ClinVar Miner

List of variants in gene SACS reported as uncertain significance for Charlevoix-Saguenay spastic ataxia

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Gene type:
ClinVar version:
Total variants: 604
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HGVS dbSNP gnomAD frequency
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.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.-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.8972G>A (p.Arg2991His) rs192610957 0.00084
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr) rs149638449 0.00071
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.10443C>G (p.Leu3481=) rs144087359 0.00047
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys) rs143433500 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.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.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.1219C>A (p.Leu407Ile) rs201569239 0.00013
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val) rs186436335 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.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.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.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.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.13106A>G (p.Asp4369Gly) rs770895110 0.00006
NM_014363.6(SACS):c.2024A>G (p.Asn675Ser) rs146395198 0.00006
NM_014363.6(SACS):c.2487C>T (p.Asp829=) rs151198216 0.00006
NM_014363.6(SACS):c.2551G>T (p.Val851Phe) rs756890722 0.00006
NM_014363.6(SACS):c.2776A>G (p.Ile926Val) rs144362131 0.00006
NM_014363.6(SACS):c.2788A>G (p.Ile930Val) rs886050088 0.00006
NM_014363.6(SACS):c.3768C>T (p.Tyr1256=) rs200350631 0.00006
NM_014363.6(SACS):c.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.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.11884A>T (p.Ile3962Leu) rs746953932 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.11161G>A (p.Gly3721Ser) rs780789569 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.1259T>C (p.Ile420Thr) rs761791412 0.00004
NM_014363.6(SACS):c.1297G>C (p.Ala433Pro) rs770677319 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.2597A>G (p.Lys866Arg) rs761960824 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.6030G>T (p.Lys2010Asn) rs769751841 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.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.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.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.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.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.5222C>T (p.Thr1741Ile) rs201724656 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.7454A>T (p.His2485Leu) rs1420170258 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.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.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.11207T>C (p.Met3736Thr) rs759433888 0.00001
NM_014363.6(SACS):c.11409G>T (p.Trp3803Cys) rs886050075 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.12059A>G (p.Lys4020Arg) rs1328721442 0.00001
NM_014363.6(SACS):c.12075T>G (p.Asn4025Lys) rs778310483 0.00001
NM_014363.6(SACS):c.12500C>T (p.Thr4167Ile) rs764098635 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.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.1607C>T (p.Pro536Leu) rs1440541889 0.00001
NM_014363.6(SACS):c.1728C>T (p.Tyr576=) rs750748828 0.00001
NM_014363.6(SACS):c.1762A>G (p.Lys588Glu) rs376186273 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.2023A>T (p.Asn675Tyr) rs374667929 0.00001
NM_014363.6(SACS):c.2110C>A (p.Leu704Ile) rs767844042 0.00001
NM_014363.6(SACS):c.2451C>T (p.Leu817=) rs756595744 0.00001
NM_014363.6(SACS):c.2488G>A (p.Asp830Asn) rs571646732 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.3017A>G (p.His1006Arg) rs368149368 0.00001
NM_014363.6(SACS):c.3242C>T (p.Pro1081Leu) rs377493083 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.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.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.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.623G>T (p.Ser208Ile) rs911764681 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.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.7742C>T (p.Ala2581Val) rs866333277 0.00001
