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.2343C>A (p.Ala781=)
|
rs34084388
|
0.03062
|
NM_001130438.3(SPTAN1):c.2163= (p.Ala721=)
|
rs10760566
|
0.03060
|
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.1221+11C>T
|
rs113357847
|
0.02463
|
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.7389C>T (p.Thr2463=)
|
rs2228952
|
0.02352
|
NM_001130438.3(SPTAN1):c.3300G>A (p.Ala1100=)
|
rs2227865
|
0.02288
|
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.6708-7C>T
|
rs16930539
|
0.01980
|
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.5085= (p.Leu1695=)
|
rs1415568
|
0.01520
|
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.2194-13T>G
|
rs28676915
|
0.00932
|
NM_001130438.3(SPTAN1):c.6762+151A>C
|
rs139321348
|
0.00904
|
NM_001130438.3(SPTAN1):c.5925G>A (p.Ala1975=)
|
rs11543345
|
0.00816
|
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.1710C>T (p.Ala570=)
|
rs115428827
|
0.00551
|
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.4410C>T (p.Thr1470=)
|
rs2228951
|
0.00509
|
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.5019G>A (p.Lys1673=)
|
rs114745823
|
0.00429
|
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.931-16C>T
|
rs149289060
|
0.00285
|
NM_001130438.3(SPTAN1):c.774G>A (p.Gln258=)
|
rs138609094
|
0.00257
|
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala)
|
rs144787939
|
0.00217
|
NM_001130438.3(SPTAN1):c.5358-16C>T
|
rs143969764
|
0.00187
|
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.1807-11T>C
|
rs139049596
|
0.00116
|
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.6960-8T>C
|
rs140241053
|
0.00078
|
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu)
|
rs143108250
|
0.00073
|
NM_001130438.3(SPTAN1):c.930+17G>A
|
rs117436936
|
0.00069
|
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.2778+20G>A
|
rs201463905
|
0.00066
|
NM_001130438.3(SPTAN1):c.5790C>T (p.Arg1930=)
|
rs144435438
|
0.00061
|
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.786-17G>T
|
rs367832791
|
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.5523C>T (p.Ile1841=)
|
rs79569204
|
0.00039
|
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser)
|
rs145038571
|
0.00038
|
NM_001130438.3(SPTAN1):c.5415G>A (p.Gln1805=)
|
rs142964132
|
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.1651-17G>A
|
rs372860106
|
0.00027
|
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.2778+18G>A
|
rs372896131
|
0.00024
|
NM_001130438.3(SPTAN1):c.6042T>G (p.Ser2014=)
|
rs142830725
|
0.00023
|
NM_001130438.3(SPTAN1):c.3849G>A (p.Ala1283=)
|
rs117614529
|
0.00022
|
NM_001130438.3(SPTAN1):c.4116C>T (p.Thr1372=)
|
rs148554113
|
0.00021
|
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.7365C>T (p.Asp2455=)
