ClinVar Miner

List of variants in gene SACS studied for Spastic paraplegia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3183
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.10338G>A (p.Gln3446=) rs2737701 0.98600
NM_014363.6(SACS):c.9981T>C (p.Ala3327=) rs2737700 0.36123
NM_014363.6(SACS):c.6195T>C (p.Ile2065=) rs4143768 0.21785
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929 0.21755
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala) rs17078605 0.21747
NM_014363.6(SACS):c.12304T>C (p.Leu4102=) rs2737699 0.21736
NM_014363.6(SACS):c.696T>A (p.Asn232Lys) rs2031640 0.08558
NM_014363.6(SACS):c.1656A>G (p.Leu552=) rs1536365 0.08543
NM_014363.6(SACS):c.909A>G (p.Ala303=) rs41315020 0.03313
NM_014363.6(SACS):c.1839G>A (p.Gln613=) rs35840595 0.02863
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr) rs17325713 0.02528
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala) rs17078601 0.02418
NM_014363.6(SACS):c.7149C>T (p.Arg2383=) rs17078608 0.01409
NM_014363.6(SACS):c.10305T>C (p.Ser3435=) rs35670472 0.00986
NM_014363.6(SACS):c.12762C>T (p.Ser4254=) rs11554397 0.00978
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469 0.00804
NM_014363.6(SACS):c.8345C>T (p.Ala2782Val) rs61742500 0.00776
NM_014363.6(SACS):c.8344G>A (p.Ala2782Thr) rs61742502 0.00775
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro) rs61326562 0.00706
NM_014363.6(SACS):c.6069C>T (p.Asn2023=) rs35369023 0.00706
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val) rs61548169 0.00705
NM_014363.6(SACS):c.5502G>C (p.Leu1834=) rs34389000 0.00705
NM_014363.6(SACS):c.8127A>C (p.Lys2709Asn) rs78827970 0.00691
NM_014363.6(SACS):c.4188C>T (p.His1396=) rs61754477 0.00688
NM_014363.6(SACS):c.6267G>A (p.Ser2089=) rs9550956 0.00688
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn) rs35865691 0.00562
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met) rs35256065 0.00558
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser) rs78239814 0.00525
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_014363.6(SACS):c.1593C>T (p.Ile531=) rs113756713 0.00513
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795 0.00506
NM_014363.6(SACS):c.12597A>G (p.Pro4199=) rs112630127 0.00451
NM_014363.6(SACS):c.11688G>A (p.Arg3896=) rs116791509 0.00448
NM_014363.6(SACS):c.10821C>A (p.Ile3607=) rs113595574 0.00447
NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser) rs80132141 0.00343
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787 0.00332
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361 0.00292
NM_014363.6(SACS):c.9846A>G (p.Pro3282=) rs61753111 0.00281
NM_014363.6(SACS):c.5307T>C (p.His1769=) rs145747008 0.00264
NM_014363.6(SACS):c.2721G>A (p.Leu907=) rs140118958 0.00255
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939 0.00236
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00227
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856 0.00198
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_014363.6(SACS):c.7737G>A (p.Lys2579=) rs139279302 0.00192
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_014363.6(SACS):c.2988A>G (p.Leu996=) rs111846884 0.00170
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg) rs147317123 0.00168
NM_014363.6(SACS):c.810T>G (p.Phe270Leu) rs116907814 0.00149
NM_014363.6(SACS):c.2983G>T (p.Val995Phe) rs142967124 0.00134
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr) rs111920492 0.00131
NM_014363.6(SACS):c.2185+16A>G rs368628225 0.00113
NM_014363.6(SACS):c.13374C>T (p.Phe4458=) rs148914536 0.00111
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=) rs140034972 0.00109
NM_014363.6(SACS):c.4015A>C (p.Ile1339Leu) rs143144795 0.00099
NM_014363.6(SACS):c.9852A>G (p.Thr3284=) rs147506904 0.00099
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile) rs150981983 0.00097
NM_014363.6(SACS):c.1378C>T (p.Leu460Phe) rs145213666 0.00091
NM_014363.6(SACS):c.12813T>G (p.Pro4271=) rs146376949 0.00087
NM_014363.6(SACS):c.1917A>G (p.Ala639=) rs138457742 0.00084
NM_014363.6(SACS):c.8972G>A (p.Arg2991His) rs192610957 0.00084
NM_014363.6(SACS):c.10972C>T (p.Arg3658Trp) rs115155117 0.00078
NM_014363.6(SACS):c.1374A>G (p.Thr458=) rs149129638 0.00076
NM_014363.6(SACS):c.2146C>T (p.His716Tyr) rs146852400 0.00075
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr) rs149638449 0.00071
NM_014363.6(SACS):c.10668G>A (p.Leu3556=) rs139517699 0.00070
NM_014363.6(SACS):c.2234G>A (p.Arg745His) rs143677534 0.00067
NM_014363.6(SACS):c.13344C>T (p.Arg4448=) rs200157359 0.00061
NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu) rs147013767 0.00060
NM_014363.6(SACS):c.7165G>A (p.Val2389Met) rs142869943 0.00056
NM_014363.6(SACS):c.2186-4A>G rs371866995 0.00054
NM_014363.6(SACS):c.4985C>T (p.Thr1662Met) rs139387396 0.00054
NM_014363.6(SACS):c.260-9G>A rs376676263 0.00048
NM_014363.6(SACS):c.10443C>G (p.Leu3481=) rs144087359 0.00047
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys) rs143433500 0.00043
NM_014363.6(SACS):c.3637T>C (p.Leu1213=) rs577638741 0.00043
NM_014363.6(SACS):c.2602A>G (p.Ile868Val) rs142284018 0.00040
NM_014363.6(SACS):c.1278A>T (p.Leu426Phe) rs138413501 0.00036
NM_014363.6(SACS):c.3144A>G (p.Val1048=) rs3751369 0.00035
NM_014363.6(SACS):c.3828A>G (p.Pro1276=) rs369988818 0.00035
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr) rs190617851 0.00032
NM_014363.6(SACS):c.5583G>C (p.Trp1861Cys) rs140678034 0.00032
NM_014363.6(SACS):c.7725A>T (p.Ile2575=) rs200735789 0.00032
NM_014363.6(SACS):c.10008A>G (p.Lys3336=) rs148971954 0.00031
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958 0.00031
NM_014363.6(SACS):c.439G>C (p.Asp147His) rs202226274 0.00031
NM_014363.6(SACS):c.11385T>G (p.Ala3795=) rs148605896 0.00030
NM_014363.6(SACS):c.3042A>G (p.Leu1014=) rs141982796 0.00030
NM_014363.6(SACS):c.2929C>T (p.Leu977=) rs146296924 0.00029
NM_014363.6(SACS):c.7049A>G (p.Glu2350Gly) rs141091294 0.00029
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu) rs137905181 0.00029
NM_014363.6(SACS):c.12438G>A (p.Ser4146=) rs150959878 0.00026
NM_014363.6(SACS):c.1273C>A (p.Pro425Thr) rs142024534 0.00026
NM_014363.6(SACS):c.3443A>C (p.Lys1148Thr) rs140028127 0.00026
NM_014363.6(SACS):c.2806C>A (p.Gln936Lys) rs61978562 0.00024
NM_014363.6(SACS):c.8577C>T (p.His2859=) rs140016265 0.00024
NM_014363.6(SACS):c.1884C>T (p.Pro628=) rs144468379 0.00023
NM_014363.6(SACS):c.1519A>G (p.Thr507Ala) rs372022664 0.00022
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr) rs147949881 0.00022
NM_014363.6(SACS):c.973G>A (p.Gly325Arg) rs144303334 0.00021
NM_014363.6(SACS):c.7200T>C (p.Phe2400=) rs148544893 0.00020
NM_014363.6(SACS):c.9275A>T (p.Tyr3092Phe) rs139579036 0.00020
NM_014363.6(SACS):c.9778G>C (p.Asp3260His) rs148545339 0.00020
NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser) rs201558584 0.00019
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys) rs61754478 0.00019
NM_014363.6(SACS):c.7647T>G (p.Leu2549=) rs186301471 0.00019
NM_014363.6(SACS):c.9333T>C (p.Asn3111=) rs150532740 0.00019
NM_014363.6(SACS):c.11928T>C (p.Ser3976=) rs145680118 0.00017
NM_014363.6(SACS):c.2492A>G (p.Glu831Gly) rs375968367 0.00017
NM_014363.6(SACS):c.3282C>T (p.Asn1094=) rs145499245 0.00017
NM_014363.6(SACS):c.6084A>T (p.Glu2028Asp) rs149018756 0.00017
NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys) rs138379074 0.00017
NM_014363.6(SACS):c.11703T>C (p.Asn3901=) rs146154135 0.00016
NM_014363.6(SACS):c.12765G>A (p.Arg4255=) rs139692779 0.00016
NM_014363.6(SACS):c.13272C>T (p.Ala4424=) rs567495567 0.00016
NM_014363.6(SACS):c.1444C>G (p.Leu482Val) rs141487769 0.00016
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr) rs76872266 0.00016
NM_014363.6(SACS):c.4302A>G (p.Leu1434=) rs34559250 0.00016
NM_014363.6(SACS):c.6576C>T (p.Ile2192=) rs145327845 0.00016
NM_014363.6(SACS):c.10298C>T (p.Thr3433Ile) rs200991790 0.00015
NM_014363.6(SACS):c.1311G>A (p.Thr437=) rs140671039 0.00015
NM_014363.6(SACS):c.3345C>T (p.Val1115=) rs143287019 0.00015
NM_014363.6(SACS):c.11048A>G (p.Asn3683Ser) rs138609508 0.00014
NM_014363.6(SACS):c.2329T>C (p.Ser777Pro) rs147837803 0.00014
NM_014363.6(SACS):c.5826C>T (p.Tyr1942=) rs759326217 0.00014
NM_014363.6(SACS):c.9299C>A (p.Ser3100Tyr) rs150615169 0.00014
NM_014363.6(SACS):c.1219C>A (p.Leu407Ile) rs201569239 0.00013
NM_014363.6(SACS):c.2175C>G (p.Ala725=) rs756363296 0.00013
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val) rs186436335 0.00013
NM_014363.6(SACS):c.9399A>G (p.Lys3133=) rs762665640 0.00013
NM_014363.6(SACS):c.1081A>G (p.Lys361Glu) rs377027736 0.00012
NM_014363.6(SACS):c.12647A>G (p.Asp4216Gly) rs550068559 0.00012
NM_014363.6(SACS):c.2294A>G (p.Tyr765Cys) rs141553858 0.00012
NM_014363.6(SACS):c.3414T>C (p.Asn1138=) rs146431793 0.00012
NM_014363.6(SACS):c.3423G>A (p.Leu1141=) rs184541898 0.00012
NM_014363.6(SACS):c.4998A>G (p.Thr1666=) rs184994682 0.00012
NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn) rs144715822 0.00012
NM_014363.6(SACS):c.7641A>G (p.Lys2547=) rs780021681 0.00012
NM_014363.6(SACS):c.10076C>T (p.Thr3359Ile) rs368089670 0.00011
NM_014363.6(SACS):c.1033C>T (p.Arg345Trp) rs776156836 0.00011
NM_014363.6(SACS):c.12018G>A (p.Leu4006=) rs774074913 0.00011
NM_014363.6(SACS):c.12451C>T (p.Leu4151=) rs780701057 0.00011
NM_014363.6(SACS):c.13014T>C (p.Pro4338=) rs374410231 0.00011
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn) rs372359781 0.00011
NM_014363.6(SACS):c.2681C>T (p.Ser894Leu) rs201857647 0.00011
NM_014363.6(SACS):c.4689G>A (p.Val1563=) rs574231650 0.00011
NM_014363.6(SACS):c.4900G>C (p.Glu1634Gln) rs143961484 0.00011
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met) rs200810800 0.00011
NM_014363.6(SACS):c.5841C>T (p.Pro1947=) rs145371235 0.00011
NM_014363.6(SACS):c.5903C>T (p.Ala1968Val) rs201866523 0.00011
NM_014363.6(SACS):c.591C>T (p.Val197=) rs750923640 0.00011
NM_014363.6(SACS):c.7288G>A (p.Glu2430Lys) rs201798841 0.00011
NM_014363.6(SACS):c.11244A>G (p.Val3748=) rs757808619 0.00010
NM_014363.6(SACS):c.1464G>A (p.Pro488=) rs375352514 0.00010
NM_014363.6(SACS):c.2409C>T (p.Ile803=) rs146198963 0.00010
NM_014363.6(SACS):c.2494T>C (p.Ser832Pro) rs549957998 0.00010
NM_014363.6(SACS):c.2643G>C (p.Glu881Asp) rs200517685 0.00010
NM_014363.6(SACS):c.5112C>T (p.Asn1704=) rs150065076 0.00010
NM_014363.6(SACS):c.5368G>A (p.Ala1790Thr) rs147517201 0.00010
NM_014363.6(SACS):c.5625T>C (p.Pro1875=) rs1241658594 0.00010
NM_014363.6(SACS):c.5790C>T (p.Asp1930=) rs137910940 0.00010
NM_014363.6(SACS):c.10221A>G (p.Leu3407=) rs143243372 0.00009
NM_014363.6(SACS):c.12260A>G (p.Tyr4087Cys) rs373478772 0.00009
NM_014363.6(SACS):c.1255A>G (p.Ile419Val) rs767818359 0.00009
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu) rs375875022 0.00009
NM_014363.6(SACS):c.2040C>T (p.Ser680=) rs142115704 0.00009
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr) rs371869943 0.00009
NM_014363.6(SACS):c.5744A>G (p.His1915Arg) rs144822691 0.00009
NM_014363.6(SACS):c.9610A>G (p.Lys3204Glu) rs200288861 0.00009
NM_014363.6(SACS):c.1026A>T (p.Lys342Asn) rs190623423 0.00008
NM_014363.6(SACS):c.10482A>G (p.Leu3494=) rs149643158 0.00008
NM_014363.6(SACS):c.10981G>A (p.Ala3661Thr) rs760466234 0.00008
NM_014363.6(SACS):c.11780C>T (p.Ala3927Val) rs142926244 0.00008
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys) rs749383532 0.00008
NM_014363.6(SACS):c.13735G>A (p.Val4579Met) rs571999908 0.00008
NM_014363.6(SACS):c.1912T>G (p.Cys638Gly) rs200333323 0.00008
NM_014363.6(SACS):c.279G>A (p.Thr93=) rs373415912 0.00008
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu) rs747676277 0.00008
NM_014363.6(SACS):c.9246T>C (p.Cys3082=) rs199696650 0.00008
NM_014363.6(SACS):c.10909A>G (p.Met3637Val) rs150309559 0.00007
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln) rs148925505 0.00007
NM_014363.6(SACS):c.12582T>C (p.Tyr4194=) rs1002489210 0.00007
NM_014363.6(SACS):c.175T>A (p.Ser59Thr) rs539836931 0.00007
NM_014363.6(SACS):c.3975G>A (p.Glu1325=) rs547483320 0.00007
NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys) rs375805688 0.00007
NM_014363.6(SACS):c.6178G>C (p.Val2060Leu) rs373226693 0.00007
NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu) rs370095300 0.00007
NM_014363.6(SACS):c.8482A>G (p.Ser2828Gly) rs9552930 0.00007
NM_014363.6(SACS):c.8646T>C (p.His2882=) rs374508473 0.00007
NM_014363.6(SACS):c.9791C>G (p.Thr3264Arg) rs758563983 0.00007
NM_014363.6(SACS):c.10042T>C (p.Leu3348=) rs529925586 0.00006
NM_014363.6(SACS):c.10047A>G (p.Ser3349=) rs138909482 0.00006
NM_014363.6(SACS):c.10709T>C (p.Ile3570Thr) rs763440838 0.00006
NM_014363.6(SACS):c.10790A>G (p.Gln3597Arg) rs1299454627 0.00006
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr) rs201505036 0.00006
NM_014363.6(SACS):c.11091C>T (p.Leu3697=) rs369430972 0.00006
NM_014363.6(SACS):c.11717C>T (p.Ala3906Val) rs375961779 0.00006
NM_014363.6(SACS):c.11746T>C (p.Leu3916=) rs370087920 0.00006
NM_014363.6(SACS):c.11781G>A (p.Ala3927=) rs369998705 0.00006
NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr) rs200707453 0.00006
NM_014363.6(SACS):c.12216T>A (p.Thr4072=) rs574182225 0.00006
NM_014363.6(SACS):c.12854G>A (p.Ser4285Asn) rs371935764 0.00006
NM_014363.6(SACS):c.13106A>G (p.Asp4369Gly) rs770895110 0.00006
NM_014363.6(SACS):c.1881G>A (p.Thr627=) rs148398102 0.00006
NM_014363.6(SACS):c.2024A>G (p.Asn675Ser) rs146395198 0.00006
NM_014363.6(SACS):c.2487C>T (p.Asp829=) rs151198216 0.00006
NM_014363.6(SACS):c.2551G>T (p.Val851Phe) rs756890722 0.00006
NM_014363.6(SACS):c.2776A>G (p.Ile926Val) rs144362131 0.00006
NM_014363.6(SACS):c.2788A>G (p.Ile930Val) rs886050088 0.00006
NM_014363.6(SACS):c.3768C>T (p.Tyr1256=) rs200350631 0.00006
NM_014363.6(SACS):c.4244C>T (p.Ser1415Phe) rs756436405 0.00006
NM_014363.6(SACS):c.432G>T (p.Trp144Cys) rs368570790 0.00006
NM_014363.6(SACS):c.446C>T (p.Ala149Val) rs370474035 0.00006
NM_014363.6(SACS):c.4743C>T (p.Phe1581=) rs143310473 0.00006
NM_014363.6(SACS):c.5529G>C (p.Leu1843=) rs148091738 0.00006
NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu) rs755723511 0.00006
NM_014363.6(SACS):c.6889T>C (p.Leu2297=) rs762976734 0.00006
NM_014363.6(SACS):c.8424T>C (p.Thr2808=) rs149961028 0.00006
NM_014363.6(SACS):c.8579A>G (p.Asn2860Ser) rs201294520 0.00006
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser) rs371019314 0.00006
NM_014363.6(SACS):c.954A>G (p.Leu318=) rs147412202 0.00006
NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys) rs143557803 0.00006
NM_014363.6(SACS):c.9551G>A (p.Arg3184His) rs200453385 0.00006
NM_014363.6(SACS):c.9903G>T (p.Leu3301=) rs563145604 0.00006
NM_014363.6(SACS):c.10980C>T (p.Pro3660=) rs141353693 0.00005
NM_014363.6(SACS):c.11363G>A (p.Arg3788His) rs147369196 0.00005
NM_014363.6(SACS):c.1152T>G (p.Thr384=) rs185643322 0.00005
NM_014363.6(SACS):c.11763C>T (p.Ile3921=) rs749093421 0.00005
NM_014363.6(SACS):c.11884A>T (p.Ile3962Leu) rs746953932 0.00005
NM_014363.6(SACS):c.1202G>A (p.Arg401Gln) rs749599838 0.00005
NM_014363.6(SACS):c.12744T>C (p.Pro4248=) rs369378277 0.00005
NM_014363.6(SACS):c.13039A>G (p.Ile4347Val) rs200939906 0.00005
NM_014363.6(SACS):c.1613C>T (p.Ala538Val) rs368043113 0.00005
NM_014363.6(SACS):c.2454T>C (p.Ile818=) rs370677124 0.00005
NM_014363.6(SACS):c.3729A>G (p.Glu1243=) rs756663705 0.00005
NM_014363.6(SACS):c.396A>G (p.Leu132=) rs1256540997 0.00005
NM_014363.6(SACS):c.4362A>G (p.Ser1454=) rs748395013 0.00005
NM_014363.6(SACS):c.447G>A (p.Ala149=) rs145681117 0.00005
NM_014363.6(SACS):c.5147A>G (p.Lys1716Arg) rs199998045 0.00005
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys) rs754033201 0.00005
NM_014363.6(SACS):c.7042C>T (p.Leu2348=) rs919827837 0.00005
NM_014363.6(SACS):c.7614A>C (p.Ala2538=) rs142697365 0.00005
NM_014363.6(SACS):c.10098T>C (p.His3366=) rs150213486 0.00004
NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile) rs200591364 0.00004
NM_014363.6(SACS):c.10119A>G (p.Thr3373=) rs202084381 0.00004
NM_014363.6(SACS):c.10256G>A (p.Arg3419His) rs536675517 0.00004
NM_014363.6(SACS):c.10438C>T (p.His3480Tyr) rs761189797 0.00004
NM_014363.6(SACS):c.10497C>T (p.Tyr3499=) rs755186798 0.00004
NM_014363.6(SACS):c.10576A>G (p.Ile3526Val) rs199881455 0.00004
NM_014363.6(SACS):c.10983G>A (p.Ala3661=) rs200900703 0.00004
NM_014363.6(SACS):c.11049T>C (p.Asn3683=) rs773770705 0.00004
NM_014363.6(SACS):c.11161G>A (p.Gly3721Ser) rs780789569 0.00004
NM_014363.6(SACS):c.11276C>T (p.Thr3759Met) rs751176093 0.00004
NM_014363.6(SACS):c.11301A>T (p.Lys3767Asn) rs762041995 0.00004
NM_014363.6(SACS):c.11327T>C (p.Ile3776Thr) rs145188410 0.00004
NM_014363.6(SACS):c.11576G>A (p.Arg3859His) rs149427669 0.00004
NM_014363.6(SACS):c.11655C>T (p.Phe3885=) rs780904104 0.00004
NM_014363.6(SACS):c.1224C>T (p.Asp408=) rs2274386 0.00004
NM_014363.6(SACS):c.12297G>T (p.Leu4099=) rs200793339 0.00004
NM_014363.6(SACS):c.12367A>G (p.Met4123Val) rs772068772 0.00004
NM_014363.6(SACS):c.1259T>C (p.Ile420Thr) rs761791412 0.00004
NM_014363.6(SACS):c.12968C>T (p.Ser4323Leu) rs150225486 0.00004
NM_014363.6(SACS):c.12969G>A (p.Ser4323=) rs745807927 0.00004
NM_014363.6(SACS):c.1297G>C (p.Ala433Pro) rs770677319 0.00004
NM_014363.6(SACS):c.13443C>G (p.Thr4481=) rs201439638 0.00004
NM_014363.6(SACS):c.13732A>T (p.Lys4578Ter) rs916523887 0.00004
NM_014363.6(SACS):c.1387C>A (p.His463Asn) rs149951538 0.00004
NM_014363.6(SACS):c.1640C>T (p.Pro547Leu) rs140507581 0.00004
NM_014363.6(SACS):c.1641G>A (p.Pro547=) rs370143541 0.00004
NM_014363.6(SACS):c.1791A>T (p.Ser597=) rs371175405 0.00004
NM_014363.6(SACS):c.1815A>G (p.Pro605=) rs377649927 0.00004
NM_014363.6(SACS):c.1905G>A (p.Leu635=) rs771581634 0.00004
NM_014363.6(SACS):c.1913G>A (p.Cys638Tyr) rs778572943 0.00004
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_014363.6(SACS):c.2597A>G (p.Lys866Arg) rs761960824 0.00004
NM_014363.6(SACS):c.2653T>C (p.Leu885=) rs202075357 0.00004
NM_014363.6(SACS):c.2927G>A (p.Arg976His) rs751415868 0.00004
NM_014363.6(SACS):c.321T>C (p.Tyr107=) rs370370098 0.00004
NM_014363.6(SACS):c.346-3T>A rs186506382 0.00004
NM_014363.6(SACS):c.3551C>G (p.Pro1184Arg) rs374961109 0.00004
NM_014363.6(SACS):c.3771A>T (p.Gly1257=) rs761920446 0.00004
NM_014363.6(SACS):c.3825T>C (p.Phe1275=) rs371761945 0.00004
NM_014363.6(SACS):c.4050A>G (p.Gln1350=) rs756014483 0.00004
NM_014363.6(SACS):c.4255A>G (p.Ile1419Val) rs138245586 0.00004
NM_014363.6(SACS):c.458-17C>T rs765491872 0.00004
NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln) rs764992284 0.00004
NM_014363.6(SACS):c.5274C>T (p.Cys1758=) rs201982449 0.00004
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg) rs376680832 0.00004
NM_014363.6(SACS):c.5832A>G (p.Ala1944=) rs374169472 0.00004
NM_014363.6(SACS):c.5971G>A (p.Val1991Ile) rs191995849 0.00004
NM_014363.6(SACS):c.6030G>T (p.Lys2010Asn) rs769751841 0.00004
NM_014363.6(SACS):c.6095C>T (p.Ser2032Leu) rs551141655 0.00004
NM_014363.6(SACS):c.6409C>G (p.Gln2137Glu) rs201690040 0.00004
NM_014363.6(SACS):c.6447T>C (p.Val2149=) rs373110459 0.00004
NM_014363.6(SACS):c.6496C>T (p.Arg2166Cys) rs764516788 0.00004
NM_014363.6(SACS):c.6561C>T (p.Ile2187=) rs143477126 0.00004
NM_014363.6(SACS):c.6879T>C (p.Val2293=) rs761370882 0.00004
NM_014363.6(SACS):c.7147C>T (p.Arg2383Cys) rs772611372 0.00004
NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys) rs762896797 0.00004
NM_014363.6(SACS):c.7449T>C (p.Tyr2483=) rs755218751 0.00004
NM_014363.6(SACS):c.7650T>G (p.Leu2550=) rs764887405 0.00004
NM_014363.6(SACS):c.7989C>T (p.Pro2663=) rs766086455 0.00004
NM_014363.6(SACS):c.8192G>A (p.Arg2731His) rs201127191 0.00004
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala) rs763504656 0.00004
NM_014363.6(SACS):c.8336A>T (p.Gln2779Leu) rs749327297 0.00004
NM_014363.6(SACS):c.8450C>T (p.Thr2817Met) rs371652968 0.00004
NM_014363.6(SACS):c.8634G>C (p.Gly2878=) rs745677991 0.00004
NM_014363.6(SACS):c.9031A>G (p.Ile3011Val) rs377657177 0.00004
NM_014363.6(SACS):c.9090A>G (p.Leu3030=) rs754628665 0.00004
NM_014363.6(SACS):c.9251T>C (p.Ile3084Thr) rs149290718 0.00004
NM_014363.6(SACS):c.9378A>G (p.Leu3126=) rs749919322 0.00004
NM_014363.6(SACS):c.9788A>G (p.Glu3263Gly) rs369713918 0.00004
NM_014363.6(SACS):c.9947A>C (p.Gln3316Pro) rs775506976 0.00004
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser) rs375898103 0.00003
NM_014363.6(SACS):c.10205A>G (p.Asp3402Gly) rs543563990 0.00003
NM_014363.6(SACS):c.10255C>T (p.Arg3419Cys) rs765758197 0.00003
NM_014363.6(SACS):c.10268T>C (p.Ile3423Thr) rs767281295 0.00003
