NM_015443.4(KANSL1):c.-90+8C>T
|
rs72836333
|
0.35522
|
NM_015443.4(KANSL1):c.2837+175C>T
|
rs7350980
|
0.23567
|
NM_015443.4(KANSL1):c.2724+99G>C
|
rs4597358
|
0.23538
|
NM_015443.4(KANSL1):c.2203+118A>C
|
rs7221390
|
0.23532
|
NM_015443.4(KANSL1):c.1011C>G (p.Ser337=)
|
rs2240758
|
0.14928
|
NM_015443.4(KANSL1):c.741A>G (p.Arg247=)
|
rs1881193
|
0.14687
|
NM_015443.4(KANSL1):c.-89-202C>T
|
rs2532270
|
0.14596
|
NM_015443.4(KANSL1):c.-90+130T>A
|
rs2696633
|
0.14591
|
NC_000017.11:g.46225515C>T
|
rs2532404
|
0.14583
|
NM_015443.4(KANSL1):c.-90+643G>A
|
rs2732596
|
0.14582
|
NM_015443.4(KANSL1):c.1289+179C>T
|
rs2532271
|
0.14582
|
NM_015443.4(KANSL1):c.-90+225A>T
|
rs11079733
|
0.14581
|
NM_015443.4(KANSL1):c.696C>T (p.Ser232=)
|
rs1881194
|
0.14580
|
NM_015443.4(KANSL1):c.-89-23T>C
|
rs2696662
|
0.14571
|
NM_015443.4(KANSL1):c.1432-80C>T
|
rs17576200
|
0.14483
|
NM_015443.4(KANSL1):c.2392+81A>G
|
rs62062136
|
0.14482
|
NM_015443.4(KANSL1):c.2541+174C>T
|
rs12150542
|
0.14480
|
NM_015443.4(KANSL1):c.1533+252G>T
|
rs77138434
|
0.14477
|
NM_015443.4(KANSL1):c.1652+281C>T
|
rs17659731
|
0.14477
|
NM_015443.4(KANSL1):c.1653-54A>G
|
rs62060798
|
0.14476
|
NM_015443.4(KANSL1):c.2021-147T>C
|
rs10514897
|
0.14473
|
NM_015443.4(KANSL1):c.1533+112G>A
|
rs77925835
|
0.14472
|
NM_015443.4(KANSL1):c.1653-153C>A
|
rs62060799
|
0.14472
|
NM_015443.4(KANSL1):c.1533+176A>C
|
rs111913701
|
0.14471
|
NM_015443.4(KANSL1):c.1653-289G>T
|
rs17575850
|
0.14471
|
NM_015443.4(KANSL1):c.2152T>C (p.Ser718Pro)
|
rs34043286
|
0.14471
|
NM_015443.4(KANSL1):c.2667-283T>C
|
rs62062321
|
0.14471
|
NM_015443.4(KANSL1):c.3090+165C>T
|
rs55881134
|
0.14471
|
NM_015443.4(KANSL1):c.2580T>C (p.Phe860=)
|
rs17574604
|
0.14470
|
NM_015443.4(KANSL1):c.2838-104G>C
|
rs1076222
|
0.14470
|
NM_015443.4(KANSL1):c.1653-247T>C
|
rs17575822
|
0.14469
|
NM_015443.4(KANSL1):c.1533+82G>A
|
rs17659953
|
0.14468
|
NM_015443.4(KANSL1):c.2542-176G>T
|
rs17653162
|
0.14465
|
NM_015443.4(KANSL1):c.2392+155C>T
|
rs41437445
|
0.14464
|
NM_015443.4(KANSL1):c.2667-62T>A
|
rs77009866
|
0.14464
|
NM_015443.4(KANSL1):c.1290-260A>T
|
rs17576695
|
0.14399
|
NM_015443.4(KANSL1):c.1290-324G>A
|
rs80020809
|
0.14397
|
NM_015443.4(KANSL1):c.1432-142C>T
|
rs62060852
|
0.14356
|
NM_015443.4(KANSL1):c.2838-178T>C
|
rs1078997
|
0.13903
|
NM_015443.4(KANSL1):c.1431+169C>T
|
rs72628324
|
0.13479
|
NC_000017.11:g.46225538T>C
|
rs2532403
|
0.13131
|
NC_000017.11:g.46225386G>A
|
rs2907488
|
0.12987
|
NM_001193465.2(KANSL1):c.-223-161A>G
|
rs386320
|
0.12987
|
NM_015443.4(KANSL1):c.1534-340A>G
|
rs75641221
|
0.12617
|
NM_015443.4(KANSL1):c.3091-119G>C
|
rs17574425
|
0.12591
|
NM_015443.4(KANSL1):c.1533+135T>C
|
rs111519055
|
0.12569
|
NM_015443.4(KANSL1):c.-90+463C>T
|
rs2696635
|
0.12476
|
NM_015443.4(KANSL1):c.-90+267A>G
|
rs62060947
|
0.11661
|
NM_015443.4(KANSL1):c.311A>C (p.Lys104Thr)
|
rs17585974
|
0.11620
|
NM_015443.4(KANSL1):c.414T>G (p.Leu138=)
|
rs17662889
|
0.11611
|
NM_015443.4(KANSL1):c.673A>G (p.Asn225Asp)
|
rs35643216
|
0.11593
|
NM_015443.4(KANSL1):c.662C>T (p.Thr221Ile)
|
rs17662853
|
0.10907
|
NM_015443.4(KANSL1):c.1533+101G>C
|
rs16940874
|
0.05961
|
NM_015443.4(KANSL1):c.2542-308G>A
|
rs16940834
|
0.04772
|
NM_015443.4(KANSL1):c.1653-116A>G
|
rs2301732
|
0.04679
|
NM_015443.4(KANSL1):c.2136G>A (p.Pro712=)
|
rs2277613
|
0.04041
|
NM_015443.4(KANSL1):c.1653-136A>G
|
rs117385703
|
0.03387
|
NM_015443.4(KANSL1):c.2667-204G>T
|
rs73317042
|
0.03264
|
NM_015443.4(KANSL1):c.-89-240G>A
|
rs9911018
|
0.03130
|
NM_001193465.2(KANSL1):c.-223-43G>A
|
rs541170077
|
0.02801
|
NC_000017.11:g.46225481G>C
|
rs73984702
|
0.02120
|
NM_015443.4(KANSL1):c.-89-337A>G
|
rs10083827
|
0.01200
|
NM_015443.4(KANSL1):c.1432-140G>T
|
rs115646678
|
0.01108
|
NM_015443.4(KANSL1):c.2109A>G (p.Leu703=)
|
rs34101027
|
0.00967
|
NM_015443.4(KANSL1):c.1533+161G>A
|
rs117475340
|
0.00944
|
NM_015443.4(KANSL1):c.1849-283A>G
|
rs147080346
|
0.00822
|
NM_015443.4(KANSL1):c.1653-177A>G
|
rs111288789
|
0.00805
|
NM_015443.4(KANSL1):c.2203+75G>A
|
rs150150664
|
0.00640
|
NM_015443.4(KANSL1):c.-89-303A>G
|
rs12451674
|
0.00546
|
NM_015443.4(KANSL1):c.*954C>G
|
rs150500194
|
0.00393
|
NM_015443.4(KANSL1):c.773T>C (p.Leu258Ser)
|
rs145714368
|
0.00328
|
NM_015443.4(KANSL1):c.1289+18A>G
|
rs150225895
|
0.00275
|
NM_015443.4(KANSL1):c.3091-18C>G
|
rs186216018
|
0.00195
|
NM_015443.4(KANSL1):c.727C>A (p.Gln243Lys)
|
rs142096969
|
0.00174
|
NM_015443.4(KANSL1):c.1653-10C>G
|
rs199642265
|
0.00170
|
NM_015443.4(KANSL1):c.297A>G (p.Gln99=)
|
rs34801822
|
0.00164
|
NM_015443.4(KANSL1):c.1826G>A (p.Ser609Asn)
|
rs138698439
|
0.00157
|
NM_015443.4(KANSL1):c.607G>C (p.Gly203Arg)
|
rs138175526
|
0.00156
|
NM_015443.4(KANSL1):c.2718T>G (p.Asn906Lys)
|
rs139615350
|
0.00125
|
NM_015443.4(KANSL1):c.1574C>G (p.Pro525Arg)
|
rs144838667
|
0.00108
|
NM_015443.4(KANSL1):c.1116A>G (p.Lys372=)
|
rs62639965
|
0.00107
|
NM_015443.4(KANSL1):c.2838-52C>T
|
rs367992334
|
0.00102
|
NM_015443.4(KANSL1):c.2949C>T (p.Tyr983=)
|
rs146848167
|
0.00091
|
NM_015443.4(KANSL1):c.1738G>A (p.Val580Ile)
|
rs117412152
|
0.00087
|
NM_015443.4(KANSL1):c.2628C>T (p.Arg876=)
|
rs149756887
|
0.00087
|
NM_015443.4(KANSL1):c.800A>G (p.Lys267Arg)
|
rs140181991
|
0.00080
|
NM_015443.4(KANSL1):c.3091-35A>G
|
rs113277369
|
0.00078
|
NM_015443.4(KANSL1):c.1938C>T (p.Pro646=)
|
rs371047711
|
0.00070
|
NM_015443.4(KANSL1):c.1432-28T>C
|
rs199769644
|
0.00068
|
NM_015443.4(KANSL1):c.688A>G (p.Asn230Asp)
|
rs34756740
|
0.00053
|
NM_015443.4(KANSL1):c.1285C>A (p.Pro429Thr)
|
rs142062936
|
0.00049
|
NM_015443.4(KANSL1):c.1689C>T (p.Asp563=)
|
rs113557856
|
0.00044
|
NM_015443.4(KANSL1):c.2481C>T (p.Ser827=)
|
rs143653891
|
0.00044
|
NM_015443.4(KANSL1):c.571G>T (p.Gly191Cys)
|
rs149566146
|
0.00042
|
NM_015443.4(KANSL1):c.635A>G (p.His212Arg)
|
rs141110759
|
0.00038
|
NM_015443.4(KANSL1):c.3170A>G (p.Gln1057Arg)
|
rs201083879
|
0.00037
|
NM_015443.4(KANSL1):c.2294C>T (p.Ala765Val)
|
rs151099014
|
0.00036
|
NM_015443.4(KANSL1):c.1653-11C>T
|
rs201471275
|
0.00035
|
NM_015443.4(KANSL1):c.-90+397G>T
|
rs566057890
|
0.00034
|
NM_015443.4(KANSL1):c.2698G>A (p.Gly900Arg)
|
rs74867664
|
0.00032
|
NM_015443.4(KANSL1):c.1654C>A (p.Leu552Ile)
|
rs144337302
|
0.00031
|
NM_015443.4(KANSL1):c.3090+43A>G
|
rs201824489
|
0.00030
|
NM_015443.4(KANSL1):c.*17T>A
|
rs567243937
|
0.00029
|
NM_015443.4(KANSL1):c.2666+49C>T
|
rs377022646
|
0.00029
|
NM_015443.4(KANSL1):c.2159G>A (p.Arg720His)
|
rs148825937
|
0.00026
|
NM_015443.4(KANSL1):c.2666+29C>A
|
rs138919178
|
0.00024
|
NM_015443.4(KANSL1):c.2725-7A>G
|
rs186818985
|
0.00024
|
NM_015443.4(KANSL1):c.286T>C (p.Leu96=)
|
rs140268765
|
0.00024
|
NM_015443.4(KANSL1):c.1124C>T (p.Ser375Leu)
|
rs142696045
|
0.00022
|
NM_015443.4(KANSL1):c.-35C>T
|
rs200079769
|
0.00021
|
NM_015443.4(KANSL1):c.525C>T (p.Ser175=)
|
rs148321376
|
0.00021
|
NM_015443.4(KANSL1):c.620A>G (p.Asn207Ser)
|
rs144882998
|
0.00019
|
NM_015443.4(KANSL1):c.949A>G (p.Ile317Val)
|
rs139843442
|
0.00016
|
NM_015443.4(KANSL1):c.122A>G (p.Asn41Ser)
|
rs142587760
|
0.00015
|
NM_015443.4(KANSL1):c.2110T>C (p.Ser704Pro)
|
rs202231419
|
0.00015
|
NM_015443.4(KANSL1):c.1187A>T (p.Gln396Leu)
|
rs149302199
|
0.00014
|
NM_015443.4(KANSL1):c.498A>C (p.Thr166=)
|
rs141491325
|
0.00014
|
NM_015443.4(KANSL1):c.719C>T (p.Pro240Leu)
|
rs767565501
|
0.00012
|
NM_015443.4(KANSL1):c.477G>T (p.Lys159Asn)
|
rs188294801
|
0.00011
|
NM_015443.4(KANSL1):c.701T>C (p.Val234Ala)
|
rs199948200
|
0.00011
|
NM_015443.4(KANSL1):c.849G>A (p.Arg283=)
|
rs754362361
|
0.00011
|
NM_015443.4(KANSL1):c.1261G>A (p.Ala421Thr)
|
rs150115249
|
0.00010
|
NM_015443.4(KANSL1):c.3146A>G (p.Glu1049Gly)
|
rs771796347
|
0.00010
|
NM_015443.4(KANSL1):c.862C>T (p.Leu288=)
|
rs144805634
|
0.00010
|
NM_015443.4(KANSL1):c.1189G>A (p.Ala397Thr)
|
rs138565467
|
0.00009
|
NM_015443.4(KANSL1):c.1667T>G (p.Leu556Trp)
|
rs200449833
|
0.00009
|
NM_015443.4(KANSL1):c.30C>T (p.Asp10=)
|
rs200649587
|
0.00009
|
NM_015443.4(KANSL1):c.1128T>A (p.Ile376=)
|
rs148054472
|
0.00008
|
NM_015443.4(KANSL1):c.1180A>G (p.Ser394Gly)
|
rs751709708
|
0.00008
|
NM_015443.4(KANSL1):c.1652+8T>G
|
rs587771660
|
0.00008
|
NM_015443.4(KANSL1):c.2837+14C>T
|
rs770089639
|
0.00008
|
NM_015443.4(KANSL1):c.3091-10C>T
|
rs199901217
|
0.00008
|
NM_015443.4(KANSL1):c.3264C>T (p.Leu1088=)
|
rs370904425
|
0.00008
|
NM_015443.4(KANSL1):c.805C>T (p.Pro269Ser)
|
rs200903841
|
0.00008
|
NM_015443.4(KANSL1):c.1157G>T (p.Ser386Ile)
|
rs143589497
|
0.00007
|
NM_015443.4(KANSL1):c.12G>A (p.Met4Ile)
|
rs146472353
|
0.00007
|
NM_015443.4(KANSL1):c.1653-6G>A
|
rs369261388
|
0.00007
|
NM_015443.4(KANSL1):c.2441C>G (p.Thr814Ser)
|
rs757031050
|
0.00007
|
NM_015443.4(KANSL1):c.2755G>A (p.Ala919Thr)
|
rs776547113
|
0.00007
|
NM_015443.4(KANSL1):c.3091-15C>A
|
rs565665710
|
0.00007
|
NM_015443.4(KANSL1):c.442G>A (p.Ala148Thr)
|
rs140089320
|
0.00007
|
NM_015443.4(KANSL1):c.619A>G (p.Asn207Asp)
|
rs372601814
|
0.00007
|
NM_015443.4(KANSL1):c.1000A>G (p.Asn334Asp)
|
rs112150341
|
0.00006
|
NM_015443.4(KANSL1):c.1277G>A (p.Arg426His)
|
rs764291274
|
0.00006
|
NM_015443.4(KANSL1):c.1343G>A (p.Arg448His)
|
rs760727599
|
0.00006
|
NM_015443.4(KANSL1):c.1527T>G (p.Asp509Glu)
|
rs527948436
|
0.00006
|
NM_015443.4(KANSL1):c.1751C>T (p.Ser584Phe)
|
rs544459109
|
0.00006
|
NM_015443.4(KANSL1):c.2128C>A (p.Pro710Thr)
|
rs550137256
|
0.00006
|
NM_015443.4(KANSL1):c.2230G>C (p.Asp744His)
|
rs200103894
|
0.00006
|
NM_015443.4(KANSL1):c.2538A>G (p.Thr846=)
|
rs148718200
|
0.00006
|
NM_015443.4(KANSL1):c.296A>G (p.Gln99Arg)
|
rs754727332
|
0.00006
|
NM_015443.4(KANSL1):c.3053C>T (p.Thr1018Ile)
|
rs145863194
|
0.00006
|
NM_015443.4(KANSL1):c.3306G>A (p.Pro1102=)
|
rs143746890
|
0.00006
|
NM_015443.4(KANSL1):c.353A>G (p.Tyr118Cys)
|
rs781582912
|
0.00006
|
NM_015443.4(KANSL1):c.518C>T (p.Ser173Phe)
|
rs750012482
|
0.00006
|
NM_015443.4(KANSL1):c.729A>G (p.Gln243=)
|
rs775976415
|
0.00006
|
NM_015443.4(KANSL1):c.736A>G (p.Ser246Gly)
|
rs141969887
|
0.00006
|
NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter)
|
rs149830411
|
0.00006
|
NM_015443.4(KANSL1):c.1057G>A (p.Ala353Thr)
|
rs1466777621
|
0.00005
|
