)
|
rs376512299
|
0.00011
|
NM_000501.4(ELN):c.1825C>T (p.Leu609Phe)
|
rs200133966
|
0.00011
|
NM_000501.4(ELN):c.202G>A (p.Gly68Arg)
|
rs372566075
|
0.00011
|
NM_000501.4(ELN):c.717G>A (p.Ala239=)
|
rs782502253
|
0.00011
|
NM_000501.4(ELN):c.1043G>A (p.Gly348Glu)
|
rs186728715
|
0.00010
|
NM_000501.4(ELN):c.1149C>T (p.Tyr383=)
|
rs199621188
|
0.00010
|
NM_000501.4(ELN):c.1414+20G>A
|
rs200995478
|
0.00010
|
NM_000501.4(ELN):c.460G>A (p.Val154Met)
|
rs145669576
|
0.00010
|
NM_000501.4(ELN):c.1918+19T>G
|
rs557259683
|
0.00009
|
NM_000501.4(ELN):c.554C>G (p.Ala185Gly)
|
rs781956448
|
0.00009
|
NM_000501.4(ELN):c.1358-198G>A
|
rs192461213
|
0.00008
|
NM_000501.4(ELN):c.2051G>A (p.Gly684Asp)
|
rs150984896
|
0.00008
|
NM_000501.4(ELN):c.34G>A (p.Gly12Arg)
|
rs149127344
|
0.00008
|
NM_000501.4(ELN):c.644-8C>T
|
rs201859539
|
0.00008
|
NM_000501.4(ELN):c.1206G>T (p.Gly402=)
|
rs552147776
|
0.00007
|
NM_000501.4(ELN):c.1315+1G>A
|
rs782568267
|
0.00007
|
NM_000501.4(ELN):c.133+11T>C
|
rs28763980
|
0.00007
|
NM_000501.4(ELN):c.1537G>A (p.Val513Ile)
|
rs372788076
|
0.00007
|
NM_000501.4(ELN):c.240C>T (p.Gly80=)
|
rs138649857
|
0.00007
|
NM_000501.4(ELN):c.403G>A (p.Gly135Arg)
|
rs373650953
|
0.00007
|
NM_000501.4(ELN):c.914C>T (p.Ala305Val)
|
rs782396192
|
0.00007
|
NM_000501.4(ELN):c.1150+1G>A
|
rs727503030
|
0.00006
|
NM_000501.4(ELN):c.1216G>A (p.Gly406Ser)
|
rs782563418
|
0.00006
|
NM_000501.4(ELN):c.1234G>A (p.Gly412Arg)
|
rs375116795
|
0.00006
|
NM_000501.4(ELN):c.1322C>T (p.Ala441Val)
|
rs200444292
|
0.00006
|
NM_000501.4(ELN):c.1358-192C>T
|
rs185060213
|
0.00006
|
NM_000501.4(ELN):c.1543G>A (p.Val515Met)
|
rs376258672
|
0.00006
|
NM_000501.4(ELN):c.1590C>T (p.Ser530=)
|
rs782526296
|
0.00006
|
NM_000501.4(ELN):c.1767C>T (p.Ala589=)
|
rs117816525
|
0.00006
|
NM_000501.4(ELN):c.1875C>T (p.Ala625=)
|
rs782752342
|
0.00006
|
NM_000501.4(ELN):c.2032G>A (p.Gly678Ser)
|
rs375579231
|
0.00006
|
NM_000501.4(ELN):c.2060G>A (p.Gly687Glu)
|
rs139547471
|
0.00006
|
NM_000501.4(ELN):c.483C>T (p.Pro161=)
|
rs150690195
|
0.00006
|
NM_000501.4(ELN):c.659C>T (p.Pro220Leu)
|
rs201012726
|
0.00006
|
NM_000501.4(ELN):c.773C>T (p.Ala258Val)
|
rs531144748
|
0.00006
|
NM_000501.4(ELN):c.886G>A (p.Ala296Thr)
|
rs782335529
|
0.00006
|
NM_000501.4(ELN):c.1358-186C>T
|
rs782074494
|
0.00005
|
NM_000501.4(ELN):c.145G>A (p.Gly49Arg)
|
rs144757453
|
0.00005
|
NM_000501.4(ELN):c.2032+19C>T
|
rs782201561
|
0.00005
|
NM_000501.4(ELN):c.213G>A (p.Ala71=)
|
rs202194806
|
0.00005
|
NM_000501.4(ELN):c.473C>T (p.Ala158Val)
|
rs201137255
|
0.00005
|
NM_000501.4(ELN):c.1063C>G (p.Pro355Ala)
|
rs782505248
|
0.00004
|
NM_000501.4(ELN):c.1287C>T (p.Val429=)
|
rs200666061
|
0.00004
|
NM_000501.4(ELN):c.1348G>A (p.Ala450Thr)
|
rs782546858
|
0.00004
|
NM_000501.4(ELN):c.1358-185G>A
|
rs782737850
|
0.00004
|
NM_000501.4(ELN):c.159A>T (p.Gly53=)
|
rs200810494
|
0.00004
|
NM_000501.4(ELN):c.164-2A>C
|
rs782096458
|
0.00004
|
NM_000501.4(ELN):c.1671C>T (p.Val557=)
|
rs563533415
|
0.00004
|
NM_000501.4(ELN):c.1674C>T (p.Gly558=)
|
rs182784538
|
0.00004
|
NM_000501.4(ELN):c.1747+49G>C
|
rs201047209
|
0.00004
|
NM_000501.4(ELN):c.1859-15G>A
|
rs369551022
|
0.00004
|
NM_000501.4(ELN):c.1872C>T (p.Ala624=)
|
rs781807182
|
0.00004
|
NM_000501.4(ELN):c.18G>A (p.Ala6=)
|
rs542540015
|
0.00004
|
NM_000501.4(ELN):c.1932C>T (p.Ala644=)
|
rs782238627
|
0.00004
|
NM_000501.4(ELN):c.1951G>A (p.Gly651Arg)
|
rs34852121
|
0.00004
|
NM_000501.4(ELN):c.2067C>T (p.Ala689=)
|
rs782657493
|
0.00004
|
NM_000501.4(ELN):c.2077C>T (p.Pro693Ser)
|
rs369804770
|
0.00004
|
NM_000501.4(ELN):c.2086+7G>T
|
rs782306052
|
0.00004
|
NM_000501.4(ELN):c.2132-5T>A
|
rs539160518
|
0.00004
|
NM_000501.4(ELN):c.414T>C (p.Pro138=)
|
rs782230185
|
0.00004
|
NM_000501.4(ELN):c.478T>C (p.Phe160Leu)
|
rs781857513
|
0.00004
|
NM_000501.4(ELN):c.528G>A (p.Lys176=)
|
rs782412839
|
0.00004
|
NM_000501.4(ELN):c.540A>C (p.Pro180=)
|
rs145778002
|
0.00004
|
NM_000501.4(ELN):c.593C>T (p.Pro198Leu)
|
rs146729533
|
0.00004
|
NM_000501.4(ELN):c.643+16G>A
|
rs199662424
|
0.00004
|
NM_000501.4(ELN):c.696C>T (p.Pro232=)
|
rs148054981
|
0.00004
|
NM_000501.4(ELN):c.799G>A (p.Gly267Ser)
|
rs150092063
|
0.00004
|
NM_000501.4(ELN):c.853G>A (p.Val285Met)
|
rs199709542
|
0.00004
|
NM_000501.4(ELN):c.92G>A (p.Gly31Glu)
|
rs782625771
|
0.00004
|
NM_000501.4(ELN):c.1168G>A (p.Gly390Arg)
|
rs372889752
|
0.00003
|
NM_000501.4(ELN):c.1202C>T (p.Ala401Val)
|
