NM_001130438.3(SPTAN1):c.5085A>G (p.Leu1695=)
|
rs1415568
|
0.98480
|
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.6708-47G>A
|
rs7866175
|
0.93246
|
NM_001130438.3(SPTAN1):c.3486C>T (p.Leu1162=)
|
rs2227864
|
0.74835
|
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.6280-27C>T
|
rs3737308
|
0.71407
|
NM_001130438.3(SPTAN1):c.5479-41A>C
|
rs7864187
|
0.22153
|
NM_001130438.3(SPTAN1):c.3546T>C (p.Asp1182=)
|
rs945831
|
0.03378
|
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.2872-42G>A
|
rs4307429
|
0.02839
|
NM_001130438.3(SPTAN1):c.1221+11C>T
|
rs113357847
|
0.02463
|
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.1462-27T>A
|
rs7040737
|
0.02284
|
NM_001130438.3(SPTAN1):c.6708-7C>T
|
rs16930539
|
0.01980
|
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.2194-13T>G
|
rs28676915
|
0.00932
|
NM_001130438.3(SPTAN1):c.5925G>A (p.Ala1975=)
|
rs11543345
|
0.00816
|
NM_001130438.3(SPTAN1):c.6660C>T (p.Asn2220=)
|
rs112955915
|
0.00645
|
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.4410C>T (p.Thr1470=)
|
rs2228951
|
0.00509
|
NM_001130438.3(SPTAN1):c.652-6G>A
|
rs115815276
|
0.00436
|
NM_001130438.3(SPTAN1):c.5019G>A (p.Lys1673=)
|
rs114745823
|
0.00429
|
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.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.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.930+17G>A
|
rs117436936
|
0.00069
|
NM_001130438.3(SPTAN1):c.5478+12G>A
|
rs41275900
|
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.7161-9C>T
|
rs187613754
|
0.00061
|
NM_001130438.3(SPTAN1):c.786-17G>T
|
rs367832791
|
0.00056
|
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.5523C>T (p.Ile1841=)
|
rs79569204
|
0.00039
|
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.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.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.7365C>T (p.Asp2455=)
|
rs142777123
|
0.00020
|
NM_001130438.3(SPTAN1):c.4260T>G (p.Leu1420=)
|
rs146150071
|
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.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.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.1324-12T>C
|
rs371641680
|
0.00011
|
NM_001130438.3(SPTAN1):c.1806+15G>T
|
rs372203791
|
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.3441G>A (p.Leu1147=)
|
rs113157213
|
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.4224C>T (p.His1408=)
|
rs200180598
|
0.00009
|
NM_001130438.3(SPTAN1):c.4905+20G>A
|
rs200959763
|
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.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.6235G>A (p.Ala2079Thr)
|
rs377253398
|
0.00008
|
NM_001130438.3(SPTAN1):c.6763C>T (p.Arg2255Cys)
|
rs372779649
|
0.00008
|
NM_001130438.3(SPTAN1):c.237+4C>T
|
rs371350283
|
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.2205T>C (p.Asp735=)
|
rs781437907
|
0.00006
|
NM_001130438.3(SPTAN1):c.238-9C>T
|
rs367687143
|
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.5648A>G (p.Asn1883Ser)
|
rs200248814
|
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.3520-19T>G
|
rs373387372
|
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.7284C>T (p.Tyr2428=)
|
rs201348505
|
0.00005
|
NM_001130438.3(SPTAN1):c.943T>C (p.Cys315Arg)
|
rs776064912
|
0.00005
|
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.2224C>T (p.Arg742Cys)
|
rs780658554
|
0.00004
|
