NM_014363.6(SACS):c.10338G>A (p.Gln3446=)
|
rs2737701
|
0.98600
|
NM_014363.6(SACS):c.9981T>C (p.Ala3327=)
|
rs2737700
|
0.36123
|
NM_014363.6(SACS):c.6195T>C (p.Ile2065=)
|
rs4143768
|
0.21785
|
NM_014363.6(SACS):c.8853T>C (p.Val2951=)
|
rs9552929
|
0.21755
|
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala)
|
rs17078605
|
0.21747
|
NM_014363.6(SACS):c.12304T>C (p.Leu4102=)
|
rs2737699
|
0.21736
|
NM_014363.6(SACS):c.696T>A (p.Asn232Lys)
|
rs2031640
|
0.08558
|
NM_014363.6(SACS):c.1656A>G (p.Leu552=)
|
rs1536365
|
0.08543
|
NM_014363.6(SACS):c.909A>G (p.Ala303=)
|
rs41315020
|
0.03313
|
NM_014363.6(SACS):c.1839G>A (p.Gln613=)
|
rs35840595
|
0.02863
|
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr)
|
rs17325713
|
0.02528
|
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala)
|
rs17078601
|
0.02418
|
NM_014363.6(SACS):c.7149C>T (p.Arg2383=)
|
rs17078608
|
0.01409
|
NM_014363.6(SACS):c.10305T>C (p.Ser3435=)
|
rs35670472
|
0.00986
|
NM_014363.6(SACS):c.12762C>T (p.Ser4254=)
|
rs11554397
|
0.00978
|
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp)
|
rs35799469
|
0.00804
|
NM_014363.6(SACS):c.8345C>T (p.Ala2782Val)
|
rs61742500
|
0.00776
|
NM_014363.6(SACS):c.8344G>A (p.Ala2782Thr)
|
rs61742502
|
0.00775
|
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro)
|
rs61326562
|
0.00706
|
NM_014363.6(SACS):c.6069C>T (p.Asn2023=)
|
rs35369023
|
0.00706
|
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val)
|
rs61548169
|
0.00705
|
NM_014363.6(SACS):c.5502G>C (p.Leu1834=)
|
rs34389000
|
0.00705
|
NM_014363.6(SACS):c.8127A>C (p.Lys2709Asn)
|
rs78827970
|
0.00691
|
NM_014363.6(SACS):c.4188C>T (p.His1396=)
|
rs61754477
|
0.00688
|
NM_014363.6(SACS):c.6267G>A (p.Ser2089=)
|
rs9550956
|
0.00688
|
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn)
|
rs35865691
|
0.00562
|
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met)
|
rs35256065
|
0.00558
|
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser)
|
rs78239814
|
0.00525
|
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
|
rs147099630
|
0.00521
|
NM_014363.6(SACS):c.1593C>T (p.Ile531=)
|
rs113756713
|
0.00513
|
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)
|
rs146722795
|
0.00506
|
NM_014363.6(SACS):c.12597A>G (p.Pro4199=)
|
rs112630127
|
0.00451
|
NM_014363.6(SACS):c.11688G>A (p.Arg3896=)
|
rs116791509
|
0.00448
|
NM_014363.6(SACS):c.10821C>A (p.Ile3607=)
|
rs113595574
|
0.00447
|
NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser)
|
rs80132141
|
0.00343
|
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)
|
rs111540787
|
0.00332
|
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)
|
rs34382952
|
0.00326
|
NM_014363.6(SACS):c.3129A>G (p.Ser1043=)
|
rs148878361
|
0.00292
|
NM_014363.6(SACS):c.9846A>G (p.Pro3282=)
|
rs61753111
|
0.00281
|
NM_014363.6(SACS):c.5307T>C (p.His1769=)
|
rs145747008
|
0.00264
|
NM_014363.6(SACS):c.2721G>A (p.Leu907=)
|
rs140118958
|
0.00255
|
NM_014363.6(SACS):c.10611A>G (p.Ala3537=)
|
rs137856939
|
0.00236
|
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)
|
rs61729954
|
0.00227
|
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)
|
rs36061856
|
0.00198
|
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)
|
rs146451611
|
0.00197
|
NM_014363.6(SACS):c.7737G>A (p.Lys2579=)
|
rs139279302
|
0.00192
|
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)
|
rs140551762
|
0.00178
|
NM_014363.6(SACS):c.2988A>G (p.Leu996=)
|
rs111846884
|
0.00170
|
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg)
|
rs147317123
|
0.00168
|
NM_014363.6(SACS):c.810T>G (p.Phe270Leu)
|
rs116907814
|
0.00149
|
NM_014363.6(SACS):c.2983G>T (p.Val995Phe)
|
rs142967124
|
0.00134
|
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr)
|
rs111920492
|
0.00131
|
NM_014363.6(SACS):c.2185+16A>G
|
rs368628225
|
0.00113
|
NM_014363.6(SACS):c.13374C>T (p.Phe4458=)
|
rs148914536
|
0.00111
|
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=)
|
rs140034972
|
0.00109
|
NM_014363.6(SACS):c.4015A>C (p.Ile1339Leu)
|
rs143144795
|
0.00099
|
NM_014363.6(SACS):c.9852A>G (p.Thr3284=)
|
rs147506904
|
0.00099
|
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile)
|
rs150981983
|
0.00097
|
NM_014363.6(SACS):c.1378C>T (p.Leu460Phe)
|
rs145213666
|
0.00091
|
NM_014363.6(SACS):c.12813T>G (p.Pro4271=)
|
rs146376949
|
0.00087
|
NM_014363.6(SACS):c.1917A>G (p.Ala639=)
|
rs138457742
|
0.00084
|
NM_014363.6(SACS):c.8972G>A (p.Arg2991His)
|
rs192610957
|
0.00084
|
NM_014363.6(SACS):c.10972C>T (p.Arg3658Trp)
|
rs115155117
|
0.00078
|
NM_014363.6(SACS):c.1374A>G (p.Thr458=)
|
rs149129638
|
0.00076
|
NM_014363.6(SACS):c.2146C>T (p.His716Tyr)
|
rs146852400
|
0.00075
|
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr)
|
rs149638449
|
0.00071
|
NM_014363.6(SACS):c.10668G>A (p.Leu3556=)
|
rs139517699
|
0.00070
|
NM_014363.6(SACS):c.2234G>A (p.Arg745His)
|
rs143677534
|
0.00067
|
NM_014363.6(SACS):c.13344C>T (p.Arg4448=)
|
rs200157359
|
0.00061
|
NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu)
|
rs147013767
|
0.00060
|
NM_014363.6(SACS):c.7165G>A (p.Val2389Met)
|
rs142869943
|
0.00056
|
NM_014363.6(SACS):c.2186-4A>G
|
rs371866995
|
0.00054
|
NM_014363.6(SACS):c.4985C>T (p.Thr1662Met)
|
rs139387396
|
0.00054
|
NM_014363.6(SACS):c.260-9G>A
|
rs376676263
|
0.00048
|
NM_014363.6(SACS):c.10443C>G (p.Leu3481=)
|
rs144087359
|
0.00047
|
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys)
|
rs143433500
|
0.00043
|
NM_014363.6(SACS):c.3637T>C (p.Leu1213=)
|
rs577638741
|
0.00043
|
NM_014363.6(SACS):c.2602A>G (p.Ile868Val)
|
rs142284018
|
0.00040
|
NM_014363.6(SACS):c.1278A>T (p.Leu426Phe)
|
rs138413501
|
0.00036
|
NM_014363.6(SACS):c.3144A>G (p.Val1048=)
|
rs3751369
|
0.00035
|
NM_014363.6(SACS):c.3828A>G (p.Pro1276=)
|
rs369988818
|
0.00035
|
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr)
|
rs190617851
|
0.00032
|
NM_014363.6(SACS):c.5583G>C (p.Trp1861Cys)
|
rs140678034
|
0.00032
|
NM_014363.6(SACS):c.7725A>T (p.Ile2575=)
|
rs200735789
|
0.00032
|
NM_014363.6(SACS):c.10008A>G (p.Lys3336=)
|
rs148971954
|
0.00031
|
NM_014363.6(SACS):c.2580A>G (p.Gln860=)
|
rs41283958
|
0.00031
|
NM_014363.6(SACS):c.439G>C (p.Asp147His)
|
rs202226274
|
0.00031
|
NM_014363.6(SACS):c.11385T>G (p.Ala3795=)
|
rs148605896
|
0.00030
|
NM_014363.6(SACS):c.3042A>G (p.Leu1014=)
|
rs141982796
|
0.00030
|
NM_014363.6(SACS):c.2929C>T (p.Leu977=)
|
rs146296924
|
0.00029
|
NM_014363.6(SACS):c.7049A>G (p.Glu2350Gly)
|
rs141091294
|
0.00029
|
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu)
|
rs137905181
|
0.00029
|
NM_014363.6(SACS):c.12438G>A (p.Ser4146=)
|
rs150959878
|
0.00026
|
NM_014363.6(SACS):c.1273C>A (p.Pro425Thr)
|
rs142024534
|
0.00026
|
NM_014363.6(SACS):c.3443A>C (p.Lys1148Thr)
|
rs140028127
|
0.00026
|
NM_014363.6(SACS):c.2806C>A (p.Gln936Lys)
|
rs61978562
|
0.00024
|
NM_014363.6(SACS):c.8577C>T (p.His2859=)
|
rs140016265
|
0.00024
|
NM_014363.6(SACS):c.1884C>T (p.Pro628=)
|
rs144468379
|
0.00023
|
NM_014363.6(SACS):c.1519A>G (p.Thr507Ala)
|
rs372022664
|
0.00022
|
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr)
|
rs147949881
|
0.00022
|
NM_014363.6(SACS):c.973G>A (p.Gly325Arg)
|
rs144303334
|
0.00021
|
NM_014363.6(SACS):c.7200T>C (p.Phe2400=)
|
rs148544893
|
0.00020
|
NM_014363.6(SACS):c.9275A>T (p.Tyr3092Phe)
|
rs139579036
|
0.00020
|
NM_014363.6(SACS):c.9778G>C (p.Asp3260His)
|
rs148545339
|
0.00020
|
NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser)
|
rs201558584
|
0.00019
|
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys)
|
rs61754478
|
0.00019
|
NM_014363.6(SACS):c.7647T>G (p.Leu2549=)
|
rs186301471
|
0.00019
|
NM_014363.6(SACS):c.9333T>C (p.Asn3111=)
|
rs150532740
|
0.00019
|
NM_014363.6(SACS):c.11928T>C (p.Ser3976=)
|
rs145680118
|
0.00017
|
NM_014363.6(SACS):c.2492A>G (p.Glu831Gly)
|
rs375968367
|
0.00017
|
NM_014363.6(SACS):c.3282C>T (p.Asn1094=)
|
rs145499245
|
0.00017
|
NM_014363.6(SACS):c.6084A>T (p.Glu2028Asp)
|
rs149018756
|
0.00017
|
NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys)
|
rs138379074
|
0.00017
|
NM_014363.6(SACS):c.11703T>C (p.Asn3901=)
|
rs146154135
|
0.00016
|
NM_014363.6(SACS):c.12765G>A (p.Arg4255=)
|
rs139692779
|
0.00016
|
NM_014363.6(SACS):c.13272C>T (p.Ala4424=)
|
rs567495567
|
0.00016
|
NM_014363.6(SACS):c.1444C>G (p.Leu482Val)
|
rs141487769
|
0.00016
|
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr)
|
rs76872266
|
0.00016
|
NM_014363.6(SACS):c.4302A>G (p.Leu1434=)
|
rs34559250
|
0.00016
|
NM_014363.6(SACS):c.6576C>T (p.Ile2192=)
|
rs145327845
|
0.00016
|
NM_014363.6(SACS):c.10298C>T (p.Thr3433Ile)
|
rs200991790
|
0.00015
|
NM_014363.6(SACS):c.1311G>A (p.Thr437=)
|
rs140671039
|
0.00015
|
NM_014363.6(SACS):c.3345C>T (p.Val1115=)
|
rs143287019
|
0.00015
|
NM_014363.6(SACS):c.11048A>G (p.Asn3683Ser)
|
rs138609508
|
0.00014
|
NM_014363.6(SACS):c.2329T>C (p.Ser777Pro)
|
rs147837803
|
0.00014
|
NM_014363.6(SACS):c.5826C>T (p.Tyr1942=)
|
rs759326217
|
0.00014
|
NM_014363.6(SACS):c.9299C>A (p.Ser3100Tyr)
|
rs150615169
|
0.00014
|
NM_014363.6(SACS):c.1219C>A (p.Leu407Ile)
|
rs201569239
|
0.00013
|
NM_014363.6(SACS):c.2175C>G (p.Ala725=)
|
rs756363296
|
0.00013
|
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val)
|
rs186436335
|
0.00013
|
NM_014363.6(SACS):c.9399A>G (p.Lys3133=)
|
rs762665640
|
0.00013
|
NM_014363.6(SACS):c.1081A>G (p.Lys361Glu)
|
rs377027736
|
0.00012
|
NM_014363.6(SACS):c.12647A>G (p.Asp4216Gly)
|
rs550068559
|
0.00012
|
NM_014363.6(SACS):c.2294A>G (p.Tyr765Cys)
|
rs141553858
|
0.00012
|
NM_014363.6(SACS):c.3414T>C (p.Asn1138=)
|
rs146431793
|
0.00012
|
NM_014363.6(SACS):c.3423G>A (p.Leu1141=)
|
rs184541898
|
0.00012
|
NM_014363.6(SACS):c.4998A>G (p.Thr1666=)
|
rs184994682
|
0.00012
|
NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn)
|
rs144715822
|
0.00012
|
NM_014363.6(SACS):c.7641A>G (p.Lys2547=)
|
rs780021681
|
0.00012
|
NM_014363.6(SACS):c.10076C>T (p.Thr3359Ile)
|
rs368089670
|
0.00011
|
NM_014363.6(SACS):c.1033C>T (p.Arg345Trp)
|
rs776156836
|
0.00011
|
NM_014363.6(SACS):c.12018G>A (p.Leu4006=)
|
rs774074913
|
0.00011
|
NM_014363.6(SACS):c.12451C>T (p.Leu4151=)
|
rs780701057
|
0.00011
|
NM_014363.6(SACS):c.13014T>C (p.Pro4338=)
|
rs374410231
|
0.00011
|
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn)
|
rs372359781
|
0.00011
|
NM_014363.6(SACS):c.2681C>T (p.Ser894Leu)
|
rs201857647
|
0.00011
|
NM_014363.6(SACS):c.4689G>A (p.Val1563=)
|
rs574231650
|
0.00011
|
NM_014363.6(SACS):c.4900G>C (p.Glu1634Gln)
|
rs143961484
|
0.00011
|
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met)
|
rs200810800
|
0.00011
|
NM_014363.6(SACS):c.5841C>T (p.Pro1947=)
|
rs145371235
|
0.00011
|
NM_014363.6(SACS):c.5903C>T (p.Ala1968Val)
|
rs201866523
|
0.00011
|
NM_014363.6(SACS):c.591C>T (p.Val197=)
|
rs750923640
|
0.00011
|
NM_014363.6(SACS):c.7288G>A (p.Glu2430Lys)
|
rs201798841
|
0.00011
|
NM_014363.6(SACS):c.11244A>G (p.Val3748=)
|
rs757808619
|
0.00010
|
NM_014363.6(SACS):c.1464G>A (p.Pro488=)
|
rs375352514
|
0.00010
|
NM_014363.6(SACS):c.2409C>T (p.Ile803=)
|
rs146198963
|
0.00010
|
NM_014363.6(SACS):c.2494T>C (p.Ser832Pro)
|
rs549957998
|
0.00010
|
NM_014363.6(SACS):c.2643G>C (p.Glu881Asp)
|
rs200517685
|
0.00010
|
NM_014363.6(SACS):c.5112C>T (p.Asn1704=)
|
rs150065076
|
0.00010
|
NM_014363.6(SACS):c.5368G>A (p.Ala1790Thr)
|
rs147517201
|
0.00010
|
NM_014363.6(SACS):c.5625T>C (p.Pro1875=)
|
rs1241658594
|
0.00010
|
NM_014363.6(SACS):c.5790C>T (p.Asp1930=)
|
rs137910940
|
0.00010
|
NM_014363.6(SACS):c.10221A>G (p.Leu3407=)
|
rs143243372
|
0.00009
|
NM_014363.6(SACS):c.12260A>G (p.Tyr4087Cys)
|
rs373478772
|
0.00009
|
NM_014363.6(SACS):c.1255A>G (p.Ile419Val)
|
rs767818359
|
0.00009
|
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu)
|
rs375875022
|
0.00009
|
NM_014363.6(SACS):c.2040C>T (p.Ser680=)
|
rs142115704
|
0.00009
|
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr)
|
rs371869943
|
0.00009
|
NM_014363.6(SACS):c.5744A>G (p.His1915Arg)
|
rs144822691
|
0.00009
|
NM_014363.6(SACS):c.9610A>G (p.Lys3204Glu)
|
rs200288861
|
0.00009
|
NM_014363.6(SACS):c.1026A>T (p.Lys342Asn)
|
rs190623423
|
0.00008
|
NM_014363.6(SACS):c.10482A>G (p.Leu3494=)
|
rs149643158
|
0.00008
|
NM_014363.6(SACS):c.10981G>A (p.Ala3661Thr)
|
rs760466234
|
0.00008
|
NM_014363.6(SACS):c.11780C>T (p.Ala3927Val)
|
rs142926244
|
0.00008
|
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys)
|
rs749383532
|
0.00008
|
NM_014363.6(SACS):c.13735G>A (p.Val4579Met)
|
rs571999908
|
0.00008
|
NM_014363.6(SACS):c.1912T>G (p.Cys638Gly)
|
rs200333323
|
0.00008
|
NM_014363.6(SACS):c.279G>A (p.Thr93=)
|
rs373415912
|
0.00008
|
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu)
|
rs747676277
|
0.00008
|
NM_014363.6(SACS):c.9246T>C (p.Cys3082=)
|
rs199696650
|
0.00008
|
NM_014363.6(SACS):c.10909A>G (p.Met3637Val)
|
rs150309559
|
0.00007
|
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln)
|
rs148925505
|
0.00007
|
NM_014363.6(SACS):c.12582T>C (p.Tyr4194=)
|
rs1002489210
|
0.00007
|
NM_014363.6(SACS):c.175T>A (p.Ser59Thr)
|
rs539836931
|
0.00007
|
NM_014363.6(SACS):c.3975G>A (p.Glu1325=)
|
rs547483320
|
0.00007
|
NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys)
|
rs375805688
|
0.00007
|
NM_014363.6(SACS):c.6178G>C (p.Val2060Leu)
|
rs373226693
|
0.00007
|
NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu)
|
rs370095300
|
0.00007
|
NM_014363.6(SACS):c.8482A>G (p.Ser2828Gly)
|
rs9552930
|
0.00007
|
NM_014363.6(SACS):c.8646T>C (p.His2882=)
|
rs374508473
|
0.00007
|
NM_014363.6(SACS):c.9791C>G (p.Thr3264Arg)
|
rs758563983
|
0.00007
|
NM_014363.6(SACS):c.10042T>C (p.Leu3348=)
|
rs529925586
|
0.00006
|
NM_014363.6(SACS):c.10047A>G (p.Ser3349=)
|
rs138909482
|
0.00006
|
NM_014363.6(SACS):c.10709T>C (p.Ile3570Thr)
|
rs763440838
|
0.00006
|
NM_014363.6(SACS):c.10790A>G (p.Gln3597Arg)
|
rs1299454627
|
0.00006
|
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr)
|
rs201505036
|
0.00006
|
NM_014363.6(SACS):c.11091C>T (p.Leu3697=)
|
rs369430972
|
0.00006
|
NM_014363.6(SACS):c.11717C>T (p.Ala3906Val)
|
rs375961779
|
0.00006
|
NM_014363.6(SACS):c.11746T>C (p.Leu3916=)
|
rs370087920
|
0.00006
|
NM_014363.6(SACS):c.11781G>A (p.Ala3927=)
|
rs369998705
|
0.00006
|
NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr)
|
rs200707453
|
0.00006
|
NM_014363.6(SACS):c.12216T>A (p.Thr4072=)
|
rs574182225
|
0.00006
|
NM_014363.6(SACS):c.12854G>A (p.Ser4285Asn)
|
rs371935764
|
0.00006
|
NM_014363.6(SACS):c.13106A>G (p.Asp4369Gly)
|
rs770895110
|
0.00006
|
NM_014363.6(SACS):c.1881G>A (p.Thr627=)
|
rs148398102
|
0.00006
|
NM_014363.6(SACS):c.2024A>G (p.Asn675Ser)
|
rs146395198
|
0.00006
|
NM_014363.6(SACS):c.2487C>T (p.Asp829=)
|
rs151198216
|
0.00006
|
NM_014363.6(SACS):c.2551G>T (p.Val851Phe)
|
rs756890722
|
0.00006
|
NM_014363.6(SACS):c.2776A>G (p.Ile926Val)
|
rs144362131
|
0.00006
|
NM_014363.6(SACS):c.2788A>G (p.Ile930Val)
|
rs886050088
|
0.00006
|
NM_014363.6(SACS):c.3768C>T (p.Tyr1256=)
|
rs200350631
|
0.00006
|
NM_014363.6(SACS):c.4244C>T (p.Ser1415Phe)
|
rs756436405
|
0.00006
|
NM_014363.6(SACS):c.432G>T (p.Trp144Cys)
|
rs368570790
|
0.00006
|
NM_014363.6(SACS):c.446C>T (p.Ala149Val)
|
rs370474035
|
0.00006
|
NM_014363.6(SACS):c.4743C>T (p.Phe1581=)
|
rs143310473
|
0.00006
|
NM_014363.6(SACS):c.5529G>C (p.Leu1843=)
|
rs148091738
|
0.00006
|
NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu)
|
rs755723511
|
0.00006
|
NM_014363.6(SACS):c.6889T>C (p.Leu2297=)
|
rs762976734
|
0.00006
|
NM_014363.6(SACS):c.8424T>C (p.Thr2808=)
|
rs149961028
|
0.00006
|
NM_014363.6(SACS):c.8579A>G (p.Asn2860Ser)
|
rs201294520
|
0.00006
|
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser)
|
rs371019314
|
0.00006
|
NM_014363.6(SACS):c.954A>G (p.Leu318=)
|
rs147412202
|
0.00006
|
NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys)
|
rs143557803
|
0.00006
|
NM_014363.6(SACS):c.9551G>A (p.Arg3184His)
|
rs200453385
|
0.00006
|
NM_014363.6(SACS):c.9903G>T (p.Leu3301=)
|
rs563145604
|
0.00006
|
NM_014363.6(SACS):c.10980C>T (p.Pro3660=)
|
rs141353693
|
0.00005
|
NM_014363.6(SACS):c.11363G>A (p.Arg3788His)
|
rs147369196
|
0.00005
|
NM_014363.6(SACS):c.1152T>G (p.Thr384=)
|
rs185643322
|
0.00005
|
NM_014363.6(SACS):c.11763C>T (p.Ile3921=)
|
rs749093421
|
0.00005
|
NM_014363.6(SACS):c.11884A>T (p.Ile3962Leu)
|
rs746953932
|
0.00005
|
NM_014363.6(SACS):c.1202G>A (p.Arg401Gln)
|
rs749599838
|
0.00005
|
NM_014363.6(SACS):c.12744T>C (p.Pro4248=)
|
rs369378277
|
0.00005
|
NM_014363.6(SACS):c.13039A>G (p.Ile4347Val)
|
rs200939906
|
0.00005
|
NM_014363.6(SACS):c.1613C>T (p.Ala538Val)
|
rs368043113
|
0.00005
|
NM_014363.6(SACS):c.2454T>C (p.Ile818=)
|
rs370677124
|
0.00005
|
NM_014363.6(SACS):c.3729A>G (p.Glu1243=)
|
rs756663705
|
0.00005
|
NM_014363.6(SACS):c.396A>G (p.Leu132=)
|
rs1256540997
|
0.00005
|
NM_014363.6(SACS):c.4362A>G (p.Ser1454=)
|
rs748395013
|
0.00005
|
NM_014363.6(SACS):c.447G>A (p.Ala149=)
|
rs145681117
|
0.00005
|
NM_014363.6(SACS):c.5147A>G (p.Lys1716Arg)
|
rs199998045
|
0.00005
|
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys)
|
rs754033201
|
0.00005
|
NM_014363.6(SACS):c.7042C>T (p.Leu2348=)
|
rs919827837
|
0.00005
|
NM_014363.6(SACS):c.7614A>C (p.Ala2538=)
|
rs142697365
|
0.00005
|
NM_014363.6(SACS):c.10098T>C (p.His3366=)
|
rs150213486
|
0.00004
|
NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile)
|
rs200591364
|
0.00004
|
NM_014363.6(SACS):c.10119A>G (p.Thr3373=)
|
rs202084381
|
0.00004
|
NM_014363.6(SACS):c.10256G>A (p.Arg3419His)
|
rs536675517
|
0.00004
|
NM_014363.6(SACS):c.10438C>T (p.His3480Tyr)
|
rs761189797
|
0.00004
|
NM_014363.6(SACS):c.10497C>T (p.Tyr3499=)
|
rs755186798
|
0.00004
|
NM_014363.6(SACS):c.10576A>G (p.Ile3526Val)
|
rs199881455
|
0.00004
|
NM_014363.6(SACS):c.10983G>A (p.Ala3661=)
|
rs200900703
|
0.00004
|
NM_014363.6(SACS):c.11049T>C (p.Asn3683=)
|
rs773770705
|
0.00004
|
NM_014363.6(SACS):c.11161G>A (p.Gly3721Ser)
|
rs780789569
|
0.00004
|
NM_014363.6(SACS):c.11276C>T (p.Thr3759Met)
|
rs751176093
|
0.00004
|
NM_014363.6(SACS):c.11301A>T (p.Lys3767Asn)
|
rs762041995
|
0.00004
|
NM_014363.6(SACS):c.11327T>C (p.Ile3776Thr)
|
rs145188410
|
0.00004
|
NM_014363.6(SACS):c.11576G>A (p.Arg3859His)
|
rs149427669
|
0.00004
|
NM_014363.6(SACS):c.11655C>T (p.Phe3885=)
|
rs780904104
|
0.00004
|
NM_014363.6(SACS):c.1224C>T (p.Asp408=)
|
rs2274386
|
0.00004
|
NM_014363.6(SACS):c.12297G>T (p.Leu4099=)
|
rs200793339
|
0.00004
|
NM_014363.6(SACS):c.12367A>G (p.Met4123Val)
|
rs772068772
|
0.00004
|
NM_014363.6(SACS):c.1259T>C (p.Ile420Thr)
|
rs761791412
|
0.00004
|
NM_014363.6(SACS):c.12968C>T (p.Ser4323Leu)
|
rs150225486
|
0.00004
|
NM_014363.6(SACS):c.12969G>A (p.Ser4323=)
|
rs745807927
|
0.00004
|
NM_014363.6(SACS):c.1297G>C (p.Ala433Pro)
|
rs770677319
|
0.00004
|
NM_014363.6(SACS):c.13443C>G (p.Thr4481=)
|
rs201439638
|
0.00004
|
NM_014363.6(SACS):c.13732A>T (p.Lys4578Ter)
|
rs916523887
|
0.00004
|
NM_014363.6(SACS):c.1387C>A (p.His463Asn)
|
rs149951538
|
0.00004
|
NM_014363.6(SACS):c.1640C>T (p.Pro547Leu)
|
rs140507581
|
0.00004
|
NM_014363.6(SACS):c.1641G>A (p.Pro547=)
|
rs370143541
|
0.00004
|
NM_014363.6(SACS):c.1791A>T (p.Ser597=)
|
rs371175405
|
0.00004
|
NM_014363.6(SACS):c.1815A>G (p.Pro605=)
|
rs377649927
|
0.00004
|
NM_014363.6(SACS):c.1905G>A (p.Leu635=)
|
rs771581634
|
0.00004
|
NM_014363.6(SACS):c.1913G>A (p.Cys638Tyr)
|
rs778572943
|
0.00004
|
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)
|
rs775059063
|
0.00004
|
NM_014363.6(SACS):c.2597A>G (p.Lys866Arg)
|
rs761960824
|
0.00004
|
NM_014363.6(SACS):c.2653T>C (p.Leu885=)
|
rs202075357
|
0.00004
|
NM_014363.6(SACS):c.2927G>A (p.Arg976His)
|
rs751415868
|
0.00004
|
NM_014363.6(SACS):c.321T>C (p.Tyr107=)
|
rs370370098
|
0.00004
|
NM_014363.6(SACS):c.346-3T>A
|
rs186506382
|
0.00004
|
NM_014363.6(SACS):c.3551C>G (p.Pro1184Arg)
|
rs374961109
|
0.00004
|
NM_014363.6(SACS):c.3771A>T (p.Gly1257=)
|
rs761920446
|
0.00004
|
NM_014363.6(SACS):c.3825T>C (p.Phe1275=)
|
rs371761945
|
0.00004
|
NM_014363.6(SACS):c.4050A>G (p.Gln1350=)
|
rs756014483
|
0.00004
|
NM_014363.6(SACS):c.4255A>G (p.Ile1419Val)
|
rs138245586
|
0.00004
|
NM_014363.6(SACS):c.458-17C>T
|
rs765491872
|
0.00004
|
NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln)
|
rs764992284
|
0.00004
|
NM_014363.6(SACS):c.5274C>T (p.Cys1758=)
|
rs201982449
|
0.00004
|
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg)
|
rs376680832
|
0.00004
|
NM_014363.6(SACS):c.5832A>G (p.Ala1944=)
|
rs374169472
|
0.00004
|
NM_014363.6(SACS):c.5971G>A (p.Val1991Ile)
|
rs191995849
|
0.00004
|
NM_014363.6(SACS):c.6030G>T (p.Lys2010Asn)
|
rs769751841
|
0.00004
|
NM_014363.6(SACS):c.6095C>T (p.Ser2032Leu)
|
rs551141655
|
0.00004
|
NM_014363.6(SACS):c.6409C>G (p.Gln2137Glu)
|
rs201690040
|
0.00004
|
NM_014363.6(SACS):c.6447T>C (p.Val2149=)
|
rs373110459
|
0.00004
|
NM_014363.6(SACS):c.6496C>T (p.Arg2166Cys)
|
rs764516788
|
0.00004
|
NM_014363.6(SACS):c.6561C>T (p.Ile2187=)
|
rs143477126
|
0.00004
|
NM_014363.6(SACS):c.6879T>C (p.Val2293=)
|
rs761370882
|
0.00004
|
NM_014363.6(SACS):c.7147C>T (p.Arg2383Cys)
|
rs772611372
|
0.00004
|
NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys)
|
rs762896797
|
0.00004
|
NM_014363.6(SACS):c.7449T>C (p.Tyr2483=)
|
rs755218751
|
0.00004
|
NM_014363.6(SACS):c.7650T>G (p.Leu2550=)
|
rs764887405
|
0.00004
|
NM_014363.6(SACS):c.7989C>T (p.Pro2663=)
|
rs766086455
|
0.00004
|
NM_014363.6(SACS):c.8192G>A (p.Arg2731His)
|
rs201127191
|
0.00004
|
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala)
|
rs763504656
|
0.00004
|
NM_014363.6(SACS):c.8336A>T (p.Gln2779Leu)
|
rs749327297
|
0.00004
|
NM_014363.6(SACS):c.8450C>T (p.Thr2817Met)
|
rs371652968
|
0.00004
|
NM_014363.6(SACS):c.8634G>C (p.Gly2878=)
|
rs745677991
|
0.00004
|
NM_014363.6(SACS):c.9031A>G (p.Ile3011Val)
|
rs377657177
|
0.00004
|
NM_014363.6(SACS):c.9090A>G (p.Leu3030=)
|
rs754628665
|
0.00004
|
NM_014363.6(SACS):c.9251T>C (p.Ile3084Thr)
|
rs149290718
|
0.00004
|
NM_014363.6(SACS):c.9378A>G (p.Leu3126=)
|
rs749919322
|
0.00004
|
NM_014363.6(SACS):c.9788A>G (p.Glu3263Gly)
|
rs369713918
|
0.00004
|
NM_014363.6(SACS):c.9947A>C (p.Gln3316Pro)
|
rs775506976
|
0.00004
|
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser)
|
rs375898103
|
0.00003
|
NM_014363.6(SACS):c.10205A>G (p.Asp3402Gly)
|
rs543563990
|
0.00003
|
NM_014363.6(SACS):c.10255C>T (p.Arg3419Cys)
|
rs765758197
|
0.00003
|
NM_014363.6(SACS):c.10268T>C (p.Ile3423Thr)
|
rs767281295
|
0.00003
|
NM_014363.6(SACS):c.10620C>T (p.Phe3540=)
|
rs192339917
|
0.00003
|
NM_014363.6(SACS):c.10675C>G (p.Pro3559Ala)
|
rs767704103
|
0.00003
|
NM_014363.6(SACS):c.10787C>T (p.Ser3596Phe)
|
rs755172172
|
0.00003
|
NM_014363.6(SACS):c.11280G>A (p.Thr3760=)
|
rs193116488
|
0.00003
|
NM_014363.6(SACS):c.11309C>G (p.Ala3770Gly)
|
rs1170997950
|
0.00003
|
NM_014363.6(SACS):c.11343T>C (p.Ser3781=)
|
rs372697823
|
0.00003
|
NM_014363.6(SACS):c.12665G>A (p.Gly4222Glu)
|
rs774349752
|
0.00003
|
NM_014363.6(SACS):c.12909A>G (p.Leu4303=)
|
rs766310291
|
0.00003
|
NM_014363.6(SACS):c.13338A>G (p.Glu4446=)
|
rs776796928
|
0.00003
|
NM_014363.6(SACS):c.13621T>A (p.Leu4541Met)
|
rs769260277
|
0.00003
|
NM_014363.6(SACS):c.1797G>A (p.Lys599=)
|
rs746842075
|
0.00003
|
NM_014363.6(SACS):c.1886C>T (p.Ala629Val)
|
rs760505057
|
0.00003
|
NM_014363.6(SACS):c.1887G>T (p.Ala629=)
|
rs772895627
|
0.00003
|
NM_014363.6(SACS):c.1906C>T (p.Arg636Trp)
|
rs201752905
|
0.00003
|
NM_014363.6(SACS):c.1941G>T (p.Lys647Asn)
|
rs201021919
|
0.00003
|
NM_014363.6(SACS):c.2460C>T (p.Leu820=)
|
rs761330691
|
0.00003
|
NM_014363.6(SACS):c.259+9T>C
|
rs780820263
|
0.00003
|
NM_014363.6(SACS):c.260-10C>T
|
rs746220432
|
0.00003
|
NM_014363.6(SACS):c.2853C>A (p.His951Gln)
|
rs200644511
|
0.00003
|
NM_014363.6(SACS):c.3105A>G (p.Thr1035=)
|
rs1176829935
|
0.00003
|
NM_014363.6(SACS):c.3393C>T (p.Leu1131=)
|
rs543758739
|
0.00003
|
NM_014363.6(SACS):c.345+14C>T
|
rs538944334
|
0.00003
|
NM_014363.6(SACS):c.4098G>C (p.Leu1366=)
|
rs200381539
|
0.00003
|
NM_014363.6(SACS):c.4318A>G (p.Ser1440Gly)
