NM_001130438.3(SPTAN1):c.5085A>G (p.Leu1695=)
|
rs1415568
|
0.98480
|
NM_001130438.3(SPTAN1):c.2163A>C (p.Ala721=)
|
rs10760566
|
0.96940
|
NM_001130438.3(SPTAN1):c.3486C>T (p.Leu1162=)
|
rs2227864
|
0.74835
|
NM_001130438.3(SPTAN1):c.5406C>T (p.Thr1802=)
|
rs2227862
|
0.72171
|
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.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.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.237+11T>G
|
rs768283186
|
0.00088
|
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.7161-9C>T
|
rs187613754
|
0.00061
|
NM_001130438.3(SPTAN1):c.6408G>C (p.Glu2136Asp)
|
rs199930602
|
0.00058
|
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.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.4146+19_4146+20insA
|
rs554731574
|
0.00016
|
NM_001130438.3(SPTAN1):c.4146+20G>C
|
rs560213432
|
0.00016
|
NM_001130438.3(SPTAN1):c.6417C>T (p.Asp2139=)
|
rs140418358
|
0.00016
|
NM_001130438.3(SPTAN1):c.4850T>C (p.Met1617Thr)
|
rs753106083
|
0.00015
|
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.3519+13_3519+14del
|
rs764260912
|
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.1527C>T (p.His509=)
|
rs201555611
|
0.00011
|
NM_001130438.3(SPTAN1):c.1806+15G>T
|
rs372203791
|
0.00011
|
NM_001130438.3(SPTAN1):c.1916T>C (p.Ile639Thr)
|
rs1427892796
|
0.00011
|
NM_001130438.3(SPTAN1):c.2871+9G>A
|
rs774094821
|
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.4243G>C (p.Glu1415Gln)
|
rs745697305
|
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.5833-10C>T
|
rs1389531374
|
0.00009
|
NM_001130438.3(SPTAN1):c.6190G>A (p.Ala2064Thr)
|
rs201411901
|
0.00009
|
NM_001130438.3(SPTAN1):c.6405C>T (p.Arg2135=)
|
rs767640999
|
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.5949C>T (p.Phe1983=)
|
rs762358113
|
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.237+4C>T
|
rs371350283
|
0.00007
|
NM_001130438.3(SPTAN1):c.5872G>T (p.Gly1958Cys)
|
rs920545433
|
0.00007
|
NM_001130438.3(SPTAN1):c.6608G>A (p.Arg2203Gln)
|
rs560719289
|
0.00007
|
NM_001130438.3(SPTAN1):c.6826G>A (p.Ala2276Thr)
|
rs375244907
|
0.00007
|
NM_001130438.3(SPTAN1):c.6885C>T (p.Leu2295=)
|
rs76767787
|
0.00007
|
NM_001130438.3(SPTAN1):c.7330G>A (p.Asp2444Asn)
|
rs147149360
|
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.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.3007-16C>A
|
rs377381640
|
0.00006
|
NM_001130438.3(SPTAN1):c.4046G>A (p.Arg1349Gln)
|
rs149367932
|
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.4492-8T>C
|
rs778949349
|
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.5817A>G (p.Gln1939=)
|
rs578124150
|
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.6709T>A (p.Ser2237Thr)
|
rs770532796
|
0.00006
|
NM_001130438.3(SPTAN1):c.7199T>C (p.Met2400Thr)
|
rs145054594
|
0.00006
|
NM_001130438.3(SPTAN1):c.1645G>A (p.Asp549Asn)
|
rs868661967
|
0.00005
|
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.2561-18T>C
|
rs369772583
|
0.00005
|
NM_001130438.3(SPTAN1):c.2871+8T>C
|
rs1485998372
|
0.00005
|
NM_001130438.3(SPTAN1):c.3156-13C>T
|
rs371673291
|
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.3719+17G>A
|
rs539026080
|
0.00005
|
NM_001130438.3(SPTAN1):c.3915G>A (p.Glu1305=)
|
rs761628910
|
0.00005
|
NM_001130438.3(SPTAN1):c.391T>C (p.Trp131Arg)
|
rs142120579
|
0.00005
|
NM_001130438.3(SPTAN1):c.4075C>T (p.Arg1359Trp)
|
rs150944593
|
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.4959G>A (p.Ala1653=)
|
rs775224497
|
0.00005
|
NM_001130438.3(SPTAN1):c.5331C>T (p.Asp1777=)
|
rs758017157
|
0.00005
|
NM_001130438.3(SPTAN1):c.5478+13C>T
|
rs369615023
|
0.00005
|
NM_001130438.3(SPTAN1):c.6247A>C (p.Lys2083Gln)
|
rs757178508
|
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.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.1581T>A (p.Asp527Glu)
|
rs971082831
|
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.2224C>T (p.Arg742Cys)
|
rs780658554
|
0.00004
|
NM_001130438.3(SPTAN1):c.2277G>A (p.Gln759=)
|
rs746674327
|
0.00004
|
NM_001130438.3(SPTAN1):c.2688T>C (p.Phe896=)
|
rs780858157
|
0.00004
|
NM_001130438.3(SPTAN1):c.2925C>T (p.Leu975=)
|
rs757453262
|
0.00004
|
NM_001130438.3(SPTAN1):c.3030C>T (p.Asn1010=)
|
rs202129574
|
0.00004
|
NM_001130438.3(SPTAN1):c.3134G>A (p.Arg1045Gln)
|
rs368406599
|
0.00004
|
NM_001130438.3(SPTAN1):c.3177C>T (p.Ala1059=)
|
rs369531936
|
0.00004
|
NM_001130438.3(SPTAN1):c.3186A>T (p.Val1062=)
|
rs372807389
|
0.00004
|
NM_001130438.3(SPTAN1):c.3215+15A>G
|
rs367678277
|
0.00004
|
NM_001130438.3(SPTAN1):c.3215+20T>G
|
rs781343185
|
0.00004
|
NM_001130438.3(SPTAN1):c.3510G>A (p.Val1170=)
|
rs935038001
|
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.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.4345-16C>T
|
rs549736000
|
0.00004
|
NM_001130438.3(SPTAN1):c.4533C>T (p.Leu1511=)
|
rs375026050
|
0.00004
|
NM_001130438.3(SPTAN1):c.4662A>G (p.Gln1554=)
|
rs767679923
|
0.00004
|
NM_001130438.3(SPTAN1):c.4800T>C (p.Phe1600=)
|
rs370609436
|
0.00004
|
NM_001130438.3(SPTAN1):c.505-4A>T
|
rs377129746
|
0.00004
|
NM_001130438.3(SPTAN1):c.529C>T (p.Leu177=)
|
rs145554993
|
0.00004
|
NM_001130438.3(SPTAN1):c.5409C>T (p.Gly1803=)
|
rs768322079
|
0.00004
|
NM_001130438.3(SPTAN1):c.5479-15G>A
|
rs377449636
|
0.00004
|
NM_001130438.3(SPTAN1):c.5856C>T (p.Ile1952=)
|
rs141474640
|
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.6150C>T (p.Ala2050=)
|
rs141602301
|
0.00004
|
NM_001130438.3(SPTAN1):c.6496C>T (p.Arg2166Cys)
|
rs775190610
|
0.00004
|
NM_001130438.3(SPTAN1):c.6576+11C>T
|
rs374482693
|
0.00004
|
NM_001130438.3(SPTAN1):c.6711C>G (p.Ser2237=)
|
rs151012062
|
0.00004
|
NM_001130438.3(SPTAN1):c.6762+11G>A
|
rs775553506
|
0.00004
|
NM_001130438.3(SPTAN1):c.6763-8C>T
|
rs761978444
|
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.7308+7G>A
|
rs373772795
|
0.00004
|
NM_001130438.3(SPTAN1):c.7309-3C>A
|
rs777355476
|
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.1418A>G (p.Tyr473Cys)
|
rs200948972
|
0.00003
|
NM_001130438.3(SPTAN1):c.1462-10C>T
|
rs1469011739
|
0.00003
|
NM_001130438.3(SPTAN1):c.1936A>G (p.Lys646Glu)
|
rs903037131
|
0.00003
|
NM_001130438.3(SPTAN1):c.1962T>C (p.Asn654=)
|
rs748193081
|
0.00003
|
NM_001130438.3(SPTAN1):c.2117A>G (p.Tyr706Cys)
|
rs1473149290
|
0.00003
|
NM_001130438.3(SPTAN1):c.2201T>C (p.Ile734Thr)
|
rs1214164128
|
0.00003
|
NM_001130438.3(SPTAN1):c.2287G>A (p.Val763Met)
|
rs372062686
|
0.00003
|
NM_001130438.3(SPTAN1):c.2393C>T (p.Thr798Met)
|
rs749263783
|
0.00003
|
NM_001130438.3(SPTAN1):c.2548A>C (p.Met850Leu)
|
rs371776794
|
0.00003
|
NM_001130438.3(SPTAN1):c.2572G>T (p.Ala858Ser)
|
rs1185428521
|
0.00003
|
NM_001130438.3(SPTAN1):c.2778+8G>C
|
rs375037363
|
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.3216-19C>A
|
rs368814792
|
0.00003
|
NM_001130438.3(SPTAN1):c.3248G>A (p.Arg1083His)
|
rs369611161
|
0.00003
|
NM_001130438.3(SPTAN1):c.3448A>G (p.Ile1150Val)
|
rs145516440
|
0.00003
|
NM_001130438.3(SPTAN1):c.363+18G>A
|
rs376019489
|
0.00003
|
NM_001130438.3(SPTAN1):c.3941G>A (p.Cys1314Tyr)
|
rs776648566
|
0.00003
|
NM_001130438.3(SPTAN1):c.4028G>A (p.Arg1343His)
|
rs539724071
|
0.00003
|
NM_001130438.3(SPTAN1):c.4261G>T (p.Asp1421Tyr)
|
rs749333383
|
0.00003
|
NM_001130438.3(SPTAN1):c.4351C>G (p.His1451Asp)
|
rs772533230
|
0.00003
|
NM_001130438.3(SPTAN1):c.4479G>A (p.Ala1493=)
|
rs201716851
|
0.00003
|
NM_001130438.3(SPTAN1):c.4491+6G>A
|
rs748113883
|
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.497A>G (p.Asn166Ser)
|
rs139943747
|
0.00003
|
NM_001130438.3(SPTAN1):c.5064C>T (p.Ser1688=)
|
rs1046339532
|
0.00003
|
NM_001130438.3(SPTAN1):c.5205C>T (p.Phe1735=)
|
rs757734927
|
0.00003
|
NM_001130438.3(SPTAN1):c.5239A>G (p.Ile1747Val)
|
rs780622472
|
0.00003
|
NM_001130438.3(SPTAN1):c.5308C>T (p.Arg1770Cys)
|
rs371055930
|
0.00003
|
NM_001130438.3(SPTAN1):c.5340C>T (p.Asp1780=)
|
rs549528366
|
0.00003
|
NM_001130438.3(SPTAN1):c.5469G>A (p.Pro1823=)
|
rs142234188
|
0.00003
|
NM_001130438.3(SPTAN1):c.5553G>A (p.Ala1851=)
|
rs759088264
|
0.00003
|
NM_001130438.3(SPTAN1):c.5700C>T (p.Ser1900=)
|
rs779393161
|
0.00003
|
NM_001130438.3(SPTAN1):c.6151G>A (p.Ala2051Thr)
|
rs777950008
|
0.00003
|
NM_001130438.3(SPTAN1):c.6280-5T>A
|
rs746651127
|
0.00003
|
NM_001130438.3(SPTAN1):c.6497G>A (p.Arg2166His)
|
rs200834733
|
0.00003
|
NM_001130438.3(SPTAN1):c.6499G>A (p.Val2167Ile)
|
rs371095095
|
0.00003
|
NM_001130438.3(SPTAN1):c.651+13G>A
|
rs200409897
|
0.00003
|
NM_001130438.3(SPTAN1):c.6689+10C>T
|
rs769263723
|
0.00003
|
NM_001130438.3(SPTAN1):c.6689+20G>A
|
rs768065593
|
0.00003
|
NM_001130438.3(SPTAN1):c.6707+10G>C
|
rs374760508
|
0.00003
|
NM_001130438.3(SPTAN1):c.6762+10C>T
|
rs367706466
|
0.00003
|
NM_001130438.3(SPTAN1):c.6810C>T (p.Ile2270=)
|
rs558449802
|
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+4C>T
|
rs902275859
|
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.7302C>T (p.Leu2434=)
|
rs758405090
|
0.00003
|
NM_001130438.3(SPTAN1):c.7378G>A (p.Glu2460Lys)
|
rs200531434
|
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.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.1548T>C (p.Leu516=)
|
rs909370953
|
0.00002
|
NM_001130438.3(SPTAN1):c.1550G>C (p.Ser517Thr)
|
rs755356541
|
0.00002
|
NM_001130438.3(SPTAN1):c.1602T>G (p.Ile534Met)
|
rs560390110
|
0.00002
|
NM_001130438.3(SPTAN1):c.1648G>T (p.Ala550Ser)
|
rs371178746
|
0.00002
|
NM_001130438.3(SPTAN1):c.1664G>A (p.Arg555His)
|
rs139998823
|
0.00002
|
NM_001130438.3(SPTAN1):c.1683A>G (p.Arg561=)
|
rs772119238
|
0.00002
|
NM_001130438.3(SPTAN1):c.1707A>G (p.Leu569=)
|
rs757578154
|
0.00002
|
NM_001130438.3(SPTAN1):c.1758G>A (p.Lys586=)
|
rs758019827
|
0.00002
|
NM_001130438.3(SPTAN1):c.1770T>G (p.Asn590Lys)
|
rs781048881
|
0.00002
|
NM_001130438.3(SPTAN1):c.2108C>T (p.Ser703Leu)
|
rs866425525
|
0.00002
|
NM_001130438.3(SPTAN1):c.2193+6G>C
|
rs751573290
|
0.00002
|
NM_001130438.3(SPTAN1):c.2194-19T>C
|
rs371322683
|
0.00002
|
NM_001130438.3(SPTAN1):c.237+5G>A
|
rs747501430
|
0.00002
|
NM_001130438.3(SPTAN1):c.2438-19G>T
|
rs760955571
|
0.00002
|
NM_001130438.3(SPTAN1):c.2560+8del
|
rs768243872
|
0.00002
|
NM_001130438.3(SPTAN1):c.2589C>G (p.Ala863=)
|
rs528752928
|
0.00002
|
NM_001130438.3(SPTAN1):c.2696C>G (p.Ala899Gly)
|
rs745746027
|
0.00002
|
NM_001130438.3(SPTAN1):c.2720G>T (p.Arg907Leu)
|
rs780303413
|
0.00002
|
NM_001130438.3(SPTAN1):c.2778+17A>G
|
rs757140291
|
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.3155+12A>G
|
rs184577750
|
0.00002
|
NM_001130438.3(SPTAN1):c.3183T>C (p.Ser1061=)
|
rs776441600
|
0.00002
|
NM_001130438.3(SPTAN1):c.3216-15C>G
|
rs762562811
|
0.00002
|
NM_001130438.3(SPTAN1):c.3219T>C (p.Tyr1073=)
|
rs761538979
|
0.00002
|
NM_001130438.3(SPTAN1):c.3579+10C>T
|
rs1417674497
|
0.00002
|
NM_001130438.3(SPTAN1):c.357C>T (p.Thr119=)
|
rs759573145
|
0.00002
|
NM_001130438.3(SPTAN1):c.3641G>A (p.Arg1214His)
|
rs780184944
|
0.00002
|
NM_001130438.3(SPTAN1):c.3719+9_3719+10insTC
|
rs896571703
|
0.00002
|
NM_001130438.3(SPTAN1):c.3985G>C (p.Asp1329His)
|
rs1368132952
|
0.00002
|
NM_001130438.3(SPTAN1):c.4017C>T (p.His1339=)
|
rs745529207
|
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.4265T>C (p.Ile1422Thr)
|
rs140159000
|
0.00002
|
NM_001130438.3(SPTAN1):c.4279C>T (p.Arg1427Cys)
|
rs774559979
|
0.00002
|
NM_001130438.3(SPTAN1):c.4280G>A (p.Arg1427His)
|
rs762216368
|
0.00002
|
NM_001130438.3(SPTAN1):c.4524C>T (p.Ala1508=)
|
rs371100708
|
0.00002
|
NM_001130438.3(SPTAN1):c.4525G>A (p.Asp1509Asn)
|
rs757714696
|
0.00002
|
NM_001130438.3(SPTAN1):c.4564A>G (p.Ile1522Val)
|
rs764323424
|
0.00002
|
NM_001130438.3(SPTAN1):c.4725T>C (p.Ser1575=)
|
rs753055605
|
0.00002
|
NM_001130438.3(SPTAN1):c.4758+3A>C
|
rs774108521
|
0.00002
|
NM_001130438.3(SPTAN1):c.4785G>A (p.Gln1595=)
|
rs746824729
|
0.00002
|
NM_001130438.3(SPTAN1):c.4809G>A (p.Glu1603=)
|
rs745887395
|
0.00002
|
NM_001130438.3(SPTAN1):c.4822G>A (p.Ala1608Thr)
|
rs775707176
|
0.00002
|
NM_001130438.3(SPTAN1):c.4991A>G (p.Lys1664Arg)
|
rs757109566
|
0.00002
|
NM_001130438.3(SPTAN1):c.504+4C>T
|
rs755742062
|
0.00002
|
NM_001130438.3(SPTAN1):c.5044-16G>C
|
rs747282086
|
0.00002
|
NM_001130438.3(SPTAN1):c.511A>G (p.Ile171Val)
|
rs771906889
|
0.00002
|
NM_001130438.3(SPTAN1):c.5139T>C (p.Ser1713=)
|
rs755166792
|
0.00002
|
NM_001130438.3(SPTAN1):c.5269A>G (p.Met1757Val)
|
rs141483578
|
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.5377G>A (p.Gly1793Ser)
|
rs780658978
|
0.00002
|
NM_001130438.3(SPTAN1):c.5392G>A (p.Gly1798Ser)
|
rs756006714
|
0.00002
|
NM_001130438.3(SPTAN1):c.5468C>T (p.Pro1823Leu)
|
rs561973288
|
0.00002
|
NM_001130438.3(SPTAN1):c.5601-6_5601-5del
|
rs781645028
|
0.00002
|
NM_001130438.3(SPTAN1):c.5685G>A (p.Met1895Ile)
|
rs973076703
|
0.00002
|
NM_001130438.3(SPTAN1):c.5689C>T (p.Leu1897=)
|
rs755434212
|
0.00002
|
NM_001130438.3(SPTAN1):c.5724C>T (p.Ala1908=)
|
rs886063507
|
0.00002
|
NM_001130438.3(SPTAN1):c.57G>A (p.Arg19=)
|
rs1015182699
|
0.00002
|
NM_001130438.3(SPTAN1):c.5913C>T (p.Ala1971=)
|
rs373426828
|
0.00002
|
NM_001130438.3(SPTAN1):c.5943G>A (p.Ser1981=)
|
rs556796231
|
0.00002
|
NM_001130438.3(SPTAN1):c.5993-9G>A
|
rs761329975
|
0.00002
|
NM_001130438.3(SPTAN1):c.6053C>T (p.Thr2018Met)
|
rs904934847
|
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.6300C>G (p.Thr2100=)
|
rs370624702
|
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.6404G>A (p.Arg2135His)
|
rs373259652
|
0.00002
|
NM_001130438.3(SPTAN1):c.6411C>G (p.Ala2137=)
|
rs966742359
|
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.6503C>T (p.Ala2168Val)
|
rs767399516
|
0.00002
|
NM_001130438.3(SPTAN1):c.6534G>A (p.Glu2178=)
|
rs370113838
|
0.00002
|
NM_001130438.3(SPTAN1):c.6577-12T>C
|
rs1004458044
|
0.00002
|
NM_001130438.3(SPTAN1):c.6689+19C>T
|
rs1166975063
|
0.00002
|
NM_001130438.3(SPTAN1):c.6702C>T (p.Leu2234=)
|
rs750819513
|
0.00002
|
NM_001130438.3(SPTAN1):c.6726G>A (p.Glu2242=)
|
rs745750589
|
0.00002
|
NM_001130438.3(SPTAN1):c.678C>T (p.Ile226=)
|
rs1716799949
|
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.7234G>A (p.Glu2412Lys)
|
rs1336849921
|
0.00002
|
NM_001130438.3(SPTAN1):c.7316C>T (p.Thr2439Ile)
|
rs746532292
|
0.00002
|
NM_001130438.3(SPTAN1):c.7418C>T (p.Ser2473Leu)
|
rs371177004
|
0.00002
|
NM_001130438.3(SPTAN1):c.789T>C (p.Asp263=)
|
rs772435490
|
0.00002
|
NM_001130438.3(SPTAN1):c.930+18del
|
rs1564211538
|
0.00002
|
NM_001130438.3(SPTAN1):c.1007G>A (p.Arg336Gln)
|
rs796930106
|
0.00001
|
NM_001130438.3(SPTAN1):c.1039C>T (p.Arg347Cys)
|
rs754066930
|
0.00001
|
NM_001130438.3(SPTAN1):c.1049C>T (p.Ala350Val)
|
rs765337732
|
0.00001
|
NM_001130438.3(SPTAN1):c.1068G>C (p.Arg356=)
|
rs752146614
|
0.00001
|
NM_001130438.3(SPTAN1):c.1086-7T>C
|
rs1382809916
|
0.00001
|