NM_001130438.3(SPTAN1):c.3186A>T (p.Val1062=)
|
rs372807389
|
0.00004
|
NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp)
|
rs569997507
|
0.00004
|
NM_001130438.3(SPTAN1):c.3779A>G (p.Asn1260Ser)
|
rs552623597
|
0.00004
|
NM_001130438.3(SPTAN1):c.4046+4C>T
|
rs370704701
|
0.00004
|
NM_001130438.3(SPTAN1):c.4310G>A (p.Arg1437His)
|
rs752347538
|
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.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.3156-10C>T
|
rs745910160
|
0.00003
|
NM_001130438.3(SPTAN1):c.3156G>A (p.Gln1052=)
|
rs749768274
|
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.6151G>A (p.Ala2051Thr)
|
rs777950008
|
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.7128C>T (p.Phe2376=)
|
rs369792563
|
0.00003
|
NM_001130438.3(SPTAN1):c.7222G>A (p.Val2408Ile)
|
rs1057520841
|
0.00003
|
NM_001130438.3(SPTAN1):c.126T>C (p.Asp42=)
|
rs547012864
|
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.4280G>A (p.Arg1427His)
|
rs762216368
|
0.00002
|
NM_001130438.3(SPTAN1):c.4785G>A (p.Gln1595=)
|
rs746824729
|
0.00002
|
NM_001130438.3(SPTAN1):c.511A>G (p.Ile171Val)
|
rs771906889
|
0.00002
|
NM_001130438.3(SPTAN1):c.5274G>A (p.Ala1758=)
|
rs775305903
|
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.6183C>T (p.Ala2061=)
|
rs775886527
|
0.00002
|
NM_001130438.3(SPTAN1):c.641A>G (p.Lys214Arg)
|
rs760419507
|
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.1092A>G (p.Gln364=)
|
rs570171059
|
0.00001
|
NM_001130438.3(SPTAN1):c.1286C>T (p.Ala429Val)
|
rs368876195
|
0.00001
|
NM_001130438.3(SPTAN1):c.1502G>A (p.Ser501Asn)
|
rs1347944186
|
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.1677C>T (p.His559=)
|
rs587784432
|
0.00001
|
NM_001130438.3(SPTAN1):c.1691G>A (p.Arg564His)
|
rs201168391
|
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.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.2552T>C (p.Val851Ala)
|
rs748110014
|
0.00001
|
NM_001130438.3(SPTAN1):c.2599G>A (p.Glu867Lys)
|
rs1339046005
|
0.00001
|
NM_001130438.3(SPTAN1):c.2645G>A (p.Arg882His)
|
rs1486021166
|
0.00001
|
NM_001130438.3(SPTAN1):c.3060C>T (p.Tyr1020=)
|
rs530361602
|
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.3519+5G>T
|
rs915019884
|
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.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.416G>A (p.Arg139Gln)
|
rs773288631
|
0.00001
|
NM_001130438.3(SPTAN1):c.4555A>G (p.Lys1519Glu)
|
rs576419070
|
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.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.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.6055C>A (p.Leu2019Ile)
|
rs796053310
|
0.00001
|
NM_001130438.3(SPTAN1):c.6148G>A (p.Ala2050Thr)
|
rs762645157
|
0.00001
|
NM_001130438.3(SPTAN1):c.6213C>G (p.Ser2071Arg)
|
rs754910706
|
0.00001
|
NM_001130438.3(SPTAN1):c.6270C>T (p.His2090=)
|
rs370102482
|
0.00001
|
NM_001130438.3(SPTAN1):c.649C>G (p.Gln217Glu)
|
rs756290749
|
0.00001
|
NM_001130438.3(SPTAN1):c.652-5T>C
|
rs1029752624
|
0.00001
|
NM_001130438.3(SPTAN1):c.6764G>A (p.Arg2255His)
|
rs201693154
|
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.7260C>T (p.Ala2420=)
|
rs760748641
|
0.00001
|
NM_001130438.3(SPTAN1):c.785+12G>C
|
rs774982401
|
0.00001
|
NM_001130438.3(SPTAN1):c.979C>T (p.Leu327=)
|
rs587784442
|
0.00001
|
NM_001130438.3(SPTAN1):c.1085+4C>T
|
|
|
NM_001130438.3(SPTAN1):c.1086-18_1086-17delinsAA