|
rs142777123
|
0.00020
|
NM_001130438.3(SPTAN1):c.3235C>G (p.Leu1079Val)
|
rs559839676
|
0.00019
|
NM_001130438.3(SPTAN1):c.4260T>G (p.Leu1420=)
|
rs146150071
|
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.108G>A (p.Arg36=)
|
rs371017342
|
0.00017
|
NM_001130438.3(SPTAN1):c.4905+19C>T
|
rs140922514
|
0.00017
|
NM_001130438.3(SPTAN1):c.6417C>T (p.Asp2139=)
|
rs140418358
|
0.00016
|
NM_001130438.3(SPTAN1):c.1011G>A (p.Glu337=)
|
rs376280897
|
0.00014
|
NM_001130438.3(SPTAN1):c.1086-4C>G
|
rs367718622
|
0.00014
|
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.413T>C (p.Met138Thr)
|
rs767527240
|
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.4773+13T>A
|
rs539111821
|
0.00012
|
NM_001130438.3(SPTAN1):c.4774-18T>A
|
rs534497861
|
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.1324-12T>C
|
rs371641680
|
0.00011
|
NM_001130438.3(SPTAN1):c.1806+15G>T
|
rs372203791
|
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.6576+12G>A
|
rs144725581
|
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.3441G>A (p.Leu1147=)
|
rs113157213
|
0.00010
|
NM_001130438.3(SPTAN1):c.5820C>T (p.Asp1940=)
|
rs147815147
|
0.00010
|
NM_001130438.3(SPTAN1):c.7013+18C>T
|
rs368329742
|
0.00010
|
NM_001130438.3(SPTAN1):c.1154A>G (p.Asn385Ser)
|
rs2227863
|
0.00009
|
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.4905+20G>A
|
rs200959763
|
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.6654C>T (p.His2218=)
|
rs372825476
|
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.7402G>A (p.Val2468Met)
|
rs754362594
|
0.00009
|
NM_001130438.3(SPTAN1):c.2233C>A (p.Gln745Lys)
|
rs769094437
|
0.00008
|
NM_001130438.3(SPTAN1):c.237+10A>G
|
rs746224717
|
0.00008
|
NM_001130438.3(SPTAN1):c.2760G>A (p.Lys920=)
|
rs773435271
|
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.237+4C>T
|
rs371350283
|
0.00007
|
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.7419G>A (p.Ser2473=)
|
rs375649697
|
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.2205T>C (p.Asp735=)
|
rs781437907
|
0.00006
|
NM_001130438.3(SPTAN1):c.238-9C>T
|
rs367687143
|
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.4437C>T (p.Ser1479=)
|
rs373857333
|
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.6195C>T (p.Ser2065=)
|
rs760243298
|
0.00006
|
NM_001130438.3(SPTAN1):c.6689+17G>A
|
rs143675512
|
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.3520-19T>G
|
rs373387372
|
0.00005
|
NM_001130438.3(SPTAN1):c.3639G>A (p.Glu1213=)
|
rs750007543
|
0.00005
|
NM_001130438.3(SPTAN1):c.4188G>A (p.Gln1396=)
|
rs763156575
|
0.00005
|
NM_001130438.3(SPTAN1):c.4540G>A (p.Ala1514Thr)
|
rs145551982
|
0.00005
|
NM_001130438.3(SPTAN1):c.5331C>T (p.Asp1777=)
|
rs758017157
|
0.00005