NM_014363.6(SACS):c.10620C>T (p.Phe3540=) rs192339917 0.00003
NM_014363.6(SACS):c.10675C>G (p.Pro3559Ala) rs767704103 0.00003
NM_014363.6(SACS):c.10787C>T (p.Ser3596Phe) rs755172172 0.00003
NM_014363.6(SACS):c.11280G>A (p.Thr3760=) rs193116488 0.00003
NM_014363.6(SACS):c.11309C>G (p.Ala3770Gly) rs1170997950 0.00003
NM_014363.6(SACS):c.11343T>C (p.Ser3781=) rs372697823 0.00003
NM_014363.6(SACS):c.12665G>A (p.Gly4222Glu) rs774349752 0.00003
NM_014363.6(SACS):c.12909A>G (p.Leu4303=) rs766310291 0.00003
NM_014363.6(SACS):c.13338A>G (p.Glu4446=) rs776796928 0.00003
NM_014363.6(SACS):c.13621T>A (p.Leu4541Met) rs769260277 0.00003
NM_014363.6(SACS):c.1797G>A (p.Lys599=) rs746842075 0.00003
NM_014363.6(SACS):c.1886C>T (p.Ala629Val) rs760505057 0.00003
NM_014363.6(SACS):c.1887G>T (p.Ala629=) rs772895627 0.00003
NM_014363.6(SACS):c.1906C>T (p.Arg636Trp) rs201752905 0.00003
NM_014363.6(SACS):c.1941G>T (p.Lys647Asn) rs201021919 0.00003
NM_014363.6(SACS):c.2460C>T (p.Leu820=) rs761330691 0.00003
NM_014363.6(SACS):c.259+9T>C rs780820263 0.00003
NM_014363.6(SACS):c.260-10C>T rs746220432 0.00003
NM_014363.6(SACS):c.2853C>A (p.His951Gln) rs200644511 0.00003
NM_014363.6(SACS):c.3105A>G (p.Thr1035=) rs1176829935 0.00003
NM_014363.6(SACS):c.3393C>T (p.Leu1131=) rs543758739 0.00003
NM_014363.6(SACS):c.345+14C>T rs538944334 0.00003
NM_014363.6(SACS):c.4098G>C (p.Leu1366=) rs200381539 0.00003
NM_014363.6(SACS):c.4318A>G (p.Ser1440Gly) rs1172044277 0.00003
NM_014363.6(SACS):c.4419A>C (p.Ser1473=) rs375061528 0.00003
NM_014363.6(SACS):c.5169A>G (p.Ala1723=) rs200699984 0.00003
NM_014363.6(SACS):c.5458C>T (p.Leu1820=) rs754748296 0.00003
NM_014363.6(SACS):c.552T>G (p.Pro184=) rs140637560 0.00003
NM_014363.6(SACS):c.5842G>A (p.Asp1948Asn) rs772515267 0.00003
NM_014363.6(SACS):c.5946A>G (p.Gly1982=) rs746358078 0.00003
NM_014363.6(SACS):c.6135A>T (p.Ile2045=) rs532996087 0.00003
NM_014363.6(SACS):c.6728C>T (p.Thr2243Ile) rs749102723 0.00003
NM_014363.6(SACS):c.6750T>C (p.His2250=) rs771083587 0.00003
NM_014363.6(SACS):c.7101G>A (p.Ala2367=) rs764702321 0.00003
NM_014363.6(SACS):c.7431G>C (p.Lys2477Asn) rs745795861 0.00003
NM_014363.6(SACS):c.7497C>T (p.Val2499=) rs774558627 0.00003
NM_014363.6(SACS):c.7632A>G (p.Glu2544=) rs752179231 0.00003
NM_014363.6(SACS):c.7824A>G (p.Gly2608=) rs765747016 0.00003
NM_014363.6(SACS):c.789C>T (p.Asn263=) rs771920263 0.00003
NM_014363.6(SACS):c.7968A>C (p.Pro2656=) rs748718131 0.00003
NM_014363.6(SACS):c.8142G>A (p.Ser2714=) rs530250252 0.00003
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val) rs760976439 0.00003
NM_014363.6(SACS):c.8693G>A (p.Arg2898His) rs201977288 0.00003
NM_014363.6(SACS):c.8990G>A (p.Arg2997Gln) rs139670073 0.00003
NM_014363.6(SACS):c.9283C>G (p.Pro3095Ala) rs201899988 0.00003
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) rs202199411 0.00003
NM_014363.6(SACS):c.9887C>T (p.Pro3296Leu) rs779195622 0.00003
NM_014363.6(SACS):c.1032G>A (p.Glu344=) rs199890147 0.00002
NM_014363.6(SACS):c.10485G>A (p.Glu3495=) rs757255802 0.00002
NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys) rs747013127 0.00002
NM_014363.6(SACS):c.10659T>C (p.Pro3553=) rs1161865880 0.00002
NM_014363.6(SACS):c.10824T>C (p.Ser3608=) rs565066396 0.00002
NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser) rs376188585 0.00002
NM_014363.6(SACS):c.11264T>C (p.Ile3755Thr) rs781590547 0.00002
NM_014363.6(SACS):c.11302A>G (p.Thr3768Ala) rs774463808 0.00002
NM_014363.6(SACS):c.11380G>T (p.Val3794Phe) rs753844954 0.00002
NM_014363.6(SACS):c.11484A>G (p.Leu3828=) rs747807250 0.00002
NM_014363.6(SACS):c.11664A>G (p.Leu3888=) rs752876736 0.00002
NM_014363.6(SACS):c.11775C>T (p.Asp3925=) rs779948707 0.00002
NM_014363.6(SACS):c.11776G>A (p.Asp3926Asn) rs756252903 0.00002
NM_014363.6(SACS):c.12130G>C (p.Gly4044Arg) rs753511073 0.00002
NM_014363.6(SACS):c.12282A>G (p.Lys4094=) rs1405259528 0.00002
NM_014363.6(SACS):c.12G>A (p.Lys4=) rs773980923 0.00002
NM_014363.6(SACS):c.1310C>T (p.Thr437Met) rs199657817 0.00002
NM_014363.6(SACS):c.13152A>G (p.Ala4384=) rs745989305 0.00002
NM_014363.6(SACS):c.13195A>G (p.Thr4399Ala) rs764686360 0.00002
NM_014363.6(SACS):c.13694C>A (p.Ala4565Asp) rs375722463 0.00002
NM_014363.6(SACS):c.1470C>A (p.Ala490=) rs778987108 0.00002
NM_014363.6(SACS):c.1483T>A (p.Phe495Ile) rs748972179 0.00002
NM_014363.6(SACS):c.1608G>A (p.Pro536=) rs745730439 0.00002
NM_014363.6(SACS):c.1620A>G (p.Lys540=) rs758634289 0.00002
NM_014363.6(SACS):c.1731C>G (p.Phe577Leu) rs757746157 0.00002
NM_014363.6(SACS):c.1878G>T (p.Val626=) rs374010041 0.00002
NM_014363.6(SACS):c.2037C>T (p.Phe679=) rs748609446 0.00002
NM_014363.6(SACS):c.2361T>C (p.Tyr787=) rs775295825 0.00002
NM_014363.6(SACS):c.2403A>G (p.Pro801=) rs758503842 0.00002
NM_014363.6(SACS):c.2472G>A (p.Ser824=) rs554395185 0.00002
NM_014363.6(SACS):c.2586G>A (p.Pro862=) rs146383946 0.00002
NM_014363.6(SACS):c.2669A>G (p.Asn890Ser) rs376902764 0.00002
NM_014363.6(SACS):c.2686C>T (p.Leu896Phe) rs760556327 0.00002
NM_014363.6(SACS):c.2733C>T (p.Thr911=) rs199702597 0.00002
NM_014363.6(SACS):c.2791A>T (p.Asn931Tyr) rs190383030 0.00002
NM_014363.6(SACS):c.348A>G (p.Glu116=) rs201206270 0.00002
NM_014363.6(SACS):c.3550C>T (p.Pro1184Ser) rs200831217 0.00002
NM_014363.6(SACS):c.3552A>C (p.Pro1184=) rs779784021 0.00002
NM_014363.6(SACS):c.414C>T (p.Tyr138=) rs199474695 0.00002
NM_014363.6(SACS):c.4599A>C (p.Ser1533=) rs1329953828 0.00002
NM_014363.6(SACS):c.4814G>C (p.Ser1605Thr) rs770007806 0.00002
NM_014363.6(SACS):c.4878C>T (p.Gly1626=) rs778664565 0.00002
NM_014363.6(SACS):c.4955A>G (p.Gln1652Arg) rs148824690 0.00002
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile) rs201724656 0.00002
NM_014363.6(SACS):c.5356G>A (p.Asp1786Asn) rs763496360 0.00002
NM_014363.6(SACS):c.5415A>G (p.Ser1805=) rs777239936 0.00002
NM_014363.6(SACS):c.5433A>G (p.Lys1811=) rs1162334138 0.00002
NM_014363.6(SACS):c.5466T>C (p.Thr1822=) rs757576348 0.00002
NM_014363.6(SACS):c.5526A>G (p.Gly1842=) rs141827449 0.00002
NM_014363.6(SACS):c.5613T>C (p.Phe1871=) rs755450922 0.00002
NM_014363.6(SACS):c.5630G>A (p.Arg1877Gln) rs772866081 0.00002
NM_014363.6(SACS):c.5906A>G (p.His1969Arg) rs776693219 0.00002
NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu) rs747566710 0.00002
NM_014363.6(SACS):c.6201A>G (p.Glu2067=) rs781124615 0.00002
NM_014363.6(SACS):c.6222T>C (p.Asp2074=) rs751390197 0.00002
NM_014363.6(SACS):c.6240T>C (p.Val2080=) rs550680855 0.00002
NM_014363.6(SACS):c.6348C>T (p.Pro2116=) rs375619621 0.00002
NM_014363.6(SACS):c.6518T>C (p.Ile2173Thr) rs368624188 0.00002
NM_014363.6(SACS):c.6593T>C (p.Ile2198Thr) rs754906806 0.00002
NM_014363.6(SACS):c.7207G>C (p.Val2403Leu) rs779973547 0.00002
NM_014363.6(SACS):c.7275A>G (p.Arg2425=) rs761313165 0.00002
NM_014363.6(SACS):c.7281A>C (p.Ile2427=) rs772383957 0.00002
NM_014363.6(SACS):c.7347C>A (p.Gly2449=) rs531087357 0.00002
NM_014363.6(SACS):c.7354T>C (p.Leu2452=) rs761258047 0.00002
NM_014363.6(SACS):c.7365T>C (p.Asp2455=) rs773649898 0.00002
NM_014363.6(SACS):c.7395G>A (p.Ser2465=) rs748990212 0.00002
NM_014363.6(SACS):c.7466C>A (p.Pro2489His) rs766553685 0.00002
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter) rs281865118 0.00002
NM_014363.6(SACS):c.7758A>G (p.Pro2586=) rs753034117 0.00002
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter) rs750732115 0.00002
NM_014363.6(SACS):c.8820A>G (p.Thr2940=) rs370133588 0.00002
NM_014363.6(SACS):c.8948A>G (p.Asn2983Ser) rs200106708 0.00002
NM_014363.6(SACS):c.8958C>T (p.His2986=) rs758029668 0.00002
NM_014363.6(SACS):c.8971C>T (p.Arg2991Cys) rs759112797 0.00002
NM_014363.6(SACS):c.9128A>G (p.Tyr3043Cys) rs761690372 0.00002
NM_014363.6(SACS):c.927T>C (p.Phe309=) rs1031190624 0.00002
NM_014363.6(SACS):c.9525A>G (p.Thr3175=) rs369043814 0.00002
NM_014363.6(SACS):c.9531T>C (p.Tyr3177=) rs746902834 0.00002
NM_014363.6(SACS):c.9654A>G (p.Leu3218=) rs754783325 0.00002
NM_014363.6(SACS):c.9805G>A (p.Asp3269Asn) rs754144089 0.00002
NM_014363.6(SACS):c.9927T>C (p.Ile3309=) rs773836774 0.00002
NM_014363.6(SACS):c.1004C>T (p.Ser335Leu) rs767435985 0.00001
NM_014363.6(SACS):c.1005G>A (p.Ser335=) rs1260369962 0.00001
NM_014363.6(SACS):c.10096C>T (p.His3366Tyr) rs1388546547 0.00001
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter) rs1057517250 0.00001
NM_014363.6(SACS):c.10179C>T (p.Cys3393=) rs1032774472 0.00001
NM_014363.6(SACS):c.10191T>C (p.His3397=) rs1289389815 0.00001
NM_014363.6(SACS):c.10212A>T (p.Ile3404=) rs1883635469 0.00001
NM_014363.6(SACS):c.10254C>T (p.Gly3418=) rs139268069 0.00001
NM_014363.6(SACS):c.10260T>C (p.Tyr3420=) rs1370239378 0.00001
NM_014363.6(SACS):c.10284A>G (p.Thr3428=) rs1447212627 0.00001
NM_014363.6(SACS):c.10290C>T (p.Tyr3430=) rs367735607 0.00001
NM_014363.6(SACS):c.1038G>A (p.Pro346=) rs771344425 0.00001
NM_014363.6(SACS):c.10470T>C (p.Tyr3490=) rs755590920 0.00001
NM_014363.6(SACS):c.10479A>G (p.Lys3493=) rs61754476 0.00001
NM_014363.6(SACS):c.10542G>A (p.Lys3514=) rs773384950 0.00001
NM_014363.6(SACS):c.10617T>C (p.His3539=) rs778799757 0.00001
NM_014363.6(SACS):c.10686C>T (p.Phe3562=) rs762161380 0.00001
NM_014363.6(SACS):c.10728T>C (p.Val3576=) rs1883602063 0.00001
NM_014363.6(SACS):c.10731A>G (p.Thr3577=) rs759287298 0.00001
NM_014363.6(SACS):c.10755C>T (p.Phe3585=) rs772041823 0.00001
NM_014363.6(SACS):c.1083A>G (p.Lys361=) rs755779338 0.00001
NM_014363.6(SACS):c.10859C>T (p.Thr3620Ile) rs543646763 0.00001
NM_014363.6(SACS):c.10881C>T (p.Ile3627=) rs576435320 0.00001
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter) rs780247476 0.00001
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln) rs281865119 0.00001
NM_014363.6(SACS):c.10915T>C (p.Leu3639=) rs755403408 0.00001
NM_014363.6(SACS):c.11037T>C (p.Leu3679=) rs1883575247 0.00001
NM_014363.6(SACS):c.11116A>G (p.Ile3706Val) rs748237614 0.00001
NM_014363.6(SACS):c.11150A>T (p.Lys3717Ile) rs1883567634 0.00001
NM_014363.6(SACS):c.1119T>C (p.Tyr373=) rs752597088 0.00001
NM_014363.6(SACS):c.11214T>C (p.Asn3738=) rs776619164 0.00001
NM_014363.6(SACS):c.11221C>T (p.Leu3741=) rs1190212363 0.00001
NM_014363.6(SACS):c.11337C>T (p.Phe3779=) rs139689925 0.00001
NM_014363.6(SACS):c.11409G>T (p.Trp3803Cys) rs886050075 0.00001
NM_014363.6(SACS):c.11416C>T (p.Leu3806=) rs775539263 0.00001
NM_014363.6(SACS):c.11475G>A (p.Leu3825=) rs773685284 0.00001
NM_014363.6(SACS):c.11532T>C (p.Thr3844=) rs756128473 0.00001
NM_014363.6(SACS):c.11535A>G (p.Glu3845=) rs750167647 0.00001
NM_014363.6(SACS):c.11565A>G (p.Glu3855=) rs1422761558 0.00001
NM_014363.6(SACS):c.11604A>G (p.Gln3868=) rs375025693 0.00001
NM_014363.6(SACS):c.1161A>T (p.Ala387=) rs1870303680 0.00001
NM_014363.6(SACS):c.11684T>G (p.Val3895Gly) rs766487632 0.00001
NM_014363.6(SACS):c.11697C>T (p.Leu3899=) rs767957360 0.00001
NM_014363.6(SACS):c.11706A>G (p.Val3902=) rs1317351655 0.00001
NM_014363.6(SACS):c.11707C>T (p.Arg3903Ter) rs774906736 0.00001
NM_014363.6(SACS):c.11737G>C (p.Asp3913His) rs746782589 0.00001
NM_014363.6(SACS):c.11738A>T (p.Asp3913Val) rs1236705431 0.00001
NM_014363.6(SACS):c.11802C>T (p.Ile3934=) rs762451306 0.00001
NM_014363.6(SACS):c.11838C>T (p.Leu3946=) rs764611013 0.00001
NM_014363.6(SACS):c.11841C>T (p.Ser3947=) rs759055631 0.00001
NM_014363.6(SACS):c.11877T>G (p.Thr3959=) rs1382495342 0.00001
NM_014363.6(SACS):c.11887A>G (p.Met3963Val) rs375613914 0.00001
NM_014363.6(SACS):c.1189_1190del (p.Ser397fs) rs1057516625 0.00001
NM_014363.6(SACS):c.11910A>G (p.Arg3970=) rs745932319 0.00001
NM_014363.6(SACS):c.11982G>A (p.Ala3994=) rs780117352 0.00001
NM_014363.6(SACS):c.11983T>C (p.Leu3995=) rs912497422 0.00001
NM_014363.6(SACS):c.11985G>A (p.Leu3995=) rs1044929287 0.00001
NM_014363.6(SACS):c.1201C>T (p.Arg401Ter) rs769212398 0.00001
NM_014363.6(SACS):c.12059A>G (p.Lys4020Arg) rs1328721442 0.00001
NM_014363.6(SACS):c.12075T>G (p.Asn4025Lys) rs778310483 0.00001
NM_014363.6(SACS):c.12084G>A (p.Leu4028=) rs1242833943 0.00001
NM_014363.6(SACS):c.12086C>G (p.Ala4029Gly) rs200620627 0.00001
NM_014363.6(SACS):c.12090T>C (p.Asn4030=) rs896467064 0.00001
NM_014363.6(SACS):c.1209C>T (p.Ile403=) rs769400626 0.00001
NM_014363.6(SACS):c.12133T>C (p.Leu4045=) rs545028704 0.00001
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) rs281865120 0.00001
NM_014363.6(SACS):c.12195T>C (p.Ile4065=) rs1286408517 0.00001
NM_014363.6(SACS):c.12285C>T (p.Asp4095=) rs1315062956 0.00001
NM_014363.6(SACS):c.12294C>T (p.Phe4098=) rs761749563 0.00001
NM_014363.6(SACS):c.1229T>C (p.Leu410Ser) rs777556535 0.00001
NM_014363.6(SACS):c.1236T>A (p.Asp412Glu) rs752472671 0.00001
NM_014363.6(SACS):c.12429T>C (p.Tyr4143=) rs1193969994 0.00001
NM_014363.6(SACS):c.12474A>G (p.Thr4158=) rs767116262 0.00001
NM_014363.6(SACS):c.12500C>T (p.Thr4167Ile) rs764098635 0.00001
NM_014363.6(SACS):c.12525T>G (p.Val4175=) rs758466161 0.00001
NM_014363.6(SACS):c.1254A>C (p.Pro418=) rs750585737 0.00001
NM_014363.6(SACS):c.12581A>G (p.Tyr4194Cys) rs1486450052 0.00001
NM_014363.6(SACS):c.12585A>G (p.Gly4195=) rs200305087 0.00001
NM_014363.6(SACS):c.12603C>T (p.Tyr4201=) rs770163213 0.00001
NM_014363.6(SACS):c.12606A>C (p.Thr4202=) rs780674369 0.00001
NM_014363.6(SACS):c.1269C>T (p.Ala423=) rs377620507 0.00001
NM_014363.6(SACS):c.12720T>C (p.Leu4240=) rs747702706 0.00001
NM_014363.6(SACS):c.12747G>A (p.Glu4249=) rs779907117 0.00001
NM_014363.6(SACS):c.12789C>G (p.Thr4263=) rs1195826873 0.00001
NM_014363.6(SACS):c.12831T>G (p.Pro4277=) rs1298221924 0.00001
NM_014363.6(SACS):c.12833C>T (p.Pro4278Leu) rs574294199 0.00001
NM_014363.6(SACS):c.12835C>G (p.Leu4279Val) rs537725928 0.00001
NM_014363.6(SACS):c.1284C>T (p.Ser428=) rs941949767 0.00001
NM_014363.6(SACS):c.12858C>T (p.His4286=) rs555927628 0.00001
NM_014363.6(SACS):c.12882C>T (p.Ser4294=) rs769768838 0.00001
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter) rs762947018 0.00001
NM_014363.6(SACS):c.1306G>A (p.Ala436Thr) rs1403003359 0.00001
NM_014363.6(SACS):c.13119C>T (p.Asp4373=) rs368124828 0.00001
NM_014363.6(SACS):c.13149A>G (p.Ser4383=) rs770028802 0.00001
NM_014363.6(SACS):c.13156C>T (p.Arg4386Ter) rs899469618 0.00001
NM_014363.6(SACS):c.13218G>A (p.Thr4406=) rs1229448994 0.00001
NM_014363.6(SACS):c.13263C>G (p.Pro4421=) rs1452082694 0.00001
NM_014363.6(SACS):c.13269A>T (p.Ser4423=) rs1180908312 0.00001
NM_014363.6(SACS):c.13273G>A (p.Gly4425Arg) rs754693143 0.00001
NM_014363.6(SACS):c.13284C>T (p.Tyr4428=) rs753277514 0.00001
NM_014363.6(SACS):c.13419G>A (p.Val4473=) rs751336327 0.00001
NM_014363.6(SACS):c.13476G>C (p.Val4492=) rs370362235 0.00001
NM_014363.6(SACS):c.13506A>G (p.Pro4502=) rs1593119067 0.00001
NM_014363.6(SACS):c.13509T>G (p.Thr4503=) rs745361567 0.00001
NM_014363.6(SACS):c.13536T>C (p.Tyr4512=) rs1593118995 0.00001
NM_014363.6(SACS):c.13538G>A (p.Ser4513Asn) rs138328181 0.00001
NM_014363.6(SACS):c.13574C>G (p.Thr4525Arg) rs750412600 0.00001
NM_014363.6(SACS):c.13692T>C (p.Thr4564=) rs770600182 0.00001
NM_014363.6(SACS):c.13719T>C (p.Asn4573=) rs1309405788 0.00001
NM_014363.6(SACS):c.1389C>T (p.His463=) rs1870277384 0.00001
NM_014363.6(SACS):c.1421G>A (p.Arg474His) rs1271593930 0.00001
NM_014363.6(SACS):c.1485T>C (p.Phe495=) rs779933721 0.00001
NM_014363.6(SACS):c.1566T>A (p.Ser522=) rs1203606581 0.00001
NM_014363.6(SACS):c.1579T>C (p.Ser527Pro) rs771914413 0.00001
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu) rs1440541889 0.00001
NM_014363.6(SACS):c.1614G>A (p.Ala538=) rs1405327643 0.00001
NM_014363.6(SACS):c.1683G>A (p.Val561=) rs1485932032 0.00001
NM_014363.6(SACS):c.1714T>C (p.Leu572=) rs145772567 0.00001
NM_014363.6(SACS):c.1716G>A (p.Leu572=) rs780596882 0.00001
NM_014363.6(SACS):c.1728C>T (p.Tyr576=) rs750748828 0.00001
NM_014363.6(SACS):c.1752A>G (p.Leu584=) rs368626712 0.00001
NM_014363.6(SACS):c.1755A>G (p.Glu585=) rs1287240338 0.00001
NM_014363.6(SACS):c.1762A>G (p.Lys588Glu) rs376186273 0.00001
NM_014363.6(SACS):c.176C>G (p.Ser59Cys) rs773543202 0.00001
NM_014363.6(SACS):c.1846G>C (p.Ala616Pro) rs200437752 0.00001
NM_014363.6(SACS):c.1869del (p.Arg624fs) rs1006060877 0.00001
NM_014363.6(SACS):c.1907G>A (p.Arg636Gln) rs368944813 0.00001
NM_014363.6(SACS):c.1971C>T (p.Asp657=) rs1870208518 0.00001
NM_014363.6(SACS):c.1980C>T (p.Tyr660=) rs991078992 0.00001
NM_014363.6(SACS):c.199C>T (p.Leu67=) rs769143590 0.00001
NM_014363.6(SACS):c.2023A>T (p.Asn675Tyr) rs374667929 0.00001
NM_014363.6(SACS):c.2031C>T (p.Val677=) rs771431845 0.00001
NM_014363.6(SACS):c.2092A>T (p.Arg698Trp) rs965068037 0.00001
NM_014363.6(SACS):c.2093+10C>T rs751417820 0.00001
NM_014363.6(SACS):c.2139G>A (p.Leu713=) rs749720485 0.00001
NM_014363.6(SACS):c.2148C>T (p.His716=) rs780789330 0.00001
NM_014363.6(SACS):c.2170G>T (p.Ala724Ser) rs752593308 0.00001
NM_014363.6(SACS):c.2181C>G (p.Thr727=) rs767656737 0.00001
NM_014363.6(SACS):c.2193A>G (p.Pro731=) rs1290283039 0.00001
NM_014363.6(SACS):c.2233C>T (p.Arg745Cys) rs536614181 0.00001
NM_014363.6(SACS):c.2278T>C (p.Leu760=) rs770454726 0.00001
NM_014363.6(SACS):c.2289A>G (p.Gln763=) rs765734527 0.00001
NM_014363.6(SACS):c.2304T>C (p.Asp768=) rs1869226731 0.00001
NM_014363.6(SACS):c.2379T>C (p.Asp793=) rs1869218552 0.00001
NM_014363.6(SACS):c.2388A>G (p.Leu796=) rs747213520 0.00001
NM_014363.6(SACS):c.2451C>T (p.Leu817=) rs756595744 0.00001
NM_014363.6(SACS):c.2471C>T (p.Ser824Leu) rs762821420 0.00001
NM_014363.6(SACS):c.2488G>A (p.Asp830Asn) rs571646732 0.00001
NM_014363.6(SACS):c.2509C>T (p.Pro837Ser) rs769153924 0.00001
NM_014363.6(SACS):c.2547G>C (p.Gly849=) rs1479328506 0.00001
NM_014363.6(SACS):c.2564T>C (p.Leu855Ser) rs142037771 0.00001
NM_014363.6(SACS):c.2581C>T (p.His861Tyr) rs759265754 0.00001
NM_014363.6(SACS):c.2585C>T (p.Pro862Leu) rs776290829 0.00001
NM_014363.6(SACS):c.2611C>T (p.Pro871Ser) rs370103461 0.00001
NM_014363.6(SACS):c.2682G>A (p.Ser894=) rs369958174 0.00001
NM_014363.6(SACS):c.2702A>T (p.Asp901Val) rs769056718 0.00001
NM_014363.6(SACS):c.2750A>T (p.Glu917Val) rs201491052 0.00001
NM_014363.6(SACS):c.2830T>C (p.Leu944=) rs1348417682 0.00001
NM_014363.6(SACS):c.2862C>T (p.Ala954=) rs776780963 0.00001
NM_014363.6(SACS):c.2877T>C (p.Asp959=) rs761263379 0.00001
NM_014363.6(SACS):c.3017A>G (p.His1006Arg) rs368149368 0.00001
NM_014363.6(SACS):c.3030A>G (p.Thr1010=) rs1869138853 0.00001
NM_014363.6(SACS):c.3060A>G (p.Leu1020=) rs746764976 0.00001
NM_014363.6(SACS):c.3096G>A (p.Glu1032=) rs529746813 0.00001
NM_014363.6(SACS):c.3100T>C (p.Leu1034=) rs1312893381 0.00001
NM_014363.6(SACS):c.3111A>G (p.Leu1037=) rs1299826374 0.00001
NM_014363.6(SACS):c.3147A>T (p.Ser1049=) rs1172279475 0.00001
NM_014363.6(SACS):c.316A>C (p.Arg106=) rs1593155679 0.00001
NM_014363.6(SACS):c.3231T>C (p.Val1077=) rs781272328 0.00001
NM_014363.6(SACS):c.3261A>C (p.Leu1087Phe) rs1417936142 0.00001
NM_014363.6(SACS):c.326A>G (p.Glu109Gly) rs1317414910 0.00001
NM_014363.6(SACS):c.3288C>T (p.Ala1096=) rs966965221 0.00001
NM_014363.6(SACS):c.3300A>G (p.Glu1100=) rs1487356590 0.00001
NM_014363.6(SACS):c.3343G>A (p.Val1115Ile) rs771915442 0.00001
NM_014363.6(SACS):c.3346G>A (p.Gly1116Ser) rs774044532 0.00001
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe) rs139805032 0.00001
NM_014363.6(SACS):c.3397C>T (p.Leu1133=) rs1249661192 0.00001
NM_014363.6(SACS):c.339T>C (p.Ile113=) rs890638661 0.00001
NM_014363.6(SACS):c.3402T>C (p.Val1134=) rs1464284835 0.00001
NM_014363.6(SACS):c.3417C>T (p.His1139=) rs758862765 0.00001
NM_014363.6(SACS):c.345+10A>G rs764420228 0.00001
NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala) rs1443000762 0.00001
NM_014363.6(SACS):c.3516C>A (p.Val1172=) rs771148569 0.00001
NM_014363.6(SACS):c.3545C>T (p.Ala1182Val) rs373859681 0.00001
NM_014363.6(SACS):c.3546A>G (p.Ala1182=) rs772247163 0.00001
NM_014363.6(SACS):c.3554A>G (p.Asp1185Gly) rs755751713 0.00001
NM_014363.6(SACS):c.3618T>C (p.His1206=) rs771089482 0.00001
NM_014363.6(SACS):c.3701G>A (p.Trp1234Ter) rs1248031379 0.00001
NM_014363.6(SACS):c.3726T>C (p.Asp1242=) rs750012725 0.00001
NM_014363.6(SACS):c.3741A>G (p.Gln1247=) rs763977282 0.00001
NM_014363.6(SACS):c.3745C>T (p.Gln1249Ter) rs1027429746 0.00001
NM_014363.6(SACS):c.3868G>T (p.Ala1290Ser) rs757939935 0.00001
NM_014363.6(SACS):c.3918T>C (p.Asn1306=) rs774765353 0.00001
NM_014363.6(SACS):c.3951A>G (p.Leu1317=) rs1276993951 0.00001
NM_014363.6(SACS):c.3969A>T (p.Ser1323=) rs763191564 0.00001
NM_014363.6(SACS):c.4149T>C (p.His1383=) rs749219225 0.00001
NM_014363.6(SACS):c.4200T>C (p.Tyr1400=) rs972483882 0.00001
NM_014363.6(SACS):c.4296A>G (p.Glu1432=) rs1454546564 0.00001