|
rs1172044277
|
0.00003
|
NM_014363.6(SACS):c.4419A>C (p.Ser1473=)
|
rs375061528
|
0.00003
|
NM_014363.6(SACS):c.5169A>G (p.Ala1723=)
|
rs200699984
|
0.00003
|
NM_014363.6(SACS):c.5458C>T (p.Leu1820=)
|
rs754748296
|
0.00003
|
NM_014363.6(SACS):c.552T>G (p.Pro184=)
|
rs140637560
|
0.00003
|
NM_014363.6(SACS):c.5842G>A (p.Asp1948Asn)
|
rs772515267
|
0.00003
|
NM_014363.6(SACS):c.5946A>G (p.Gly1982=)
|
rs746358078
|
0.00003
|
NM_014363.6(SACS):c.6135A>T (p.Ile2045=)
|
rs532996087
|
0.00003
|
NM_014363.6(SACS):c.6728C>T (p.Thr2243Ile)
|
rs749102723
|
0.00003
|
NM_014363.6(SACS):c.6750T>C (p.His2250=)
|
rs771083587
|
0.00003
|
NM_014363.6(SACS):c.7101G>A (p.Ala2367=)
|
rs764702321
|
0.00003
|
NM_014363.6(SACS):c.7431G>C (p.Lys2477Asn)
|
rs745795861
|
0.00003
|
NM_014363.6(SACS):c.7497C>T (p.Val2499=)
|
rs774558627
|
0.00003
|
NM_014363.6(SACS):c.7632A>G (p.Glu2544=)
|
rs752179231
|
0.00003
|
NM_014363.6(SACS):c.7824A>G (p.Gly2608=)
|
rs765747016
|
0.00003
|
NM_014363.6(SACS):c.789C>T (p.Asn263=)
|
rs771920263
|
0.00003
|
NM_014363.6(SACS):c.7968A>C (p.Pro2656=)
|
rs748718131
|
0.00003
|
NM_014363.6(SACS):c.8142G>A (p.Ser2714=)
|
rs530250252
|
0.00003
|
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val)
|
rs760976439
|
0.00003
|
NM_014363.6(SACS):c.8693G>A (p.Arg2898His)
|
rs201977288
|
0.00003
|
NM_014363.6(SACS):c.8990G>A (p.Arg2997Gln)
|
rs139670073
|
0.00003
|
NM_014363.6(SACS):c.9283C>G (p.Pro3095Ala)
|
rs201899988
|
0.00003
|
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)
|
rs202199411
|
0.00003
|
NM_014363.6(SACS):c.9887C>T (p.Pro3296Leu)
|
rs779195622
|
0.00003
|
NM_014363.6(SACS):c.1032G>A (p.Glu344=)
|
rs199890147
|
0.00002
|
NM_014363.6(SACS):c.10485G>A (p.Glu3495=)
|
rs757255802
|
0.00002
|
NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys)
|
rs747013127
|
0.00002
|
NM_014363.6(SACS):c.10659T>C (p.Pro3553=)
|
rs1161865880
|
0.00002
|
NM_014363.6(SACS):c.10824T>C (p.Ser3608=)
|
rs565066396
|
0.00002
|
NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser)
|
rs376188585
|
0.00002
|
NM_014363.6(SACS):c.11264T>C (p.Ile3755Thr)
|
rs781590547
|
0.00002
|
NM_014363.6(SACS):c.11302A>G (p.Thr3768Ala)
|
rs774463808
|
0.00002
|
NM_014363.6(SACS):c.11380G>T (p.Val3794Phe)
|
rs753844954
|
0.00002
|
NM_014363.6(SACS):c.11484A>G (p.Leu3828=)
|
rs747807250
|
0.00002
|
NM_014363.6(SACS):c.11664A>G (p.Leu3888=)
|
rs752876736
|
0.00002
|
NM_014363.6(SACS):c.11775C>T (p.Asp3925=)
|
rs779948707
|
0.00002
|
NM_014363.6(SACS):c.11776G>A (p.Asp3926Asn)
|
rs756252903
|
0.00002
|
NM_014363.6(SACS):c.12130G>C (p.Gly4044Arg)
|
rs753511073
|
0.00002
|
NM_014363.6(SACS):c.12282A>G (p.Lys4094=)
|
rs1405259528
|
0.00002
|
NM_014363.6(SACS):c.12G>A (p.Lys4=)
|
rs773980923
|
0.00002
|
NM_014363.6(SACS):c.1310C>T (p.Thr437Met)
|
rs199657817
|
0.00002
|
NM_014363.6(SACS):c.13152A>G (p.Ala4384=)
|
rs745989305
|
0.00002
|
NM_014363.6(SACS):c.13195A>G (p.Thr4399Ala)
|
rs764686360
|
0.00002
|
NM_014363.6(SACS):c.13694C>A (p.Ala4565Asp)
|
rs375722463
|
0.00002
|
NM_014363.6(SACS):c.1470C>A (p.Ala490=)
|
rs778987108
|
0.00002
|
NM_014363.6(SACS):c.1483T>A (p.Phe495Ile)
|
rs748972179
|
0.00002
|
NM_014363.6(SACS):c.1608G>A (p.Pro536=)
|
rs745730439
|
0.00002
|
NM_014363.6(SACS):c.1620A>G (p.Lys540=)
|
rs758634289
|
0.00002
|
NM_014363.6(SACS):c.1731C>G (p.Phe577Leu)
|
rs757746157
|
0.00002
|
NM_014363.6(SACS):c.1878G>T (p.Val626=)
|
rs374010041
|
0.00002
|
NM_014363.6(SACS):c.2037C>T (p.Phe679=)
|
rs748609446
|
0.00002
|
NM_014363.6(SACS):c.2361T>C (p.Tyr787=)
|
rs775295825
|
0.00002
|
NM_014363.6(SACS):c.2403A>G (p.Pro801=)
|
rs758503842
|
0.00002
|
NM_014363.6(SACS):c.2472G>A (p.Ser824=)
|
rs554395185
|
0.00002
|
NM_014363.6(SACS):c.2586G>A (p.Pro862=)
|
rs146383946
|
0.00002
|
NM_014363.6(SACS):c.2669A>G (p.Asn890Ser)
|
rs376902764
|
0.00002
|
NM_014363.6(SACS):c.2686C>T (p.Leu896Phe)
|
rs760556327
|
0.00002
|
NM_014363.6(SACS):c.2733C>T (p.Thr911=)
|
rs199702597
|
0.00002
|
NM_014363.6(SACS):c.2791A>T (p.Asn931Tyr)
|
rs190383030
|
0.00002
|
NM_014363.6(SACS):c.348A>G (p.Glu116=)
|
rs201206270
|
0.00002
|
NM_014363.6(SACS):c.3550C>T (p.Pro1184Ser)
|
rs200831217
|
0.00002
|
NM_014363.6(SACS):c.3552A>C (p.Pro1184=)
|
rs779784021
|
0.00002
|
NM_014363.6(SACS):c.414C>T (p.Tyr138=)
|
rs199474695
|
0.00002
|
NM_014363.6(SACS):c.4599A>C (p.Ser1533=)
|
rs1329953828
|
0.00002
|
NM_014363.6(SACS):c.4814G>C (p.Ser1605Thr)
|
rs770007806
|
0.00002
|
NM_014363.6(SACS):c.4878C>T (p.Gly1626=)
|
rs778664565
|
0.00002
|
NM_014363.6(SACS):c.4955A>G (p.Gln1652Arg)
|
rs148824690
|
0.00002
|
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile)
|
rs201724656
|
0.00002
|
NM_014363.6(SACS):c.5356G>A (p.Asp1786Asn)
|
rs763496360
|
0.00002
|
NM_014363.6(SACS):c.5415A>G (p.Ser1805=)
|
rs777239936
|
0.00002
|
NM_014363.6(SACS):c.5433A>G (p.Lys1811=)
|
rs1162334138
|
0.00002
|
NM_014363.6(SACS):c.5466T>C (p.Thr1822=)
|
rs757576348
|
0.00002
|
NM_014363.6(SACS):c.5526A>G (p.Gly1842=)
|
rs141827449
|
0.00002
|
NM_014363.6(SACS):c.5613T>C (p.Phe1871=)
|
rs755450922
|
0.00002
|
NM_014363.6(SACS):c.5630G>A (p.Arg1877Gln)
|
rs772866081
|
0.00002
|
NM_014363.6(SACS):c.5906A>G (p.His1969Arg)
|
rs776693219
|
0.00002
|
NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu)
|
rs747566710
|
0.00002
|
NM_014363.6(SACS):c.6201A>G (p.Glu2067=)
|
rs781124615
|
0.00002
|
NM_014363.6(SACS):c.6222T>C (p.Asp2074=)
|
rs751390197
|
0.00002
|
NM_014363.6(SACS):c.6240T>C (p.Val2080=)
|
rs550680855
|
0.00002
|
NM_014363.6(SACS):c.6348C>T (p.Pro2116=)
|
rs375619621
|
0.00002
|
NM_014363.6(SACS):c.6518T>C (p.Ile2173Thr)
|
rs368624188
|
0.00002
|
NM_014363.6(SACS):c.6593T>C (p.Ile2198Thr)
|
rs754906806
|
0.00002
|
NM_014363.6(SACS):c.7207G>C (p.Val2403Leu)
|
rs779973547
|
0.00002
|
NM_014363.6(SACS):c.7275A>G (p.Arg2425=)
|
rs761313165
|
0.00002
|
NM_014363.6(SACS):c.7281A>C (p.Ile2427=)
|
rs772383957
|
0.00002
|
NM_014363.6(SACS):c.7347C>A (p.Gly2449=)
|
rs531087357
|
0.00002
|
NM_014363.6(SACS):c.7354T>C (p.Leu2452=)
|
rs761258047
|
0.00002
|
NM_014363.6(SACS):c.7365T>C (p.Asp2455=)
|
rs773649898
|
0.00002
|
NM_014363.6(SACS):c.7395G>A (p.Ser2465=)
|
rs748990212
|
0.00002
|
NM_014363.6(SACS):c.7466C>A (p.Pro2489His)
|
rs766553685
|
0.00002
|
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)
|
rs281865118
|
0.00002
|
NM_014363.6(SACS):c.7758A>G (p.Pro2586=)
|
rs753034117
|
0.00002
|
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)
|
rs750732115
|
0.00002
|
NM_014363.6(SACS):c.8820A>G (p.Thr2940=)
|
rs370133588
|
0.00002
|
NM_014363.6(SACS):c.8948A>G (p.Asn2983Ser)
|
rs200106708
|
0.00002
|
NM_014363.6(SACS):c.8958C>T (p.His2986=)
|
rs758029668
|
0.00002
|
NM_014363.6(SACS):c.8971C>T (p.Arg2991Cys)
|
rs759112797
|
0.00002
|
NM_014363.6(SACS):c.9128A>G (p.Tyr3043Cys)
|
rs761690372
|
0.00002
|
NM_014363.6(SACS):c.927T>C (p.Phe309=)
|
rs1031190624
|
0.00002
|
NM_014363.6(SACS):c.9525A>G (p.Thr3175=)
|
rs369043814
|
0.00002
|
NM_014363.6(SACS):c.9531T>C (p.Tyr3177=)
|
rs746902834
|
0.00002
|
NM_014363.6(SACS):c.9654A>G (p.Leu3218=)
|
rs754783325
|
0.00002
|
NM_014363.6(SACS):c.9805G>A (p.Asp3269Asn)
|
rs754144089
|
0.00002
|
NM_014363.6(SACS):c.9927T>C (p.Ile3309=)
|
rs773836774
|
0.00002
|
NM_014363.6(SACS):c.1004C>T (p.Ser335Leu)
|
rs767435985
|
0.00001
|
NM_014363.6(SACS):c.1005G>A (p.Ser335=)
|
rs1260369962
|
0.00001
|
NM_014363.6(SACS):c.10096C>T (p.His3366Tyr)
|
rs1388546547
|
0.00001
|
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter)
|
rs1057517250
|
0.00001
|
NM_014363.6(SACS):c.10179C>T (p.Cys3393=)
|
rs1032774472
|
0.00001
|
NM_014363.6(SACS):c.10191T>C (p.His3397=)
|
rs1289389815
|
0.00001
|
NM_014363.6(SACS):c.10212A>T (p.Ile3404=)
|
rs1883635469
|
0.00001
|
NM_014363.6(SACS):c.10254C>T (p.Gly3418=)
|
rs139268069
|
0.00001
|
NM_014363.6(SACS):c.10260T>C (p.Tyr3420=)
|
rs1370239378
|
0.00001
|
NM_014363.6(SACS):c.10284A>G (p.Thr3428=)
|
rs1447212627
|
0.00001
|
NM_014363.6(SACS):c.10290C>T (p.Tyr3430=)
|
rs367735607
|
0.00001
|
NM_014363.6(SACS):c.1038G>A (p.Pro346=)
|
rs771344425
|
0.00001
|
NM_014363.6(SACS):c.10470T>C (p.Tyr3490=)
|
rs755590920
|
0.00001
|
NM_014363.6(SACS):c.10479A>G (p.Lys3493=)
|
rs61754476
|
0.00001
|
NM_014363.6(SACS):c.10542G>A (p.Lys3514=)
|
rs773384950
|
0.00001
|
NM_014363.6(SACS):c.10617T>C (p.His3539=)
|
rs778799757
|
0.00001
|
NM_014363.6(SACS):c.10686C>T (p.Phe3562=)
|
rs762161380
|
0.00001
|
NM_014363.6(SACS):c.10728T>C (p.Val3576=)
|
rs1883602063
|
0.00001
|
NM_014363.6(SACS):c.10731A>G (p.Thr3577=)
|
rs759287298
|
0.00001
|
NM_014363.6(SACS):c.10755C>T (p.Phe3585=)
|
rs772041823
|
0.00001
|
NM_014363.6(SACS):c.1083A>G (p.Lys361=)
|
rs755779338
|
0.00001
|
NM_014363.6(SACS):c.10859C>T (p.Thr3620Ile)
|
rs543646763
|
0.00001
|
NM_014363.6(SACS):c.10881C>T (p.Ile3627=)
|
rs576435320
|
0.00001
|
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)
|
rs780247476
|
0.00001
|
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln)
|
rs281865119
|
0.00001
|
NM_014363.6(SACS):c.10915T>C (p.Leu3639=)
|
rs755403408
|
0.00001
|
NM_014363.6(SACS):c.11037T>C (p.Leu3679=)
|
rs1883575247
|
0.00001
|
NM_014363.6(SACS):c.11116A>G (p.Ile3706Val)
|
rs748237614
|
0.00001
|
NM_014363.6(SACS):c.11150A>T (p.Lys3717Ile)
|
rs1883567634
|
0.00001
|
NM_014363.6(SACS):c.1119T>C (p.Tyr373=)
|
rs752597088
|
0.00001
|
NM_014363.6(SACS):c.11214T>C (p.Asn3738=)
|
rs776619164
|
0.00001
|
NM_014363.6(SACS):c.11221C>T (p.Leu3741=)
|
rs1190212363
|
0.00001
|
NM_014363.6(SACS):c.11337C>T (p.Phe3779=)
|
rs139689925
|
0.00001
|
NM_014363.6(SACS):c.11409G>T (p.Trp3803Cys)
|
rs886050075
|
0.00001
|
NM_014363.6(SACS):c.11416C>T (p.Leu3806=)
|
rs775539263
|
0.00001
|
NM_014363.6(SACS):c.11475G>A (p.Leu3825=)
|
rs773685284
|
0.00001
|
NM_014363.6(SACS):c.11532T>C (p.Thr3844=)
|
rs756128473
|
0.00001
|
NM_014363.6(SACS):c.11535A>G (p.Glu3845=)
|
rs750167647
|
0.00001
|
NM_014363.6(SACS):c.11565A>G (p.Glu3855=)
|
rs1422761558
|
0.00001
|
NM_014363.6(SACS):c.11604A>G (p.Gln3868=)
|
rs375025693
|
0.00001
|
NM_014363.6(SACS):c.1161A>T (p.Ala387=)
|
rs1870303680
|
0.00001
|
NM_014363.6(SACS):c.11684T>G (p.Val3895Gly)
|
rs766487632
|
0.00001
|
NM_014363.6(SACS):c.11697C>T (p.Leu3899=)
|
rs767957360
|
0.00001
|
NM_014363.6(SACS):c.11706A>G (p.Val3902=)
|
rs1317351655
|
0.00001
|
NM_014363.6(SACS):c.11707C>T (p.Arg3903Ter)
|
rs774906736
|
0.00001
|
NM_014363.6(SACS):c.11737G>C (p.Asp3913His)
|
rs746782589
|
0.00001
|
NM_014363.6(SACS):c.11738A>T (p.Asp3913Val)
|
rs1236705431
|
0.00001
|
NM_014363.6(SACS):c.11802C>T (p.Ile3934=)
|
rs762451306
|
0.00001
|
NM_014363.6(SACS):c.11838C>T (p.Leu3946=)
|
rs764611013
|
0.00001
|
NM_014363.6(SACS):c.11841C>T (p.Ser3947=)
|
rs759055631
|
0.00001
|
NM_014363.6(SACS):c.11877T>G (p.Thr3959=)
|
rs1382495342
|
0.00001
|
NM_014363.6(SACS):c.11887A>G (p.Met3963Val)
|
rs375613914
|
0.00001
|
NM_014363.6(SACS):c.1189_1190del (p.Ser397fs)
|
rs1057516625
|
0.00001
|
NM_014363.6(SACS):c.11910A>G (p.Arg3970=)
|
rs745932319
|
0.00001
|
NM_014363.6(SACS):c.11982G>A (p.Ala3994=)
|
rs780117352
|
0.00001
|
NM_014363.6(SACS):c.11983T>C (p.Leu3995=)
|
rs912497422
|
0.00001
|
NM_014363.6(SACS):c.11985G>A (p.Leu3995=)
|
rs1044929287
|
0.00001
|
NM_014363.6(SACS):c.1201C>T (p.Arg401Ter)
|
rs769212398
|
0.00001
|
NM_014363.6(SACS):c.12059A>G (p.Lys4020Arg)
|
rs1328721442
|
0.00001
|
NM_014363.6(SACS):c.12075T>G (p.Asn4025Lys)
|
rs778310483
|
0.00001
|
NM_014363.6(SACS):c.12084G>A (p.Leu4028=)
|
rs1242833943
|
0.00001
|
NM_014363.6(SACS):c.12086C>G (p.Ala4029Gly)
|
rs200620627
|
0.00001
|
NM_014363.6(SACS):c.12090T>C (p.Asn4030=)
|
rs896467064
|
0.00001
|
NM_014363.6(SACS):c.1209C>T (p.Ile403=)
|
rs769400626
|
0.00001
|
NM_014363.6(SACS):c.12133T>C (p.Leu4045=)
|
rs545028704
|
0.00001
|
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)
|
rs281865120
|
0.00001
|
NM_014363.6(SACS):c.12195T>C (p.Ile4065=)
|
rs1286408517
|
0.00001
|
NM_014363.6(SACS):c.12285C>T (p.Asp4095=)
|
rs1315062956
|
0.00001
|
NM_014363.6(SACS):c.12294C>T (p.Phe4098=)
|
rs761749563
|
0.00001
|
NM_014363.6(SACS):c.1229T>C (p.Leu410Ser)
|
rs777556535
|
0.00001
|
NM_014363.6(SACS):c.1236T>A (p.Asp412Glu)
|
rs752472671
|
0.00001
|
NM_014363.6(SACS):c.12429T>C (p.Tyr4143=)
|
rs1193969994
|
0.00001
|
NM_014363.6(SACS):c.12474A>G (p.Thr4158=)
|
rs767116262
|
0.00001
|
NM_014363.6(SACS):c.12500C>T (p.Thr4167Ile)
|
rs764098635
|
0.00001
|
NM_014363.6(SACS):c.12525T>G (p.Val4175=)
|
rs758466161
|
0.00001
|
NM_014363.6(SACS):c.1254A>C (p.Pro418=)
|
rs750585737
|
0.00001
|
NM_014363.6(SACS):c.12581A>G (p.Tyr4194Cys)
|
rs1486450052
|
0.00001
|
NM_014363.6(SACS):c.12585A>G (p.Gly4195=)
|
rs200305087
|
0.00001
|
NM_014363.6(SACS):c.12603C>T (p.Tyr4201=)
|
rs770163213
|
0.00001
|
NM_014363.6(SACS):c.12606A>C (p.Thr4202=)
|
rs780674369
|
0.00001
|
NM_014363.6(SACS):c.1269C>T (p.Ala423=)
|
rs377620507
|
0.00001
|
NM_014363.6(SACS):c.12720T>C (p.Leu4240=)
|
rs747702706
|
0.00001
|
NM_014363.6(SACS):c.12747G>A (p.Glu4249=)
|
rs779907117
|
0.00001
|
NM_014363.6(SACS):c.12789C>G (p.Thr4263=)
|
rs1195826873
|
0.00001
|
NM_014363.6(SACS):c.12831T>G (p.Pro4277=)
|
rs1298221924
|
0.00001
|
NM_014363.6(SACS):c.12833C>T (p.Pro4278Leu)
|
rs574294199
|
0.00001
|
NM_014363.6(SACS):c.12835C>G (p.Leu4279Val)
|
rs537725928
|
0.00001
|
NM_014363.6(SACS):c.1284C>T (p.Ser428=)
|
rs941949767
|
0.00001
|
NM_014363.6(SACS):c.12858C>T (p.His4286=)
|
rs555927628
|
0.00001
|
NM_014363.6(SACS):c.12882C>T (p.Ser4294=)
|
rs769768838
|
0.00001
|
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter)
|
rs762947018
|
0.00001
|
NM_014363.6(SACS):c.1306G>A (p.Ala436Thr)
|
rs1403003359
|
0.00001
|
NM_014363.6(SACS):c.13119C>T (p.Asp4373=)
|
rs368124828
|
0.00001
|
NM_014363.6(SACS):c.13149A>G (p.Ser4383=)
|
rs770028802
|
0.00001
|
NM_014363.6(SACS):c.13156C>T (p.Arg4386Ter)
|
rs899469618
|
0.00001
|
NM_014363.6(SACS):c.13218G>A (p.Thr4406=)
|
rs1229448994
|
0.00001
|
NM_014363.6(SACS):c.13263C>G (p.Pro4421=)
|
rs1452082694
|
0.00001
|
NM_014363.6(SACS):c.13269A>T (p.Ser4423=)
|
rs1180908312
|
0.00001
|
NM_014363.6(SACS):c.13273G>A (p.Gly4425Arg)
|
rs754693143
|
0.00001
|
NM_014363.6(SACS):c.13284C>T (p.Tyr4428=)
|
rs753277514
|
0.00001
|
NM_014363.6(SACS):c.13419G>A (p.Val4473=)
|
rs751336327
|
0.00001
|
NM_014363.6(SACS):c.13476G>C (p.Val4492=)
|
rs370362235
|
0.00001
|
NM_014363.6(SACS):c.13506A>G (p.Pro4502=)
|
rs1593119067
|
0.00001
|
NM_014363.6(SACS):c.13509T>G (p.Thr4503=)
|
rs745361567
|
0.00001
|
NM_014363.6(SACS):c.13536T>C (p.Tyr4512=)
|
rs1593118995
|
0.00001
|
NM_014363.6(SACS):c.13538G>A (p.Ser4513Asn)
|
rs138328181
|
0.00001
|
NM_014363.6(SACS):c.13574C>G (p.Thr4525Arg)
|
rs750412600
|
0.00001
|
NM_014363.6(SACS):c.13692T>C (p.Thr4564=)
|
rs770600182
|
0.00001
|
NM_014363.6(SACS):c.13719T>C (p.Asn4573=)
|
rs1309405788
|
0.00001
|
NM_014363.6(SACS):c.1389C>T (p.His463=)
|
rs1870277384
|
0.00001
|
NM_014363.6(SACS):c.1421G>A (p.Arg474His)
|
rs1271593930
|
0.00001
|
NM_014363.6(SACS):c.1485T>C (p.Phe495=)
|
rs779933721
|
0.00001
|
NM_014363.6(SACS):c.1566T>A (p.Ser522=)
|
rs1203606581
|
0.00001
|
NM_014363.6(SACS):c.1579T>C (p.Ser527Pro)
|
rs771914413
|
0.00001
|
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu)
|
rs1440541889
|
0.00001
|
NM_014363.6(SACS):c.1614G>A (p.Ala538=)
|
rs1405327643
|
0.00001
|
NM_014363.6(SACS):c.1683G>A (p.Val561=)
|
rs1485932032
|
0.00001
|
NM_014363.6(SACS):c.1714T>C (p.Leu572=)
|
rs145772567
|
0.00001
|
NM_014363.6(SACS):c.1716G>A (p.Leu572=)
|
rs780596882
|
0.00001
|
NM_014363.6(SACS):c.1728C>T (p.Tyr576=)
|
rs750748828
|
0.00001
|
NM_014363.6(SACS):c.1752A>G (p.Leu584=)
|
rs368626712
|
0.00001
|
NM_014363.6(SACS):c.1755A>G (p.Glu585=)
|
rs1287240338
|
0.00001
|
NM_014363.6(SACS):c.1762A>G (p.Lys588Glu)
|
rs376186273
|
0.00001
|
NM_014363.6(SACS):c.176C>G (p.Ser59Cys)
|
rs773543202
|
0.00001
|
NM_014363.6(SACS):c.1846G>C (p.Ala616Pro)
|
rs200437752
|
0.00001
|
NM_014363.6(SACS):c.1869del (p.Arg624fs)
|
rs1006060877
|
0.00001
|
NM_014363.6(SACS):c.1907G>A (p.Arg636Gln)
|
rs368944813
|
0.00001
|
NM_014363.6(SACS):c.1971C>T (p.Asp657=)
|
rs1870208518
|
0.00001
|
NM_014363.6(SACS):c.1980C>T (p.Tyr660=)
|
rs991078992
|
0.00001
|
NM_014363.6(SACS):c.199C>T (p.Leu67=)
|
rs769143590
|
0.00001
|
NM_014363.6(SACS):c.2023A>T (p.Asn675Tyr)
|
rs374667929
|
0.00001
|
NM_014363.6(SACS):c.2031C>T (p.Val677=)
|
rs771431845
|
0.00001
|
NM_014363.6(SACS):c.2092A>T (p.Arg698Trp)
|
rs965068037
|
0.00001
|
NM_014363.6(SACS):c.2093+10C>T
|
rs751417820
|
0.00001
|
NM_014363.6(SACS):c.2139G>A (p.Leu713=)
|
rs749720485
|
0.00001
|
NM_014363.6(SACS):c.2148C>T (p.His716=)
|
rs780789330
|
0.00001
|
NM_014363.6(SACS):c.2170G>T (p.Ala724Ser)
|
rs752593308
|
0.00001
|
NM_014363.6(SACS):c.2181C>G (p.Thr727=)
|
rs767656737
|
0.00001
|
NM_014363.6(SACS):c.2193A>G (p.Pro731=)
|
rs1290283039
|
0.00001
|
NM_014363.6(SACS):c.2233C>T (p.Arg745Cys)
|
rs536614181
|
0.00001
|
NM_014363.6(SACS):c.2278T>C (p.Leu760=)
|
rs770454726
|
0.00001
|
NM_014363.6(SACS):c.2289A>G (p.Gln763=)
|
rs765734527
|
0.00001
|
NM_014363.6(SACS):c.2304T>C (p.Asp768=)
|
rs1869226731
|
0.00001
|
NM_014363.6(SACS):c.2379T>C (p.Asp793=)
|
rs1869218552
|
0.00001
|
NM_014363.6(SACS):c.2388A>G (p.Leu796=)
|
rs747213520
|
0.00001
|
NM_014363.6(SACS):c.2451C>T (p.Leu817=)
|
rs756595744
|
0.00001
|
NM_014363.6(SACS):c.2471C>T (p.Ser824Leu)
|
rs762821420
|
0.00001
|
NM_014363.6(SACS):c.2488G>A (p.Asp830Asn)
|
rs571646732
|
0.00001
|
NM_014363.6(SACS):c.2509C>T (p.Pro837Ser)
|
rs769153924
|
0.00001
|
NM_014363.6(SACS):c.2547G>C (p.Gly849=)
|
rs1479328506
|
0.00001
|
NM_014363.6(SACS):c.2564T>C (p.Leu855Ser)
|
rs142037771
|
0.00001
|
NM_014363.6(SACS):c.2581C>T (p.His861Tyr)
|
rs759265754
|
0.00001
|
NM_014363.6(SACS):c.2585C>T (p.Pro862Leu)
|
rs776290829
|
0.00001
|
NM_014363.6(SACS):c.2611C>T (p.Pro871Ser)
|
rs370103461
|
0.00001
|
NM_014363.6(SACS):c.2682G>A (p.Ser894=)
|
rs369958174
|
0.00001
|
NM_014363.6(SACS):c.2702A>T (p.Asp901Val)
|
rs769056718
|
0.00001
|
NM_014363.6(SACS):c.2750A>T (p.Glu917Val)
|
rs201491052
|
0.00001
|
NM_014363.6(SACS):c.2830T>C (p.Leu944=)
|
rs1348417682
|
0.00001
|
NM_014363.6(SACS):c.2862C>T (p.Ala954=)
|
rs776780963
|
0.00001
|
NM_014363.6(SACS):c.2877T>C (p.Asp959=)
|
rs761263379
|
0.00001
|
NM_014363.6(SACS):c.3017A>G (p.His1006Arg)
|
rs368149368
|
0.00001
|
NM_014363.6(SACS):c.3030A>G (p.Thr1010=)
|
rs1869138853
|
0.00001
|
NM_014363.6(SACS):c.3060A>G (p.Leu1020=)
|
rs746764976
|
0.00001
|
NM_014363.6(SACS):c.3096G>A (p.Glu1032=)
|
rs529746813
|
0.00001
|
NM_014363.6(SACS):c.3100T>C (p.Leu1034=)
|
rs1312893381
|
0.00001
|
NM_014363.6(SACS):c.3111A>G (p.Leu1037=)
|
rs1299826374
|
0.00001
|
NM_014363.6(SACS):c.3147A>T (p.Ser1049=)
|
rs1172279475
|
0.00001
|
NM_014363.6(SACS):c.316A>C (p.Arg106=)
|
rs1593155679
|
0.00001
|
NM_014363.6(SACS):c.3231T>C (p.Val1077=)
|
rs781272328
|
0.00001
|
NM_014363.6(SACS):c.3261A>C (p.Leu1087Phe)
|
rs1417936142
|
0.00001
|
NM_014363.6(SACS):c.326A>G (p.Glu109Gly)
|
rs1317414910
|
0.00001
|
NM_014363.6(SACS):c.3288C>T (p.Ala1096=)
|
rs966965221
|
0.00001
|
NM_014363.6(SACS):c.3300A>G (p.Glu1100=)
|
rs1487356590
|
0.00001
|
NM_014363.6(SACS):c.3343G>A (p.Val1115Ile)
|
rs771915442
|
0.00001
|
NM_014363.6(SACS):c.3346G>A (p.Gly1116Ser)
|
rs774044532
|
0.00001
|
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe)
|
rs139805032
|
0.00001
|
NM_014363.6(SACS):c.3397C>T (p.Leu1133=)
|
rs1249661192
|
0.00001
|
NM_014363.6(SACS):c.339T>C (p.Ile113=)
|
rs890638661
|
0.00001
|
NM_014363.6(SACS):c.3402T>C (p.Val1134=)
|
rs1464284835
|
0.00001
|
NM_014363.6(SACS):c.3417C>T (p.His1139=)
|
rs758862765
|
0.00001
|
NM_014363.6(SACS):c.345+10A>G
|
rs764420228
|
0.00001
|
NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala)
|
rs1443000762
|
0.00001
|
NM_014363.6(SACS):c.3516C>A (p.Val1172=)
|
rs771148569
|
0.00001
|
NM_014363.6(SACS):c.3545C>T (p.Ala1182Val)
|
rs373859681
|
0.00001
|
NM_014363.6(SACS):c.3546A>G (p.Ala1182=)
|
rs772247163
|
0.00001
|
NM_014363.6(SACS):c.3554A>G (p.Asp1185Gly)
|
rs755751713
|
0.00001
|
NM_014363.6(SACS):c.3618T>C (p.His1206=)
|
rs771089482
|
0.00001
|
NM_014363.6(SACS):c.3701G>A (p.Trp1234Ter)
|
rs1248031379
|
0.00001
|
NM_014363.6(SACS):c.3726T>C (p.Asp1242=)
|
rs750012725
|
0.00001
|
NM_014363.6(SACS):c.3741A>G (p.Gln1247=)
|
rs763977282
|
0.00001
|
NM_014363.6(SACS):c.3745C>T (p.Gln1249Ter)
|
rs1027429746
|
0.00001
|
NM_014363.6(SACS):c.3868G>T (p.Ala1290Ser)
|
rs757939935
|
0.00001
|
NM_014363.6(SACS):c.3918T>C (p.Asn1306=)
|
rs774765353
|
0.00001
|
NM_014363.6(SACS):c.3951A>G (p.Leu1317=)
|
rs1276993951
|
0.00001
|
NM_014363.6(SACS):c.3969A>T (p.Ser1323=)
|
rs763191564
|
0.00001
|
NM_014363.6(SACS):c.4149T>C (p.His1383=)
|
rs749219225
|
0.00001
|
NM_014363.6(SACS):c.4200T>C (p.Tyr1400=)
|
rs972483882
|
0.00001
|
NM_014363.6(SACS):c.4296A>G (p.Glu1432=)
|
rs1454546564
|
0.00001
|
NM_014363.6(SACS):c.434C>G (p.Ser145Ter)
|
rs994374354
|
0.00001
|
NM_014363.6(SACS):c.4401T>C (p.Ile1467=)
|
rs1868991227
|
0.00001
|
NM_014363.6(SACS):c.4452C>T (p.Asn1484=)
|
rs1371225425
|
0.00001
|
NM_014363.6(SACS):c.4491T>C (p.Ile1497=)
|
rs1056501976
|
0.00001
|
NM_014363.6(SACS):c.4527C>T (p.Leu1509=)
|
rs1394125839
|
0.00001
|
NM_014363.6(SACS):c.4597T>G (p.Ser1533Ala)
|
rs1230237404
|
0.00001
|
NM_014363.6(SACS):c.4611C>T (p.Asn1537=)
|
rs759173138
|
0.00001
|
NM_014363.6(SACS):c.4612A>G (p.Ile1538Val)
|
rs544249449
|
0.00001
|
NM_014363.6(SACS):c.4628A>G (p.Glu1543Gly)
|
rs370324250
|
0.00001
|
NM_014363.6(SACS):c.4639A>T (p.Arg1547Trp)
|
rs772907934
|
0.00001
|
NM_014363.6(SACS):c.4665A>C (p.Lys1555Asn)
|
rs769852897
|
0.00001
|
NM_014363.6(SACS):c.4674T>G (p.Leu1558=)
|
rs781676575
|
0.00001
|
NM_014363.6(SACS):c.4692C>T (p.Tyr1564=)
|
rs1455651684
|
0.00001
|
NM_014363.6(SACS):c.4701T>C (p.Thr1567=)
|
rs777967700
|
0.00001
|
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn)
|
rs1160357920
|
0.00001
|
NM_014363.6(SACS):c.4749A>G (p.Pro1583=)
|
rs760512075
|
0.00001
|
NM_014363.6(SACS):c.475T>C (p.Tyr159His)
|
rs1305721973
|
0.00001
|
NM_014363.6(SACS):c.4782C>G (p.Asp1594Glu)
|
rs1330036755
|
0.00001
|
NM_014363.6(SACS):c.4803A>G (p.Lys1601=)
|
rs567166548
|
0.00001
|
NM_014363.6(SACS):c.483C>T (p.Asn161=)
|
rs762321054
|
0.00001
|
NM_014363.6(SACS):c.4840T>C (p.Phe1614Leu)
|
rs771080306
|
0.00001
|
NM_014363.6(SACS):c.4857A>G (p.Lys1619=)
|
rs1183984626
|
0.00001
|
NM_014363.6(SACS):c.4887A>G (p.Leu1629=)
|
rs1419607062
|
0.00001
|
NM_014363.6(SACS):c.4899A>T (p.Val1633=)
|
rs146419598
|
0.00001
|
NM_014363.6(SACS):c.4913G>A (p.Ser1638Asn)
|
rs774163551
|
0.00001
|
NM_014363.6(SACS):c.4929T>C (p.Leu1643=)
|
rs776977428
|
0.00001
|
NM_014363.6(SACS):c.492C>T (p.Phe164=)
|
rs745849958
|
0.00001
|
NM_014363.6(SACS):c.4938G>A (p.Leu1646=)
|
rs1316203129
|
0.00001
|
NM_014363.6(SACS):c.4944T>C (p.Phe1648=)
|
rs1274561101
|
0.00001
|
NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys)
|
rs1269546947
|
0.00001
|
NM_014363.6(SACS):c.5060C>T (p.Thr1687Ile)
|
rs776656956
|
0.00001
|
NM_014363.6(SACS):c.5064G>A (p.Gln1688=)
|
rs760628805
|
0.00001
|
NM_014363.6(SACS):c.510C>T (p.His170=)
|
rs575556786
|
0.00001
|
NM_014363.6(SACS):c.5143A>T (p.Lys1715Ter)
|
rs755824618
|
0.00001
|
NM_014363.6(SACS):c.5304C>T (p.His1768=)
|
rs373239775
|
0.00001
|
NM_014363.6(SACS):c.5322T>C (p.Ile1774=)
|
rs1034825215
|
0.00001
|
NM_014363.6(SACS):c.5337G>A (p.Ser1779=)
|
rs767529590
|
0.00001
|
NM_014363.6(SACS):c.5557C>T (p.Leu1853=)
|
rs1353300258
|
0.00001
|
NM_014363.6(SACS):c.5582G>A (p.Trp1861Ter)
|
rs946368716
|
0.00001
|
NM_014363.6(SACS):c.5595A>C (p.Pro1865=)
|
rs777869317
|
0.00001
|
NM_014363.6(SACS):c.5610G>A (p.Val1870=)
|
rs765722028
|
0.00001
|
NM_014363.6(SACS):c.561C>T (p.Val187=)
|
rs758653462
|
0.00001
|
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter)
|
rs761089024
|
0.00001
|
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met)
|
rs368494148
|
0.00001
|
NM_014363.6(SACS):c.5733G>A (p.Thr1911=)
|
rs754333038
|
0.00001
|
