ClinVar Miner

List of variants in gene SACS

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Gene type:
ClinVar version:
Total variants: 3997
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.10338G>A (p.Gln3446=) rs2737701 0.98600
NM_014363.6(SACS):c.172-231A>G rs2766104 0.87552
NM_014363.6(SACS):c.9981T>C (p.Ala3327=) rs2737700 0.36123
NM_014363.6(SACS):c.-13A>G rs17078720 0.27905
NM_014363.6(SACS):c.6195T>C (p.Ile2065=) rs4143768 0.21785
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929 0.21755
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala) rs17078605 0.21747
NM_014363.6(SACS):c.12304T>C (p.Leu4102=) rs2737699 0.21736
NM_014363.6(SACS):c.696T>A (p.Asn232Lys) rs2031640 0.08558
NM_014363.6(SACS):c.1656A>G (p.Leu552=) rs1536365 0.08543
NM_014363.6(SACS):c.605-99C>T rs2031641 0.06176
NM_014363.6(SACS):c.259+32C>T rs61421223 0.05132
NM_014363.6(SACS):c.259+254C>T rs111371229 0.05128
NM_014363.6(SACS):c.-501-284G>A rs145010681 0.03363
NM_014363.6(SACS):c.909A>G (p.Ala303=) rs41315020 0.03313
NM_014363.6(SACS):c.-531G>A rs73154650 0.02896
NM_014363.6(SACS):c.1839G>A (p.Gln613=) rs35840595 0.02863
NM_014363.6(SACS):c.-501-343G>A rs61946972 0.02791
NM_014363.6(SACS):c.-501-337C>G rs142636415 0.02657
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr) rs17325713 0.02528
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala) rs17078601 0.02418
NM_014363.6(SACS):c.2094-182C>T rs9578585 0.02106
NM_014363.6(SACS):c.346-47G>A rs9510706 0.01795
NM_014363.6(SACS):c.260-232C>G rs112304991 0.01470
NM_014363.6(SACS):c.7149C>T (p.Arg2383=) rs17078608 0.01409
NM_014363.6(SACS):c.605-121G>C rs74614483 0.01248
NM_014363.6(SACS):c.20+190T>G rs114384992 0.01195
NM_014363.6(SACS):c.-501-219G>A rs115681764 0.01082
NM_014363.6(SACS):c.-219A>G rs74495070 0.01003
NM_014363.6(SACS):c.10305T>C (p.Ser3435=) rs35670472 0.00986
NM_014363.6(SACS):c.12762C>T (p.Ser4254=) rs11554397 0.00978
NM_014363.6(SACS):c.*916T>A rs75389729 0.00926
NM_014363.6(SACS):c.-303C>T rs116758349 0.00909
NM_014363.6(SACS):c.-278G>A rs78682319 0.00908
NM_014363.6(SACS):c.-39T>G rs17078721 0.00873
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469 0.00804
NM_014363.6(SACS):c.605-319A>C rs116419735 0.00801
NM_014363.6(SACS):c.8345C>T (p.Ala2782Val) rs61742500 0.00776
NM_014363.6(SACS):c.8344G>A (p.Ala2782Thr) rs61742502 0.00775
NM_014363.6(SACS):c.458-213A>G rs116246188 0.00751
NM_014363.6(SACS):c.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.605-64T>C rs541474163 0.00438
NM_014363.6(SACS):c.*821A>G rs145184122 0.00401
NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser) rs80132141 0.00343
NM_014363.6(SACS):c.*625T>A rs186505479 0.00341
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787 0.00332
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361 0.00292
NM_014363.6(SACS):c.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.-367C>A rs145469796 0.00245
NM_014363.6(SACS):c.-59C>A rs150561537 0.00242
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939 0.00236
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00227
NM_014363.6(SACS):c.*777T>C rs77645021 0.00211
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856 0.00198
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_014363.6(SACS):c.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.*1108G>A rs139956143 0.00098
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile) rs150981983 0.00097
NM_014363.6(SACS):c.-331A>C rs560626127 0.00092
NM_014363.6(SACS):c.1378C>T (p.Leu460Phe) rs145213666 0.00091
NM_014363.6(SACS):c.12813T>G (p.Pro4271=) rs146376949 0.00087
NM_014363.6(SACS):c.-173C>A rs139517739 0.00085
NM_014363.6(SACS):c.1917A>G (p.Ala639=) rs138457742 0.00084
NM_014363.6(SACS):c.8972G>A (p.Arg2991His) rs192610957 0.00084
NM_014363.6(SACS):c.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.*569G>A rs554938605 0.00039
NM_014363.6(SACS):c.*942A>G rs886050068 0.00037
NM_014363.6(SACS):c.1278A>T (p.Leu426Phe) rs138413501 0.00036
NM_014363.6(SACS):c.3144A>G (p.Val1048=) rs3751369 0.00035
NM_014363.6(SACS):c.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.*222T>C rs577703833 0.00029
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.*394G>A rs956360764 0.00016
NM_014363.6(SACS):c.11703T>C (p.Asn3901=) rs146154135 0.00016
NM_014363.6(SACS):c.12765G>A (p.Arg4255=) rs139692779 0.00016
NM_014363.6(SACS):c.13272C>T (p.Ala4424=) rs567495567 0.00016
NM_014363.6(SACS):c.1444C>G (p.Leu482Val) rs141487769 0.00016
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr) rs76872266 0.00016
NM_014363.6(SACS):c.4302A>G (p.Leu1434=) rs34559250 0.00016
NM_014363.6(SACS):c.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.2423T>C (p.Leu808Pro) rs923118368 0.00006
NM_014363.6(SACS):c.2487C>T (p.Asp829=) rs151198216 0.00006
NM_014363.6(SACS):c.2551G>T (p.Val851Phe) rs756890722 0.00006
NM_014363.6(SACS):c.2776A>G (p.Ile926Val) rs144362131 0.00006
NM_014363.6(SACS):c.2788A>G (p.Ile930Val) rs886050088 0.00006
NM_014363.6(SACS):c.3768C>T (p.Tyr1256=) rs200350631 0.00006
NM_014363.6(SACS):c.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.*1200A>G rs558041482 0.00004
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.10737G>A (p.Met3579Ile) rs199970621 0.00004
NM_014363.6(SACS):c.10983G>A (p.Ala3661=) rs200900703 0.00004
NM_014363.6(SACS):c.11049T>C (p.Asn3683=) rs773770705 0.00004
NM_014363.6(SACS):c.11161G>A (p.Gly3721Ser) rs780789569 0.00004
NM_014363.6(SACS):c.11276C>T (p.Thr3759Met) rs751176093 0.00004
NM_014363.6(SACS):c.11301A>T (p.Lys3767Asn) rs762041995 0.00004
NM_014363.6(SACS):c.11327T>C (p.Ile3776Thr) rs145188410 0.00004
NM_014363.6(SACS):c.11576G>A (p.Arg3859His) rs149427669 0.00004
NM_014363.6(SACS):c.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.7916T>C (p.Ile2639Thr) rs202144442 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.874G>T (p.Val292Phe) rs760555463 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.*882A>C rs886050069 0.00003
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser) rs375898103 0.00003
NM_014363.6(SACS):c.10205A>G (p.Asp3402Gly) rs543563990 0.00003
NM_014363.6(SACS):c.10255C>T (p.Arg3419Cys) rs765758197 0.00003
NM_014363.6(SACS):c.10268T>C (p.Ile3423Thr) rs767281295 0.00003
NM_014363.6(SACS):c.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.11886A>G (p.Ile3962Met) rs1252737332 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.3052G>A (p.Glu1018Lys) rs770999085 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.*218T>C rs907847986 0.00002
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.11901A>G (p.Gln3967=) rs572068106 0.00002
NM_014363.6(SACS):c.11942A>G (p.Gln3981Arg) rs747314113 0.00002
NM_014363.6(SACS):c.12130G>C (p.Gly4044Arg) rs753511073 0.00002
NM_014363.6(SACS):c.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.1A>G (p.Met1Val) rs771943685 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.2957T>A (p.Leu986Ter) rs766457071 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.494C>T (p.Thr165Ile) rs1419027987 0.00002
NM_014363.6(SACS):c.4955A>G (p.Gln1652Arg) rs148824690 0.00002
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile) rs201724656 0.00002
NM_014363.6(SACS):c.5323G>A (p.Ala1775Thr) rs1002701621 0.00002
NM_014363.6(SACS):c.5356G>A (p.Asp1786Asn) rs763496360 0.00002
NM_014363.6(SACS):c.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.7171G>A (p.Val2391Met) rs760087813 0.00002
NM_014363.6(SACS):c.7207G>C (p.Val2403Leu) rs779973547 0.00002
NM_014363.6(SACS):c.7275A>G (p.Arg2425=) rs761313165 0.00002
NM_014363.6(SACS):c.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.7454A>T (p.His2485Leu) rs1420170258 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.7988C>T (p.Pro2663Leu) rs377626385 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.*307A>G rs576860445 0.00001
NM_014363.6(SACS):c.*461G>A rs1003496096 0.00001
NM_014363.6(SACS):c.*711A>G rs368233436 0.00001
NM_014363.6(SACS):c.-470C>T rs748973703 0.00001
NM_014363.6(SACS):c.-489G>A rs886050091 0.00001
NM_014363.6(SACS):c.-70G>A rs575970347 0.00001
NM_014363.6(SACS):c.10034T>C (p.Val3345Ala) rs767926148 0.00001
NM_014363.6(SACS):c.1004C>T (p.Ser335Leu) rs767435985 0.00001
NM_014363.6(SACS):c.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.10276T>C (p.Phe3426Leu) rs1883631517 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.10415A>G (p.Asp3472Gly) rs759801095 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.10508_10510del (p.Arg3503_Leu3504delinsIle) rs1555250190 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.10699G>A (p.Glu3567Lys) rs886050078 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.10819A>G (p.Ile3607Val) rs372494676 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.10862T>C (p.Leu3621Ser) rs1397997962 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.1115C>T (p.Thr372Ile) rs1296261982 0.00001
NM_014363.6(SACS):c.1119T>C (p.Tyr373=) rs752597088 0.00001
NM_014363.6(SACS):c.11207T>C (p.Met3736Thr) rs759433888 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.11624G>A (p.Arg3875His) rs863224916 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.11899C>G (p.Gln3967Glu) rs1261408099 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.12635G>A (p.Arg4212Lys) rs1490155590 0.00001
NM_014363.6(SACS):c.12661C>G (p.Leu4221Val) rs767622491 0.00001
NM_014363.6(SACS):c.12688G>A (p.Gly4230Ser) rs746194271 0.00001
NM_014363.6(SACS):c.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.12816C>T (p.Gly4272=) rs142643824 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.13281T>A (p.Thr4427=) rs1360709632 0.00001
