NM_001130438.3(SPTAN1):c.2163= (p.Ala721=)
|
rs10760566
|
0.03060
|
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu)
|
rs143108250
|
0.00073
|
NM_001130438.3(SPTAN1):c.2610A>G (p.Gln870=)
|
rs138101005
|
0.00066
|
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly)
|
rs143166100
|
0.00054
|
NM_001130438.3(SPTAN1):c.3912C>T (p.Pro1304=)
|
rs143844598
|
0.00046
|
NM_001130438.3(SPTAN1):c.2324C>T (p.Ala775Val)
|
rs144649618
|
0.00043
|
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser)
|
rs145038571
|
0.00038
|
NM_001130438.3(SPTAN1):c.2700C>T (p.Asn900=)
|
rs147466898
|
0.00036
|
NM_001130438.3(SPTAN1):c.480C>T (p.Asp160=)
|
rs201249013
|
0.00031
|
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.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.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.2011+10G>A
|
rs377437879
|
0.00018
|
NM_001130438.3(SPTAN1):c.108G>A (p.Arg36=)
|
rs371017342
|
0.00017
|
NM_001130438.3(SPTAN1):c.4905+19C>T
|
rs140922514
|
0.00017
|
NM_001130438.3(SPTAN1):c.6417C>T (p.Asp2139=)
|
rs140418358
|
0.00016
|
NM_001130438.3(SPTAN1):c.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.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.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.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.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.7296G>A (p.Glu2432=)
|
rs765393647
|
0.00011
|
NM_001130438.3(SPTAN1):c.959G>A (p.Arg320His)
|
rs140076136
|
0.00011
|
NM_001130438.3(SPTAN1):c.3441G>A (p.Leu1147=)
|
rs113157213
|
0.00010
|
NM_001130438.3(SPTAN1):c.5820C>T (p.Asp1940=)
|
rs147815147
|
0.00010
|
NM_001130438.3(SPTAN1):c.7013+18C>T
|
rs368329742
|
0.00010
|
NM_001130438.3(SPTAN1):c.2438-15G>A
|
rs201319189
|
0.00009
|
NM_001130438.3(SPTAN1):c.3078C>T (p.Pro1026=)
|
rs779993051
|
0.00009
|
NM_001130438.3(SPTAN1):c.4224C>T (p.His1408=)
|
rs200180598
|
0.00009
|
NM_001130438.3(SPTAN1):c.5833-10C>T
|
rs1389531374
|
0.00009
|
NM_001130438.3(SPTAN1):c.6405C>T (p.Arg2135=)
|
rs767640999
|
0.00009
|
NM_001130438.3(SPTAN1):c.6654C>T (p.His2218=)
|
rs372825476
|
0.00009
|
NM_001130438.3(SPTAN1):c.7360G>A (p.Val2454Met)
|
rs766616293
|
0.00009
|
NM_001130438.3(SPTAN1):c.237+10A>G
|
rs746224717
|
0.00008
|
NM_001130438.3(SPTAN1):c.2760G>A (p.Lys920=)
|
rs773435271
|
0.00008
|
NM_001130438.3(SPTAN1):c.3803T>C (p.Val1268Ala)
|
rs146153626
|
0.00008
|
NM_001130438.3(SPTAN1):c.5949C>T (p.Phe1983=)
|
rs762358113
|
0.00008
|
NM_001130438.3(SPTAN1):c.6763C>T (p.Arg2255Cys)
|
rs372779649
|
0.00008
|
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.3007-16C>A
|
rs377381640
|
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.5648A>G (p.Asn1883Ser)
|
rs200248814
|
0.00006
|
NM_001130438.3(SPTAN1):c.5817A>G (p.Gln1939=)
|
rs578124150
|
0.00006
|
NM_001130438.3(SPTAN1):c.6195C>T (p.Ser2065=)
|
rs760243298
|
0.00006
|
NM_001130438.3(SPTAN1):c.1806+4A>G
|
rs770046688
|
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.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.1968G>A (p.Val656=)
|
rs968327265
|
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.4045C>T (p.Arg1349Trp)
|
rs771862017
|
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.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.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.7401C>T (p.Tyr2467=)
|
rs766927132
|
0.00004
|
NM_001130438.3(SPTAN1):c.1215G>A (p.Glu405=)
|
rs750970364
|
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.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.2548A>C (p.Met850Leu)
|
rs371776794
|
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.3216-19C>A
|
rs368814792
|
0.00003
|
NM_001130438.3(SPTAN1):c.363+18G>A
|
rs376019489
|
0.00003
|
NM_001130438.3(SPTAN1):c.4479G>A (p.Ala1493=)
|
rs201716851
|
0.00003
|
NM_001130438.3(SPTAN1):c.4905+7C>T
|
rs752304112
|
0.00003
|