|
NM_001130438.3(SPTAN1):c.7284C>T (p.Tyr2428=)
|
rs201348505
|
0.00005
|
NM_001130438.3(SPTAN1):c.7390G>A (p.Ala2464Thr)
|
rs544843583
|
0.00005
|
NM_001130438.3(SPTAN1):c.943T>C (p.Cys315Arg)
|
rs776064912
|
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.1536T>C (p.Phe512=)
|
rs762887917
|
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.3779A>G (p.Asn1260Ser)
|
rs552623597
|
0.00004
|
NM_001130438.3(SPTAN1):c.4045C>T (p.Arg1349Trp)
|
rs771862017
|
0.00004
|
NM_001130438.3(SPTAN1):c.4046+4C>T
|
rs370704701
|
0.00004
|
NM_001130438.3(SPTAN1):c.4309C>T (p.Arg1437Cys)
|
rs373033857
|
0.00004
|
NM_001130438.3(SPTAN1):c.4310G>A (p.Arg1437His)
|
rs752347538
|
0.00004
|
NM_001130438.3(SPTAN1):c.4345-14C>T
|
rs201755611
|
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.6762+11G>A
|
rs775553506
|
0.00004
|
NM_001130438.3(SPTAN1):c.6825C>T (p.Ala2275=)
|
rs755559513
|
0.00004
|
NM_001130438.3(SPTAN1):c.6858G>A (p.Lys2286=)
|
rs750291744
|
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.7248C>T (p.Ser2416=)
|
rs148984013
|
0.00004
|
NM_001130438.3(SPTAN1):c.7401C>T (p.Tyr2467=)
|
rs766927132
|
0.00004
|
NM_001130438.3(SPTAN1):c.1215G>A (p.Glu405=)
|
rs750970364
|
0.00003
|
NM_001130438.3(SPTAN1):c.1247G>A (p.Ser416Asn)
|
rs773663318
|
0.00003
|
NM_001130438.3(SPTAN1):c.1348G>T (p.Ala450Ser)
|
rs768940761
|
0.00003
|
NM_001130438.3(SPTAN1):c.1362G>C (p.Glu454Asp)
|
rs144590741
|
0.00003
|
NM_001130438.3(SPTAN1):c.1962T>C (p.Asn654=)
|
rs748193081
|
0.00003
|
NM_001130438.3(SPTAN1):c.3156G>A (p.Gln1052=)
|
rs749768274
|
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.4905+7C>T
|
rs752304112
|
0.00003
|
NM_001130438.3(SPTAN1):c.4906-15C>T
|
rs756241253
|
0.00003
|
NM_001130438.3(SPTAN1):c.5064C>T (p.Ser1688=)
|
rs1046339532
|
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.6762+10C>T
|
rs367706466
|
0.00003
|
NM_001130438.3(SPTAN1):c.6864G>A (p.Thr2288=)
|
rs577730526
|
0.00003
|
NM_001130438.3(SPTAN1):c.6959+15T>C
|
rs776795375
|
0.00003
|
NM_001130438.3(SPTAN1):c.6959+6C>T
|
rs542848685
|
0.00003
|
NM_001130438.3(SPTAN1):c.6959+7G>A
|
rs373990901
|
0.00003
|
NM_001130438.3(SPTAN1):c.7014-16C>T
|
rs137913528
|
0.00003
|
NM_001130438.3(SPTAN1):c.7128C>T (p.Phe2376=)
|
rs369792563
|
0.00003
|
NM_001130438.3(SPTAN1):c.7222G>A (p.Val2408Ile)
|
rs1057520841
|
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.126T>C (p.Asp42=)
|
rs547012864
|
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.134G>A (p.Arg45Gln)
|
rs760552878
|
0.00002
|
NM_001130438.3(SPTAN1):c.1350G>A (p.Ala450=)
|
rs374478564
|
0.00002
|
NM_001130438.3(SPTAN1):c.1461+14A>C
|
rs376751145
|
0.00002
|
NM_001130438.3(SPTAN1):c.1550G>C (p.Ser517Thr)
|
rs755356541
|