|
rs1554742449
|
|
NM_001130438.3(SPTAN1):c.1112G>A (p.Arg371His)
|
rs1554742488
|
|
NM_001130438.3(SPTAN1):c.117G>A (p.Lys39=)
|
rs1057523805
|
|
NM_001130438.3(SPTAN1):c.1584A>G (p.Glu528=)
|
rs767443717
|
|
NM_001130438.3(SPTAN1):c.1807-17C>T
|
rs1057524223
|
|
NM_001130438.3(SPTAN1):c.1807-7T>G
|
rs1554745600
|
|
NM_001130438.3(SPTAN1):c.201A>G (p.Ala67=)
|
|
|
NM_001130438.3(SPTAN1):c.2343C>T (p.Ala781=)
|
rs34084388
|
|
NM_001130438.3(SPTAN1):c.2778+10C>A
|
rs369106919
|
|
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+10dup
|
|
|
NM_001130438.3(SPTAN1):c.2951G>A (p.Arg984Gln)
|
rs1057521149
|
|
NM_001130438.3(SPTAN1):c.3057G>A (p.Ala1019=)
|
rs759833805
|
|
NM_001130438.3(SPTAN1):c.3118G>A (p.Gly1040Ser)
|
rs796053302
|
|
NM_001130438.3(SPTAN1):c.3155+17G>T
|
rs765814431
|
|
NM_001130438.3(SPTAN1):c.3156-4G>A
|
rs549061995
|
|
NM_001130438.3(SPTAN1):c.315T>C (p.Thr105=)
|
rs1182605348
|
|
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.3486C>G (p.Leu1162=)
|
rs2227864
|
|
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.363+1G>A
|
rs1554737064
|
|
NM_001130438.3(SPTAN1):c.3664G>T (p.Ala1222Ser)
|
rs796053306
|
|
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.4047-14G>T
|
rs558154123
|
|
NM_001130438.3(SPTAN1):c.4083G>A (p.Leu1361=)
|
rs1057523448
|
|
NM_001130438.3(SPTAN1):c.4146+20delinsAC
|
rs1554757479
|
|
NM_001130438.3(SPTAN1):c.4147-13C>T
|
rs374834326
|
|
NM_001130438.3(SPTAN1):c.4215G>T (p.Leu1405=)
|
rs754607337
|
|
NM_001130438.3(SPTAN1):c.4272C>T (p.Asp1424=)
|
rs1554757619
|
|
NM_001130438.3(SPTAN1):c.4288C>G (p.Leu1430Val)
|
rs1057523806
|
|
NM_001130438.3(SPTAN1):c.4551T>C (p.Tyr1517=)
|
rs570247500
|
|
NM_001130438.3(SPTAN1):c.4774-12del
|
rs1064795314
|
|
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.505-20C>T
|
rs779640676
|
|
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.5358-12TC[2]
|
rs769628464
|
|
NM_001130438.3(SPTAN1):c.5358-5T>A
|
rs1057524585
|
|
NM_001130438.3(SPTAN1):c.5379C>T (p.Gly1793=)
|
rs1554763002
|
|
NM_001130438.3(SPTAN1):c.5406C>G (p.Thr1802=)
|
rs2227862
|
|
NM_001130438.3(SPTAN1):c.5479-5G>A
|
rs1554763238
|
|
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.5993-10C>G
|
rs773841663
|
|
NM_001130438.3(SPTAN1):c.6069+7C>T
|
rs1554766358
|
|
NM_001130438.3(SPTAN1):c.6090G>A (p.Leu2030=)
|
rs761497643
|
|
NM_001130438.3(SPTAN1):c.6193T>C (p.Ser2065Pro)
|
rs796053311
|
|
NM_001130438.3(SPTAN1):c.6247_6248delinsCT (p.Lys2083Leu)
|
rs1064794380
|
|
NM_001130438.3(SPTAN1):c.6254T>C (p.Leu2085Pro)
|
rs1564315528
|
|
NM_001130438.3(SPTAN1):c.6273_6274delinsTT (p.Arg2092Cys)
|
rs796053333
|
|
NM_001130438.3(SPTAN1):c.6343G>T (p.Ala2115Ser)
|
rs1057522441
|
|
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.6703G>A (p.Asp2235Asn)
|
rs1085307862
|
|
NM_001130438.3(SPTAN1):c.6762+10C>A
|
rs367706466
|
|
NM_001130438.3(SPTAN1):c.6841C>A (p.Leu2281Ile)
|
rs1341044436
|
|
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])
|
rs587784440
|
|
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.7102G>C (p.Glu2368Gln)
|
rs796053329
|
|
NM_001130438.3(SPTAN1):c.7160+10_7160+13del
|
rs554161838
|
|
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.785+20T>C
|
rs529962403
|
|
NM_001130438.3(SPTAN1):c.862G>C (p.Ala288Pro)
|
rs796053298
|
|
NM_001130438.3(SPTAN1):c.906A>G (p.Arg302=)
|
rs1554741933
|
|