ClinVar Miner

List of variants in gene SACS reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 433
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.-531G>A rs73154650 0.02896
NM_014363.6(SACS):c.*916T>A rs75389729 0.00926
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00597
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser) rs78239814 0.00495
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787 0.00328
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00212
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_014363.6(SACS):c.*777T>C rs77645021 0.00193
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr) rs111920492 0.00117
NM_014363.6(SACS):c.1378C>T (p.Leu460Phe) rs145213666 0.00091
NM_014363.6(SACS):c.9852A>G (p.Thr3284=) rs147506904 0.00090
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile) rs150981983 0.00088
NM_014363.6(SACS):c.1917A>G (p.Ala639=) rs138457742 0.00084
NM_014363.6(SACS):c.8972G>A (p.Arg2991His) rs192610957 0.00084
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr) rs149638449 0.00071
NM_014363.6(SACS):c.10668G>A (p.Leu3556=) rs139517699 0.00070
NM_014363.6(SACS):c.2234G>A (p.Arg745His) rs143677534 0.00062
NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu) rs147013767 0.00060
NM_014363.6(SACS):c.4985C>T (p.Thr1662Met) rs139387396 0.00057
NM_014363.6(SACS):c.2602A>G (p.Ile868Val) rs142284018 0.00040
NM_014363.6(SACS):c.1278A>T (p.Leu426Phe) rs138413501 0.00033
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.2580A>G (p.Gln860=) rs41283958 0.00031
NM_014363.6(SACS):c.439G>C (p.Asp147His) rs202226274 0.00031
NM_014363.6(SACS):c.*222T>C rs577703833 0.00029
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu) rs137905181 0.00029
NM_014363.6(SACS):c.1273C>A (p.Pro425Thr) rs142024534 0.00026
NM_014363.6(SACS):c.2806C>A (p.Gln936Lys) rs61978562 0.00024
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr) rs147949881 0.00022
NM_014363.6(SACS):c.973G>A (p.Gly325Arg) rs144303334 0.00021
NM_014363.6(SACS):c.9275A>T (p.Tyr3092Phe) rs139579036 0.00020
NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser) rs201558584 0.00019
NM_014363.6(SACS):c.2492A>G (p.Glu831Gly) rs375968367 0.00017
NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys) rs138379074 0.00017
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys) rs61754478 0.00017
NM_014363.6(SACS):c.11048A>G (p.Asn3683Ser) rs138609508 0.00015
NM_014363.6(SACS):c.11703T>C (p.Asn3901=) rs146154135 0.00015
NM_014363.6(SACS):c.1219C>A (p.Leu407Ile) rs201569239 0.00013
NM_014363.6(SACS):c.2643G>C (p.Glu881Asp) rs200517685 0.00013
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val) rs186436335 0.00013
NM_014363.6(SACS):c.2329T>C (p.Ser777Pro) rs147837803 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.2294A>G (p.Tyr765Cys) rs141553858 0.00011
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met) rs200810800 0.00011
NM_014363.6(SACS):c.5903C>T (p.Ala1968Val) rs201866523 0.00011
NM_014363.6(SACS):c.1033C>T (p.Arg345Trp) rs776156836 0.00010
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn) rs372359781 0.00010
NM_014363.6(SACS):c.2681C>T (p.Ser894Leu) rs201857647 0.00010