NM_014363.6(SACS):c.13282T>G (p.Tyr4428Asp) rs886050071 0.00001
NM_014363.6(SACS):c.13284C>T (p.Tyr4428=) rs753277514 0.00001
NM_014363.6(SACS):c.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.13590T>C (p.Gly4530=) rs1388411074 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.1859C>G (p.Thr620Arg) rs1159082212 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.2110C>A (p.Leu704Ile) rs767844042 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.3066del (p.Asn1025fs) rs1057516767 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.3242C>T (p.Pro1081Leu) rs377493083 0.00001
NM_014363.6(SACS):c.3261A>C (p.Leu1087Phe) rs1417936142 0.00001
NM_014363.6(SACS):c.326A>G (p.Glu109Gly) rs1317414910 0.00001
NM_014363.6(SACS):c.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.3408T>G (p.Asn1136Lys) rs756303420 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.482A>G (p.Asn161Ser) rs746069731 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.4846A>C (p.Asn1616His) rs979327782 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.4963A>G (p.Lys1655Glu) rs1035497308 0.00001
NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys) rs1269546947 0.00001
NM_014363.6(SACS):c.5060C>T (p.Thr1687Ile) rs776656956 0.00001
NM_014363.6(SACS):c.5064G>A (p.Gln1688=) rs760628805 0.00001
NM_014363.6(SACS):c.510C>T (p.His170=) rs575556786 0.00001
NM_014363.6(SACS):c.5122del (p.Ala1708fs) rs1485885260 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.562G>A (p.Gly188Arg) rs780184251 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.6096G>A (p.Ser2032=) rs756027210 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.6485A>G (p.Asp2162Gly) rs369388933 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.6776C>T (p.Pro2259Leu) rs150098233 0.00001
NM_014363.6(SACS):c.6778A>G (p.Ile2260Val) rs202110208 0.00001
NM_014363.6(SACS):c.6857A>G (p.Lys2286Arg) rs754381972 0.00001
NM_014363.6(SACS):c.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.6993A>T (p.Glu2331Asp) rs759201960 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.7187C>G (p.Thr2396Ser) rs1303289497 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.7262T>A (p.Phe2421Tyr) rs1213144547 0.00001
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter) rs145766983 0.00001
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val) rs1007936574 0.00001
NM_014363.6(SACS):c.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.7406A>G (p.Asn2469Ser) rs1288769278 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.7817A>G (p.Asn2606Ser) rs1191066514 0.00001
NM_014363.6(SACS):c.7819C>A (p.Leu2607Ile) rs753584300 0.00001
NM_014363.6(SACS):c.7833G>A (p.Thr2611=) rs1237743096 0.00001
NM_014363.6(SACS):c.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.8233G>A (p.Glu2745Lys) rs745462710 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.8836A>G (p.Asn2946Asp) rs184407783 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.8889C>A (p.Phe2963Leu) rs776647599 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_014363.5(SACS):c.[11624G>A];[7276C>T]
NM_014363.5:c.[1640C>T;1634G>T]
NM_014363.6(SACS):c.*1039C>T rs1593117762
NM_014363.6(SACS):c.*1142G>A rs1883304820
NM_014363.6(SACS):c.*1162C>G rs1883303203
NM_014363.6(SACS):c.*1292A>T rs147476665
NM_014363.6(SACS):c.*20del rs143617437
NM_014363.6(SACS):c.*716T>G rs1883326909
NM_014363.6(SACS):c.*919T>C rs1883315768
NM_014363.6(SACS):c.-501-78G>A rs116525558
NM_014363.6(SACS):c.-502+2T>G rs1874525003
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.10011C>G (p.Ile3337Met) rs780642116
NM_014363.6(SACS):c.10023C>T (p.Asp3341=) rs2137578682
NM_014363.6(SACS):c.10024_10025del (p.Ser3342fs) rs1555250395
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.10050del (p.His3351fs) rs1555250383
NM_014363.6(SACS):c.10054A>G (p.Thr3352Ala)
NM_014363.6(SACS):c.10055_10056del (p.Thr3352fs)
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.10087A>T (p.Lys3363Ter) rs1555250359
NM_014363.6(SACS):c.10089G>A (p.Lys3363=)
NM_014363.6(SACS):c.10090del (p.Ala3364fs) rs1057517383
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.10103_10104insTATAGATT (p.Met3368fs) rs2137577962
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.10124G>C (p.Arg3375Thr) rs776727312
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.10226C>G (p.Ser3409Ter) rs1566059895
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.1023G>C (p.Leu341=)
NM_014363.6(SACS):c.10266C>T (p.Ser3422=)
NM_014363.6(SACS):c.1028A>G (p.His343Arg)
NM_014363.6(SACS):c.10291G>A (p.Val3431Ile)
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu) rs144179865
NM_014363.6(SACS):c.10298C>G (p.Thr3433Arg) rs200991790
NM_014363.6(SACS):c.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.10372C>T (p.His3458Tyr) rs756117709
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.10424_10426del (p.Glu3475del) rs1555250217
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.10444_10447del (p.Leu3482fs)
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.10461_10462delinsAA (p.Asn3487_Leu3488delinsLysIle) rs886043821
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.10501_10505del (p.Leu3500_Lys3501insTer) rs1555250191
NM_014363.6(SACS):c.10506T>C (p.Asn3502=)
NM_014363.6(SACS):c.10510T>C (p.Leu3504=) rs771474242
NM_014363.6(SACS):c.10513T>C (p.Ser3505Pro) rs1883615724
NM_014363.6(SACS):c.10515A>C (p.Ser3505=) rs1883615412
NM_014363.6(SACS):c.10518T>C (p.Ser3506=) rs2137574163
NM_014363.6(SACS):c.10518T>G (p.Ser3506Arg)
NM_014363.6(SACS):c.10520C>G (p.Ala3507Gly)
NM_014363.6(SACS):c.10521T>C (p.Ala3507=)
NM_014363.6(SACS):c.10534G>C (p.Glu3512Gln) rs1883614344
NM_014363.6(SACS):c.10536_10537del (p.Glu3512fs)
NM_014363.6(SACS):c.10536del (p.Ile3513fs) rs1555250183
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.10634_10635del (p.Val3545fs) rs2137573354
NM_014363.6(SACS):c.10635G>C (p.Val3545=) rs2137573341
NM_014363.6(SACS):c.10644del (p.Phe3548fs) rs1555250160
NM_014363.6(SACS):c.10645G>T (p.Glu3549Ter)
NM_014363.6(SACS):c.10650T>A (p.Val3550=) rs2137573236
NM_014363.6(SACS):c.10651A>G (p.Met3551Val)
NM_014363.6(SACS):c.10651_10656del (p.Met3551_Leu3552del) rs1555250156
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.10686_10689del (p.Phe3562fs) rs779338945
NM_014363.6(SACS):c.10692del (p.Lys3565fs) rs2137572889
NM_014363.6(SACS):c.10705C>T (p.Leu3569Phe) rs1883603870
NM_014363.6(SACS):c.10708A>T (p.Ile3570Leu) rs878854977
NM_014363.6(SACS):c.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.10730C>A (p.Thr3577Lys)
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.10755_10757del (p.Phe3585del) rs771277098
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.10780A>T (p.Ile3594Leu) 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.10813A>T (p.Lys3605Ter) rs1360298758
NM_014363.6(SACS):c.10818A>T (p.Glu3606Asp)
NM_014363.6(SACS):c.10822_10823del (p.Ser3608fs) rs1555250082
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.10854del (p.Glu3619fs) rs1057516773
NM_014363.6(SACS):c.10855G>T (p.Glu3619Ter) rs748151842
NM_014363.6(SACS):c.1085A>G (p.Lys362Arg)
NM_014363.6(SACS):c.1085del (p.Lys362fs) rs1057517242
NM_014363.6(SACS):c.10864C>T (p.Gln3622Ter) rs1057516578
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>C (p.Gln3634Pro) rs150900362
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.10932dup (p.Leu3645fs) rs2137570842
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.10944_10947dup (p.Leu3650fs)
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.10967C>G (p.Pro3656Arg) rs886050076
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.10993_11002dup (p.Pro3668fs) rs1555250022
NM_014363.6(SACS):c.11003C>G (p.Pro3668Arg) rs1883577094
NM_014363.6(SACS):c.11008_11013del (p.Tyr3670_Gln3671del) rs2137570036
NM_014363.6(SACS):c.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.11027C>T (p.Thr3676Ile) rs1883575875
NM_014363.6(SACS):c.11037T>G (p.Leu3679=) rs1883575247
NM_014363.6(SACS):c.11039T>C (p.Ile3680Thr)
NM_014363.6(SACS):c.11039_11040insTA (p.Phe3682fs) rs1555250016
NM_014363.6(SACS):c.11040A>C (p.Ile3680=) rs750092480
NM_014363.6(SACS):c.11042dup (p.Phe3682fs) rs756597098
NM_014363.6(SACS):c.11045del (p.Phe3682fs)
NM_014363.6(SACS):c.11052A>G (p.Gly3684=)
NM_014363.6(SACS):c.1105_1106del (p.Thr369fs)
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.11081dup (p.Cys3694fs) rs1057516856
NM_014363.6(SACS):c.11092C>T (p.Gln3698Ter) rs1883571494
NM_014363.6(SACS):c.11100A>G (p.Leu3700=)
NM_014363.6(SACS):c.11100dup (p.Trp3701fs) rs1883571351
NM_014363.6(SACS):c.11101T>C (p.Trp3701Arg) rs773588375
NM_014363.6(SACS):c.11109C>T (p.Ser3703=) rs1883570677
NM_014363.6(SACS):c.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.11137C>A (p.Pro3713Thr)
NM_014363.6(SACS):c.11139C>G (p.Pro3713=)
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.11149_11150insT (p.Lys3717fs) rs1555249977
NM_014363.6(SACS):c.11152G>A (p.Glu3718Lys) rs750040557
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.11179C>T (p.Gln3727Ter) rs1555249966
NM_014363.6(SACS):c.11181A>G (p.Gln3727=)
NM_014363.6(SACS):c.11185C>T (p.Gln3729Ter) rs1057516398
NM_014363.6(SACS):c.11187G>A (p.Gln3729=) rs2137568781
NM_014363.6(SACS):c.11191del (p.Glu3731fs)
NM_014363.6(SACS):c.11194C>G (p.Gln3732Glu)
NM_014363.6(SACS):c.11194C>T (p.Gln3732Ter)
NM_014363.6(SACS):c.11215G>A (p.Val3739Ile) rs1027336196
