NM_001130438.3(SPTAN1):c.1573-180G>A
|
rs4384085
|
0.99656
|
NM_001130438.3(SPTAN1):c.6762+251dup
|
rs11442134
|
0.99651
|
NM_001130438.3(SPTAN1):c.6576+94_6576+95insAA
|
rs10694437
|
0.99191
|
NM_001130438.3(SPTAN1):c.2779-172A>G
|
rs7026966
|
0.96938
|
NM_001130438.3(SPTAN1):c.1221+321T>C
|
rs4837281
|
0.96936
|
NM_001130438.3(SPTAN1):c.1086-83A>G
|
rs4837280
|
0.96934
|
NM_001130438.3(SPTAN1):c.2194-82A>G
|
rs4240431
|
0.96934
|
NM_001130438.3(SPTAN1):c.1222-274T>C
|
rs7031524
|
0.96928
|
NM_001130438.3(SPTAN1):c.237+335G>A
|
rs9696395
|
0.96925
|
NM_001130438.3(SPTAN1):c.5601-156T>C
|
rs4837290
|
0.96909
|
NM_001130438.3(SPTAN1):c.2560+43G>A
|
rs4836615
|
0.96851
|
NM_001130438.3(SPTAN1):c.4905+41C>G
|
rs7024498
|
0.96844
|
NM_001130438.3(SPTAN1):c.505-176C>T
|
rs2297767
|
0.96797
|
NM_001130438.3(SPTAN1):c.3007-212A>G
|
rs10819419
|
0.96725
|
NM_001130438.3(SPTAN1):c.2871+228A>C
|
rs4837287
|
0.96666
|
NM_001130438.3(SPTAN1):c.2779-112G>A
|
rs7027388
|
0.96624
|
NM_001130438.3(SPTAN1):c.3155+85G>A
|
rs3814530
|
0.93816
|
NM_001130438.3(SPTAN1):c.6708-47G>A
|
rs7866175
|
0.93246
|
NM_001130438.3(SPTAN1):c.4491+201T>C
|
rs7357662
|
0.91235
|
NM_001130438.3(SPTAN1):c.3580-246C>G
|
rs6478841
|
0.90189
|
NM_001130438.3(SPTAN1):c.2871+135A>G
|
rs4837286
|
0.90114
|
NM_001130438.3(SPTAN1):c.6763-109A>G
|
rs10760569
|
0.88837
|
NM_001130438.3(SPTAN1):c.1221+286T>A
|
rs1890104
|
0.78340
|
NM_001130438.3(SPTAN1):c.5478+110C>G
|
rs3750332
|
0.76653
|
NM_001130438.3(SPTAN1):c.2778+196C>G
|
rs11790032
|
0.75132
|
NM_001130438.3(SPTAN1):c.6576+228G>C
|
rs10760568
|
0.75073
|
NM_001130438.3(SPTAN1):c.3486C>T (p.Leu1162=)
|
rs2227864
|
0.74835
|
NM_001130438.3(SPTAN1):c.651+219A>G
|
rs2297771
|
0.74821
|
NM_001130438.3(SPTAN1):c.2778+257G>A
|
rs10988049
|
0.72950
|
NM_001130438.3(SPTAN1):c.505-89C>T
|
rs2297768
|
0.72385
|
NM_001130438.3(SPTAN1):c.363+144C>T
|
rs2152833
|
0.72336
|
NM_001130438.3(SPTAN1):c.2560+47C>T
|
rs4837284
|
0.72327
|
NM_001130438.3(SPTAN1):c.5406C>T (p.Thr1802=)
|
rs2227862
|
0.72171
|
NM_001130438.3(SPTAN1):c.3627+201G>A
|
rs4837289
|
0.71855
|
NM_001130438.3(SPTAN1):c.6280-27C>T
|
rs3737308
|
0.71407
|
NM_001130438.3(SPTAN1):c.364-304G>T
|
rs7047416
|
0.70536
|
NM_001130438.3(SPTAN1):c.5479-41A>C
|
rs7864187
|
0.22153
|
NM_001130438.3(SPTAN1):c.6707+251C>A
|
rs7857728
|
0.19740
|
NM_001130438.3(SPTAN1):c.6577-121C>T
|
rs1572914
|
0.17941
|
NM_001130438.3(SPTAN1):c.6576+249T>C
|
rs7038602
|
0.16613
|
NM_001130438.3(SPTAN1):c.363+274A>G
|
rs3763599
|
0.15591
|
NM_001130438.3(SPTAN1):c.1222-247G>A
|
rs7046238
|
0.15213
|
NM_001130438.3(SPTAN1):c.4758+109G>T
|
rs13299607
|
0.11884
|
NM_001130438.3(SPTAN1):c.6708-78C>T
|
rs41308912
|
0.07163
|
NM_001130438.3(SPTAN1):c.3006+100G>C
|
rs62584843
|
0.03873
|
NM_001130438.3(SPTAN1):c.1222-273G>A
|
rs77103380
|
0.03384
|
NM_001130438.3(SPTAN1):c.3156-221C>T
|
rs76196653
|
0.03382
|
NM_001130438.3(SPTAN1):c.3546T>C (p.Asp1182=)
|
rs945831
|
0.03378
|
NM_001130438.3(SPTAN1):c.5044-276G>T
|
rs117630545
|
0.03158
|
NM_001130438.3(SPTAN1):c.651+113G>A
|
rs10513498
|
0.03081
|
NM_001130438.3(SPTAN1):c.2779-143T>C
|
rs74813851
|
0.03050
|
NM_001130438.3(SPTAN1):c.5358-214C>T
|
rs76393340
|
0.03035
|
NM_001130438.3(SPTAN1):c.2011+94A>G
|
rs76531514
|
0.03006
|
NM_001130438.3(SPTAN1):c.6708-244C>T
|
rs12003066
|
0.02926
|
NM_001130438.3(SPTAN1):c.2872-42G>A
|
rs4307429
|
0.02839
|
NM_001130438.3(SPTAN1):c.504+159_504+160insGC
|
rs767942809
|
0.02581
|
NM_001130438.3(SPTAN1):c.504+161_504+162insC
|
rs761013466
|
0.02581
|
NM_001130438.3(SPTAN1):c.504+162_504+163insCTCTAG
|
rs757456517
|
0.02580
|
NM_001130438.3(SPTAN1):c.504+157_504+158insCTCTCCAGCTCTCC
|
rs765490751
|
0.02579
|
NM_001130438.3(SPTAN1):c.4491+289G>A
|
rs77315490
|
0.02518
|
NM_001130438.3(SPTAN1):c.3520-209A>G
|
rs112064644
|
0.02517
|
NM_001130438.3(SPTAN1):c.4773+323G>A
|
rs74482094
|
0.02511
|
NM_001130438.3(SPTAN1):c.3579+225C>T
|
rs79268762
|
0.02506
|
NM_001130438.3(SPTAN1):c.3580-279C>G
|
rs78856736
|
0.02447
|
NM_001130438.3(SPTAN1):c.6707+118A>G
|
rs114576138
|
0.02441
|
NM_001130438.3(SPTAN1):c.2012-146T>C
|
rs78064656
|
0.02432
|
NM_001130438.3(SPTAN1):c.3627+312C>T
|
rs114198206
|
0.02408
|
NM_001130438.3(SPTAN1):c.3520-93A>G
|
rs78493234
|
0.02287
|
NM_001130438.3(SPTAN1):c.3155+153G>C
|
rs76781152
|
0.02285
|
NM_001130438.3(SPTAN1):c.1462-27T>A
|
rs7040737
|
0.02284
|
NM_001130438.3(SPTAN1):c.6707+220G>A
|
rs7857827
|
0.02279
|
NM_001130438.3(SPTAN1):c.4774-223A>G
|
rs77594718
|
0.02127
|
NM_001130438.3(SPTAN1):c.6576+131dup
|
rs150387180
|
0.02073
|
NM_001130438.3(SPTAN1):c.6707+139G>A
|
rs77733303
|
0.01984
|
NM_001130438.3(SPTAN1):c.6576+284C>T
|
rs117848582
|
0.01948
|
NM_001130438.3(SPTAN1):c.2011+28A>G
|
rs76614650
|
0.01942
|
NM_001130438.3(SPTAN1):c.3415-125T>C
|
rs868454686
|
0.01931
|
NM_001130438.3(SPTAN1):c.3415-305T>C
|
rs112479500
|
0.01743
|
NM_001130438.3(SPTAN1):c.5437C>A (p.Arg1813=)
|
rs3750333
|
0.01558
|
NM_001130438.3(SPTAN1):c.5601-319C>T
|
rs140253935
|
0.01321
|
NM_001130438.3(SPTAN1):c.5358-195A>G
|
rs77926333
|
0.01278
|
NM_001130438.3(SPTAN1):c.3520-214T>A
|
rs35249383
|
0.01223
|