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.2796C>T (p.His932=)
|
rs755933560
|
0.00002
|
NM_001130438.3(SPTAN1):c.2985C>T (p.Thr995=)
|
rs777441722
|
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.4280G>A (p.Arg1427His)
|
rs762216368
|
0.00002
|
NM_001130438.3(SPTAN1):c.4525G>A (p.Asp1509Asn)
|
rs757714696
|
0.00002
|
NM_001130438.3(SPTAN1):c.4785G>A (p.Gln1595=)
|
rs746824729
|
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.5358-18T>A
|
rs754212051
|
0.00002
|
NM_001130438.3(SPTAN1):c.5468C>T (p.Pro1823Leu)
|
rs561973288
|
0.00002
|
NM_001130438.3(SPTAN1):c.5724C>T (p.Ala1908=)
|
rs886063507
|
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.6726G>A (p.Glu2242=)
|
rs745750589
|
0.00002
|
NM_001130438.3(SPTAN1):c.7074C>T (p.Arg2358=)
|
rs771456936
|
0.00002
|
NM_001130438.3(SPTAN1):c.7090C>T (p.Leu2364=)
|
rs374893683
|
0.00002
|
NM_001130438.3(SPTAN1):c.7129G>A (p.Glu2377Lys)
|
rs757162652
|
0.00002
|
NM_001130438.3(SPTAN1):c.1092A>G (p.Gln364=)
|
rs570171059
|
0.00001
|
NM_001130438.3(SPTAN1):c.1286C>T (p.Ala429Val)
|
rs368876195
|
0.00001
|
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.1520A>C (p.Lys507Thr)
|
rs375343189
|
0.00001
|
NM_001130438.3(SPTAN1):c.1542A>G (p.Lys514=)
|
rs763879792
|
0.00001
|
NM_001130438.3(SPTAN1):c.1593C>G (p.Thr531=)
|
rs1057520489
|
0.00001
|
NM_001130438.3(SPTAN1):c.1621A>G (p.Met541Val)
|
rs796053315
|
0.00001
|
NM_001130438.3(SPTAN1):c.1677C>T (p.His559=)
|
rs587784432
|
0.00001
|
NM_001130438.3(SPTAN1):c.1691G>A (p.Arg564His)
|
rs201168391
|
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.1824A>G (p.Gln608=)
|
rs1057523726
|
0.00001
|
NM_001130438.3(SPTAN1):c.1869A>T (p.Ala623=)
|
rs1057523195
|
0.00001
|
NM_001130438.3(SPTAN1):c.1883T>C (p.Ile628Thr)
|
rs1564224960
|
0.00001
|
NM_001130438.3(SPTAN1):c.1953T>C (p.Ala651=)
|
rs376957536
|
0.00001
|
NM_001130438.3(SPTAN1):c.1955G>A (p.Arg652His)
|
rs370062384
|
0.00001
|
NM_001130438.3(SPTAN1):c.2159A>G (p.His720Arg)
|
rs759274173
|
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.2552T>C (p.Val851Ala)
|
rs748110014
|
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.2763C>T (p.Asp921=)
|
rs761166458
|
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.3156-11C>G
|
rs781434997
|
0.00001
|
NM_001130438.3(SPTAN1):c.3160C>T (p.Arg1054Cys)
|
rs200872929
|
0.00001
|
NM_001130438.3(SPTAN1):c.3161G>A (p.Arg1054His)
|
rs561564501
|
0.00001
|
NM_001130438.3(SPTAN1):c.3337G>A (p.Ala1113Thr)
|
rs143309753
|
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.3587G>C (p.Arg1196Pro)
|
rs781124530
|
0.00001
|
NM_001130438.3(SPTAN1):c.3599A>G (p.His1200Arg)
|
rs745798632
|
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.3762A>G (p.Gln1254=)
|
rs533042543