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.11261del (p.Asn3754fs)
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs) rs1400601705
NM_014363.6(SACS):c.1126_1127del (p.Asn376fs)
NM_014363.6(SACS):c.11271C>T (p.Asn3757=)
NM_014363.6(SACS):c.11272A>G (p.Ile3758Val)
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet)
NM_014363.6(SACS):c.11277G>A (p.Thr3759=)
NM_014363.6(SACS):c.11277G>T (p.Thr3759=) rs777278208
NM_014363.6(SACS):c.11282del (p.Leu3761fs) rs2137567996
NM_014363.6(SACS):c.11286_11287del (p.Asp3762fs)
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.11302del (p.Thr3768fs)
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.11317T>G (p.Leu3773Val)
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.11348A>G (p.Glu3783Gly) rs1048404551
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.11361dup (p.Arg3788fs)
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.11406_11409del (p.Trp3803fs)
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.11428G>A (p.Glu3810Lys) rs2137566624
NM_014363.6(SACS):c.11428dup (p.Glu3810fs) rs1555249894
NM_014363.6(SACS):c.11430G>A (p.Glu3810=)
NM_014363.6(SACS):c.11432T>C (p.Val3811Ala) rs2137566609
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.11509C>T (p.Gln3837Ter) rs1555249881
NM_014363.6(SACS):c.11509del (p.Gln3837fs) rs2137566018
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.11539ATT[1] (p.Ile3848del) rs2137565671
NM_014363.6(SACS):c.1153A>G (p.Lys385Glu) rs1281714392
NM_014363.6(SACS):c.11540T>C (p.Ile3847Thr)
NM_014363.6(SACS):c.11559T>C (p.Tyr3853=) rs2137565554
NM_014363.6(SACS):c.1155G>A (p.Lys385=) rs1489092168
NM_014363.6(SACS):c.11561T>C (p.Val3854Ala)
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.11601_11604del (p.Lys3867fs)
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.11623C>T (p.Arg3875Cys)
NM_014363.6(SACS):c.11627_11628del (p.Thr3876fs) rs1555249826
NM_014363.6(SACS):c.11628A>C (p.Thr3876=) rs2137565004
NM_014363.6(SACS):c.1162C>T (p.Gln388Ter)
NM_014363.6(SACS):c.11634dup (p.Arg3879fs)
NM_014363.6(SACS):c.11637_11638del (p.Arg3879fs) rs1593121924
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.11679_11681delinsTAG (p.Lys3894Arg)
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.11713del (p.Ala3906fs) rs1555249797
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.11731del (p.Ser3911fs) rs1057517232
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>C (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.11772dup (p.Asp3925Ter) rs1555249789
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.1178T>A (p.Leu393Ter)
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.11826G>T (p.Met3942Ile)
NM_014363.6(SACS):c.11848del (p.Tyr3950fs) rs2137563478
NM_014363.6(SACS):c.11853A>G (p.Leu3951=) rs1883510768
NM_014363.6(SACS):c.11856G>A (p.Gly3952=) rs2137563341
NM_014363.6(SACS):c.11857_11859del (p.Lys3953del) rs1555249772
NM_014363.6(SACS):c.1185_1194del (p.Cys395fs) rs2137724246
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.11877dup (p.Lys3960Ter) rs1555249766
NM_014363.6(SACS):c.11889G>A (p.Met3963Ile)
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.11926A>C (p.Ser3976Arg)
NM_014363.6(SACS):c.11927G>A (p.Ser3976Asn) rs1883504909
NM_014363.6(SACS):c.11931A>T (p.Ile3977=)
NM_014363.6(SACS):c.11935G>T (p.Glu3979Ter) rs1555249745
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.11946del (p.Asp3983fs)
NM_014363.6(SACS):c.11958T>A (p.Thr3986=)
NM_014363.6(SACS):c.11963A>G (p.Lys3988Arg) rs1883502413
NM_014363.6(SACS):c.11965G>T (p.Val3989Phe)
NM_014363.6(SACS):c.11967T>A (p.Val3989=) rs764921350
NM_014363.6(SACS):c.1196G>C (p.Gly399Ala)
NM_014363.6(SACS):c.11976T>G (p.Phe3992Leu)
NM_014363.6(SACS):c.11981C>T (p.Ala3994Val)
NM_014363.6(SACS):c.11984_11986dup (p.Leu3995_Cys3996insLeu)
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.12011_12019del (p.Leu4004_Leu4006del) rs2137561854
NM_014363.6(SACS):c.12014T>C (p.Leu4005Pro) rs2137561906
NM_014363.6(SACS):c.12020C>T (p.Ser4007Phe) rs1314135259
NM_014363.6(SACS):c.12025G>A (p.Glu4009Lys) rs990358595
NM_014363.6(SACS):c.12028C>T (p.Gln4010Ter) rs148297332
NM_014363.6(SACS):c.12035T>C (p.Ile4012Thr) rs1883497856
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.12054del (p.Ile4018_Met4019insTer) rs1555249695
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.12077C>A (p.Ala4026Asp) rs1883494822
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.12138A>G (p.Lys4046=)
NM_014363.6(SACS):c.12147C>A (p.Cys4049Ter)
NM_014363.6(SACS):c.12150del (p.Phe4050fs) rs1555249662
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.12173G>A (p.Arg4058Lys)
NM_014363.6(SACS):c.12175G>A (p.Val4059Ile)
NM_014363.6(SACS):c.12182G>A (p.Gly4061Asp) rs1883488232
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.12220G>C (p.Ala4074Pro) rs137853016
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.12256C>A (p.Leu4086Ile)
NM_014363.6(SACS):c.12257T>G (p.Leu4086Arg)
NM_014363.6(SACS):c.12261C>T (p.Tyr4087=)
NM_014363.6(SACS):c.12268C>A (p.His4090Asn) rs2137559913
NM_014363.6(SACS):c.1226_1227del (p.Ser409fs)
NM_014363.6(SACS):c.12271T>C (p.Ser4091Pro)
NM_014363.6(SACS):c.1227T>C (p.Ser409=) rs2137723941
NM_014363.6(SACS):c.12286A>G (p.Ile4096Val)
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.12323C>G (p.Ser4108Ter) rs1555249633
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.12373G>T (p.Gly4125Ter)
NM_014363.6(SACS):c.12375A>T (p.Gly4125=) rs1436419066
NM_014363.6(SACS):c.12378C>A (p.Cys4126Ter)
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.12407_12411del (p.Leu4136fs) rs1555249607
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.12434_12435del (p.Ser4145fs) rs1555249599
NM_014363.6(SACS):c.12435T>C (p.Ser4145=)
NM_014363.6(SACS):c.12437C>T (p.Ser4146Leu)
NM_014363.6(SACS):c.12440A>T (p.Glu4147Val)
NM_014363.6(SACS):c.12441G>A (p.Glu4147=) rs1342375376
NM_014363.6(SACS):c.12442C>T (p.Pro4148Ser) rs968562650
NM_014363.6(SACS):c.12446C>G (p.Ser4149Ter)
NM_014363.6(SACS):c.12456A>G (p.Glu4152=)
NM_014363.6(SACS):c.12465G>C (p.Met4155Ile)
NM_014363.6(SACS):c.12466C>T (p.Pro4156Ser)
NM_014363.6(SACS):c.12471C>T (p.Gly4157=)
NM_014363.6(SACS):c.12471dup (p.Thr4158fs)
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.12499A>G (p.Thr4167Ala)
NM_014363.6(SACS):c.12507T>C (p.Leu4169=) rs1883464496
NM_014363.6(SACS):c.12523_12541del (p.Val4175fs)
NM_014363.6(SACS):c.12529dup (p.Tyr4177fs)
NM_014363.6(SACS):c.1252C>G (p.Pro418Ala)
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.12538G>T (p.Glu4180Ter) rs2137557832
NM_014363.6(SACS):c.12540A>G (p.Glu4180=)
NM_014363.6(SACS):c.12540del (p.Glu4180fs) rs1057516347
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.12673T>C (p.Tyr4225His)
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.12700T>C (p.Tyr4234His) rs886050073
NM_014363.6(SACS):c.12702T>C (p.Tyr4234=) rs907197100
NM_014363.6(SACS):c.12707_12708del (p.Ile4236fs)
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.1276_1277dup (p.Leu426fs) rs1057516406
NM_014363.6(SACS):c.12770_12917del (p.Ser4257fs)
NM_014363.6(SACS):c.12775C>G (p.Pro4259Ala)
NM_014363.6(SACS):c.12775C>T (p.Pro4259Ser)
NM_014363.6(SACS):c.12775_12777del (p.Pro4259del) rs1555249469
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.12779del (p.Ser4260fs) rs1555249460
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.12795_12798del (p.Thr4266fs)
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.12826A>G (p.Ile4276Val)
NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser) rs370655945
NM_014363.6(SACS):c.12830CTC[1] (p.Pro4278del) rs764766520
NM_014363.6(SACS):c.12835_12836del (p.Leu4279fs) rs1555249425
NM_014363.6(SACS):c.12835_12837del (p.Leu4279del) rs1555249424
NM_014363.6(SACS):c.12839_12843del (p.Phe4280fs)
NM_014363.6(SACS):c.12839del (p.Phe4280fs) rs1197238841
NM_014363.6(SACS):c.12842C>G (p.Ser4281Cys)
NM_014363.6(SACS):c.12849A>G (p.Arg4283=)
NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs) rs786204628
NM_014363.6(SACS):c.12860del (p.Lys4287fs)
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.12899T>A (p.Val4300Asp)
NM_014363.6(SACS):c.12902A>G (p.Asn4301Ser)
NM_014363.6(SACS):c.12905C>A (p.Ser4302Tyr) rs778808568
NM_014363.6(SACS):c.12905C>G (p.Ser4302Cys)
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.12910C>T (p.Pro4304Ser)
NM_014363.6(SACS):c.12913G>T (p.Glu4305Ter) rs376376974
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.12932C>A (p.Thr4311Lys)
NM_014363.6(SACS):c.12934_12935delinsAA (p.Ser4312Asn)
NM_014363.6(SACS):c.12951A>G (p.Ala4317=) rs1258695869
NM_014363.6(SACS):c.12952T>C (p.Trp4318Arg) rs762499265
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.12981_12984del (p.Ile4328fs) rs1883423972
NM_014363.6(SACS):c.12984T>A (p.Ile4328=)
NM_014363.6(SACS):c.12991C>T (p.Arg4331Trp) rs1555249369
NM_014363.6(SACS):c.12993G>T (p.Arg4331=)
NM_014363.6(SACS):c.13009C>G (p.His4337Asp) rs1555249362
NM_014363.6(SACS):c.13017C>A (p.Asp4339Glu)
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.13031A>G (p.Asn4344Ser) rs886050072
NM_014363.6(SACS):c.13038C>A (p.Asp4346Glu) rs2137552312
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.13112A>G (p.Asn4371Ser)
NM_014363.6(SACS):c.13112dup (p.Asn4371fs)
NM_014363.6(SACS):c.13116A>C (p.Ala4372=)
NM_014363.6(SACS):c.13120_13121del (p.Arg4374fs) rs1555249338
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.13178_13185dup (p.Arg4396fs) rs1555249326
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.13220G>A (p.Ser4407Asn)
