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.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.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.2838-52C>T
|
rs367992334
|
0.00102
|
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.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.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.3146A>G (p.Glu1049Gly)
|
rs771796347
|
0.00010
|
NM_015443.4(KANSL1):c.1189G>A (p.Ala397Thr)
|
rs138565467
|
0.00009
|
NM_015443.4(KANSL1):c.1180A>G (p.Ser394Gly)
|
rs751709708
|
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.2755G>A (p.Ala919Thr)
|
rs776547113
|
0.00007
|
NM_015443.4(KANSL1):c.1000A>G (p.Asn334Asp)
|
rs112150341
|
0.00006
|
NM_015443.4(KANSL1):c.1751C>T (p.Ser584Phe)
|
rs544459109
|
0.00006
|
NM_015443.4(KANSL1):c.2230G>C (p.Asp744His)
|
rs200103894
|
0.00006
|
NM_015443.4(KANSL1):c.296A>G (p.Gln99Arg)
|
rs754727332
|
0.00006
|
NM_015443.4(KANSL1):c.3306G>A (p.Pro1102=)
|
rs143746890
|
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.889C>T (p.Arg297Cys)
|
rs772236084
|
0.00005
|
NM_015443.4(KANSL1):c.*3G>A
|
rs372125138
|
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.1185A>G (p.Glu395=)
|
rs199820469
|
0.00004
|
NM_015443.4(KANSL1):c.118G>A (p.Ala40Thr)
|
rs376632173
|
0.00004
|
NM_015443.4(KANSL1):c.1652C>T (p.Thr551Ile)
|
rs778178483
|
0.00004
|
NM_015443.4(KANSL1):c.2204-11C>A
|
rs373489007
|
0.00004
|
NM_015443.4(KANSL1):c.2298A>G (p.Pro766=)
|
rs367624499
|
0.00004
|
NM_015443.4(KANSL1):c.3056G>A (p.Arg1019His)
|
rs781056926
|
0.00004
|
NM_015443.4(KANSL1):c.541C>T (p.Arg181Trp)
|
rs375225315
|
0.00004
|
NM_015443.4(KANSL1):c.117C>T (p.Asn39=)
|
rs747136051
|
0.00003
|
NM_015443.4(KANSL1):c.1613C>T (p.Ser538Leu)
|
rs142435060
|
0.00003
|
NM_015443.4(KANSL1):c.1929C>T (p.Thr643=)
|
rs937831873
|
0.00003
|
NM_015443.4(KANSL1):c.2724+32C>T
|
rs369804494
|
0.00003
|
NM_015443.4(KANSL1):c.3002C>T (p.Pro1001Leu)
|
rs1037585739
|
0.00003
|
NM_015443.4(KANSL1):c.3038T>C (p.Leu1013Ser)
|
rs138490347
|
0.00003
|
NM_015443.4(KANSL1):c.3260C>T (p.Pro1087Leu)
|
rs781609742
|
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.112G>A (p.Gly38Ser)
|
rs770738115
|
0.00002
|
NM_015443.4(KANSL1):c.1899C>T (p.Cys633=)
|
rs148259171
|
0.00002
|
NM_015443.4(KANSL1):c.228A>G (p.Gln76=)
|
rs1018528687
|
0.00002
|
NM_015443.4(KANSL1):c.669T>C (p.Tyr223=)
|
rs778659171
|
0.00002
|
NM_015443.4(KANSL1):c.850A>G (p.Ile284Val)
|
rs766991003
|
0.00002
|
NM_015443.4(KANSL1):c.1421G>A (p.Arg474His)
|
rs770719196
|
0.00001
|
NM_015443.4(KANSL1):c.1652+48T>C
|
rs200482801
|
0.00001
|
NM_015443.4(KANSL1):c.1673A>T (p.Asp558Val)
|
rs551923672
|
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.19G>A (p.Ala7Thr)
|
rs768152581
|
0.00001
|
NM_015443.4(KANSL1):c.2067G>T (p.Trp689Cys)
|
rs755418917
|
0.00001
|
NM_015443.4(KANSL1):c.2158C>T (p.Arg720Cys)
|
rs376233499
|
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.2505C>T (p.Pro835=)
|
rs1037817208
|
0.00001
|
NM_015443.4(KANSL1):c.2509A>G (p.Ser837Gly)
|
rs776349500
|
0.00001
|
NM_015443.4(KANSL1):c.2724+23A>G
|
rs544544589
|
0.00001
|
NM_015443.4(KANSL1):c.2838-9G>T
|
rs190142867
|
0.00001
|
NM_015443.4(KANSL1):c.3031C>A (p.Arg1011=)
|
rs779686052
|
0.00001
|
NM_015443.4(KANSL1):c.3091-5_3091-2dup
|
rs760084513
|
0.00001
|
NM_015443.4(KANSL1):c.3123C>G (p.Pro1041=)
|
rs960036500
|
0.00001
|
NM_015443.4(KANSL1):c.500A>G (p.His167Arg)