rs782493042
|
0.00003
|
NM_000501.4(ELN):c.134-4dup
|
rs878854451
|
0.00003
|
NM_000501.4(ELN):c.134-6C>A
|
rs368904789
|
0.00003
|
NM_000501.4(ELN):c.1358-230G>A
|
rs550475158
|
0.00003
|
NM_000501.4(ELN):c.1404C>T (p.Ala468=)
|
rs189952915
|
0.00003
|
NM_000501.4(ELN):c.1435G>A (p.Val479Met)
|
rs925528680
|
0.00003
|
NM_000501.4(ELN):c.1943G>A (p.Gly648Glu)
|
rs140085632
|
0.00003
|
NM_000501.4(ELN):c.1994-13C>T
|
rs532271061
|
0.00003
|
NM_000501.4(ELN):c.2020G>A (p.Ala674Thr)
|
rs782535492
|
0.00003
|
NM_000501.4(ELN):c.470-5G>A
|
rs368292481
|
0.00003
|
NM_000501.4(ELN):c.470-8C>G
|
rs781877758
|
0.00003
|
NM_000501.4(ELN):c.476G>A (p.Arg159Gln)
|
rs369045063
|
0.00003
|
NM_000501.4(ELN):c.799+10C>T
|
rs781812932
|
0.00003
|
NM_000501.4(ELN):c.1097-3C>T
|
rs782265101
|
0.00002
|
NM_000501.4(ELN):c.113C>G (p.Pro38Arg)
|
rs781951450
|
0.00002
|
NM_000501.4(ELN):c.1282G>A (p.Gly428Arg)
|
rs200862792
|
0.00002
|
NM_000501.4(ELN):c.1288G>A (p.Gly430Arg)
|
rs374470120
|
0.00002
|
NM_000501.4(ELN):c.1299G>A (p.Pro433=)
|
rs367742656
|
0.00002
|
NM_000501.4(ELN):c.133+6G>A
|
rs1216357938
|
0.00002
|
NM_000501.4(ELN):c.1358-232G>C
|
rs782246342
|
0.00002
|
NM_000501.4(ELN):c.1434C>T (p.Gly478=)
|
rs781926084
|
0.00002
|
NM_000501.4(ELN):c.1622-14C>T
|
rs782637446
|
0.00002
|
NM_000501.4(ELN):c.164C>T (p.Ala55Val)
|
rs1411248717
|
0.00002
|
NM_000501.4(ELN):c.1747+21C>T
|
rs782679593
|
0.00002
|
NM_000501.4(ELN):c.1950C>T (p.Leu650=)
|
rs373342218
|
0.00002
|
NM_000501.4(ELN):c.196+13G>C
|
rs370961040
|
0.00002
|
NM_000501.4(ELN):c.20C>T (p.Ala7Val)
|
rs559210020
|
0.00002
|
NM_000501.4(ELN):c.2131+14C>T
|
rs782790041
|
0.00002
|
NM_000501.4(ELN):c.2132-6G>A
|
rs781831349
|
0.00002
|
NM_000501.4(ELN):c.295G>A (p.Ala99Thr)
|
rs782660886
|
0.00002
|
NM_000501.4(ELN):c.367G>A (p.Val123Met)
|
rs1480312927
|
0.00002
|
NM_000501.4(ELN):c.377-5G>A
|
rs571360232
|
0.00002
|
NM_000501.4(ELN):c.549T>G (p.Gly183=)
|
rs782332803
|
0.00002
|
NM_000501.4(ELN):c.683A>G (p.Tyr228Cys)
|
rs1471237206
|
0.00002
|
NM_000501.4(ELN):c.686-17G>A
|
rs149812011
|
0.00002
|
NM_000501.4(ELN):c.800-12C>G
|
rs370561295
|
0.00002
|
NM_000501.4(ELN):c.8G>A (p.Gly3Asp)
|
rs1198683869
|
0.00002
|
NM_000501.4(ELN):c.1009C>T (p.Pro337Ser)
|
rs1340826777
|
0.00001
|
NM_000501.4(ELN):c.1027G>C (p.Gly343Arg)
|
rs781939749
|
0.00001
|
NM_000501.4(ELN):c.1050G>C (p.Gly350=)
|
rs782727999
|
0.00001
|
NM_000501.4(ELN):c.1089G>A (p.Ala363=)
|
rs782204123
|
0.00001
|
NM_000501.4(ELN):c.1138G>A (p.Ala380Thr)
|
rs973649598
|
0.00001
|
NM_000501.4(ELN):c.1150G>A (p.Gly384Arg)
|
rs782359367
|
0.00001
|
NM_000501.4(ELN):c.1191C>T (p.Tyr397=)
|
rs782798160
|
0.00001
|
NM_000501.4(ELN):c.119G>T (p.Gly40Val)
|
rs55951999
|
0.00001
|
NM_000501.4(ELN):c.1233C>T (p.Val411=)
|
rs202052596
|
0.00001
|
NM_000501.4(ELN):c.1281C>T (p.Pro427=)
|
rs376496267
|
0.00001
|
NM_000501.4(ELN):c.1300G>A (p.Gly434Arg)
|
rs782630866
|
0.00001
|
NM_000501.4(ELN):c.1316-12G>A
|
rs782357759
|
0.00001
|
NM_000501.4(ELN):c.1316-18T>C
|
rs782574590
|
0.00001
|
NM_000501.4(ELN):c.133+20C>T
|
rs782637996
|
0.00001
|
NM_000501.4(ELN):c.133+5C>T
|
rs375144839
|
0.00001
|
NM_000501.4(ELN):c.134-14C>T
|
rs782028490
|
0.00001
|
NM_000501.4(ELN):c.134-16T>C
|
rs782791376
|
0.00001
|
NM_000501.4(ELN):c.1358-235G>A
|
rs1293346828
|
0.00001
|
NM_000501.4(ELN):c.1366A>G (p.Thr456Ala)
|
rs370603113
|
0.00001
|
NM_000501.4(ELN):c.1463G>A (p.Gly488Asp)
|
rs1383828155
|
0.00001
|
NM_000501.4(ELN):c.1506C>T (p.Gly502=)
|
rs533649697
|
0.00001
|
NM_000501.4(ELN):c.1577-2A>T
|
rs1230920104
|
0.00001
|
NM_000501.4(ELN):c.1577-4T>C
|
rs1554683264
|
0.00001
|
NM_000501.4(ELN):c.1606G>T (p.Ala536Ser)
|
rs374253638
|
0.00001
|
NM_000501.4(ELN):c.1622-6C>T
|
rs1280128851
|
0.00001
|
NM_000501.4(ELN):c.163+13A>G
|
rs782388951
|
0.00001
|
NM_000501.4(ELN):c.1640G>A (p.Gly547Asp)
|
rs150248865
|
0.00001
|
NM_000501.4(ELN):c.1747+14A>G
|
rs1438687754
|
0.00001
|
NM_000501.4(ELN):c.1747+80C>T
|
rs369548102
|
0.00001
|
NM_000501.4(ELN):c.1747+81A>G
|
rs782668288
|
0.00001
|
NM_000501.4(ELN):c.1747+92A>C
|
rs782216165
|
0.00001
|
NM_000501.4(ELN):c.1768G>A (p.Ala590Thr)
|
rs868932429
|
0.00001
|
NM_000501.4(ELN):c.1785T>C (p.Tyr595=)
|
rs727503033
|
0.00001
|
NM_000501.4(ELN):c.1787-8C>G
|
rs782713818
|
0.00001
|
NM_000501.4(ELN):c.1787G>A (p.Gly596Glu)
|
rs1554685979
|
0.00001
|
NM_000501.4(ELN):c.1849G>A (p.Gly617Ser)
|
rs781904032
|
0.00001
|