NM_015443.4(KANSL1):c.1276C>T (p.Arg426Cys)
|
rs757224600
|
0.00005
|
NM_015443.4(KANSL1):c.1864A>G (p.Thr622Ala)
|
rs567178302
|
0.00005
|
NM_015443.4(KANSL1):c.2135C>T (p.Pro712Leu)
|
rs549189483
|
0.00005
|
NM_015443.4(KANSL1):c.2190C>T (p.Phe730=)
|
rs145434865
|
0.00005
|
NM_015443.4(KANSL1):c.531T>C (p.Asn177=)
|
rs759846708
|
0.00005
|
NM_015443.4(KANSL1):c.889C>T (p.Arg297Cys)
|
rs772236084
|
0.00005
|
NM_015443.4(KANSL1):c.896G>A (p.Arg299His)
|
rs201785695
|
0.00005
|
NM_015443.4(KANSL1):c.992A>G (p.Lys331Arg)
|
rs570475423
|
0.00005
|
NM_015443.4(KANSL1):c.*3G>A
|
rs372125138
|
0.00004
|
NM_015443.4(KANSL1):c.-12T>C
|
rs560212050
|
0.00004
|
NM_015443.4(KANSL1):c.-47C>T
|
rs765669550
|
0.00004
|
NM_015443.4(KANSL1):c.1087A>G (p.Thr363Ala)
|
rs138704004
|
0.00004
|
NM_015443.4(KANSL1):c.1092A>C (p.Ser364=)
|
rs1383244175
|
0.00004
|
NM_015443.4(KANSL1):c.1185A>G (p.Glu395=)
|
rs199820469
|
0.00004
|
NM_015443.4(KANSL1):c.118G>A (p.Ala40Thr)
|
rs376632173
|
0.00004
|
NM_015443.4(KANSL1):c.1565A>G (p.His522Arg)
|
rs587625643
|
0.00004
|
NM_015443.4(KANSL1):c.1652C>T (p.Thr551Ile)
|
rs778178483
|
0.00004
|
NM_015443.4(KANSL1):c.1831G>A (p.Val611Ile)
|
rs202150313
|
0.00004
|
NM_015443.4(KANSL1):c.1848+3C>T
|
rs763185589
|
0.00004
|
NM_015443.4(KANSL1):c.1848+4G>A
|
rs766458949
|
0.00004
|
NM_015443.4(KANSL1):c.1870C>T (p.Arg624Cys)
|
rs368180304
|
0.00004
|
NM_015443.4(KANSL1):c.2204-11C>A
|
rs373489007
|
0.00004
|
NM_015443.4(KANSL1):c.2238C>T (p.Thr746=)
|
rs753466273
|
0.00004
|
NM_015443.4(KANSL1):c.2298A>G (p.Pro766=)
|
rs367624499
|
0.00004
|
NM_015443.4(KANSL1):c.2322A>G (p.Pro774=)
|
rs765777662
|
0.00004
|
NM_015443.4(KANSL1):c.2414T>C (p.Met805Thr)
|
rs201526313
|
0.00004
|
NM_015443.4(KANSL1):c.2480C>T (p.Ser827Phe)
|
rs773238363
|
0.00004
|
NM_015443.4(KANSL1):c.2985G>A (p.Pro995=)
|
rs371484505
|
0.00004
|
NM_015443.4(KANSL1):c.3056G>A (p.Arg1019His)
|
rs781056926
|
0.00004
|
NM_015443.4(KANSL1):c.3138C>G (p.Pro1046=)
|
rs776183957
|
0.00004
|
NM_015443.4(KANSL1):c.541C>T (p.Arg181Trp)
|
rs375225315
|
0.00004
|
NM_015443.4(KANSL1):c.779G>T (p.Gly260Val)
|
rs758752787
|
0.00004
|
NM_015443.4(KANSL1):c.810G>A (p.Leu270=)
|
rs762766030
|
0.00004
|
NM_015443.4(KANSL1):c.898A>G (p.Arg300Gly)
|
rs780539765
|
0.00004
|
NM_015443.4(KANSL1):c.*2C>T
|
rs774194245
|
0.00003
|
NM_015443.4(KANSL1):c.-34G>A
|
rs369409842
|
0.00003
|
NM_015443.4(KANSL1):c.-90+394C>G
|
rs1057523908
|
0.00003
|
NM_015443.4(KANSL1):c.-90+404G>C
|
rs796052591
|
0.00003
|
NM_015443.4(KANSL1):c.1021C>T (p.Arg341Trp)
|
rs373918467
|
0.00003
|
NM_015443.4(KANSL1):c.1059C>A (p.Ala353=)
|
rs761810633
|
0.00003
|
NM_015443.4(KANSL1):c.1138T>C (p.Leu380=)
|
rs945190511
|
0.00003
|
NM_015443.4(KANSL1):c.1141G>C (p.Glu381Gln)
|
rs779968528
|
0.00003
|
NM_015443.4(KANSL1):c.117C>T (p.Asn39=)
|
rs747136051
|
0.00003
|
NM_015443.4(KANSL1):c.1431+13T>G
|
rs1057520294
|
0.00003
|
NM_015443.4(KANSL1):c.1613C>T (p.Ser538Leu)
|
rs142435060
|
0.00003
|
NM_015443.4(KANSL1):c.1830C>T (p.Ile610=)
|
rs150800846
|
0.00003
|
NM_015443.4(KANSL1):c.1855C>T (p.Arg619Trp)
|
rs141298741
|
0.00003
|
NM_015443.4(KANSL1):c.1856G>A (p.Arg619Gln)
|
rs1424923651
|
0.00003
|
NM_015443.4(KANSL1):c.1900G>A (p.Ala634Thr)
|
rs145938212
|
0.00003
|
NM_015443.4(KANSL1):c.1929C>T (p.Thr643=)
|
rs937831873
|
0.00003
|
NM_015443.4(KANSL1):c.1945C>G (p.His649Asp)
|
rs759914921
|
0.00003
|
NM_015443.4(KANSL1):c.2130C>T (p.Pro710=)
|
rs190201507
|
0.00003
|
NM_015443.4(KANSL1):c.2424G>A (p.Ser808=)
|
rs570967215
|
0.00003
|
NM_015443.4(KANSL1):c.2529A>T (p.Thr843=)
|
rs747933631
|
0.00003
|
NM_015443.4(KANSL1):c.2640G>A (p.Leu880=)
|
rs773932947
|
0.00003
|
NM_015443.4(KANSL1):c.2724+32C>T
|
rs369804494
|
0.00003
|
NM_015443.4(KANSL1):c.2837+8G>A
|
rs1057521434
|
0.00003
|
NM_015443.4(KANSL1):c.3002C>T (p.Pro1001Leu)
|
rs1037585739
|
0.00003
|
NM_015443.4(KANSL1):c.3008C>T (p.Thr1003Ile)
|
rs775516828
|
0.00003
|
NM_015443.4(KANSL1):c.3038T>C (p.Leu1013Ser)
|
rs138490347
|
0.00003
|
NM_015443.4(KANSL1):c.3082G>C (p.Asp1028His)
|
rs765297359
|
0.00003
|
NM_015443.4(KANSL1):c.3091-3C>T
|
rs374360315
|
0.00003
|
NM_015443.4(KANSL1):c.3260C>T (p.Pro1087Leu)
|
rs781609742
|
0.00003
|
NM_015443.4(KANSL1):c.387A>G (p.Pro129=)
|
rs753493307
|
0.00003
|
NM_015443.4(KANSL1):c.468G>C (p.Gly156=)
|
rs150877831
|
0.00003
|
NM_015443.4(KANSL1):c.56G>A (p.Arg19Gln)
|
rs767960522
|
0.00003
|
NM_015443.4(KANSL1):c.706T>C (p.Ser236Pro)
|
rs747832991
|
0.00003
|
NM_015443.4(KANSL1):c.843C>T (p.Asp281=)
|
rs753023870
|
0.00003
|
NM_015443.4(KANSL1):c.900A>G (p.Arg300=)
|
rs1257335790
|
0.00003
|
NM_015443.4(KANSL1):c.963G>A (p.Leu321=)
|
rs772111208
|
0.00003
|
NM_015443.4(KANSL1):c.1022G>A (p.Arg341Gln)
|
rs371321182
|
0.00002
|
NM_015443.4(KANSL1):c.1098A>T (p.Gly366=)
|
rs770047969
|
0.00002
|
NM_015443.4(KANSL1):c.1106A>G (p.Asn369Ser)
|
rs139564524
|
0.00002
|
NM_015443.4(KANSL1):c.1110T>C (p.Phe370=)
|
rs374053775
|
0.00002
|
NM_015443.4(KANSL1):c.1118G>C (p.Ser373Thr)
|
rs747621748
|
0.00002
|
NM_015443.4(KANSL1):c.112G>A (p.Gly38Ser)
|
rs770738115
|
0.00002
|
NM_015443.4(KANSL1):c.1290-20C>T
|
rs373424916
|
0.00002
|
NM_015443.4(KANSL1):c.1294C>T (p.Arg432Cys)
|
rs755296202
|
0.00002
|
NM_015443.4(KANSL1):c.1459C>G (p.Pro487Ala)
|
rs566436667
|
0.00002
|
NM_015443.4(KANSL1):c.1461C>G (p.Pro487=)
|
rs750652072
|
0.00002
|
NM_015443.4(KANSL1):c.1533+9A>G
|
rs761638144
|
0.00002
|
NM_015443.4(KANSL1):c.1652+10A>C
|
rs1163350467
|
0.00002
|
NM_015443.4(KANSL1):c.1867A>G (p.Ile623Val)
|
rs767702173
|
0.00002
|
NM_015443.4(KANSL1):c.1899C>T (p.Cys633=)
|
rs148259171
|
0.00002
|
NM_015443.4(KANSL1):c.1902A>G (p.Ala634=)
|
rs757691368
|
0.00002
|
NM_015443.4(KANSL1):c.2111C>T (p.Ser704Leu)
|
rs762407803
|
0.00002
|
NM_015443.4(KANSL1):c.2203+17C>T
|
rs372797286
|
0.00002
|
NM_015443.4(KANSL1):c.2262G>A (p.Val754=)
|
rs141092796
|
0.00002
|
NM_015443.4(KANSL1):c.228A>G (p.Gln76=)
|
rs1018528687
|
0.00002
|
NM_015443.4(KANSL1):c.2331C>T (p.Pro777=)
|
rs139663254
|
0.00002
|
NM_015443.4(KANSL1):c.2406C>A (p.His802Gln)
|
rs773681267
|
0.00002
|
NM_015443.4(KANSL1):c.2463C>T (p.Pro821=)
|
rs765044321
|
0.00002
|
NM_015443.4(KANSL1):c.2687A>G (p.Gln896Arg)
|
rs774020325
|
0.00002
|
NM_015443.4(KANSL1):c.2739C>T (p.Ser913=)
|
rs755326320
|
0.00002
|
NM_015443.4(KANSL1):c.2791C>T (p.Arg931Trp)
|
rs377108187
|
0.00002
|
NM_015443.4(KANSL1):c.3185G>A (p.Arg1062His)
|
rs768018906
|
0.00002
|
NM_015443.4(KANSL1):c.3272G>A (p.Arg1091Gln)
|
rs752029022
|
0.00002
|
NM_015443.4(KANSL1):c.3305C>T (p.Pro1102Leu)
|
rs542543248
|
0.00002
|
NM_015443.4(KANSL1):c.372G>A (p.Leu124=)
|
rs778607325
|
0.00002
|
NM_015443.4(KANSL1):c.669T>C (p.Tyr223=)
|
rs778659171
|
0.00002
|
NM_015443.4(KANSL1):c.674A>G (p.Asn225Ser)
|
rs766543331
|
0.00002
|
NM_015443.4(KANSL1):c.720G>A (p.Pro240=)
|
rs757669369
|
0.00002
|
NM_015443.4(KANSL1):c.767C>T (p.Ser256Phe)
|
rs537773238
|
0.00002
|
NM_015443.4(KANSL1):c.803C>T (p.Ser268Phe)
|
rs1343422507
|
0.00002
|
NM_015443.4(KANSL1):c.850A>G (p.Ile284Val)
|
rs766991003
|
0.00002
|
NM_015443.4(KANSL1):c.869G>A (p.Arg290Gln)
|
rs775473139
|
0.00002
|
NM_015443.4(KANSL1):c.-89-17T>C
|
rs1051577933
|
0.00001
|
NM_015443.4(KANSL1):c.100G>A (p.Ala34Thr)
|
rs761416645
|
0.00001
|
NM_015443.4(KANSL1):c.1013T>C (p.Leu338Ser)
|
rs200997135
|
0.00001
|
NM_015443.4(KANSL1):c.102C>T (p.Ala34=)
|
rs763633500
|
0.00001
|
NM_015443.4(KANSL1):c.103G>A (p.Glu35Lys)
|
rs369793673
|
0.00001
|
NM_015443.4(KANSL1):c.1042C>G (p.Arg348Gly)
|
rs1427624649
|
0.00001
|
NM_015443.4(KANSL1):c.1088C>T (p.Thr363Ile)
|
rs775962610
|
0.00001
|
NM_015443.4(KANSL1):c.1227G>A (p.Gly409=)
|
rs759914607
|
0.00001
|
NM_015443.4(KANSL1):c.1255A>G (p.Thr419Ala)
|
rs778528850
|
0.00001
|
NM_015443.4(KANSL1):c.1265A>T (p.Asp422Val)
|
rs191058987
|
0.00001
|
NM_015443.4(KANSL1):c.1270G>A (p.Glu424Lys)
|
rs780942888
|
0.00001
|
NM_015443.4(KANSL1):c.1289+9A>C
|
rs760002592
|
0.00001
|
NM_015443.4(KANSL1):c.1295G>A (p.Arg432His)
|
rs754111757
|
0.00001
|
NM_015443.4(KANSL1):c.1296C>T (p.Arg432=)
|
rs1469183886
|
0.00001
|
NM_015443.4(KANSL1):c.1305A>G (p.Glu435=)
|
rs532980212
|
0.00001
|
NM_015443.4(KANSL1):c.1391G>A (p.Arg464His)
|
rs769289937
|
0.00001
|
NM_015443.4(KANSL1):c.1402G>C (p.Asp468His)
|
rs745576981
|
0.00001
|
NM_015443.4(KANSL1):c.1405A>G (p.Ile469Val)
|
rs1397262734
|
0.00001
|
NM_015443.4(KANSL1):c.141C>T (p.Asn47=)
|
rs1403319543
|
0.00001
|
NM_015443.4(KANSL1):c.1421G>A (p.Arg474His)
|
rs770719196
|
0.00001
|
NM_015443.4(KANSL1):c.142G>A (p.Gly48Arg)
|
rs148847759
|
0.00001
|
NM_015443.4(KANSL1):c.1432-13C>T
|
rs1280259254
|
0.00001
|
NM_015443.4(KANSL1):c.1469A>C (p.His490Pro)
|
rs2079022531
|
0.00001
|
NM_015443.4(KANSL1):c.1523C>A (p.Thr508Asn)
|
rs375555532
|
0.00001
|
NM_015443.4(KANSL1):c.1547C>G (p.Ser516Cys)
|
rs796052584
|
0.00001
|
NM_015443.4(KANSL1):c.1590T>A (p.Ile530=)
|
rs151329554
|
0.00001
|
NM_015443.4(KANSL1):c.1593A>G (p.Ser531=)
|
rs377097643
|
0.00001
|
NM_015443.4(KANSL1):c.1652+48T>C
|
rs200482801
|
0.00001
|
NM_015443.4(KANSL1):c.166G>A (p.Ala56Thr)
|
rs756625356
|
0.00001
|
NM_015443.4(KANSL1):c.1671A>G (p.Ala557=)
|
rs769241683
|
0.00001
|
NM_015443.4(KANSL1):c.1673A>T (p.Asp558Val)
|
rs551923672
|
0.00001
|
NM_015443.4(KANSL1):c.1779A>G (p.Thr593=)
|
rs372072783
|
0.00001
|
NM_015443.4(KANSL1):c.1781G>A (p.Arg594His)
|
rs1057520691
|
0.00001
|
NM_015443.4(KANSL1):c.1783C>G (p.Pro595Ala)
|
rs947698008
|
0.00001
|
NM_015443.4(KANSL1):c.1794C>A (p.Ser598Arg)
|
rs749811911
|
0.00001
|
NM_015443.4(KANSL1):c.1817G>A (p.Arg606Gln)
|
rs758110910
|
0.00001
|
NM_015443.4(KANSL1):c.181C>A (p.Leu61Ile)
|
rs1567764831
|
0.00001
|
NM_015443.4(KANSL1):c.1822A>T (p.Asn608Tyr)
|
rs375533550
|
0.00001
|
NM_015443.4(KANSL1):c.1882G>C (p.Asp628His)
|
rs375256880
|
0.00001
|
NM_015443.4(KANSL1):c.18C>T (p.Pro6=)
|
rs774056059
|
0.00001
|
NM_015443.4(KANSL1):c.191G>A (p.Arg64Gln)
|
rs752415137
|
0.00001
|
NM_015443.4(KANSL1):c.1989T>C (p.Ser663=)
|
rs368175458
|
0.00001
|
NM_015443.4(KANSL1):c.19G>A (p.Ala7Thr)
|
rs768152581
|
0.00001
|
NM_015443.4(KANSL1):c.2067G>T (p.Trp689Cys)
|
rs755418917
|
0.00001
|
NM_015443.4(KANSL1):c.2077C>G (p.Pro693Ala)