NM_014363.6(SACS):c.434C>G (p.Ser145Ter) rs994374354 0.00001
NM_014363.6(SACS):c.4401T>C (p.Ile1467=) rs1868991227 0.00001
NM_014363.6(SACS):c.4452C>T (p.Asn1484=) rs1371225425 0.00001
NM_014363.6(SACS):c.4491T>C (p.Ile1497=) rs1056501976 0.00001
NM_014363.6(SACS):c.4527C>T (p.Leu1509=) rs1394125839 0.00001
NM_014363.6(SACS):c.4597T>G (p.Ser1533Ala) rs1230237404 0.00001
NM_014363.6(SACS):c.4611C>T (p.Asn1537=) rs759173138 0.00001
NM_014363.6(SACS):c.4612A>G (p.Ile1538Val) rs544249449 0.00001
NM_014363.6(SACS):c.4628A>G (p.Glu1543Gly) rs370324250 0.00001
NM_014363.6(SACS):c.4639A>T (p.Arg1547Trp) rs772907934 0.00001
NM_014363.6(SACS):c.4665A>C (p.Lys1555Asn) rs769852897 0.00001
NM_014363.6(SACS):c.4674T>G (p.Leu1558=) rs781676575 0.00001
NM_014363.6(SACS):c.4692C>T (p.Tyr1564=) rs1455651684 0.00001
NM_014363.6(SACS):c.4701T>C (p.Thr1567=) rs777967700 0.00001
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920 0.00001
NM_014363.6(SACS):c.4749A>G (p.Pro1583=) rs760512075 0.00001
NM_014363.6(SACS):c.475T>C (p.Tyr159His) rs1305721973 0.00001
NM_014363.6(SACS):c.4782C>G (p.Asp1594Glu) rs1330036755 0.00001
NM_014363.6(SACS):c.4803A>G (p.Lys1601=) rs567166548 0.00001
NM_014363.6(SACS):c.483C>T (p.Asn161=) rs762321054 0.00001
NM_014363.6(SACS):c.4840T>C (p.Phe1614Leu) rs771080306 0.00001
NM_014363.6(SACS):c.4857A>G (p.Lys1619=) rs1183984626 0.00001
NM_014363.6(SACS):c.4887A>G (p.Leu1629=) rs1419607062 0.00001
NM_014363.6(SACS):c.4899A>T (p.Val1633=) rs146419598 0.00001
NM_014363.6(SACS):c.4913G>A (p.Ser1638Asn) rs774163551 0.00001
NM_014363.6(SACS):c.4929T>C (p.Leu1643=) rs776977428 0.00001
NM_014363.6(SACS):c.492C>T (p.Phe164=) rs745849958 0.00001
NM_014363.6(SACS):c.4938G>A (p.Leu1646=) rs1316203129 0.00001
NM_014363.6(SACS):c.4944T>C (p.Phe1648=) rs1274561101 0.00001
NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys) rs1269546947 0.00001
NM_014363.6(SACS):c.5060C>T (p.Thr1687Ile) rs776656956 0.00001
NM_014363.6(SACS):c.5064G>A (p.Gln1688=) rs760628805 0.00001
NM_014363.6(SACS):c.510C>T (p.His170=) rs575556786 0.00001
NM_014363.6(SACS):c.5143A>T (p.Lys1715Ter) rs755824618 0.00001
NM_014363.6(SACS):c.5304C>T (p.His1768=) rs373239775 0.00001
NM_014363.6(SACS):c.5322T>C (p.Ile1774=) rs1034825215 0.00001
NM_014363.6(SACS):c.5337G>A (p.Ser1779=) rs767529590 0.00001
NM_014363.6(SACS):c.5557C>T (p.Leu1853=) rs1353300258 0.00001
NM_014363.6(SACS):c.5582G>A (p.Trp1861Ter) rs946368716 0.00001
NM_014363.6(SACS):c.5595A>C (p.Pro1865=) rs777869317 0.00001
NM_014363.6(SACS):c.5610G>A (p.Val1870=) rs765722028 0.00001
NM_014363.6(SACS):c.561C>T (p.Val187=) rs758653462 0.00001
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter) rs761089024 0.00001
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met) rs368494148 0.00001
NM_014363.6(SACS):c.5733G>A (p.Thr1911=) rs754333038 0.00001
NM_014363.6(SACS):c.573A>G (p.Gly191=) rs750678759 0.00001
NM_014363.6(SACS):c.5835A>G (p.Val1945=) rs1593129510 0.00001
NM_014363.6(SACS):c.5848G>A (p.Asp1950Asn) rs370902090 0.00001
NM_014363.6(SACS):c.5898T>C (p.Asp1966=) rs762511209 0.00001
NM_014363.6(SACS):c.5910A>G (p.Gly1970=) rs1236957952 0.00001
NM_014363.6(SACS):c.5930A>G (p.Lys1977Arg) rs774492331 0.00001
NM_014363.6(SACS):c.5932G>A (p.Val1978Ile) rs373812430 0.00001
NM_014363.6(SACS):c.593A>G (p.Tyr198Cys) rs1461096954 0.00001
NM_014363.6(SACS):c.5970C>T (p.Asn1990=) rs199573269 0.00001
NM_014363.6(SACS):c.5975G>A (p.Arg1992Lys) rs758101602 0.00001
NM_014363.6(SACS):c.5985T>C (p.Asp1995=) rs764645489 0.00001
NM_014363.6(SACS):c.598A>G (p.Ile200Val) rs762268076 0.00001
NM_014363.6(SACS):c.6006A>G (p.Arg2002=) rs920395434 0.00001
NM_014363.6(SACS):c.6186T>C (p.Phe2062=) rs755689089 0.00001
NM_014363.6(SACS):c.6235T>C (p.Phe2079Leu) rs1364796862 0.00001
NM_014363.6(SACS):c.623G>T (p.Ser208Ile) rs911764681 0.00001
NM_014363.6(SACS):c.6288A>T (p.Pro2096=) rs139242482 0.00001
NM_014363.6(SACS):c.6383A>G (p.Asp2128Gly) rs762352013 0.00001
NM_014363.6(SACS):c.6399T>C (p.Tyr2133=) rs775060182 0.00001
NM_014363.6(SACS):c.6577G>A (p.Asp2193Asn) rs149278134 0.00001
NM_014363.6(SACS):c.6627A>G (p.Lys2209=) rs764616342 0.00001
NM_014363.6(SACS):c.6778A>G (p.Ile2260Val) rs202110208 0.00001
NM_014363.6(SACS):c.6857A>G (p.Lys2286Arg) rs754381972 0.00001
NM_014363.6(SACS):c.6864A>G (p.Pro2288=) rs756561578 0.00001
NM_014363.6(SACS):c.6921A>G (p.Gly2307=) rs200277478 0.00001
NM_014363.6(SACS):c.6939G>A (p.Glu2313=) rs746279125 0.00001
NM_014363.6(SACS):c.7100C>T (p.Ala2367Val) rs752273313 0.00001
NM_014363.6(SACS):c.7164C>T (p.Thr2388=) rs918107481 0.00001
NM_014363.6(SACS):c.7182A>G (p.Ser2394=) rs768013904 0.00001
NM_014363.6(SACS):c.7203T>C (p.Ala2401=) rs1400244997 0.00001
NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs) rs773182375 0.00001
NM_014363.6(SACS):c.7230A>G (p.Glu2410=) rs765300147 0.00001
NM_014363.6(SACS):c.7246A>G (p.Ile2416Val) rs774907744 0.00001
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter) rs145766983 0.00001
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val) rs1007936574 0.00001
NM_014363.6(SACS):c.7306A>C (p.Ile2436Leu) rs567650774 0.00001
NM_014363.6(SACS):c.7311A>G (p.Arg2437=) rs1472391006 0.00001
NM_014363.6(SACS):c.7314A>G (p.Glu2438=) rs748828472 0.00001
NM_014363.6(SACS):c.7376T>C (p.Met2459Thr) rs767864000 0.00001
NM_014363.6(SACS):c.7485A>G (p.Lys2495=) rs767941919 0.00001
NM_014363.6(SACS):c.7569G>A (p.Gly2523=) rs749462494 0.00001
NM_014363.6(SACS):c.7595T>C (p.Ile2532Thr) rs1292962703 0.00001
NM_014363.6(SACS):c.7613C>T (p.Ala2538Val) rs1397645663 0.00001
NM_014363.6(SACS):c.7674G>A (p.Ala2558=) rs983508748 0.00001
NM_014363.6(SACS):c.7692G>A (p.Val2564=) rs771924997 0.00001
NM_014363.6(SACS):c.7713A>G (p.Pro2571=) rs557113294 0.00001
NM_014363.6(SACS):c.7742C>T (p.Ala2581Val) rs866333277 0.00001
NM_014363.6(SACS):c.7747T>C (p.Leu2583=) rs1017350676 0.00001
NM_014363.6(SACS):c.774G>A (p.Lys258=) rs1165959000 0.00001
NM_014363.6(SACS):c.7833G>A (p.Thr2611=) rs1237743096 0.00001
NM_014363.6(SACS):c.7962T>C (p.Tyr2654=) rs777875035 0.00001
NM_014363.6(SACS):c.7974C>G (p.Ala2658=) rs148209022 0.00001
NM_014363.6(SACS):c.7981A>G (p.Ile2661Val) rs1269342975 0.00001
NM_014363.6(SACS):c.8012A>G (p.Asp2671Gly) rs373785542 0.00001
NM_014363.6(SACS):c.8058G>C (p.Leu2686=) rs779477513 0.00001
NM_014363.6(SACS):c.8104C>T (p.Leu2702Phe) rs1593126754 0.00001
NM_014363.6(SACS):c.8108G>A (p.Arg2703His) rs750181262 0.00001
NM_014363.6(SACS):c.8109T>C (p.Arg2703=) rs750168452 0.00001
NM_014363.6(SACS):c.8132C>T (p.Ser2711Leu) rs1213203489 0.00001
NM_014363.6(SACS):c.8133G>A (p.Ser2711=) rs143386746 0.00001
NM_014363.6(SACS):c.8141C>T (p.Ser2714Leu) rs762610527 0.00001
NM_014363.6(SACS):c.814C>T (p.Arg272Cys) rs374128662 0.00001
NM_014363.6(SACS):c.8154A>G (p.Ala2718=) rs773434326 0.00001
NM_014363.6(SACS):c.8166G>T (p.Met2722Ile) rs1327898921 0.00001
NM_014363.6(SACS):c.818T>A (p.Phe273Tyr) rs182864646 0.00001
NM_014363.6(SACS):c.8191C>T (p.Arg2731Cys) rs772072343 0.00001
NM_014363.6(SACS):c.8281G>A (p.Val2761Met) rs372119773 0.00001
NM_014363.6(SACS):c.8307C>A (p.Ile2769=) rs1478809811 0.00001
NM_014363.6(SACS):c.831A>G (p.Leu277=) rs747543820 0.00001
NM_014363.6(SACS):c.8337A>G (p.Gln2779=) rs777320906 0.00001
NM_014363.6(SACS):c.8356G>C (p.Asp2786His) rs753607639 0.00001
NM_014363.6(SACS):c.8357A>G (p.Asp2786Gly) rs1566063039 0.00001
NM_014363.6(SACS):c.8379G>A (p.Gln2793=) rs776028181 0.00001
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile) rs772742353 0.00001
NM_014363.6(SACS):c.8504G>A (p.Ser2835Asn) rs1382975968 0.00001
NM_014363.6(SACS):c.861C>T (p.Tyr287=) rs200877272 0.00001
NM_014363.6(SACS):c.8697T>C (p.Asp2899=) rs766827808 0.00001
NM_014363.6(SACS):c.8799T>C (p.Tyr2933=) rs779302353 0.00001
NM_014363.6(SACS):c.8844del (p.Ile2949fs) rs281865117 0.00001
NM_014363.6(SACS):c.8880A>G (p.Leu2960=) rs1373611853 0.00001
NM_014363.6(SACS):c.8883G>A (p.Ser2961=) rs1463204431 0.00001
NM_014363.6(SACS):c.8900G>A (p.Arg2967His) rs777753707 0.00001
NM_014363.6(SACS):c.8922A>G (p.Leu2974=) rs563864403 0.00001
NM_014363.6(SACS):c.8931A>G (p.Leu2977=) rs376228714 0.00001
NM_014363.6(SACS):c.8949T>C (p.Asn2983=) rs530439104 0.00001
NM_014363.6(SACS):c.8956C>G (p.His2986Asp) rs751888795 0.00001
NM_014363.6(SACS):c.8976T>C (p.Leu2992=) rs1184717209 0.00001
NM_014363.6(SACS):c.9008G>C (p.Gly3003Ala) rs1170753806 0.00001
NM_014363.6(SACS):c.9108A>G (p.Gln3036=) rs1226706134 0.00001
NM_014363.6(SACS):c.9168T>C (p.Tyr3056=) rs374129015 0.00001
NM_014363.6(SACS):c.9173T>G (p.Leu3058Arg) rs758654165 0.00001
NM_014363.6(SACS):c.9232A>G (p.Asn3078Asp) rs755698899 0.00001
NM_014363.6(SACS):c.924C>G (p.Leu308=) rs368573394 0.00001
NM_014363.6(SACS):c.9292A>G (p.Ile3098Val) rs745664974 0.00001
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter) rs886041949 0.00001
NM_014363.6(SACS):c.930G>T (p.Leu310=) rs1003682599 0.00001
NM_014363.6(SACS):c.9324T>C (p.Pro3108=) rs748663426 0.00001
NM_014363.6(SACS):c.9339T>C (p.His3113=) rs1883704767 0.00001
NM_014363.6(SACS):c.9345G>C (p.Gly3115=) rs1356778975 0.00001
NM_014363.6(SACS):c.9426T>C (p.Asp3142=) rs984124456 0.00001
NM_014363.6(SACS):c.944A>G (p.Asp315Gly) rs771115225 0.00001
NM_014363.6(SACS):c.9474A>G (p.Thr3158=) rs1421120585 0.00001
NM_014363.6(SACS):c.9492A>C (p.Gln3164His) rs1025915131 0.00001
NM_014363.6(SACS):c.9516G>A (p.Lys3172=) rs1409643298 0.00001
NM_014363.6(SACS):c.9538T>C (p.Leu3180=) rs1249527788 0.00001
NM_014363.6(SACS):c.9573A>G (p.Thr3191=) rs761821873 0.00001
NM_014363.6(SACS):c.9618A>G (p.Ala3206=) rs1377041786 0.00001
NM_014363.6(SACS):c.9636C>T (p.Ser3212=) rs746474360 0.00001
NM_014363.6(SACS):c.9661G>A (p.Val3221Met) rs142867964 0.00001
NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys) rs776143384 0.00001
NM_014363.6(SACS):c.9680A>C (p.Lys3227Thr) rs765635417 0.00001
NM_014363.6(SACS):c.9723G>C (p.Glu3241Asp) rs772595501 0.00001
NM_014363.6(SACS):c.9731T>A (p.Leu3244His) rs886042769 0.00001
NM_014363.6(SACS):c.9765A>G (p.Val3255=) rs749004855 0.00001
NM_014363.6(SACS):c.9801A>T (p.Thr3267=) rs765872254 0.00001
NM_014363.6(SACS):c.9822T>C (p.Thr3274=) rs771522497 0.00001
NM_014363.6(SACS):c.984A>G (p.Lys328=) rs1870322643 0.00001
NM_014363.6(SACS):c.9885T>A (p.Val3295=) rs752805757 0.00001
NM_014363.6(SACS):c.9915C>T (p.Ser3305=) rs761124250 0.00001
NM_014363.6(SACS):c.9956_9957dup (p.Val3320fs) rs772704931 0.00001
NM_014363.6(SACS):c.9996T>C (p.Leu3332=) rs1484198071 0.00001
NC_000013.10:g.(?_23903991)_(23905304_?)del
NC_000013.10:g.(?_23927914)_(23985388_?)del
NC_000013.10:g.(?_23985349)_(23985388_?)del
NC_000013.11:g.(?_23353775)_(23358491_?)del
NM_014363.6(SACS):c.10000T>C (p.Leu3334=) rs2137578816
NM_014363.6(SACS):c.10002G>A (p.Leu3334=) rs2137578794
NM_014363.6(SACS):c.10005C>T (p.Asn3335=)
NM_014363.6(SACS):c.10023C>T (p.Asp3341=) rs2137578682
NM_014363.6(SACS):c.10026T>C (p.Ser3342=)
NM_014363.6(SACS):c.10029A>G (p.Ala3343=) rs1018403111
NM_014363.6(SACS):c.1004C>A (p.Ser335Ter) rs767435985
NM_014363.6(SACS):c.10056A>G (p.Thr3352=)
NM_014363.6(SACS):c.10056A>T (p.Thr3352=)
NM_014363.6(SACS):c.1005G>C (p.Ser335=) rs1260369962
NM_014363.6(SACS):c.10062T>C (p.Asn3354=)
NM_014363.6(SACS):c.10063A>G (p.Ile3355Val)
NM_014363.6(SACS):c.10064T>G (p.Ile3355Arg) rs372488932
NM_014363.6(SACS):c.10068G>A (p.Glu3356=) rs559719069
NM_014363.6(SACS):c.10068G>C (p.Glu3356Asp)
NM_014363.6(SACS):c.10070G>A (p.Ser3357Asn)
NM_014363.6(SACS):c.10072C>G (p.Pro3358Ala)
NM_014363.6(SACS):c.10074C>T (p.Pro3358=)
NM_014363.6(SACS):c.10076C>A (p.Thr3359Lys) rs368089670
NM_014363.6(SACS):c.10079del (p.Ser3360fs)
NM_014363.6(SACS):c.10083C>T (p.Ile3361=)
NM_014363.6(SACS):c.10089G>A (p.Lys3363=)
NM_014363.6(SACS):c.10093C>G (p.Leu3365Val)
NM_014363.6(SACS):c.10093C>T (p.Leu3365=)
NM_014363.6(SACS):c.10095A>G (p.Leu3365=) rs2137578067
NM_014363.6(SACS):c.10100_10121del (p.Tyr3367fs) rs2137577673
NM_014363.6(SACS):c.10101T>C (p.Tyr3367=)
NM_014363.6(SACS):c.10106T>G (p.Val3369Gly)
NM_014363.6(SACS):c.10110A>G (p.Gln3370=)
NM_014363.6(SACS):c.10115dup (p.Thr3373fs)
NM_014363.6(SACS):c.10122T>C (p.Phe3374=) rs2137577656
NM_014363.6(SACS):c.10125A>G (p.Arg3375=) rs766231682
NM_014363.6(SACS):c.10126G>A (p.Ala3376Thr)
NM_014363.6(SACS):c.10133A>G (p.Lys3378Arg)
NM_014363.6(SACS):c.10134A>G (p.Lys3378=)
NM_014363.6(SACS):c.1014dup (p.Lys339Ter) rs2137725980
NM_014363.6(SACS):c.10152T>C (p.Phe3384=)
NM_014363.6(SACS):c.10158A>G (p.Ala3386=) rs775633710
NM_014363.6(SACS):c.10162T>C (p.Leu3388=)
NM_014363.6(SACS):c.10164G>A (p.Leu3388=) rs1482698759
NM_014363.6(SACS):c.10175A>G (p.Asn3392Ser) rs746316505
NM_014363.6(SACS):c.10194G>T (p.Leu3398Phe)
NM_014363.6(SACS):c.10197G>A (p.Met3399Ile)
NM_014363.6(SACS):c.10200C>A (p.Ser3400=)
NM_014363.6(SACS):c.10200C>T (p.Ser3400=) rs1593123933
NM_014363.6(SACS):c.10219C>G (p.Leu3407Val)
NM_014363.6(SACS):c.10221A>T (p.Leu3407=)
NM_014363.6(SACS):c.10227A>G (p.Ser3409=) rs1593123878
NM_014363.6(SACS):c.10230T>C (p.Leu3410=)
NM_014363.6(SACS):c.10231C>G (p.Pro3411Ala)
NM_014363.6(SACS):c.10233G>A (p.Pro3411=) rs750961199
NM_014363.6(SACS):c.10233G>T (p.Pro3411=) rs750961199
NM_014363.6(SACS):c.10238A>G (p.Tyr3413Cys)
NM_014363.6(SACS):c.10266C>T (p.Ser3422=)
NM_014363.6(SACS):c.10291G>A (p.Val3431Ile)
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu) rs144179865
NM_014363.6(SACS):c.10298C>G (p.Thr3433Arg) rs200991790
NM_014363.6(SACS):c.10299A>T (p.Thr3433=) rs2137576092
NM_014363.6(SACS):c.1029T>C (p.His343=)
NM_014363.6(SACS):c.10308C>G (p.Ile3436Met)
NM_014363.6(SACS):c.10311T>C (p.Pro3437=) rs2137575945
NM_014363.6(SACS):c.10327A>C (p.Lys3443Gln) rs768317695
NM_014363.6(SACS):c.10327A>G (p.Lys3443Glu)
NM_014363.6(SACS):c.10335A>T (p.Thr3445=) rs1883628192
NM_014363.6(SACS):c.10340C>T (p.Ser3447Leu) rs2137575641
NM_014363.6(SACS):c.1034G>A (p.Arg345Gln)
NM_014363.6(SACS):c.10353A>G (p.Ala3451=) rs1376530764
NM_014363.6(SACS):c.1035G>A (p.Arg345=) rs2137725795
NM_014363.6(SACS):c.10374C>T (p.His3458=)
NM_014363.6(SACS):c.10377A>G (p.Leu3459=)
NM_014363.6(SACS):c.10379_10383del (p.Lys3460fs) rs1555250255
NM_014363.6(SACS):c.1037C>T (p.Pro346Leu)
NM_014363.6(SACS):c.10383A>G (p.Glu3461=)
NM_014363.6(SACS):c.10384C>T (p.Leu3462=)
NM_014363.6(SACS):c.10387T>C (p.Tyr3463His) rs1883623876
NM_014363.6(SACS):c.10394T>G (p.Val3465Gly)
NM_014363.6(SACS):c.10398T>C (p.Ile3466=)
NM_014363.6(SACS):c.10398T>G (p.Ile3466Met)
NM_014363.6(SACS):c.1039A>G (p.Asn347Asp)
NM_014363.6(SACS):c.10401T>C (p.Gly3467=)
NM_014363.6(SACS):c.10428A>G (p.Val3476=) rs2137574942
NM_014363.6(SACS):c.10440C>T (p.His3480=)
NM_014363.6(SACS):c.10443C>T (p.Leu3481=) rs144087359
NM_014363.6(SACS):c.10454T>C (p.Ile3485Thr)
NM_014363.6(SACS):c.10458A>C (p.Glu3486Asp)
NM_014363.6(SACS):c.1045A>G (p.Ile349Val)
NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs) rs786204416
NM_014363.6(SACS):c.10467T>G (p.Ser3489=)
NM_014363.6(SACS):c.10473T>C (p.Asp3491=) rs2137574612
NM_014363.6(SACS):c.10489T>C (p.Leu3497=)
NM_014363.6(SACS):c.10494C>A (p.Ile3498=)
NM_014363.6(SACS):c.10494C>G (p.Ile3498Met)
NM_014363.6(SACS):c.10497C>A (p.Tyr3499Ter) rs755186798
NM_014363.6(SACS):c.10497_10500del (p.Ile3498_Tyr3499insTer) rs2137574344
NM_014363.6(SACS):c.10498C>T (p.Leu3500Phe)
NM_014363.6(SACS):c.10500T>A (p.Leu3500=) rs976749171
NM_014363.6(SACS):c.10506T>C (p.Asn3502=)
NM_014363.6(SACS):c.10510T>C (p.Leu3504=) rs771474242
NM_014363.6(SACS):c.10518T>C (p.Ser3506=) rs2137574163
NM_014363.6(SACS):c.10520C>G (p.Ala3507Gly)
NM_014363.6(SACS):c.10521T>C (p.Ala3507=)
NM_014363.6(SACS):c.10543G>T (p.Glu3515Ter)
NM_014363.6(SACS):c.10545A>G (p.Glu3515=) rs2137573919
NM_014363.6(SACS):c.10546C>T (p.Gln3516Ter) rs1593123432
NM_014363.6(SACS):c.10548A>G (p.Gln3516=)
NM_014363.6(SACS):c.10551T>A (p.Leu3517=) rs2137573889
NM_014363.6(SACS):c.10558A>G (p.Lys3520Glu)
NM_014363.6(SACS):c.10561C>T (p.Leu3521=) rs2137573846
NM_014363.6(SACS):c.10566A>C (p.Glu3522Asp)
NM_014363.6(SACS):c.10569T>C (p.Ser3523=)
NM_014363.6(SACS):c.10572A>G (p.Leu3524=) rs878854976
NM_014363.6(SACS):c.10573T>C (p.Leu3525=)
NM_014363.6(SACS):c.10575G>A (p.Leu3525=) rs2137573752
NM_014363.6(SACS):c.10581C>T (p.Ile3527=)
NM_014363.6(SACS):c.1058G>A (p.Gly353Glu)
NM_014363.6(SACS):c.10600C>T (p.Leu3534=)
NM_014363.6(SACS):c.10605G>C (p.Lys3535Asn)
NM_014363.6(SACS):c.10608A>G (p.Gln3536=) rs1883610386
NM_014363.6(SACS):c.10614G>A (p.Lys3538=)
NM_014363.6(SACS):c.1061C>G (p.Thr354Ser) rs1425519295
NM_014363.6(SACS):c.10626T>C (p.Asp3542=)
NM_014363.6(SACS):c.10635G>C (p.Val3545=) rs2137573341
NM_014363.6(SACS):c.10650T>A (p.Val3550=) rs2137573236
NM_014363.6(SACS):c.10651A>G (p.Met3551Val)
NM_014363.6(SACS):c.10656T>C (p.Leu3552=) rs2137573154
NM_014363.6(SACS):c.1065T>C (p.Ala355=)
NM_014363.6(SACS):c.10665A>G (p.Lys3555=)
NM_014363.6(SACS):c.10666T>C (p.Leu3556=)
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu) rs148286091
NM_014363.6(SACS):c.1066A>G (p.Ile356Val) rs148286091
NM_014363.6(SACS):c.10671dup (p.Ile3558fs) rs2137573025
NM_014363.6(SACS):c.10677T>A (p.Pro3559=) rs2137572981
NM_014363.6(SACS):c.1067T>C (p.Ile356Thr)
NM_014363.6(SACS):c.10680T>C (p.Asn3560=) rs2137572964
NM_014363.6(SACS):c.10683T>C (p.Asp3561=)
NM_014363.6(SACS):c.10692del (p.Lys3565fs) rs2137572889
NM_014363.6(SACS):c.10708A>T (p.Ile3570Leu) rs878854977
NM_014363.6(SACS):c.10714C>T (p.Pro3572Ser)
NM_014363.6(SACS):c.10716C>G (p.Pro3572=) rs886050077
NM_014363.6(SACS):c.10716C>T (p.Pro3572=)
NM_014363.6(SACS):c.1071T>C (p.Ser357=)
NM_014363.6(SACS):c.10724A>G (p.His3575Arg)
NM_014363.6(SACS):c.10724A>T (p.His3575Leu) rs370579192
NM_014363.6(SACS):c.10725T>C (p.His3575=) rs1368388819
NM_014363.6(SACS):c.10731A>C (p.Thr3577=) rs759287298
NM_014363.6(SACS):c.1073A>G (p.Asn358Ser)
NM_014363.6(SACS):c.10747G>A (p.Val3583Met)
NM_014363.6(SACS):c.10759A>C (p.Arg3587=)
NM_014363.6(SACS):c.10761A>G (p.Arg3587=)
NM_014363.6(SACS):c.10765A>G (p.Ile3589Val)
NM_014363.6(SACS):c.10766T>C (p.Ile3589Thr)
NM_014363.6(SACS):c.1076_1077del (p.Tyr359fs)
NM_014363.6(SACS):c.10773A>G (p.Leu3591=) rs1465126175
NM_014363.6(SACS):c.1077T>C (p.Tyr359=) rs922749393
NM_014363.6(SACS):c.10780A>G (p.Ile3594Val) rs994425261
NM_014363.6(SACS):c.10788_10789del (p.Gln3597fs) rs2137572074
NM_014363.6(SACS):c.10791_10792delinsAA (p.Gln3598Lys)
NM_014363.6(SACS):c.10794G>A (p.Gln3598=)
NM_014363.6(SACS):c.10797G>A (p.Gln3599=) rs2137571967
NM_014363.6(SACS):c.1079G>A (p.Cys360Tyr)
NM_014363.6(SACS):c.10800G>C (p.Leu3600Phe)
NM_014363.6(SACS):c.10804C>T (p.Gln3602Ter) rs1057517002
NM_014363.6(SACS):c.10812T>C (p.Ala3604=)
NM_014363.6(SACS):c.10818A>T (p.Glu3606Asp)
NM_014363.6(SACS):c.10825G>A (p.Val3609Met)
NM_014363.6(SACS):c.10830G>A (p.Arg3610=) rs2137571629
NM_014363.6(SACS):c.10832C>T (p.Ala3611Val)
NM_014363.6(SACS):c.10847G>A (p.Trp3616Ter) rs1365858851
NM_014363.6(SACS):c.10855G>T (p.Glu3619Ter) rs748151842
NM_014363.6(SACS):c.1085A>G (p.Lys362Arg)
NM_014363.6(SACS):c.10866A>G (p.Gln3622=)
NM_014363.6(SACS):c.1086G>A (p.Lys362=)
NM_014363.6(SACS):c.10880T>G (p.Ile3627Ser)
NM_014363.6(SACS):c.10884T>C (p.Leu3628=)
NM_014363.6(SACS):c.10900C>T (p.Gln3634Ter)
NM_014363.6(SACS):c.10901A>T (p.Gln3634Leu)
NM_014363.6(SACS):c.10917G>T (p.Leu3639Phe)
NM_014363.6(SACS):c.10932T>C (p.Phe3644=) rs2137570828
NM_014363.6(SACS):c.10933C>T (p.Leu3645=) rs761683862
NM_014363.6(SACS):c.10933del (p.Phe3644_Leu3645insTer) rs1566058677
NM_014363.6(SACS):c.10935G>C (p.Leu3645=) rs2137570784
NM_014363.6(SACS):c.10938_10941del (p.Lys3646fs)
NM_014363.6(SACS):c.10939G>T (p.Glu3647Ter) rs1156566314
NM_014363.6(SACS):c.10941A>G (p.Glu3647=)
NM_014363.6(SACS):c.10944A>G (p.Leu3648=) rs2137570658
NM_014363.6(SACS):c.10948T>C (p.Leu3650=) rs1185242012
NM_014363.6(SACS):c.10949del (p.Ser3649_Leu3650insTer)
NM_014363.6(SACS):c.10955del (p.Pro3652fs)
NM_014363.6(SACS):c.10966C>A (p.Pro3656Thr)
NM_014363.6(SACS):c.10968T>C (p.Pro3656=) rs1052860179
NM_014363.6(SACS):c.10971G>A (p.Glu3657=)
NM_014363.6(SACS):c.10975G>C (p.Ala3659Pro)
NM_014363.6(SACS):c.10977C>T (p.Ala3659=)
NM_014363.6(SACS):c.10991T>C (p.Ile3664Thr)
NM_014363.6(SACS):c.11012_11013del (p.Gln3671fs)
NM_014363.6(SACS):c.11017G>A (p.Val3673Ile)
NM_014363.6(SACS):c.1101C>T (p.Asn367=) rs2137725129
NM_014363.6(SACS):c.11025A>G (p.Gly3675=) rs2137569964
NM_014363.6(SACS):c.11037T>G (p.Leu3679=) rs1883575247
NM_014363.6(SACS):c.11039T>C (p.Ile3680Thr)
NM_014363.6(SACS):c.11040A>C (p.Ile3680=) rs750092480