NM_001130438.3(SPTAN1):c.4906-15C>T
|
rs756241253
|
0.00003
|
NM_001130438.3(SPTAN1):c.5064C>T (p.Ser1688=)
|
rs1046339532
|
0.00003
|
NM_001130438.3(SPTAN1):c.5205C>T (p.Phe1735=)
|
rs757734927
|
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.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+7G>A
|
rs373990901
|
0.00003
|
NM_001130438.3(SPTAN1):c.7014-16C>T
|
rs137913528
|
0.00003
|
NM_001130438.3(SPTAN1):c.7083C>T (p.Gly2361=)
|
rs1282937209
|
0.00003
|
NM_001130438.3(SPTAN1):c.7128C>T (p.Phe2376=)
|
rs369792563
|
0.00003
|
NM_001130438.3(SPTAN1):c.7302C>T (p.Leu2434=)
|
rs758405090
|
0.00003
|
NM_001130438.3(SPTAN1):c.7395C>T (p.Phe2465=)
|
rs752878085
|
0.00003
|
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.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.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.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.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.4524C>T (p.Ala1508=)
|
rs371100708
|
0.00002
|
NM_001130438.3(SPTAN1):c.4725T>C (p.Ser1575=)
|
rs753055605
|
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.5044-16G>C
|
rs747282086
|
0.00002
|
NM_001130438.3(SPTAN1):c.5139T>C (p.Ser1713=)
|
rs755166792
|
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.5601-6_5601-5del
|
rs781645028
|
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.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.6424C>T (p.Arg2142Cys)
|
rs796053323
|
0.00002
|
NM_001130438.3(SPTAN1):c.6468C>T (p.Ala2156=)
|
rs551663711
|
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.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.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.129C>T (p.Ser43=)
|
rs1442175070
|
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.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.1495T>C (p.Leu499=)
|
rs748615499
|
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.1650+9G>A
|
rs745454196
|
0.00001
|
NM_001130438.3(SPTAN1):c.1677C>T (p.His559=)
|
rs587784432
|
0.00001
|
NM_001130438.3(SPTAN1):c.1701C>T (p.Ala567=)
|
rs1391943816
|
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.1953T>C (p.Ala651=)
|
rs376957536
|
0.00001
|
NM_001130438.3(SPTAN1):c.201A>T (p.Ala67=)
|
rs765540595
|
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.2286C>T (p.Leu762=)
|
rs745436802
|
0.00001
|
NM_001130438.3(SPTAN1):c.2292T>A (p.Ala764=)
|
rs140939957
|
0.00001
|
NM_001130438.3(SPTAN1):c.2326C>T (p.Arg776Trp)
|
rs148258493
|
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.2421C>T (p.Ala807=)
|
rs1329573763
|
0.00001
|
NM_001130438.3(SPTAN1):c.2430C>T (p.Thr810=)
|
rs754228048
|
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.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.285C>T (p.Asn95=)
|
rs533717545
|
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.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.3090C>T (p.Ala1030=)
|
rs1314188538
|
0.00001
|
NM_001130438.3(SPTAN1):c.3155+17G>A
|
rs765814431
|
0.00001
|
NM_001130438.3(SPTAN1):c.3181A>G (p.Ser1061Gly)
|
rs1369204255
|
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.3357C>T (p.Val1119=)
|
rs1279884865
|
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.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.3579+3_3579+4dup
|
rs797046004
|
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.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.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.3786A>G (p.Gly1262=)
|
rs199902257
|
0.00001
|
NM_001130438.3(SPTAN1):c.3801T>C (p.Ser1267=)
|
rs751784689
|
0.00001
|
NM_001130438.3(SPTAN1):c.3865-7C>T
|
rs1248978165
|
0.00001
|
NM_001130438.3(SPTAN1):c.3948G>A (p.Glu1316=)
|
rs1278108281
|
0.00001
|
NM_001130438.3(SPTAN1):c.4008T>C (p.Gly1336=)
|
rs780641212
|
0.00001
|
NM_001130438.3(SPTAN1):c.4038C>T (p.Ser1346=)
|
rs768542176
|
0.00001
|