|
rs779594202
|
0.00001
|
NM_015443.4(KANSL1):c.610G>A (p.Gly204Ser)
|
rs1057520810
|
0.00001
|
NM_015443.4(KANSL1):c.702C>A (p.Val234=)
|
rs1057521846
|
0.00001
|
NM_015443.4(KANSL1):c.798A>G (p.Lys266=)
|
rs765667414
|
0.00001
|
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs)
|
rs551541795
|
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(chr17:44249838-44259539)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
|
|
|
NM_001193466.1:c.1290-?_1431+?dup
|
|
|
NM_015443.4(KANSL1):c.*1519AAG[1]
|
|
|
NM_015443.4(KANSL1):c.-194C>A
|
rs56266533
|
|
NM_015443.4(KANSL1):c.-23_-2del
|
rs2147753838
|
|
NM_015443.4(KANSL1):c.-89-322dup
|
rs35095455
|
|
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+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.1000A>T (p.Asn334Tyr)
|
rs112150341
|
|
NM_015443.4(KANSL1):c.1006G>T (p.Glu336Ter)
|
rs1555575197
|
|
NM_015443.4(KANSL1):c.1036C>A (p.Leu346Met)
|
|
|
NM_015443.4(KANSL1):c.1049C>G (p.Ala350Gly)
|
rs932987742
|
|
NM_015443.4(KANSL1):c.1142A>G (p.Glu381Gly)
|
rs796052602
|
|
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.1268_1269del (p.Pro423fs)
|
rs1555574888
|
|
NM_015443.4(KANSL1):c.1274A>G (p.Gln425Arg)
|
rs2147730177
|
|
NM_015443.4(KANSL1):c.1288_1289del (p.Leu430fs)
|
rs2046246646
|
|
NM_015443.4(KANSL1):c.1290-139del
|
rs66674327
|
|
NM_015443.4(KANSL1):c.1297A>T (p.Arg433Trp)
|
rs2146948079
|
|
NM_015443.4(KANSL1):c.1384C>T (p.Arg462Ter)
|
|
|
NM_015443.4(KANSL1):c.1420C>G (p.Arg474Gly)
|
|
|
NM_015443.4(KANSL1):c.1450del (p.Glu484fs)
|
rs34878385
|
|
NM_015443.4(KANSL1):c.1463C>T (p.Pro488Leu)
|
|
|
NM_015443.4(KANSL1):c.1479C>T (p.Asp493=)
|
|
|
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.1522A>T (p.Thr508Ser)
|
rs1598573095
|
|
NM_015443.4(KANSL1):c.1532del (p.Lys510_Leu511insTer)
|
rs886039733
|
|
NM_015443.4(KANSL1):c.1534-300CT[5]
|
rs144435729
|
|
NM_015443.4(KANSL1):c.1563C>G (p.Asn521Lys)
|
rs886043787
|
|
NM_015443.4(KANSL1):c.1579_1582del (p.Ile527fs)
|
rs1057518182
|
|
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.1651dup (p.Thr551fs)
|
rs1057518010
|
|
NM_015443.4(KANSL1):c.1652+1G>A
|
rs281865470
|
|
NM_015443.4(KANSL1):c.1672G>C (p.Asp558His)
|
rs796052594
|
|
NM_015443.4(KANSL1):c.1726C>T (p.Arg576Ter)
|
rs2146658002
|
|
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.1816C>T (p.Arg606Ter)
|
rs281865469
|
|
NM_015443.4(KANSL1):c.1830C>A (p.Ile610=)
|
rs150800846
|
|
NM_015443.4(KANSL1):c.1848G>T (p.Lys616Asn)
|
rs1057520050
|
|
NM_015443.4(KANSL1):c.1849-110C>G
|
rs7208413
|
|
NM_015443.4(KANSL1):c.1849-55T>G
|
rs12150447
|
|
NM_015443.4(KANSL1):c.1857G>T (p.Arg619=)
|
rs191986791
|
|
NM_015443.4(KANSL1):c.190C>T (p.Arg64Ter)
|
|
|
NM_015443.4(KANSL1):c.1944dup (p.His649fs)
|
|
|
NM_015443.4(KANSL1):c.2021-234A>C
|
rs138420167
|
|
NM_015443.4(KANSL1):c.2058del (p.Lys686fs)
|
rs1064793433
|
|
NM_015443.4(KANSL1):c.205A>G (p.Lys69Glu)
|
|
|
NM_015443.4(KANSL1):c.2109dup (p.Ser704fs)
|
|
|
NM_015443.4(KANSL1):c.2203+1G>A
|
rs796052595
|
|
NM_015443.4(KANSL1):c.2203+225G>T
|
rs16940845
|
|
NM_015443.4(KANSL1):c.2233A>G (p.Arg745Gly)
|
rs796052596
|
|
NM_015443.4(KANSL1):c.2256C>T (p.Asp752=)
|
rs760224197
|
|
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.2392_2392+1dup
|
|
|
NM_015443.4(KANSL1):c.2470C>T (p.Arg824Ter)
|
rs2077221203
|
|
NM_015443.4(KANSL1):c.2495C>A (p.Ser832Tyr)
|
|
|