NM_000501.4(ELN):c.1869C>T (p.Pro623=)
|
rs530876235
|
0.00001
|
NM_000501.4(ELN):c.1876G>A (p.Ala626Thr)
|
rs781861907
|
0.00001
|
NM_000501.4(ELN):c.1879G>A (p.Ala627Thr)
|
rs552662894
|
0.00001
|
NM_000501.4(ELN):c.1916T>C (p.Phe639Ser)
|
rs782280724
|
0.00001
|
NM_000501.4(ELN):c.1956C>T (p.Val652=)
|
rs1469217967
|
0.00001
|
NM_000501.4(ELN):c.1966G>A (p.Gly656Arg)
|
rs782783288
|
0.00001
|
NM_000501.4(ELN):c.1994-2A>C
|
rs1440841207
|
0.00001
|
NM_000501.4(ELN):c.2032+1G>A
|
rs781859711
|
0.00001
|
NM_000501.4(ELN):c.2086+8del
|
rs782078342
|
0.00001
|
NM_000501.4(ELN):c.233-4G>A
|
rs782410717
|
0.00001
|
NM_000501.4(ELN):c.42C>T (p.Leu14=)
|
rs1554660052
|
0.00001
|
NM_000501.4(ELN):c.443G>A (p.Gly148Asp)
|
rs781952083
|
0.00001
|
NM_000501.4(ELN):c.482C>G (p.Pro161Arg)
|
rs1792196459
|
0.00001
|
NM_000501.4(ELN):c.686-2A>G
|
rs782390271
|
0.00001
|
NM_000501.4(ELN):c.689A>T (p.Tyr230Phe)
|
rs1411516655
|
0.00001
|
NM_000501.4(ELN):c.6G>A (p.Ala2=)
|
rs782540463
|
0.00001
|
NM_000501.4(ELN):c.767C>T (p.Ala256Val)
|
rs782285456
|
0.00001
|
NM_000501.4(ELN):c.798C>T (p.Phe266=)
|
rs552274876
|
0.00001
|
NM_000501.4(ELN):c.84G>A (p.Gly28=)
|
rs782193520
|
0.00001
|
NM_000501.4(ELN):c.870T>C (p.Pro290=)
|
rs1794105324
|
0.00001
|
NM_000501.4(ELN):c.885C>T (p.Ile295=)
|
rs782196025
|
0.00001
|
NM_000501.4(ELN):c.898A>T (p.Thr300Ser)
|
rs766735416
|
0.00001
|
NM_000501.4(ELN):c.901C>G (p.Pro301Ala)
|
rs900409298
|
0.00001
|
NC_000007.13:g.(?_73150889)_(73604636_?)del
|
|
|
NC_000007.13:g.(?_73442119)_(73484237_?)del
|
|
|
NC_000007.13:g.(?_73442498)_(73483050_?)del
|
|
|
NC_000007.13:g.(?_73442518)_(73449764_?)del
|
|
|
NC_000007.13:g.(?_73442518)_(73475489_?)dup
|
|
|
NC_000007.13:g.(?_73442518)_(73483030_?)del
|
|
|
NC_000007.13:g.(?_73442518)_(73483030_?)dup
|
|
|
NC_000007.13:g.(?_73461985)_(73483030_?)del
|
|
|
NC_000007.13:g.(?_73471702)_(73483040_?)del
|
|
|
NC_000007.13:g.(?_73477473)_(73478035_?)del
|
|
|
NC_000007.13:g.(?_73480004)_(73481126_?)del
|
|
|
NC_000007.13:g.(?_73482987)_(73484237_?)del
|
|
|
NC_000007.14:g.(?_74028168)_(74028289_?)del
|
|
|
NC_000007.14:g.(?_74028178)_(74068710_?)del
|
|
|
NC_000007.14:g.(?_74035344)_(74068720_?)del
|
|
|
NC_000007.14:g.(?_74068637)_(74068720_?)del
|
|
|
NC_000007.14:g.74043883_74043897del
|
|
|
NM_000501.4(ELN):c.1020C>T (p.Gly340=)
|
rs782012004
|
|
NM_000501.4(ELN):c.1021G>T (p.Val341Phe)
|
rs190758549
|
|
NM_000501.4(ELN):c.1024C>G (p.Pro342Ala)
|
|
|
NM_000501.4(ELN):c.1027G>A (p.Gly343Ser)
|
rs781939749
|
|
NM_000501.4(ELN):c.1028G>A (p.Gly343Asp)
|
|
|
NM_000501.4(ELN):c.1033G>A (p.Gly345Ser)
|
rs2131923109
|
|
NM_000501.4(ELN):c.1034_1087dup (p.Ala362_Ala363insGlyValProGlyAlaGlyIleProValValProGlyAlaGlyIleProGlyAla)
|
|
|
NM_000501.4(ELN):c.1036G>A (p.Val346Ile)
|
|
|
NM_000501.4(ELN):c.1040del (p.Pro347fs)
|
rs1563826213
|
|
NM_000501.4(ELN):c.1041A>T (p.Pro347=)
|
|
|
NM_000501.4(ELN):c.1054C>G (p.Pro352Ala)
|
|
|
NM_000501.4(ELN):c.1073_1087del (p.Gly358_Ala362del)
|
|
|
NM_000501.4(ELN):c.1075_1082dup (p.Ala362fs)
|
rs2131925210
|
|
NM_000501.4(ELN):c.1084G>C (p.Ala362Pro)
|
|
|
NM_000501.4(ELN):c.1086T>C (p.Ala362=)
|
|
|
NM_000501.4(ELN):c.1088C>T (p.Ala363Val)
|
|
|
NM_000501.4(ELN):c.1096+12TG[15]
|
|
|
NM_000501.4(ELN):c.1096+12TG[16]
|
rs10579871
|
|
NM_000501.4(ELN):c.1096+12TG[17]
|
rs10579871
|
|
NM_000501.4(ELN):c.1096+12TG[18]
|
rs10579871
|
|
NM_000501.4(ELN):c.1096+12TG[20]
|
rs10579871
|
|
NM_000501.4(ELN):c.1096+12TG[21]
|
rs10579871
|
|
NM_000501.4(ELN):c.1096+12TG[22]
|
rs10579871
|
|
NM_000501.4(ELN):c.1096+12TG[23]
|
|
|
NM_000501.4(ELN):c.1096+12TG[24]
|
rs10579871
|
|
NM_000501.4(ELN):c.1096+12TG[25]
|
|
|
NM_000501.4(ELN):c.1096+12TG[8]
|
rs10579871
|
|
NM_000501.4(ELN):c.1096+9G>C
|
rs1554677524
|
|
NM_000501.4(ELN):c.1101del (p.Val368fs)
|
rs863223520
|
|
NM_000501.4(ELN):c.1111del (p.Glu371fs)
|
|
|
NM_000501.4(ELN):c.1131T>C (p.Ala377=)
|
|
|
NM_000501.4(ELN):c.1132G>A (p.Ala378Thr)
|
|
|
NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter)
|
rs199621188
|
|
NM_000501.4(ELN):c.114T>C (p.Pro38=)
|
rs782104032
|
|
NM_000501.4(ELN):c.1150+17C>G
|
|
|
NM_000501.4(ELN):c.1167C>T (p.Val389=)
|
|
|
NM_000501.4(ELN):c.1168G>T (p.Gly390Ter)
|
rs372889752
|
|
NM_000501.4(ELN):c.1170A>G (p.Gly390=)
|
rs1060504936
|
|
NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del)
|
rs781838239
|
|
NM_000501.4(ELN):c.117A>T (p.Gly39=)
|
|
|