NM_001130438.3(SPTAN1):c.4129T>C (p.Leu1377=)
|
rs1220521892
|
0.00001
|
NM_001130438.3(SPTAN1):c.4164C>T (p.Ile1388=)
|
rs759713935
|
0.00001
|
NM_001130438.3(SPTAN1):c.4174G>A (p.Ala1392Thr)
|
rs972500325
|
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.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.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.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.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.5244C>T (p.Asn1748=)
|
rs747794736
|
0.00001
|
NM_001130438.3(SPTAN1):c.5280C>G (p.Ser1760=)
|
rs1857089934
|
0.00001
|
NM_001130438.3(SPTAN1):c.5361G>A (p.Glu1787=)
|
rs756977702
|
0.00001
|
NM_001130438.3(SPTAN1):c.5508C>T (p.Ser1836=)
|
rs777780283
|
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.5688C>G (p.Thr1896=)
|
rs749391487
|
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.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.5880C>T (p.Asn1960=)
|
rs372782253
|
0.00001
|
NM_001130438.3(SPTAN1):c.5929C>T (p.Leu1977=)
|
rs745668882
|
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.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.6117C>G (p.Ala2039=)
|
rs1310120255
|
0.00001
|
NM_001130438.3(SPTAN1):c.6147C>T (p.Leu2049=)
|
rs778917848
|
0.00001
|
NM_001130438.3(SPTAN1):c.615T>A (p.Val205=)
|
rs763385120
|
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.6312G>A (p.Lys2104=)
|
rs759120249
|
0.00001
|
NM_001130438.3(SPTAN1):c.6321C>T (p.Ala2107=)
|
rs769488004
|
0.00001
|
NM_001130438.3(SPTAN1):c.6414C>T (p.His2138=)
|
rs537595625
|
0.00001
|
NM_001130438.3(SPTAN1):c.6453C>T (p.Asp2151=)
|
rs376208532
|
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.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.6790A>C (p.Arg2264=)
|
rs766550915
|
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.7160+16C>T
|
rs772488907
|
0.00001
|
NM_001130438.3(SPTAN1):c.7161-13C>T
|
rs1489017459
|
0.00001
|
NM_001130438.3(SPTAN1):c.7209C>T (p.Arg2403=)
|
rs778129817
|
0.00001
|
NM_001130438.3(SPTAN1):c.7275A>G (p.Gly2425=)
|
rs1239084886
|
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.7350G>A (p.Met2450Ile)
|
rs761874094
|
0.00001
|
NM_001130438.3(SPTAN1):c.7377C>T (p.Arg2459=)
|
rs756798259
|
0.00001
|
NM_001130438.3(SPTAN1):c.785+12G>C
|
rs774982401
|
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.1008A>G (p.Arg336=)
|
|
|
NM_001130438.3(SPTAN1):c.1014A>G (p.Glu338=)
|
|
|
NM_001130438.3(SPTAN1):c.1050G>A (p.Ala350=)
|
rs752710398
|
|
NM_001130438.3(SPTAN1):c.1066C>T (p.Arg356Trp)
|
rs370695453
|
|
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+3G>A
|
rs1420995845
|
|
NM_001130438.3(SPTAN1):c.1085+3_1085+4delinsTT
|
rs1851440097
|
|
NM_001130438.3(SPTAN1):c.1085+8T>G
|
|
|
NM_001130438.3(SPTAN1):c.1086-11G>C
|
|
|
NM_001130438.3(SPTAN1):c.1086-18_1086-17delinsAA
|
rs1554742449
|
|
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.1131G>A (p.Val377=)
|
|
|
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.1176T>C (p.Asp392=)
|
rs758571561
|
|
NM_001130438.3(SPTAN1):c.1179G>C (p.Val393=)
|
|
|
NM_001130438.3(SPTAN1):c.1186G>A (p.Ala396Thr)
|
rs1851525959
|
|
NM_001130438.3(SPTAN1):c.120G>A (p.Leu40=)
|
rs2132958989
|
|
NM_001130438.3(SPTAN1):c.1218C>T (p.His406=)
|
rs2131030883
|
|
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.1251C>T (p.Phe417=)
|
rs2131061265
|
|
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.129C>A (p.Ser43=)
|
|
|
NM_001130438.3(SPTAN1):c.1308T>C (p.Asp436=)
|
|
|
NM_001130438.3(SPTAN1):c.1323+15A>C
|
rs756784077
|
|
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.133C>A (p.Arg45=)
|
|
|
NM_001130438.3(SPTAN1):c.1350G>T (p.Ala450=)
|
|
|
NM_001130438.3(SPTAN1):c.1353G>A (p.Ala451=)
|
|
|
NM_001130438.3(SPTAN1):c.1362G>A (p.Glu454=)
|
rs144590741
|
|
NM_001130438.3(SPTAN1):c.1380G>A (p.Arg460=)
|
|
|
