ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 394
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HGVS dbSNP
NM_014363.6(SACS):c.*1039C>T
NM_014363.6(SACS):c.*1108G>A
NM_014363.6(SACS):c.*1142G>A
NM_014363.6(SACS):c.*1162C>G
NM_014363.6(SACS):c.*1200A>G rs558041482
NM_014363.6(SACS):c.*1292A>T rs147476665
NM_014363.6(SACS):c.*218T>C
NM_014363.6(SACS):c.*222T>C
NM_014363.6(SACS):c.*307A>G rs576860445
NM_014363.6(SACS):c.*394G>A
NM_014363.6(SACS):c.*461G>A
NM_014363.6(SACS):c.*569G>A
NM_014363.6(SACS):c.*625T>A
NM_014363.6(SACS):c.*711A>G
NM_014363.6(SACS):c.*716T>G
NM_014363.6(SACS):c.*777T>C
NM_014363.6(SACS):c.*821A>G
NM_014363.6(SACS):c.*882A>C rs886050069
NM_014363.6(SACS):c.*916T>A
NM_014363.6(SACS):c.*919T>C
NM_014363.6(SACS):c.*942A>G rs886050068
NM_014363.6(SACS):c.-173C>A rs139517739
NM_014363.6(SACS):c.-219A>G rs74495070
NM_014363.6(SACS):c.-331A>C rs560626127
NM_014363.6(SACS):c.-367C>A rs145469796
NM_014363.6(SACS):c.-470C>T rs748973703
NM_014363.6(SACS):c.-489G>A rs886050091
NM_014363.6(SACS):c.-502+2T>G
NM_014363.6(SACS):c.-531G>A rs73154650
NM_014363.6(SACS):c.-59C>A rs150561537
NM_014363.6(SACS):c.-70G>A rs575970347
NM_014363.6(SACS):c.10008A>G (p.Lys3336=) rs148971954
NM_014363.6(SACS):c.10034T>C (p.Val3345Ala) rs767926148
NM_014363.6(SACS):c.10047A>G (p.Ser3349=) rs138909482
NM_014363.6(SACS):c.1004C>T (p.Ser335Leu) rs767435985
NM_014363.6(SACS):c.10064T>G (p.Ile3355Arg) rs372488932
NM_014363.6(SACS):c.10076C>T (p.Thr3359Ile)
NM_014363.6(SACS):c.10096C>T (p.His3366Tyr)
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser) rs375898103
NM_014363.6(SACS):c.10205A>G (p.Asp3402Gly) rs543563990
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg) rs147317123
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu) rs144179865
NM_014363.6(SACS):c.10298C>T (p.Thr3433Ile) rs200991790
NM_014363.6(SACS):c.10305T>C (p.Ser3435=) rs35670472
NM_014363.6(SACS):c.1033C>T (p.Arg345Trp) rs776156836
NM_014363.6(SACS):c.10424_10426del (p.Glu3475del) rs1555250217
NM_014363.6(SACS):c.10443C>G (p.Leu3481=) rs144087359
NM_014363.6(SACS):c.10482A>G (p.Leu3494=) rs149643158
NM_014363.6(SACS):c.10485G>A (p.Glu3495=)
NM_014363.6(SACS):c.10508_10510del (p.Arg3503_Leu3504delinsIle) rs1555250190
NM_014363.6(SACS):c.10513T>C (p.Ser3505Pro)
NM_014363.6(SACS):c.10515A>C (p.Ser3505=)
NM_014363.6(SACS):c.10534G>C (p.Glu3512Gln)
NM_014363.6(SACS):c.10576A>G (p.Ile3526Val) rs199881455
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939
NM_014363.6(SACS):c.10651_10656del (p.Met3551_Leu3552del) rs1555250156
NM_014363.6(SACS):c.1066A>G (p.Ile356Val) rs148286091
NM_014363.6(SACS):c.10699G>A (p.Glu3567Lys) rs886050078
NM_014363.6(SACS):c.10705C>T (p.Leu3569Phe)
NM_014363.6(SACS):c.10716C>G (p.Pro3572=) rs886050077
NM_014363.6(SACS):c.10737G>A (p.Met3579Ile) rs199970621
NM_014363.6(SACS):c.10755_10757del (p.Phe3585del) rs771277098
NM_014363.6(SACS):c.10780A>T (p.Ile3594Leu)
NM_014363.6(SACS):c.10819A>G (p.Ile3607Val)
NM_014363.6(SACS):c.1081A>G (p.Lys361Glu) rs377027736
NM_014363.6(SACS):c.10821C>A (p.Ile3607=) rs113595574
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met) rs35256065