|
0.00001
|
NM_001130438.3(SPTAN1):c.3816A>G (p.Gln1272=)
|
rs745997127
|
0.00001
|
NM_001130438.3(SPTAN1):c.3865-7C>T
|
rs1248978165
|
0.00001
|
NM_001130438.3(SPTAN1):c.4133T>C (p.Leu1378Pro)
|
rs776728710
|
0.00001
|
NM_001130438.3(SPTAN1):c.416G>A (p.Arg139Gln)
|
rs773288631
|
0.00001
|
NM_001130438.3(SPTAN1):c.4276G>C (p.Glu1426Gln)
|
rs1796996192
|
0.00001
|
NM_001130438.3(SPTAN1):c.4555A>G (p.Lys1519Glu)
|
rs576419070
|
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.4596-19C>G
|
rs1317299803
|
0.00001
|
NM_001130438.3(SPTAN1):c.4604G>A (p.Arg1535His)
|
rs745394212
|
0.00001
|
NM_001130438.3(SPTAN1):c.4930C>G (p.Gln1644Glu)
|
rs1312145167
|
0.00001
|
NM_001130438.3(SPTAN1):c.505-18C>T
|
rs1057522078
|
0.00001
|
NM_001130438.3(SPTAN1):c.5148+17G>A
|
rs758490204
|
0.00001
|
NM_001130438.3(SPTAN1):c.5149-10C>T
|
rs587784437
|
0.00001
|
NM_001130438.3(SPTAN1):c.5245G>A (p.Gly1749Arg)
|
rs771886198
|
0.00001
|
NM_001130438.3(SPTAN1):c.5281C>T (p.Arg1761Trp)
|
rs764247109
|
0.00001
|
NM_001130438.3(SPTAN1):c.5508C>T (p.Ser1836=)
|
rs777780283
|
0.00001
|
NM_001130438.3(SPTAN1):c.5832+9A>G
|
rs1431187706
|
0.00001
|
NM_001130438.3(SPTAN1):c.5880C>T (p.Asn1960=)
|
rs372782253
|
0.00001
|
NM_001130438.3(SPTAN1):c.5922G>C (p.Lys1974Asn)
|
rs777407223
|
0.00001
|
NM_001130438.3(SPTAN1):c.5973C>T (p.Asp1991=)
|
rs1060504931
|
0.00001
|
NM_001130438.3(SPTAN1):c.6014A>G (p.Lys2005Arg)
|
rs754276364
|
0.00001
|
NM_001130438.3(SPTAN1):c.6055C>A (p.Leu2019Ile)
|
rs796053310
|
0.00001
|
NM_001130438.3(SPTAN1):c.6078T>C (p.Phe2026=)
|
rs776794393
|
0.00001
|
NM_001130438.3(SPTAN1):c.6148G>A (p.Ala2050Thr)
|
rs762645157
|
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.6213C>G (p.Ser2071Arg)
|
rs754910706
|
0.00001
|
NM_001130438.3(SPTAN1):c.6228C>G (p.Asn2076Lys)
|
rs752560514
|
0.00001
|
NM_001130438.3(SPTAN1):c.6270C>T (p.His2090=)
|
rs370102482
|
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.652-5T>C
|
rs1029752624
|
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.6959+5C>G
|
rs1057523269
|
0.00001
|
NM_001130438.3(SPTAN1):c.7013+19G>A
|
rs370654629
|
0.00001
|
NM_001130438.3(SPTAN1):c.7209C>T (p.Arg2403=)
|
rs778129817
|
0.00001
|
NM_001130438.3(SPTAN1):c.7260C>T (p.Ala2420=)
|
rs760748641
|
0.00001
|
NM_001130438.3(SPTAN1):c.785+12G>C
|
rs774982401
|
0.00001
|
NM_001130438.3(SPTAN1):c.891C>T (p.His297=)
|
rs774303070
|
0.00001
|
NM_001130438.3(SPTAN1):c.979C>T (p.Leu327=)
|
rs587784442
|
0.00001
|
NM_001130438.3(SPTAN1):c.*148C>T
|
rs113912557
|
|
NM_001130438.3(SPTAN1):c.1050G>A (p.Ala350=)
|
rs752710398
|
|
NM_001130438.3(SPTAN1):c.1086-18_1086-17delinsAA
|
rs1554742449
|
|
NM_001130438.3(SPTAN1):c.1086-220dup
|
rs11464671
|
|