NM_014363.6(SACS):c.573A>G (p.Gly191=)
|
rs750678759
|
0.00001
|
NM_014363.6(SACS):c.5835A>G (p.Val1945=)
|
rs1593129510
|
0.00001
|
NM_014363.6(SACS):c.5848G>A (p.Asp1950Asn)
|
rs370902090
|
0.00001
|
NM_014363.6(SACS):c.5898T>C (p.Asp1966=)
|
rs762511209
|
0.00001
|
NM_014363.6(SACS):c.5910A>G (p.Gly1970=)
|
rs1236957952
|
0.00001
|
NM_014363.6(SACS):c.5930A>G (p.Lys1977Arg)
|
rs774492331
|
0.00001
|
NM_014363.6(SACS):c.5932G>A (p.Val1978Ile)
|
rs373812430
|
0.00001
|
NM_014363.6(SACS):c.593A>G (p.Tyr198Cys)
|
rs1461096954
|
0.00001
|
NM_014363.6(SACS):c.5970C>T (p.Asn1990=)
|
rs199573269
|
0.00001
|
NM_014363.6(SACS):c.5975G>A (p.Arg1992Lys)
|
rs758101602
|
0.00001
|
NM_014363.6(SACS):c.5985T>C (p.Asp1995=)
|
rs764645489
|
0.00001
|
NM_014363.6(SACS):c.598A>G (p.Ile200Val)
|
rs762268076
|
0.00001
|
NM_014363.6(SACS):c.6006A>G (p.Arg2002=)
|
rs920395434
|
0.00001
|
NM_014363.6(SACS):c.6186T>C (p.Phe2062=)
|
rs755689089
|
0.00001
|
NM_014363.6(SACS):c.6235T>C (p.Phe2079Leu)
|
rs1364796862
|
0.00001
|
NM_014363.6(SACS):c.623G>T (p.Ser208Ile)
|
rs911764681
|
0.00001
|
NM_014363.6(SACS):c.6288A>T (p.Pro2096=)
|
rs139242482
|
0.00001
|
NM_014363.6(SACS):c.6383A>G (p.Asp2128Gly)
|
rs762352013
|
0.00001
|
NM_014363.6(SACS):c.6399T>C (p.Tyr2133=)
|
rs775060182
|
0.00001
|
NM_014363.6(SACS):c.6577G>A (p.Asp2193Asn)
|
rs149278134
|
0.00001
|
NM_014363.6(SACS):c.6627A>G (p.Lys2209=)
|
rs764616342
|
0.00001
|
NM_014363.6(SACS):c.6778A>G (p.Ile2260Val)
|
rs202110208
|
0.00001
|
NM_014363.6(SACS):c.6857A>G (p.Lys2286Arg)
|
rs754381972
|
0.00001
|
NM_014363.6(SACS):c.6864A>G (p.Pro2288=)
|
rs756561578
|
0.00001
|
NM_014363.6(SACS):c.6921A>G (p.Gly2307=)
|
rs200277478
|
0.00001
|
NM_014363.6(SACS):c.6939G>A (p.Glu2313=)
|
rs746279125
|
0.00001
|
NM_014363.6(SACS):c.7100C>T (p.Ala2367Val)
|
rs752273313
|
0.00001
|
NM_014363.6(SACS):c.7164C>T (p.Thr2388=)
|
rs918107481
|
0.00001
|
NM_014363.6(SACS):c.7182A>G (p.Ser2394=)
|
rs768013904
|
0.00001
|
NM_014363.6(SACS):c.7203T>C (p.Ala2401=)
|
rs1400244997
|
0.00001
|
NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs)
|
rs773182375
|
0.00001
|
NM_014363.6(SACS):c.7230A>G (p.Glu2410=)
|
rs765300147
|
0.00001
|
NM_014363.6(SACS):c.7246A>G (p.Ile2416Val)
|
rs774907744
|
0.00001
|
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter)
|
rs145766983
|
0.00001
|
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val)
|
rs1007936574
|
0.00001
|
NM_014363.6(SACS):c.7306A>C (p.Ile2436Leu)
|
rs567650774
|
0.00001
|
NM_014363.6(SACS):c.7311A>G (p.Arg2437=)
|
rs1472391006
|
0.00001
|
NM_014363.6(SACS):c.7314A>G (p.Glu2438=)
|
rs748828472
|
0.00001
|
NM_014363.6(SACS):c.7376T>C (p.Met2459Thr)
|
rs767864000
|
0.00001
|
NM_014363.6(SACS):c.7485A>G (p.Lys2495=)
|
rs767941919
|
0.00001
|
NM_014363.6(SACS):c.7569G>A (p.Gly2523=)
|
rs749462494
|
0.00001
|
NM_014363.6(SACS):c.7595T>C (p.Ile2532Thr)
|
rs1292962703
|
0.00001
|
NM_014363.6(SACS):c.7613C>T (p.Ala2538Val)
|
rs1397645663
|
0.00001
|
NM_014363.6(SACS):c.7674G>A (p.Ala2558=)
|
rs983508748
|
0.00001
|
NM_014363.6(SACS):c.7692G>A (p.Val2564=)
|
rs771924997
|
0.00001
|
NM_014363.6(SACS):c.7713A>G (p.Pro2571=)
|
rs557113294
|
0.00001
|
NM_014363.6(SACS):c.7742C>T (p.Ala2581Val)
|
rs866333277
|
0.00001
|
NM_014363.6(SACS):c.7747T>C (p.Leu2583=)
|
rs1017350676
|
0.00001
|
NM_014363.6(SACS):c.774G>A (p.Lys258=)
|
rs1165959000
|
0.00001
|
NM_014363.6(SACS):c.7833G>A (p.Thr2611=)
|
rs1237743096
|
0.00001
|
NM_014363.6(SACS):c.7962T>C (p.Tyr2654=)
|
rs777875035
|
0.00001
|
NM_014363.6(SACS):c.7974C>G (p.Ala2658=)
|
rs148209022
|
0.00001
|
NM_014363.6(SACS):c.7981A>G (p.Ile2661Val)
|
rs1269342975
|
0.00001
|
NM_014363.6(SACS):c.8012A>G (p.Asp2671Gly)
|
rs373785542
|
0.00001
|
NM_014363.6(SACS):c.8058G>C (p.Leu2686=)
|
rs779477513
|
0.00001
|
NM_014363.6(SACS):c.8108G>A (p.Arg2703His)
|
rs750181262
|
0.00001
|
NM_014363.6(SACS):c.8109T>C (p.Arg2703=)
|
rs750168452
|
0.00001
|
NM_014363.6(SACS):c.8132C>T (p.Ser2711Leu)
|
rs1213203489
|
0.00001
|
NM_014363.6(SACS):c.8133G>A (p.Ser2711=)
|
rs143386746
|
0.00001
|
NM_014363.6(SACS):c.8141C>T (p.Ser2714Leu)
|
rs762610527
|
0.00001
|
NM_014363.6(SACS):c.814C>T (p.Arg272Cys)
|
rs374128662
|
0.00001
|
NM_014363.6(SACS):c.8154A>G (p.Ala2718=)
|
rs773434326
|
0.00001
|
NM_014363.6(SACS):c.8166G>T (p.Met2722Ile)
|
rs1327898921
|
0.00001
|
NM_014363.6(SACS):c.818T>A (p.Phe273Tyr)
|
rs182864646
|
0.00001
|
NM_014363.6(SACS):c.8191C>T (p.Arg2731Cys)
|
rs772072343
|
0.00001
|
NM_014363.6(SACS):c.8281G>A (p.Val2761Met)
|
rs372119773
|
0.00001
|
NM_014363.6(SACS):c.8307C>A (p.Ile2769=)
|
rs1478809811
|
0.00001
|
NM_014363.6(SACS):c.831A>G (p.Leu277=)
|
rs747543820
|
0.00001
|
NM_014363.6(SACS):c.8337A>G (p.Gln2779=)
|
rs777320906
|
0.00001
|
NM_014363.6(SACS):c.8356G>C (p.Asp2786His)
|
rs753607639
|
0.00001
|
NM_014363.6(SACS):c.8357A>G (p.Asp2786Gly)
|
rs1566063039
|
0.00001
|
NM_014363.6(SACS):c.8379G>A (p.Gln2793=)
|
rs776028181
|
0.00001
|
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile)
|
rs772742353
|
0.00001
|
NM_014363.6(SACS):c.8504G>A (p.Ser2835Asn)
|
rs1382975968
|
0.00001
|
NM_014363.6(SACS):c.861C>T (p.Tyr287=)
|
rs200877272
|
0.00001
|
NM_014363.6(SACS):c.8697T>C (p.Asp2899=)
|
rs766827808
|
0.00001
|
NM_014363.6(SACS):c.8799T>C (p.Tyr2933=)
|
rs779302353
|
0.00001
|
NM_014363.6(SACS):c.8844del (p.Ile2949fs)
|
rs281865117
|
0.00001
|
NM_014363.6(SACS):c.8880A>G (p.Leu2960=)
|
rs1373611853
|
0.00001
|
NM_014363.6(SACS):c.8883G>A (p.Ser2961=)
|
rs1463204431
|
0.00001
|
NM_014363.6(SACS):c.8900G>A (p.Arg2967His)
|
rs777753707
|
0.00001
|
NM_014363.6(SACS):c.8922A>G (p.Leu2974=)
|
rs563864403
|
0.00001
|
NM_014363.6(SACS):c.8931A>G (p.Leu2977=)
|
rs376228714
|
0.00001
|
NM_014363.6(SACS):c.8949T>C (p.Asn2983=)
|
rs530439104
|
0.00001
|
NM_014363.6(SACS):c.8956C>G (p.His2986Asp)
|
rs751888795
|
0.00001
|
NM_014363.6(SACS):c.8976T>C (p.Leu2992=)
|
rs1184717209
|
0.00001
|
NM_014363.6(SACS):c.9008G>C (p.Gly3003Ala)
|
rs1170753806
|
0.00001
|
NM_014363.6(SACS):c.9108A>G (p.Gln3036=)
|
rs1226706134
|
0.00001
|
NM_014363.6(SACS):c.9168T>C (p.Tyr3056=)
|
rs374129015
|
0.00001
|
NM_014363.6(SACS):c.9173T>G (p.Leu3058Arg)
|
rs758654165
|
0.00001
|
NM_014363.6(SACS):c.9232A>G (p.Asn3078Asp)
|
rs755698899
|
0.00001
|
NM_014363.6(SACS):c.924C>G (p.Leu308=)
|
rs368573394
|
0.00001
|
NM_014363.6(SACS):c.9292A>G (p.Ile3098Val)
|
rs745664974
|
0.00001
|
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter)
|
rs886041949
|
0.00001
|
NM_014363.6(SACS):c.930G>T (p.Leu310=)
|
rs1003682599
|
0.00001
|
NM_014363.6(SACS):c.9324T>C (p.Pro3108=)
|
rs748663426
|
0.00001
|
NM_014363.6(SACS):c.9339T>C (p.His3113=)
|
rs1883704767
|
0.00001
|
NM_014363.6(SACS):c.9345G>C (p.Gly3115=)
|
rs1356778975
|
0.00001
|
NM_014363.6(SACS):c.9426T>C (p.Asp3142=)
|
rs984124456
|
0.00001
|
NM_014363.6(SACS):c.944A>G (p.Asp315Gly)
|
rs771115225
|
0.00001
|
NM_014363.6(SACS):c.9474A>G (p.Thr3158=)
|
rs1421120585
|
0.00001
|
NM_014363.6(SACS):c.9492A>C (p.Gln3164His)
|
rs1025915131
|
0.00001
|
NM_014363.6(SACS):c.9516G>A (p.Lys3172=)
|
rs1409643298
|
0.00001
|
NM_014363.6(SACS):c.9538T>C (p.Leu3180=)
|
rs1249527788
|
0.00001
|
NM_014363.6(SACS):c.9573A>G (p.Thr3191=)
|
rs761821873
|
0.00001
|
NM_014363.6(SACS):c.9618A>G (p.Ala3206=)
|
rs1377041786
|
0.00001
|
NM_014363.6(SACS):c.9636C>T (p.Ser3212=)
|
rs746474360
|
0.00001
|
NM_014363.6(SACS):c.9661G>A (p.Val3221Met)
|
rs142867964
|
0.00001
|
NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys)
|
rs776143384
|
0.00001
|
NM_014363.6(SACS):c.9680A>C (p.Lys3227Thr)
|
rs765635417
|
0.00001
|
NM_014363.6(SACS):c.9723G>C (p.Glu3241Asp)
|
rs772595501
|
0.00001
|
NM_014363.6(SACS):c.9731T>A (p.Leu3244His)
|
rs886042769
|
0.00001
|
NM_014363.6(SACS):c.9765A>G (p.Val3255=)
|
rs749004855
|
0.00001
|
NM_014363.6(SACS):c.9801A>T (p.Thr3267=)
|
rs765872254
|
0.00001
|
NM_014363.6(SACS):c.9822T>C (p.Thr3274=)
|
rs771522497
|
0.00001
|
NM_014363.6(SACS):c.984A>G (p.Lys328=)
|
rs1870322643
|
0.00001
|
NM_014363.6(SACS):c.9885T>A (p.Val3295=)
|
rs752805757
|
0.00001
|
NM_014363.6(SACS):c.9915C>T (p.Ser3305=)
|
rs761124250
|
0.00001
|
NM_014363.6(SACS):c.9956_9957dup (p.Val3320fs)
|
rs772704931
|
0.00001
|
NM_014363.6(SACS):c.9996T>C (p.Leu3332=)
|
rs1484198071
|
0.00001
|
NC_000013.10:g.(?_23903991)_(23905304_?)del
|
|
|
NC_000013.10:g.(?_23927914)_(23985388_?)del
|
|
|
NC_000013.10:g.(?_23985349)_(23985388_?)del
|
|
|
NC_000013.11:g.(?_23353775)_(23358491_?)del
|
|
|
NM_014363.6(SACS):c.10000T>C (p.Leu3334=)
|
rs2137578816
|
|
NM_014363.6(SACS):c.10002G>A (p.Leu3334=)
|
rs2137578794
|
|
NM_014363.6(SACS):c.10005C>T (p.Asn3335=)
|
|
|
NM_014363.6(SACS):c.10023C>T (p.Asp3341=)
|
rs2137578682
|
|
NM_014363.6(SACS):c.10026T>C (p.Ser3342=)
|
|
|
NM_014363.6(SACS):c.10029A>G (p.Ala3343=)
|
rs1018403111
|
|
NM_014363.6(SACS):c.1004C>A (p.Ser335Ter)
|
rs767435985
|
|
NM_014363.6(SACS):c.10056A>G (p.Thr3352=)
|
|
|
NM_014363.6(SACS):c.10056A>T (p.Thr3352=)
|
|
|
NM_014363.6(SACS):c.1005G>C (p.Ser335=)
|
rs1260369962
|
|
NM_014363.6(SACS):c.10062T>C (p.Asn3354=)
|
|
|
NM_014363.6(SACS):c.10063A>G (p.Ile3355Val)
|
|
|
NM_014363.6(SACS):c.10064T>G (p.Ile3355Arg)
|
rs372488932
|
|
NM_014363.6(SACS):c.10068G>A (p.Glu3356=)
|
rs559719069
|
|
NM_014363.6(SACS):c.10068G>C (p.Glu3356Asp)
|
|
|
NM_014363.6(SACS):c.10070G>A (p.Ser3357Asn)
|
|
|
NM_014363.6(SACS):c.10072C>G (p.Pro3358Ala)
|
|
|
NM_014363.6(SACS):c.10074C>T (p.Pro3358=)
|
|
|
NM_014363.6(SACS):c.10076C>A (p.Thr3359Lys)
|
rs368089670
|
|
NM_014363.6(SACS):c.10079del (p.Ser3360fs)
|
|
|
NM_014363.6(SACS):c.10083C>T (p.Ile3361=)
|
|
|
NM_014363.6(SACS):c.10089G>A (p.Lys3363=)
|
|
|
NM_014363.6(SACS):c.10093C>G (p.Leu3365Val)
|
|
|
NM_014363.6(SACS):c.10093C>T (p.Leu3365=)
|
|
|
NM_014363.6(SACS):c.10095A>G (p.Leu3365=)
|
rs2137578067
|
|
NM_014363.6(SACS):c.10100_10121del (p.Tyr3367fs)
|
rs2137577673
|
|
NM_014363.6(SACS):c.10101T>C (p.Tyr3367=)
|
|
|
NM_014363.6(SACS):c.10106T>G (p.Val3369Gly)
|
|
|
NM_014363.6(SACS):c.10110A>G (p.Gln3370=)
|
|
|
NM_014363.6(SACS):c.10115dup (p.Thr3373fs)
|
|
|
NM_014363.6(SACS):c.10122T>C (p.Phe3374=)
|
rs2137577656
|
|
NM_014363.6(SACS):c.10125A>G (p.Arg3375=)
|
rs766231682
|
|
NM_014363.6(SACS):c.10126G>A (p.Ala3376Thr)
|
|
|
NM_014363.6(SACS):c.10133A>G (p.Lys3378Arg)
|
|
|
NM_014363.6(SACS):c.10134A>G (p.Lys3378=)
|
|
|
NM_014363.6(SACS):c.1014dup (p.Lys339Ter)
|
rs2137725980
|
|
NM_014363.6(SACS):c.10152T>C (p.Phe3384=)
|
|
|
NM_014363.6(SACS):c.10158A>G (p.Ala3386=)
|
rs775633710
|
|
NM_014363.6(SACS):c.10162T>C (p.Leu3388=)
|
|
|
NM_014363.6(SACS):c.10164G>A (p.Leu3388=)
|
rs1482698759
|
|
NM_014363.6(SACS):c.10175A>G (p.Asn3392Ser)
|
rs746316505
|
|
NM_014363.6(SACS):c.10194G>T (p.Leu3398Phe)
|
|
|
NM_014363.6(SACS):c.10197G>A (p.Met3399Ile)
|
|
|
NM_014363.6(SACS):c.10200C>A (p.Ser3400=)
|
|
|
NM_014363.6(SACS):c.10200C>T (p.Ser3400=)
|
rs1593123933
|
|
NM_014363.6(SACS):c.10219C>G (p.Leu3407Val)
|
|
|
NM_014363.6(SACS):c.10221A>T (p.Leu3407=)
|
|
|
NM_014363.6(SACS):c.10227A>G (p.Ser3409=)
|
rs1593123878
|
|
NM_014363.6(SACS):c.10230T>C (p.Leu3410=)
|
|
|
NM_014363.6(SACS):c.10231C>G (p.Pro3411Ala)
|
|
|
NM_014363.6(SACS):c.10233G>A (p.Pro3411=)
|
rs750961199
|
|
NM_014363.6(SACS):c.10233G>T (p.Pro3411=)
|
rs750961199
|
|
NM_014363.6(SACS):c.10238A>G (p.Tyr3413Cys)
|
|
|
NM_014363.6(SACS):c.10266C>T (p.Ser3422=)
|
|
|
NM_014363.6(SACS):c.10291G>A (p.Val3431Ile)
|
|
|
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu)
|
rs144179865
|
|
NM_014363.6(SACS):c.10298C>G (p.Thr3433Arg)
|
rs200991790
|
|
NM_014363.6(SACS):c.10299A>T (p.Thr3433=)
|
rs2137576092
|
|
NM_014363.6(SACS):c.1029T>C (p.His343=)
|
|
|
NM_014363.6(SACS):c.10308C>G (p.Ile3436Met)
|
|
|
NM_014363.6(SACS):c.10311T>C (p.Pro3437=)
|
rs2137575945
|
|
NM_014363.6(SACS):c.10327A>C (p.Lys3443Gln)
|
rs768317695
|
|
NM_014363.6(SACS):c.10327A>G (p.Lys3443Glu)
|
|
|
NM_014363.6(SACS):c.10335A>T (p.Thr3445=)
|
rs1883628192
|
|
NM_014363.6(SACS):c.10340C>T (p.Ser3447Leu)
|
rs2137575641
|
|
NM_014363.6(SACS):c.1034G>A (p.Arg345Gln)
|
|
|
NM_014363.6(SACS):c.10353A>G (p.Ala3451=)
|
rs1376530764
|
|
NM_014363.6(SACS):c.1035G>A (p.Arg345=)
|
rs2137725795
|
|
NM_014363.6(SACS):c.10374C>T (p.His3458=)
|
|
|
NM_014363.6(SACS):c.10377A>G (p.Leu3459=)
|
|
|
NM_014363.6(SACS):c.10379_10383del (p.Lys3460fs)
|
rs1555250255
|
|
NM_014363.6(SACS):c.1037C>T (p.Pro346Leu)
|
|
|
NM_014363.6(SACS):c.10383A>G (p.Glu3461=)
|
|
|
NM_014363.6(SACS):c.10384C>T (p.Leu3462=)
|
|
|
NM_014363.6(SACS):c.10387T>C (p.Tyr3463His)
|
rs1883623876
|
|
NM_014363.6(SACS):c.10394T>G (p.Val3465Gly)
|
|
|
NM_014363.6(SACS):c.10398T>C (p.Ile3466=)
|
|
|
NM_014363.6(SACS):c.10398T>G (p.Ile3466Met)
|
|
|
NM_014363.6(SACS):c.1039A>G (p.Asn347Asp)
|
|
|
NM_014363.6(SACS):c.10401T>C (p.Gly3467=)
|
|
|
NM_014363.6(SACS):c.10428A>G (p.Val3476=)
|
rs2137574942
|
|
NM_014363.6(SACS):c.10440C>T (p.His3480=)
|
|
|
NM_014363.6(SACS):c.10443C>T (p.Leu3481=)
|
rs144087359
|
|
NM_014363.6(SACS):c.10454T>C (p.Ile3485Thr)
|
|
|
NM_014363.6(SACS):c.10458A>C (p.Glu3486Asp)
|
|
|
NM_014363.6(SACS):c.1045A>G (p.Ile349Val)
|
|
|
NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs)
|
rs786204416
|
|
NM_014363.6(SACS):c.10467T>G (p.Ser3489=)
|
|
|
NM_014363.6(SACS):c.10473T>C (p.Asp3491=)
|
rs2137574612
|
|
NM_014363.6(SACS):c.10489T>C (p.Leu3497=)
|
|
|
NM_014363.6(SACS):c.10494C>A (p.Ile3498=)
|
|
|
NM_014363.6(SACS):c.10494C>G (p.Ile3498Met)
|
|
|
NM_014363.6(SACS):c.10497C>A (p.Tyr3499Ter)
|
rs755186798
|
|
NM_014363.6(SACS):c.10497_10500del (p.Ile3498_Tyr3499insTer)
|
rs2137574344
|
|
NM_014363.6(SACS):c.10498C>T (p.Leu3500Phe)
|
|
|
NM_014363.6(SACS):c.10500T>A (p.Leu3500=)
|
rs976749171
|
|
NM_014363.6(SACS):c.10506T>C (p.Asn3502=)
|
|
|
NM_014363.6(SACS):c.10510T>C (p.Leu3504=)
|
rs771474242
|
|
NM_014363.6(SACS):c.10518T>C (p.Ser3506=)
|
rs2137574163
|
|
NM_014363.6(SACS):c.10520C>G (p.Ala3507Gly)
|
|
|
NM_014363.6(SACS):c.10521T>C (p.Ala3507=)
|
|
|
NM_014363.6(SACS):c.10543G>T (p.Glu3515Ter)
|
|
|
NM_014363.6(SACS):c.10545A>G (p.Glu3515=)
|
rs2137573919
|
|
NM_014363.6(SACS):c.10546C>T (p.Gln3516Ter)
|
rs1593123432
|
|
NM_014363.6(SACS):c.10548A>G (p.Gln3516=)
|
|
|
NM_014363.6(SACS):c.10551T>A (p.Leu3517=)
|
rs2137573889
|
|
NM_014363.6(SACS):c.10558A>G (p.Lys3520Glu)
|
|
|
NM_014363.6(SACS):c.10561C>T (p.Leu3521=)
|
rs2137573846
|
|
NM_014363.6(SACS):c.10566A>C (p.Glu3522Asp)
|
|
|
NM_014363.6(SACS):c.10569T>C (p.Ser3523=)
|
|
|
NM_014363.6(SACS):c.10572A>G (p.Leu3524=)
|
rs878854976
|
|
NM_014363.6(SACS):c.10573T>C (p.Leu3525=)
|
|
|
NM_014363.6(SACS):c.10575G>A (p.Leu3525=)
|
rs2137573752
|
|
NM_014363.6(SACS):c.10581C>T (p.Ile3527=)
|
|
|
NM_014363.6(SACS):c.1058G>A (p.Gly353Glu)
|
|
|
NM_014363.6(SACS):c.10600C>T (p.Leu3534=)
|
|
|
NM_014363.6(SACS):c.10605G>C (p.Lys3535Asn)
|
|
|
NM_014363.6(SACS):c.10608A>G (p.Gln3536=)
|
rs1883610386
|
|
NM_014363.6(SACS):c.10614G>A (p.Lys3538=)
|
|
|
NM_014363.6(SACS):c.1061C>G (p.Thr354Ser)
|
rs1425519295
|
|
NM_014363.6(SACS):c.10626T>C (p.Asp3542=)
|
|
|
NM_014363.6(SACS):c.10635G>C (p.Val3545=)
|
rs2137573341
|
|
NM_014363.6(SACS):c.10650T>A (p.Val3550=)
|
rs2137573236
|
|
NM_014363.6(SACS):c.10651A>G (p.Met3551Val)
|
|
|
NM_014363.6(SACS):c.10656T>C (p.Leu3552=)
|
rs2137573154
|
|
NM_014363.6(SACS):c.1065T>C (p.Ala355=)
|
|
|
NM_014363.6(SACS):c.10665A>G (p.Lys3555=)
|
|
|
NM_014363.6(SACS):c.10666T>C (p.Leu3556=)
|
|
|
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu)
|
rs148286091
|
|
NM_014363.6(SACS):c.1066A>G (p.Ile356Val)
|
rs148286091
|
|
NM_014363.6(SACS):c.10671dup (p.Ile3558fs)
|
rs2137573025
|
|
NM_014363.6(SACS):c.10677T>A (p.Pro3559=)
|
rs2137572981
|
|
NM_014363.6(SACS):c.1067T>C (p.Ile356Thr)
|
|
|
NM_014363.6(SACS):c.10680T>C (p.Asn3560=)
|
rs2137572964
|
|
NM_014363.6(SACS):c.10683T>C (p.Asp3561=)
|
|
|
NM_014363.6(SACS):c.10692del (p.Lys3565fs)
|
rs2137572889
|
|
NM_014363.6(SACS):c.10708A>T (p.Ile3570Leu)
|
rs878854977
|
|
NM_014363.6(SACS):c.10714C>T (p.Pro3572Ser)
|
|
|
NM_014363.6(SACS):c.10716C>G (p.Pro3572=)
|
rs886050077
|
|
NM_014363.6(SACS):c.10716C>T (p.Pro3572=)
|
|
|
NM_014363.6(SACS):c.1071T>C (p.Ser357=)
|
|
|
NM_014363.6(SACS):c.10724A>G (p.His3575Arg)
|
|
|
NM_014363.6(SACS):c.10724A>T (p.His3575Leu)
|
rs370579192
|
|
NM_014363.6(SACS):c.10725T>C (p.His3575=)
|
rs1368388819
|
|
NM_014363.6(SACS):c.10731A>C (p.Thr3577=)
|
rs759287298
|
|
NM_014363.6(SACS):c.1073A>G (p.Asn358Ser)
|
|
|
NM_014363.6(SACS):c.10747G>A (p.Val3583Met)
|
|
|
NM_014363.6(SACS):c.10759A>C (p.Arg3587=)
|
|
|
NM_014363.6(SACS):c.10761A>G (p.Arg3587=)
|
|
|
NM_014363.6(SACS):c.10765A>G (p.Ile3589Val)
|
|
|
NM_014363.6(SACS):c.10766T>C (p.Ile3589Thr)
|
|
|
NM_014363.6(SACS):c.1076_1077del (p.Tyr359fs)
|
|
|
NM_014363.6(SACS):c.10773A>G (p.Leu3591=)
|
rs1465126175
|
|
NM_014363.6(SACS):c.1077T>C (p.Tyr359=)
|
rs922749393
|
|
NM_014363.6(SACS):c.10780A>G (p.Ile3594Val)
|
rs994425261
|
|
NM_014363.6(SACS):c.10788_10789del (p.Gln3597fs)
|
rs2137572074
|
|
NM_014363.6(SACS):c.10791_10792delinsAA (p.Gln3598Lys)
|
|
|
NM_014363.6(SACS):c.10794G>A (p.Gln3598=)
|
|
|
NM_014363.6(SACS):c.10797G>A (p.Gln3599=)
|
rs2137571967
|
|
NM_014363.6(SACS):c.1079G>A (p.Cys360Tyr)
|
|
|
NM_014363.6(SACS):c.10800G>C (p.Leu3600Phe)
|
|
|
NM_014363.6(SACS):c.10804C>T (p.Gln3602Ter)
|
rs1057517002
|
|
NM_014363.6(SACS):c.10812T>C (p.Ala3604=)
|
|
|
NM_014363.6(SACS):c.10818A>T (p.Glu3606Asp)
|
|
|
NM_014363.6(SACS):c.10825G>A (p.Val3609Met)
|
|
|
NM_014363.6(SACS):c.10830G>A (p.Arg3610=)
|
rs2137571629
|
|
NM_014363.6(SACS):c.10832C>T (p.Ala3611Val)
|
|
|
NM_014363.6(SACS):c.10847G>A (p.Trp3616Ter)
|
rs1365858851
|
|
NM_014363.6(SACS):c.10855G>T (p.Glu3619Ter)
|
rs748151842
|
|
NM_014363.6(SACS):c.1085A>G (p.Lys362Arg)
|
|
|
NM_014363.6(SACS):c.10866A>G (p.Gln3622=)
|
|
|
NM_014363.6(SACS):c.1086G>A (p.Lys362=)
|
|
|
NM_014363.6(SACS):c.10880T>G (p.Ile3627Ser)
|
|
|
NM_014363.6(SACS):c.10884T>C (p.Leu3628=)
|
|
|
NM_014363.6(SACS):c.10900C>T (p.Gln3634Ter)
|
|
|
NM_014363.6(SACS):c.10901A>T (p.Gln3634Leu)
|
|
|
NM_014363.6(SACS):c.10917G>T (p.Leu3639Phe)
|
|
|
NM_014363.6(SACS):c.10932T>C (p.Phe3644=)
|
rs2137570828
|
|
NM_014363.6(SACS):c.10933C>T (p.Leu3645=)
|
rs761683862
|
|
NM_014363.6(SACS):c.10933del (p.Phe3644_Leu3645insTer)
|
rs1566058677
|
|
NM_014363.6(SACS):c.10935G>C (p.Leu3645=)
|
rs2137570784
|
|
NM_014363.6(SACS):c.10938_10941del (p.Lys3646fs)
|
|
|
NM_014363.6(SACS):c.10939G>T (p.Glu3647Ter)
|
rs1156566314
|
|
NM_014363.6(SACS):c.10941A>G (p.Glu3647=)
|
|
|
NM_014363.6(SACS):c.10944A>G (p.Leu3648=)
|
rs2137570658
|
|
NM_014363.6(SACS):c.10948T>C (p.Leu3650=)
|
rs1185242012
|
|
NM_014363.6(SACS):c.10949del (p.Ser3649_Leu3650insTer)
|
|
|
NM_014363.6(SACS):c.10955del (p.Pro3652fs)
|
|
|
NM_014363.6(SACS):c.10966C>A (p.Pro3656Thr)
|
|
|
NM_014363.6(SACS):c.10968T>C (p.Pro3656=)
|
rs1052860179
|
|
NM_014363.6(SACS):c.10971G>A (p.Glu3657=)
|
|
|
NM_014363.6(SACS):c.10975G>C (p.Ala3659Pro)
|
|
|
NM_014363.6(SACS):c.10977C>T (p.Ala3659=)
|
|
|
NM_014363.6(SACS):c.10991T>C (p.Ile3664Thr)
|
|
|
NM_014363.6(SACS):c.11012_11013del (p.Gln3671fs)
|
|
|
NM_014363.6(SACS):c.11017G>A (p.Val3673Ile)
|
|
|
NM_014363.6(SACS):c.1101C>T (p.Asn367=)
|
rs2137725129
|
|
NM_014363.6(SACS):c.11025A>G (p.Gly3675=)
|
rs2137569964
|
|
NM_014363.6(SACS):c.11037T>G (p.Leu3679=)
|
rs1883575247
|
|
NM_014363.6(SACS):c.11039T>C (p.Ile3680Thr)
|
|
|
NM_014363.6(SACS):c.11040A>C (p.Ile3680=)
|
rs750092480
|
|
NM_014363.6(SACS):c.11045del (p.Phe3682fs)
|
|
|
NM_014363.6(SACS):c.11052A>G (p.Gly3684=)
|
|
|
NM_014363.6(SACS):c.11064T>C (p.Asn3688=)
|
rs2137569675
|
|
NM_014363.6(SACS):c.11066C>T (p.Pro3689Leu)
|
|
|
NM_014363.6(SACS):c.11079A>G (p.Gln3693=)
|
rs769714986
|
|
NM_014363.6(SACS):c.1107C>T (p.Thr369=)
|
rs762838789
|
|
NM_014363.6(SACS):c.11100A>G (p.Leu3700=)
|
|
|
NM_014363.6(SACS):c.11109C>T (p.Ser3703=)
|
rs1883570677
|
|
NM_014363.6(SACS):c.11109del (p.Cys3704fs)
|
rs2137569412
|
|
NM_014363.6(SACS):c.11124A>T (p.Pro3708=)
|
|
|
NM_014363.6(SACS):c.11127G>A (p.Glu3709=)
|
|
|
NM_014363.6(SACS):c.11130A>G (p.Lys3710=)
|
|
|
NM_014363.6(SACS):c.11135C>T (p.Thr3712Ile)
|
|
|
NM_014363.6(SACS):c.11136del (p.Pro3713_Leu3714insTer)
|
rs2137569225
|
|
NM_014363.6(SACS):c.11139C>T (p.Pro3713=)
|
rs1282794513
|
|
NM_014363.6(SACS):c.1113A>G (p.Val371=)
|
|
|
NM_014363.6(SACS):c.11143A>G (p.Ser3715Gly)
|
|
|
NM_014363.6(SACS):c.11145C>T (p.Ser3715=)
|
|
|
NM_014363.6(SACS):c.11146A>G (p.Ile3716Val)
|
|
|
NM_014363.6(SACS):c.11157del (p.Glu3720fs)
|
|
|
NM_014363.6(SACS):c.11162G>A (p.Gly3721Asp)
|
|
|
NM_014363.6(SACS):c.11163T>C (p.Gly3721=)
|
|
|
NM_014363.6(SACS):c.11165G>A (p.Ser3722Asn)
|
|
|
NM_014363.6(SACS):c.11166_11167del (p.Ser3722fs)
|
rs1883566609
|
|
NM_014363.6(SACS):c.11168A>T (p.Asp3723Val)
|
|
|
NM_014363.6(SACS):c.11175T>C (p.Gly3725=)
|
rs2137568885
|
|
NM_014363.6(SACS):c.11177C>A (p.Pro3726Gln)
|
|
|
NM_014363.6(SACS):c.11181A>G (p.Gln3727=)
|
|
|
NM_014363.6(SACS):c.11187G>A (p.Gln3729=)
|
rs2137568781
|
|
NM_014363.6(SACS):c.11194C>G (p.Gln3732Glu)
|
|
|
NM_014363.6(SACS):c.11194C>T (p.Gln3732Ter)
|
|
|
NM_014363.6(SACS):c.1121_1122del (p.His374fs)
|
|
|
NM_014363.6(SACS):c.11223G>C (p.Leu3741=)
|
|
|
NM_014363.6(SACS):c.11226T>C (p.Asp3742=)
|
rs762007924
|
|
NM_014363.6(SACS):c.11227C>T (p.Pro3743Ser)
|
|
|
NM_014363.6(SACS):c.11229T>A (p.Pro3743=)
|
rs2137568490
|
|
NM_014363.6(SACS):c.1122C>T (p.His374=)
|
rs1261457815
|
|
NM_014363.6(SACS):c.11232T>A (p.Pro3744=)
|
rs1593122516
|
|
NM_014363.6(SACS):c.11235T>C (p.Leu3745=)
|
|
|
NM_014363.6(SACS):c.1123G>A (p.Val375Ile)
|
|
|
NM_014363.6(SACS):c.11245A>G (p.Ile3749Val)
|
|
|
NM_014363.6(SACS):c.11247C>T (p.Ile3749=)
|
rs2137568386
|
|
NM_014363.6(SACS):c.11247_11250del (p.Asn3750fs)
|
rs753205260
|
|
NM_014363.6(SACS):c.11257A>G (p.Arg3753Gly)
|
rs1883560944
|
|
NM_014363.6(SACS):c.11258G>A (p.Arg3753Lys)
|
|
|
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs)
|
rs1400601705
|
|
NM_014363.6(SACS):c.11271C>T (p.Asn3757=)
|
|
|
NM_014363.6(SACS):c.11272A>G (p.Ile3758Val)
|
|
|
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet)
|
|
|
NM_014363.6(SACS):c.11277G>A (p.Thr3759=)
|
|
|
NM_014363.6(SACS):c.11277G>T (p.Thr3759=)
|
rs777278208
|
|
NM_014363.6(SACS):c.11291A>C (p.Glu3764Ala)
|
rs1593122374
|
|
NM_014363.6(SACS):c.11296G>A (p.Val3766Ile)
|
|
|
NM_014363.6(SACS):c.1129A>G (p.Ile377Val)
|
|
|
NM_014363.6(SACS):c.11304T>C (p.Thr3768=)
|
rs2137567832
|
|
NM_014363.6(SACS):c.11310A>G (p.Ala3770=)
|
rs1438596591
|
|
NM_014363.6(SACS):c.11316C>T (p.Val3772=)
|
rs768744922
|
|
NM_014363.6(SACS):c.11317T>C (p.Leu3773=)
|
rs1194302679
|
|
NM_014363.6(SACS):c.11319_11321del (p.Arg3774del)
|
rs1883553503
|
|
NM_014363.6(SACS):c.1131T>C (p.Ile377=)
|
rs2137724827
|
|
NM_014363.6(SACS):c.11323A>G (p.Ser3775Gly)
|
|
|
NM_014363.6(SACS):c.11326A>G (p.Ile3776Val)
|
rs770269690
|
|
NM_014363.6(SACS):c.11334A>G (p.Glu3778=)
|
|
|
NM_014363.6(SACS):c.11335T>A (p.Phe3779Ile)
|
|
|
NM_014363.6(SACS):c.11346A>C (p.Ala3782=)
|
|
|
NM_014363.6(SACS):c.11350A>G (p.Lys3784Glu)
|
|
|
NM_014363.6(SACS):c.11356del (p.Glu3786fs)
|
|
|
NM_014363.6(SACS):c.11358A>G (p.Glu3786=)
|
|
|
NM_014363.6(SACS):c.11371T>A (p.Leu3791Met)
|
|
|
NM_014363.6(SACS):c.11373G>A (p.Leu3791=)
|
rs1883545757
|
|
NM_014363.6(SACS):c.11373dup (p.Arg3792fs)
|
rs1555249904
|
|
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)
|
rs565203731
|
|
NM_014363.6(SACS):c.11375G>A (p.Arg3792Gln)
|
|
|
NM_014363.6(SACS):c.11376A>C (p.Arg3792=)
|
rs1883544819
|
|
NM_014363.6(SACS):c.11376A>G (p.Arg3792=)
|
rs1883544819
|
|
NM_014363.6(SACS):c.11379G>A (p.Gly3793=)
|
|
|
NM_014363.6(SACS):c.11379G>C (p.Gly3793=)
|
rs754896709
|
|
NM_014363.6(SACS):c.1137A>G (p.Leu379=)
|
|
|
NM_014363.6(SACS):c.1137dup (p.Glu380fs)
|
rs1057516987
|
|
NM_014363.6(SACS):c.11392A>G (p.Met3798Val)
|
|
|
NM_014363.6(SACS):c.11392A>T (p.Met3798Leu)
|
|
|
NM_014363.6(SACS):c.1139_1143del (p.Glu380fs)