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.13231G>A (p.Glu4411Lys) rs1883408216
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.13284C>A (p.Tyr4428Ter) rs753277514
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.13295T>C (p.Phe4432Ser)
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>A (p.Ser4440Ter)
NM_014363.6(SACS):c.13319C>T (p.Ser4440Leu)
NM_014363.6(SACS):c.1331C>G (p.Ala444Gly) rs951437363
NM_014363.6(SACS):c.13320G>A (p.Ser4440=) rs759847087
NM_014363.6(SACS):c.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.13349G>A (p.Trp4450Ter) rs1555249236
NM_014363.6(SACS):c.13350G>A (p.Trp4450Ter)
NM_014363.6(SACS):c.13352T>C (p.Leu4451Pro)
NM_014363.6(SACS):c.13353A>G (p.Leu4451=)
NM_014363.6(SACS):c.13360del (p.Ala4454fs) rs1555249223
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.13393del (p.Leu4465fs) rs1555249211
NM_014363.6(SACS):c.13397A>G (p.His4466Arg)
NM_014363.6(SACS):c.13405G>C (p.Ala4469Pro) rs745961541
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.13433dup (p.Tyr4478Ter)
NM_014363.6(SACS):c.13454T>C (p.Leu4485Ser) rs1566054340
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.13512A>G (p.Ala4504=) rs886050070
NM_014363.6(SACS):c.13520A>G (p.Gln4507Arg)
NM_014363.6(SACS):c.13526T>C (p.Ile4509Thr)
NM_014363.6(SACS):c.13527dup (p.Glu4510fs) rs797045936
NM_014363.6(SACS):c.13530G>A (p.Glu4510=)
NM_014363.6(SACS):c.13533A>G (p.Glu4511=) rs1593119019
NM_014363.6(SACS):c.13538G>C (p.Ser4513Thr)
NM_014363.6(SACS):c.13540C>T (p.Gln4514Ter) rs1555249133
NM_014363.6(SACS):c.13542G>A (p.Gln4514=)
NM_014363.6(SACS):c.13545A>G (p.Gln4515=) rs1356049808
NM_014363.6(SACS):c.1354C>T (p.Pro452Ser)
NM_014363.6(SACS):c.13557G>C (p.Leu4519=) rs2137548197
NM_014363.6(SACS):c.13561_13562del (p.Thr4520_Asn4521insTer)
NM_014363.6(SACS):c.13563T>C (p.Asn4521=) rs766497653
NM_014363.6(SACS):c.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.13588G>T (p.Gly4530Cys) rs2137547970
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.13601del (p.Ser4533_Leu4534insTer)
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>G (p.Tyr4538Ter) rs927804920
NM_014363.6(SACS):c.13614C>T (p.Tyr4538=) rs927804920
NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser) rs1555249106
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.13645A>G (p.Asn4549Asp) rs1178912631
NM_014363.6(SACS):c.13646A>G (p.Asn4549Ser)
NM_014363.6(SACS):c.13660T>A (p.Ser4554Thr)
NM_014363.6(SACS):c.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.1417A>G (p.Asn473Asp) rs2137722315
NM_014363.6(SACS):c.1420C>T (p.Arg474Cys) rs746704660
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.1435_1436insTTT (p.Lys478_Trp479insPhe) rs1555254306
NM_014363.6(SACS):c.1437G>A (p.Trp479Ter)
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.1455G>A (p.Trp485Ter)
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.1485T>G (p.Phe495Leu)
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.1569_1570delinsCTGTCTCTTATACACA (p.Phe524fs)
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.1593C>G (p.Ile531Met) rs113756713
NM_014363.6(SACS):c.1596T>A (p.Tyr532Ter) rs2137720760
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.1627G>A (p.Val543Met) rs752705095
NM_014363.6(SACS):c.1627del (p.Val543fs) rs1870251884
NM_014363.6(SACS):c.1636C>T (p.Gln546Ter)
NM_014363.6(SACS):c.1638A>G (p.Gln546=) rs755389972
NM_014363.6(SACS):c.1639C>G (p.Pro547Ala) rs2137720410
NM_014363.6(SACS):c.1642G>A (p.Val548Met)
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.1681del (p.Ala560_Val561insTer) rs1057516543
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.1716_1717del (p.Glu573fs)
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.172-2A>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.1799A>G (p.Gln600Arg) rs1348513054
NM_014363.6(SACS):c.1806C>T (p.Ala602=)
NM_014363.6(SACS):c.1807A>G (p.Lys603Glu) rs983822008
NM_014363.6(SACS):c.1807A>T (p.Lys603Ter)
NM_014363.6(SACS):c.1812A>G (p.Val604=) rs2137718559
NM_014363.6(SACS):c.1814C>T (p.Pro605Leu) rs2137718533
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.1837C>G (p.Gln613Glu)
NM_014363.6(SACS):c.1839_1840insGCGTCACCTTC (p.Leu614fs)
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.1859C>T (p.Thr620Ile)
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.1919_1920del (p.His640fs) rs797045937
NM_014363.6(SACS):c.1920C>T (p.His640=) rs1870214029
NM_014363.6(SACS):c.1923G>C (p.Leu641=)
NM_014363.6(SACS):c.1925del (p.Gly642fs) rs2137717323
NM_014363.6(SACS):c.1929T>A (p.Cys643Ter)
NM_014363.6(SACS):c.192_193delinsA (p.Gly65fs)
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.1965_1966del (p.Leu655_Ser656insTer)
NM_014363.6(SACS):c.1968_1969del (p.Asp657fs)
NM_014363.6(SACS):c.1969G>T (p.Asp657Tyr) rs2137716974
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.1990C>T (p.Leu664Phe)
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.2021G>T (p.Gly674Val) rs770199696
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.2037CTC[1] (p.Ser682del) rs764516069
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.2060del (p.Asp687fs) rs2137716138
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.2076del (p.Ser693fs) rs1057516224
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.2096C>T (p.Ser699Phe) rs374680967
NM_014363.6(SACS):c.2097C>T (p.Ser699=)
NM_014363.6(SACS):c.2104C>T (p.Pro702Ser)
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.2176C>T (p.Gln726Ter)
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+1G>T
NM_014363.6(SACS):c.2185+8A>G rs1870126120
NM_014363.6(SACS):c.2185+9G>A rs2137709802
NM_014363.6(SACS):c.2186-116_2186-110dup rs4068499
NM_014363.6(SACS):c.2186-116dup rs4068499
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.2186-2A>G rs1057516554
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.2186-91del rs4068499
NM_014363.6(SACS):c.2186-92_2186-91del rs4068499
NM_014363.6(SACS):c.2189_2190delinsT (p.Arg730fs)
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.2223A>T (p.Glu741Asp)
NM_014363.6(SACS):c.2224C>T (p.Arg742Ter) rs1057517285
NM_014363.6(SACS):c.2225G>A (p.Arg742Gln) rs2137645971
NM_014363.6(SACS):c.2225G>C (p.Arg742Pro) rs2137645971
NM_014363.6(SACS):c.2229del (p.Phe743fs)
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.2276A>G (p.Glu759Gly)
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.2287C>T (p.Gln763Ter) rs1555252953
NM_014363.6(SACS):c.2291G>A (p.Trp764Ter)
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.2329dup (p.Ser777fs) rs1555252944
NM_014363.6(SACS):c.2330C>A (p.Ser777Ter) rs1057517437
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.2374G>C (p.Glu792Gln)
NM_014363.6(SACS):c.237dup (p.Ser80fs) rs770311689
NM_014363.6(SACS):c.2382G>A (p.Leu794=)
NM_014363.6(SACS):c.2387del (p.Leu796fs)
NM_014363.6(SACS):c.2396_2399dup (p.Met800fs)
NM_014363.6(SACS):c.239C>G (p.Ser80Ter)
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.2428G>C (p.Glu810Gln)
NM_014363.6(SACS):c.2428del (p.Glu810fs)
NM_014363.6(SACS):c.2432G>A (p.Gly811Asp)
NM_014363.6(SACS):c.2434C>T (p.Gln812Ter) rs1555252929
NM_014363.6(SACS):c.2437A>G (p.Thr813Ala)
NM_014363.6(SACS):c.2438_2439del (p.Thr813fs) rs1555252928
NM_014363.6(SACS):c.2451_2452insT (p.Ile818fs) rs1555252926
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.2465T>G (p.Ile822Ser)
NM_014363.6(SACS):c.2469A>G (p.Pro823=)
NM_014363.6(SACS):c.2470del (p.Ser824fs)
NM_014363.6(SACS):c.2475A>G (p.Leu825=)
NM_014363.6(SACS):c.2475dup (p.Val826fs) rs1555252909
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.2503C>T (p.Gln835Ter)
NM_014363.6(SACS):c.2508del (p.Pro837fs)
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.2533C>T (p.Gln845Ter) rs1555252876
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.2562A>T (p.Lys854Asn)
NM_014363.6(SACS):c.2563T>C (p.Leu855=)
NM_014363.6(SACS):c.2564T>G (p.Leu855Ter) rs142037771
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.257del (p.Gly86fs)
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.2593A>T (p.Lys865Ter) rs1566072001
NM_014363.6(SACS):c.2594A>C (p.Lys865Thr)
NM_014363.6(SACS):c.2599T>C (p.Tyr867His) rs774682589
NM_014363.6(SACS):c.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.260G>A (p.Gly87Asp)
NM_014363.6(SACS):c.2613A>G (p.Pro871=) rs2137642425
NM_014363.6(SACS):c.2614_2619del (p.Leu872_Pro873del) rs771746381
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.2620del (p.Ser874fs)
NM_014363.6(SACS):c.2621G>A (p.Ser874Asn)
NM_014363.6(SACS):c.2627_2631del (p.Val876fs) rs1555252844
NM_014363.6(SACS):c.2629_2630dup (p.Leu877fs) rs1057516829
NM_014363.6(SACS):c.262C>T (p.Arg88Ter) rs1555255676
NM_014363.6(SACS):c.2630T>A (p.Leu877Ter)
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.2726G>T (p.Ser909Ile) rs2137641417
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.2829dup (p.Leu944fs) rs1869162207
NM_014363.6(SACS):c.2845G>C (p.Val949Leu) rs1869160064
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.2863A>T (p.Lys955Ter) rs1555252786
NM_014363.6(SACS):c.2870del (p.Pro957fs) rs1057516624
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.2886_2887del (p.Ser963fs) rs1326359185
NM_014363.6(SACS):c.2888C>G (p.Ser963Cys)
NM_014363.6(SACS):c.288T>C (p.Leu96=) rs1593155706
NM_014363.6(SACS):c.2890A>G (p.Ile964Val)
NM_014363.6(SACS):c.2894C>T (p.Ser965Leu)
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.2913_2914dup (p.Glu972fs) rs1057517034
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.2926_2927insAT (p.Arg976fs)