NM_000501.4(ELN):c.1185T>G (p.Pro395=)
|
|
|
NM_000501.4(ELN):c.1190dup (p.Tyr397Ter)
|
rs1795205877
|
|
NM_000501.4(ELN):c.1191_1199del (p.Tyr397_Gly400delinsTer)
|
rs2132059492
|
|
NM_000501.4(ELN):c.1191del (p.Thr396_Tyr397insTer)
|
|
|
NM_000501.4(ELN):c.1192G>T (p.Gly398Trp)
|
rs2229427
|
|
NM_000501.4(ELN):c.1194G>A (p.Gly398=)
|
|
|
NM_000501.4(ELN):c.1205G>A (p.Gly402Glu)
|
|
|
NM_000501.4(ELN):c.1215C>T (p.Pro405=)
|
|
|
NM_000501.4(ELN):c.1217dup (p.Phe407fs)
|
|
|
NM_000501.4(ELN):c.1227C>A (p.Val409=)
|
|
|
NM_000501.4(ELN):c.1227del (p.Gly410fs)
|
rs1563836689
|
|
NM_000501.4(ELN):c.1237G>A (p.Gly413Ser)
|
|
|
NM_000501.4(ELN):c.1238G>C (p.Gly413Ala)
|
|
|
NM_000501.4(ELN):c.1251C>T (p.Val417=)
|
rs782315685
|
|
NM_000501.4(ELN):c.1252G>C (p.Ala418Pro)
|
rs142438174
|
|
NM_000501.4(ELN):c.1263_1264inv (p.Gly422Ser)
|
|
|
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser)
|
rs2071307
|
|
NM_000501.4(ELN):c.1264G>C (p.Gly422Arg)
|
rs2071307
|
|
NM_000501.4(ELN):c.1269C>G (p.Val423=)
|
rs61734583
|
|
NM_000501.4(ELN):c.1269C>T (p.Val423=)
|
rs61734583
|
|
NM_000501.4(ELN):c.1270G>A (p.Gly424Arg)
|
|
|
NM_000501.4(ELN):c.1274G>A (p.Gly425Asp)
|
rs1795231067
|
|
NM_000501.4(ELN):c.1282G>T (p.Gly428Ter)
|
rs200862792
|
|
NM_000501.4(ELN):c.1283G>C (p.Gly428Ala)
|
rs1795235239
|
|
NM_000501.4(ELN):c.1292G>T (p.Gly431Val)
|
|
|
NM_000501.4(ELN):c.1292del (p.Gly431fs)
|
|
|
NM_000501.4(ELN):c.1298C>T (p.Pro433Leu)
|
|
|
NM_000501.4(ELN):c.1303G>A (p.Val435Ile)
|
|
|
NM_000501.4(ELN):c.1315+17_1315+18delinsTT
|
|
|
NM_000501.4(ELN):c.1315C>T (p.Pro439Ser)
|
|
|
NM_000501.4(ELN):c.1316-13C>T
|
|
|
NM_000501.4(ELN):c.1321G>A (p.Ala441Thr)
|
|
|
NM_000501.4(ELN):c.1324C>G (p.Gln442Glu)
|
|
|
NM_000501.4(ELN):c.1324C>T (p.Gln442Ter)
|
rs137854452
|
|
NM_000501.4(ELN):c.133+10A>G
|
|
|
NM_000501.4(ELN):c.133+16C>A
|
rs144223231
|
|
NM_000501.4(ELN):c.133+16C>T
|
rs144223231
|
|
NM_000501.4(ELN):c.134-19T>C
|
rs535249280
|
|
NM_000501.4(ELN):c.134-5C>A
|
rs202142516
|
|
NM_000501.4(ELN):c.134-5C>G
|
rs202142516
|
|
NM_000501.4(ELN):c.134-5C>T
|
|
|
NM_000501.4(ELN):c.134-5dup
|
|
|
NM_000501.4(ELN):c.134-6C>G
|
rs368904789
|
|
NM_000501.4(ELN):c.134-7C>A
|
rs782721415
|
|
NM_000501.4(ELN):c.134-7C>T
|
|
|
NM_000501.4(ELN):c.134G>C (p.Gly45Ala)
|
|
|
NM_000501.4(ELN):c.1351A>T (p.Lys451Ter)
|
rs2132079396
|
|
NM_000501.4(ELN):c.1356C>T (p.Tyr452=)
|
|
|
NM_000501.4(ELN):c.1358-18T>A
|
|
|
NM_000501.4(ELN):c.1358-191G>A
|
|
|
NM_000501.4(ELN):c.1358-196G>A
|
|
|
NM_000501.4(ELN):c.1358-208G>A
|
|
|
NM_000501.4(ELN):c.1358-216C>A
|
|
|
NM_000501.4(ELN):c.1358-218T>G
|
|
|
NM_000501.4(ELN):c.1358-241G>A
|
rs1554680844
|
|
NM_000501.4(ELN):c.1358-244G>A
|
|
|
NM_000501.4(ELN):c.1358-261G>A
|
|
|
NM_000501.4(ELN):c.1358-262C>T
|
|
|
NM_000501.4(ELN):c.1358-276A>G
|
|
|
NM_000501.4(ELN):c.1358-30_1358-19del
|
|
|
NM_000501.4(ELN):c.1372G>A (p.Ala458Thr)
|
|
|
NM_000501.4(ELN):c.1373C>T (p.Ala458Val)
|
rs149117932
|
|
NM_000501.4(ELN):c.1378G>A (p.Ala460Thr)
|
|
|
NM_000501.4(ELN):c.1383_1394del (p.462AKAA[1])
|
|
|
NM_000501.4(ELN):c.1385C>A (p.Ala462Asp)
|
|
|
NM_000501.4(ELN):c.138T>C (p.Ala46=)
|
|
|
NM_000501.4(ELN):c.1393dup (p.Ala465fs)
|
rs2132135741
|
|
NM_000501.4(ELN):c.1395C>T (p.Ala465=)
|
|
|
NM_000501.4(ELN):c.1396G>A (p.Ala466Thr)
|
|
|
NM_000501.4(ELN):c.1396_1407dup (p.Ala469_Gln470insAlaLysAlaAla)
|
|
|
NM_000501.4(ELN):c.1399A>G (p.Lys467Glu)
|
rs1583924554
|
|
NM_000501.4(ELN):c.1402G>A (p.Ala468Thr)
|
|
|
NM_000501.4(ELN):c.1405G>A (p.Ala469Thr)
|
|
|
NM_000501.4(ELN):c.1407C>A (p.Ala469=)
|
|
|
NM_000501.4(ELN):c.140G>C (p.Gly47Ala)
|
rs1554665826
|
|
NM_000501.4(ELN):c.1414+11C>T
|
|
|
NM_000501.4(ELN):c.1414+11dup
|
rs782491657
|
|
NM_000501.4(ELN):c.1414+16C>T
|
|
|
NM_000501.4(ELN):c.1414+1G>C
|
|
|
NM_000501.4(ELN):c.1414+20G>T
|
|
|
NM_000501.4(ELN):c.1414+9C>T
|
|
|
NM_000501.4(ELN):c.1415-16C>T
|
|
|
NM_000501.4(ELN):c.1431C>T (p.Val477=)
|
rs782141278
|
|
NM_000501.4(ELN):c.1432G>A (p.Gly478Ser)
|
|
|
NM_000501.4(ELN):c.1434_1469del (p.479VAPGVG[1])
|
|
|
NM_000501.4(ELN):c.1446_1463del (p.479VAPGVG[2])
|
rs1563852008
|
|
NM_000501.4(ELN):c.144C>T (p.Leu48=)
|
|
|
NM_000501.4(ELN):c.1451G>A (p.Gly484Asp)
|
|
|
NM_000501.4(ELN):c.1452_1453insA (p.Val485fs)
|
rs2132288547
|
|
NM_000501.4(ELN):c.1453_1488del (p.479VAPGVG[1])
|
rs782202364
|
|
NM_000501.4(ELN):c.1459C>A (p.Pro487Thr)
|
|
|
NM_000501.4(ELN):c.1464_1517del (p.Leu497_Gly514del)