NM_001130438.3(SPTAN1):c.1092A>G (p.Gln364=)
|
rs570171059
|
0.00001
|
NM_001130438.3(SPTAN1):c.111T>A (p.Arg37=)
|
rs774051017
|
0.00001
|
NM_001130438.3(SPTAN1):c.1155T>C (p.Asn385=)
|
rs1325465304
|
0.00001
|
NM_001130438.3(SPTAN1):c.1200A>G (p.Leu400=)
|
rs931502378
|
0.00001
|
NM_001130438.3(SPTAN1):c.1222-12T>C
|
rs1158347123
|
0.00001
|
NM_001130438.3(SPTAN1):c.1233T>C (p.Asp411=)
|
rs1398538214
|
0.00001
|
NM_001130438.3(SPTAN1):c.1248C>T (p.Ser416=)
|
rs1851708614
|
0.00001
|
NM_001130438.3(SPTAN1):c.1258G>A (p.Ala420Thr)
|
rs142410041
|
0.00001
|
NM_001130438.3(SPTAN1):c.1286C>T (p.Ala429Val)
|
rs368876195
|
0.00001
|
NM_001130438.3(SPTAN1):c.129C>T (p.Ser43=)
|
rs1442175070
|
0.00001
|
NM_001130438.3(SPTAN1):c.1306G>A (p.Asp436Asn)
|
rs929796374
|
0.00001
|
NM_001130438.3(SPTAN1):c.1324-11A>G
|
rs771460214
|
0.00001
|
NM_001130438.3(SPTAN1):c.1329C>T (p.Thr443=)
|
rs193111526
|
0.00001
|
NM_001130438.3(SPTAN1):c.1375C>T (p.Arg459Cys)
|
rs772281075
|
0.00001
|
NM_001130438.3(SPTAN1):c.1376G>A (p.Arg459His)
|
rs201948749
|
0.00001
|
NM_001130438.3(SPTAN1):c.1389C>T (p.Tyr463=)
|
rs587784431
|
0.00001
|
NM_001130438.3(SPTAN1):c.1416C>T (p.Phe472=)
|
rs767265808
|
0.00001
|
NM_001130438.3(SPTAN1):c.1458G>A (p.Gln486=)
|
rs753753168
|
0.00001
|
NM_001130438.3(SPTAN1):c.1462G>A (p.Ala488Thr)
|
rs972504988
|
0.00001
|
NM_001130438.3(SPTAN1):c.1495T>C (p.Leu499=)
|
rs748615499
|
0.00001
|
NM_001130438.3(SPTAN1):c.1534T>G (p.Phe512Val)
|
rs147444364
|
0.00001
|
NM_001130438.3(SPTAN1):c.1542A>G (p.Lys514=)
|
rs763879792
|
0.00001
|
NM_001130438.3(SPTAN1):c.1573-13T>C
|
rs1052807020
|
0.00001
|
NM_001130438.3(SPTAN1):c.1575A>G (p.Ala525=)
|
rs1589211921
|
0.00001
|
NM_001130438.3(SPTAN1):c.1593C>G (p.Thr531=)
|
rs1057520489
|
0.00001
|
NM_001130438.3(SPTAN1):c.1608C>T (p.Asn536=)
|
rs1232400211
|
0.00001
|
NM_001130438.3(SPTAN1):c.1621A>G (p.Met541Val)
|
rs796053315
|
0.00001
|
NM_001130438.3(SPTAN1):c.1650+9G>A
|
rs745454196
|
0.00001
|
NM_001130438.3(SPTAN1):c.1677C>T (p.His559=)
|
rs587784432
|
0.00001
|
NM_001130438.3(SPTAN1):c.1684G>T (p.Ala562Ser)
|
rs773328719
|
0.00001
|
NM_001130438.3(SPTAN1):c.1687A>G (p.Met563Val)
|
rs1344488286
|
0.00001
|
NM_001130438.3(SPTAN1):c.1690C>T (p.Arg564Cys)
|
rs759822213
|
0.00001
|
NM_001130438.3(SPTAN1):c.1691G>A (p.Arg564His)
|
rs201168391
|
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.1701C>T (p.Ala567=)
|
rs1391943816
|
0.00001
|
NM_001130438.3(SPTAN1):c.1765G>A (p.Val589Ile)
|
rs746961427
|
0.00001
|
NM_001130438.3(SPTAN1):c.1772A>C (p.Glu591Ala)
|
rs1182873506
|
0.00001
|
NM_001130438.3(SPTAN1):c.1806+6G>C
|
rs760820851
|
0.00001
|
NM_001130438.3(SPTAN1):c.1807-15T>G
|
rs1416846037
|
0.00001
|
NM_001130438.3(SPTAN1):c.1821A>G (p.Leu607=)
|
rs774410639
|
0.00001
|
NM_001130438.3(SPTAN1):c.1824A>G (p.Gln608=)
|
rs1057523726
|
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.201A>T (p.Ala67=)
|
rs765540595
|
0.00001
|
NM_001130438.3(SPTAN1):c.2024G>A (p.Arg675His)
|
rs748338558
|
0.00001
|
NM_001130438.3(SPTAN1):c.2043G>A (p.Gln681=)
|
rs771555109
|
0.00001
|
NM_001130438.3(SPTAN1):c.2058T>C (p.Asn686=)
|
rs1015052595
|
0.00001
|
NM_001130438.3(SPTAN1):c.2109G>A (p.Ser703=)
|
rs369710857
|
0.00001
|
NM_001130438.3(SPTAN1):c.2118C>T (p.Tyr706=)
|
rs760281970
|
0.00001
|
NM_001130438.3(SPTAN1):c.2158C>T (p.His720Tyr)
|
rs191761167
|
0.00001
|
NM_001130438.3(SPTAN1):c.2159A>G (p.His720Arg)
|
rs759274173
|
0.00001
|
NM_001130438.3(SPTAN1):c.2171A>G (p.Glu724Gly)
|
rs374506067
|
0.00001
|
NM_001130438.3(SPTAN1):c.2225G>A (p.Arg742His)
|
rs146412583
|
0.00001
|
NM_001130438.3(SPTAN1):c.2282C>A (p.Ala761Asp)
|
rs770359554
|
0.00001
|
NM_001130438.3(SPTAN1):c.2286C>T (p.Leu762=)
|
rs745436802
|
0.00001
|
NM_001130438.3(SPTAN1):c.2326C>T (p.Arg776Trp)
|
rs148258493
|
0.00001
|
NM_001130438.3(SPTAN1):c.2354G>A (p.Arg785Gln)
|
rs780875433
|
0.00001
|
NM_001130438.3(SPTAN1):c.2371C>A (p.Arg791=)
|
rs769380398
|
0.00001
|
NM_001130438.3(SPTAN1):c.238-8G>A
|
rs750970258
|
0.00001
|
NM_001130438.3(SPTAN1):c.2394G>A (p.Thr798=)
|
rs768271102
|
0.00001
|
NM_001130438.3(SPTAN1):c.2395T>C (p.Trp799Arg)
|
rs1852325939
|
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.2450T>C (p.Ile817Thr)
|
rs1060503490
|
0.00001
|
NM_001130438.3(SPTAN1):c.2464C>T (p.Leu822=)
|
rs765706270
|
0.00001
|
NM_001130438.3(SPTAN1):c.2496A>G (p.Glu832=)
|
rs1245531904
|
0.00001
|
NM_001130438.3(SPTAN1):c.2498T>C (p.Ile833Thr)
|
rs904041405
|
0.00001
|
NM_001130438.3(SPTAN1):c.2557G>A (p.Glu853Lys)
|
rs771925044
|
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.2617G>A (p.Glu873Lys)
|
rs776279771
|
0.00001
|
NM_001130438.3(SPTAN1):c.2644C>T (p.Arg882Cys)
|
rs149528201
|
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.2772T>C (p.Ser924=)
|
rs143939145
|
0.00001
|
NM_001130438.3(SPTAN1):c.2778+7A>C
|
rs1481569035
|
0.00001
|
NM_001130438.3(SPTAN1):c.2799A>G (p.Glu933=)
|
rs1368341471
|
0.00001
|
NM_001130438.3(SPTAN1):c.2838C>G (p.Ile946Met)
|
rs943636575
|
0.00001
|
NM_001130438.3(SPTAN1):c.285C>T (p.Asn95=)
|
rs533717545
|
0.00001
|
NM_001130438.3(SPTAN1):c.2869C>T (p.Arg957Trp)
|
rs781689993
|
0.00001
|
NM_001130438.3(SPTAN1):c.2871+15G>A
|
rs771636267
|
0.00001
|
NM_001130438.3(SPTAN1):c.2910G>A (p.Glu970=)
|
rs763235552
|
0.00001
|
NM_001130438.3(SPTAN1):c.2928C>T (p.Tyr976=)
|
rs756378105
|
0.00001
|
NM_001130438.3(SPTAN1):c.2978T>C (p.Ile993Thr)
|
rs1215852038
|
0.00001
|
NM_001130438.3(SPTAN1):c.3000C>G (p.Thr1000=)
|
rs1194481175
|
0.00001
|
NM_001130438.3(SPTAN1):c.3007-19C>T
|
rs779899640
|
0.00001
|
NM_001130438.3(SPTAN1):c.3027G>A (p.Val1009=)
|
rs774659049
|
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.3075C>T (p.Asp1025=)
|
rs755615190
|
0.00001
|
NM_001130438.3(SPTAN1):c.3081C>G (p.Ala1027=)
|
rs749251486
|
0.00001
|
NM_001130438.3(SPTAN1):c.3083A>G (p.Gln1028Arg)
|
rs768500975
|
0.00001
|
NM_001130438.3(SPTAN1):c.3090C>T (p.Ala1030=)
|
rs1314188538
|
0.00001
|
NM_001130438.3(SPTAN1):c.3101A>G (p.Asn1034Ser)
|
rs773333330
|
0.00001
|
NM_001130438.3(SPTAN1):c.3133C>T (p.Arg1045Trp)
|
rs794727356
|
0.00001
|
NM_001130438.3(SPTAN1):c.3155+17G>A
|
rs765814431
|
0.00001
|
NM_001130438.3(SPTAN1):c.3155A>G (p.Gln1052Arg)
|
rs1362381770
|
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.3181A>G (p.Ser1061Gly)
|
rs1369204255
|
0.00001
|
NM_001130438.3(SPTAN1):c.3193C>T (p.Arg1065Cys)
|
rs587784436
|
0.00001
|
NM_001130438.3(SPTAN1):c.3194G>A (p.Arg1065His)
|
rs199561983
|
0.00001
|
NM_001130438.3(SPTAN1):c.3216-18C>T
|
rs372969086
|
0.00001
|
NM_001130438.3(SPTAN1):c.3282T>C (p.Phe1094=)
|
rs1045745615
|
0.00001
|
NM_001130438.3(SPTAN1):c.3315A>G (p.Gln1105=)
|
rs779226167
|
0.00001
|
NM_001130438.3(SPTAN1):c.3337G>A (p.Ala1113Thr)
|
rs143309753
|
0.00001
|
NM_001130438.3(SPTAN1):c.3357C>T (p.Val1119=)
|
rs1279884865
|
0.00001
|
NM_001130438.3(SPTAN1):c.3358G>A (p.Gly1120Arg)
|
rs748698544
|
0.00001
|
NM_001130438.3(SPTAN1):c.3414+17G>A
|
rs767504664
|
0.00001
|
NM_001130438.3(SPTAN1):c.3414+3A>G
|
rs1554752325
|
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.3519+5G>T
|
rs915019884
|
0.00001
|
NM_001130438.3(SPTAN1):c.3536T>A (p.Met1179Lys)
|
rs564155435
|
0.00001
|
NM_001130438.3(SPTAN1):c.353A>C (p.Glu118Ala)
|
rs1360328239
|
0.00001
|
NM_001130438.3(SPTAN1):c.3543+10G>A
|
rs754641622
|
0.00001
|
NM_001130438.3(SPTAN1):c.3543+12G>A
|
rs376482975
|
0.00001
|
NM_001130438.3(SPTAN1):c.3543+9C>T
|
rs746280203
|
0.00001
|
NM_001130438.3(SPTAN1):c.3561G>T (p.Lys1187Asn)
|
rs950316530
|
0.00001
|
NM_001130438.3(SPTAN1):c.356C>T (p.Thr119Ile)
|
rs1850338993
|
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.3604G>A (p.Val1202Met)
|
rs1312920158
|
0.00001
|
NM_001130438.3(SPTAN1):c.3612C>T (p.Thr1204=)
|
rs1409357698
|
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.363+17C>T
|
rs764216482
|
0.00001
|
NM_001130438.3(SPTAN1):c.363+7A>G
|
rs371781354
|
0.00001
|
NM_001130438.3(SPTAN1):c.3633G>A (p.Leu1211=)
|
rs1484600745
|
0.00001
|
NM_001130438.3(SPTAN1):c.364-19T>C
|
rs200978151
|
0.00001
|
NM_001130438.3(SPTAN1):c.3640C>T (p.Arg1214Cys)
|
rs756099218
|
0.00001
|
NM_001130438.3(SPTAN1):c.3667G>A (p.Glu1223Lys)
|
rs773140619
|
0.00001
|
NM_001130438.3(SPTAN1):c.3681G>A (p.Gln1227=)
|
rs1307231651
|
0.00001
|
NM_001130438.3(SPTAN1):c.368G>A (p.Arg123His)
|
rs775634580
|
0.00001
|
NM_001130438.3(SPTAN1):c.3719+15C>G
|
rs369108363
|
0.00001
|
NM_001130438.3(SPTAN1):c.3720-7C>T
|
rs773023641
|
0.00001
|
NM_001130438.3(SPTAN1):c.3720-8G>A
|
rs771588342
|
0.00001
|
NM_001130438.3(SPTAN1):c.3735C>T (p.Thr1245=)
|
rs942685766
|
0.00001
|
NM_001130438.3(SPTAN1):c.3741A>G (p.Glu1247=)
|
rs1248662462
|
0.00001
|
NM_001130438.3(SPTAN1):c.3762A>G (p.Gln1254=)
|
rs533042543
|
0.00001
|
NM_001130438.3(SPTAN1):c.3785G>A (p.Gly1262Glu)
|
rs901228960
|
0.00001
|
NM_001130438.3(SPTAN1):c.3786A>G (p.Gly1262=)
|
rs199902257
|
0.00001
|
NM_001130438.3(SPTAN1):c.3788A>G (p.His1263Arg)
|
rs1322144803
|
0.00001
|
NM_001130438.3(SPTAN1):c.3801T>C (p.Ser1267=)
|
rs751784689
|
0.00001
|
NM_001130438.3(SPTAN1):c.380T>A (p.Leu127Gln)
|
rs768538310
|
0.00001
|
NM_001130438.3(SPTAN1):c.3816A>G (p.Gln1272=)
|
rs745997127
|
0.00001
|
NM_001130438.3(SPTAN1):c.3856G>A (p.Gly1286Ser)
|
rs769081903
|
0.00001
|
NM_001130438.3(SPTAN1):c.385C>T (p.Arg129Cys)
|
rs964919191
|
0.00001
|
NM_001130438.3(SPTAN1):c.3865-7C>T
|
rs1248978165
|
0.00001
|
NM_001130438.3(SPTAN1):c.386G>A (p.Arg129His)
|
rs774397953
|
0.00001
|
NM_001130438.3(SPTAN1):c.3948G>A (p.Glu1316=)
|
rs1278108281
|
0.00001
|
NM_001130438.3(SPTAN1):c.3965G>A (p.Ser1322Asn)
|
rs756084170
|
0.00001
|
NM_001130438.3(SPTAN1):c.4008T>C (p.Gly1336=)
|
rs780641212
|
0.00001
|
NM_001130438.3(SPTAN1):c.4027C>A (p.Arg1343Ser)
|
rs138827421
|
0.00001
|
NM_001130438.3(SPTAN1):c.4038C>T (p.Ser1346=)
|
rs768542176
|
0.00001
|
NM_001130438.3(SPTAN1):c.4058C>G (p.Ser1353Cys)
|
rs1564278853
|
0.00001
|
NM_001130438.3(SPTAN1):c.4129T>C (p.Leu1377=)
|
rs1220521892
|
0.00001
|
NM_001130438.3(SPTAN1):c.4133T>C (p.Leu1378Pro)
|
rs776728710
|
0.00001
|
NM_001130438.3(SPTAN1):c.4154G>A (p.Arg1385Gln)
|
rs961027509
|
0.00001
|
NM_001130438.3(SPTAN1):c.4164C>T (p.Ile1388=)
|
rs759713935
|
0.00001
|
NM_001130438.3(SPTAN1):c.416G>A (p.Arg139Gln)
|
rs773288631
|
0.00001
|
NM_001130438.3(SPTAN1):c.4174G>A (p.Ala1392Thr)
|
rs972500325
|
0.00001
|
NM_001130438.3(SPTAN1):c.4225G>A (p.Gly1409Arg)
|
rs746913959
|
0.00001
|
NM_001130438.3(SPTAN1):c.433C>G (p.Leu145Val)
|
rs754419719
|
0.00001
|
NM_001130438.3(SPTAN1):c.4344G>A (p.Gln1448=)
|
rs1357221237
|
0.00001
|
NM_001130438.3(SPTAN1):c.4345-10C>T
|
rs996303937
|
0.00001
|
NM_001130438.3(SPTAN1):c.4345-8C>T
|
rs1374814925
|
0.00001
|
NM_001130438.3(SPTAN1):c.4554C>G (p.Ala1518=)
|
rs765079561
|
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.4632G>A (p.Arg1544=)
|
rs774198117
|
0.00001
|
NM_001130438.3(SPTAN1):c.4672C>T (p.Arg1558Trp)
|
rs750465466
|
0.00001
|
NM_001130438.3(SPTAN1):c.4722G>A (p.Ala1574=)
|
rs886972447
|
0.00001
|
NM_001130438.3(SPTAN1):c.4758+10A>T
|
rs1856301701
|
0.00001
|
NM_001130438.3(SPTAN1):c.4759-8T>G
|
rs747171460
|
0.00001
|
NM_001130438.3(SPTAN1):c.4774-20A>G
|
rs1856587421
|
0.00001
|
NM_001130438.3(SPTAN1):c.4821C>T (p.Asn1607=)
|
rs539062498
|
0.00001
|
NM_001130438.3(SPTAN1):c.4905+12C>A
|
rs1272876073
|
0.00001
|
NM_001130438.3(SPTAN1):c.4905+18C>G
|
rs751336135
|
0.00001
|
NM_001130438.3(SPTAN1):c.4910G>A (p.Arg1637His)
|
rs777707442
|
0.00001
|
NM_001130438.3(SPTAN1):c.4915G>A (p.Ala1639Thr)
|
rs371679323
|
0.00001
|
NM_001130438.3(SPTAN1):c.4926T>C (p.Ala1642=)
|
rs768791824
|
0.00001
|
NM_001130438.3(SPTAN1):c.5001C>T (p.Asn1667=)
|
rs781381237
|
0.00001
|
NM_001130438.3(SPTAN1):c.5013G>A (p.Gly1671=)
|
rs886063506
|
0.00001
|
NM_001130438.3(SPTAN1):c.5039C>G (p.Ser1680Cys)
|
rs1251494639
|
0.00001
|
NM_001130438.3(SPTAN1):c.504+5G>A
|
rs377258326
|
0.00001
|
NM_001130438.3(SPTAN1):c.505-18C>T
|
rs1057522078
|
0.00001
|
NM_001130438.3(SPTAN1):c.510A>G (p.Ala170=)
|
rs1404143666
|
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.5149-15T>C
|
rs370741251
|
0.00001
|
NM_001130438.3(SPTAN1):c.5159A>G (p.Lys1720Arg)
|
rs1451766321
|
0.00001
|
NM_001130438.3(SPTAN1):c.5224G>A (p.Asp1742Asn)
|
rs750748842
|
0.00001
|
NM_001130438.3(SPTAN1):c.5243A>G (p.Asn1748Ser)
|
rs1435643999
|
0.00001
|
NM_001130438.3(SPTAN1):c.5244C>T (p.Asn1748=)
|
rs747794736
|
0.00001
|
NM_001130438.3(SPTAN1):c.5245G>A (p.Gly1749Arg)
|
rs771886198
|
0.00001
|
NM_001130438.3(SPTAN1):c.5263A>C (p.Lys1755Gln)
|
rs1857087048
|
0.00001
|
NM_001130438.3(SPTAN1):c.5276C>T (p.Ala1759Val)
|
rs368402085
|
0.00001
|
NM_001130438.3(SPTAN1):c.5280C>G (p.Ser1760=)
|
rs1857089934
|
0.00001
|
NM_001130438.3(SPTAN1):c.5281C>T (p.Arg1761Trp)
|
rs764247109
|
0.00001
|
NM_001130438.3(SPTAN1):c.5309G>A (p.Arg1770His)
|
rs374625039
|
0.00001
|
NM_001130438.3(SPTAN1):c.5361G>A (p.Glu1787=)
|
rs756977702
|
0.00001
|
NM_001130438.3(SPTAN1):c.5433C>G (p.His1811Gln)
|
rs772382171
|
0.00001
|
NM_001130438.3(SPTAN1):c.5479G>A (p.Gly1827Ser)
|
rs1287628912
|
0.00001
|
NM_001130438.3(SPTAN1):c.5508C>T (p.Ser1836=)
|
rs777780283
|
0.00001
|
NM_001130438.3(SPTAN1):c.5521A>G (p.Ile1841Val)
|
rs781083220
|
0.00001
|
NM_001130438.3(SPTAN1):c.5524G>A (p.Gly1842Arg)
|
rs770133448
|
0.00001
|
NM_001130438.3(SPTAN1):c.5544G>A (p.Gln1848=)
|
rs572958583
|
0.00001
|
NM_001130438.3(SPTAN1):c.5546G>A (p.Arg1849Gln)
|
rs760298084
|
0.00001
|
NM_001130438.3(SPTAN1):c.5550G>A (p.Leu1850=)
|
rs1857392790
|
0.00001
|
NM_001130438.3(SPTAN1):c.55C>A (p.Arg19=)
|
rs748232676
|
0.00001
|
NM_001130438.3(SPTAN1):c.5601-17C>T
|
rs762938535
|
0.00001
|
NM_001130438.3(SPTAN1):c.5672T>C (p.Ile1891Thr)
|
rs961696023
|
0.00001
|
NM_001130438.3(SPTAN1):c.5675A>G (p.Asn1892Ser)
|
rs1425744048
|
0.00001
|
NM_001130438.3(SPTAN1):c.5688C>G (p.Thr1896=)
|
rs749391487
|
0.00001
|
NM_001130438.3(SPTAN1):c.5712C>T (p.Gly1904=)
|
rs150960451
|
0.00001
|
NM_001130438.3(SPTAN1):c.5733+13C>T
|
rs371182687
|
0.00001
|
NM_001130438.3(SPTAN1):c.5784G>A (p.Lys1928=)
|
rs761784727
|
0.00001
|
NM_001130438.3(SPTAN1):c.5791G>A (p.Val1931Met)
|
rs371687713
|
0.00001
|
NM_001130438.3(SPTAN1):c.5831A>T (p.Lys1944Met)
|
rs1857813082
|
0.00001
|
NM_001130438.3(SPTAN1):c.5832+16T>C
|
rs1308278456
|
0.00001
|
NM_001130438.3(SPTAN1):c.5832+18G>A
|
rs1447545553
|
0.00001
|
NM_001130438.3(SPTAN1):c.5832+9A>G
|
rs1431187706
|
0.00001
|
NM_001130438.3(SPTAN1):c.5833-5C>T
|
rs1326464989
|
0.00001
|
NM_001130438.3(SPTAN1):c.5853C>T (p.Asn1951=)
|
rs776448694
|
0.00001
|
NM_001130438.3(SPTAN1):c.586A>G (p.Thr196Ala)
|
rs940919276
|
0.00001
|
NM_001130438.3(SPTAN1):c.5880C>T (p.Asn1960=)
|
rs372782253
|
0.00001
|
NM_001130438.3(SPTAN1):c.5904A>T (p.Lys1968Asn)