NM_014363.6(SACS):c.7817A>G (p.Asn2606Ser) rs1191066514 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.8108G>A (p.Arg2703His) rs750181262 0.00001
NM_014363.6(SACS):c.8132C>T (p.Ser2711Leu) rs1213203489 0.00001
NM_014363.6(SACS):c.8141C>T (p.Ser2714Leu) rs762610527 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.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.9173T>G (p.Leu3058Arg) rs758654165 0.00001
NM_014363.6(SACS):c.9232A>G (p.Asn3078Asp) rs755698899 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.*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.10064T>G (p.Ile3355Arg) rs372488932
NM_014363.6(SACS):c.10126G>A (p.Ala3376Thr)
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.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.10534G>C (p.Glu3512Gln) rs1883614344
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>G (p.Ile356Val) rs148286091
NM_014363.6(SACS):c.10705C>T (p.Leu3569Phe) rs1883603870
NM_014363.6(SACS):c.10716C>G (p.Pro3572=) rs886050077
NM_014363.6(SACS):c.10755_10757del (p.Phe3585del) rs771277098
NM_014363.6(SACS):c.10780A>T (p.Ile3594Leu) rs994425261
NM_014363.6(SACS):c.10901A>C (p.Gln3634Pro) rs150900362
NM_014363.6(SACS):c.10913A>G (p.Asp3638Gly)
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.11215G>A (p.Val3739Ile) rs1027336196
NM_014363.6(SACS):c.11291A>C (p.Glu3764Ala) rs1593122374
NM_014363.6(SACS):c.11432T>C (p.Val3811Ala) rs2137566609
NM_014363.6(SACS):c.11539ATT[1] (p.Ile3848del) rs2137565671
NM_014363.6(SACS):c.11679_11681delinsTAG (p.Lys3894Arg)
NM_014363.6(SACS):c.1173T>C (p.Ser391=) rs150683286
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.11927G>A (p.Ser3976Asn) rs1883504909
NM_014363.6(SACS):c.11965G>T (p.Val3989Phe)
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.12035T>C (p.Ile4012Thr) rs1883497856
NM_014363.6(SACS):c.12063T>C (p.His4021=) rs886050074
NM_014363.6(SACS):c.12232C>A (p.Arg4078=) rs141315518
NM_014363.6(SACS):c.12416T>C (p.Leu4139Ser)
NM_014363.6(SACS):c.1252C>G (p.Pro418Ala)
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.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.12884C>T (p.Pro4295Leu) rs781029021
NM_014363.6(SACS):c.12905C>A (p.Ser4302Tyr) rs778808568
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.13225A>G (p.Lys4409Glu) rs775817492
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.13393del (p.Leu4465fs) rs1555249211
NM_014363.6(SACS):c.13409A>G (p.Asn4470Ser) rs757326594
NM_014363.6(SACS):c.13454T>C (p.Leu4485Ser) rs1566054340
NM_014363.6(SACS):c.13512A>G (p.Ala4504=) rs886050070
NM_014363.6(SACS):c.13540C>T (p.Gln4514Ter) rs1555249133
NM_014363.6(SACS):c.13561_13562del (p.Thr4520_Asn4521insTer)
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.13614C>G (p.Tyr4538Ter) rs927804920
NM_014363.6(SACS):c.13645A>G (p.Asn4549Asp) rs1178912631
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.1420C>T (p.Arg474Cys) rs746704660
NM_014363.6(SACS):c.1435_1436insTTT (p.Lys478_Trp479insPhe) rs1555254306
NM_014363.6(SACS):c.1498G>A (p.Val500Ile) rs1244967438
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.1799A>G (p.Gln600Arg) rs1348513054
NM_014363.6(SACS):c.1990C>T (p.Leu664Phe)
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.2182C>G (p.Arg728Gly) rs752059006
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.2322A>G (p.Pro774=) rs1869225328
NM_014363.6(SACS):c.247T>C (p.Leu83=) rs1470292816
NM_014363.6(SACS):c.2508del (p.Pro837fs)
NM_014363.6(SACS):c.2599T>C (p.Tyr867His) rs774682589
NM_014363.6(SACS):c.260G>A (p.Gly87Asp)
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.2775A>G (p.Ala925=)
NM_014363.6(SACS):c.2888C>G (p.Ser963Cys)
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.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.3369TCT[1] (p.Leu1125del) rs1555252672
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.3429A>G (p.Gln1143=) rs1869096503
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.3700T>A (p.Trp1234Arg) rs1192682879
NM_014363.6(SACS):c.3706_3707insACT (p.Tyr1235dup) rs1555252563
NM_014363.6(SACS):c.3782A>G (p.Asp1261Gly)
NM_014363.6(SACS):c.3915T>C (p.His1305=) rs767598017
NM_014363.6(SACS):c.3992A>G (p.His1331Arg) rs1869039514