NM_014363.6(SACS):c.11045del (p.Phe3682fs)
NM_014363.6(SACS):c.11052A>G (p.Gly3684=)
NM_014363.6(SACS):c.11064T>C (p.Asn3688=) rs2137569675
NM_014363.6(SACS):c.11066C>T (p.Pro3689Leu)
NM_014363.6(SACS):c.11079A>G (p.Gln3693=) rs769714986
NM_014363.6(SACS):c.1107C>T (p.Thr369=) rs762838789
NM_014363.6(SACS):c.11100A>G (p.Leu3700=)
NM_014363.6(SACS):c.11109C>T (p.Ser3703=) rs1883570677
NM_014363.6(SACS):c.11109del (p.Cys3704fs) rs2137569412
NM_014363.6(SACS):c.11124A>T (p.Pro3708=)
NM_014363.6(SACS):c.11127G>A (p.Glu3709=)
NM_014363.6(SACS):c.11130A>G (p.Lys3710=)
NM_014363.6(SACS):c.11135C>T (p.Thr3712Ile)
NM_014363.6(SACS):c.11136del (p.Pro3713_Leu3714insTer) rs2137569225
NM_014363.6(SACS):c.11139C>T (p.Pro3713=) rs1282794513
NM_014363.6(SACS):c.1113A>G (p.Val371=)
NM_014363.6(SACS):c.11143A>G (p.Ser3715Gly)
NM_014363.6(SACS):c.11145C>T (p.Ser3715=)
NM_014363.6(SACS):c.11146A>G (p.Ile3716Val)
NM_014363.6(SACS):c.11157del (p.Glu3720fs)
NM_014363.6(SACS):c.11162G>A (p.Gly3721Asp)
NM_014363.6(SACS):c.11163T>C (p.Gly3721=)
NM_014363.6(SACS):c.11165G>A (p.Ser3722Asn)
NM_014363.6(SACS):c.11166_11167del (p.Ser3722fs) rs1883566609
NM_014363.6(SACS):c.11168A>T (p.Asp3723Val)
NM_014363.6(SACS):c.11175T>C (p.Gly3725=) rs2137568885
NM_014363.6(SACS):c.11177C>A (p.Pro3726Gln)
NM_014363.6(SACS):c.11181A>G (p.Gln3727=)
NM_014363.6(SACS):c.11187G>A (p.Gln3729=) rs2137568781
NM_014363.6(SACS):c.11194C>G (p.Gln3732Glu)
NM_014363.6(SACS):c.11194C>T (p.Gln3732Ter)
NM_014363.6(SACS):c.1121_1122del (p.His374fs)
NM_014363.6(SACS):c.11223G>C (p.Leu3741=)
NM_014363.6(SACS):c.11226T>C (p.Asp3742=) rs762007924
NM_014363.6(SACS):c.11227C>T (p.Pro3743Ser)
NM_014363.6(SACS):c.11229T>A (p.Pro3743=) rs2137568490
NM_014363.6(SACS):c.1122C>T (p.His374=) rs1261457815
NM_014363.6(SACS):c.11232T>A (p.Pro3744=) rs1593122516
NM_014363.6(SACS):c.11235T>C (p.Leu3745=)
NM_014363.6(SACS):c.1123G>A (p.Val375Ile)
NM_014363.6(SACS):c.11245A>G (p.Ile3749Val)
NM_014363.6(SACS):c.11247C>T (p.Ile3749=) rs2137568386
NM_014363.6(SACS):c.11247_11250del (p.Asn3750fs) rs753205260
NM_014363.6(SACS):c.11257A>G (p.Arg3753Gly) rs1883560944
NM_014363.6(SACS):c.11258G>A (p.Arg3753Lys)
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs) rs1400601705
NM_014363.6(SACS):c.11271C>T (p.Asn3757=)
NM_014363.6(SACS):c.11272A>G (p.Ile3758Val)
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet)
NM_014363.6(SACS):c.11277G>A (p.Thr3759=)
NM_014363.6(SACS):c.11291A>C (p.Glu3764Ala) rs1593122374
NM_014363.6(SACS):c.11296G>A (p.Val3766Ile)
NM_014363.6(SACS):c.1129A>G (p.Ile377Val)
NM_014363.6(SACS):c.11304T>C (p.Thr3768=) rs2137567832
NM_014363.6(SACS):c.11310A>G (p.Ala3770=) rs1438596591
NM_014363.6(SACS):c.11316C>T (p.Val3772=) rs768744922
NM_014363.6(SACS):c.11317T>C (p.Leu3773=) rs1194302679
NM_014363.6(SACS):c.11319_11321del (p.Arg3774del) rs1883553503
NM_014363.6(SACS):c.1131T>C (p.Ile377=) rs2137724827
NM_014363.6(SACS):c.11323A>G (p.Ser3775Gly)
NM_014363.6(SACS):c.11326A>G (p.Ile3776Val) rs770269690
NM_014363.6(SACS):c.11334A>G (p.Glu3778=)
NM_014363.6(SACS):c.11335T>A (p.Phe3779Ile)
NM_014363.6(SACS):c.11346A>C (p.Ala3782=)
NM_014363.6(SACS):c.11350A>G (p.Lys3784Glu)
NM_014363.6(SACS):c.11356del (p.Glu3786fs)
NM_014363.6(SACS):c.11358A>G (p.Glu3786=)
NM_014363.6(SACS):c.11371T>A (p.Leu3791Met)
NM_014363.6(SACS):c.11373G>A (p.Leu3791=) rs1883545757
NM_014363.6(SACS):c.11373dup (p.Arg3792fs) rs1555249904
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter) rs565203731
NM_014363.6(SACS):c.11375G>A (p.Arg3792Gln)
NM_014363.6(SACS):c.11376A>C (p.Arg3792=) rs1883544819
NM_014363.6(SACS):c.11376A>G (p.Arg3792=) rs1883544819
NM_014363.6(SACS):c.11379G>A (p.Gly3793=)
NM_014363.6(SACS):c.11379G>C (p.Gly3793=) rs754896709
NM_014363.6(SACS):c.1137A>G (p.Leu379=)
NM_014363.6(SACS):c.1137dup (p.Glu380fs) rs1057516987
NM_014363.6(SACS):c.11392A>G (p.Met3798Val)
NM_014363.6(SACS):c.11392A>T (p.Met3798Leu)
NM_014363.6(SACS):c.1139_1143del (p.Glu380fs)
NM_014363.6(SACS):c.11402A>G (p.Asp3801Gly)
NM_014363.6(SACS):c.11406T>C (p.Gly3802=)
NM_014363.6(SACS):c.11421G>A (p.Lys3807=) rs2137566698
NM_014363.6(SACS):c.11427G>A (p.Glu3809=) rs2137566654
NM_014363.6(SACS):c.11430G>A (p.Glu3810=)
NM_014363.6(SACS):c.11436C>T (p.Val3812=) rs1440717272
NM_014363.6(SACS):c.1143G>A (p.Glu381=)
NM_014363.6(SACS):c.11445A>G (p.Leu3815=)
NM_014363.6(SACS):c.11451T>A (p.Tyr3817Ter)
NM_014363.6(SACS):c.11452G>T (p.Glu3818Ter)
NM_014363.6(SACS):c.11454A>G (p.Glu3818=)
NM_014363.6(SACS):c.11457T>C (p.Ser3819=)
NM_014363.6(SACS):c.11467C>A (p.Pro3823Thr) rs1883537654
NM_014363.6(SACS):c.11473T>C (p.Leu3825=) rs2137566282
NM_014363.6(SACS):c.11478C>T (p.Tyr3826=)
NM_014363.6(SACS):c.11482C>T (p.Leu3828=)
NM_014363.6(SACS):c.11488T>A (p.Leu3830Ile)
NM_014363.6(SACS):c.11500A>G (p.Thr3834Ala)
NM_014363.6(SACS):c.11501C>T (p.Thr3834Ile)
NM_014363.6(SACS):c.11506_11521del (p.His3836fs) rs1555249878
NM_014363.6(SACS):c.11514G>A (p.Leu3838=) rs2137565976
NM_014363.6(SACS):c.11517C>G (p.Phe3839Leu)
NM_014363.6(SACS):c.11519A>G (p.Lys3840Arg)
NM_014363.6(SACS):c.11522A>G (p.His3841Arg)
NM_014363.6(SACS):c.1152T>C (p.Thr384=)
NM_014363.6(SACS):c.1153A>G (p.Lys385Glu) rs1281714392
NM_014363.6(SACS):c.11540T>C (p.Ile3847Thr)
NM_014363.6(SACS):c.11559T>C (p.Tyr3853=) rs2137565554
NM_014363.6(SACS):c.1155G>A (p.Lys385=) rs1489092168
NM_014363.6(SACS):c.11568G>C (p.Val3856=) rs758545212
NM_014363.6(SACS):c.11571G>A (p.Leu3857=) rs1335896880
NM_014363.6(SACS):c.11575C>T (p.Arg3859Cys)
NM_014363.6(SACS):c.11576G>T (p.Arg3859Leu)
NM_014363.6(SACS):c.11578A>G (p.Ile3860Val)
NM_014363.6(SACS):c.11592T>G (p.Ser3864=) rs2137565300
NM_014363.6(SACS):c.11593G>C (p.Glu3865Gln)
NM_014363.6(SACS):c.11598C>A (p.Gly3866=) rs2137565223
NM_014363.6(SACS):c.11606T>A (p.Leu3869Ter) rs2137565163
NM_014363.6(SACS):c.11619A>G (p.Glu3873=) rs2137565097
NM_014363.6(SACS):c.11628A>C (p.Thr3876=) rs2137565004
NM_014363.6(SACS):c.11634dup (p.Arg3879fs)
NM_014363.6(SACS):c.11640A>G (p.Val3880=)
NM_014363.6(SACS):c.11652G>A (p.Leu3884=)
NM_014363.6(SACS):c.11652G>C (p.Leu3884=)
NM_014363.6(SACS):c.11652G>T (p.Leu3884=) rs560937205
NM_014363.6(SACS):c.11665C>T (p.Gln3889Ter)
NM_014363.6(SACS):c.11674dup (p.Ser3892fs) rs2137564626
NM_014363.6(SACS):c.11679C>T (p.Val3893=) rs755241961
NM_014363.6(SACS):c.1167A>G (p.Lys389=) rs2137724548
NM_014363.6(SACS):c.11681A>G (p.Lys3894Arg)
NM_014363.6(SACS):c.11684T>A (p.Val3895Glu)
NM_014363.6(SACS):c.11693A>G (p.Asp3898Gly)
NM_014363.6(SACS):c.11697C>G (p.Leu3899=) rs767957360
NM_014363.6(SACS):c.11708G>A (p.Arg3903Gln)
NM_014363.6(SACS):c.1170A>C (p.Thr390=)
NM_014363.6(SACS):c.11712C>T (p.Asp3904=) rs1593121789
NM_014363.6(SACS):c.11715T>C (p.Leu3905=) rs1593121777
NM_014363.6(SACS):c.11718G>A (p.Ala3906=) rs373803461
NM_014363.6(SACS):c.11724C>G (p.Tyr3908Ter) rs745740932
NM_014363.6(SACS):c.11727C>T (p.Leu3909=)
NM_014363.6(SACS):c.11739T>C (p.Asp3913=)
NM_014363.6(SACS):c.1173T>A (p.Ser391=) rs150683286
NM_014363.6(SACS):c.1173T>G (p.Ser391=)
NM_014363.6(SACS):c.11748G>A (p.Leu3916=) rs2137563945
NM_014363.6(SACS):c.11749G>A (p.Val3917Ile)
NM_014363.6(SACS):c.11766A>G (p.Leu3922=) rs1593121687
NM_014363.6(SACS):c.11774A>T (p.Asp3925Val)
NM_014363.6(SACS):c.11778T>C (p.Asp3926=) rs750575268
NM_014363.6(SACS):c.11787T>C (p.His3929=)
NM_014363.6(SACS):c.11792A>G (p.Lys3931Arg) rs764554878
NM_014363.6(SACS):c.11808G>T (p.Gly3936=)
NM_014363.6(SACS):c.11814T>C (p.Ile3938=)
NM_014363.6(SACS):c.11848del (p.Tyr3950fs) rs2137563478
NM_014363.6(SACS):c.11856G>A (p.Gly3952=) rs2137563341
NM_014363.6(SACS):c.11865T>C (p.His3955=)
NM_014363.6(SACS):c.1186A>G (p.Asn396Asp)
NM_014363.6(SACS):c.11877T>C (p.Thr3959=)
NM_014363.6(SACS):c.1189A>G (p.Ser397Gly)
NM_014363.6(SACS):c.1189dup (p.Ser397fs)
NM_014363.6(SACS):c.11907T>C (p.Leu3969=)
NM_014363.6(SACS):c.11907_11930delinsA (p.Arg3970fs) rs1593121507
NM_014363.6(SACS):c.11913T>G (p.Pro3971=)
NM_014363.6(SACS):c.11914C>T (p.Arg3972Ter) rs781491486
NM_014363.6(SACS):c.11915G>A (p.Arg3972Gln)
NM_014363.6(SACS):c.11916A>G (p.Arg3972=) rs2137562654
NM_014363.6(SACS):c.11919A>G (p.Leu3973=)
NM_014363.6(SACS):c.1191T>C (p.Ser397=)
NM_014363.6(SACS):c.11925C>T (p.Ser3975=)
NM_014363.6(SACS):c.11931A>T (p.Ile3977=)
NM_014363.6(SACS):c.11940A>G (p.Glu3980=)
NM_014363.6(SACS):c.11941C>T (p.Gln3981Ter) rs1593121484
NM_014363.6(SACS):c.11944T>C (p.Leu3982=) rs2137562392
NM_014363.6(SACS):c.11946A>G (p.Leu3982=)
NM_014363.6(SACS):c.11958T>A (p.Thr3986=)
NM_014363.6(SACS):c.11963A>G (p.Lys3988Arg) rs1883502413
NM_014363.6(SACS):c.11965G>T (p.Val3989Phe)
NM_014363.6(SACS):c.11981C>T (p.Ala3994Val)
NM_014363.6(SACS):c.11990C>T (p.Ser3997Phe)
NM_014363.6(SACS):c.11991T>C (p.Ser3997=) rs2137562156
NM_014363.6(SACS):c.11997A>G (p.Gln3999=)
NM_014363.6(SACS):c.12000A>G (p.Gly4000=)
NM_014363.6(SACS):c.12001A>C (p.Arg4001=)
NM_014363.6(SACS):c.12004T>C (p.Leu4002=) rs773165834
NM_014363.6(SACS):c.12007C>T (p.Gln4003Ter)
NM_014363.6(SACS):c.12009G>A (p.Gln4003=)
NM_014363.6(SACS):c.12025G>A (p.Glu4009Lys) rs990358595
NM_014363.6(SACS):c.12039A>C (p.Thr4013=) rs2137561682
NM_014363.6(SACS):c.12039A>G (p.Thr4013=)
NM_014363.6(SACS):c.12042A>G (p.Gly4014=)
NM_014363.6(SACS):c.12045G>C (p.Leu4015=) rs2137561646
NM_014363.6(SACS):c.1204G>C (p.Gly402Arg)
NM_014363.6(SACS):c.12053T>C (p.Ile4018Thr)
NM_014363.6(SACS):c.12055A>G (p.Met4019Val)
NM_014363.6(SACS):c.12058A>T (p.Lys4020Ter)
NM_014363.6(SACS):c.12060G>A (p.Lys4020=) rs2137561471
NM_014363.6(SACS):c.12063T>C (p.His4021=) rs886050074
NM_014363.6(SACS):c.12069T>C (p.Asn4023=) rs747474648
NM_014363.6(SACS):c.12073A>G (p.Asn4025Asp) rs1883495382
NM_014363.6(SACS):c.12078T>A (p.Ala4026=) rs1259730258
NM_014363.6(SACS):c.12087C>T (p.Ala4029=)
NM_014363.6(SACS):c.12089del (p.Asn4030fs)
NM_014363.6(SACS):c.12099A>G (p.Lys4033=) rs753090825
NM_014363.6(SACS):c.12099A>T (p.Lys4033Asn)
NM_014363.6(SACS):c.12102C>G (p.Ala4034=) rs1359075857
NM_014363.6(SACS):c.12103A>G (p.Ile4035Val)
NM_014363.6(SACS):c.12106A>T (p.Arg4036Ter) rs2137561134
NM_014363.6(SACS):c.12114C>T (p.Cys4038=) rs774322849
NM_014363.6(SACS):c.12121C>T (p.Leu4041=)
NM_014363.6(SACS):c.12123A>G (p.Leu4041=)
NM_014363.6(SACS):c.12126A>G (p.Arg4042=)
NM_014363.6(SACS):c.1212T>C (p.Ser404=) rs1320045340
NM_014363.6(SACS):c.12156G>A (p.Lys4052=) rs1231366855
NM_014363.6(SACS):c.1215T>C (p.Ser405=)
NM_014363.6(SACS):c.12162A>G (p.Gln4054=) rs1593121184
NM_014363.6(SACS):c.12167C>A (p.Thr4056Lys)
NM_014363.6(SACS):c.12168A>G (p.Thr4056=) rs2137560796
NM_014363.6(SACS):c.12169T>C (p.Leu4057=)
NM_014363.6(SACS):c.12172A>G (p.Arg4058Gly)
NM_014363.6(SACS):c.12175G>A (p.Val4059Ile)
NM_014363.6(SACS):c.12186T>C (p.Phe4062=) rs2137560600
NM_014363.6(SACS):c.12190C>T (p.Pro4064Ser)
NM_014363.6(SACS):c.12193A>G (p.Ile4065Val)
NM_014363.6(SACS):c.12205A>C (p.Arg4069=) rs772628731
NM_014363.6(SACS):c.12218_12219del (p.Phe4073fs) rs1555249648
NM_014363.6(SACS):c.12219T>C (p.Phe4073=) rs1007835171
NM_014363.6(SACS):c.12231G>A (p.Lys4077=) rs1355094261
NM_014363.6(SACS):c.12232C>A (p.Arg4078=) rs141315518
NM_014363.6(SACS):c.12232C>G (p.Arg4078Gly)
NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter) rs141315518
NM_014363.6(SACS):c.12233G>A (p.Arg4078Gln)
NM_014363.6(SACS):c.12233G>C (p.Arg4078Pro)
NM_014363.6(SACS):c.12242A>G (p.Asn4081Ser) rs1060503432
NM_014363.6(SACS):c.12243T>C (p.Asn4081=) rs1566056564
NM_014363.6(SACS):c.12261C>T (p.Tyr4087=)
NM_014363.6(SACS):c.1226_1227del (p.Ser409fs)
NM_014363.6(SACS):c.1227T>C (p.Ser409=) rs2137723941
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs) rs1057516365
NM_014363.6(SACS):c.1229T>A (p.Leu410Ter)
NM_014363.6(SACS):c.12309A>T (p.Ala4103=)
NM_014363.6(SACS):c.12315T>G (p.Thr4105=)
NM_014363.6(SACS):c.12318T>C (p.Leu4106=) rs2137559627
NM_014363.6(SACS):c.12324A>G (p.Ser4108=)
NM_014363.6(SACS):c.12326C>A (p.Ala4109Glu) rs2137559516
NM_014363.6(SACS):c.12328A>G (p.Thr4110Ala)
NM_014363.6(SACS):c.12333C>T (p.Asp4111=) rs2137559475
NM_014363.6(SACS):c.12335A>G (p.Asn4112Ser)
NM_014363.6(SACS):c.12336T>C (p.Asn4112=)
NM_014363.6(SACS):c.12345T>C (p.Ser4115=)
NM_014363.6(SACS):c.12345T>G (p.Ser4115=)
NM_014363.6(SACS):c.12348C>T (p.Asp4116=) rs2137559335
NM_014363.6(SACS):c.12351T>C (p.Thr4117=)
NM_014363.6(SACS):c.12354A>G (p.Ser4118=) rs149691102
NM_014363.6(SACS):c.12358T>G (p.Leu4120Val)
NM_014363.6(SACS):c.12361A>C (p.Ile4121Leu)
NM_014363.6(SACS):c.12375A>T (p.Gly4125=) rs1436419066
NM_014363.6(SACS):c.12379A>G (p.Asn4127Asp)
NM_014363.6(SACS):c.12380A>G (p.Asn4127Ser)
NM_014363.6(SACS):c.12387T>A (p.Ile4129=)
NM_014363.6(SACS):c.12390C>T (p.Tyr4130=)
NM_014363.6(SACS):c.12399T>C (p.Gly4133=) rs2137558935
NM_014363.6(SACS):c.12404A>G (p.Lys4135Arg)
NM_014363.6(SACS):c.1240C>T (p.Leu414=) rs765155455
NM_014363.6(SACS):c.12413G>A (p.Ser4138Asn)
NM_014363.6(SACS):c.12416dup (p.Leu4139fs)
NM_014363.6(SACS):c.12420A>G (p.Gly4140=)
NM_014363.6(SACS):c.12434C>G (p.Ser4145Cys)
NM_014363.6(SACS):c.12435T>C (p.Ser4145=)
NM_014363.6(SACS):c.12437C>T (p.Ser4146Leu)
NM_014363.6(SACS):c.12441G>A (p.Glu4147=) rs1342375376
NM_014363.6(SACS):c.12446C>G (p.Ser4149Ter)
NM_014363.6(SACS):c.12456A>G (p.Glu4152=)
NM_014363.6(SACS):c.12466C>T (p.Pro4156Ser)
NM_014363.6(SACS):c.12471C>T (p.Gly4157=)
NM_014363.6(SACS):c.12474A>C (p.Thr4158=)
NM_014363.6(SACS):c.12477A>T (p.Pro4159=) rs2137558251
NM_014363.6(SACS):c.12492T>A (p.Ile4164=)
NM_014363.6(SACS):c.12498C>T (p.Tyr4166=) rs2137558150
NM_014363.6(SACS):c.12507T>C (p.Leu4169=) rs1883464496
NM_014363.6(SACS):c.12532C>T (p.Pro4178Ser)
NM_014363.6(SACS):c.12533C>A (p.Pro4178Gln)
NM_014363.6(SACS):c.12533C>T (p.Pro4178Leu)
NM_014363.6(SACS):c.12534G>A (p.Pro4178=)
NM_014363.6(SACS):c.12534G>T (p.Pro4178=) rs765128892
NM_014363.6(SACS):c.12536del (p.Gly4179fs) rs2137557859
NM_014363.6(SACS):c.12540A>G (p.Glu4180=)
NM_014363.6(SACS):c.12549G>A (p.Gly4183=)
NM_014363.6(SACS):c.1254A>G (p.Pro418=) rs750585737
NM_014363.6(SACS):c.12552C>T (p.Tyr4184=)
NM_014363.6(SACS):c.1256del (p.Ile419fs)
NM_014363.6(SACS):c.12576T>C (p.Asp4192=) rs2137557517
NM_014363.6(SACS):c.12577A>G (p.Ile4193Val)
NM_014363.6(SACS):c.12578T>A (p.Ile4193Asn)
NM_014363.6(SACS):c.12588A>G (p.Ser4196=)
NM_014363.6(SACS):c.12589T>C (p.Tyr4197His)
NM_014363.6(SACS):c.12603C>A (p.Tyr4201Ter)
NM_014363.6(SACS):c.12609T>C (p.Tyr4203=) rs1446053286
NM_014363.6(SACS):c.12612A>G (p.Ala4204=) rs2137557183
NM_014363.6(SACS):c.12613A>G (p.Ile4205Val)
NM_014363.6(SACS):c.12618T>C (p.Ile4206=) rs1883457103
NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter) rs1555249555
NM_014363.6(SACS):c.12627A>G (p.Glu4209=)
NM_014363.6(SACS):c.12640G>A (p.Asp4214Asn)
NM_014363.6(SACS):c.1264A>G (p.Ile422Val)
NM_014363.6(SACS):c.12650A>G (p.Asn4217Ser)
NM_014363.6(SACS):c.12661C>T (p.Leu4221=) rs767622491
NM_014363.6(SACS):c.12673_12677del (p.Tyr4225fs)
NM_014363.6(SACS):c.12677A>T (p.Gln4226Leu)
NM_014363.6(SACS):c.12678G>A (p.Gln4226=)
NM_014363.6(SACS):c.12682G>A (p.Asp4228Asn)
NM_014363.6(SACS):c.12682G>C (p.Asp4228His) rs1447327391
NM_014363.6(SACS):c.12686T>C (p.Ile4229Thr)
NM_014363.6(SACS):c.12693T>C (p.Tyr4231=) rs1163399365
NM_014363.6(SACS):c.12702T>C (p.Tyr4234=) rs907197100
NM_014363.6(SACS):c.12710_12713del (p.Val4237fs)
NM_014363.6(SACS):c.12714C>T (p.Ser4238=) rs1883449068
NM_014363.6(SACS):c.12717T>C (p.Ser4239=) rs2137556175
NM_014363.6(SACS):c.12736del (p.Ser4246fs)
NM_014363.6(SACS):c.12738A>G (p.Ser4246=)
NM_014363.6(SACS):c.12741A>G (p.Arg4247=)
NM_014363.6(SACS):c.12753C>T (p.Ser4251=) rs1247851946
NM_014363.6(SACS):c.12757C>T (p.Gln4253Ter)
NM_014363.6(SACS):c.12766del (p.Asp4256fs) rs1555249479
NM_014363.6(SACS):c.12775C>G (p.Pro4259Ala)
NM_014363.6(SACS):c.12775C>T (p.Pro4259Ser)
NM_014363.6(SACS):c.12777T>C (p.Pro4259=)
NM_014363.6(SACS):c.12777T>G (p.Pro4259=)
NM_014363.6(SACS):c.12778T>C (p.Ser4260Pro)
NM_014363.6(SACS):c.12779C>G (p.Ser4260Cys)
NM_014363.6(SACS):c.12780T>C (p.Ser4260=)
NM_014363.6(SACS):c.12783A>G (p.Thr4261=) rs2137555437
NM_014363.6(SACS):c.12787A>C (p.Thr4263Pro)
NM_014363.6(SACS):c.12787A>G (p.Thr4263Ala)
NM_014363.6(SACS):c.12789C>A (p.Thr4263=)
NM_014363.6(SACS):c.12789C>T (p.Thr4263=)
NM_014363.6(SACS):c.1278A>G (p.Leu426=)
NM_014363.6(SACS):c.12807C>T (p.Leu4269=)
NM_014363.6(SACS):c.12809C>T (p.Thr4270Ile)
NM_014363.6(SACS):c.12810C>T (p.Thr4270=) rs1286784591
NM_014363.6(SACS):c.12811C>T (p.Pro4271Ser)
NM_014363.6(SACS):c.12812C>T (p.Pro4271Leu) rs779668584
NM_014363.6(SACS):c.12813T>C (p.Pro4271=)
NM_014363.6(SACS):c.12818T>G (p.Leu4273Arg)
NM_014363.6(SACS):c.1281A>T (p.Ser427=)
NM_014363.6(SACS):c.12820A>G (p.Arg4274Gly) rs1566055596
NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser) rs370655945
NM_014363.6(SACS):c.12835_12836del (p.Leu4279fs) rs1555249425
NM_014363.6(SACS):c.12839_12843del (p.Phe4280fs)
NM_014363.6(SACS):c.12839del (p.Phe4280fs) rs1197238841
NM_014363.6(SACS):c.12849A>G (p.Arg4283=)
NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs) rs786204628
NM_014363.6(SACS):c.12863C>T (p.Thr4288Ile)
NM_014363.6(SACS):c.12866C>A (p.Ser4289Tyr)
NM_014363.6(SACS):c.12867T>C (p.Ser4289=) rs2137554119
NM_014363.6(SACS):c.12873A>G (p.Lys4291=) rs2137554075
NM_014363.6(SACS):c.12875A>C (p.His4292Pro)
NM_014363.6(SACS):c.12884C>A (p.Pro4295His)
NM_014363.6(SACS):c.12884C>T (p.Pro4295Leu) rs781029021
NM_014363.6(SACS):c.12885C>A (p.Pro4295=)
NM_014363.6(SACS):c.12885C>G (p.Pro4295=)
NM_014363.6(SACS):c.12885C>T (p.Pro4295=)
NM_014363.6(SACS):c.12885dup (p.Lys4296fs) rs2137553918
NM_014363.6(SACS):c.12894T>G (p.Leu4298=)
NM_014363.6(SACS):c.12896A>G (p.Lys4299Arg)
NM_014363.6(SACS):c.12902A>G (p.Asn4301Ser)
NM_014363.6(SACS):c.12905C>A (p.Ser4302Tyr) rs778808568
NM_014363.6(SACS):c.12908T>A (p.Leu4303Ter) rs1566055368
NM_014363.6(SACS):c.1290T>C (p.Asp430=) rs1194352705
NM_014363.6(SACS):c.12916A>G (p.Ile4306Val)
NM_014363.6(SACS):c.12921A>G (p.Leu4307=) rs2137553613
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs) rs1057517294
NM_014363.6(SACS):c.12927A>G (p.Glu4309=) rs1211000585
NM_014363.6(SACS):c.12934_12935delinsAA (p.Ser4312Asn)
NM_014363.6(SACS):c.12951A>G (p.Ala4317=) rs1258695869
NM_014363.6(SACS):c.12953G>A (p.Trp4318Ter)
NM_014363.6(SACS):c.12954G>A (p.Trp4318Ter) rs2137553245
NM_014363.6(SACS):c.12966A>G (p.Glu4322=) rs2137553118
NM_014363.6(SACS):c.12969G>T (p.Ser4323=)
NM_014363.6(SACS):c.12974G>A (p.Arg4325Gln)
NM_014363.6(SACS):c.12975A>G (p.Arg4325=) rs1883424394
NM_014363.6(SACS):c.12980del (p.Lys4327fs) rs1555249371
NM_014363.6(SACS):c.12984T>A (p.Ile4328=)
NM_014363.6(SACS):c.12993G>T (p.Arg4331=)
NM_014363.6(SACS):c.13009C>G (p.His4337Asp) rs1555249362
NM_014363.6(SACS):c.13024C>T (p.Pro4342Ser)
NM_014363.6(SACS):c.13025C>T (p.Pro4342Leu)
NM_014363.6(SACS):c.1302A>G (p.Lys434=) rs2137723320
NM_014363.6(SACS):c.13039A>C (p.Ile4347Leu)
NM_014363.6(SACS):c.13042dup (p.Ala4348fs) rs2137552236
NM_014363.6(SACS):c.13046A>G (p.Asn4349Ser)
NM_014363.6(SACS):c.1305A>G (p.Gly435=)
NM_014363.6(SACS):c.13063T>C (p.Leu4355=) rs1883419699
NM_014363.6(SACS):c.13064del (p.Leu4355fs) rs2137552117
NM_014363.6(SACS):c.13077C>A (p.Ile4359=)
NM_014363.6(SACS):c.13079A>T (p.Asn4360Ile)
NM_014363.6(SACS):c.13080C>T (p.Asn4360=)
NM_014363.6(SACS):c.13085T>A (p.Leu4362Ter) rs774995570
NM_014363.6(SACS):c.13092A>G (p.Lys4364=) rs1478206117
NM_014363.6(SACS):c.13101T>C (p.Phe4367=)
NM_014363.6(SACS):c.13107T>C (p.Asp4369=) rs1445233565
NM_014363.6(SACS):c.1310C>G (p.Thr437Arg) rs199657817
NM_014363.6(SACS):c.13110A>G (p.Gln4370=) rs1593119713
NM_014363.6(SACS):c.13116A>C (p.Ala4372=)
NM_014363.6(SACS):c.13122G>C (p.Arg4374Ser) rs2137551679
NM_014363.6(SACS):c.13132C>T (p.Arg4378Ter) rs747868017
NM_014363.6(SACS):c.13133G>A (p.Arg4378Gln)
NM_014363.6(SACS):c.13143A>G (p.Ser4381=)
NM_014363.6(SACS):c.13146C>T (p.Thr4382=)
NM_014363.6(SACS):c.13157G>A (p.Arg4386Gln)
NM_014363.6(SACS):c.13160T>A (p.Phe4387Tyr)
NM_014363.6(SACS):c.13164G>A (p.Gln4388=) rs751944796
NM_014363.6(SACS):c.13165T>G (p.Ser4389Ala) rs2137551379
NM_014363.6(SACS):c.13176C>G (p.Tyr4392Ter) rs1285760809
NM_014363.6(SACS):c.13176C>T (p.Tyr4392=) rs1285760809
NM_014363.6(SACS):c.13191C>T (p.Phe4397=) rs758008743
NM_014363.6(SACS):c.13208_13209del (p.Gln4403fs) rs2137550994
NM_014363.6(SACS):c.1320C>T (p.Phe440=)
NM_014363.6(SACS):c.13214C>T (p.Ala4405Val) rs1300062381
NM_014363.6(SACS):c.13217C>T (p.Thr4406Met)
NM_014363.6(SACS):c.13225A>G (p.Lys4409Glu) rs775817492