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln) rs281865119
NM_014363.6(SACS):c.10909A>G (p.Met3637Val) rs150309559
NM_014363.6(SACS):c.10967C>G (p.Pro3656Arg) rs886050076
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856
NM_014363.6(SACS):c.10983G>A (p.Ala3661=)
NM_014363.6(SACS):c.11003C>G (p.Pro3668Arg)
NM_014363.6(SACS):c.11027C>T (p.Thr3676Ile)
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln) rs148925505
NM_014363.6(SACS):c.11215G>A (p.Val3739Ile) rs1027336196
NM_014363.6(SACS):c.11301A>T (p.Lys3767Asn) rs762041995
NM_014363.6(SACS):c.11327T>C (p.Ile3776Thr) rs145188410
NM_014363.6(SACS):c.11409G>T (p.Trp3803Cys) rs886050075
NM_014363.6(SACS):c.11576G>A (p.Arg3859His)
NM_014363.6(SACS):c.11688G>A (p.Arg3896=) rs116791509
NM_014363.6(SACS):c.1173T>C (p.Ser391=) rs150683286
NM_014363.6(SACS):c.11792A>G (p.Lys3931Arg) rs764554878
NM_014363.6(SACS):c.11857_11859del (p.Lys3953del) rs1555249772
NM_014363.6(SACS):c.11884A>T (p.Ile3962Leu) rs746953932
NM_014363.6(SACS):c.11927G>A (p.Ser3976Asn)
NM_014363.6(SACS):c.11928T>C (p.Ser3976=) rs145680118
NM_014363.6(SACS):c.12020C>T (p.Ser4007Phe) rs1314135259
NM_014363.6(SACS):c.12035T>C (p.Ile4012Thr)
NM_014363.6(SACS):c.12063T>C (p.His4021=) rs886050074
NM_014363.6(SACS):c.12075T>G (p.Asn4025Lys)
NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu) rs147013767
NM_014363.6(SACS):c.1219C>A (p.Leu407Ile) rs201569239
NM_014363.6(SACS):c.12216T>A (p.Thr4072=) rs574182225
NM_014363.6(SACS):c.12232C>A (p.Arg4078=) rs141315518
NM_014363.6(SACS):c.1224C>T (p.Asp408=) rs2274386
NM_014363.6(SACS):c.12260A>G (p.Tyr4087Cys) rs373478772
NM_014363.6(SACS):c.12438G>A (p.Ser4146=) rs150959878
NM_014363.6(SACS):c.12597A>G (p.Pro4199=) rs112630127
NM_014363.6(SACS):c.1259T>C (p.Ile420Thr)
NM_014363.6(SACS):c.12635G>A (p.Arg4212Lys)
NM_014363.6(SACS):c.12647A>G (p.Asp4216Gly)
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469
NM_014363.6(SACS):c.12661C>G (p.Leu4221Val) rs767622491
NM_014363.6(SACS):c.12688G>A (p.Gly4230Ser) rs746194271
NM_014363.6(SACS):c.12693T>C (p.Tyr4231=)
NM_014363.6(SACS):c.12700T>C (p.Tyr4234His) rs886050073
NM_014363.6(SACS):c.12762C>T (p.Ser4254=) rs11554397
NM_014363.6(SACS):c.12765G>A (p.Arg4255=)
NM_014363.6(SACS):c.12775_12777del (p.Pro4259del) rs1555249469
NM_014363.6(SACS):c.1278A>T (p.Leu426Phe) rs138413501
NM_014363.6(SACS):c.12812C>T (p.Pro4271Leu)
NM_014363.6(SACS):c.12813T>G (p.Pro4271=) rs146376949
NM_014363.6(SACS):c.12816C>T (p.Gly4272=)
NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser) rs370655945
NM_014363.6(SACS):c.12830CTC[1] (p.Pro4278del) rs764766520
NM_014363.6(SACS):c.12835_12837del (p.Leu4279del) rs1555249424
NM_014363.6(SACS):c.12905C>A (p.Ser4302Tyr) rs778808568
NM_014363.6(SACS):c.1297G>C (p.Ala433Pro)
NM_014363.6(SACS):c.12991C>T (p.Arg4331Trp) rs1555249369
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys) rs749383532
NM_014363.6(SACS):c.13031A>G (p.Asn4344Ser) rs886050072
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn) rs372359781
NM_014363.6(SACS):c.13272C>T (p.Ala4424=) rs567495567
NM_014363.6(SACS):c.13281T>A (p.Thr4427=)
NM_014363.6(SACS):c.13282T>G (p.Tyr4428Asp) rs886050071