NM_001130438.3(SPTAN1):c.1105G>C (p.Asp369His)
|
|
|
NM_001130438.3(SPTAN1):c.1112G>A (p.Arg371His)
|
rs1554742488
|
|
NM_001130438.3(SPTAN1):c.1162G>A (p.Glu388Lys)
|
rs2131029996
|
|
NM_001130438.3(SPTAN1):c.1170_1175delinsAAGTGT (p.Asp392Val)
|
|
|
NM_001130438.3(SPTAN1):c.117G>A (p.Lys39=)
|
rs1057523805
|
|
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.1298A>T (p.Tyr433Phe)
|
rs2131062140
|
|
NM_001130438.3(SPTAN1):c.1300G>T (p.Ala434Ser)
|
|
|
NM_001130438.3(SPTAN1):c.1334T>C (p.Leu445Pro)
|
|
|
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.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.1688T>C (p.Met563Thr)
|
rs377387388
|
|
NM_001130438.3(SPTAN1):c.1739G>A (p.Arg580His)
|
|
|
NM_001130438.3(SPTAN1):c.1807-17C>T
|
rs1057524223
|
|
NM_001130438.3(SPTAN1):c.1807-7T>G
|
rs1554745600
|
|
NM_001130438.3(SPTAN1):c.1949C>T (p.Ala650Val)
|
rs1057524587
|
|
NM_001130438.3(SPTAN1):c.2011+30G>A
|
rs76351026
|
|
NM_001130438.3(SPTAN1):c.2066A>G (p.Asp689Gly)
|
|
|
NM_001130438.3(SPTAN1):c.2094A>C (p.Glu698Asp)
|
rs1554746116
|
|
NM_001130438.3(SPTAN1):c.2193+3A>G
|
|
|
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.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.2402G>A (p.Arg801Gln)
|
rs774283264
|
|
NM_001130438.3(SPTAN1):c.2463T>C (p.Asn821=)
|
rs2131169854
|
|
NM_001130438.3(SPTAN1):c.2560+189del
|
rs11382658
|
|
NM_001130438.3(SPTAN1):c.2560+189dup
|
rs11382658
|
|
NM_001130438.3(SPTAN1):c.2660A>C (p.Glu887Ala)
|
|
|
NM_001130438.3(SPTAN1):c.2666_2668del (p.Ser889del)
|
rs796053332
|
|
NM_001130438.3(SPTAN1):c.2752T>C (p.Tyr918His)
|
rs1589224403
|
|
NM_001130438.3(SPTAN1):c.2778+10C>A
|
rs369106919
|
|
NM_001130438.3(SPTAN1):c.2778+71_2778+73del
|
rs150632298
|
|
NM_001130438.3(SPTAN1):c.2779-2A>G
|
|
|
NM_001130438.3(SPTAN1):c.2785C>T (p.Leu929=)
|
rs1057522083
|
|
NM_001130438.3(SPTAN1):c.2857G>T (p.Ala953Ser)
|
rs796053300
|
|
NM_001130438.3(SPTAN1):c.2861A>C (p.Gln954Pro)
|
rs796053301
|
|
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.2951G>A (p.Arg984Gln)
|
rs1057521149
|
|
NM_001130438.3(SPTAN1):c.2988dup (p.Leu997fs)
|
rs2131267665
|
|
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.3118G>A (p.Gly1040Ser)
|
rs796053302
|
|
NM_001130438.3(SPTAN1):c.3139G>A (p.Glu1047Lys)
|
rs1853536448
|
|
NM_001130438.3(SPTAN1):c.3155+17G>T
|
rs765814431
|
|
NM_001130438.3(SPTAN1):c.3155+305C>T
|
rs112366038
|
|
NM_001130438.3(SPTAN1):c.3156-4G>A
|
rs549061995
|
|
NM_001130438.3(SPTAN1):c.315T>C (p.Thr105=)
|
rs1182605348
|
|
NM_001130438.3(SPTAN1):c.3171G>T (p.Lys1057Asn)
|
|
|
NM_001130438.3(SPTAN1):c.3215+15_3215+16del
|
rs551595039
|
|
NM_001130438.3(SPTAN1):c.3262G>A (p.Glu1088Lys)
|
rs780374369
|
|
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.3572C>T (p.Pro1191Leu)