|
|
|
NM_014363.6(SACS):c.11402A>G (p.Asp3801Gly)
|
|
|
NM_014363.6(SACS):c.11406T>C (p.Gly3802=)
|
|
|
NM_014363.6(SACS):c.11421G>A (p.Lys3807=)
|
rs2137566698
|
|
NM_014363.6(SACS):c.11427G>A (p.Glu3809=)
|
rs2137566654
|
|
NM_014363.6(SACS):c.11430G>A (p.Glu3810=)
|
|
|
NM_014363.6(SACS):c.11436C>T (p.Val3812=)
|
rs1440717272
|
|
NM_014363.6(SACS):c.1143G>A (p.Glu381=)
|
|
|
NM_014363.6(SACS):c.11445A>G (p.Leu3815=)
|
|
|
NM_014363.6(SACS):c.11451T>A (p.Tyr3817Ter)
|
|
|
NM_014363.6(SACS):c.11452G>T (p.Glu3818Ter)
|
|
|
NM_014363.6(SACS):c.11454A>G (p.Glu3818=)
|
|
|
NM_014363.6(SACS):c.11457T>C (p.Ser3819=)
|
|
|
NM_014363.6(SACS):c.11467C>A (p.Pro3823Thr)
|
rs1883537654
|
|
NM_014363.6(SACS):c.11473T>C (p.Leu3825=)
|
rs2137566282
|
|
NM_014363.6(SACS):c.11478C>T (p.Tyr3826=)
|
|
|
NM_014363.6(SACS):c.11482C>T (p.Leu3828=)
|
|
|
NM_014363.6(SACS):c.11488T>A (p.Leu3830Ile)
|
|
|
NM_014363.6(SACS):c.11500A>G (p.Thr3834Ala)
|
|
|
NM_014363.6(SACS):c.11501C>T (p.Thr3834Ile)
|
|
|
NM_014363.6(SACS):c.11506_11521del (p.His3836fs)
|
rs1555249878
|
|
NM_014363.6(SACS):c.11514G>A (p.Leu3838=)
|
rs2137565976
|
|
NM_014363.6(SACS):c.11517C>G (p.Phe3839Leu)
|
|
|
NM_014363.6(SACS):c.11519A>G (p.Lys3840Arg)
|
|
|
NM_014363.6(SACS):c.11522A>G (p.His3841Arg)
|
|
|
NM_014363.6(SACS):c.1152T>C (p.Thr384=)
|
|
|
NM_014363.6(SACS):c.1153A>G (p.Lys385Glu)
|
rs1281714392
|
|
NM_014363.6(SACS):c.11540T>C (p.Ile3847Thr)
|
|
|
NM_014363.6(SACS):c.11559T>C (p.Tyr3853=)
|
rs2137565554
|
|
NM_014363.6(SACS):c.1155G>A (p.Lys385=)
|
rs1489092168
|
|
NM_014363.6(SACS):c.11568G>C (p.Val3856=)
|
rs758545212
|
|
NM_014363.6(SACS):c.11571G>A (p.Leu3857=)
|
rs1335896880
|
|
NM_014363.6(SACS):c.11575C>T (p.Arg3859Cys)
|
|
|
NM_014363.6(SACS):c.11576G>T (p.Arg3859Leu)
|
|
|
NM_014363.6(SACS):c.11578A>G (p.Ile3860Val)
|
|
|
NM_014363.6(SACS):c.11592T>G (p.Ser3864=)
|
rs2137565300
|
|
NM_014363.6(SACS):c.11593G>C (p.Glu3865Gln)
|
|
|
NM_014363.6(SACS):c.11598C>A (p.Gly3866=)
|
rs2137565223
|
|
NM_014363.6(SACS):c.11606T>A (p.Leu3869Ter)
|
rs2137565163
|
|
NM_014363.6(SACS):c.11619A>G (p.Glu3873=)
|
rs2137565097
|
|
NM_014363.6(SACS):c.11628A>C (p.Thr3876=)
|
rs2137565004
|
|
NM_014363.6(SACS):c.11634dup (p.Arg3879fs)
|
|
|
NM_014363.6(SACS):c.11640A>G (p.Val3880=)
|
|
|
NM_014363.6(SACS):c.11652G>A (p.Leu3884=)
|
|
|
NM_014363.6(SACS):c.11652G>C (p.Leu3884=)
|
|
|
NM_014363.6(SACS):c.11652G>T (p.Leu3884=)
|
rs560937205
|
|
NM_014363.6(SACS):c.11665C>T (p.Gln3889Ter)
|
|
|
NM_014363.6(SACS):c.11674dup (p.Ser3892fs)
|
rs2137564626
|
|
NM_014363.6(SACS):c.11679C>T (p.Val3893=)
|
rs755241961
|
|
NM_014363.6(SACS):c.1167A>G (p.Lys389=)
|
rs2137724548
|
|
NM_014363.6(SACS):c.11681A>G (p.Lys3894Arg)
|
|
|
NM_014363.6(SACS):c.11684T>A (p.Val3895Glu)
|
|
|
NM_014363.6(SACS):c.11693A>G (p.Asp3898Gly)
|
|
|
NM_014363.6(SACS):c.11697C>G (p.Leu3899=)
|
rs767957360
|
|
NM_014363.6(SACS):c.11708G>A (p.Arg3903Gln)
|
|
|
NM_014363.6(SACS):c.1170A>C (p.Thr390=)
|
|
|
NM_014363.6(SACS):c.11712C>T (p.Asp3904=)
|
rs1593121789
|
|
NM_014363.6(SACS):c.11715T>C (p.Leu3905=)
|
rs1593121777
|
|
NM_014363.6(SACS):c.11718G>A (p.Ala3906=)
|
rs373803461
|
|
NM_014363.6(SACS):c.11724C>G (p.Tyr3908Ter)
|
rs745740932
|
|
NM_014363.6(SACS):c.11727C>T (p.Leu3909=)
|
|
|
NM_014363.6(SACS):c.11739T>C (p.Asp3913=)
|
|
|
NM_014363.6(SACS):c.1173T>A (p.Ser391=)
|
rs150683286
|
|
NM_014363.6(SACS):c.1173T>G (p.Ser391=)
|
|
|
NM_014363.6(SACS):c.11748G>A (p.Leu3916=)
|
rs2137563945
|
|
NM_014363.6(SACS):c.11749G>A (p.Val3917Ile)
|
|
|
NM_014363.6(SACS):c.11766A>G (p.Leu3922=)
|
rs1593121687
|
|
NM_014363.6(SACS):c.11774A>T (p.Asp3925Val)
|
|
|
NM_014363.6(SACS):c.11778T>C (p.Asp3926=)
|
rs750575268
|
|
NM_014363.6(SACS):c.11787T>C (p.His3929=)
|
|
|
NM_014363.6(SACS):c.11792A>G (p.Lys3931Arg)
|
rs764554878
|
|
NM_014363.6(SACS):c.11808G>T (p.Gly3936=)
|
|
|
NM_014363.6(SACS):c.11814T>C (p.Ile3938=)
|
|
|
NM_014363.6(SACS):c.11848del (p.Tyr3950fs)
|
rs2137563478
|
|
NM_014363.6(SACS):c.11856G>A (p.Gly3952=)
|
rs2137563341
|
|
NM_014363.6(SACS):c.11865T>C (p.His3955=)
|
|
|
NM_014363.6(SACS):c.1186A>G (p.Asn396Asp)
|
|
|
NM_014363.6(SACS):c.11877T>C (p.Thr3959=)
|
|
|
NM_014363.6(SACS):c.1189A>G (p.Ser397Gly)
|
|
|
NM_014363.6(SACS):c.1189dup (p.Ser397fs)
|
|
|
NM_014363.6(SACS):c.11907T>C (p.Leu3969=)
|
|
|
NM_014363.6(SACS):c.11907_11930delinsA (p.Arg3970fs)
|
rs1593121507
|
|
NM_014363.6(SACS):c.11913T>G (p.Pro3971=)
|
|
|
NM_014363.6(SACS):c.11914C>T (p.Arg3972Ter)
|
rs781491486
|
|
NM_014363.6(SACS):c.11915G>A (p.Arg3972Gln)
|
|
|
NM_014363.6(SACS):c.11916A>G (p.Arg3972=)
|
rs2137562654
|
|
NM_014363.6(SACS):c.11919A>G (p.Leu3973=)
|
|
|
NM_014363.6(SACS):c.1191T>C (p.Ser397=)
|
|
|
NM_014363.6(SACS):c.11925C>T (p.Ser3975=)
|
|
|
NM_014363.6(SACS):c.11931A>T (p.Ile3977=)
|
|
|
NM_014363.6(SACS):c.11940A>G (p.Glu3980=)
|
|
|
NM_014363.6(SACS):c.11941C>T (p.Gln3981Ter)
|
rs1593121484
|
|
NM_014363.6(SACS):c.11944T>C (p.Leu3982=)
|
rs2137562392
|
|
NM_014363.6(SACS):c.11946A>G (p.Leu3982=)
|
|
|
NM_014363.6(SACS):c.11958T>A (p.Thr3986=)
|
|
|
NM_014363.6(SACS):c.11963A>G (p.Lys3988Arg)
|
rs1883502413
|
|
NM_014363.6(SACS):c.11965G>T (p.Val3989Phe)
|
|
|
NM_014363.6(SACS):c.11967T>A (p.Val3989=)
|
rs764921350
|
|
NM_014363.6(SACS):c.11981C>T (p.Ala3994Val)
|
|
|
NM_014363.6(SACS):c.11990C>T (p.Ser3997Phe)
|
|
|
NM_014363.6(SACS):c.11991T>C (p.Ser3997=)
|
rs2137562156
|
|
NM_014363.6(SACS):c.11997A>G (p.Gln3999=)
|
|
|
NM_014363.6(SACS):c.12000A>G (p.Gly4000=)
|
|
|
NM_014363.6(SACS):c.12001A>C (p.Arg4001=)
|
|
|
NM_014363.6(SACS):c.12004T>C (p.Leu4002=)
|
rs773165834
|
|
NM_014363.6(SACS):c.12007C>T (p.Gln4003Ter)
|
|
|
NM_014363.6(SACS):c.12009G>A (p.Gln4003=)
|
|
|
NM_014363.6(SACS):c.12025G>A (p.Glu4009Lys)
|
rs990358595
|
|
NM_014363.6(SACS):c.12039A>C (p.Thr4013=)
|
rs2137561682
|
|
NM_014363.6(SACS):c.12039A>G (p.Thr4013=)
|
|
|
NM_014363.6(SACS):c.12042A>G (p.Gly4014=)
|
|
|
NM_014363.6(SACS):c.12045G>C (p.Leu4015=)
|
rs2137561646
|
|
NM_014363.6(SACS):c.1204G>C (p.Gly402Arg)
|
|
|
NM_014363.6(SACS):c.12053T>C (p.Ile4018Thr)
|
|
|
NM_014363.6(SACS):c.12055A>G (p.Met4019Val)
|
|
|
NM_014363.6(SACS):c.12058A>T (p.Lys4020Ter)
|
|
|
NM_014363.6(SACS):c.12060G>A (p.Lys4020=)
|
rs2137561471
|
|
NM_014363.6(SACS):c.12063T>C (p.His4021=)
|
rs886050074
|
|
NM_014363.6(SACS):c.12069T>C (p.Asn4023=)
|
rs747474648
|
|
NM_014363.6(SACS):c.12073A>G (p.Asn4025Asp)
|
rs1883495382
|
|
NM_014363.6(SACS):c.12078T>A (p.Ala4026=)
|
rs1259730258
|
|
NM_014363.6(SACS):c.12087C>T (p.Ala4029=)
|
|
|
NM_014363.6(SACS):c.12089del (p.Asn4030fs)
|
|
|
NM_014363.6(SACS):c.12099A>G (p.Lys4033=)
|
rs753090825
|
|
NM_014363.6(SACS):c.12099A>T (p.Lys4033Asn)
|
|
|
NM_014363.6(SACS):c.12102C>G (p.Ala4034=)
|
rs1359075857
|
|
NM_014363.6(SACS):c.12103A>G (p.Ile4035Val)
|
|
|
NM_014363.6(SACS):c.12106A>T (p.Arg4036Ter)
|
rs2137561134
|
|
NM_014363.6(SACS):c.12114C>T (p.Cys4038=)
|
rs774322849
|
|
NM_014363.6(SACS):c.12121C>T (p.Leu4041=)
|
|
|
NM_014363.6(SACS):c.12123A>G (p.Leu4041=)
|
|
|
NM_014363.6(SACS):c.12126A>G (p.Arg4042=)
|
|
|
NM_014363.6(SACS):c.1212T>C (p.Ser404=)
|
rs1320045340
|
|
NM_014363.6(SACS):c.12156G>A (p.Lys4052=)
|
rs1231366855
|
|
NM_014363.6(SACS):c.1215T>C (p.Ser405=)
|
|
|
NM_014363.6(SACS):c.12162A>G (p.Gln4054=)
|
rs1593121184
|
|
NM_014363.6(SACS):c.12167C>A (p.Thr4056Lys)
|
|
|
NM_014363.6(SACS):c.12168A>G (p.Thr4056=)
|
rs2137560796
|
|
NM_014363.6(SACS):c.12169T>C (p.Leu4057=)
|
|
|
NM_014363.6(SACS):c.12172A>G (p.Arg4058Gly)
|
|
|
NM_014363.6(SACS):c.12175G>A (p.Val4059Ile)
|
|
|
NM_014363.6(SACS):c.12186T>C (p.Phe4062=)
|
rs2137560600
|
|
NM_014363.6(SACS):c.12190C>T (p.Pro4064Ser)
|
|
|
NM_014363.6(SACS):c.12193A>G (p.Ile4065Val)
|
|
|
NM_014363.6(SACS):c.12205A>C (p.Arg4069=)
|
rs772628731
|
|
NM_014363.6(SACS):c.12218_12219del (p.Phe4073fs)
|
rs1555249648
|
|
NM_014363.6(SACS):c.12219T>C (p.Phe4073=)
|
rs1007835171
|
|
NM_014363.6(SACS):c.12231G>A (p.Lys4077=)
|
rs1355094261
|
|
NM_014363.6(SACS):c.12232C>A (p.Arg4078=)
|
rs141315518
|
|
NM_014363.6(SACS):c.12232C>G (p.Arg4078Gly)
|
|
|
NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter)
|
rs141315518
|
|
NM_014363.6(SACS):c.12233G>A (p.Arg4078Gln)
|
|
|
NM_014363.6(SACS):c.12233G>C (p.Arg4078Pro)
|
|
|
NM_014363.6(SACS):c.12242A>G (p.Asn4081Ser)
|
rs1060503432
|
|
NM_014363.6(SACS):c.12243T>C (p.Asn4081=)
|
rs1566056564
|
|
NM_014363.6(SACS):c.12261C>T (p.Tyr4087=)
|
|
|
NM_014363.6(SACS):c.1226_1227del (p.Ser409fs)
|
|
|
NM_014363.6(SACS):c.1227T>C (p.Ser409=)
|
rs2137723941
|
|
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs)
|
rs1057516365
|
|
NM_014363.6(SACS):c.1229T>A (p.Leu410Ter)
|
|
|
NM_014363.6(SACS):c.12309A>T (p.Ala4103=)
|
|
|
NM_014363.6(SACS):c.12315T>G (p.Thr4105=)
|
|
|
NM_014363.6(SACS):c.12318T>C (p.Leu4106=)
|
rs2137559627
|
|
NM_014363.6(SACS):c.12324A>G (p.Ser4108=)
|
|
|
NM_014363.6(SACS):c.12326C>A (p.Ala4109Glu)
|
rs2137559516
|
|
NM_014363.6(SACS):c.12328A>G (p.Thr4110Ala)
|
|
|
NM_014363.6(SACS):c.12333C>T (p.Asp4111=)
|
rs2137559475
|
|
NM_014363.6(SACS):c.12335A>G (p.Asn4112Ser)
|
|
|
NM_014363.6(SACS):c.12336T>C (p.Asn4112=)
|
|
|
NM_014363.6(SACS):c.12345T>C (p.Ser4115=)
|
|
|
NM_014363.6(SACS):c.12345T>G (p.Ser4115=)
|
|
|
NM_014363.6(SACS):c.12348C>T (p.Asp4116=)
|
rs2137559335
|
|
NM_014363.6(SACS):c.12351T>C (p.Thr4117=)
|
|
|
NM_014363.6(SACS):c.12354A>G (p.Ser4118=)
|
rs149691102
|
|
NM_014363.6(SACS):c.12358T>G (p.Leu4120Val)
|
|
|
NM_014363.6(SACS):c.12361A>C (p.Ile4121Leu)
|
|
|
NM_014363.6(SACS):c.12375A>T (p.Gly4125=)
|
rs1436419066
|
|
NM_014363.6(SACS):c.12379A>G (p.Asn4127Asp)
|
|
|
NM_014363.6(SACS):c.12380A>G (p.Asn4127Ser)
|
|
|
NM_014363.6(SACS):c.12387T>A (p.Ile4129=)
|
|
|
NM_014363.6(SACS):c.12390C>T (p.Tyr4130=)
|
|
|
NM_014363.6(SACS):c.12399T>C (p.Gly4133=)
|
rs2137558935
|
|
NM_014363.6(SACS):c.12404A>G (p.Lys4135Arg)
|
|
|
NM_014363.6(SACS):c.1240C>T (p.Leu414=)
|
rs765155455
|
|
NM_014363.6(SACS):c.12413G>A (p.Ser4138Asn)
|
|
|
NM_014363.6(SACS):c.12416dup (p.Leu4139fs)
|
|
|
NM_014363.6(SACS):c.12420A>G (p.Gly4140=)
|
|
|
NM_014363.6(SACS):c.12434C>G (p.Ser4145Cys)
|
|
|
NM_014363.6(SACS):c.12435T>C (p.Ser4145=)
|
|
|
NM_014363.6(SACS):c.12437C>T (p.Ser4146Leu)
|
|
|
NM_014363.6(SACS):c.12441G>A (p.Glu4147=)
|
rs1342375376
|
|
NM_014363.6(SACS):c.12446C>G (p.Ser4149Ter)
|
|
|
NM_014363.6(SACS):c.12456A>G (p.Glu4152=)
|
|
|
NM_014363.6(SACS):c.12466C>T (p.Pro4156Ser)
|
|
|
NM_014363.6(SACS):c.12471C>T (p.Gly4157=)
|
|
|
NM_014363.6(SACS):c.12474A>C (p.Thr4158=)
|
|
|
NM_014363.6(SACS):c.12477A>T (p.Pro4159=)
|
rs2137558251
|
|
NM_014363.6(SACS):c.12492T>A (p.Ile4164=)
|
|
|
NM_014363.6(SACS):c.12498C>T (p.Tyr4166=)
|
rs2137558150
|
|
NM_014363.6(SACS):c.12507T>C (p.Leu4169=)
|
rs1883464496
|
|
NM_014363.6(SACS):c.12532C>T (p.Pro4178Ser)
|
|
|
NM_014363.6(SACS):c.12533C>A (p.Pro4178Gln)
|
|
|
NM_014363.6(SACS):c.12533C>T (p.Pro4178Leu)
|
|
|
NM_014363.6(SACS):c.12534G>A (p.Pro4178=)
|
|
|
NM_014363.6(SACS):c.12534G>T (p.Pro4178=)
|
rs765128892
|
|
NM_014363.6(SACS):c.12536del (p.Gly4179fs)
|
rs2137557859
|
|
NM_014363.6(SACS):c.12540A>G (p.Glu4180=)
|
|
|
NM_014363.6(SACS):c.12549G>A (p.Gly4183=)
|
|
|
NM_014363.6(SACS):c.1254A>G (p.Pro418=)
|
rs750585737
|
|
NM_014363.6(SACS):c.12552C>T (p.Tyr4184=)
|
|
|
NM_014363.6(SACS):c.1256del (p.Ile419fs)
|
|
|
NM_014363.6(SACS):c.12576T>C (p.Asp4192=)
|
rs2137557517
|
|
NM_014363.6(SACS):c.12577A>G (p.Ile4193Val)
|
|
|
NM_014363.6(SACS):c.12578T>A (p.Ile4193Asn)
|
|
|
NM_014363.6(SACS):c.12588A>G (p.Ser4196=)
|
|
|
NM_014363.6(SACS):c.12589T>C (p.Tyr4197His)
|
|
|
NM_014363.6(SACS):c.12603C>A (p.Tyr4201Ter)
|
|
|
NM_014363.6(SACS):c.12609T>C (p.Tyr4203=)
|
rs1446053286
|
|
NM_014363.6(SACS):c.12612A>G (p.Ala4204=)
|
rs2137557183
|
|
NM_014363.6(SACS):c.12613A>G (p.Ile4205Val)
|
|
|
NM_014363.6(SACS):c.12618T>C (p.Ile4206=)
|
rs1883457103
|
|
NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter)
|
rs1555249555
|
|
NM_014363.6(SACS):c.12627A>G (p.Glu4209=)
|
|
|
NM_014363.6(SACS):c.12640G>A (p.Asp4214Asn)
|
|
|
NM_014363.6(SACS):c.1264A>G (p.Ile422Val)
|
|
|
NM_014363.6(SACS):c.12650A>G (p.Asn4217Ser)
|
|
|
NM_014363.6(SACS):c.12661C>T (p.Leu4221=)
|
rs767622491
|
|
NM_014363.6(SACS):c.12673_12677del (p.Tyr4225fs)
|
|
|
NM_014363.6(SACS):c.12677A>T (p.Gln4226Leu)
|
|
|
NM_014363.6(SACS):c.12678G>A (p.Gln4226=)
|
|
|
NM_014363.6(SACS):c.12682G>A (p.Asp4228Asn)
|
|
|
NM_014363.6(SACS):c.12682G>C (p.Asp4228His)
|
rs1447327391
|
|
NM_014363.6(SACS):c.12686T>C (p.Ile4229Thr)
|
|
|
NM_014363.6(SACS):c.12693T>C (p.Tyr4231=)
|
rs1163399365
|
|
NM_014363.6(SACS):c.12702T>C (p.Tyr4234=)
|
rs907197100
|
|
NM_014363.6(SACS):c.12710_12713del (p.Val4237fs)
|
|
|
NM_014363.6(SACS):c.12714C>T (p.Ser4238=)
|
rs1883449068
|
|
NM_014363.6(SACS):c.12717T>C (p.Ser4239=)
|
rs2137556175
|
|
NM_014363.6(SACS):c.12736del (p.Ser4246fs)
|
|
|
NM_014363.6(SACS):c.12738A>G (p.Ser4246=)
|
|
|
NM_014363.6(SACS):c.12741A>G (p.Arg4247=)
|
|
|
NM_014363.6(SACS):c.12753C>T (p.Ser4251=)
|
rs1247851946
|
|
NM_014363.6(SACS):c.12757C>T (p.Gln4253Ter)
|
|
|
NM_014363.6(SACS):c.12766del (p.Asp4256fs)
|
rs1555249479
|
|
NM_014363.6(SACS):c.12775C>G (p.Pro4259Ala)
|
|
|
NM_014363.6(SACS):c.12775C>T (p.Pro4259Ser)
|
|
|
NM_014363.6(SACS):c.12777T>C (p.Pro4259=)
|
|
|
NM_014363.6(SACS):c.12777T>G (p.Pro4259=)
|
|
|
NM_014363.6(SACS):c.12778T>C (p.Ser4260Pro)
|
|
|
NM_014363.6(SACS):c.12779C>G (p.Ser4260Cys)
|
|
|
NM_014363.6(SACS):c.12780T>C (p.Ser4260=)
|
|
|
NM_014363.6(SACS):c.12783A>G (p.Thr4261=)
|
rs2137555437
|
|
NM_014363.6(SACS):c.12787A>C (p.Thr4263Pro)
|
|
|
NM_014363.6(SACS):c.12787A>G (p.Thr4263Ala)
|
|
|
NM_014363.6(SACS):c.12789C>A (p.Thr4263=)
|
|
|
NM_014363.6(SACS):c.12789C>T (p.Thr4263=)
|
|
|
NM_014363.6(SACS):c.1278A>G (p.Leu426=)
|
|
|
NM_014363.6(SACS):c.12807C>T (p.Leu4269=)
|
|
|
NM_014363.6(SACS):c.12809C>T (p.Thr4270Ile)
|
|
|
NM_014363.6(SACS):c.12810C>T (p.Thr4270=)
|
rs1286784591
|
|
NM_014363.6(SACS):c.12811C>T (p.Pro4271Ser)
|
|
|
NM_014363.6(SACS):c.12812C>T (p.Pro4271Leu)
|
rs779668584
|
|
NM_014363.6(SACS):c.12813T>C (p.Pro4271=)
|
|
|
NM_014363.6(SACS):c.12818T>G (p.Leu4273Arg)
|
|
|
NM_014363.6(SACS):c.1281A>T (p.Ser427=)
|
|
|
NM_014363.6(SACS):c.12820A>G (p.Arg4274Gly)
|
rs1566055596
|
|
NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser)
|
rs370655945
|
|
NM_014363.6(SACS):c.12835_12836del (p.Leu4279fs)
|
rs1555249425
|
|
NM_014363.6(SACS):c.12839_12843del (p.Phe4280fs)
|
|
|
NM_014363.6(SACS):c.12839del (p.Phe4280fs)
|
rs1197238841
|
|
NM_014363.6(SACS):c.12849A>G (p.Arg4283=)
|
|
|
NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs)
|
rs786204628
|
|
NM_014363.6(SACS):c.12863C>T (p.Thr4288Ile)
|
|
|
NM_014363.6(SACS):c.12866C>A (p.Ser4289Tyr)
|
|
|
NM_014363.6(SACS):c.12867T>C (p.Ser4289=)
|
rs2137554119
|
|
NM_014363.6(SACS):c.12873A>G (p.Lys4291=)
|
rs2137554075
|
|
NM_014363.6(SACS):c.12875A>C (p.His4292Pro)
|
|
|
NM_014363.6(SACS):c.12884C>A (p.Pro4295His)
|
|
|
NM_014363.6(SACS):c.12884C>T (p.Pro4295Leu)
|
rs781029021
|
|
NM_014363.6(SACS):c.12885C>A (p.Pro4295=)
|
|
|
NM_014363.6(SACS):c.12885C>G (p.Pro4295=)
|
|
|
NM_014363.6(SACS):c.12885C>T (p.Pro4295=)
|
|
|
NM_014363.6(SACS):c.12885dup (p.Lys4296fs)
|
rs2137553918
|
|
NM_014363.6(SACS):c.12894T>G (p.Leu4298=)
|
|
|
NM_014363.6(SACS):c.12896A>G (p.Lys4299Arg)
|
|
|
NM_014363.6(SACS):c.12902A>G (p.Asn4301Ser)
|
|
|
NM_014363.6(SACS):c.12905C>A (p.Ser4302Tyr)
|
rs778808568
|
|
NM_014363.6(SACS):c.12908T>A (p.Leu4303Ter)
|
rs1566055368
|
|
NM_014363.6(SACS):c.1290T>C (p.Asp430=)
|
rs1194352705
|
|
NM_014363.6(SACS):c.12916A>G (p.Ile4306Val)
|
|
|
NM_014363.6(SACS):c.12921A>G (p.Leu4307=)
|
rs2137553613
|
|
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs)
|
rs1057517294
|
|
NM_014363.6(SACS):c.12927A>G (p.Glu4309=)
|
rs1211000585
|
|
NM_014363.6(SACS):c.12934_12935delinsAA (p.Ser4312Asn)
|
|
|
NM_014363.6(SACS):c.12951A>G (p.Ala4317=)
|
rs1258695869
|
|
NM_014363.6(SACS):c.12953G>A (p.Trp4318Ter)
|
|
|
NM_014363.6(SACS):c.12954G>A (p.Trp4318Ter)
|
rs2137553245
|
|
NM_014363.6(SACS):c.12966A>G (p.Glu4322=)
|
rs2137553118
|
|
NM_014363.6(SACS):c.12969G>T (p.Ser4323=)
|
|
|
NM_014363.6(SACS):c.12974G>A (p.Arg4325Gln)
|
|
|
NM_014363.6(SACS):c.12975A>G (p.Arg4325=)
|
rs1883424394
|
|
NM_014363.6(SACS):c.12980del (p.Lys4327fs)
|
rs1555249371
|
|
NM_014363.6(SACS):c.12984T>A (p.Ile4328=)
|
|
|
NM_014363.6(SACS):c.12993G>T (p.Arg4331=)
|
|
|
NM_014363.6(SACS):c.13009C>G (p.His4337Asp)
|
rs1555249362
|
|
NM_014363.6(SACS):c.13024C>T (p.Pro4342Ser)
|
|
|
NM_014363.6(SACS):c.13025C>T (p.Pro4342Leu)
|
|
|
NM_014363.6(SACS):c.1302A>G (p.Lys434=)
|
rs2137723320
|
|
NM_014363.6(SACS):c.13039A>C (p.Ile4347Leu)
|
|
|
NM_014363.6(SACS):c.13042dup (p.Ala4348fs)
|
rs2137552236
|
|
NM_014363.6(SACS):c.13046A>G (p.Asn4349Ser)
|
|
|
NM_014363.6(SACS):c.1305A>G (p.Gly435=)
|
|
|
NM_014363.6(SACS):c.13063T>C (p.Leu4355=)
|
rs1883419699
|
|
NM_014363.6(SACS):c.13064del (p.Leu4355fs)
|
rs2137552117
|
|
NM_014363.6(SACS):c.13077C>A (p.Ile4359=)
|
|
|
NM_014363.6(SACS):c.13079A>T (p.Asn4360Ile)
|
|
|
NM_014363.6(SACS):c.13080C>T (p.Asn4360=)
|
|
|
NM_014363.6(SACS):c.13085T>A (p.Leu4362Ter)
|
rs774995570
|
|
NM_014363.6(SACS):c.13092A>G (p.Lys4364=)
|
rs1478206117
|
|
NM_014363.6(SACS):c.13101T>C (p.Phe4367=)
|
|
|
NM_014363.6(SACS):c.13107T>C (p.Asp4369=)
|
rs1445233565
|
|
NM_014363.6(SACS):c.1310C>G (p.Thr437Arg)
|
rs199657817
|
|
NM_014363.6(SACS):c.13110A>G (p.Gln4370=)
|
rs1593119713
|
|
NM_014363.6(SACS):c.13116A>C (p.Ala4372=)
|
|
|
NM_014363.6(SACS):c.13122G>C (p.Arg4374Ser)
|
rs2137551679
|
|
NM_014363.6(SACS):c.13132C>T (p.Arg4378Ter)
|
rs747868017
|
|
NM_014363.6(SACS):c.13133G>A (p.Arg4378Gln)
|
|
|
NM_014363.6(SACS):c.13143A>G (p.Ser4381=)
|
|
|
NM_014363.6(SACS):c.13146C>T (p.Thr4382=)
|
|
|
NM_014363.6(SACS):c.13157G>A (p.Arg4386Gln)
|
|
|
NM_014363.6(SACS):c.13160T>A (p.Phe4387Tyr)
|
|
|
NM_014363.6(SACS):c.13164G>A (p.Gln4388=)
|
rs751944796
|
|
NM_014363.6(SACS):c.13165T>G (p.Ser4389Ala)
|
rs2137551379
|
|
NM_014363.6(SACS):c.13176C>G (p.Tyr4392Ter)
|
rs1285760809
|
|
NM_014363.6(SACS):c.13176C>T (p.Tyr4392=)
|
rs1285760809
|
|
NM_014363.6(SACS):c.13191C>T (p.Phe4397=)
|
rs758008743
|
|
NM_014363.6(SACS):c.13208_13209del (p.Gln4403fs)
|
rs2137550994
|
|
NM_014363.6(SACS):c.1320C>T (p.Phe440=)
|
|
|
NM_014363.6(SACS):c.13214C>T (p.Ala4405Val)
|
rs1300062381
|
|
NM_014363.6(SACS):c.13217C>T (p.Thr4406Met)
|
|
|
NM_014363.6(SACS):c.13225A>G (p.Lys4409Glu)
|
rs775817492
|
|
NM_014363.6(SACS):c.13226A>G (p.Lys4409Arg)
|
|
|
NM_014363.6(SACS):c.13227A>G (p.Lys4409=)
|
rs745934269
|
|
NM_014363.6(SACS):c.13233A>C (p.Glu4411Asp)
|
|
|
NM_014363.6(SACS):c.13233A>G (p.Glu4411=)
|
|
|
NM_014363.6(SACS):c.13236A>G (p.Arg4412=)
|
rs1883407579
|
|
NM_014363.6(SACS):c.13236_13239del (p.Arg4412fs)
|
|
|
NM_014363.6(SACS):c.13238A>G (p.Gln4413Arg)
|
|
|
NM_014363.6(SACS):c.13244A>G (p.Gln4415Arg)
|
|
|
NM_014363.6(SACS):c.13245G>A (p.Gln4415=)
|
|
|
NM_014363.6(SACS):c.13248C>T (p.Asn4416=)
|
rs2137550538
|
|
NM_014363.6(SACS):c.13252_13253del (p.Glu4418fs)
|
rs1883405453
|
|
NM_014363.6(SACS):c.13259G>T (p.Cys4420Phe)
|
|
|
NM_014363.6(SACS):c.13270G>C (p.Ala4424Pro)
|
|
|
NM_014363.6(SACS):c.13271C>T (p.Ala4424Val)
|
rs1883403045
|
|
NM_014363.6(SACS):c.13276C>T (p.Gln4426Ter)
|
rs1555249276
|
|
NM_014363.6(SACS):c.13278G>A (p.Gln4426=)
|
|
|
NM_014363.6(SACS):c.13281_13282delinsAG (p.Tyr4428Asp)
|
|
|
NM_014363.6(SACS):c.13283dup (p.Tyr4428Ter)
|
rs1057517123
|
|
NM_014363.6(SACS):c.13286C>G (p.Ser4429Cys)
|
rs765818580
|
|
NM_014363.6(SACS):c.13287T>C (p.Ser4429=)
|
|
|
NM_014363.6(SACS):c.13292G>T (p.Arg4431Met)
|
|
|
NM_014363.6(SACS):c.13293G>A (p.Arg4431=)
|
|
|
NM_014363.6(SACS):c.13299T>C (p.Phe4433=)
|
rs1883399448
|
|
NM_014363.6(SACS):c.13304C>T (p.Pro4435Leu)
|
|
|
NM_014363.6(SACS):c.13305T>C (p.Pro4435=)
|
rs2137549857
|
|
NM_014363.6(SACS):c.13308C>A (p.Pro4436=)
|
|
|
NM_014363.6(SACS):c.13316A>G (p.Lys4439Arg)
|
|
|
NM_014363.6(SACS):c.13319C>T (p.Ser4440Leu)
|
|
|
NM_014363.6(SACS):c.13320G>A (p.Ser4440=)
|
rs759847087
|
|
NM_014363.6(SACS):c.13320G>C (p.Ser4440=)
|
rs759847087
|
|
NM_014363.6(SACS):c.13320G>T (p.Ser4440=)
|
|
|
NM_014363.6(SACS):c.1332A>G (p.Ala444=)
|
rs1039811925
|
|
NM_014363.6(SACS):c.13341A>G (p.Ala4447=)
|
|
|
NM_014363.6(SACS):c.13342C>T (p.Arg4448Cys)
|
|
|
NM_014363.6(SACS):c.13342del (p.Arg4448fs)
|
rs2137549635
|
|
NM_014363.6(SACS):c.13343G>A (p.Arg4448His)
|
|
|
NM_014363.6(SACS):c.13352T>C (p.Leu4451Pro)
|
|
|
NM_014363.6(SACS):c.13353A>G (p.Leu4451=)
|
|
|
NM_014363.6(SACS):c.13378_13379delinsTA (p.Ala4460Tyr)
|
rs1566054479
|
|
NM_014363.6(SACS):c.13379C>G (p.Ala4460Gly)
|
|
|
NM_014363.6(SACS):c.13380T>A (p.Ala4460=)
|
|
|
NM_014363.6(SACS):c.13386G>A (p.Arg4462=)
|
|
|
NM_014363.6(SACS):c.13391A>T (p.Asp4464Val)
|
rs1883393913
|
|
NM_014363.6(SACS):c.13397A>G (p.His4466Arg)
|
|
|
NM_014363.6(SACS):c.13409A>G (p.Asn4470Ser)
|
rs757326594
|
|
NM_014363.6(SACS):c.13414dup (p.Trp4472fs)
|
|
|
NM_014363.6(SACS):c.13415G>A (p.Trp4472Ter)
|
|
|
NM_014363.6(SACS):c.13422C>T (p.Cys4474=)
|
|
|
NM_014363.6(SACS):c.13464T>C (p.Ala4488=)
|
rs2137548841
|
|
NM_014363.6(SACS):c.13467C>T (p.Asp4489=)
|
|
|
NM_014363.6(SACS):c.1346del (p.Pro449fs)
|
|
|
NM_014363.6(SACS):c.13473T>C (p.Ala4491=)
|
rs2137548744
|
|
NM_014363.6(SACS):c.13474G>A (p.Val4492Met)
|
rs774647600
|
|
NM_014363.6(SACS):c.13476G>A (p.Val4492=)
|
rs370362235
|
|
NM_014363.6(SACS):c.13482A>C (p.Gly4494=)
|
rs200439163
|
|
NM_014363.6(SACS):c.13487_13488del (p.Lys4495_Ser4496insTer)
|
|
|
NM_014363.6(SACS):c.13500A>G (p.Val4500=)
|
rs2137548578
|
|
NM_014363.6(SACS):c.13503A>C (p.Lys4501Asn)
|
|
|
NM_014363.6(SACS):c.13526T>C (p.Ile4509Thr)
|
|
|
NM_014363.6(SACS):c.13530G>A (p.Glu4510=)
|
|
|
NM_014363.6(SACS):c.13533A>G (p.Glu4511=)
|
rs1593119019
|
|
NM_014363.6(SACS):c.13542G>A (p.Gln4514=)
|
|
|
NM_014363.6(SACS):c.13545A>G (p.Gln4515=)
|
rs1356049808
|
|
NM_014363.6(SACS):c.13557G>C (p.Leu4519=)
|
rs2137548197
|
|
NM_014363.6(SACS):c.13563T>C (p.Asn4521=)
|
rs766497653
|
|
NM_014363.6(SACS):c.13569T>C (p.Val4523=)
|
rs2137548112
|
|
NM_014363.6(SACS):c.13573A>G (p.Thr4525Ala)
|
|
|
NM_014363.6(SACS):c.13575A>G (p.Thr4525=)
|
rs2137548032
|
|
NM_014363.6(SACS):c.13575A>T (p.Thr4525=)
|
rs2137548032
|
|
NM_014363.6(SACS):c.13587T>C (p.Tyr4529=)
|
|
|
NM_014363.6(SACS):c.1358del (p.Gly453fs)
|
rs2137722808
|
|
NM_014363.6(SACS):c.13590T>G (p.Gly4530=)
|
|
|
NM_014363.6(SACS):c.13597A>G (p.Ser4533Gly)
|
|
|
NM_014363.6(SACS):c.13600T>C (p.Leu4534=)
|
|
|
NM_014363.6(SACS):c.13610G>A (p.Arg4537Lys)
|
|
|
NM_014363.6(SACS):c.13614C>A (p.Tyr4538Ter)
|
rs927804920
|
|
NM_014363.6(SACS):c.13614C>T (p.Tyr4538=)
|
rs927804920
|
|
NM_014363.6(SACS):c.13618G>A (p.Asp4540Asn)
|
|
|
NM_014363.6(SACS):c.13629C>G (p.Pro4543=)
|
rs749846446
|
|
NM_014363.6(SACS):c.1363G>A (p.Glu455Lys)
|
|
|
NM_014363.6(SACS):c.13668T>C (p.Val4556=)
|
rs2137547645
|
|
NM_014363.6(SACS):c.13671T>A (p.Ala4557=)
|
rs2137547633
|
|
NM_014363.6(SACS):c.13672A>G (p.Met4558Val)
|
|
|
NM_014363.6(SACS):c.13674G>A (p.Met4558Ile)
|
|
|
NM_014363.6(SACS):c.13680G>T (p.Val4560=)
|
rs2137547578
|
|
NM_014363.6(SACS):c.13686A>G (p.Glu4562=)
|
rs780522946
|
|
NM_014363.6(SACS):c.13699A>G (p.Ile4567Val)
|
|
|
NM_014363.6(SACS):c.1369A>G (p.Ser457Gly)
|
|
|
NM_014363.6(SACS):c.13704A>C (p.Ile4568=)
|
rs1304752867
|
|
NM_014363.6(SACS):c.1370_1371dup (p.Thr458fs)
|
rs765667160
|
|
NM_014363.6(SACS):c.13713T>A (p.Leu4571=)
|
|
|
NM_014363.6(SACS):c.13716A>G (p.Glu4572=)
|
|
|
NM_014363.6(SACS):c.13722T>C (p.Phe4574=)
|
|
|
NM_014363.6(SACS):c.13723A>T (p.Met4575Leu)
|
|
|
NM_014363.6(SACS):c.13725G>A (p.Met4575Ile)
|
|
|
NM_014363.6(SACS):c.13734A>G (p.Lys4578=)
|
|
|
NM_014363.6(SACS):c.13737G>A (p.Val4579=)
|
rs761855750
|
|
NM_014363.6(SACS):c.13738_13739del (p.Ter4580LysextTer?)