NM_014363.6(SACS):c.13226A>G (p.Lys4409Arg)
NM_014363.6(SACS):c.13227A>G (p.Lys4409=) rs745934269
NM_014363.6(SACS):c.13233A>C (p.Glu4411Asp)
NM_014363.6(SACS):c.13233A>G (p.Glu4411=)
NM_014363.6(SACS):c.13236A>G (p.Arg4412=) rs1883407579
NM_014363.6(SACS):c.13236_13239del (p.Arg4412fs)
NM_014363.6(SACS):c.13238A>G (p.Gln4413Arg)
NM_014363.6(SACS):c.13244A>G (p.Gln4415Arg)
NM_014363.6(SACS):c.13245G>A (p.Gln4415=)
NM_014363.6(SACS):c.13248C>T (p.Asn4416=) rs2137550538
NM_014363.6(SACS):c.13252_13253del (p.Glu4418fs) rs1883405453
NM_014363.6(SACS):c.13259G>T (p.Cys4420Phe)
NM_014363.6(SACS):c.13270G>C (p.Ala4424Pro)
NM_014363.6(SACS):c.13271C>T (p.Ala4424Val) rs1883403045
NM_014363.6(SACS):c.13276C>T (p.Gln4426Ter) rs1555249276
NM_014363.6(SACS):c.13278G>A (p.Gln4426=)
NM_014363.6(SACS):c.13281_13282delinsAG (p.Tyr4428Asp)
NM_014363.6(SACS):c.13283dup (p.Tyr4428Ter) rs1057517123
NM_014363.6(SACS):c.13286C>G (p.Ser4429Cys) rs765818580
NM_014363.6(SACS):c.13287T>C (p.Ser4429=)
NM_014363.6(SACS):c.13292G>T (p.Arg4431Met)
NM_014363.6(SACS):c.13293G>A (p.Arg4431=)
NM_014363.6(SACS):c.13299T>C (p.Phe4433=) rs1883399448
NM_014363.6(SACS):c.13304C>T (p.Pro4435Leu)
NM_014363.6(SACS):c.13305T>C (p.Pro4435=) rs2137549857
NM_014363.6(SACS):c.13308C>A (p.Pro4436=)
NM_014363.6(SACS):c.13316A>G (p.Lys4439Arg)
NM_014363.6(SACS):c.13319C>T (p.Ser4440Leu)
NM_014363.6(SACS):c.13320G>A (p.Ser4440=) rs759847087
NM_014363.6(SACS):c.13320G>C (p.Ser4440=) rs759847087
NM_014363.6(SACS):c.13320G>T (p.Ser4440=)
NM_014363.6(SACS):c.1332A>G (p.Ala444=) rs1039811925
NM_014363.6(SACS):c.13341A>G (p.Ala4447=)
NM_014363.6(SACS):c.13342C>T (p.Arg4448Cys)
NM_014363.6(SACS):c.13342del (p.Arg4448fs) rs2137549635
NM_014363.6(SACS):c.13343G>A (p.Arg4448His)
NM_014363.6(SACS):c.13352T>C (p.Leu4451Pro)
NM_014363.6(SACS):c.13353A>G (p.Leu4451=)
NM_014363.6(SACS):c.13378_13379delinsTA (p.Ala4460Tyr) rs1566054479
NM_014363.6(SACS):c.13379C>G (p.Ala4460Gly)
NM_014363.6(SACS):c.13380T>A (p.Ala4460=)
NM_014363.6(SACS):c.13386G>A (p.Arg4462=)
NM_014363.6(SACS):c.13391A>T (p.Asp4464Val) rs1883393913
NM_014363.6(SACS):c.13397A>G (p.His4466Arg)
NM_014363.6(SACS):c.13409A>G (p.Asn4470Ser) rs757326594
NM_014363.6(SACS):c.13414dup (p.Trp4472fs)
NM_014363.6(SACS):c.13415G>A (p.Trp4472Ter)
NM_014363.6(SACS):c.13422C>T (p.Cys4474=)
NM_014363.6(SACS):c.13464T>C (p.Ala4488=) rs2137548841
NM_014363.6(SACS):c.13467C>T (p.Asp4489=)
NM_014363.6(SACS):c.1346del (p.Pro449fs)
NM_014363.6(SACS):c.13473T>C (p.Ala4491=) rs2137548744
NM_014363.6(SACS):c.13474G>A (p.Val4492Met) rs774647600
NM_014363.6(SACS):c.13476G>A (p.Val4492=) rs370362235
NM_014363.6(SACS):c.13482A>C (p.Gly4494=) rs200439163
NM_014363.6(SACS):c.13487_13488del (p.Lys4495_Ser4496insTer)
NM_014363.6(SACS):c.13500A>G (p.Val4500=) rs2137548578
NM_014363.6(SACS):c.13503A>C (p.Lys4501Asn)
NM_014363.6(SACS):c.13526T>C (p.Ile4509Thr)
NM_014363.6(SACS):c.13530G>A (p.Glu4510=)
NM_014363.6(SACS):c.13533A>G (p.Glu4511=) rs1593119019
NM_014363.6(SACS):c.13542G>A (p.Gln4514=)
NM_014363.6(SACS):c.13545A>G (p.Gln4515=) rs1356049808
NM_014363.6(SACS):c.13557G>C (p.Leu4519=) rs2137548197
NM_014363.6(SACS):c.13563T>C (p.Asn4521=) rs766497653
NM_014363.6(SACS):c.13569T>C (p.Val4523=) rs2137548112
NM_014363.6(SACS):c.13573A>G (p.Thr4525Ala)
NM_014363.6(SACS):c.13575A>G (p.Thr4525=) rs2137548032
NM_014363.6(SACS):c.13575A>T (p.Thr4525=) rs2137548032
NM_014363.6(SACS):c.13587T>C (p.Tyr4529=)
NM_014363.6(SACS):c.1358del (p.Gly453fs) rs2137722808
NM_014363.6(SACS):c.13590T>G (p.Gly4530=)
NM_014363.6(SACS):c.13597A>G (p.Ser4533Gly)
NM_014363.6(SACS):c.13600T>C (p.Leu4534=)
NM_014363.6(SACS):c.13610G>A (p.Arg4537Lys)
NM_014363.6(SACS):c.13614C>A (p.Tyr4538Ter) rs927804920
NM_014363.6(SACS):c.13614C>T (p.Tyr4538=) rs927804920
NM_014363.6(SACS):c.13618G>A (p.Asp4540Asn)
NM_014363.6(SACS):c.13629C>G (p.Pro4543=) rs749846446
NM_014363.6(SACS):c.1363G>A (p.Glu455Lys)
NM_014363.6(SACS):c.13668T>C (p.Val4556=) rs2137547645
NM_014363.6(SACS):c.13671T>A (p.Ala4557=) rs2137547633
NM_014363.6(SACS):c.13672A>G (p.Met4558Val)
NM_014363.6(SACS):c.13674G>A (p.Met4558Ile)
NM_014363.6(SACS):c.13680G>T (p.Val4560=) rs2137547578
NM_014363.6(SACS):c.13686A>G (p.Glu4562=) rs780522946
NM_014363.6(SACS):c.13699A>G (p.Ile4567Val)
NM_014363.6(SACS):c.1369A>G (p.Ser457Gly)
NM_014363.6(SACS):c.13704A>C (p.Ile4568=) rs1304752867
NM_014363.6(SACS):c.1370_1371dup (p.Thr458fs) rs765667160
NM_014363.6(SACS):c.13713T>A (p.Leu4571=)
NM_014363.6(SACS):c.13716A>G (p.Glu4572=)
NM_014363.6(SACS):c.13722T>C (p.Phe4574=)
NM_014363.6(SACS):c.13723A>T (p.Met4575Leu)
NM_014363.6(SACS):c.13725G>A (p.Met4575Ile)
NM_014363.6(SACS):c.13734A>G (p.Lys4578=)
NM_014363.6(SACS):c.13737G>A (p.Val4579=) rs761855750
NM_014363.6(SACS):c.13738_13739del (p.Ter4580LysextTer?) rs776682685
NM_014363.6(SACS):c.1380C>T (p.Leu460=)
NM_014363.6(SACS):c.1391T>G (p.Ile464Ser) rs1593144937
NM_014363.6(SACS):c.1392C>T (p.Ile464=)
NM_014363.6(SACS):c.1393A>G (p.Ser465Gly)
NM_014363.6(SACS):c.1406G>A (p.Gly469Asp)
NM_014363.6(SACS):c.1428C>T (p.Ser476=) rs1870274256
NM_014363.6(SACS):c.1434A>G (p.Lys478=) rs1593144899
NM_014363.6(SACS):c.1441G>T (p.Glu481Ter) rs1593144887
NM_014363.6(SACS):c.1443G>A (p.Glu481=) rs1020930335
NM_014363.6(SACS):c.1458A>G (p.Arg486=) rs2137722075
NM_014363.6(SACS):c.1467A>G (p.Ala489=)
NM_014363.6(SACS):c.1479T>C (p.Asn493=)
NM_014363.6(SACS):c.1497T>C (p.Asn499=) rs1285415188
NM_014363.6(SACS):c.1498G>A (p.Val500Ile) rs1244967438
NM_014363.6(SACS):c.1503C>T (p.Val501=)
NM_014363.6(SACS):c.1507A>G (p.Lys503Glu)
NM_014363.6(SACS):c.1510G>A (p.Ala504Thr)
NM_014363.6(SACS):c.1512T>C (p.Ala504=)
NM_014363.6(SACS):c.1515T>C (p.Tyr505=)
NM_014363.6(SACS):c.1521T>G (p.Thr507=) rs751762471
NM_014363.6(SACS):c.1522C>T (p.Leu508=) rs2137721558
NM_014363.6(SACS):c.1525A>G (p.Ile509Val) rs1566080067
NM_014363.6(SACS):c.1528T>C (p.Leu510=) rs2137721505
NM_014363.6(SACS):c.1530A>G (p.Leu510=)
NM_014363.6(SACS):c.1531_1532insT (p.Asp511fs)
NM_014363.6(SACS):c.1533T>C (p.Asp511=) rs778011175
NM_014363.6(SACS):c.1537A>G (p.Ile513Val)
NM_014363.6(SACS):c.1542dup (p.Arg515fs) rs2137721367
NM_014363.6(SACS):c.1543C>T (p.Arg515Cys)
NM_014363.6(SACS):c.1544G>A (p.Arg515His)
NM_014363.6(SACS):c.1546C>G (p.Leu516Val)
NM_014363.6(SACS):c.1546C>T (p.Leu516=)
NM_014363.6(SACS):c.1551G>A (p.Glu517=)
NM_014363.6(SACS):c.1555del (p.Glu519fs) rs2137721150
NM_014363.6(SACS):c.1560G>C (p.Lys520Asn)
NM_014363.6(SACS):c.1563C>T (p.Ser521=)
NM_014363.6(SACS):c.1566T>C (p.Ser522=)
NM_014363.6(SACS):c.1566T>G (p.Ser522=) rs1203606581
NM_014363.6(SACS):c.1575C>G (p.Pro525=) rs2137720978
NM_014363.6(SACS):c.1576T>C (p.Leu526=)
NM_014363.6(SACS):c.1581A>G (p.Ser527=)
NM_014363.6(SACS):c.1590T>C (p.Val530=) rs2137720859
NM_014363.6(SACS):c.1592T>C (p.Ile531Thr)
NM_014363.6(SACS):c.1599G>A (p.Lys533=) rs2137720717
NM_014363.6(SACS):c.15G>A (p.Glu5=)
NM_014363.6(SACS):c.1600C>G (p.Leu534Val)
NM_014363.6(SACS):c.1617C>T (p.Ser539=)
NM_014363.6(SACS):c.1620del (p.Val541fs)
NM_014363.6(SACS):c.1625A>C (p.Lys542Thr)
NM_014363.6(SACS):c.1627del (p.Val543fs) rs1870251884
NM_014363.6(SACS):c.1638A>G (p.Gln546=) rs755389972
NM_014363.6(SACS):c.1643T>C (p.Val548Ala)
NM_014363.6(SACS):c.1647A>G (p.Leu549=) rs942512596
NM_014363.6(SACS):c.1647dup (p.Glu550fs)
NM_014363.6(SACS):c.1650G>A (p.Glu550=)
NM_014363.6(SACS):c.1654C>G (p.Leu552Val)
NM_014363.6(SACS):c.1654C>T (p.Leu552=)
NM_014363.6(SACS):c.1659C>G (p.Phe553Leu)
NM_014363.6(SACS):c.1662C>A (p.Ser554Arg)
NM_014363.6(SACS):c.1662C>T (p.Ser554=) rs185812845
NM_014363.6(SACS):c.1672C>G (p.Gln558Glu)
NM_014363.6(SACS):c.1672C>T (p.Gln558Ter) rs923921184
NM_014363.6(SACS):c.1675A>G (p.Asn559Asp)
NM_014363.6(SACS):c.1693A>C (p.Ile565Leu) rs772240153
NM_014363.6(SACS):c.1693A>G (p.Ile565Val)
NM_014363.6(SACS):c.1693del (p.Ile565fs)
NM_014363.6(SACS):c.1701T>G (p.Cys567Trp)
NM_014363.6(SACS):c.1702G>A (p.Asp568Asn)
NM_014363.6(SACS):c.1705_1706del (p.Trp569fs) rs2137719772
NM_014363.6(SACS):c.1706G>A (p.Trp569Ter) rs1555254256
NM_014363.6(SACS):c.1707G>A (p.Trp569Ter) rs1593144544
NM_014363.6(SACS):c.1710C>T (p.Val570=)
NM_014363.6(SACS):c.172-11C>A
NM_014363.6(SACS):c.172-11C>T
NM_014363.6(SACS):c.172-12G>T
NM_014363.6(SACS):c.172-18T>G
NM_014363.6(SACS):c.172-20T>G
NM_014363.6(SACS):c.172-4del rs922771267
NM_014363.6(SACS):c.172-4dup
NM_014363.6(SACS):c.172-8T>C rs2137815970
NM_014363.6(SACS):c.1720C>T (p.Gln574Ter)
NM_014363.6(SACS):c.1734A>G (p.Ser578=)
NM_014363.6(SACS):c.1752del (p.Glu585fs) rs2137719240
NM_014363.6(SACS):c.1760C>G (p.Thr587Arg)
NM_014363.6(SACS):c.1761A>G (p.Thr587=) rs2137719149
NM_014363.6(SACS):c.1769_1770del (p.Val590fs) rs1383333220
NM_014363.6(SACS):c.1773C>T (p.Leu591=) rs759498792
NM_014363.6(SACS):c.1775A>G (p.Asn592Ser)
NM_014363.6(SACS):c.1779C>T (p.Tyr593=)
NM_014363.6(SACS):c.177T>G (p.Ser59=)
NM_014363.6(SACS):c.1783C>T (p.Gln595Ter) rs2137718900
NM_014363.6(SACS):c.1791A>G (p.Ser597=) rs371175405
NM_014363.6(SACS):c.1794G>A (p.Gly598=) rs1184294805
NM_014363.6(SACS):c.1794G>C (p.Gly598=) rs1184294805
NM_014363.6(SACS):c.1806C>T (p.Ala602=)
NM_014363.6(SACS):c.1807A>G (p.Lys603Glu) rs983822008
NM_014363.6(SACS):c.1812A>G (p.Val604=) rs2137718559
NM_014363.6(SACS):c.1818G>A (p.Gly606=)
NM_014363.6(SACS):c.1828G>A (p.Ala610Thr)
NM_014363.6(SACS):c.1829C>T (p.Ala610Val)
NM_014363.6(SACS):c.1830T>C (p.Ala610=)
NM_014363.6(SACS):c.1833T>A (p.Ala611=) rs780001448
NM_014363.6(SACS):c.1833T>C (p.Ala611=) rs780001448
NM_014363.6(SACS):c.1842C>T (p.Leu614=) rs781774809
NM_014363.6(SACS):c.1844_1845del (p.Thr615fs) rs2137718161
NM_014363.6(SACS):c.1853C>T (p.Ser618Phe)
NM_014363.6(SACS):c.1864C>T (p.Pro622Ser)
NM_014363.6(SACS):c.1866T>A (p.Pro622=)
NM_014363.6(SACS):c.186C>T (p.Ile62=) rs2137815857
NM_014363.6(SACS):c.1872G>A (p.Arg624=)
NM_014363.6(SACS):c.1878G>A (p.Val626=)
NM_014363.6(SACS):c.187A>T (p.Lys63Ter) rs1593157923
NM_014363.6(SACS):c.1880C>T (p.Thr627Met)
NM_014363.6(SACS):c.1881G>C (p.Thr627=)
NM_014363.6(SACS):c.1887G>A (p.Ala629=) rs772895627
NM_014363.6(SACS):c.1887G>C (p.Ala629=)
NM_014363.6(SACS):c.1893G>A (p.Val631=)
NM_014363.6(SACS):c.1894C>A (p.Arg632=)
NM_014363.6(SACS):c.1894C>T (p.Arg632Trp)
NM_014363.6(SACS):c.18C>T (p.Asn6=) rs2137962175
NM_014363.6(SACS):c.1908G>A (p.Arg636=) rs758017143
NM_014363.6(SACS):c.1911G>A (p.Lys637=)
NM_014363.6(SACS):c.1914T>C (p.Cys638=)
NM_014363.6(SACS):c.1920C>T (p.His640=) rs1870214029
NM_014363.6(SACS):c.1923G>C (p.Leu641=)
NM_014363.6(SACS):c.193G>A (p.Gly65Arg)
NM_014363.6(SACS):c.1940del (p.Lys647fs) rs1593144167
NM_014363.6(SACS):c.1947C>T (p.His649=)
NM_014363.6(SACS):c.194G>A (p.Gly65Glu)
NM_014363.6(SACS):c.1950T>C (p.Leu650=) rs2137717099
NM_014363.6(SACS):c.1956A>G (p.Glu652=)
NM_014363.6(SACS):c.1972C>T (p.Gln658Ter) rs1238606214
NM_014363.6(SACS):c.1977C>G (p.Ala659=) rs2137716894
NM_014363.6(SACS):c.1981A>G (p.Ser661Gly)
NM_014363.6(SACS):c.1989G>T (p.Leu663=) rs942220473
NM_014363.6(SACS):c.1992T>G (p.Leu664=)
NM_014363.6(SACS):c.20+13A>G
NM_014363.6(SACS):c.20+18T>C
NM_014363.6(SACS):c.20+19dup
NM_014363.6(SACS):c.20+7G>T
NM_014363.6(SACS):c.20+9G>A rs749087846
NM_014363.6(SACS):c.2004G>T (p.Leu668=)
NM_014363.6(SACS):c.2016A>G (p.Gln672=)
NM_014363.6(SACS):c.2019T>C (p.Asn673=)
NM_014363.6(SACS):c.201G>C (p.Leu67=)
NM_014363.6(SACS):c.2028T>C (p.Phe676=)
NM_014363.6(SACS):c.2031C>G (p.Val677=)
NM_014363.6(SACS):c.2034C>A (p.Pro678=) rs772289878
NM_014363.6(SACS):c.2034C>T (p.Pro678=) rs772289878
NM_014363.6(SACS):c.2034dup (p.Phe679fs)
NM_014363.6(SACS):c.2043A>C (p.Ser681=)
NM_014363.6(SACS):c.2043A>G (p.Ser681=)
NM_014363.6(SACS):c.204T>A (p.Thr68=)
NM_014363.6(SACS):c.205T>G (p.Ser69Ala)
NM_014363.6(SACS):c.2062G>A (p.Val688Ile)
NM_014363.6(SACS):c.2064C>T (p.Val688=) rs2137716067
NM_014363.6(SACS):c.2066T>C (p.Ile689Thr)
NM_014363.6(SACS):c.2075C>A (p.Thr692Asn)
NM_014363.6(SACS):c.2076C>T (p.Thr692=)
NM_014363.6(SACS):c.207C>T (p.Ser69=) rs2137815615
NM_014363.6(SACS):c.2085A>G (p.Glu695=) rs1381278603
NM_014363.6(SACS):c.2093+19A>G
NM_014363.6(SACS):c.2093+7G>T
NM_014363.6(SACS):c.2093+8T>G
NM_014363.6(SACS):c.2093+9C>A rs1870192787
NM_014363.6(SACS):c.2093+9C>T
NM_014363.6(SACS):c.2094-10C>G
NM_014363.6(SACS):c.2094-12_2094-11dup
NM_014363.6(SACS):c.2094-14C>T rs886038601
NM_014363.6(SACS):c.2094-8C>T rs1870138596
NM_014363.6(SACS):c.2094-9C>T rs1870138747
NM_014363.6(SACS):c.2097C>T (p.Ser699=)
NM_014363.6(SACS):c.2106A>G (p.Pro702=)
NM_014363.6(SACS):c.210A>G (p.Lys70=) rs2137815590
NM_014363.6(SACS):c.2112T>C (p.Leu704=) rs1870135106
NM_014363.6(SACS):c.2112T>G (p.Leu704=)
NM_014363.6(SACS):c.2115A>G (p.Glu705=) rs2137710672
NM_014363.6(SACS):c.2123T>A (p.Phe708Tyr)
NM_014363.6(SACS):c.2125A>G (p.Ile709Val)
NM_014363.6(SACS):c.2132A>G (p.Asp711Gly)
NM_014363.6(SACS):c.2136C>T (p.Asn712=)
NM_014363.6(SACS):c.2145T>G (p.Pro715=) rs1870132046
NM_014363.6(SACS):c.2149C>T (p.Leu717Phe)
NM_014363.6(SACS):c.2156C>T (p.Ala719Val)
NM_014363.6(SACS):c.2163A>G (p.Leu721=) rs1471003728
NM_014363.6(SACS):c.2175C>T (p.Ala725=) rs756363296
NM_014363.6(SACS):c.2176C>A (p.Gln726Lys)
NM_014363.6(SACS):c.2180C>G (p.Thr727Ser)
NM_014363.6(SACS):c.2181C>T (p.Thr727=)
NM_014363.6(SACS):c.2182C>G (p.Arg728Gly) rs752059006
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014363.6(SACS):c.2185+18T>C
NM_014363.6(SACS):c.2185+8A>G rs1870126120
NM_014363.6(SACS):c.2185+9G>A rs2137709802
NM_014363.6(SACS):c.2186-15G>A
NM_014363.6(SACS):c.2186-15G>C
NM_014363.6(SACS):c.2186-18T>G
NM_014363.6(SACS):c.2186-19T>G
NM_014363.6(SACS):c.2186-6T>C rs2137646278
NM_014363.6(SACS):c.2186-7T>C
NM_014363.6(SACS):c.2186-8A>G rs2137646308
NM_014363.6(SACS):c.2202G>A (p.Gln734=)
NM_014363.6(SACS):c.2203C>T (p.Leu735=) rs1462906765
NM_014363.6(SACS):c.2212C>T (p.Leu738=) rs2137646064
NM_014363.6(SACS):c.2220A>C (p.Pro740=)
NM_014363.6(SACS):c.2220A>G (p.Pro740=) rs772849329
NM_014363.6(SACS):c.2220A>T (p.Pro740=) rs772849329
NM_014363.6(SACS):c.2223A>G (p.Glu741=) rs1203567131
NM_014363.6(SACS):c.2224C>T (p.Arg742Ter) rs1057517285
NM_014363.6(SACS):c.2232A>C (p.Ala744=)
NM_014363.6(SACS):c.2233C>A (p.Arg745Ser)
NM_014363.6(SACS):c.2233_2235delinsTTC (p.Arg745Phe) rs1869237949
NM_014363.6(SACS):c.2240T>C (p.Ile747Thr)
NM_014363.6(SACS):c.2244G>A (p.Lys748=)
NM_014363.6(SACS):c.2247A>G (p.Glu749=)
NM_014363.6(SACS):c.2274A>G (p.Arg758=)
NM_014363.6(SACS):c.2280G>A (p.Leu760=) rs2137645428
NM_014363.6(SACS):c.2281_2284del (p.Ile761fs) rs2137645390
NM_014363.6(SACS):c.2295T>C (p.Tyr765=) rs2137645257
NM_014363.6(SACS):c.2298A>G (p.Pro766=)
NM_014363.6(SACS):c.2312G>T (p.Arg771Ile) rs2137645196
NM_014363.6(SACS):c.2315A>C (p.Asn772Thr)
NM_014363.6(SACS):c.2316T>C (p.Asn772=) rs2137645108
NM_014363.6(SACS):c.2322A>G (p.Pro774=) rs1869225328
NM_014363.6(SACS):c.2340G>A (p.Lys780=)
NM_014363.6(SACS):c.2344G>T (p.Val782Phe)
NM_014363.6(SACS):c.2346T>C (p.Val782=) rs1353395473
NM_014363.6(SACS):c.2352A>G (p.Lys784=) rs2137644764
NM_014363.6(SACS):c.2356C>A (p.Leu786Ile) rs267603782
NM_014363.6(SACS):c.2358T>G (p.Leu786=)
NM_014363.6(SACS):c.2360A>G (p.Tyr787Cys)
NM_014363.6(SACS):c.2373A>G (p.Ser791=) rs2137644572
NM_014363.6(SACS):c.2382G>A (p.Leu794=)
NM_014363.6(SACS):c.2404C>T (p.Leu802Phe) rs1869215579
NM_014363.6(SACS):c.2414G>C (p.Arg805Thr)
NM_014363.6(SACS):c.2419A>G (p.Ile807Val)
NM_014363.6(SACS):c.2422C>T (p.Leu808=)
NM_014363.6(SACS):c.2425G>C (p.Glu809Gln)
NM_014363.6(SACS):c.2427G>A (p.Glu809=) rs878854978
NM_014363.6(SACS):c.2428del (p.Glu810fs)
NM_014363.6(SACS):c.2432G>A (p.Gly811Asp)
NM_014363.6(SACS):c.2437A>G (p.Thr813Ala)
NM_014363.6(SACS):c.2451del (p.Ile818fs) rs2137643958
NM_014363.6(SACS):c.2458C>T (p.Leu820Phe)
NM_014363.6(SACS):c.2460C>G (p.Leu820=) rs761330691
NM_014363.6(SACS):c.2469A>G (p.Pro823=)
NM_014363.6(SACS):c.2475A>G (p.Leu825=)
NM_014363.6(SACS):c.2478C>G (p.Val826=) rs2137643652
NM_014363.6(SACS):c.247T>C (p.Leu83=) rs1470292816
NM_014363.6(SACS):c.2488G>C (p.Asp830His)
NM_014363.6(SACS):c.2490T>C (p.Asp830=) rs1486997377
NM_014363.6(SACS):c.2511A>G (p.Pro837=)
NM_014363.6(SACS):c.2524G>C (p.Asp842His)
NM_014363.6(SACS):c.2532A>T (p.Val844=) rs756542648
NM_014363.6(SACS):c.2534A>G (p.Gln845Arg)
NM_014363.6(SACS):c.2538A>G (p.Lys846=) rs1869196715
NM_014363.6(SACS):c.2548T>C (p.Phe850Leu)
NM_014363.6(SACS):c.2563T>C (p.Leu855=)
NM_014363.6(SACS):c.2565A>C (p.Leu855Phe)
NM_014363.6(SACS):c.2572T>G (p.Ser858Ala)
NM_014363.6(SACS):c.2573C>T (p.Ser858Phe)
NM_014363.6(SACS):c.2574T>G (p.Ser858=)
NM_014363.6(SACS):c.2575A>G (p.Ile859Val)
NM_014363.6(SACS):c.2578C>T (p.Gln860Ter) rs76194641
NM_014363.6(SACS):c.2583T>C (p.His861=) rs2137642719
NM_014363.6(SACS):c.259+10T>G
NM_014363.6(SACS):c.259+19C>G
NM_014363.6(SACS):c.2599T>C (p.Tyr867His) rs774682589
NM_014363.6(SACS):c.260-13C>T
NM_014363.6(SACS):c.260-18A>T
NM_014363.6(SACS):c.260-19_260-18del
NM_014363.6(SACS):c.260-7A>G
NM_014363.6(SACS):c.2613A>G (p.Pro871=) rs2137642425
NM_014363.6(SACS):c.2616A>G (p.Leu872=) rs1869187977
NM_014363.6(SACS):c.2619A>G (p.Pro873=)
NM_014363.6(SACS):c.261T>A (p.Gly87=) rs2137800346
NM_014363.6(SACS):c.2621G>A (p.Ser874Asn)
NM_014363.6(SACS):c.262C>T (p.Arg88Ter) rs1555255676
NM_014363.6(SACS):c.263G>A (p.Arg88Gln)
NM_014363.6(SACS):c.2649G>A (p.Met883Ile)
NM_014363.6(SACS):c.264A>G (p.Arg88=)
NM_014363.6(SACS):c.2652A>T (p.Pro884=) rs751143652
NM_014363.6(SACS):c.2655G>A (p.Leu885=) rs2137642005
NM_014363.6(SACS):c.2656C>T (p.Gln886Ter)
NM_014363.6(SACS):c.2658G>A (p.Gln886=)
NM_014363.6(SACS):c.2658G>T (p.Gln886His)
NM_014363.6(SACS):c.2661A>G (p.Lys887=) rs2137641940
NM_014363.6(SACS):c.2662T>C (p.Leu888=) rs1212223678
NM_014363.6(SACS):c.2664G>A (p.Leu888=)
NM_014363.6(SACS):c.2670T>C (p.Asn890=)
NM_014363.6(SACS):c.2682G>T (p.Ser894=) rs369958174
NM_014363.6(SACS):c.2683C>T (p.Leu895=)
NM_014363.6(SACS):c.2691A>G (p.Pro897=) rs2137641711
NM_014363.6(SACS):c.2695C>A (p.His899Asn)
NM_014363.6(SACS):c.2695C>G (p.His899Asp)
NM_014363.6(SACS):c.2699_2700del (p.Lys900fs) rs1167474602
NM_014363.6(SACS):c.270T>G (p.Gly90=)
NM_014363.6(SACS):c.2713A>T (p.Lys905Ter) rs1593133714
NM_014363.6(SACS):c.2734G>A (p.Asp912Asn)
NM_014363.6(SACS):c.2755del (p.Arg919fs) rs2137641201
NM_014363.6(SACS):c.2759T>C (p.Ile920Thr)
NM_014363.6(SACS):c.2770T>C (p.Leu924=) rs1869169717
NM_014363.6(SACS):c.2775_2776del (p.Phe927fs) rs1593133607
NM_014363.6(SACS):c.277A>G (p.Thr93Ala)
NM_014363.6(SACS):c.2786G>A (p.Arg929His)
NM_014363.6(SACS):c.2786G>T (p.Arg929Leu)
NM_014363.6(SACS):c.2787C>T (p.Arg929=)
NM_014363.6(SACS):c.278C>T (p.Thr93Met)
NM_014363.6(SACS):c.2799T>C (p.Ser933=)
NM_014363.6(SACS):c.2801C>T (p.Ser934Phe)
NM_014363.6(SACS):c.2812A>G (p.Ile938Val)
NM_014363.6(SACS):c.2814T>C (p.Ile938=) rs909826115
NM_014363.6(SACS):c.2817C>G (p.Ser939=)
NM_014363.6(SACS):c.2820T>G (p.Ser940=)
NM_014363.6(SACS):c.2823T>C (p.Tyr941=) rs2137640553
NM_014363.6(SACS):c.2825C>T (p.Thr942Ile)
NM_014363.6(SACS):c.2826A>C (p.Thr942=)
NM_014363.6(SACS):c.2828A>C (p.Lys943Thr)
NM_014363.6(SACS):c.2847C>T (p.Val949=) rs750136982
NM_014363.6(SACS):c.2851C>A (p.His951Asn)
NM_014363.6(SACS):c.2851C>G (p.His951Asp)
NM_014363.6(SACS):c.2851C>T (p.His951Tyr)
NM_014363.6(SACS):c.2854C>T (p.His952Tyr)
NM_014363.6(SACS):c.285A>G (p.Pro95=)
NM_014363.6(SACS):c.2881C>T (p.Arg961Ter) rs1593133395
NM_014363.6(SACS):c.2883A>G (p.Arg961=) rs2137639984
NM_014363.6(SACS):c.288T>C (p.Leu96=) rs1593155706
NM_014363.6(SACS):c.2890A>G (p.Ile964Val)
NM_014363.6(SACS):c.2895A>G (p.Ser965=)
NM_014363.6(SACS):c.2900T>C (p.Ile967Thr)
NM_014363.6(SACS):c.2903_2906del (p.Asp968fs) rs1259615333
NM_014363.6(SACS):c.2904C>T (p.Asp968=) rs149585868
NM_014363.6(SACS):c.2906G>A (p.Ser969Asn)
NM_014363.6(SACS):c.2912A>G (p.Asp971Gly)
NM_014363.6(SACS):c.2918C>G (p.Ala973Gly)
NM_014363.6(SACS):c.2919T>C (p.Ala973=)
NM_014363.6(SACS):c.291T>G (p.Val97=)
NM_014363.6(SACS):c.2923A>G (p.Ile975Val)
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser) rs139993038
NM_014363.6(SACS):c.2926C>T (p.Arg976Cys) rs139993038
NM_014363.6(SACS):c.2936A>G (p.Asn979Ser)
NM_014363.6(SACS):c.2938A>C (p.Met980Leu)
NM_014363.6(SACS):c.2947A>G (p.Ile983Val)
NM_014363.6(SACS):c.2950G>T (p.Glu984Ter) rs1869146335
NM_014363.6(SACS):c.2958A>G (p.Leu986=) rs1310471595
NM_014363.6(SACS):c.2964C>G (p.Thr988=) rs2137639334
NM_014363.6(SACS):c.2974T>C (p.Leu992=) rs2137639266
NM_014363.6(SACS):c.297dup (p.Leu100fs)
NM_014363.6(SACS):c.2982T>C (p.Leu994=)