|
rs1057520758
|
0.00001
|
NM_015443.4(KANSL1):c.2106G>C (p.Lys702Asn)
|
rs371108710
|
0.00001
|
NM_015443.4(KANSL1):c.2112G>A (p.Ser704=)
|
rs775144162
|
0.00001
|
NM_015443.4(KANSL1):c.2119C>T (p.His707Tyr)
|
rs959376850
|
0.00001
|
NM_015443.4(KANSL1):c.2158C>T (p.Arg720Cys)
|
rs376233499
|
0.00001
|
NM_015443.4(KANSL1):c.2194A>G (p.Thr732Ala)
|
rs1036089094
|
0.00001
|
NM_015443.4(KANSL1):c.2203+18G>A
|
rs764721407
|
0.00001
|
NM_015443.4(KANSL1):c.2224C>T (p.Arg742Trp)
|
rs150282556
|
0.00001
|
NM_015443.4(KANSL1):c.2225G>A (p.Arg742Gln)
|
rs752047149
|
0.00001
|
NM_015443.4(KANSL1):c.2260G>A (p.Val754Met)
|
rs773184800
|
0.00001
|
NM_015443.4(KANSL1):c.2264G>A (p.Gly755Glu)
|
rs761904173
|
0.00001
|
NM_015443.4(KANSL1):c.2268C>T (p.Ala756=)
|
rs530885936
|
0.00001
|
NM_015443.4(KANSL1):c.2269G>A (p.Val757Met)
|
rs749337566
|
0.00001
|
NM_015443.4(KANSL1):c.2308C>T (p.Arg770Cys)
|
rs778213372
|
0.00001
|
NM_015443.4(KANSL1):c.2309G>A (p.Arg770His)
|
rs144377285
|
0.00001
|
NM_015443.4(KANSL1):c.2362T>C (p.Leu788=)
|
rs146821414
|
0.00001
|
NM_015443.4(KANSL1):c.2392+14C>T
|
rs1360057282
|
0.00001
|
NM_015443.4(KANSL1):c.2393-17T>G
|
rs765371986
|
0.00001
|
NM_015443.4(KANSL1):c.2417G>A (p.Ser806Asn)
|
rs539976549
|
0.00001
|
NM_015443.4(KANSL1):c.2433G>A (p.Leu811=)
|
rs2077222613
|
0.00001
|
NM_015443.4(KANSL1):c.2464T>G (p.Leu822Val)
|
rs754877424
|
0.00001
|
NM_015443.4(KANSL1):c.2490A>G (p.Ser830=)
|
rs200903355
|
0.00001
|
NM_015443.4(KANSL1):c.249C>T (p.Leu83=)
|
rs768816086
|
0.00001
|
NM_015443.4(KANSL1):c.2505C>T (p.Pro835=)
|
rs1037817208
|
0.00001
|
NM_015443.4(KANSL1):c.2506G>A (p.Ala836Thr)
|
rs935626079
|
0.00001
|
NM_015443.4(KANSL1):c.2509A>G (p.Ser837Gly)
|
rs776349500
|
0.00001
|
NM_015443.4(KANSL1):c.2541G>A (p.Ser847=)
|
rs200079722
|
0.00001
|
NM_015443.4(KANSL1):c.2547G>A (p.Gln849=)
|
rs763362339
|
0.00001
|
NM_015443.4(KANSL1):c.2643A>G (p.Gln881=)
|
rs749039030
|
0.00001
|
NM_015443.4(KANSL1):c.2677G>A (p.Val893Ile)
|
rs1057523139
|
0.00001
|
NM_015443.4(KANSL1):c.267T>C (p.Ser89=)
|
rs756494221
|
0.00001
|
NM_015443.4(KANSL1):c.2724+17T>C
|
rs1057523856
|
0.00001
|
NM_015443.4(KANSL1):c.2724+23A>G
|
rs544544589
|
0.00001
|
NM_015443.4(KANSL1):c.2734C>T (p.Leu912=)
|
rs775053273
|
0.00001
|
NM_015443.4(KANSL1):c.2736A>G (p.Leu912=)
|
rs779145246
|
0.00001
|
NM_015443.4(KANSL1):c.2743G>A (p.Ala915Thr)
|
rs756685224
|
0.00001
|
NM_015443.4(KANSL1):c.2754C>T (p.Ala918=)
|
rs138070874
|
0.00001
|
NM_015443.4(KANSL1):c.277A>G (p.Lys93Glu)
|
rs752219095
|
0.00001
|
NM_015443.4(KANSL1):c.2792G>A (p.Arg931Gln)
|
rs1400431996
|
0.00001
|
NM_015443.4(KANSL1):c.2807C>T (p.Thr936Met)
|
rs867665726
|
0.00001
|
NM_015443.4(KANSL1):c.2808G>A (p.Thr936=)
|
rs372559911
|
0.00001
|
NM_015443.4(KANSL1):c.2812G>T (p.Val938Leu)
|
rs774259324
|
0.00001
|
NM_015443.4(KANSL1):c.2838-9G>T
|
rs190142867
|
0.00001
|
NM_015443.4(KANSL1):c.2856C>T (p.Asp952=)
|
rs1431158114
|
0.00001
|
NM_015443.4(KANSL1):c.2860C>T (p.Arg954Trp)
|
rs1322831151
|
0.00001
|
NM_015443.4(KANSL1):c.2861G>A (p.Arg954Gln)
|
rs376635152
|
0.00001
|
NM_015443.4(KANSL1):c.2878G>A (p.Gly960Ser)
|
rs1315792143
|
0.00001
|
NM_015443.4(KANSL1):c.2897C>T (p.Thr966Ile)
|
rs763252158
|
0.00001
|
NM_015443.4(KANSL1):c.2900C>A (p.Pro967His)
|
rs770177501
|
0.00001
|
NM_015443.4(KANSL1):c.2913C>A (p.Ser971=)
|
rs781514778
|
0.00001
|
NM_015443.4(KANSL1):c.2984C>T (p.Pro995Leu)
|
rs761819132
|
0.00001
|
NM_015443.4(KANSL1):c.3011C>T (p.Pro1004Leu)
|
rs573432386
|
0.00001
|
NM_015443.4(KANSL1):c.3016G>T (p.Ala1006Ser)
|
rs1286813277
|
0.00001
|
NM_015443.4(KANSL1):c.3019C>T (p.Arg1007Trp)
|
rs1057522661
|
0.00001
|
NM_015443.4(KANSL1):c.3020G>A (p.Arg1007Gln)
|
rs148203818
|
0.00001
|
NM_015443.4(KANSL1):c.3025A>C (p.Thr1009Pro)
|
rs777045712
|
0.00001
|
NM_015443.4(KANSL1):c.3030G>A (p.Pro1010=)
|
rs748843892
|
0.00001
|
NM_015443.4(KANSL1):c.3031C>A (p.Arg1011=)
|
rs779686052
|
0.00001
|
NM_015443.4(KANSL1):c.3090+10G>A
|
rs1362252302
|
0.00001
|
NM_015443.4(KANSL1):c.3090+9C>T
|
rs201117362
|
0.00001
|
NM_015443.4(KANSL1):c.3091-5_3091-2dup
|
rs760084513
|
0.00001
|
NM_015443.4(KANSL1):c.3094G>C (p.Val1032Leu)
|
rs767917046
|
0.00001
|
NM_015443.4(KANSL1):c.3110G>A (p.Arg1037Gln)
|
rs762427291
|
0.00001
|
NM_015443.4(KANSL1):c.3116C>T (p.Thr1039Ile)
|
rs1444239074
|
0.00001
|
NM_015443.4(KANSL1):c.3123C>G (p.Pro1041=)
|
rs960036500
|
0.00001
|
NM_015443.4(KANSL1):c.3128C>T (p.Ala1043Val)
|
rs1194713411
|
0.00001
|
NM_015443.4(KANSL1):c.3129G>A (p.Ala1043=)
|
rs140670092
|
0.00001
|
NM_015443.4(KANSL1):c.3139C>G (p.Gln1047Glu)
|
rs770548045
|
0.00001
|
NM_015443.4(KANSL1):c.3143C>T (p.Ala1048Val)
|
rs200719065
|
0.00001
|
NM_015443.4(KANSL1):c.3154G>A (p.Asp1052Asn)
|
rs1037675968
|
0.00001
|
NM_015443.4(KANSL1):c.3167C>T (p.Ala1056Val)
|
rs1363712616
|
0.00001
|
NM_015443.4(KANSL1):c.316A>G (p.Thr106Ala)
|
rs371450753
|
0.00001
|
NM_015443.4(KANSL1):c.3196C>T (p.Arg1066Cys)
|
rs1259929847
|
0.00001
|
NM_015443.4(KANSL1):c.3221G>A (p.Arg1074Gln)
|
rs763541067
|
0.00001
|
NM_015443.4(KANSL1):c.3230A>T (p.Glu1077Val)
|
rs760256746
|
0.00001
|
NM_015443.4(KANSL1):c.3236C>T (p.Ala1079Val)
|
rs370112084
|
0.00001
|
NM_015443.4(KANSL1):c.3238C>T (p.Pro1080Ser)
|
rs199769766
|
0.00001
|
NM_015443.4(KANSL1):c.3245C>T (p.Ser1082Leu)
|
rs749241540
|
0.00001
|
NM_015443.4(KANSL1):c.3246G>A (p.Ser1082=)
|
rs779999524
|
0.00001
|
NM_015443.4(KANSL1):c.324T>C (p.Leu108=)
|
rs1041479241
|
0.00001
|
NM_015443.4(KANSL1):c.3258C>T (p.Val1086=)
|
rs750644383
|
0.00001
|
NM_015443.4(KANSL1):c.3275A>G (p.His1092Arg)
|
rs963795454
|
0.00001
|
NM_015443.4(KANSL1):c.3279G>T (p.Leu1093=)
|
rs1404523701
|
0.00001
|
NM_015443.4(KANSL1):c.3292A>G (p.Thr1098Ala)
|
rs1470593799
|
0.00001
|
NM_015443.4(KANSL1):c.33A>G (p.Ala11=)
|
rs769676607
|
0.00001
|
NM_015443.4(KANSL1):c.362G>A (p.Arg121Gln)
|
rs747500833
|
0.00001
|
NM_015443.4(KANSL1):c.406G>C (p.Glu136Gln)
|
rs2046302554
|
0.00001
|
NM_015443.4(KANSL1):c.418A>C (p.Thr140Pro)
|
rs2046302196
|
0.00001
|
NM_015443.4(KANSL1):c.439A>G (p.Thr147Ala)
|
rs761775758
|
0.00001
|
NM_015443.4(KANSL1):c.454G>A (p.Ala152Thr)
|
rs538005482
|
0.00001
|
NM_015443.4(KANSL1):c.455C>T (p.Ala152Val)
|
rs775582928
|
0.00001
|
NM_015443.4(KANSL1):c.481T>C (p.Leu161=)
|
rs777106355
|
0.00001
|
NM_015443.4(KANSL1):c.496A>G (p.Thr166Ala)
|
rs778413024
|
0.00001
|
NM_015443.4(KANSL1):c.500A>G (p.His167Arg)
|
rs779594202
|
0.00001
|
NM_015443.4(KANSL1):c.520A>G (p.Thr174Ala)
|
rs1057520684
|
0.00001
|
NM_015443.4(KANSL1):c.542G>A (p.Arg181Gln)
|
rs771481251
|
0.00001
|
NM_015443.4(KANSL1):c.551C>A (p.Thr184Asn)
|
rs1366986871
|
0.00001
|
NM_015443.4(KANSL1):c.555A>C (p.Ser185=)
|
rs199498626
|
0.00001
|
NM_015443.4(KANSL1):c.585A>G (p.Gly195=)
|
rs751318218
|
0.00001
|
NM_015443.4(KANSL1):c.608G>T (p.Gly203Val)
|
rs759522694
|
0.00001
|
NM_015443.4(KANSL1):c.610G>A (p.Gly204Ser)
|
rs1057520810
|
0.00001
|
NM_015443.4(KANSL1):c.623G>A (p.Cys208Tyr)
|
rs762448559
|
0.00001
|
NM_015443.4(KANSL1):c.625A>G (p.Thr209Ala)
|
rs1301400639
|
0.00001
|
NM_015443.4(KANSL1):c.641G>A (p.Ser214Asn)
|
rs746645554
|
0.00001
|
NM_015443.4(KANSL1):c.652G>C (p.Glu218Gln)
|
rs1268624539
|
0.00001
|
NM_015443.4(KANSL1):c.665T>C (p.Leu222Ser)
|
rs1297046144
|
0.00001
|
NM_015443.4(KANSL1):c.682A>T (p.Thr228Ser)
|
rs762022186
|
0.00001
|
NM_015443.4(KANSL1):c.702C>A (p.Val234=)
|
rs1057521846
|
0.00001
|
NM_015443.4(KANSL1):c.709A>G (p.Met237Val)
|
rs778942078
|
0.00001
|
NM_015443.4(KANSL1):c.723A>G (p.Ala241=)
|
rs375054119
|
0.00001
|
NM_015443.4(KANSL1):c.744A>G (p.Leu248=)
|
rs748000142
|
0.00001
|
NM_015443.4(KANSL1):c.754A>G (p.Thr252Ala)
|
rs368487719
|
0.00001
|
NM_015443.4(KANSL1):c.798A>G (p.Lys266=)
|
rs765667414
|
0.00001
|
NM_015443.4(KANSL1):c.802T>C (p.Ser268Pro)
|
rs767021119
|
0.00001
|
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs)
|
rs551541795
|
0.00001
|
NM_015443.4(KANSL1):c.817A>G (p.Ile273Val)
|
rs769802260
|
0.00001
|
NM_015443.4(KANSL1):c.82A>G (p.Thr28Ala)
|
rs765632680
|
0.00001
|
NM_015443.4(KANSL1):c.837T>C (p.Asp279=)
|
rs758771116
|
0.00001
|
NM_015443.4(KANSL1):c.844A>C (p.Thr282Pro)
|
rs1371045758
|
0.00001
|
NM_015443.4(KANSL1):c.853A>G (p.Thr285Ala)
|
rs925132857
|
0.00001
|
NM_015443.4(KANSL1):c.858T>C (p.Ala286=)
|
rs923328856
|
0.00001
|
NM_015443.4(KANSL1):c.865C>T (p.Arg289Trp)
|
rs373759089
|
0.00001
|
NM_015443.4(KANSL1):c.881T>C (p.Ile294Thr)
|
rs747048362
|
0.00001
|
NM_015443.4(KANSL1):c.895C>T (p.Arg299Cys)
|
rs755353984
|
0.00001
|
NM_015443.4(KANSL1):c.8C>T (p.Ala3Val)
|
rs376233244
|
0.00001
|
NM_015443.4(KANSL1):c.907A>G (p.Lys303Glu)
|
rs1263813959
|
0.00001
|
NM_015443.4(KANSL1):c.910C>T (p.Arg304Cys)
|
rs756749550
|
0.00001
|
NM_015443.4(KANSL1):c.912C>T (p.Arg304=)
|
rs1175646397
|
0.00001
|
NM_015443.4(KANSL1):c.913T>C (p.Leu305=)
|
rs751030588
|
0.00001
|
NM_015443.4(KANSL1):c.92C>T (p.Pro31Leu)
|
rs754355381
|
0.00001
|
NM_015443.4(KANSL1):c.930C>G (p.Ala310=)
|
rs763673329
|
0.00001
|
NM_015443.4(KANSL1):c.942G>C (p.Glu314Asp)
|
rs765182404
|
0.00001
|
NM_015443.4(KANSL1):c.951A>G (p.Ile317Met)
|
rs776437091
|
0.00001
|
NM_015443.4(KANSL1):c.954A>G (p.Gln318=)
|
rs773332161
|
0.00001
|
NM_015443.4(KANSL1):c.999A>G (p.Pro333=)
|
rs768902865
|
0.00001
|
NM_015443.4(KANSL1):c.99T>C (p.Ser33=)
|
rs766805510
|
0.00001
|
GRCh37/hg19 17q21.31(chr17:44108100-44129253)x1
|
|
|
GRCh37/hg19 17q21.31(chr17:44121342-44368212)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44133070-44291381)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44133070-44291479)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44133070-44293981)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44135737-44212416)x1
|
|
|
GRCh37/hg19 17q21.31(chr17:44135827-44293981)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44135827-44294494)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44135985-44292319)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44147793-44293981)x2
|
|
|