|
rs1563852165
|
|
NM_000501.4(ELN):c.1469G>C (p.Gly490Ala)
|
rs1554682884
|
|
NM_000501.4(ELN):c.1482del (p.Val495fs)
|
rs1583959262
|
|
NM_000501.4(ELN):c.1484T>C (p.Val495Ala)
|
|
|
NM_000501.4(ELN):c.1488_1523del (p.Leu497_Gly508del)
|
rs782284755
|
|
NM_000501.4(ELN):c.14C>G (p.Thr5Arg)
|
|
|
NM_000501.4(ELN):c.1507G>T (p.Val503Leu)
|
rs41523046
|
|
NM_000501.4(ELN):c.1509G>T (p.Val503=)
|
|
|
NM_000501.4(ELN):c.1515_1550del (p.501VGVAPG[1])
|
rs782225994
|
|
NM_000501.4(ELN):c.1518_1535dup (p.Gly518_Ile519insValGlyValAlaProGly)
|
|
|
NM_000501.4(ELN):c.1524T>C (p.Gly508=)
|
|
|
NM_000501.4(ELN):c.1528G>T (p.Ala510Ser)
|
|
|
NM_000501.4(ELN):c.152T>C (p.Leu51Pro)
|
|
|
NM_000501.4(ELN):c.1532C>T (p.Pro511Leu)
|
|
|
NM_000501.4(ELN):c.1536C>T (p.Gly512=)
|
|
|
NM_000501.4(ELN):c.1539del (p.Gly514fs)
|
|
|
NM_000501.4(ELN):c.1542C>T (p.Gly514=)
|
|
|
NM_000501.4(ELN):c.1559G>A (p.Gly520Asp)
|
|
|
NM_000501.4(ELN):c.155G>A (p.Gly52Glu)
|
|
|
NM_000501.4(ELN):c.1564G>C (p.Gly522Arg)
|
|
|
NM_000501.4(ELN):c.1573G>A (p.Ala525Thr)
|
|
|
NM_000501.4(ELN):c.1576+10A>G
|
|
|
NM_000501.4(ELN):c.1576+1G>A
|
rs782674700
|
|
NM_000501.4(ELN):c.1576+2T>A
|
|
|
NM_000501.4(ELN):c.1576+6T>G
|
|
|
NM_000501.4(ELN):c.1576+8T>C
|
|
|
NM_000501.4(ELN):c.1577-9C>G
|
|
|
NM_000501.4(ELN):c.158G>A (p.Gly53Glu)
|
|
|
NM_000501.4(ELN):c.1591G>A (p.Ala531Thr)
|
rs137987089
|
|
NM_000501.4(ELN):c.15G>A (p.Thr5=)
|
|
|
NM_000501.4(ELN):c.1621+11C>T
|
|
|
NM_000501.4(ELN):c.1621+1G>A
|
rs782279081
|
|
NM_000501.4(ELN):c.163+2T>A
|
|
|
NM_000501.4(ELN):c.163+2T>C
|
rs1584494326
|
|
NM_000501.4(ELN):c.163+3G>A
|
|
|
NM_000501.4(ELN):c.1648_1674del (p.Ile550_Gly558del)
|
|
|
NM_000501.4(ELN):c.1654G>T (p.Gly552Ter)
|
|
|
NM_000501.4(ELN):c.1668T>C (p.Gly556=)
|
|
|
NM_000501.4(ELN):c.166del (p.Leu56fs)
|
rs2131266202
|
|
NM_000501.4(ELN):c.1670_1696del (p.Val557_Gly565del)
|
|
|
NM_000501.4(ELN):c.1670_1696dup (p.Gly565_Ala566insValGlyValProGlyLeuGlyValGly)
|
|
|
NM_000501.4(ELN):c.1679del (p.Pro560fs)
|
rs2132320442
|
|
NM_000501.4(ELN):c.1683ACTTGGAGTTGGTGCTGGTGTTCCTGG[1] (p.562LGVGAGVPG[1])
|
rs782739997
|
|
NM_000501.4(ELN):c.1683ACTTGGAGTTGGTGCTGGTGTTCCTGG[3] (p.562LGVGAGVPG[3])
|
rs782739997
|
|
NM_000501.4(ELN):c.1702G>A (p.Val568Ile)
|
rs1554683612
|
|
NM_000501.4(ELN):c.1706del (p.Pro569fs)
|
|
|
NM_000501.4(ELN):c.171del (p.Pro58fs)
|
rs1554666513
|
|
NM_000501.4(ELN):c.1723_1724delinsTG (p.Ala575Cys)
|
|
|
NM_000501.4(ELN):c.1727G>T (p.Gly576Val)
|
|
|
NM_000501.4(ELN):c.1740C>T (p.Phe580=)
|
|
|
NM_000501.4(ELN):c.1741G>A (p.Gly581Arg)
|
|
|
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg)
|
rs17855988
|
|
NM_000501.4(ELN):c.1745C>T (p.Ala582Val)
|
|
|
NM_000501.4(ELN):c.1747+100G>C
|
|
|
NM_000501.4(ELN):c.1747+104A>G
|
|
|
NM_000501.4(ELN):c.1747+105T>C
|
rs536262259
|
|
NM_000501.4(ELN):c.1747+105T>G
|
rs536262259
|
|
NM_000501.4(ELN):c.1747+107G>C
|
|
|
NM_000501.4(ELN):c.1747+15G>C
|
|
|
NM_000501.4(ELN):c.1747+22G>A
|
|
|
NM_000501.4(ELN):c.1747+32C>T
|
|
|
NM_000501.4(ELN):c.1747+56C>T
|
|
|
NM_000501.4(ELN):c.1747+71C>A
|
|
|
NM_000501.4(ELN):c.1747+85C>T
|
|
|
NM_000501.4(ELN):c.1747+86C>T
|
|
|
NM_000501.4(ELN):c.1747+89A>G
|
|
|
NM_000501.4(ELN):c.1747+93C>T
|
|
|
NM_000501.4(ELN):c.1747+98G>A
|
rs2132332281
|
|
NM_000501.4(ELN):c.1748-18A>G
|
|
|
NM_000501.4(ELN):c.1748-20C>T
|
|
|
NM_000501.4(ELN):c.1748-3C>T
|
|
|
NM_000501.4(ELN):c.1758C>T (p.Ala586=)
|
|
|
NM_000501.4(ELN):c.176G>T (p.Gly59Val)
|
|
|
NM_000501.4(ELN):c.1781A>T (p.Lys594Ile)
|
rs782679448
|
|
NM_000501.4(ELN):c.1787-11T>A
|
rs782431386
|
|
NM_000501.4(ELN):c.1787-4G>A
|
|
|
NM_000501.4(ELN):c.1787-6C>T
|
|
|
NM_000501.4(ELN):c.1803G>T (p.Gly601=)
|
|
|
NM_000501.4(ELN):c.1806C>G (p.Val602=)
|
|
|
NM_000501.4(ELN):c.1817del (p.Leu606fs)
|
rs1797063858
|
|
NM_000501.4(ELN):c.1819G>C (p.Gly607Arg)
|
rs781963804
|
|
NM_000501.4(ELN):c.1827C>T (p.Leu609=)
|
|
|
NM_000501.4(ELN):c.1844C>T (p.Pro615Leu)
|
|
|
NM_000501.4(ELN):c.1848C>T (p.Gly616=)
|
|
|
NM_000501.4(ELN):c.1858+16A>G
|
|
|
NM_000501.4(ELN):c.1858G>C (p.Gly620Arg)
|
rs727503034
|
|
NM_000501.4(ELN):c.1858G>T (p.Gly620Ter)
|
rs727503034
|
|
NM_000501.4(ELN):c.1859-7T>C
|
|
|
NM_000501.4(ELN):c.1863C>T (p.Ala621=)
|
|
|
NM_000501.4(ELN):c.1870G>A (p.Ala624Thr)
|
|
|
NM_000501.4(ELN):c.1878_1879insAAAGCTTTG (p.Ala626_Ala627insLysAlaLeu)
|
rs1563868747
|
|
NM_000501.4(ELN):c.1881T>A (p.Ala627=)
|
|