NM_015443.4(KANSL1):c.2534G>A (p.Ser845Asn)
|
rs796052597
|
|
NM_015443.4(KANSL1):c.2541+157A>C
|
|
|
NM_015443.4(KANSL1):c.2541+18G>A
|
rs12150090
|
|
NM_015443.4(KANSL1):c.2541+24C>G
|
rs141409854
|
|
NM_015443.4(KANSL1):c.2542-2A>G
|
rs2077089395
|
|
NM_015443.4(KANSL1):c.2569G>A (p.Glu857Lys)
|
rs2146325036
|
|
NM_015443.4(KANSL1):c.2589C>T (p.Asn863=)
|
rs1555731788
|
|
NM_015443.4(KANSL1):c.2660C>T (p.Thr887Met)
|
|
|
NM_015443.4(KANSL1):c.2666+3A>G
|
rs2146324420
|
|
NM_015443.4(KANSL1):c.2667-1G>A
|
rs2077066926
|
|
NM_015443.4(KANSL1):c.2667-4dup
|
rs2077067052
|
|
NM_015443.4(KANSL1):c.2685T>G (p.Leu895=)
|
|
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NM_015443.4(KANSL1):c.2710GAG[1] (p.Glu905del)
|
rs551968687
|
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NM_015443.4(KANSL1):c.2827C>T (p.Arg943Trp)
|
|
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NM_015443.4(KANSL1):c.2830_2837+13del
|
rs1064796289
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NM_015443.4(KANSL1):c.2838-8G>A
|
rs1355646117
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NM_015443.4(KANSL1):c.2902del (p.Gln968fs)
|
rs1374665357
|
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NM_015443.4(KANSL1):c.2902dup (p.Gln968fs)
|
rs1374665357
|
|
NM_015443.4(KANSL1):c.2956_2957del (p.Gly986fs)
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rs1598441446
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NM_015443.4(KANSL1):c.3091-167C>T
|
rs117568760
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|
NM_015443.4(KANSL1):c.3105G>C (p.Trp1035Cys)
|
rs2146302096
|
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NM_015443.4(KANSL1):c.3168A>G (p.Ala1056=)
|
|
|
NM_015443.4(KANSL1):c.3193C>T (p.Arg1065Ter)
|
rs2146300587
|
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NM_015443.4(KANSL1):c.3289G>C (p.Ala1097Pro)
|
rs2077005160
|
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NM_015443.4(KANSL1):c.3298C>G (p.Gln1100Glu)
|
rs796052598
|
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NM_015443.4(KANSL1):c.3312_3313del (p.His1104fs)
|
rs761370843
|
|
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.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.452A>G (p.Gln151Arg)
|
rs796052600
|
|
NM_015443.4(KANSL1):c.517_518delinsAT (p.Ser173Ile)
|
rs2046297678
|
|
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.536_537dup (p.Lys180fs)
|
rs1064794038
|
|
NM_015443.4(KANSL1):c.570G>A (p.Gly190=)
|
rs1365962710
|
|
NM_015443.4(KANSL1):c.578T>C (p.Met193Thr)
|
rs2147744627
|
|
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.608_611dup (p.Met205fs)
|
rs1304078301
|
|
NM_015443.4(KANSL1):c.611dup (p.Met205fs)
|
|
|
NM_015443.4(KANSL1):c.680G>A (p.Ser227Asn)
|
rs150345690
|
|
NM_015443.4(KANSL1):c.699dup (p.Val234fs)
|
rs2147741933
|
|
NM_015443.4(KANSL1):c.727C>T (p.Gln243Ter)
|
rs142096969
|
|
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.760T>G (p.Ser254Ala)
|
rs780074451
|
|
NM_015443.4(KANSL1):c.761C>T (p.Ser254Phe)
|
|
|
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.788del (p.Leu263fs)
|
rs2147739739
|
|
NM_015443.4(KANSL1):c.808del (p.Leu270fs)
|
rs1555575489
|
|
NM_015443.4(KANSL1):c.902T>A (p.Leu301Ter)
|
rs1189248208
|
|
NM_015443.4(KANSL1):c.917A>G (p.Gln306Arg)
|
|
|
NM_015443.4(KANSL1):c.919G>A (p.Val307Ile)
|
|
|
NM_015443.4(KANSL1):c.930del (p.Lys311fs)
|
rs1597871799
|
|