NM_014363.6(SACS):c.10338G>A (p.Gln3446=)
|
rs2737701
|
0.98600
|
NM_014363.6(SACS):c.172-231A>G
|
rs2766104
|
0.87552
|
NM_014363.6(SACS):c.9981T>C (p.Ala3327=)
|
rs2737700
|
0.36123
|
NM_014363.6(SACS):c.-13A>G
|
rs17078720
|
0.27905
|
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.605-99C>T
|
rs2031641
|
0.06176
|
NM_014363.6(SACS):c.259+32C>T
|
rs61421223
|
0.05132
|
NM_014363.6(SACS):c.259+254C>T
|
rs111371229
|
0.05128
|
NM_014363.6(SACS):c.-501-284G>A
|
rs145010681
|
0.03363
|
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.-501-343G>A
|
rs61946972
|
0.02791
|
NM_014363.6(SACS):c.-501-337C>G
|
rs142636415
|
0.02657
|
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.2094-182C>T
|
rs9578585
|
0.02106
|
NM_014363.6(SACS):c.346-47G>A
|
rs9510706
|
0.01795
|
NM_014363.6(SACS):c.260-232C>G
|
rs112304991
|
0.01470
|
NM_014363.6(SACS):c.7149C>T (p.Arg2383=)
|
rs17078608
|
0.01409
|
NM_014363.6(SACS):c.605-121G>C
|
rs74614483
|
0.01248
|
NM_014363.6(SACS):c.20+190T>G
|
rs114384992
|
0.01195
|
NM_014363.6(SACS):c.-501-219G>A
|
rs115681764
|
0.01082
|
NM_014363.6(SACS):c.-219A>G
|
rs74495070
|
0.01003
|
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.-303C>T
|
rs116758349
|
0.00909
|
NM_014363.6(SACS):c.-278G>A
|
rs78682319
|
0.00908
|
NM_014363.6(SACS):c.-39T>G
|
rs17078721
|
0.00873
|
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp)
|
rs35799469
|
0.00804
|
NM_014363.6(SACS):c.605-319A>C
|
rs116419735
|
0.00801
|
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.458-213A>G
|
rs116246188
|
0.00751
|
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val)
|
rs61548169
|
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.605-64T>C
|
rs541474163
|
0.00438
|
NM_014363.6(SACS):c.*821A>G
|
rs145184122
|
0.00401
|
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.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.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.7527T>C (p.Tyr2509=)
|
rs140034972
|
0.00109
|
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.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.12148T>C (p.Phe4050Leu)
|
rs147013767
|
0.00060
|
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.3144A>G (p.Val1048=)
|
rs3751369
|
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.3042A>G (p.Leu1014=)
|
rs141982796
|
0.00030
|
NM_014363.6(SACS):c.2929C>T (p.Leu977=)
|
rs146296924
|
0.00029
|
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu)
|
rs137905181
|
0.00029
|
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.6952G>A (p.Ala2318Thr)
|
rs147949881
|
0.00022
|
NM_014363.6(SACS):c.973G>A (p.Gly325Arg)
|
rs144303334
|
0.00021
|
NM_014363.6(SACS):c.9275A>T (p.Tyr3092Phe)
|
rs139579036
|
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.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.6640C>T (p.Arg2214Cys)
|
rs138379074
|
0.00017
|
NM_014363.6(SACS):c.11703T>C (p.Asn3901=)
|
rs146154135
|
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.11048A>G (p.Asn3683Ser)
|
rs138609508
|
0.00014
|
NM_014363.6(SACS):c.2329T>C (p.Ser777Pro)
|
rs147837803
|
0.00014
|
NM_014363.6(SACS):c.1219C>A (p.Leu407Ile)
|
rs201569239
|
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.2294A>G (p.Tyr765Cys)
|
rs141553858
|
0.00012
|
NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn)
|
rs144715822
|
0.00012
|
NM_014363.6(SACS):c.1033C>T (p.Arg345Trp)
|
rs776156836
|
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.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.7288G>A (p.Glu2430Lys)
|
rs201798841
|
0.00011
|
NM_014363.6(SACS):c.2643G>C (p.Glu881Asp)
|
rs200517685
|
0.00010
|
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.13027G>A (p.Glu4343Lys)
|
rs749383532
|
0.00008
|
NM_014363.6(SACS):c.1912T>G (p.Cys638Gly)
|
rs200333323
|
0.00008
|
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu)
|
rs747676277
|
0.00008
|
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln)
|
rs148925505
|
0.00007