|
rs796053304
|
|
NM_001130438.3(SPTAN1):c.3574T>C (p.Trp1192Arg)
|
rs796053305
|
|
NM_001130438.3(SPTAN1):c.3580-5_3580-2del
|
rs754528571
|
|
NM_001130438.3(SPTAN1):c.3664G>T (p.Ala1222Ser)
|
rs796053306
|
|
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.3891G>A (p.Glu1297=)
|
rs774930310
|
|
NM_001130438.3(SPTAN1):c.3967A>G (p.Ser1323Gly)
|
rs796053307
|
|
NM_001130438.3(SPTAN1):c.3991C>A (p.Arg1331Ser)
|
rs1407200590
|
|
NM_001130438.3(SPTAN1):c.4046+241A>G
|
rs7028880
|
|
NM_001130438.3(SPTAN1):c.4046+5G>A
|
rs541570752
|
|
NM_001130438.3(SPTAN1):c.4047-14G>T
|
rs558154123
|
|
NM_001130438.3(SPTAN1):c.4083G>A (p.Leu1361=)
|
rs1057523448
|
|
NM_001130438.3(SPTAN1):c.4139G>A (p.Arg1380Gln)
|
|
|
NM_001130438.3(SPTAN1):c.4146+20delinsAC
|
rs1554757479
|
|
NM_001130438.3(SPTAN1):c.4147-13C>T
|
rs374834326
|
|
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.4215G>T (p.Leu1405=)
|
rs754607337
|
|
NM_001130438.3(SPTAN1):c.4231T>C (p.Tyr1411His)
|
rs2131617024
|
|
NM_001130438.3(SPTAN1):c.4288C>G (p.Leu1430Val)
|
rs1057523806
|
|
NM_001130438.3(SPTAN1):c.4357G>C (p.Asp1453His)
|
|
|
NM_001130438.3(SPTAN1):c.4457A>C (p.Lys1486Thr)
|
|
|
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.4774-12del
|
rs1064795314
|
|
NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp)
|
rs1131691643
|
|
NM_001130438.3(SPTAN1):c.4884C>T (p.Ala1628=)
|
rs759241143
|
|
NM_001130438.3(SPTAN1):c.4887C>T (p.Gly1629=)
|
rs1057522726
|
|
NM_001130438.3(SPTAN1):c.4905+19dup
|
rs763250092
|
|
NM_001130438.3(SPTAN1):c.4925C>A (p.Ala1642Asp)
|
rs1057522444
|
|
NM_001130438.3(SPTAN1):c.4938G>C (p.Gln1646His)
|
|
|
NM_001130438.3(SPTAN1):c.4958C>A (p.Ala1653Glu)
|
rs374723711
|
|
NM_001130438.3(SPTAN1):c.505-20C>T
|
rs779640676
|
|
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.5264A>G (p.Lys1755Arg)
|
rs1857087403
|
|
NM_001130438.3(SPTAN1):c.5304C>T (p.Ser1768=)
|
rs1057524335
|
|
NM_001130438.3(SPTAN1):c.5350T>C (p.Trp1784Arg)
|
rs796053309
|
|
NM_001130438.3(SPTAN1):c.5358-5T>A
|
rs1057524585
|
|
NM_001130438.3(SPTAN1):c.5379C>T (p.Gly1793=)
|
rs1554763002
|
|
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.5470G>A (p.Ala1824Thr)
|
rs796053320
|
|
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.5649T>C (p.Asn1883=)
|
rs1057522205
|
|
NM_001130438.3(SPTAN1):c.5688C>A (p.Thr1896=)
|
rs749391487
|
|
NM_001130438.3(SPTAN1):c.5733+12A>G
|
rs769356785
|
|
NM_001130438.3(SPTAN1):c.5734-11T>G
|
rs1057521318
|
|
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.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.5984C>T (p.Ser1995Phe)
|
|
|
NM_001130438.3(SPTAN1):c.5992+224C>T
|
rs376940683
|
|
NM_001130438.3(SPTAN1):c.5993-10C>G
|
