NM_014363.6(SACS):c.-531G>A
|
rs73154650
|
0.02896
|
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.*916T>A
|
rs75389729
|
0.00926
|
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp)
|
rs35799469
|
0.00804
|
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.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.*821A>G
|
rs145184122
|
0.00401
|
NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser)
|
rs80132141
|
0.00343
|
NM_014363.6(SACS):c.*625T>A
|
rs186505479
|
0.00341
|
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.-367C>A
|
rs145469796
|
0.00245
|
NM_014363.6(SACS):c.-59C>A
|
rs150561537
|
0.00242
|
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.*777T>C
|
rs77645021
|
0.00211
|
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.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.7528G>A (p.Ala2510Thr)
|
rs111920492
|
0.00131
|
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.*1108G>A
|
rs139956143
|
0.00098
|
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile)
|
rs150981983
|
0.00097
|
NM_014363.6(SACS):c.-331A>C
|
rs560626127
|
0.00092
|
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.-173C>A
|
rs139517739
|
0.00085
|
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.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.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.*569G>A
|
rs554938605
|
0.00039
|
NM_014363.6(SACS):c.*942A>G
|
rs886050068
|
0.00037
|
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.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.3042A>G (p.Leu1014=)
|
rs141982796
|
0.00030
|
NM_014363.6(SACS):c.*222T>C
|
rs577703833
|
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.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.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.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.*394G>A
|
rs956360764
|
0.00016
|
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.10298C>T (p.Thr3433Ile)
|
rs200991790
|
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.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.12647A>G (p.Asp4216Gly)
|
rs550068559
|
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.10076C>T (p.Thr3359Ile)
|
rs368089670
|
0.00011
|
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.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.7288G>A (p.Glu2430Lys)
|
rs201798841
|
0.00011
|
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.5368G>A (p.Ala1790Thr)
|
rs147517201
|
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.2996T>C (p.Ile999Thr)
|
rs371869943
|
0.00009
|
NM_014363.6(SACS):c.5744A>G (p.His1915Arg)
|
rs144822691
|
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.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.7394C>T (p.Ser2465Leu)
|
rs747676277
|
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.175T>A (p.Ser59Thr)
|
rs539836931
|
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.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.10790A>G (p.Gln3597Arg)
|
rs1299454627
|
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.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.2024A>G (p.Asn675Ser)
|
rs146395198
|
0.00006
|
NM_014363.6(SACS):c.2423T>C (p.Leu808Pro)
|
rs923118368
|
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.432G>T (p.Trp144Cys)
|
rs368570790
|
0.00006
|
NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu)
|
rs755723511
|
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.11884A>T (p.Ile3962Leu)
|
rs746953932
|
0.00005
|
NM_014363.6(SACS):c.1202G>A (p.Arg401Gln)
|
rs749599838
|
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.3729A>G (p.Glu1243=)
|
rs756663705
|
0.00005
|
NM_014363.6(SACS):c.396A>G (p.Leu132=)
|
rs1256540997
|
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.7614A>C (p.Ala2538=)
|
rs142697365
|
0.00005
|
NM_014363.6(SACS):c.*1200A>G
|
rs558041482
|
0.00004
|
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.10438C>T (p.His3480Tyr)
|
rs761189797
|
0.00004
|
NM_014363.6(SACS):c.10576A>G (p.Ile3526Val)
|
rs199881455
|
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.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.1224C>T (p.Asp408=)
|
rs2274386
|
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.1297G>C (p.Ala433Pro)
|
rs770677319
|
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.1791A>T (p.Ser597=)
|
rs371175405
|
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.2597A>G (p.Lys866Arg)
|
rs761960824
|
0.00004
|
NM_014363.6(SACS):c.2927G>A (p.Arg976His)
|
rs751415868
|
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.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.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.6496C>T (p.Arg2166Cys)
|
rs764516788
|
0.00004
|
NM_014363.6(SACS):c.6561C>T (p.Ile2187=)
|
rs143477126
|
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.7916T>C (p.Ile2639Thr)
|
rs202144442
|
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.874G>T (p.Val292Phe)
|
rs760555463
|
0.00004
|
NM_014363.6(SACS):c.9031A>G (p.Ile3011Val)
|
rs377657177
|
0.00004
|
NM_014363.6(SACS):c.9251T>C (p.Ile3084Thr)
|
rs149290718
|
0.00004
|
NM_014363.6(SACS):c.9947A>C (p.Gln3316Pro)
|
rs775506976
|
0.00004
|
NM_014363.6(SACS):c.*882A>C
|
rs886050069
|
0.00003
|
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.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.13621T>A (p.Leu4541Met)
|
rs769260277
|
0.00003
|
NM_014363.6(SACS):c.1886C>T (p.Ala629Val)
|
rs760505057
|
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.2853C>A (p.His951Gln)
|
rs200644511
|
0.00003
|
NM_014363.6(SACS):c.3052G>A (p.Glu1018Lys)
|
rs770999085
|
0.00003
|
NM_014363.6(SACS):c.345+14C>T
|
rs538944334
|
0.00003
|
NM_014363.6(SACS):c.4318A>G (p.Ser1440Gly)
|
rs1172044277
|
0.00003
|