NM_001130438.3(SPTAN1):c.5734-234G>T
|
rs117190550
|
0.01086
|
NM_001130438.3(SPTAN1):c.6577-145C>T
|
rs148933269
|
0.00999
|
NM_001130438.3(SPTAN1):c.6576+193C>A
|
rs116561220
|
0.00966
|
NM_001130438.3(SPTAN1):c.3579+114G>A
|
rs117664291
|
0.00961
|
NM_001130438.3(SPTAN1):c.2011+125A>C
|
rs118148397
|
0.00941
|
NM_001130438.3(SPTAN1):c.2194-89G>A
|
rs28605457
|
0.00934
|
NM_001130438.3(SPTAN1):c.6762+151A>C
|
rs139321348
|
0.00904
|
NM_001130438.3(SPTAN1):c.1085+113A>G
|
rs945829
|
0.00800
|
NM_001130438.3(SPTAN1):c.6576+130T>C
|
rs182480392
|
0.00720
|
NM_001130438.3(SPTAN1):c.1572+143A>G
|
rs114952624
|
0.00695
|
NM_001130438.3(SPTAN1):c.7308+30T>C
|
rs138965195
|
0.00682
|
NM_001130438.3(SPTAN1):c.3579+228A>G
|
rs78117059
|
0.00665
|
NM_001130438.3(SPTAN1):c.1085+70_1085+71insCTTC
|
rs138499933
|
0.00654
|
NM_001130438.3(SPTAN1):c.1222-95A>G
|
rs112047036
|
0.00651
|
NM_001130438.3(SPTAN1):c.3579+258G>A
|
rs113208670
|
0.00649
|
NM_001130438.3(SPTAN1):c.3579+164G>C
|
rs75537926
|
0.00648
|
NM_001130438.3(SPTAN1):c.5149-187G>A
|
rs79176107
|
0.00647
|
NM_001130438.3(SPTAN1):c.4046+155T>A
|
rs111846527
|
0.00646
|
NM_001130438.3(SPTAN1):c.6660C>T (p.Asn2220=)
|
rs112955915
|
0.00645
|
NM_001130438.3(SPTAN1):c.5478+83A>G
|
rs112462793
|
0.00643
|
NM_001130438.3(SPTAN1):c.1462-297A>C
|
rs12002404
|
0.00640
|
NM_001130438.3(SPTAN1):c.4492-183A>G
|
rs140456277
|
0.00635
|
NM_001130438.3(SPTAN1):c.3520-14C>G
|
rs142682344
|
0.00575
|
NM_001130438.3(SPTAN1):c.237+216G>A
|
rs57777140
|
0.00540
|
NM_001130438.3(SPTAN1):c.1573-250G>A
|
rs185379907
|
0.00538
|
NM_001130438.3(SPTAN1):c.7014-31C>G
|
rs112372253
|
0.00524
|
NM_001130438.3(SPTAN1):c.5601-167C>T
|
rs572863471
|
0.00483
|
NM_001130438.3(SPTAN1):c.651+271T>C
|
rs79677350
|
0.00476
|
NM_001130438.3(SPTAN1):c.652-6G>A
|
rs115815276
|
0.00436
|
NM_001130438.3(SPTAN1):c.7308+50C>T
|
rs116114254
|
0.00436
|
NM_001130438.3(SPTAN1):c.3720-206G>A
|
rs12351128
|
0.00427
|
NM_001130438.3(SPTAN1):c.1323+65A>G
|
rs148439588
|
0.00405
|
NM_001130438.3(SPTAN1):c.1462-293del
|
rs1195834537
|
0.00405
|
NM_001130438.3(SPTAN1):c.3628-199T>C
|
rs147717209
|
0.00398
|
NM_001130438.3(SPTAN1):c.2872-209C>T
|
rs145971007
|
0.00392
|
NM_001130438.3(SPTAN1):c.6549C>A (p.Thr2183=)
|
rs116778543
|
0.00379
|
NM_001130438.3(SPTAN1):c.5552C>T (p.Ala1851Val)
|
rs11543347
|
0.00370
|
NM_001130438.3(SPTAN1):c.3627+164C>T
|
rs115221736
|
0.00369
|
NM_001130438.3(SPTAN1):c.5148+327C>T
|
rs138576972
|
0.00367
|
NM_001130438.3(SPTAN1):c.7160+27G>A
|
rs143392181
|
0.00367
|
NM_001130438.3(SPTAN1):c.5600+199T>A
|
rs151206158
|
0.00364
|
NM_001130438.3(SPTAN1):c.1085+35T>C
|
rs116465900
|
0.00362
|
NM_001130438.3(SPTAN1):c.6279+67G>C
|
rs145283248
|
0.00346
|
NM_001130438.3(SPTAN1):c.6707+80G>C
|
rs375648005
|
0.00328
|
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala)
|
rs144787939
|
0.00217
|
NM_001130438.3(SPTAN1):c.3720-5T>G
|
rs200543425
|
0.00180
|
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=)
|
rs140279996
|
0.00175
|
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=)
|
rs147132904
|
0.00175
|
NM_001130438.3(SPTAN1):c.5460G>A (p.Ala1820=)
|
rs140191388
|
0.00161
|
NM_001130438.3(SPTAN1):c.6111C>T (p.Gly2037=)
|
rs139799727
|
0.00154
|
NM_001130438.3(SPTAN1):c.7392G>A (p.Ala2464=)
|
rs149318543
|
0.00133
|
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=)
|
rs140353002
|
0.00130
|
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile)
|
rs77358650
|
0.00127
|
NM_001130438.3(SPTAN1):c.1806+34G>A
|
rs80262973
|
0.00126
|
NM_001130438.3(SPTAN1):c.5148+41A>G
|
rs145566452
|
0.00124
|
NM_001130438.3(SPTAN1):c.1737C>T (p.Phe579=)
|
rs143941068
|
0.00113
|
NM_001130438.3(SPTAN1):c.2880G>A (p.Val960=)
|
rs150731568
|
0.00101
|
NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val)
|
rs148727077
|
0.00097
|
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu)
|
rs143108250
|
0.00073
|
NM_001130438.3(SPTAN1):c.5478+12G>A
|
rs41275900
|
0.00067
|
NM_001130438.3(SPTAN1):c.7309-15T>C
|
rs370705867
|
0.00067
|
NM_001130438.3(SPTAN1):c.2610A>G (p.Gln870=)
|
rs138101005
|
0.00066
|
NM_001130438.3(SPTAN1):c.6763-44G>A
|
rs148133620
|
0.00061
|
NM_001130438.3(SPTAN1):c.7161-9C>T
|
rs187613754
|
0.00061
|
NM_001130438.3(SPTAN1):c.6408G>C (p.Glu2136Asp)
|
rs199930602
|
0.00058
|
NM_001130438.3(SPTAN1):c.2560+36G>A
|
rs186769459
|
0.00056
|
NM_001130438.3(SPTAN1):c.1650+34T>C
|
rs138030661
|
0.00054
|
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly)
|
rs143166100
|
0.00054
|
NM_001130438.3(SPTAN1):c.7155G>A (p.Pro2385=)
|
rs200456378
|
0.00050
|
NM_001130438.3(SPTAN1):c.3912C>T (p.Pro1304=)
|
rs143844598
|
0.00046
|
NM_001130438.3(SPTAN1):c.6159C>T (p.His2053=)
|
rs150902677
|
0.00046
|
NM_001130438.3(SPTAN1):c.7146G>A (p.Thr2382=)
|
rs75028792
|
0.00045
|
NM_001130438.3(SPTAN1):c.2324C>T (p.Ala775Val)
|
rs144649618
|
0.00043
|
NM_001130438.3(SPTAN1):c.7233C>T (p.Ser2411=)
|
rs138985089
|
0.00041
|
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser)
|
rs145038571
|
0.00038
|
NM_001130438.3(SPTAN1):c.2700C>T (p.Asn900=)
|
rs147466898
|
0.00036
|
NM_001130438.3(SPTAN1):c.1324-13C>G
|
rs199839122
|
0.00035