|
NM_014363.6(SACS):c.175T>A (p.Ser59Thr)
|
rs539836931
|
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.9791C>G (p.Thr3264Arg)
|
rs758563983
|
0.00007
|
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.10954C>A (p.Pro3652Thr)
|
rs201505036
|
0.00006
|
NM_014363.6(SACS):c.11717C>T (p.Ala3906Val)
|
rs375961779
|
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.13106A>G (p.Asp4369Gly)
|
rs770895110
|
0.00006
|
NM_014363.6(SACS):c.2024A>G (p.Asn675Ser)
|
rs146395198
|
0.00006
|
NM_014363.6(SACS):c.2423T>C (p.Leu808Pro)
|
rs923118368
|
0.00006
|
NM_014363.6(SACS):c.2776A>G (p.Ile926Val)
|
rs144362131
|
0.00006
|
NM_014363.6(SACS):c.432G>T (p.Trp144Cys)
|
rs368570790
|
0.00006
|
NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu)
|
rs755723511
|
0.00006
|
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser)
|
rs371019314
|
0.00006
|
NM_014363.6(SACS):c.1202G>A (p.Arg401Gln)
|
rs749599838
|
0.00005
|
NM_014363.6(SACS):c.1613C>T (p.Ala538Val)
|
rs368043113
|
0.00005
|
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys)
|
rs754033201
|
0.00005
|
NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile)
|
rs200591364
|
0.00004
|
NM_014363.6(SACS):c.10256G>A (p.Arg3419His)
|
rs536675517
|
0.00004
|
NM_014363.6(SACS):c.10737G>A (p.Met3579Ile)
|
rs199970621
|
0.00004
|
NM_014363.6(SACS):c.10983G>A (p.Ala3661=)
|
rs200900703
|
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.1224C>T (p.Asp408=)
|
rs2274386
|
0.00004
|
NM_014363.6(SACS):c.12367A>G (p.Met4123Val)
|
rs772068772
|
0.00004
|
NM_014363.6(SACS):c.12968C>T (p.Ser4323Leu)
|
rs150225486
|
0.00004
|
NM_014363.6(SACS):c.1387C>A (p.His463Asn)
|
rs149951538
|
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.4255A>G (p.Ile1419Val)
|
rs138245586
|
0.00004
|
NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln)
|
rs764992284
|
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.7150G>A (p.Glu2384Lys)
|
rs762896797
|
0.00004
|
NM_014363.6(SACS):c.7916T>C (p.Ile2639Thr)
|
rs202144442
|
0.00004
|
NM_014363.6(SACS):c.8192G>A (p.Arg2731His)
|
rs201127191
|
0.00004
|
NM_014363.6(SACS):c.8336A>T (p.Gln2779Leu)
|
rs749327297
|
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.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.10675C>G (p.Pro3559Ala)
|
rs767704103
|
0.00003
|
NM_014363.6(SACS):c.10787C>T (p.Ser3596Phe)
|
rs755172172
|
0.00003
|
NM_014363.6(SACS):c.11309C>G (p.Ala3770Gly)
|
rs1170997950
|
0.00003
|
NM_014363.6(SACS):c.11886A>G (p.Ile3962Met)
|
rs1252737332
|
0.00003
|
NM_014363.6(SACS):c.12665G>A (p.Gly4222Glu)
|
rs774349752
|
0.00003
|
NM_014363.6(SACS):c.1906C>T (p.Arg636Trp)
|
rs201752905
|
0.00003
|
NM_014363.6(SACS):c.2853C>A (p.His951Gln)
|
rs200644511
|
0.00003
|
NM_014363.6(SACS):c.3052G>A (p.Glu1018Lys)
|
rs770999085
|
0.00003
|
NM_014363.6(SACS):c.4318A>G (p.Ser1440Gly)
|
rs1172044277
|
0.00003
|
NM_014363.6(SACS):c.5842G>A (p.Asp1948Asn)
|
rs772515267
|
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.9508C>T (p.Arg3170Ter)
|
rs202199411
|
0.00003
|
NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys)
|
rs747013127
|
0.00002
|
NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser)
|
rs376188585
|
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.11776G>A (p.Asp3926Asn)
|
rs756252903
|
0.00002
|
NM_014363.6(SACS):c.11942A>G (p.Gln3981Arg)
|
rs747314113
|
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.1310C>T (p.Thr437Met)
|
rs199657817
|
0.00002
|
NM_014363.6(SACS):c.2686C>T (p.Leu896Phe)
|
rs760556327
|
0.00002
|
NM_014363.6(SACS):c.494C>T (p.Thr165Ile)
|
rs1419027987
|
0.00002
|
NM_014363.6(SACS):c.4955A>G (p.Gln1652Arg)
|
rs148824690
|
0.00002
|
NM_014363.6(SACS):c.5323G>A (p.Ala1775Thr)
|
rs1002701621
|
0.00002
|
NM_014363.6(SACS):c.5630G>A (p.Arg1877Gln)
|
rs772866081
|
0.00002
|
NM_014363.6(SACS):c.6240T>C (p.Val2080=)
|
rs550680855
|
0.00002
|
NM_014363.6(SACS):c.6518T>C (p.Ile2173Thr)
|
rs368624188
|
0.00002
|
NM_014363.6(SACS):c.7171G>A (p.Val2391Met)