|
rs778709187
|
0.00001
|
NM_001130438.3(SPTAN1):c.5922G>C (p.Lys1974Asn)
|
rs777407223
|
0.00001
|
NM_001130438.3(SPTAN1):c.5929C>T (p.Leu1977=)
|
rs745668882
|
0.00001
|
NM_001130438.3(SPTAN1):c.593T>C (p.Met198Thr)
|
rs924110992
|
0.00001
|
NM_001130438.3(SPTAN1):c.5973C>T (p.Asp1991=)
|
rs1060504931
|
0.00001
|
NM_001130438.3(SPTAN1):c.5979G>A (p.Val1993=)
|
rs1413553922
|
0.00001
|
NM_001130438.3(SPTAN1):c.6014A>G (p.Lys2005Arg)
|
rs754276364
|
0.00001
|
NM_001130438.3(SPTAN1):c.6054G>A (p.Thr2018=)
|
rs1480779005
|
0.00001
|
NM_001130438.3(SPTAN1):c.6058C>T (p.Leu2020Phe)
|
rs751012803
|
0.00001
|
NM_001130438.3(SPTAN1):c.6078T>C (p.Phe2026=)
|
rs776794393
|
0.00001
|
NM_001130438.3(SPTAN1):c.6113T>C (p.Ile2038Thr)
|
rs1227328885
|
0.00001
|
NM_001130438.3(SPTAN1):c.6117C>G (p.Ala2039=)
|
rs1310120255
|
0.00001
|
NM_001130438.3(SPTAN1):c.6141G>T (p.Gln2047His)
|
rs1244126171
|
0.00001
|
NM_001130438.3(SPTAN1):c.6147C>T (p.Leu2049=)
|
rs778917848
|
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.6160G>A (p.Val2054Ile)
|
rs771286283
|
0.00001
|
NM_001130438.3(SPTAN1):c.6178G>C (p.Glu2060Gln)
|
rs751423380
|
0.00001
|
NM_001130438.3(SPTAN1):c.6196C>T (p.Leu2066Phe)
|
rs1286936741
|
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.6240C>T (p.Arg2080=)
|
rs757354191
|
0.00001
|
NM_001130438.3(SPTAN1):c.6270C>T (p.His2090=)
|
rs370102482
|
0.00001
|
NM_001130438.3(SPTAN1):c.6274C>T (p.Arg2092Cys)
|
rs771651648
|
0.00001
|
NM_001130438.3(SPTAN1):c.6279+4A>T
|
rs1274186786
|
0.00001
|
NM_001130438.3(SPTAN1):c.6312G>A (p.Lys2104=)
|
rs759120249
|
0.00001
|
NM_001130438.3(SPTAN1):c.6321C>T (p.Ala2107=)
|
rs769488004
|
0.00001
|
NM_001130438.3(SPTAN1):c.6371G>A (p.Arg2124His)
|
rs763928650
|
0.00001
|
NM_001130438.3(SPTAN1):c.6414C>T (p.His2138=)
|
rs537595625
|
0.00001
|
NM_001130438.3(SPTAN1):c.6425G>A (p.Arg2142His)
|
rs796053324
|
0.00001
|
NM_001130438.3(SPTAN1):c.6453C>T (p.Asp2151=)
|
rs376208532
|
0.00001
|
NM_001130438.3(SPTAN1):c.649C>G (p.Gln217Glu)
|
rs756290749
|
0.00001
|
NM_001130438.3(SPTAN1):c.651+10A>G
|
rs1851181711
|
0.00001
|
NM_001130438.3(SPTAN1):c.652-5T>C
|
rs1029752624
|
0.00001
|
NM_001130438.3(SPTAN1):c.6594G>A (p.Leu2198=)
|
rs776820062
|
0.00001
|
NM_001130438.3(SPTAN1):c.6707+8T>C
|
rs759068430
|
0.00001
|
NM_001130438.3(SPTAN1):c.6708-6G>A
|
rs375772117
|
0.00001
|
NM_001130438.3(SPTAN1):c.6728C>T (p.Ser2243Leu)
|
rs769859369
|
0.00001
|
NM_001130438.3(SPTAN1):c.6729G>A (p.Ser2243=)
|
rs140856932
|
0.00001
|
NM_001130438.3(SPTAN1):c.6738C>T (p.Leu2246=)
|
rs762644827
|
0.00001
|
NM_001130438.3(SPTAN1):c.6763-12C>T
|
rs774215534
|
0.00001
|
NM_001130438.3(SPTAN1):c.6763-5T>C
|
rs1442294534
|
0.00001
|
NM_001130438.3(SPTAN1):c.6763-7C>T
|
rs587784439
|
0.00001
|
NM_001130438.3(SPTAN1):c.6764G>A (p.Arg2255His)
|
rs201693154
|
0.00001
|
NM_001130438.3(SPTAN1):c.6790A>C (p.Arg2264=)
|
rs766550915
|
0.00001
|
NM_001130438.3(SPTAN1):c.6959+5C>G
|
rs1057523269
|
0.00001
|
NM_001130438.3(SPTAN1):c.7013+10G>A
|
rs759648854
|
0.00001
|
NM_001130438.3(SPTAN1):c.7013+19G>A
|
rs370654629
|
0.00001
|
NM_001130438.3(SPTAN1):c.7014-20C>T
|
rs1444973251
|
0.00001
|
NM_001130438.3(SPTAN1):c.7068C>T (p.Cys2356=)
|
rs538402865
|
0.00001
|
NM_001130438.3(SPTAN1):c.7073G>A (p.Arg2358His)
|
rs773474201
|
0.00001
|
NM_001130438.3(SPTAN1):c.7088A>G (p.Asp2363Gly)
|
rs1256953654
|
0.00001
|
NM_001130438.3(SPTAN1):c.7114C>T (p.Pro2372Ser)
|
rs1859963796
|
0.00001
|
NM_001130438.3(SPTAN1):c.713A>G (p.Gln238Arg)
|
rs758342554
|
0.00001
|
NM_001130438.3(SPTAN1):c.7145C>T (p.Thr2382Met)
|
rs796053331
|
0.00001
|
NM_001130438.3(SPTAN1):c.7148T>C (p.Val2383Ala)
|
rs754183499
|
0.00001
|
NM_001130438.3(SPTAN1):c.715C>T (p.Arg239Trp)
|
rs763806998
|
0.00001
|
NM_001130438.3(SPTAN1):c.7160+16C>T
|
rs772488907
|
0.00001
|
NM_001130438.3(SPTAN1):c.7161-13C>T
|
rs1489017459
|
0.00001
|
NM_001130438.3(SPTAN1):c.7207C>T (p.Arg2403Cys)
|
rs1285764786
|
0.00001
|
NM_001130438.3(SPTAN1):c.7209C>T (p.Arg2403=)
|
rs778129817
|
0.00001
|
NM_001130438.3(SPTAN1):c.7235A>T (p.Glu2412Val)
|
rs768195496
|
0.00001
|
NM_001130438.3(SPTAN1):c.7256G>A (p.Arg2419Gln)
|
rs772995493
|
0.00001
|
NM_001130438.3(SPTAN1):c.7275A>G (p.Gly2425=)
|
rs1239084886
|
0.00001
|
NM_001130438.3(SPTAN1):c.7285G>A (p.Val2429Met)
|
rs1344858192
|
0.00001
|
NM_001130438.3(SPTAN1):c.7308+9C>T
|
rs1860031125
|
0.00001
|
NM_001130438.3(SPTAN1):c.7309-17C>T
|
rs1860104765
|
0.00001
|
NM_001130438.3(SPTAN1):c.7309-7C>T
|
rs866813546
|
0.00001
|
NM_001130438.3(SPTAN1):c.7329C>T (p.Ala2443=)
|
rs769426014
|
0.00001
|
NM_001130438.3(SPTAN1):c.7338C>T (p.Cys2446=)
|
rs374405583
|
0.00001
|
NM_001130438.3(SPTAN1):c.7339G>A (p.Val2447Ile)
|
rs764312862
|
0.00001
|
NM_001130438.3(SPTAN1):c.7343C>T (p.Ser2448Phe)
|
rs1248425869
|
0.00001
|
NM_001130438.3(SPTAN1):c.7350G>A (p.Met2450Ile)
|
rs761874094
|
0.00001
|
NM_001130438.3(SPTAN1):c.7354C>A (p.Pro2452Thr)
|
rs767620941
|
0.00001
|
NM_001130438.3(SPTAN1):c.7375C>T (p.Arg2459Cys)
|
rs1160694512
|
0.00001
|
NM_001130438.3(SPTAN1):c.7376G>A (p.Arg2459His)
|
rs751323903
|
0.00001
|
NM_001130438.3(SPTAN1):c.7377C>T (p.Arg2459=)
|
rs756798259
|
0.00001
|
NM_001130438.3(SPTAN1):c.7414C>T (p.Arg2472Cys)
|
rs759975874
|
0.00001
|
NM_001130438.3(SPTAN1):c.7415G>A (p.Arg2472His)
|
rs375016371
|
0.00001
|
NM_001130438.3(SPTAN1):c.7426G>A (p.Val2476Met)
|
rs199569281
|
0.00001
|
NM_001130438.3(SPTAN1):c.775C>T (p.Arg259Cys)
|
rs151150353
|
0.00001
|
NM_001130438.3(SPTAN1):c.776G>A (p.Arg259His)
|
rs772367229
|
0.00001
|
NM_001130438.3(SPTAN1):c.785+12G>C
|
rs774982401
|
0.00001
|
NM_001130438.3(SPTAN1):c.785+5C>T
|
rs776310053
|
0.00001
|
NM_001130438.3(SPTAN1):c.83G>A (p.Arg28His)
|
rs747510615
|
0.00001
|
NM_001130438.3(SPTAN1):c.84C>T (p.Arg28=)
|
rs1447324542
|
0.00001
|
NM_001130438.3(SPTAN1):c.859C>T (p.Leu287=)
|
rs1851406473
|
0.00001
|
NM_001130438.3(SPTAN1):c.873G>A (p.Gln291=)
|
rs891278524
|
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.979C>T (p.Leu327=)
|
rs587784442
|
0.00001
|
NM_001130438.3(SPTAN1):c.988A>G (p.Thr330Ala)
|
rs924198534
|
0.00001
|
NC_000009.11:g.(?_131353736)_(131356672_?)dup
|
|
|
NC_000009.11:g.(?_131360669)_(131367766_?)del
|
|
|
NC_000009.11:g.(?_131362339)_(131362414_?)del
|
|
|
NC_000009.11:g.(?_131382516)_(131393966_?)del
|
|
|
NC_000009.12:g.(?_128613381)_(128613485_?)del
|
|
|
NM_001130438.3(SPTAN1):c.1000G>A (p.Val334Met)
|
|
|
NM_001130438.3(SPTAN1):c.1008A>G (p.Arg336=)
|
|
|
NM_001130438.3(SPTAN1):c.1014A>G (p.Glu338=)
|
|
|
NM_001130438.3(SPTAN1):c.1035G>T (p.Gln345His)
|
rs2131015592
|
|
NM_001130438.3(SPTAN1):c.1039C>G (p.Arg347Gly)
|
rs754066930
|
|
NM_001130438.3(SPTAN1):c.1040G>T (p.Arg347Leu)
|
|
|
NM_001130438.3(SPTAN1):c.104T>G (p.Leu35Arg)
|
|
|
NM_001130438.3(SPTAN1):c.1050G>A (p.Ala350=)
|
rs752710398
|
|
NM_001130438.3(SPTAN1):c.1063G>A (p.Ala355Thr)
|
|
|
NM_001130438.3(SPTAN1):c.1063G>T (p.Ala355Ser)
|
rs988012905
|
|
NM_001130438.3(SPTAN1):c.1064C>T (p.Ala355Val)
|
rs1851436689
|
|
NM_001130438.3(SPTAN1):c.1066C>T (p.Arg356Trp)
|
rs370695453
|
|
NM_001130438.3(SPTAN1):c.1076A>G (p.Asp359Gly)
|
rs748881611
|
|
NM_001130438.3(SPTAN1):c.1077T>C (p.Asp359=)
|
rs768294119
|
|
NM_001130438.3(SPTAN1):c.1080A>C (p.Ser360=)
|
rs1192539733
|
|
NM_001130438.3(SPTAN1):c.1080A>T (p.Ser360=)
|
|
|
NM_001130438.3(SPTAN1):c.1085+13C>A
|
|
|
NM_001130438.3(SPTAN1):c.1085+3_1085+4delinsTT
|
rs1851440097
|
|
NM_001130438.3(SPTAN1):c.1085+6A>C
|
rs1060503488
|
|
NM_001130438.3(SPTAN1):c.1085+6A>G
|
rs1060503488
|
|
NM_001130438.3(SPTAN1):c.1085+8T>G
|
|
|
NM_001130438.3(SPTAN1):c.1086-11G>C
|
|
|
NM_001130438.3(SPTAN1):c.1086-17_1086-14del
|
rs768027782
|
|
NM_001130438.3(SPTAN1):c.1086-18_1086-17delinsAA
|
rs1554742449
|
|
NM_001130438.3(SPTAN1):c.1086-2A>C
|
rs2131028639
|
|
NM_001130438.3(SPTAN1):c.1086G>A (p.Arg362=)
|
|
|
NM_001130438.3(SPTAN1):c.1087C>G (p.Leu363Val)
|
|
|
NM_001130438.3(SPTAN1):c.1093C>G (p.Arg365Gly)
|
rs372157740
|
|
NM_001130438.3(SPTAN1):c.1094G>A (p.Arg365His)
|
|
|
NM_001130438.3(SPTAN1):c.1097T>C (p.Phe366Ser)
|
rs942915357
|
|
NM_001130438.3(SPTAN1):c.1099C>T (p.Leu367Phe)
|
rs1851517179
|
|
NM_001130438.3(SPTAN1):c.109C>T (p.Arg37Cys)
|
rs751473819
|
|
NM_001130438.3(SPTAN1):c.1105G>C (p.Asp369His)
|
|
|
NM_001130438.3(SPTAN1):c.110G>A (p.Arg37His)
|
rs1325381089
|
|
NM_001130438.3(SPTAN1):c.1113T>C (p.Arg371=)
|
rs769668578
|
|
NM_001130438.3(SPTAN1):c.1116C>T (p.Asp372=)
|
|
|
NM_001130438.3(SPTAN1):c.1119C>T (p.Leu373=)
|
rs1239261034
|
|
NM_001130438.3(SPTAN1):c.1121C>A (p.Thr374Asn)
|
|
|
NM_001130438.3(SPTAN1):c.1131G>A (p.Val377=)
|
|
|
NM_001130438.3(SPTAN1):c.1142A>G (p.Lys381Arg)
|
rs2131029556
|
|
NM_001130438.3(SPTAN1):c.1149C>T (p.Leu383=)
|
rs2131029682
|
|
NM_001130438.3(SPTAN1):c.1158A>G (p.Ala386=)
|
|
|
NM_001130438.3(SPTAN1):c.1164G>A (p.Glu388=)
|
|
|
NM_001130438.3(SPTAN1):c.1172G>A (p.Ser391Asn)
|
|
|
NM_001130438.3(SPTAN1):c.1176T>C (p.Asp392=)
|
rs758571561
|
|
NM_001130438.3(SPTAN1):c.1179G>C (p.Val393=)
|
|
|
NM_001130438.3(SPTAN1):c.1180G>T (p.Ala394Ser)
|
|
|
NM_001130438.3(SPTAN1):c.1186G>A (p.Ala396Thr)
|
rs1851525959
|
|
NM_001130438.3(SPTAN1):c.1189G>A (p.Glu397Lys)
|
rs1589192271
|
|
NM_001130438.3(SPTAN1):c.120G>A (p.Leu40=)
|
rs2132958989
|
|
NM_001130438.3(SPTAN1):c.1210C>T (p.Gln404Ter)
|
rs2131030804
|
|
NM_001130438.3(SPTAN1):c.1217A>G (p.His406Arg)
|
|
|
NM_001130438.3(SPTAN1):c.1218C>T (p.His406=)
|
rs2131030883
|
|
NM_001130438.3(SPTAN1):c.1221+11C>G
|
rs113357847
|
|
NM_001130438.3(SPTAN1):c.1221+13C>G
|
|
|
NM_001130438.3(SPTAN1):c.1221+7G>A
|
|
|
NM_001130438.3(SPTAN1):c.1221+8T>C
|
|
|
NM_001130438.3(SPTAN1):c.1222-16T>G
|
|
|
NM_001130438.3(SPTAN1):c.1222-17G>C
|
|
|
NM_001130438.3(SPTAN1):c.1222-20T>C
|
|
|
NM_001130438.3(SPTAN1):c.1222-4G>T
|
|
|
NM_001130438.3(SPTAN1):c.1222-6C>T
|
|
|
NM_001130438.3(SPTAN1):c.1222-7C>A
|
rs2131060807
|
|
NM_001130438.3(SPTAN1):c.1239T>C (p.His413=)
|
rs1851707590
|
|
NM_001130438.3(SPTAN1):c.1242A>G (p.Glu414=)
|
rs137947812
|
|
NM_001130438.3(SPTAN1):c.1251C>T (p.Phe417=)
|
rs2131061265
|
|
NM_001130438.3(SPTAN1):c.1256C>T (p.Ser419Phe)
|
|
|
NM_001130438.3(SPTAN1):c.1263T>C (p.Asp421=)
|
|
|
NM_001130438.3(SPTAN1):c.1269T>C (p.Ser423=)
|
|
|
NM_001130438.3(SPTAN1):c.1271G>T (p.Gly424Val)
|
rs2131061695
|
|
NM_001130438.3(SPTAN1):c.1281G>C (p.Leu427=)
|
|
|
NM_001130438.3(SPTAN1):c.1287T>C (p.Ala429=)
|
|
|
NM_001130438.3(SPTAN1):c.1298A>G (p.Tyr433Cys)
|
|
|
NM_001130438.3(SPTAN1):c.129C>A (p.Ser43=)
|
|
|
NM_001130438.3(SPTAN1):c.1300G>T (p.Ala434Ser)
|
|
|
NM_001130438.3(SPTAN1):c.1308T>C (p.Asp436=)
|
|
|
NM_001130438.3(SPTAN1):c.130T>C (p.Tyr44His)
|
|
|
NM_001130438.3(SPTAN1):c.1323+15A>C
|
rs756784077
|
|
NM_001130438.3(SPTAN1):c.1323+3A>T
|
|
|
NM_001130438.3(SPTAN1):c.1324-20A>T
|
|
|
NM_001130438.3(SPTAN1):c.1324-4C>A
|
rs2131087438
|
|
NM_001130438.3(SPTAN1):c.1324-7C>T
|
|
|
NM_001130438.3(SPTAN1):c.1328C>G (p.Thr443Ser)
|
|
|
NM_001130438.3(SPTAN1):c.1330G>C (p.Val444Leu)
|
rs77358650
|
|
NM_001130438.3(SPTAN1):c.1339G>T (p.Glu447Ter)
|
|
|
NM_001130438.3(SPTAN1):c.133C>A (p.Arg45=)
|
|
|
NM_001130438.3(SPTAN1):c.1349C>T (p.Ala450Val)
|
|
|
NM_001130438.3(SPTAN1):c.1350G>T (p.Ala450=)
|
|
|
NM_001130438.3(SPTAN1):c.1352C>T (p.Ala451Val)
|
rs149336930
|
|
NM_001130438.3(SPTAN1):c.1353G>A (p.Ala451=)
|
|
|
NM_001130438.3(SPTAN1):c.1362G>A (p.Glu454=)
|
rs144590741
|
|
NM_001130438.3(SPTAN1):c.1367G>A (p.Trp456Ter)
|
rs2131088567
|
|
NM_001130438.3(SPTAN1):c.136T>C (p.Phe46Leu)
|
|
|
NM_001130438.3(SPTAN1):c.1371G>T (p.Glu457Asp)
|
rs1589203624
|
|
NM_001130438.3(SPTAN1):c.1378A>G (p.Arg460Gly)
|
|
|
NM_001130438.3(SPTAN1):c.1380G>A (p.Arg460=)
|
|
|
NM_001130438.3(SPTAN1):c.1384C>A (p.Gln462Lys)
|
|
|
NM_001130438.3(SPTAN1):c.1390G>A (p.Glu464Lys)
|
|
|
NM_001130438.3(SPTAN1):c.1390_1398dup (p.Cys466_Met467insGluGlnCys)
|
|
|
NM_001130438.3(SPTAN1):c.1395G>A (p.Gln465=)
|
rs1851874223
|
|
NM_001130438.3(SPTAN1):c.1399A>G (p.Met467Val)
|
rs1851874498
|
|
NM_001130438.3(SPTAN1):c.1411C>G (p.Leu471Val)
|
|
|
NM_001130438.3(SPTAN1):c.1421G>A (p.Arg474Gln)
|
rs2131089805
|
|
NM_001130438.3(SPTAN1):c.1440C>T (p.Asp480=)
|
|
|
NM_001130438.3(SPTAN1):c.1443C>T (p.Asn481=)
|
|
|
NM_001130438.3(SPTAN1):c.1451G>A (p.Ser484Asn)
|
rs1851879535
|
|
NM_001130438.3(SPTAN1):c.1456C>G (p.Gln486Glu)
|
rs1455085342
|
|
NM_001130438.3(SPTAN1):c.1461+15A>C
|
|
|
NM_001130438.3(SPTAN1):c.1461+19C>G
|
|
|
NM_001130438.3(SPTAN1):c.1461+3A>G
|
|
|
NM_001130438.3(SPTAN1):c.1461+4A>G
|
rs1851880743
|
|
NM_001130438.3(SPTAN1):c.1462-11C>T
|
|
|
NM_001130438.3(SPTAN1):c.1462-13T>G
|
|
|
NM_001130438.3(SPTAN1):c.1463C>T (p.Ala488Val)
|
rs1851980146
|
|
NM_001130438.3(SPTAN1):c.1464G>A (p.Ala488=)
|
|
|
NM_001130438.3(SPTAN1):c.1468C>T (p.Leu490=)
|
|
|
NM_001130438.3(SPTAN1):c.1473G>C (p.Leu491Phe)
|
|
|
NM_001130438.3(SPTAN1):c.1492T>C (p.Ser498Pro)
|
|
|
NM_001130438.3(SPTAN1):c.1497G>A (p.Leu499=)
|
|
|
NM_001130438.3(SPTAN1):c.1510G>A (p.Ala504Thr)
|
|
|
NM_001130438.3(SPTAN1):c.1519AAG[1] (p.Lys508del)
|
rs2131108444
|
|
NM_001130438.3(SPTAN1):c.1524G>C (p.Lys508Asn)
|
rs2131108546
|
|
NM_001130438.3(SPTAN1):c.1528G>A (p.Glu510Lys)
|
rs769320860
|
|
NM_001130438.3(SPTAN1):c.154G>A (p.Asp52Asn)
|
rs1564194636
|
|
NM_001130438.3(SPTAN1):c.1552G>A (p.Ala518Thr)
|
|
|
NM_001130438.3(SPTAN1):c.1572+1G>T
|
|
|
NM_001130438.3(SPTAN1):c.1572+5G>C
|
rs1851989537
|
|
NM_001130438.3(SPTAN1):c.1572+8C>T
|
rs2131109494
|
|
NM_001130438.3(SPTAN1):c.1573-11T>G
|
|
|
NM_001130438.3(SPTAN1):c.1573-14A>G
|
|
|
NM_001130438.3(SPTAN1):c.1573-4C>G
|
|
|
NM_001130438.3(SPTAN1):c.1573-6_1573-3del
|
rs758557229
|
|
NM_001130438.3(SPTAN1):c.1589C>G (p.Ala530Gly)
|
|
|
NM_001130438.3(SPTAN1):c.1595A>G (p.Lys532Arg)
|
rs886063501
|
|
NM_001130438.3(SPTAN1):c.159T>A (p.Ala53=)
|
|
|
NM_001130438.3(SPTAN1):c.1603C>A (p.Gln535Lys)
|
rs79650677
|
|
NM_001130438.3(SPTAN1):c.1637C>T (p.Thr546Ile)
|
|
|
NM_001130438.3(SPTAN1):c.1639C>T (p.Arg547Cys)
|
|
|
NM_001130438.3(SPTAN1):c.1640G>A (p.Arg547His)
|
rs1277192295
|
|
NM_001130438.3(SPTAN1):c.1642C>T (p.Arg548Ter)
|
|
|
NM_001130438.3(SPTAN1):c.1649C>T (p.Ala550Val)
|
rs1297146654
|
|
NM_001130438.3(SPTAN1):c.1650+13G>A
|
rs2131124699
|
|
NM_001130438.3(SPTAN1):c.1650+20A>G
|
rs1589212297
|
|
NM_001130438.3(SPTAN1):c.1650+8T>C
|
rs2131124451
|
|
NM_001130438.3(SPTAN1):c.1650+8del
|
|
|
NM_001130438.3(SPTAN1):c.1650T>C (p.Ala550=)
|
|
|
NM_001130438.3(SPTAN1):c.1651C>T (p.Leu551=)
|
|
|
NM_001130438.3(SPTAN1):c.1653G>A (p.Leu551=)
|
rs2131127973
|
|
NM_001130438.3(SPTAN1):c.1655T>G (p.Leu552Trp)
|
rs1852093848
|
|
NM_001130438.3(SPTAN1):c.1656G>C (p.Leu552Phe)
|
|
|
NM_001130438.3(SPTAN1):c.1661G>A (p.Arg554His)