NM_014363.6(SACS):c.12260A>G (p.Tyr4087Cys) rs373478772 0.00009
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu) rs375875022 0.00009
NM_014363.6(SACS):c.7288G>A (p.Glu2430Lys) rs201798841 0.00009
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys) rs749383532 0.00008
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr) rs371869943 0.00008
NM_014363.6(SACS):c.5744A>G (p.His1915Arg) rs144822691 0.00008
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu) rs747676277 0.00008
NM_014363.6(SACS):c.10238A>G (p.Tyr3413Cys) rs371980996 0.00007
NM_014363.6(SACS):c.10454T>C (p.Ile3485Thr) rs200950824 0.00007
NM_014363.6(SACS):c.1067T>C (p.Ile356Thr) rs149444716 0.00007
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr) rs201505036 0.00007
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln) rs148925505 0.00007
NM_014363.6(SACS):c.1255A>G (p.Ile419Val) rs767818359 0.00007
NM_014363.6(SACS):c.12811C>T (p.Pro4271Ser) rs768414125 0.00007
NM_014363.6(SACS):c.175T>A (p.Ser59Thr) rs539836931 0.00007
NM_014363.6(SACS):c.6178G>C (p.Val2060Leu) rs373226693 0.00007
NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu) rs370095300 0.00007
NM_014363.6(SACS):c.6278G>A (p.Arg2093His) rs150018812 0.00007
NM_014363.6(SACS):c.9791C>G (p.Thr3264Arg) rs758563983 0.00007
NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr) rs200707453 0.00006
NM_014363.6(SACS):c.13106A>G (p.Asp4369Gly) rs770895110 0.00006
NM_014363.6(SACS):c.2024A>G (p.Asn675Ser) rs146395198 0.00006
NM_014363.6(SACS):c.2423T>C (p.Leu808Pro) rs923118368 0.00006
NM_014363.6(SACS):c.2551G>T (p.Val851Phe) rs756890722 0.00006
NM_014363.6(SACS):c.432G>T (p.Trp144Cys) rs368570790 0.00006
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala) rs556248979 0.00006
NM_014363.6(SACS):c.11717C>T (p.Ala3906Val) rs375961779 0.00005
NM_014363.6(SACS):c.1202G>A (p.Arg401Gln) rs749599838 0.00005
NM_014363.6(SACS):c.13316A>G (p.Lys4439Arg) rs765556647 0.00005
NM_014363.6(SACS):c.1537A>G (p.Ile513Val) rs199806204 0.00005
NM_014363.6(SACS):c.1613C>T (p.Ala538Val) rs368043113 0.00005
NM_014363.6(SACS):c.2180C>G (p.Thr727Ser) rs61760905 0.00005
NM_014363.6(SACS):c.3915T>C (p.His1305=) rs767598017 0.00005
NM_014363.6(SACS):c.4255A>G (p.Ile1419Val) rs138245586 0.00005
NM_014363.6(SACS):c.5971G>A (p.Val1991Ile) rs191995849 0.00005
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys) rs754033201 0.00005
NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu) rs755723511 0.00005
NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile) rs200591364 0.00004
NM_014363.6(SACS):c.10256G>A (p.Arg3419His) rs536675517 0.00004
NM_014363.6(SACS):c.10576A>G (p.Ile3526Val) rs199881455 0.00004
NM_014363.6(SACS):c.10737G>A (p.Met3579Ile) rs199970621 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.12367A>G (p.Met4123Val) rs772068772 0.00004
NM_014363.6(SACS):c.12968C>T (p.Ser4323Leu) rs150225486 0.00004
NM_014363.6(SACS):c.1387C>A (p.His463Asn) rs149951538 0.00004
NM_014363.6(SACS):c.1913G>A (p.Cys638Tyr) rs778572943 0.00004
NM_014363.6(SACS):c.3283G>A (p.Glu1095Lys) rs200594912 0.00004
NM_014363.6(SACS):c.4628A>G (p.Glu1543Gly) rs370324250 0.00004
NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln) rs764992284 0.00004
NM_014363.6(SACS):c.7147C>T (p.Arg2383Cys) rs772611372 0.00004
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala) rs763504656 0.00004
NM_014363.6(SACS):c.8336A>T (p.Gln2779Leu) rs749327297 0.00004
NM_014363.6(SACS):c.9031A>G (p.Ile3011Val) rs377657177 0.00004
NM_014363.6(SACS):c.9251T>C (p.Ile3084Thr) rs149290718 0.00004
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser) rs375898103 0.00003
NM_014363.6(SACS):c.10255C>T (p.Arg3419Cys) rs765758197 0.00003
NM_014363.6(SACS):c.10675C>G (p.Pro3559Ala) rs767704103 0.00003
NM_014363.6(SACS):c.10787C>T (p.Ser3596Phe) rs755172172 0.00003
NM_014363.6(SACS):c.1123G>A (p.Val375Ile) rs137924716 0.00003
NM_014363.6(SACS):c.11309C>G (p.Ala3770Gly) rs1170997950 0.00003
NM_014363.6(SACS):c.11776G>A (p.Asp3926Asn) rs756252903 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.12818T>G (p.Leu4273Arg) rs777946704 0.00003
NM_014363.6(SACS):c.1543C>T (p.Arg515Cys) rs752833893 0.00003
NM_014363.6(SACS):c.1846G>C (p.Ala616Pro) rs200437752 0.00003
NM_014363.6(SACS):c.1906C>T (p.Arg636Trp) rs201752905 0.00003
NM_014363.6(SACS):c.2594A>C (p.Lys865Thr) rs1011829313 0.00003
NM_014363.6(SACS):c.2853C>A (p.His951Gln) rs200644511 0.00003
NM_014363.6(SACS):c.2927G>A (p.Arg976His) rs751415868 0.00003
NM_014363.6(SACS):c.3052G>A (p.Glu1018Lys) rs770999085 0.00003
NM_014363.6(SACS):c.394T>G (p.Leu132Val) rs553107347 0.00003
NM_014363.6(SACS):c.416G>A (p.Gly139Glu) rs759987183 0.00003
NM_014363.6(SACS):c.4318A>G (p.Ser1440Gly) rs1172044277 0.00003
NM_014363.6(SACS):c.4654A>C (p.Lys1552Gln) rs376178701 0.00003
NM_014363.6(SACS):c.4955A>G (p.Gln1652Arg) rs148824690 0.00003
NM_014363.6(SACS):c.5842G>A (p.Asp1948Asn) rs772515267 0.00003
NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys) rs762896797 0.00003
NM_014363.6(SACS):c.7916T>C (p.Ile2639Thr) rs202144442 0.00003
NM_014363.6(SACS):c.8142G>A (p.Ser2714=) rs530250252 0.00003
NM_014363.6(SACS):c.8192G>A (p.Arg2731His) rs201127191 0.00003
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val) rs760976439 0.00003
NM_014363.6(SACS):c.9245G>A (p.Cys3082Tyr) rs761695127 0.00003
NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys) rs747013127 0.00002
NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser) rs376188585 0.00002
NM_014363.6(SACS):c.11302A>G (p.Thr3768Ala) rs774463808 0.00002
NM_014363.6(SACS):c.11380G>T (p.Val3794Phe) rs753844954 0.00002
NM_014363.6(SACS):c.11942A>G (p.Gln3981Arg) rs747314113 0.00002
NM_014363.6(SACS):c.12130G>C (p.Gly4044Arg) rs753511073 0.00002
NM_014363.6(SACS):c.1310C>T (p.Thr437Met) rs199657817 0.00002
NM_014363.6(SACS):c.13244A>G (p.Gln4415Arg) rs772374399 0.00002
NM_014363.6(SACS):c.2572T>G (p.Ser858Ala) rs762493571 0.00002
NM_014363.6(SACS):c.2585C>T (p.Pro862Leu) rs776290829 0.00002
NM_014363.6(SACS):c.263G>A (p.Arg88Gln) rs746670792 0.00002
NM_014363.6(SACS):c.2686C>T (p.Leu896Phe) rs760556327 0.00002
NM_014363.6(SACS):c.4723C>T (p.Arg1575Trp) rs1426756976 0.00002
NM_014363.6(SACS):c.494C>T (p.Thr165Ile) rs1419027987 0.00002
NM_014363.6(SACS):c.5323G>A (p.Ala1775Thr) rs1002701621 0.00002