NM_014363.6(SACS):c.2936A>G (p.Asn979Ser)
NM_014363.6(SACS):c.2938A>C (p.Met980Leu)
NM_014363.6(SACS):c.2938_2939del (p.Met980fs) rs1593133306
NM_014363.6(SACS):c.2940G>T (p.Met980Ile)
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.2997T>A (p.Ile999=) rs1869142388
NM_014363.6(SACS):c.2T>C (p.Met1Thr) rs1417057515
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.3021_3023del (p.Glu1008del) rs1555252742
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.3059dup (p.Ser1021fs) rs1869136727
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.3070A>G (p.Lys1024Glu) rs1869134973
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.3159_3160del (p.Leu1053_Phe1054insTer) rs2137637877
NM_014363.6(SACS):c.3161T>C (p.Phe1054Ser) rs137853019
NM_014363.6(SACS):c.3165C>T (p.Asp1055=) rs1178311878
NM_014363.6(SACS):c.3168del (p.Asp1057fs) rs2137637783
NM_014363.6(SACS):c.3173T>C (p.Ile1058Thr) rs764812936
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.3195_3196del (p.Phe1065fs) rs1057516551
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.3218dup (p.Pro1075fs)
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.3253C>T (p.His1085Tyr) rs1869118837
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.328G>A (p.Gly110Arg)
NM_014363.6(SACS):c.328_330delinsAGT (p.Gly110Ser)
NM_014363.6(SACS):c.3292C>T (p.Leu1098Phe) rs1593132851
NM_014363.6(SACS):c.3294C>T (p.Leu1098=) rs1208321395
NM_014363.6(SACS):c.3298_3301del (p.Glu1100fs) rs1869112857
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.3346G>T (p.Gly1116Cys) rs774044532
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.3369TCT[1] (p.Leu1125del) rs1555252672
NM_014363.6(SACS):c.3370C>G (p.Leu1124Val) rs2137636093
NM_014363.6(SACS):c.3370C>T (p.Leu1124Phe)
NM_014363.6(SACS):c.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.3413A>G (p.Asn1138Ser) rs1202128043
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.3427C>T (p.Gln1143Ter) rs144267558
NM_014363.6(SACS):c.3429A>G (p.Gln1143=) rs1869096503
NM_014363.6(SACS):c.343A>T (p.Lys115Ter)
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+35T>C rs886038602
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.3450A>G (p.Thr1150=) rs2137635273
NM_014363.6(SACS):c.3451T>C (p.Leu1151=) rs2137635256
NM_014363.6(SACS):c.3457A>T (p.Lys1153Ter) rs1555252634
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.351_354del (p.Leu117fs)
NM_014363.6(SACS):c.3522A>G (p.Lys1174=)
NM_014363.6(SACS):c.3523_3527del (p.Gly1175fs) rs1555252623
NM_014363.6(SACS):c.3531C>T (p.Leu1177=) rs2137634680
NM_014363.6(SACS):c.3533G>C (p.Cys1178Ser)
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.3556dup (p.Met1186fs) rs1555252611
NM_014363.6(SACS):c.3557T>C (p.Met1186Thr) rs886050087
NM_014363.6(SACS):c.3557del (p.Met1186fs)
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.3585del (p.Ile1195fs) rs2137634136
NM_014363.6(SACS):c.3589T>C (p.Ser1197Pro) rs727503785
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.3615C>T (p.Ile1205=) rs886050086
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.3633del (p.Ala1212fs) rs1555252587
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.3642G>T (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.3655C>T (p.Pro1219Ser) rs2137633545
NM_014363.6(SACS):c.3666T>C (p.Ser1222=) rs370248518
NM_014363.6(SACS):c.3669T>C (p.Ala1223=)
NM_014363.6(SACS):c.3674T>G (p.Leu1225Ter) rs959856535
NM_014363.6(SACS):c.367G>T (p.Asp123Tyr)
NM_014363.6(SACS):c.3684T>C (p.Phe1228=)
NM_014363.6(SACS):c.3684dup (p.Lys1229Ter)
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.3700T>A (p.Trp1234Arg) rs1192682879
NM_014363.6(SACS):c.3702G>A (p.Trp1234Ter)
NM_014363.6(SACS):c.3703T>C (p.Tyr1235His)
NM_014363.6(SACS):c.3706_3707insACT (p.Tyr1235dup) rs1555252563
NM_014363.6(SACS):c.370G>T (p.Ala124Ser)
NM_014363.6(SACS):c.3729A>C (p.Glu1243Asp)
NM_014363.6(SACS):c.372T>G (p.Ala124=) rs2137782128
NM_014363.6(SACS):c.3730G>C (p.Asp1244His)
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.3782A>G (p.Asp1261Gly)
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.3806_3809del (p.Ser1269fs)
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.3831_3832dup (p.Val1278fs) rs1555252545
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.3853T>G (p.Cys1285Gly) rs2137632086
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.3881C>T (p.Pro1294Leu) rs1593132075
NM_014363.6(SACS):c.3883A>G (p.Ile1295Val)
NM_014363.6(SACS):c.3886C>G (p.His1296Asp)
NM_014363.6(SACS):c.388A>T (p.Lys130Ter)
NM_014363.6(SACS):c.3901C>T (p.Gln1301Ter) rs1555252531
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.3946C>T (p.Gln1316Ter)
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.3978_3982del (p.Glu1326fs) rs1555252518
NM_014363.6(SACS):c.397T>C (p.Tyr133His)
NM_014363.6(SACS):c.3991C>A (p.His1331Asn)
NM_014363.6(SACS):c.3992A>G (p.His1331Arg) rs1869039514
NM_014363.6(SACS):c.3994A>G (p.Ile1332Val)
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.4033dup (p.Gln1345fs) rs606231163
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.4039del (p.Leu1347fs) rs1057516222
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.4103G>T (p.Ser1368Ile) rs1566069517
NM_014363.6(SACS):c.4106A>G (p.Asn1369Ser)
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.4114C>G (p.Pro1372Ala) rs771277349
NM_014363.6(SACS):c.4117G>T (p.Ala1373Ser) rs61326562
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.4118C>A (p.Ala1373Glu) rs61548169
NM_014363.6(SACS):c.411A>G (p.Gln137=)
NM_014363.6(SACS):c.4139C>G (p.Pro1380Arg)
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.414C>G (p.Tyr138Ter) rs199474695
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.4162_4164del (p.Ser1388del) rs755941308
NM_014363.6(SACS):c.4168del (p.Ile1391fs) rs1555252465
NM_014363.6(SACS):c.416G>A (p.Gly139Glu)
NM_014363.6(SACS):c.4172T>C (p.Ile1391Thr)
NM_014363.6(SACS):c.4173C>A (p.Ile1391=)
NM_014363.6(SACS):c.4173_4175del (p.Ile1391del) rs1555252463
NM_014363.6(SACS):c.4186C>A (p.His1396Asn)
NM_014363.6(SACS):c.4189G>A (p.Glu1397Lys)
NM_014363.6(SACS):c.4199_4200insAACATTAATGTTTAATG (p.Tyr1400Ter) rs1555252458
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.4233_4236del (p.Leu1412fs)
NM_014363.6(SACS):c.4233dup (p.Leu1412fs) rs1555252448
NM_014363.6(SACS):c.4234C>T (p.Leu1412Phe) rs961377840
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.4265_4274dup (p.Asp1425_Ile1426insAlaTer) rs1555252433
NM_014363.6(SACS):c.4268A>G (p.His1423Arg) rs2137629036
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.4298G>A (p.Trp1433Ter) rs1057516930
NM_014363.6(SACS):c.4299G>A (p.Trp1433Ter) rs768209419
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.4349G>T (p.Gly1450Val)
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.4385dup (p.Arg1463fs) rs1555252388
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.4424C>A (p.Ser1475Ter)
NM_014363.6(SACS):c.442A>G (p.Met148Val)
NM_014363.6(SACS):c.4430T>C (p.Ile1477Thr) rs2137627792
NM_014363.6(SACS):c.4434T>C (p.Phe1478=) rs545103369
NM_014363.6(SACS):c.4437A>G (p.Lys1479=)
NM_014363.6(SACS):c.4438G>T (p.Glu1480Ter)
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.4465_4471del (p.Asn1489fs) rs1057516294
NM_014363.6(SACS):c.4469C>G (p.Ala1490Gly) rs886043557
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.4491_4494del (p.Ile1497_Asp1498insTer)
NM_014363.6(SACS):c.4494_4498del (p.Asp1498fs)
NM_014363.6(SACS):c.4495A>T (p.Met1499Leu)
NM_014363.6(SACS):c.4495dup (p.Met1499fs) rs1555252359
NM_014363.6(SACS):c.4496T>C (p.Met1499Thr)
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.4521_4522del (p.Asn1508fs)
NM_014363.6(SACS):c.4522A>C (p.Asn1508His) rs144653411
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.4546G>A (p.Ala1516Thr)
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.458-107_458-104del rs568043080
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.4585C>T (p.Gln1529Ter) rs1555252345
NM_014363.6(SACS):c.4587A>G (p.Gln1529=) rs1868971659
NM_014363.6(SACS):c.4592C>T (p.Ser1531Leu)
NM_014363.6(SACS):c.4593dup (p.Asp1532fs) rs780197970
NM_014363.6(SACS):c.4598C>G (p.Ser1533Ter) rs886041813
NM_014363.6(SACS):c.459G>T (p.Gly153=)
NM_014363.6(SACS):c.4604T>G (p.Phe1535Cys) rs1566068804
NM_014363.6(SACS):c.4605T>G (p.Phe1535Leu)
NM_014363.6(SACS):c.4606G>A (p.Val1536Met)
NM_014363.6(SACS):c.4606G>T (p.Val1536Leu) rs764832688
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.4684del (p.Ser1562fs) rs1275667662
NM_014363.6(SACS):c.4686T>G (p.Ser1562=)
NM_014363.6(SACS):c.468_469insG (p.Tyr157fs) rs1057516820
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.470A>G (p.Tyr157Cys)
NM_014363.6(SACS):c.470_471del (p.Tyr157fs) rs1444216187
NM_014363.6(SACS):c.4711A>T (p.Ile1571Phe)
NM_014363.6(SACS):c.4716del (p.Ile1572_Met1573insTer)
NM_014363.6(SACS):c.4718T>G (p.Met1573Arg) rs2137625077
NM_014363.6(SACS):c.4723C>T (p.Arg1575Trp)
NM_014363.6(SACS):c.4724G>C (p.Arg1575Pro) rs764992284
NM_014363.6(SACS):c.4730dup (p.Met1578fs)
NM_014363.6(SACS):c.4744G>C (p.Asp1582His)
NM_014363.6(SACS):c.4747C>A (p.Pro1583Thr) rs1566068552
NM_014363.6(SACS):c.4753A>G (p.Ile1585Val) rs2137624716
NM_014363.6(SACS):c.4755A>C (p.Ile1585=)
NM_014363.6(SACS):c.4756_4760del (p.Asn1586fs) rs765361868
NM_014363.6(SACS):c.475T>G (p.Tyr159Asp) rs1305721973
NM_014363.6(SACS):c.4760A>G (p.His1587Arg)
NM_014363.6(SACS):c.4760del (p.His1587fs) rs1057516285
NM_014363.6(SACS):c.4762_4763del (p.Ile1588fs)
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.4783_4787del (p.Lys1595fs)