|
|
|
NM_001130438.3(SPTAN1):c.1662C>T (p.Arg554=)
|
rs1398071492
|
|
NM_001130438.3(SPTAN1):c.1663C>T (p.Arg555Cys)
|
|
|
NM_001130438.3(SPTAN1):c.1668T>C (p.Asn556=)
|
rs1406334272
|
|
NM_001130438.3(SPTAN1):c.1677C>G (p.His559Gln)
|
rs587784432
|
|
NM_001130438.3(SPTAN1):c.1678G>A (p.Glu560Lys)
|
|
|
NM_001130438.3(SPTAN1):c.1688T>C (p.Met563Thr)
|
rs377387388
|
|
NM_001130438.3(SPTAN1):c.1694G>A (p.Arg565His)
|
|
|
NM_001130438.3(SPTAN1):c.1698G>A (p.Arg566=)
|
rs2131129556
|
|
NM_001130438.3(SPTAN1):c.1708G>A (p.Ala570Thr)
|
rs2131129868
|
|
NM_001130438.3(SPTAN1):c.1711G>A (p.Asp571Asn)
|
|
|
NM_001130438.3(SPTAN1):c.1718T>G (p.Phe573Cys)
|
rs1852105472
|
|
NM_001130438.3(SPTAN1):c.1719C>A (p.Phe573Leu)
|
|
|
NM_001130438.3(SPTAN1):c.1741G>A (p.Asp581Asn)
|
|
|
NM_001130438.3(SPTAN1):c.1765G>C (p.Val589Leu)
|
|
|
NM_001130438.3(SPTAN1):c.1767C>T (p.Val589=)
|
|
|
NM_001130438.3(SPTAN1):c.1769A>G (p.Asn590Ser)
|
rs1034518674
|
|
NM_001130438.3(SPTAN1):c.1773_1774del (p.Lys592fs)
|
rs1852112548
|
|
NM_001130438.3(SPTAN1):c.1778T>C (p.Met593Thr)
|
rs1382899008
|
|
NM_001130438.3(SPTAN1):c.1779G>A (p.Met593Ile)
|
|
|
NM_001130438.3(SPTAN1):c.1798G>A (p.Ala600Thr)
|
rs2131131343
|
|
NM_001130438.3(SPTAN1):c.1806+18T>A
|
|
|
NM_001130438.3(SPTAN1):c.1807-13_1807-11del
|
|
|
NM_001130438.3(SPTAN1):c.1807-16C>A
|
|
|
NM_001130438.3(SPTAN1):c.1807-16C>G
|
|
|
NM_001130438.3(SPTAN1):c.1807-17C>T
|
rs1057524223
|
|
NM_001130438.3(SPTAN1):c.1807-3C>T
|
rs571532593
|
|
NM_001130438.3(SPTAN1):c.1807-9T>C
|
|
|
NM_001130438.3(SPTAN1):c.1833A>G (p.Val611=)
|
rs2131137645
|
|
NM_001130438.3(SPTAN1):c.1834C>T (p.Gln612Ter)
|
rs1852152679
|
|
NM_001130438.3(SPTAN1):c.1856C>A (p.Ala619Asp)
|
rs772608327
|
|
NM_001130438.3(SPTAN1):c.1864T>C (p.Ser622Pro)
|
|
|
NM_001130438.3(SPTAN1):c.1866A>G (p.Ser622=)
|
|
|
NM_001130438.3(SPTAN1):c.1868C>G (p.Ala623Gly)
|
|
|
NM_001130438.3(SPTAN1):c.1881A>C (p.Arg627=)
|
|
|
NM_001130438.3(SPTAN1):c.1894G>A (p.Glu632Lys)
|
|
|
NM_001130438.3(SPTAN1):c.1895A>G (p.Glu632Gly)
|
|
|
NM_001130438.3(SPTAN1):c.190C>A (p.Leu64Ile)
|
rs1589149870
|
|
NM_001130438.3(SPTAN1):c.190C>T (p.Leu64Phe)
|
rs1589149870
|
|
NM_001130438.3(SPTAN1):c.1927C>T (p.His643Tyr)
|
|
|
NM_001130438.3(SPTAN1):c.1929C>T (p.His643=)
|
|
|
NM_001130438.3(SPTAN1):c.1945G>A (p.Val649Met)
|
|
|
NM_001130438.3(SPTAN1):c.1948G>A (p.Ala650Thr)
|
|
|
NM_001130438.3(SPTAN1):c.1957A>T (p.Met653Leu)
|
rs191761343
|
|
NM_001130438.3(SPTAN1):c.195G>A (p.Gln65=)
|
rs2132960242
|
|
NM_001130438.3(SPTAN1):c.1972A>C (p.Ser658Arg)
|
|
|
NM_001130438.3(SPTAN1):c.1972A>G (p.Ser658Gly)
|
|
|
NM_001130438.3(SPTAN1):c.1992A>G (p.Leu664=)
|
|
|
NM_001130438.3(SPTAN1):c.2011+11T>C
|
|
|
NM_001130438.3(SPTAN1):c.2011+15A>G
|
|
|
NM_001130438.3(SPTAN1):c.2011+16T>C
|
|
|
NM_001130438.3(SPTAN1):c.2011+18G>A
|
|
|
NM_001130438.3(SPTAN1):c.2012-4A>G
|
|
|
NM_001130438.3(SPTAN1):c.2019G>A (p.Lys673=)
|
|
|
NM_001130438.3(SPTAN1):c.201A>G (p.Ala67=)
|
|
|
NM_001130438.3(SPTAN1):c.2028A>C (p.Glu676Asp)
|
rs2131150901
|
|
NM_001130438.3(SPTAN1):c.2053C>T (p.Arg685Cys)
|
|
|
NM_001130438.3(SPTAN1):c.2054G>A (p.Arg685His)
|
|
|
NM_001130438.3(SPTAN1):c.2064G>A (p.Glu688=)
|
rs587784433
|
|
NM_001130438.3(SPTAN1):c.2065G>A (p.Asp689Asn)
|
|
|
NM_001130438.3(SPTAN1):c.2069T>C (p.Ile690Thr)
|
|
|
NM_001130438.3(SPTAN1):c.2082A>T (p.Leu694=)
|
rs2131151846
|
|
NM_001130438.3(SPTAN1):c.2087_2089del (p.Glu696del)
|
rs2131151927
|
|
NM_001130438.3(SPTAN1):c.2089G>A (p.Val697Ile)
|
|
|
NM_001130438.3(SPTAN1):c.2094A>C (p.Glu698Asp)
|
rs1554746116
|
|
NM_001130438.3(SPTAN1):c.210G>A (p.Glu70=)
|
|
|
NM_001130438.3(SPTAN1):c.2114A>G (p.Asp705Gly)
|
rs2131152396
|
|
NM_001130438.3(SPTAN1):c.2132C>T (p.Thr711Ile)
|
|
|
NM_001130438.3(SPTAN1):c.2135A>G (p.Asn712Ser)
|
|
|
NM_001130438.3(SPTAN1):c.2148C>G (p.Leu716=)
|
|
|
NM_001130438.3(SPTAN1):c.2148C>T (p.Leu716=)
|
|
|
NM_001130438.3(SPTAN1):c.2154G>T (p.Lys718Asn)
|
|
|
NM_001130438.3(SPTAN1):c.2175A>G (p.Ala725=)
|
rs2131153544
|
|
NM_001130438.3(SPTAN1):c.2187T>A (p.Ala729=)
|
|
|
NM_001130438.3(SPTAN1):c.2193+13G>A
|
|
|
NM_001130438.3(SPTAN1):c.2193+14G>A
|
|
|
NM_001130438.3(SPTAN1):c.2193+15G>A
|
|
|
NM_001130438.3(SPTAN1):c.2193+17G>T
|
|
|
NM_001130438.3(SPTAN1):c.2193+18C>A
|
|
|
NM_001130438.3(SPTAN1):c.2193+5T>C
|
|
|
NM_001130438.3(SPTAN1):c.2193+6G>A
|
rs751573290
|
|
NM_001130438.3(SPTAN1):c.2194-15C>T
|
|
|
NM_001130438.3(SPTAN1):c.2194-20C>T
|
|
|
NM_001130438.3(SPTAN1):c.2194G>A (p.Asp732Asn)
|
rs2131160403
|
|
NM_001130438.3(SPTAN1):c.2196C>T (p.Asp732=)
|
rs757365265
|
|
NM_001130438.3(SPTAN1):c.2197C>A (p.Arg733=)
|
|
|
NM_001130438.3(SPTAN1):c.2197C>T (p.Arg733Ter)
|
rs1852298912
|
|
NM_001130438.3(SPTAN1):c.2204A>C (p.Asp735Ala)
|
|
|
NM_001130438.3(SPTAN1):c.2204A>G (p.Asp735Gly)
|
|
|
NM_001130438.3(SPTAN1):c.2206G>A (p.Gly736Ser)
|
|
|
NM_001130438.3(SPTAN1):c.2207G>A (p.Gly736Asp)
|
rs868177632
|
|
NM_001130438.3(SPTAN1):c.2238T>A (p.Asp746Glu)
|
|
|
NM_001130438.3(SPTAN1):c.2262C>T (p.Asn754=)
|
|
|
NM_001130438.3(SPTAN1):c.2263A>G (p.Ile755Val)
|
rs1852306066
|
|
NM_001130438.3(SPTAN1):c.227C>T (p.Thr76Ile)
|
rs1850104282
|
|
NM_001130438.3(SPTAN1):c.2281G>C (p.Ala761Pro)
|
|
|
NM_001130438.3(SPTAN1):c.2282C>T (p.Ala761Val)
|
rs770359554
|
|
NM_001130438.3(SPTAN1):c.2289G>A (p.Val763=)
|
|
|
NM_001130438.3(SPTAN1):c.2294G>A (p.Arg765His)
|
|
|
NM_001130438.3(SPTAN1):c.2297A>G (p.Tyr766Cys)
|
|
|
NM_001130438.3(SPTAN1):c.2298T>C (p.Tyr766=)
|
rs2131162364
|
|
NM_001130438.3(SPTAN1):c.2302G>T (p.Ala768Ser)
|
|
|
NM_001130438.3(SPTAN1):c.2304A>C (p.Ala768=)
|
rs750518161
|
|
NM_001130438.3(SPTAN1):c.2304A>G (p.Ala768=)
|
rs750518161
|
|
NM_001130438.3(SPTAN1):c.2309A>G (p.Lys770Arg)
|
|
|
NM_001130438.3(SPTAN1):c.2316C>G (p.Pro772=)
|
rs2131162953
|
|
NM_001130438.3(SPTAN1):c.2322T>G (p.Val774=)
|
rs1852316309
|
|
NM_001130438.3(SPTAN1):c.2330A>G (p.Lys777Arg)
|
rs2131163322
|
|
NM_001130438.3(SPTAN1):c.2338C>T (p.Leu780=)
|
|
|
NM_001130438.3(SPTAN1):c.2340G>A (p.Leu780=)
|
|
|
NM_001130438.3(SPTAN1):c.2341G>A (p.Ala781Thr)
|
|
|
NM_001130438.3(SPTAN1):c.2343C>T (p.Ala781=)
|
rs34084388
|
|
NM_001130438.3(SPTAN1):c.2343_2344delinsAA (p.Asp782Asn)
|
|
|
NM_001130438.3(SPTAN1):c.2348C>A (p.Ser783Tyr)
|
|
|
NM_001130438.3(SPTAN1):c.2350C>T (p.Leu784=)
|
rs2131163659
|
|
NM_001130438.3(SPTAN1):c.2353C>T (p.Arg785Trp)
|
rs1253697977
|
|
NM_001130438.3(SPTAN1):c.2357T>C (p.Leu786Ser)
|
|
|
NM_001130438.3(SPTAN1):c.237+12C>T
|
|
|
NM_001130438.3(SPTAN1):c.237+9G>C
|
rs368690134
|
|
NM_001130438.3(SPTAN1):c.238-13G>A
|
|
|
NM_001130438.3(SPTAN1):c.238-8G>T
|
|
|
NM_001130438.3(SPTAN1):c.2401C>A (p.Arg801=)
|
rs2131164463
|
|
NM_001130438.3(SPTAN1):c.2402G>A (p.Arg801Gln)
|
rs774283264
|
|
NM_001130438.3(SPTAN1):c.2412G>C (p.Glu804Asp)
|
rs767815914
|
|
NM_001130438.3(SPTAN1):c.2421C>A (p.Ala807=)
|
rs1329573763
|
|
NM_001130438.3(SPTAN1):c.2422G>T (p.Ala808Ser)
|
rs766491965
|
|
NM_001130438.3(SPTAN1):c.2428A>G (p.Thr810Ala)
|
|
|
NM_001130438.3(SPTAN1):c.2432A>G (p.Asn811Ser)
|
|
|
NM_001130438.3(SPTAN1):c.2437+13C>T
|
|
|
NM_001130438.3(SPTAN1):c.2437+18A>T
|
|
|
NM_001130438.3(SPTAN1):c.2437+5G>A
|
|
|
NM_001130438.3(SPTAN1):c.2438-13T>G
|
rs587784434
|
|
NM_001130438.3(SPTAN1):c.2438-14del
|
rs1459543412
|
|
NM_001130438.3(SPTAN1):c.2438-19G>A
|
rs760955571
|
|
NM_001130438.3(SPTAN1):c.2439T>C (p.Gly813=)
|
rs2131169619
|
|
NM_001130438.3(SPTAN1):c.2457C>T (p.Val819=)
|
rs2131169778
|
|
NM_001130438.3(SPTAN1):c.2466G>A (p.Leu822=)
|
rs2131169980
|
|
NM_001130438.3(SPTAN1):c.2481A>T (p.Gln827His)
|
rs764460035
|
|
NM_001130438.3(SPTAN1):c.2483C>T (p.Ala828Val)
|
|
|
NM_001130438.3(SPTAN1):c.2513C>T (p.Pro838Leu)
|
rs1589220462
|
|
NM_001130438.3(SPTAN1):c.2515C>T (p.Arg839Cys)
|
rs999623213
|
|
NM_001130438.3(SPTAN1):c.2516G>A (p.Arg839His)
|
rs779633188
|
|
NM_001130438.3(SPTAN1):c.2517C>T (p.Arg839=)
|
rs2131170700
|
|
NM_001130438.3(SPTAN1):c.2521A>G (p.Lys841Glu)
|
rs2131170781
|
|
NM_001130438.3(SPTAN1):c.252G>A (p.Lys84=)
|
|
|
NM_001130438.3(SPTAN1):c.2534A>G (p.Gln845Arg)
|
rs1564229501
|
|
NM_001130438.3(SPTAN1):c.2538G>A (p.Lys846=)
|
rs754477004
|
|
NM_001130438.3(SPTAN1):c.2541G>A (p.Gly847=)
|
|
|
NM_001130438.3(SPTAN1):c.2547C>G (p.Ala849=)
|
rs1554746826
|
|
NM_001130438.3(SPTAN1):c.2547C>T (p.Ala849=)
|
|
|
NM_001130438.3(SPTAN1):c.2548A>G (p.Met850Val)
|
rs371776794
|
|
NM_001130438.3(SPTAN1):c.2560+10T>C
|
rs2131171607
|
|
NM_001130438.3(SPTAN1):c.2560+19T>C
|
rs2131171763
|
|
NM_001130438.3(SPTAN1):c.2560+8_2560+11del
|
|
|
NM_001130438.3(SPTAN1):c.2560+9T>G
|
|
|
NM_001130438.3(SPTAN1):c.2561-10C>T
|
rs1268108012
|
|
NM_001130438.3(SPTAN1):c.2561-8T>C
|
|
|
NM_001130438.3(SPTAN1):c.2563C>T (p.His855Tyr)
|
|
|
NM_001130438.3(SPTAN1):c.2570C>T (p.Ala857Val)
|
rs2131193011
|
|
NM_001130438.3(SPTAN1):c.2580T>C (p.Asp860=)
|
rs1589223768
|
|
NM_001130438.3(SPTAN1):c.2581G>A (p.Val861Met)
|
|
|
NM_001130438.3(SPTAN1):c.2591A>G (p.Lys864Arg)
|
|
|
NM_001130438.3(SPTAN1):c.2592G>A (p.Lys864=)
|
rs2131193482
|
|
NM_001130438.3(SPTAN1):c.2604G>A (p.Leu868=)
|
|
|
NM_001130438.3(SPTAN1):c.2606A>G (p.Asn869Ser)
|
|
|
NM_001130438.3(SPTAN1):c.2612del (p.Lys871fs)
|
rs1852530020
|
|
NM_001130438.3(SPTAN1):c.2619G>T (p.Glu873Asp)
|
rs1288231452
|
|
NM_001130438.3(SPTAN1):c.2630C>T (p.Ala877Val)
|
|
|
NM_001130438.3(SPTAN1):c.2648G>A (p.Arg883Gln)
|
|
|
NM_001130438.3(SPTAN1):c.2652G>A (p.Gln884=)
|
|
|
NM_001130438.3(SPTAN1):c.2656C>T (p.Leu886=)
|
|
|
NM_001130438.3(SPTAN1):c.2666C>G (p.Ser889Cys)
|
rs886043660
|
|
NM_001130438.3(SPTAN1):c.2666_2686dup (p.Tyr895_Phe896insSerLeuGlnAlaGlnGlnTyr)
|
|
|
NM_001130438.3(SPTAN1):c.2674G>T (p.Ala892Ser)
|
rs587784435
|
|
NM_001130438.3(SPTAN1):c.2674_2675delinsTT (p.Ala892Phe)
|
|
|
NM_001130438.3(SPTAN1):c.2678A>G (p.Gln893Arg)
|
|
|
NM_001130438.3(SPTAN1):c.2679G>C (p.Gln893His)
|
|
|
NM_001130438.3(SPTAN1):c.2719C>T (p.Arg907Trp)
|
rs886063502
|
|
NM_001130438.3(SPTAN1):c.2720G>A (p.Arg907Gln)
|
|
|
NM_001130438.3(SPTAN1):c.2721G>A (p.Arg907=)
|
|
|
NM_001130438.3(SPTAN1):c.2733C>T (p.Pro911=)
|
rs768756536
|
|
NM_001130438.3(SPTAN1):c.2736T>C (p.Ile912=)
|
|
|
NM_001130438.3(SPTAN1):c.2746A>G (p.Thr916Ala)
|
rs1064797353
|
|
NM_001130438.3(SPTAN1):c.2752T>A (p.Tyr918Asn)
|
rs1589224403
|
|
NM_001130438.3(SPTAN1):c.2764G>A (p.Glu922Lys)
|
rs2131196507
|
|
NM_001130438.3(SPTAN1):c.276G>A (p.Val92=)
|
|
|
NM_001130438.3(SPTAN1):c.2778+10C>A
|
rs369106919
|
|
NM_001130438.3(SPTAN1):c.2778+10C>T
|
|
|
NM_001130438.3(SPTAN1):c.2778+11G>A
|
|
|
NM_001130438.3(SPTAN1):c.2778+19C>T
|
|
|
NM_001130438.3(SPTAN1):c.2778+5C>G
|
rs2131196835
|
|
NM_001130438.3(SPTAN1):c.2778+9G>C
|
rs2131197048
|
|
NM_001130438.3(SPTAN1):c.2779-13G>A
|
|
|
NM_001130438.3(SPTAN1):c.2779-18G>A
|
|
|
NM_001130438.3(SPTAN1):c.2779-20A>C
|
|
|
NM_001130438.3(SPTAN1):c.2781T>C (p.Ala927=)
|
rs1263461316
|
|
NM_001130438.3(SPTAN1):c.2781T>G (p.Ala927=)
|
rs1263461316
|
|
NM_001130438.3(SPTAN1):c.2784A>G (p.Leu928=)
|
rs1428549846
|
|
NM_001130438.3(SPTAN1):c.2785C>T (p.Leu929=)
|
rs1057522083
|
|
NM_001130438.3(SPTAN1):c.2797G>A (p.Glu933Lys)
|
|
|
NM_001130438.3(SPTAN1):c.279G>A (p.Gln93=)
|
rs1238640716
|
|
NM_001130438.3(SPTAN1):c.2806A>G (p.Met936Val)
|
|
|
NM_001130438.3(SPTAN1):c.2811A>G (p.Ser937=)
|
rs2131238281
|
|
NM_001130438.3(SPTAN1):c.2815C>T (p.Leu939Phe)
|
rs1852827656
|
|
NM_001130438.3(SPTAN1):c.2827G>A (p.Gly943Ser)
|
|
|
NM_001130438.3(SPTAN1):c.282C>T (p.Ala94=)
|
|
|
NM_001130438.3(SPTAN1):c.2850A>G (p.Arg950=)
|
|
|
NM_001130438.3(SPTAN1):c.2860del (p.Gln954fs)
|
rs2131239154
|
|
NM_001130438.3(SPTAN1):c.2861A>C (p.Gln954Pro)
|
rs796053301
|
|
NM_001130438.3(SPTAN1):c.2869C>A (p.Arg957=)
|
|
|
NM_001130438.3(SPTAN1):c.2872-14del
|
rs1853033407
|
|
NM_001130438.3(SPTAN1):c.2872-20_2872-10del
|
|
|
NM_001130438.3(SPTAN1):c.2881G>A (p.Ala961Thr)
|
|
|
NM_001130438.3(SPTAN1):c.288A>G (p.Ser96=)
|
|
|
NM_001130438.3(SPTAN1):c.2901T>C (p.Thr967=)
|
|
|
NM_001130438.3(SPTAN1):c.2902G>C (p.Gly968Arg)
|
rs2131266449
|
|
NM_001130438.3(SPTAN1):c.2914G>A (p.Val972Ile)
|
|
|
NM_001130438.3(SPTAN1):c.2916C>G (p.Val972=)
|
|
|
NM_001130438.3(SPTAN1):c.2916C>T (p.Val972=)
|
|
|
NM_001130438.3(SPTAN1):c.2926T>G (p.Tyr976Asp)
|
|
|
NM_001130438.3(SPTAN1):c.2933A>G (p.Tyr978Cys)
|
|
|
NM_001130438.3(SPTAN1):c.2937G>C (p.Gln979His)
|
rs2131267130
|
|
NM_001130438.3(SPTAN1):c.2951G>A (p.Arg984Gln)
|
rs1057521149
|
|
NM_001130438.3(SPTAN1):c.2952A>G (p.Arg984=)
|
rs1336849990
|
|
NM_001130438.3(SPTAN1):c.2961del (p.Thr987_Met988insTer)
|
rs1853049371
|
|
NM_001130438.3(SPTAN1):c.298G>A (p.Val100Ile)
|
|
|
NM_001130438.3(SPTAN1):c.3006+10A>C
|
|
|
NM_001130438.3(SPTAN1):c.3006+13G>A
|
|
|
NM_001130438.3(SPTAN1):c.3006+17G>A
|
rs1853056982
|
|
NM_001130438.3(SPTAN1):c.3006+6G>A
|
rs2131267970
|
|
NM_001130438.3(SPTAN1):c.3006+7C>T
|
|
|
NM_001130438.3(SPTAN1):c.3007-16C>T
|
|
|
NM_001130438.3(SPTAN1):c.3007-3del
|
rs1589245726
|
|
NM_001130438.3(SPTAN1):c.3007-5C>G
|
|
|
NM_001130438.3(SPTAN1):c.3030C>A (p.Asn1010Lys)
|
|
|
NM_001130438.3(SPTAN1):c.3034C>G (p.Arg1012Gly)
|
|
|
NM_001130438.3(SPTAN1):c.3045T>C (p.Phe1015=)
|
|
|
NM_001130438.3(SPTAN1):c.3048G>T (p.Val1016=)
|
|
|
NM_001130438.3(SPTAN1):c.3056C>T (p.Ala1019Val)
|
rs1349058117
|
|
NM_001130438.3(SPTAN1):c.3057G>A (p.Ala1019=)
|
rs759833805
|
|
NM_001130438.3(SPTAN1):c.3057G>T (p.Ala1019=)
|
rs759833805
|
|
NM_001130438.3(SPTAN1):c.305T>G (p.Leu102Arg)
|
rs150793549
|
|
NM_001130438.3(SPTAN1):c.3076C>T (p.Pro1026Ser)
|
|
|
NM_001130438.3(SPTAN1):c.3077C>G (p.Pro1026Arg)
|
rs1853527559
|
|
NM_001130438.3(SPTAN1):c.3079G>A (p.Ala1027Thr)
|
rs779759134
|
|
NM_001130438.3(SPTAN1):c.3081C>A (p.Ala1027=)
|
|
|
NM_001130438.3(SPTAN1):c.3087A>G (p.Ser1029=)
|
|
|
NM_001130438.3(SPTAN1):c.3088G>C (p.Ala1030Pro)
|
rs1554751018
|
|
NM_001130438.3(SPTAN1):c.3094C>A (p.Arg1032=)
|
|
|
NM_001130438.3(SPTAN1):c.3095G>A (p.Arg1032Gln)
|
rs765075763
|
|
NM_001130438.3(SPTAN1):c.3097G>A (p.Glu1033Lys)
|
|
|
NM_001130438.3(SPTAN1):c.3100A>G (p.Asn1034Asp)
|
|
|
NM_001130438.3(SPTAN1):c.3102T>A (p.Asn1034Lys)
|
rs760755333
|
|
NM_001130438.3(SPTAN1):c.3102T>G (p.Asn1034Lys)
|
|
|
NM_001130438.3(SPTAN1):c.3103C>A (p.Leu1035Ile)
|
|
|
NM_001130438.3(SPTAN1):c.3103C>T (p.Leu1035Phe)
|
rs1853533209
|
|
NM_001130438.3(SPTAN1):c.3116A>G (p.Gln1039Arg)
|
rs1853534747
|
|
NM_001130438.3(SPTAN1):c.3121A>G (p.Ser1041Gly)
|
rs2131319338
|
|
NM_001130438.3(SPTAN1):c.3131T>C (p.Leu1044Pro)
|
|
|
NM_001130438.3(SPTAN1):c.3139G>A (p.Glu1047Lys)
|
rs1853536448
|
|
NM_001130438.3(SPTAN1):c.3144G>T (p.Gln1048His)
|
|
|
NM_001130438.3(SPTAN1):c.3145A>G (p.Ile1049Val)
|
|
|
NM_001130438.3(SPTAN1):c.3146T>C (p.Ile1049Thr)