NM_014363.6(SACS):c.2987T>G (p.Leu996Ter) rs1450257625
NM_014363.6(SACS):c.2996T>G (p.Ile999Ser)
NM_014363.6(SACS):c.3005_3006insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGATATTGAAAATGC (p.Ala1002_Phe1003insAlaGlyArgGlyGlySerArgLeuTer) rs2137639039
NM_014363.6(SACS):c.3018T>A (p.His1006Gln)
NM_014363.6(SACS):c.3029_3030insTTAC (p.Gln1011fs)
NM_014363.6(SACS):c.3054G>A (p.Glu1018=)
NM_014363.6(SACS):c.3055A>G (p.Asn1019Asp) rs1566071225
NM_014363.6(SACS):c.3060A>C (p.Leu1020=) rs746764976
NM_014363.6(SACS):c.3063T>G (p.Ser1021=)
NM_014363.6(SACS):c.306C>T (p.Asp102=)
NM_014363.6(SACS):c.3082C>G (p.Pro1028Ala)
NM_014363.6(SACS):c.3082C>T (p.Pro1028Ser)
NM_014363.6(SACS):c.3083C>T (p.Pro1028Leu)
NM_014363.6(SACS):c.3094G>T (p.Glu1032Ter) rs1272702356
NM_014363.6(SACS):c.3108A>G (p.Pro1036=)
NM_014363.6(SACS):c.3109T>C (p.Leu1037=)
NM_014363.6(SACS):c.3120C>T (p.Ile1040=)
NM_014363.6(SACS):c.3126A>T (p.Ile1042=)
NM_014363.6(SACS):c.3130C>T (p.Gln1044Ter)
NM_014363.6(SACS):c.313A>C (p.Arg105=)
NM_014363.6(SACS):c.3142G>A (p.Val1048Ile)
NM_014363.6(SACS):c.3144A>T (p.Val1048=) rs3751369
NM_014363.6(SACS):c.314G>A (p.Arg105Lys)
NM_014363.6(SACS):c.3156A>G (p.Glu1052=)
NM_014363.6(SACS):c.3159C>G (p.Leu1053=)
NM_014363.6(SACS):c.3165C>T (p.Asp1055=) rs1178311878
NM_014363.6(SACS):c.3181C>T (p.Leu1061=)
NM_014363.6(SACS):c.3186G>A (p.Lys1062=) rs2137637701
NM_014363.6(SACS):c.3193T>C (p.Phe1065Leu)
NM_014363.6(SACS):c.3195T>C (p.Phe1065=)
NM_014363.6(SACS):c.3197G>T (p.Cys1066Phe)
NM_014363.6(SACS):c.3200A>G (p.Asn1067Ser)
NM_014363.6(SACS):c.3210A>G (p.Gly1070=) rs2137637430
NM_014363.6(SACS):c.3213C>G (p.Thr1071=)
NM_014363.6(SACS):c.321T>A (p.Tyr107Ter)
NM_014363.6(SACS):c.3224C>T (p.Pro1075Leu)
NM_014363.6(SACS):c.3235dup (p.Thr1079fs)
NM_014363.6(SACS):c.3237C>T (p.Thr1079=)
NM_014363.6(SACS):c.3240A>C (p.Ser1080=)
NM_014363.6(SACS):c.3243A>G (p.Pro1081=) rs2137637229
NM_014363.6(SACS):c.3248T>C (p.Ile1083Thr)
NM_014363.6(SACS):c.3255C>T (p.His1085=) rs1593132908
NM_014363.6(SACS):c.3258C>T (p.Ser1086=) rs1593132899
NM_014363.6(SACS):c.3270T>C (p.Ile1090=)
NM_014363.6(SACS):c.327A>G (p.Glu109=) rs1285304667
NM_014363.6(SACS):c.3281dup (p.Asn1094fs) rs2137636957
NM_014363.6(SACS):c.3283G>A (p.Glu1095Lys)
NM_014363.6(SACS):c.3294C>T (p.Leu1098=) rs1208321395
NM_014363.6(SACS):c.3304G>A (p.Asp1102Asn)
NM_014363.6(SACS):c.3306T>C (p.Asp1102=) rs759288724
NM_014363.6(SACS):c.3309T>C (p.Val1103=) rs2137636612
NM_014363.6(SACS):c.3309dup (p.Val1104fs) rs2137636629
NM_014363.6(SACS):c.3312G>T (p.Val1104=) rs2137636594
NM_014363.6(SACS):c.3321A>C (p.Ala1107=) rs1224754869
NM_014363.6(SACS):c.3328del (p.Ile1110fs)
NM_014363.6(SACS):c.3328dup (p.Ile1110fs) rs770866403
NM_014363.6(SACS):c.3329T>C (p.Ile1110Thr) rs1869108945
NM_014363.6(SACS):c.3336C>T (p.Ala1112=)
NM_014363.6(SACS):c.3339A>G (p.Leu1113=) rs773184162
NM_014363.6(SACS):c.3343dup (p.Val1115fs) rs2137636328
NM_014363.6(SACS):c.3347G>T (p.Gly1116Val)
NM_014363.6(SACS):c.3356del (p.Pro1119fs) rs1057517039
NM_014363.6(SACS):c.3357T>C (p.Pro1119=)
NM_014363.6(SACS):c.3370C>T (p.Leu1124Phe)
NM_014363.6(SACS):c.3375G>A (p.Leu1125=)
NM_014363.6(SACS):c.3390C>T (p.Thr1130=) rs1017213900
NM_014363.6(SACS):c.3391C>G (p.Leu1131Val)
NM_014363.6(SACS):c.3396A>T (p.Leu1132Phe)
NM_014363.6(SACS):c.3396dup (p.Leu1133fs)
NM_014363.6(SACS):c.3401T>C (p.Val1134Ala)
NM_014363.6(SACS):c.3426G>A (p.Leu1142=)
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys) rs144267558
NM_014363.6(SACS):c.3427C>G (p.Gln1143Glu)
NM_014363.6(SACS):c.3429A>G (p.Gln1143=) rs1869096503
NM_014363.6(SACS):c.3443A>G (p.Lys1148Arg)
NM_014363.6(SACS):c.345+10_345+11del rs2137799720
NM_014363.6(SACS):c.345+14C>G
NM_014363.6(SACS):c.345+15G>A
NM_014363.6(SACS):c.345+15G>T
NM_014363.6(SACS):c.345+17G>A
NM_014363.6(SACS):c.345+20C>G
NM_014363.6(SACS):c.345+6dup
NM_014363.6(SACS):c.345+7C>T
NM_014363.6(SACS):c.345+8A>C rs2137799749
NM_014363.6(SACS):c.3451T>C (p.Leu1151=) rs2137635256
NM_014363.6(SACS):c.346-13del
NM_014363.6(SACS):c.346-15A>G
NM_014363.6(SACS):c.346-15_346-4del
NM_014363.6(SACS):c.346-17G>A rs1417113507
NM_014363.6(SACS):c.346-17G>T
NM_014363.6(SACS):c.346-19del rs200011804
NM_014363.6(SACS):c.346-19dup
NM_014363.6(SACS):c.346-5G>A rs80258644
NM_014363.6(SACS):c.3462A>C (p.Ile1154=) rs2137635207
NM_014363.6(SACS):c.3464A>C (p.Lys1155Thr)
NM_014363.6(SACS):c.3465A>G (p.Lys1155=)
NM_014363.6(SACS):c.3472C>T (p.Pro1158Ser)
NM_014363.6(SACS):c.3484G>T (p.Glu1162Ter) rs1246013998
NM_014363.6(SACS):c.3486A>G (p.Glu1162=)
NM_014363.6(SACS):c.3492T>C (p.Pro1164=)
NM_014363.6(SACS):c.3501T>C (p.Tyr1167=) rs2137634940
NM_014363.6(SACS):c.3504A>C (p.Pro1168=)
NM_014363.6(SACS):c.3504A>G (p.Pro1168=) rs201762114
NM_014363.6(SACS):c.350del (p.Glu116_Leu117insTer)
NM_014363.6(SACS):c.3511T>C (p.Leu1171=)
NM_014363.6(SACS):c.3513G>A (p.Leu1171=) rs1254853262
NM_014363.6(SACS):c.3522A>G (p.Lys1174=)
NM_014363.6(SACS):c.3531C>T (p.Leu1177=) rs2137634680
NM_014363.6(SACS):c.3548C>T (p.Pro1183Leu)
NM_014363.6(SACS):c.3549A>C (p.Pro1183=)
NM_014363.6(SACS):c.3550C>A (p.Pro1184Thr)
NM_014363.6(SACS):c.3564T>C (p.Asp1188=)
NM_014363.6(SACS):c.3569G>C (p.Gly1190Ala)
NM_014363.6(SACS):c.3571C>T (p.His1191Tyr)
NM_014363.6(SACS):c.3577A>G (p.Ile1193Val)
NM_014363.6(SACS):c.357G>A (p.Gln119=) rs2137782233
NM_014363.6(SACS):c.3582C>T (p.Leu1194=)
NM_014363.6(SACS):c.3583A>G (p.Ile1195Val)
NM_014363.6(SACS):c.3591C>T (p.Ser1197=) rs141920204
NM_014363.6(SACS):c.360T>C (p.Asn120=)
NM_014363.6(SACS):c.3612T>C (p.Ser1204=) rs2137633912
NM_014363.6(SACS):c.3616C>T (p.His1206Tyr)
NM_014363.6(SACS):c.3617A>G (p.His1206Arg)
NM_014363.6(SACS):c.3624C>T (p.Asn1208=) rs2137633783
NM_014363.6(SACS):c.3625C>T (p.Leu1209=)
NM_014363.6(SACS):c.363A>G (p.Ala121=) rs2137782203
NM_014363.6(SACS):c.3641G>A (p.Gly1214Glu)
NM_014363.6(SACS):c.3642G>A (p.Gly1214=)
NM_014363.6(SACS):c.3645C>T (p.Ile1215=)
NM_014363.6(SACS):c.3650C>G (p.Thr1217Arg)
NM_014363.6(SACS):c.3666T>C (p.Ser1222=) rs370248518
NM_014363.6(SACS):c.3669T>C (p.Ala1223=)
NM_014363.6(SACS):c.367G>T (p.Asp123Tyr)
NM_014363.6(SACS):c.3684T>C (p.Phe1228=)
NM_014363.6(SACS):c.3689TTG[2] (p.Val1232del)
NM_014363.6(SACS):c.3691G>C (p.Val1231Leu)
NM_014363.6(SACS):c.3693T>C (p.Val1231=) rs1593132311
NM_014363.6(SACS):c.3699T>C (p.Asp1233=)
NM_014363.6(SACS):c.3702G>A (p.Trp1234Ter)
NM_014363.6(SACS):c.3703T>C (p.Tyr1235His)
NM_014363.6(SACS):c.3729A>C (p.Glu1243Asp)
NM_014363.6(SACS):c.372T>G (p.Ala124=) rs2137782128
NM_014363.6(SACS):c.3732C>T (p.Asp1244=) rs1369858587
NM_014363.6(SACS):c.3734A>G (p.Tyr1245Cys)
NM_014363.6(SACS):c.3739C>A (p.Gln1247Lys) rs1869063828
NM_014363.6(SACS):c.374G>C (p.Gly125Ala)
NM_014363.6(SACS):c.3769G>A (p.Gly1257Arg)
NM_014363.6(SACS):c.3774C>A (p.Phe1258Leu)
NM_014363.6(SACS):c.3778C>G (p.His1260Asp)
NM_014363.6(SACS):c.3778C>T (p.His1260Tyr)
NM_014363.6(SACS):c.377C>G (p.Ala126Gly) rs1476132092
NM_014363.6(SACS):c.3780T>C (p.His1260=) rs2137632626
NM_014363.6(SACS):c.3783T>C (p.Asp1261=)
NM_014363.6(SACS):c.378G>A (p.Ala126=) rs574747100
NM_014363.6(SACS):c.378G>T (p.Ala126=) rs574747100
NM_014363.6(SACS):c.3797G>A (p.Gly1266Glu)
NM_014363.6(SACS):c.3798G>T (p.Gly1266=)
NM_014363.6(SACS):c.3810T>C (p.Phe1270=)
NM_014363.6(SACS):c.3814G>A (p.Ala1272Thr)
NM_014363.6(SACS):c.3816C>G (p.Ala1272=) rs2137632367
NM_014363.6(SACS):c.3822A>G (p.Lys1274=)
NM_014363.6(SACS):c.382_383del (p.Glu128fs) rs757179309
NM_014363.6(SACS):c.3830G>A (p.Trp1277Ter)
NM_014363.6(SACS):c.3832G>A (p.Val1278Ile)
NM_014363.6(SACS):c.3832del (p.Val1278fs)
NM_014363.6(SACS):c.3836G>A (p.Trp1279Ter) rs756963289
NM_014363.6(SACS):c.3840T>A (p.Thr1280=) rs1319754110
NM_014363.6(SACS):c.3840T>G (p.Thr1280=)
NM_014363.6(SACS):c.3849G>A (p.Lys1283=)
NM_014363.6(SACS):c.3849G>C (p.Lys1283Asn)
NM_014363.6(SACS):c.3857C>T (p.Pro1286Leu)
NM_014363.6(SACS):c.3858A>G (p.Pro1286=)
NM_014363.6(SACS):c.3864C>T (p.Ala1288=) rs2137631977
NM_014363.6(SACS):c.3873G>T (p.Val1291=)
NM_014363.6(SACS):c.3876T>C (p.Ile1292=)
NM_014363.6(SACS):c.3886C>G (p.His1296Asp)
NM_014363.6(SACS):c.3909T>C (p.Tyr1303=) rs765281722
NM_014363.6(SACS):c.3912G>A (p.Leu1304=) rs753675356
NM_014363.6(SACS):c.3912G>T (p.Leu1304Phe)
NM_014363.6(SACS):c.3915T>C (p.His1305=) rs767598017
NM_014363.6(SACS):c.3917A>G (p.Asn1306Ser)
NM_014363.6(SACS):c.3930C>A (p.Thr1310=) rs1593132012
NM_014363.6(SACS):c.3948A>G (p.Gln1316=)
NM_014363.6(SACS):c.3949C>T (p.Leu1317=)
NM_014363.6(SACS):c.394T>C (p.Leu132=) rs553107347
NM_014363.6(SACS):c.394T>G (p.Leu132Val)
NM_014363.6(SACS):c.3963T>C (p.Cys1321=)
NM_014363.6(SACS):c.3970A>G (p.Ile1324Val)
NM_014363.6(SACS):c.3971T>C (p.Ile1324Thr)
NM_014363.6(SACS):c.397T>C (p.Tyr133His)
NM_014363.6(SACS):c.3991C>A (p.His1331Asn)
NM_014363.6(SACS):c.399T>C (p.Tyr133=) rs755837406
NM_014363.6(SACS):c.4003G>A (p.Val1335Ile)
NM_014363.6(SACS):c.4011G>A (p.Gln1337=)
NM_014363.6(SACS):c.4018T>C (p.Tyr1340His)
NM_014363.6(SACS):c.4025A>G (p.Lys1342Arg)
NM_014363.6(SACS):c.402T>C (p.Asp134=) rs1870988230
NM_014363.6(SACS):c.4036G>C (p.Asp1346His) rs753529923
NM_014363.6(SACS):c.4038T>C (p.Asp1346=) rs2137630805
NM_014363.6(SACS):c.4069C>A (p.His1357Asn)
NM_014363.6(SACS):c.4095G>A (p.Trp1365Ter) rs1057516779
NM_014363.6(SACS):c.4098G>T (p.Leu1366=)
NM_014363.6(SACS):c.4107T>C (p.Asn1369=) rs2137630300
NM_014363.6(SACS):c.410_411del (p.Gln137fs)
NM_014363.6(SACS):c.4113T>A (p.Ile1371=) rs1395418477
NM_014363.6(SACS):c.4114C>A (p.Pro1372Thr)
NM_014363.6(SACS):c.4117_4118delinsCT (p.Ala1373Leu) rs797045938
NM_014363.6(SACS):c.4117_4118delinsTA (p.Ala1373Ter) rs797045938
NM_014363.6(SACS):c.411A>G (p.Gln137=)
NM_014363.6(SACS):c.4143A>T (p.Ile1381=) rs2137630038
NM_014363.6(SACS):c.4145A>G (p.His1382Arg) rs550057119
NM_014363.6(SACS):c.4154A>G (p.Lys1385Arg)
NM_014363.6(SACS):c.4161T>C (p.Pro1387=) rs2137629827
NM_014363.6(SACS):c.4161T>G (p.Pro1387=) rs2137629827
NM_014363.6(SACS):c.416G>A (p.Gly139Glu)
NM_014363.6(SACS):c.4173C>A (p.Ile1391=)
NM_014363.6(SACS):c.4186C>A (p.His1396Asn)
NM_014363.6(SACS):c.4189G>A (p.Glu1397Lys)
NM_014363.6(SACS):c.4206C>T (p.Asp1402=)
NM_014363.6(SACS):c.4209T>A (p.Ile1403=) rs1869011953
NM_014363.6(SACS):c.420A>C (p.Thr140=)
NM_014363.6(SACS):c.4215T>C (p.Val1405=) rs1869011481
NM_014363.6(SACS):c.4216G>A (p.Asp1406Asn)
NM_014363.6(SACS):c.4221C>T (p.Asp1407=)
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter) rs867249938
NM_014363.6(SACS):c.423G>A (p.Glu141=)
NM_014363.6(SACS):c.4248G>A (p.Val1416=)
NM_014363.6(SACS):c.4251A>G (p.Glu1417=)
NM_014363.6(SACS):c.4259_4263del (p.Ile1420fs) rs1869006331
NM_014363.6(SACS):c.4261T>C (p.Leu1421=) rs2137629081
NM_014363.6(SACS):c.426T>C (p.Thr142=)
NM_014363.6(SACS):c.426T>G (p.Thr142=) rs1168227480
NM_014363.6(SACS):c.4276A>G (p.Ile1426Val)
NM_014363.6(SACS):c.4279C>A (p.Pro1427Thr) rs527513599
NM_014363.6(SACS):c.427_428del (p.Trp144fs)
NM_014363.6(SACS):c.4293A>G (p.Ala1431=) rs1435062134
NM_014363.6(SACS):c.429_430del (p.Trp144fs)
NM_014363.6(SACS):c.4300C>T (p.Leu1434=)
NM_014363.6(SACS):c.4311A>G (p.Pro1437=)
NM_014363.6(SACS):c.4314C>T (p.Cys1438=) rs2137628638
NM_014363.6(SACS):c.4328_4329del (p.Leu1443fs)
NM_014363.6(SACS):c.4341A>G (p.Glu1447=)
NM_014363.6(SACS):c.4354G>A (p.Glu1452Lys)
NM_014363.6(SACS):c.4356G>A (p.Glu1452=) rs2137628388
NM_014363.6(SACS):c.4359G>A (p.Gln1453=)
NM_014363.6(SACS):c.435A>G (p.Ser145=) rs1870983913
NM_014363.6(SACS):c.4361C>G (p.Ser1454Ter)
NM_014363.6(SACS):c.4371_4374del (p.Arg1457fs) rs2137628257
NM_014363.6(SACS):c.4377A>C (p.Pro1459=)
NM_014363.6(SACS):c.4383T>C (p.Thr1461=) rs2137628150
NM_014363.6(SACS):c.4393A>T (p.Lys1465Ter)
NM_014363.6(SACS):c.4413C>T (p.Tyr1471=) rs2137627934
NM_014363.6(SACS):c.4414C>A (p.Pro1472Thr)
NM_014363.6(SACS):c.442A>G (p.Met148Val)
NM_014363.6(SACS):c.4434T>C (p.Phe1478=) rs545103369
NM_014363.6(SACS):c.4437A>G (p.Lys1479=)
NM_014363.6(SACS):c.4440A>G (p.Glu1480=) rs1477679960
NM_014363.6(SACS):c.4441C>T (p.Leu1481=)
NM_014363.6(SACS):c.4443A>G (p.Leu1481=)
NM_014363.6(SACS):c.4457A>T (p.Asp1486Val) rs2137627584
NM_014363.6(SACS):c.4465A>C (p.Asn1489His)
NM_014363.6(SACS):c.4465A>G (p.Asn1489Asp)
NM_014363.6(SACS):c.4473A>G (p.Thr1491=)
NM_014363.6(SACS):c.4479C>T (p.Cys1493=) rs1208272610
NM_014363.6(SACS):c.4482T>C (p.Ser1494=)
NM_014363.6(SACS):c.4488G>A (p.Leu1496=) rs770743092
NM_014363.6(SACS):c.4489A>G (p.Ile1497Val)
NM_014363.6(SACS):c.4491T>G (p.Ile1497Met)
NM_014363.6(SACS):c.4494_4498del (p.Asp1498fs)
NM_014363.6(SACS):c.4495A>T (p.Met1499Leu)
NM_014363.6(SACS):c.4501A>C (p.Arg1501=)
NM_014363.6(SACS):c.4505A>T (p.Asn1502Ile) rs1246233364
NM_014363.6(SACS):c.4507A>G (p.Met1503Val)
NM_014363.6(SACS):c.450A>G (p.Pro150=)
NM_014363.6(SACS):c.4519G>C (p.Glu1507Gln)
NM_014363.6(SACS):c.4519_4522del (p.Glu1507fs) rs1307665214
NM_014363.6(SACS):c.4536A>G (p.Pro1512=) rs1458404801
NM_014363.6(SACS):c.4538G>C (p.Gly1513Ala)
NM_014363.6(SACS):c.4539G>A (p.Gly1513=) rs2137626779
NM_014363.6(SACS):c.4539del (p.Met1514fs)
NM_014363.6(SACS):c.453T>A (p.Tyr151Ter) rs2137781223
NM_014363.6(SACS):c.453T>C (p.Tyr151=)
NM_014363.6(SACS):c.4554T>C (p.His1518=)
NM_014363.6(SACS):c.4565_4568del (p.Leu1522fs) rs1555252349
NM_014363.6(SACS):c.457+14A>G
NM_014363.6(SACS):c.457+17A>G
NM_014363.6(SACS):c.457+7A>G
NM_014363.6(SACS):c.457+9C>A rs2137781156
NM_014363.6(SACS):c.4578C>T (p.Asn1526=) rs2137626534
NM_014363.6(SACS):c.458-15C>T
NM_014363.6(SACS):c.458-16G>A
NM_014363.6(SACS):c.458-20C>T
NM_014363.6(SACS):c.458-2A>C rs2137743517
NM_014363.6(SACS):c.458-5C>T rs2137743552
NM_014363.6(SACS):c.458-6A>G rs2137743565
NM_014363.6(SACS):c.458-8A>G rs2137743585
NM_014363.6(SACS):c.4583C>G (p.Ser1528Cys)
NM_014363.6(SACS):c.4587A>G (p.Gln1529=) rs1868971659
NM_014363.6(SACS):c.4592C>T (p.Ser1531Leu)
NM_014363.6(SACS):c.459G>T (p.Gly153=)
NM_014363.6(SACS):c.4605T>G (p.Phe1535Leu)
NM_014363.6(SACS):c.4606G>A (p.Val1536Met)
NM_014363.6(SACS):c.4614A>T (p.Ile1538=) rs2137626085
NM_014363.6(SACS):c.4621T>C (p.Leu1541=)
NM_014363.6(SACS):c.4632T>C (p.Ser1544=) rs746782287
NM_014363.6(SACS):c.4639dup (p.Arg1547fs)
NM_014363.6(SACS):c.4651G>A (p.Asp1551Asn)
NM_014363.6(SACS):c.4652A>G (p.Asp1551Gly)
NM_014363.6(SACS):c.4654A>C (p.Lys1552Gln)
NM_014363.6(SACS):c.4656A>G (p.Lys1552=)
NM_014363.6(SACS):c.4668T>C (p.Phe1556=) rs2137625592
NM_014363.6(SACS):c.466_469del (p.Leu156fs)
NM_014363.6(SACS):c.4671T>C (p.Gly1557=)
NM_014363.6(SACS):c.4674T>C (p.Leu1558=)
NM_014363.6(SACS):c.4686T>G (p.Ser1562=)
NM_014363.6(SACS):c.4695T>C (p.His1565=)
NM_014363.6(SACS):c.4698C>A (p.Ile1566=)
NM_014363.6(SACS):c.4698C>T (p.Ile1566=) rs1868956874
NM_014363.6(SACS):c.4701del (p.Asp1568fs)
NM_014363.6(SACS):c.4707T>C (p.Ile1569=) rs1437241759
NM_014363.6(SACS):c.470_471del (p.Tyr157fs) rs1444216187
NM_014363.6(SACS):c.4711A>T (p.Ile1571Phe)
NM_014363.6(SACS):c.4744G>C (p.Asp1582His)
NM_014363.6(SACS):c.4753A>G (p.Ile1585Val) rs2137624716
NM_014363.6(SACS):c.4755A>C (p.Ile1585=)
NM_014363.6(SACS):c.4756_4760del (p.Asn1586fs) rs765361868
NM_014363.6(SACS):c.4770A>G (p.Lys1590=)
NM_014363.6(SACS):c.4775_4776del (p.Ile1592fs) rs2137624455
NM_014363.6(SACS):c.477C>A (p.Tyr159Ter)
NM_014363.6(SACS):c.477C>T (p.Tyr159=) rs1870531490
NM_014363.6(SACS):c.4797G>A (p.Gly1599=)
NM_014363.6(SACS):c.4797G>T (p.Gly1599=)
NM_014363.6(SACS):c.4807A>G (p.Asn1603Asp)
NM_014363.6(SACS):c.4821A>G (p.Gln1607=) rs2137624161
NM_014363.6(SACS):c.4828A>C (p.Arg1610=) rs2137624139
NM_014363.6(SACS):c.4839A>G (p.Lys1613=) rs1450484419
NM_014363.6(SACS):c.484G>A (p.Ala162Thr)
NM_014363.6(SACS):c.4860A>G (p.Pro1620=) rs747465682
NM_014363.6(SACS):c.4864A>G (p.Ile1622Val)
NM_014363.6(SACS):c.4869T>C (p.Asp1623=)
NM_014363.6(SACS):c.486G>T (p.Ala162=) rs775081172
NM_014363.6(SACS):c.4870G>T (p.Val1624Leu)
NM_014363.6(SACS):c.4872A>G (p.Val1624=) rs758775714
NM_014363.6(SACS):c.4875T>C (p.Phe1625=)
NM_014363.6(SACS):c.4881T>C (p.Cys1627=)
NM_014363.6(SACS):c.4885T>C (p.Leu1629=)
NM_014363.6(SACS):c.4888C>G (p.Pro1630Ala)
NM_014363.6(SACS):c.4890T>C (p.Pro1630=)
NM_014363.6(SACS):c.4890T>G (p.Pro1630=)
NM_014363.6(SACS):c.4891T>C (p.Leu1631=)
NM_014363.6(SACS):c.4893G>C (p.Leu1631Phe)
NM_014363.6(SACS):c.4894A>C (p.Thr1632Pro)
NM_014363.6(SACS):c.4904C>T (p.Ala1635Val)
NM_014363.6(SACS):c.4910dup (p.Tyr1637Ter)
NM_014363.6(SACS):c.4917T>C (p.Tyr1639=)
NM_014363.6(SACS):c.4920T>C (p.Asn1640=) rs1868928685
NM_014363.6(SACS):c.4926C>G (p.Thr1642=) rs1183192870
NM_014363.6(SACS):c.4926C>T (p.Thr1642=) rs1183192870
NM_014363.6(SACS):c.4932C>T (p.Phe1644=)
NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter) rs770901638
NM_014363.6(SACS):c.4934G>A (p.Arg1645Gln)
NM_014363.6(SACS):c.4937del (p.Leu1646fs)
NM_014363.6(SACS):c.4938G>T (p.Leu1646=)
NM_014363.6(SACS):c.4951C>T (p.Gln1651Ter) rs2137623007
NM_014363.6(SACS):c.4953A>G (p.Gln1651=)
NM_014363.6(SACS):c.495C>T (p.Thr165=) rs2137743071
NM_014363.6(SACS):c.4971T>C (p.Ser1657=) rs1593130707
NM_014363.6(SACS):c.4977T>C (p.Val1659=)
NM_014363.6(SACS):c.4982G>A (p.Ser1661Asn)
NM_014363.6(SACS):c.4986G>A (p.Thr1662=) rs755523201
NM_014363.6(SACS):c.4986G>C (p.Thr1662=)
NM_014363.6(SACS):c.498A>G (p.Pro166=) rs1870528398
NM_014363.6(SACS):c.4992C>T (p.Tyr1664=) rs1158968797
NM_014363.6(SACS):c.5004T>C (p.Asp1668=)
NM_014363.6(SACS):c.5008_5011del (p.Tyr1670fs) rs2137622518
NM_014363.6(SACS):c.5012C>T (p.Ser1671Phe)
NM_014363.6(SACS):c.5013T>A (p.Ser1671=)
NM_014363.6(SACS):c.5028T>C (p.Phe1676=)
NM_014363.6(SACS):c.5032C>T (p.Leu1678Phe)
NM_014363.6(SACS):c.5033T>A (p.Leu1678His)
NM_014363.6(SACS):c.5034C>T (p.Leu1678=)
NM_014363.6(SACS):c.5035T>A (p.Cys1679Ser)
NM_014363.6(SACS):c.5040A>G (p.Gly1680=)
NM_014363.6(SACS):c.5043C>T (p.His1681=) rs1868915593
NM_014363.6(SACS):c.5063dup (p.Ser1689fs)
NM_014363.6(SACS):c.5065_5066del (p.Ser1689fs) rs1372213267
NM_014363.6(SACS):c.5070A>G (p.Val1690=) rs773360433
NM_014363.6(SACS):c.5075C>A (p.Ser1692Ter) rs1555252184
NM_014363.6(SACS):c.5077A>G (p.Met1693Val)
NM_014363.6(SACS):c.5079G>A (p.Met1693Ile) rs775069857
NM_014363.6(SACS):c.5091C>T (p.Tyr1697=) rs1868910034
NM_014363.6(SACS):c.5092T>C (p.Leu1698=)
NM_014363.6(SACS):c.5099T>C (p.Ile1700Thr)
NM_014363.6(SACS):c.5103G>A (p.Glu1701=) rs2137621687
NM_014363.6(SACS):c.5104G>A (p.Glu1702Lys)
NM_014363.6(SACS):c.511G>A (p.Gly171Ser)
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter) rs1057517311
NM_014363.6(SACS):c.5132C>T (p.Thr1711Ile)
NM_014363.6(SACS):c.5141T>C (p.Ile1714Thr) rs2137621295
NM_014363.6(SACS):c.5141_5144del (p.Ile1714fs)
NM_014363.6(SACS):c.5151A>G (p.Lys1717=)
NM_014363.6(SACS):c.5151del (p.Lys1717fs) rs754439135
NM_014363.6(SACS):c.5151dup (p.Ser1718fs) rs754439135
NM_014363.6(SACS):c.5154C>T (p.Ser1718=)
NM_014363.6(SACS):c.5163del (p.Ala1723fs)
NM_014363.6(SACS):c.5170T>C (p.Leu1724=)
NM_014363.6(SACS):c.5172_5173delinsTGGAACACAAAG (p.Leu1724fs) rs1868900449
NM_014363.6(SACS):c.5173A>G (p.Asn1725Asp)
NM_014363.6(SACS):c.5175C>A (p.Asn1725Lys)
NM_014363.6(SACS):c.5175C>T (p.Asn1725=)
NM_014363.6(SACS):c.5178A>C (p.Thr1726=)
NM_014363.6(SACS):c.5179C>T (p.Pro1727Ser)
NM_014363.6(SACS):c.517C>T (p.Gln173Ter) rs1593147785
NM_014363.6(SACS):c.5181T>C (p.Pro1727=)
NM_014363.6(SACS):c.5182G>A (p.Val1728Ile)
NM_014363.6(SACS):c.5184C>T (p.Val1728=) rs766460230
NM_014363.6(SACS):c.5185T>C (p.Leu1729=)
NM_014363.6(SACS):c.5188A>C (p.Ser1730Arg)
NM_014363.6(SACS):c.519A>G (p.Gln173=)
NM_014363.6(SACS):c.5203G>A (p.Ala1735Thr)
NM_014363.6(SACS):c.5226C>T (p.Cys1742=) rs770106641
NM_014363.6(SACS):c.5229C>T (p.Ser1743=)
NM_014363.6(SACS):c.5239A>C (p.Lys1747Gln)
NM_014363.6(SACS):c.5241A>G (p.Lys1747=) rs2137620327
NM_014363.6(SACS):c.5244G>A (p.Lys1748=)
NM_014363.6(SACS):c.5262A>G (p.Pro1754=)
NM_014363.6(SACS):c.5263A>G (p.Lys1755Glu)
NM_014363.6(SACS):c.5277T>C (p.Ile1759=) rs2137620095
NM_014363.6(SACS):c.5301del (p.His1768fs)
NM_014363.6(SACS):c.5302C>T (p.His1768Tyr) rs758381112
NM_014363.6(SACS):c.5304_5306del (p.His1769del) rs1555252136
NM_014363.6(SACS):c.5306A>G (p.His1769Arg)
NM_014363.6(SACS):c.5308G>A (p.Val1770Met)
NM_014363.6(SACS):c.5320A>T (p.Ile1774Phe)
NM_014363.6(SACS):c.5328T>A (p.Asp1776Glu)
NM_014363.6(SACS):c.5328T>C (p.Asp1776=)
NM_014363.6(SACS):c.5336C>T (p.Ser1779Leu)
NM_014363.6(SACS):c.5340A>T (p.Pro1780=) rs1195719474
NM_014363.6(SACS):c.5355A>T (p.Pro1785=)
NM_014363.6(SACS):c.5357A>G (p.Asp1786Gly)
NM_014363.6(SACS):c.535A>G (p.Arg179Gly)