NM_014363.6(SACS):c.5169A>G (p.Ala1723=)
|
rs200699984
|
0.00003
|
NM_014363.6(SACS):c.5842G>A (p.Asp1948Asn)
|
rs772515267
|
0.00003
|
NM_014363.6(SACS):c.7101G>A (p.Ala2367=)
|
rs764702321
|
0.00003
|
NM_014363.6(SACS):c.7497C>T (p.Val2499=)
|
rs774558627
|
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.9887C>T (p.Pro3296Leu)
|
rs779195622
|
0.00003
|
NM_014363.6(SACS):c.*218T>C
|
rs907847986
|
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.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.11776G>A (p.Asp3926Asn)
|
rs756252903
|
0.00002
|
NM_014363.6(SACS):c.11901A>G (p.Gln3967=)
|
rs572068106
|
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.1310C>T (p.Thr437Met)
|
rs199657817
|
0.00002
|
NM_014363.6(SACS):c.13694C>A (p.Ala4565Asp)
|
rs375722463
|
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.2403A>G (p.Pro801=)
|
rs758503842
|
0.00002
|
NM_014363.6(SACS):c.2686C>T (p.Leu896Phe)
|
rs760556327
|
0.00002
|
NM_014363.6(SACS):c.2791A>T (p.Asn931Tyr)
|
rs190383030
|
0.00002
|
NM_014363.6(SACS):c.3550C>T (p.Pro1184Ser)
|
rs200831217
|
0.00002
|
NM_014363.6(SACS):c.4814G>C (p.Ser1605Thr)
|
rs770007806
|
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.5222C>T (p.Thr1741Ile)
|
rs201724656
|
0.00002
|
NM_014363.6(SACS):c.5323G>A (p.Ala1775Thr)
|
rs1002701621
|
0.00002
|
NM_014363.6(SACS):c.5356G>A (p.Asp1786Asn)
|
rs763496360
|
0.00002
|
NM_014363.6(SACS):c.5466T>C (p.Thr1822=)
|
rs757576348
|
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.6240T>C (p.Val2080=)
|
rs550680855
|
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.7171G>A (p.Val2391Met)
|
rs760087813
|
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.7454A>T (p.His2485Leu)
|
rs1420170258
|
0.00002
|
NM_014363.6(SACS):c.7466C>A (p.Pro2489His)
|
rs766553685
|
0.00002
|
NM_014363.6(SACS):c.7988C>T (p.Pro2663Leu)
|
rs377626385
|
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.9805G>A (p.Asp3269Asn)
|
rs754144089
|
0.00002
|
NM_014363.6(SACS):c.*307A>G
|
rs576860445
|
0.00001
|
NM_014363.6(SACS):c.*461G>A
|
rs1003496096
|
0.00001
|
NM_014363.6(SACS):c.*711A>G
|
rs368233436
|
0.00001
|
NM_014363.6(SACS):c.-470C>T
|
rs748973703
|
0.00001
|
NM_014363.6(SACS):c.-489G>A
|
rs886050091
|
0.00001
|
NM_014363.6(SACS):c.-70G>A
|
rs575970347
|
0.00001
|
NM_014363.6(SACS):c.10034T>C (p.Val3345Ala)
|
rs767926148
|
0.00001
|
NM_014363.6(SACS):c.1004C>T (p.Ser335Leu)
|
rs767435985
|
0.00001
|
NM_014363.6(SACS):c.10096C>T (p.His3366Tyr)
|
rs1388546547
|
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.10508_10510del (p.Arg3503_Leu3504delinsIle)
|
rs1555250190
|
0.00001
|
NM_014363.6(SACS):c.10699G>A (p.Glu3567Lys)
|
rs886050078
|
0.00001
|
NM_014363.6(SACS):c.10819A>G (p.Ile3607Val)
|
rs372494676
|
0.00001
|
NM_014363.6(SACS):c.10862T>C (p.Leu3621Ser)
|
rs1397997962
|
0.00001
|
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln)
|
rs281865119
|
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.1115C>T (p.Thr372Ile)
|
rs1296261982
|
0.00001
|
NM_014363.6(SACS):c.11207T>C (p.Met3736Thr)
|
rs759433888
|
0.00001
|
NM_014363.6(SACS):c.11409G>T (p.Trp3803Cys)
|
rs886050075
|
0.00001
|
NM_014363.6(SACS):c.11624G>A (p.Arg3875His)
|
rs863224916
|
0.00001
|
NM_014363.6(SACS):c.11684T>G (p.Val3895Gly)
|
rs766487632
|
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.11887A>G (p.Met3963Val)
|
rs375613914
|
0.00001
|
NM_014363.6(SACS):c.11899C>G (p.Gln3967Glu)
|
rs1261408099
|
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.1229T>C (p.Leu410Ser)
|
rs777556535
|
0.00001
|
NM_014363.6(SACS):c.1236T>A (p.Asp412Glu)
|
rs752472671
|
0.00001
|
NM_014363.6(SACS):c.12500C>T (p.Thr4167Ile)
|
rs764098635
|
0.00001
|
NM_014363.6(SACS):c.12581A>G (p.Tyr4194Cys)
|
rs1486450052
|
0.00001
|
NM_014363.6(SACS):c.12635G>A (p.Arg4212Lys)
|
rs1490155590
|
0.00001
|
NM_014363.6(SACS):c.12661C>G (p.Leu4221Val)
|
rs767622491
|
0.00001
|
NM_014363.6(SACS):c.12688G>A (p.Gly4230Ser)
|
rs746194271
|
0.00001
|
NM_014363.6(SACS):c.12816C>T (p.Gly4272=)
|
rs142643824
|
0.00001
|
NM_014363.6(SACS):c.12835C>G (p.Leu4279Val)
|
rs537725928
|
0.00001
|
NM_014363.6(SACS):c.1306G>A (p.Ala436Thr)
|
rs1403003359
|
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.13281T>A (p.Thr4427=)
|
rs1360709632
|
0.00001
|
NM_014363.6(SACS):c.13282T>G (p.Tyr4428Asp)
|
rs886050071
|
0.00001
|
NM_014363.6(SACS):c.13284C>T (p.Tyr4428=)
|
rs753277514
|
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.13538G>A (p.Ser4513Asn)
|
rs138328181
|
0.00001
|
NM_014363.6(SACS):c.13574C>G (p.Thr4525Arg)
|
rs750412600
|
0.00001
|
NM_014363.6(SACS):c.1421G>A (p.Arg474His)
|
rs1271593930
|
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.1728C>T (p.Tyr576=)
|
rs750748828
|
0.00001
|
NM_014363.6(SACS):c.1752A>G (p.Leu584=)
|
rs368626712
|
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.1859C>G (p.Thr620Arg)
|
rs1159082212
|
0.00001
|
NM_014363.6(SACS):c.1907G>A (p.Arg636Gln)
|
rs368944813
|
0.00001
|
NM_014363.6(SACS):c.2023A>T (p.Asn675Tyr)
|
rs374667929
|
0.00001
|
NM_014363.6(SACS):c.2092A>T (p.Arg698Trp)
|
rs965068037
|
0.00001
|
NM_014363.6(SACS):c.2110C>A (p.Leu704Ile)
|
rs767844042
|
0.00001
|
NM_014363.6(SACS):c.2148C>T (p.His716=)
|
rs780789330
|
0.00001
|
NM_014363.6(SACS):c.2233C>T (p.Arg745Cys)
|
rs536614181
|
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.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.3017A>G (p.His1006Arg)
|
rs368149368
|
0.00001
|
NM_014363.6(SACS):c.3060A>G (p.Leu1020=)
|
rs746764976
|
0.00001
|
NM_014363.6(SACS):c.3242C>T (p.Pro1081Leu)
|
rs377493083
|
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.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.3408T>G (p.Asn1136Lys)
|
rs756303420
|
0.00001
|
NM_014363.6(SACS):c.3417C>T (p.His1139=)
|
rs758862765
|
0.00001
|
NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala)