|
NM_001130438.3(SPTAN1):c.2753A>G (p.Tyr918Cys)
|
rs138275607
|
0.00033
|
NM_001130438.3(SPTAN1):c.480C>T (p.Asp160=)
|
rs201249013
|
0.00031
|
NM_001130438.3(SPTAN1):c.7319G>A (p.Arg2440Gln)
|
rs141980692
|
0.00029
|
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=)
|
rs34654141
|
0.00028
|
NM_001130438.3(SPTAN1):c.3042T>G (p.Gly1014=)
|
rs150870424
|
0.00028
|
NM_001130438.3(SPTAN1):c.3518A>C (p.Gln1173Pro)
|
rs141696651
|
0.00027
|
NM_001130438.3(SPTAN1):c.4536C>T (p.Ile1512=)
|
rs367772623
|
0.00027
|
NM_001130438.3(SPTAN1):c.4595+4G>T
|
rs185925523
|
0.00026
|
NM_001130438.3(SPTAN1):c.2025T>C (p.Arg675=)
|
rs145870898
|
0.00024
|
NM_001130438.3(SPTAN1):c.5301A>G (p.Glu1767=)
|
rs200641770
|
0.00021
|
NM_001130438.3(SPTAN1):c.3693C>T (p.Ser1231=)
|
rs142305088
|
0.00020
|
NM_001130438.3(SPTAN1):c.3235C>G (p.Leu1079Val)
|
rs559839676
|
0.00019
|
NM_001130438.3(SPTAN1):c.505-14T>C
|
rs372907681
|
0.00019
|
NM_001130438.3(SPTAN1):c.5106G>A (p.Leu1702=)
|
rs373491498
|
0.00019
|
NM_001130438.3(SPTAN1):c.7396G>A (p.Asp2466Asn)
|
rs367776636
|
0.00019
|
NM_001130438.3(SPTAN1):c.2011+10G>A
|
rs377437879
|
0.00018
|
NM_001130438.3(SPTAN1):c.6417C>T (p.Asp2139=)
|
rs140418358
|
0.00016
|
NM_001130438.3(SPTAN1):c.2344G>A (p.Asp782Asn)
|
rs199720383
|
0.00014
|
NM_001130438.3(SPTAN1):c.4239C>T (p.Ser1413=)
|
rs150097844
|
0.00014
|
NM_001130438.3(SPTAN1):c.5171G>T (p.Ser1724Ile)
|
rs375195855
|
0.00014
|
NM_001130438.3(SPTAN1):c.5439G>T (p.Arg1813=)
|
rs766924448
|
0.00014
|
NM_001130438.3(SPTAN1):c.7161-8G>A
|
rs202180736
|
0.00014
|
NM_001130438.3(SPTAN1):c.3970C>T (p.Leu1324=)
|
rs147233101
|
0.00012
|
NM_001130438.3(SPTAN1):c.4527C>A (p.Asp1509Glu)
|
rs139113273
|
0.00012
|
NM_001130438.3(SPTAN1):c.4543G>A (p.Gly1515Ser)
|
rs149899658
|
0.00012
|
NM_001130438.3(SPTAN1):c.7359C>T (p.Tyr2453=)
|
rs138634476
|
0.00012
|
NM_001130438.3(SPTAN1):c.7366G>A (p.Gly2456Ser)
|
rs199866550
|
0.00012
|
NM_001130438.3(SPTAN1):c.1916T>C (p.Ile639Thr)
|
rs1427892796
|
0.00011
|
NM_001130438.3(SPTAN1):c.4147-13C>G
|
rs374834326
|
0.00011
|
NM_001130438.3(SPTAN1):c.5044-4C>T
|
rs749484552
|
0.00011
|
NM_001130438.3(SPTAN1):c.7296G>A (p.Glu2432=)
|
rs765393647
|
0.00011
|
NM_001130438.3(SPTAN1):c.959G>A (p.Arg320His)
|
rs140076136
|
0.00011
|
NM_001130438.3(SPTAN1):c.5820C>T (p.Asp1940=)
|
rs147815147
|
0.00010
|
NM_001130438.3(SPTAN1):c.1689G>T (p.Met563Ile)
|
rs373973880
|
0.00009
|
NM_001130438.3(SPTAN1):c.2438-15G>A
|
rs201319189
|
0.00009
|
NM_001130438.3(SPTAN1):c.3078C>T (p.Pro1026=)
|
rs779993051
|
0.00009
|
NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn)
|
rs574740801
|
0.00009
|
NM_001130438.3(SPTAN1):c.4224C>T (p.His1408=)
|
rs200180598
|
0.00009
|
NM_001130438.3(SPTAN1):c.6190G>A (p.Ala2064Thr)
|
rs201411901
|
0.00009
|
NM_001130438.3(SPTAN1):c.6488A>G (p.Lys2163Arg)
|
rs144289764
|
0.00009
|
NM_001130438.3(SPTAN1):c.701A>G (p.Asn234Ser)
|
rs752578570
|
0.00009
|
NM_001130438.3(SPTAN1):c.7360G>A (p.Val2454Met)
|
rs766616293
|
0.00009
|
NM_001130438.3(SPTAN1):c.2233C>A (p.Gln745Lys)
|
rs769094437
|
0.00008
|
NM_001130438.3(SPTAN1):c.3099G>T (p.Glu1033Asp)
|
rs374682395
|
0.00008
|
NM_001130438.3(SPTAN1):c.3803T>C (p.Val1268Ala)
|
rs146153626
|
0.00008
|
NM_001130438.3(SPTAN1):c.5236A>G (p.Thr1746Ala)
|
rs756560952
|
0.00008
|
NM_001130438.3(SPTAN1):c.6081C>T (p.Asp2027=)
|
rs150801649
|
0.00008
|
NM_001130438.3(SPTAN1):c.6235G>A (p.Ala2079Thr)
|
rs377253398
|
0.00008
|
NM_001130438.3(SPTAN1):c.6763C>T (p.Arg2255Cys)
|
rs372779649
|
0.00008
|
NM_001130438.3(SPTAN1):c.6608G>A (p.Arg2203Gln)
|
rs560719289
|
0.00007
|
NM_001130438.3(SPTAN1):c.7391C>T (p.Ala2464Val)
|
rs139070536
|
0.00007
|
NM_001130438.3(SPTAN1):c.1512G>A (p.Ala504=)
|
rs141424626
|
0.00006
|
NM_001130438.3(SPTAN1):c.1633G>T (p.Ala545Ser)
|
rs1003067844
|
0.00006
|
NM_001130438.3(SPTAN1):c.2422G>A (p.Ala808Thr)
|
rs766491965
|
0.00006
|
NM_001130438.3(SPTAN1):c.2888C>T (p.Thr963Met)
|
rs375623472
|
0.00006
|
NM_001130438.3(SPTAN1):c.4485C>T (p.Asn1495=)
|
rs767175912
|
0.00006
|
NM_001130438.3(SPTAN1):c.5545C>T (p.Arg1849Trp)
|
rs148402616
|
0.00006
|
NM_001130438.3(SPTAN1):c.5648A>G (p.Asn1883Ser)
|
rs200248814
|
0.00006
|
NM_001130438.3(SPTAN1):c.5881G>A (p.Gly1961Arg)
|
rs142498180
|
0.00006
|
NM_001130438.3(SPTAN1):c.7199T>C (p.Met2400Thr)
|
rs145054594
|
0.00006
|
NM_001130438.3(SPTAN1):c.1806+4A>G
|
rs770046688
|
0.00005
|
NM_001130438.3(SPTAN1):c.2221G>T (p.Ala741Ser)
|
rs200241514
|
0.00005
|
NM_001130438.3(SPTAN1):c.2871+8T>C
|
rs1485998372
|
0.00005
|
NM_001130438.3(SPTAN1):c.3639G>A (p.Glu1213=)
|
rs750007543
|
0.00005
|
NM_001130438.3(SPTAN1):c.5331C>T (p.Asp1777=)
|
rs758017157
|
0.00005
|
NM_001130438.3(SPTAN1):c.7390G>A (p.Ala2464Thr)
|
rs544843583
|
0.00005
|
NM_001130438.3(SPTAN1):c.-3-18C>T
|
rs368470565
|
0.00004
|
NM_001130438.3(SPTAN1):c.1274A>G (p.Gln425Arg)
|
rs11792065
|
0.00004
|
NM_001130438.3(SPTAN1):c.1338C>T (p.Ser446=)
|
rs185614333
|
0.00004
|
NM_001130438.3(SPTAN1):c.1667A>G (p.Asn556Ser)
|
rs778489951
|
0.00004
|
NM_001130438.3(SPTAN1):c.1968G>A (p.Val656=)
|
rs968327265
|
0.00004
|
NM_001130438.3(SPTAN1):c.3030C>T (p.Asn1010=)
|
rs202129574