NM_014363.6(SACS):c.5364C>T (p.Asp1788=) rs770178890
NM_014363.6(SACS):c.5374C>T (p.Leu1792Phe)
NM_014363.6(SACS):c.5376C>A (p.Leu1792=)
NM_014363.6(SACS):c.5379del (p.Phe1793fs) rs1057517297
NM_014363.6(SACS):c.5380del (p.Glu1794fs)
NM_014363.6(SACS):c.5388T>G (p.Ala1796=) rs770598686
NM_014363.6(SACS):c.5393_5394del (p.Ser1798fs) rs2137619202
NM_014363.6(SACS):c.5405_5408del (p.Lys1802fs)
NM_014363.6(SACS):c.540A>G (p.Lys180=) rs999767217
NM_014363.6(SACS):c.5421G>A (p.Glu1807=) rs2137619035
NM_014363.6(SACS):c.5424G>A (p.Leu1808=)
NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter) rs1868872666
NM_014363.6(SACS):c.543G>A (p.Lys181=)
NM_014363.6(SACS):c.5440_5449del (p.Glu1814fs) rs1566067485
NM_014363.6(SACS):c.5443T>C (p.Cys1815Arg)
NM_014363.6(SACS):c.5450C>T (p.Thr1817Met) rs898102157
NM_014363.6(SACS):c.5451G>A (p.Thr1817=) rs1255397727
NM_014363.6(SACS):c.5457T>G (p.Leu1819=) rs2137618681
NM_014363.6(SACS):c.5460G>C (p.Leu1820=)
NM_014363.6(SACS):c.5462G>A (p.Cys1821Tyr)
NM_014363.6(SACS):c.5468G>T (p.Cys1823Phe) rs967386746
NM_014363.6(SACS):c.5478A>G (p.Thr1826=)
NM_014363.6(SACS):c.5482G>T (p.Glu1828Ter)
NM_014363.6(SACS):c.5484G>A (p.Glu1828=)
NM_014363.6(SACS):c.5488C>T (p.Leu1830=) rs1868863069
NM_014363.6(SACS):c.5493G>A (p.Lys1831=) rs1593129949
NM_014363.6(SACS):c.5496T>C (p.Phe1832=)
NM_014363.6(SACS):c.5498C>T (p.Ser1833Phe)
NM_014363.6(SACS):c.5499C>T (p.Ser1833=)
NM_014363.6(SACS):c.5505T>C (p.Ser1835=) rs1868861379
NM_014363.6(SACS):c.5510G>A (p.Ser1837Asn)
NM_014363.6(SACS):c.5518A>C (p.Arg1840=)
NM_014363.6(SACS):c.5522T>C (p.Leu1841Pro)
NM_014363.6(SACS):c.5527C>T (p.Leu1843=) rs2137618089
NM_014363.6(SACS):c.5529G>A (p.Leu1843=)
NM_014363.6(SACS):c.5541G>A (p.Gly1847=)
NM_014363.6(SACS):c.554T>G (p.Leu185Arg)
NM_014363.6(SACS):c.5550A>T (p.Gly1850=)
NM_014363.6(SACS):c.5554C>T (p.Gln1852Ter)
NM_014363.6(SACS):c.5556G>A (p.Gln1852=)
NM_014363.6(SACS):c.5576A>G (p.Gln1859Arg)
NM_014363.6(SACS):c.5580G>A (p.Lys1860=)
NM_014363.6(SACS):c.5585C>G (p.Thr1862Arg)
NM_014363.6(SACS):c.5587G>A (p.Val1863Met)
NM_014363.6(SACS):c.5589G>A (p.Val1863=)
NM_014363.6(SACS):c.5598C>T (p.His1866=) rs2137617508
NM_014363.6(SACS):c.5598_5599del (p.Ile1867fs) rs1555252086
NM_014363.6(SACS):c.5599A>G (p.Ile1867Val)
NM_014363.6(SACS):c.559G>T (p.Val187Phe) rs1344578174
NM_014363.6(SACS):c.5607G>A (p.Glu1869=)
NM_014363.6(SACS):c.5608G>A (p.Val1870Met)
NM_014363.6(SACS):c.5622A>C (p.Leu1874Phe)
NM_014363.6(SACS):c.5636A>G (p.Lys1879Arg)
NM_014363.6(SACS):c.5643C>G (p.Gly1881=)
NM_014363.6(SACS):c.5646G>A (p.Leu1882=) rs927826338
NM_014363.6(SACS):c.5649A>G (p.Pro1883=)
NM_014363.6(SACS):c.5652T>G (p.Val1884=) rs2137617009
NM_014363.6(SACS):c.5670T>C (p.Phe1890=) rs2137616884
NM_014363.6(SACS):c.5674G>A (p.Val1892Ile) rs2137616839
NM_014363.6(SACS):c.5679A>C (p.Thr1893=)
NM_014363.6(SACS):c.5679A>G (p.Thr1893=) rs1414521853
NM_014363.6(SACS):c.5682A>G (p.Ser1894=)
NM_014363.6(SACS):c.5684A>G (p.Asn1895Ser)
NM_014363.6(SACS):c.5700G>A (p.Trp1900Ter)
NM_014363.6(SACS):c.5703A>G (p.Lys1901=)
NM_014363.6(SACS):c.5707_5708del (p.Asp1903fs) rs1593129673
NM_014363.6(SACS):c.5711C>A (p.Thr1904Lys)
NM_014363.6(SACS):c.5711C>G (p.Thr1904Arg) rs758570844
NM_014363.6(SACS):c.5711C>T (p.Thr1904Ile) rs758570844
NM_014363.6(SACS):c.5712A>C (p.Thr1904=)
NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter) rs1485209013
NM_014363.6(SACS):c.5727T>C (p.Asn1909=)
NM_014363.6(SACS):c.5730C>T (p.Thr1910=) rs2137616328
NM_014363.6(SACS):c.5733G>T (p.Thr1911=)
NM_014363.6(SACS):c.5736C>T (p.Phe1912=) rs760723369
NM_014363.6(SACS):c.573A>C (p.Gly191=)
NM_014363.6(SACS):c.5743_5744del (p.His1915fs) rs2137616213
NM_014363.6(SACS):c.5744_5745del (p.His1915fs) rs1057517138
NM_014363.6(SACS):c.5745T>C (p.His1915=) rs750789221
NM_014363.6(SACS):c.5747T>A (p.Val1916Asp)
NM_014363.6(SACS):c.5754G>A (p.Val1918=) rs1355702259
NM_014363.6(SACS):c.5764_5767del (p.Leu1922fs) rs759166250
NM_014363.6(SACS):c.5766A>G (p.Leu1922=) rs1443404509
NM_014363.6(SACS):c.5768A>C (p.Gln1923Pro) rs1868830508
NM_014363.6(SACS):c.576T>C (p.Ile192=) rs1314146678
NM_014363.6(SACS):c.5775G>A (p.Leu1925=)
NM_014363.6(SACS):c.5785C>A (p.Arg1929=) rs141019064
NM_014363.6(SACS):c.5785C>T (p.Arg1929Trp) rs141019064
NM_014363.6(SACS):c.5788G>A (p.Asp1930Asn)
NM_014363.6(SACS):c.5794G>A (p.Ala1932Thr)
NM_014363.6(SACS):c.5796_5809del (p.Thr1933fs) rs2137615608
NM_014363.6(SACS):c.579G>T (p.Gly193=)
NM_014363.6(SACS):c.5802T>C (p.Ser1934=)
NM_014363.6(SACS):c.5824_5827del (p.Tyr1942fs) rs2137615500
NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg) rs137853017
NM_014363.6(SACS):c.5850T>C (p.Asp1950=)
NM_014363.6(SACS):c.5857C>T (p.His1953Tyr)
NM_014363.6(SACS):c.5858A>T (p.His1953Leu) rs1428265468
NM_014363.6(SACS):c.5863G>T (p.Asp1955Tyr)
NM_014363.6(SACS):c.5864A>G (p.Asp1955Gly)
NM_014363.6(SACS):c.5886A>G (p.Gly1962=) rs1593129426
NM_014363.6(SACS):c.5886A>T (p.Gly1962=)
NM_014363.6(SACS):c.5892T>C (p.Tyr1964=) rs2137614926
NM_014363.6(SACS):c.5896G>A (p.Asp1966Asn)
NM_014363.6(SACS):c.5900T>C (p.Ile1967Thr)
NM_014363.6(SACS):c.5901dup (p.Ala1968fs)
NM_014363.6(SACS):c.5919A>G (p.Lys1973=)
NM_014363.6(SACS):c.5920G>A (p.Glu1974Lys)
NM_014363.6(SACS):c.5927C>G (p.Thr1976Ser)
NM_014363.6(SACS):c.5935T>G (p.Phe1979Val)
NM_014363.6(SACS):c.5937C>T (p.Phe1979=)
NM_014363.6(SACS):c.5944G>A (p.Gly1982Arg)
NM_014363.6(SACS):c.5958T>G (p.Val1986=)
NM_014363.6(SACS):c.5961C>T (p.Ser1987=)
NM_014363.6(SACS):c.5974A>C (p.Arg1992=)
NM_014363.6(SACS):c.597T>C (p.His199=)
NM_014363.6(SACS):c.5989T>A (p.Ser1997Thr)
NM_014363.6(SACS):c.5991T>C (p.Ser1997=)
NM_014363.6(SACS):c.5998A>G (p.Lys2000Glu)
NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs) rs773754134
NM_014363.6(SACS):c.6002_6003dup (p.Arg2002fs)
NM_014363.6(SACS):c.6007G>A (p.Asp2003Asn)
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val) rs537408260
NM_014363.6(SACS):c.600A>G (p.Ile200Met) rs2137742429
NM_014363.6(SACS):c.6011T>C (p.Val2004Ala)
NM_014363.6(SACS):c.6019G>C (p.Ala2007Pro)
NM_014363.6(SACS):c.604+12_604+13insATTAGATCCTCCCGAATCAACCCTGACCCCTCTCCTTCATAAATTATTCAGCTTCCTACACTATTAAAGTTTACCACAACCACCACCCCATCATACTCTTTCACCCACAGCACCAATCCTACCTCCATCGCTAACCCCACTAAAACACTCACCAAGACCTCAACCCCTGACC
NM_014363.6(SACS):c.604+19C>T
NM_014363.6(SACS):c.604+1G>A rs1555254734
NM_014363.6(SACS):c.604+20G>A
NM_014363.6(SACS):c.604+9T>G
NM_014363.6(SACS):c.6045_6049del (p.Tyr2015_Lys2017delinsTer)
NM_014363.6(SACS):c.6046C>G (p.Leu2016Val)
NM_014363.6(SACS):c.605-15A>C
NM_014363.6(SACS):c.605-16A>G
NM_014363.6(SACS):c.605-18T>C
NM_014363.6(SACS):c.605-7T>C rs1486783723
NM_014363.6(SACS):c.605-7T>G
NM_014363.6(SACS):c.6057T>C (p.Thr2019=) rs1170458264
NM_014363.6(SACS):c.605A>G (p.Asp202Gly) rs777554091
NM_014363.6(SACS):c.6060G>T (p.Gly2020=)
NM_014363.6(SACS):c.6063C>T (p.Ser2021=)
NM_014363.6(SACS):c.6092C>T (p.Ser2031Phe)
NM_014363.6(SACS):c.6105A>G (p.Leu2035=)
NM_014363.6(SACS):c.6108A>T (p.Gly2036=)
NM_014363.6(SACS):c.611del (p.Pro204fs)
NM_014363.6(SACS):c.6136C>T (p.Leu2046=) rs2137612302
NM_014363.6(SACS):c.6138A>G (p.Leu2046=)
NM_014363.6(SACS):c.6140T>C (p.Leu2047Pro)
NM_014363.6(SACS):c.6143A>G (p.Glu2048Gly)
NM_014363.6(SACS):c.6147C>T (p.Asn2049=)
NM_014363.6(SACS):c.614G>T (p.Cys205Phe) rs2137729432
NM_014363.6(SACS):c.6150A>G (p.Thr2050=) rs1370520115
NM_014363.6(SACS):c.6156A>T (p.Ser2052=) rs1868777158
NM_014363.6(SACS):c.6162A>G (p.Lys2054=)
NM_014363.6(SACS):c.6163C>A (p.Gln2055Lys)
NM_014363.6(SACS):c.6164A>G (p.Gln2055Arg)
NM_014363.6(SACS):c.6165G>A (p.Gln2055=) rs748525192
NM_014363.6(SACS):c.6172dup (p.Ser2058fs)
NM_014363.6(SACS):c.6174T>C (p.Ser2058=)
NM_014363.6(SACS):c.6176A>T (p.Glu2059Val)
NM_014363.6(SACS):c.6179T>C (p.Val2060Ala)
NM_014363.6(SACS):c.6180G>C (p.Val2060=)
NM_014363.6(SACS):c.6189A>G (p.Pro2063=)
NM_014363.6(SACS):c.6204T>A (p.Ile2068=)
NM_014363.6(SACS):c.6218del (p.Arg2073fs)
NM_014363.6(SACS):c.621T>C (p.Phe207=)
NM_014363.6(SACS):c.621dup (p.Ser208Ter) rs2137729385
NM_014363.6(SACS):c.6221del (p.Asp2074fs) rs1057517366
NM_014363.6(SACS):c.6226T>G (p.Leu2076Val)
NM_014363.6(SACS):c.6237T>C (p.Phe2079=) rs1185366909
NM_014363.6(SACS):c.6241C>T (p.Leu2081=)
NM_014363.6(SACS):c.6256G>A (p.Asp2086Asn)
NM_014363.6(SACS):c.6257A>G (p.Asp2086Gly)
NM_014363.6(SACS):c.6257A>T (p.Asp2086Val)
NM_014363.6(SACS):c.6273T>A (p.Val2091=)
NM_014363.6(SACS):c.6278G>A (p.Arg2093His)
NM_014363.6(SACS):c.627T>C (p.Gly209=)
NM_014363.6(SACS):c.6281T>A (p.Val2094Asp)
NM_014363.6(SACS):c.6288A>G (p.Pro2096=)
NM_014363.6(SACS):c.6300T>A (p.Cys2100Ter) rs2137610914
NM_014363.6(SACS):c.6303del (p.Leu2102fs) rs2137610861
NM_014363.6(SACS):c.6330A>G (p.Pro2110=)
NM_014363.6(SACS):c.6337T>C (p.Leu2113=)
NM_014363.6(SACS):c.6338_6341del (p.Leu2113fs) rs1555251822
NM_014363.6(SACS):c.6342C>T (p.Ile2114=)
NM_014363.6(SACS):c.6343C>T (p.His2115Tyr) rs757161092
NM_014363.6(SACS):c.6348C>G (p.Pro2116=)
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter) rs766711286
NM_014363.6(SACS):c.6362C>T (p.Ala2121Val)
NM_014363.6(SACS):c.6363A>G (p.Ala2121=)
NM_014363.6(SACS):c.636C>T (p.Ile212=) rs749553267
NM_014363.6(SACS):c.6377T>C (p.Ile2126Thr) rs373982540
NM_014363.6(SACS):c.6387G>A (p.Gly2129=) rs141341126
NM_014363.6(SACS):c.6387G>C (p.Gly2129=) rs141341126
NM_014363.6(SACS):c.6389G>C (p.Arg2130Thr)
NM_014363.6(SACS):c.6402T>A (p.Gly2134=) rs2137610043
NM_014363.6(SACS):c.6411G>A (p.Gln2137=)
NM_014363.6(SACS):c.6413A>T (p.Asp2138Val)
NM_014363.6(SACS):c.6422A>G (p.Asn2141Ser)
NM_014363.6(SACS):c.6434T>A (p.Leu2145Ter) rs770490672
NM_014363.6(SACS):c.6436A>G (p.Ile2146Val) rs1415663565
NM_014363.6(SACS):c.6445G>A (p.Val2149Ile)
NM_014363.6(SACS):c.6448_6452del (p.Gln2150fs) rs1057516635
NM_014363.6(SACS):c.6453A>G (p.Leu2151=) rs2137609654
NM_014363.6(SACS):c.6455G>A (p.Gly2152Asp)
NM_014363.6(SACS):c.645A>G (p.Leu215=)
NM_014363.6(SACS):c.6460G>A (p.Ala2154Thr)
NM_014363.6(SACS):c.6460G>T (p.Ala2154Ser) rs146031135
NM_014363.6(SACS):c.6475T>C (p.Leu2159=)
NM_014363.6(SACS):c.6492A>G (p.Leu2164=) rs752050563
NM_014363.6(SACS):c.6495A>G (p.Glu2165=) rs2137609252
NM_014363.6(SACS):c.6497G>A (p.Arg2166His)
NM_014363.6(SACS):c.6498T>C (p.Arg2166=)
NM_014363.6(SACS):c.6500C>T (p.Ala2167Val)
NM_014363.6(SACS):c.6510A>G (p.Val2170=)
NM_014363.6(SACS):c.6510A>T (p.Val2170=)
NM_014363.6(SACS):c.6513T>G (p.Ala2171=)
NM_014363.6(SACS):c.6535G>A (p.Val2179Ile)
NM_014363.6(SACS):c.6538dup (p.Ala2180fs)
NM_014363.6(SACS):c.653A>T (p.His218Leu)
NM_014363.6(SACS):c.6546C>T (p.Cys2182=)
NM_014363.6(SACS):c.6558T>C (p.Ser2186=)
NM_014363.6(SACS):c.655C>A (p.Gln219Lys)
NM_014363.6(SACS):c.6565T>C (p.Leu2189=)
NM_014363.6(SACS):c.6579T>C (p.Asp2193=) rs746075355
NM_014363.6(SACS):c.6585A>G (p.Lys2195=) rs912390732
NM_014363.6(SACS):c.6585A>T (p.Lys2195Asn)
NM_014363.6(SACS):c.6605G>A (p.Arg2202Lys)
NM_014363.6(SACS):c.6609A>G (p.Ala2203=)
NM_014363.6(SACS):c.6623del (p.Ala2208fs) rs1181477970
NM_014363.6(SACS):c.6629A>G (p.Tyr2210Cys)
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala) rs556248979
NM_014363.6(SACS):c.6636A>C (p.Thr2212=) rs899076462
NM_014363.6(SACS):c.6637A>G (p.Ile2213Val)
NM_014363.6(SACS):c.6641G>A (p.Arg2214His)
NM_014363.6(SACS):c.6641G>T (p.Arg2214Leu)
NM_014363.6(SACS):c.6650C>A (p.Pro2217Gln) rs1868700605
NM_014363.6(SACS):c.6663A>G (p.Lys2221=)
NM_014363.6(SACS):c.6666A>C (p.Pro2222=)
NM_014363.6(SACS):c.666T>C (p.Phe222=)
NM_014363.6(SACS):c.6679T>A (p.Leu2227Met) rs1868697576
NM_014363.6(SACS):c.6682G>T (p.Asp2228Tyr)
NM_014363.6(SACS):c.6683A>G (p.Asp2228Gly)
NM_014363.6(SACS):c.6696C>T (p.Asn2232=) rs1868695544
NM_014363.6(SACS):c.6702T>A (p.Phe2234Leu) rs774487714
NM_014363.6(SACS):c.6702T>C (p.Phe2234=) rs774487714
NM_014363.6(SACS):c.6705G>A (p.Lys2235=)
NM_014363.6(SACS):c.6714C>T (p.Thr2238=) rs2137607327
NM_014363.6(SACS):c.6723A>G (p.Ala2241=)
NM_014363.6(SACS):c.6732C>T (p.Asp2244=) rs1267521367
NM_014363.6(SACS):c.6739A>G (p.Thr2247Ala) rs1272133291
NM_014363.6(SACS):c.6741A>C (p.Thr2247=) rs2137607122
NM_014363.6(SACS):c.6747A>G (p.Glu2249=)
NM_014363.6(SACS):c.674A>G (p.His225Arg)
NM_014363.6(SACS):c.6751C>A (p.Gln2251Lys) rs747293426
NM_014363.6(SACS):c.6757dup (p.Ile2253fs) rs1057516932
NM_014363.6(SACS):c.6758T>C (p.Ile2253Thr)
NM_014363.6(SACS):c.6759A>C (p.Ile2253=) rs1312837697
NM_014363.6(SACS):c.675T>G (p.His225Gln) rs2137729069
NM_014363.6(SACS):c.6769T>C (p.Leu2257=) rs2137606843
NM_014363.6(SACS):c.6770del (p.Leu2257fs)
NM_014363.6(SACS):c.6789A>G (p.Glu2263=)
NM_014363.6(SACS):c.6792T>C (p.Asn2264=)
NM_014363.6(SACS):c.6796C>A (p.His2266Asn)
NM_014363.6(SACS):c.6799del (p.Ser2267fs)
NM_014363.6(SACS):c.6801T>C (p.Ser2267=)
NM_014363.6(SACS):c.6813T>G (p.Cys2271Trp)
NM_014363.6(SACS):c.6816T>G (p.Gly2272=)
NM_014363.6(SACS):c.6822_6833del (p.Ser2275_Val2278del)
NM_014363.6(SACS):c.6825A>C (p.Ser2275=) rs368891664
NM_014363.6(SACS):c.6837dup (p.Glu2280fs) rs748765057
NM_014363.6(SACS):c.6840G>T (p.Glu2280Asp)
NM_014363.6(SACS):c.6845T>A (p.Leu2282Ter) rs2137606000
NM_014363.6(SACS):c.6849A>T (p.Gly2283=) rs755452979
NM_014363.6(SACS):c.6855C>G (p.Leu2285=) rs2137605914
NM_014363.6(SACS):c.6858G>A (p.Lys2286=) rs1868677264
NM_014363.6(SACS):c.6860A>G (p.Lys2287Arg)
NM_014363.6(SACS):c.6866C>T (p.Thr2289Ile)
NM_014363.6(SACS):c.6866_6867del (p.Thr2289fs)
NM_014363.6(SACS):c.6871G>C (p.Asp2291His) rs1170939021
NM_014363.6(SACS):c.687A>G (p.Gln229=)
NM_014363.6(SACS):c.6891G>A (p.Leu2297=) rs775553857
NM_014363.6(SACS):c.6892A>C (p.Lys2298Gln)
NM_014363.6(SACS):c.6894_6897del (p.Lys2298_Glu2299insTer)
NM_014363.6(SACS):c.6897A>C (p.Glu2299Asp)
NM_014363.6(SACS):c.6897A>G (p.Glu2299=) rs2137605427
NM_014363.6(SACS):c.6900A>G (p.Val2300=)
NM_014363.6(SACS):c.6907T>A (p.Ser2303Thr)
NM_014363.6(SACS):c.690T>C (p.Cys230=)
NM_014363.6(SACS):c.6910G>A (p.Val2304Ile)
NM_014363.6(SACS):c.6916G>C (p.Asp2306His)
NM_014363.6(SACS):c.6927A>G (p.Thr2309=)
NM_014363.6(SACS):c.6928C>T (p.Leu2310=) rs1868666524
NM_014363.6(SACS):c.6930G>A (p.Leu2310=) rs780625472
NM_014363.6(SACS):c.6930G>C (p.Leu2310=)
NM_014363.6(SACS):c.6933C>T (p.Tyr2311=)
NM_014363.6(SACS):c.6942T>C (p.Asn2314=)
NM_014363.6(SACS):c.6951T>C (p.Asn2317=)
NM_014363.6(SACS):c.6953C>T (p.Ala2318Val)
NM_014363.6(SACS):c.6954T>C (p.Ala2318=) rs1481828108
NM_014363.6(SACS):c.6954T>G (p.Ala2318=)
NM_014363.6(SACS):c.696T>C (p.Asn232=) rs2031640
NM_014363.6(SACS):c.6970C>A (p.His2324Asn)
NM_014363.6(SACS):c.6978C>G (p.Ala2326=) rs2137604768
NM_014363.6(SACS):c.6994A>G (p.Ile2332Val)
NM_014363.6(SACS):c.6996C>T (p.Ile2332=) rs2137604621
NM_014363.6(SACS):c.6999T>C (p.Thr2333=) rs1414703183
NM_014363.6(SACS):c.7002G>A (p.Lys2334=)
NM_014363.6(SACS):c.7003A>G (p.Met2335Val)
NM_014363.6(SACS):c.7004T>C (p.Met2335Thr)
NM_014363.6(SACS):c.7009A>G (p.Ile2337Val)
NM_014363.6(SACS):c.7016A>G (p.Asp2339Gly)
NM_014363.6(SACS):c.7020G>A (p.Lys2340=)
NM_014363.6(SACS):c.7020_7024del (p.Leu2341fs)
NM_014363.6(SACS):c.7023A>G (p.Leu2341=) rs2137604397
NM_014363.6(SACS):c.7026A>G (p.Lys2342=)
NM_014363.6(SACS):c.7029C>A (p.Pro2343=)
NM_014363.6(SACS):c.7032T>C (p.Phe2344=) rs746413291
NM_014363.6(SACS):c.7038C>T (p.Phe2346=)
NM_014363.6(SACS):c.703G>T (p.Asp235Tyr)
NM_014363.6(SACS):c.7052A>G (p.Asn2351Ser)
NM_014363.6(SACS):c.7053T>C (p.Asn2351=)
NM_014363.6(SACS):c.7056A>C (p.Ala2352=) rs1199675216
NM_014363.6(SACS):c.7056A>T (p.Ala2352=) rs1199675216
NM_014363.6(SACS):c.7062T>G (p.Val2354=) rs1868650796
NM_014363.6(SACS):c.7068A>G (p.Ser2356=) rs1868650056
NM_014363.6(SACS):c.7070A>G (p.Glu2357Gly)
NM_014363.6(SACS):c.7079C>A (p.Ser2360Tyr)
NM_014363.6(SACS):c.7080_7084del (p.His2362fs) rs1294102415
NM_014363.6(SACS):c.7107A>C (p.Pro2369=)
NM_014363.6(SACS):c.7110C>T (p.Tyr2370=) rs1555251553
NM_014363.6(SACS):c.7113T>G (p.Leu2371=)
NM_014363.6(SACS):c.7117C>T (p.Gln2373Ter)
NM_014363.6(SACS):c.7125T>C (p.Pro2375=) rs1330112578
NM_014363.6(SACS):c.7127dup (p.Asn2376fs) rs2137603643
NM_014363.6(SACS):c.7128T>C (p.Asn2376=)
NM_014363.6(SACS):c.7131G>A (p.Lys2377=) rs1868643917
NM_014363.6(SACS):c.7134T>C (p.Tyr2378=) rs762475019
NM_014363.6(SACS):c.7139del (p.Asn2380fs) rs1057516689
NM_014363.6(SACS):c.7147del (p.Arg2383fs) rs1868641702
NM_014363.6(SACS):c.7148G>A (p.Arg2383His)
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs) rs1555251539
NM_014363.6(SACS):c.7163C>T (p.Thr2388Ile)
NM_014363.6(SACS):c.7167G>T (p.Val2389=)
NM_014363.6(SACS):c.7175G>A (p.Arg2392Lys)
NM_014363.6(SACS):c.7178A>G (p.Gln2393Arg)
NM_014363.6(SACS):c.7185C>G (p.Cys2395Trp)
NM_014363.6(SACS):c.7185C>T (p.Cys2395=)
NM_014363.6(SACS):c.7186A>G (p.Thr2396Ala)
NM_014363.6(SACS):c.718A>C (p.Ile240Leu)
NM_014363.6(SACS):c.7204C>G (p.Leu2402Val)
NM_014363.6(SACS):c.7209T>G (p.Val2403=)
NM_014363.6(SACS):c.720T>C (p.Ile240=)
NM_014363.6(SACS):c.7216T>C (p.Ser2406Pro) rs2137602722
NM_014363.6(SACS):c.7217C>A (p.Ser2406Tyr)
NM_014363.6(SACS):c.7219A>G (p.Ile2407Val)
NM_014363.6(SACS):c.7219_7220del (p.Ser2406_Ile2407insTer)
NM_014363.6(SACS):c.7221T>G (p.Ile2407Met)
NM_014363.6(SACS):c.7223A>G (p.Asp2408Gly)
NM_014363.6(SACS):c.7233A>G (p.Arg2411=)
NM_014363.6(SACS):c.7242G>A (p.Lys2414=) rs185902810
NM_014363.6(SACS):c.7250_7254del (p.Thr2417fs) rs1868628768
NM_014363.6(SACS):c.7252G>T (p.Glu2418Ter) rs2137602382
NM_014363.6(SACS):c.7255G>T (p.Glu2419Ter) rs2137602329
NM_014363.6(SACS):c.726A>G (p.Glu242=) rs2137728688
NM_014363.6(SACS):c.7272C>A (p.Cys2424Ter) rs1868626730
NM_014363.6(SACS):c.7272C>T (p.Cys2424=) rs1868626730
NM_014363.6(SACS):c.7274G>A (p.Arg2425Gln)
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter) rs786204750
NM_014363.6(SACS):c.7277G>A (p.Arg2426Gln)
NM_014363.6(SACS):c.727C>G (p.Leu243Val)
NM_014363.6(SACS):c.7284C>T (p.Ile2428=)
NM_014363.6(SACS):c.7296A>T (p.Ile2432=)
NM_014363.6(SACS):c.729T>G (p.Leu243=)
NM_014363.6(SACS):c.7302T>C (p.Ser2434=)
NM_014363.6(SACS):c.7304T>C (p.Leu2435Pro)
NM_014363.6(SACS):c.7306A>G (p.Ile2436Val) rs567650774
NM_014363.6(SACS):c.7316_7320del (p.Lys2439fs) rs2137601578
NM_014363.6(SACS):c.7319A>G (p.Lys2440Arg)
NM_014363.6(SACS):c.7321C>T (p.Gln2441Ter)
NM_014363.6(SACS):c.7322_7323del (p.Gln2441fs)
NM_014363.6(SACS):c.7325A>G (p.Glu2442Gly)
NM_014363.6(SACS):c.7326A>G (p.Glu2442=) rs2137601476
NM_014363.6(SACS):c.7338A>G (p.Lys2446=) rs1868618237
NM_014363.6(SACS):c.7346G>A (p.Gly2449Asp)
NM_014363.6(SACS):c.7350G>A (p.Lys2450=)
NM_014363.6(SACS):c.7351A>G (p.Ile2451Val)
NM_014363.6(SACS):c.7351A>T (p.Ile2451Leu)
NM_014363.6(SACS):c.7353A>G (p.Ile2451Met)
NM_014363.6(SACS):c.7362A>G (p.Pro2454=) rs2137601099
NM_014363.6(SACS):c.7368T>G (p.Thr2456=) rs2137601024
NM_014363.6(SACS):c.7376T>G (p.Met2459Arg)
NM_014363.6(SACS):c.7379_7380del (p.Leu2460fs)
NM_014363.6(SACS):c.7380T>G (p.Leu2460=)
NM_014363.6(SACS):c.7383C>A (p.Leu2461=)
NM_014363.6(SACS):c.7389T>C (p.Ala2463=)
NM_014363.6(SACS):c.7398dup (p.Cys2467fs)
NM_014363.6(SACS):c.7401C>T (p.Cys2467=)
NM_014363.6(SACS):c.7404C>T (p.Tyr2468=) rs2137600713
NM_014363.6(SACS):c.7415del (p.Pro2472fs) rs2137600629
NM_014363.6(SACS):c.7426G>A (p.Val2476Ile)
NM_014363.6(SACS):c.744A>C (p.Ala248=) rs1448438600
NM_014363.6(SACS):c.744A>G (p.Ala248=) rs1448438600
NM_014363.6(SACS):c.7455T>C (p.His2485=)
NM_014363.6(SACS):c.7458T>A (p.Ala2486=)
NM_014363.6(SACS):c.745C>T (p.Pro249Ser)
NM_014363.6(SACS):c.7464A>C (p.Ile2488=) rs1593127405
NM_014363.6(SACS):c.7464A>G (p.Ile2488Met) rs1593127405
NM_014363.6(SACS):c.7476A>G (p.Val2492=) rs1593127376
NM_014363.6(SACS):c.747A>G (p.Pro249=) rs1377168303
NM_014363.6(SACS):c.7482A>T (p.Val2494=) rs2137600030
NM_014363.6(SACS):c.7491A>C (p.Gly2497=)
NM_014363.6(SACS):c.7506A>G (p.Arg2502=)
NM_014363.6(SACS):c.7516T>C (p.Leu2506=) rs2137599675
NM_014363.6(SACS):c.7516_7522dup (p.Arg2508fs)
NM_014363.6(SACS):c.751G>A (p.Val251Ile) rs776176699
NM_014363.6(SACS):c.7520A>G (p.Glu2507Gly)
NM_014363.6(SACS):c.7521_7524del (p.Glu2507fs) rs1057516438
NM_014363.6(SACS):c.7539C>G (p.Val2513=) rs572529567
NM_014363.6(SACS):c.7539_7540del (p.Cys2514fs) rs1467848128
NM_014363.6(SACS):c.7548A>G (p.Thr2516=) rs2137599204
NM_014363.6(SACS):c.7582T>C (p.Leu2528=)
NM_014363.6(SACS):c.7585A>G (p.Thr2529Ala)
NM_014363.6(SACS):c.7586C>A (p.Thr2529Asn) rs1320224325
NM_014363.6(SACS):c.7587C>G (p.Thr2529=)
NM_014363.6(SACS):c.7587C>T (p.Thr2529=)
NM_014363.6(SACS):c.7601G>A (p.Ser2534Asn) rs750491874
NM_014363.6(SACS):c.7602C>T (p.Ser2534=)
NM_014363.6(SACS):c.7611T>C (p.Asn2537=)