|
rs760087813
|
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.8716C>T (p.Arg2906Ter)
|
rs750732115
|
0.00002
|
NM_014363.6(SACS):c.8958C>T (p.His2986=)
|
rs758029668
|
0.00002
|
NM_014363.6(SACS):c.9525A>G (p.Thr3175=)
|
rs369043814
|
0.00002
|
NM_014363.6(SACS):c.9805G>A (p.Asp3269Asn)
|
rs754144089
|
0.00002
|
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter)
|
rs1057517250
|
0.00001
|
NM_014363.6(SACS):c.10276T>C (p.Phe3426Leu)
|
rs1883631517
|
0.00001
|
NM_014363.6(SACS):c.10415A>G (p.Asp3472Gly)
|
rs759801095
|
0.00001
|
NM_014363.6(SACS):c.10731A>G (p.Thr3577=)
|
rs759287298
|
0.00001
|
NM_014363.6(SACS):c.11207T>C (p.Met3736Thr)
|
rs759433888
|
0.00001
|
NM_014363.6(SACS):c.11532T>C (p.Thr3844=)
|
rs756128473
|
0.00001
|
NM_014363.6(SACS):c.11624G>A (p.Arg3875His)
|
rs863224916
|
0.00001
|
NM_014363.6(SACS):c.11737G>C (p.Asp3913His)
|
rs746782589
|
0.00001
|
NM_014363.6(SACS):c.11802C>T (p.Ile3934=)
|
rs762451306
|
0.00001
|
NM_014363.6(SACS):c.11887A>G (p.Met3963Val)
|
rs375613914
|
0.00001
|
NM_014363.6(SACS):c.11899C>G (p.Gln3967Glu)
|
rs1261408099
|
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.13273G>A (p.Gly4425Arg)
|
rs754693143
|
0.00001
|
NM_014363.6(SACS):c.13282T>G (p.Tyr4428Asp)
|
rs886050071
|
0.00001
|
NM_014363.6(SACS):c.13590T>C (p.Gly4530=)
|
rs1388411074
|
0.00001
|
NM_014363.6(SACS):c.1566T>A (p.Ser522=)
|
rs1203606581
|
0.00001
|
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu)
|
rs1440541889
|
0.00001
|
NM_014363.6(SACS):c.1846G>C (p.Ala616Pro)
|
rs200437752
|
0.00001
|
NM_014363.6(SACS):c.1907G>A (p.Arg636Gln)
|
rs368944813
|
0.00001
|
NM_014363.6(SACS):c.2092A>T (p.Arg698Trp)
|
rs965068037
|
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.2471C>T (p.Ser824Leu)
|
rs762821420
|
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.3017A>G (p.His1006Arg)
|
rs368149368
|
0.00001
|
NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala)
|
rs1443000762
|
0.00001
|
NM_014363.6(SACS):c.434C>G (p.Ser145Ter)
|
rs994374354
|
0.00001
|
NM_014363.6(SACS):c.4597T>G (p.Ser1533Ala)
|
rs1230237404
|
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.482A>G (p.Asn161Ser)
|
rs746069731
|
0.00001
|
NM_014363.6(SACS):c.4840T>C (p.Phe1614Leu)
|
rs771080306
|
0.00001
|
NM_014363.6(SACS):c.4846A>C (p.Asn1616His)
|
rs979327782
|
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.5045G>A (p.Arg1682Lys)
|
rs1269546947
|
0.00001
|
NM_014363.6(SACS):c.510C>T (p.His170=)
|
rs575556786
|
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.5732C>T (p.Thr1911Met)
|
rs368494148
|
0.00001
|
NM_014363.6(SACS):c.5848G>A (p.Asp1950Asn)
|
rs370902090
|
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.623G>T (p.Ser208Ile)
|
rs911764681
|
0.00001
|
NM_014363.6(SACS):c.6485A>G (p.Asp2162Gly)
|
rs369388933
|
0.00001
|
NM_014363.6(SACS):c.6776C>T (p.Pro2259Leu)
|
rs150098233
|
0.00001
|
NM_014363.6(SACS):c.6778A>G (p.Ile2260Val)
|
rs202110208
|
0.00001
|
NM_014363.6(SACS):c.6993A>T (p.Glu2331Asp)
|
rs759201960
|
0.00001
|
NM_014363.6(SACS):c.7262T>A (p.Phe2421Tyr)
|
rs1213144547
|
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.7406A>G (p.Asn2469Ser)
|
rs1288769278
|
0.00001
|
NM_014363.6(SACS):c.7742C>T (p.Ala2581Val)
|
rs866333277
|
0.00001
|
NM_014363.6(SACS):c.7819C>A (p.Leu2607Ile)
|
rs753584300
|
0.00001
|
NM_014363.6(SACS):c.8108G>A (p.Arg2703His)
|
rs750181262
|
0.00001
|
NM_014363.6(SACS):c.8133G>A (p.Ser2711=)
|
rs143386746
|
0.00001
|
NM_014363.6(SACS):c.814C>T (p.Arg272Cys)
|
rs374128662
|
0.00001
|
NM_014363.6(SACS):c.8166G>T (p.Met2722Ile)
|
rs1327898921
|
0.00001
|
NM_014363.6(SACS):c.8233G>A (p.Glu2745Lys)
|
rs745462710
|
0.00001
|
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile)
|
rs772742353
|
0.00001
|
NM_014363.6(SACS):c.861C>T (p.Tyr287=)
|
rs200877272
|
0.00001
|
NM_014363.6(SACS):c.8836A>G (p.Asn2946Asp)
|
rs184407783
|
0.00001
|
NM_014363.6(SACS):c.8844del (p.Ile2949fs)
|
rs281865117
|