NM_014363.6(SACS):c.5630G>A (p.Arg1877Gln) rs772866081 0.00002
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met) rs368494148 0.00002
NM_014363.6(SACS):c.6240T>C (p.Val2080=) rs550680855 0.00002
NM_014363.6(SACS):c.6518T>C (p.Ile2173Thr) rs368624188 0.00002
NM_014363.6(SACS):c.7466C>A (p.Pro2489His) rs766553685 0.00002
NM_014363.6(SACS):c.8819C>T (p.Thr2940Ile) rs1326604025 0.00002
NM_014363.6(SACS):c.8942T>C (p.Leu2981Pro) rs1447340874 0.00002
NM_014363.6(SACS):c.9805G>A (p.Asp3269Asn) rs754144089 0.00002
NM_014363.6(SACS):c.10276T>C (p.Phe3426Leu) rs1883631517 0.00001
NM_014363.6(SACS):c.10415A>G (p.Asp3472Gly) rs759801095 0.00001
NM_014363.6(SACS):c.1061C>G (p.Thr354Ser) rs1425519295 0.00001
NM_014363.6(SACS):c.10766T>C (p.Ile3589Thr) rs551720360 0.00001
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln) rs281865119 0.00001
NM_014363.6(SACS):c.11137C>A (p.Pro3713Thr) rs1262888602 0.00001
NM_014363.6(SACS):c.11207T>C (p.Met3736Thr) rs759433888 0.00001
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet) rs1454517884 0.00001
NM_014363.6(SACS):c.11624G>A (p.Arg3875His) rs863224916 0.00001
NM_014363.6(SACS):c.11737G>C (p.Asp3913His) rs746782589 0.00001
NM_014363.6(SACS):c.11887A>G (p.Met3963Val) rs375613914 0.00001
NM_014363.6(SACS):c.11899C>G (p.Gln3967Glu) rs1261408099 0.00001
NM_014363.6(SACS):c.12173G>A (p.Arg4058Lys) rs1397700836 0.00001
NM_014363.6(SACS):c.12404A>G (p.Lys4135Arg) rs769202221 0.00001
NM_014363.6(SACS):c.12613A>G (p.Ile4205Val) rs756979757 0.00001
NM_014363.6(SACS):c.12902A>G (p.Asn4301Ser) rs748415049 0.00001
NM_014363.6(SACS):c.13273G>A (p.Gly4425Arg) rs754693143 0.00001
NM_014363.6(SACS):c.13282T>G (p.Tyr4428Asp) rs886050071 0.00001
NM_014363.6(SACS):c.13503A>C (p.Lys4501Asn) rs755850308 0.00001
NM_014363.6(SACS):c.13520A>G (p.Gln4507Arg) rs1439472360 0.00001
NM_014363.6(SACS):c.13610G>A (p.Arg4537Lys) rs763212039 0.00001
NM_014363.6(SACS):c.1406G>A (p.Gly469Asp) rs759808501 0.00001
NM_014363.6(SACS):c.1498G>A (p.Val500Ile) rs1244967438 0.00001
NM_014363.6(SACS):c.1654C>G (p.Leu552Val) rs767218921 0.00001
NM_014363.6(SACS):c.1907G>A (p.Arg636Gln) rs368944813 0.00001
NM_014363.6(SACS):c.2092A>T (p.Arg698Trp) rs965068037 0.00001
NM_014363.6(SACS):c.2223A>T (p.Glu741Asp) rs1203567131 0.00001
NM_014363.6(SACS):c.2233C>T (p.Arg745Cys) rs536614181 0.00001
NM_014363.6(SACS):c.2374G>C (p.Glu792Gln) rs1253142492 0.00001
NM_014363.6(SACS):c.2471C>T (p.Ser824Leu) rs762821420 0.00001
NM_014363.6(SACS):c.2599T>C (p.Tyr867His) rs774682589 0.00001
NM_014363.6(SACS):c.2611C>T (p.Pro871Ser) rs370103461 0.00001
NM_014363.6(SACS):c.2997T>A (p.Ile999=) rs1869142388 0.00001
NM_014363.6(SACS):c.3017A>G (p.His1006Arg) rs368149368 0.00001
NM_014363.6(SACS):c.3346G>A (p.Gly1116Ser) rs774044532 0.00001
NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala) rs1443000762 0.00001
NM_014363.6(SACS):c.3613A>G (p.Ile1205Val) rs764034262 0.00001
NM_014363.6(SACS):c.3868G>T (p.Ala1290Ser) rs757939935 0.00001
NM_014363.6(SACS):c.3912G>T (p.Leu1304Phe) rs753675356 0.00001
NM_014363.6(SACS):c.4469C>G (p.Ala1490Gly) rs886043557 0.00001
NM_014363.6(SACS):c.4538G>C (p.Gly1513Ala) rs768073167 0.00001