rs773841663
|
|
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.6069+7C>T
|
rs1554766358
|
|
NM_001130438.3(SPTAN1):c.6070-12C>T
|
rs771489152
|
|
NM_001130438.3(SPTAN1):c.6082G>A (p.Ala2028Thr)
|
|
|
NM_001130438.3(SPTAN1):c.6090G>A (p.Leu2030=)
|
rs761497643
|
|
NM_001130438.3(SPTAN1):c.6135dup (p.Asp2046fs)
|
|
|
NM_001130438.3(SPTAN1):c.6139C>G (p.Gln2047Glu)
|
|
|
NM_001130438.3(SPTAN1):c.6193T>C (p.Ser2065Pro)
|
rs796053311
|
|
NM_001130438.3(SPTAN1):c.6241AAG[2] (p.Lys2083del)
|
rs1858669268
|
|
NM_001130438.3(SPTAN1):c.6247_6248delinsCT (p.Lys2083Leu)
|
rs1064794380
|
|
NM_001130438.3(SPTAN1):c.6266G>C (p.Ser2089Thr)
|
|
|
NM_001130438.3(SPTAN1):c.6270C>A (p.His2090Gln)
|
rs370102482
|
|
NM_001130438.3(SPTAN1):c.6273_6274delinsTT (p.Arg2092Cys)
|
rs796053333
|
|
NM_001130438.3(SPTAN1):c.6319G>A (p.Ala2107Thr)
|
rs1131691448
|
|
NM_001130438.3(SPTAN1):c.6343G>T (p.Ala2115Ser)
|
rs1057522441
|
|
NM_001130438.3(SPTAN1):c.6356_6357insC (p.Leu2119fs)
|
rs2131965616
|
|
NM_001130438.3(SPTAN1):c.6478C>T (p.Arg2160Cys)
|
rs780696613
|
|
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.651+37A>C
|
rs2297769
|
|
NM_001130438.3(SPTAN1):c.6577-10del
|
rs1064794959
|
|
NM_001130438.3(SPTAN1):c.6577-13dup
|
rs761170802
|
|
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.6616GAG[1] (p.Glu2207del)
|
rs587784438
|
|
NM_001130438.3(SPTAN1):c.6703G>A (p.Asp2235Asn)
|
rs1085307862
|
|
NM_001130438.3(SPTAN1):c.6706G>A (p.Gly2236Arg)
|
|
|
NM_001130438.3(SPTAN1):c.6707+10_6707+12delinsTTC
|
rs1589395833
|
|
NM_001130438.3(SPTAN1):c.6749T>C (p.Leu2250Pro)
|
|
|
NM_001130438.3(SPTAN1):c.6762+10C>A
|
rs367706466
|
|
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.6852CAA[1] (p.Asn2285del)
|
rs2132088873
|
|
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.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.6959+5C>T
|
rs1057523269
|
|
NM_001130438.3(SPTAN1):c.6960G>A (p.Arg2320=)
|
rs1276832919
|
|
NM_001130438.3(SPTAN1):c.7014-16_7014-13delinsAGGT
|
rs796053336
|
|
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.7160+10_7160+13del
|
rs554161838
|
|
NM_001130438.3(SPTAN1):c.7208G>A (p.Arg2403His)
|
rs1280116999
|
|
NM_001130438.3(SPTAN1):c.727C>G (p.Leu243Val)
|
rs1462279694
|
|
NM_001130438.3(SPTAN1):c.7308+9del
|
rs1191675267
|
|
NM_001130438.3(SPTAN1):c.7309-12_7309-11del
|
rs770948927
|
|
NM_001130438.3(SPTAN1):c.7395C>A (p.Phe2465Leu)
|
rs752878085
|
|
NM_001130438.3(SPTAN1):c.785+20T>C
|
rs529962403
|
|
NM_001130438.3(SPTAN1):c.82C>T (p.Arg28Cys)
|
rs1850092105
|
|
NM_001130438.3(SPTAN1):c.862G>C (p.Ala288Pro)
|
rs796053298
|
|
NM_001130438.3(SPTAN1):c.906A>G (p.Arg302=)
|
rs1554741933
|
|
NM_001130438.3(SPTAN1):c.937G>C (p.Ala313Pro)
|
rs778408492
|
|