NM_014363.6(SACS):c.13284C>T (p.Tyr4428=) rs753277514
NM_014363.6(SACS):c.1331C>G (p.Ala444Gly)
NM_014363.6(SACS):c.13320G>A (p.Ser4440=)
NM_014363.6(SACS):c.13344C>T (p.Arg4448=)
NM_014363.6(SACS):c.13349G>A (p.Trp4450Ter) rs1555249236
NM_014363.6(SACS):c.13360del (p.Ala4454fs) rs1555249223
NM_014363.6(SACS):c.13393del (p.Leu4465fs) rs1555249211
NM_014363.6(SACS):c.13409A>G (p.Asn4470Ser)
NM_014363.6(SACS):c.13506A>G (p.Pro4502=) rs1593119067
NM_014363.6(SACS):c.13509T>G (p.Thr4503=)
NM_014363.6(SACS):c.13512A>G (p.Ala4504=) rs886050070
NM_014363.6(SACS):c.13538G>A (p.Ser4513Asn) rs138328181
NM_014363.6(SACS):c.13540C>T (p.Gln4514Ter) rs1555249133
NM_014363.6(SACS):c.13563T>C (p.Asn4521=)
NM_014363.6(SACS):c.13588G>T (p.Gly4530Cys)
NM_014363.6(SACS):c.13614C>G (p.Tyr4538Ter) rs927804920
NM_014363.6(SACS):c.13645A>G (p.Asn4549Asp) rs1178912631
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952
NM_014363.6(SACS):c.13738_13739del (p.Ter4580LysextTer?) rs776682685
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954
NM_014363.6(SACS):c.1378C>T (p.Leu460Phe) rs145213666
NM_014363.6(SACS):c.1420C>T (p.Arg474Cys) rs746704660
NM_014363.6(SACS):c.1435_1436insTTT (p.Trp479_Arg480insPhe) rs1555254306
NM_014363.6(SACS):c.1444C>G (p.Leu482Val)
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu) rs375875022
NM_014363.6(SACS):c.1519A>G (p.Thr507Ala) rs372022664
NM_014363.6(SACS):c.151C>T (p.Leu51=) rs979224977
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr) rs190617851
NM_014363.6(SACS):c.1593C>T (p.Ile531=) rs113756713
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu) rs1440541889
NM_014363.6(SACS):c.1608G>A (p.Pro536=) rs745730439
NM_014363.6(SACS):c.1627G>A (p.Val543Met)
NM_014363.6(SACS):c.1640C>T (p.Pro547Leu) rs140507581
NM_014363.6(SACS):c.169G>C (p.Glu57Gln)
NM_014363.6(SACS):c.171+13C>T rs374672041
NM_014363.6(SACS):c.1728C>T (p.Tyr576=) rs750748828
NM_014363.6(SACS):c.1762A>G (p.Lys588Glu)
NM_014363.6(SACS):c.1791A>T (p.Ser597=) rs371175405
NM_014363.6(SACS):c.1884C>T (p.Pro628=) rs144468379
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr) rs149638449
NM_014363.6(SACS):c.1906C>T (p.Arg636Trp) rs201752905
NM_014363.6(SACS):c.1912T>G (p.Cys638Gly) rs200333323
NM_014363.6(SACS):c.2096C>T (p.Ser699Phe) rs374680967
NM_014363.6(SACS):c.2110C>A (p.Leu704Ile) rs767844042
NM_014363.6(SACS):c.2182C>G (p.Arg728Gly) rs752059006
NM_014363.6(SACS):c.2186-4A>G rs371866995
NM_014363.6(SACS):c.2322A>G (p.Pro774=)
NM_014363.6(SACS):c.2403A>G (p.Pro801=) rs758503842
NM_014363.6(SACS):c.2451C>T (p.Leu817=) rs756595744
NM_014363.6(SACS):c.2487C>T (p.Asp829=) rs151198216
NM_014363.6(SACS):c.2488G>A (p.Asp830Asn)
NM_014363.6(SACS):c.2492A>G (p.Glu831Gly) rs375968367
NM_014363.6(SACS):c.2494T>C (p.Ser832Pro) rs549957998
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys) rs143433500
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958
NM_014363.6(SACS):c.2597A>G (p.Lys866Arg)
NM_014363.6(SACS):c.25G>A (p.Val9Ile)
NM_014363.6(SACS):c.2602A>G (p.Ile868Val) rs142284018
NM_014363.6(SACS):c.2614_2619del (p.Leu872_Pro873del) rs771746381
NM_014363.6(SACS):c.2643G>C (p.Glu881Asp) rs200517685