|
rs1443000762
|
0.00001
|
NM_014363.6(SACS):c.3545C>T (p.Ala1182Val)
|
rs373859681
|
0.00001
|
NM_014363.6(SACS):c.3868G>T (p.Ala1290Ser)
|
rs757939935
|
0.00001
|
NM_014363.6(SACS):c.4149T>C (p.His1383=)
|
rs749219225
|
0.00001
|
NM_014363.6(SACS):c.4597T>G (p.Ser1533Ala)
|
rs1230237404
|
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.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.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.4913G>A (p.Ser1638Asn)
|
rs774163551
|
0.00001
|
NM_014363.6(SACS):c.4963A>G (p.Lys1655Glu)
|
rs1035497308
|
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.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.5848G>A (p.Asp1950Asn)
|
rs370902090
|
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.5975G>A (p.Arg1992Lys)
|
rs758101602
|
0.00001
|
NM_014363.6(SACS):c.598A>G (p.Ile200Val)
|
rs762268076
|
0.00001
|
NM_014363.6(SACS):c.6096G>A (p.Ser2032=)
|
rs756027210
|
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.6383A>G (p.Asp2128Gly)
|
rs762352013
|
0.00001
|
NM_014363.6(SACS):c.6485A>G (p.Asp2162Gly)
|
rs369388933
|
0.00001
|
NM_014363.6(SACS):c.6577G>A (p.Asp2193Asn)
|
rs149278134
|
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.6857A>G (p.Lys2286Arg)
|
rs754381972
|
0.00001
|
NM_014363.6(SACS):c.6993A>T (p.Glu2331Asp)
|
rs759201960
|
0.00001
|
NM_014363.6(SACS):c.7100C>T (p.Ala2367Val)
|
rs752273313
|
0.00001
|
NM_014363.6(SACS):c.7187C>G (p.Thr2396Ser)
|
rs1303289497
|
0.00001
|
NM_014363.6(SACS):c.7246A>G (p.Ile2416Val)
|
rs774907744
|
0.00001
|
NM_014363.6(SACS):c.7262T>A (p.Phe2421Tyr)
|
rs1213144547
|
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.7376T>C (p.Met2459Thr)
|
rs767864000
|
0.00001
|
NM_014363.6(SACS):c.7406A>G (p.Asn2469Ser)
|
rs1288769278
|
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.7742C>T (p.Ala2581Val)
|
rs866333277
|
0.00001
|
NM_014363.6(SACS):c.7817A>G (p.Asn2606Ser)
|
rs1191066514
|
0.00001
|
NM_014363.6(SACS):c.7819C>A (p.Leu2607Ile)
|
rs753584300
|
0.00001
|
NM_014363.6(SACS):c.7833G>A (p.Thr2611=)
|
rs1237743096
|
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.8108G>A (p.Arg2703His)
|
rs750181262
|
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.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.8233G>A (p.Glu2745Lys)
|
rs745462710
|
0.00001
|
NM_014363.6(SACS):c.8281G>A (p.Val2761Met)
|
rs372119773
|
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.8799T>C (p.Tyr2933=)
|
rs779302353
|
0.00001
|
NM_014363.6(SACS):c.8836A>G (p.Asn2946Asp)
|
rs184407783
|
0.00001
|
NM_014363.6(SACS):c.8889C>A (p.Phe2963Leu)
|
rs776647599
|
0.00001
|
NM_014363.6(SACS):c.8900G>A (p.Arg2967His)
|
rs777753707
|
0.00001
|
NM_014363.6(SACS):c.8956C>G (p.His2986Asp)
|
rs751888795
|
0.00001
|
NM_014363.6(SACS):c.9008G>C (p.Gly3003Ala)
|
rs1170753806
|
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.9292A>G (p.Ile3098Val)
|
rs745664974
|
0.00001
|
NM_014363.6(SACS):c.944A>G (p.Asp315Gly)
|
rs771115225
|
0.00001
|
NM_014363.6(SACS):c.9492A>C (p.Gln3164His)
|
rs1025915131
|
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.*1039C>T
|
rs1593117762
|
|
NM_014363.6(SACS):c.*1142G>A
|
rs1883304820
|
|
NM_014363.6(SACS):c.*1162C>G
|
rs1883303203
|
|
NM_014363.6(SACS):c.*1292A>T
|
rs147476665
|
|
NM_014363.6(SACS):c.*716T>G
|
rs1883326909
|
|
NM_014363.6(SACS):c.*919T>C
|
rs1883315768
|
|
NM_014363.6(SACS):c.-502+2T>G
|
rs1874525003
|
|
NM_014363.6(SACS):c.10011C>G (p.Ile3337Met)
|
rs780642116
|
|
NM_014363.6(SACS):c.10063A>G (p.Ile3355Val)
|
|
|
NM_014363.6(SACS):c.10064T>G (p.Ile3355Arg)
|
rs372488932
|
|
NM_014363.6(SACS):c.10076C>A (p.Thr3359Lys)
|
rs368089670
|
|
NM_014363.6(SACS):c.10124G>C (p.Arg3375Thr)
|
rs776727312
|
|
NM_014363.6(SACS):c.10126G>A (p.Ala3376Thr)
|
|
|
NM_014363.6(SACS):c.10158A>G (p.Ala3386=)
|
rs775633710
|
|
NM_014363.6(SACS):c.10175A>G (p.Asn3392Ser)
|
rs746316505
|
|
NM_014363.6(SACS):c.10197G>A (p.Met3399Ile)
|
|
|
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.10298C>G (p.Thr3433Arg)
|
rs200991790
|
|
NM_014363.6(SACS):c.10327A>C (p.Lys3443Gln)
|
rs768317695
|
|
NM_014363.6(SACS):c.10340C>T (p.Ser3447Leu)
|
rs2137575641
|
|
NM_014363.6(SACS):c.10372C>T (p.His3458Tyr)
|
rs756117709
|
|
NM_014363.6(SACS):c.10387T>C (p.Tyr3463His)
|
rs1883623876
|
|
NM_014363.6(SACS):c.10424_10426del (p.Glu3475del)
|
rs1555250217
|
|
NM_014363.6(SACS):c.10461_10462delinsAA (p.Asn3487_Leu3488delinsLysIle)
|
rs886043821
|
|
NM_014363.6(SACS):c.10513T>C (p.Ser3505Pro)
|
rs1883615724
|
|
NM_014363.6(SACS):c.10515A>C (p.Ser3505=)
|
rs1883615412
|
|
NM_014363.6(SACS):c.10518T>G (p.Ser3506Arg)
|
|
|
NM_014363.6(SACS):c.10534G>C (p.Glu3512Gln)
|
rs1883614344
|
|
NM_014363.6(SACS):c.1058G>A (p.Gly353Glu)
|
|
|
NM_014363.6(SACS):c.1061C>G (p.Thr354Ser)
|
rs1425519295
|
|
NM_014363.6(SACS):c.10651_10656del (p.Met3551_Leu3552del)
|
rs1555250156
|
|
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.10705C>T (p.Leu3569Phe)
|
rs1883603870
|
|
NM_014363.6(SACS):c.10708A>T (p.Ile3570Leu)
|
rs878854977
|
|
NM_014363.6(SACS):c.10716C>G (p.Pro3572=)
|
rs886050077
|
|
NM_014363.6(SACS):c.10724A>T (p.His3575Leu)
|
rs370579192
|
|
NM_014363.6(SACS):c.10730C>A (p.Thr3577Lys)
|
|
|
NM_014363.6(SACS):c.10755_10757del (p.Phe3585del)
|
rs771277098
|
|
NM_014363.6(SACS):c.10765A>G (p.Ile3589Val)
|
|
|
NM_014363.6(SACS):c.10766T>C (p.Ile3589Thr)
|
|
|
NM_014363.6(SACS):c.10780A>G (p.Ile3594Val)
|
rs994425261
|
|
NM_014363.6(SACS):c.10780A>T (p.Ile3594Leu)
|
rs994425261
|
|
NM_014363.6(SACS):c.10791_10792delinsAA (p.Gln3598Lys)
|
|
|
NM_014363.6(SACS):c.10880T>G (p.Ile3627Ser)
|
|
|
NM_014363.6(SACS):c.10901A>C (p.Gln3634Pro)
|
rs150900362
|
|
NM_014363.6(SACS):c.10917G>T (p.Leu3639Phe)
|
|
|
NM_014363.6(SACS):c.10967C>G (p.Pro3656Arg)
|
rs886050076
|
|
NM_014363.6(SACS):c.11003C>G (p.Pro3668Arg)