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.1443C>T (p.Asn481=)
|
|
|
NM_001130438.3(SPTAN1):c.1461+15A>C
|
|
|
NM_001130438.3(SPTAN1):c.1461+19C>G
|
|
|
NM_001130438.3(SPTAN1):c.1464G>A (p.Ala488=)
|
|
|
NM_001130438.3(SPTAN1):c.1468C>T (p.Leu490=)
|
|
|
NM_001130438.3(SPTAN1):c.1497G>A (p.Leu499=)
|
|
|
NM_001130438.3(SPTAN1):c.154G>A (p.Asp52Asn)
|
rs1564194636
|
|
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.1584A>G (p.Glu528=)
|
rs767443717
|
|
NM_001130438.3(SPTAN1):c.159T>A (p.Ala53=)
|
|
|
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.1653G>A (p.Leu551=)
|
rs2131127973
|
|
NM_001130438.3(SPTAN1):c.1662C>T (p.Arg554=)
|
rs1398071492
|
|
NM_001130438.3(SPTAN1):c.1668T>C (p.Asn556=)
|
rs1406334272
|
|
NM_001130438.3(SPTAN1):c.1698G>A (p.Arg566=)
|
rs2131129556
|
|
NM_001130438.3(SPTAN1):c.1767C>T (p.Val589=)
|
|
|
NM_001130438.3(SPTAN1):c.1778T>C (p.Met593Thr)
|
rs1382899008
|
|
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.1807-9T>C
|
|
|
NM_001130438.3(SPTAN1):c.1833A>G (p.Val611=)
|
rs2131137645
|
|
NM_001130438.3(SPTAN1):c.1866A>G (p.Ser622=)
|
|
|
NM_001130438.3(SPTAN1):c.1881A>C (p.Arg627=)
|
|
|
NM_001130438.3(SPTAN1):c.190C>A (p.Leu64Ile)
|
rs1589149870
|
|
NM_001130438.3(SPTAN1):c.1929C>T (p.His643=)
|
|
|
NM_001130438.3(SPTAN1):c.195G>A (p.Gln65=)
|
rs2132960242
|
|
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.2040A>G (p.Gln680=)
|
rs1589216696
|
|
NM_001130438.3(SPTAN1):c.2082A>T (p.Leu694=)
|
rs2131151846
|
|
NM_001130438.3(SPTAN1):c.2094A>C (p.Glu698Asp)
|
rs1554746116
|
|
NM_001130438.3(SPTAN1):c.210G>A (p.Glu70=)
|
|
|
NM_001130438.3(SPTAN1):c.2148C>G (p.Leu716=)
|
|
|
NM_001130438.3(SPTAN1):c.2148C>T (p.Leu716=)
|
|
|
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.2194-15C>T
|
|
|
NM_001130438.3(SPTAN1):c.2194-20C>T
|
|
|
NM_001130438.3(SPTAN1):c.2196C>T (p.Asp732=)
|
rs757365265
|
|
NM_001130438.3(SPTAN1):c.2207G>A (p.Gly736Asp)
|
rs868177632
|
|
NM_001130438.3(SPTAN1):c.2262C>T (p.Asn754=)
|
|
|
NM_001130438.3(SPTAN1):c.2289G>A (p.Val763=)
|
|
|
NM_001130438.3(SPTAN1):c.2298T>C (p.Tyr766=)
|
rs2131162364
|
|
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.2316C>G (p.Pro772=)
|
rs2131162953
|
|
NM_001130438.3(SPTAN1):c.2322T>G (p.Val774=)
|
rs1852316309
|
|
NM_001130438.3(SPTAN1):c.2338C>T (p.Leu780=)
|
|
|
NM_001130438.3(SPTAN1):c.2340G>A (p.Leu780=)
|
|
|
NM_001130438.3(SPTAN1):c.2343C>T (p.Ala781=)
|
rs34084388
|
|
NM_001130438.3(SPTAN1):c.2343_2344delinsAA (p.Asp782Asn)
|
|
|
NM_001130438.3(SPTAN1):c.2350C>T (p.Leu784=)
|
rs2131163659
|
|
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.2401C>A (p.Arg801=)
|
rs2131164463
|
|
NM_001130438.3(SPTAN1):c.2421C>A (p.Ala807=)
|
rs1329573763
|
|
NM_001130438.3(SPTAN1):c.2437+13C>T
|
|
|
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.2513C>T (p.Pro838Leu)
|
rs1589220462
|
|
NM_001130438.3(SPTAN1):c.2517C>T (p.Arg839=)
|
rs2131170700
|
|
NM_001130438.3(SPTAN1):c.252G>A (p.Lys84=)
|
|
|
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.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.2580T>C (p.Asp860=)
|
rs1589223768
|
|
NM_001130438.3(SPTAN1):c.2592G>A (p.Lys864=)
|
rs2131193482
|
|
NM_001130438.3(SPTAN1):c.2604G>A (p.Leu868=)
|
|
|
NM_001130438.3(SPTAN1):c.2652G>A (p.Gln884=)
|
|
|
NM_001130438.3(SPTAN1):c.2656C>T (p.Leu886=)
|
|
|
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.2752T>A (p.Tyr918Asn)
|
rs1589224403
|
|
NM_001130438.3(SPTAN1):c.276G>A (p.Val92=)
|
|
|
NM_001130438.3(SPTAN1):c.2778+10C>A
|
rs369106919
|
|
NM_001130438.3(SPTAN1):c.2778+11G>A
|
|
|
NM_001130438.3(SPTAN1):c.2778+19C>T
|
|
|
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.279G>A (p.Gln93=)
|
rs1238640716
|
|
NM_001130438.3(SPTAN1):c.2811A>G (p.Ser937=)
|
rs2131238281
|
|
NM_001130438.3(SPTAN1):c.282C>T (p.Ala94=)
|
|
|
NM_001130438.3(SPTAN1):c.2850A>G (p.Arg950=)
|
|
|