|
|
|
NM_001130438.3(SPTAN1):c.3155+11C>T
|
|
|
NM_001130438.3(SPTAN1):c.3155+6G>A
|
|
|
NM_001130438.3(SPTAN1):c.3156-12C>A
|
rs1328344344
|
|
NM_001130438.3(SPTAN1):c.3156-15G>A
|
|
|
NM_001130438.3(SPTAN1):c.3156-17G>C
|
|
|
NM_001130438.3(SPTAN1):c.3156-4G>A
|
rs549061995
|
|
NM_001130438.3(SPTAN1):c.3156-6G>T
|
|
|
NM_001130438.3(SPTAN1):c.315T>C (p.Thr105=)
|
rs1182605348
|
|
NM_001130438.3(SPTAN1):c.3161G>C (p.Arg1054Pro)
|
|
|
NM_001130438.3(SPTAN1):c.3167C>T (p.Thr1056Ile)
|
rs1428641675
|
|
NM_001130438.3(SPTAN1):c.316G>A (p.Gly106Arg)
|
rs1564197227
|
|
NM_001130438.3(SPTAN1):c.3177C>G (p.Ala1059=)
|
rs369531936
|
|
NM_001130438.3(SPTAN1):c.3182G>C (p.Ser1061Thr)
|
|
|
NM_001130438.3(SPTAN1):c.3196A>G (p.Met1066Val)
|
rs764844675
|
|
NM_001130438.3(SPTAN1):c.3202C>G (p.Gln1068Glu)
|
rs2131342579
|
|
NM_001130438.3(SPTAN1):c.3213A>C (p.Glu1071Asp)
|
|
|
NM_001130438.3(SPTAN1):c.3215+11T>C
|
|
|
NM_001130438.3(SPTAN1):c.3215+12G>T
|
|
|
NM_001130438.3(SPTAN1):c.3215+15A>T
|
rs367678277
|
|
NM_001130438.3(SPTAN1):c.3215+15_3215+16del
|
rs551595039
|
|
NM_001130438.3(SPTAN1):c.3215+9G>A
|
|
|
NM_001130438.3(SPTAN1):c.3216-17C>G
|
rs376147583
|
|
NM_001130438.3(SPTAN1):c.3216-17C>T
|
|
|
NM_001130438.3(SPTAN1):c.3220C>A (p.His1074Asn)
|
rs1349491364
|
|
NM_001130438.3(SPTAN1):c.3228G>A (p.Leu1076=)
|
|
|
NM_001130438.3(SPTAN1):c.322C>G (p.Leu108Val)
|
rs2130860508
|
|
NM_001130438.3(SPTAN1):c.3247C>T (p.Arg1083Cys)
|
rs750290385
|
|
NM_001130438.3(SPTAN1):c.3251_3252del (p.Lys1084fs)
|
rs2131360489
|
|
NM_001130438.3(SPTAN1):c.3253G>A (p.Gly1085Ser)
|
|
|
NM_001130438.3(SPTAN1):c.3267G>A (p.Lys1089=)
|
rs2131360582
|
|
NM_001130438.3(SPTAN1):c.3279del (p.Lys1093fs)
|
rs1853919580
|
|
NM_001130438.3(SPTAN1):c.3283A>C (p.Met1095Leu)
|
rs2131360708
|
|
NM_001130438.3(SPTAN1):c.3292C>G (p.Arg1098Gly)
|
rs1853920585
|
|
NM_001130438.3(SPTAN1):c.3292C>T (p.Arg1098Cys)
|
rs1853920585
|
|
NM_001130438.3(SPTAN1):c.3292del (p.Arg1098fs)
|
|
|
NM_001130438.3(SPTAN1):c.3293G>A (p.Arg1098His)
|
rs1853921006
|
|
NM_001130438.3(SPTAN1):c.3299C>T (p.Ala1100Val)
|
|
|
NM_001130438.3(SPTAN1):c.3304G>C (p.Glu1102Gln)
|
|
|
NM_001130438.3(SPTAN1):c.3310C>A (p.Gln1104Lys)
|
|
|
NM_001130438.3(SPTAN1):c.3316T>C (p.Trp1106Arg)
|
|
|
NM_001130438.3(SPTAN1):c.3318G>C (p.Trp1106Cys)
|
|
|
NM_001130438.3(SPTAN1):c.3321C>T (p.Ile1107=)
|
|
|
NM_001130438.3(SPTAN1):c.3323A>G (p.Asn1108Ser)
|
|
|
NM_001130438.3(SPTAN1):c.3336C>T (p.Ala1112=)
|
|
|
NM_001130438.3(SPTAN1):c.3360A>G (p.Gly1120=)
|
|
|
NM_001130438.3(SPTAN1):c.3365A>G (p.Asp1122Gly)
|
|
|
NM_001130438.3(SPTAN1):c.3390G>A (p.Gln1130=)
|
rs2131361631
|
|
NM_001130438.3(SPTAN1):c.3414+12C>T
|
rs2131361950
|
|
NM_001130438.3(SPTAN1):c.3415-11T>C
|
|
|
NM_001130438.3(SPTAN1):c.3415-14C>T
|
|
|
NM_001130438.3(SPTAN1):c.3415-17T>C
|
|
|
NM_001130438.3(SPTAN1):c.3425C>T (p.Ala1142Val)
|
rs1854605015
|
|
NM_001130438.3(SPTAN1):c.3437G>A (p.Arg1146Gln)
|
rs1854606025
|
|
NM_001130438.3(SPTAN1):c.3444G>T (p.Lys1148Asn)
|
|
|
NM_001130438.3(SPTAN1):c.3472G>A (p.Glu1158Lys)
|
rs1379161622
|
|
NM_001130438.3(SPTAN1):c.348A>G (p.Ala116=)
|
|
|
NM_001130438.3(SPTAN1):c.3491C>T (p.Ala1164Val)
|
|
|
NM_001130438.3(SPTAN1):c.3512A>G (p.Gln1171Arg)
|
rs2131438786
|
|
NM_001130438.3(SPTAN1):c.3519+5GT[3]
|
|
|
NM_001130438.3(SPTAN1):c.3519+7G>A
|
|
|
NM_001130438.3(SPTAN1):c.3519+9C>G
|
|
|
NM_001130438.3(SPTAN1):c.3520-15T>C
|
|
|
NM_001130438.3(SPTAN1):c.3520-17TC[6]
|
|
|
NM_001130438.3(SPTAN1):c.3520-2A>G
|
|
|
NM_001130438.3(SPTAN1):c.3523G>A (p.Val1175Met)
|
|
|
NM_001130438.3(SPTAN1):c.3523G>C (p.Val1175Leu)
|
|
|
NM_001130438.3(SPTAN1):c.3528T>C (p.Tyr1176=)
|
rs1589272670
|
|
NM_001130438.3(SPTAN1):c.3530G>A (p.Gly1177Asp)
|
|
|
NM_001130438.3(SPTAN1):c.3530G>T (p.Gly1177Val)
|
|
|
NM_001130438.3(SPTAN1):c.3536T>C (p.Met1179Thr)
|
rs564155435
|
|
NM_001130438.3(SPTAN1):c.3538C>T (p.Pro1180Ser)
|
rs1554754141
|
|
NM_001130438.3(SPTAN1):c.3540C>G (p.Pro1180=)
|
rs1060504932
|
|
NM_001130438.3(SPTAN1):c.3542G>T (p.Arg1181Met)
|
|
|
NM_001130438.3(SPTAN1):c.3543+13T>C
|
|
|
NM_001130438.3(SPTAN1):c.3543+14G>C
|
|
|
NM_001130438.3(SPTAN1):c.3543+16TG[3]
|
|
|
NM_001130438.3(SPTAN1):c.3543+19G>A
|
|
|
NM_001130438.3(SPTAN1):c.3544-15T>G
|
rs2131474529
|
|
NM_001130438.3(SPTAN1):c.3544-17C>T
|
|
|
NM_001130438.3(SPTAN1):c.3544-7dup
|
|
|
NM_001130438.3(SPTAN1):c.3562A>G (p.Thr1188Ala)
|
rs2131475357
|
|
NM_001130438.3(SPTAN1):c.3565G>A (p.Ala1189Thr)
|
|
|
NM_001130438.3(SPTAN1):c.3566C>A (p.Ala1189Asp)
|
rs1004013873
|
|
NM_001130438.3(SPTAN1):c.3567C>A (p.Ala1189=)
|
rs2131475513
|
|
NM_001130438.3(SPTAN1):c.3568T>G (p.Ser1190Ala)
|
rs2131475553
|
|
NM_001130438.3(SPTAN1):c.3571C>T (p.Pro1191Ser)
|
|
|
NM_001130438.3(SPTAN1):c.3572C>T (p.Pro1191Leu)
|
rs796053304
|
|
NM_001130438.3(SPTAN1):c.3573G>A (p.Pro1191=)
|
rs781021400
|
|
NM_001130438.3(SPTAN1):c.3574T>C (p.Trp1192Arg)
|
rs796053305
|
|
NM_001130438.3(SPTAN1):c.3579+21del
|
rs2131476505
|
|
NM_001130438.3(SPTAN1):c.3579+3A>G
|
|
|
NM_001130438.3(SPTAN1):c.3579+5_3579+8del
|
|
|
NM_001130438.3(SPTAN1):c.3579+8C>A
|
rs1854910788
|
|
NM_001130438.3(SPTAN1):c.3579G>A (p.Lys1193=)
|
|
|
NM_001130438.3(SPTAN1):c.3580-5_3580-2del
|
rs754528571
|
|
NM_001130438.3(SPTAN1):c.3580-8C>G
|
|
|
NM_001130438.3(SPTAN1):c.3584C>T (p.Ala1195Val)
|
|
|
NM_001130438.3(SPTAN1):c.3587G>A (p.Arg1196His)
|
|
|
NM_001130438.3(SPTAN1):c.358A>G (p.Ile120Val)
|
rs1244278345
|
|
NM_001130438.3(SPTAN1):c.3603C>T (p.Thr1201=)
|
|
|
NM_001130438.3(SPTAN1):c.361C>T (p.Arg121Trp)
|
rs1376670407
|
|
NM_001130438.3(SPTAN1):c.3623T>C (p.Ile1208Thr)
|
|
|
NM_001130438.3(SPTAN1):c.3626A>C (p.Lys1209Thr)
|
|
|
NM_001130438.3(SPTAN1):c.3627+20_3627+21delinsAG
|
|
|
NM_001130438.3(SPTAN1):c.3628-10T>C
|
rs975869088
|
|
NM_001130438.3(SPTAN1):c.3628-16T>C
|
|
|
NM_001130438.3(SPTAN1):c.3628-18T>C
|
rs2131557625
|
|
NM_001130438.3(SPTAN1):c.3628-19A>T
|
rs1054939979
|
|
NM_001130438.3(SPTAN1):c.363+14G>A
|
|
|
NM_001130438.3(SPTAN1):c.363+18G>T
|
|
|
NM_001130438.3(SPTAN1):c.363+1G>A
|
rs1554737064
|
|
NM_001130438.3(SPTAN1):c.363+3G>A
|
|
|
NM_001130438.3(SPTAN1):c.363G>A (p.Arg121=)
|
rs1312160720
|
|
NM_001130438.3(SPTAN1):c.363_363+18dup
|
|
|
NM_001130438.3(SPTAN1):c.364-14T>A
|
rs1851102352
|
|
NM_001130438.3(SPTAN1):c.364-20C>T
|
rs780867742
|
|
NM_001130438.3(SPTAN1):c.364-3C>G
|
rs1851102695
|
|
NM_001130438.3(SPTAN1):c.364-7C>T
|
|
|
NM_001130438.3(SPTAN1):c.3641_3658dup (p.Gln1219_Gln1220insArgTrpArgSerLeuGln)
|
|
|
NM_001130438.3(SPTAN1):c.3647G>T (p.Arg1216Leu)
|
|
|
NM_001130438.3(SPTAN1):c.3659A>G (p.Gln1220Arg)
|
|
|
NM_001130438.3(SPTAN1):c.3663G>A (p.Leu1221=)
|
|
|
NM_001130438.3(SPTAN1):c.3664G>T (p.Ala1222Ser)
|
rs796053306
|
|
NM_001130438.3(SPTAN1):c.3666C>T (p.Ala1222=)
|
rs372831978
|
|
NM_001130438.3(SPTAN1):c.366C>T (p.Thr122=)
|
|
|
NM_001130438.3(SPTAN1):c.3716A>G (p.His1239Arg)
|
rs1554756114
|
|
NM_001130438.3(SPTAN1):c.3719+12_3719+14del
|
rs1013786773
|
|
NM_001130438.3(SPTAN1):c.3719+13C>A
|
rs558756418
|
|
NM_001130438.3(SPTAN1):c.3719+13C>G
|
|
|
NM_001130438.3(SPTAN1):c.3719+14C>T
|
rs2131559207
|
|
NM_001130438.3(SPTAN1):c.3719+16T>C
|
|
|
NM_001130438.3(SPTAN1):c.3719+18G>A
|
rs2131559361
|
|
NM_001130438.3(SPTAN1):c.3719+19G>T
|
|
|
NM_001130438.3(SPTAN1):c.3719+5G>C
|
|
|
NM_001130438.3(SPTAN1):c.3720-17A>G
|
|
|
NM_001130438.3(SPTAN1):c.3720-8G>C
|
|
|
NM_001130438.3(SPTAN1):c.3720-9C>T
|
|
|
NM_001130438.3(SPTAN1):c.3722A>G (p.Asp1241Gly)
|
rs2131571144
|
|
NM_001130438.3(SPTAN1):c.372G>A (p.Leu124=)
|
|
|
NM_001130438.3(SPTAN1):c.373A>G (p.Met125Val)
|
rs1564206483
|
|
NM_001130438.3(SPTAN1):c.373A>T (p.Met125Leu)
|
|
|
NM_001130438.3(SPTAN1):c.374T>C (p.Met125Thr)
|
rs2130964756
|
|
NM_001130438.3(SPTAN1):c.3756G>C (p.Lys1252Asn)
|
rs1855650696
|
|
NM_001130438.3(SPTAN1):c.3775G>A (p.Asp1259Asn)
|
rs1855652617
|
|
NM_001130438.3(SPTAN1):c.3776A>G (p.Asp1259Gly)
|
rs1229172232
|
|
NM_001130438.3(SPTAN1):c.3781T>C (p.Tyr1261His)
|
|
|
NM_001130438.3(SPTAN1):c.3783T>C (p.Tyr1261=)
|
rs1589296050
|
|
NM_001130438.3(SPTAN1):c.3789T>C (p.His1263=)
|
rs1855655548
|
|
NM_001130438.3(SPTAN1):c.37G>C (p.Glu13Gln)
|
|
|
NM_001130438.3(SPTAN1):c.3804C>T (p.Val1268=)
|
|
|
NM_001130438.3(SPTAN1):c.3810C>T (p.Ala1270=)
|
|
|
NM_001130438.3(SPTAN1):c.3817C>T (p.Arg1273Cys)
|
rs1160926095
|
|
NM_001130438.3(SPTAN1):c.381G>A (p.Leu127=)
|
|
|
NM_001130438.3(SPTAN1):c.3834C>T (p.Phe1278=)
|
rs1589296272
|
|
NM_001130438.3(SPTAN1):c.3840G>A (p.Arg1280=)
|
|
|
NM_001130438.3(SPTAN1):c.3855C>T (p.Leu1285=)
|
rs370435310
|
|
NM_001130438.3(SPTAN1):c.3864+10C>A
|
|
|
NM_001130438.3(SPTAN1):c.3864+16G>A
|
rs2131573539
|
|
NM_001130438.3(SPTAN1):c.3864+6A>G
|
|
|
NM_001130438.3(SPTAN1):c.3865-16C>A
|
|
|
NM_001130438.3(SPTAN1):c.3865-4A>T
|
rs769349794
|
|
NM_001130438.3(SPTAN1):c.3865-8T>C
|
rs1197311171
|
|
NM_001130438.3(SPTAN1):c.3867A>C (p.Val1289=)
|
|
|
NM_001130438.3(SPTAN1):c.3872C>T (p.Ser1291Phe)
|
|
|
NM_001130438.3(SPTAN1):c.3877G>T (p.Gly1293Cys)
|
|
|
NM_001130438.3(SPTAN1):c.3885A>G (p.Thr1295=)
|
|
|
NM_001130438.3(SPTAN1):c.3899T>C (p.Ile1300Thr)
|
rs1048236
|
|
NM_001130438.3(SPTAN1):c.3903G>T (p.Gln1301His)
|
rs1232892387
|
|
NM_001130438.3(SPTAN1):c.3906C>G (p.Ser1302=)
|
rs1855689306
|
|
NM_001130438.3(SPTAN1):c.390G>T (p.Gln130His)
|
rs975951020
|
|
NM_001130438.3(SPTAN1):c.3956A>G (p.Gln1319Arg)
|
rs1412090989
|
|
NM_001130438.3(SPTAN1):c.3980G>A (p.Arg1327His)
|
|
|
NM_001130438.3(SPTAN1):c.3981T>G (p.Arg1327=)
|
rs1855698042
|
|
NM_001130438.3(SPTAN1):c.3988C>G (p.Gln1330Glu)
|
|
|
NM_001130438.3(SPTAN1):c.3991C>A (p.Arg1331Ser)
|
rs1407200590
|
|
NM_001130438.3(SPTAN1):c.3992G>A (p.Arg1331His)
|
|
|
NM_001130438.3(SPTAN1):c.3998C>G (p.Ala1333Gly)
|
rs2131576989
|
|
NM_001130438.3(SPTAN1):c.3999A>G (p.Ala1333=)
|
|
|
NM_001130438.3(SPTAN1):c.4009G>A (p.Asp1337Asn)
|
|
|
NM_001130438.3(SPTAN1):c.4011C>T (p.Asp1337=)
|
rs1296309754
|
|
NM_001130438.3(SPTAN1):c.4020C>T (p.Asp1340=)
|
rs2131577299
|
|
NM_001130438.3(SPTAN1):c.4023G>C (p.Leu1341=)
|
|
|
NM_001130438.3(SPTAN1):c.4029C>A (p.Arg1343=)
|
|
|
NM_001130438.3(SPTAN1):c.4046+11A>G
|
rs765778684
|
|
NM_001130438.3(SPTAN1):c.4046+12T>C
|
|
|
NM_001130438.3(SPTAN1):c.4046+5G>A
|
rs541570752
|
|
NM_001130438.3(SPTAN1):c.4046+6G>A
|
rs1589298035
|
|
NM_001130438.3(SPTAN1):c.4047-14G>A
|
|
|
NM_001130438.3(SPTAN1):c.4047-14G>C
|
rs558154123
|
|
NM_001130438.3(SPTAN1):c.4047-14G>T
|
rs558154123
|
|
NM_001130438.3(SPTAN1):c.4047-18T>G
|
|
|
NM_001130438.3(SPTAN1):c.4048G>A (p.Asp1350Asn)
|
rs1564278818
|
|
NM_001130438.3(SPTAN1):c.4055T>C (p.Met1352Thr)
|
|
|
NM_001130438.3(SPTAN1):c.405G>C (p.Leu135Phe)
|
|
|
NM_001130438.3(SPTAN1):c.4067A>G (p.Asn1356Ser)
|
|
|
NM_001130438.3(SPTAN1):c.4071A>G (p.Gly1357=)
|
|
|
NM_001130438.3(SPTAN1):c.4079G>T (p.Gly1360Val)
|
rs2131613100
|
|
NM_001130438.3(SPTAN1):c.4094A>G (p.Asp1365Gly)
|
rs1175320305
|
|
NM_001130438.3(SPTAN1):c.4115C>T (p.Thr1372Ile)
|
rs2131613513
|
|
NM_001130438.3(SPTAN1):c.4117G>A (p.Gly1373Arg)
|
|
|
NM_001130438.3(SPTAN1):c.4125G>A (p.Glu1375=)
|
|
|
NM_001130438.3(SPTAN1):c.4128A>T (p.Ala1376=)
|
rs2131613638
|
|
NM_001130438.3(SPTAN1):c.4138C>A (p.Arg1380=)
|
|
|
NM_001130438.3(SPTAN1):c.4143C>T (p.His1381=)
|
|
|
NM_001130438.3(SPTAN1):c.4146+10C>G
|
|
|
NM_001130438.3(SPTAN1):c.4146+12T>C
|
|
|
NM_001130438.3(SPTAN1):c.4146+3G>A
|
rs990426186
|
|
NM_001130438.3(SPTAN1):c.4146+4G>C
|
rs1856067067
|
|
NM_001130438.3(SPTAN1):c.4147-10C>T
|
rs1856089219
|
|
NM_001130438.3(SPTAN1):c.4147-10_4147-8del
|
rs1589309345
|
|
NM_001130438.3(SPTAN1):c.4147-20C>A
|
|
|
NM_001130438.3(SPTAN1):c.4148A>G (p.Glu1383Gly)
|
rs1019310261
|
|
NM_001130438.3(SPTAN1):c.4153C>T (p.Arg1385Trp)
|
rs770189298
|
|
NM_001130438.3(SPTAN1):c.415C>T (p.Arg139Ter)
|
rs1851109762
|
|
NM_001130438.3(SPTAN1):c.4164C>G (p.Ile1388Met)
|
rs759713935
|
|
NM_001130438.3(SPTAN1):c.4170C>T (p.Ala1390=)
|
rs1589309475
|
|
NM_001130438.3(SPTAN1):c.4184T>C (p.Phe1395Ser)
|
rs1239390443
|
|
NM_001130438.3(SPTAN1):c.4197G>A (p.Glu1399=)
|
rs367635991
|
|
NM_001130438.3(SPTAN1):c.4201T>A (p.Phe1401Ile)
|
|
|
NM_001130438.3(SPTAN1):c.4205G>A (p.Gly1402Glu)
|
|
|
NM_001130438.3(SPTAN1):c.420A>G (p.Glu140=)
|
|
|
NM_001130438.3(SPTAN1):c.4215G>A (p.Leu1405=)
|
|
|
NM_001130438.3(SPTAN1):c.4215G>T (p.Leu1405=)
|
rs754607337
|
|
NM_001130438.3(SPTAN1):c.4219G>T (p.Ala1407Ser)
|
rs2131616745
|
|
NM_001130438.3(SPTAN1):c.4223A>G (p.His1408Arg)
|
rs2131616851
|
|
NM_001130438.3(SPTAN1):c.4226G>A (p.Gly1409Glu)
|
|
|
NM_001130438.3(SPTAN1):c.4227A>G (p.Gly1409=)
|
|
|
NM_001130438.3(SPTAN1):c.4229A>G (p.His1410Arg)
|
|
|
NM_001130438.3(SPTAN1):c.4241C>T (p.Pro1414Leu)
|
|
|
NM_001130438.3(SPTAN1):c.4248C>G (p.Ile1416Met)
|
|
|
NM_001130438.3(SPTAN1):c.4249A>G (p.Lys1417Glu)
|
rs2131617226
|
|
NM_001130438.3(SPTAN1):c.4252C>A (p.Gln1418Lys)
|
rs1156309213
|
|
NM_001130438.3(SPTAN1):c.4263T>C (p.Asp1421=)
|
|
|
NM_001130438.3(SPTAN1):c.4266T>C (p.Ile1422=)
|
|
|
NM_001130438.3(SPTAN1):c.4278G>A (p.Glu1426=)
|
rs2131617669
|
|
NM_001130438.3(SPTAN1):c.4285G>A (p.Asp1429Asn)
|
|
|
NM_001130438.3(SPTAN1):c.428T>A (p.Ile143Asn)
|
|
|
NM_001130438.3(SPTAN1):c.4296G>T (p.Lys1432Asn)
|
|
|
NM_001130438.3(SPTAN1):c.4297G>C (p.Ala1433Pro)
|
rs1444736163
|
|
NM_001130438.3(SPTAN1):c.4330T>C (p.Cys1444Arg)
|
|
|
NM_001130438.3(SPTAN1):c.4331G>A (p.Cys1444Tyr)
|
|
|
NM_001130438.3(SPTAN1):c.4343A>C (p.Gln1448Pro)
|
rs1856116625
|
|
NM_001130438.3(SPTAN1):c.4344+10C>T
|
|
|
NM_001130438.3(SPTAN1):c.4344+12C>T
|
|
|
NM_001130438.3(SPTAN1):c.4344+13C>T
|
|
|
NM_001130438.3(SPTAN1):c.4344+5G>C
|
|
|
NM_001130438.3(SPTAN1):c.4344+6T>C
|
rs2131618659
|
|
NM_001130438.3(SPTAN1):c.4345-13T>A
|
|
|
NM_001130438.3(SPTAN1):c.4345-18G>T
|
|
|
NM_001130438.3(SPTAN1):c.4345-19T>G
|
|
|
NM_001130438.3(SPTAN1):c.4345-3T>C
|
|
|
NM_001130438.3(SPTAN1):c.4345-9C>A
|
|
|
NM_001130438.3(SPTAN1):c.4350C>A (p.Phe1450Leu)
|
|
|
NM_001130438.3(SPTAN1):c.4354C>T (p.Arg1452Trp)
|
|
|
NM_001130438.3(SPTAN1):c.4360T>G (p.Cys1454Gly)
|
rs1220414198
|
|
NM_001130438.3(SPTAN1):c.4364A>G (p.Glu1455Gly)
|
|
|
NM_001130438.3(SPTAN1):c.4364A>T (p.Glu1455Val)
|
|
|
NM_001130438.3(SPTAN1):c.4378T>C (p.Trp1460Arg)
|
|
|
NM_001130438.3(SPTAN1):c.4388C>A (p.Ala1463Asp)
|
|
|
NM_001130438.3(SPTAN1):c.4390C>T (p.Arg1464Trp)
|
rs1489830382
|
|
NM_001130438.3(SPTAN1):c.4391G>T (p.Arg1464Leu)
|
|
|
NM_001130438.3(SPTAN1):c.4392G>A (p.Arg1464=)
|
|
|
NM_001130438.3(SPTAN1):c.4397C>A (p.Ala1466Asp)
|
|
|
NM_001130438.3(SPTAN1):c.4411G>A (p.Glu1471Lys)
|
|
|
NM_001130438.3(SPTAN1):c.4414_4415delinsAC (p.Asp1472Thr)
|
|
|
NM_001130438.3(SPTAN1):c.442G>A (p.Ala148Thr)
|