|
rs776682685
|
|
NM_014363.6(SACS):c.1380C>T (p.Leu460=)
|
|
|
NM_014363.6(SACS):c.1391T>G (p.Ile464Ser)
|
rs1593144937
|
|
NM_014363.6(SACS):c.1392C>T (p.Ile464=)
|
|
|
NM_014363.6(SACS):c.1393A>G (p.Ser465Gly)
|
|
|
NM_014363.6(SACS):c.1406G>A (p.Gly469Asp)
|
|
|
NM_014363.6(SACS):c.1428C>T (p.Ser476=)
|
rs1870274256
|
|
NM_014363.6(SACS):c.1434A>G (p.Lys478=)
|
rs1593144899
|
|
NM_014363.6(SACS):c.1441G>T (p.Glu481Ter)
|
rs1593144887
|
|
NM_014363.6(SACS):c.1443G>A (p.Glu481=)
|
rs1020930335
|
|
NM_014363.6(SACS):c.1458A>G (p.Arg486=)
|
rs2137722075
|
|
NM_014363.6(SACS):c.1467A>G (p.Ala489=)
|
|
|
NM_014363.6(SACS):c.1479T>C (p.Asn493=)
|
|
|
NM_014363.6(SACS):c.1497T>C (p.Asn499=)
|
rs1285415188
|
|
NM_014363.6(SACS):c.1498G>A (p.Val500Ile)
|
rs1244967438
|
|
NM_014363.6(SACS):c.1503C>T (p.Val501=)
|
|
|
NM_014363.6(SACS):c.1507A>G (p.Lys503Glu)
|
|
|
NM_014363.6(SACS):c.1510G>A (p.Ala504Thr)
|
|
|
NM_014363.6(SACS):c.1512T>C (p.Ala504=)
|
|
|
NM_014363.6(SACS):c.1515T>C (p.Tyr505=)
|
|
|
NM_014363.6(SACS):c.1521T>G (p.Thr507=)
|
rs751762471
|
|
NM_014363.6(SACS):c.1522C>T (p.Leu508=)
|
rs2137721558
|
|
NM_014363.6(SACS):c.1525A>G (p.Ile509Val)
|
rs1566080067
|
|
NM_014363.6(SACS):c.1528T>C (p.Leu510=)
|
rs2137721505
|
|
NM_014363.6(SACS):c.1530A>G (p.Leu510=)
|
|
|
NM_014363.6(SACS):c.1531_1532insT (p.Asp511fs)
|
|
|
NM_014363.6(SACS):c.1533T>C (p.Asp511=)
|
rs778011175
|
|
NM_014363.6(SACS):c.1537A>G (p.Ile513Val)
|
|
|
NM_014363.6(SACS):c.1542dup (p.Arg515fs)
|
rs2137721367
|
|
NM_014363.6(SACS):c.1543C>T (p.Arg515Cys)
|
|
|
NM_014363.6(SACS):c.1544G>A (p.Arg515His)
|
|
|
NM_014363.6(SACS):c.1546C>G (p.Leu516Val)
|
|
|
NM_014363.6(SACS):c.1546C>T (p.Leu516=)
|
|
|
NM_014363.6(SACS):c.1551G>A (p.Glu517=)
|
|
|
NM_014363.6(SACS):c.1555del (p.Glu519fs)
|
rs2137721150
|
|
NM_014363.6(SACS):c.1560G>C (p.Lys520Asn)
|
|
|
NM_014363.6(SACS):c.1563C>T (p.Ser521=)
|
|
|
NM_014363.6(SACS):c.1566T>C (p.Ser522=)
|
|
|
NM_014363.6(SACS):c.1566T>G (p.Ser522=)
|
rs1203606581
|
|
NM_014363.6(SACS):c.1575C>G (p.Pro525=)
|
rs2137720978
|
|
NM_014363.6(SACS):c.1576T>C (p.Leu526=)
|
|
|
NM_014363.6(SACS):c.1581A>G (p.Ser527=)
|
|
|
NM_014363.6(SACS):c.1590T>C (p.Val530=)
|
rs2137720859
|
|
NM_014363.6(SACS):c.1592T>C (p.Ile531Thr)
|
|
|
NM_014363.6(SACS):c.1599G>A (p.Lys533=)
|
rs2137720717
|
|
NM_014363.6(SACS):c.15G>A (p.Glu5=)
|
|
|
NM_014363.6(SACS):c.1600C>G (p.Leu534Val)
|
|
|
NM_014363.6(SACS):c.1617C>T (p.Ser539=)
|
|
|
NM_014363.6(SACS):c.1620del (p.Val541fs)
|
|
|
NM_014363.6(SACS):c.1625A>C (p.Lys542Thr)
|
|
|
NM_014363.6(SACS):c.1627del (p.Val543fs)
|
rs1870251884
|
|
NM_014363.6(SACS):c.1638A>G (p.Gln546=)
|
rs755389972
|
|
NM_014363.6(SACS):c.1643T>C (p.Val548Ala)
|
|
|
NM_014363.6(SACS):c.1647A>G (p.Leu549=)
|
rs942512596
|
|
NM_014363.6(SACS):c.1647dup (p.Glu550fs)
|
|
|
NM_014363.6(SACS):c.1650G>A (p.Glu550=)
|
|
|
NM_014363.6(SACS):c.1654C>G (p.Leu552Val)
|
|
|
NM_014363.6(SACS):c.1654C>T (p.Leu552=)
|
|
|
NM_014363.6(SACS):c.1659C>G (p.Phe553Leu)
|
|
|
NM_014363.6(SACS):c.1662C>A (p.Ser554Arg)
|
|
|
NM_014363.6(SACS):c.1662C>T (p.Ser554=)
|
rs185812845
|
|
NM_014363.6(SACS):c.1672C>G (p.Gln558Glu)
|
|
|
NM_014363.6(SACS):c.1672C>T (p.Gln558Ter)
|
rs923921184
|
|
NM_014363.6(SACS):c.1675A>G (p.Asn559Asp)
|
|
|
NM_014363.6(SACS):c.1693A>C (p.Ile565Leu)
|
rs772240153
|
|
NM_014363.6(SACS):c.1693A>G (p.Ile565Val)
|
|
|
NM_014363.6(SACS):c.1693del (p.Ile565fs)
|
|
|
NM_014363.6(SACS):c.1701T>G (p.Cys567Trp)
|
|
|
NM_014363.6(SACS):c.1702G>A (p.Asp568Asn)
|
|
|
NM_014363.6(SACS):c.1705_1706del (p.Trp569fs)
|
rs2137719772
|
|
NM_014363.6(SACS):c.1706G>A (p.Trp569Ter)
|
rs1555254256
|
|
NM_014363.6(SACS):c.1707G>A (p.Trp569Ter)
|
rs1593144544
|
|
NM_014363.6(SACS):c.1710C>T (p.Val570=)
|
|
|
NM_014363.6(SACS):c.172-11C>A
|
|
|
NM_014363.6(SACS):c.172-11C>T
|
|
|
NM_014363.6(SACS):c.172-12G>T
|
|
|
NM_014363.6(SACS):c.172-18T>G
|
|
|
NM_014363.6(SACS):c.172-20T>G
|
|
|
NM_014363.6(SACS):c.172-4del
|
rs922771267
|
|
NM_014363.6(SACS):c.172-4dup
|
|
|
NM_014363.6(SACS):c.172-8T>C
|
rs2137815970
|
|
NM_014363.6(SACS):c.1720C>T (p.Gln574Ter)
|
|
|
NM_014363.6(SACS):c.1734A>G (p.Ser578=)
|
|
|
NM_014363.6(SACS):c.1752del (p.Glu585fs)
|
rs2137719240
|
|
NM_014363.6(SACS):c.1760C>G (p.Thr587Arg)
|
|
|
NM_014363.6(SACS):c.1761A>G (p.Thr587=)
|
rs2137719149
|
|
NM_014363.6(SACS):c.1769_1770del (p.Val590fs)
|
rs1383333220
|
|
NM_014363.6(SACS):c.1773C>T (p.Leu591=)
|
rs759498792
|
|
NM_014363.6(SACS):c.1775A>G (p.Asn592Ser)
|
|
|
NM_014363.6(SACS):c.1779C>T (p.Tyr593=)
|
|
|
NM_014363.6(SACS):c.177T>G (p.Ser59=)
|
|
|
NM_014363.6(SACS):c.1783C>T (p.Gln595Ter)
|
rs2137718900
|
|
NM_014363.6(SACS):c.1791A>G (p.Ser597=)
|
rs371175405
|
|
NM_014363.6(SACS):c.1794G>A (p.Gly598=)
|
rs1184294805
|
|
NM_014363.6(SACS):c.1794G>C (p.Gly598=)
|
rs1184294805
|
|
NM_014363.6(SACS):c.1806C>T (p.Ala602=)
|
|
|
NM_014363.6(SACS):c.1807A>G (p.Lys603Glu)
|
rs983822008
|
|
NM_014363.6(SACS):c.1812A>G (p.Val604=)
|
rs2137718559
|
|
NM_014363.6(SACS):c.1818G>A (p.Gly606=)
|
|
|
NM_014363.6(SACS):c.1828G>A (p.Ala610Thr)
|
|
|
NM_014363.6(SACS):c.1829C>T (p.Ala610Val)
|
|
|
NM_014363.6(SACS):c.1830T>C (p.Ala610=)
|
|
|
NM_014363.6(SACS):c.1833T>A (p.Ala611=)
|
rs780001448
|
|
NM_014363.6(SACS):c.1833T>C (p.Ala611=)
|
rs780001448
|
|
NM_014363.6(SACS):c.1842C>T (p.Leu614=)
|
rs781774809
|
|
NM_014363.6(SACS):c.1844_1845del (p.Thr615fs)
|
rs2137718161
|
|
NM_014363.6(SACS):c.1853C>T (p.Ser618Phe)
|
|
|
NM_014363.6(SACS):c.1864C>T (p.Pro622Ser)
|
|
|
NM_014363.6(SACS):c.1866T>A (p.Pro622=)
|
|
|
NM_014363.6(SACS):c.186C>T (p.Ile62=)
|
rs2137815857
|
|
NM_014363.6(SACS):c.1872G>A (p.Arg624=)
|
|
|
NM_014363.6(SACS):c.1878G>A (p.Val626=)
|
|
|
NM_014363.6(SACS):c.187A>T (p.Lys63Ter)
|
rs1593157923
|
|
NM_014363.6(SACS):c.1880C>T (p.Thr627Met)
|
|
|
NM_014363.6(SACS):c.1881G>C (p.Thr627=)
|
|
|
NM_014363.6(SACS):c.1887G>A (p.Ala629=)
|
rs772895627
|
|
NM_014363.6(SACS):c.1887G>C (p.Ala629=)
|
|
|
NM_014363.6(SACS):c.1893G>A (p.Val631=)
|
|
|
NM_014363.6(SACS):c.1894C>A (p.Arg632=)
|
|
|
NM_014363.6(SACS):c.1894C>T (p.Arg632Trp)
|
|
|
NM_014363.6(SACS):c.18C>T (p.Asn6=)
|
rs2137962175
|
|
NM_014363.6(SACS):c.1908G>A (p.Arg636=)
|
rs758017143
|
|
NM_014363.6(SACS):c.1911G>A (p.Lys637=)
|
|
|
NM_014363.6(SACS):c.1914T>C (p.Cys638=)
|
|
|
NM_014363.6(SACS):c.1920C>T (p.His640=)
|
rs1870214029
|
|
NM_014363.6(SACS):c.1923G>C (p.Leu641=)
|
|
|
NM_014363.6(SACS):c.193G>A (p.Gly65Arg)
|
|
|
NM_014363.6(SACS):c.1940del (p.Lys647fs)
|
rs1593144167
|
|
NM_014363.6(SACS):c.1947C>T (p.His649=)
|
|
|
NM_014363.6(SACS):c.194G>A (p.Gly65Glu)
|
|
|
NM_014363.6(SACS):c.1950T>C (p.Leu650=)
|
rs2137717099
|
|
NM_014363.6(SACS):c.1956A>G (p.Glu652=)
|
|
|
NM_014363.6(SACS):c.1972C>T (p.Gln658Ter)
|
rs1238606214
|
|
NM_014363.6(SACS):c.1977C>G (p.Ala659=)
|
rs2137716894
|
|
NM_014363.6(SACS):c.1981A>G (p.Ser661Gly)
|
|
|
NM_014363.6(SACS):c.1989G>T (p.Leu663=)
|
rs942220473
|
|
NM_014363.6(SACS):c.1992T>G (p.Leu664=)
|
|
|
NM_014363.6(SACS):c.20+13A>G
|
|
|
NM_014363.6(SACS):c.20+18T>C
|
|
|
NM_014363.6(SACS):c.20+19dup
|
|
|
NM_014363.6(SACS):c.20+7G>T
|
|
|
NM_014363.6(SACS):c.20+9G>A
|
rs749087846
|
|
NM_014363.6(SACS):c.2004G>T (p.Leu668=)
|
|
|
NM_014363.6(SACS):c.2016A>G (p.Gln672=)
|
|
|
NM_014363.6(SACS):c.2019T>C (p.Asn673=)
|
|
|
NM_014363.6(SACS):c.201G>C (p.Leu67=)
|
|
|
NM_014363.6(SACS):c.2028T>C (p.Phe676=)
|
|
|
NM_014363.6(SACS):c.2031C>G (p.Val677=)
|
|
|
NM_014363.6(SACS):c.2034C>A (p.Pro678=)
|
rs772289878
|
|
NM_014363.6(SACS):c.2034C>T (p.Pro678=)
|
rs772289878
|
|
NM_014363.6(SACS):c.2034dup (p.Phe679fs)
|
|
|
NM_014363.6(SACS):c.2043A>C (p.Ser681=)
|
|
|
NM_014363.6(SACS):c.2043A>G (p.Ser681=)
|
|
|
NM_014363.6(SACS):c.204T>A (p.Thr68=)
|
|
|
NM_014363.6(SACS):c.205T>G (p.Ser69Ala)
|
|
|
NM_014363.6(SACS):c.2062G>A (p.Val688Ile)
|
|
|
NM_014363.6(SACS):c.2064C>T (p.Val688=)
|
rs2137716067
|
|
NM_014363.6(SACS):c.2066T>C (p.Ile689Thr)
|
|
|
NM_014363.6(SACS):c.2075C>A (p.Thr692Asn)
|
|
|
NM_014363.6(SACS):c.2076C>T (p.Thr692=)
|
|
|
NM_014363.6(SACS):c.207C>T (p.Ser69=)
|
rs2137815615
|
|
NM_014363.6(SACS):c.2085A>G (p.Glu695=)
|
rs1381278603
|
|
NM_014363.6(SACS):c.2093+19A>G
|
|
|
NM_014363.6(SACS):c.2093+7G>T
|
|
|
NM_014363.6(SACS):c.2093+8T>G
|
|
|
NM_014363.6(SACS):c.2093+9C>A
|
rs1870192787
|
|
NM_014363.6(SACS):c.2093+9C>T
|
|
|
NM_014363.6(SACS):c.2094-10C>G
|
|
|
NM_014363.6(SACS):c.2094-12_2094-11dup
|
|
|
NM_014363.6(SACS):c.2094-14C>T
|
rs886038601
|
|
NM_014363.6(SACS):c.2094-8C>T
|
rs1870138596
|
|
NM_014363.6(SACS):c.2094-9C>T
|
rs1870138747
|
|
NM_014363.6(SACS):c.2097C>T (p.Ser699=)
|
|
|
NM_014363.6(SACS):c.2106A>G (p.Pro702=)
|
|
|
NM_014363.6(SACS):c.210A>G (p.Lys70=)
|
rs2137815590
|
|
NM_014363.6(SACS):c.2112T>C (p.Leu704=)
|
rs1870135106
|
|
NM_014363.6(SACS):c.2112T>G (p.Leu704=)
|
|
|
NM_014363.6(SACS):c.2115A>G (p.Glu705=)
|
rs2137710672
|
|
NM_014363.6(SACS):c.2123T>A (p.Phe708Tyr)
|
|
|
NM_014363.6(SACS):c.2125A>G (p.Ile709Val)
|
|
|
NM_014363.6(SACS):c.2132A>G (p.Asp711Gly)
|
|
|
NM_014363.6(SACS):c.2136C>T (p.Asn712=)
|
|
|
NM_014363.6(SACS):c.2145T>G (p.Pro715=)
|
rs1870132046
|
|
NM_014363.6(SACS):c.2149C>T (p.Leu717Phe)
|
|
|
NM_014363.6(SACS):c.2156C>T (p.Ala719Val)
|
|
|
NM_014363.6(SACS):c.2163A>G (p.Leu721=)
|
rs1471003728
|
|
NM_014363.6(SACS):c.2175C>T (p.Ala725=)
|
rs756363296
|
|
NM_014363.6(SACS):c.2176C>A (p.Gln726Lys)
|
|
|
NM_014363.6(SACS):c.2180C>G (p.Thr727Ser)
|
|
|
NM_014363.6(SACS):c.2181C>T (p.Thr727=)
|
|
|
NM_014363.6(SACS):c.2182C>G (p.Arg728Gly)
|
rs752059006
|
|
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)
|
rs752059006
|
|
NM_014363.6(SACS):c.2185+18T>C
|
|
|
NM_014363.6(SACS):c.2185+8A>G
|
rs1870126120
|
|
NM_014363.6(SACS):c.2185+9G>A
|
rs2137709802
|
|
NM_014363.6(SACS):c.2186-15G>A
|
|
|
NM_014363.6(SACS):c.2186-15G>C
|
|
|
NM_014363.6(SACS):c.2186-18T>G
|
|
|
NM_014363.6(SACS):c.2186-19T>G
|
|
|
NM_014363.6(SACS):c.2186-6T>C
|
rs2137646278
|
|
NM_014363.6(SACS):c.2186-7T>C
|
|
|
NM_014363.6(SACS):c.2186-8A>G
|
rs2137646308
|
|
NM_014363.6(SACS):c.2202G>A (p.Gln734=)
|
|
|
NM_014363.6(SACS):c.2203C>T (p.Leu735=)
|
rs1462906765
|
|
NM_014363.6(SACS):c.2212C>T (p.Leu738=)
|
rs2137646064
|
|
NM_014363.6(SACS):c.2220A>C (p.Pro740=)
|
|
|
NM_014363.6(SACS):c.2220A>G (p.Pro740=)
|
rs772849329
|
|
NM_014363.6(SACS):c.2220A>T (p.Pro740=)
|
rs772849329
|
|
NM_014363.6(SACS):c.2223A>G (p.Glu741=)
|
rs1203567131
|
|
NM_014363.6(SACS):c.2224C>T (p.Arg742Ter)
|
rs1057517285
|
|
NM_014363.6(SACS):c.2232A>C (p.Ala744=)
|
|
|
NM_014363.6(SACS):c.2233C>A (p.Arg745Ser)
|
|
|
NM_014363.6(SACS):c.2233_2235delinsTTC (p.Arg745Phe)
|
rs1869237949
|
|
NM_014363.6(SACS):c.2240T>C (p.Ile747Thr)
|
|
|
NM_014363.6(SACS):c.2244G>A (p.Lys748=)
|
|
|
NM_014363.6(SACS):c.2247A>G (p.Glu749=)
|
|
|
NM_014363.6(SACS):c.2274A>G (p.Arg758=)
|
|
|
NM_014363.6(SACS):c.2280G>A (p.Leu760=)
|
rs2137645428
|
|
NM_014363.6(SACS):c.2281_2284del (p.Ile761fs)
|
rs2137645390
|
|
NM_014363.6(SACS):c.2295T>C (p.Tyr765=)
|
rs2137645257
|
|
NM_014363.6(SACS):c.2298A>G (p.Pro766=)
|
|
|
NM_014363.6(SACS):c.2312G>T (p.Arg771Ile)
|
rs2137645196
|
|
NM_014363.6(SACS):c.2315A>C (p.Asn772Thr)
|
|
|
NM_014363.6(SACS):c.2316T>C (p.Asn772=)
|
rs2137645108
|
|
NM_014363.6(SACS):c.2322A>G (p.Pro774=)
|
rs1869225328
|
|
NM_014363.6(SACS):c.2340G>A (p.Lys780=)
|
|
|
NM_014363.6(SACS):c.2344G>T (p.Val782Phe)
|
|
|
NM_014363.6(SACS):c.2346T>C (p.Val782=)
|
rs1353395473
|
|
NM_014363.6(SACS):c.2352A>G (p.Lys784=)
|
rs2137644764
|
|
NM_014363.6(SACS):c.2356C>A (p.Leu786Ile)
|
rs267603782
|
|
NM_014363.6(SACS):c.2358T>G (p.Leu786=)
|
|
|
NM_014363.6(SACS):c.2360A>G (p.Tyr787Cys)
|
|
|
NM_014363.6(SACS):c.2373A>G (p.Ser791=)
|
rs2137644572
|
|
NM_014363.6(SACS):c.2382G>A (p.Leu794=)
|
|
|
NM_014363.6(SACS):c.2404C>T (p.Leu802Phe)
|
rs1869215579
|
|
NM_014363.6(SACS):c.2414G>C (p.Arg805Thr)
|
|
|
NM_014363.6(SACS):c.2419A>G (p.Ile807Val)
|
|
|
NM_014363.6(SACS):c.2422C>T (p.Leu808=)
|
|
|
NM_014363.6(SACS):c.2425G>C (p.Glu809Gln)
|
|
|
NM_014363.6(SACS):c.2427G>A (p.Glu809=)
|
rs878854978
|
|
NM_014363.6(SACS):c.2428del (p.Glu810fs)
|
|
|
NM_014363.6(SACS):c.2432G>A (p.Gly811Asp)
|
|
|
NM_014363.6(SACS):c.2437A>G (p.Thr813Ala)
|
|
|
NM_014363.6(SACS):c.2451del (p.Ile818fs)
|
rs2137643958
|
|
NM_014363.6(SACS):c.2458C>T (p.Leu820Phe)
|
|
|
NM_014363.6(SACS):c.2460C>G (p.Leu820=)
|
rs761330691
|
|
NM_014363.6(SACS):c.2469A>G (p.Pro823=)
|
|
|
NM_014363.6(SACS):c.2475A>G (p.Leu825=)
|
|
|
NM_014363.6(SACS):c.2478C>G (p.Val826=)
|
rs2137643652
|
|
NM_014363.6(SACS):c.247T>C (p.Leu83=)
|
rs1470292816
|
|
NM_014363.6(SACS):c.2488G>C (p.Asp830His)
|
|
|
NM_014363.6(SACS):c.2490T>C (p.Asp830=)
|
rs1486997377
|
|
NM_014363.6(SACS):c.2511A>G (p.Pro837=)
|
|
|
NM_014363.6(SACS):c.2524G>C (p.Asp842His)
|
|
|
NM_014363.6(SACS):c.2532A>T (p.Val844=)
|
rs756542648
|
|
NM_014363.6(SACS):c.2534A>G (p.Gln845Arg)
|
|
|
NM_014363.6(SACS):c.2538A>G (p.Lys846=)
|
rs1869196715
|
|
NM_014363.6(SACS):c.2548T>C (p.Phe850Leu)
|
|
|
NM_014363.6(SACS):c.2563T>C (p.Leu855=)
|
|
|
NM_014363.6(SACS):c.2565A>C (p.Leu855Phe)
|
|
|
NM_014363.6(SACS):c.2572T>G (p.Ser858Ala)
|
|
|
NM_014363.6(SACS):c.2573C>T (p.Ser858Phe)
|
|
|
NM_014363.6(SACS):c.2574T>G (p.Ser858=)
|
|
|
NM_014363.6(SACS):c.2575A>G (p.Ile859Val)
|
|
|
NM_014363.6(SACS):c.2578C>T (p.Gln860Ter)
|
rs76194641
|
|
NM_014363.6(SACS):c.2583T>C (p.His861=)
|
rs2137642719
|
|
NM_014363.6(SACS):c.259+10T>G
|
|
|
NM_014363.6(SACS):c.259+19C>G
|
|
|
NM_014363.6(SACS):c.2599T>C (p.Tyr867His)
|
rs774682589
|
|
NM_014363.6(SACS):c.260-13C>T
|
|
|
NM_014363.6(SACS):c.260-18A>T
|
|
|
NM_014363.6(SACS):c.260-19_260-18del
|
|
|
NM_014363.6(SACS):c.260-7A>G
|
|
|
NM_014363.6(SACS):c.2613A>G (p.Pro871=)
|
rs2137642425
|
|
NM_014363.6(SACS):c.2616A>G (p.Leu872=)
|
rs1869187977
|
|
NM_014363.6(SACS):c.2619A>G (p.Pro873=)
|
|
|
NM_014363.6(SACS):c.261T>A (p.Gly87=)
|
rs2137800346
|
|
NM_014363.6(SACS):c.2621G>A (p.Ser874Asn)
|
|
|
NM_014363.6(SACS):c.262C>T (p.Arg88Ter)
|
rs1555255676
|
|
NM_014363.6(SACS):c.263G>A (p.Arg88Gln)
|
|
|
NM_014363.6(SACS):c.2649G>A (p.Met883Ile)
|
|
|
NM_014363.6(SACS):c.264A>G (p.Arg88=)
|
|
|
NM_014363.6(SACS):c.2652A>T (p.Pro884=)
|
rs751143652
|
|
NM_014363.6(SACS):c.2655G>A (p.Leu885=)
|
rs2137642005
|
|
NM_014363.6(SACS):c.2656C>T (p.Gln886Ter)
|
|
|
NM_014363.6(SACS):c.2658G>A (p.Gln886=)
|
|
|
NM_014363.6(SACS):c.2658G>T (p.Gln886His)
|
|
|
NM_014363.6(SACS):c.2661A>G (p.Lys887=)
|
rs2137641940
|
|
NM_014363.6(SACS):c.2662T>C (p.Leu888=)
|
rs1212223678
|
|
NM_014363.6(SACS):c.2664G>A (p.Leu888=)
|
|
|
NM_014363.6(SACS):c.2670T>C (p.Asn890=)
|
|
|
NM_014363.6(SACS):c.2682G>T (p.Ser894=)
|
rs369958174
|
|
NM_014363.6(SACS):c.2683C>T (p.Leu895=)
|
|
|
NM_014363.6(SACS):c.2691A>G (p.Pro897=)
|
rs2137641711
|
|
NM_014363.6(SACS):c.2695C>A (p.His899Asn)
|
|
|
NM_014363.6(SACS):c.2695C>G (p.His899Asp)
|
|
|
NM_014363.6(SACS):c.2699_2700del (p.Lys900fs)
|
rs1167474602
|
|
NM_014363.6(SACS):c.270T>G (p.Gly90=)
|
|
|
NM_014363.6(SACS):c.2713A>T (p.Lys905Ter)
|
rs1593133714
|
|
NM_014363.6(SACS):c.2734G>A (p.Asp912Asn)
|
|
|
NM_014363.6(SACS):c.2755del (p.Arg919fs)
|
rs2137641201
|
|
NM_014363.6(SACS):c.2759T>C (p.Ile920Thr)
|
|
|
NM_014363.6(SACS):c.2770T>C (p.Leu924=)
|
rs1869169717
|
|
NM_014363.6(SACS):c.277A>G (p.Thr93Ala)
|
|
|
NM_014363.6(SACS):c.2786G>A (p.Arg929His)
|
|
|
NM_014363.6(SACS):c.2786G>T (p.Arg929Leu)
|
|
|
NM_014363.6(SACS):c.2787C>T (p.Arg929=)
|
|
|
NM_014363.6(SACS):c.278C>T (p.Thr93Met)
|
|
|
NM_014363.6(SACS):c.2799T>C (p.Ser933=)
|
|
|
NM_014363.6(SACS):c.2801C>T (p.Ser934Phe)
|
|
|
NM_014363.6(SACS):c.2812A>G (p.Ile938Val)
|
|
|
NM_014363.6(SACS):c.2814T>C (p.Ile938=)
|
rs909826115
|
|
NM_014363.6(SACS):c.2817C>G (p.Ser939=)
|
|
|
NM_014363.6(SACS):c.2820T>G (p.Ser940=)
|
|
|
NM_014363.6(SACS):c.2823T>C (p.Tyr941=)
|
rs2137640553
|
|
NM_014363.6(SACS):c.2825C>T (p.Thr942Ile)
|
|
|
NM_014363.6(SACS):c.2826A>C (p.Thr942=)
|
|
|
NM_014363.6(SACS):c.2828A>C (p.Lys943Thr)
|
|
|
NM_014363.6(SACS):c.2847C>T (p.Val949=)
|
rs750136982
|
|
NM_014363.6(SACS):c.2851C>A (p.His951Asn)
|
|
|
NM_014363.6(SACS):c.2851C>G (p.His951Asp)
|
|
|
NM_014363.6(SACS):c.2851C>T (p.His951Tyr)
|
|
|
NM_014363.6(SACS):c.2854C>T (p.His952Tyr)
|
|
|
NM_014363.6(SACS):c.285A>G (p.Pro95=)
|
|
|
NM_014363.6(SACS):c.2881C>T (p.Arg961Ter)
|
rs1593133395
|
|
NM_014363.6(SACS):c.2883A>G (p.Arg961=)
|
rs2137639984
|
|
NM_014363.6(SACS):c.288T>C (p.Leu96=)
|
rs1593155706
|
|
NM_014363.6(SACS):c.2890A>G (p.Ile964Val)
|
|
|
NM_014363.6(SACS):c.2895A>G (p.Ser965=)
|
|
|
NM_014363.6(SACS):c.2900T>C (p.Ile967Thr)
|
|
|
NM_014363.6(SACS):c.2903_2906del (p.Asp968fs)
|
rs1259615333
|
|
NM_014363.6(SACS):c.2904C>T (p.Asp968=)
|
rs149585868
|
|
NM_014363.6(SACS):c.2906G>A (p.Ser969Asn)
|
|
|
NM_014363.6(SACS):c.2912A>G (p.Asp971Gly)
|
|
|
NM_014363.6(SACS):c.2918C>G (p.Ala973Gly)
|
|
|
NM_014363.6(SACS):c.2919T>C (p.Ala973=)
|
|
|
NM_014363.6(SACS):c.291T>G (p.Val97=)
|
|
|
NM_014363.6(SACS):c.2923A>G (p.Ile975Val)
|
|
|
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser)
|
rs139993038
|
|
NM_014363.6(SACS):c.2926C>T (p.Arg976Cys)
|
rs139993038
|
|
NM_014363.6(SACS):c.2936A>G (p.Asn979Ser)
|
|
|
NM_014363.6(SACS):c.2938A>C (p.Met980Leu)
|
|
|
NM_014363.6(SACS):c.2947A>G (p.Ile983Val)
|
|
|
NM_014363.6(SACS):c.2950G>T (p.Glu984Ter)
|
rs1869146335
|
|
NM_014363.6(SACS):c.2958A>G (p.Leu986=)
|
rs1310471595
|
|
NM_014363.6(SACS):c.2964C>G (p.Thr988=)
|
rs2137639334
|
|
NM_014363.6(SACS):c.2974T>C (p.Leu992=)
|
rs2137639266
|
|
NM_014363.6(SACS):c.297dup (p.Leu100fs)
|
|
|
NM_014363.6(SACS):c.2982T>C (p.Leu994=)
|
|
|
NM_014363.6(SACS):c.2987T>G (p.Leu996Ter)
|
rs1450257625
|
|
NM_014363.6(SACS):c.2996T>G (p.Ile999Ser)
|
|
|
NM_014363.6(SACS):c.3005_3006insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGATATTGAAAATGC (p.Ala1002_Phe1003insAlaGlyArgGlyGlySerArgLeuTer)
|
rs2137639039
|
|
NM_014363.6(SACS):c.3018T>A (p.His1006Gln)
|
|
|
NM_014363.6(SACS):c.3029_3030insTTAC (p.Gln1011fs)
|
|
|
NM_014363.6(SACS):c.3054G>A (p.Glu1018=)
|
|
|
NM_014363.6(SACS):c.3055A>G (p.Asn1019Asp)
|
rs1566071225
|
|
NM_014363.6(SACS):c.3060A>C (p.Leu1020=)
|
rs746764976
|
|
NM_014363.6(SACS):c.3063T>G (p.Ser1021=)
|
|
|
NM_014363.6(SACS):c.306C>T (p.Asp102=)
|
|
|
NM_014363.6(SACS):c.3082C>G (p.Pro1028Ala)
|
|
|
NM_014363.6(SACS):c.3082C>T (p.Pro1028Ser)
|
|
|
NM_014363.6(SACS):c.3083C>T (p.Pro1028Leu)
|
|
|
NM_014363.6(SACS):c.3094G>T (p.Glu1032Ter)
|
rs1272702356
|
|
NM_014363.6(SACS):c.3108A>G (p.Pro1036=)
|
|
|
NM_014363.6(SACS):c.3109T>C (p.Leu1037=)
|
|
|
NM_014363.6(SACS):c.3120C>T (p.Ile1040=)
|
|
|
NM_014363.6(SACS):c.3126A>T (p.Ile1042=)
|
|
|
NM_014363.6(SACS):c.3130C>T (p.Gln1044Ter)
|
|
|
NM_014363.6(SACS):c.313A>C (p.Arg105=)
|
|
|
NM_014363.6(SACS):c.3142G>A (p.Val1048Ile)
|
|
|
NM_014363.6(SACS):c.3144A>T (p.Val1048=)
|
rs3751369
|
|
NM_014363.6(SACS):c.314G>A (p.Arg105Lys)
|
|
|
NM_014363.6(SACS):c.3156A>G (p.Glu1052=)
|
|
|
NM_014363.6(SACS):c.3159C>G (p.Leu1053=)
|
|
|
NM_014363.6(SACS):c.3165C>T (p.Asp1055=)
|
rs1178311878
|
|
NM_014363.6(SACS):c.3181C>T (p.Leu1061=)
|
|
|
NM_014363.6(SACS):c.3186G>A (p.Lys1062=)
|
rs2137637701
|
|
NM_014363.6(SACS):c.3193T>C (p.Phe1065Leu)
|
|
|
NM_014363.6(SACS):c.3195T>C (p.Phe1065=)
|
|
|
NM_014363.6(SACS):c.3197G>T (p.Cys1066Phe)
|
|
|
NM_014363.6(SACS):c.3200A>G (p.Asn1067Ser)
|
|
|
NM_014363.6(SACS):c.3210A>G (p.Gly1070=)
|
rs2137637430
|
|
NM_014363.6(SACS):c.3213C>G (p.Thr1071=)
|
|
|
NM_014363.6(SACS):c.321T>A (p.Tyr107Ter)
|
|
|
NM_014363.6(SACS):c.3224C>T (p.Pro1075Leu)
|
|
|
NM_014363.6(SACS):c.3235dup (p.Thr1079fs)
|
|
|
NM_014363.6(SACS):c.3237C>T (p.Thr1079=)
|
|
|
NM_014363.6(SACS):c.3240A>C (p.Ser1080=)
|
|
|
NM_014363.6(SACS):c.3243A>G (p.Pro1081=)
|
rs2137637229
|
|
NM_014363.6(SACS):c.3248T>C (p.Ile1083Thr)
|
|
|
NM_014363.6(SACS):c.3255C>T (p.His1085=)
|
rs1593132908
|
|
NM_014363.6(SACS):c.3258C>T (p.Ser1086=)
|
rs1593132899
|
|
NM_014363.6(SACS):c.3270T>C (p.Ile1090=)
|
|
|
NM_014363.6(SACS):c.327A>G (p.Glu109=)
|
rs1285304667
|
|
NM_014363.6(SACS):c.3281dup (p.Asn1094fs)
|
rs2137636957
|
|
NM_014363.6(SACS):c.3283G>A (p.Glu1095Lys)
|
|
|
NM_014363.6(SACS):c.3294C>T (p.Leu1098=)
|
rs1208321395
|
|
NM_014363.6(SACS):c.3304G>A (p.Asp1102Asn)
|
|
|
NM_014363.6(SACS):c.3306T>C (p.Asp1102=)
|
rs759288724
|
|
NM_014363.6(SACS):c.3309T>C (p.Val1103=)
|
rs2137636612
|
|
NM_014363.6(SACS):c.3309dup (p.Val1104fs)
|
rs2137636629
|
|
NM_014363.6(SACS):c.3312G>T (p.Val1104=)
|
rs2137636594
|
|
NM_014363.6(SACS):c.3321A>C (p.Ala1107=)
|
rs1224754869
|
|
NM_014363.6(SACS):c.3328del (p.Ile1110fs)
|
|
|
NM_014363.6(SACS):c.3328dup (p.Ile1110fs)
|
rs770866403
|
|
NM_014363.6(SACS):c.3329T>C (p.Ile1110Thr)
|
rs1869108945
|
|
NM_014363.6(SACS):c.3336C>T (p.Ala1112=)
|
|
|
NM_014363.6(SACS):c.3339A>G (p.Leu1113=)
|
rs773184162
|
|
NM_014363.6(SACS):c.3343dup (p.Val1115fs)
|
rs2137636328
|
|
NM_014363.6(SACS):c.3347G>T (p.Gly1116Val)
|
|
|
NM_014363.6(SACS):c.3356del (p.Pro1119fs)
|
rs1057517039
|
|
NM_014363.6(SACS):c.3357T>C (p.Pro1119=)
|
|
|
NM_014363.6(SACS):c.3370C>T (p.Leu1124Phe)
|
|
|
NM_014363.6(SACS):c.3375G>A (p.Leu1125=)
|
|
|
NM_014363.6(SACS):c.3390C>T (p.Thr1130=)
|
rs1017213900
|
|
NM_014363.6(SACS):c.3391C>G (p.Leu1131Val)
|
|
|
NM_014363.6(SACS):c.3396A>T (p.Leu1132Phe)
|
|
|
NM_014363.6(SACS):c.3396dup (p.Leu1133fs)
|
|
|
NM_014363.6(SACS):c.3401T>C (p.Val1134Ala)
|
|
|
NM_014363.6(SACS):c.3426G>A (p.Leu1142=)
|
|
|
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)
|
rs144267558
|
|
NM_014363.6(SACS):c.3427C>G (p.Gln1143Glu)
|
|
|
NM_014363.6(SACS):c.3429A>G (p.Gln1143=)
|
rs1869096503
|
|
NM_014363.6(SACS):c.3443A>G (p.Lys1148Arg)
|
|
|
NM_014363.6(SACS):c.345+10_345+11del
|
rs2137799720
|
|
NM_014363.6(SACS):c.345+14C>G
|
|
|
NM_014363.6(SACS):c.345+15G>A
|
|
|
NM_014363.6(SACS):c.345+15G>T
|
|
|
NM_014363.6(SACS):c.345+17G>A
|
|
|
NM_014363.6(SACS):c.345+20C>G
|
|
|
NM_014363.6(SACS):c.345+6dup
|
|
|
NM_014363.6(SACS):c.345+7C>T
|
|
|
NM_014363.6(SACS):c.345+8A>C
|
rs2137799749
|
|
NM_014363.6(SACS):c.3451T>C (p.Leu1151=)
|
rs2137635256
|
|
NM_014363.6(SACS):c.346-13del
|
|
|
NM_014363.6(SACS):c.346-15A>G
|
|
|