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.288A>G (p.Ser96=)
|
|
|
NM_001130438.3(SPTAN1):c.2901T>C (p.Thr967=)
|
|
|
NM_001130438.3(SPTAN1):c.2916C>G (p.Val972=)
|
|
|
NM_001130438.3(SPTAN1):c.2916C>T (p.Val972=)
|
|
|
NM_001130438.3(SPTAN1):c.2952A>G (p.Arg984=)
|
rs1336849990
|
|
NM_001130438.3(SPTAN1):c.2994C>T (p.Asn998=)
|
rs1470152077
|
|
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.3007-16C>T
|
|
|
NM_001130438.3(SPTAN1):c.3007-3del
|
rs1589245726
|
|
NM_001130438.3(SPTAN1):c.3007-5C>G
|
|
|
NM_001130438.3(SPTAN1):c.3045T>C (p.Phe1015=)
|
|
|
NM_001130438.3(SPTAN1):c.3048G>T (p.Val1016=)
|
|
|
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.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.3155+11C>T
|
|
|
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.315T>C (p.Thr105=)
|
rs1182605348
|
|
NM_001130438.3(SPTAN1):c.3177C>G (p.Ala1059=)
|
rs369531936
|
|
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.3228G>A (p.Leu1076=)
|
|
|
NM_001130438.3(SPTAN1):c.3267G>A (p.Lys1089=)
|
rs2131360582
|
|
NM_001130438.3(SPTAN1):c.3321C>T (p.Ile1107=)
|
|
|
NM_001130438.3(SPTAN1):c.3336C>T (p.Ala1112=)
|
|
|
NM_001130438.3(SPTAN1):c.3360A>G (p.Gly1120=)
|
|
|
NM_001130438.3(SPTAN1):c.3390G>A (p.Gln1130=)
|
rs2131361631
|
|
NM_001130438.3(SPTAN1):c.3414+12C>T
|
rs2131361950
|
|
NM_001130438.3(SPTAN1):c.3415-14C>T
|
|
|
NM_001130438.3(SPTAN1):c.348A>G (p.Ala116=)
|
|
|
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.3528T>C (p.Tyr1176=)
|
rs1589272670
|
|
NM_001130438.3(SPTAN1):c.3540C>G (p.Pro1180=)
|
rs1060504932
|
|
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.3567C>A (p.Ala1189=)
|
rs2131475513
|
|
NM_001130438.3(SPTAN1):c.3573G>A (p.Pro1191=)
|
rs781021400
|
|
NM_001130438.3(SPTAN1):c.3579+21del
|
rs2131476505
|
|
NM_001130438.3(SPTAN1):c.3579+8C>A
|
rs1854910788
|
|
NM_001130438.3(SPTAN1):c.3580-5_3580-2del
|
rs754528571
|
|
NM_001130438.3(SPTAN1):c.3580-8C>G
|
|
|
NM_001130438.3(SPTAN1):c.3603C>T (p.Thr1201=)
|
|
|
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.364-14T>A
|
rs1851102352
|
|
NM_001130438.3(SPTAN1):c.364-20C>T
|
rs780867742
|
|
NM_001130438.3(SPTAN1):c.364-7C>T
|
|
|
NM_001130438.3(SPTAN1):c.3663G>A (p.Leu1221=)
|
|
|
NM_001130438.3(SPTAN1):c.3666C>T (p.Ala1222=)
|
rs372831978
|
|
NM_001130438.3(SPTAN1):c.366C>T (p.Thr122=)
|
|
|
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.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.3783T>C (p.Tyr1261=)
|
rs1589296050
|
|
NM_001130438.3(SPTAN1):c.3789T>C (p.His1263=)
|
rs1855655548
|
|
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.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.3885A>G (p.Thr1295=)
|
|
|
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.396A>G (p.Glu132=)
|
rs1589176632
|
|
NM_001130438.3(SPTAN1):c.3981T>G (p.Arg1327=)
|
rs1855698042
|
|
NM_001130438.3(SPTAN1):c.3999A>G (p.Ala1333=)
|
|
|
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.4033C>G (p.Leu1345Val)
|
rs1589297894
|
|
NM_001130438.3(SPTAN1):c.4046+11A>G
|
rs765778684
|
|
NM_001130438.3(SPTAN1):c.4046+12T>C
|
|
|
NM_001130438.3(SPTAN1):c.4047-14G>A
|
|
|
NM_001130438.3(SPTAN1):c.4047-14G>C
|
rs558154123
|
|
NM_001130438.3(SPTAN1):c.4047-18T>G
|
|
|
NM_001130438.3(SPTAN1):c.4048G>A (p.Asp1350Asn)
|
rs1564278818
|
|
NM_001130438.3(SPTAN1):c.4071A>G (p.Gly1357=)
|
|
|
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.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.4170C>T (p.Ala1390=)
|
rs1589309475
|
|
NM_001130438.3(SPTAN1):c.4197G>A (p.Glu1399=)
|
rs367635991
|
|
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.4227A>G (p.Gly1409=)
|
|
|
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.4344+10C>T
|
|
|
NM_001130438.3(SPTAN1):c.4344+12C>T
|
|
|
NM_001130438.3(SPTAN1):c.4344+13C>T
|
|
|
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.4345-9C>A
|
|
|