NM_014363.6(SACS):c.2681C>T (p.Ser894Leu) rs201857647
NM_014363.6(SACS):c.2776A>G (p.Ile926Val) rs144362131
NM_014363.6(SACS):c.2788A>G (p.Ile930Val) rs886050088
NM_014363.6(SACS):c.2791A>T (p.Asn931Tyr)
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser) rs139993038
NM_014363.6(SACS):c.2988A>G (p.Leu996=) rs111846884
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr) rs371869943
NM_014363.6(SACS):c.3017A>G (p.His1006Arg) rs368149368
NM_014363.6(SACS):c.3021_3023del (p.Glu1008del) rs1555252742
NM_014363.6(SACS):c.3042A>G (p.Leu1014=) rs141982796
NM_014363.6(SACS):c.3070A>G (p.Lys1024Glu)
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361
NM_014363.6(SACS):c.3144A>G (p.Val1048=) rs3751369
NM_014363.6(SACS):c.3282C>T (p.Asn1094=) rs145499245
NM_014363.6(SACS):c.3345C>T (p.Val1115=) rs143287019
NM_014363.6(SACS):c.3346G>A (p.Gly1116Ser)
NM_014363.6(SACS):c.3369TCT[1] (p.Leu1125del) rs1555252672
NM_014363.6(SACS):c.3417C>T (p.His1139=) rs758862765
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys) rs144267558
NM_014363.6(SACS):c.345+14C>T rs538944334
NM_014363.6(SACS):c.3545C>T (p.Ala1182Val) rs373859681
NM_014363.6(SACS):c.3557T>C (p.Met1186Thr) rs886050087
NM_014363.6(SACS):c.3615C>T (p.Ile1205=) rs886050086
NM_014363.6(SACS):c.3706_3707insACT (p.Tyr1235dup) rs1555252563
NM_014363.6(SACS):c.3729A>G (p.Glu1243=) rs756663705
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr) rs76872266
NM_014363.6(SACS):c.3768C>T (p.Tyr1256=) rs200350631
NM_014363.6(SACS):c.3868G>T (p.Ala1290Ser) rs757939935
NM_014363.6(SACS):c.3915T>C (p.His1305=) rs767598017
NM_014363.6(SACS):c.396A>G (p.Leu132=) rs1256540997
NM_014363.6(SACS):c.3992A>G (p.His1331Arg)
NM_014363.6(SACS):c.4015A>C (p.Ile1339Leu)
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro) rs61326562
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val) rs61548169
NM_014363.6(SACS):c.4149T>C (p.His1383=) rs749219225
NM_014363.6(SACS):c.4162_4164del (p.Ser1388del) rs755941308
NM_014363.6(SACS):c.4173_4175del (p.Ile1391del) rs1555252463
NM_014363.6(SACS):c.4234C>T (p.Leu1412Phe)
NM_014363.6(SACS):c.4255A>G (p.Ile1419Val)
NM_014363.6(SACS):c.4302A>G (p.Leu1434=) rs34559250
NM_014363.6(SACS):c.432G>T (p.Trp144Cys) rs368570790
NM_014363.6(SACS):c.447G>A (p.Ala149=)
NM_014363.6(SACS):c.4522A>C (p.Asn1508His) rs144653411
NM_014363.6(SACS):c.4612A>G (p.Ile1538Val) rs544249449
NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln)
NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser) rs201558584
NM_014363.6(SACS):c.4782C>G (p.Asp1594Glu)
NM_014363.6(SACS):c.47G>T (p.Gly16Val) rs886050090
NM_014363.6(SACS):c.4900G>C (p.Glu1634Gln) rs143961484
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met) rs200810800
NM_014363.6(SACS):c.4963A>G (p.Lys1655Glu)
NM_014363.6(SACS):c.4976T>G (p.Val1659Gly) rs886050085
NM_014363.6(SACS):c.4986G>A (p.Thr1662=)
NM_014363.6(SACS):c.5043C>T (p.His1681=)
NM_014363.6(SACS):c.5060C>T (p.Thr1687Ile)
NM_014363.6(SACS):c.5064G>A (p.Gln1688=) rs760628805
NM_014363.6(SACS):c.5111_5113dup (p.Pro1705_Ser1706insHis) rs1555252172
NM_014363.6(SACS):c.5149_5151del (p.Lys1717del) rs754439135