|
rs1883577094
|
|
NM_014363.6(SACS):c.11008_11013del (p.Tyr3670_Gln3671del)
|
rs2137570036
|
|
NM_014363.6(SACS):c.11027C>T (p.Thr3676Ile)
|
rs1883575875
|
|
NM_014363.6(SACS):c.11066C>T (p.Pro3689Leu)
|
|
|
NM_014363.6(SACS):c.11101T>C (p.Trp3701Arg)
|
rs773588375
|
|
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.11143A>G (p.Ser3715Gly)
|
|
|
NM_014363.6(SACS):c.11152G>A (p.Glu3718Lys)
|
rs750040557
|
|
NM_014363.6(SACS):c.11165G>A (p.Ser3722Asn)
|
|
|
NM_014363.6(SACS):c.11168A>T (p.Asp3723Val)
|
|
|
NM_014363.6(SACS):c.11215G>A (p.Val3739Ile)
|
rs1027336196
|
|
NM_014363.6(SACS):c.11227C>T (p.Pro3743Ser)
|
|
|
NM_014363.6(SACS):c.11257A>G (p.Arg3753Gly)
|
rs1883560944
|
|
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet)
|
|
|
NM_014363.6(SACS):c.11291A>C (p.Glu3764Ala)
|
rs1593122374
|
|
NM_014363.6(SACS):c.11296G>A (p.Val3766Ile)
|
|
|
NM_014363.6(SACS):c.11317T>G (p.Leu3773Val)
|
|
|
NM_014363.6(SACS):c.11319_11321del (p.Arg3774del)
|
rs1883553503
|
|
NM_014363.6(SACS):c.11326A>G (p.Ile3776Val)
|
rs770269690
|
|
NM_014363.6(SACS):c.11335T>A (p.Phe3779Ile)
|
|
|
NM_014363.6(SACS):c.11348A>G (p.Glu3783Gly)
|
rs1048404551
|
|
NM_014363.6(SACS):c.11350A>G (p.Lys3784Glu)
|
|
|
NM_014363.6(SACS):c.11402A>G (p.Asp3801Gly)
|
|
|
NM_014363.6(SACS):c.11428G>A (p.Glu3810Lys)
|
rs2137566624
|
|
NM_014363.6(SACS):c.11432T>C (p.Val3811Ala)
|
rs2137566609
|
|
NM_014363.6(SACS):c.11500A>G (p.Thr3834Ala)
|
|
|
NM_014363.6(SACS):c.11517C>G (p.Phe3839Leu)
|
|
|
NM_014363.6(SACS):c.11539ATT[1] (p.Ile3848del)
|
rs2137565671
|
|
NM_014363.6(SACS):c.1153A>G (p.Lys385Glu)
|
rs1281714392
|
|
NM_014363.6(SACS):c.11540T>C (p.Ile3847Thr)
|
|
|
NM_014363.6(SACS):c.11561T>C (p.Val3854Ala)
|
|
|
NM_014363.6(SACS):c.11623C>T (p.Arg3875Cys)
|
|
|
NM_014363.6(SACS):c.11679_11681delinsTAG (p.Lys3894Arg)
|
|
|
NM_014363.6(SACS):c.11693A>G (p.Asp3898Gly)
|
|
|
NM_014363.6(SACS):c.1173T>C (p.Ser391=)
|
rs150683286
|
|
NM_014363.6(SACS):c.11774A>T (p.Asp3925Val)
|
|
|
NM_014363.6(SACS):c.11792A>G (p.Lys3931Arg)
|
rs764554878
|
|
NM_014363.6(SACS):c.11826G>T (p.Met3942Ile)
|
|
|
NM_014363.6(SACS):c.11853A>G (p.Leu3951=)
|
rs1883510768
|
|
NM_014363.6(SACS):c.11857_11859del (p.Lys3953del)
|
rs1555249772
|
|
NM_014363.6(SACS):c.11889G>A (p.Met3963Ile)
|
|
|
NM_014363.6(SACS):c.11926A>C (p.Ser3976Arg)
|
|
|
NM_014363.6(SACS):c.11927G>A (p.Ser3976Asn)
|
rs1883504909
|
|
NM_014363.6(SACS):c.11963A>G (p.Lys3988Arg)
|
rs1883502413
|
|
NM_014363.6(SACS):c.11965G>T (p.Val3989Phe)
|
|
|
NM_014363.6(SACS):c.1196G>C (p.Gly399Ala)
|
|
|
NM_014363.6(SACS):c.11976T>G (p.Phe3992Leu)
|
|
|
NM_014363.6(SACS):c.11984_11986dup (p.Leu3995_Cys3996insLeu)
|
|
|
NM_014363.6(SACS):c.12020C>T (p.Ser4007Phe)
|
rs1314135259
|
|
NM_014363.6(SACS):c.12025G>A (p.Glu4009Lys)
|
rs990358595
|
|
NM_014363.6(SACS):c.12035T>C (p.Ile4012Thr)
|
rs1883497856
|
|
NM_014363.6(SACS):c.12063T>C (p.His4021=)
|
rs886050074
|
|
NM_014363.6(SACS):c.12073A>G (p.Asn4025Asp)
|
rs1883495382
|
|
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>A (p.Arg4078=)
|
rs141315518
|
|
NM_014363.6(SACS):c.12233G>A (p.Arg4078Gln)
|
|
|
NM_014363.6(SACS):c.12242A>G (p.Asn4081Ser)
|
rs1060503432
|
|
NM_014363.6(SACS):c.12256C>A (p.Leu4086Ile)
|
|
|
NM_014363.6(SACS):c.12257T>G (p.Leu4086Arg)
|
|
|
NM_014363.6(SACS):c.12271T>C (p.Ser4091Pro)
|
|
|
NM_014363.6(SACS):c.12286A>G (p.Ile4096Val)
|
|
|
NM_014363.6(SACS):c.12326C>A (p.Ala4109Glu)
|
rs2137559516
|
|
NM_014363.6(SACS):c.12404A>G (p.Lys4135Arg)
|
|
|
NM_014363.6(SACS):c.12434C>G (p.Ser4145Cys)
|
|
|
NM_014363.6(SACS):c.12440A>T (p.Glu4147Val)
|
|
|
NM_014363.6(SACS):c.12442C>T (p.Pro4148Ser)
|
rs968562650
|
|
NM_014363.6(SACS):c.12465G>C (p.Met4155Ile)
|
|
|
NM_014363.6(SACS):c.1252C>G (p.Pro418Ala)
|
|
|
NM_014363.6(SACS):c.12532C>T (p.Pro4178Ser)
|
|
|
NM_014363.6(SACS):c.12533C>T (p.Pro4178Leu)
|
|
|
NM_014363.6(SACS):c.12618T>C (p.Ile4206=)
|
rs1883457103
|
|
NM_014363.6(SACS):c.12673T>C (p.Tyr4225His)
|
|
|
NM_014363.6(SACS):c.12682G>C (p.Asp4228His)
|
rs1447327391
|
|
NM_014363.6(SACS):c.12693T>C (p.Tyr4231=)
|
rs1163399365
|
|
NM_014363.6(SACS):c.12700T>C (p.Tyr4234His)
|
rs886050073
|
|
NM_014363.6(SACS):c.12775_12777del (p.Pro4259del)
|
rs1555249469
|
|
NM_014363.6(SACS):c.12812C>T (p.Pro4271Leu)
|
rs779668584
|
|
NM_014363.6(SACS):c.12818T>G (p.Leu4273Arg)
|
|
|
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.12830CTC[1] (p.Pro4278del)
|
rs764766520
|
|
NM_014363.6(SACS):c.12835_12837del (p.Leu4279del)
|
rs1555249424
|
|
NM_014363.6(SACS):c.12842C>G (p.Ser4281Cys)
|
|
|
NM_014363.6(SACS):c.12866C>A (p.Ser4289Tyr)
|
|
|
NM_014363.6(SACS):c.12884C>T (p.Pro4295Leu)
|
rs781029021
|
|
NM_014363.6(SACS):c.12896A>G (p.Lys4299Arg)
|
|
|
NM_014363.6(SACS):c.12899T>A (p.Val4300Asp)
|
|
|
NM_014363.6(SACS):c.12905C>A (p.Ser4302Tyr)
|
rs778808568
|
|
NM_014363.6(SACS):c.12905C>G (p.Ser4302Cys)
|
|
|
NM_014363.6(SACS):c.12932C>A (p.Thr4311Lys)
|
|
|
NM_014363.6(SACS):c.12934_12935delinsAA (p.Ser4312Asn)
|
|
|
NM_014363.6(SACS):c.12952T>C (p.Trp4318Arg)
|
rs762499265
|
|
NM_014363.6(SACS):c.12991C>T (p.Arg4331Trp)
|
rs1555249369
|
|
NM_014363.6(SACS):c.13031A>G (p.Asn4344Ser)
|
rs886050072
|
|
NM_014363.6(SACS):c.13038C>A (p.Asp4346Glu)
|
rs2137552312
|
|
NM_014363.6(SACS):c.13079A>T (p.Asn4360Ile)
|
|
|
NM_014363.6(SACS):c.1310C>G (p.Thr437Arg)
|
rs199657817
|
|
NM_014363.6(SACS):c.13112A>G (p.Asn4371Ser)
|
|
|
NM_014363.6(SACS):c.13122G>C (p.Arg4374Ser)
|
rs2137551679
|
|
NM_014363.6(SACS):c.13165T>G (p.Ser4389Ala)
|
rs2137551379
|
|
NM_014363.6(SACS):c.13214C>T (p.Ala4405Val)
|
rs1300062381
|
|
NM_014363.6(SACS):c.13220G>A (p.Ser4407Asn)
|
|
|
NM_014363.6(SACS):c.13225A>G (p.Lys4409Glu)
|
rs775817492
|
|
NM_014363.6(SACS):c.13231G>A (p.Glu4411Lys)
|
rs1883408216
|
|
NM_014363.6(SACS):c.13244A>G (p.Gln4415Arg)