GRCh37/hg19 17q21.31(chr17:44150161-44277825)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44157597-44291399)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44157597-44293981)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44157597-44294494)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44159988-44293981)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44160674-44293981)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44160674-44298279)x2
|
|
|
GRCh37/hg19 17q21.31(chr17:44161441-44284057)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44161441-44293981)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44161441-44298279)x1
|
|
|
GRCh37/hg19 17q21.31(chr17:44162284-44293981)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44163809-44292319)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44163925-44291479)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44163925-44298279)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44163925-44364649)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44164918-44194646)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44164918-44259919)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44164918-44277867)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44164918-44290047)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44164918-44291399)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44164918-44291479)x4
|
|
|
GRCh37/hg19 17q21.31(chr17:44164918-44292126)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44164918-44292896)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44164918-44294105)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44164918-44296000)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44164918-44296224)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44164918-44326245)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44164956-44269493)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44164956-44273264)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44164956-44281308)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44164956-44292126)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44164956-44292319)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44164956-44293981)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44164956-44294105)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44164956-44294494)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44164956-44298279)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44164956-44326245)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44164956-44343902)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44164956-44350090)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44165803-44197806)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44165803-44212727)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44165803-44266531)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44165803-44277265)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44165803-44277825)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44165803-44277867)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44165803-44288156)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44165803-44288640)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44165803-44292126)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44165803-44292319)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44165803-44292884)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44165803-44292896)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44165803-44294105)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44165803-44294494)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44165803-44295695)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44165803-44296224)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44165803-44298279)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44165803-44350090)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44165803-44357351)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44165803-44364649)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44165803-44368212)x4
|
|
|
GRCh37/hg19 17q21.31(chr17:44166193-44368212)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44166455-44179155)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44166455-44291399)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44166455-44292319)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44166455-44292884)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44166500-44294105)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44166646-44292126)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44166669-44292319)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44167366-44296224)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44169605-44292319)x2
|
|
|
GRCh37/hg19 17q21.31(chr17:44169808-44293981)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44170018-44326245)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44176209-44274474)x2
|
|
|
GRCh37/hg19 17q21.31(chr17:44177993-44296224)x2
|
|
|
GRCh37/hg19 17q21.31(chr17:44178337-44368212)x1
|
|
|
GRCh37/hg19 17q21.31(chr17:44189067-44345063)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44189067-44350090)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44199417-44292319)x4
|
|
|
GRCh37/hg19 17q21.31(chr17:44199417-44298279)x2
|
|
|
GRCh37/hg19 17q21.31(chr17:44202852-44292884)x2
|
|
|
GRCh37/hg19 17q21.31(chr17:44202852-44298279)x1
|
|
|
GRCh37/hg19 17q21.31(chr17:44205500-44291479)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44206079-44294105)x1
|
|
|
GRCh37/hg19 17q21.31(chr17:44212310-44292319)x1
|
|
|
GRCh37/hg19 17q21.31(chr17:44212727-44298279)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44213187-44223107)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44213187-44274985)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44213187-44288579)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44213187-44288640)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44213187-44291479)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44213187-44292319)x1
|
|
|
GRCh37/hg19 17q21.31(chr17:44213187-44292319)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44213187-44293981)x1
|
|
|
GRCh37/hg19 17q21.31(chr17:44213187-44294105)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44213187-44298279)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44213187-44326245)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44213712-44294105)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44214888-44296224)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44215823-44279803)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44215823-44288284)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44215823-44288640)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44215823-44292126)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44215823-44292319)x2
|
|
|
GRCh37/hg19 17q21.31(chr17:44215823-44296224)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44216013-44275737)x1
|
|
|
GRCh37/hg19 17q21.31(chr17:44216322-44284600)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44217267-44288284)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44218044-44298279)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44221602-44231117)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44240502-44288284)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44240986-44331214)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44240986-44350090)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44240986-44354796)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44240986-44368212)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44249096-44293020)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44249838-44259539)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44263923-44277825)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44274474-44277017)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44274985-44292319)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44275035-44277825)x4
|
|
|
GRCh37/hg19 17q21.31(chr17:44285531-44292319)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44285531-44293981)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44285683-44293981)x3
|
|
|
NC_000017.10:g.(?_44108822)_(44128090_?)dup
|
|
|
NC_000017.10:g.(?_44108822)_(44159928_?)dup
|
|
|
NC_000017.10:g.(?_44159787)_(44159928_?)dup
|
|
|
NC_000017.11:g.(?_46031456)_(46067687_?)dup
|
|
|
NC_000017.11:g.(?_46031456)_(46082562_?)del
|
|
|
NM_001193466.1:c.1290-?_1431+?dup
|
|
|
NM_015443.4(KANSL1):c.*1103dup
|
rs142756815
|
|
NM_015443.4(KANSL1):c.*1234_*1235dup
|
rs140510364
|
|
NM_015443.4(KANSL1):c.*1354dup
|
rs67641084
|
|
NM_015443.4(KANSL1):c.*1519AAG[1]
|
|
|
NM_015443.4(KANSL1):c.*1520dup
|
rs67801660
|
|
NM_015443.4(KANSL1):c.*1551del
|
rs767830420
|
|
NM_015443.4(KANSL1):c.*28ACTA[1]
|
rs767896466
|
|
NM_015443.4(KANSL1):c.-194C>A
|
rs56266533
|
|
NM_015443.4(KANSL1):c.-23_-2del
|
rs2147753838
|
|
NM_015443.4(KANSL1):c.-49CTCGGC[1]
|
rs769218713
|
|
NM_015443.4(KANSL1):c.-49CTCGGC[3]
|
rs769218713
|
|
NM_015443.4(KANSL1):c.-70G>T
|
rs1203577051
|
|
NM_015443.4(KANSL1):c.-72C>T
|
rs1555576484
|
|
NM_015443.4(KANSL1):c.-89-322dup
|
rs35095455
|
|
NM_015443.4(KANSL1):c.-90+19C>G
|
rs1057516026
|
|
NM_015443.4(KANSL1):c.-90+24CCT[3]
|
rs143625699
|
|
NM_015443.4(KANSL1):c.-90+348_-90+352del
|
rs141752007
|
|
NM_015443.4(KANSL1):c.-90+392G>A
|
rs1057523278
|
|
NM_015443.4(KANSL1):c.-90+420C>A
|
rs189789192
|
|
NM_015443.4(KANSL1):c.-90+420C>G
|
rs189789192
|
|
NM_015443.4(KANSL1):c.-90+500_-90+501dup
|
rs373582551
|
|
NM_015443.4(KANSL1):c.-90+500_-90+502dup
|
rs373582551
|
|
NM_015443.4(KANSL1):c.-90+500dup
|
rs373582551
|
|
NM_015443.4(KANSL1):c.-90+512del
|
rs373582551
|
|
NM_015443.4(KANSL1):c.-90+55_-90+57del
|
rs534448299
|
|
NM_015443.4(KANSL1):c.1000A>T (p.Asn334Tyr)
|
rs112150341
|
|
NM_015443.4(KANSL1):c.1002C>G (p.Asn334Lys)
|
rs1272158850
|
|
NM_015443.4(KANSL1):c.1004T>G (p.Leu335Trp)
|
rs1344231808
|
|
NM_015443.4(KANSL1):c.1006G>T (p.Glu336Ter)
|
rs1555575197
|
|
NM_015443.4(KANSL1):c.1010_1011delinsTG (p.Ser337Leu)