NM_014363.6(SACS):c.4784A>G (p.Lys1595Arg)
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.4811G>A (p.Trp1604Ter)
NM_014363.6(SACS):c.4821A>G (p.Gln1607=) rs2137624161
NM_014363.6(SACS):c.4826A>C (p.Lys1609Thr)
NM_014363.6(SACS):c.4828A>C (p.Arg1610=) rs2137624139
NM_014363.6(SACS):c.4834A>G (p.Arg1612Gly)
NM_014363.6(SACS):c.4835G>C (p.Arg1612Thr)
NM_014363.6(SACS):c.4835dup (p.Phe1614fs) rs2137624079
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.4877_4880del (p.Gly1626fs) rs757872635
NM_014363.6(SACS):c.4881T>C (p.Cys1627=)
NM_014363.6(SACS):c.4884del (p.Gln1628fs)
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.4894_4897del (p.Leu1631_Thr1632insTer) rs1057516580
NM_014363.6(SACS):c.4904C>T (p.Ala1635Val)
NM_014363.6(SACS):c.4910dup (p.Tyr1637Ter)
NM_014363.6(SACS):c.4911C>A (p.Tyr1637Ter) rs1868929983
NM_014363.6(SACS):c.4916A>G (p.Tyr1639Cys) rs1566068293
NM_014363.6(SACS):c.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.4934G>C (p.Arg1645Pro)
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.4954C>T (p.Gln1652Ter)
NM_014363.6(SACS):c.4957G>T (p.Glu1653Ter)
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.4976T>G (p.Val1659Gly) rs886050085
NM_014363.6(SACS):c.4977T>C (p.Val1659=)
NM_014363.6(SACS):c.497del (p.Pro166fs)
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.5006T>C (p.Ile1669Thr)
NM_014363.6(SACS):c.5008_5010delinsGTAGATGAATATCTACAATTGTGGATTGTATTTAG (p.Tyr1670fs)
NM_014363.6(SACS):c.5008_5011del (p.Tyr1670fs) rs2137622518
NM_014363.6(SACS):c.5010T>G (p.Tyr1670Ter) rs1459899547
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.5037T>A (p.Cys1679Ter)
NM_014363.6(SACS):c.5037_5038del (p.Cys1679fs) rs1868917066
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.5073_5074dup (p.Ser1692fs) rs1057517305
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.508C>T (p.His170Tyr)
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.5102A>T (p.Glu1701Val) rs1868909053
NM_014363.6(SACS):c.5103G>A (p.Glu1701=) rs2137621687
NM_014363.6(SACS):c.5104G>A (p.Glu1702Lys)
NM_014363.6(SACS):c.5111_5113dup (p.Asn1704_Pro1705insHis) rs1555252172
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.5149_5151del (p.Lys1717del) rs754439135
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.5162C>T (p.Ser1721Phe)
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.5195del (p.Val1731_Leu1732insTer)
NM_014363.6(SACS):c.519A>G (p.Gln173=)
NM_014363.6(SACS):c.5203G>A (p.Ala1735Thr)
NM_014363.6(SACS):c.520G>T (p.Glu174Ter) rs2137742889
NM_014363.6(SACS):c.5226C>T (p.Cys1742=) rs770106641
NM_014363.6(SACS):c.5229C>T (p.Ser1743=)
NM_014363.6(SACS):c.5238dup (p.Lys1747Ter) rs1555252148
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.5263_5264del (p.Lys1755fs) rs199474696
NM_014363.6(SACS):c.5277T>C (p.Ile1759=) rs2137620095
NM_014363.6(SACS):c.5281C>T (p.Gln1761Ter) rs1555252142
NM_014363.6(SACS):c.5296G>T (p.Glu1766Ter)
NM_014363.6(SACS):c.529A>T (p.Arg177Ter)
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.5305C>T (p.His1769Tyr)
NM_014363.6(SACS):c.5306A>G (p.His1769Arg)
NM_014363.6(SACS):c.5308G>A (p.Val1770Met)
NM_014363.6(SACS):c.5309T>G (p.Val1770Gly)
NM_014363.6(SACS):c.5320A>T (p.Ile1774Phe)
NM_014363.6(SACS):c.5328T>A (p.Asp1776Glu)
NM_014363.6(SACS):c.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.5341C>T (p.Leu1781Phe)
NM_014363.6(SACS):c.5355A>T (p.Pro1785=)
NM_014363.6(SACS):c.5357A>G (p.Asp1786Gly)
NM_014363.6(SACS):c.5358TGA[1] (p.Asp1788del) rs775922113
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.5385G>A (p.Met1795Ile) rs2137619273
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.5402C>G (p.Ser1801Ter)
NM_014363.6(SACS):c.5405_5408del (p.Lys1802fs)
NM_014363.6(SACS):c.540A>G (p.Lys180=) rs999767217
NM_014363.6(SACS):c.5414C>G (p.Ser1805Ter) rs1555252113
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.542del (p.Lys181fs)
NM_014363.6(SACS):c.5431A>T (p.Lys1811Ter) rs1085307587
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>C (p.Cys1823Ser)
NM_014363.6(SACS):c.5468G>T (p.Cys1823Phe) rs967386746
NM_014363.6(SACS):c.5469C>A (p.Cys1823Ter) rs1057517172
NM_014363.6(SACS):c.5470A>G (p.Met1824Val)
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.5492del (p.Lys1831fs) rs1868862742
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.5515A>T (p.Arg1839Ter)
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.554_555del (p.Leu185fs)
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.5591A>G (p.Lys1864Arg) rs1868850876
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.5615G>C (p.Cys1872Ser)
NM_014363.6(SACS):c.5618_5619del (p.Tyr1873fs) rs1188844823
NM_014363.6(SACS):c.5621T>C (p.Leu1874Ser) rs1868847058
NM_014363.6(SACS):c.5622A>C (p.Leu1874Phe)
NM_014363.6(SACS):c.5636A>G (p.Lys1879Arg)
NM_014363.6(SACS):c.5639C>T (p.Thr1880Ile) rs1555252070
NM_014363.6(SACS):c.563_564del (p.Gly188fs)
NM_014363.6(SACS):c.5642G>C (p.Gly1881Ala)
NM_014363.6(SACS):c.5643C>G (p.Gly1881=)
NM_014363.6(SACS):c.5645T>G (p.Leu1882Trp)
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.5668T>C (p.Phe1890Leu)
NM_014363.6(SACS):c.5670T>C (p.Phe1890=) rs2137616884
NM_014363.6(SACS):c.5671G>C (p.Ala1891Pro) rs1868843160
NM_014363.6(SACS):c.5674G>A (p.Val1892Ile) rs2137616839
NM_014363.6(SACS):c.5678C>T (p.Thr1893Ile)
NM_014363.6(SACS):c.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.5692G>T (p.Glu1898Ter) rs2137616679
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.5719del (p.Arg1907fs) rs1555252055
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.5761T>G (p.Tyr1921Asp) rs2137616027
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.5770G>T (p.Val1924Leu) rs1329947939
NM_014363.6(SACS):c.5775G>A (p.Leu1925=)
NM_014363.6(SACS):c.5784dup (p.Arg1929fs) rs1057517099
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.5786G>A (p.Arg1929Gln)
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>A (p.Gly193=)
NM_014363.6(SACS):c.579G>T (p.Gly193=)
NM_014363.6(SACS):c.579del (p.Phe194fs)
NM_014363.6(SACS):c.5802T>C (p.Ser1934=)
NM_014363.6(SACS):c.5809dup (p.Leu1937fs)
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.5849A>C (p.Asp1950Ala) rs375962720
NM_014363.6(SACS):c.5850T>C (p.Asp1950=)
NM_014363.6(SACS):c.5855T>A (p.Val1952Asp) rs2137615220
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.5884G>C (p.Gly1962Arg)
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.5917A>G (p.Lys1973Glu)
NM_014363.6(SACS):c.5919A>G (p.Lys1973=)
NM_014363.6(SACS):c.5919del (p.Glu1974fs) rs1555251990
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.5937_5939del (p.Ser1980del) rs1555251980
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.5972dup (p.Arg1992fs) rs2137613912
NM_014363.6(SACS):c.5974A>C (p.Arg1992=)
NM_014363.6(SACS):c.597T>C (p.His199=)
NM_014363.6(SACS):c.5984A>T (p.Asp1995Val)
NM_014363.6(SACS):c.5989T>A (p.Ser1997Thr)
NM_014363.6(SACS):c.5990_5991del (p.Ser1997fs) rs1555251963
NM_014363.6(SACS):c.5991T>C (p.Ser1997=)
NM_014363.6(SACS):c.5998A>G (p.Lys2000Glu)
NM_014363.6(SACS):c.5999_6001del (p.Lys2000del) rs1555251960
NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs) rs773754134
NM_014363.6(SACS):c.6001dup (p.Arg2001fs) rs1555251960
NM_014363.6(SACS):c.6002_6003dup (p.Arg2002fs)
NM_014363.6(SACS):c.6007G>A (p.Asp2003Asn)
NM_014363.6(SACS):c.6008A>C (p.Asp2003Ala)
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val) rs537408260
NM_014363.6(SACS):c.600A>G (p.Ile200Met) rs2137742429
NM_014363.6(SACS):c.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+1_604+4del
NM_014363.6(SACS):c.604+20G>A
NM_014363.6(SACS):c.604+9T>G
NM_014363.6(SACS):c.6044A>C (p.Tyr2015Ser) rs1131691664
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.605-1G>A rs1555254489
NM_014363.6(SACS):c.605-7T>C rs1486783723
NM_014363.6(SACS):c.605-7T>G
NM_014363.6(SACS):c.605-8C>T rs2137729530
NM_014363.6(SACS):c.6052A>T (p.Lys2018Ter) rs1555251944
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.6062C>A (p.Ser2021Tyr) rs2137613081
NM_014363.6(SACS):c.6063C>T (p.Ser2021=)
NM_014363.6(SACS):c.6068del (p.Asn2023fs) rs1555251935
NM_014363.6(SACS):c.6070C>G (p.Leu2024Val) rs758895050
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.6119C>G (p.Ala2040Gly) rs1234193312
NM_014363.6(SACS):c.611del (p.Pro204fs)
NM_014363.6(SACS):c.6125G>A (p.Cys2042Tyr) rs2137612456
NM_014363.6(SACS):c.6126C>A (p.Cys2042Ter) rs761655321
NM_014363.6(SACS):c.6130C>T (p.Gln2044Ter) rs1408290451
NM_014363.6(SACS):c.6136C>T (p.Leu2046=) rs2137612302
NM_014363.6(SACS):c.6138A>G (p.Leu2046=)
NM_014363.6(SACS):c.6139C>A (p.Leu2047Ile)
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.6149C>G (p.Thr2050Arg)
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.6155C>G (p.Ser2052Ter)
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.6163del (p.Gln2055fs) rs1555251905
NM_014363.6(SACS):c.6164A>G (p.Gln2055Arg)
NM_014363.6(SACS):c.6165G>A (p.Gln2055=) rs748525192
NM_014363.6(SACS):c.6172del (p.Ser2058fs) rs1214399996
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.6186dup (p.Pro2063fs) rs2137611917
NM_014363.6(SACS):c.6189A>G (p.Pro2063=)
NM_014363.6(SACS):c.6202A>G (p.Ile2068Val)
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.622_640del (p.Ser208fs)
NM_014363.6(SACS):c.6231_6233del (p.Met2077del) rs1555251880
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.6282del (p.Thr2095fs) rs1555251853
NM_014363.6(SACS):c.6288A>G (p.Pro2096=)
NM_014363.6(SACS):c.6290del (p.Cys2097fs) rs1868755540