|
0.00004
|
NM_001130438.3(SPTAN1):c.3186A>T (p.Val1062=)
|
rs372807389
|
0.00004
|
NM_001130438.3(SPTAN1):c.3510G>A (p.Val1170=)
|
rs935038001
|
0.00004
|
NM_001130438.3(SPTAN1):c.4045C>T (p.Arg1349Trp)
|
rs771862017
|
0.00004
|
NM_001130438.3(SPTAN1):c.4309C>T (p.Arg1437Cys)
|
rs373033857
|
0.00004
|
NM_001130438.3(SPTAN1):c.4345-14C>T
|
rs201755611
|
0.00004
|
NM_001130438.3(SPTAN1):c.5907T>C (p.Ala1969=)
|
rs768986492
|
0.00004
|
NM_001130438.3(SPTAN1):c.603T>C (p.His201=)
|
rs370807034
|
0.00004
|
NM_001130438.3(SPTAN1):c.6496C>T (p.Arg2166Cys)
|
rs775190610
|
0.00004
|
NM_001130438.3(SPTAN1):c.6876C>T (p.Thr2292=)
|
rs886063509
|
0.00004
|
NM_001130438.3(SPTAN1):c.7135A>G (p.Ile2379Val)
|
rs770358940
|
0.00004
|
NM_001130438.3(SPTAN1):c.1362G>C (p.Glu454Asp)
|
rs144590741
|
0.00003
|
NM_001130438.3(SPTAN1):c.1954C>T (p.Arg652Cys)
|
rs779838514
|
0.00003
|
NM_001130438.3(SPTAN1):c.2572G>T (p.Ala858Ser)
|
rs1185428521
|
0.00003
|
NM_001130438.3(SPTAN1):c.3248G>A (p.Arg1083His)
|
rs369611161
|
0.00003
|
NM_001130438.3(SPTAN1):c.3941G>A (p.Cys1314Tyr)
|
rs776648566
|
0.00003
|
NM_001130438.3(SPTAN1):c.4479G>A (p.Ala1493=)
|
rs201716851
|
0.00003
|
NM_001130438.3(SPTAN1):c.497A>G (p.Asn166Ser)
|
rs139943747
|
0.00003
|
NM_001130438.3(SPTAN1):c.5239A>G (p.Ile1747Val)
|
rs780622472
|
0.00003
|
NM_001130438.3(SPTAN1):c.5340C>T (p.Asp1780=)
|
rs549528366
|
0.00003
|
NM_001130438.3(SPTAN1):c.5553G>A (p.Ala1851=)
|
rs759088264
|
0.00003
|
NM_001130438.3(SPTAN1):c.6151G>A (p.Ala2051Thr)
|
rs777950008
|
0.00003
|
NM_001130438.3(SPTAN1):c.6499G>A (p.Val2167Ile)
|
rs371095095
|
0.00003
|
NM_001130438.3(SPTAN1):c.6689+10C>T
|
rs769263723
|
0.00003
|
NM_001130438.3(SPTAN1):c.7014-16C>T
|
rs137913528
|
0.00003
|
NM_001130438.3(SPTAN1):c.7083C>T (p.Gly2361=)
|
rs1282937209
|
0.00003
|
NM_001130438.3(SPTAN1):c.7128C>T (p.Phe2376=)
|
rs369792563
|
0.00003
|
NM_001130438.3(SPTAN1):c.7395C>T (p.Phe2465=)
|
rs752878085
|
0.00003
|
NM_001130438.3(SPTAN1):c.1040G>A (p.Arg347His)
|
rs796053314
|
0.00002
|
NM_001130438.3(SPTAN1):c.1073A>G (p.Asn358Ser)
|
rs201947293
|
0.00002
|
NM_001130438.3(SPTAN1):c.131A>G (p.Tyr44Cys)
|
rs368482631
|
0.00002
|
NM_001130438.3(SPTAN1):c.1339G>A (p.Glu447Lys)
|
rs767067922
|
0.00002
|
NM_001130438.3(SPTAN1):c.1648G>T (p.Ala550Ser)
|
rs371178746
|
0.00002
|
NM_001130438.3(SPTAN1):c.1770T>G (p.Asn590Lys)
|
rs781048881
|
0.00002
|
NM_001130438.3(SPTAN1):c.237+5G>A
|
rs747501430
|
0.00002
|
NM_001130438.3(SPTAN1):c.2796C>T (p.His932=)
|
rs755933560
|
0.00002
|
NM_001130438.3(SPTAN1):c.2985C>T (p.Thr995=)
|
rs777441722
|
0.00002
|
NM_001130438.3(SPTAN1):c.3183T>C (p.Ser1061=)
|
rs776441600
|
0.00002
|
NM_001130438.3(SPTAN1):c.3641G>A (p.Arg1214His)
|
rs780184944
|
0.00002
|
NM_001130438.3(SPTAN1):c.3985G>C (p.Asp1329His)
|
rs1368132952
|
0.00002
|
NM_001130438.3(SPTAN1):c.4027C>T (p.Arg1343Cys)
|
rs138827421
|
0.00002
|
NM_001130438.3(SPTAN1):c.4076G>A (p.Arg1359Gln)
|
rs1176851202
|
0.00002
|
NM_001130438.3(SPTAN1):c.4279C>T (p.Arg1427Cys)
|
rs774559979
|
0.00002
|
NM_001130438.3(SPTAN1):c.4525G>A (p.Asp1509Asn)
|
rs757714696
|
0.00002
|
NM_001130438.3(SPTAN1):c.4991A>G (p.Lys1664Arg)
|
rs757109566
|
0.00002
|
NM_001130438.3(SPTAN1):c.5274G>A (p.Ala1758=)
|
rs775305903
|
0.00002
|
NM_001130438.3(SPTAN1):c.5322C>T (p.Phe1774=)
|
rs780530803
|
0.00002
|
NM_001130438.3(SPTAN1):c.6133A>G (p.Lys2045Glu)
|
rs753515426
|
0.00002
|
NM_001130438.3(SPTAN1):c.6183C>T (p.Ala2061=)
|
rs775886527
|
0.00002
|
NM_001130438.3(SPTAN1):c.6303C>T (p.Phe2101=)
|
rs1057522086
|
0.00002
|
NM_001130438.3(SPTAN1):c.6308A>G (p.Lys2103Arg)
|
rs796053322
|
0.00002
|
NM_001130438.3(SPTAN1):c.641A>G (p.Lys214Arg)
|
rs760419507
|
0.00002
|
NM_001130438.3(SPTAN1):c.6424C>T (p.Arg2142Cys)
|
rs796053323
|
0.00002
|
NM_001130438.3(SPTAN1):c.6468C>T (p.Ala2156=)
|
rs551663711
|
0.00002
|
NM_001130438.3(SPTAN1):c.6708-1171G>A
|
rs1029370467
|
0.00002
|
NM_001130438.3(SPTAN1):c.6726G>A (p.Glu2242=)
|
rs745750589
|
0.00002
|
NM_001130438.3(SPTAN1):c.7129G>A (p.Glu2377Lys)
|
rs757162652
|
0.00002
|
NM_001130438.3(SPTAN1):c.7316C>T (p.Thr2439Ile)
|
rs746532292
|
0.00002
|
NM_001130438.3(SPTAN1):c.1329C>T (p.Thr443=)
|
rs193111526
|
0.00001
|
NM_001130438.3(SPTAN1):c.1357C>T (p.Leu453=)
|
rs200827350
|
0.00001
|
NM_001130438.3(SPTAN1):c.1375C>T (p.Arg459Cys)
|
rs772281075
|
0.00001
|
NM_001130438.3(SPTAN1):c.1389C>T (p.Tyr463=)
|
rs587784431
|
0.00001
|
NM_001130438.3(SPTAN1):c.1520A>C (p.Lys507Thr)
|
rs375343189
|
0.00001
|
NM_001130438.3(SPTAN1):c.1621A>G (p.Met541Val)
|
rs796053315
|
0.00001
|
NM_001130438.3(SPTAN1):c.1696C>T (p.Arg566Trp)
|
rs773019990
|
0.00001
|
NM_001130438.3(SPTAN1):c.1697G>A (p.Arg566Gln)
|
rs370304886
|
0.00001
|
NM_001130438.3(SPTAN1):c.1799C>A (p.Ala600Asp)
|
rs745720603
|
0.00001
|
NM_001130438.3(SPTAN1):c.1883T>C (p.Ile628Thr)
|
rs1564224960
|
0.00001
|
NM_001130438.3(SPTAN1):c.2171A>G (p.Glu724Gly)
|
rs374506067
|
0.00001
|
NM_001130438.3(SPTAN1):c.2292T>A (p.Ala764=)
|
rs140939957
|
0.00001
|
NM_001130438.3(SPTAN1):c.2421C>T (p.Ala807=)
|
rs1329573763
|
0.00001
|
NM_001130438.3(SPTAN1):c.2430C>T (p.Thr810=)
|
rs754228048
|
0.00001
|