|
rs1064795666
|
|
NM_015443.4(KANSL1):c.1020A>G (p.Pro340=)
|
rs1374127270
|
|
NM_015443.4(KANSL1):c.1029G>A (p.Gln343=)
|
rs1393967586
|
|
NM_015443.4(KANSL1):c.1030T>C (p.Leu344=)
|
rs2147734860
|
|
NM_015443.4(KANSL1):c.1036C>A (p.Leu346Met)
|
|
|
NM_015443.4(KANSL1):c.1039_1057del (p.Thr347fs)
|
rs2046260021
|
|
NM_015443.4(KANSL1):c.1042C>T (p.Arg348Ter)
|
rs1427624649
|
|
NM_015443.4(KANSL1):c.1046del (p.Lys349fs)
|
rs1567761585
|
|
NM_015443.4(KANSL1):c.1049C>G (p.Ala350Gly)
|
rs932987742
|
|
NM_015443.4(KANSL1):c.1057G>T (p.Ala353Ser)
|
rs1466777621
|
|
NM_015443.4(KANSL1):c.1074C>T (p.Ala358=)
|
rs2147733945
|
|
NM_015443.4(KANSL1):c.1075A>C (p.Ser359Arg)
|
rs1309097254
|
|
NM_015443.4(KANSL1):c.1075A>G (p.Ser359Gly)
|
rs1309097254
|
|
NM_015443.4(KANSL1):c.1080G>A (p.Glu360=)
|
rs1232525310
|
|
NM_015443.4(KANSL1):c.1083C>T (p.Thr361=)
|
rs2147733729
|
|
NM_015443.4(KANSL1):c.1093G>A (p.Glu365Lys)
|
rs2046257372
|
|
NM_015443.4(KANSL1):c.1095G>A (p.Glu365=)
|
rs2147733459
|
|
NM_015443.4(KANSL1):c.1104C>G (p.Ser368Arg)
|
rs746438012
|
|
NM_015443.4(KANSL1):c.1107C>A (p.Asn369Lys)
|
rs2147733228
|
|
NM_015443.4(KANSL1):c.110A>G (p.Asn37Ser)
|
rs769773348
|
|
NM_015443.4(KANSL1):c.1110del (p.Phe370_Leu371insTer)
|
rs2147733170
|
|
NM_015443.4(KANSL1):c.1111C>G (p.Leu371Val)
|
rs943298404
|
|
NM_015443.4(KANSL1):c.1114A>G (p.Lys372Glu)
|
rs2147733057
|
|
NM_015443.4(KANSL1):c.1126A>G (p.Ile376Val)
|
rs754713192
|
|
NM_015443.4(KANSL1):c.1142A>G (p.Glu381Gly)
|
rs796052602
|
|
NM_015443.4(KANSL1):c.1145G>A (p.Arg382Lys)
|
rs369920825
|
|
NM_015443.4(KANSL1):c.1152A>G (p.Thr384=)
|
rs1597870803
|
|
NM_015443.4(KANSL1):c.1154C>T (p.Ala385Val)
|
rs913316099
|
|
NM_015443.4(KANSL1):c.1155T>G (p.Ala385=)
|
rs1597870775
|
|
NM_015443.4(KANSL1):c.1165G>A (p.Ala389Thr)
|
|
|
NM_015443.4(KANSL1):c.1166C>T (p.Ala389Val)
|
rs368394693
|
|
NM_015443.4(KANSL1):c.116A>C (p.Asn39Thr)
|
rs1060502199
|
|
NM_015443.4(KANSL1):c.116A>G (p.Asn39Ser)
|
rs1060502199
|
|
NM_015443.4(KANSL1):c.1180A>C (p.Ser394Arg)
|
rs751709708
|
|
NM_015443.4(KANSL1):c.1185dup (p.Gln396fs)
|
|
|
NM_015443.4(KANSL1):c.1186C>T (p.Gln396Ter)
|
rs796052603
|
|
NM_015443.4(KANSL1):c.1220C>G (p.Ser407Ter)
|
|
|
NM_015443.4(KANSL1):c.1230G>A (p.Glu410=)
|
rs777308407
|
|
NM_015443.4(KANSL1):c.1230G>T (p.Glu410Asp)
|
rs777308407
|
|
NM_015443.4(KANSL1):c.1248A>G (p.Glu416=)
|
rs1057521219
|
|
NM_015443.4(KANSL1):c.1250A>G (p.Glu417Gly)
|
rs2046249754
|
|
NM_015443.4(KANSL1):c.1256C>G (p.Thr419Ser)
|
rs1597870423
|
|
NM_015443.4(KANSL1):c.1258A>G (p.Arg420Gly)
|
rs2147730677
|
|
NM_015443.4(KANSL1):c.1268_1269del (p.Pro423fs)
|
rs1555574888
|
|
NM_015443.4(KANSL1):c.1269C>G (p.Pro423=)
|
rs750165871
|
|
NM_015443.4(KANSL1):c.1269C>T (p.Pro423=)
|
rs750165871
|
|
NM_015443.4(KANSL1):c.1269del (p.Glu424fs)
|
rs1555574888
|
|
NM_015443.4(KANSL1):c.1274A>G (p.Gln425Arg)
|
rs2147730177
|
|
NM_015443.4(KANSL1):c.1277G>C (p.Arg426Pro)
|
rs764291274
|
|
NM_015443.4(KANSL1):c.1280A>G (p.His427Arg)
|
rs1166960320
|
|
NM_015443.4(KANSL1):c.1280A>T (p.His427Leu)
|
rs1166960320
|
|
NM_015443.4(KANSL1):c.1288_1289del (p.Leu430fs)
|
rs2046246646
|
|
NM_015443.4(KANSL1):c.1289+14A>G
|
rs1189904152
|
|
NM_015443.4(KANSL1):c.1289+20G>T
|
rs2147729504
|
|
NM_015443.4(KANSL1):c.1289+3G>A
|
rs2046246397
|
|
NM_015443.4(KANSL1):c.1289+3_1289+5del
|
rs1597870189
|
|
NM_015443.4(KANSL1):c.1289+8G>C
|
rs767152233
|
|
NM_015443.4(KANSL1):c.1290-139del
|
rs66674327
|
|
NM_015443.4(KANSL1):c.1290-3dup
|
|
|
NM_015443.4(KANSL1):c.1297A>T (p.Arg433Trp)
|
rs2146948079
|
|
NM_015443.4(KANSL1):c.1318G>A (p.Ala440Thr)
|
rs1240185267
|
|
NM_015443.4(KANSL1):c.1325G>C (p.Arg442Pro)
|
rs1480307304
|
|
NM_015443.4(KANSL1):c.1326G>C (p.Arg442=)
|
rs2146947680
|
|
NM_015443.4(KANSL1):c.1327_1328insATTC (p.Ala443fs)
|
rs2146947656
|
|
NM_015443.4(KANSL1):c.1328dup (p.Ala444fs)
|
rs2146947627
|
|
NM_015443.4(KANSL1):c.1342C>T (p.Arg448Cys)
|
rs2146947447
|
|
NM_015443.4(KANSL1):c.1347G>A (p.Trp449Ter)
|
rs2146947345
|
|
NM_015443.4(KANSL1):c.1348A>C (p.Asn450His)
|
rs1057520848
|
|
NM_015443.4(KANSL1):c.134C>T (p.Ala45Val)
|
rs1555576198
|
|
NM_015443.4(KANSL1):c.1350C>G (p.Asn450Lys)
|
rs2041984144
|
|
NM_015443.4(KANSL1):c.1353G>A (p.Trp451Ter)
|
rs2041984041
|
|
NM_015443.4(KANSL1):c.1364A>G (p.His455Arg)
|
rs1057521224
|
|
NM_015443.4(KANSL1):c.1374C>T (p.Asp458=)
|
rs2146947181
|
|
NM_015443.4(KANSL1):c.1384C>T (p.Arg462Ter)
|
|
|
NM_015443.4(KANSL1):c.1404C>T (p.Asp468=)
|
rs2041983367
|
|
NM_015443.4(KANSL1):c.1407T>C (p.Ile469=)
|
rs2146946935
|
|
NM_015443.4(KANSL1):c.1410C>A (p.Tyr470Ter)
|
rs776206707
|
|
NM_015443.4(KANSL1):c.1412_1413del (p.Lys471fs)
|
rs2146946828
|
|
NM_015443.4(KANSL1):c.1420C>G (p.Arg474Gly)
|
|
|
NM_015443.4(KANSL1):c.1420C>T (p.Arg474Cys)
|
rs1018963624
|
|
NM_015443.4(KANSL1):c.1423G>A (p.Ala475Thr)
|
rs547462953
|
|
NM_015443.4(KANSL1):c.1432-14T>C
|
|
|
NM_015443.4(KANSL1):c.1432-19del
|
|
|
NM_015443.4(KANSL1):c.1432-4G>A
|
rs749329088
|
|
NM_015443.4(KANSL1):c.1432-5T>G
|
rs2146827907
|
|
NM_015443.4(KANSL1):c.1432-9A>G
|
rs768885009
|
|
NM_015443.4(KANSL1):c.1434G>T (p.Gly478=)
|
rs535131861
|
|
NM_015443.4(KANSL1):c.1450G>A (p.Glu484Lys)
|
rs1173584837
|
|
NM_015443.4(KANSL1):c.1450del (p.Glu484fs)
|
rs34878385
|
|
NM_015443.4(KANSL1):c.1452G>A (p.Glu484=)
|
rs2146827620
|
|
NM_015443.4(KANSL1):c.1454T>A (p.Val485Glu)
|
|
|
NM_015443.4(KANSL1):c.1455A>G (p.Val485=)
|
|
|
NM_015443.4(KANSL1):c.1457C>T (p.Pro486Leu)
|
|
|
NM_015443.4(KANSL1):c.1460C>T (p.Pro487Leu)
|
|
|
NM_015443.4(KANSL1):c.1461C>T (p.Pro487=)
|
|
|
NM_015443.4(KANSL1):c.1463C>T (p.Pro488Leu)
|
|
|
NM_015443.4(KANSL1):c.1463dup (p.Glu489fs)
|
rs1555753569
|
|
NM_015443.4(KANSL1):c.1465G>A (p.Glu489Lys)
|
|
|
NM_015443.4(KANSL1):c.1479C>T (p.Asp493=)
|
|
|
NM_015443.4(KANSL1):c.1480T>C (p.Leu494=)
|
|
|
NM_015443.4(KANSL1):c.1480T>G (p.Leu494Val)
|
|
|
NM_015443.4(KANSL1):c.1482A>G (p.Leu494=)
|
|
|
NM_015443.4(KANSL1):c.1483T>C (p.Phe495Leu)
|
rs757581698
|
|
NM_015443.4(KANSL1):c.1485_1488del (p.Leu496fs)
|
|
|
NM_015443.4(KANSL1):c.1491A>C (p.Pro497=)
|
rs17576165
|
|
NM_015443.4(KANSL1):c.1491A>G (p.Pro497=)
|
rs17576165
|
|
NM_015443.4(KANSL1):c.149A>G (p.Lys50Arg)
|
|
|
NM_015443.4(KANSL1):c.1503G>A (p.Glu501=)
|
rs2146826764
|
|
NM_015443.4(KANSL1):c.1512A>G (p.Thr504=)
|
rs1483287405
|
|
NM_015443.4(KANSL1):c.1522A>T (p.Thr508Ser)
|
rs1598573095
|
|
NM_015443.4(KANSL1):c.1524T>C (p.Thr508=)
|
|
|
NM_015443.4(KANSL1):c.1525G>A (p.Asp509Asn)
|
|
|
NM_015443.4(KANSL1):c.1526A>G (p.Asp509Gly)
|
rs2146826344
|
|
NM_015443.4(KANSL1):c.1530A>G (p.Lys510=)
|
|
|
NM_015443.4(KANSL1):c.1531T>C (p.Leu511=)
|
|
|
NM_015443.4(KANSL1):c.1532del (p.Lys510_Leu511insTer)
|
rs886039733
|
|
NM_015443.4(KANSL1):c.1533+10A>G
|
|
|
NM_015443.4(KANSL1):c.1533+1G>A
|
|
|
NM_015443.4(KANSL1):c.1533+20A>G
|
|
|
NM_015443.4(KANSL1):c.1533+3A>G
|
rs1944843364
|
|
NM_015443.4(KANSL1):c.1533+7A>G
|
rs2079019657
|
|
NM_015443.4(KANSL1):c.1534-13T>C
|
|
|
NM_015443.4(KANSL1):c.1534-300CT[5]
|
rs144435729
|
|
NM_015443.4(KANSL1):c.1541C>T (p.Ser514Phe)
|
|
|
NM_015443.4(KANSL1):c.1543G>C (p.Val515Leu)
|
rs2078430687
|
|
NM_015443.4(KANSL1):c.1546T>A (p.Ser516Thr)
|
|
|
NM_015443.4(KANSL1):c.1563C>G (p.Asn521Lys)
|
rs886043787
|
|
NM_015443.4(KANSL1):c.1564C>T (p.His522Tyr)
|
rs1598530886
|
|
NM_015443.4(KANSL1):c.1568G>C (p.Gly523Ala)
|
rs1568411157
|
|
NM_015443.4(KANSL1):c.1568G>T (p.Gly523Val)
|
|
|
NM_015443.4(KANSL1):c.1569T>G (p.Gly523=)
|
|
|
NM_015443.4(KANSL1):c.1574= (p.Pro525=)
|
|
|
NM_015443.4(KANSL1):c.1576A>G (p.Ile526Val)
|
|
|
NM_015443.4(KANSL1):c.1576ATT[1] (p.Ile527del)
|
rs1418530749
|
|
NM_015443.4(KANSL1):c.1579A>G (p.Ile527Val)
|
|
|
NM_015443.4(KANSL1):c.1579_1582del (p.Ile527fs)
|
rs1057518182
|
|
NM_015443.4(KANSL1):c.1584T>C (p.Gly528=)
|
|
|
NM_015443.4(KANSL1):c.1586A>G (p.His529Arg)
|
rs2078428545
|
|
NM_015443.4(KANSL1):c.158C>G (p.Ala53Gly)
|
rs796052599
|
|
NM_015443.4(KANSL1):c.1599A>G (p.Ser533=)
|
rs1555746340
|
|
NM_015443.4(KANSL1):c.159C>T (p.Ala53=)
|
rs1350224468
|
|
NM_015443.4(KANSL1):c.15G>A (p.Ala5=)
|
rs1464957820
|
|
NM_015443.4(KANSL1):c.1600C>G (p.Leu534Val)
|
rs1385195592
|
|
NM_015443.4(KANSL1):c.1603T>C (p.Ser535Pro)
|
|
|
NM_015443.4(KANSL1):c.1605T>C (p.Ser535=)
|
rs200561483
|
|
NM_015443.4(KANSL1):c.1606A>G (p.Thr536Ala)
|
rs1057520967
|
|
NM_015443.4(KANSL1):c.1615T>C (p.Cys539Arg)
|
|
|
NM_015443.4(KANSL1):c.1616G>A (p.Cys539Tyr)
|
rs776741181
|
|
NM_015443.4(KANSL1):c.1621G>A (p.Ala541Thr)
|
|
|
NM_015443.4(KANSL1):c.1622C>A (p.Ala541Glu)
|
|
|
NM_015443.4(KANSL1):c.1625T>A (p.Leu542His)
|
rs796052593
|
|
NM_015443.4(KANSL1):c.1629A>T (p.Arg543Ser)
|
|
|
NM_015443.4(KANSL1):c.1633G>A (p.Val545Ile)
|
rs771191709
|
|
NM_015443.4(KANSL1):c.1637A>G (p.Asn546Ser)
|
|
|
NM_015443.4(KANSL1):c.1648A>G (p.Asn550Asp)
|
rs1555746270
|
|
NM_015443.4(KANSL1):c.164C>T (p.Ala55Val)
|
rs1213319847
|
|
NM_015443.4(KANSL1):c.1650C>T (p.Asn550=)
|
rs1057523989
|
|
NM_015443.4(KANSL1):c.1651dup (p.Thr551fs)
|
rs1057518010
|
|
NM_015443.4(KANSL1):c.1652+1G>A
|
rs281865470
|
|
NM_015443.4(KANSL1):c.1652C>G (p.Thr551Ser)
|
rs778178483
|
|
NM_015443.4(KANSL1):c.1653-10C>T
|
|
|
NM_015443.4(KANSL1):c.1653-12C>T
|
|
|
NM_015443.4(KANSL1):c.1653-3T>G
|
rs2146659159
|
|
NM_015443.4(KANSL1):c.1657_1658insTTGTAT (p.Gln553delinsLeuValTer)
|
rs2146659025
|
|
NM_015443.4(KANSL1):c.1672G>C (p.Asp558His)
|
rs796052594
|
|
NM_015443.4(KANSL1):c.1676A>G (p.His559Arg)
|
rs886053069
|
|
NM_015443.4(KANSL1):c.168A>G (p.Ala56=)
|
rs1567764859
|
|
NM_015443.4(KANSL1):c.1697A>T (p.Asp566Val)
|
rs2078390025
|
|
NM_015443.4(KANSL1):c.1700C>G (p.Ala567Gly)
|
|
|
NM_015443.4(KANSL1):c.1701T>C (p.Ala567=)
|
|
|
NM_015443.4(KANSL1):c.1707A>G (p.Glu569=)
|
rs2146658180
|
|
NM_015443.4(KANSL1):c.1714C>T (p.His572Tyr)
|
rs759587635
|
|
NM_015443.4(KANSL1):c.1715A>G (p.His572Arg)
|
|
|
NM_015443.4(KANSL1):c.1725dup (p.Arg576fs)
|
rs2078389049
|
|
NM_015443.4(KANSL1):c.1726C>T (p.Arg576Ter)
|
rs2146658002
|
|
NM_015443.4(KANSL1):c.1727G>T (p.Arg576Leu)
|
|
|
NM_015443.4(KANSL1):c.172G>A (p.Asp58Asn)
|