NM_014363.6(SACS):c.346-15_346-4del
|
|
|
NM_014363.6(SACS):c.346-17G>A
|
rs1417113507
|
|
NM_014363.6(SACS):c.346-17G>T
|
|
|
NM_014363.6(SACS):c.346-19del
|
rs200011804
|
|
NM_014363.6(SACS):c.346-19dup
|
|
|
NM_014363.6(SACS):c.346-5G>A
|
rs80258644
|
|
NM_014363.6(SACS):c.3462A>C (p.Ile1154=)
|
rs2137635207
|
|
NM_014363.6(SACS):c.3464A>C (p.Lys1155Thr)
|
|
|
NM_014363.6(SACS):c.3465A>G (p.Lys1155=)
|
|
|
NM_014363.6(SACS):c.3472C>T (p.Pro1158Ser)
|
|
|
NM_014363.6(SACS):c.3484G>T (p.Glu1162Ter)
|
rs1246013998
|
|
NM_014363.6(SACS):c.3486A>G (p.Glu1162=)
|
|
|
NM_014363.6(SACS):c.3492T>C (p.Pro1164=)
|
|
|
NM_014363.6(SACS):c.3501T>C (p.Tyr1167=)
|
rs2137634940
|
|
NM_014363.6(SACS):c.3504A>C (p.Pro1168=)
|
|
|
NM_014363.6(SACS):c.3504A>G (p.Pro1168=)
|
rs201762114
|
|
NM_014363.6(SACS):c.350del (p.Glu116_Leu117insTer)
|
|
|
NM_014363.6(SACS):c.3511T>C (p.Leu1171=)
|
|
|
NM_014363.6(SACS):c.3513G>A (p.Leu1171=)
|
rs1254853262
|
|
NM_014363.6(SACS):c.3522A>G (p.Lys1174=)
|
|
|
NM_014363.6(SACS):c.3531C>T (p.Leu1177=)
|
rs2137634680
|
|
NM_014363.6(SACS):c.3548C>T (p.Pro1183Leu)
|
|
|
NM_014363.6(SACS):c.3549A>C (p.Pro1183=)
|
|
|
NM_014363.6(SACS):c.3550C>A (p.Pro1184Thr)
|
|
|
NM_014363.6(SACS):c.3564T>C (p.Asp1188=)
|
|
|
NM_014363.6(SACS):c.3569G>C (p.Gly1190Ala)
|
|
|
NM_014363.6(SACS):c.3571C>T (p.His1191Tyr)
|
|
|
NM_014363.6(SACS):c.3577A>G (p.Ile1193Val)
|
|
|
NM_014363.6(SACS):c.357G>A (p.Gln119=)
|
rs2137782233
|
|
NM_014363.6(SACS):c.3582C>T (p.Leu1194=)
|
|
|
NM_014363.6(SACS):c.3583A>G (p.Ile1195Val)
|
|
|
NM_014363.6(SACS):c.3591C>T (p.Ser1197=)
|
rs141920204
|
|
NM_014363.6(SACS):c.360T>C (p.Asn120=)
|
|
|
NM_014363.6(SACS):c.3612T>C (p.Ser1204=)
|
rs2137633912
|
|
NM_014363.6(SACS):c.3616C>T (p.His1206Tyr)
|
|
|
NM_014363.6(SACS):c.3617A>G (p.His1206Arg)
|
|
|
NM_014363.6(SACS):c.3624C>T (p.Asn1208=)
|
rs2137633783
|
|
NM_014363.6(SACS):c.3625C>T (p.Leu1209=)
|
|
|
NM_014363.6(SACS):c.363A>G (p.Ala121=)
|
rs2137782203
|
|
NM_014363.6(SACS):c.3641G>A (p.Gly1214Glu)
|
|
|
NM_014363.6(SACS):c.3642G>A (p.Gly1214=)
|
|
|
NM_014363.6(SACS):c.3645C>T (p.Ile1215=)
|
|
|
NM_014363.6(SACS):c.3650C>G (p.Thr1217Arg)
|
|
|
NM_014363.6(SACS):c.3666T>C (p.Ser1222=)
|
rs370248518
|
|
NM_014363.6(SACS):c.3669T>C (p.Ala1223=)
|
|
|
NM_014363.6(SACS):c.367G>T (p.Asp123Tyr)
|
|
|
NM_014363.6(SACS):c.3684T>C (p.Phe1228=)
|
|
|
NM_014363.6(SACS):c.3689TTG[2] (p.Val1232del)
|
|
|
NM_014363.6(SACS):c.3691G>C (p.Val1231Leu)
|
|
|
NM_014363.6(SACS):c.3693T>C (p.Val1231=)
|
rs1593132311
|
|
NM_014363.6(SACS):c.3699T>C (p.Asp1233=)
|
|
|
NM_014363.6(SACS):c.3702G>A (p.Trp1234Ter)
|
|
|
NM_014363.6(SACS):c.3703T>C (p.Tyr1235His)
|
|
|
NM_014363.6(SACS):c.3729A>C (p.Glu1243Asp)
|
|
|
NM_014363.6(SACS):c.372T>G (p.Ala124=)
|
rs2137782128
|
|
NM_014363.6(SACS):c.3732C>T (p.Asp1244=)
|
rs1369858587
|
|
NM_014363.6(SACS):c.3734A>G (p.Tyr1245Cys)
|
|
|
NM_014363.6(SACS):c.3739C>A (p.Gln1247Lys)
|
rs1869063828
|
|
NM_014363.6(SACS):c.374G>C (p.Gly125Ala)
|
|
|
NM_014363.6(SACS):c.3769G>A (p.Gly1257Arg)
|
|
|
NM_014363.6(SACS):c.3774C>A (p.Phe1258Leu)
|
|
|
NM_014363.6(SACS):c.3778C>G (p.His1260Asp)
|
|
|
NM_014363.6(SACS):c.3778C>T (p.His1260Tyr)
|
|
|
NM_014363.6(SACS):c.377C>G (p.Ala126Gly)
|
rs1476132092
|
|
NM_014363.6(SACS):c.3780T>C (p.His1260=)
|
rs2137632626
|
|
NM_014363.6(SACS):c.3783T>C (p.Asp1261=)
|
|
|
NM_014363.6(SACS):c.378G>A (p.Ala126=)
|
rs574747100
|
|
NM_014363.6(SACS):c.378G>T (p.Ala126=)
|
rs574747100
|
|
NM_014363.6(SACS):c.3797G>A (p.Gly1266Glu)
|
|
|
NM_014363.6(SACS):c.3798G>T (p.Gly1266=)
|
|
|
NM_014363.6(SACS):c.3810T>C (p.Phe1270=)
|
|
|
NM_014363.6(SACS):c.3814G>A (p.Ala1272Thr)
|
|
|
NM_014363.6(SACS):c.3816C>G (p.Ala1272=)
|
rs2137632367
|
|
NM_014363.6(SACS):c.3822A>G (p.Lys1274=)
|
|
|
NM_014363.6(SACS):c.382_383del (p.Glu128fs)
|
rs757179309
|
|
NM_014363.6(SACS):c.3830G>A (p.Trp1277Ter)
|
|
|
NM_014363.6(SACS):c.3832G>A (p.Val1278Ile)
|
|
|
NM_014363.6(SACS):c.3832del (p.Val1278fs)
|
|
|
NM_014363.6(SACS):c.3836G>A (p.Trp1279Ter)
|
rs756963289
|
|
NM_014363.6(SACS):c.3840T>A (p.Thr1280=)
|
rs1319754110
|
|
NM_014363.6(SACS):c.3840T>G (p.Thr1280=)
|
|
|
NM_014363.6(SACS):c.3849G>A (p.Lys1283=)
|
|
|
NM_014363.6(SACS):c.3849G>C (p.Lys1283Asn)
|
|
|
NM_014363.6(SACS):c.3857C>T (p.Pro1286Leu)
|
|
|
NM_014363.6(SACS):c.3858A>G (p.Pro1286=)
|
|
|
NM_014363.6(SACS):c.3864C>T (p.Ala1288=)
|
rs2137631977
|
|
NM_014363.6(SACS):c.3873G>T (p.Val1291=)
|
|
|
NM_014363.6(SACS):c.3876T>C (p.Ile1292=)
|
|
|
NM_014363.6(SACS):c.3886C>G (p.His1296Asp)
|
|
|
NM_014363.6(SACS):c.3909T>C (p.Tyr1303=)
|
rs765281722
|
|
NM_014363.6(SACS):c.3912G>A (p.Leu1304=)
|
rs753675356
|
|
NM_014363.6(SACS):c.3912G>T (p.Leu1304Phe)
|
|
|
NM_014363.6(SACS):c.3915T>C (p.His1305=)
|
rs767598017
|
|
NM_014363.6(SACS):c.3917A>G (p.Asn1306Ser)
|
|
|
NM_014363.6(SACS):c.3930C>A (p.Thr1310=)
|
rs1593132012
|
|
NM_014363.6(SACS):c.3948A>G (p.Gln1316=)
|
|
|
NM_014363.6(SACS):c.3949C>T (p.Leu1317=)
|
|
|
NM_014363.6(SACS):c.394T>C (p.Leu132=)
|
rs553107347
|
|
NM_014363.6(SACS):c.394T>G (p.Leu132Val)
|
|
|
NM_014363.6(SACS):c.3963T>C (p.Cys1321=)
|
|
|
NM_014363.6(SACS):c.3970A>G (p.Ile1324Val)
|
|
|
NM_014363.6(SACS):c.3971T>C (p.Ile1324Thr)
|
|
|
NM_014363.6(SACS):c.397T>C (p.Tyr133His)
|
|
|
NM_014363.6(SACS):c.3991C>A (p.His1331Asn)
|
|
|
NM_014363.6(SACS):c.399T>C (p.Tyr133=)
|
rs755837406
|
|
NM_014363.6(SACS):c.4003G>A (p.Val1335Ile)
|
|
|
NM_014363.6(SACS):c.4011G>A (p.Gln1337=)
|
|
|
NM_014363.6(SACS):c.4018T>C (p.Tyr1340His)
|
|
|
NM_014363.6(SACS):c.4025A>G (p.Lys1342Arg)
|
|
|
NM_014363.6(SACS):c.402T>C (p.Asp134=)
|
rs1870988230
|
|
NM_014363.6(SACS):c.4036G>C (p.Asp1346His)
|
rs753529923
|
|
NM_014363.6(SACS):c.4038T>C (p.Asp1346=)
|
rs2137630805
|
|
NM_014363.6(SACS):c.4069C>A (p.His1357Asn)
|
|
|
NM_014363.6(SACS):c.4095G>A (p.Trp1365Ter)
|
rs1057516779
|
|
NM_014363.6(SACS):c.4098G>T (p.Leu1366=)
|
|
|
NM_014363.6(SACS):c.4107T>C (p.Asn1369=)
|
rs2137630300
|
|
NM_014363.6(SACS):c.410_411del (p.Gln137fs)
|
|
|
NM_014363.6(SACS):c.4113T>A (p.Ile1371=)
|
rs1395418477
|
|
NM_014363.6(SACS):c.4114C>A (p.Pro1372Thr)
|
|
|
NM_014363.6(SACS):c.4117_4118delinsCT (p.Ala1373Leu)
|
rs797045938
|
|
NM_014363.6(SACS):c.4117_4118delinsTA (p.Ala1373Ter)
|
rs797045938
|
|
NM_014363.6(SACS):c.411A>G (p.Gln137=)
|
|
|
NM_014363.6(SACS):c.4143A>T (p.Ile1381=)
|
rs2137630038
|
|
NM_014363.6(SACS):c.4145A>G (p.His1382Arg)
|
rs550057119
|
|
NM_014363.6(SACS):c.4154A>G (p.Lys1385Arg)
|
|
|
NM_014363.6(SACS):c.4161T>C (p.Pro1387=)
|
rs2137629827
|
|
NM_014363.6(SACS):c.4161T>G (p.Pro1387=)
|
rs2137629827
|
|
NM_014363.6(SACS):c.416G>A (p.Gly139Glu)
|
|
|
NM_014363.6(SACS):c.4173C>A (p.Ile1391=)
|
|
|
NM_014363.6(SACS):c.4186C>A (p.His1396Asn)
|
|
|
NM_014363.6(SACS):c.4189G>A (p.Glu1397Lys)
|
|
|
NM_014363.6(SACS):c.4206C>T (p.Asp1402=)
|
|
|
NM_014363.6(SACS):c.4209T>A (p.Ile1403=)
|
rs1869011953
|
|
NM_014363.6(SACS):c.420A>C (p.Thr140=)
|
|
|
NM_014363.6(SACS):c.4215T>C (p.Val1405=)
|
rs1869011481
|
|
NM_014363.6(SACS):c.4216G>A (p.Asp1406Asn)
|
|
|
NM_014363.6(SACS):c.4221C>T (p.Asp1407=)
|
|
|
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter)
|
rs867249938
|
|
NM_014363.6(SACS):c.423G>A (p.Glu141=)
|
|
|
NM_014363.6(SACS):c.4248G>A (p.Val1416=)
|
|
|
NM_014363.6(SACS):c.4251A>G (p.Glu1417=)
|
|
|
NM_014363.6(SACS):c.4259_4263del (p.Ile1420fs)
|
rs1869006331
|
|
NM_014363.6(SACS):c.4261T>C (p.Leu1421=)
|
rs2137629081
|
|
NM_014363.6(SACS):c.426T>C (p.Thr142=)
|
|
|
NM_014363.6(SACS):c.426T>G (p.Thr142=)
|
rs1168227480
|
|
NM_014363.6(SACS):c.4276A>G (p.Ile1426Val)
|
|
|
NM_014363.6(SACS):c.4279C>A (p.Pro1427Thr)
|
rs527513599
|
|
NM_014363.6(SACS):c.427_428del (p.Trp144fs)
|
|
|
NM_014363.6(SACS):c.4293A>G (p.Ala1431=)
|
rs1435062134
|
|
NM_014363.6(SACS):c.429_430del (p.Trp144fs)
|
|
|
NM_014363.6(SACS):c.4300C>T (p.Leu1434=)
|
|
|
NM_014363.6(SACS):c.4311A>G (p.Pro1437=)
|
|
|
NM_014363.6(SACS):c.4314C>T (p.Cys1438=)
|
rs2137628638
|
|
NM_014363.6(SACS):c.4328_4329del (p.Leu1443fs)
|
|
|
NM_014363.6(SACS):c.4341A>G (p.Glu1447=)
|
|
|
NM_014363.6(SACS):c.4354G>A (p.Glu1452Lys)
|
|
|
NM_014363.6(SACS):c.4356G>A (p.Glu1452=)
|
rs2137628388
|
|
NM_014363.6(SACS):c.4359G>A (p.Gln1453=)
|
|
|
NM_014363.6(SACS):c.435A>G (p.Ser145=)
|
rs1870983913
|
|
NM_014363.6(SACS):c.4361C>G (p.Ser1454Ter)
|
|
|
NM_014363.6(SACS):c.4371_4374del (p.Arg1457fs)
|
rs2137628257
|
|
NM_014363.6(SACS):c.4377A>C (p.Pro1459=)
|
|
|
NM_014363.6(SACS):c.4383T>C (p.Thr1461=)
|
rs2137628150
|
|
NM_014363.6(SACS):c.4393A>T (p.Lys1465Ter)
|
|
|
NM_014363.6(SACS):c.4413C>T (p.Tyr1471=)
|
rs2137627934
|
|
NM_014363.6(SACS):c.4414C>A (p.Pro1472Thr)
|
|
|
NM_014363.6(SACS):c.442A>G (p.Met148Val)
|
|
|
NM_014363.6(SACS):c.4434T>C (p.Phe1478=)
|
rs545103369
|
|
NM_014363.6(SACS):c.4437A>G (p.Lys1479=)
|
|
|
NM_014363.6(SACS):c.4440A>G (p.Glu1480=)
|
rs1477679960
|
|
NM_014363.6(SACS):c.4441C>T (p.Leu1481=)
|
|
|
NM_014363.6(SACS):c.4443A>G (p.Leu1481=)
|
|
|
NM_014363.6(SACS):c.4457A>T (p.Asp1486Val)
|
rs2137627584
|
|
NM_014363.6(SACS):c.4465A>C (p.Asn1489His)
|
|
|
NM_014363.6(SACS):c.4465A>G (p.Asn1489Asp)
|
|
|
NM_014363.6(SACS):c.4473A>G (p.Thr1491=)
|
|
|
NM_014363.6(SACS):c.4479C>T (p.Cys1493=)
|
rs1208272610
|
|
NM_014363.6(SACS):c.4482T>C (p.Ser1494=)
|
|
|
NM_014363.6(SACS):c.4488G>A (p.Leu1496=)
|
rs770743092
|
|
NM_014363.6(SACS):c.4489A>G (p.Ile1497Val)
|
|
|
NM_014363.6(SACS):c.4491T>G (p.Ile1497Met)
|
|
|
NM_014363.6(SACS):c.4494_4498del (p.Asp1498fs)
|
|
|
NM_014363.6(SACS):c.4495A>T (p.Met1499Leu)
|
|
|
NM_014363.6(SACS):c.4501A>C (p.Arg1501=)
|
|
|
NM_014363.6(SACS):c.4505A>T (p.Asn1502Ile)
|
rs1246233364
|
|
NM_014363.6(SACS):c.4507A>G (p.Met1503Val)
|
|
|
NM_014363.6(SACS):c.450A>G (p.Pro150=)
|
|
|
NM_014363.6(SACS):c.4519G>C (p.Glu1507Gln)
|
|
|
NM_014363.6(SACS):c.4519_4522del (p.Glu1507fs)
|
rs1307665214
|
|
NM_014363.6(SACS):c.4536A>G (p.Pro1512=)
|
rs1458404801
|
|
NM_014363.6(SACS):c.4538G>C (p.Gly1513Ala)
|
|
|
NM_014363.6(SACS):c.4539G>A (p.Gly1513=)
|
rs2137626779
|
|
NM_014363.6(SACS):c.4539del (p.Met1514fs)
|
|
|
NM_014363.6(SACS):c.453T>A (p.Tyr151Ter)
|
rs2137781223
|
|
NM_014363.6(SACS):c.453T>C (p.Tyr151=)
|
|
|
NM_014363.6(SACS):c.4554T>C (p.His1518=)
|
|
|
NM_014363.6(SACS):c.4565_4568del (p.Leu1522fs)
|
rs1555252349
|
|
NM_014363.6(SACS):c.457+14A>G
|
|
|
NM_014363.6(SACS):c.457+17A>G
|
|
|
NM_014363.6(SACS):c.457+7A>G
|
|
|
NM_014363.6(SACS):c.457+9C>A
|
rs2137781156
|
|
NM_014363.6(SACS):c.4578C>T (p.Asn1526=)
|
rs2137626534
|
|
NM_014363.6(SACS):c.458-15C>T
|
|
|
NM_014363.6(SACS):c.458-16G>A
|
|
|
NM_014363.6(SACS):c.458-20C>T
|
|
|
NM_014363.6(SACS):c.458-2A>C
|
rs2137743517
|
|
NM_014363.6(SACS):c.458-5C>T
|
rs2137743552
|
|
NM_014363.6(SACS):c.458-6A>G
|
rs2137743565
|
|
NM_014363.6(SACS):c.458-8A>G
|
rs2137743585
|
|
NM_014363.6(SACS):c.4583C>G (p.Ser1528Cys)
|
|
|
NM_014363.6(SACS):c.4587A>G (p.Gln1529=)
|
rs1868971659
|
|
NM_014363.6(SACS):c.4592C>T (p.Ser1531Leu)
|
|
|
NM_014363.6(SACS):c.459G>T (p.Gly153=)
|
|
|
NM_014363.6(SACS):c.4605T>G (p.Phe1535Leu)
|
|
|
NM_014363.6(SACS):c.4606G>A (p.Val1536Met)
|
|
|
NM_014363.6(SACS):c.4614A>T (p.Ile1538=)
|
rs2137626085
|
|
NM_014363.6(SACS):c.4621T>C (p.Leu1541=)
|
|
|
NM_014363.6(SACS):c.4632T>C (p.Ser1544=)
|
rs746782287
|
|
NM_014363.6(SACS):c.4639dup (p.Arg1547fs)
|
|
|
NM_014363.6(SACS):c.4651G>A (p.Asp1551Asn)
|
|
|
NM_014363.6(SACS):c.4652A>G (p.Asp1551Gly)
|
|
|
NM_014363.6(SACS):c.4654A>C (p.Lys1552Gln)
|
|
|
NM_014363.6(SACS):c.4656A>G (p.Lys1552=)
|
|
|
NM_014363.6(SACS):c.4668T>C (p.Phe1556=)
|
rs2137625592
|
|
NM_014363.6(SACS):c.466_469del (p.Leu156fs)
|
|
|
NM_014363.6(SACS):c.4671T>C (p.Gly1557=)
|
|
|
NM_014363.6(SACS):c.4674T>C (p.Leu1558=)
|
|
|
NM_014363.6(SACS):c.4686T>G (p.Ser1562=)
|
|
|
NM_014363.6(SACS):c.4695T>C (p.His1565=)
|
|
|
NM_014363.6(SACS):c.4698C>A (p.Ile1566=)
|
|
|
NM_014363.6(SACS):c.4698C>T (p.Ile1566=)
|
rs1868956874
|
|
NM_014363.6(SACS):c.4701del (p.Asp1568fs)
|
|
|
NM_014363.6(SACS):c.4707T>C (p.Ile1569=)
|
rs1437241759
|
|
NM_014363.6(SACS):c.470_471del (p.Tyr157fs)
|
rs1444216187
|
|
NM_014363.6(SACS):c.4711A>T (p.Ile1571Phe)
|
|
|
NM_014363.6(SACS):c.4744G>C (p.Asp1582His)
|
|
|
NM_014363.6(SACS):c.4753A>G (p.Ile1585Val)
|
rs2137624716
|
|
NM_014363.6(SACS):c.4755A>C (p.Ile1585=)
|
|
|
NM_014363.6(SACS):c.4756_4760del (p.Asn1586fs)
|
rs765361868
|
|
NM_014363.6(SACS):c.4770A>G (p.Lys1590=)
|
|
|
NM_014363.6(SACS):c.4775_4776del (p.Ile1592fs)
|
rs2137624455
|
|
NM_014363.6(SACS):c.477C>A (p.Tyr159Ter)
|
|
|
NM_014363.6(SACS):c.477C>T (p.Tyr159=)
|
rs1870531490
|
|
NM_014363.6(SACS):c.4797G>A (p.Gly1599=)
|
|
|
NM_014363.6(SACS):c.4797G>T (p.Gly1599=)
|
|
|
NM_014363.6(SACS):c.4807A>G (p.Asn1603Asp)
|
|
|
NM_014363.6(SACS):c.4821A>G (p.Gln1607=)
|
rs2137624161
|
|
NM_014363.6(SACS):c.4828A>C (p.Arg1610=)
|
rs2137624139
|
|
NM_014363.6(SACS):c.4839A>G (p.Lys1613=)
|
rs1450484419
|
|
NM_014363.6(SACS):c.484G>A (p.Ala162Thr)
|
|
|
NM_014363.6(SACS):c.4860A>G (p.Pro1620=)
|
rs747465682
|
|
NM_014363.6(SACS):c.4864A>G (p.Ile1622Val)
|
|
|
NM_014363.6(SACS):c.4869T>C (p.Asp1623=)
|
|
|
NM_014363.6(SACS):c.486G>T (p.Ala162=)
|
rs775081172
|
|
NM_014363.6(SACS):c.4870G>T (p.Val1624Leu)
|
|
|
NM_014363.6(SACS):c.4872A>G (p.Val1624=)
|
rs758775714
|
|
NM_014363.6(SACS):c.4875T>C (p.Phe1625=)
|
|
|
NM_014363.6(SACS):c.4881T>C (p.Cys1627=)
|
|
|
NM_014363.6(SACS):c.4885T>C (p.Leu1629=)
|
|
|
NM_014363.6(SACS):c.4888C>G (p.Pro1630Ala)
|
|
|
NM_014363.6(SACS):c.4890T>C (p.Pro1630=)
|
|
|
NM_014363.6(SACS):c.4890T>G (p.Pro1630=)
|
|
|
NM_014363.6(SACS):c.4891T>C (p.Leu1631=)
|
|
|
NM_014363.6(SACS):c.4893G>C (p.Leu1631Phe)
|
|
|
NM_014363.6(SACS):c.4894A>C (p.Thr1632Pro)
|
|
|
NM_014363.6(SACS):c.4904C>T (p.Ala1635Val)
|
|
|
NM_014363.6(SACS):c.4910dup (p.Tyr1637Ter)
|
|
|
NM_014363.6(SACS):c.4917T>C (p.Tyr1639=)
|
|
|
NM_014363.6(SACS):c.4920T>C (p.Asn1640=)
|
rs1868928685
|
|
NM_014363.6(SACS):c.4926C>G (p.Thr1642=)
|
rs1183192870
|
|
NM_014363.6(SACS):c.4926C>T (p.Thr1642=)
|
rs1183192870
|
|
NM_014363.6(SACS):c.4932C>T (p.Phe1644=)
|
|
|
NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter)
|
rs770901638
|
|
NM_014363.6(SACS):c.4934G>A (p.Arg1645Gln)
|
|
|
NM_014363.6(SACS):c.4937del (p.Leu1646fs)
|
|
|
NM_014363.6(SACS):c.4938G>T (p.Leu1646=)
|
|
|
NM_014363.6(SACS):c.4951C>T (p.Gln1651Ter)
|
rs2137623007
|
|
NM_014363.6(SACS):c.4953A>G (p.Gln1651=)
|
|
|
NM_014363.6(SACS):c.495C>T (p.Thr165=)
|
rs2137743071
|
|
NM_014363.6(SACS):c.4971T>C (p.Ser1657=)
|
rs1593130707
|
|
NM_014363.6(SACS):c.4977T>C (p.Val1659=)
|
|
|
NM_014363.6(SACS):c.4982G>A (p.Ser1661Asn)
|
|
|
NM_014363.6(SACS):c.4986G>A (p.Thr1662=)
|
rs755523201
|
|
NM_014363.6(SACS):c.4986G>C (p.Thr1662=)
|
|
|
NM_014363.6(SACS):c.498A>G (p.Pro166=)
|
rs1870528398
|
|
NM_014363.6(SACS):c.4992C>T (p.Tyr1664=)
|
rs1158968797
|
|
NM_014363.6(SACS):c.5004T>C (p.Asp1668=)
|
|
|
NM_014363.6(SACS):c.5008_5011del (p.Tyr1670fs)
|
rs2137622518
|
|
NM_014363.6(SACS):c.5012C>T (p.Ser1671Phe)
|
|
|
NM_014363.6(SACS):c.5013T>A (p.Ser1671=)
|
|
|
NM_014363.6(SACS):c.5028T>C (p.Phe1676=)
|
|
|
NM_014363.6(SACS):c.5032C>T (p.Leu1678Phe)
|
|
|
NM_014363.6(SACS):c.5033T>A (p.Leu1678His)
|
|
|
NM_014363.6(SACS):c.5034C>T (p.Leu1678=)
|
|
|
NM_014363.6(SACS):c.5035T>A (p.Cys1679Ser)
|
|
|
NM_014363.6(SACS):c.5040A>G (p.Gly1680=)
|
|
|
NM_014363.6(SACS):c.5043C>T (p.His1681=)
|
rs1868915593
|
|
NM_014363.6(SACS):c.5063dup (p.Ser1689fs)
|
|
|
NM_014363.6(SACS):c.5065_5066del (p.Ser1689fs)
|
rs1372213267
|
|
NM_014363.6(SACS):c.5070A>G (p.Val1690=)
|
rs773360433
|
|
NM_014363.6(SACS):c.5075C>A (p.Ser1692Ter)
|
rs1555252184
|
|
NM_014363.6(SACS):c.5077A>G (p.Met1693Val)
|
|
|
NM_014363.6(SACS):c.5079G>A (p.Met1693Ile)
|
rs775069857
|
|
NM_014363.6(SACS):c.5091C>T (p.Tyr1697=)
|
rs1868910034
|
|
NM_014363.6(SACS):c.5092T>C (p.Leu1698=)
|
|
|
NM_014363.6(SACS):c.5099T>C (p.Ile1700Thr)
|
|
|
NM_014363.6(SACS):c.5103G>A (p.Glu1701=)
|
rs2137621687
|
|
NM_014363.6(SACS):c.5104G>A (p.Glu1702Lys)
|
|
|
NM_014363.6(SACS):c.511G>A (p.Gly171Ser)
|
|
|
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter)
|
rs1057517311
|
|
NM_014363.6(SACS):c.5132C>T (p.Thr1711Ile)
|
|
|
NM_014363.6(SACS):c.5141T>C (p.Ile1714Thr)
|
rs2137621295
|
|
NM_014363.6(SACS):c.5141_5144del (p.Ile1714fs)
|
|
|
NM_014363.6(SACS):c.5151A>G (p.Lys1717=)
|
|
|
NM_014363.6(SACS):c.5151del (p.Lys1717fs)
|
rs754439135
|
|
NM_014363.6(SACS):c.5151dup (p.Ser1718fs)
|
rs754439135
|
|
NM_014363.6(SACS):c.5154C>T (p.Ser1718=)
|
|
|
NM_014363.6(SACS):c.5163del (p.Ala1723fs)
|
|
|
NM_014363.6(SACS):c.5170T>C (p.Leu1724=)
|
|
|
NM_014363.6(SACS):c.5172_5173delinsTGGAACACAAAG (p.Leu1724fs)
|
rs1868900449
|
|
NM_014363.6(SACS):c.5173A>G (p.Asn1725Asp)
|
|
|
NM_014363.6(SACS):c.5175C>A (p.Asn1725Lys)
|
|
|
NM_014363.6(SACS):c.5175C>T (p.Asn1725=)
|
|
|
NM_014363.6(SACS):c.5178A>C (p.Thr1726=)
|
|
|
NM_014363.6(SACS):c.5179C>T (p.Pro1727Ser)
|
|
|
NM_014363.6(SACS):c.517C>T (p.Gln173Ter)
|
rs1593147785
|
|
NM_014363.6(SACS):c.5181T>C (p.Pro1727=)
|
|
|
NM_014363.6(SACS):c.5182G>A (p.Val1728Ile)
|
|
|
NM_014363.6(SACS):c.5184C>T (p.Val1728=)
|
rs766460230
|
|
NM_014363.6(SACS):c.5185T>C (p.Leu1729=)
|
|
|
NM_014363.6(SACS):c.5188A>C (p.Ser1730Arg)
|
|
|
NM_014363.6(SACS):c.519A>G (p.Gln173=)
|
|
|
NM_014363.6(SACS):c.5203G>A (p.Ala1735Thr)
|
|
|
NM_014363.6(SACS):c.5226C>T (p.Cys1742=)
|
rs770106641
|
|
NM_014363.6(SACS):c.5229C>T (p.Ser1743=)
|
|
|
NM_014363.6(SACS):c.5239A>C (p.Lys1747Gln)
|
|
|
NM_014363.6(SACS):c.5241A>G (p.Lys1747=)
|
rs2137620327
|
|
NM_014363.6(SACS):c.5244G>A (p.Lys1748=)
|
|
|
NM_014363.6(SACS):c.5262A>G (p.Pro1754=)
|
|
|
NM_014363.6(SACS):c.5263A>G (p.Lys1755Glu)
|
|
|
NM_014363.6(SACS):c.5277T>C (p.Ile1759=)
|
rs2137620095
|
|
NM_014363.6(SACS):c.5301del (p.His1768fs)
|
|
|
NM_014363.6(SACS):c.5302C>T (p.His1768Tyr)
|
rs758381112
|
|
NM_014363.6(SACS):c.5304_5306del (p.His1769del)
|
rs1555252136
|
|
NM_014363.6(SACS):c.5306A>G (p.His1769Arg)
|
|
|
NM_014363.6(SACS):c.5308G>A (p.Val1770Met)
|
|
|
NM_014363.6(SACS):c.5320A>T (p.Ile1774Phe)
|
|
|
NM_014363.6(SACS):c.5328T>A (p.Asp1776Glu)
|
|
|
NM_014363.6(SACS):c.5328T>C (p.Asp1776=)
|
|
|
NM_014363.6(SACS):c.5336C>T (p.Ser1779Leu)
|
|
|
NM_014363.6(SACS):c.5340A>T (p.Pro1780=)
|
rs1195719474
|
|
NM_014363.6(SACS):c.5355A>T (p.Pro1785=)
|
|
|
NM_014363.6(SACS):c.5357A>G (p.Asp1786Gly)
|
|
|
NM_014363.6(SACS):c.535A>G (p.Arg179Gly)
|
|
|
NM_014363.6(SACS):c.5364C>T (p.Asp1788=)
|
rs770178890
|
|
NM_014363.6(SACS):c.5374C>T (p.Leu1792Phe)
|
|
|
NM_014363.6(SACS):c.5376C>A (p.Leu1792=)
|
|
|
NM_014363.6(SACS):c.5379del (p.Phe1793fs)
|
rs1057517297
|
|
NM_014363.6(SACS):c.5380del (p.Glu1794fs)
|
|
|
NM_014363.6(SACS):c.5388T>G (p.Ala1796=)
|
rs770598686
|
|
NM_014363.6(SACS):c.5393_5394del (p.Ser1798fs)
|
rs2137619202
|
|
NM_014363.6(SACS):c.5405_5408del (p.Lys1802fs)
|
|
|
NM_014363.6(SACS):c.540A>G (p.Lys180=)
|
rs999767217
|
|
NM_014363.6(SACS):c.5421G>A (p.Glu1807=)
|
rs2137619035
|
|
NM_014363.6(SACS):c.5424G>A (p.Leu1808=)
|
|
|
NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter)
|
rs1868872666
|
|
NM_014363.6(SACS):c.543G>A (p.Lys181=)
|
|
|
NM_014363.6(SACS):c.5440_5449del (p.Glu1814fs)
|
rs1566067485
|
|
NM_014363.6(SACS):c.5443T>C (p.Cys1815Arg)
|
|
|
NM_014363.6(SACS):c.5450C>T (p.Thr1817Met)
|
rs898102157
|
|
NM_014363.6(SACS):c.5451G>A (p.Thr1817=)
|
rs1255397727
|
|
NM_014363.6(SACS):c.5457T>G (p.Leu1819=)
|
rs2137618681
|
|
NM_014363.6(SACS):c.5460G>C (p.Leu1820=)
|
|
|
NM_014363.6(SACS):c.5462G>A (p.Cys1821Tyr)
|
|
|
NM_014363.6(SACS):c.5468G>T (p.Cys1823Phe)
|
rs967386746
|
|
NM_014363.6(SACS):c.5478A>G (p.Thr1826=)
|
|
|
NM_014363.6(SACS):c.5482G>T (p.Glu1828Ter)
|
|
|
NM_014363.6(SACS):c.5484G>A (p.Glu1828=)
|
|
|
NM_014363.6(SACS):c.5488C>T (p.Leu1830=)
|
rs1868863069
|
|
NM_014363.6(SACS):c.5493G>A (p.Lys1831=)
|
rs1593129949
|
|
NM_014363.6(SACS):c.5496T>C (p.Phe1832=)
|
|
|
NM_014363.6(SACS):c.5498C>T (p.Ser1833Phe)
|
|
|
NM_014363.6(SACS):c.5499C>T (p.Ser1833=)
|
|
|
NM_014363.6(SACS):c.5505T>C (p.Ser1835=)
|
rs1868861379
|
|
NM_014363.6(SACS):c.5510G>A (p.Ser1837Asn)
|
|
|
NM_014363.6(SACS):c.5518A>C (p.Arg1840=)
|
|
|
NM_014363.6(SACS):c.5522T>C (p.Leu1841Pro)
|
|
|
NM_014363.6(SACS):c.5527C>T (p.Leu1843=)
|
rs2137618089
|
|
NM_014363.6(SACS):c.5529G>A (p.Leu1843=)
|
|
|
NM_014363.6(SACS):c.5541G>A (p.Gly1847=)
|
|
|
NM_014363.6(SACS):c.554T>G (p.Leu185Arg)
|
|
|
NM_014363.6(SACS):c.5550A>T (p.Gly1850=)
|
|
|
NM_014363.6(SACS):c.5554C>T (p.Gln1852Ter)
|
|
|
NM_014363.6(SACS):c.5556G>A (p.Gln1852=)
|
|
|
NM_014363.6(SACS):c.5576A>G (p.Gln1859Arg)
|
|
|
NM_014363.6(SACS):c.5580G>A (p.Lys1860=)
|
|
|
NM_014363.6(SACS):c.5585C>G (p.Thr1862Arg)
|
|
|
NM_014363.6(SACS):c.5587G>A (p.Val1863Met)
|
|
|
NM_014363.6(SACS):c.5589G>A (p.Val1863=)
|
|
|
NM_014363.6(SACS):c.5598C>T (p.His1866=)
|
rs2137617508
|
|
NM_014363.6(SACS):c.5598_5599del (p.Ile1867fs)
|
rs1555252086
|
|
NM_014363.6(SACS):c.5599A>G (p.Ile1867Val)
|
|
|
NM_014363.6(SACS):c.559G>T (p.Val187Phe)
|
rs1344578174
|
|
NM_014363.6(SACS):c.5607G>A (p.Glu1869=)
|
|
|
NM_014363.6(SACS):c.5608G>A (p.Val1870Met)
|
|
|
NM_014363.6(SACS):c.5622A>C (p.Leu1874Phe)
|
|
|
NM_014363.6(SACS):c.5636A>G (p.Lys1879Arg)
|
|
|
NM_014363.6(SACS):c.5643C>G (p.Gly1881=)
|
|
|
NM_014363.6(SACS):c.5646G>A (p.Leu1882=)
|
rs927826338
|
|
NM_014363.6(SACS):c.5649A>G (p.Pro1883=)
|
|
|
NM_014363.6(SACS):c.5652T>G (p.Val1884=)
|
rs2137617009
|
|
NM_014363.6(SACS):c.5670T>C (p.Phe1890=)
|
rs2137616884
|
|
NM_014363.6(SACS):c.5674G>A (p.Val1892Ile)
|
rs2137616839
|
|
NM_014363.6(SACS):c.5679A>C (p.Thr1893=)
|
|
|
NM_014363.6(SACS):c.5679A>G (p.Thr1893=)
|
rs1414521853
|
|
NM_014363.6(SACS):c.5682A>G (p.Ser1894=)
|
|
|
NM_014363.6(SACS):c.5684A>G (p.Asn1895Ser)
|
|
|
NM_014363.6(SACS):c.5700G>A (p.Trp1900Ter)
|
|
|
NM_014363.6(SACS):c.5703A>G (p.Lys1901=)
|
|
|
NM_014363.6(SACS):c.5707_5708del (p.Asp1903fs)
|
rs1593129673
|
|
NM_014363.6(SACS):c.5711C>A (p.Thr1904Lys)
|
|
|
NM_014363.6(SACS):c.5711C>G (p.Thr1904Arg)
|
rs758570844
|
|
NM_014363.6(SACS):c.5711C>T (p.Thr1904Ile)
|
rs758570844
|
|
NM_014363.6(SACS):c.5712A>C (p.Thr1904=)
|
|
|
NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter)