NM_001130438.3(SPTAN1):c.4392G>A (p.Arg1464=)
|
|
|
NM_001130438.3(SPTAN1):c.4458A>G (p.Lys1486=)
|
rs1411742904
|
|
NM_001130438.3(SPTAN1):c.4479G>T (p.Ala1493=)
|
rs201716851
|
|
NM_001130438.3(SPTAN1):c.4482T>C (p.Ile1494=)
|
|
|
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.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.4533C>G (p.Leu1511=)
|
rs375026050
|
|
NM_001130438.3(SPTAN1):c.4542C>T (p.Ala1514=)
|
|
|
NM_001130438.3(SPTAN1):c.4543G>T (p.Gly1515Cys)
|
rs149899658
|
|
NM_001130438.3(SPTAN1):c.4552G>A (p.Ala1518Thr)
|
rs1564282020
|
|
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.4595+18C>T
|
|
|
NM_001130438.3(SPTAN1):c.4595+7G>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.4630A>C (p.Arg1544=)
|
rs373650761
|
|
NM_001130438.3(SPTAN1):c.4641A>G (p.Leu1547=)
|
|
|
NM_001130438.3(SPTAN1):c.4653A>G (p.Gln1551=)
|
rs2131635657
|
|
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.4686G>A (p.Glu1562=)
|
rs2131635933
|
|
NM_001130438.3(SPTAN1):c.4716A>G (p.Gln1572=)
|
rs755612920
|
|
NM_001130438.3(SPTAN1):c.4734G>A (p.Ser1578=)
|
rs370640807
|
|
NM_001130438.3(SPTAN1):c.4734G>T (p.Ser1578=)
|
|
|
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.4806A>C (p.Ala1602=)
|
|
|
NM_001130438.3(SPTAN1):c.4815T>C (p.His1605=)
|
rs2131676265
|
|
NM_001130438.3(SPTAN1):c.4839G>A (p.Gly1613=)
|
|
|
NM_001130438.3(SPTAN1):c.4845C>T (p.Ile1615=)
|
|
|
NM_001130438.3(SPTAN1):c.4863C>T (p.Leu1621=)
|
|
|
NM_001130438.3(SPTAN1):c.4884C>T (p.Ala1628=)
|
rs759241143
|
|
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.4929C>T (p.Asp1643=)
|
rs1379977913
|
|
NM_001130438.3(SPTAN1):c.4947G>A (p.Val1649=)
|
|
|
NM_001130438.3(SPTAN1):c.4956A>G (p.Ser1652=)
|
|
|
NM_001130438.3(SPTAN1):c.4958C>T (p.Ala1653Val)
|
rs374723711
|
|
NM_001130438.3(SPTAN1):c.4995G>A (p.Gln1665=)
|
rs2131682537
|
|
NM_001130438.3(SPTAN1):c.5016C>T (p.Ile1672=)
|
|
|
NM_001130438.3(SPTAN1):c.501C>T (p.Asp167=)
|
rs1851117702
|
|
NM_001130438.3(SPTAN1):c.5035C>T (p.Leu1679=)
|
|
|
NM_001130438.3(SPTAN1):c.504+14A>C
|
|
|
NM_001130438.3(SPTAN1):c.5043+11G>A
|
|
|
NM_001130438.3(SPTAN1):c.5043+7C>T
|
|
|
NM_001130438.3(SPTAN1):c.5044-11_5044-10dup
|
|
|
NM_001130438.3(SPTAN1):c.5044-8A>G
|
|
|
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.5058G>A (p.Leu1686=)
|
|
|
NM_001130438.3(SPTAN1):c.5076C>A (p.Gly1692=)
|
rs761438413
|
|
NM_001130438.3(SPTAN1):c.5091T>C (p.Ser1697=)
|
|
|
NM_001130438.3(SPTAN1):c.5119C>T (p.Leu1707=)
|
|
|
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.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.5149-6C>A
|
|
|
NM_001130438.3(SPTAN1):c.5149-8del
|
|
|
NM_001130438.3(SPTAN1):c.5202C>T (p.Ala1734=)
|
rs2131744231
|
|
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.5337T>C (p.Asp1779=)
|
|
|
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.5373G>T (p.Leu1791=)
|
|
|
NM_001130438.3(SPTAN1):c.5382A>C (p.Ser1794=)
|
rs1359210582
|
|
NM_001130438.3(SPTAN1):c.5433C>T (p.His1811=)
|
rs772382171
|
|
NM_001130438.3(SPTAN1):c.5461C>T (p.His1821Tyr)
|
rs1589352062
|
|
NM_001130438.3(SPTAN1):c.5463T>C (p.His1821=)
|
|
|
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.5479-5G>A
|
rs1554763238
|
|
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.5529A>G (p.Lys1843=)
|
rs776079416
|
|
NM_001130438.3(SPTAN1):c.5568C>T (p.His1856=)
|
rs1857396464
|
|
NM_001130438.3(SPTAN1):c.5592A>C (p.Ala1864=)
|
rs1857398448
|
|
NM_001130438.3(SPTAN1):c.5592A>G (p.Ala1864=)
|
|
|
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.5608C>T (p.Arg1870Trp)
|
rs1423165476
|
|
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.5676T>C (p.Asn1892=)
|
rs2131817623
|
|
NM_001130438.3(SPTAN1):c.5694G>A (p.Val1898=)
|
rs867428978
|
|
NM_001130438.3(SPTAN1):c.5706T>C (p.Asp1902=)
|
rs2131818082
|
|
NM_001130438.3(SPTAN1):c.570A>G (p.Lys190=)
|
|
|
NM_001130438.3(SPTAN1):c.5724C>A (p.Ala1908=)