|
|
|
NM_014363.6(SACS):c.13271C>T (p.Ala4424Val)
|
rs1883403045
|
|
NM_014363.6(SACS):c.13281_13282delinsAG (p.Tyr4428Asp)
|
|
|
NM_014363.6(SACS):c.13286C>G (p.Ser4429Cys)
|
rs765818580
|
|
NM_014363.6(SACS):c.13295T>C (p.Phe4432Ser)
|
|
|
NM_014363.6(SACS):c.13316A>G (p.Lys4439Arg)
|
|
|
NM_014363.6(SACS):c.1331C>G (p.Ala444Gly)
|
rs951437363
|
|
NM_014363.6(SACS):c.13320G>A (p.Ser4440=)
|
rs759847087
|
|
NM_014363.6(SACS):c.13349G>A (p.Trp4450Ter)
|
rs1555249236
|
|
NM_014363.6(SACS):c.13360del (p.Ala4454fs)
|
rs1555249223
|
|
NM_014363.6(SACS):c.13378_13379delinsTA (p.Ala4460Tyr)
|
rs1566054479
|
|
NM_014363.6(SACS):c.13393del (p.Leu4465fs)
|
rs1555249211
|
|
NM_014363.6(SACS):c.13409A>G (p.Asn4470Ser)
|
rs757326594
|
|
NM_014363.6(SACS):c.13474G>A (p.Val4492Met)
|
rs774647600
|
|
NM_014363.6(SACS):c.13512A>G (p.Ala4504=)
|
rs886050070
|
|
NM_014363.6(SACS):c.13520A>G (p.Gln4507Arg)
|
|
|
NM_014363.6(SACS):c.13526T>C (p.Ile4509Thr)
|
|
|
NM_014363.6(SACS):c.13540C>T (p.Gln4514Ter)
|
rs1555249133
|
|
NM_014363.6(SACS):c.1354C>T (p.Pro452Ser)
|
|
|
NM_014363.6(SACS):c.13563T>C (p.Asn4521=)
|
rs766497653
|
|
NM_014363.6(SACS):c.13588G>T (p.Gly4530Cys)
|
rs2137547970
|
|
NM_014363.6(SACS):c.13601del (p.Ser4533_Leu4534insTer)
|
|
|
NM_014363.6(SACS):c.13610G>A (p.Arg4537Lys)
|
|
|
NM_014363.6(SACS):c.13614C>G (p.Tyr4538Ter)
|
rs927804920
|
|
NM_014363.6(SACS):c.1363G>A (p.Glu455Lys)
|
|
|
NM_014363.6(SACS):c.13645A>G (p.Asn4549Asp)
|
rs1178912631
|
|
NM_014363.6(SACS):c.13646A>G (p.Asn4549Ser)
|
|
|
NM_014363.6(SACS):c.13660T>A (p.Ser4554Thr)
|
|
|
NM_014363.6(SACS):c.13699A>G (p.Ile4567Val)
|
|
|
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.1417A>G (p.Asn473Asp)
|
rs2137722315
|
|
NM_014363.6(SACS):c.1420C>T (p.Arg474Cys)
|
rs746704660
|
|
NM_014363.6(SACS):c.1435_1436insTTT (p.Lys478_Trp479insPhe)
|
rs1555254306
|
|
NM_014363.6(SACS):c.1485T>G (p.Phe495Leu)
|
|
|
NM_014363.6(SACS):c.1498G>A (p.Val500Ile)
|
rs1244967438
|
|
NM_014363.6(SACS):c.1507A>G (p.Lys503Glu)
|
|
|
NM_014363.6(SACS):c.1510G>A (p.Ala504Thr)
|
|
|
NM_014363.6(SACS):c.1525A>G (p.Ile509Val)
|
rs1566080067
|
|
NM_014363.6(SACS):c.1543C>T (p.Arg515Cys)
|
|
|
NM_014363.6(SACS):c.1593C>G (p.Ile531Met)
|
rs113756713
|
|
NM_014363.6(SACS):c.1627G>A (p.Val543Met)
|
rs752705095
|
|
NM_014363.6(SACS):c.1639C>G (p.Pro547Ala)
|
rs2137720410
|
|
NM_014363.6(SACS):c.1642G>A (p.Val548Met)
|
|
|
NM_014363.6(SACS):c.1693A>C (p.Ile565Leu)
|
rs772240153
|
|
NM_014363.6(SACS):c.1799A>G (p.Gln600Arg)
|
rs1348513054
|
|
NM_014363.6(SACS):c.1807A>G (p.Lys603Glu)
|
rs983822008
|
|
NM_014363.6(SACS):c.1837C>G (p.Gln613Glu)
|
|
|
NM_014363.6(SACS):c.1853C>T (p.Ser618Phe)
|
|
|
NM_014363.6(SACS):c.1859C>T (p.Thr620Ile)
|
|
|
NM_014363.6(SACS):c.1969G>T (p.Asp657Tyr)
|
rs2137716974
|
|
NM_014363.6(SACS):c.1990C>T (p.Leu664Phe)
|
|
|
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.2062G>A (p.Val688Ile)
|
|
|
NM_014363.6(SACS):c.2066T>C (p.Ile689Thr)
|
|
|
NM_014363.6(SACS):c.2096C>T (p.Ser699Phe)
|
rs374680967
|
|
NM_014363.6(SACS):c.2104C>T (p.Pro702Ser)
|
|
|
NM_014363.6(SACS):c.2180C>G (p.Thr727Ser)
|
|
|
NM_014363.6(SACS):c.2182C>G (p.Arg728Gly)
|
rs752059006
|
|
NM_014363.6(SACS):c.2223A>T (p.Glu741Asp)
|
|
|
NM_014363.6(SACS):c.2225G>A (p.Arg742Gln)
|
rs2137645971
|
|
NM_014363.6(SACS):c.2225G>C (p.Arg742Pro)
|
rs2137645971
|
|
NM_014363.6(SACS):c.2233_2235delinsTTC (p.Arg745Phe)
|
rs1869237949
|
|
NM_014363.6(SACS):c.2276A>G (p.Glu759Gly)
|
|
|
NM_014363.6(SACS):c.2312G>T (p.Arg771Ile)
|
rs2137645196
|
|
NM_014363.6(SACS):c.2322A>G (p.Pro774=)
|
rs1869225328
|
|
NM_014363.6(SACS):c.2374G>C (p.Glu792Gln)
|
|
|
NM_014363.6(SACS):c.2404C>T (p.Leu802Phe)
|
rs1869215579
|
|
NM_014363.6(SACS):c.2414G>C (p.Arg805Thr)
|
|
|
NM_014363.6(SACS):c.2428G>C (p.Glu810Gln)
|
|
|
NM_014363.6(SACS):c.2437A>G (p.Thr813Ala)
|
|
|
NM_014363.6(SACS):c.2465T>G (p.Ile822Ser)
|
|
|
NM_014363.6(SACS):c.247T>C (p.Leu83=)
|
rs1470292816
|
|
NM_014363.6(SACS):c.2488G>C (p.Asp830His)
|
|
|
NM_014363.6(SACS):c.2562A>T (p.Lys854Asn)
|
|
|
NM_014363.6(SACS):c.2572T>G (p.Ser858Ala)
|
|
|
NM_014363.6(SACS):c.2573C>T (p.Ser858Phe)
|
|
|
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.2726G>T (p.Ser909Ile)
|
rs2137641417
|
|
NM_014363.6(SACS):c.2801C>T (p.Ser934Phe)
|
|
|
NM_014363.6(SACS):c.2814T>C (p.Ile938=)
|
rs909826115
|
|
NM_014363.6(SACS):c.2845G>C (p.Val949Leu)
|
rs1869160064
|
|
NM_014363.6(SACS):c.2888C>G (p.Ser963Cys)
|
|
|
NM_014363.6(SACS):c.2894C>T (p.Ser965Leu)
|
|
|
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.2926_2927insAT (p.Arg976fs)
|
|
|
NM_014363.6(SACS):c.2940G>T (p.Met980Ile)
|
|
|
NM_014363.6(SACS):c.2996T>G (p.Ile999Ser)
|
|
|
NM_014363.6(SACS):c.2997T>A (p.Ile999=)
|
rs1869142388
|
|
NM_014363.6(SACS):c.3021_3023del (p.Glu1008del)
|
rs1555252742
|
|
NM_014363.6(SACS):c.3055A>G (p.Asn1019Asp)
|
rs1566071225
|
|
NM_014363.6(SACS):c.3070A>G (p.Lys1024Glu)
|
rs1869134973
|
|
NM_014363.6(SACS):c.3173T>C (p.Ile1058Thr)
|
rs764812936
|
|
NM_014363.6(SACS):c.3193T>C (p.Phe1065Leu)
|
|
|
NM_014363.6(SACS):c.3253C>T (p.His1085Tyr)
|
rs1869118837
|
|
NM_014363.6(SACS):c.328G>A (p.Gly110Arg)
|
|
|
NM_014363.6(SACS):c.328_330delinsAGT (p.Gly110Ser)
|
|
|
NM_014363.6(SACS):c.3292C>T (p.Leu1098Phe)
|
rs1593132851
|
|
NM_014363.6(SACS):c.3329T>C (p.Ile1110Thr)
|
rs1869108945
|
|
NM_014363.6(SACS):c.3346G>T (p.Gly1116Cys)
|
rs774044532
|
|
NM_014363.6(SACS):c.3369TCT[1] (p.Leu1125del)
|
rs1555252672
|
|
NM_014363.6(SACS):c.3370C>G (p.Leu1124Val)
|
rs2137636093
|
|
NM_014363.6(SACS):c.3370C>T (p.Leu1124Phe)
|
|
|
NM_014363.6(SACS):c.3413A>G (p.Asn1138Ser)
|
rs1202128043
|
|
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.3450A>G (p.Thr1150=)
|
rs2137635273
|
|
NM_014363.6(SACS):c.346-5G>A
|
rs80258644
|
|
NM_014363.6(SACS):c.3533G>C (p.Cys1178Ser)