NM_014363.6(SACS):c.5169A>G (p.Ala1723=) rs200699984
NM_014363.6(SACS):c.51C>T (p.Cys17=) rs763979020
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile) rs201724656
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.5356G>A (p.Asp1786Asn) rs763496360
NM_014363.6(SACS):c.5358TGA[1] (p.Asp1788del) rs775922113
NM_014363.6(SACS):c.5368G>A (p.Ala1790Thr) rs147517201
NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn) rs144715822
NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys) rs375805688
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg) rs376680832
NM_014363.6(SACS):c.5466T>C (p.Thr1822=)
NM_014363.6(SACS):c.5502G>C (p.Leu1834=) rs34389000
NM_014363.6(SACS):c.5583G>C (p.Trp1861Cys) rs140678034
NM_014363.6(SACS):c.5621T>C (p.Leu1874Ser)
NM_014363.6(SACS):c.5639C>T (p.Thr1880Ile) rs1555252070
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met) rs368494148
NM_014363.6(SACS):c.5744A>G (p.His1915Arg) rs144822691
NM_014363.6(SACS):c.5770G>T (p.Val1924Leu)
NM_014363.6(SACS):c.5785C>T (p.Arg1929Trp)
NM_014363.6(SACS):c.5841C>T (p.Pro1947=) rs145371235
NM_014363.6(SACS):c.5858A>T (p.His1953Leu) rs1428265468
NM_014363.6(SACS):c.5930A>G (p.Lys1977Arg) rs774492331
NM_014363.6(SACS):c.5932G>A (p.Val1978Ile) rs373812430
NM_014363.6(SACS):c.5937_5939del (p.Ser1980del) rs1555251980
NM_014363.6(SACS):c.598A>G (p.Ile200Val)
NM_014363.6(SACS):c.5999_6001del (p.Lys2000del) rs1555251960
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val) rs537408260
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn) rs35865691
NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu) rs747566710
NM_014363.6(SACS):c.6069C>T (p.Asn2023=) rs35369023
NM_014363.6(SACS):c.6070C>G (p.Leu2024Val)
NM_014363.6(SACS):c.6084A>T (p.Glu2028Asp) rs149018756
NM_014363.6(SACS):c.6096G>A (p.Ser2032=)
NM_014363.6(SACS):c.60C>T (p.Cys20=)
NM_014363.6(SACS):c.6119C>G (p.Ala2040Gly)
NM_014363.6(SACS):c.6231_6233del (p.Met2077del) rs1555251880
NM_014363.6(SACS):c.623G>T (p.Ser208Ile) rs911764681
NM_014363.6(SACS):c.6240T>C (p.Val2080=) rs550680855
NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu) rs370095300
NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser) rs80132141
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys) rs754033201
NM_014363.6(SACS):c.6451T>G (p.Leu2151Val) rs886050084
NM_014363.6(SACS):c.6466GAT[1] (p.Asp2157del) rs1204242892
NM_014363.6(SACS):c.6518T>C (p.Ile2173Thr) rs368624188
NM_014363.6(SACS):c.6561C>T (p.Ile2187=) rs143477126
NM_014363.6(SACS):c.6577G>A (p.Asp2193Asn) rs149278134
NM_014363.6(SACS):c.6592_6593insAAAAAAAAA (p.Ile2198_Arg2199insLysLysLys) rs1555251719
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala) rs556248979
NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys) rs138379074
NM_014363.6(SACS):c.6643T>C (p.Phe2215Leu) rs886050083
NM_014363.6(SACS):c.6665CAG[1] (p.Ala2223del) rs1555251695
NM_014363.6(SACS):c.6754G>T (p.Asp2252Tyr) rs886050082
NM_014363.6(SACS):c.6776C>T (p.Pro2259Leu) rs150098233
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795
NM_014363.6(SACS):c.6800_6802del (p.Ser2267del) rs1555251650
NM_014363.6(SACS):c.6844T>C (p.Leu2282=)