NM_001130438.3(SPTAN1):c.2557G>A (p.Glu853Lys)
|
rs771925044
|
0.00001
|
NM_001130438.3(SPTAN1):c.2588C>G (p.Ala863Gly)
|
rs775545003
|
0.00001
|
NM_001130438.3(SPTAN1):c.2599G>A (p.Glu867Lys)
|
rs1339046005
|
0.00001
|
NM_001130438.3(SPTAN1):c.2614T>C (p.Trp872Arg)
|
rs899998696
|
0.00001
|
NM_001130438.3(SPTAN1):c.2647C>T (p.Arg883Trp)
|
rs770641858
|
0.00001
|
NM_001130438.3(SPTAN1):c.2763C>T (p.Asp921=)
|
rs761166458
|
0.00001
|
NM_001130438.3(SPTAN1):c.2838C>G (p.Ile946Met)
|
rs943636575
|
0.00001
|
NM_001130438.3(SPTAN1):c.3035G>A (p.Arg1012His)
|
rs1265382491
|
0.00001
|
NM_001130438.3(SPTAN1):c.3050C>T (p.Pro1017Leu)
|
rs370748662
|
0.00001
|
NM_001130438.3(SPTAN1):c.3060C>T (p.Tyr1020=)
|
rs530361602
|
0.00001
|
NM_001130438.3(SPTAN1):c.3133C>T (p.Arg1045Trp)
|
rs794727356
|
0.00001
|
NM_001130438.3(SPTAN1):c.3156-11C>G
|
rs781434997
|
0.00001
|
NM_001130438.3(SPTAN1):c.3194G>A (p.Arg1065His)
|
rs199561983
|
0.00001
|
NM_001130438.3(SPTAN1):c.3358G>A (p.Gly1120Arg)
|
rs748698544
|
0.00001
|
NM_001130438.3(SPTAN1):c.3415-9G>T
|
rs199802986
|
0.00001
|
NM_001130438.3(SPTAN1):c.3466G>C (p.Asp1156His)
|
rs1854608331
|
0.00001
|
NM_001130438.3(SPTAN1):c.3482G>T (p.Gly1161Val)
|
rs1060503492
|
0.00001
|
NM_001130438.3(SPTAN1):c.3579+3_3579+4dup
|
rs797046004
|
0.00001
|
NM_001130438.3(SPTAN1):c.3604G>A (p.Val1202Met)
|
rs1312920158
|
0.00001
|
NM_001130438.3(SPTAN1):c.3613T>C (p.Phe1205Leu)
|
rs1334812460
|
0.00001
|
NM_001130438.3(SPTAN1):c.362G>T (p.Arg121Leu)
|
rs942861981
|
0.00001
|
NM_001130438.3(SPTAN1):c.368G>A (p.Arg123His)
|
rs775634580
|
0.00001
|
NM_001130438.3(SPTAN1):c.3720-7C>T
|
rs773023641
|
0.00001
|
NM_001130438.3(SPTAN1):c.3865-7C>T
|
rs1248978165
|
0.00001
|
NM_001130438.3(SPTAN1):c.3965G>A (p.Ser1322Asn)
|
rs756084170
|
0.00001
|
NM_001130438.3(SPTAN1):c.3974G>T (p.Gly1325Val)
|
rs886043530
|
0.00001
|
NM_001130438.3(SPTAN1):c.4133T>C (p.Leu1378Pro)
|
rs776728710
|
0.00001
|
NM_001130438.3(SPTAN1):c.4164C>T (p.Ile1388=)
|
rs759713935
|
0.00001
|
NM_001130438.3(SPTAN1):c.4276G>C (p.Glu1426Gln)
|
rs1796996192
|
0.00001
|
NM_001130438.3(SPTAN1):c.4558G>A (p.Gly1520Arg)
|
rs374801331
|
0.00001
|
NM_001130438.3(SPTAN1):c.4576C>T (p.Arg1526Cys)
|
rs796053317
|
0.00001
|
NM_001130438.3(SPTAN1):c.4582G>A (p.Glu1528Lys)
|
rs780433514
|
0.00001
|
NM_001130438.3(SPTAN1):c.4595+9C>T
|
rs771798239
|
0.00001
|
NM_001130438.3(SPTAN1):c.4930C>G (p.Gln1644Glu)
|
rs1312145167
|
0.00001
|
NM_001130438.3(SPTAN1):c.4950A>G (p.Gln1650=)
|
rs375199636
|
0.00001
|
NM_001130438.3(SPTAN1):c.5245G>A (p.Gly1749Arg)
|
rs771886198
|
0.00001
|
NM_001130438.3(SPTAN1):c.5262C>T (p.Ile1754=)
|
rs1334875679
|
0.00001
|
NM_001130438.3(SPTAN1):c.5281C>T (p.Arg1761Trp)
|
rs764247109
|
0.00001
|
NM_001130438.3(SPTAN1):c.5880C>T (p.Asn1960=)
|
rs372782253
|
0.00001
|
NM_001130438.3(SPTAN1):c.6014A>G (p.Lys2005Arg)
|
rs754276364
|
0.00001
|
NM_001130438.3(SPTAN1):c.6078T>C (p.Phe2026=)
|
rs776794393
|
0.00001
|
NM_001130438.3(SPTAN1):c.615T>A (p.Val205=)
|
rs763385120
|
0.00001
|
NM_001130438.3(SPTAN1):c.6208T>G (p.Trp2070Gly)
|
rs766038302
|
0.00001
|
NM_001130438.3(SPTAN1):c.6228C>G (p.Asn2076Lys)
|
rs752560514
|
0.00001
|
NM_001130438.3(SPTAN1):c.6420C>T (p.Ala2140=)
|
rs1442533335
|
0.00001
|
NM_001130438.3(SPTAN1):c.6425G>A (p.Arg2142His)
|
rs796053324
|
0.00001
|
NM_001130438.3(SPTAN1):c.6594G>A (p.Leu2198=)
|
rs776820062
|
0.00001
|
NM_001130438.3(SPTAN1):c.6599A>G (p.Lys2200Arg)
|
rs1327555124
|
0.00001
|
NM_001130438.3(SPTAN1):c.6708-6G>A
|
rs375772117
|
0.00001
|
NM_001130438.3(SPTAN1):c.6763-12C>T
|
rs774215534
|
0.00001
|
NM_001130438.3(SPTAN1):c.6794G>C (p.Ser2265Thr)
|
rs796053326
|
0.00001
|
NM_001130438.3(SPTAN1):c.7209C>T (p.Arg2403=)
|
rs778129817
|
0.00001
|
NM_001130438.3(SPTAN1):c.7338C>T (p.Cys2446=)
|
rs374405583
|
0.00001
|
NM_001130438.3(SPTAN1):c.7414C>T (p.Arg2472Cys)
|
rs759975874
|
0.00001
|
NM_001130438.3(SPTAN1):c.776G>A (p.Arg259His)
|
rs772367229
|
0.00001
|
NM_001130438.3(SPTAN1):c.891C>T (p.His297=)
|
rs774303070
|
0.00001
|
NM_001130438.3(SPTAN1):c.958C>T (p.Arg320Cys)
|
rs794727910
|
0.00001
|
NM_001130438.3(SPTAN1):c.*148C>T
|
rs113912557
|
|
NM_001130438.3(SPTAN1):c.1006C>T (p.Arg336Ter)
|
|
|
NM_001130438.3(SPTAN1):c.1050G>A (p.Ala350=)
|
rs752710398
|
|
NM_001130438.3(SPTAN1):c.1085+3G>A
|
rs1420995845
|
|
NM_001130438.3(SPTAN1):c.1086-220dup
|
rs11464671
|
|
NM_001130438.3(SPTAN1):c.1097T>C (p.Phe366Ser)
|
rs942915357
|
|
NM_001130438.3(SPTAN1):c.1105G>C (p.Asp369His)
|
|
|
NM_001130438.3(SPTAN1):c.1162G>A (p.Glu388Lys)
|
rs2131029996
|
|
NM_001130438.3(SPTAN1):c.1170_1175delinsAAGTGT (p.Asp392Val)
|
|
|
NM_001130438.3(SPTAN1):c.1202A>T (p.Asp401Val)
|
rs2131030682
|
|
NM_001130438.3(SPTAN1):c.1221+115T>A
|
rs1890103
|
|
NM_001130438.3(SPTAN1):c.1221+115T>C
|
rs1890103
|
|
NM_001130438.3(SPTAN1):c.1222-226C>G
|
rs76220061
|
|
NM_001130438.3(SPTAN1):c.1242A>G (p.Glu414=)
|
rs137947812
|
|
NM_001130438.3(SPTAN1):c.128C>A (p.Ser43Tyr)
|
|
|
NM_001130438.3(SPTAN1):c.1298A>T (p.Tyr433Phe)
|
rs2131062140
|
|
NM_001130438.3(SPTAN1):c.1300G>T (p.Ala434Ser)
|
|
|
NM_001130438.3(SPTAN1):c.1306G>C (p.Asp436His)
|
|
|