|
rs1485209013
|
|
NM_014363.6(SACS):c.5727T>C (p.Asn1909=)
|
|
|
NM_014363.6(SACS):c.5730C>T (p.Thr1910=)
|
rs2137616328
|
|
NM_014363.6(SACS):c.5733G>T (p.Thr1911=)
|
|
|
NM_014363.6(SACS):c.5736C>T (p.Phe1912=)
|
rs760723369
|
|
NM_014363.6(SACS):c.573A>C (p.Gly191=)
|
|
|
NM_014363.6(SACS):c.5743_5744del (p.His1915fs)
|
rs2137616213
|
|
NM_014363.6(SACS):c.5744_5745del (p.His1915fs)
|
rs1057517138
|
|
NM_014363.6(SACS):c.5745T>C (p.His1915=)
|
rs750789221
|
|
NM_014363.6(SACS):c.5747T>A (p.Val1916Asp)
|
|
|
NM_014363.6(SACS):c.5754G>A (p.Val1918=)
|
rs1355702259
|
|
NM_014363.6(SACS):c.5764_5767del (p.Leu1922fs)
|
rs759166250
|
|
NM_014363.6(SACS):c.5766A>G (p.Leu1922=)
|
rs1443404509
|
|
NM_014363.6(SACS):c.5768A>C (p.Gln1923Pro)
|
rs1868830508
|
|
NM_014363.6(SACS):c.576T>C (p.Ile192=)
|
rs1314146678
|
|
NM_014363.6(SACS):c.5775G>A (p.Leu1925=)
|
|
|
NM_014363.6(SACS):c.5785C>A (p.Arg1929=)
|
rs141019064
|
|
NM_014363.6(SACS):c.5785C>T (p.Arg1929Trp)
|
rs141019064
|
|
NM_014363.6(SACS):c.5788G>A (p.Asp1930Asn)
|
|
|
NM_014363.6(SACS):c.5794G>A (p.Ala1932Thr)
|
|
|
NM_014363.6(SACS):c.5796_5809del (p.Thr1933fs)
|
rs2137615608
|
|
NM_014363.6(SACS):c.579G>T (p.Gly193=)
|
|
|
NM_014363.6(SACS):c.5802T>C (p.Ser1934=)
|
|
|
NM_014363.6(SACS):c.5824_5827del (p.Tyr1942fs)
|
rs2137615500
|
|
NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg)
|
rs137853017
|
|
NM_014363.6(SACS):c.5850T>C (p.Asp1950=)
|
|
|
NM_014363.6(SACS):c.5857C>T (p.His1953Tyr)
|
|
|
NM_014363.6(SACS):c.5858A>T (p.His1953Leu)
|
rs1428265468
|
|
NM_014363.6(SACS):c.5863G>T (p.Asp1955Tyr)
|
|
|
NM_014363.6(SACS):c.5864A>G (p.Asp1955Gly)
|
|
|
NM_014363.6(SACS):c.5886A>G (p.Gly1962=)
|
rs1593129426
|
|
NM_014363.6(SACS):c.5886A>T (p.Gly1962=)
|
|
|
NM_014363.6(SACS):c.5892T>C (p.Tyr1964=)
|
rs2137614926
|
|
NM_014363.6(SACS):c.5896G>A (p.Asp1966Asn)
|
|
|
NM_014363.6(SACS):c.5900T>C (p.Ile1967Thr)
|
|
|
NM_014363.6(SACS):c.5901dup (p.Ala1968fs)
|
|
|
NM_014363.6(SACS):c.5919A>G (p.Lys1973=)
|
|
|
NM_014363.6(SACS):c.5920G>A (p.Glu1974Lys)
|
|
|
NM_014363.6(SACS):c.5927C>G (p.Thr1976Ser)
|
|
|
NM_014363.6(SACS):c.5935T>G (p.Phe1979Val)
|
|
|
NM_014363.6(SACS):c.5937C>T (p.Phe1979=)
|
|
|
NM_014363.6(SACS):c.5944G>A (p.Gly1982Arg)
|
|
|
NM_014363.6(SACS):c.5958T>G (p.Val1986=)
|
|
|
NM_014363.6(SACS):c.5961C>T (p.Ser1987=)
|
|
|
NM_014363.6(SACS):c.5974A>C (p.Arg1992=)
|
|
|
NM_014363.6(SACS):c.597T>C (p.His199=)
|
|
|
NM_014363.6(SACS):c.5989T>A (p.Ser1997Thr)
|
|
|
NM_014363.6(SACS):c.5991T>C (p.Ser1997=)
|
|
|
NM_014363.6(SACS):c.5998A>G (p.Lys2000Glu)
|
|
|
NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs)
|
rs773754134
|
|
NM_014363.6(SACS):c.6002_6003dup (p.Arg2002fs)
|
|
|
NM_014363.6(SACS):c.6007G>A (p.Asp2003Asn)
|
|
|
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val)
|
rs537408260
|
|
NM_014363.6(SACS):c.600A>G (p.Ile200Met)
|
rs2137742429
|
|
NM_014363.6(SACS):c.6011T>C (p.Val2004Ala)
|
|
|
NM_014363.6(SACS):c.6019G>C (p.Ala2007Pro)
|
|
|
NM_014363.6(SACS):c.604+12_604+13insATTAGATCCTCCCGAATCAACCCTGACCCCTCTCCTTCATAAATTATTCAGCTTCCTACACTATTAAAGTTTACCACAACCACCACCCCATCATACTCTTTCACCCACAGCACCAATCCTACCTCCATCGCTAACCCCACTAAAACACTCACCAAGACCTCAACCCCTGACC
|
|
|
NM_014363.6(SACS):c.604+19C>T
|
|
|
NM_014363.6(SACS):c.604+1G>A
|
rs1555254734
|
|
NM_014363.6(SACS):c.604+20G>A
|
|
|
NM_014363.6(SACS):c.604+9T>G
|
|
|
NM_014363.6(SACS):c.6045_6049del (p.Tyr2015_Lys2017delinsTer)
|
|
|
NM_014363.6(SACS):c.6046C>G (p.Leu2016Val)
|
|
|
NM_014363.6(SACS):c.605-15A>C
|
|
|
NM_014363.6(SACS):c.605-16A>G
|
|
|
NM_014363.6(SACS):c.605-18T>C
|
|
|
NM_014363.6(SACS):c.605-7T>C
|
rs1486783723
|
|
NM_014363.6(SACS):c.605-7T>G
|
|
|
NM_014363.6(SACS):c.6057T>C (p.Thr2019=)
|
rs1170458264
|
|
NM_014363.6(SACS):c.605A>G (p.Asp202Gly)
|
rs777554091
|
|
NM_014363.6(SACS):c.6060G>T (p.Gly2020=)
|
|
|
NM_014363.6(SACS):c.6063C>T (p.Ser2021=)
|
|
|
NM_014363.6(SACS):c.6092C>T (p.Ser2031Phe)
|
|
|
NM_014363.6(SACS):c.6105A>G (p.Leu2035=)
|
|
|
NM_014363.6(SACS):c.6108A>T (p.Gly2036=)
|
|
|
NM_014363.6(SACS):c.611del (p.Pro204fs)
|
|
|
NM_014363.6(SACS):c.6136C>T (p.Leu2046=)
|
rs2137612302
|
|
NM_014363.6(SACS):c.6138A>G (p.Leu2046=)
|
|
|
NM_014363.6(SACS):c.6140T>C (p.Leu2047Pro)
|
|
|
NM_014363.6(SACS):c.6143A>G (p.Glu2048Gly)
|
|
|
NM_014363.6(SACS):c.6147C>T (p.Asn2049=)
|
|
|
NM_014363.6(SACS):c.614G>T (p.Cys205Phe)
|
rs2137729432
|
|
NM_014363.6(SACS):c.6150A>G (p.Thr2050=)
|
rs1370520115
|
|
NM_014363.6(SACS):c.6156A>T (p.Ser2052=)
|
rs1868777158
|
|
NM_014363.6(SACS):c.6162A>G (p.Lys2054=)
|
|
|
NM_014363.6(SACS):c.6163C>A (p.Gln2055Lys)
|
|
|
NM_014363.6(SACS):c.6164A>G (p.Gln2055Arg)
|
|
|
NM_014363.6(SACS):c.6165G>A (p.Gln2055=)
|
rs748525192
|
|
NM_014363.6(SACS):c.6172dup (p.Ser2058fs)
|
|
|
NM_014363.6(SACS):c.6174T>C (p.Ser2058=)
|
|
|
NM_014363.6(SACS):c.6176A>T (p.Glu2059Val)
|
|
|
NM_014363.6(SACS):c.6179T>C (p.Val2060Ala)
|
|
|
NM_014363.6(SACS):c.6180G>C (p.Val2060=)
|
|
|
NM_014363.6(SACS):c.6189A>G (p.Pro2063=)
|
|
|
NM_014363.6(SACS):c.6204T>A (p.Ile2068=)
|
|
|
NM_014363.6(SACS):c.6218del (p.Arg2073fs)
|
|
|
NM_014363.6(SACS):c.621T>C (p.Phe207=)
|
|
|
NM_014363.6(SACS):c.621dup (p.Ser208Ter)
|
rs2137729385
|
|
NM_014363.6(SACS):c.6221del (p.Asp2074fs)
|
rs1057517366
|
|
NM_014363.6(SACS):c.6226T>G (p.Leu2076Val)
|
|
|
NM_014363.6(SACS):c.6237T>C (p.Phe2079=)
|
rs1185366909
|
|
NM_014363.6(SACS):c.6241C>T (p.Leu2081=)
|
|
|
NM_014363.6(SACS):c.6256G>A (p.Asp2086Asn)
|
|
|
NM_014363.6(SACS):c.6257A>G (p.Asp2086Gly)
|
|
|
NM_014363.6(SACS):c.6257A>T (p.Asp2086Val)
|
|
|
NM_014363.6(SACS):c.6273T>A (p.Val2091=)
|
|
|
NM_014363.6(SACS):c.6278G>A (p.Arg2093His)
|
|
|
NM_014363.6(SACS):c.627T>C (p.Gly209=)
|
|
|
NM_014363.6(SACS):c.6281T>A (p.Val2094Asp)
|
|
|
NM_014363.6(SACS):c.6288A>G (p.Pro2096=)
|
|
|
NM_014363.6(SACS):c.6300T>A (p.Cys2100Ter)
|
rs2137610914
|
|
NM_014363.6(SACS):c.6303del (p.Leu2102fs)
|
rs2137610861
|
|
NM_014363.6(SACS):c.6330A>G (p.Pro2110=)
|
|
|
NM_014363.6(SACS):c.6337T>C (p.Leu2113=)
|
|
|
NM_014363.6(SACS):c.6338_6341del (p.Leu2113fs)
|
rs1555251822
|
|
NM_014363.6(SACS):c.6342C>T (p.Ile2114=)
|
|
|
NM_014363.6(SACS):c.6343C>T (p.His2115Tyr)
|
rs757161092
|
|
NM_014363.6(SACS):c.6348C>G (p.Pro2116=)
|
|
|
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter)
|
rs766711286
|
|
NM_014363.6(SACS):c.6362C>T (p.Ala2121Val)
|
|
|
NM_014363.6(SACS):c.6363A>G (p.Ala2121=)
|
|
|
NM_014363.6(SACS):c.636C>T (p.Ile212=)
|
rs749553267
|
|
NM_014363.6(SACS):c.6377T>C (p.Ile2126Thr)
|
rs373982540
|
|
NM_014363.6(SACS):c.6387G>A (p.Gly2129=)
|
rs141341126
|
|
NM_014363.6(SACS):c.6387G>C (p.Gly2129=)
|
rs141341126
|
|
NM_014363.6(SACS):c.6389G>C (p.Arg2130Thr)
|
|
|
NM_014363.6(SACS):c.6402T>A (p.Gly2134=)
|
rs2137610043
|
|
NM_014363.6(SACS):c.6411G>A (p.Gln2137=)
|
|
|
NM_014363.6(SACS):c.6413A>T (p.Asp2138Val)
|
|
|
NM_014363.6(SACS):c.6422A>G (p.Asn2141Ser)
|
|
|
NM_014363.6(SACS):c.6434T>A (p.Leu2145Ter)
|
rs770490672
|
|
NM_014363.6(SACS):c.6436A>G (p.Ile2146Val)
|
rs1415663565
|
|
NM_014363.6(SACS):c.6445G>A (p.Val2149Ile)
|
|
|
NM_014363.6(SACS):c.6448_6452del (p.Gln2150fs)
|
rs1057516635
|
|
NM_014363.6(SACS):c.6453A>G (p.Leu2151=)
|
rs2137609654
|
|
NM_014363.6(SACS):c.6455G>A (p.Gly2152Asp)
|
|
|
NM_014363.6(SACS):c.645A>G (p.Leu215=)
|
|
|
NM_014363.6(SACS):c.6460G>A (p.Ala2154Thr)
|
|
|
NM_014363.6(SACS):c.6460G>T (p.Ala2154Ser)
|
rs146031135
|
|
NM_014363.6(SACS):c.6475T>C (p.Leu2159=)
|
|
|
NM_014363.6(SACS):c.6492A>G (p.Leu2164=)
|
rs752050563
|
|
NM_014363.6(SACS):c.6495A>G (p.Glu2165=)
|
rs2137609252
|
|
NM_014363.6(SACS):c.6497G>A (p.Arg2166His)
|
|
|
NM_014363.6(SACS):c.6498T>C (p.Arg2166=)
|
|
|
NM_014363.6(SACS):c.6500C>T (p.Ala2167Val)
|
|
|
NM_014363.6(SACS):c.6510A>G (p.Val2170=)
|
|
|
NM_014363.6(SACS):c.6510A>T (p.Val2170=)
|
|
|
NM_014363.6(SACS):c.6513T>G (p.Ala2171=)
|
|
|
NM_014363.6(SACS):c.6535G>A (p.Val2179Ile)
|
|
|
NM_014363.6(SACS):c.6538dup (p.Ala2180fs)
|
|
|
NM_014363.6(SACS):c.653A>T (p.His218Leu)
|
|
|
NM_014363.6(SACS):c.6546C>T (p.Cys2182=)
|
|
|
NM_014363.6(SACS):c.6558T>C (p.Ser2186=)
|
|
|
NM_014363.6(SACS):c.655C>A (p.Gln219Lys)
|
|
|
NM_014363.6(SACS):c.6565T>C (p.Leu2189=)
|
|
|
NM_014363.6(SACS):c.6579T>C (p.Asp2193=)
|
rs746075355
|
|
NM_014363.6(SACS):c.6585A>G (p.Lys2195=)
|
rs912390732
|
|
NM_014363.6(SACS):c.6585A>T (p.Lys2195Asn)
|
|
|
NM_014363.6(SACS):c.6605G>A (p.Arg2202Lys)
|
|
|
NM_014363.6(SACS):c.6609A>G (p.Ala2203=)
|
|
|
NM_014363.6(SACS):c.6623del (p.Ala2208fs)
|
rs1181477970
|
|
NM_014363.6(SACS):c.6629A>G (p.Tyr2210Cys)
|
|
|
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala)
|
rs556248979
|
|
NM_014363.6(SACS):c.6636A>C (p.Thr2212=)
|
rs899076462
|
|
NM_014363.6(SACS):c.6637A>G (p.Ile2213Val)
|
|
|
NM_014363.6(SACS):c.6641G>A (p.Arg2214His)
|
|
|
NM_014363.6(SACS):c.6641G>T (p.Arg2214Leu)
|
|
|
NM_014363.6(SACS):c.6650C>A (p.Pro2217Gln)
|
rs1868700605
|
|
NM_014363.6(SACS):c.6663A>G (p.Lys2221=)
|
|
|
NM_014363.6(SACS):c.6666A>C (p.Pro2222=)
|
|
|
NM_014363.6(SACS):c.666T>C (p.Phe222=)
|
|
|
NM_014363.6(SACS):c.6679T>A (p.Leu2227Met)
|
rs1868697576
|
|
NM_014363.6(SACS):c.6682G>T (p.Asp2228Tyr)
|
|
|
NM_014363.6(SACS):c.6683A>G (p.Asp2228Gly)
|
|
|
NM_014363.6(SACS):c.6696C>T (p.Asn2232=)
|
rs1868695544
|
|
NM_014363.6(SACS):c.6702T>A (p.Phe2234Leu)
|
rs774487714
|
|
NM_014363.6(SACS):c.6702T>C (p.Phe2234=)
|
rs774487714
|
|
NM_014363.6(SACS):c.6705G>A (p.Lys2235=)
|
|
|
NM_014363.6(SACS):c.6714C>T (p.Thr2238=)
|
rs2137607327
|
|
NM_014363.6(SACS):c.6723A>G (p.Ala2241=)
|
|
|
NM_014363.6(SACS):c.6732C>T (p.Asp2244=)
|
rs1267521367
|
|
NM_014363.6(SACS):c.6739A>G (p.Thr2247Ala)
|
rs1272133291
|
|
NM_014363.6(SACS):c.6741A>C (p.Thr2247=)
|
rs2137607122
|
|
NM_014363.6(SACS):c.6747A>G (p.Glu2249=)
|
|
|
NM_014363.6(SACS):c.674A>G (p.His225Arg)
|
|
|
NM_014363.6(SACS):c.6751C>A (p.Gln2251Lys)
|
rs747293426
|
|
NM_014363.6(SACS):c.6757dup (p.Ile2253fs)
|
rs1057516932
|
|
NM_014363.6(SACS):c.6758T>C (p.Ile2253Thr)
|
|
|
NM_014363.6(SACS):c.6759A>C (p.Ile2253=)
|
rs1312837697
|
|
NM_014363.6(SACS):c.675T>G (p.His225Gln)
|
rs2137729069
|
|
NM_014363.6(SACS):c.6769T>C (p.Leu2257=)
|
rs2137606843
|
|
NM_014363.6(SACS):c.6770del (p.Leu2257fs)
|
|
|
NM_014363.6(SACS):c.6789A>G (p.Glu2263=)
|
|
|
NM_014363.6(SACS):c.6792T>C (p.Asn2264=)
|
|
|
NM_014363.6(SACS):c.6796C>A (p.His2266Asn)
|
|
|
NM_014363.6(SACS):c.6799del (p.Ser2267fs)
|
|
|
NM_014363.6(SACS):c.6801T>C (p.Ser2267=)
|
|
|
NM_014363.6(SACS):c.6813T>G (p.Cys2271Trp)
|
|
|
NM_014363.6(SACS):c.6816T>G (p.Gly2272=)
|
|
|
NM_014363.6(SACS):c.6822_6833del (p.Ser2275_Val2278del)
|
|
|
NM_014363.6(SACS):c.6825A>C (p.Ser2275=)
|
rs368891664
|
|
NM_014363.6(SACS):c.6837dup (p.Glu2280fs)
|
rs748765057
|
|
NM_014363.6(SACS):c.6840G>T (p.Glu2280Asp)
|
|
|
NM_014363.6(SACS):c.6845T>A (p.Leu2282Ter)
|
rs2137606000
|
|
NM_014363.6(SACS):c.6849A>T (p.Gly2283=)
|
rs755452979
|
|
NM_014363.6(SACS):c.6855C>G (p.Leu2285=)
|
rs2137605914
|
|
NM_014363.6(SACS):c.6858G>A (p.Lys2286=)
|
rs1868677264
|
|
NM_014363.6(SACS):c.6860A>G (p.Lys2287Arg)
|
|
|
NM_014363.6(SACS):c.6866C>T (p.Thr2289Ile)
|
|
|
NM_014363.6(SACS):c.6866_6867del (p.Thr2289fs)
|
|
|
NM_014363.6(SACS):c.6871G>C (p.Asp2291His)
|
rs1170939021
|
|
NM_014363.6(SACS):c.687A>G (p.Gln229=)
|
|
|
NM_014363.6(SACS):c.6891G>A (p.Leu2297=)
|
rs775553857
|
|
NM_014363.6(SACS):c.6892A>C (p.Lys2298Gln)
|
|
|
NM_014363.6(SACS):c.6894_6897del (p.Lys2298_Glu2299insTer)
|
|
|
NM_014363.6(SACS):c.6897A>C (p.Glu2299Asp)
|
|
|
NM_014363.6(SACS):c.6897A>G (p.Glu2299=)
|
rs2137605427
|
|
NM_014363.6(SACS):c.6900A>G (p.Val2300=)
|
|
|
NM_014363.6(SACS):c.6907T>A (p.Ser2303Thr)
|
|
|
NM_014363.6(SACS):c.690T>C (p.Cys230=)
|
|
|
NM_014363.6(SACS):c.6910G>A (p.Val2304Ile)
|
|
|
NM_014363.6(SACS):c.6916G>C (p.Asp2306His)
|
|
|
NM_014363.6(SACS):c.6927A>G (p.Thr2309=)
|
|
|
NM_014363.6(SACS):c.6928C>T (p.Leu2310=)
|
rs1868666524
|
|
NM_014363.6(SACS):c.6930G>A (p.Leu2310=)
|
rs780625472
|
|
NM_014363.6(SACS):c.6930G>C (p.Leu2310=)
|
|
|
NM_014363.6(SACS):c.6933C>T (p.Tyr2311=)
|
|
|
NM_014363.6(SACS):c.6942T>C (p.Asn2314=)
|
|
|
NM_014363.6(SACS):c.6951T>C (p.Asn2317=)
|
|
|
NM_014363.6(SACS):c.6953C>T (p.Ala2318Val)
|
|
|
NM_014363.6(SACS):c.6954T>C (p.Ala2318=)
|
rs1481828108
|
|
NM_014363.6(SACS):c.6954T>G (p.Ala2318=)
|
|
|
NM_014363.6(SACS):c.696T>C (p.Asn232=)
|
rs2031640
|
|
NM_014363.6(SACS):c.6970C>A (p.His2324Asn)
|
|
|
NM_014363.6(SACS):c.6978C>G (p.Ala2326=)
|
rs2137604768
|
|
NM_014363.6(SACS):c.6994A>G (p.Ile2332Val)
|
|
|
NM_014363.6(SACS):c.6996C>T (p.Ile2332=)
|
rs2137604621
|
|
NM_014363.6(SACS):c.6999T>C (p.Thr2333=)
|
rs1414703183
|
|
NM_014363.6(SACS):c.7002G>A (p.Lys2334=)
|
|
|
NM_014363.6(SACS):c.7003A>G (p.Met2335Val)
|
|
|
NM_014363.6(SACS):c.7004T>C (p.Met2335Thr)
|
|
|
NM_014363.6(SACS):c.7009A>G (p.Ile2337Val)
|
|
|
NM_014363.6(SACS):c.7016A>G (p.Asp2339Gly)
|
|
|
NM_014363.6(SACS):c.7020G>A (p.Lys2340=)
|
|
|
NM_014363.6(SACS):c.7020_7024del (p.Leu2341fs)
|
|
|
NM_014363.6(SACS):c.7023A>G (p.Leu2341=)
|
rs2137604397
|
|
NM_014363.6(SACS):c.7026A>G (p.Lys2342=)
|
|
|
NM_014363.6(SACS):c.7029C>A (p.Pro2343=)
|
|
|
NM_014363.6(SACS):c.7032T>C (p.Phe2344=)
|
rs746413291
|
|
NM_014363.6(SACS):c.7038C>T (p.Phe2346=)
|
|
|
NM_014363.6(SACS):c.703G>T (p.Asp235Tyr)
|
|
|
NM_014363.6(SACS):c.7052A>G (p.Asn2351Ser)
|
|
|
NM_014363.6(SACS):c.7053T>C (p.Asn2351=)
|
|
|
NM_014363.6(SACS):c.7056A>C (p.Ala2352=)
|
rs1199675216
|
|
NM_014363.6(SACS):c.7056A>T (p.Ala2352=)
|
rs1199675216
|
|
NM_014363.6(SACS):c.7062T>G (p.Val2354=)
|
rs1868650796
|
|
NM_014363.6(SACS):c.7068A>G (p.Ser2356=)
|
rs1868650056
|
|
NM_014363.6(SACS):c.7070A>G (p.Glu2357Gly)
|
|
|
NM_014363.6(SACS):c.7079C>A (p.Ser2360Tyr)
|
|
|
NM_014363.6(SACS):c.7080_7084del (p.His2362fs)
|
rs1294102415
|
|
NM_014363.6(SACS):c.7107A>C (p.Pro2369=)
|
|
|
NM_014363.6(SACS):c.7110C>T (p.Tyr2370=)
|
rs1555251553
|
|
NM_014363.6(SACS):c.7113T>G (p.Leu2371=)
|
|
|
NM_014363.6(SACS):c.7117C>T (p.Gln2373Ter)
|
|
|
NM_014363.6(SACS):c.7125T>C (p.Pro2375=)
|
rs1330112578
|
|
NM_014363.6(SACS):c.7127dup (p.Asn2376fs)
|
rs2137603643
|
|
NM_014363.6(SACS):c.7128T>C (p.Asn2376=)
|
|
|
NM_014363.6(SACS):c.7131G>A (p.Lys2377=)
|
rs1868643917
|
|
NM_014363.6(SACS):c.7134T>C (p.Tyr2378=)
|
rs762475019
|
|
NM_014363.6(SACS):c.7139del (p.Asn2380fs)
|
rs1057516689
|
|
NM_014363.6(SACS):c.7147del (p.Arg2383fs)
|
rs1868641702
|
|
NM_014363.6(SACS):c.7148G>A (p.Arg2383His)
|
|
|
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs)
|
rs1555251539
|
|
NM_014363.6(SACS):c.7163C>T (p.Thr2388Ile)
|
|
|
NM_014363.6(SACS):c.7167G>T (p.Val2389=)
|
|
|
NM_014363.6(SACS):c.7175G>A (p.Arg2392Lys)
|
|
|
NM_014363.6(SACS):c.7178A>G (p.Gln2393Arg)
|
|
|
NM_014363.6(SACS):c.7185C>G (p.Cys2395Trp)
|
|
|
NM_014363.6(SACS):c.7185C>T (p.Cys2395=)
|
|
|
NM_014363.6(SACS):c.7186A>G (p.Thr2396Ala)
|
|
|
NM_014363.6(SACS):c.718A>C (p.Ile240Leu)
|
|
|
NM_014363.6(SACS):c.7204C>G (p.Leu2402Val)
|
|
|
NM_014363.6(SACS):c.7209T>G (p.Val2403=)
|
|
|
NM_014363.6(SACS):c.720T>C (p.Ile240=)
|
|
|
NM_014363.6(SACS):c.7216T>C (p.Ser2406Pro)
|
rs2137602722
|
|
NM_014363.6(SACS):c.7217C>A (p.Ser2406Tyr)
|
|
|
NM_014363.6(SACS):c.7219A>G (p.Ile2407Val)
|
|
|
NM_014363.6(SACS):c.7219_7220del (p.Ser2406_Ile2407insTer)
|
|
|
NM_014363.6(SACS):c.7221T>G (p.Ile2407Met)
|
|
|
NM_014363.6(SACS):c.7223A>G (p.Asp2408Gly)
|
|
|
NM_014363.6(SACS):c.7233A>G (p.Arg2411=)
|
|
|
NM_014363.6(SACS):c.7242G>A (p.Lys2414=)
|
rs185902810
|
|
NM_014363.6(SACS):c.7250_7254del (p.Thr2417fs)
|
rs1868628768
|
|
NM_014363.6(SACS):c.7252G>T (p.Glu2418Ter)
|
rs2137602382
|
|
NM_014363.6(SACS):c.7255G>T (p.Glu2419Ter)
|
rs2137602329
|
|
NM_014363.6(SACS):c.726A>G (p.Glu242=)
|
rs2137728688
|
|
NM_014363.6(SACS):c.7272C>A (p.Cys2424Ter)
|
rs1868626730
|
|
NM_014363.6(SACS):c.7272C>T (p.Cys2424=)
|
rs1868626730
|
|
NM_014363.6(SACS):c.7274G>A (p.Arg2425Gln)
|
|
|
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter)
|
rs786204750
|
|
NM_014363.6(SACS):c.7277G>A (p.Arg2426Gln)
|
|
|
NM_014363.6(SACS):c.727C>G (p.Leu243Val)
|
|
|
NM_014363.6(SACS):c.7284C>T (p.Ile2428=)
|
|
|
NM_014363.6(SACS):c.7296A>T (p.Ile2432=)
|
|
|
NM_014363.6(SACS):c.729T>G (p.Leu243=)
|
|
|
NM_014363.6(SACS):c.7302T>C (p.Ser2434=)
|
|
|
NM_014363.6(SACS):c.7304T>C (p.Leu2435Pro)
|
|
|
NM_014363.6(SACS):c.7306A>G (p.Ile2436Val)
|
rs567650774
|
|
NM_014363.6(SACS):c.7316_7320del (p.Lys2439fs)
|
rs2137601578
|
|
NM_014363.6(SACS):c.7319A>G (p.Lys2440Arg)
|
|
|
NM_014363.6(SACS):c.7321C>T (p.Gln2441Ter)
|
|
|
NM_014363.6(SACS):c.7322_7323del (p.Gln2441fs)
|
|
|
NM_014363.6(SACS):c.7325A>G (p.Glu2442Gly)
|
|
|
NM_014363.6(SACS):c.7326A>G (p.Glu2442=)
|
rs2137601476
|
|
NM_014363.6(SACS):c.7338A>G (p.Lys2446=)
|
rs1868618237
|
|
NM_014363.6(SACS):c.7346G>A (p.Gly2449Asp)
|
|
|
NM_014363.6(SACS):c.7350G>A (p.Lys2450=)
|
|
|
NM_014363.6(SACS):c.7351A>G (p.Ile2451Val)
|
|
|
NM_014363.6(SACS):c.7351A>T (p.Ile2451Leu)
|
|
|
NM_014363.6(SACS):c.7353A>G (p.Ile2451Met)
|
|
|
NM_014363.6(SACS):c.7362A>G (p.Pro2454=)
|
rs2137601099
|
|
NM_014363.6(SACS):c.7368T>G (p.Thr2456=)
|
rs2137601024
|
|
NM_014363.6(SACS):c.7376T>G (p.Met2459Arg)
|
|
|
NM_014363.6(SACS):c.7379_7380del (p.Leu2460fs)
|
|
|
NM_014363.6(SACS):c.7380T>G (p.Leu2460=)
|
|
|
NM_014363.6(SACS):c.7383C>A (p.Leu2461=)
|
|
|
NM_014363.6(SACS):c.7389T>C (p.Ala2463=)
|
|
|
NM_014363.6(SACS):c.7398dup (p.Cys2467fs)
|
|
|
NM_014363.6(SACS):c.7401C>T (p.Cys2467=)
|
|
|
NM_014363.6(SACS):c.7404C>T (p.Tyr2468=)
|
rs2137600713
|
|
NM_014363.6(SACS):c.7415del (p.Pro2472fs)
|
rs2137600629
|
|
NM_014363.6(SACS):c.7426G>A (p.Val2476Ile)
|
|
|
NM_014363.6(SACS):c.744A>C (p.Ala248=)
|
rs1448438600
|
|
NM_014363.6(SACS):c.744A>G (p.Ala248=)
|
rs1448438600
|
|
NM_014363.6(SACS):c.7455T>C (p.His2485=)
|
|
|
NM_014363.6(SACS):c.7458T>A (p.Ala2486=)
|
|
|
NM_014363.6(SACS):c.745C>T (p.Pro249Ser)
|
|
|
NM_014363.6(SACS):c.7464A>C (p.Ile2488=)
|
rs1593127405
|
|
NM_014363.6(SACS):c.7464A>G (p.Ile2488Met)
|
rs1593127405
|
|
NM_014363.6(SACS):c.7476A>G (p.Val2492=)
|
rs1593127376
|
|
NM_014363.6(SACS):c.747A>G (p.Pro249=)
|
rs1377168303
|
|
NM_014363.6(SACS):c.7482A>T (p.Val2494=)
|
rs2137600030
|
|
NM_014363.6(SACS):c.7491A>C (p.Gly2497=)
|
|
|
NM_014363.6(SACS):c.7506A>G (p.Arg2502=)
|
|
|
NM_014363.6(SACS):c.7516T>C (p.Leu2506=)
|
rs2137599675
|
|
NM_014363.6(SACS):c.7516_7522dup (p.Arg2508fs)
|
|
|
NM_014363.6(SACS):c.751G>A (p.Val251Ile)
|
rs776176699
|
|
NM_014363.6(SACS):c.7520A>G (p.Glu2507Gly)
|
|
|
NM_014363.6(SACS):c.7521_7524del (p.Glu2507fs)
|
rs1057516438
|
|
NM_014363.6(SACS):c.7539C>G (p.Val2513=)
|
rs572529567
|
|
NM_014363.6(SACS):c.7539_7540del (p.Cys2514fs)
|
rs1467848128
|
|
NM_014363.6(SACS):c.7548A>G (p.Thr2516=)
|
rs2137599204
|
|
NM_014363.6(SACS):c.7582T>C (p.Leu2528=)
|
|
|
NM_014363.6(SACS):c.7585A>G (p.Thr2529Ala)
|
|
|
NM_014363.6(SACS):c.7586C>A (p.Thr2529Asn)
|
rs1320224325
|
|
NM_014363.6(SACS):c.7587C>G (p.Thr2529=)
|
|
|
NM_014363.6(SACS):c.7587C>T (p.Thr2529=)
|
|
|
NM_014363.6(SACS):c.7601G>A (p.Ser2534Asn)
|
rs750491874
|
|
NM_014363.6(SACS):c.7602C>T (p.Ser2534=)
|
|
|
NM_014363.6(SACS):c.7611T>C (p.Asn2537=)
|
|
|
NM_014363.6(SACS):c.7614A>G (p.Ala2538=)
|
rs142697365
|
|
NM_014363.6(SACS):c.7617T>C (p.Tyr2539=)
|
rs2137598731
|
|
NM_014363.6(SACS):c.7620T>A (p.Pro2540=)
|
|
|
NM_014363.6(SACS):c.7636T>C (p.Leu2546=)
|
|
|
NM_014363.6(SACS):c.7638G>A (p.Leu2546=)
|
|
|
NM_014363.6(SACS):c.7648del (p.Leu2550fs)
|
|
|
NM_014363.6(SACS):c.7655dup (p.Asn2552fs)
|
rs1868578034
|
|
NM_014363.6(SACS):c.7662T>C (p.Asp2554=)
|
|
|
NM_014363.6(SACS):c.766A>G (p.Ser256Gly)
|
|
|
NM_014363.6(SACS):c.7679A>G (p.Glu2560Gly)
|
|
|
NM_014363.6(SACS):c.7686T>C (p.Cys2562=)
|
|
|
NM_014363.6(SACS):c.7686T>G (p.Cys2562Trp)
|
|
|
NM_014363.6(SACS):c.7687T>G (p.Phe2563Val)
|
|
|
NM_014363.6(SACS):c.7698T>C (p.Asp2566=)
|
rs2137598118
|
|
NM_014363.6(SACS):c.7704A>G (p.Arg2568=)
|
rs2137598061
|
|
NM_014363.6(SACS):c.7710T>C (p.His2570=)
|
|
|
NM_014363.6(SACS):c.7713A>T (p.Pro2571=)
|
rs557113294
|
|
NM_014363.6(SACS):c.771C>T (p.Thr257=)
|
rs2137728294
|
|
NM_014363.6(SACS):c.7725A>G (p.Ile2575Met)
|
|
|
NM_014363.6(SACS):c.7761A>G (p.Ala2587=)
|
rs2137597595
|
|
NM_014363.6(SACS):c.7764_7767dup (p.Val2590fs)
|
rs1868567420
|
|
NM_014363.6(SACS):c.777A>G (p.Glu259=)
|
|
|
NM_014363.6(SACS):c.7785A>G (p.Pro2595=)
|
rs2137597409
|
|
NM_014363.6(SACS):c.7788del (p.Phe2596fs)
|
rs1057516959
|
|
NM_014363.6(SACS):c.7794A>G (p.Glu2598=)
|
|
|
NM_014363.6(SACS):c.7794A>T (p.Glu2598Asp)
|
rs1490465452
|
|
NM_014363.6(SACS):c.780A>G (p.Thr260=)
|
|
|
NM_014363.6(SACS):c.7812T>C (p.Ile2604=)
|
rs1593127031
|
|
NM_014363.6(SACS):c.7830C>G (p.Gly2610=)
|
|
|
NM_014363.6(SACS):c.7839G>A (p.Glu2613=)
|
rs2137596950
|
|
NM_014363.6(SACS):c.7844del (p.Asn2615fs)
|
rs758572409
|
|
NM_014363.6(SACS):c.784A>G (p.Ile262Val)
|
|
|
NM_014363.6(SACS):c.7893T>C (p.His2631=)
|
|
|
NM_014363.6(SACS):c.7902C>T (p.Asp2634=)
|
rs2137596562
|
|
NM_014363.6(SACS):c.7903del (p.Cys2635fs)
|
rs1028098148
|
|
NM_014363.6(SACS):c.7911T>G (p.Ser2637=)
|
rs369521544
|
|
NM_014363.6(SACS):c.7912T>C (p.Phe2638Leu)
|
|
|
NM_014363.6(SACS):c.7918T>C (p.Ser2640Pro)
|
rs2137596408
|
|
NM_014363.6(SACS):c.7920T>C (p.Ser2640=)
|
rs2137596372
|
|
NM_014363.6(SACS):c.7925A>G (p.Asn2642Ser)
|
|
|
NM_014363.6(SACS):c.7928_7937del (p.Asp2643fs)
|
|
|
NM_014363.6(SACS):c.7932C>T (p.Ile2644=)
|
rs2137596232
|
|
NM_014363.6(SACS):c.7933C>T (p.Leu2645=)
|
|
|
NM_014363.6(SACS):c.7950T>C (p.Pro2650=)
|
rs2137596152
|
|
NM_014363.6(SACS):c.7955C>T (p.Ala2652Val)
|
|
|
NM_014363.6(SACS):c.7962T>G (p.Tyr2654Ter)
|
|
|
NM_014363.6(SACS):c.7964C>T (p.Ala2655Val)
|
|
|
NM_014363.6(SACS):c.7965A>G (p.Ala2655=)
|
|
|
NM_014363.6(SACS):c.7977A>C (p.Thr2659=)
|
rs2137595797
|
|
NM_014363.6(SACS):c.7989C>G (p.Pro2663=)
|
rs766086455
|
|
NM_014363.6(SACS):c.7992A>G (p.Gly2664=)
|
rs755531339
|
|
NM_014363.6(SACS):c.7993C>T (p.Arg2665Cys)
|
|
|
NM_014363.6(SACS):c.8004A>G (p.Arg2668=)
|
rs2137595571
|
|
NM_014363.6(SACS):c.8013T>C (p.Asp2671=)
|
rs2137595428
|
|
NM_014363.6(SACS):c.8022T>C (p.Phe2674=)
|
rs34928783
|
|
NM_014363.6(SACS):c.8022T>G (p.Phe2674Leu)
|
rs34928783