rs1190475290
|
|
NM_001130438.3(SPTAN1):c.4432G>A (p.Asp1478Asn)
|
rs2131620796
|
|
NM_001130438.3(SPTAN1):c.4435A>G (p.Ser1479Gly)
|
|
|
NM_001130438.3(SPTAN1):c.4438G>A (p.Val1480Ile)
|
|
|
NM_001130438.3(SPTAN1):c.4455A>C (p.Lys1485Asn)
|
rs1856146384
|
|
NM_001130438.3(SPTAN1):c.4458A>G (p.Lys1486=)
|
rs1411742904
|
|
NM_001130438.3(SPTAN1):c.4460A>G (p.His1487Arg)
|
rs1589311413
|
|
NM_001130438.3(SPTAN1):c.4460A>T (p.His1487Leu)
|
rs1589311413
|
|
NM_001130438.3(SPTAN1):c.4478C>T (p.Ala1493Val)
|
rs2131621179
|
|
NM_001130438.3(SPTAN1):c.4479G>T (p.Ala1493=)
|
rs201716851
|
|
NM_001130438.3(SPTAN1):c.447G>T (p.Gln149His)
|
|
|
NM_001130438.3(SPTAN1):c.4482T>C (p.Ile1494=)
|
|
|
NM_001130438.3(SPTAN1):c.4486G>A (p.Val1496Ile)
|
|
|
NM_001130438.3(SPTAN1):c.4490A>C (p.Gln1497Pro)
|
rs1856150338
|
|
NM_001130438.3(SPTAN1):c.4491+12G>A
|
|
|
NM_001130438.3(SPTAN1):c.4491+17A>G
|
|
|
NM_001130438.3(SPTAN1):c.4491+18T>C
|
rs777889951
|
|
NM_001130438.3(SPTAN1):c.4491+8C>T
|
|
|
NM_001130438.3(SPTAN1):c.4491+9T>C
|
rs894723847
|
|
NM_001130438.3(SPTAN1):c.4492-20A>G
|
rs944908728
|
|
NM_001130438.3(SPTAN1):c.4497G>A (p.Glu1499=)
|
|
|
NM_001130438.3(SPTAN1):c.4514A>T (p.Gln1505Leu)
|
rs2131630842
|
|
NM_001130438.3(SPTAN1):c.4515G>A (p.Gln1505=)
|
rs1430495860
|
|
NM_001130438.3(SPTAN1):c.4518C>A (p.Ala1506=)
|
rs777801455
|
|
NM_001130438.3(SPTAN1):c.4518C>G (p.Ala1506=)
|
rs777801455
|
|
NM_001130438.3(SPTAN1):c.4518C>T (p.Ala1506=)
|
|
|
NM_001130438.3(SPTAN1):c.451T>A (p.Leu151Met)
|
rs2130966073
|
|
NM_001130438.3(SPTAN1):c.4526A>G (p.Asp1509Gly)
|
|
|
NM_001130438.3(SPTAN1):c.4533C>G (p.Leu1511=)
|
rs375026050
|
|
NM_001130438.3(SPTAN1):c.4535T>A (p.Ile1512Asn)
|
|
|
NM_001130438.3(SPTAN1):c.4537G>A (p.Ala1513Thr)
|
|
|
NM_001130438.3(SPTAN1):c.4542C>T (p.Ala1514=)
|
|
|
NM_001130438.3(SPTAN1):c.4543G>T (p.Gly1515Cys)
|
rs149899658
|
|
NM_001130438.3(SPTAN1):c.4547A>C (p.His1516Pro)
|
rs1060503491
|
|
NM_001130438.3(SPTAN1):c.4547A>G (p.His1516Arg)
|
rs1060503491
|
|
NM_001130438.3(SPTAN1):c.4551T>C (p.Tyr1517=)
|
rs570247500
|
|
NM_001130438.3(SPTAN1):c.4552G>A (p.Ala1518Thr)
|
rs1564282020
|
|
NM_001130438.3(SPTAN1):c.4556A>G (p.Lys1519Arg)
|
|
|
NM_001130438.3(SPTAN1):c.4561G>T (p.Asp1521Tyr)
|
|
|
NM_001130438.3(SPTAN1):c.4569T>C (p.Ser1523=)
|
rs757364140
|
|
NM_001130438.3(SPTAN1):c.456G>T (p.Val152=)
|
rs1589176928
|
|
NM_001130438.3(SPTAN1):c.4571G>A (p.Ser1524Asn)
|
|
|
NM_001130438.3(SPTAN1):c.4573C>T (p.Arg1525Trp)
|
|
|
NM_001130438.3(SPTAN1):c.4585G>C (p.Val1529Leu)
|
rs2131632285
|
|
NM_001130438.3(SPTAN1):c.4595+18C>T
|
|
|
NM_001130438.3(SPTAN1):c.4595+7G>A
|
|
|
NM_001130438.3(SPTAN1):c.4596-17T>A
|
|
|
NM_001130438.3(SPTAN1):c.45C>T (p.Ile15=)
|
rs1589149454
|
|
NM_001130438.3(SPTAN1):c.4605T>C (p.Arg1535=)
|
|
|
NM_001130438.3(SPTAN1):c.4614C>T (p.Ala1538=)
|
rs769733032
|
|
NM_001130438.3(SPTAN1):c.4615C>G (p.Gln1539Glu)
|
rs2131635386
|
|
NM_001130438.3(SPTAN1):c.4622T>C (p.Ile1541Thr)
|
|
|
NM_001130438.3(SPTAN1):c.4630A>C (p.Arg1544=)
|
rs373650761
|
|
NM_001130438.3(SPTAN1):c.4640T>A (p.Leu1547Gln)
|
rs1856289676
|
|
NM_001130438.3(SPTAN1):c.4641A>G (p.Leu1547=)
|
|
|
NM_001130438.3(SPTAN1):c.4653A>G (p.Gln1551=)
|
rs2131635657
|
|
NM_001130438.3(SPTAN1):c.4655C>G (p.Thr1552Ser)
|
|
|
NM_001130438.3(SPTAN1):c.4672C>A (p.Arg1558=)
|
|
|
NM_001130438.3(SPTAN1):c.4674G>T (p.Arg1558=)
|
rs1554758298
|
|
NM_001130438.3(SPTAN1):c.4677T>C (p.Asp1559=)
|
rs2131635862
|
|
NM_001130438.3(SPTAN1):c.4678G>A (p.Val1560Met)
|
rs1856292384
|
|
NM_001130438.3(SPTAN1):c.4686G>A (p.Glu1562=)
|
rs2131635933
|
|
NM_001130438.3(SPTAN1):c.4700T>G (p.Ile1567Ser)
|
|
|
NM_001130438.3(SPTAN1):c.470A>G (p.Glu157Gly)
|
|
|
NM_001130438.3(SPTAN1):c.4716A>G (p.Gln1572=)
|
rs755612920
|
|
NM_001130438.3(SPTAN1):c.472T>C (p.Cys158Arg)
|
|
|
NM_001130438.3(SPTAN1):c.4733C>T (p.Ser1578Leu)
|
rs756887707
|
|
NM_001130438.3(SPTAN1):c.4734G>A (p.Ser1578=)
|
rs370640807
|
|
NM_001130438.3(SPTAN1):c.4734G>T (p.Ser1578=)
|
|
|
NM_001130438.3(SPTAN1):c.4747A>C (p.Thr1583Pro)
|
rs1856299526
|
|
NM_001130438.3(SPTAN1):c.4758+14A>T
|
|
|
NM_001130438.3(SPTAN1):c.4758+17G>A
|
|
|
NM_001130438.3(SPTAN1):c.4758+5G>A
|
rs1589316336
|
|
NM_001130438.3(SPTAN1):c.4759-12C>T
|
|
|
NM_001130438.3(SPTAN1):c.4767G>A (p.Lys1589=)
|
|
|
NM_001130438.3(SPTAN1):c.4773+20A>G
|
|
|
NM_001130438.3(SPTAN1):c.4774-17T>G
|
|
|
NM_001130438.3(SPTAN1):c.4774-8A>G
|
|
|
NM_001130438.3(SPTAN1):c.47A>G (p.Gln16Arg)
|
rs2132957298
|
|
NM_001130438.3(SPTAN1):c.4804G>A (p.Ala1602Thr)
|
rs776999454
|
|
NM_001130438.3(SPTAN1):c.4806A>C (p.Ala1602=)
|
|
|
NM_001130438.3(SPTAN1):c.4813C>T (p.His1605Tyr)
|
rs1564286708
|
|
NM_001130438.3(SPTAN1):c.4814A>G (p.His1605Arg)
|
|
|
NM_001130438.3(SPTAN1):c.4815T>C (p.His1605=)
|
rs2131676265
|
|
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.482T>C (p.Val161Ala)
|
|
|
NM_001130438.3(SPTAN1):c.4834C>T (p.Arg1612Cys)
|
|
|
NM_001130438.3(SPTAN1):c.4835G>A (p.Arg1612His)
|
|
|
NM_001130438.3(SPTAN1):c.4839G>A (p.Gly1613=)
|
|
|
NM_001130438.3(SPTAN1):c.4845C>T (p.Ile1615=)
|
|
|
NM_001130438.3(SPTAN1):c.4846G>A (p.Asp1616Asn)
|
|
|
NM_001130438.3(SPTAN1):c.4849A>G (p.Met1617Val)
|
|
|
NM_001130438.3(SPTAN1):c.4852G>A (p.Gly1618Ser)
|
rs1554759745
|
|
NM_001130438.3(SPTAN1):c.4863C>T (p.Leu1621=)
|
|
|
NM_001130438.3(SPTAN1):c.4884C>T (p.Ala1628=)
|
rs759241143
|
|
NM_001130438.3(SPTAN1):c.4885G>A (p.Gly1629Ser)
|
|
|
NM_001130438.3(SPTAN1):c.4887C>T (p.Gly1629=)
|
rs1057522726
|
|
NM_001130438.3(SPTAN1):c.4905+11C>G
|
|
|
NM_001130438.3(SPTAN1):c.4905+19dup
|
rs763250092
|
|
NM_001130438.3(SPTAN1):c.4905+9C>G
|
|
|
NM_001130438.3(SPTAN1):c.4906-6C>G
|
|
|
NM_001130438.3(SPTAN1):c.4907C>T (p.Ala1636Val)
|
|
|
NM_001130438.3(SPTAN1):c.4910G>T (p.Arg1637Leu)
|
rs777707442
|
|
NM_001130438.3(SPTAN1):c.4918G>C (p.Ala1640Pro)
|
rs1554759970
|
|
NM_001130438.3(SPTAN1):c.4929C>T (p.Asp1643=)
|
rs1379977913
|
|
NM_001130438.3(SPTAN1):c.4936C>T (p.Gln1646Ter)
|
rs1856640613
|
|
NM_001130438.3(SPTAN1):c.4941C>A (p.Phe1647Leu)
|
|
|
NM_001130438.3(SPTAN1):c.4947G>A (p.Val1649=)
|
|
|
NM_001130438.3(SPTAN1):c.4956A>G (p.Ser1652=)
|
|
|
NM_001130438.3(SPTAN1):c.4958C>A (p.Ala1653Glu)
|
rs374723711
|
|
NM_001130438.3(SPTAN1):c.4958C>T (p.Ala1653Val)
|
rs374723711
|
|
NM_001130438.3(SPTAN1):c.4976T>C (p.Leu1659Pro)
|
rs1589327320
|
|
NM_001130438.3(SPTAN1):c.4995G>A (p.Gln1665=)
|
rs2131682537
|
|
NM_001130438.3(SPTAN1):c.5016C>T (p.Ile1672=)
|
|
|
NM_001130438.3(SPTAN1):c.5017A>G (p.Lys1673Glu)
|
rs2131682815
|
|
NM_001130438.3(SPTAN1):c.501C>T (p.Asp167=)
|
rs1851117702
|
|
NM_001130438.3(SPTAN1):c.5023T>A (p.Phe1675Ile)
|
rs1129924
|
|
NM_001130438.3(SPTAN1):c.5035C>T (p.Leu1679=)
|
|
|
NM_001130438.3(SPTAN1):c.5038T>G (p.Ser1680Ala)
|
rs1856647848
|
|
NM_001130438.3(SPTAN1):c.504+14A>C
|
|
|
NM_001130438.3(SPTAN1):c.5043+11G>A
|
|
|
NM_001130438.3(SPTAN1):c.5043+4A>C
|
rs745921302
|
|
NM_001130438.3(SPTAN1):c.5043+5C>A
|
|
|
NM_001130438.3(SPTAN1):c.5043+7C>T
|
|
|
NM_001130438.3(SPTAN1):c.5044-10del
|
|
|
NM_001130438.3(SPTAN1):c.5044-11_5044-10dup
|
|
|
NM_001130438.3(SPTAN1):c.5044-8A>G
|
|
|
NM_001130438.3(SPTAN1):c.5044G>A (p.Val1682Met)
|
rs2131703648
|
|
NM_001130438.3(SPTAN1):c.505-15A>G
|
|
|
NM_001130438.3(SPTAN1):c.505-16T>C
|
|
|
NM_001130438.3(SPTAN1):c.505-20C>T
|
rs779640676
|
|
NM_001130438.3(SPTAN1):c.505-4A>G
|
rs377129746
|
|
NM_001130438.3(SPTAN1):c.5058G>A (p.Leu1686=)
|
|
|
NM_001130438.3(SPTAN1):c.5076C>A (p.Gly1692=)
|
rs761438413
|
|
NM_001130438.3(SPTAN1):c.5083C>T (p.Leu1695=)
|
|
|
NM_001130438.3(SPTAN1):c.5090C>T (p.Ser1697Phe)
|
|
|
NM_001130438.3(SPTAN1):c.5091T>C (p.Ser1697=)
|
|
|
NM_001130438.3(SPTAN1):c.5114A>C (p.His1705Pro)
|
|
|
NM_001130438.3(SPTAN1):c.5119C>T (p.Leu1707=)
|
|
|
NM_001130438.3(SPTAN1):c.5128G>A (p.Ala1710Thr)
|
|
|
NM_001130438.3(SPTAN1):c.512T>C (p.Ile171Thr)
|
|
|
NM_001130438.3(SPTAN1):c.5135T>C (p.Ile1712Thr)
|
|
|
NM_001130438.3(SPTAN1):c.5136A>T (p.Ile1712=)
|
rs1426233215
|
|
NM_001130438.3(SPTAN1):c.513T>C (p.Ile171=)
|
rs777942959
|
|
NM_001130438.3(SPTAN1):c.5140G>A (p.Ala1714Thr)
|
rs1856789445
|
|
NM_001130438.3(SPTAN1):c.5140G>T (p.Ala1714Ser)
|
|
|
NM_001130438.3(SPTAN1):c.5145T>C (p.His1715=)
|
rs1392565711
|
|
NM_001130438.3(SPTAN1):c.5148+12G>C
|
|
|
NM_001130438.3(SPTAN1):c.5148+14G>A
|
|
|
NM_001130438.3(SPTAN1):c.5148+16C>A
|
rs765477570
|
|
NM_001130438.3(SPTAN1):c.5148+18G>A
|
|
|
NM_001130438.3(SPTAN1):c.5149-14G>A
|
|
|
NM_001130438.3(SPTAN1):c.5149-3dup
|
rs2131743536
|
|
NM_001130438.3(SPTAN1):c.5149-6C>A
|
|
|
NM_001130438.3(SPTAN1):c.5149-8del
|
|
|
NM_001130438.3(SPTAN1):c.5158A>G (p.Lys1720Glu)
|
rs2131743765
|
|
NM_001130438.3(SPTAN1):c.5163C>G (p.Asp1721Glu)
|
|
|
NM_001130438.3(SPTAN1):c.5190G>T (p.Met1730Ile)
|
|
|
NM_001130438.3(SPTAN1):c.5194A>T (p.Ser1732Cys)
|
rs2131744077
|
|
NM_001130438.3(SPTAN1):c.5195G>T (p.Ser1732Ile)
|
rs751640888
|
|
NM_001130438.3(SPTAN1):c.5202C>T (p.Ala1734=)
|
rs2131744231
|
|
NM_001130438.3(SPTAN1):c.5206G>A (p.Asp1736Asn)
|
rs148294757
|
|
NM_001130438.3(SPTAN1):c.5210C>T (p.Thr1737Ile)
|
|
|
NM_001130438.3(SPTAN1):c.5213C>G (p.Ser1738Cys)
|
rs2131744493
|
|
NM_001130438.3(SPTAN1):c.5222A>G (p.Lys1741Arg)
|
rs1857080869
|
|
NM_001130438.3(SPTAN1):c.5234A>G (p.Asp1745Gly)
|
|
|
NM_001130438.3(SPTAN1):c.5249G>A (p.Arg1750His)
|
|
|
NM_001130438.3(SPTAN1):c.5264A>G (p.Lys1755Arg)
|
rs1857087403
|
|
NM_001130438.3(SPTAN1):c.5273C>T (p.Ala1758Val)
|
|
|
NM_001130438.3(SPTAN1):c.5282G>T (p.Arg1761Leu)
|
rs755046868
|
|
NM_001130438.3(SPTAN1):c.5285G>A (p.Arg1762Gln)
|
|
|
NM_001130438.3(SPTAN1):c.5293C>A (p.Leu1765Met)
|
rs2131745997
|
|
NM_001130438.3(SPTAN1):c.5304C>T (p.Ser1768=)
|
rs1057524335
|
|
NM_001130438.3(SPTAN1):c.5310C>T (p.Arg1770=)
|
|
|
NM_001130438.3(SPTAN1):c.5325C>T (p.Phe1775=)
|
|
|
NM_001130438.3(SPTAN1):c.5326C>T (p.Arg1776Trp)
|
rs1232614751
|
|
NM_001130438.3(SPTAN1):c.5327G>A (p.Arg1776Gln)
|
rs754299854
|
|
NM_001130438.3(SPTAN1):c.5333T>C (p.Met1778Thr)
|
|
|
NM_001130438.3(SPTAN1):c.5334G>T (p.Met1778Ile)
|
|
|
NM_001130438.3(SPTAN1):c.5337T>C (p.Asp1779=)
|
|
|
NM_001130438.3(SPTAN1):c.533G>A (p.Gly178Asp)
|
rs2130975930
|
|
NM_001130438.3(SPTAN1):c.5341G>A (p.Glu1781Lys)
|
rs368949860
|
|
NM_001130438.3(SPTAN1):c.5358-12TC[2]
|
rs769628464
|
|
NM_001130438.3(SPTAN1):c.5358-14C>T
|
rs2131789214
|
|
NM_001130438.3(SPTAN1):c.5358-15C>T
|
|
|
NM_001130438.3(SPTAN1):c.5358-16C>G
|
rs143969764
|
|
NM_001130438.3(SPTAN1):c.5358-20G>A
|
rs767012741
|
|
NM_001130438.3(SPTAN1):c.535C>A (p.Gln179Lys)
|
rs1589179268
|
|
NM_001130438.3(SPTAN1):c.5373G>T (p.Leu1791=)
|
|
|
NM_001130438.3(SPTAN1):c.5382A>C (p.Ser1794=)
|
rs1359210582
|
|
NM_001130438.3(SPTAN1):c.5391C>G (p.Tyr1797Ter)
|
rs146418243
|
|
NM_001130438.3(SPTAN1):c.5392G>T (p.Gly1798Cys)
|
rs756006714
|
|
NM_001130438.3(SPTAN1):c.5410G>A (p.Val1804Met)
|
|
|
NM_001130438.3(SPTAN1):c.5423G>A (p.Arg1808Lys)
|
rs2131791086
|
|
NM_001130438.3(SPTAN1):c.5425A>T (p.Lys1809Ter)
|
|
|
NM_001130438.3(SPTAN1):c.5431C>T (p.His1811Tyr)
|
|
|
NM_001130438.3(SPTAN1):c.5433C>T (p.His1811=)
|
rs772382171
|
|
NM_001130438.3(SPTAN1):c.5437C>T (p.Arg1813Trp)
|
rs3750333
|
|
NM_001130438.3(SPTAN1):c.5453T>A (p.Leu1818Gln)
|
|
|
NM_001130438.3(SPTAN1):c.5463T>C (p.His1821=)
|
|
|
NM_001130438.3(SPTAN1):c.5470G>A (p.Ala1824Thr)
|
rs796053320
|
|
NM_001130438.3(SPTAN1):c.5473A>G (p.Ile1825Val)
|
|
|
NM_001130438.3(SPTAN1):c.5478+11C>T
|
|
|
NM_001130438.3(SPTAN1):c.5478+20G>A
|
|
|
NM_001130438.3(SPTAN1):c.5479-16C>T
|
|
|
NM_001130438.3(SPTAN1):c.5479-3C>T
|
rs1464939078
|
|
NM_001130438.3(SPTAN1):c.5479-5G>A
|
rs1554763238
|
|
NM_001130438.3(SPTAN1):c.5482G>A (p.Val1828Ile)
|
|
|
NM_001130438.3(SPTAN1):c.5483T>C (p.Val1828Ala)
|
|
|
NM_001130438.3(SPTAN1):c.548A>G (p.His183Arg)
|
|
|
NM_001130438.3(SPTAN1):c.5496C>G (p.Gly1832=)
|
rs1352540009
|
|
NM_001130438.3(SPTAN1):c.549T>C (p.His183=)
|
rs1589179284
|
|
NM_001130438.3(SPTAN1):c.5500A>G (p.Lys1834Glu)
|
rs2131798457
|
|
NM_001130438.3(SPTAN1):c.5509G>A (p.Asp1837Asn)
|
|
|
NM_001130438.3(SPTAN1):c.5527A>G (p.Lys1843Glu)
|
rs2131799096
|
|
NM_001130438.3(SPTAN1):c.5529A>G (p.Lys1843=)
|
rs776079416
|
|
NM_001130438.3(SPTAN1):c.5530G>C (p.Glu1844Gln)
|
|
|
NM_001130438.3(SPTAN1):c.5531_5532del (p.Glu1844fs)
|
|
|
NM_001130438.3(SPTAN1):c.5560G>T (p.Val1854Leu)
|
rs752677999
|
|
NM_001130438.3(SPTAN1):c.5567_5568del (p.His1856fs)
|
|
|
NM_001130438.3(SPTAN1):c.5568C>T (p.His1856=)
|
rs1857396464
|
|
NM_001130438.3(SPTAN1):c.5576A>C (p.Glu1859Ala)
|
|
|
NM_001130438.3(SPTAN1):c.5576A>G (p.Glu1859Gly)
|
rs2131800107
|
|
NM_001130438.3(SPTAN1):c.5592A>C (p.Ala1864=)
|
rs1857398448
|
|
NM_001130438.3(SPTAN1):c.5592A>G (p.Ala1864=)
|
|
|
NM_001130438.3(SPTAN1):c.5594C>A (p.Ala1865Asp)
|
rs1589354582
|
|
NM_001130438.3(SPTAN1):c.55C>T (p.Arg19Trp)
|
rs748232676
|
|
NM_001130438.3(SPTAN1):c.5600+15G>T
|
rs2131800720
|
|
NM_001130438.3(SPTAN1):c.5601-16T>C
|
|
|
NM_001130438.3(SPTAN1):c.5601-20T>C
|
|
|
NM_001130438.3(SPTAN1):c.5602G>T (p.Gly1868Cys)
|
rs2131816719
|
|
NM_001130438.3(SPTAN1):c.5608C>T (p.Arg1870Trp)
|
rs1423165476
|
|
NM_001130438.3(SPTAN1):c.5609G>A (p.Arg1870Gln)
|
rs1857510980
|
|
NM_001130438.3(SPTAN1):c.5619G>A (p.Glu1873=)
|
|
|
NM_001130438.3(SPTAN1):c.5628A>G (p.Glu1876=)
|
rs1589358990
|
|
NM_001130438.3(SPTAN1):c.5649T>C (p.Asn1883=)
|
rs1057522205
|
|
NM_001130438.3(SPTAN1):c.5658G>A (p.Glu1886=)
|
|
|
NM_001130438.3(SPTAN1):c.5674A>C (p.Asn1892His)
|
|
|
NM_001130438.3(SPTAN1):c.5676T>C (p.Asn1892=)
|
rs2131817623
|
|
NM_001130438.3(SPTAN1):c.5679G>T (p.Glu1893Asp)
|
rs1857518094
|
|
NM_001130438.3(SPTAN1):c.5694G>A (p.Val1898=)
|
rs867428978
|
|
NM_001130438.3(SPTAN1):c.56G>A (p.Arg19Gln)
|
|
|
NM_001130438.3(SPTAN1):c.5701G>A (p.Glu1901Lys)
|
|
|
NM_001130438.3(SPTAN1):c.5702A>G (p.Glu1901Gly)
|
rs2131818051
|
|
NM_001130438.3(SPTAN1):c.5706T>C (p.Asp1902=)
|
rs2131818082
|
|
NM_001130438.3(SPTAN1):c.570A>G (p.Lys190=)
|
|
|
NM_001130438.3(SPTAN1):c.5717C>G (p.Thr1906Ser)
|
|
|
NM_001130438.3(SPTAN1):c.5724C>A (p.Ala1908=)
|
rs886063507
|
|
NM_001130438.3(SPTAN1):c.5725G>A (p.Ala1909Thr)
|
|
|
NM_001130438.3(SPTAN1):c.5733+18G>A
|
|
|
NM_001130438.3(SPTAN1):c.5733+3G>A
|
|
|
NM_001130438.3(SPTAN1):c.5734-4C>G
|
rs2131850841
|
|
NM_001130438.3(SPTAN1):c.5734-9C>G
|
rs779869876
|
|
NM_001130438.3(SPTAN1):c.5734-9C>T
|
|
|
NM_001130438.3(SPTAN1):c.5748A>G (p.Lys1916=)
|
|
|
NM_001130438.3(SPTAN1):c.5763G>T (p.Glu1921Asp)
|
|
|
NM_001130438.3(SPTAN1):c.5788C>T (p.Arg1930Cys)
|
rs267602137
|
|
NM_001130438.3(SPTAN1):c.5789G>A (p.Arg1930His)
|
rs771921943
|
|
NM_001130438.3(SPTAN1):c.5804G>A (p.Cys1935Tyr)
|
|
|
NM_001130438.3(SPTAN1):c.5814A>G (p.Gly1938=)