0.00001
|
NM_014363.6(SACS):c.8889C>A (p.Phe2963Leu)
|
rs776647599
|
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.9677A>G (p.Tyr3226Cys)
|
rs776143384
|
0.00001
|
NM_014363.6(SACS):c.9680A>C (p.Lys3227Thr)
|
rs765635417
|
0.00001
|
NM_014363.6(SACS):c.9731T>A (p.Leu3244His)
|
rs886042769
|
0.00001
|
NM_014363.6(SACS):c.*20del
|
rs143617437
|
|
NM_014363.6(SACS):c.-501-78G>A
|
rs116525558
|
|
NM_014363.6(SACS):c.10124G>C (p.Arg3375Thr)
|
rs776727312
|
|
NM_014363.6(SACS):c.10158A>G (p.Ala3386=)
|
rs775633710
|
|
NM_014363.6(SACS):c.10226C>G (p.Ser3409Ter)
|
rs1566059895
|
|
NM_014363.6(SACS):c.10238A>G (p.Tyr3413Cys)
|
|
|
NM_014363.6(SACS):c.1028A>G (p.His343Arg)
|
|
|
NM_014363.6(SACS):c.10291G>A (p.Val3431Ile)
|
|
|
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu)
|
rs144179865
|
|
NM_014363.6(SACS):c.10372C>T (p.His3458Tyr)
|
rs756117709
|
|
NM_014363.6(SACS):c.10461_10462delinsAA (p.Asn3487_Leu3488delinsLysIle)
|
rs886043821
|
|
NM_014363.6(SACS):c.1061C>G (p.Thr354Ser)
|
rs1425519295
|
|
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.10765A>G (p.Ile3589Val)
|
|
|
NM_014363.6(SACS):c.10766T>C (p.Ile3589Thr)
|
|
|
NM_014363.6(SACS):c.10822_10823del (p.Ser3608fs)
|
rs1555250082
|
|
NM_014363.6(SACS):c.10939G>T (p.Glu3647Ter)
|
rs1156566314
|
|
NM_014363.6(SACS):c.11109C>T (p.Ser3703=)
|
rs1883570677
|
|
NM_014363.6(SACS):c.11137C>A (p.Pro3713Thr)
|
|
|
NM_014363.6(SACS):c.11139C>G (p.Pro3713=)
|
|
|
NM_014363.6(SACS):c.11152G>A (p.Glu3718Lys)
|
rs750040557
|
|
NM_014363.6(SACS):c.11215G>A (p.Val3739Ile)
|
rs1027336196
|
|
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs)
|
rs1400601705
|
|
NM_014363.6(SACS):c.11277G>T (p.Thr3759=)
|
rs777278208
|
|
NM_014363.6(SACS):c.11296G>A (p.Val3766Ile)
|
|
|
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)
|
rs565203731
|
|
NM_014363.6(SACS):c.11428G>A (p.Glu3810Lys)
|
rs2137566624
|
|
NM_014363.6(SACS):c.11509del (p.Gln3837fs)
|
rs2137566018
|
|
NM_014363.6(SACS):c.11539ATT[1] (p.Ile3848del)
|
rs2137565671
|
|
NM_014363.6(SACS):c.11853A>G (p.Leu3951=)
|
rs1883510768
|
|
NM_014363.6(SACS):c.11889G>A (p.Met3963Ile)
|
|
|
NM_014363.6(SACS):c.11914C>T (p.Arg3972Ter)
|
rs781491486
|
|
NM_014363.6(SACS):c.11967T>A (p.Val3989=)
|
rs764921350
|
|
NM_014363.6(SACS):c.1196G>C (p.Gly399Ala)
|
|
|
NM_014363.6(SACS):c.12028C>T (p.Gln4010Ter)
|
rs148297332
|
|
NM_014363.6(SACS):c.12077C>A (p.Ala4026Asp)
|
rs1883494822
|
|
NM_014363.6(SACS):c.12138A>G (p.Lys4046=)
|
|
|
NM_014363.6(SACS):c.12173G>A (p.Arg4058Lys)
|
|
|
NM_014363.6(SACS):c.12182G>A (p.Gly4061Asp)
|
rs1883488232
|
|
NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter)
|
rs141315518
|
|
NM_014363.6(SACS):c.12271T>C (p.Ser4091Pro)
|
|
|
NM_014363.6(SACS):c.12326C>A (p.Ala4109Glu)
|
rs2137559516
|
|
NM_014363.6(SACS):c.12404A>G (p.Lys4135Arg)
|
|
|
NM_014363.6(SACS):c.12446C>G (p.Ser4149Ter)
|
|
|
NM_014363.6(SACS):c.12533C>T (p.Pro4178Leu)
|
|
|
NM_014363.6(SACS):c.12618T>C (p.Ile4206=)
|
rs1883457103
|
|
NM_014363.6(SACS):c.12818T>G (p.Leu4273Arg)
|
|
|
NM_014363.6(SACS):c.12905C>G (p.Ser4302Cys)
|
|
|
NM_014363.6(SACS):c.12913G>T (p.Glu4305Ter)
|
rs376376974
|
|
NM_014363.6(SACS):c.12932C>A (p.Thr4311Lys)
|
|
|
NM_014363.6(SACS):c.12952T>C (p.Trp4318Arg)
|
rs762499265
|
|
NM_014363.6(SACS):c.12981_12984del (p.Ile4328fs)
|
rs1883423972
|
|
NM_014363.6(SACS):c.13038C>A (p.Asp4346Glu)
|
rs2137552312
|
|
NM_014363.6(SACS):c.13176C>G (p.Tyr4392Ter)
|
rs1285760809
|
|
NM_014363.6(SACS):c.13220G>A (p.Ser4407Asn)
|
|
|
NM_014363.6(SACS):c.13231G>A (p.Glu4411Lys)
|
rs1883408216
|
|
NM_014363.6(SACS):c.13244A>G (p.Gln4415Arg)
|
|
|
NM_014363.6(SACS):c.13316A>G (p.Lys4439Arg)
|
|
|
NM_014363.6(SACS):c.13520A>G (p.Gln4507Arg)
|
|
|
NM_014363.6(SACS):c.1354C>T (p.Pro452Ser)
|
|
|
NM_014363.6(SACS):c.13610G>A (p.Arg4537Lys)
|
|
|
NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser)
|
rs1555249106
|
|
NM_014363.6(SACS):c.13738_13739del (p.Ter4580LysextTer?)