|
|
NM_014363.6(SACS):c.8028A>G (p.Thr2676=)
|
|
|
NM_014363.6(SACS):c.8034C>T (p.Phe2678=)
|
|
|
NM_014363.6(SACS):c.8034del (p.Ser2679fs)
|
rs1220821559
|
|
NM_014363.6(SACS):c.8044C>T (p.Leu2682=)
|
rs1340571633
|
|
NM_014363.6(SACS):c.8047G>T (p.Asp2683Tyr)
|
|
|
NM_014363.6(SACS):c.8056C>T (p.Leu2686=)
|
rs748595405
|
|
NM_014363.6(SACS):c.8062A>G (p.Thr2688Ala)
|
|
|
NM_014363.6(SACS):c.8064C>A (p.Thr2688=)
|
rs1868538797
|
|
NM_014363.6(SACS):c.8067T>C (p.His2689=)
|
|
|
NM_014363.6(SACS):c.8074C>A (p.Leu2692Met)
|
|
|
NM_014363.6(SACS):c.8085C>T (p.Cys2695=)
|
|
|
NM_014363.6(SACS):c.8088A>T (p.Thr2696=)
|
rs1868536944
|
|
NM_014363.6(SACS):c.8107C>T (p.Arg2703Cys)
|
rs780332615
|
|
NM_014363.6(SACS):c.810T>C (p.Phe270=)
|
rs116907814
|
|
NM_014363.6(SACS):c.813C>T (p.Phe271=)
|
rs2137727948
|
|
NM_014363.6(SACS):c.8142G>T (p.Ser2714=)
|
rs530250252
|
|
NM_014363.6(SACS):c.8145T>A (p.Ser2715=)
|
|
|
NM_014363.6(SACS):c.8148del (p.Pro2717fs)
|
|
|
NM_014363.6(SACS):c.8157A>G (p.Ser2719=)
|
|
|
NM_014363.6(SACS):c.815G>A (p.Arg272His)
|
rs745907077
|
|
NM_014363.6(SACS):c.8161A>G (p.Arg2721Gly)
|
rs1868522362
|
|
NM_014363.6(SACS):c.8169C>A (p.Val2723=)
|
|
|
NM_014363.6(SACS):c.8169C>G (p.Val2723=)
|
|
|
NM_014363.6(SACS):c.8169C>T (p.Val2723=)
|
rs771919940
|
|
NM_014363.6(SACS):c.8179T>C (p.Leu2727=)
|
rs1868521401
|
|
NM_014363.6(SACS):c.8187A>G (p.Lys2729=)
|
rs1566063362
|
|
NM_014363.6(SACS):c.8189_8190del (p.Leu2730fs)
|
|
|
NM_014363.6(SACS):c.8190G>A (p.Leu2730=)
|
rs1593126657
|
|
NM_014363.6(SACS):c.8193C>T (p.Arg2731=)
|
|
|
NM_014363.6(SACS):c.8196_8199del (p.Asp2733fs)
|
rs2137594187
|
|
NM_014363.6(SACS):c.8199T>C (p.Asp2733=)
|
|
|
NM_014363.6(SACS):c.8203G>A (p.Ala2735Thr)
|
|
|
NM_014363.6(SACS):c.8204C>T (p.Ala2735Val)
|
|
|
NM_014363.6(SACS):c.8209C>T (p.Leu2737Phe)
|
|
|
NM_014363.6(SACS):c.8211T>C (p.Leu2737=)
|
|
|
NM_014363.6(SACS):c.8214A>G (p.Leu2738=)
|
rs780464110
|
|
NM_014363.6(SACS):c.8222T>C (p.Leu2741Pro)
|
|
|
NM_014363.6(SACS):c.8226T>C (p.Asn2742=)
|
rs2137593985
|
|
NM_014363.6(SACS):c.8232G>A (p.Met2744Ile)
|
|
|
NM_014363.6(SACS):c.8238A>C (p.Lys2746Asn)
|
rs1029961212
|
|
NM_014363.6(SACS):c.8238_8239dup (p.Ile2747fs)
|
rs779248938
|
|
NM_014363.6(SACS):c.8241T>C (p.Ile2747=)
|
rs2137593811
|
|
NM_014363.6(SACS):c.8251del (p.Glu2751fs)
|
|
|
NM_014363.6(SACS):c.8254A>C (p.Ile2752Leu)
|
rs375814343
|
|
NM_014363.6(SACS):c.8254A>G (p.Ile2752Val)
|
|
|
NM_014363.6(SACS):c.8258A>G (p.Asp2753Gly)
|
|
|
NM_014363.6(SACS):c.8258A>T (p.Asp2753Val)
|
|
|
NM_014363.6(SACS):c.825T>A (p.Leu275=)
|
rs2137727818
|
|
NM_014363.6(SACS):c.8261dup (p.Ser2755fs)
|
rs2137593625
|
|
NM_014363.6(SACS):c.8264del (p.Ser2755fs)
|
|
|
NM_014363.6(SACS):c.8267C>T (p.Thr2756Ile)
|
|
|
NM_014363.6(SACS):c.826C>T (p.Arg276Cys)
|
|
|
NM_014363.6(SACS):c.8272G>A (p.Ala2758Thr)
|
|
|
NM_014363.6(SACS):c.8275C>T (p.Leu2759=)
|
|
|
NM_014363.6(SACS):c.8277A>G (p.Leu2759=)
|
rs964594403
|
|
NM_014363.6(SACS):c.8277A>T (p.Leu2759=)
|
|
|
NM_014363.6(SACS):c.8283G>A (p.Val2761=)
|
|
|
NM_014363.6(SACS):c.8286G>A (p.Leu2762=)
|
rs2137593411
|
|
NM_014363.6(SACS):c.8288A>G (p.Tyr2763Cys)
|
|
|
NM_014363.6(SACS):c.8295A>G (p.Val2765=)
|
rs2137593329
|
|
NM_014363.6(SACS):c.8300G>A (p.Gly2767Asp)
|
|
|
NM_014363.6(SACS):c.8319C>T (p.Asp2773=)
|
rs1199179557
|
|
NM_014363.6(SACS):c.8323T>C (p.Leu2775=)
|
rs1868501939
|
|
NM_014363.6(SACS):c.8344_8345delinsAT (p.Ala2782Ile)
|
rs386768924
|
|
NM_014363.6(SACS):c.8349T>C (p.Ser2783=)
|
|
|
NM_014363.6(SACS):c.8352A>C (p.Val2784=)
|
rs1453849346
|
|
NM_014363.6(SACS):c.8362G>A (p.Val2788Ile)
|
|
|
NM_014363.6(SACS):c.8364T>C (p.Val2788=)
|
|
|
NM_014363.6(SACS):c.8367T>C (p.Thr2789=)
|
|
|
NM_014363.6(SACS):c.8377C>T (p.Gln2793Ter)
|
rs1240368715
|
|
NM_014363.6(SACS):c.8384A>G (p.Lys2795Arg)
|
|
|
NM_014363.6(SACS):c.8385dup (p.Asp2796fs)
|
|
|
NM_014363.6(SACS):c.8388_8402del (p.Asp2796_Gln2801delinsGlu)
|
rs1593126382
|
|
NM_014363.6(SACS):c.8390dup (p.Pro2798fs)
|
|
|
NM_014363.6(SACS):c.8395G>C (p.Val2799Leu)
|
|
|
NM_014363.6(SACS):c.8409C>G (p.Thr2803=)
|
rs746612218
|
|
NM_014363.6(SACS):c.8409C>T (p.Thr2803=)
|
rs746612218
|
|
NM_014363.6(SACS):c.840A>C (p.Ser280=)
|
|
|
NM_014363.6(SACS):c.8417T>C (p.Met2806Thr)
|
|
|
NM_014363.6(SACS):c.8427G>A (p.Glu2809=)
|
rs2137592068
|
|
NM_014363.6(SACS):c.8437G>A (p.Gly2813Arg)
|
|
|
NM_014363.6(SACS):c.843A>G (p.Gln281=)
|
|
|
NM_014363.6(SACS):c.8448T>C (p.Thr2816=)
|
|
|
NM_014363.6(SACS):c.8451G>A (p.Thr2817=)
|
rs749291377
|
|
NM_014363.6(SACS):c.8451G>C (p.Thr2817=)
|
rs749291377
|
|
NM_014363.6(SACS):c.8454G>A (p.Trp2818Ter)
|
rs1868481514
|
|
NM_014363.6(SACS):c.8455C>T (p.Leu2819=)
|
|
|
NM_014363.6(SACS):c.8471C>G (p.Ser2824Ter)
|
rs1868480299
|
|
NM_014363.6(SACS):c.8490G>C (p.Glu2830Asp)
|
|
|
NM_014363.6(SACS):c.8496A>T (p.Val2832=)
|
rs2137591469
|
|
NM_014363.6(SACS):c.8499T>C (p.Ser2833=)
|
|
|
NM_014363.6(SACS):c.8505T>C (p.Ser2835=)
|
rs1868476676
|
|
NM_014363.6(SACS):c.8509A>G (p.Ile2837Val)
|
|
|
NM_014363.6(SACS):c.8511A>G (p.Ile2837Met)
|
|
|
NM_014363.6(SACS):c.8514A>C (p.Ser2838=)
|
rs2137591232
|
|
NM_014363.6(SACS):c.8520C>T (p.His2840=)
|
|
|
NM_014363.6(SACS):c.8529A>G (p.Gln2843=)
|
rs2137591155
|
|
NM_014363.6(SACS):c.8532T>C (p.Asp2844=)
|
|
|
NM_014363.6(SACS):c.8538T>A (p.Thr2846=)
|
rs1593126169
|
|
NM_014363.6(SACS):c.8541T>C (p.Leu2847=)
|
rs546729483
|
|
NM_014363.6(SACS):c.8565C>T (p.Ala2855=)
|
rs774758836
|
|
NM_014363.6(SACS):c.8571T>A (p.Ile2857=)
|
|
|
NM_014363.6(SACS):c.8571T>C (p.Ile2857=)
|
|
|
NM_014363.6(SACS):c.8574T>C (p.Thr2858=)
|
|
|
NM_014363.6(SACS):c.8575C>G (p.His2859Asp)
|
|
|
NM_014363.6(SACS):c.8583T>C (p.Tyr2861=)
|
|
|
NM_014363.6(SACS):c.8584A>T (p.Lys2862Ter)
|
rs2137590717
|
|
NM_014363.6(SACS):c.858C>T (p.Leu286=)
|
rs1870340453
|
|
NM_014363.6(SACS):c.8604C>T (p.Phe2868=)
|
rs1031471964
|
|
NM_014363.6(SACS):c.8610T>C (p.Phe2870=)
|
|
|
NM_014363.6(SACS):c.8619T>C (p.Leu2873=)
|
|
|
NM_014363.6(SACS):c.8621_8624del (p.Ser2874fs)
|
rs753012964
|
|
NM_014363.6(SACS):c.8623T>C (p.Leu2875=)
|
|
|
NM_014363.6(SACS):c.862_863delinsTC (p.Asn288Ser)
|
rs1555254433
|
|
NM_014363.6(SACS):c.8631T>G (p.Thr2877=)
|
rs2137590401
|
|
NM_014363.6(SACS):c.863A>G (p.Asn288Ser)
|
|
|
NM_014363.6(SACS):c.8640A>G (p.Pro2880=)
|
|
|
NM_014363.6(SACS):c.8641T>G (p.Phe2881Val)
|
|
|
NM_014363.6(SACS):c.8655C>T (p.Gly2885=)
|
|
|
NM_014363.6(SACS):c.866A>C (p.Lys289Thr)
|
|
|
NM_014363.6(SACS):c.8692C>T (p.Arg2898Cys)
|
|
|
NM_014363.6(SACS):c.8694T>A (p.Arg2898=)
|
|
|
NM_014363.6(SACS):c.8700T>C (p.Asp2900=)
|
rs1207531130
|
|
NM_014363.6(SACS):c.8702A>G (p.Asn2901Ser)
|
|
|
NM_014363.6(SACS):c.8712T>C (p.Gly2904=)
|
|
|
NM_014363.6(SACS):c.8727G>A (p.Trp2909Ter)
|
rs1555250949
|
|
NM_014363.6(SACS):c.8740A>G (p.Met2914Val)
|
|
|
NM_014363.6(SACS):c.8765dup (p.Tyr2922Ter)
|
rs2137589721
|
|
NM_014363.6(SACS):c.8773T>C (p.Leu2925=)
|
rs2137589672
|
|
NM_014363.6(SACS):c.8778A>G (p.Leu2926=)
|
|
|
NM_014363.6(SACS):c.8793del (p.Lys2931fs)
|
rs767871841
|
|
NM_014363.6(SACS):c.8793dup (p.Arg2932fs)
|
rs767871841
|
|
NM_014363.6(SACS):c.8794C>T (p.Arg2932Trp)
|
rs370913893
|
|
NM_014363.6(SACS):c.8795G>A (p.Arg2932Gln)
|
|
|
NM_014363.6(SACS):c.8796G>C (p.Arg2932=)
|
|
|
NM_014363.6(SACS):c.8797T>C (p.Tyr2933His)
|
|
|
NM_014363.6(SACS):c.8799T>A (p.Tyr2933Ter)
|
|
|
NM_014363.6(SACS):c.879T>A (p.Leu293=)
|
|
|
NM_014363.6(SACS):c.879T>C (p.Leu293=)
|
|
|
NM_014363.6(SACS):c.8803C>T (p.Pro2935Ser)
|
|
|
NM_014363.6(SACS):c.8804C>T (p.Pro2935Leu)
|
|
|
NM_014363.6(SACS):c.8807del (p.Gly2936fs)
|
|
|
NM_014363.6(SACS):c.8809T>A (p.Ser2937Thr)
|
|
|
NM_014363.6(SACS):c.8816C>T (p.Pro2939Leu)
|
|
|
NM_014363.6(SACS):c.8819C>T (p.Thr2940Ile)
|
|
|
NM_014363.6(SACS):c.8822T>C (p.Leu2941Ser)
|
|
|
NM_014363.6(SACS):c.8822T>G (p.Leu2941Ter)
|
rs530269705
|
|
NM_014363.6(SACS):c.8823A>G (p.Leu2941=)
|
|
|
NM_014363.6(SACS):c.8828T>C (p.Val2943Ala)
|
|
|
NM_014363.6(SACS):c.8835G>A (p.Gln2945=)
|
rs1868447934
|
|
NM_014363.6(SACS):c.8838C>T (p.Asn2946=)
|
rs2137588990
|
|
NM_014363.6(SACS):c.8841C>G (p.Thr2947=)
|
|
|
NM_014363.6(SACS):c.8844T>G (p.Pro2948=)
|
|
|
NM_014363.6(SACS):c.8849A>C (p.His2950Pro)
|
|
|
NM_014363.6(SACS):c.8853T>G (p.Val2951=)
|
rs9552929
|
|
NM_014363.6(SACS):c.8864C>A (p.Thr2955Asn)
|
|
|
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg)
|
rs11839380
|
|
NM_014363.6(SACS):c.888T>C (p.Phe296=)
|
|
|
NM_014363.6(SACS):c.8904T>C (p.Leu2968=)
|
rs2137588252
|
|
NM_014363.6(SACS):c.8907T>C (p.Asp2969=)
|
|
|
NM_014363.6(SACS):c.8911C>T (p.Gln2971Ter)
|
|
|
NM_014363.6(SACS):c.891G>A (p.Glu297=)
|
rs2137727218
|
|
NM_014363.6(SACS):c.8925T>C (p.Tyr2975=)
|
rs971494277
|
|
NM_014363.6(SACS):c.8928T>C (p.Cys2976=)
|
rs756222456
|
|
NM_014363.6(SACS):c.8931A>T (p.Leu2977=)
|
rs376228714
|
|
NM_014363.6(SACS):c.8934G>A (p.Val2978=)
|
|
|
NM_014363.6(SACS):c.8955del (p.His2986fs)
|
rs1228783766
|
|
NM_014363.6(SACS):c.897T>C (p.Phe299=)
|
rs2137727190
|
|
NM_014363.6(SACS):c.8992G>C (p.Ala2998Pro)
|
|
|
NM_014363.6(SACS):c.8994T>A (p.Ala2998=)
|
rs2137587608
|
|
NM_014363.6(SACS):c.9009C>T (p.Gly3003=)
|
|
|
NM_014363.6(SACS):c.9015C>T (p.Asp3005=)
|
rs769712713
|
|
NM_014363.6(SACS):c.9021C>T (p.His3007=)
|
rs1868427865
|
|
NM_014363.6(SACS):c.9024T>G (p.Ser3008=)
|
rs2137587321
|
|
NM_014363.6(SACS):c.9039T>C (p.Thr3013=)
|
|
|
NM_014363.6(SACS):c.903A>G (p.Ala301=)
|
|
|
NM_014363.6(SACS):c.9052T>C (p.Ser3018Pro)
|
|
|
NM_014363.6(SACS):c.9057T>C (p.Thr3019=)
|
rs1180500330
|
|
NM_014363.6(SACS):c.9063T>G (p.Asn3021Lys)
|
|
|
NM_014363.6(SACS):c.9069_9070del (p.Arg3024fs)
|
rs1868424934
|
|
NM_014363.6(SACS):c.906T>G (p.Asp302Glu)
|
|
|
NM_014363.6(SACS):c.9073C>T (p.Pro3025Ser)
|
|
|
NM_014363.6(SACS):c.9075A>G (p.Pro3025=)
|
|
|
NM_014363.6(SACS):c.9087T>C (p.Asn3029=)
|
|
|
NM_014363.6(SACS):c.9088_9089dup (p.Leu3030fs)
|
rs1057517060
|
|
NM_014363.6(SACS):c.9093A>G (p.Leu3031=)
|
rs1350252405
|
|
NM_014363.6(SACS):c.9096G>T (p.Gln3032His)
|
|
|
NM_014363.6(SACS):c.9103T>G (p.Leu3035Val)
|
|
|
NM_014363.6(SACS):c.9106C>T (p.Gln3036Ter)
|
|
|
NM_014363.6(SACS):c.9107A>G (p.Gln3036Arg)
|
|
|
NM_014363.6(SACS):c.9111C>T (p.His3037=)
|
rs2137586671
|
|
NM_014363.6(SACS):c.9114T>A (p.Leu3038=)
|
rs1198368369
|
|
NM_014363.6(SACS):c.9119dup (p.Asn3040fs)
|
rs1435126137
|
|
NM_014363.6(SACS):c.9123A>G (p.Ala3041=)
|
rs2137586583
|
|
NM_014363.6(SACS):c.9129T>C (p.Tyr3043=)
|
|
|
NM_014363.6(SACS):c.9132T>C (p.Asn3044=)
|
rs2137586506
|
|
NM_014363.6(SACS):c.9133A>G (p.Ile3045Val)
|
|
|
NM_014363.6(SACS):c.9142C>T (p.Arg3048Cys)
|
|
|
NM_014363.6(SACS):c.9143G>A (p.Arg3048His)
|
rs553929593
|
|
NM_014363.6(SACS):c.9156dup (p.Glu3053fs)
|
|
|
NM_014363.6(SACS):c.9163G>A (p.Val3055Ile)
|
|
|
NM_014363.6(SACS):c.9164T>C (p.Val3055Ala)
|
|
|
NM_014363.6(SACS):c.9167A>G (p.Tyr3056Cys)
|
|
|
NM_014363.6(SACS):c.9170G>A (p.Arg3057Lys)
|
|
|
NM_014363.6(SACS):c.9174G>A (p.Leu3058=)
|
|
|
NM_014363.6(SACS):c.9183C>T (p.Leu3061=)
|
rs2137586200
|
|
NM_014363.6(SACS):c.9195T>C (p.Ile3065=)
|
rs2137586072
|
|
NM_014363.6(SACS):c.9203A>G (p.Asn3068Ser)
|
|
|
NM_014363.6(SACS):c.9205T>C (p.Leu3069=)
|
|
|
NM_014363.6(SACS):c.9212A>G (p.Tyr3071Cys)
|
|
|
NM_014363.6(SACS):c.9219_9220del (p.Cys3073_Asp3074delinsTer)
|
|
|
NM_014363.6(SACS):c.921G>A (p.Leu307=)
|
rs1870332993
|
|
NM_014363.6(SACS):c.922C>T (p.Leu308Phe)
|
|
|
NM_014363.6(SACS):c.9231T>A (p.Ala3077=)
|
|
|
NM_014363.6(SACS):c.9231T>C (p.Ala3077=)
|
rs779640503
|
|
NM_014363.6(SACS):c.9233del (p.Asn3078fs)
|
rs1593125341
|
|
NM_014363.6(SACS):c.9237T>C (p.Leu3079=)
|
|
|
NM_014363.6(SACS):c.9238T>C (p.Tyr3080His)
|
|
|
NM_014363.6(SACS):c.9241C>T (p.His3081Tyr)
|
|
|
NM_014363.6(SACS):c.9245G>A (p.Cys3082Tyr)
|
|
|
NM_014363.6(SACS):c.9249T>C (p.Leu3083=)
|
|
|
NM_014363.6(SACS):c.9249del (p.Leu3083_Ile3084insTer)
|
rs1868403104
|
|
NM_014363.6(SACS):c.9257C>T (p.Ala3086Val)
|
|
|
NM_014363.6(SACS):c.9258A>G (p.Ala3086=)
|
rs2137585518
|
|
NM_014363.6(SACS):c.9259G>A (p.Asp3087Asn)
|
rs2137585503
|
|
NM_014363.6(SACS):c.9266del (p.Pro3089fs)
|
|
|
NM_014363.6(SACS):c.9267T>C (p.Pro3089=)
|
|
|
NM_014363.6(SACS):c.9273T>C (p.Ser3091=)
|
rs2137585391
|
|
NM_014363.6(SACS):c.9276T>C (p.Tyr3092=)
|
rs2137585334
|
|
NM_014363.6(SACS):c.9282C>T (p.Thr3094=)
|
|
|
NM_014363.6(SACS):c.9284del (p.Pro3095fs)
|
|
|
NM_014363.6(SACS):c.9292dup (p.Ile3098fs)
|
|
|
NM_014363.6(SACS):c.9293T>G (p.Ile3098Ser)
|
|
|
NM_014363.6(SACS):c.9310A>G (p.Thr3104Ala)
|
|
|
NM_014363.6(SACS):c.9328A>G (p.Thr3110Ala)
|
rs1883705967
|
|
NM_014363.6(SACS):c.9330T>C (p.Thr3110=)
|
|
|
NM_014363.6(SACS):c.9336C>T (p.Cys3112=)
|
rs2137584765
|
|
NM_014363.6(SACS):c.9346_9354dup (p.Lys3116_Pro3118dup)
|
rs2137584629
|
|
NM_014363.6(SACS):c.9348G>A (p.Lys3116=)
|
|
|
NM_014363.6(SACS):c.9353C>T (p.Pro3118Leu)
|
|
|
NM_014363.6(SACS):c.9358C>T (p.Arg3120Cys)
|
|
|
NM_014363.6(SACS):c.9359G>A (p.Arg3120His)
|
|
|
NM_014363.6(SACS):c.9359G>T (p.Arg3120Leu)
|
rs569955570
|
|
NM_014363.6(SACS):c.9361C>T (p.Leu3121=)
|
rs2137584537
|
|
NM_014363.6(SACS):c.9367C>T (p.Gln3123Ter)
|
rs2137584477
|
|
NM_014363.6(SACS):c.9372T>A (p.Thr3124=)
|
rs2137584446
|
|
NM_014363.6(SACS):c.9381A>G (p.Lys3127=)
|
rs2137584369
|
|
NM_014363.6(SACS):c.9386T>C (p.Phe3129Ser)
|
|
|
NM_014363.6(SACS):c.9389A>G (p.His3130Arg)
|
|
|
NM_014363.6(SACS):c.9390T>C (p.His3130=)
|
|
|
NM_014363.6(SACS):c.939G>A (p.Val313=)
|
rs1196445565
|
|
NM_014363.6(SACS):c.939G>T (p.Val313=)
|
rs1196445565
|
|
NM_014363.6(SACS):c.9403T>C (p.Leu3135=)
|
rs867103476
|
|
NM_014363.6(SACS):c.9405A>G (p.Leu3135=)
|
rs866488144
|
|
NM_014363.6(SACS):c.9408T>C (p.Val3136=)
|
|
|
NM_014363.6(SACS):c.9410A>G (p.Asp3137Gly)
|
|
|
NM_014363.6(SACS):c.9411T>C (p.Asp3137=)
|
|
|
NM_014363.6(SACS):c.9417T>C (p.Cys3139=)
|
rs2137584002
|
|
NM_014363.6(SACS):c.9417_9433del (p.Cys3139_Glu3145delinsTer)
|
rs2137583946
|
|
NM_014363.6(SACS):c.941A>G (p.Gln314Arg)
|
|
|
NM_014363.6(SACS):c.9420T>C (p.Phe3140=)
|
|
|
NM_014363.6(SACS):c.9443T>C (p.Ile3148Thr)
|
|
|
NM_014363.6(SACS):c.9462C>G (p.Pro3154=)
|
|
|
NM_014363.6(SACS):c.9465T>C (p.Leu3155=)
|
rs1593125038
|
|
NM_014363.6(SACS):c.9468C>T (p.Leu3156=)
|
|
|
NM_014363.6(SACS):c.9475C>T (p.Leu3159=)
|
|
|
NM_014363.6(SACS):c.9476T>C (p.Leu3159Pro)
|
|
|
NM_014363.6(SACS):c.9484G>A (p.Val3162Ile)
|
|
|
NM_014363.6(SACS):c.9484_9496del (p.Val3162fs)
|
|
|
NM_014363.6(SACS):c.948T>C (p.Val316=)
|
|
|
NM_014363.6(SACS):c.9504A>T (p.Ala3168=)
|
|
|
NM_014363.6(SACS):c.9508_9518del (p.Arg3170fs)
|
|
|
NM_014363.6(SACS):c.9509G>A (p.Arg3170Gln)
|
|
|
NM_014363.6(SACS):c.9510A>C (p.Arg3170=)
|
rs2137583405
|
|
NM_014363.6(SACS):c.9515A>G (p.Lys3172Arg)
|
|
|
NM_014363.6(SACS):c.9519T>C (p.Phe3173=)
|
rs780746393
|
|
NM_014363.6(SACS):c.9519T>G (p.Phe3173Leu)
|
rs780746393
|
|
NM_014363.6(SACS):c.951C>T (p.Ser317=)
|
rs2137726663
|
|
NM_014363.6(SACS):c.9528A>G (p.Thr3176=)
|
|
|
NM_014363.6(SACS):c.9534T>C (p.His3178=)
|
rs1029799719
|
|
NM_014363.6(SACS):c.9543T>A (p.Ile3181=)
|
|
|
NM_014363.6(SACS):c.9549C>T (p.Ser3183=)
|
|
|
NM_014363.6(SACS):c.9558C>T (p.Asp3186=)
|
|
|
NM_014363.6(SACS):c.9561_9564del (p.Leu3187_Phe3188insTer)
|
rs1060503431
|
|
NM_014363.6(SACS):c.9569A>G (p.Asn3190Ser)
|
|
|
NM_014363.6(SACS):c.956A>T (p.Tyr319Phe)
|
|
|
NM_014363.6(SACS):c.9576A>G (p.Leu3192=)
|
|
|
NM_014363.6(SACS):c.9576_9580del (p.Leu3192fs)
|
rs1883687132
|
|
NM_014363.6(SACS):c.9579T>C (p.Tyr3193=)
|
|
|
NM_014363.6(SACS):c.957T>C (p.Tyr319=)
|
|
|
NM_014363.6(SACS):c.9591T>C (p.Ser3197=)
|
rs764477877
|
|
NM_014363.6(SACS):c.9594T>C (p.Asn3198=)
|
|
|
NM_014363.6(SACS):c.9601T>C (p.Leu3201=)
|
|
|
NM_014363.6(SACS):c.9605A>C (p.Asn3202Thr)
|
|
|
NM_014363.6(SACS):c.9608G>A (p.Cys3203Tyr)
|
|
|
NM_014363.6(SACS):c.960C>T (p.Val320=)
|
|
|
NM_014363.6(SACS):c.9618A>C (p.Ala3206=)
|
|
|
NM_014363.6(SACS):c.9619A>G (p.Lys3207Glu)
|
|
|
NM_014363.6(SACS):c.961C>T (p.Arg321Ter)
|
rs1175545518
|
|
NM_014363.6(SACS):c.9630C>T (p.Asp3210=)
|
|
|
NM_014363.6(SACS):c.9637A>G (p.Ser3213Gly)
|
|
|
NM_014363.6(SACS):c.9642T>C (p.Phe3214=)
|
rs2137582243
|
|
NM_014363.6(SACS):c.9645T>G (p.Ala3215=)
|
|
|
NM_014363.6(SACS):c.9651G>A (p.Leu3217=)
|
rs778613923
|
|
NM_014363.6(SACS):c.9657C>T (p.Ser3219=)
|
|
|
NM_014363.6(SACS):c.9659_9660del (p.Ser3220fs)
|
rs2137582027
|
|
NM_014363.6(SACS):c.9663G>A (p.Val3221=)
|
|
|
NM_014363.6(SACS):c.9668C>T (p.Pro3223Leu)
|
|
|
NM_014363.6(SACS):c.9670C>T (p.Arg3224Ter)
|
rs751568153
|
|
NM_014363.6(SACS):c.9671G>C (p.Arg3224Pro)
|
rs763546908
|
|
NM_014363.6(SACS):c.9675A>G (p.Glu3225=)
|
|
|
NM_014363.6(SACS):c.9678T>C (p.Tyr3226=)
|
rs2137581806
|
|
NM_014363.6(SACS):c.9678T>G (p.Tyr3226Ter)
|
|
|
NM_014363.6(SACS):c.9683C>T (p.Thr3228Ile)
|
|
|
NM_014363.6(SACS):c.9684C>G (p.Thr3228=)
|
|
|
NM_014363.6(SACS):c.9692G>A (p.Cys3231Tyr)
|
|
|
NM_014363.6(SACS):c.9696A>G (p.Thr3232=)
|
rs1301795803
|
|
NM_014363.6(SACS):c.9699G>A (p.Lys3233=)
|
rs1593124697
|
|
NM_014363.6(SACS):c.9702G>A (p.Trp3234Ter)
|
rs2137581531
|
|
NM_014363.6(SACS):c.9708C>A (p.Asp3236Glu)
|
|
|
NM_014363.6(SACS):c.9710A>G (p.Asn3237Ser)
|
|
|
NM_014363.6(SACS):c.972C>A (p.Asp324Glu)
|
rs546652936
|
|
NM_014363.6(SACS):c.972C>T (p.Asp324=)
|
rs546652936
|
|
NM_014363.6(SACS):c.9744G>A (p.Trp3248Ter)
|
rs1883673959
|
|
NM_014363.6(SACS):c.974G>A (p.Gly325Glu)
|
|
|
NM_014363.6(SACS):c.9759A>G (p.Glu3253=)
|
rs1883673090
|
|
NM_014363.6(SACS):c.9762T>A (p.Ser3254=)
|
rs1883672788
|
|
NM_014363.6(SACS):c.9764dup (p.Ser3256fs)
|
|
|
NM_014363.6(SACS):c.9769G>T (p.Val3257Leu)
|
|
|
NM_014363.6(SACS):c.9771G>A (p.Val3257=)
|
rs2137580934
|
|
NM_014363.6(SACS):c.9771G>C (p.Val3257=)
|
|
|
NM_014363.6(SACS):c.9786A>G (p.Glu3262=)
|
|
|
NM_014363.6(SACS):c.978A>G (p.Thr326=)
|
|
|
NM_014363.6(SACS):c.9791C>A (p.Thr3264Lys)
|
|
|
NM_014363.6(SACS):c.9801A>G (p.Thr3267=)
|
rs765872254
|
|
NM_014363.6(SACS):c.9807C>T (p.Asp3269=)
|
|
|
NM_014363.6(SACS):c.9808_9810del (p.Ile3270del)
|
|
|
NM_014363.6(SACS):c.9815T>G (p.Val3272Gly)
|
|
|
NM_014363.6(SACS):c.9821C>G (p.Thr3274Ser)
|
|
|
NM_014363.6(SACS):c.9828A>T (p.Lys3276Asn)
|
|
|
NM_014363.6(SACS):c.9831C>T (p.Asp3277=)
|
|
|
NM_014363.6(SACS):c.9834G>A (p.Trp3278Ter)
|
rs1174846895
|
|
NM_014363.6(SACS):c.9837A>G (p.Ala3279=)
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rs2137580360
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NM_014363.6(SACS):c.9846A>C (p.Pro3282=)
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rs61753111
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NM_014363.6(SACS):c.9850A>G (p.Thr3284Ala)
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NM_014363.6(SACS):c.9858T>G (p.Phe3286Leu)
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NM_014363.6(SACS):c.9861T>C (p.Thr3287=)
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rs2137580158
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NM_014363.6(SACS):c.9866C>G (p.Ser3289Ter)
|
rs2137580127
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NM_014363.6(SACS):c.9873C>T (p.Asn3291=)
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rs2137580081
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NM_014363.6(SACS):c.9888T>G (p.Pro3296=)
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rs755440793
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NM_014363.6(SACS):c.9891A>G (p.Glu3297=)
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rs528073122
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NM_014363.6(SACS):c.9903G>C (p.Leu3301=)
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NM_014363.6(SACS):c.9906T>A (p.Leu3302=)
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NM_014363.6(SACS):c.9909T>C (p.Pro3303=)
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NM_014363.6(SACS):c.9910C>T (p.Leu3304Phe)
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NM_014363.6(SACS):c.9912C>T (p.Leu3304=)
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rs1593124372
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NM_014363.6(SACS):c.9919A>C (p.Met3307Leu)
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|
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NM_014363.6(SACS):c.9925A>G (p.Ile3309Val)
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NM_014363.6(SACS):c.9927T>G (p.Ile3309Met)
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NM_014363.6(SACS):c.9938C>T (p.Pro3313Leu)
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|
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NM_014363.6(SACS):c.9939A>G (p.Pro3313=)
|
rs1593124327
|
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NM_014363.6(SACS):c.993T>C (p.Phe331=)
|
rs1870321510
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NM_014363.6(SACS):c.9948G>A (p.Gln3316=)
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NM_014363.6(SACS):c.9949A>G (p.Ser3317Gly)
|
rs769422067
|
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NM_014363.6(SACS):c.9955A>G (p.Lys3319Glu)
|
rs1566060408
|
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NM_014363.6(SACS):c.9956_9957del (p.Lys3319fs)
|
rs772704931
|
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NM_014363.6(SACS):c.9968C>T (p.Ala3323Val)
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|
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NM_014363.6(SACS):c.9969T>C (p.Ala3323=)
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NM_014363.6(SACS):c.9970C>T (p.Leu3324=)
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NM_014363.6(SACS):c.9972A>G (p.Leu3324=)
|
rs772412510
|
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NM_014363.6(SACS):c.9972A>T (p.Leu3324=)
|
rs772412510
|
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NM_014363.6(SACS):c.9981T>G (p.Ala3327=)
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|
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NM_014363.6(SACS):c.9987T>A (p.Cys3329Ter)
|
rs2137578916
|
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NM_014363.6(SACS):c.999G>C (p.Val333=)
|
rs2137726131
|
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NM_014363.6(SACS):c.9C>T (p.Thr3=)
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