|
rs886063507
|
|
NM_001130438.3(SPTAN1):c.5733+18G>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.5789G>A (p.Arg1930His)
|
rs771921943
|
|
NM_001130438.3(SPTAN1):c.5814A>G (p.Gly1938=)
|
|
|
NM_001130438.3(SPTAN1):c.5823C>T (p.Leu1941=)
|
|
|
NM_001130438.3(SPTAN1):c.5832+15T>C
|
|
|
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.5883G>A (p.Gly1961=)
|
rs1367701362
|
|
NM_001130438.3(SPTAN1):c.588A>C (p.Thr196=)
|
rs776782747
|
|
NM_001130438.3(SPTAN1):c.5895C>T (p.Asp1965=)
|
rs1471583021
|
|
NM_001130438.3(SPTAN1):c.5898G>C (p.Leu1966=)
|
|
|
NM_001130438.3(SPTAN1):c.5904A>G (p.Lys1968=)
|
rs778709187
|
|
NM_001130438.3(SPTAN1):c.591T>C (p.Asp197=)
|
rs2130976410
|
|
NM_001130438.3(SPTAN1):c.5928G>A (p.Lys1976=)
|
|
|
NM_001130438.3(SPTAN1):c.5970G>A (p.Ala1990=)
|
|
|
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.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.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.6070-6G>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.6120C>T (p.Asn2040=)
|
rs2131952739
|
|
NM_001130438.3(SPTAN1):c.6138T>C (p.Asp2046=)
|
|
|
NM_001130438.3(SPTAN1):c.615T>G (p.Val205=)
|
|
|
NM_001130438.3(SPTAN1):c.6177C>T (p.Ile2059=)
|
|
|
NM_001130438.3(SPTAN1):c.6189C>T (p.His2063=)
|
rs367629442
|
|
NM_001130438.3(SPTAN1):c.6192C>G (p.Ala2064=)
|
|
|
NM_001130438.3(SPTAN1):c.6198C>T (p.Leu2066=)
|
rs138305416
|
|
NM_001130438.3(SPTAN1):c.6220C>T (p.Leu2074=)
|
|
|
NM_001130438.3(SPTAN1):c.6225C>T (p.Ala2075=)
|
rs2131954813
|
|
NM_001130438.3(SPTAN1):c.6238C>T (p.Arg2080Cys)
|
rs1564315398
|
|
NM_001130438.3(SPTAN1):c.6258G>A (p.Glu2086=)
|
|
|
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.627C>T (p.Asn209=)
|
|
|
NM_001130438.3(SPTAN1):c.6294C>T (p.Phe2098=)
|
|
|
NM_001130438.3(SPTAN1):c.6327C>T (p.Asn2109=)
|
rs1432749648
|
|
NM_001130438.3(SPTAN1):c.6345A>G (p.Ala2115=)
|
rs1858761394
|
|
NM_001130438.3(SPTAN1):c.6366C>T (p.Pro2122=)
|
rs775566979
|
|
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.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.6516C>T (p.Tyr2172=)
|
|
|
NM_001130438.3(SPTAN1):c.652-9C>A
|
|
|
NM_001130438.3(SPTAN1):c.6528C>A (p.Thr2176=)
|
|
|
NM_001130438.3(SPTAN1):c.6546G>A (p.Glu2182=)
|
rs1239717990
|
|
NM_001130438.3(SPTAN1):c.654G>A (p.Glu218=)
|
|
|
NM_001130438.3(SPTAN1):c.6561A>T (p.Leu2187=)
|
rs1482545101
|
|
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+7C>G
|
rs765667007
|
|
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.6607C>A (p.Arg2203=)
|
rs759842941
|
|
NM_001130438.3(SPTAN1):c.6609G>A (p.Arg2203=)
|
rs1300415391
|
|
NM_001130438.3(SPTAN1):c.6624C>T (p.Asn2208=)
|
|
|
NM_001130438.3(SPTAN1):c.6689+11G>A
|
|
|
NM_001130438.3(SPTAN1):c.6690-14T>C
|
rs2131994892
|
|
NM_001130438.3(SPTAN1):c.6690-4A>G
|
rs1465836894
|
|
NM_001130438.3(SPTAN1):c.6690-7T>G
|
rs868686679
|
|
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+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.6756T>G (p.Ala2252=)
|
|
|
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+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.6763-16C>T
|
|
|
NM_001130438.3(SPTAN1):c.6763-4G>C
|
|
|
NM_001130438.3(SPTAN1):c.6763-6C>G
|
rs543227930
|
|
NM_001130438.3(SPTAN1):c.6777A>C (p.Glu2259Asp)
|
rs1859855635
|
|
NM_001130438.3(SPTAN1):c.6867G>A (p.Glu2289=)
|
|
|
NM_001130438.3(SPTAN1):c.6873C>T (p.Ser2291=)
|
|
|
NM_001130438.3(SPTAN1):c.6882C>G (p.Gly2294=)
|
|
|
NM_001130438.3(SPTAN1):c.6882C>T (p.Gly2294=)
|
rs1859868464
|
|
NM_001130438.3(SPTAN1):c.6888C>T (p.Ala2296=)
|
|
|
NM_001130438.3(SPTAN1):c.6903G>A (p.Gln2301=)
|
|
|
NM_001130438.3(SPTAN1):c.6948G>A (p.Gln2316=)
|
|
|
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+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.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.69A>T (p.Leu23=)
|
|
|