|
rs776682685
|
|
NM_014363.6(SACS):c.1391T>G (p.Ile464Ser)
|
rs1593144937
|
|
NM_014363.6(SACS):c.1443G>A (p.Glu481=)
|
rs1020930335
|
|
NM_014363.6(SACS):c.1485T>G (p.Phe495Leu)
|
|
|
NM_014363.6(SACS):c.1498G>A (p.Val500Ile)
|
rs1244967438
|
|
NM_014363.6(SACS):c.1543C>T (p.Arg515Cys)
|
|
|
NM_014363.6(SACS):c.1662C>T (p.Ser554=)
|
rs185812845
|
|
NM_014363.6(SACS):c.1672C>T (p.Gln558Ter)
|
rs923921184
|
|
NM_014363.6(SACS):c.1783C>T (p.Gln595Ter)
|
rs2137718900
|
|
NM_014363.6(SACS):c.1925del (p.Gly642fs)
|
rs2137717323
|
|
NM_014363.6(SACS):c.1969G>T (p.Asp657Tyr)
|
rs2137716974
|
|
NM_014363.6(SACS):c.2021G>T (p.Gly674Val)
|
rs770199696
|
|
NM_014363.6(SACS):c.2037CTC[1] (p.Ser682del)
|
rs764516069
|
|
NM_014363.6(SACS):c.2096C>T (p.Ser699Phe)
|
rs374680967
|
|
NM_014363.6(SACS):c.2180C>G (p.Thr727Ser)
|
|
|
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.2186-116_2186-110dup
|
rs4068499
|
|
NM_014363.6(SACS):c.2186-116dup
|
rs4068499
|
|
NM_014363.6(SACS):c.2186-91del
|
rs4068499
|
|
NM_014363.6(SACS):c.2186-92_2186-91del
|
rs4068499
|
|
NM_014363.6(SACS):c.2223A>T (p.Glu741Asp)
|
|
|
NM_014363.6(SACS):c.2374G>C (p.Glu792Gln)
|
|
|
NM_014363.6(SACS):c.2428G>C (p.Glu810Gln)
|
|
|
NM_014363.6(SACS):c.2465T>G (p.Ile822Ser)
|
|
|
NM_014363.6(SACS):c.2475dup (p.Val826fs)
|
rs1555252909
|
|
NM_014363.6(SACS):c.247T>C (p.Leu83=)
|
rs1470292816
|
|
NM_014363.6(SACS):c.2538A>G (p.Lys846=)
|
rs1869196715
|
|
NM_014363.6(SACS):c.2562A>T (p.Lys854Asn)
|
|
|
NM_014363.6(SACS):c.2572T>G (p.Ser858Ala)
|
|
|
NM_014363.6(SACS):c.2593A>T (p.Lys865Ter)
|
rs1566072001
|
|
NM_014363.6(SACS):c.2594A>C (p.Lys865Thr)
|
|
|
NM_014363.6(SACS):c.2599T>C (p.Tyr867His)
|
rs774682589
|
|
NM_014363.6(SACS):c.2614_2619del (p.Leu872_Pro873del)
|
rs771746381
|
|
NM_014363.6(SACS):c.262C>T (p.Arg88Ter)
|
rs1555255676
|
|
NM_014363.6(SACS):c.2713A>T (p.Lys905Ter)
|
rs1593133714
|
|
NM_014363.6(SACS):c.2726G>T (p.Ser909Ile)
|
rs2137641417
|
|
NM_014363.6(SACS):c.2845G>C (p.Val949Leu)
|
rs1869160064
|
|
NM_014363.6(SACS):c.2886_2887del (p.Ser963fs)
|
rs1326359185
|
|
NM_014363.6(SACS):c.2894C>T (p.Ser965Leu)
|
|
|
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser)
|
rs139993038
|
|
NM_014363.6(SACS):c.2997T>A (p.Ile999=)
|
rs1869142388
|
|
NM_014363.6(SACS):c.3168del (p.Asp1057fs)
|
rs2137637783
|
|
NM_014363.6(SACS):c.328_330delinsAGT (p.Gly110Ser)
|
|
|
NM_014363.6(SACS):c.3292C>T (p.Leu1098Phe)
|
rs1593132851
|
|
NM_014363.6(SACS):c.3298_3301del (p.Glu1100fs)
|
rs1869112857
|
|
NM_014363.6(SACS):c.3309dup (p.Val1104fs)
|
rs2137636629
|
|
NM_014363.6(SACS):c.3370C>G (p.Leu1124Val)
|
rs2137636093
|
|
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)
|
rs144267558
|
|
NM_014363.6(SACS):c.3427C>G (p.Gln1143Glu)
|
|
|
NM_014363.6(SACS):c.346-19del
|
rs200011804
|
|
NM_014363.6(SACS):c.3533G>C (p.Cys1178Ser)
|
|
|
NM_014363.6(SACS):c.3642G>T (p.Gly1214=)