|
|
|
NM_014363.6(SACS):c.3557T>C (p.Met1186Thr)
|
rs886050087
|
|
NM_014363.6(SACS):c.3615C>T (p.Ile1205=)
|
rs886050086
|
|
NM_014363.6(SACS):c.3641G>A (p.Gly1214Glu)
|
|
|
NM_014363.6(SACS):c.367G>T (p.Asp123Tyr)
|
|
|
NM_014363.6(SACS):c.3689TTG[2] (p.Val1232del)
|
|
|
NM_014363.6(SACS):c.3691G>C (p.Val1231Leu)
|
|
|
NM_014363.6(SACS):c.3700T>A (p.Trp1234Arg)
|
rs1192682879
|
|
NM_014363.6(SACS):c.3706_3707insACT (p.Tyr1235dup)
|
rs1555252563
|
|
NM_014363.6(SACS):c.370G>T (p.Ala124Ser)
|
|
|
NM_014363.6(SACS):c.3730G>C (p.Asp1244His)
|
|
|
NM_014363.6(SACS):c.3739C>A (p.Gln1247Lys)
|
rs1869063828
|
|
NM_014363.6(SACS):c.3769G>A (p.Gly1257Arg)
|
|
|
NM_014363.6(SACS):c.3774C>A (p.Phe1258Leu)
|
|
|
NM_014363.6(SACS):c.377C>G (p.Ala126Gly)
|
rs1476132092
|
|
NM_014363.6(SACS):c.3814G>A (p.Ala1272Thr)
|
|
|
NM_014363.6(SACS):c.3840T>A (p.Thr1280=)
|
rs1319754110
|
|
NM_014363.6(SACS):c.3853T>G (p.Cys1285Gly)
|
rs2137632086
|
|
NM_014363.6(SACS):c.3857C>T (p.Pro1286Leu)
|
|
|
NM_014363.6(SACS):c.3881C>T (p.Pro1294Leu)
|
rs1593132075
|
|
NM_014363.6(SACS):c.3883A>G (p.Ile1295Val)
|
|
|
NM_014363.6(SACS):c.3886C>G (p.His1296Asp)
|
|
|
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.3971T>C (p.Ile1324Thr)
|
|
|
NM_014363.6(SACS):c.3992A>G (p.His1331Arg)
|
rs1869039514
|
|
NM_014363.6(SACS):c.3994A>G (p.Ile1332Val)
|
|
|
NM_014363.6(SACS):c.4018T>C (p.Tyr1340His)
|
|
|
NM_014363.6(SACS):c.4036G>C (p.Asp1346His)
|
rs753529923
|
|
NM_014363.6(SACS):c.4106A>G (p.Asn1369Ser)
|
|
|
NM_014363.6(SACS):c.4114C>A (p.Pro1372Thr)
|
|
|
NM_014363.6(SACS):c.4114C>G (p.Pro1372Ala)
|
rs771277349
|
|
NM_014363.6(SACS):c.4139C>G (p.Pro1380Arg)
|
|
|
NM_014363.6(SACS):c.4162_4164del (p.Ser1388del)
|
rs755941308
|
|
NM_014363.6(SACS):c.4173_4175del (p.Ile1391del)
|
rs1555252463
|
|
NM_014363.6(SACS):c.4216G>A (p.Asp1406Asn)
|
|
|
NM_014363.6(SACS):c.4234C>T (p.Leu1412Phe)
|
rs961377840
|
|
NM_014363.6(SACS):c.4268A>G (p.His1423Arg)
|
rs2137629036
|
|
NM_014363.6(SACS):c.4276A>G (p.Ile1426Val)
|
|
|
NM_014363.6(SACS):c.4279C>A (p.Pro1427Thr)
|
rs527513599
|
|
NM_014363.6(SACS):c.4349G>T (p.Gly1450Val)
|
|
|
NM_014363.6(SACS):c.4430T>C (p.Ile1477Thr)
|
rs2137627792
|
|
NM_014363.6(SACS):c.4457A>T (p.Asp1486Val)
|
rs2137627584
|
|
NM_014363.6(SACS):c.4469C>G (p.Ala1490Gly)
|
rs886043557
|
|
NM_014363.6(SACS):c.4491_4494del (p.Ile1497_Asp1498insTer)
|
|
|
NM_014363.6(SACS):c.4496T>C (p.Met1499Thr)
|
|
|
NM_014363.6(SACS):c.4505A>T (p.Asn1502Ile)
|
rs1246233364
|
|
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.4587A>G (p.Gln1529=)
|
rs1868971659
|
|
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.4651G>A (p.Asp1551Asn)
|
|
|
NM_014363.6(SACS):c.470A>G (p.Tyr157Cys)
|
|
|
NM_014363.6(SACS):c.4723C>T (p.Arg1575Trp)
|
|
|
NM_014363.6(SACS):c.4747C>A (p.Pro1583Thr)
|
rs1566068552
|
|
NM_014363.6(SACS):c.4753A>G (p.Ile1585Val)
|
rs2137624716
|
|
NM_014363.6(SACS):c.477C>T (p.Tyr159=)
|
rs1870531490
|
|
NM_014363.6(SACS):c.4835G>C (p.Arg1612Thr)
|
|
|
NM_014363.6(SACS):c.4888C>G (p.Pro1630Ala)
|
|
|
NM_014363.6(SACS):c.4916A>G (p.Tyr1639Cys)
|
rs1566068293
|
|
NM_014363.6(SACS):c.4976T>G (p.Val1659Gly)
|
rs886050085
|
|
NM_014363.6(SACS):c.4986G>A (p.Thr1662=)
|
rs755523201
|
|
NM_014363.6(SACS):c.5006T>C (p.Ile1669Thr)
|
|
|
NM_014363.6(SACS):c.5012C>T (p.Ser1671Phe)
|
|
|
NM_014363.6(SACS):c.5035T>A (p.Cys1679Ser)
|
|
|
NM_014363.6(SACS):c.5043C>T (p.His1681=)
|
rs1868915593
|
|
NM_014363.6(SACS):c.5077A>G (p.Met1693Val)
|
|
|
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.5111_5113dup (p.Asn1704_Pro1705insHis)
|
rs1555252172
|
|
NM_014363.6(SACS):c.5141T>C (p.Ile1714Thr)
|
rs2137621295
|
|
NM_014363.6(SACS):c.5149_5151del (p.Lys1717del)
|
rs754439135
|
|
NM_014363.6(SACS):c.5162C>T (p.Ser1721Phe)
|
|
|
NM_014363.6(SACS):c.5188A>C (p.Ser1730Arg)
|
|
|
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.5309T>G (p.Val1770Gly)
|
|
|
NM_014363.6(SACS):c.5320A>T (p.Ile1774Phe)
|
|
|
NM_014363.6(SACS):c.5328T>A (p.Asp1776Glu)
|
|
|
NM_014363.6(SACS):c.5336C>T (p.Ser1779Leu)
|
|
|
NM_014363.6(SACS):c.5341C>T (p.Leu1781Phe)
|
|
|
NM_014363.6(SACS):c.5358TGA[1] (p.Asp1788del)
|
rs775922113
|
|
NM_014363.6(SACS):c.5385G>A (p.Met1795Ile)
|
rs2137619273
|
|
NM_014363.6(SACS):c.5450C>T (p.Thr1817Met)
|
rs898102157
|
|
NM_014363.6(SACS):c.5462G>A (p.Cys1821Tyr)
|
|
|
NM_014363.6(SACS):c.5468G>C (p.Cys1823Ser)
|
|
|
NM_014363.6(SACS):c.5468G>T (p.Cys1823Phe)
|
rs967386746
|
|
NM_014363.6(SACS):c.5470A>G (p.Met1824Val)
|
|
|
NM_014363.6(SACS):c.5498C>T (p.Ser1833Phe)
|
|
|
NM_014363.6(SACS):c.5585C>G (p.Thr1862Arg)
|
|
|
NM_014363.6(SACS):c.5591A>G (p.Lys1864Arg)
|
rs1868850876
|
|
NM_014363.6(SACS):c.559G>T (p.Val187Phe)
|
rs1344578174
|
|
NM_014363.6(SACS):c.5615G>C (p.Cys1872Ser)
|
|
|
NM_014363.6(SACS):c.5621T>C (p.Leu1874Ser)
|
rs1868847058
|
|
NM_014363.6(SACS):c.5622A>C (p.Leu1874Phe)
|
|
|
NM_014363.6(SACS):c.5639C>T (p.Thr1880Ile)
|
rs1555252070
|
|
NM_014363.6(SACS):c.5642G>C (p.Gly1881Ala)
|
|
|
NM_014363.6(SACS):c.5645T>G (p.Leu1882Trp)
|
|
|
NM_014363.6(SACS):c.5668T>C (p.Phe1890Leu)
|
|
|
NM_014363.6(SACS):c.5671G>C (p.Ala1891Pro)
|
rs1868843160
|
|
NM_014363.6(SACS):c.5674G>A (p.Val1892Ile)
|
rs2137616839
|
|
NM_014363.6(SACS):c.5678C>T (p.Thr1893Ile)
|
|
|
NM_014363.6(SACS):c.5684A>G (p.Asn1895Ser)
|
|
|
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.5747T>A (p.Val1916Asp)
|
|
|
NM_014363.6(SACS):c.5768A>C (p.Gln1923Pro)
|
rs1868830508
|
|
NM_014363.6(SACS):c.5770G>T (p.Val1924Leu)
|
rs1329947939
|
|
NM_014363.6(SACS):c.5785C>T (p.Arg1929Trp)
|
rs141019064
|
|
NM_014363.6(SACS):c.5786G>A (p.Arg1929Gln)
|
|
|
NM_014363.6(SACS):c.5849A>C (p.Asp1950Ala)
|
rs375962720
|
|
NM_014363.6(SACS):c.5855T>A (p.Val1952Asp)
|
rs2137615220
|
|
NM_014363.6(SACS):c.5858A>T (p.His1953Leu)
|