NM_014363.6(SACS):c.7614A>G (p.Ala2538=) rs142697365
NM_014363.6(SACS):c.7617T>C (p.Tyr2539=) rs2137598731
NM_014363.6(SACS):c.7620T>A (p.Pro2540=)
NM_014363.6(SACS):c.7636T>C (p.Leu2546=)
NM_014363.6(SACS):c.7638G>A (p.Leu2546=)
NM_014363.6(SACS):c.7648del (p.Leu2550fs)
NM_014363.6(SACS):c.7655dup (p.Asn2552fs) rs1868578034
NM_014363.6(SACS):c.7662T>C (p.Asp2554=)
NM_014363.6(SACS):c.766A>G (p.Ser256Gly)
NM_014363.6(SACS):c.7679A>G (p.Glu2560Gly)
NM_014363.6(SACS):c.7686T>C (p.Cys2562=)
NM_014363.6(SACS):c.7686T>G (p.Cys2562Trp)
NM_014363.6(SACS):c.7687T>G (p.Phe2563Val)
NM_014363.6(SACS):c.7698T>C (p.Asp2566=) rs2137598118
NM_014363.6(SACS):c.7704A>G (p.Arg2568=) rs2137598061
NM_014363.6(SACS):c.7710T>C (p.His2570=)
NM_014363.6(SACS):c.7713A>T (p.Pro2571=) rs557113294
NM_014363.6(SACS):c.771C>T (p.Thr257=) rs2137728294
NM_014363.6(SACS):c.7725A>G (p.Ile2575Met)
NM_014363.6(SACS):c.7761A>G (p.Ala2587=) rs2137597595
NM_014363.6(SACS):c.7764_7767dup (p.Val2590fs) rs1868567420
NM_014363.6(SACS):c.777A>G (p.Glu259=)
NM_014363.6(SACS):c.7785A>G (p.Pro2595=) rs2137597409
NM_014363.6(SACS):c.7788del (p.Phe2596fs) rs1057516959
NM_014363.6(SACS):c.7794A>G (p.Glu2598=)
NM_014363.6(SACS):c.7794A>T (p.Glu2598Asp) rs1490465452
NM_014363.6(SACS):c.780A>G (p.Thr260=)
NM_014363.6(SACS):c.7812T>C (p.Ile2604=) rs1593127031
NM_014363.6(SACS):c.7830C>G (p.Gly2610=)
NM_014363.6(SACS):c.7839G>A (p.Glu2613=) rs2137596950
NM_014363.6(SACS):c.7844del (p.Asn2615fs) rs758572409
NM_014363.6(SACS):c.784A>G (p.Ile262Val)
NM_014363.6(SACS):c.7893T>C (p.His2631=)
NM_014363.6(SACS):c.7902C>T (p.Asp2634=) rs2137596562
NM_014363.6(SACS):c.7903del (p.Cys2635fs) rs1028098148
NM_014363.6(SACS):c.7911T>G (p.Ser2637=) rs369521544
NM_014363.6(SACS):c.7912T>C (p.Phe2638Leu)
NM_014363.6(SACS):c.7918T>C (p.Ser2640Pro) rs2137596408
NM_014363.6(SACS):c.7920T>C (p.Ser2640=) rs2137596372
NM_014363.6(SACS):c.7925A>G (p.Asn2642Ser)
NM_014363.6(SACS):c.7928_7937del (p.Asp2643fs)
NM_014363.6(SACS):c.7932C>T (p.Ile2644=) rs2137596232
NM_014363.6(SACS):c.7933C>T (p.Leu2645=)
NM_014363.6(SACS):c.7950T>C (p.Pro2650=) rs2137596152
NM_014363.6(SACS):c.7955C>T (p.Ala2652Val)
NM_014363.6(SACS):c.7962T>G (p.Tyr2654Ter)
NM_014363.6(SACS):c.7964C>T (p.Ala2655Val)
NM_014363.6(SACS):c.7965A>G (p.Ala2655=)
NM_014363.6(SACS):c.7977A>C (p.Thr2659=) rs2137595797
NM_014363.6(SACS):c.7989C>G (p.Pro2663=) rs766086455
NM_014363.6(SACS):c.7992A>G (p.Gly2664=) rs755531339
NM_014363.6(SACS):c.7993C>T (p.Arg2665Cys)
NM_014363.6(SACS):c.8004A>G (p.Arg2668=) rs2137595571
NM_014363.6(SACS):c.8013T>C (p.Asp2671=) rs2137595428
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_014363.6(SACS):c.8022T>G (p.Phe2674Leu) rs34928783
NM_014363.6(SACS):c.8028A>G (p.Thr2676=)
NM_014363.6(SACS):c.8034C>T (p.Phe2678=)
NM_014363.6(SACS):c.8034del (p.Ser2679fs) rs1220821559
NM_014363.6(SACS):c.8044C>T (p.Leu2682=) rs1340571633
NM_014363.6(SACS):c.8047G>T (p.Asp2683Tyr)
NM_014363.6(SACS):c.8056C>T (p.Leu2686=) rs748595405
NM_014363.6(SACS):c.8062A>G (p.Thr2688Ala)
NM_014363.6(SACS):c.8064C>A (p.Thr2688=) rs1868538797
NM_014363.6(SACS):c.8067T>C (p.His2689=)
NM_014363.6(SACS):c.8074C>A (p.Leu2692Met)
NM_014363.6(SACS):c.8085C>T (p.Cys2695=)
NM_014363.6(SACS):c.8088A>T (p.Thr2696=) rs1868536944
NM_014363.6(SACS):c.8107C>T (p.Arg2703Cys) rs780332615
NM_014363.6(SACS):c.810T>C (p.Phe270=) rs116907814
NM_014363.6(SACS):c.813C>T (p.Phe271=) rs2137727948
NM_014363.6(SACS):c.8142G>T (p.Ser2714=) rs530250252
NM_014363.6(SACS):c.8145T>A (p.Ser2715=)
NM_014363.6(SACS):c.8148del (p.Pro2717fs)
NM_014363.6(SACS):c.8157A>G (p.Ser2719=)
NM_014363.6(SACS):c.815G>A (p.Arg272His) rs745907077
NM_014363.6(SACS):c.8161A>G (p.Arg2721Gly) rs1868522362
NM_014363.6(SACS):c.8169C>A (p.Val2723=)
NM_014363.6(SACS):c.8169C>G (p.Val2723=)
NM_014363.6(SACS):c.8169C>T (p.Val2723=) rs771919940
NM_014363.6(SACS):c.8179T>C (p.Leu2727=) rs1868521401
NM_014363.6(SACS):c.8187A>G (p.Lys2729=) rs1566063362
NM_014363.6(SACS):c.8189_8190del (p.Leu2730fs)
NM_014363.6(SACS):c.8190G>A (p.Leu2730=) rs1593126657
NM_014363.6(SACS):c.8193C>T (p.Arg2731=)
NM_014363.6(SACS):c.8196_8199del (p.Asp2733fs) rs2137594187
NM_014363.6(SACS):c.8199T>C (p.Asp2733=)
NM_014363.6(SACS):c.8203G>A (p.Ala2735Thr)
NM_014363.6(SACS):c.8204C>T (p.Ala2735Val)
NM_014363.6(SACS):c.8209C>T (p.Leu2737Phe)
NM_014363.6(SACS):c.8211T>C (p.Leu2737=)
NM_014363.6(SACS):c.8214A>G (p.Leu2738=) rs780464110
NM_014363.6(SACS):c.8222T>C (p.Leu2741Pro)
NM_014363.6(SACS):c.8226T>C (p.Asn2742=) rs2137593985
NM_014363.6(SACS):c.8232G>A (p.Met2744Ile)
NM_014363.6(SACS):c.8238A>C (p.Lys2746Asn) rs1029961212
NM_014363.6(SACS):c.8238_8239dup (p.Ile2747fs) rs779248938
NM_014363.6(SACS):c.8241T>C (p.Ile2747=) rs2137593811
NM_014363.6(SACS):c.8251del (p.Glu2751fs)
NM_014363.6(SACS):c.8254A>C (p.Ile2752Leu) rs375814343
NM_014363.6(SACS):c.8254A>G (p.Ile2752Val)
NM_014363.6(SACS):c.8258A>G (p.Asp2753Gly)
NM_014363.6(SACS):c.8258A>T (p.Asp2753Val)
NM_014363.6(SACS):c.825T>A (p.Leu275=) rs2137727818
NM_014363.6(SACS):c.8261dup (p.Ser2755fs) rs2137593625
NM_014363.6(SACS):c.8264del (p.Ser2755fs)
NM_014363.6(SACS):c.8267C>T (p.Thr2756Ile)
NM_014363.6(SACS):c.826C>T (p.Arg276Cys)
NM_014363.6(SACS):c.8272G>A (p.Ala2758Thr)
NM_014363.6(SACS):c.8275C>T (p.Leu2759=)
NM_014363.6(SACS):c.8277A>G (p.Leu2759=) rs964594403
NM_014363.6(SACS):c.8277A>T (p.Leu2759=)
NM_014363.6(SACS):c.8283G>A (p.Val2761=)
NM_014363.6(SACS):c.8286G>A (p.Leu2762=) rs2137593411
NM_014363.6(SACS):c.8288A>G (p.Tyr2763Cys)
NM_014363.6(SACS):c.8295A>G (p.Val2765=) rs2137593329
NM_014363.6(SACS):c.8300G>A (p.Gly2767Asp)
NM_014363.6(SACS):c.8319C>T (p.Asp2773=) rs1199179557
NM_014363.6(SACS):c.8323T>C (p.Leu2775=) rs1868501939
NM_014363.6(SACS):c.8349T>C (p.Ser2783=)
NM_014363.6(SACS):c.8352A>C (p.Val2784=) rs1453849346
NM_014363.6(SACS):c.8362G>A (p.Val2788Ile)
NM_014363.6(SACS):c.8364T>C (p.Val2788=)
NM_014363.6(SACS):c.8367T>C (p.Thr2789=)
NM_014363.6(SACS):c.8377C>T (p.Gln2793Ter) rs1240368715
NM_014363.6(SACS):c.8384A>G (p.Lys2795Arg)
NM_014363.6(SACS):c.8385dup (p.Asp2796fs)
NM_014363.6(SACS):c.8388_8402del (p.Asp2796_Gln2801delinsGlu) rs1593126382
NM_014363.6(SACS):c.8390dup (p.Pro2798fs)
NM_014363.6(SACS):c.8395G>C (p.Val2799Leu)
NM_014363.6(SACS):c.8409C>G (p.Thr2803=) rs746612218
NM_014363.6(SACS):c.8409C>T (p.Thr2803=) rs746612218
NM_014363.6(SACS):c.840A>C (p.Ser280=)
NM_014363.6(SACS):c.8417T>C (p.Met2806Thr)
NM_014363.6(SACS):c.8427G>A (p.Glu2809=) rs2137592068
NM_014363.6(SACS):c.8437G>A (p.Gly2813Arg)
NM_014363.6(SACS):c.843A>G (p.Gln281=)
NM_014363.6(SACS):c.8448T>C (p.Thr2816=)
NM_014363.6(SACS):c.8451G>A (p.Thr2817=) rs749291377
NM_014363.6(SACS):c.8451G>C (p.Thr2817=) rs749291377
NM_014363.6(SACS):c.8454G>A (p.Trp2818Ter) rs1868481514
NM_014363.6(SACS):c.8455C>T (p.Leu2819=)
NM_014363.6(SACS):c.8471C>G (p.Ser2824Ter) rs1868480299
NM_014363.6(SACS):c.8490G>C (p.Glu2830Asp)
NM_014363.6(SACS):c.8496A>T (p.Val2832=) rs2137591469
NM_014363.6(SACS):c.8499T>C (p.Ser2833=)
NM_014363.6(SACS):c.8505T>C (p.Ser2835=) rs1868476676
NM_014363.6(SACS):c.8509A>G (p.Ile2837Val)
NM_014363.6(SACS):c.8511A>G (p.Ile2837Met)
NM_014363.6(SACS):c.8514A>C (p.Ser2838=) rs2137591232
NM_014363.6(SACS):c.8520C>T (p.His2840=)
NM_014363.6(SACS):c.8529A>G (p.Gln2843=) rs2137591155
NM_014363.6(SACS):c.8532T>C (p.Asp2844=)
NM_014363.6(SACS):c.8538T>A (p.Thr2846=) rs1593126169
NM_014363.6(SACS):c.8541T>C (p.Leu2847=) rs546729483
NM_014363.6(SACS):c.8565C>T (p.Ala2855=) rs774758836
NM_014363.6(SACS):c.8571T>A (p.Ile2857=)
NM_014363.6(SACS):c.8571T>C (p.Ile2857=)
NM_014363.6(SACS):c.8574T>C (p.Thr2858=)
NM_014363.6(SACS):c.8575C>G (p.His2859Asp)
NM_014363.6(SACS):c.8583T>C (p.Tyr2861=)
NM_014363.6(SACS):c.8584A>T (p.Lys2862Ter) rs2137590717
NM_014363.6(SACS):c.858C>T (p.Leu286=) rs1870340453
NM_014363.6(SACS):c.8604C>T (p.Phe2868=) rs1031471964
NM_014363.6(SACS):c.8610T>C (p.Phe2870=)
NM_014363.6(SACS):c.8619T>C (p.Leu2873=)
NM_014363.6(SACS):c.8621_8624del (p.Ser2874fs) rs753012964
NM_014363.6(SACS):c.8623T>C (p.Leu2875=)
NM_014363.6(SACS):c.862_863delinsTC (p.Asn288Ser) rs1555254433
NM_014363.6(SACS):c.8631T>G (p.Thr2877=) rs2137590401
NM_014363.6(SACS):c.863A>G (p.Asn288Ser)
NM_014363.6(SACS):c.8640A>G (p.Pro2880=)
NM_014363.6(SACS):c.8641T>G (p.Phe2881Val)
NM_014363.6(SACS):c.8655C>T (p.Gly2885=)
NM_014363.6(SACS):c.866A>C (p.Lys289Thr)
NM_014363.6(SACS):c.8692C>T (p.Arg2898Cys)
NM_014363.6(SACS):c.8694T>A (p.Arg2898=)
NM_014363.6(SACS):c.8700T>C (p.Asp2900=) rs1207531130
NM_014363.6(SACS):c.8702A>G (p.Asn2901Ser)
NM_014363.6(SACS):c.8712T>C (p.Gly2904=)
NM_014363.6(SACS):c.8727G>A (p.Trp2909Ter) rs1555250949
NM_014363.6(SACS):c.8740A>G (p.Met2914Val)
NM_014363.6(SACS):c.8765dup (p.Tyr2922Ter) rs2137589721
NM_014363.6(SACS):c.8773T>C (p.Leu2925=) rs2137589672
NM_014363.6(SACS):c.8778A>G (p.Leu2926=)
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014363.6(SACS):c.8793dup (p.Arg2932fs) rs767871841
NM_014363.6(SACS):c.8794C>T (p.Arg2932Trp) rs370913893
NM_014363.6(SACS):c.8795G>A (p.Arg2932Gln)
NM_014363.6(SACS):c.8796G>C (p.Arg2932=)
NM_014363.6(SACS):c.8797T>C (p.Tyr2933His)
NM_014363.6(SACS):c.8799T>A (p.Tyr2933Ter)
NM_014363.6(SACS):c.879T>A (p.Leu293=)
NM_014363.6(SACS):c.879T>C (p.Leu293=)
NM_014363.6(SACS):c.8803C>T (p.Pro2935Ser)
NM_014363.6(SACS):c.8804C>T (p.Pro2935Leu)
NM_014363.6(SACS):c.8807del (p.Gly2936fs)
NM_014363.6(SACS):c.8809T>A (p.Ser2937Thr)
NM_014363.6(SACS):c.8816C>T (p.Pro2939Leu)
NM_014363.6(SACS):c.8819C>T (p.Thr2940Ile)
NM_014363.6(SACS):c.8822T>C (p.Leu2941Ser)
NM_014363.6(SACS):c.8822T>G (p.Leu2941Ter) rs530269705
NM_014363.6(SACS):c.8823A>G (p.Leu2941=)
NM_014363.6(SACS):c.8828T>C (p.Val2943Ala)
NM_014363.6(SACS):c.8835G>A (p.Gln2945=) rs1868447934
NM_014363.6(SACS):c.8838C>T (p.Asn2946=) rs2137588990
NM_014363.6(SACS):c.8841C>G (p.Thr2947=)
NM_014363.6(SACS):c.8844T>G (p.Pro2948=)
NM_014363.6(SACS):c.8849A>C (p.His2950Pro)
NM_014363.6(SACS):c.8853T>G (p.Val2951=) rs9552929
NM_014363.6(SACS):c.8864C>A (p.Thr2955Asn)
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg) rs11839380
NM_014363.6(SACS):c.888T>C (p.Phe296=)
NM_014363.6(SACS):c.8904T>C (p.Leu2968=) rs2137588252
NM_014363.6(SACS):c.8907T>C (p.Asp2969=)
NM_014363.6(SACS):c.8911C>T (p.Gln2971Ter)
NM_014363.6(SACS):c.891G>A (p.Glu297=) rs2137727218
NM_014363.6(SACS):c.8925T>C (p.Tyr2975=) rs971494277
NM_014363.6(SACS):c.8928T>C (p.Cys2976=) rs756222456
NM_014363.6(SACS):c.8931A>T (p.Leu2977=) rs376228714
NM_014363.6(SACS):c.8934G>A (p.Val2978=)
NM_014363.6(SACS):c.8955del (p.His2986fs) rs1228783766
NM_014363.6(SACS):c.897T>C (p.Phe299=) rs2137727190
NM_014363.6(SACS):c.8992G>C (p.Ala2998Pro)
NM_014363.6(SACS):c.8994T>A (p.Ala2998=) rs2137587608
NM_014363.6(SACS):c.9009C>T (p.Gly3003=)
NM_014363.6(SACS):c.9015C>T (p.Asp3005=) rs769712713
NM_014363.6(SACS):c.9021C>T (p.His3007=) rs1868427865
NM_014363.6(SACS):c.9024T>G (p.Ser3008=) rs2137587321
NM_014363.6(SACS):c.9039T>C (p.Thr3013=)
NM_014363.6(SACS):c.903A>G (p.Ala301=)
NM_014363.6(SACS):c.9052T>C (p.Ser3018Pro)
NM_014363.6(SACS):c.9057T>C (p.Thr3019=) rs1180500330
NM_014363.6(SACS):c.9063T>G (p.Asn3021Lys)
NM_014363.6(SACS):c.9069_9070del (p.Arg3024fs) rs1868424934
NM_014363.6(SACS):c.906T>G (p.Asp302Glu)
NM_014363.6(SACS):c.9073C>T (p.Pro3025Ser)
NM_014363.6(SACS):c.9075A>G (p.Pro3025=)
NM_014363.6(SACS):c.9087T>C (p.Asn3029=)
NM_014363.6(SACS):c.9088_9089dup (p.Leu3030fs) rs1057517060
NM_014363.6(SACS):c.9093A>G (p.Leu3031=) rs1350252405
NM_014363.6(SACS):c.9096G>T (p.Gln3032His)
NM_014363.6(SACS):c.9103T>G (p.Leu3035Val)
NM_014363.6(SACS):c.9106C>T (p.Gln3036Ter)
NM_014363.6(SACS):c.9107A>G (p.Gln3036Arg)
NM_014363.6(SACS):c.9111C>T (p.His3037=) rs2137586671
NM_014363.6(SACS):c.9114T>A (p.Leu3038=) rs1198368369
NM_014363.6(SACS):c.9119dup (p.Asn3040fs) rs1435126137
NM_014363.6(SACS):c.9123A>G (p.Ala3041=) rs2137586583
NM_014363.6(SACS):c.9129T>C (p.Tyr3043=)
NM_014363.6(SACS):c.9132T>C (p.Asn3044=) rs2137586506
NM_014363.6(SACS):c.9133A>G (p.Ile3045Val)
NM_014363.6(SACS):c.9142C>T (p.Arg3048Cys)
NM_014363.6(SACS):c.9143G>A (p.Arg3048His) rs553929593
NM_014363.6(SACS):c.9156dup (p.Glu3053fs)
NM_014363.6(SACS):c.9163G>A (p.Val3055Ile)
NM_014363.6(SACS):c.9164T>C (p.Val3055Ala)
NM_014363.6(SACS):c.9167A>G (p.Tyr3056Cys)
NM_014363.6(SACS):c.9170G>A (p.Arg3057Lys)
NM_014363.6(SACS):c.9174G>A (p.Leu3058=)
NM_014363.6(SACS):c.9183C>T (p.Leu3061=) rs2137586200
NM_014363.6(SACS):c.9195T>C (p.Ile3065=) rs2137586072
NM_014363.6(SACS):c.9203A>G (p.Asn3068Ser)
NM_014363.6(SACS):c.9205T>C (p.Leu3069=)
NM_014363.6(SACS):c.9212A>G (p.Tyr3071Cys)
NM_014363.6(SACS):c.9219_9220del (p.Cys3073_Asp3074delinsTer)
NM_014363.6(SACS):c.921G>A (p.Leu307=) rs1870332993
NM_014363.6(SACS):c.922C>T (p.Leu308Phe)
NM_014363.6(SACS):c.9231T>A (p.Ala3077=)
NM_014363.6(SACS):c.9231T>C (p.Ala3077=) rs779640503
NM_014363.6(SACS):c.9233del (p.Asn3078fs) rs1593125341
NM_014363.6(SACS):c.9237T>C (p.Leu3079=)
NM_014363.6(SACS):c.9238T>C (p.Tyr3080His)
NM_014363.6(SACS):c.9241C>T (p.His3081Tyr)
NM_014363.6(SACS):c.9245G>A (p.Cys3082Tyr)
NM_014363.6(SACS):c.9249T>C (p.Leu3083=)
NM_014363.6(SACS):c.9249del (p.Leu3083_Ile3084insTer) rs1868403104
NM_014363.6(SACS):c.9257C>T (p.Ala3086Val)
NM_014363.6(SACS):c.9258A>G (p.Ala3086=) rs2137585518
NM_014363.6(SACS):c.9259G>A (p.Asp3087Asn) rs2137585503
NM_014363.6(SACS):c.9266C>T (p.Pro3089Leu) rs1593125290
NM_014363.6(SACS):c.9266del (p.Pro3089fs)
NM_014363.6(SACS):c.9267T>C (p.Pro3089=)
NM_014363.6(SACS):c.9273T>C (p.Ser3091=) rs2137585391
NM_014363.6(SACS):c.9276T>C (p.Tyr3092=) rs2137585334
NM_014363.6(SACS):c.9282C>T (p.Thr3094=)
NM_014363.6(SACS):c.9284del (p.Pro3095fs)
NM_014363.6(SACS):c.9292dup (p.Ile3098fs)
NM_014363.6(SACS):c.9293T>G (p.Ile3098Ser)
NM_014363.6(SACS):c.9310A>G (p.Thr3104Ala)
NM_014363.6(SACS):c.9328A>G (p.Thr3110Ala) rs1883705967
NM_014363.6(SACS):c.9330T>C (p.Thr3110=)
NM_014363.6(SACS):c.9336C>T (p.Cys3112=) rs2137584765
NM_014363.6(SACS):c.9346_9354dup (p.Lys3116_Pro3118dup) rs2137584629
NM_014363.6(SACS):c.9348G>A (p.Lys3116=)
NM_014363.6(SACS):c.9353C>T (p.Pro3118Leu)
NM_014363.6(SACS):c.9358C>T (p.Arg3120Cys)
NM_014363.6(SACS):c.9359G>A (p.Arg3120His)
NM_014363.6(SACS):c.9359G>T (p.Arg3120Leu) rs569955570
NM_014363.6(SACS):c.9361C>T (p.Leu3121=) rs2137584537
NM_014363.6(SACS):c.9367C>T (p.Gln3123Ter) rs2137584477
NM_014363.6(SACS):c.9372T>A (p.Thr3124=) rs2137584446
NM_014363.6(SACS):c.9381A>G (p.Lys3127=) rs2137584369
NM_014363.6(SACS):c.9386T>C (p.Phe3129Ser)
NM_014363.6(SACS):c.9389A>G (p.His3130Arg)
NM_014363.6(SACS):c.9390T>C (p.His3130=)
NM_014363.6(SACS):c.939G>A (p.Val313=) rs1196445565
NM_014363.6(SACS):c.939G>T (p.Val313=) rs1196445565
NM_014363.6(SACS):c.9403T>C (p.Leu3135=) rs867103476
NM_014363.6(SACS):c.9405A>G (p.Leu3135=) rs866488144
NM_014363.6(SACS):c.9408T>C (p.Val3136=)
NM_014363.6(SACS):c.9410A>G (p.Asp3137Gly)
NM_014363.6(SACS):c.9411T>C (p.Asp3137=)
NM_014363.6(SACS):c.9417T>C (p.Cys3139=) rs2137584002
NM_014363.6(SACS):c.9417_9433del (p.Cys3139_Glu3145delinsTer) rs2137583946
NM_014363.6(SACS):c.941A>G (p.Gln314Arg)
NM_014363.6(SACS):c.9420T>C (p.Phe3140=)
NM_014363.6(SACS):c.9443T>C (p.Ile3148Thr)
NM_014363.6(SACS):c.9462C>G (p.Pro3154=)
NM_014363.6(SACS):c.9465T>C (p.Leu3155=) rs1593125038
NM_014363.6(SACS):c.9468C>T (p.Leu3156=)
NM_014363.6(SACS):c.9475C>T (p.Leu3159=)
NM_014363.6(SACS):c.9476T>C (p.Leu3159Pro)
NM_014363.6(SACS):c.9484G>A (p.Val3162Ile)
NM_014363.6(SACS):c.9484_9496del (p.Val3162fs)
NM_014363.6(SACS):c.948T>C (p.Val316=)
NM_014363.6(SACS):c.9504A>T (p.Ala3168=)
NM_014363.6(SACS):c.9508_9518del (p.Arg3170fs)
NM_014363.6(SACS):c.9509G>A (p.Arg3170Gln)
NM_014363.6(SACS):c.9510A>C (p.Arg3170=) rs2137583405
NM_014363.6(SACS):c.9515A>G (p.Lys3172Arg)
NM_014363.6(SACS):c.9519T>C (p.Phe3173=) rs780746393
NM_014363.6(SACS):c.9519T>G (p.Phe3173Leu) rs780746393
NM_014363.6(SACS):c.951C>T (p.Ser317=) rs2137726663
NM_014363.6(SACS):c.9528A>G (p.Thr3176=)
NM_014363.6(SACS):c.9534T>C (p.His3178=) rs1029799719
NM_014363.6(SACS):c.9543T>A (p.Ile3181=)
NM_014363.6(SACS):c.9549C>T (p.Ser3183=)
NM_014363.6(SACS):c.9558C>T (p.Asp3186=)
NM_014363.6(SACS):c.9561_9564del (p.Leu3187_Phe3188insTer) rs1060503431
NM_014363.6(SACS):c.9569A>G (p.Asn3190Ser)
NM_014363.6(SACS):c.956A>T (p.Tyr319Phe)
NM_014363.6(SACS):c.9576A>G (p.Leu3192=)
NM_014363.6(SACS):c.9576_9580del (p.Leu3192fs) rs1883687132
NM_014363.6(SACS):c.9579T>C (p.Tyr3193=)
NM_014363.6(SACS):c.957T>C (p.Tyr319=)
NM_014363.6(SACS):c.9591T>C (p.Ser3197=) rs764477877
NM_014363.6(SACS):c.9594T>C (p.Asn3198=)
NM_014363.6(SACS):c.9601T>C (p.Leu3201=)
NM_014363.6(SACS):c.9605A>C (p.Asn3202Thr)
NM_014363.6(SACS):c.9608G>A (p.Cys3203Tyr)
NM_014363.6(SACS):c.960C>T (p.Val320=)
NM_014363.6(SACS):c.9618A>C (p.Ala3206=)
NM_014363.6(SACS):c.9619A>G (p.Lys3207Glu)
NM_014363.6(SACS):c.961C>T (p.Arg321Ter) rs1175545518
NM_014363.6(SACS):c.9630C>T (p.Asp3210=)
NM_014363.6(SACS):c.9637A>G (p.Ser3213Gly)
NM_014363.6(SACS):c.9642T>C (p.Phe3214=) rs2137582243
NM_014363.6(SACS):c.9645T>G (p.Ala3215=)
NM_014363.6(SACS):c.9651G>A (p.Leu3217=) rs778613923
NM_014363.6(SACS):c.9657C>T (p.Ser3219=)
NM_014363.6(SACS):c.9659_9660del (p.Ser3220fs) rs2137582027
NM_014363.6(SACS):c.9663G>A (p.Val3221=)
NM_014363.6(SACS):c.9668C>T (p.Pro3223Leu)
NM_014363.6(SACS):c.9670C>T (p.Arg3224Ter) rs751568153
NM_014363.6(SACS):c.9671G>C (p.Arg3224Pro) rs763546908
NM_014363.6(SACS):c.9675A>G (p.Glu3225=)
NM_014363.6(SACS):c.9678T>C (p.Tyr3226=) rs2137581806
NM_014363.6(SACS):c.9678T>G (p.Tyr3226Ter)
NM_014363.6(SACS):c.9683C>T (p.Thr3228Ile)
NM_014363.6(SACS):c.9684C>G (p.Thr3228=)
NM_014363.6(SACS):c.9692G>A (p.Cys3231Tyr)
NM_014363.6(SACS):c.9696A>G (p.Thr3232=) rs1301795803
NM_014363.6(SACS):c.9699G>A (p.Lys3233=) rs1593124697
NM_014363.6(SACS):c.9702G>A (p.Trp3234Ter) rs2137581531
NM_014363.6(SACS):c.9708C>A (p.Asp3236Glu)
NM_014363.6(SACS):c.9710A>G (p.Asn3237Ser)
NM_014363.6(SACS):c.972C>A (p.Asp324Glu) rs546652936
NM_014363.6(SACS):c.972C>T (p.Asp324=) rs546652936
NM_014363.6(SACS):c.9744G>A (p.Trp3248Ter) rs1883673959
NM_014363.6(SACS):c.974G>A (p.Gly325Glu)
NM_014363.6(SACS):c.9759A>G (p.Glu3253=) rs1883673090
NM_014363.6(SACS):c.9762T>A (p.Ser3254=) rs1883672788
NM_014363.6(SACS):c.9764dup (p.Ser3256fs)
NM_014363.6(SACS):c.9769G>T (p.Val3257Leu)
NM_014363.6(SACS):c.9771G>A (p.Val3257=) rs2137580934
NM_014363.6(SACS):c.9771G>C (p.Val3257=)
NM_014363.6(SACS):c.9786A>G (p.Glu3262=)
NM_014363.6(SACS):c.978A>G (p.Thr326=)
NM_014363.6(SACS):c.9791C>A (p.Thr3264Lys)
NM_014363.6(SACS):c.9801A>G (p.Thr3267=) rs765872254
NM_014363.6(SACS):c.9807C>T (p.Asp3269=)
NM_014363.6(SACS):c.9808_9810del (p.Ile3270del)
NM_014363.6(SACS):c.9815T>G (p.Val3272Gly)
NM_014363.6(SACS):c.9821C>G (p.Thr3274Ser)
NM_014363.6(SACS):c.9828A>T (p.Lys3276Asn)
NM_014363.6(SACS):c.9831C>T (p.Asp3277=)
NM_014363.6(SACS):c.9834G>A (p.Trp3278Ter) rs1174846895
NM_014363.6(SACS):c.9837A>G (p.Ala3279=) rs2137580360
NM_014363.6(SACS):c.9846A>C (p.Pro3282=) rs61753111
NM_014363.6(SACS):c.9850A>G (p.Thr3284Ala)
NM_014363.6(SACS):c.9858T>G (p.Phe3286Leu)
NM_014363.6(SACS):c.9861T>C (p.Thr3287=) rs2137580158
NM_014363.6(SACS):c.9866C>G (p.Ser3289Ter) rs2137580127
NM_014363.6(SACS):c.9873C>T (p.Asn3291=) rs2137580081
NM_014363.6(SACS):c.9888T>G (p.Pro3296=) rs755440793
NM_014363.6(SACS):c.9891A>G (p.Glu3297=) rs528073122
NM_014363.6(SACS):c.9903G>C (p.Leu3301=)
NM_014363.6(SACS):c.9906T>A (p.Leu3302=)
NM_014363.6(SACS):c.9909T>C (p.Pro3303=)
NM_014363.6(SACS):c.9910C>T (p.Leu3304Phe)
NM_014363.6(SACS):c.9912C>T (p.Leu3304=) rs1593124372
NM_014363.6(SACS):c.9919A>C (p.Met3307Leu)
NM_014363.6(SACS):c.9925A>G (p.Ile3309Val)
NM_014363.6(SACS):c.9927T>G (p.Ile3309Met)
NM_014363.6(SACS):c.9938C>T (p.Pro3313Leu)
NM_014363.6(SACS):c.993T>C (p.Phe331=) rs1870321510
NM_014363.6(SACS):c.9948G>A (p.Gln3316=)
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.9956_9957del (p.Lys3319fs) rs772704931
NM_014363.6(SACS):c.9968C>T (p.Ala3323Val)
NM_014363.6(SACS):c.9969T>C (p.Ala3323=)
NM_014363.6(SACS):c.9970C>T (p.Leu3324=)
NM_014363.6(SACS):c.9972A>G (p.Leu3324=) rs772412510
NM_014363.6(SACS):c.9972A>T (p.Leu3324=) rs772412510
NM_014363.6(SACS):c.9981T>G (p.Ala3327=)
NM_014363.6(SACS):c.9987T>A (p.Cys3329Ter) rs2137578916
NM_014363.6(SACS):c.999G>C (p.Val333=) rs2137726131
NM_014363.6(SACS):c.9C>T (p.Thr3=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.