rs1412208533
|
|
NM_015443.4(KANSL1):c.1738G>C (p.Val580Leu)
|
rs117412152
|
|
NM_015443.4(KANSL1):c.1738G>T (p.Val580Phe)
|
|
|
NM_015443.4(KANSL1):c.1753G>C (p.Asp585His)
|
|
|
NM_015443.4(KANSL1):c.1755T>C (p.Asp585=)
|
|
|
NM_015443.4(KANSL1):c.1756G>A (p.Gly586Ser)
|
|
|
NM_015443.4(KANSL1):c.1760C>A (p.Thr587Asn)
|
rs2078387746
|
|
NM_015443.4(KANSL1):c.1765G>A (p.Val589Met)
|
rs1357621164
|
|
NM_015443.4(KANSL1):c.1765G>T (p.Val589Leu)
|
|
|
NM_015443.4(KANSL1):c.1768G>T (p.Ala590Ser)
|
|
|
NM_015443.4(KANSL1):c.1768_1769delinsAG (p.Ala590Arg)
|
rs2078387202
|
|
NM_015443.4(KANSL1):c.1771G>A (p.Ala591Thr)
|
|
|
NM_015443.4(KANSL1):c.1773C>G (p.Ala591=)
|
|
|
NM_015443.4(KANSL1):c.1774C>G (p.Arg592Gly)
|
rs774841964
|
|
NM_015443.4(KANSL1):c.1774C>T (p.Arg592Trp)
|
rs774841964
|
|
NM_015443.4(KANSL1):c.1775G>A (p.Arg592Gln)
|
|
|
NM_015443.4(KANSL1):c.1781G>C (p.Arg594Pro)
|
rs1057520691
|
|
NM_015443.4(KANSL1):c.1782T>C (p.Arg594=)
|
|
|
NM_015443.4(KANSL1):c.1796G>A (p.Cys599Tyr)
|
|
|
NM_015443.4(KANSL1):c.1799A>G (p.Lys600Arg)
|
|
|
NM_015443.4(KANSL1):c.1802dup (p.Arg602fs)
|
|
|
NM_015443.4(KANSL1):c.1816C>T (p.Arg606Ter)
|
rs281865469
|
|
NM_015443.4(KANSL1):c.1818A>G (p.Arg606=)
|
|
|
NM_015443.4(KANSL1):c.1830C>A (p.Ile610=)
|
rs150800846
|
|
NM_015443.4(KANSL1):c.1832T>C (p.Val611Ala)
|
|
|
NM_015443.4(KANSL1):c.1837C>G (p.Leu613Val)
|
|
|
NM_015443.4(KANSL1):c.1839T>C (p.Leu613=)
|
rs1598526728
|
|
NM_015443.4(KANSL1):c.1848+19T>C
|
|
|
NM_015443.4(KANSL1):c.1848+6T>C
|
|
|
NM_015443.4(KANSL1):c.1848+7A>G
|
rs2146655978
|
|
NM_015443.4(KANSL1):c.1848G>T (p.Lys616Asn)
|
rs1057520050
|
|
NM_015443.4(KANSL1):c.1849-110C>G
|
rs7208413
|
|
NM_015443.4(KANSL1):c.1849-11T>A
|
|
|
NM_015443.4(KANSL1):c.1849-11T>C
|
|
|
NM_015443.4(KANSL1):c.1849-14G>A
|
|
|
NM_015443.4(KANSL1):c.1849-18_1849-16del
|
rs2146486939
|
|
NM_015443.4(KANSL1):c.1849-26_1871del
|
rs2146486142
|
|
NM_015443.4(KANSL1):c.1849-3C>T
|
|
|
NM_015443.4(KANSL1):c.1849-4661_1895del
|
|
|
NM_015443.4(KANSL1):c.1849-4A>G
|
rs2146486779
|
|
NM_015443.4(KANSL1):c.1849-55T>G
|
rs12150447
|
|
NM_015443.4(KANSL1):c.1849-6T>A
|
rs545230619
|
|
NM_015443.4(KANSL1):c.1857G>C (p.Arg619=)
|
rs191986791
|
|
NM_015443.4(KANSL1):c.1857G>T (p.Arg619=)
|
rs191986791
|
|
NM_015443.4(KANSL1):c.1859A>C (p.Asn620Thr)
|
rs200979425
|
|
NM_015443.4(KANSL1):c.1861A>G (p.Ser621Gly)
|
|
|
NM_015443.4(KANSL1):c.1864A>T (p.Thr622Ser)
|
rs567178302
|
|
NM_015443.4(KANSL1):c.1867_1870del (p.Ile623fs)
|
rs281865472
|
|
NM_015443.4(KANSL1):c.1871G>A (p.Arg624His)
|
|
|
NM_015443.4(KANSL1):c.1887G>A (p.Val629=)
|
rs2146485926
|
|
NM_015443.4(KANSL1):c.1892C>G (p.Pro631Arg)
|
|
|
NM_015443.4(KANSL1):c.1909G>A (p.Gly637Ser)
|
rs752154509
|
|
NM_015443.4(KANSL1):c.190C>A (p.Arg64=)
|
rs762509401
|
|
NM_015443.4(KANSL1):c.190C>T (p.Arg64Ter)
|
|
|
NM_015443.4(KANSL1):c.1917C>G (p.Gly639=)
|
rs2146485476
|
|
NM_015443.4(KANSL1):c.1921A>G (p.Ile641Val)
|
rs2146485410
|
|
NM_015443.4(KANSL1):c.1930A>C (p.Met644Leu)
|
rs752955067
|
|
NM_015443.4(KANSL1):c.1933C>A (p.Pro645Thr)
|
|
|
NM_015443.4(KANSL1):c.1937C>T (p.Pro646Leu)
|
rs796052585
|
|
NM_015443.4(KANSL1):c.1939G>A (p.Glu647Lys)
|
|
|
NM_015443.4(KANSL1):c.1944dup (p.His649fs)
|
|
|
NM_015443.4(KANSL1):c.1949A>G (p.Tyr650Cys)
|
rs777228945
|
|
NM_015443.4(KANSL1):c.1957C>G (p.Pro653Ala)
|
|
|
NM_015443.4(KANSL1):c.1958dup (p.Leu654fs)
|
|
|
NM_015443.4(KANSL1):c.1962G>A (p.Leu654=)
|
|
|
NM_015443.4(KANSL1):c.1970G>A (p.Arg657His)
|
rs2077676783
|
|
NM_015443.4(KANSL1):c.1979A>G (p.Gln660Arg)
|
rs761226381
|
|
NM_015443.4(KANSL1):c.1986C>G (p.Asp662Glu)
|
rs2146484644
|
|
NM_015443.4(KANSL1):c.1990T>C (p.Cys664Arg)
|
rs2146484524
|
|
NM_015443.4(KANSL1):c.1991G>T (p.Cys664Phe)
|
|
|
NM_015443.4(KANSL1):c.1993G>A (p.Val665Ile)
|
rs1180495776
|
|
NM_015443.4(KANSL1):c.2002G>A (p.Val668Ile)
|
|
|
NM_015443.4(KANSL1):c.2014C>G (p.Pro672Ala)
|
rs1446402549
|
|
NM_015443.4(KANSL1):c.2016A>G (p.Pro672=)
|
|
|
NM_015443.4(KANSL1):c.2018A>G (p.Asp673Gly)
|
|
|
NM_015443.4(KANSL1):c.2020+17A>G
|
|
|
NM_015443.4(KANSL1):c.2020+18C>A
|
|
|
NM_015443.4(KANSL1):c.2020+19T>C
|
rs1030510609
|
|
NM_015443.4(KANSL1):c.2020+1G>A
|
|
|
NM_015443.4(KANSL1):c.2021-20G>A
|
|
|
NM_015443.4(KANSL1):c.2021-234A>C
|
rs138420167
|
|
NM_015443.4(KANSL1):c.2021-3C>T
|
rs2077262439
|
|
NM_015443.4(KANSL1):c.202A>G (p.Thr68Ala)
|
rs2046311790
|
|
NM_015443.4(KANSL1):c.2033G>A (p.Ser678Asn)
|
rs1555734253
|
|
NM_015443.4(KANSL1):c.2034C>G (p.Ser678Arg)
|
|
|
NM_015443.4(KANSL1):c.2035C>T (p.Leu679=)
|
|
|
NM_015443.4(KANSL1):c.2040T>G (p.His680Gln)
|
|
|
NM_015443.4(KANSL1):c.2050A>G (p.Met684Val)
|
|
|
NM_015443.4(KANSL1):c.2058A>G (p.Lys686=)
|
rs2146370677
|
|
NM_015443.4(KANSL1):c.2058del (p.Lys686fs)
|
rs1064793433
|
|
NM_015443.4(KANSL1):c.205A>G (p.Lys69Glu)
|
|
|
NM_015443.4(KANSL1):c.2078C>G (p.Pro693Arg)
|
rs754207638
|
|
NM_015443.4(KANSL1):c.2093A>G (p.Lys698Arg)
|
|
|
NM_015443.4(KANSL1):c.2095C>T (p.Pro699Ser)
|
rs1227525369
|
|
NM_015443.4(KANSL1):c.2104A>T (p.Lys702Ter)
|
|
|
NM_015443.4(KANSL1):c.2105del (p.Lys702fs)
|
rs2146370110
|
|
NM_015443.4(KANSL1):c.2109A>T (p.Leu703Phe)
|
rs34101027
|
|
NM_015443.4(KANSL1):c.2109dup (p.Ser704fs)
|
|
|
NM_015443.4(KANSL1):c.2115T>G (p.Leu705=)
|
rs769484238
|
|
NM_015443.4(KANSL1):c.2122A>G (p.Arg708Gly)
|
|
|
NM_015443.4(KANSL1):c.2125G>A (p.Ala709Thr)
|
rs796052586
|
|
NM_015443.4(KANSL1):c.2126C>G (p.Ala709Gly)
|
rs2077259076
|
|
NM_015443.4(KANSL1):c.2130del (p.Met711fs)
|
|
|
NM_015443.4(KANSL1):c.2131A>G (p.Met711Val)
|
|
|
NM_015443.4(KANSL1):c.2132dup (p.Met711fs)
|
rs1555734136
|
|
NM_015443.4(KANSL1):c.2139C>A (p.Gly713=)
|
rs1568375579
|
|
NM_015443.4(KANSL1):c.213C>T (p.Asp71=)
|
rs1041951554
|
|
NM_015443.4(KANSL1):c.2145G>A (p.Leu715=)
|
|
|
NM_015443.4(KANSL1):c.2150A>G (p.Asp717Gly)
|
rs2146369181
|
|
NM_015443.4(KANSL1):c.2155G>C (p.Ala719Pro)
|
|
|
NM_015443.4(KANSL1):c.2161A>G (p.Lys721Glu)
|
rs2146368894
|
|
NM_015443.4(KANSL1):c.2170C>T (p.His724Tyr)
|
|
|
NM_015443.4(KANSL1):c.2179G>A (p.Val727Ile)
|
|
|
NM_015443.4(KANSL1):c.2197A>G (p.Thr733Ala)
|
rs80026189
|
|
NM_015443.4(KANSL1):c.2202C>G (p.Ala734=)
|
rs1555734069
|
|
NM_015443.4(KANSL1):c.2203+12G>C
|
|
|
NM_015443.4(KANSL1):c.2203+1G>A
|
rs796052595
|
|
NM_015443.4(KANSL1):c.2203+225G>T
|
rs16940845
|
|
NM_015443.4(KANSL1):c.2203+7_2203+8del
|
|
|
NM_015443.4(KANSL1):c.2204-10C>T
|
|
|
NM_015443.4(KANSL1):c.2204-11C>T
|
|
|
NM_015443.4(KANSL1):c.2204-15T>C
|
|
|
NM_015443.4(KANSL1):c.2204-8C>G
|
|
|
NM_015443.4(KANSL1):c.2204-8C>T
|
rs2077241144
|
|
NM_015443.4(KANSL1):c.2205G>C (p.Lys735Asn)
|
rs2146364480
|
|
NM_015443.4(KANSL1):c.2206C>G (p.Leu736Val)
|
rs1568374912
|
|
NM_015443.4(KANSL1):c.2210C>T (p.Ser737Phe)
|
rs2077240690
|
|
NM_015443.4(KANSL1):c.2220A>G (p.Gln740=)
|
|
|
NM_015443.4(KANSL1):c.2223C>A (p.Thr741=)
|
rs781504422
|
|
NM_015443.4(KANSL1):c.2225G>C (p.Arg742Pro)
|
|
|
NM_015443.4(KANSL1):c.2232C>T (p.Asp744=)
|
|
|
NM_015443.4(KANSL1):c.2233A>G (p.Arg745Gly)
|
rs796052596
|
|
NM_015443.4(KANSL1):c.2235G>C (p.Arg745Ser)
|
rs995942850
|
|
NM_015443.4(KANSL1):c.2236A>T (p.Thr746Ser)
|
|
|
NM_015443.4(KANSL1):c.2242A>G (p.Arg748Gly)
|
|
|
NM_015443.4(KANSL1):c.2251T>G (p.Leu751Val)
|
|
|
NM_015443.4(KANSL1):c.2255A>G (p.Asp752Gly)
|
rs2077238889
|
|
NM_015443.4(KANSL1):c.2256C>T (p.Asp752=)
|
rs760224197
|
|
NM_015443.4(KANSL1):c.2265G>A (p.Gly755=)
|
rs1291797978
|
|
NM_015443.4(KANSL1):c.2265G>T (p.Gly755=)
|
|
|
NM_015443.4(KANSL1):c.2271G>A (p.Val757=)
|
rs1598456648
|
|
NM_015443.4(KANSL1):c.2275A>C (p.Met759Leu)
|
|
|
NM_015443.4(KANSL1):c.2280G>A (p.Val760=)
|
|
|
NM_015443.4(KANSL1):c.2284C>G (p.Arg762Gly)
|
|
|
NM_015443.4(KANSL1):c.2284C>T (p.Arg762Ter)
|
rs2146363405
|
|
NM_015443.4(KANSL1):c.2285G>A (p.Arg762Gln)
|
rs746084966
|
|
NM_015443.4(KANSL1):c.2287G>A (p.Val763Met)
|
rs781594360
|
|
NM_015443.4(KANSL1):c.2287G>T (p.Val763Leu)
|
rs781594360
|
|
NM_015443.4(KANSL1):c.22C>G (p.Leu8Val)
|
rs2046320616
|
|
NM_015443.4(KANSL1):c.2311_2323delinsATG (p.Leu771fs)
|
rs1064796433
|
|
NM_015443.4(KANSL1):c.2313G>A (p.Leu771=)
|
rs2146363069
|
|
NM_015443.4(KANSL1):c.2318A>G (p.Asn773Ser)
|
rs2077235740
|
|
NM_015443.4(KANSL1):c.2321C>T (p.Pro774Leu)
|
|
|
NM_015443.4(KANSL1):c.2323C>T (p.Pro775Ser)
|
|
|
NM_015443.4(KANSL1):c.2324C>G (p.Pro775Arg)
|
rs796052587
|
|
NM_015443.4(KANSL1):c.2330C>T (p.Pro777Leu)
|
rs904766735
|
|
NM_015443.4(KANSL1):c.2332G>C (p.Val778Leu)
|
rs1472029797
|
|
NM_015443.4(KANSL1):c.2342del (p.Pro781fs)
|
|
|
NM_015443.4(KANSL1):c.2344A>C (p.Asn782His)
|
|
|
NM_015443.4(KANSL1):c.2345del (p.Asn782fs)
|
|
|
NM_015443.4(KANSL1):c.2363T>G (p.Leu788Trp)
|
|
|
NM_015443.4(KANSL1):c.2364G>A (p.Leu788=)
|
|
|
NM_015443.4(KANSL1):c.2366G>A (p.Arg789Gln)
|
|
|
NM_015443.4(KANSL1):c.2371C>A (p.His791Asn)
|
rs1057523108
|
|
NM_015443.4(KANSL1):c.2377T>A (p.Ser793Thr)
|
rs2077233312
|
|
NM_015443.4(KANSL1):c.2379T>C (p.Ser793=)
|
|
|
NM_015443.4(KANSL1):c.2391A>C (p.Glu797Asp)
|
|
|
NM_015443.4(KANSL1):c.2392+12C>T
|
rs2146361888
|
|
NM_015443.4(KANSL1):c.2392+15A>G
|
rs769760161
|
|
NM_015443.4(KANSL1):c.2392+15A>T
|
|
|
NM_015443.4(KANSL1):c.2392+19C>T
|
|
|
NM_015443.4(KANSL1):c.2392+3A>T
|
rs1568374384
|
|
NM_015443.4(KANSL1):c.2392_2392+1dup
|
|
|
NM_015443.4(KANSL1):c.2393-14G>C
|
|
|
NM_015443.4(KANSL1):c.2393-20T>A
|
rs2077224569
|
|
NM_015443.4(KANSL1):c.2393-23_2393-20del
|
|
|
NM_015443.4(KANSL1):c.2393-4G>A
|
|
|
NM_015443.4(KANSL1):c.2393-9C>A
|
rs1004017370
|
|
NM_015443.4(KANSL1):c.2401C>A (p.His801Asn)
|
rs1057520851
|
|
NM_015443.4(KANSL1):c.2420G>C (p.Ser807Thr)
|
rs1317184946
|
|
NM_015443.4(KANSL1):c.2423C>T (p.Ser808Leu)
|
rs372105810
|
|
NM_015443.4(KANSL1):c.2444A>G (p.His815Arg)
|
rs2077222371
|
|
NM_015443.4(KANSL1):c.2446C>T (p.His816Tyr)
|
rs1385276351
|
|
NM_015443.4(KANSL1):c.2447A>G (p.His816Arg)
|
rs2077222127
|
|
NM_015443.4(KANSL1):c.2450C>G (p.Pro817Arg)
|
rs200086055
|
|
NM_015443.4(KANSL1):c.2454A>G (p.Pro818=)
|
rs2146358617
|
|
NM_015443.4(KANSL1):c.2455C>G (p.His819Asp)
|
rs758071565
|
|
NM_015443.4(KANSL1):c.2458A>G (p.Ser820Gly)
|
|
|