NM_014363.6(SACS):c.6300T>A (p.Cys2100Ter) rs2137610914
NM_014363.6(SACS):c.6300_6301delinsC (p.Ser2101fs) rs1555251840
NM_014363.6(SACS):c.6303del (p.Leu2102fs) rs2137610861
NM_014363.6(SACS):c.6320del (p.Leu2107fs) rs1057516295
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.6353_6356del (p.Gly2118fs) rs1555251818
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.6406A>T (p.Thr2136Ser) rs1566066009
NM_014363.6(SACS):c.6409C>T (p.Gln2137Ter) rs201690040
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.6435G>C (p.Leu2145Phe) rs1593128652
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.6451T>G (p.Leu2151Val) rs886050084
NM_014363.6(SACS):c.6453A>G (p.Leu2151=) rs2137609654
NM_014363.6(SACS):c.6455G>A (p.Gly2152Asp)
NM_014363.6(SACS):c.6456T>C (p.Gly2152=) rs747925179
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.6466GAT[1] (p.Asp2157del) rs1204242892
NM_014363.6(SACS):c.6469G>A (p.Asp2157Asn)
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.6502G>T (p.Val2168Leu)
NM_014363.6(SACS):c.6510A>G (p.Val2170=)
NM_014363.6(SACS):c.6510A>T (p.Val2170=)
NM_014363.6(SACS):c.6512C>G (p.Ala2171Gly) rs765626875
NM_014363.6(SACS):c.6513T>G (p.Ala2171=)
NM_014363.6(SACS):c.6515A>C (p.Glu2172Ala) rs1566065814
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.654del (p.Gln219fs)
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.6565T>G (p.Leu2189Val) rs771923767
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.6592_6593insAAAAAAAAA (p.Lys2197_Ile2198insLysLysLys) rs1555251719
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.6632A>G (p.Gln2211Arg) rs1044714793
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.6643T>C (p.Phe2215Leu) rs886050083
NM_014363.6(SACS):c.6650C>A (p.Pro2217Gln) rs1868700605
NM_014363.6(SACS):c.6663A>G (p.Lys2221=)
NM_014363.6(SACS):c.6663del (p.Lys2221fs) rs1555251699
NM_014363.6(SACS):c.6665CAG[1] (p.Ala2223del) rs1555251695
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.6730G>A (p.Asp2244Asn) rs1868692401
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.6740C>G (p.Thr2247Arg) rs1190128123
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.6754G>T (p.Asp2252Tyr) rs886050082
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.6763del (p.Cys2255fs) rs2137606872
NM_014363.6(SACS):c.6767_6794del (p.Leu2256fs) rs2137606577
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.6800_6802del (p.Ser2267del) rs1555251650
NM_014363.6(SACS):c.6801T>C (p.Ser2267=)
NM_014363.6(SACS):c.6804del (p.Phe2268fs) rs1057517301
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.6844T>C (p.Leu2282=) rs1868678889
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.6856AAG[1] (p.Lys2287del) rs1555251633
NM_014363.6(SACS):c.6858G>A (p.Lys2286=) rs1868677264
NM_014363.6(SACS):c.6859A>C (p.Lys2287Gln) rs1397588851
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.6877G>C (p.Val2293Leu)
NM_014363.6(SACS):c.6878T>C (p.Val2293Ala)
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.6919G>T (p.Gly2307Ter) rs1555251615
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.6932A>G (p.Tyr2311Cys) rs1566065185
NM_014363.6(SACS):c.6933C>T (p.Tyr2311=)
NM_014363.6(SACS):c.6941A>C (p.Asn2314Thr) rs1868664491
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.699del (p.Asp235fs) rs1415870785
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.7079_7081del (p.Ser2360del) rs1555251573
NM_014363.6(SACS):c.7080_7084del (p.His2362fs) rs1294102415
NM_014363.6(SACS):c.708del (p.Asp236fs)
NM_014363.6(SACS):c.7106C>T (p.Pro2369Leu)
NM_014363.6(SACS):c.7107A>C (p.Pro2369=)
NM_014363.6(SACS):c.7110C>A (p.Tyr2370Ter) rs1555251553
NM_014363.6(SACS):c.7110C>G (p.Tyr2370Ter) rs1555251553
NM_014363.6(SACS):c.7110C>T (p.Tyr2370=) rs1555251553
NM_014363.6(SACS):c.7113T>G (p.Leu2371=)
NM_014363.6(SACS):c.7114dup (p.Tyr2372fs) rs1057517222
NM_014363.6(SACS):c.7116del (p.Gln2373fs)
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.712A>T (p.Lys238Ter) rs764585158
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.7134T>G (p.Tyr2378Ter) 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.7169G>A (p.Gly2390Asp) rs1868637796
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.7207G>A (p.Val2403Ile)
NM_014363.6(SACS):c.7209T>G (p.Val2403=)
NM_014363.6(SACS):c.720T>C (p.Ile240=)
NM_014363.6(SACS):c.7210T>G (p.Leu2404Val) rs1593127760
NM_014363.6(SACS):c.7216T>C (p.Ser2406Pro) rs2137602722
NM_014363.6(SACS):c.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.7221_7224dup (p.Gln2409Ter) rs1555251514
NM_014363.6(SACS):c.7222G>A (p.Asp2408Asn)
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.7255_7259del (p.Glu2419fs)
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.7274G>C (p.Arg2425Pro) rs771583552
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.734A>T (p.Asp245Val)
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.7367C>T (p.Thr2456Ile)
NM_014363.6(SACS):c.7368T>G (p.Thr2456=) rs2137601024
NM_014363.6(SACS):c.736C>G (p.Gln246Glu) rs886050089
NM_014363.6(SACS):c.7374del (p.Met2459fs) rs1868615639
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.7394C>A (p.Ser2465Ter) rs747676277
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.7418_7419delinsTTT (p.Trp2473fs) rs1555251428
NM_014363.6(SACS):c.7426G>A (p.Val2476Ile)
NM_014363.6(SACS):c.742_743del (p.Ala248fs)
NM_014363.6(SACS):c.7436_7443dup (p.Lys2482delinsProLeuTer) rs1555251421
NM_014363.6(SACS):c.7448A>G (p.Tyr2483Cys) rs2137600321
NM_014363.6(SACS):c.7448_7456del (p.Tyr2483_Ala2486delinsSer) rs1555251416
NM_014363.6(SACS):c.744A>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.7465C>T (p.Pro2489Ser)
NM_014363.6(SACS):c.7466C>G (p.Pro2489Arg)
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.7494_7504del (p.Val2499fs) rs1057517451
NM_014363.6(SACS):c.7499dup (p.Arg2502fs)
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.7527T>G (p.Tyr2509Ter) rs140034972
NM_014363.6(SACS):c.7535A>G (p.Asn2512Ser) rs777424692
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.7546A>G (p.Thr2516Ala) rs2137599256
NM_014363.6(SACS):c.7548A>G (p.Thr2516=) rs2137599204
NM_014363.6(SACS):c.7576_7579del (p.Glu2526fs) rs2137599071
NM_014363.6(SACS):c.7582T>C (p.Leu2528=)
NM_014363.6(SACS):c.7583T>G (p.Leu2528Trp) rs2137599038
NM_014363.6(SACS):c.7585A>G (p.Thr2529Ala)
NM_014363.6(SACS):c.7586C>A (p.Thr2529Asn) rs1320224325
NM_014363.6(SACS):c.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.7634del (p.Met2545fs)
NM_014363.6(SACS):c.7636T>C (p.Leu2546=)
NM_014363.6(SACS):c.7638G>A (p.Leu2546=)
NM_014363.6(SACS):c.7641dup (p.Glu2548fs) rs876657720
NM_014363.6(SACS):c.7644G>C (p.Glu2548Asp) rs1868579030
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.7665T>G (p.Asp2555Glu)
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.7697A>G (p.Asp2566Gly) rs1868573738
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.7724T>C (p.Ile2575Thr)
NM_014363.6(SACS):c.7724T>G (p.Ile2575Arg) rs2137597923
NM_014363.6(SACS):c.7725A>G (p.Ile2575Met)
NM_014363.6(SACS):c.7761A>G (p.Ala2587=) rs2137597595
NM_014363.6(SACS):c.7763T>A (p.Leu2588His) rs1555251328
NM_014363.6(SACS):c.7763T>C (p.Leu2588Pro) rs1555251328
NM_014363.6(SACS):c.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.7795G>C (p.Asp2599His) rs1868563918
NM_014363.6(SACS):c.7796ATG[1] (p.Asp2600del) rs1555251315
NM_014363.6(SACS):c.780A>G (p.Thr260=)
NM_014363.6(SACS):c.7812T>C (p.Ile2604=) rs1593127031
NM_014363.6(SACS):c.7816A>C (p.Asn2606His)
NM_014363.6(SACS):c.7830C>G (p.Gly2610=)
NM_014363.6(SACS):c.7831A>G (p.Thr2611Ala)
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.7857T>C (p.Thr2619=) rs886050081
NM_014363.6(SACS):c.7861C>T (p.Gln2621Ter) rs1057517014
NM_014363.6(SACS):c.7868del (p.Gly2623fs) rs1555251301
NM_014363.6(SACS):c.7893T>C (p.His2631=)
NM_014363.6(SACS):c.7898C>T (p.Thr2633Ile) rs1555251295
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.7915_7920del (p.Ile2639_Ser2640del) rs1555251289
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.7940T>A (p.Ile2647Asn) rs934642310
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.7990G>A (p.Gly2664Arg) rs2137595708
NM_014363.6(SACS):c.7991G>T (p.Gly2664Val) rs1060499656
NM_014363.6(SACS):c.7992A>G (p.Gly2664=) rs755531339
NM_014363.6(SACS):c.7993C>T (p.Arg2665Cys)
NM_014363.6(SACS):c.7996A>C (p.Met2666Leu)
NM_014363.6(SACS):c.8004A>G (p.Arg2668=) rs2137595571
NM_014363.6(SACS):c.8006A>G (p.Asp2669Gly)
NM_014363.6(SACS):c.8009del (p.Leu2670fs) rs1555251254
NM_014363.6(SACS):c.8009dup (p.Leu2670fs)
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.8026A>G (p.Thr2676Ala)
NM_014363.6(SACS):c.8027C>G (p.Thr2676Arg)
NM_014363.6(SACS):c.8028A>G (p.Thr2676=)
NM_014363.6(SACS):c.8029C>T (p.Gln2677Ter) rs1555251241
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.8053T>C (p.Tyr2685His)
NM_014363.6(SACS):c.8056C>T (p.Leu2686=) rs748595405
NM_014363.6(SACS):c.8062A>G (p.Thr2688Ala)
NM_014363.6(SACS):c.8063C>A (p.Thr2688Asn)
NM_014363.6(SACS):c.8064C>A (p.Thr2688=) rs1868538797
NM_014363.6(SACS):c.8067T>C (p.His2689=)
NM_014363.6(SACS):c.8070del (p.Phe2690fs)
NM_014363.6(SACS):c.8071A>T (p.Lys2691Ter)
NM_014363.6(SACS):c.8074C>A (p.Leu2692Met)
NM_014363.6(SACS):c.8080A>T (p.Asn2694Tyr) rs1390533003
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.8132C>A (p.Ser2711Ter) rs1213203489
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.8221del (p.Asn2742fs) rs1555251151
NM_014363.6(SACS):c.8222T>C (p.Leu2741Pro)
NM_014363.6(SACS):c.8226T>C (p.Asn2742=) rs2137593985