NM_014363.6(SACS):c.4597T>G (p.Ser1533Ala) rs1230237404 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.482A>G (p.Asn161Ser) rs746069731 0.00001
NM_014363.6(SACS):c.4840T>C (p.Phe1614Leu) rs771080306 0.00001
NM_014363.6(SACS):c.4846A>C (p.Asn1616His) rs979327782 0.00001
NM_014363.6(SACS):c.4913G>A (p.Ser1638Asn) rs774163551 0.00001
NM_014363.6(SACS):c.4916A>G (p.Tyr1639Cys) rs1566068293 0.00001
NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys) rs1269546947 0.00001
NM_014363.6(SACS):c.508C>T (p.His170Tyr) rs1331763729 0.00001
NM_014363.6(SACS):c.511G>A (p.Gly171Ser) rs1376756373 0.00001
NM_014363.6(SACS):c.5162C>T (p.Ser1721Phe) rs751485703 0.00001
NM_014363.6(SACS):c.5470A>G (p.Met1824Val) rs751881726 0.00001
NM_014363.6(SACS):c.5786G>A (p.Arg1929Gln) rs1422351378 0.00001
NM_014363.6(SACS):c.5848G>A (p.Asp1950Asn) rs370902090 0.00001
NM_014363.6(SACS):c.5932G>A (p.Val1978Ile) rs373812430 0.00001
NM_014363.6(SACS):c.5935T>G (p.Phe1979Val) rs749322141 0.00001
NM_014363.6(SACS):c.593A>G (p.Tyr198Cys) rs1461096954 0.00001
NM_014363.6(SACS):c.6149C>G (p.Thr2050Arg) rs747509451 0.00001
NM_014363.6(SACS):c.6179T>C (p.Val2060Ala) rs779589728 0.00001
NM_014363.6(SACS):c.623G>T (p.Ser208Ile) rs911764681 0.00001
NM_014363.6(SACS):c.6343C>T (p.His2115Tyr) rs757161092 0.00001
NM_014363.6(SACS):c.6485A>G (p.Asp2162Gly) rs369388933 0.00001
NM_014363.6(SACS):c.6776C>T (p.Pro2259Leu) rs150098233 0.00001
NM_014363.6(SACS):c.6778A>G (p.Ile2260Val) rs202110208 0.00001
NM_014363.6(SACS):c.6859A>C (p.Lys2287Gln) rs1397588851 0.00001
NM_014363.6(SACS):c.6993A>T (p.Glu2331Asp) rs759201960 0.00001
NM_014363.6(SACS):c.7171G>A (p.Val2391Met) rs760087813 0.00001
NM_014363.6(SACS):c.7262T>A (p.Phe2421Tyr) rs1213144547 0.00001
NM_014363.6(SACS):c.727C>G (p.Leu243Val) rs764837003 0.00001
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val) rs1007936574 0.00001
NM_014363.6(SACS):c.7406A>G (p.Asn2469Ser) rs1288769278 0.00001
NM_014363.6(SACS):c.751G>A (p.Val251Ile) rs776176699 0.00001
NM_014363.6(SACS):c.7742C>T (p.Ala2581Val) rs866333277 0.00001
NM_014363.6(SACS):c.7819C>A (p.Leu2607Ile) rs753584300 0.00001
NM_014363.6(SACS):c.7993C>T (p.Arg2665Cys) rs749931330 0.00001
NM_014363.6(SACS):c.8108G>A (p.Arg2703His) rs750181262 0.00001
NM_014363.6(SACS):c.8133G>A (p.Ser2711=) rs143386746 0.00001
NM_014363.6(SACS):c.8166G>T (p.Met2722Ile) rs1327898921 0.00001
NM_014363.6(SACS):c.8233G>A (p.Glu2745Lys) rs745462710 0.00001
NM_014363.6(SACS):c.8330G>A (p.Arg2777Lys) rs1868501054 0.00001
NM_014363.6(SACS):c.8362G>A (p.Val2788Ile) rs766202221 0.00001
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile) rs772742353 0.00001
NM_014363.6(SACS):c.8426A>C (p.Glu2809Ala) rs1014170767 0.00001
NM_014363.6(SACS):c.8795G>A (p.Arg2932Gln) rs770769237 0.00001
NM_014363.6(SACS):c.8836A>G (p.Asn2946Asp) rs184407783 0.00001
NM_014363.6(SACS):c.8889C>A (p.Phe2963Leu) rs776647599 0.00001
NM_014363.6(SACS):c.9292A>G (p.Ile3098Val) rs745664974 0.00001
NM_014363.6(SACS):c.9519T>G (p.Phe3173Leu) rs780746393 0.00001
NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys) rs776143384 0.00001
NM_014363.6(SACS):c.9680A>C (p.Lys3227Thr) rs765635417 0.00001