rs1428265468
|
|
NM_014363.6(SACS):c.5884G>C (p.Gly1962Arg)
|
|
|
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.5937_5939del (p.Ser1980del)
|
rs1555251980
|
|
NM_014363.6(SACS):c.5984A>T (p.Asp1995Val)
|
|
|
NM_014363.6(SACS):c.5998A>G (p.Lys2000Glu)
|
|
|
NM_014363.6(SACS):c.5999_6001del (p.Lys2000del)
|
rs1555251960
|
|
NM_014363.6(SACS):c.6007G>A (p.Asp2003Asn)
|
|
|
NM_014363.6(SACS):c.6008A>C (p.Asp2003Ala)
|
|
|
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.6019G>C (p.Ala2007Pro)
|
|
|
NM_014363.6(SACS):c.6044A>C (p.Tyr2015Ser)
|
rs1131691664
|
|
NM_014363.6(SACS):c.605-8C>T
|
rs2137729530
|
|
NM_014363.6(SACS):c.605A>G (p.Asp202Gly)
|
rs777554091
|
|
NM_014363.6(SACS):c.6062C>A (p.Ser2021Tyr)
|
rs2137613081
|
|
NM_014363.6(SACS):c.6070C>G (p.Leu2024Val)
|
rs758895050
|
|
NM_014363.6(SACS):c.6119C>G (p.Ala2040Gly)
|
rs1234193312
|
|
NM_014363.6(SACS):c.6125G>A (p.Cys2042Tyr)
|
rs2137612456
|
|
NM_014363.6(SACS):c.6139C>A (p.Leu2047Ile)
|
|
|
NM_014363.6(SACS):c.6149C>G (p.Thr2050Arg)
|
|
|
NM_014363.6(SACS):c.614G>T (p.Cys205Phe)
|
rs2137729432
|
|
NM_014363.6(SACS):c.6179T>C (p.Val2060Ala)
|
|
|
NM_014363.6(SACS):c.6202A>G (p.Ile2068Val)
|
|
|
NM_014363.6(SACS):c.6231_6233del (p.Met2077del)
|
rs1555251880
|
|
NM_014363.6(SACS):c.6281T>A (p.Val2094Asp)
|
|
|
NM_014363.6(SACS):c.6343C>T (p.His2115Tyr)
|
rs757161092
|
|
NM_014363.6(SACS):c.6362C>T (p.Ala2121Val)
|
|
|
NM_014363.6(SACS):c.6377T>C (p.Ile2126Thr)
|
rs373982540
|
|
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.6436A>G (p.Ile2146Val)
|
rs1415663565
|
|
NM_014363.6(SACS):c.6451T>G (p.Leu2151Val)
|
rs886050084
|
|
NM_014363.6(SACS):c.6455G>A (p.Gly2152Asp)
|
|
|
NM_014363.6(SACS):c.6460G>T (p.Ala2154Ser)
|
rs146031135
|
|
NM_014363.6(SACS):c.6466GAT[1] (p.Asp2157del)
|
rs1204242892
|
|
NM_014363.6(SACS):c.6469G>A (p.Asp2157Asn)
|
|
|
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.653A>T (p.His218Leu)
|
|
|
NM_014363.6(SACS):c.6565T>G (p.Leu2189Val)
|
rs771923767
|
|
NM_014363.6(SACS):c.6592_6593insAAAAAAAAA (p.Lys2197_Ile2198insLysLysLys)
|
rs1555251719
|
|
NM_014363.6(SACS):c.6632A>G (p.Gln2211Arg)
|
rs1044714793
|
|
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala)
|
rs556248979
|
|
NM_014363.6(SACS):c.6641G>T (p.Arg2214Leu)
|
|
|
NM_014363.6(SACS):c.6643T>C (p.Phe2215Leu)
|
rs886050083
|
|
NM_014363.6(SACS):c.6665CAG[1] (p.Ala2223del)
|
rs1555251695
|
|
NM_014363.6(SACS):c.6679T>A (p.Leu2227Met)
|
rs1868697576
|
|
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.6739A>G (p.Thr2247Ala)
|
rs1272133291
|
|
NM_014363.6(SACS):c.6740C>G (p.Thr2247Arg)
|
rs1190128123
|
|
NM_014363.6(SACS):c.674A>G (p.His225Arg)
|
|
|
NM_014363.6(SACS):c.6751C>A (p.Gln2251Lys)
|
rs747293426
|
|
NM_014363.6(SACS):c.6754G>T (p.Asp2252Tyr)
|
rs886050082
|
|
NM_014363.6(SACS):c.675T>G (p.His225Gln)
|
rs2137729069
|
|
NM_014363.6(SACS):c.6800_6802del (p.Ser2267del)
|
rs1555251650
|
|
NM_014363.6(SACS):c.6822_6833del (p.Ser2275_Val2278del)
|
|
|
NM_014363.6(SACS):c.6844T>C (p.Leu2282=)
|
rs1868678889
|
|
NM_014363.6(SACS):c.6856AAG[1] (p.Lys2287del)
|
rs1555251633
|
|
NM_014363.6(SACS):c.6859A>C (p.Lys2287Gln)
|
rs1397588851
|
|
NM_014363.6(SACS):c.6871G>C (p.Asp2291His)
|
rs1170939021
|
|
NM_014363.6(SACS):c.6877G>C (p.Val2293Leu)
|
|
|
NM_014363.6(SACS):c.6897A>C (p.Glu2299Asp)
|
|
|
NM_014363.6(SACS):c.6932A>G (p.Tyr2311Cys)
|
rs1566065185
|
|
NM_014363.6(SACS):c.6941A>C (p.Asn2314Thr)
|
rs1868664491
|
|
NM_014363.6(SACS):c.6978C>G (p.Ala2326=)
|
rs2137604768
|
|
NM_014363.6(SACS):c.703G>T (p.Asp235Tyr)
|
|
|
NM_014363.6(SACS):c.7052A>G (p.Asn2351Ser)
|
|
|
NM_014363.6(SACS):c.7079C>A (p.Ser2360Tyr)
|
|
|
NM_014363.6(SACS):c.7079_7081del (p.Ser2360del)
|
rs1555251573
|
|
NM_014363.6(SACS):c.7163C>T (p.Thr2388Ile)
|
|
|
NM_014363.6(SACS):c.7169G>A (p.Gly2390Asp)
|
rs1868637796
|
|
NM_014363.6(SACS):c.7207G>A (p.Val2403Ile)
|
|
|
NM_014363.6(SACS):c.7210T>G (p.Leu2404Val)
|
rs1593127760
|
|
NM_014363.6(SACS):c.7216T>C (p.Ser2406Pro)
|
rs2137602722
|
|
NM_014363.6(SACS):c.7222G>A (p.Asp2408Asn)
|
|
|
NM_014363.6(SACS):c.7223A>G (p.Asp2408Gly)
|
|
|
NM_014363.6(SACS):c.7277G>A (p.Arg2426Gln)
|
|
|
NM_014363.6(SACS):c.7306A>G (p.Ile2436Val)
|
rs567650774
|
|
NM_014363.6(SACS):c.7319A>G (p.Lys2440Arg)
|
|
|
NM_014363.6(SACS):c.734A>T (p.Asp245Val)
|
|
|
NM_014363.6(SACS):c.7367C>T (p.Thr2456Ile)
|
|
|
NM_014363.6(SACS):c.736C>G (p.Gln246Glu)
|
rs886050089
|
|
NM_014363.6(SACS):c.7448A>G (p.Tyr2483Cys)
|
rs2137600321
|
|
NM_014363.6(SACS):c.7448_7456del (p.Tyr2483_Ala2486delinsSer)
|
rs1555251416
|
|
NM_014363.6(SACS):c.744A>G (p.Ala248=)
|
rs1448438600
|
|
NM_014363.6(SACS):c.745C>T (p.Pro249Ser)
|
|
|
NM_014363.6(SACS):c.7464A>G (p.Ile2488Met)
|
rs1593127405
|
|
NM_014363.6(SACS):c.7466C>G (p.Pro2489Arg)
|
|
|
NM_014363.6(SACS):c.751G>A (p.Val251Ile)
|
rs776176699
|
|
NM_014363.6(SACS):c.7520A>G (p.Glu2507Gly)
|
|
|
NM_014363.6(SACS):c.7535A>G (p.Asn2512Ser)
|
rs777424692
|
|
NM_014363.6(SACS):c.7539_7540del (p.Cys2514fs)
|
rs1467848128
|
|
NM_014363.6(SACS):c.7546A>G (p.Thr2516Ala)
|
rs2137599256
|
|
NM_014363.6(SACS):c.7583T>G (p.Leu2528Trp)
|
rs2137599038
|
|
NM_014363.6(SACS):c.7585A>G (p.Thr2529Ala)
|
|
|
NM_014363.6(SACS):c.7586C>A (p.Thr2529Asn)
|
rs1320224325
|
|
NM_014363.6(SACS):c.7601G>A (p.Ser2534Asn)
|
rs750491874
|
|
NM_014363.6(SACS):c.7644G>C (p.Glu2548Asp)
|
rs1868579030
|
|
NM_014363.6(SACS):c.7697A>G (p.Asp2566Gly)
|
rs1868573738
|
|
NM_014363.6(SACS):c.7713A>T (p.Pro2571=)
|
rs557113294
|
|
NM_014363.6(SACS):c.7724T>C (p.Ile2575Thr)
|
|
|
NM_014363.6(SACS):c.7724T>G (p.Ile2575Arg)
|
rs2137597923
|
|
NM_014363.6(SACS):c.7763T>A (p.Leu2588His)
|
rs1555251328
|
|
NM_014363.6(SACS):c.7763T>C (p.Leu2588Pro)
|
rs1555251328
|
|
NM_014363.6(SACS):c.7794A>T (p.Glu2598Asp)
|
rs1490465452
|
|
NM_014363.6(SACS):c.7795G>C (p.Asp2599His)