|
NM_000501.4(ELN):c.1884_1886del (p.Ala630del)
|
|
|
NM_000501.4(ELN):c.1885_1902dup (p.Ala629_Ala634dup)
|
rs1337161292
|
|
NM_000501.4(ELN):c.1891A>G (p.Lys631Glu)
|
|
|
NM_000501.4(ELN):c.1894G>T (p.Ala632Ser)
|
|
|
NM_000501.4(ELN):c.18G>C (p.Ala6=)
|
|
|
NM_000501.4(ELN):c.1919-1G>A
|
rs1797218441
|
|
NM_000501.4(ELN):c.1921C>G (p.Leu641Val)
|
|
|
NM_000501.4(ELN):c.192G>A (p.Lys64=)
|
|
|
NM_000501.4(ELN):c.192del (p.Lys64fs)
|
|
|
NM_000501.4(ELN):c.1941C>T (p.Leu647=)
|
|
|
NM_000501.4(ELN):c.1946G>A (p.Gly649Glu)
|
rs200041224
|
|
NM_000501.4(ELN):c.1946G>C (p.Gly649Ala)
|
rs200041224
|
|
NM_000501.4(ELN):c.1946_1954dup (p.646GLG[3])
|
rs374813147
|
|
NM_000501.4(ELN):c.1956_1970del (p.648GGLGV[1])
|
rs782015142
|
|
NM_000501.4(ELN):c.1957G>A (p.Gly653Arg)
|
|
|
NM_000501.4(ELN):c.196+10A>C
|
|
|
NM_000501.4(ELN):c.196+17C>G
|
|
|
NM_000501.4(ELN):c.196+17C>T
|
|
|
NM_000501.4(ELN):c.196+5G>A
|
|
|
NM_000501.4(ELN):c.1961G>A (p.Gly654Glu)
|
|
|
NM_000501.4(ELN):c.197-9T>C
|
|
|
NM_000501.4(ELN):c.1973del (p.Pro658fs)
|
|
|
NM_000501.4(ELN):c.197T>C (p.Val66Ala)
|
|
|
NM_000501.4(ELN):c.1985G>C (p.Gly662Ala)
|
|
|
NM_000501.4(ELN):c.1993+4A>G
|
rs781872334
|
|
NM_000501.4(ELN):c.1993+7G>C
|
|
|
NM_000501.4(ELN):c.1994-18T>C
|
|
|
NM_000501.4(ELN):c.1994-6C>T
|
|
|
NM_000501.4(ELN):c.1A>G (p.Met1Val)
|
|
|
NM_000501.4(ELN):c.2014G>A (p.Ala672Thr)
|
|
|
NM_000501.4(ELN):c.2031C>T (p.Tyr677=)
|
|
|
NM_000501.4(ELN):c.2033-11C>T
|
|
|
NM_000501.4(ELN):c.2033-1G>C
|
|
|
NM_000501.4(ELN):c.2033G>A (p.Gly678Asp)
|
rs371321792
|
|
NM_000501.4(ELN):c.205G>C (p.Gly69Arg)
|
|
|
NM_000501.4(ELN):c.2068G>A (p.Gly690Arg)
|
|
|
NM_000501.4(ELN):c.207G>T (p.Gly69=)
|
|
|
NM_000501.4(ELN):c.2086+12C>A
|
rs2132668936
|
|
NM_000501.4(ELN):c.2086+13A>G
|
|
|
NM_000501.4(ELN):c.2086+15C>T
|
|
|
NM_000501.4(ELN):c.2086+4G>A
|
|
|
NM_000501.4(ELN):c.2087-4G>A
|
|
|
NM_000501.4(ELN):c.2089G>A (p.Val697Met)
|
|
|
NM_000501.4(ELN):c.208C>T (p.Leu70Phe)
|
|
|
NM_000501.4(ELN):c.2104G>C (p.Gly702Arg)
|
|
|
NM_000501.4(ELN):c.2106C>A (p.Gly702=)
|
|
|
NM_000501.4(ELN):c.2109C>G (p.Phe703Leu)
|
rs149755814
|
|
NM_000501.4(ELN):c.2114T>C (p.Leu705Ser)
|
|
|
NM_000501.4(ELN):c.2124T>C (p.Ile708=)
|
|
|
NM_000501.4(ELN):c.2128C>G (p.Pro710Ala)
|
rs368993919
|
|
NM_000501.4(ELN):c.2131+10G>A
|
|
|
NM_000501.4(ELN):c.2131+1G>A
|
|
|
NM_000501.4(ELN):c.2132-2A>G
|
|
|
NM_000501.4(ELN):c.2148G>C (p.Gly716=)
|
rs782642175
|
|
NM_000501.4(ELN):c.2154T>C (p.Ala718=)
|
|
|
NM_000501.4(ELN):c.215G>T (p.Gly72Val)
|
|
|
NM_000501.4(ELN):c.2161C>A (p.Arg721=)
|
|
|
NM_000501.4(ELN):c.2162G>A (p.Arg721Gln)
|
|
|
NM_000501.4(ELN):c.232+14C>G
|
|
|
NM_000501.4(ELN):c.232G>A (p.Gly78Arg)
|
|
|
NM_000501.4(ELN):c.233-9C>T
|
|
|
NM_000501.4(ELN):c.238G>A (p.Gly80Ser)
|
|
|
NM_000501.4(ELN):c.250G>A (p.Ala84Thr)
|
|
|
NM_000501.4(ELN):c.250G>T (p.Ala84Ser)
|
|
|
NM_000501.4(ELN):c.263C>T (p.Pro88Leu)
|
|
|
NM_000501.4(ELN):c.26C>T (p.Pro9Leu)
|
|
|
NM_000501.4(ELN):c.278del (p.Pro93fs)
|
rs1791508570
|
|
NM_000501.4(ELN):c.294C>T (p.Asp98=)
|
|
|
NM_000501.4(ELN):c.295_296del (p.Ala99fs)
|
rs1554669297
|
|
NM_000501.4(ELN):c.2T>C (p.Met1Thr)
|
rs863223518
|
|
NM_000501.4(ELN):c.305C>G (p.Ala102Gly)
|
|
|
NM_000501.4(ELN):c.326-16T>C
|
|
|
NM_000501.4(ELN):c.326-1G>T
|
|
|
NM_000501.4(ELN):c.327C>T (p.Gly109=)
|
|
|
NM_000501.4(ELN):c.328G>A (p.Ala110Thr)
|
rs137953195
|
|
NM_000501.4(ELN):c.328G>T (p.Ala110Ser)
|
rs137953195
|
|
NM_000501.4(ELN):c.334C>T (p.Leu112Phe)
|
|
|
NM_000501.4(ELN):c.338G>A (p.Gly113Asp)
|
rs531401757
|
|
NM_000501.4(ELN):c.33C>T (p.Pro11=)
|
|
|
NM_000501.4(ELN):c.348del (p.Gly117fs)
|
rs2131453910
|
|
NM_000501.4(ELN):c.364G>T (p.Gly122Ter)
|
|
|
NM_000501.4(ELN):c.369G>A (p.Val123=)
|
|
|
NM_000501.4(ELN):c.376+18G>A
|
|
|
NM_000501.4(ELN):c.376+4C>T
|
|
|
NM_000501.4(ELN):c.376+5G>A
|
rs782770862
|
|
NM_000501.4(ELN):c.377-14C>T
|
|
|
NM_000501.4(ELN):c.377-16G>A
|
|
|
NM_000501.4(ELN):c.377-1G>T
|
rs1554669774
|
|
NM_000501.4(ELN):c.377-2A>G
|
|
|
NM_000501.4(ELN):c.383del (p.Val128fs)
|
rs1554669800
|
|
NM_000501.4(ELN):c.384G>T (p.Val128=)
|
|
|
NM_000501.4(ELN):c.391C>T (p.Gln131Ter)
|
rs1791626037
|
|
NM_000501.4(ELN):c.402C>T (p.Ala134=)
|
|
|
NM_000501.4(ELN):c.414dup (p.Gly139fs)
|
rs1791633917
|
|
NM_000501.4(ELN):c.417del (p.Val141fs)
|
rs878854452
|
|
NM_000501.4(ELN):c.425C>A (p.Pro142Gln)
|
rs1013508230
|
|
NM_000501.4(ELN):c.426G>A (p.Pro142=)