NM_014363.6(SACS):c.4018T>C (p.Tyr1340His)
NM_014363.6(SACS):c.4076T>G (p.Met1359Arg)
NM_014363.6(SACS):c.4106A>G (p.Asn1369Ser)
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.4192T>C (p.Cys1398Arg)
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.4430T>C (p.Ile1477Thr) rs2137627792
NM_014363.6(SACS):c.4522A>C (p.Asn1508His) rs144653411
NM_014363.6(SACS):c.4606G>T (p.Val1536Leu) rs764832688
NM_014363.6(SACS):c.470A>G (p.Tyr157Cys)
NM_014363.6(SACS):c.4723C>T (p.Arg1575Trp)
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.5043C>T (p.His1681=) rs1868915593
NM_014363.6(SACS):c.5079G>A (p.Met1693Ile) rs775069857
NM_014363.6(SACS):c.5111_5113dup (p.Asn1704_Pro1705insHis) rs1555252172
NM_014363.6(SACS):c.5149_5151del (p.Lys1717del) rs754439135
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.5358TGA[1] (p.Asp1788del) rs775922113
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.5621T>C (p.Leu1874Ser) rs1868847058
NM_014363.6(SACS):c.5639C>T (p.Thr1880Ile) rs1555252070
NM_014363.6(SACS):c.5645T>G (p.Leu1882Trp)
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.5770G>T (p.Val1924Leu) rs1329947939
NM_014363.6(SACS):c.5785C>T (p.Arg1929Trp) rs141019064
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.5937_5939del (p.Ser1980del) rs1555251980
NM_014363.6(SACS):c.5999_6001del (p.Lys2000del) rs1555251960
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val) rs537408260
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.6231_6233del (p.Met2077del) rs1555251880
NM_014363.6(SACS):c.6343C>T (p.His2115Tyr) rs757161092
NM_014363.6(SACS):c.637G>A (p.Gly213Arg)
NM_014363.6(SACS):c.6406A>T (p.Thr2136Ser) rs1566066009
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.6466GAT[1] (p.Asp2157del) rs1204242892
NM_014363.6(SACS):c.6554GTA[1] (p.Ser2186del)
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.6643T>C (p.Phe2215Leu) rs886050083
NM_014363.6(SACS):c.6665CAG[1] (p.Ala2223del) rs1555251695
NM_014363.6(SACS):c.6702T>A (p.Phe2234Leu) rs774487714
NM_014363.6(SACS):c.6740C>G (p.Thr2247Arg) rs1190128123
NM_014363.6(SACS):c.6754G>T (p.Asp2252Tyr) rs886050082
NM_014363.6(SACS):c.6800_6802del (p.Ser2267del) rs1555251650
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.6941A>C (p.Asn2314Thr) rs1868664491
NM_014363.6(SACS):c.7079_7081del (p.Ser2360del) rs1555251573
NM_014363.6(SACS):c.7169G>A (p.Gly2390Asp) rs1868637796
NM_014363.6(SACS):c.7222G>A (p.Asp2408Asn)
NM_014363.6(SACS):c.7277G>C (p.Arg2426Pro)
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.7489G>A (p.Gly2497Arg)
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.7583T>G (p.Leu2528Trp) rs2137599038
NM_014363.6(SACS):c.7601G>A (p.Ser2534Asn) rs750491874
NM_014363.6(SACS):c.7665T>G (p.Asp2555Glu)
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.7795G>C (p.Asp2599His) rs1868563918
NM_014363.6(SACS):c.7796ATG[1] (p.Asp2600del) rs1555251315
NM_014363.6(SACS):c.7857T>C (p.Thr2619=) rs886050081
NM_014363.6(SACS):c.7900G>A (p.Asp2634Asn)
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.8022T>C (p.Phe2674=) rs34928783
NM_014363.6(SACS):c.8022T>G (p.Phe2674Leu) rs34928783
NM_014363.6(SACS):c.8056C>T (p.Leu2686=) rs748595405
NM_014363.6(SACS):c.827G>A (p.Arg276His)
NM_014363.6(SACS):c.8341C>G (p.His2781Asp) rs886050080
NM_014363.6(SACS):c.848GTA[1] (p.Ser284del) rs1555254436
NM_014363.6(SACS):c.8512_8514del (p.Ser2838del) rs1555251001
NM_014363.6(SACS):c.8596A>G (p.Arg2866Gly) rs1868466055
NM_014363.6(SACS):c.8647G>A (p.Val2883Met)
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.8802C>T (p.Phe2934=) rs1868452276
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.9055A>G (p.Thr3019Ala) rs2137587151
NM_014363.6(SACS):c.9108A>C (p.Gln3036His)
NM_014363.6(SACS):c.9286G>A (p.Ala3096Thr) rs1085307569
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.9523ACA[1] (p.Thr3176del) rs1161557781
NM_014363.6(SACS):c.9572C>T (p.Thr3191Ile) rs1883687760
NM_014363.6(SACS):c.972C>A (p.Asp324Glu) rs546652936
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.9893_9895del (p.Gly3298del) rs1293576848
NM_014363.6(SACS):c.9898_9900del (p.Val3300del) rs762506287
NM_014363.6(SACS):c.9912C>T (p.Leu3304=) rs1593124372

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