NM_001130438.3(SPTAN1):c.1308T>G (p.Asp436Glu)
|
rs1048796195
|
|
NM_001130438.3(SPTAN1):c.1334T>C (p.Leu445Pro)
|
|
|
NM_001130438.3(SPTAN1):c.1337C>T (p.Ser446Phe)
|
rs794727023
|
|
NM_001130438.3(SPTAN1):c.1338C>G (p.Ser446=)
|
rs185614333
|
|
NM_001130438.3(SPTAN1):c.133C>T (p.Arg45Ter)
|
rs1484319243
|
|
NM_001130438.3(SPTAN1):c.1341G>A (p.Glu447=)
|
rs2131088001
|
|
NM_001130438.3(SPTAN1):c.1352C>A (p.Ala451Glu)
|
|
|
NM_001130438.3(SPTAN1):c.1366_1374dup (p.Leu458_Arg459insTrpGluLeu)
|
|
|
NM_001130438.3(SPTAN1):c.1383_1384delinsTT (p.Gln461_Gln462delinsHisTer)
|
rs2131088955
|
|
NM_001130438.3(SPTAN1):c.1420C>T (p.Arg474Trp)
|
rs1461072315
|
|
NM_001130438.3(SPTAN1):c.1445G>T (p.Trp482Leu)
|
rs2131090131
|
|
NM_001130438.3(SPTAN1):c.1462-293_1462-291del
|
rs1171484214
|
|
NM_001130438.3(SPTAN1):c.1462-293_1462-292del
|
rs1491457137
|
|
NM_001130438.3(SPTAN1):c.1462-294del
|
rs11429372
|
|
NM_001130438.3(SPTAN1):c.1462-294dup
|
rs11429372
|
|
NM_001130438.3(SPTAN1):c.1463C>T (p.Ala488Val)
|
rs1851980146
|
|
NM_001130438.3(SPTAN1):c.148C>A (p.Gln50Lys)
|
|
|
NM_001130438.3(SPTAN1):c.1514T>A (p.Leu505His)
|
|
|
NM_001130438.3(SPTAN1):c.1528G>A (p.Glu510Lys)
|
rs769320860
|
|
NM_001130438.3(SPTAN1):c.1572+208A>T
|
rs12002906
|
|
NM_001130438.3(SPTAN1):c.1573-145del
|
rs5900808
|
|
NM_001130438.3(SPTAN1):c.1573-6_1573-3del
|
rs758557229
|
|
NM_001130438.3(SPTAN1):c.1584A>G (p.Glu528=)
|
rs767443717
|
|
NM_001130438.3(SPTAN1):c.1642C>T (p.Arg548Ter)
|
|
|
NM_001130438.3(SPTAN1):c.1653G>A (p.Leu551=)
|
rs2131127973
|
|
NM_001130438.3(SPTAN1):c.1688T>C (p.Met563Thr)
|
rs377387388
|
|
NM_001130438.3(SPTAN1):c.1739G>A (p.Arg580His)
|
|
|
NM_001130438.3(SPTAN1):c.1755C>G (p.Leu585=)
|
rs1564223914
|
|
NM_001130438.3(SPTAN1):c.1879C>T (p.Arg627Ter)
|
|
|
NM_001130438.3(SPTAN1):c.1886A>G (p.Asp629Gly)
|
rs1589214618
|
|
NM_001130438.3(SPTAN1):c.1903G>A (p.Gly635Ser)
|
|
|
NM_001130438.3(SPTAN1):c.1949C>T (p.Ala650Val)
|
rs1057524587
|
|
NM_001130438.3(SPTAN1):c.1959G>C (p.Met653Ile)
|
rs1852167768
|
|
NM_001130438.3(SPTAN1):c.2011+30G>A
|
rs76351026
|
|
NM_001130438.3(SPTAN1):c.2040A>G (p.Gln680=)
|
rs1589216696
|
|
NM_001130438.3(SPTAN1):c.2066A>G (p.Asp689Gly)
|
|
|
NM_001130438.3(SPTAN1):c.2091A>G (p.Val697=)
|
rs1589216896
|
|
NM_001130438.3(SPTAN1):c.2094A>C (p.Glu698Asp)
|
rs1554746116
|
|
NM_001130438.3(SPTAN1):c.2158C>A (p.His720Asn)
|
rs191761167
|
|
NM_001130438.3(SPTAN1):c.2193+3A>G
|
|
|
NM_001130438.3(SPTAN1):c.2194G>A (p.Asp732Asn)
|
rs2131160403
|
|
NM_001130438.3(SPTAN1):c.2207G>C (p.Gly736Ala)
|
|
|
NM_001130438.3(SPTAN1):c.2209A>G (p.Ile737Val)
|
rs1129922
|
|
NM_001130438.3(SPTAN1):c.226A>G (p.Thr76Ala)
|
rs753016149
|
|
NM_001130438.3(SPTAN1):c.2282C>T (p.Ala761Val)
|
rs770359554
|
|
NM_001130438.3(SPTAN1):c.2291C>G (p.Ala764Gly)
|
|
|
NM_001130438.3(SPTAN1):c.2298T>A (p.Tyr766Ter)
|
rs2131162364
|
|
NM_001130438.3(SPTAN1):c.2308_2310del (p.Lys770del)
|
rs1554746442
|
|
NM_001130438.3(SPTAN1):c.2316C>G (p.Pro772=)
|
rs2131162953
|
|
NM_001130438.3(SPTAN1):c.2328G>A (p.Arg776=)
|
|
|
NM_001130438.3(SPTAN1):c.2343C>T (p.Ala781=)
|
rs34084388
|
|
NM_001130438.3(SPTAN1):c.2353C>T (p.Arg785Trp)
|
rs1253697977
|
|
NM_001130438.3(SPTAN1):c.237+300TTTTG[3]
|
rs537687332
|
|
NM_001130438.3(SPTAN1):c.2378T>C (p.Val793Ala)
|
|
|
NM_001130438.3(SPTAN1):c.2402G>A (p.Arg801Gln)
|
rs774283264
|
|
NM_001130438.3(SPTAN1):c.2428A>C (p.Thr810Pro)
|
rs1447170470
|
|
NM_001130438.3(SPTAN1):c.2463T>C (p.Asn821=)
|
rs2131169854
|
|
NM_001130438.3(SPTAN1):c.2491G>A (p.Ala831Thr)
|
|
|
NM_001130438.3(SPTAN1):c.2538G>A (p.Lys846=)
|
rs754477004
|
|
NM_001130438.3(SPTAN1):c.2560+189del
|
rs11382658
|
|
NM_001130438.3(SPTAN1):c.2560+189dup
|
rs11382658
|
|
NM_001130438.3(SPTAN1):c.2620G>A (p.Ala874Thr)
|
|
|
NM_001130438.3(SPTAN1):c.2648G>A (p.Arg883Gln)
|
|
|
NM_001130438.3(SPTAN1):c.2660A>C (p.Glu887Ala)
|
|
|
NM_001130438.3(SPTAN1):c.2666C>G (p.Ser889Cys)
|
rs886043660
|
|
NM_001130438.3(SPTAN1):c.2666_2668del (p.Ser889del)
|
rs796053332
|
|
NM_001130438.3(SPTAN1):c.2673G>A (p.Gln891=)
|
|
|
NM_001130438.3(SPTAN1):c.2701G>A (p.Glu901Lys)
|
rs1305659962
|
|
NM_001130438.3(SPTAN1):c.2746A>G (p.Thr916Ala)
|
rs1064797353
|
|
NM_001130438.3(SPTAN1):c.2752T>C (p.Tyr918His)
|
rs1589224403
|
|
NM_001130438.3(SPTAN1):c.2778+71_2778+73del
|
rs150632298
|
|
NM_001130438.3(SPTAN1):c.2779-2A>G
|
|
|
NM_001130438.3(SPTAN1):c.2871+141ATTT[7]
|
rs573630377
|
|
NM_001130438.3(SPTAN1):c.2894A>G (p.Asp965Gly)
|
|
|
NM_001130438.3(SPTAN1):c.2929G>C (p.Asp977His)
|
rs1853044906
|
|
NM_001130438.3(SPTAN1):c.296T>C (p.Ile99Thr)
|
|
|
NM_001130438.3(SPTAN1):c.2988dup (p.Leu997fs)
|
rs2131267665
|
|
NM_001130438.3(SPTAN1):c.2994C>T (p.Asn998=)
|
rs1470152077
|
|
NM_001130438.3(SPTAN1):c.3006+317C>T
|
rs117975373
|
|
NM_001130438.3(SPTAN1):c.3007-189C>G
|
rs10819420
|
|
NM_001130438.3(SPTAN1):c.3057G>A (p.Ala1019=)
|
rs759833805
|
|
NM_001130438.3(SPTAN1):c.3079G>A (p.Ala1027Thr)
|
rs779759134
|
|
NM_001130438.3(SPTAN1):c.3139G>A (p.Glu1047Lys)
|
rs1853536448
|
|
NM_001130438.3(SPTAN1):c.3155+305C>T
|
rs112366038
|
|
NM_001130438.3(SPTAN1):c.3155+3A>G
|
|
|
NM_001130438.3(SPTAN1):c.315_316insA (p.Gly106fs)