NM_015443.4(KANSL1):c.2462C>T (p.Pro821Leu)
|
rs1411153399
|
|
NM_015443.4(KANSL1):c.246T>A (p.Tyr82Ter)
|
rs779137465
|
|
NM_015443.4(KANSL1):c.2470C>T (p.Arg824Ter)
|
rs2077221203
|
|
NM_015443.4(KANSL1):c.2476C>G (p.Leu826Val)
|
|
|
NM_015443.4(KANSL1):c.2478C>G (p.Leu826=)
|
|
|
NM_015443.4(KANSL1):c.2483C>T (p.Thr828Ile)
|
rs2077220546
|
|
NM_015443.4(KANSL1):c.2484CTC[1] (p.Ser830del)
|
rs1568373517
|
|
NM_015443.4(KANSL1):c.2493T>G (p.Asp831Glu)
|
rs1457193430
|
|
NM_015443.4(KANSL1):c.2495C>A (p.Ser832Tyr)
|
|
|
NM_015443.4(KANSL1):c.2497C>T (p.Pro833Ser)
|
rs2146357893
|
|
NM_015443.4(KANSL1):c.249C>G (p.Leu83=)
|
rs768816086
|
|
NM_015443.4(KANSL1):c.2502A>G (p.Ala834=)
|
rs749802464
|
|
NM_015443.4(KANSL1):c.2503C>T (p.Pro835Ser)
|
rs1555733519
|
|
NM_015443.4(KANSL1):c.2504C>T (p.Pro835Leu)
|
|
|
NM_015443.4(KANSL1):c.2510G>T (p.Ser837Ile)
|
rs770500282
|
|
NM_015443.4(KANSL1):c.2514_2519dup (p.Ser840_Gln841insSerSer)
|
|
|
NM_015443.4(KANSL1):c.2519C>A (p.Ser840Ter)
|
|
|
NM_015443.4(KANSL1):c.2523G>C (p.Gln841His)
|
|
|
NM_015443.4(KANSL1):c.2524G>A (p.Val842Ile)
|
rs758243969
|
|
NM_015443.4(KANSL1):c.2534G>A (p.Ser845Asn)
|
rs796052597
|
|
NM_015443.4(KANSL1):c.2536A>G (p.Thr846Ala)
|
|
|
NM_015443.4(KANSL1):c.2537C>T (p.Thr846Ile)
|
|
|
NM_015443.4(KANSL1):c.2540C>T (p.Ser847Leu)
|
|
|
NM_015443.4(KANSL1):c.2541+11G>C
|
|
|
NM_015443.4(KANSL1):c.2541+157A>C
|
|
|
NM_015443.4(KANSL1):c.2541+18G>A
|
rs12150090
|
|
NM_015443.4(KANSL1):c.2541+18G>C
|
|
|
NM_015443.4(KANSL1):c.2541+24C>G
|
rs141409854
|
|
NM_015443.4(KANSL1):c.2541G>C (p.Ser847=)
|
|
|
NM_015443.4(KANSL1):c.2542-1G>A
|
rs111514883
|
|
NM_015443.4(KANSL1):c.2542-2A>G
|
rs2077089395
|
|
NM_015443.4(KANSL1):c.2542-3C>T
|
|
|
NM_015443.4(KANSL1):c.2542-4A>G
|
|
|
NM_015443.4(KANSL1):c.2542-4dup
|
|
|
NM_015443.4(KANSL1):c.2554A>C (p.Arg852=)
|
rs2146325132
|
|
NM_015443.4(KANSL1):c.2569G>A (p.Glu857Lys)
|
rs2146325036
|
|
NM_015443.4(KANSL1):c.2579_2580delinsGC (p.Phe860Cys)
|
|
|
NM_015443.4(KANSL1):c.2589C>T (p.Asn863=)
|
rs1555731788
|
|
NM_015443.4(KANSL1):c.2591A>G (p.Asn864Ser)
|
|
|
NM_015443.4(KANSL1):c.2591del (p.Asn864fs)
|
rs2077088526
|
|
NM_015443.4(KANSL1):c.2611G>A (p.Val871Ile)
|
|
|
NM_015443.4(KANSL1):c.2620A>G (p.Thr874Ala)
|
|
|
NM_015443.4(KANSL1):c.2628C>A (p.Arg876=)
|
|
|
NM_015443.4(KANSL1):c.2631A>G (p.Val877=)
|
|
|
NM_015443.4(KANSL1):c.2640G>T (p.Leu880=)
|
|
|
NM_015443.4(KANSL1):c.2648A>G (p.Lys883Arg)
|
|
|
NM_015443.4(KANSL1):c.264A>G (p.Thr88=)
|
rs1057520987
|
|
NM_015443.4(KANSL1):c.2658T>G (p.Leu886=)
|
rs2146324506
|
|
NM_015443.4(KANSL1):c.2660C>A (p.Thr887Lys)
|
|
|
NM_015443.4(KANSL1):c.2660C>T (p.Thr887Met)
|
|
|
NM_015443.4(KANSL1):c.2661G>A (p.Thr887=)
|
rs769682055
|
|
NM_015443.4(KANSL1):c.2661G>T (p.Thr887=)
|
rs769682055
|
|
NM_015443.4(KANSL1):c.2664del (p.Ser889fs)
|
|
|
NM_015443.4(KANSL1):c.2666+13A>T
|
|
|
NM_015443.4(KANSL1):c.2666+15T>G
|
|
|
NM_015443.4(KANSL1):c.2666+17G>A
|
rs1244064287
|
|
NM_015443.4(KANSL1):c.2666+3A>G
|
rs2146324420
|
|
NM_015443.4(KANSL1):c.2666+7G>A
|
|
|
NM_015443.4(KANSL1):c.2667-1G>A
|
rs2077066926
|
|
NM_015443.4(KANSL1):c.2667-3C>T
|
rs766948021
|
|
NM_015443.4(KANSL1):c.2667-4dup
|
rs2077067052
|
|
NM_015443.4(KANSL1):c.266C>T (p.Ser89Phe)
|
rs1057520835
|
|
NM_015443.4(KANSL1):c.2673G>A (p.Arg891=)
|
rs2146318945
|
|
NM_015443.4(KANSL1):c.2677G>T (p.Val893Phe)
|
|
|
NM_015443.4(KANSL1):c.2680G>A (p.Asp894Asn)
|
|
|
NM_015443.4(KANSL1):c.2683C>G (p.Leu895Val)
|
rs555819683
|
|
NM_015443.4(KANSL1):c.2685T>G (p.Leu895=)
|
|
|
NM_015443.4(KANSL1):c.2692C>T (p.Leu898=)
|
|
|
NM_015443.4(KANSL1):c.2692_2693del (p.Leu898fs)
|
rs2077066093
|
|
NM_015443.4(KANSL1):c.2694G>A (p.Leu898=)
|
rs2146318637
|
|
NM_015443.4(KANSL1):c.2695A>T (p.Lys899Ter)
|
|
|
NM_015443.4(KANSL1):c.2705C>G (p.Pro902Arg)
|
|
|
NM_015443.4(KANSL1):c.2710GAG[1] (p.Glu905del)
|
rs551968687
|
|
NM_015443.4(KANSL1):c.271C>T (p.Pro91Ser)
|
|
|
NM_015443.4(KANSL1):c.2720A>T (p.Glu907Val)
|
rs2146318320
|
|
NM_015443.4(KANSL1):c.2722G>A (p.Glu908Lys)
|
rs2146318272
|
|
NM_015443.4(KANSL1):c.2724+14T>G
|
|
|
NM_015443.4(KANSL1):c.2724+5T>G
|
rs1327945886
|
|
NM_015443.4(KANSL1):c.2724+8C>T
|
rs202001253
|
|
NM_015443.4(KANSL1):c.2725-15G>C
|
|
|
NM_015443.4(KANSL1):c.2725-15G>T
|
|
|
NM_015443.4(KANSL1):c.2725-9C>T
|
|
|
NM_015443.4(KANSL1):c.2733C>T (p.Asp911=)
|
|
|
NM_015443.4(KANSL1):c.2740G>A (p.Asp914Asn)
|
|
|
NM_015443.4(KANSL1):c.2747C>G (p.Ala916Gly)
|
|
|
NM_015443.4(KANSL1):c.2749T>G (p.Phe917Val)
|
|
|
NM_015443.4(KANSL1):c.2752G>A (p.Ala918Thr)
|
|
|
NM_015443.4(KANSL1):c.2752G>T (p.Ala918Ser)
|
rs752325882
|
|
NM_015443.4(KANSL1):c.2752GCC[3] (p.Ala919_Leu920insAla)
|
|
|
NM_015443.4(KANSL1):c.2762A>G (p.His921Arg)
|
rs1555731275
|
|
NM_015443.4(KANSL1):c.2768A>G (p.Lys923Arg)
|
rs1555731268
|
|
NM_015443.4(KANSL1):c.2772_2776del (p.Cys924_Glu926delinsTer)
|
|
|
NM_015443.4(KANSL1):c.2785_2786del (p.Arg929fs)
|
rs281865471
|
|
NM_015443.4(KANSL1):c.2786G>A (p.Arg929Lys)
|
|
|
NM_015443.4(KANSL1):c.2790A>G (p.Ala930=)
|
|
|
NM_015443.4(KANSL1):c.2797C>T (p.Leu933=)
|
|
|
NM_015443.4(KANSL1):c.2816C>T (p.Pro939Leu)
|
|
|
NM_015443.4(KANSL1):c.2821del (p.Gln941fs)
|
rs2146314756
|
|
NM_015443.4(KANSL1):c.2825G>A (p.Arg942Gln)
|
rs2146314710
|
|
NM_015443.4(KANSL1):c.2827C>T (p.Arg943Trp)
|
|
|
NM_015443.4(KANSL1):c.2828G>A (p.Arg943Gln)
|
|
|
NM_015443.4(KANSL1):c.2830_2837+13del
|
rs1064796289
|
|
NM_015443.4(KANSL1):c.2831dup (p.Ser945fs)
|
rs2146314563
|
|
NM_015443.4(KANSL1):c.2836A>G (p.Arg946Gly)
|
rs2146314496
|
|
NM_015443.4(KANSL1):c.2837+1G>A
|
rs2077054270
|
|
NM_015443.4(KANSL1):c.2837+20T>C
|
|
|
NM_015443.4(KANSL1):c.2837+2T>C
|
rs975947508
|
|
NM_015443.4(KANSL1):c.2837+7G>T
|
rs780476310
|
|
NM_015443.4(KANSL1):c.2838-18G>C
|
|
|
NM_015443.4(KANSL1):c.2838-3C>T
|
|
|
NM_015443.4(KANSL1):c.2838-6G>T
|
rs1555730956
|
|
NM_015443.4(KANSL1):c.2838-8G>A
|
rs1355646117
|
|
NM_015443.4(KANSL1):c.2838-8G>T
|
rs1355646117
|
|
NM_015443.4(KANSL1):c.2841C>G (p.Ser947=)
|
|
|
NM_015443.4(KANSL1):c.2843A>G (p.Tyr948Cys)
|
|
|
NM_015443.4(KANSL1):c.2850A>G (p.Ser950=)
|
|
|
NM_015443.4(KANSL1):c.2856C>A (p.Asp952Glu)
|
rs1431158114
|
|
NM_015443.4(KANSL1):c.2857G>A (p.Gly953Ser)
|
|
|
NM_015443.4(KANSL1):c.2872C>G (p.Gln958Glu)
|
|
|
NM_015443.4(KANSL1):c.2874G>A (p.Gln958=)
|
rs1010687863
|
|
NM_015443.4(KANSL1):c.2877G>T (p.Leu959=)
|
rs2146308107
|
|
NM_015443.4(KANSL1):c.2889C>G (p.Asn963Lys)
|
|
|
NM_015443.4(KANSL1):c.2889C>T (p.Asn963=)
|
|
|
NM_015443.4(KANSL1):c.2890C>T (p.Pro964Ser)
|
|
|
NM_015443.4(KANSL1):c.2893T>C (p.Ser965Pro)
|
rs1291308469
|
|
NM_015443.4(KANSL1):c.2894C>G (p.Ser965Cys)
|
|
|
NM_015443.4(KANSL1):c.2900C>T (p.Pro967Leu)
|
rs770177501
|
|
NM_015443.4(KANSL1):c.2901C>A (p.Pro967=)
|
|
|
NM_015443.4(KANSL1):c.2902C>T (p.Gln968Ter)
|
rs2077030838
|
|
NM_015443.4(KANSL1):c.2902del (p.Gln968fs)
|
rs1374665357
|
|
NM_015443.4(KANSL1):c.2902dup (p.Gln968fs)
|
rs1374665357
|
|
NM_015443.4(KANSL1):c.2906C>G (p.Pro969Arg)
|
rs2077030679
|
|
NM_015443.4(KANSL1):c.2910C>G (p.Ala970=)
|
|
|
NM_015443.4(KANSL1):c.2916T>C (p.Pro972=)
|
|
|
NM_015443.4(KANSL1):c.2919T>C (p.Asp973=)
|
|
|
NM_015443.4(KANSL1):c.2931C>T (p.Ser977=)
|
rs2146307222
|
|
NM_015443.4(KANSL1):c.2938_2939del (p.Leu980fs)
|
rs1568366050
|
|
NM_015443.4(KANSL1):c.2940G>C (p.Leu980Phe)
|
|
|
NM_015443.4(KANSL1):c.2941T>C (p.Ser981Pro)
|
|
|
NM_015443.4(KANSL1):c.2951C>A (p.Ser984Tyr)
|
rs796052588
|
|
NM_015443.4(KANSL1):c.2952C>G (p.Ser984=)
|
|
|
NM_015443.4(KANSL1):c.2956G>A (p.Gly986Ser)
|
rs2146306880
|
|
NM_015443.4(KANSL1):c.2956_2957del (p.Gly986fs)
|
rs1598441446
|
|
NM_015443.4(KANSL1):c.2957G>C (p.Gly986Ala)
|
|
|
NM_015443.4(KANSL1):c.2958T>C (p.Gly986=)
|
rs767403167
|
|
NM_015443.4(KANSL1):c.295C>T (p.Gln99Ter)
|
rs2147749507
|
|
NM_015443.4(KANSL1):c.2963C>A (p.Ser988Tyr)
|
|
|
NM_015443.4(KANSL1):c.2966C>G (p.Pro989Arg)
|
|
|
NM_015443.4(KANSL1):c.2980A>G (p.Ser994Gly)
|
|
|
NM_015443.4(KANSL1):c.2981G>T (p.Ser994Ile)
|
rs2146306637
|
|
NM_015443.4(KANSL1):c.298G>C (p.Gly100Arg)
|
rs766155678
|
|
NM_015443.4(KANSL1):c.2993A>G (p.His998Arg)
|
|
|
NM_015443.4(KANSL1):c.2994C>T (p.His998=)
|
rs1555730816
|
|
NM_015443.4(KANSL1):c.2998G>A (p.Ala1000Thr)
|
|
|
NM_015443.4(KANSL1):c.3003C>T (p.Pro1001=)
|
|
|
NM_015443.4(KANSL1):c.3004C>T (p.Leu1002Phe)
|
|
|
NM_015443.4(KANSL1):c.300G>A (p.Gly100=)
|
rs2147749359
|
|
NM_015443.4(KANSL1):c.3011del (p.Pro1004fs)
|
rs2146306274
|
|
NM_015443.4(KANSL1):c.301G>A (p.Val101Ile)
|
rs760506954
|
|
NM_015443.4(KANSL1):c.3028C>G (p.Pro1010Ala)
|
|
|
NM_015443.4(KANSL1):c.3031C>T (p.Arg1011Ter)
|
rs779686052
|
|
NM_015443.4(KANSL1):c.3035A>G (p.His1012Arg)
|
rs1057522732
|
|
NM_015443.4(KANSL1):c.3043A>G (p.Ser1015Gly)
|
|
|
NM_015443.4(KANSL1):c.3049dup (p.Asp1017fs)
|
rs2077025601
|
|
NM_015443.4(KANSL1):c.3050A>C (p.Asp1017Ala)
|
rs1568365844
|
|
NM_015443.4(KANSL1):c.3053C>A (p.Thr1018Asn)
|
rs145863194
|
|
NM_015443.4(KANSL1):c.3054C>T (p.Thr1018=)
|
rs2077025335
|
|
NM_015443.4(KANSL1):c.3057T>C (p.Arg1019=)
|
rs1598441174
|
|
NM_015443.4(KANSL1):c.3063C>T (p.Ser1021=)
|
|
|
NM_015443.4(KANSL1):c.3064A>G (p.Thr1022Ala)
|
rs1269773544
|
|
NM_015443.4(KANSL1):c.3068C>T (p.Pro1023Leu)
|
|
|
NM_015443.4(KANSL1):c.3078G>A (p.Gly1026=)
|
|
|
NM_015443.4(KANSL1):c.3079C>A (p.Leu1027Met)
|
rs1202646378
|
|
NM_015443.4(KANSL1):c.3091-167C>T
|
rs117568760
|
|
NM_015443.4(KANSL1):c.3091-7C>T
|
rs2146302270
|
|
NM_015443.4(KANSL1):c.3094G>T (p.Val1032Phe)
|
rs767917046
|
|
NM_015443.4(KANSL1):c.3105G>C (p.Trp1035Cys)
|
rs2146302096
|
|
NM_015443.4(KANSL1):c.3109C>T (p.Arg1037Trp)
|
|
|
NM_015443.4(KANSL1):c.3123C>T (p.Pro1041=)
|
|
|
NM_015443.4(KANSL1):c.3125del (p.Leu1042fs)
|
rs797045049
|
|
NM_015443.4(KANSL1):c.3135T>C (p.Ser1045=)
|
|
|
NM_015443.4(KANSL1):c.3141G>C (p.Gln1047His)
|
rs796052589
|
|
NM_015443.4(KANSL1):c.3141G>T (p.Gln1047His)
|
|
|
NM_015443.4(KANSL1):c.3144G>A (p.Ala1048=)
|
|
|
NM_015443.4(KANSL1):c.3144G>C (p.Ala1048=)
|
rs746504988
|
|
NM_015443.4(KANSL1):c.3146A>T (p.Glu1049Val)
|
rs771796347
|
|
NM_015443.4(KANSL1):c.3148T>C (p.Cys1050Arg)
|
rs796052590