|
rs1868563918
|
|
NM_014363.6(SACS):c.7796ATG[1] (p.Asp2600del)
|
rs1555251315
|
|
NM_014363.6(SACS):c.7816A>C (p.Asn2606His)
|
|
|
NM_014363.6(SACS):c.7831A>G (p.Thr2611Ala)
|
|
|
NM_014363.6(SACS):c.7857T>C (p.Thr2619=)
|
rs886050081
|
|
NM_014363.6(SACS):c.7898C>T (p.Thr2633Ile)
|
rs1555251295
|
|
NM_014363.6(SACS):c.7915_7920del (p.Ile2639_Ser2640del)
|
rs1555251289
|
|
NM_014363.6(SACS):c.7940T>A (p.Ile2647Asn)
|
rs934642310
|
|
NM_014363.6(SACS):c.7955C>T (p.Ala2652Val)
|
|
|
NM_014363.6(SACS):c.7990G>A (p.Gly2664Arg)
|
rs2137595708
|
|
NM_014363.6(SACS):c.7993C>T (p.Arg2665Cys)
|
|
|
NM_014363.6(SACS):c.7996A>C (p.Met2666Leu)
|
|
|
NM_014363.6(SACS):c.8006A>G (p.Asp2669Gly)
|
|
|
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.8026A>G (p.Thr2676Ala)
|
|
|
NM_014363.6(SACS):c.8027C>G (p.Thr2676Arg)
|
|
|
NM_014363.6(SACS):c.8053T>C (p.Tyr2685His)
|
|
|
NM_014363.6(SACS):c.8056C>T (p.Leu2686=)
|
rs748595405
|
|
NM_014363.6(SACS):c.8063C>A (p.Thr2688Asn)
|
|
|
NM_014363.6(SACS):c.8080A>T (p.Asn2694Tyr)
|
rs1390533003
|
|
NM_014363.6(SACS):c.8161A>G (p.Arg2721Gly)
|
rs1868522362
|
|
NM_014363.6(SACS):c.8222T>C (p.Leu2741Pro)
|
|
|
NM_014363.6(SACS):c.8232G>A (p.Met2744Ile)
|
|
|
NM_014363.6(SACS):c.8238A>C (p.Lys2746Asn)
|
rs1029961212
|
|
NM_014363.6(SACS):c.8269G>A (p.Gly2757Arg)
|
rs1085307756
|
|
NM_014363.6(SACS):c.827G>A (p.Arg276His)
|
|
|
NM_014363.6(SACS):c.8288A>G (p.Tyr2763Cys)
|
|
|
NM_014363.6(SACS):c.8300G>A (p.Gly2767Asp)
|
|
|
NM_014363.6(SACS):c.8330G>A (p.Arg2777Lys)
|
rs1868501054
|
|
NM_014363.6(SACS):c.8341C>G (p.His2781Asp)
|
rs886050080
|
|
NM_014363.6(SACS):c.8362G>A (p.Val2788Ile)
|
|
|
NM_014363.6(SACS):c.8374A>T (p.Arg2792Trp)
|
|
|
NM_014363.6(SACS):c.8384A>G (p.Lys2795Arg)
|
|
|
NM_014363.6(SACS):c.8388_8402del (p.Asp2796_Gln2801delinsGlu)
|
rs1593126382
|
|
NM_014363.6(SACS):c.8395G>C (p.Val2799Leu)
|
|
|
NM_014363.6(SACS):c.8426A>C (p.Glu2809Ala)
|
|
|
NM_014363.6(SACS):c.8454G>T (p.Trp2818Cys)
|
|
|
NM_014363.6(SACS):c.847A>G (p.Ser283Gly)
|
|
|
NM_014363.6(SACS):c.848GTA[1] (p.Ser284del)
|
rs1555254436
|
|
NM_014363.6(SACS):c.8495T>C (p.Val2832Ala)
|
rs1593126225
|
|
NM_014363.6(SACS):c.8512_8514del (p.Ser2838del)
|
rs1555251001
|
|
NM_014363.6(SACS):c.8575C>G (p.His2859Asp)
|
|
|
NM_014363.6(SACS):c.8596A>G (p.Arg2866Gly)
|
rs1868466055
|
|
NM_014363.6(SACS):c.862_863delinsTC (p.Asn288Ser)
|
rs1555254433
|
|
NM_014363.6(SACS):c.8641T>G (p.Phe2881Val)
|
|
|
NM_014363.6(SACS):c.8647G>A (p.Val2883Met)
|
|
|
NM_014363.6(SACS):c.8692C>T (p.Arg2898Cys)
|
|
|
NM_014363.6(SACS):c.8702A>G (p.Asn2901Ser)
|
|
|
NM_014363.6(SACS):c.8729A>G (p.Asn2910Ser)
|
rs2137589975
|
|
NM_014363.6(SACS):c.8755G>T (p.Ala2919Ser)
|
rs886050079
|
|
NM_014363.6(SACS):c.8768T>C (p.Val2923Ala)
|
rs1566062448
|
|
NM_014363.6(SACS):c.877C>A (p.Leu293Ile)
|
|
|
NM_014363.6(SACS):c.8794C>T (p.Arg2932Trp)
|
rs370913893
|
|
NM_014363.6(SACS):c.8795G>A (p.Arg2932Gln)
|
|
|
NM_014363.6(SACS):c.8802C>T (p.Phe2934=)
|
rs1868452276
|
|
NM_014363.6(SACS):c.8803C>T (p.Pro2935Ser)
|
|
|
NM_014363.6(SACS):c.8819C>T (p.Thr2940Ile)
|
|
|
NM_014363.6(SACS):c.8842C>T (p.Pro2948Ser)
|
|
|
NM_014363.6(SACS):c.8853T>G (p.Val2951=)
|
rs9552929
|
|
NM_014363.6(SACS):c.8858A>C (p.Lys2953Thr)
|
rs1868444121
|
|
NM_014363.6(SACS):c.8861A>G (p.Asp2954Gly)
|
|
|
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.9052T>C (p.Ser3018Pro)
|
|
|
NM_014363.6(SACS):c.9055A>G (p.Thr3019Ala)
|
rs2137587151
|
|
NM_014363.6(SACS):c.9076T>A (p.Phe3026Ile)
|
|
|
NM_014363.6(SACS):c.9103T>G (p.Leu3035Val)
|
|
|
NM_014363.6(SACS):c.9108A>C (p.Gln3036His)
|
|
|
NM_014363.6(SACS):c.9122C>A (p.Ala3041Glu)
|
|
|
NM_014363.6(SACS):c.9143G>A (p.Arg3048His)
|
rs553929593
|
|
NM_014363.6(SACS):c.9163G>A (p.Val3055Ile)
|
|
|
NM_014363.6(SACS):c.9245G>A (p.Cys3082Tyr)
|
|
|
NM_014363.6(SACS):c.9259G>A (p.Asp3087Asn)
|
rs2137585503
|
|
NM_014363.6(SACS):c.9286G>A (p.Ala3096Thr)
|
rs1085307569
|
|
NM_014363.6(SACS):c.9328A>G (p.Thr3110Ala)
|
rs1883705967
|
|
NM_014363.6(SACS):c.9346_9354dup (p.Lys3116_Pro3118dup)
|
rs2137584629
|
|
NM_014363.6(SACS):c.9353C>T (p.Pro3118Leu)
|
|
|
NM_014363.6(SACS):c.9356GTC[1] (p.Arg3120del)
|
rs1388341388
|
|
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.9482G>A (p.Ser3161Asn)
|
|
|
NM_014363.6(SACS):c.9515A>G (p.Lys3172Arg)
|
|
|
NM_014363.6(SACS):c.9519T>G (p.Phe3173Leu)
|
rs780746393
|
|
NM_014363.6(SACS):c.9523ACA[1] (p.Thr3176del)
|
rs1161557781
|
|
NM_014363.6(SACS):c.9572C>T (p.Thr3191Ile)
|
rs1883687760
|
|
NM_014363.6(SACS):c.9603G>C (p.Leu3201Phe)
|
|
|
NM_014363.6(SACS):c.9605A>C (p.Asn3202Thr)
|
|
|
NM_014363.6(SACS):c.9608G>A (p.Cys3203Tyr)
|
|
|
NM_014363.6(SACS):c.9635C>T (p.Ser3212Phe)
|
|
|
NM_014363.6(SACS):c.9671G>C (p.Arg3224Pro)
|
rs763546908
|
|
NM_014363.6(SACS):c.9692G>T (p.Cys3231Phe)
|
|
|
NM_014363.6(SACS):c.972C>A (p.Asp324Glu)
|
rs546652936
|
|
NM_014363.6(SACS):c.974G>A (p.Gly325Glu)
|
|
|
NM_014363.6(SACS):c.9754A>G (p.Ser3252Gly)
|
rs1593124621
|
|
NM_014363.6(SACS):c.9774AGA[1] (p.Glu3259del)
|
rs768958169
|
|
NM_014363.6(SACS):c.9779A>G (p.Asp3260Gly)
|
rs1883670937
|
|
NM_014363.6(SACS):c.9808_9810del (p.Ile3270del)
|
|
|
NM_014363.6(SACS):c.980A>C (p.Glu327Ala)
|
|
|
NM_014363.6(SACS):c.9821C>G (p.Thr3274Ser)
|
|
|
NM_014363.6(SACS):c.9844C>A (p.Pro3282Thr)
|
rs2137580315
|
|
NM_014363.6(SACS):c.9893_9895del (p.Gly3298del)
|
rs1293576848
|
|
NM_014363.6(SACS):c.9896A>C (p.Asp3299Ala)
|
|
|
NM_014363.6(SACS):c.9898_9900del (p.Val3300del)
|
rs762506287
|
|
NM_014363.6(SACS):c.9905T>C (p.Leu3302Pro)
|
rs2137579752
|
|
NM_014363.6(SACS):c.9912C>T (p.Leu3304=)
|
rs1593124372
|
|
NM_014363.6(SACS):c.9949A>G (p.Ser3317Gly)
|
rs769422067
|
|
NM_014363.6(SACS):c.9955A>G (p.Lys3319Glu)
|
rs1566060408
|
|
NM_014363.6(SACS):c.9970C>G (p.Leu3324Val)
|
|
|