|
|
|
NM_000501.4(ELN):c.427+11A>G
|
|
|
NM_000501.4(ELN):c.427+4A>G
|
|
|
NM_000501.4(ELN):c.427+8C>A
|
|
|
NM_000501.4(ELN):c.428-10T>C
|
|
|
NM_000501.4(ELN):c.429T>C (p.Gly143=)
|
|
|
NM_000501.4(ELN):c.435G>T (p.Gly145=)
|
|
|
NM_000501.4(ELN):c.441A>C (p.Pro147=)
|
|
|
NM_000501.4(ELN):c.446_457del (p.Val149_Gly152del)
|
rs1227487686
|
|
NM_000501.4(ELN):c.450C>A (p.Tyr150Ter)
|
rs137854454
|
|
NM_000501.4(ELN):c.450C>G (p.Tyr150Ter)
|
rs137854454
|
|
NM_000501.4(ELN):c.45G>A (p.Leu15=)
|
rs1787872217
|
|
NM_000501.4(ELN):c.469+3G>A
|
|
|
NM_000501.4(ELN):c.469+5G>C
|
rs727503025
|
|
NM_000501.4(ELN):c.469G>C (p.Gly157Arg)
|
rs1791850438
|
|
NM_000501.4(ELN):c.470-10C>T
|
rs200663056
|
|
NM_000501.4(ELN):c.470-37_470del
|
rs1563793627
|
|
NM_000501.4(ELN):c.470-6C>T
|
|
|
NM_000501.4(ELN):c.482C>T (p.Pro161Leu)
|
|
|
NM_000501.4(ELN):c.483C>A (p.Pro161=)
|
rs150690195
|
|
NM_000501.4(ELN):c.484G>A (p.Gly162Ser)
|
|
|
NM_000501.4(ELN):c.48C>G (p.Leu16=)
|
|
|
NM_000501.4(ELN):c.53T>G (p.Leu18Arg)
|
|
|
NM_000501.4(ELN):c.541+14T>C
|
|
|
NM_000501.4(ELN):c.542-10A>G
|
|
|
NM_000501.4(ELN):c.542-1G>C
|
|
|
NM_000501.4(ELN):c.542-2A>T
|
rs782528759
|
|
NM_000501.4(ELN):c.548G>A (p.Gly183Asp)
|
|
|
NM_000501.4(ELN):c.554_555delinsA (p.Ala185fs)
|
|
|
NM_000501.4(ELN):c.559G>A (p.Ala187Thr)
|
|
|
NM_000501.4(ELN):c.572-19G>A
|
|
|
NM_000501.4(ELN):c.581C>A (p.Pro194His)
|
|
|
NM_000501.4(ELN):c.585T>C (p.Phe195=)
|
|
|
NM_000501.4(ELN):c.590G>A (p.Gly197Glu)
|
rs782698807
|
|
NM_000501.4(ELN):c.592C>T (p.Pro198Ser)
|
|
|
NM_000501.4(ELN):c.594G>A (p.Pro198=)
|
rs140337204
|
|
NM_000501.4(ELN):c.594G>T (p.Pro198=)
|
rs140337204
|
|
NM_000501.4(ELN):c.5C>T (p.Ala2Val)
|
|
|
NM_000501.4(ELN):c.602G>C (p.Gly201Ala)
|
rs1792623793
|
|
NM_000501.4(ELN):c.609del (p.Leu204fs)
|
|
|
NM_000501.4(ELN):c.611del (p.Leu204fs)
|
|
|
NM_000501.4(ELN):c.61C>T (p.Leu21Phe)
|
|
|
NM_000501.4(ELN):c.635A>G (p.Lys212Arg)
|
|
|
NM_000501.4(ELN):c.643+15C>T
|
|
|
NM_000501.4(ELN):c.643+1_643+2delinsAG
|
rs1554672602
|
|
NM_000501.4(ELN):c.644-13G>T
|
rs2131638108
|
|
NM_000501.4(ELN):c.644-17CT[4]
|
|
|
NM_000501.4(ELN):c.644-6C>T
|
|
|
NM_000501.4(ELN):c.644G>A (p.Gly215Asp)
|
|
|
NM_000501.4(ELN):c.65_69dup (p.Ser24fs)
|
rs1787875866
|
|
NM_000501.4(ELN):c.660del (p.Tyr221fs)
|
|
|
NM_000501.4(ELN):c.662dup (p.Tyr221Ter)
|
|
|
NM_000501.4(ELN):c.671G>A (p.Gly224Glu)
|
|
|
NM_000501.4(ELN):c.677T>G (p.Leu226Arg)
|
|
|
NM_000501.4(ELN):c.685+11C>A
|
|
|
NM_000501.4(ELN):c.685+18A>G
|
|
|
NM_000501.4(ELN):c.686-18A>G
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NM_000501.4(ELN):c.686-1G>A
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rs1583818183
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NM_000501.4(ELN):c.690T>A (p.Tyr230Ter)
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rs1400530335
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NM_000501.4(ELN):c.691G>A (p.Gly231Arg)
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NM_000501.4(ELN):c.69C>T (p.Pro23=)
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NM_000501.4(ELN):c.69del (p.Ser24fs)
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NM_000501.4(ELN):c.6G>C (p.Ala2=)
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NM_000501.4(ELN):c.705G>A (p.Val235=)
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NM_000501.4(ELN):c.726T>C (p.Ala242=)
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NM_000501.4(ELN):c.741G>T (p.Gly247=)
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NM_000501.4(ELN):c.745+16C>T
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NM_000501.4(ELN):c.746-2A>T
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NM_000501.4(ELN):c.746-7C>T
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NM_000501.4(ELN):c.74G>A (p.Arg25Gln)
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NM_000501.4(ELN):c.762AGC[3] (p.Ala260del)
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NM_000501.4(ELN):c.762AGC[5] (p.Ala260dup)
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rs782185396
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NM_000501.4(ELN):c.763G>A (p.Ala255Thr)
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NM_000501.4(ELN):c.775del (p.Ala259fs)
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NM_000501.4(ELN):c.786A>T (p.Ala262=)
|
rs782342976
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NM_000501.4(ELN):c.786del (p.Ala263fs)