NM_014363.6(SACS):c.8227del (p.His2743fs) rs2137593965
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.8239dup (p.Ile2747fs)
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.8269G>A (p.Gly2757Arg) rs1085307756
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.827G>A (p.Arg276His)
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.8305dup (p.Ile2769fs) rs1279988199
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.832C>T (p.Gln278Ter) rs1555254439
NM_014363.6(SACS):c.8330G>A (p.Arg2777Lys) rs1868501054
NM_014363.6(SACS):c.8340del (p.His2781fs) rs753958013
NM_014363.6(SACS):c.8341C>G (p.His2781Asp) rs886050080
NM_014363.6(SACS):c.8344_8345delinsAT (p.Ala2782Ile) rs386768924
NM_014363.6(SACS):c.8349T>C (p.Ser2783=)
NM_014363.6(SACS):c.8352A>C (p.Val2784=) rs1453849346
NM_014363.6(SACS):c.8362G>A (p.Val2788Ile)
NM_014363.6(SACS):c.8364T>C (p.Val2788=)
NM_014363.6(SACS):c.8367T>C (p.Thr2789=)
NM_014363.6(SACS):c.8374A>T (p.Arg2792Trp)
NM_014363.6(SACS):c.8374_8375del (p.Arg2792fs)
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.8404_8407del (p.Ile2802fs)
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.8426A>C (p.Glu2809Ala)
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.8454G>T (p.Trp2818Cys)
NM_014363.6(SACS):c.8455C>T (p.Leu2819=)
NM_014363.6(SACS):c.8471C>G (p.Ser2824Ter) rs1868480299
NM_014363.6(SACS):c.847A>G (p.Ser283Gly)
NM_014363.6(SACS):c.8480C>A (p.Ser2827Ter) rs1555251015
NM_014363.6(SACS):c.8487G>A (p.Met2829Ile) rs1566062847
NM_014363.6(SACS):c.848GTA[1] (p.Ser284del) rs1555254436
NM_014363.6(SACS):c.8490G>C (p.Glu2830Asp)
NM_014363.6(SACS):c.8495T>C (p.Val2832Ala) rs1593126225
NM_014363.6(SACS):c.8496A>T (p.Val2832=) rs2137591469
NM_014363.6(SACS):c.8497_8500del (p.Ser2833fs) rs1555251007
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.8512_8514del (p.Ser2838del) rs1555251001
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.8542_8543del (p.Phe2848fs) rs876657721
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.8574_8577del (p.His2859fs) rs1555250991
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.8589dup (p.Pro2864fs) rs1555250987
NM_014363.6(SACS):c.858C>T (p.Leu286=) rs1870340453
NM_014363.6(SACS):c.8596A>G (p.Arg2866Gly) rs1868466055
NM_014363.6(SACS):c.8604C>T (p.Phe2868=) rs1031471964
NM_014363.6(SACS):c.8610T>C (p.Phe2870=)
NM_014363.6(SACS):c.8612dup (p.Leu2871fs) rs1057517212
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.8647G>A (p.Val2883Met)
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.8729A>G (p.Asn2910Ser) rs2137589975
NM_014363.6(SACS):c.8733_8734del (p.Asn2911fs) rs1057517020
NM_014363.6(SACS):c.8740A>G (p.Met2914Val)
NM_014363.6(SACS):c.8755G>T (p.Ala2919Ser) rs886050079
NM_014363.6(SACS):c.8765_8766del (p.Tyr2922fs)
NM_014363.6(SACS):c.8765dup (p.Tyr2922Ter) rs2137589721
NM_014363.6(SACS):c.8768T>C (p.Val2923Ala) rs1566062448
NM_014363.6(SACS):c.8773T>C (p.Leu2925=) rs2137589672
NM_014363.6(SACS):c.8778A>G (p.Leu2926=)
NM_014363.6(SACS):c.877C>A (p.Leu293Ile)
NM_014363.6(SACS):c.8790_8793del (p.Lys2930fs)
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.8802C>T (p.Phe2934=) rs1868452276
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.8842C>T (p.Pro2948Ser)
NM_014363.6(SACS):c.8844T>G (p.Pro2948=)
NM_014363.6(SACS):c.8848_8849dup (p.Val2951fs) rs797044608
NM_014363.6(SACS):c.8849A>C (p.His2950Pro)
NM_014363.6(SACS):c.884T>A (p.Leu295Ter)
NM_014363.6(SACS):c.8853T>G (p.Val2951=) rs9552929
NM_014363.6(SACS):c.8858A>C (p.Lys2953Thr) rs1868444121
NM_014363.6(SACS):c.8861A>G (p.Asp2954Gly)
NM_014363.6(SACS):c.8864C>A (p.Thr2955Asn)
NM_014363.6(SACS):c.8867T>A (p.Leu2956Ter) rs1057516853
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg) rs11839380
NM_014363.6(SACS):c.8873del (p.Lys2958fs) rs765992922
NM_014363.6(SACS):c.8888del (p.Phe2963fs) rs1555250872
NM_014363.6(SACS):c.888T>C (p.Phe296=)
NM_014363.6(SACS):c.8899C>A (p.Arg2967Ser) rs746834684
NM_014363.6(SACS):c.8902C>T (p.Leu2968Phe) rs768978881
NM_014363.6(SACS):c.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.892_895delinsAC (p.Ser298fs)
NM_014363.6(SACS):c.8931A>T (p.Leu2977=) rs376228714
NM_014363.6(SACS):c.8934G>A (p.Val2978=)
NM_014363.6(SACS):c.8942T>C (p.Leu2981Pro)
NM_014363.6(SACS):c.8955del (p.His2986fs) rs1228783766
NM_014363.6(SACS):c.896_898delinsCT (p.Phe299fs)
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.9043A>G (p.Ile3015Val) rs768103747
NM_014363.6(SACS):c.9052T>C (p.Ser3018Pro)
NM_014363.6(SACS):c.9055A>G (p.Thr3019Ala) rs2137587151
NM_014363.6(SACS):c.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.9076T>A (p.Phe3026Ile)
NM_014363.6(SACS):c.9081dup (p.Asp3028Ter) rs2137586930
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.9108A>C (p.Gln3036His)
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.9119del (p.Asn3040fs)
NM_014363.6(SACS):c.9119dup (p.Asn3040fs) rs1435126137
NM_014363.6(SACS):c.9122C>A (p.Ala3041Glu)
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.914_915del (p.Thr305fs) rs2137726985
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.9272_9275del (p.Ser3091fs)
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.9286G>A (p.Ala3096Thr) rs1085307569
NM_014363.6(SACS):c.9292dup (p.Ile3098fs)
NM_014363.6(SACS):c.9293T>G (p.Ile3098Ser)
NM_014363.6(SACS):c.9293del (p.Ile3098fs)
NM_014363.6(SACS):c.9310A>G (p.Thr3104Ala)
NM_014363.6(SACS):c.9311del (p.Thr3104fs)
NM_014363.6(SACS):c.9328A>G (p.Thr3110Ala) rs1883705967
NM_014363.6(SACS):c.9330T>C (p.Thr3110=)
NM_014363.6(SACS):c.9332del (p.Asn3111fs) rs1883705830
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.9356GTC[1] (p.Arg3120del) rs1388341388
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.9375_9379del (p.Asn3125fs) rs1555250684
NM_014363.6(SACS):c.9376del (p.Asn3125_Leu3126insTer)
NM_014363.6(SACS):c.9377dup (p.Leu3128fs) rs1057516875
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.9390_9391del (p.His3130fs) rs1057517349
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.9412T>G (p.Tyr3138Asp) rs1208382588
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.9447del (p.Val3150fs) rs1555250653
NM_014363.6(SACS):c.9462C>G (p.Pro3154=)
NM_014363.6(SACS):c.9463C>T (p.Leu3155Phe)
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.9482G>A (p.Ser3161Asn)
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.9498del (p.Phe3166fs) rs1555250642
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.9523ACA[1] (p.Thr3176del) rs1161557781
NM_014363.6(SACS):c.9528A>G (p.Thr3176=)
NM_014363.6(SACS):c.9534T>C (p.His3178=) rs1029799719
NM_014363.6(SACS):c.9537_9541del (p.Glu3179fs) rs1064796097
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.9572C>T (p.Thr3191Ile) rs1883687760
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.9580_9587delinsC (p.Lys3195fs)
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.9603G>C (p.Leu3201Phe)
NM_014363.6(SACS):c.9605A>C (p.Asn3202Thr)
NM_014363.6(SACS):c.9608G>A (p.Cys3203Tyr)
NM_014363.6(SACS):c.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.9625_9628del (p.Phe3209fs) rs1555250557
NM_014363.6(SACS):c.9630C>T (p.Asp3210=)
NM_014363.6(SACS):c.9635C>T (p.Ser3212Phe)
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.964G>T (p.Glu322Ter) rs1593145590
NM_014363.6(SACS):c.9651G>A (p.Leu3217=) rs778613923
NM_014363.6(SACS):c.9653T>G (p.Leu3218Ter) rs2137582138
NM_014363.6(SACS):c.9657C>T (p.Ser3219=)
NM_014363.6(SACS):c.9659_9660del (p.Ser3220fs) rs2137582027
NM_014363.6(SACS):c.9660dup (p.Val3221fs)
NM_014363.6(SACS):c.9663G>A (p.Val3221=)
NM_014363.6(SACS):c.9663_9664del (p.Leu3222fs)
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.9692G>T (p.Cys3231Phe)
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.9742T>C (p.Trp3248Arg) rs137853018
NM_014363.6(SACS):c.9744G>A (p.Trp3248Ter) rs1883673959
NM_014363.6(SACS):c.974G>A (p.Gly325Glu)
NM_014363.6(SACS):c.9754A>G (p.Ser3252Gly) rs1593124621
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.9762del (p.Ser3254_Val3255insTer)
NM_014363.6(SACS):c.9763_9764del (p.Val3255fs) rs1555250508
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.9774AGA[1] (p.Glu3259del) rs768958169
NM_014363.6(SACS):c.9779A>G (p.Asp3260Gly) rs1883670937
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.980A>C (p.Glu327Ala)
NM_014363.6(SACS):c.9815T>G (p.Val3272Gly)
NM_014363.6(SACS):c.9818_9831del (p.Asp3273fs) rs1057516464
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.9833G>A (p.Trp3278Ter)
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.9844C>A (p.Pro3282Thr) rs2137580315
NM_014363.6(SACS):c.9846A>C (p.Pro3282=) rs61753111
NM_014363.6(SACS):c.9850A>G (p.Thr3284Ala)
NM_014363.6(SACS):c.9851del (p.Thr3284fs)
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.9879del (p.Val3294fs) rs2137580025
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.9893_9895del (p.Gly3298del) rs1293576848
NM_014363.6(SACS):c.9896A>C (p.Asp3299Ala)
NM_014363.6(SACS):c.9898_9900del (p.Val3300del) rs762506287
NM_014363.6(SACS):c.9903G>C (p.Leu3301=)
NM_014363.6(SACS):c.9905T>C (p.Leu3302Pro) rs2137579752
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.9939A>G (p.Pro3313=) rs1593124327
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>G (p.Leu3324Val)
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.998_999del (p.Val333fs)
NM_014363.6(SACS):c.999G>C (p.Val333=) rs2137726131
NM_014363.6(SACS):c.9C>T (p.Thr3=)
NM_014363.6(SACS):c.[7504C>T;8132C>T]

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