NM_014363.6(SACS):c.9731T>A (p.Leu3244His) rs886042769 0.00001
NM_014363.6(SACS):c.9821C>G (p.Thr3274Ser) rs772932340 0.00001
NM_014363.6(SACS):c.10097A>G (p.His3366Arg)
NM_014363.6(SACS):c.10124G>C (p.Arg3375Thr) rs776727312
NM_014363.6(SACS):c.10158A>G (p.Ala3386=) rs775633710
NM_014363.6(SACS):c.1028A>G (p.His343Arg) rs1340439183
NM_014363.6(SACS):c.10291G>A (p.Val3431Ile) rs144179865
NM_014363.6(SACS):c.10372C>T (p.His3458Tyr) rs756117709
NM_014363.6(SACS):c.10461_10462delinsAA (p.Asn3487_Leu3488delinsLysIle) rs886043821
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu) rs148286091
NM_014363.6(SACS):c.1066A>G (p.Ile356Val) rs148286091
NM_014363.6(SACS):c.10705C>T (p.Leu3569Phe) rs1883603870
NM_014363.6(SACS):c.10730C>A (p.Thr3577Lys) rs2542181120
NM_014363.6(SACS):c.10765A>G (p.Ile3589Val) rs747920603
NM_014363.6(SACS):c.11109C>T (p.Ser3703=) rs1883570677
NM_014363.6(SACS):c.11139C>G (p.Pro3713=) rs1282794513
NM_014363.6(SACS):c.11152G>A (p.Glu3718Lys) rs750040557
NM_014363.6(SACS):c.11205T>G (p.Asn3735Lys)
NM_014363.6(SACS):c.11215G>A (p.Val3739Ile) rs1027336196
NM_014363.6(SACS):c.11296G>A (p.Val3766Ile) rs200930332
NM_014363.6(SACS):c.11428G>A (p.Glu3810Lys) rs2137566624
NM_014363.6(SACS):c.11528G>T (p.Gly3843Val)
NM_014363.6(SACS):c.11708G>A (p.Arg3903Gln) rs768413178
NM_014363.6(SACS):c.11853A>G (p.Leu3951=) rs1883510768
NM_014363.6(SACS):c.11889G>A (p.Met3963Ile) rs1284609721
NM_014363.6(SACS):c.1196G>C (p.Gly399Ala) rs1436708286
NM_014363.6(SACS):c.12182G>A (p.Gly4061Asp) rs1883488232
NM_014363.6(SACS):c.12244G>A (p.Ala4082Thr)
NM_014363.6(SACS):c.12271T>C (p.Ser4091Pro) rs2542157615
NM_014363.6(SACS):c.12326C>A (p.Ala4109Glu) rs2137559516
NM_014363.6(SACS):c.1240C>G (p.Leu414Val)
NM_014363.6(SACS):c.12493C>G (p.His4165Asp)
NM_014363.6(SACS):c.12533C>T (p.Pro4178Leu) rs376168781
NM_014363.6(SACS):c.1258A>G (p.Ile420Val)
NM_014363.6(SACS):c.12618T>C (p.Ile4206=) rs1883457103
NM_014363.6(SACS):c.12828T>G (p.Ile4276Met)
NM_014363.6(SACS):c.12844G>C (p.Gly4282Arg)
NM_014363.6(SACS):c.12905C>G (p.Ser4302Cys) rs778808568
NM_014363.6(SACS):c.12932C>A (p.Thr4311Lys) rs2542146338
NM_014363.6(SACS):c.12950C>T (p.Ala4317Val)
NM_014363.6(SACS):c.12952T>C (p.Trp4318Arg) rs762499265
NM_014363.6(SACS):c.13038C>A (p.Asp4346Glu) rs2137552312
NM_014363.6(SACS):c.13220G>A (p.Ser4407Asn) rs763196673
NM_014363.6(SACS):c.13231G>A (p.Glu4411Lys) rs1883408216
NM_014363.6(SACS):c.13300G>A (p.Val4434Ile)
NM_014363.6(SACS):c.13376C>T (p.Ser4459Leu)
NM_014363.6(SACS):c.1354C>T (p.Pro452Ser) rs1264613496
NM_014363.6(SACS):c.13738_13739del (p.Ter4580LysextTer?) rs776682685
NM_014363.6(SACS):c.1391T>G (p.Ile464Ser) rs1593144937
NM_014363.6(SACS):c.1485T>G (p.Phe495Leu) rs779933721
NM_014363.6(SACS):c.1748A>G (p.Asn583Ser)
NM_014363.6(SACS):c.1969G>T (p.Asp657Tyr) rs2137716974
NM_014363.6(SACS):c.2021G>T (p.Gly674Val) rs770199696
NM_014363.6(SACS):c.2037CTC[1] (p.Ser682del) rs764516069
NM_014363.6(SACS):c.2096C>T (p.Ser699Phe) rs374680967
NM_014363.6(SACS):c.2182C>G (p.Arg728Gly) rs752059006
NM_014363.6(SACS):c.2186-3C>G
NM_014363.6(SACS):c.2186G>A (p.Gly729Glu)
NM_014363.6(SACS):c.2428G>C (p.Glu810Gln) rs2542313662