|
|
|
NM_001130438.3(SPTAN1):c.5818G>C (p.Asp1940His)
|
|
|
NM_001130438.3(SPTAN1):c.5818G>T (p.Asp1940Tyr)
|
|
|
NM_001130438.3(SPTAN1):c.5823C>T (p.Leu1941=)
|
|
|
NM_001130438.3(SPTAN1):c.5832+15T>C
|
|
|
NM_001130438.3(SPTAN1):c.5832+3G>A
|
rs1368511172
|
|
NM_001130438.3(SPTAN1):c.5832+8C>T
|
|
|
NM_001130438.3(SPTAN1):c.5833-11C>G
|
|
|
NM_001130438.3(SPTAN1):c.5833-15C>G
|
|
|
NM_001130438.3(SPTAN1):c.5833-17C>T
|
|
|
NM_001130438.3(SPTAN1):c.5833-19G>T
|
|
|
NM_001130438.3(SPTAN1):c.5833-4C>T
|
|
|
NM_001130438.3(SPTAN1):c.5833-6G>A
|
|
|
NM_001130438.3(SPTAN1):c.5833-9A>G
|
|
|
NM_001130438.3(SPTAN1):c.5836A>T (p.Asn1946Tyr)
|
rs1858409467
|
|
NM_001130438.3(SPTAN1):c.5841C>G (p.His1947Gln)
|
rs1564311308
|
|
NM_001130438.3(SPTAN1):c.5867T>A (p.Met1956Lys)
|
|
|
NM_001130438.3(SPTAN1):c.5867T>C (p.Met1956Thr)
|
rs878854246
|
|
NM_001130438.3(SPTAN1):c.5883G>A (p.Gly1961=)
|
rs1367701362
|
|
NM_001130438.3(SPTAN1):c.588A>C (p.Thr196=)
|
rs776782747
|
|
NM_001130438.3(SPTAN1):c.5891C>T (p.Ser1964Leu)
|
|
|
NM_001130438.3(SPTAN1):c.5895C>T (p.Asp1965=)
|
rs1471583021
|
|
NM_001130438.3(SPTAN1):c.5898G>C (p.Leu1966=)
|
|
|
NM_001130438.3(SPTAN1):c.5899G>C (p.Glu1967Gln)
|
rs1858419335
|
|
NM_001130438.3(SPTAN1):c.58dup (p.Gln20fs)
|
|
|
NM_001130438.3(SPTAN1):c.5904A>G (p.Lys1968=)
|
rs778709187
|
|
NM_001130438.3(SPTAN1):c.5915A>G (p.Gln1972Arg)
|
|
|
NM_001130438.3(SPTAN1):c.591T>C (p.Asp197=)
|
rs2130976410
|
|
NM_001130438.3(SPTAN1):c.5921A>G (p.Lys1974Arg)
|
rs1858423393
|
|
NM_001130438.3(SPTAN1):c.5924C>G (p.Ala1975Gly)
|
rs772780483
|
|
NM_001130438.3(SPTAN1):c.5924C>T (p.Ala1975Val)
|
rs772780483
|
|
NM_001130438.3(SPTAN1):c.5928G>A (p.Lys1976=)
|
|
|
NM_001130438.3(SPTAN1):c.592A>G (p.Met198Val)
|
|
|
NM_001130438.3(SPTAN1):c.593T>A (p.Met198Lys)
|
rs924110992
|
|
NM_001130438.3(SPTAN1):c.5944G>T (p.Ala1982Ser)
|
rs2131923594
|
|
NM_001130438.3(SPTAN1):c.5948T>G (p.Phe1983Cys)
|
|
|
NM_001130438.3(SPTAN1):c.5950C>A (p.Leu1984Ile)
|
rs1440498629
|
|
NM_001130438.3(SPTAN1):c.5960A>C (p.Asn1987Thr)
|
rs768166158
|
|
NM_001130438.3(SPTAN1):c.5960A>T (p.Asn1987Ile)
|
rs768166158
|
|
NM_001130438.3(SPTAN1):c.5966A>G (p.Lys1989Arg)
|
|
|
NM_001130438.3(SPTAN1):c.5970G>A (p.Ala1990=)
|
|
|
NM_001130438.3(SPTAN1):c.5981A>G (p.Glu1994Gly)
|
rs11543346
|
|
NM_001130438.3(SPTAN1):c.5984C>T (p.Ser1995Phe)
|
|
|
NM_001130438.3(SPTAN1):c.5991C>T (p.Ile1997=)
|
|
|
NM_001130438.3(SPTAN1):c.5993-10C>G
|
rs773841663
|
|
NM_001130438.3(SPTAN1):c.5993-10del
|
|
|
NM_001130438.3(SPTAN1):c.5993-12T>C
|
|
|
NM_001130438.3(SPTAN1):c.5993-5T>C
|
|
|
NM_001130438.3(SPTAN1):c.6016A>T (p.Thr2006Ser)
|
|
|
NM_001130438.3(SPTAN1):c.6019_6020del (p.Thr2006_Asp2007insTer)
|
|
|
NM_001130438.3(SPTAN1):c.6030C>T (p.Gly2010=)
|
|
|
NM_001130438.3(SPTAN1):c.6048G>A (p.Val2016=)
|
rs557306645
|
|
NM_001130438.3(SPTAN1):c.6066A>G (p.Lys2022=)
|
|
|
NM_001130438.3(SPTAN1):c.6067C>G (p.Gln2023Glu)
|
|
|
NM_001130438.3(SPTAN1):c.6069+10G>A
|
|
|
NM_001130438.3(SPTAN1):c.6069+15C>T
|
|
|
NM_001130438.3(SPTAN1):c.6069+7C>T
|
rs1554766358
|
|
NM_001130438.3(SPTAN1):c.6070-12C>T
|
rs771489152
|
|
NM_001130438.3(SPTAN1):c.6070-17T>C
|
|
|
NM_001130438.3(SPTAN1):c.6070-3C>G
|
rs1858641214
|
|
NM_001130438.3(SPTAN1):c.6070-6G>A
|
rs1858640761
|
|
NM_001130438.3(SPTAN1):c.6075T>C (p.Thr2025=)
|
|
|
NM_001130438.3(SPTAN1):c.6077T>C (p.Phe2026Ser)
|
rs1485892769
|
|
NM_001130438.3(SPTAN1):c.6084T>C (p.Ala2028=)
|
|
|
NM_001130438.3(SPTAN1):c.6088C>T (p.Leu2030=)
|
|
|
NM_001130438.3(SPTAN1):c.6093G>T (p.Gln2031His)
|
|
|
NM_001130438.3(SPTAN1):c.6100C>T (p.Gln2034Ter)
|
rs2131952314
|
|
NM_001130438.3(SPTAN1):c.6103C>A (p.Gln2035Lys)
|
rs145129059
|
|
NM_001130438.3(SPTAN1):c.6103C>G (p.Gln2035Glu)
|
|
|
NM_001130438.3(SPTAN1):c.6114T>G (p.Ile2038Met)
|
|
|
NM_001130438.3(SPTAN1):c.6120C>T (p.Asn2040=)
|
rs2131952739
|
|
NM_001130438.3(SPTAN1):c.6138T>C (p.Asp2046=)
|
|
|
NM_001130438.3(SPTAN1):c.6155A>G (p.Lys2052Arg)
|
rs2131953509
|
|
NM_001130438.3(SPTAN1):c.615T>G (p.Val205=)
|
|
|
NM_001130438.3(SPTAN1):c.6165G>T (p.Gln2055His)
|
rs2131953698
|
|
NM_001130438.3(SPTAN1):c.6169A>G (p.Lys2057Glu)
|
|
|
NM_001130438.3(SPTAN1):c.6175A>G (p.Ile2059Val)
|
|
|
NM_001130438.3(SPTAN1):c.6177C>T (p.Ile2059=)
|
|
|
NM_001130438.3(SPTAN1):c.617A>T (p.Asn206Ile)
|
rs752726486
|
|
NM_001130438.3(SPTAN1):c.6184C>T (p.Arg2062Trp)
|
rs2131953982
|
|
NM_001130438.3(SPTAN1):c.6187C>T (p.His2063Tyr)
|
|
|
NM_001130438.3(SPTAN1):c.6189C>T (p.His2063=)
|
rs367629442
|
|
NM_001130438.3(SPTAN1):c.6191C>T (p.Ala2064Val)
|
|
|
NM_001130438.3(SPTAN1):c.6192C>G (p.Ala2064=)
|
|
|
NM_001130438.3(SPTAN1):c.6198C>T (p.Leu2066=)
|
rs138305416
|
|
NM_001130438.3(SPTAN1):c.6199A>G (p.Met2067Val)
|
|
|
NM_001130438.3(SPTAN1):c.6201G>T (p.Met2067Ile)
|
rs2131954418
|
|
NM_001130438.3(SPTAN1):c.6206G>A (p.Arg2069Lys)
|
|
|
NM_001130438.3(SPTAN1):c.6220C>T (p.Leu2074=)
|
|
|
NM_001130438.3(SPTAN1):c.6223G>A (p.Ala2075Thr)
|
|
|
NM_001130438.3(SPTAN1):c.6225C>T (p.Ala2075=)
|
rs2131954813
|
|
NM_001130438.3(SPTAN1):c.6226A>G (p.Asn2076Asp)
|
rs1251099177
|
|
NM_001130438.3(SPTAN1):c.6230C>T (p.Ser2077Leu)
|
|
|
NM_001130438.3(SPTAN1):c.6238C>G (p.Arg2080Gly)
|
|
|
NM_001130438.3(SPTAN1):c.6238C>T (p.Arg2080Cys)
|
rs1564315398
|
|
NM_001130438.3(SPTAN1):c.6241AAG[2] (p.Lys2083del)
|
rs1858669268
|
|
NM_001130438.3(SPTAN1):c.6253C>A (p.Leu2085Met)
|
|
|
NM_001130438.3(SPTAN1):c.6254T>C (p.Leu2085Pro)
|
rs1564315528
|
|
NM_001130438.3(SPTAN1):c.6258G>A (p.Glu2086=)
|
|
|
NM_001130438.3(SPTAN1):c.6260C>G (p.Ala2087Gly)
|
|
|
NM_001130438.3(SPTAN1):c.6262C>G (p.Gln2088Glu)
|
|
|
NM_001130438.3(SPTAN1):c.6275G>T (p.Arg2092Leu)
|
|
|
NM_001130438.3(SPTAN1):c.6279+12G>A
|
|
|
NM_001130438.3(SPTAN1):c.6279+16C>T
|
rs555451095
|
|
NM_001130438.3(SPTAN1):c.6279+17G>A
|
rs1233546957
|
|
NM_001130438.3(SPTAN1):c.6279+17G>C
|
|
|
NM_001130438.3(SPTAN1):c.6279+17G>T
|
|
|
NM_001130438.3(SPTAN1):c.6279+3G>A
|
|
|
NM_001130438.3(SPTAN1):c.6279+4A>G
|
|
|
NM_001130438.3(SPTAN1):c.627C>T (p.Asn209=)
|
|
|
NM_001130438.3(SPTAN1):c.6282G>A (p.Val2094=)
|
rs1554766786
|
|
NM_001130438.3(SPTAN1):c.6286G>A (p.Asp2096Asn)
|
|
|
NM_001130438.3(SPTAN1):c.6294C>T (p.Phe2098=)
|
|
|
NM_001130438.3(SPTAN1):c.6304G>A (p.Ala2102Thr)
|
|
|
NM_001130438.3(SPTAN1):c.630G>T (p.Gln210His)
|
rs1851179826
|
|
NM_001130438.3(SPTAN1):c.6327C>T (p.Asn2109=)
|
rs1432749648
|
|
NM_001130438.3(SPTAN1):c.6338A>T (p.Glu2113Val)
|
rs2131965427
|
|
NM_001130438.3(SPTAN1):c.6345A>G (p.Ala2115=)
|
rs1858761394
|
|
NM_001130438.3(SPTAN1):c.6347A>C (p.Glu2116Ala)
|
rs2131965544
|
|
NM_001130438.3(SPTAN1):c.6366C>T (p.Pro2122=)
|
rs775566979
|
|
NM_001130438.3(SPTAN1):c.6370C>T (p.Arg2124Cys)
|
rs1193718145
|
|
NM_001130438.3(SPTAN1):c.6376A>G (p.Asn2126Asp)
|
|
|
NM_001130438.3(SPTAN1):c.6389A>T (p.Glu2130Val)
|
rs1858765679
|
|
NM_001130438.3(SPTAN1):c.6403C>A (p.Arg2135Ser)
|
|
|
NM_001130438.3(SPTAN1):c.6403C>T (p.Arg2135Cys)
|
rs751337586
|
|
NM_001130438.3(SPTAN1):c.6406G>A (p.Glu2136Lys)
|
|
|
NM_001130438.3(SPTAN1):c.6406G>C (p.Glu2136Gln)
|
rs755273355
|
|
NM_001130438.3(SPTAN1):c.6416A>G (p.Asp2139Gly)
|
|
|
NM_001130438.3(SPTAN1):c.6418G>A (p.Ala2140Thr)
|
|
|
NM_001130438.3(SPTAN1):c.6425G>C (p.Arg2142Pro)
|
|
|
NM_001130438.3(SPTAN1):c.6427T>C (p.Ser2143Pro)
|
|
|
NM_001130438.3(SPTAN1):c.6427T>G (p.Ser2143Ala)
|
rs1356195027
|
|
NM_001130438.3(SPTAN1):c.6428C>T (p.Ser2143Phe)
|
|
|
NM_001130438.3(SPTAN1):c.6446A>G (p.Gln2149Arg)
|
|
|
NM_001130438.3(SPTAN1):c.6447G>A (p.Gln2149=)
|
|
|
NM_001130438.3(SPTAN1):c.6465G>C (p.Leu2155=)
|
|
|
NM_001130438.3(SPTAN1):c.6468C>G (p.Ala2156=)
|
|
|
NM_001130438.3(SPTAN1):c.6469G>A (p.Glu2157Lys)
|
|
|
NM_001130438.3(SPTAN1):c.6470A>G (p.Glu2157Gly)
|
rs985288328
|
|
NM_001130438.3(SPTAN1):c.6478C>T (p.Arg2160Cys)
|
rs780696613
|
|
NM_001130438.3(SPTAN1):c.6482A>G (p.Gln2161Arg)
|
rs1858781937
|
|
NM_001130438.3(SPTAN1):c.6491G>A (p.Ser2164Asn)
|
|
|
NM_001130438.3(SPTAN1):c.6491G>C (p.Ser2164Thr)
|
|
|
NM_001130438.3(SPTAN1):c.6494T>C (p.Phe2165Ser)
|
rs1589389281
|
|
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.6501A>G (p.Val2167=)
|
rs867703193
|
|
NM_001130438.3(SPTAN1):c.6507C>G (p.Ser2169=)
|
|
|
NM_001130438.3(SPTAN1):c.6507C>T (p.Ser2169=)
|
|
|
NM_001130438.3(SPTAN1):c.651+11A>G
|
|
|
NM_001130438.3(SPTAN1):c.651+16C>T
|
|
|
NM_001130438.3(SPTAN1):c.651+18G>A
|
rs1419393335
|
|
NM_001130438.3(SPTAN1):c.651+20A>G
|
|
|
NM_001130438.3(SPTAN1):c.6514T>C (p.Tyr2172His)
|
|
|
NM_001130438.3(SPTAN1):c.6516C>T (p.Tyr2172=)
|
|
|
NM_001130438.3(SPTAN1):c.652-9C>A
|
|
|
NM_001130438.3(SPTAN1):c.6524T>A (p.Phe2175Tyr)
|
|
|
NM_001130438.3(SPTAN1):c.6528C>A (p.Thr2176=)
|
|
|
NM_001130438.3(SPTAN1):c.6538C>A (p.Leu2180Met)
|
|
|
NM_001130438.3(SPTAN1):c.6542A>C (p.Glu2181Ala)
|
rs760925342
|
|
NM_001130438.3(SPTAN1):c.654G>A (p.Glu218=)
|
|
|
NM_001130438.3(SPTAN1):c.654G>T (p.Glu218Asp)
|
|
|
NM_001130438.3(SPTAN1):c.6553A>G (p.Arg2185Gly)
|
rs2131968714
|
|
NM_001130438.3(SPTAN1):c.6557A>G (p.Asn2186Ser)
|
|
|
NM_001130438.3(SPTAN1):c.655C>T (p.Gln219Ter)
|
rs1851359356
|
|
NM_001130438.3(SPTAN1):c.6561A>T (p.Leu2187=)
|
rs1482545101
|
|
NM_001130438.3(SPTAN1):c.6568A>G (p.Ile2190Val)
|
|
|
NM_001130438.3(SPTAN1):c.656A>G (p.Gln219Arg)
|
rs1851359623
|
|
NM_001130438.3(SPTAN1):c.6576+16C>A
|
rs745494941
|
|
NM_001130438.3(SPTAN1):c.6576+16C>T
|
|
|
NM_001130438.3(SPTAN1):c.6576+18C>T
|
|
|
NM_001130438.3(SPTAN1):c.6576+4C>T
|
|
|
NM_001130438.3(SPTAN1):c.6576+7C>G
|
rs765667007
|
|
NM_001130438.3(SPTAN1):c.6576G>A (p.Lys2192=)
|
|
|
NM_001130438.3(SPTAN1):c.6577-13del
|
|
|
NM_001130438.3(SPTAN1):c.6577-13dup
|
rs761170802
|
|
NM_001130438.3(SPTAN1):c.6577-14C>A
|
rs540922784
|
|
NM_001130438.3(SPTAN1):c.6577-14C>G
|
rs540922784
|
|
NM_001130438.3(SPTAN1):c.6577-17C>T
|
|
|
NM_001130438.3(SPTAN1):c.6577-6C>T
|
|
|
NM_001130438.3(SPTAN1):c.6577-9G>C
|
|
|
NM_001130438.3(SPTAN1):c.6592_6597dup (p.Leu2198_Gln2199dup)
|
rs1589393179
|
|
NM_001130438.3(SPTAN1):c.6605_6607del (p.Gln2202del)
|
rs398122865
|
|
NM_001130438.3(SPTAN1):c.6607C>A (p.Arg2203=)
|
rs759842941
|
|
NM_001130438.3(SPTAN1):c.6607C>T (p.Arg2203Trp)
|
rs759842941
|
|
NM_001130438.3(SPTAN1):c.6609G>A (p.Arg2203=)
|
rs1300415391
|
|
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.6622A>C (p.Asn2208His)
|
|
|
NM_001130438.3(SPTAN1):c.6622_6624del (p.Asn2208del)
|
rs2131985621
|
|
NM_001130438.3(SPTAN1):c.6624C>T (p.Asn2208=)
|
|
|
NM_001130438.3(SPTAN1):c.662C>G (p.Pro221Arg)
|
|
|
NM_001130438.3(SPTAN1):c.6634C>T (p.Arg2212Cys)
|
rs1589393382
|
|
NM_001130438.3(SPTAN1):c.6661G>A (p.Ala2221Thr)
|
rs1858943245
|
|
NM_001130438.3(SPTAN1):c.6673T>A (p.Trp2225Arg)
|
|
|
NM_001130438.3(SPTAN1):c.6689+11G>A
|
|
|
NM_001130438.3(SPTAN1):c.6690-14T>C
|
rs2131994892
|
|
NM_001130438.3(SPTAN1):c.6690-17G>A
|
rs1554767335
|
|
NM_001130438.3(SPTAN1):c.6690-4A>G
|
rs1465836894
|
|
NM_001130438.3(SPTAN1):c.6690-7T>G
|
rs868686679
|
|
NM_001130438.3(SPTAN1):c.6691A>G (p.Thr2231Ala)
|
|
|
NM_001130438.3(SPTAN1):c.6693A>C (p.Thr2231=)
|
|
|
NM_001130438.3(SPTAN1):c.6707+10G>T
|
|
|
NM_001130438.3(SPTAN1):c.6707+12T>C
|
|
|
NM_001130438.3(SPTAN1):c.6707+5A>G
|
|
|
NM_001130438.3(SPTAN1):c.6707+9T>C
|
rs2131995556
|
|
NM_001130438.3(SPTAN1):c.6708-11T>C
|
|
|
NM_001130438.3(SPTAN1):c.6708-13C>A
|
|
|
NM_001130438.3(SPTAN1):c.6708-13C>T
|
|
|
NM_001130438.3(SPTAN1):c.6708-19A>G
|
rs771695175
|
|
NM_001130438.3(SPTAN1):c.6744C>T (p.Ser2248=)
|
rs1173450745
|
|
NM_001130438.3(SPTAN1):c.6754G>T (p.Ala2252Ser)
|
rs1859501262
|
|
NM_001130438.3(SPTAN1):c.6756T>G (p.Ala2252=)
|
|
|
NM_001130438.3(SPTAN1):c.6760A>G (p.Lys2254Glu)
|
|
|
NM_001130438.3(SPTAN1):c.6762+10C>A
|
rs367706466
|
|
NM_001130438.3(SPTAN1):c.6762+16G>A
|
|
|
NM_001130438.3(SPTAN1):c.6762+16_6762+22del
|
|
|
NM_001130438.3(SPTAN1):c.6762+3A>G
|
|
|
NM_001130438.3(SPTAN1):c.6762+3_6762+6del
|
rs1554768212
|
|
NM_001130438.3(SPTAN1):c.6762+8C>G
|
rs2132047025
|
|
NM_001130438.3(SPTAN1):c.6763-10A>G
|
|
|
NM_001130438.3(SPTAN1):c.6763-11C>A
|
rs1356782148
|
|
NM_001130438.3(SPTAN1):c.6763-11del
|
rs1242521066
|
|
NM_001130438.3(SPTAN1):c.6763-16C>T
|
|
|
NM_001130438.3(SPTAN1):c.6763-4G>C
|
|
|
NM_001130438.3(SPTAN1):c.6763-6C>A
|
rs543227930
|
|
NM_001130438.3(SPTAN1):c.6763-6C>G
|
rs543227930
|
|
NM_001130438.3(SPTAN1):c.6763-6del
|
|
|
NM_001130438.3(SPTAN1):c.6777A>C (p.Glu2259Asp)
|
rs1859855635
|
|
NM_001130438.3(SPTAN1):c.6778A>G (p.Ile2260Val)
|
|
|
NM_001130438.3(SPTAN1):c.677T>G (p.Ile226Ser)
|
|
|
NM_001130438.3(SPTAN1):c.6781C>T (p.Arg2261Ter)
|
rs1859856446
|
|
NM_001130438.3(SPTAN1):c.6782G>A (p.Arg2261Gln)
|
rs1859856842
|
|
NM_001130438.3(SPTAN1):c.6806A>G (p.Lys2269Arg)
|
rs1859859210
|
|
NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys)
|
rs1859859572
|
|
NM_001130438.3(SPTAN1):c.6816C>A (p.Asp2272Glu)
|
|
|
NM_001130438.3(SPTAN1):c.6826G>T (p.Ala2276Ser)
|
rs375244907
|
|
NM_001130438.3(SPTAN1):c.682A>G (p.Thr228Ala)
|
|
|
NM_001130438.3(SPTAN1):c.6841C>A (p.Leu2281Ile)
|
rs1341044436
|
|
NM_001130438.3(SPTAN1):c.6843_6848del (p.Ile2282_Leu2283del)
|
rs1589416130
|
|
NM_001130438.3(SPTAN1):c.6850_6852del (p.Asp2284del)
|
rs2132088836
|
|
NM_001130438.3(SPTAN1):c.6854A>G (p.Asn2285Ser)
|
rs1441152520
|
|
NM_001130438.3(SPTAN1):c.6863C>T (p.Thr2288Met)
|
rs2132089093
|
|
NM_001130438.3(SPTAN1):c.6867G>A (p.Glu2289=)
|
|
|
NM_001130438.3(SPTAN1):c.6873C>T (p.Ser2291=)
|
|
|
NM_001130438.3(SPTAN1):c.6877G>A (p.Val2293Met)
|
|
|
NM_001130438.3(SPTAN1):c.6882C>G (p.Gly2294=)
|
|
|
NM_001130438.3(SPTAN1):c.6882C>T (p.Gly2294=)
|
rs1859868464
|
|
NM_001130438.3(SPTAN1):c.6886G>A (p.Ala2296Thr)
|
rs2132089475
|
|
NM_001130438.3(SPTAN1):c.6888C>T (p.Ala2296=)
|
|
|
NM_001130438.3(SPTAN1):c.6892C>G (p.Gln2298Glu)
|
|
|
NM_001130438.3(SPTAN1):c.6896_6904del (p.Trp2299_Gln2301del)
|
|
|
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.6902A>T (p.Gln2301Leu)
|
rs1859871133
|
|
NM_001130438.3(SPTAN1):c.6903G>A (p.Gln2301=)
|
|
|
NM_001130438.3(SPTAN1):c.6905_6946dup (p.Leu2302_Gln2315dup)
|
rs2132089818
|
|
NM_001130438.3(SPTAN1):c.6910_6918del (p.Gln2304_Gly2306del)
|
rs796053334
|
|
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup)
|
rs796053335
|
|
NM_001130438.3(SPTAN1):c.6922C>T (p.Arg2308Cys)
|
rs1554768992
|
|
NM_001130438.3(SPTAN1):c.6924_6929dup (p.Met2309_Gln2310insHisMet)
|
|
|
NM_001130438.3(SPTAN1):c.692A>G (p.Asp231Gly)
|
rs2131005873
|
|
NM_001130438.3(SPTAN1):c.6937dup (p.Leu2313fs)
|
|
|
NM_001130438.3(SPTAN1):c.6943C>G (p.Gln2315Glu)
|
rs1554769022
|
|
NM_001130438.3(SPTAN1):c.6948G>A (p.Gln2316=)
|
|
|
NM_001130438.3(SPTAN1):c.694G>A (p.Glu232Lys)
|
|
|