|
|
|
NM_014363.6(SACS):c.3700T>A (p.Trp1234Arg)
|
rs1192682879
|
|
NM_014363.6(SACS):c.370G>T (p.Ala124Ser)
|
|
|
NM_014363.6(SACS):c.3806_3809del (p.Ser1269fs)
|
|
|
NM_014363.6(SACS):c.382_383del (p.Glu128fs)
|
rs757179309
|
|
NM_014363.6(SACS):c.3853T>G (p.Cys1285Gly)
|
rs2137632086
|
|
NM_014363.6(SACS):c.3881C>T (p.Pro1294Leu)
|
rs1593132075
|
|
NM_014363.6(SACS):c.3912G>T (p.Leu1304Phe)
|
|
|
NM_014363.6(SACS):c.3915T>C (p.His1305=)
|
rs767598017
|
|
NM_014363.6(SACS):c.394T>G (p.Leu132Val)
|
|
|
NM_014363.6(SACS):c.4113T>A (p.Ile1371=)
|
rs1395418477
|
|
NM_014363.6(SACS):c.4114C>G (p.Pro1372Ala)
|
rs771277349
|
|
NM_014363.6(SACS):c.4117_4118delinsCT (p.Ala1373Leu)
|
rs797045938
|
|
NM_014363.6(SACS):c.4139C>G (p.Pro1380Arg)
|
|
|
NM_014363.6(SACS):c.414C>G (p.Tyr138Ter)
|
rs199474695
|
|
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter)
|
rs867249938
|
|
NM_014363.6(SACS):c.4265_4274dup (p.Asp1425_Ile1426insAlaTer)
|
rs1555252433
|
|
NM_014363.6(SACS):c.4279C>A (p.Pro1427Thr)
|
rs527513599
|
|
NM_014363.6(SACS):c.4299G>A (p.Trp1433Ter)
|
rs768209419
|
|
NM_014363.6(SACS):c.4349G>T (p.Gly1450Val)
|
|
|
NM_014363.6(SACS):c.4469C>G (p.Ala1490Gly)
|
rs886043557
|
|
NM_014363.6(SACS):c.4496T>C (p.Met1499Thr)
|
|
|
NM_014363.6(SACS):c.4522A>C (p.Asn1508His)
|
rs144653411
|
|
NM_014363.6(SACS):c.4538G>C (p.Gly1513Ala)
|
|
|
NM_014363.6(SACS):c.4546G>A (p.Ala1516Thr)
|
|
|
NM_014363.6(SACS):c.458-107_458-104del
|
rs568043080
|
|
NM_014363.6(SACS):c.4598C>G (p.Ser1533Ter)
|
rs886041813
|
|
NM_014363.6(SACS):c.4604T>G (p.Phe1535Cys)
|
rs1566068804
|
|
NM_014363.6(SACS):c.4606G>T (p.Val1536Leu)
|
rs764832688
|
|
NM_014363.6(SACS):c.4723C>T (p.Arg1575Trp)
|
|
|
NM_014363.6(SACS):c.4747C>A (p.Pro1583Thr)
|
rs1566068552
|
|
NM_014363.6(SACS):c.4756_4760del (p.Asn1586fs)
|
rs765361868
|
|
NM_014363.6(SACS):c.477C>T (p.Tyr159=)
|
rs1870531490
|
|
NM_014363.6(SACS):c.4835G>C (p.Arg1612Thr)
|
|
|
NM_014363.6(SACS):c.4877_4880del (p.Gly1626fs)
|
rs757872635
|
|
NM_014363.6(SACS):c.4911C>A (p.Tyr1637Ter)
|
rs1868929983
|
|
NM_014363.6(SACS):c.4916A>G (p.Tyr1639Cys)
|
rs1566068293
|
|
NM_014363.6(SACS):c.5008_5011del (p.Tyr1670fs)
|
rs2137622518
|
|
NM_014363.6(SACS):c.5037T>A (p.Cys1679Ter)
|
|
|
NM_014363.6(SACS):c.5065_5066del (p.Ser1689fs)
|
rs1372213267
|
|
NM_014363.6(SACS):c.5079G>A (p.Met1693Ile)
|
rs775069857
|
|
NM_014363.6(SACS):c.508C>T (p.His170Tyr)
|
|
|
NM_014363.6(SACS):c.5102A>T (p.Glu1701Val)
|
rs1868909053
|
|
NM_014363.6(SACS):c.5149_5151del (p.Lys1717del)
|
rs754439135
|
|
NM_014363.6(SACS):c.5151dup (p.Ser1718fs)
|
rs754439135
|
|
NM_014363.6(SACS):c.5162C>T (p.Ser1721Phe)
|
|
|
NM_014363.6(SACS):c.5188A>C (p.Ser1730Arg)
|
|
|
NM_014363.6(SACS):c.5263_5264del (p.Lys1755fs)
|
rs199474696
|
|
NM_014363.6(SACS):c.5304_5306del (p.His1769del)
|
rs1555252136
|
|
NM_014363.6(SACS):c.5341C>T (p.Leu1781Phe)
|
|
|
NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter)
|
rs1868872666
|
|
NM_014363.6(SACS):c.5431A>T (p.Lys1811Ter)
|
rs1085307587
|
|
NM_014363.6(SACS):c.5462G>A (p.Cys1821Tyr)
|
|
|
NM_014363.6(SACS):c.5615G>C (p.Cys1872Ser)
|
|
|
NM_014363.6(SACS):c.5668T>C (p.Phe1890Leu)
|
|
|
NM_014363.6(SACS):c.5671G>C (p.Ala1891Pro)
|
rs1868843160
|
|
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.5786G>A (p.Arg1929Gln)
|
|
|
NM_014363.6(SACS):c.579G>A (p.Gly193=)
|
|
|
NM_014363.6(SACS):c.5849A>C (p.Asp1950Ala)
|
rs375962720
|
|
NM_014363.6(SACS):c.5884G>C (p.Gly1962Arg)
|
|
|
NM_014363.6(SACS):c.5935T>G (p.Phe1979Val)
|
|
|
NM_014363.6(SACS):c.6008A>C (p.Asp2003Ala)
|
|
|
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val)
|
rs537408260
|
|
NM_014363.6(SACS):c.6044A>C (p.Tyr2015Ser)
|
rs1131691664
|
|
NM_014363.6(SACS):c.6149C>G (p.Thr2050Arg)
|
|
|
NM_014363.6(SACS):c.6179T>C (p.Val2060Ala)
|
|
|
NM_014363.6(SACS):c.6186dup (p.Pro2063fs)
|
rs2137611917
|
|
NM_014363.6(SACS):c.6290del (p.Cys2097fs)
|
rs1868755540
|
|
NM_014363.6(SACS):c.6343C>T (p.His2115Tyr)
|
rs757161092
|
|
NM_014363.6(SACS):c.6406A>T (p.Thr2136Ser)
|
rs1566066009
|
|
NM_014363.6(SACS):c.6435G>C (p.Leu2145Phe)
|
rs1593128652
|
|
NM_014363.6(SACS):c.6456T>C (p.Gly2152=)
|
rs747925179
|
|
NM_014363.6(SACS):c.6502G>T (p.Val2168Leu)
|
|
|
NM_014363.6(SACS):c.6512C>G (p.Ala2171Gly)
|
rs765626875
|
|
NM_014363.6(SACS):c.6515A>C (p.Glu2172Ala)
|
rs1566065814
|
|
NM_014363.6(SACS):c.6632A>G (p.Gln2211Arg)
|
rs1044714793
|
|
NM_014363.6(SACS):c.6702T>A (p.Phe2234Leu)
|
rs774487714
|
|
NM_014363.6(SACS):c.6730G>A (p.Asp2244Asn)
|
rs1868692401
|
|
NM_014363.6(SACS):c.6751C>A (p.Gln2251Lys)
|
rs747293426
|
|
NM_014363.6(SACS):c.6763del (p.Cys2255fs)
|
rs2137606872
|
|
NM_014363.6(SACS):c.6859A>C (p.Lys2287Gln)
|
rs1397588851
|
|
NM_014363.6(SACS):c.6932A>G (p.Tyr2311Cys)
|
rs1566065185
|
|
NM_014363.6(SACS):c.699del (p.Asp235fs)
|
rs1415870785
|
|
NM_014363.6(SACS):c.7116del (p.Gln2373fs)
|
|
|
NM_014363.6(SACS):c.712A>T (p.Lys238Ter)
|
rs764585158
|
|
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs)
|
rs1555251539
|
|
NM_014363.6(SACS):c.7210T>G (p.Leu2404Val)
|
rs1593127760
|
|
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter)
|
rs786204750
|
|
NM_014363.6(SACS):c.7306A>G (p.Ile2436Val)
|
rs567650774
|
|
NM_014363.6(SACS):c.7367C>T (p.Thr2456Ile)
|
|
|
NM_014363.6(SACS):c.7374del (p.Met2459fs)
|
rs1868615639
|
|
NM_014363.6(SACS):c.744A>G (p.Ala248=)
|
rs1448438600
|
|
NM_014363.6(SACS):c.751G>A (p.Val251Ile)
|
rs776176699
|
|
NM_014363.6(SACS):c.7644G>C (p.Glu2548Asp)
|
rs1868579030
|
|
NM_014363.6(SACS):c.7763T>C (p.Leu2588Pro)
|
rs1555251328
|
|
NM_014363.6(SACS):c.7816A>C (p.Asn2606His)
|
|
|
NM_014363.6(SACS):c.7831A>G (p.Thr2611Ala)
|
|
|
NM_014363.6(SACS):c.7940T>A (p.Ile2647Asn)
|
rs934642310
|
|
NM_014363.6(SACS):c.7990G>A (p.Gly2664Arg)
|
rs2137595708
|
|