NM_014363.6(SACS):c.2465T>G (p.Ile822Ser) rs2542312994
NM_014363.6(SACS):c.247T>C (p.Leu83=) rs1470292816
NM_014363.6(SACS):c.2562A>T (p.Lys854Asn) rs879421228
NM_014363.6(SACS):c.2614_2619del (p.Leu872_Pro873del) rs771746381
NM_014363.6(SACS):c.2704G>A (p.Ala902Thr)
NM_014363.6(SACS):c.2726G>T (p.Ser909Ile) rs2137641417
NM_014363.6(SACS):c.2845G>C (p.Val949Leu) rs1869160064
NM_014363.6(SACS):c.2853C>G (p.His951Gln)
NM_014363.6(SACS):c.2894C>T (p.Ser965Leu) rs1869153211
NM_014363.6(SACS):c.2917G>A (p.Ala973Thr)
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser) rs139993038
NM_014363.6(SACS):c.328_330delinsAGT (p.Gly110Ser) rs2542458143
NM_014363.6(SACS):c.3292C>T (p.Leu1098Phe) rs1593132851
NM_014363.6(SACS):c.3358G>C (p.Asp1120His)
NM_014363.6(SACS):c.3370C>G (p.Leu1124Val) rs2137636093
NM_014363.6(SACS):c.3385A>C (p.Lys1129Gln)
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys) rs144267558
NM_014363.6(SACS):c.3427C>G (p.Gln1143Glu) rs144267558
NM_014363.6(SACS):c.3533G>C (p.Cys1178Ser) rs2542294675
NM_014363.6(SACS):c.3700T>A (p.Trp1234Arg) rs1192682879
NM_014363.6(SACS):c.370G>T (p.Ala124Ser) rs1870993183
NM_014363.6(SACS):c.3853T>G (p.Cys1285Gly) rs2137632086
NM_014363.6(SACS):c.3881C>T (p.Pro1294Leu) rs1593132075
NM_014363.6(SACS):c.3976G>C (p.Glu1326Gln)
NM_014363.6(SACS):c.4064A>G (p.Asn1355Ser)
NM_014363.6(SACS):c.4114C>G (p.Pro1372Ala) rs771277349
NM_014363.6(SACS):c.4132C>T (p.Pro1378Ser)
NM_014363.6(SACS):c.4139C>G (p.Pro1380Arg) rs2542285349
NM_014363.6(SACS):c.4279C>A (p.Pro1427Thr) rs527513599
NM_014363.6(SACS):c.4349G>T (p.Gly1450Val) rs1317050000
NM_014363.6(SACS):c.4405G>C (p.Glu1469Gln)
NM_014363.6(SACS):c.4496T>C (p.Met1499Thr) rs779121600
NM_014363.6(SACS):c.4522A>C (p.Asn1508His) rs144653411
NM_014363.6(SACS):c.4546G>A (p.Ala1516Thr) rs757583754
NM_014363.6(SACS):c.4604T>G (p.Phe1535Cys) rs1566068804
NM_014363.6(SACS):c.4606G>T (p.Val1536Leu) rs764832688
NM_014363.6(SACS):c.4697T>C (p.Ile1566Thr)
NM_014363.6(SACS):c.470A>T (p.Tyr157Phe)
NM_014363.6(SACS):c.4747C>A (p.Pro1583Thr) rs1566068552
NM_014363.6(SACS):c.477C>T (p.Tyr159=) rs1870531490
NM_014363.6(SACS):c.4835G>C (p.Arg1612Thr) rs2542275927
NM_014363.6(SACS):c.4880G>A (p.Cys1627Tyr)
NM_014363.6(SACS):c.5079G>A (p.Met1693Ile) rs775069857
NM_014363.6(SACS):c.5102A>T (p.Glu1701Val) rs1868909053
NM_014363.6(SACS):c.5149_5151del (p.Lys1717del) rs754439135
NM_014363.6(SACS):c.5188A>C (p.Ser1730Arg) rs760926837
NM_014363.6(SACS):c.5304_5306del (p.His1769del) rs1555252136
NM_014363.6(SACS):c.5316_5318del (p.Arg1773del)
NM_014363.6(SACS):c.5341C>T (p.Leu1781Phe) rs764461676
NM_014363.6(SACS):c.5462G>A (p.Cys1821Tyr) rs781525831
NM_014363.6(SACS):c.5615G>C (p.Cys1872Ser) rs2542264214
NM_014363.6(SACS):c.5668T>C (p.Phe1890Leu) rs2542263441
NM_014363.6(SACS):c.5671G>C (p.Ala1891Pro) rs1868843160
NM_014363.6(SACS):c.570T>A (p.Phe190Leu)
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.5777G>A (p.Ser1926Asn)
NM_014363.6(SACS):c.5828A>G (p.Tyr1943Cys)
NM_014363.6(SACS):c.5849A>C (p.Asp1950Ala) rs375962720
NM_014363.6(SACS):c.5884G>C (p.Gly1962Arg) rs757708333
NM_014363.6(SACS):c.6008A>C (p.Asp2003Ala) rs537408260