|
|
|
NM_001130438.3(SPTAN1):c.3171G>T (p.Lys1057Asn)
|
|
|
NM_001130438.3(SPTAN1):c.3247C>T (p.Arg1083Cys)
|
rs750290385
|
|
NM_001130438.3(SPTAN1):c.3391AAG[1] (p.Lys1132del)
|
|
|
NM_001130438.3(SPTAN1):c.3414+4T>C
|
rs794727389
|
|
NM_001130438.3(SPTAN1):c.3415-155C>T
|
rs118026701
|
|
NM_001130438.3(SPTAN1):c.3416A>T (p.Asp1139Val)
|
rs2131437230
|
|
NM_001130438.3(SPTAN1):c.3474G>C (p.Glu1158Asp)
|
rs2131437997
|
|
NM_001130438.3(SPTAN1):c.3490G>A (p.Ala1164Thr)
|
rs796053316
|
|
NM_001130438.3(SPTAN1):c.3528T>C (p.Tyr1176=)
|
rs1589272670
|
|
NM_001130438.3(SPTAN1):c.3569C>A (p.Ser1190Tyr)
|
rs1046110538
|
|
NM_001130438.3(SPTAN1):c.3579+1223G>A
|
|
|
NM_001130438.3(SPTAN1):c.3580-5_3580-2del
|
rs754528571
|
|
NM_001130438.3(SPTAN1):c.3586C>G (p.Arg1196Gly)
|
rs1156936601
|
|
NM_001130438.3(SPTAN1):c.3587G>A (p.Arg1196His)
|
|
|
NM_001130438.3(SPTAN1):c.360A>G (p.Ile120Met)
|
|
|
NM_001130438.3(SPTAN1):c.361C>T (p.Arg121Trp)
|
rs1376670407
|
|
NM_001130438.3(SPTAN1):c.3666C>T (p.Ala1222=)
|
rs372831978
|
|
NM_001130438.3(SPTAN1):c.367C>G (p.Arg123Gly)
|
|
|
NM_001130438.3(SPTAN1):c.3720-99TAAA[8]
|
rs544418154
|
|
NM_001130438.3(SPTAN1):c.3796G>A (p.Ala1266Thr)
|
rs1185147138
|
|
NM_001130438.3(SPTAN1):c.3834C>T (p.Phe1278=)
|
rs1589296272
|
|
NM_001130438.3(SPTAN1):c.3865-6C>T
|
|
|
NM_001130438.3(SPTAN1):c.3868A>C (p.Asn1290His)
|
rs1855684326
|
|
NM_001130438.3(SPTAN1):c.3910C>T (p.Pro1304Ser)
|
|
|
NM_001130438.3(SPTAN1):c.396A>G (p.Glu132=)
|
rs1589176632
|
|
NM_001130438.3(SPTAN1):c.3985G>A (p.Asp1329Asn)
|
|
|
NM_001130438.3(SPTAN1):c.3991C>A (p.Arg1331Ser)
|
rs1407200590
|
|
NM_001130438.3(SPTAN1):c.4033C>G (p.Leu1345Val)
|
rs1589297894
|
|
NM_001130438.3(SPTAN1):c.4046+241A>G
|
rs7028880
|
|
NM_001130438.3(SPTAN1):c.4046+5G>A
|
rs541570752
|
|
NM_001130438.3(SPTAN1):c.4128A>T (p.Ala1376=)
|
rs2131613638
|
|
NM_001130438.3(SPTAN1):c.4139G>A (p.Arg1380Gln)
|
|
|
NM_001130438.3(SPTAN1):c.4153C>T (p.Arg1385Trp)
|
rs770189298
|
|
NM_001130438.3(SPTAN1):c.4165G>A (p.Asp1389Asn)
|
|
|
NM_001130438.3(SPTAN1):c.418G>T (p.Glu140Ter)
|
rs2130965618
|
|
NM_001130438.3(SPTAN1):c.4220C>G (p.Ala1407Gly)
|
rs1589309661
|
|
NM_001130438.3(SPTAN1):c.4231T>C (p.Tyr1411His)
|
rs2131617024
|
|
NM_001130438.3(SPTAN1):c.4250A>G (p.Lys1417Arg)
|
|
|
NM_001130438.3(SPTAN1):c.4252C>A (p.Gln1418Lys)
|
rs1156309213
|
|
NM_001130438.3(SPTAN1):c.4357G>C (p.Asp1453His)
|
|
|
NM_001130438.3(SPTAN1):c.4435A>G (p.Ser1479Gly)
|
|
|
NM_001130438.3(SPTAN1):c.4457A>C (p.Lys1486Thr)
|
|
|
NM_001130438.3(SPTAN1):c.4458del (p.Lys1486fs)
|
rs1564280617
|
|
NM_001130438.3(SPTAN1):c.4478C>T (p.Ala1493Val)
|
rs2131621179
|
|
NM_001130438.3(SPTAN1):c.4492-20A>G
|
rs944908728
|
|
NM_001130438.3(SPTAN1):c.4551T>C (p.Tyr1517=)
|
rs570247500
|
|
NM_001130438.3(SPTAN1):c.4587C>A (p.Val1529=)
|
|
|
NM_001130438.3(SPTAN1):c.4648T>C (p.Ser1550Pro)
|
|
|
NM_001130438.3(SPTAN1):c.465A>G (p.Leu155=)
|
rs2130966272
|
|
NM_001130438.3(SPTAN1):c.4716A>G (p.Gln1572=)
|
rs755612920
|
|
NM_001130438.3(SPTAN1):c.4733C>A (p.Ser1578Ter)
|
rs756887707
|
|
NM_001130438.3(SPTAN1):c.4759-7T>C
|
|
|
NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp)
|
rs1131691643
|
|
NM_001130438.3(SPTAN1):c.4829G>A (p.Arg1610Gln)
|
rs1564286745
|
|
NM_001130438.3(SPTAN1):c.4938G>C (p.Gln1646His)
|
|
|
NM_001130438.3(SPTAN1):c.4958C>A (p.Ala1653Glu)
|
rs374723711
|
|
NM_001130438.3(SPTAN1):c.4976T>C (p.Leu1659Pro)
|
rs1589327320
|
|
NM_001130438.3(SPTAN1):c.513T>C (p.Ile171=)
|
rs777942959
|
|
NM_001130438.3(SPTAN1):c.518C>G (p.Thr173Ser)
|
rs2130975716
|
|
NM_001130438.3(SPTAN1):c.5206G>A (p.Asp1736Asn)
|
rs148294757
|
|
NM_001130438.3(SPTAN1):c.5248C>T (p.Arg1750Cys)
|
|
|
NM_001130438.3(SPTAN1):c.5264A>G (p.Lys1755Arg)
|
rs1857087403
|
|
NM_001130438.3(SPTAN1):c.528G>T (p.Glu176Asp)
|
rs1589179214
|
|
NM_001130438.3(SPTAN1):c.5388C>G (p.Asp1796Glu)
|
|
|
NM_001130438.3(SPTAN1):c.5396G>A (p.Arg1799Gln)
|
|
|
NM_001130438.3(SPTAN1):c.5400C>G (p.Asp1800Glu)
|
rs779973472
|
|
NM_001130438.3(SPTAN1):c.5452C>G (p.Leu1818Val)
|
rs2131791669
|
|
NM_001130438.3(SPTAN1):c.5459C>T (p.Ala1820Val)
|
|
|
NM_001130438.3(SPTAN1):c.5461C>T (p.His1821Tyr)
|
rs1589352062
|
|
NM_001130438.3(SPTAN1):c.5470G>A (p.Ala1824Thr)
|
rs796053320
|
|
NM_001130438.3(SPTAN1):c.5493T>A (p.Thr1831=)
|
|
|
NM_001130438.3(SPTAN1):c.5509G>A (p.Asp1837Asn)
|
|
|
NM_001130438.3(SPTAN1):c.5529A>G (p.Lys1843=)
|
rs776079416
|
|
NM_001130438.3(SPTAN1):c.5572A>G (p.Lys1858Glu)
|
|
|
NM_001130438.3(SPTAN1):c.55C>T (p.Arg19Trp)
|
rs748232676
|
|
NM_001130438.3(SPTAN1):c.5725G>A (p.Ala1909Thr)
|
|
|
NM_001130438.3(SPTAN1):c.5806A>G (p.Thr1936Ala)
|
rs1857810076
|
|
NM_001130438.3(SPTAN1):c.5809A>G (p.Asn1937Asp)
|
rs1554764758
|
|
NM_001130438.3(SPTAN1):c.5826T>A (p.Ile1942=)
|
|
|
NM_001130438.3(SPTAN1):c.5833-216del
|
rs11444346
|
|
NM_001130438.3(SPTAN1):c.5833-216dup
|
rs11444346
|
|
NM_001130438.3(SPTAN1):c.5833-226_5833-216del
|
rs11444346
|
|
NM_001130438.3(SPTAN1):c.5833-227_5833-216del
|
rs11444346
|
|
NM_001130438.3(SPTAN1):c.583C>T (p.Gln195Ter)
|
rs2130976217
|
|
NM_001130438.3(SPTAN1):c.5921A>G (p.Lys1974Arg)
|
rs1858423393