|
|
NM_015443.4(KANSL1):c.3151G>A (p.Glu1051Lys)
|
|
|
NM_015443.4(KANSL1):c.3155A>T (p.Asp1052Val)
|
|
|
NM_015443.4(KANSL1):c.3158A>G (p.Gln1053Arg)
|
rs1057523651
|
|
NM_015443.4(KANSL1):c.315G>A (p.Gln105=)
|
rs761904417
|
|
NM_015443.4(KANSL1):c.315G>T (p.Gln105His)
|
rs761904417
|
|
NM_015443.4(KANSL1):c.3162G>T (p.Leu1054=)
|
|
|
NM_015443.4(KANSL1):c.3164A>G (p.Asp1055Gly)
|
|
|
NM_015443.4(KANSL1):c.3168A>G (p.Ala1056=)
|
|
|
NM_015443.4(KANSL1):c.3169C>G (p.Gln1057Glu)
|
|
|
NM_015443.4(KANSL1):c.3172G>T (p.Glu1058Ter)
|
|
|
NM_015443.4(KANSL1):c.3175C>G (p.Arg1059Gly)
|
rs2077009798
|
|
NM_015443.4(KANSL1):c.3176G>A (p.Arg1059Gln)
|
|
|
NM_015443.4(KANSL1):c.3184C>T (p.Arg1062Cys)
|
rs2077009434
|
|
NM_015443.4(KANSL1):c.3193C>G (p.Arg1065Gly)
|
rs2146300587
|
|
NM_015443.4(KANSL1):c.3193C>T (p.Arg1065Ter)
|
rs2146300587
|
|
NM_015443.4(KANSL1):c.3215C>T (p.Thr1072Ile)
|
rs1057520993
|
|
NM_015443.4(KANSL1):c.3220C>T (p.Arg1074Trp)
|
|
|
NM_015443.4(KANSL1):c.3235G>A (p.Ala1079Thr)
|
rs1001573190
|
|
NM_015443.4(KANSL1):c.3237G>A (p.Ala1079=)
|
|
|
NM_015443.4(KANSL1):c.3237G>T (p.Ala1079=)
|
rs747976314
|
|
NM_015443.4(KANSL1):c.3242C>G (p.Thr1081Ser)
|
rs2146299866
|
|
NM_015443.4(KANSL1):c.3258C>A (p.Val1086=)
|
|
|
NM_015443.4(KANSL1):c.3259C>G (p.Pro1087Ala)
|
|
|
NM_015443.4(KANSL1):c.3262C>T (p.Leu1088Phe)
|
|
|
NM_015443.4(KANSL1):c.3266A>G (p.Lys1089Arg)
|
rs1568364868
|
|
NM_015443.4(KANSL1):c.3271C>T (p.Arg1091Trp)
|
|
|
NM_015443.4(KANSL1):c.3279G>A (p.Leu1093=)
|
rs1404523701
|
|
NM_015443.4(KANSL1):c.327A>G (p.Lys109=)
|
rs749575109
|
|
NM_015443.4(KANSL1):c.3287C>G (p.Ala1096Gly)
|
|
|
NM_015443.4(KANSL1):c.3287C>T (p.Ala1096Val)
|
|
|
NM_015443.4(KANSL1):c.3289G>C (p.Ala1097Pro)
|
rs2077005160
|
|
NM_015443.4(KANSL1):c.3294A>T (p.Thr1098=)
|
rs2077004818
|
|
NM_015443.4(KANSL1):c.3295G>C (p.Ala1099Pro)
|
|
|
NM_015443.4(KANSL1):c.3296C>T (p.Ala1099Val)
|
|
|
NM_015443.4(KANSL1):c.3298C>G (p.Gln1100Glu)
|
rs796052598
|
|
NM_015443.4(KANSL1):c.3300G>A (p.Gln1100=)
|
|
|
NM_015443.4(KANSL1):c.3301C>T (p.Arg1101Cys)
|
|
|
NM_015443.4(KANSL1):c.3302G>A (p.Arg1101His)
|
|
|
NM_015443.4(KANSL1):c.3302dup (p.Thr1103fs)
|
|
|
NM_015443.4(KANSL1):c.3305C>A (p.Pro1102Gln)
|
|
|
NM_015443.4(KANSL1):c.3312C>G (p.His1104Gln)
|
|
|
NM_015443.4(KANSL1):c.3312_3313del (p.His1104fs)
|
rs761370843
|
|
NM_015443.4(KANSL1):c.3313A>G (p.Arg1105Gly)
|
|
|
NM_015443.4(KANSL1):c.346C>A (p.Gln116Lys)
|
|
|
NM_015443.4(KANSL1):c.348G>C (p.Gln116His)
|
|
|
NM_015443.4(KANSL1):c.360C>A (p.Leu120=)
|
rs2046304883
|
|
NM_015443.4(KANSL1):c.361C>G (p.Arg121Gly)
|
rs868719408
|
|
NM_015443.4(KANSL1):c.372G>T (p.Leu124=)
|
rs778607325
|
|
NM_015443.4(KANSL1):c.37G>A (p.Ala13Thr)
|
rs528026295
|
|
NM_015443.4(KANSL1):c.385C>T (p.Pro129Ser)
|
|
|
NM_015443.4(KANSL1):c.388G>A (p.Val130Ile)
|
rs766000368
|
|
NM_015443.4(KANSL1):c.392T>G (p.Leu131Trp)
|
rs1486873707
|
|
NM_015443.4(KANSL1):c.399_400insAAT (p.Phe133_Ser134insAsn)
|
rs770503769
|
|
NM_015443.4(KANSL1):c.403T>G (p.Leu135Val)
|
rs1064797226
|
|
NM_015443.4(KANSL1):c.421A>G (p.Met141Val)
|
|
|
NM_015443.4(KANSL1):c.429G>C (p.Thr143=)
|
rs1415127228
|
|
NM_015443.4(KANSL1):c.431G>C (p.Ser144Thr)
|
rs886053070
|
|
NM_015443.4(KANSL1):c.449del (p.Pro150fs)
|
rs1567764119
|
|
NM_015443.4(KANSL1):c.44C>T (p.Ala15Val)
|
rs2046319479
|
|
NM_015443.4(KANSL1):c.452A>G (p.Gln151Arg)
|
rs796052600
|
|
NM_015443.4(KANSL1):c.468G>A (p.Gly156=)
|
rs150877831
|
|
NM_015443.4(KANSL1):c.487A>G (p.Lys163Glu)
|
|
|
NM_015443.4(KANSL1):c.494C>T (p.Ser165Leu)
|
rs747586763
|
|
NM_015443.4(KANSL1):c.494del (p.Ser164_Ser165insTer)
|
rs2046298627
|
|
NM_015443.4(KANSL1):c.500A>C (p.His167Pro)
|
rs779594202
|
|
NM_015443.4(KANSL1):c.501_511dup (p.Asp171fs)
|
rs2147746137
|
|
NM_015443.4(KANSL1):c.509A>G (p.His170Arg)
|
rs1038293188
|
|
NM_015443.4(KANSL1):c.515A>T (p.Asn172Ile)
|
rs942182430
|
|
NM_015443.4(KANSL1):c.517_518delinsAT (p.Ser173Ile)
|
rs2046297678
|
|
NM_015443.4(KANSL1):c.523T>C (p.Ser175Pro)
|
rs757028302
|
|
NM_015443.4(KANSL1):c.526C>T (p.Leu176Phe)
|
rs2046296742
|
|
NM_015443.4(KANSL1):c.528C>T (p.Leu176=)
|
|
|
NM_015443.4(KANSL1):c.529A>G (p.Asn177Asp)
|
|
|
NM_015443.4(KANSL1):c.530A>G (p.Asn177Ser)
|
rs765213873
|
|
NM_015443.4(KANSL1):c.531_540del (p.Gly179fs)
|
rs1567763809
|
|
NM_015443.4(KANSL1):c.536G>A (p.Gly179Glu)
|
rs2046295807
|
|
NM_015443.4(KANSL1):c.536_537dup (p.Lys180fs)
|
rs1064794038
|
|
NM_015443.4(KANSL1):c.53T>C (p.Ile18Thr)
|
rs1060502198
|
|
NM_015443.4(KANSL1):c.540del (p.Lys180fs)
|
rs1597874008
|
|
NM_015443.4(KANSL1):c.543G>T (p.Arg181=)
|
rs2147745276
|
|
NM_015443.4(KANSL1):c.552T>C (p.Thr184=)
|
rs772655276
|
|
NM_015443.4(KANSL1):c.55C>T (p.Arg19Trp)
|
rs2046318820
|
|
NM_015443.4(KANSL1):c.566A>T (p.His189Leu)
|
rs779655554
|
|
NM_015443.4(KANSL1):c.568G>T (p.Gly190Trp)
|
rs2046293564
|
|
NM_015443.4(KANSL1):c.570G>A (p.Gly190=)
|
rs1365962710
|
|
NM_015443.4(KANSL1):c.572del (p.Gly191fs)
|
rs1555575816
|
|
NM_015443.4(KANSL1):c.577A>G (p.Met193Val)
|
rs2147744657
|
|
NM_015443.4(KANSL1):c.578T>C (p.Met193Thr)
|
rs2147744627
|
|
NM_015443.4(KANSL1):c.584G>A (p.Gly195Glu)
|
rs757048501
|
|
NM_015443.4(KANSL1):c.607G>A (p.Gly203Arg)
|
rs138175526
|
|
NM_015443.4(KANSL1):c.607G>T (p.Gly203Trp)
|
rs138175526
|
|
NM_015443.4(KANSL1):c.608G>C (p.Gly203Ala)
|
rs759522694
|
|
NM_015443.4(KANSL1):c.608_611dup (p.Met205fs)
|
rs1304078301
|
|
NM_015443.4(KANSL1):c.611del (p.Gly204fs)
|
|
|
NM_015443.4(KANSL1):c.611dup (p.Met205fs)
|
|
|
NM_015443.4(KANSL1):c.613A>T (p.Met205Leu)
|
rs1236541973
|
|
NM_015443.4(KANSL1):c.617C>G (p.Thr206Ser)
|
rs761141661
|
|
NM_015443.4(KANSL1):c.617C>T (p.Thr206Ile)
|
rs761141661
|
|
NM_015443.4(KANSL1):c.620A>T (p.Asn207Ile)
|
rs144882998
|
|
NM_015443.4(KANSL1):c.631C>G (p.Pro211Ala)
|
rs745305837
|
|
NM_015443.4(KANSL1):c.632C>T (p.Pro211Leu)
|
rs1057520685
|
|
NM_015443.4(KANSL1):c.635A>C (p.His212Pro)
|
rs141110759
|
|
NM_015443.4(KANSL1):c.647A>T (p.Asp216Val)
|
rs2046288156
|
|
NM_015443.4(KANSL1):c.657C>T (p.His219=)
|
rs758128635
|
|
NM_015443.4(KANSL1):c.658A>C (p.Thr220Pro)
|
rs2046287355
|
|
NM_015443.4(KANSL1):c.658A>T (p.Thr220Ser)
|
rs2046287355
|
|
NM_015443.4(KANSL1):c.677A>G (p.Asn226Ser)
|
rs1428454868
|
|
NM_015443.4(KANSL1):c.680G>A (p.Ser227Asn)
|
rs150345690
|
|
NM_015443.4(KANSL1):c.680G>T (p.Ser227Ile)
|
rs150345690
|
|
NM_015443.4(KANSL1):c.695C>A (p.Ser232Tyr)
|
rs770400570
|
|
NM_015443.4(KANSL1):c.699dup (p.Val234fs)
|
rs2147741933
|
|
NM_015443.4(KANSL1):c.706T>A (p.Ser236Thr)
|
rs747832991
|
|
NM_015443.4(KANSL1):c.714A>G (p.Glu238=)
|
rs749206026
|
|
NM_015443.4(KANSL1):c.715C>T (p.Gln239Ter)
|
rs780346743
|
|
NM_015443.4(KANSL1):c.717G>A (p.Gln239=)
|
rs756250182
|
|
NM_015443.4(KANSL1):c.727C>T (p.Gln243Ter)
|
rs142096969
|
|
NM_015443.4(KANSL1):c.73C>G (p.Pro25Ala)
|
rs778091394
|
|
NM_015443.4(KANSL1):c.740G>A (p.Arg247Lys)
|
rs1265436458
|
|
NM_015443.4(KANSL1):c.741A>T (p.Arg247Ser)
|
|
|
NM_015443.4(KANSL1):c.749C>G (p.Pro250Arg)
|
|
|
NM_015443.4(KANSL1):c.749C>T (p.Pro250Leu)
|
|
|
NM_015443.4(KANSL1):c.74C>T (p.Pro25Leu)
|
|
|
NM_015443.4(KANSL1):c.750T>C (p.Pro250=)
|
rs1555575566
|
|
NM_015443.4(KANSL1):c.760T>G (p.Ser254Ala)
|
rs780074451
|
|
NM_015443.4(KANSL1):c.761C>T (p.Ser254Phe)
|
|
|
NM_015443.4(KANSL1):c.764G>A (p.Ser255Asn)
|
rs769994474
|
|
NM_015443.4(KANSL1):c.764G>T (p.Ser255Ile)
|
|
|
NM_015443.4(KANSL1):c.773_774inv (p.Leu258Ser)
|
|
|
NM_015443.4(KANSL1):c.774G>C (p.Leu258Phe)
|
rs202232945
|
|
NM_015443.4(KANSL1):c.774_775insT (p.Gly259fs)
|
rs2046278091
|
|
NM_015443.4(KANSL1):c.778G>A (p.Gly260Ser)
|
rs1159067199
|
|
NM_015443.4(KANSL1):c.779del (p.Gly260fs)
|
rs748018297
|
|
NM_015443.4(KANSL1):c.779dup (p.Val261fs)
|
rs748018297
|
|
NM_015443.4(KANSL1):c.783C>G (p.Val261=)
|
rs1555575518
|
|
NM_015443.4(KANSL1):c.787T>C (p.Leu263=)
|
rs753216239
|
|
NM_015443.4(KANSL1):c.788del (p.Leu263fs)
|
rs2147739739
|
|
NM_015443.4(KANSL1):c.808_816del (p.Leu270_Ser272del)
|
rs2046275378
|
|
NM_015443.4(KANSL1):c.808del (p.Leu270fs)
|
rs1555575489
|
|
NM_015443.4(KANSL1):c.812C>T (p.Ser271Phe)
|
rs1597872380
|
|
NM_015443.4(KANSL1):c.819T>A (p.Ile273=)
|
rs2147739127
|
|
NM_015443.4(KANSL1):c.823T>C (p.Phe275Leu)
|
rs1567762510
|
|
NM_015443.4(KANSL1):c.832T>G (p.Leu278Val)
|
rs777914291
|
|
NM_015443.4(KANSL1):c.836A>T (p.Asp279Val)
|
rs1567762446
|
|
NM_015443.4(KANSL1):c.845C>A (p.Thr282Lys)
|
rs779421348
|
|
NM_015443.4(KANSL1):c.84C>T (p.Thr28=)
|
rs755321759
|
|
NM_015443.4(KANSL1):c.876T>G (p.Ala292=)
|
rs1057522110
|
|
NM_015443.4(KANSL1):c.876del (p.Asp293fs)
|
rs1597872089
|
|
NM_015443.4(KANSL1):c.878del (p.Asp293fs)
|
rs1555575405
|
|
NM_015443.4(KANSL1):c.887G>A (p.Ser296Asn)
|
rs1435339492
|
|
NM_015443.4(KANSL1):c.890G>A (p.Arg297His)
|
rs748350342
|
|
NM_015443.4(KANSL1):c.893C>G (p.Ala298Gly)
|
rs149363799
|
|
NM_015443.4(KANSL1):c.902T>A (p.Leu301Ter)
|
rs1189248208
|
|
NM_015443.4(KANSL1):c.911G>A (p.Arg304His)
|
rs1484397126
|
|
NM_015443.4(KANSL1):c.915A>G (p.Leu305=)
|
rs2147737191
|
|
NM_015443.4(KANSL1):c.916C>T (p.Gln306Ter)
|
rs281865468
|
|
NM_015443.4(KANSL1):c.917A>G (p.Gln306Arg)
|
|
|
NM_015443.4(KANSL1):c.919G>A (p.Val307Ile)
|
|
|
NM_015443.4(KANSL1):c.926A>G (p.Gln309Arg)
|
rs2147737029
|
|
NM_015443.4(KANSL1):c.930C>T (p.Ala310=)
|
rs763673329
|
|
NM_015443.4(KANSL1):c.930del (p.Lys311fs)
|
rs1597871799
|
|
NM_015443.4(KANSL1):c.932A>G (p.Lys311Arg)
|
rs1555575305
|
|
NM_015443.4(KANSL1):c.936G>C (p.Gln312His)
|
|
|
NM_015443.4(KANSL1):c.937G>C (p.Val313Leu)
|
rs1340481051
|
|
NM_015443.4(KANSL1):c.942G>A (p.Glu314=)
|
rs765182404
|
|
NM_015443.4(KANSL1):c.950T>C (p.Ile317Thr)
|
rs2147736324
|
|
NM_015443.4(KANSL1):c.954A>T (p.Gln318His)
|
rs773332161
|
|
NM_015443.4(KANSL1):c.979A>T (p.Lys327Ter)
|
rs2046265286
|
|
NM_015443.4(KANSL1):c.985_986del (p.Leu329fs)
|
rs281865473
|
|
NM_015443.4(KANSL1):c.985_995del (p.Leu329fs)
|
rs1057518659
|
|
NM_015443.4(KANSL1):c.986T>C (p.Leu329Ser)
|
|
|
NM_015443.4(KANSL1):c.989G>A (p.Ser330Asn)
|
rs2147735832
|
|
NM_015443.4(KANSL1):c.993dup (p.Leu332fs)
|
|
|
NM_015443.4:c.1431+1_1432-1del
|
|
|