NM_001130438.3(SPTAN1):c.6956C>A (p.Ala2319Asp)
|
rs2132090668
|
|
NM_001130438.3(SPTAN1):c.6959+11G>A
|
rs2132091181
|
|
NM_001130438.3(SPTAN1):c.6959+12G>A
|
|
|
NM_001130438.3(SPTAN1):c.6959+16G>A
|
|
|
NM_001130438.3(SPTAN1):c.6959+17T>C
|
|
|
NM_001130438.3(SPTAN1):c.6959+18G>C
|
|
|
NM_001130438.3(SPTAN1):c.6959+1G>T
|
|
|
NM_001130438.3(SPTAN1):c.6959+5C>T
|
rs1057523269
|
|
NM_001130438.3(SPTAN1):c.6959+7G>T
|
rs373990901
|
|
NM_001130438.3(SPTAN1):c.6959+8G>A
|
|
|
NM_001130438.3(SPTAN1):c.6960-12T>G
|
|
|
NM_001130438.3(SPTAN1):c.6960-15C>A
|
rs1388078458
|
|
NM_001130438.3(SPTAN1):c.6960-3C>T
|
|
|
NM_001130438.3(SPTAN1):c.6960G>A (p.Arg2320=)
|
rs1276832919
|
|
NM_001130438.3(SPTAN1):c.6966A>G (p.Thr2322=)
|
|
|
NM_001130438.3(SPTAN1):c.6972T>C (p.Gly2324=)
|
rs2132094715
|
|
NM_001130438.3(SPTAN1):c.6975G>A (p.Val2325=)
|
|
|
NM_001130438.3(SPTAN1):c.6975G>C (p.Val2325=)
|
|
|
NM_001130438.3(SPTAN1):c.6975_6995delinsTC (p.Thr2326fs)
|
|
|
NM_001130438.3(SPTAN1):c.6979G>A (p.Glu2327Lys)
|
rs2132094752
|
|
NM_001130438.3(SPTAN1):c.698_723del (p.Val233fs)
|
rs1554741638
|
|
NM_001130438.3(SPTAN1):c.6993dup (p.Glu2332fs)
|
rs1859912470
|
|
NM_001130438.3(SPTAN1):c.69A>T (p.Leu23=)
|
|
|
NM_001130438.3(SPTAN1):c.6C>T (p.Asp2=)
|
|
|
NM_001130438.3(SPTAN1):c.7005G>C (p.Met2335Ile)
|
|
|
NM_001130438.3(SPTAN1):c.7012A>G (p.Lys2338Glu)
|
rs1554769099
|
|
NM_001130438.3(SPTAN1):c.7013+11C>A
|
rs769831605
|
|
NM_001130438.3(SPTAN1):c.7013+13T>C
|
|
|
NM_001130438.3(SPTAN1):c.7013+14T>C
|
|
|
NM_001130438.3(SPTAN1):c.7013+16C>A
|
|
|
NM_001130438.3(SPTAN1):c.7013+20C>T
|
|
|
NM_001130438.3(SPTAN1):c.7013+9A>G
|
|
|
NM_001130438.3(SPTAN1):c.7014-13C>T
|
|
|
NM_001130438.3(SPTAN1):c.7014-15G>A
|
rs201100247
|
|
NM_001130438.3(SPTAN1):c.7014-15G>C
|
|
|
NM_001130438.3(SPTAN1):c.7014-16C>A
|
|
|
NM_001130438.3(SPTAN1):c.7014-5T>G
|
|
|
NM_001130438.3(SPTAN1):c.701A>T (p.Asn234Ile)
|
|
|
NM_001130438.3(SPTAN1):c.7020T>C (p.Phe2340=)
|
|
|
NM_001130438.3(SPTAN1):c.7035T>C (p.Ser2345=)
|
rs2132099422
|
|
NM_001130438.3(SPTAN1):c.7040G>C (p.Arg2347Thr)
|
rs1859949028
|
|
NM_001130438.3(SPTAN1):c.7044G>A (p.Leu2348=)
|
|
|
NM_001130438.3(SPTAN1):c.7048C>G (p.His2350Asp)
|
|
|
NM_001130438.3(SPTAN1):c.7067G>A (p.Cys2356Tyr)
|
|
|
NM_001130438.3(SPTAN1):c.7072C>T (p.Arg2358Cys)
|
rs772463904
|
|
NM_001130438.3(SPTAN1):c.7074C>A (p.Arg2358=)
|
rs771456936
|
|
NM_001130438.3(SPTAN1):c.7084T>C (p.Tyr2362His)
|
rs957046231
|
|
NM_001130438.3(SPTAN1):c.708C>G (p.Ala236=)
|
rs1004400579
|
|
NM_001130438.3(SPTAN1):c.7101G>A (p.Val2367=)
|
|
|
NM_001130438.3(SPTAN1):c.7102G>C (p.Glu2368Gln)
|
rs796053329
|
|
NM_001130438.3(SPTAN1):c.7108G>C (p.Gly2370Arg)
|
rs1257414255
|
|
NM_001130438.3(SPTAN1):c.7123G>C (p.Glu2375Gln)
|
|
|
NM_001130438.3(SPTAN1):c.7129G>C (p.Glu2377Gln)
|
rs757162652
|
|
NM_001130438.3(SPTAN1):c.7131G>A (p.Glu2377=)
|
rs1177783409
|
|
NM_001130438.3(SPTAN1):c.7132G>A (p.Ala2378Thr)
|
rs767301092
|
|
NM_001130438.3(SPTAN1):c.7135A>C (p.Ile2379Leu)
|
rs770358940
|
|
NM_001130438.3(SPTAN1):c.7141G>A (p.Asp2381Asn)
|
rs1436043063
|
|
NM_001130438.3(SPTAN1):c.7149G>A (p.Val2383=)
|
|
|
NM_001130438.3(SPTAN1):c.7154C>A (p.Pro2385Gln)
|
|
|
NM_001130438.3(SPTAN1):c.7154C>T (p.Pro2385Leu)
|
|
|
NM_001130438.3(SPTAN1):c.7160+10T>C
|
rs1859976612
|
|
NM_001130438.3(SPTAN1):c.7160+10_7160+13del
|
rs554161838
|
|
NM_001130438.3(SPTAN1):c.7160+11T>C
|
|
|
NM_001130438.3(SPTAN1):c.7160+12A>T
|
rs2132102746
|
|
NM_001130438.3(SPTAN1):c.7160+4AATT[3]
|
|
|
NM_001130438.3(SPTAN1):c.7160+5_7160+9del
|
rs747442396
|
|
NM_001130438.3(SPTAN1):c.7160+5_7160+9dup
|
rs747442396
|
|
NM_001130438.3(SPTAN1):c.7160+6T>C
|
rs1218914219
|
|
NM_001130438.3(SPTAN1):c.7160+9A>G
|
rs748642362
|
|
NM_001130438.3(SPTAN1):c.7161-13C>G
|
|
|
NM_001130438.3(SPTAN1):c.7161-18dup
|
|
|
NM_001130438.3(SPTAN1):c.7161-2_7174del
|
rs2132105386
|
|
NM_001130438.3(SPTAN1):c.7161-3T>C
|
|
|
NM_001130438.3(SPTAN1):c.7161-6T>G
|
|
|
NM_001130438.3(SPTAN1):c.7161-8G>T
|
|
|
NM_001130438.3(SPTAN1):c.7161-9C>G
|
rs187613754
|
|
NM_001130438.3(SPTAN1):c.7166G>A (p.Gly2389Asp)
|
|
|
NM_001130438.3(SPTAN1):c.716G>A (p.Arg239Gln)
|
|
|
NM_001130438.3(SPTAN1):c.7198A>C (p.Met2400Leu)
|
rs1339856488
|
|
NM_001130438.3(SPTAN1):c.7198A>G (p.Met2400Val)
|
rs1339856488
|
|
NM_001130438.3(SPTAN1):c.7208G>A (p.Arg2403His)
|
rs1280116999
|
|
NM_001130438.3(SPTAN1):c.7210G>A (p.Glu2404Lys)
|
|
|
NM_001130438.3(SPTAN1):c.7221C>T (p.Asn2407=)
|
|
|
NM_001130438.3(SPTAN1):c.7224C>G (p.Val2408=)
|
rs771262997
|
|
NM_001130438.3(SPTAN1):c.7225_7228dup (p.Ser2410Ter)
|
|
|
NM_001130438.3(SPTAN1):c.7229C>T (p.Ser2410Phe)
|
rs2132106592
|
|
NM_001130438.3(SPTAN1):c.7242T>C (p.Ile2414=)
|
rs2132106786
|
|
NM_001130438.3(SPTAN1):c.7246A>C (p.Ser2416Arg)
|
|
|
NM_001130438.3(SPTAN1):c.7247G>A (p.Ser2416Asn)
|
rs1445682776
|
|
NM_001130438.3(SPTAN1):c.7249G>A (p.Ala2417Thr)
|
rs143739246
|
|
NM_001130438.3(SPTAN1):c.7256G>T (p.Arg2419Leu)
|
rs772995493
|
|
NM_001130438.3(SPTAN1):c.725G>C (p.Gly242Ala)
|
|
|
NM_001130438.3(SPTAN1):c.7264A>G (p.Ser2422Gly)
|
|
|
NM_001130438.3(SPTAN1):c.7265G>A (p.Ser2422Asn)
|
|
|
NM_001130438.3(SPTAN1):c.7267_7268delinsAA (p.Ser2423Lys)
|
rs1860016560
|
|
NM_001130438.3(SPTAN1):c.726C>T (p.Gly242=)
|
|
|
NM_001130438.3(SPTAN1):c.7272G>C (p.Glu2424Asp)
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rs766229911
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NM_001130438.3(SPTAN1):c.7279C>T (p.Pro2427Ser)
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NM_001130438.3(SPTAN1):c.7280C>T (p.Pro2427Leu)
|
rs1860019438
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NM_001130438.3(SPTAN1):c.7287G>T (p.Val2429=)
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NM_001130438.3(SPTAN1):c.7291A>G (p.Lys2431Glu)
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rs2132107869
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NM_001130438.3(SPTAN1):c.7293G>A (p.Lys2431=)
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NM_001130438.3(SPTAN1):c.7295A>C (p.Glu2432Ala)
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NM_001130438.3(SPTAN1):c.7299G>T (p.Glu2433Asp)
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NM_001130438.3(SPTAN1):c.7305C>A (p.Tyr2435Ter)
|
rs527570862
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NM_001130438.3(SPTAN1):c.7307_7308+30dup
|
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NM_001130438.3(SPTAN1):c.7307del (p.Gln2436fs)
|
rs1860025750
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NM_001130438.3(SPTAN1):c.7308+17G>T
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NM_001130438.3(SPTAN1):c.7308+18T>C
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NM_001130438.3(SPTAN1):c.7308+9del
|
rs1191675267
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NM_001130438.3(SPTAN1):c.7309-12_7309-11del
|
rs770948927
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NM_001130438.3(SPTAN1):c.7309-14C>G
|
rs1589422584
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NM_001130438.3(SPTAN1):c.7309-15TC[4]
|
rs770948927
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NM_001130438.3(SPTAN1):c.7309-6C>T
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rs1191417693
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NM_001130438.3(SPTAN1):c.7309-7C>G
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NM_001130438.3(SPTAN1):c.7309-8C>A
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NM_001130438.3(SPTAN1):c.730G>A (p.Ala244Thr)
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NM_001130438.3(SPTAN1):c.7314G>A (p.Leu2438=)
|
rs2132117488
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NM_001130438.3(SPTAN1):c.7316C>A (p.Thr2439Asn)
|
rs746532292
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NM_001130438.3(SPTAN1):c.7324C>A (p.Gln2442Lys)
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rs2132117718
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NM_001130438.3(SPTAN1):c.7334A>G (p.Tyr2445Cys)
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rs1364724669
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NM_001130438.3(SPTAN1):c.7335C>G (p.Tyr2445Ter)
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NM_001130438.3(SPTAN1):c.733C>T (p.Leu245=)
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NM_001130438.3(SPTAN1):c.7353_7354delinsAA (p.Pro2452Thr)
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NM_001130438.3(SPTAN1):c.7355C>T (p.Pro2452Leu)
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NM_001130438.3(SPTAN1):c.7357T>C (p.Tyr2453His)
|
rs1589423064
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NM_001130438.3(SPTAN1):c.7360G>C (p.Val2454Leu)
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NM_001130438.3(SPTAN1):c.7385C>A (p.Pro2462His)
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NM_001130438.3(SPTAN1):c.7385C>T (p.Pro2462Leu)
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NM_001130438.3(SPTAN1):c.7386C>T (p.Pro2462=)
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NM_001130438.3(SPTAN1):c.7391C>A (p.Ala2464Glu)
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NM_001130438.3(SPTAN1):c.7396G>C (p.Asp2466His)
|
rs367776636
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NM_001130438.3(SPTAN1):c.7398C>T (p.Asp2466=)
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NM_001130438.3(SPTAN1):c.73C>T (p.Arg25Ter)
|
rs2132957934
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NM_001130438.3(SPTAN1):c.7401C>A (p.Tyr2467Ter)
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NM_001130438.3(SPTAN1):c.7406A>C (p.Glu2469Ala)
|
rs1860133867
|
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NM_001130438.3(SPTAN1):c.7407G>A (p.Glu2469=)
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NM_001130438.3(SPTAN1):c.7409T>A (p.Phe2470Tyr)
|
rs1860134597
|
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NM_001130438.3(SPTAN1):c.7419G>T (p.Ser2473=)
|
rs375649697
|
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NM_001130438.3(SPTAN1):c.741G>A (p.Arg247=)
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|
|
NM_001130438.3(SPTAN1):c.7420C>A (p.Leu2474Ile)
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NM_001130438.3(SPTAN1):c.7420C>T (p.Leu2474Phe)
|
|
|
NM_001130438.3(SPTAN1):c.746G>A (p.Gly249Glu)
|
rs1851368468
|
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NM_001130438.3(SPTAN1):c.74G>A (p.Arg25Gln)
|
rs1850091477
|
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NM_001130438.3(SPTAN1):c.783C>T (p.Asn261=)
|
rs1265434463
|
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NM_001130438.3(SPTAN1):c.785+19C>A
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NM_001130438.3(SPTAN1):c.785+20T>C
|
rs529962403
|
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NM_001130438.3(SPTAN1):c.785+8G>A
|
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NM_001130438.3(SPTAN1):c.785+9C>T
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NM_001130438.3(SPTAN1):c.786-11T>G
|
rs1244125212
|
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NM_001130438.3(SPTAN1):c.786-4G>A
|
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NM_001130438.3(SPTAN1):c.794A>G (p.Asp265Gly)
|
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NM_001130438.3(SPTAN1):c.801T>C (p.Thr267=)
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NM_001130438.3(SPTAN1):c.829T>G (p.Leu277Val)
|
rs1851404419
|
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NM_001130438.3(SPTAN1):c.82C>T (p.Arg28Cys)
|
rs1850092105
|
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NM_001130438.3(SPTAN1):c.831A>T (p.Leu277Phe)
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NM_001130438.3(SPTAN1):c.835G>A (p.Ala279Thr)
|
rs1300670035
|
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NM_001130438.3(SPTAN1):c.837C>T (p.Ala279=)
|
rs200243332
|
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NM_001130438.3(SPTAN1):c.840dup (p.Asp281Ter)
|
rs2131011877
|
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NM_001130438.3(SPTAN1):c.841GAT[1] (p.Asp282del)
|
rs1564211324
|
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NM_001130438.3(SPTAN1):c.846T>C (p.Asp282=)
|
|
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NM_001130438.3(SPTAN1):c.852C>T (p.Gly284=)
|
rs1454898745
|
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NM_001130438.3(SPTAN1):c.856G>C (p.Asp286His)
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|
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NM_001130438.3(SPTAN1):c.862G>C (p.Ala288Pro)
|
rs796053298
|
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NM_001130438.3(SPTAN1):c.868G>A (p.Val290Ile)
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|
|
NM_001130438.3(SPTAN1):c.877C>G (p.Leu293Val)
|
rs763633945
|
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NM_001130438.3(SPTAN1):c.882T>C (p.Leu294=)
|
rs2131012378
|
|
NM_001130438.3(SPTAN1):c.883C>T (p.Arg295Trp)
|
|
|
NM_001130438.3(SPTAN1):c.885G>A (p.Arg295=)
|
|
|
NM_001130438.3(SPTAN1):c.889_896del (p.His297fs)
|
rs2131012464
|
|
NM_001130438.3(SPTAN1):c.89A>G (p.Lys30Arg)
|
rs1554735509
|
|
NM_001130438.3(SPTAN1):c.903G>T (p.Glu301Asp)
|
rs2131012602
|
|
NM_001130438.3(SPTAN1):c.906A>G (p.Arg302=)
|
rs1554741933
|
|
NM_001130438.3(SPTAN1):c.909T>G (p.Asp303Glu)
|
rs761676912
|
|
NM_001130438.3(SPTAN1):c.917C>T (p.Ala306Val)
|
rs2131012797
|
|
NM_001130438.3(SPTAN1):c.928A>G (p.Lys310Glu)
|
|
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NM_001130438.3(SPTAN1):c.930+10A>C
|
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NM_001130438.3(SPTAN1):c.930+11C>T
|
|
|
NM_001130438.3(SPTAN1):c.930+20G>A
|
|
|
NM_001130438.3(SPTAN1):c.930+9dup
|
|
|
NM_001130438.3(SPTAN1):c.930G>A (p.Lys310=)
|
rs1851412252
|
|
NM_001130438.3(SPTAN1):c.931-15G>A
|
|
|
NM_001130438.3(SPTAN1):c.931G>A (p.Val311Ile)
|
|
|
NM_001130438.3(SPTAN1):c.937G>A (p.Ala313Thr)
|
|
|
NM_001130438.3(SPTAN1):c.937G>C (p.Ala313Pro)
|
rs778408492
|
|
NM_001130438.3(SPTAN1):c.939C>G (p.Ala313=)
|
|
|
NM_001130438.3(SPTAN1):c.939C>T (p.Ala313=)
|
rs2131014238
|
|
NM_001130438.3(SPTAN1):c.955G>A (p.Asp319Asn)
|
|
|
NM_001130438.3(SPTAN1):c.961C>T (p.Leu321=)
|
rs1589189237
|
|
NM_001130438.3(SPTAN1):c.969G>C (p.Gln323His)
|
rs2131014686
|
|
NM_001130438.3(SPTAN1):c.96C>G (p.Leu32=)
|
rs1589149611
|
|
NM_001130438.3(SPTAN1):c.970T>A (p.Ser324Thr)
|
|
|
NM_001130438.3(SPTAN1):c.980T>C (p.Leu327Pro)
|
rs1851427709
|
|
NM_001130438.3(SPTAN1):c.991C>G (p.Gln331Glu)
|
|
|
NM_001130438.3(SPTAN1):c.996T>C (p.Ile332=)
|
rs2131015101
|
|
NM_001130438.3:c.(?_1225)_(1572_?)del
|
|
|