NM_001130438.3(SPTAN1):c.6C>T (p.Asp2=)
|
|
|
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.7014-15G>A
|
rs201100247
|
|
NM_001130438.3(SPTAN1):c.7014-15G>C
|
|
|
NM_001130438.3(SPTAN1):c.7014-5T>G
|
|
|
NM_001130438.3(SPTAN1):c.7020T>C (p.Phe2340=)
|
|
|
NM_001130438.3(SPTAN1):c.7035T>C (p.Ser2345=)
|
rs2132099422
|
|
NM_001130438.3(SPTAN1):c.7044G>A (p.Leu2348=)
|
|
|
NM_001130438.3(SPTAN1):c.7074C>A (p.Arg2358=)
|
rs771456936
|
|
NM_001130438.3(SPTAN1):c.708C>G (p.Ala236=)
|
rs1004400579
|
|
NM_001130438.3(SPTAN1):c.7101G>A (p.Val2367=)
|
|
|
NM_001130438.3(SPTAN1):c.7131G>A (p.Glu2377=)
|
rs1177783409
|
|
NM_001130438.3(SPTAN1):c.7135A>C (p.Ile2379Leu)
|
rs770358940
|
|
NM_001130438.3(SPTAN1):c.7149G>A (p.Val2383=)
|
|
|
NM_001130438.3(SPTAN1):c.7160+10T>C
|
rs1859976612
|
|
NM_001130438.3(SPTAN1):c.7160+11T>C
|
|
|
NM_001130438.3(SPTAN1):c.7160+12A>T
|
rs2132102746
|
|
NM_001130438.3(SPTAN1):c.7160+5_7160+9dup
|
rs747442396
|
|
NM_001130438.3(SPTAN1):c.7160+9A>G
|
rs748642362
|
|
NM_001130438.3(SPTAN1):c.7161-18dup
|
|
|
NM_001130438.3(SPTAN1):c.7161-6T>G
|
|
|
NM_001130438.3(SPTAN1):c.7161-7C>T
|
rs908872634
|
|
NM_001130438.3(SPTAN1):c.7161-8G>T
|
|
|
NM_001130438.3(SPTAN1):c.7198A>G (p.Met2400Val)
|
rs1339856488
|
|
NM_001130438.3(SPTAN1):c.7221C>T (p.Asn2407=)
|
|
|
NM_001130438.3(SPTAN1):c.7224C>G (p.Val2408=)
|
rs771262997
|
|
NM_001130438.3(SPTAN1):c.7242T>C (p.Ile2414=)
|
rs2132106786
|
|
NM_001130438.3(SPTAN1):c.726C>T (p.Gly242=)
|
|
|
NM_001130438.3(SPTAN1):c.7287G>T (p.Val2429=)
|
|
|
NM_001130438.3(SPTAN1):c.7293G>A (p.Lys2431=)
|
|
|
NM_001130438.3(SPTAN1):c.7308+18T>C
|
|
|
NM_001130438.3(SPTAN1):c.7308+9del
|
rs1191675267
|
|
NM_001130438.3(SPTAN1):c.7309-14C>G
|
rs1589422584
|
|
NM_001130438.3(SPTAN1):c.7309-15TC[4]
|
rs770948927
|
|
NM_001130438.3(SPTAN1):c.7309-6C>T
|
rs1191417693
|
|
NM_001130438.3(SPTAN1):c.7309-8C>A
|
|
|
NM_001130438.3(SPTAN1):c.7314G>A (p.Leu2438=)
|
rs2132117488
|
|
NM_001130438.3(SPTAN1):c.7334A>G (p.Tyr2445Cys)
|
rs1364724669
|
|
NM_001130438.3(SPTAN1):c.733C>T (p.Leu245=)
|
|
|
NM_001130438.3(SPTAN1):c.7357T>C (p.Tyr2453His)
|
rs1589423064
|
|
NM_001130438.3(SPTAN1):c.7386C>T (p.Pro2462=)
|
|
|
NM_001130438.3(SPTAN1):c.7396G>C (p.Asp2466His)
|
rs367776636
|
|
NM_001130438.3(SPTAN1):c.7398C>T (p.Asp2466=)
|
|
|
NM_001130438.3(SPTAN1):c.7407G>A (p.Glu2469=)
|
|
|
NM_001130438.3(SPTAN1):c.7419G>T (p.Ser2473=)
|
rs375649697
|
|
NM_001130438.3(SPTAN1):c.741G>A (p.Arg247=)
|
|
|
NM_001130438.3(SPTAN1):c.783C>T (p.Asn261=)
|
rs1265434463
|
|
NM_001130438.3(SPTAN1):c.785+19C>A
|
|
|
NM_001130438.3(SPTAN1):c.785+8G>A
|
|
|
NM_001130438.3(SPTAN1):c.785+9C>T
|
|
|
NM_001130438.3(SPTAN1):c.786-11T>G
|
rs1244125212
|
|
NM_001130438.3(SPTAN1):c.786-4G>A
|
|
|
NM_001130438.3(SPTAN1):c.801T>C (p.Thr267=)
|
|
|
NM_001130438.3(SPTAN1):c.82C>T (p.Arg28Cys)
|
rs1850092105
|
|
NM_001130438.3(SPTAN1):c.837C>T (p.Ala279=)
|
rs200243332
|
|
NM_001130438.3(SPTAN1):c.846T>C (p.Asp282=)
|
|
|
NM_001130438.3(SPTAN1):c.852C>T (p.Gly284=)
|
rs1454898745
|
|
NM_001130438.3(SPTAN1):c.882T>C (p.Leu294=)
|
rs2131012378
|
|
NM_001130438.3(SPTAN1):c.885G>A (p.Arg295=)
|
|
|
NM_001130438.3(SPTAN1):c.89A>G (p.Lys30Arg)
|
rs1554735509
|
|
NM_001130438.3(SPTAN1):c.906A>G (p.Arg302=)
|
rs1554741933
|
|
NM_001130438.3(SPTAN1):c.915T>A (p.Ala305=)
|
rs1589188817
|
|
NM_001130438.3(SPTAN1):c.930+10A>C
|
|
|
NM_001130438.3(SPTAN1):c.930+11C>T
|
|
|
NM_001130438.3(SPTAN1):c.930+20G>A
|
|
|
NM_001130438.3(SPTAN1):c.931-15G>A
|
|
|
NM_001130438.3(SPTAN1):c.939C>G (p.Ala313=)
|
|
|
NM_001130438.3(SPTAN1):c.939C>T (p.Ala313=)
|
rs2131014238
|
|
NM_001130438.3(SPTAN1):c.961C>T (p.Leu321=)
|
rs1589189237
|
|
NM_001130438.3(SPTAN1):c.96C>G (p.Leu32=)
|
rs1589149611
|
|
NM_001130438.3(SPTAN1):c.96C>T (p.Leu32=)
|
rs1589149611
|
|
NM_001130438.3(SPTAN1):c.996T>C (p.Ile332=)
|
rs2131015101
|
|