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NM_000501.4(ELN):c.799+6T>A
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NM_000501.4(ELN):c.79G>A (p.Gly27Arg)
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NM_000501.4(ELN):c.800-2A>G
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rs727503027
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NM_000501.4(ELN):c.800-3C>G
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rs397516433
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NM_000501.4(ELN):c.809_817del (p.Ala270_Gly272del)
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NM_000501.4(ELN):c.813C>T (p.Ala271=)
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NM_000501.4(ELN):c.814G>A (p.Gly272Arg)
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NM_000501.4(ELN):c.82+13C>T
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NM_000501.4(ELN):c.82+14G>A
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NM_000501.4(ELN):c.82+1G>A
|
rs2130830261
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NM_000501.4(ELN):c.82+1G>C
|
rs2130830261
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NM_000501.4(ELN):c.83-18C>T
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NM_000501.4(ELN):c.83-20C>T
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NM_000501.4(ELN):c.840_843dup (p.Val282fs)
|
rs1794096639
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NM_000501.4(ELN):c.851G>A (p.Gly284Asp)
|
rs1287098263
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NM_000501.4(ELN):c.851G>C (p.Gly284Ala)
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NM_000501.4(ELN):c.858T>A (p.Pro286=)
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NM_000501.4(ELN):c.863C>T (p.Ala288Val)
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NM_000501.4(ELN):c.869del (p.Pro290fs)
|
rs1794104889
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NM_000501.4(ELN):c.87C>T (p.Val29=)
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NM_000501.4(ELN):c.885del (p.Ile295fs)
|
rs1794108907
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NM_000501.4(ELN):c.889+16G>A
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|
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NM_000501.4(ELN):c.889+1G>C
|
rs782238674
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NM_000501.4(ELN):c.889+20G>T
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NM_000501.4(ELN):c.889+6A>G
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NM_000501.4(ELN):c.889G>A (p.Gly297Ser)
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NM_000501.4(ELN):c.889G>T (p.Gly297Cys)
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NM_000501.4(ELN):c.890-14G>A
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NM_000501.4(ELN):c.891C>T (p.Gly297=)
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NM_000501.4(ELN):c.8del (p.Gly3fs)
|
rs2130826217
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NM_000501.4(ELN):c.906TGCAGC[1] (p.Ala308_Ala311del)
|
rs782133793
|
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NM_000501.4(ELN):c.906TGCAGC[4] (p.Ala311_Lys312insAlaAla)
|
|
|
NM_000501.4(ELN):c.909_916del (p.Ala304fs)
|
rs2131856285
|
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NM_000501.4(ELN):c.911C>G (p.Ala304Gly)
|
|
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NM_000501.4(ELN):c.913G>A (p.Ala305Thr)
|
rs1060503513
|
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NM_000501.4(ELN):c.917C>T (p.Ala306Val)
|
|
|
NM_000501.4(ELN):c.924A>T (p.Ala308=)
|
rs539451717
|
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NM_000501.4(ELN):c.930C>G (p.Ala310=)
|
|
|
NM_000501.4(ELN):c.944A>G (p.Lys315Arg)
|
rs1554676454
|
|
NM_000501.4(ELN):c.948T>A (p.Tyr316Ter)
|
rs2131858633
|
|
NM_000501.4(ELN):c.949+11C>T
|
|
|
NM_000501.4(ELN):c.949+13C>G
|
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|
NM_000501.4(ELN):c.949+5G>A
|
|
|
NM_000501.4(ELN):c.949+6T>C
|
rs1794154462
|
|
NM_000501.4(ELN):c.949+8_949+19del
|
|
|
NM_000501.4(ELN):c.949+9C>T
|
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|
NM_000501.4(ELN):c.94del (p.Ala32fs)
|
|
|
NM_000501.4(ELN):c.96del (p.Ile33fs)
|
rs2131151265
|
|
NM_000501.4(ELN):c.993G>A (p.Pro331=)
|
rs371757750
|
|
NM_001278939.1(ELN):c.748del
|
rs1793092853
|
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