NM_014363.6(SACS):c.7993C>T (p.Arg2665Cys)
|
|
|
NM_014363.6(SACS):c.8022T>C (p.Phe2674=)
|
rs34928783
|
|
NM_014363.6(SACS):c.8063C>A (p.Thr2688Asn)
|
|
|
NM_014363.6(SACS):c.8080A>T (p.Asn2694Tyr)
|
rs1390533003
|
|
NM_014363.6(SACS):c.8238_8239dup (p.Ile2747fs)
|
rs779248938
|
|
NM_014363.6(SACS):c.8269G>A (p.Gly2757Arg)
|
rs1085307756
|
|
NM_014363.6(SACS):c.826C>T (p.Arg276Cys)
|
|
|
NM_014363.6(SACS):c.8330G>A (p.Arg2777Lys)
|
rs1868501054
|
|
NM_014363.6(SACS):c.8340del (p.His2781fs)
|
rs753958013
|
|
NM_014363.6(SACS):c.8344_8345delinsAT (p.Ala2782Ile)
|
rs386768924
|
|
NM_014363.6(SACS):c.8362G>A (p.Val2788Ile)
|
|
|
NM_014363.6(SACS):c.8374A>T (p.Arg2792Trp)
|
|
|
NM_014363.6(SACS):c.8426A>C (p.Glu2809Ala)
|
|
|
NM_014363.6(SACS):c.8451G>A (p.Thr2817=)
|
rs749291377
|
|
NM_014363.6(SACS):c.8454G>T (p.Trp2818Cys)
|
|
|
NM_014363.6(SACS):c.847A>G (p.Ser283Gly)
|
|
|
NM_014363.6(SACS):c.8495T>C (p.Val2832Ala)
|
rs1593126225
|
|
NM_014363.6(SACS):c.8729A>G (p.Asn2910Ser)
|
rs2137589975
|
|
NM_014363.6(SACS):c.8793del (p.Lys2931fs)
|
rs767871841
|
|
NM_014363.6(SACS):c.8793dup (p.Arg2932fs)
|
rs767871841
|
|
NM_014363.6(SACS):c.8795G>A (p.Arg2932Gln)
|
|
|
NM_014363.6(SACS):c.8819C>T (p.Thr2940Ile)
|
|
|
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg)
|
rs11839380
|
|
NM_014363.6(SACS):c.8899C>A (p.Arg2967Ser)
|
rs746834684
|
|
NM_014363.6(SACS):c.8902C>T (p.Leu2968Phe)
|
rs768978881
|
|
NM_014363.6(SACS):c.8942T>C (p.Leu2981Pro)
|
|
|
NM_014363.6(SACS):c.9043A>G (p.Ile3015Val)
|
rs768103747
|
|
NM_014363.6(SACS):c.921G>A (p.Leu307=)
|
rs1870332993
|
|
NM_014363.6(SACS):c.9245G>A (p.Cys3082Tyr)
|
|
|
NM_014363.6(SACS):c.9286G>A (p.Ala3096Thr)
|
rs1085307569
|
|
NM_014363.6(SACS):c.9293del (p.Ile3098fs)
|
|
|
NM_014363.6(SACS):c.9332del (p.Asn3111fs)
|
rs1883705830
|
|
NM_014363.6(SACS):c.9359G>T (p.Arg3120Leu)
|
rs569955570
|
|
NM_014363.6(SACS):c.9412T>G (p.Tyr3138Asp)
|
rs1208382588
|
|
NM_014363.6(SACS):c.9463C>T (p.Leu3155Phe)
|
|
|
NM_014363.6(SACS):c.9519T>G (p.Phe3173Leu)
|
rs780746393
|
|
NM_014363.6(SACS):c.9537_9541del (p.Glu3179fs)
|
rs1064796097
|
|
NM_014363.6(SACS):c.9603G>C (p.Leu3201Phe)
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|
|
NM_014363.6(SACS):c.961C>T (p.Arg321Ter)
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rs1175545518
|
|
NM_014363.6(SACS):c.9635C>T (p.Ser3212Phe)
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|
|
NM_014363.6(SACS):c.972C>A (p.Asp324Glu)
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rs546652936
|
|
NM_014363.6(SACS):c.9754A>G (p.Ser3252Gly)
|
rs1593124621
|
|
NM_014363.6(SACS):c.9844C>A (p.Pro3282Thr)
|
rs2137580315
|
|
NM_014363.6(SACS):c.9905T>C (p.Leu3302Pro)
|
rs2137579752
|
|
NM_014363.6(SACS):c.9939A>G (p.Pro3313=)
|
rs1593124327
|
|
NM_014363.6(SACS):c.9956_9957del (p.Lys3319fs)
|
rs772704931
|
|
NM_014363.6(SACS):c.9970C>G (p.Leu3324Val)
|
|
|