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val) rs537408260
NM_014363.6(SACS):c.6044A>C (p.Tyr2015Ser) rs1131691664
NM_014363.6(SACS):c.6406A>T (p.Thr2136Ser) rs1566066009
NM_014363.6(SACS):c.6435G>C (p.Leu2145Phe) rs1593128652
NM_014363.6(SACS):c.6502G>T (p.Val2168Leu) rs2137609191
NM_014363.6(SACS):c.6512C>G (p.Ala2171Gly) rs765626875
NM_014363.6(SACS):c.6515A>C (p.Glu2172Ala) rs1566065814
NM_014363.6(SACS):c.653A>G (p.His218Arg)
NM_014363.6(SACS):c.6632A>G (p.Gln2211Arg) rs1044714793
NM_014363.6(SACS):c.6702T>A (p.Phe2234Leu) rs774487714
NM_014363.6(SACS):c.6730G>A (p.Asp2244Asn) rs1868692401
NM_014363.6(SACS):c.6751C>A (p.Gln2251Lys) rs747293426
NM_014363.6(SACS):c.6932A>G (p.Tyr2311Cys) rs1566065185
NM_014363.6(SACS):c.7210T>G (p.Leu2404Val) rs1593127760
NM_014363.6(SACS):c.7282A>C (p.Ile2428Leu)
NM_014363.6(SACS):c.7306A>G (p.Ile2436Val) rs567650774
NM_014363.6(SACS):c.7367C>T (p.Thr2456Ile) rs1051632041
NM_014363.6(SACS):c.744A>G (p.Ala248=) rs1448438600
NM_014363.6(SACS):c.7644G>C (p.Glu2548Asp) rs1868579030
NM_014363.6(SACS):c.7763T>C (p.Leu2588Pro) rs1555251328
NM_014363.6(SACS):c.7816A>C (p.Asn2606His) rs2542228327
NM_014363.6(SACS):c.7831A>G (p.Thr2611Ala) rs2542228049
NM_014363.6(SACS):c.7880A>G (p.Asn2627Ser)
NM_014363.6(SACS):c.7940T>A (p.Ile2647Asn) rs934642310
NM_014363.6(SACS):c.7959A>T (p.Arg2653Ser)
NM_014363.6(SACS):c.7975A>G (p.Thr2659Ala)
NM_014363.6(SACS):c.7990G>A (p.Gly2664Arg) rs2137595708
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_014363.6(SACS):c.8063C>A (p.Thr2688Asn) rs1295208131
NM_014363.6(SACS):c.8080A>T (p.Asn2694Tyr) rs1390533003
NM_014363.6(SACS):c.8269G>A (p.Gly2757Arg) rs1085307756
NM_014363.6(SACS):c.8374A>T (p.Arg2792Trp) rs1485827721
NM_014363.6(SACS):c.8393C>G (p.Pro2798Arg)
NM_014363.6(SACS):c.8454G>T (p.Trp2818Cys) rs1868481514
NM_014363.6(SACS):c.8468G>T (p.Arg2823Ile)
NM_014363.6(SACS):c.847A>G (p.Ser283Gly) rs1237449092
NM_014363.6(SACS):c.8495T>C (p.Val2832Ala) rs1593126225
NM_014363.6(SACS):c.8543T>A (p.Phe2848Tyr)
NM_014363.6(SACS):c.8729A>G (p.Asn2910Ser) rs2137589975
NM_014363.6(SACS):c.8848C>G (p.His2950Asp)
NM_014363.6(SACS):c.8867T>C (p.Leu2956Ser)
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.8936A>G (p.Lys2979Arg)
NM_014363.6(SACS):c.9043A>G (p.Ile3015Val) rs768103747
NM_014363.6(SACS):c.9232A>C (p.Asn3078His)
NM_014363.6(SACS):c.9286G>A (p.Ala3096Thr) rs1085307569
NM_014363.6(SACS):c.9359G>T (p.Arg3120Leu) rs569955570
NM_014363.6(SACS):c.9412T>G (p.Tyr3138Asp) rs1208382588
NM_014363.6(SACS):c.9438T>A (p.Asn3146Lys)
NM_014363.6(SACS):c.9463C>T (p.Leu3155Phe) rs2542199616
NM_014363.6(SACS):c.9499G>T (p.Asp3167Tyr)
NM_014363.6(SACS):c.9603G>C (p.Leu3201Phe) rs1455850429
NM_014363.6(SACS):c.9635C>T (p.Ser3212Phe) rs2542196897
NM_014363.6(SACS):c.9656C>T (p.Ser3219Phe)
NM_014363.6(SACS):c.9663G>T (p.Val3221=)
NM_014363.6(SACS):c.972C>A (p.Asp324Glu) rs546652936
NM_014363.6(SACS):c.9754A>G (p.Ser3252Gly) rs1593124621
NM_014363.6(SACS):c.9844C>A (p.Pro3282Thr) rs2137580315
NM_014363.6(SACS):c.9905T>C (p.Leu3302Pro) rs2137579752
NM_014363.6(SACS):c.9970C>G (p.Leu3324Val) rs745704700

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