|
|
NM_001130438.3(SPTAN1):c.5950C>A (p.Leu1984Ile)
|
rs1440498629
|
|
NM_001130438.3(SPTAN1):c.5984C>T (p.Ser1995Phe)
|
|
|
NM_001130438.3(SPTAN1):c.5992+224C>T
|
rs376940683
|
|
NM_001130438.3(SPTAN1):c.5992+42T>C
|
|
|
NM_001130438.3(SPTAN1):c.6027T>G (p.Tyr2009Ter)
|
rs1554766334
|
|
NM_001130438.3(SPTAN1):c.6031C>T (p.Arg2011Ter)
|
rs2131938862
|
|
NM_001130438.3(SPTAN1):c.6070-12C>T
|
rs771489152
|
|
NM_001130438.3(SPTAN1):c.6082G>A (p.Ala2028Thr)
|
|
|
NM_001130438.3(SPTAN1):c.6135dup (p.Asp2046fs)
|
|
|
NM_001130438.3(SPTAN1):c.6139C>G (p.Gln2047Glu)
|
|
|
NM_001130438.3(SPTAN1):c.6171G>A (p.Lys2057=)
|
|
|
NM_001130438.3(SPTAN1):c.6241AAG[2] (p.Lys2083del)
|
rs1858669268
|
|
NM_001130438.3(SPTAN1):c.6266G>C (p.Ser2089Thr)
|
|
|
NM_001130438.3(SPTAN1):c.6270C>A (p.His2090Gln)
|
rs370102482
|
|
NM_001130438.3(SPTAN1):c.6275G>A (p.Arg2092His)
|
rs1301624113
|
|
NM_001130438.3(SPTAN1):c.6319G>A (p.Ala2107Thr)
|
rs1131691448
|
|
NM_001130438.3(SPTAN1):c.6356_6357insC (p.Leu2119fs)
|
rs2131965616
|
|
NM_001130438.3(SPTAN1):c.6418G>A (p.Ala2140Thr)
|
|
|
NM_001130438.3(SPTAN1):c.6479G>A (p.Arg2160His)
|
|
|
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=)
|
rs72758823
|
|
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=)
|
rs72758823
|
|
NM_001130438.3(SPTAN1):c.6500T>C (p.Val2167Ala)
|
rs2131968096
|
|
NM_001130438.3(SPTAN1):c.651+37A>C
|
rs2297769
|
|
NM_001130438.3(SPTAN1):c.6546G>A (p.Glu2182=)
|
rs1239717990
|
|
NM_001130438.3(SPTAN1):c.6574A>G (p.Lys2192Glu)
|
rs2131969031
|
|
NM_001130438.3(SPTAN1):c.6605_6607del (p.Gln2202del)
|
rs398122865
|
|
NM_001130438.3(SPTAN1):c.6606G>C (p.Gln2202His)
|
rs1357160380
|
|
NM_001130438.3(SPTAN1):c.6610C>T (p.Arg2204Trp)
|
rs1057524104
|
|
NM_001130438.3(SPTAN1):c.6611G>A (p.Arg2204Gln)
|
rs1858936991
|
|
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del)
|
rs587784438
|
|
NM_001130438.3(SPTAN1):c.6652C>T (p.His2218Tyr)
|
rs886043546
|
|
NM_001130438.3(SPTAN1):c.6706G>A (p.Gly2236Arg)
|
|
|
NM_001130438.3(SPTAN1):c.6707+10_6707+12delinsTTC
|
rs1589395833
|
|
NM_001130438.3(SPTAN1):c.6708-1186C>T
|
|
|
NM_001130438.3(SPTAN1):c.6739G>A (p.Glu2247Lys)
|
rs1859500394
|
|
NM_001130438.3(SPTAN1):c.6749T>C (p.Leu2250Pro)
|
|
|
NM_001130438.3(SPTAN1):c.6762+152TC[4]
|
rs34039280
|
|
NM_001130438.3(SPTAN1):c.6762+273C>G
|
rs28562867
|
|
NM_001130438.3(SPTAN1):c.6762+288T>G
|
rs7852794
|
|
NM_001130438.3(SPTAN1):c.6763-6C>A
|
rs543227930
|
|
NM_001130438.3(SPTAN1):c.6781C>T (p.Arg2261Ter)
|
rs1859856446
|
|
NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys)
|
rs1859859572
|
|
NM_001130438.3(SPTAN1):c.6852CAA[1] (p.Asn2285del)
|
rs2132088873
|
|
NM_001130438.3(SPTAN1):c.6869A>G (p.His2290Arg)
|
rs2132089221
|
|
NM_001130438.3(SPTAN1):c.6886G>A (p.Ala2296Thr)
|
rs2132089475
|
|
NM_001130438.3(SPTAN1):c.6887C>T (p.Ala2296Val)
|
rs2132089514
|
|
NM_001130438.3(SPTAN1):c.6895T>C (p.Trp2299Arg)
|
rs2132089667
|
|
NM_001130438.3(SPTAN1):c.6899A>T (p.Asp2300Val)
|
rs796053327
|
|
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1])
|
rs587784440
|
|
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])
|
rs587784440
|
|
NM_001130438.3(SPTAN1):c.6910_6918dup (p.Gln2304_Gly2306dup)
|
rs796053334
|
|
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup)
|
rs796053335
|
|
NM_001130438.3(SPTAN1):c.6918C>A (p.Gly2306=)
|
|
|
NM_001130438.3(SPTAN1):c.6960-3C>T
|
|
|
NM_001130438.3(SPTAN1):c.6986C>T (p.Ala2329Val)
|
|
|
NM_001130438.3(SPTAN1):c.698_723del (p.Val233fs)
|
rs1554741638
|
|
NM_001130438.3(SPTAN1):c.7005G>C (p.Met2335Ile)
|
|
|
NM_001130438.3(SPTAN1):c.7013+7T>C
|
rs776507647
|
|
NM_001130438.3(SPTAN1):c.7031A>G (p.Lys2344Arg)
|
|
|
NM_001130438.3(SPTAN1):c.7061A>C (p.Lys2354Thr)
|
rs768911375
|
|
NM_001130438.3(SPTAN1):c.7075T>C (p.Ser2359Pro)
|
rs2132100320
|
|
NM_001130438.3(SPTAN1):c.7102G>C (p.Glu2368Gln)
|
rs796053329
|
|
NM_001130438.3(SPTAN1):c.7121C>G (p.Pro2374Arg)
|
rs796053330
|
|
NM_001130438.3(SPTAN1):c.7129G>C (p.Glu2377Gln)
|
rs757162652
|
|
NM_001130438.3(SPTAN1):c.7137C>T (p.Ile2379=)
|
rs1859968782
|
|
NM_001130438.3(SPTAN1):c.7160+10_7160+13del
|
rs554161838
|
|
NM_001130438.3(SPTAN1):c.7161-7C>T
|
rs908872634
|
|
NM_001130438.3(SPTAN1):c.7208G>A (p.Arg2403His)
|
rs1280116999
|
|
NM_001130438.3(SPTAN1):c.725G>C (p.Gly242Ala)
|
|
|
NM_001130438.3(SPTAN1):c.7309-12_7309-11del
|
rs770948927
|
|
NM_001130438.3(SPTAN1):c.7355C>T (p.Pro2452Leu)
|
|
|
NM_001130438.3(SPTAN1):c.7395C>A (p.Phe2465Leu)
|
rs752878085
|
|
NM_001130438.3(SPTAN1):c.7425C>T (p.Phe2475=)
|
|
|
NM_001130438.3(SPTAN1):c.761C>A (p.Ala254Glu)
|
rs794727784
|
|
NM_001130438.3(SPTAN1):c.807T>C (p.Ser269=)
|
|
|
NM_001130438.3(SPTAN1):c.82C>T (p.Arg28Cys)
|
rs1850092105
|
|
NM_001130438.3(SPTAN1):c.852C>T (p.Gly284=)
|
rs1454898745
|
|
NM_001130438.3(SPTAN1):c.862G>A (p.Ala288Thr)
|
|
|
NM_001130438.3(SPTAN1):c.872del (p.Gln291fs)
|
rs1564211389
|
|
NM_001130438.3(SPTAN1):c.915T>A (p.Ala305=)
|
rs1589188817
|
|
NM_001130438.3(SPTAN1):c.937G>C (p.Ala313Pro)
|
rs778408492
|
|
NM_001130438.3(SPTAN1):c.939C>T (p.Ala313=)
|
rs2131014238
|
|
NM_001130438.3(SPTAN1):c.96C>T (p.Leu32=)
|
rs1589149611
|
|