NM_014363.6(SACS):c.6856AAG[1] (p.Lys2287del) rs1555251633
NM_014363.6(SACS):c.6857A>G (p.Lys2286Arg) rs754381972
NM_014363.6(SACS):c.6941A>C (p.Asn2314Thr)
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr) rs147949881
NM_014363.6(SACS):c.7079_7081del (p.Ser2360del) rs1555251573
NM_014363.6(SACS):c.7100C>T (p.Ala2367Val) rs752273313
NM_014363.6(SACS):c.7101G>A (p.Ala2367=) rs764702321
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys) rs61754478
NM_014363.6(SACS):c.7147C>T (p.Arg2383Cys)
NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys) rs762896797
NM_014363.6(SACS):c.7165G>A (p.Val2389Met) rs142869943
NM_014363.6(SACS):c.7200T>C (p.Phe2400=) rs148544893
NM_014363.6(SACS):c.7262T>A (p.Phe2421Tyr) rs1213144547
NM_014363.6(SACS):c.736C>G (p.Gln246Glu) rs886050089
NM_014363.6(SACS):c.7376T>C (p.Met2459Thr)
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu)
NM_014363.6(SACS):c.7448_7456del (p.Tyr2483_Ala2486delinsSer) rs1555251416
NM_014363.6(SACS):c.7454A>T (p.His2485Leu)
NM_014363.6(SACS):c.7497C>T (p.Val2499=) rs774558627
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=) rs140034972
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr) rs111920492
NM_014363.6(SACS):c.7535A>G (p.Asn2512Ser) rs777424692
NM_014363.6(SACS):c.7601G>A (p.Ser2534Asn)
NM_014363.6(SACS):c.7614A>C (p.Ala2538=)
NM_014363.6(SACS):c.7647T>G (p.Leu2549=) rs186301471
NM_014363.6(SACS):c.7697A>G (p.Asp2566Gly)
NM_014363.6(SACS):c.7713A>T (p.Pro2571=) rs557113294
NM_014363.6(SACS):c.7725A>T (p.Ile2575=) rs200735789
NM_014363.6(SACS):c.7742C>T (p.Ala2581Val) rs866333277
NM_014363.6(SACS):c.7796ATG[1] (p.Asp2600del) rs1555251315
NM_014363.6(SACS):c.7817A>G (p.Asn2606Ser)
NM_014363.6(SACS):c.7833G>A (p.Thr2611=) rs1237743096
NM_014363.6(SACS):c.7857T>C (p.Thr2619=) rs886050081
NM_014363.6(SACS):c.7915_7920del (p.Ile2639_Ser2640del) rs1555251289
NM_014363.6(SACS):c.7988C>T (p.Pro2663Leu)
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_014363.6(SACS):c.8022T>G (p.Phe2674Leu) rs34928783
NM_014363.6(SACS):c.8056C>T (p.Leu2686=) rs748595405
NM_014363.6(SACS):c.8108G>A (p.Arg2703His) rs750181262
NM_014363.6(SACS):c.810T>G (p.Phe270Leu) rs116907814
NM_014363.6(SACS):c.8191C>T (p.Arg2731Cys)
NM_014363.6(SACS):c.8192G>A (p.Arg2731His)
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val) rs186436335
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala) rs763504656
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787
NM_014363.6(SACS):c.8341C>G (p.His2781Asp) rs886050080
NM_014363.6(SACS):c.8379G>A (p.Gln2793=) rs776028181
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile) rs772742353
NM_014363.6(SACS):c.8482A>G (p.Ser2828Gly) rs9552930
NM_014363.6(SACS):c.848GTA[1] (p.Ser284del) rs1555254436
NM_014363.6(SACS):c.8512_8514del (p.Ser2838del) rs1555251001
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val) rs760976439
NM_014363.6(SACS):c.8577C>T (p.His2859=) rs140016265
NM_014363.6(SACS):c.8579A>G (p.Asn2860Ser) rs201294520
NM_014363.6(SACS):c.8596A>G (p.Arg2866Gly)
NM_014363.6(SACS):c.861C>T (p.Tyr287=) rs200877272
NM_014363.6(SACS):c.8693G>A (p.Arg2898His) rs201977288
NM_014363.6(SACS):c.8755G>T (p.Ala2919Ser) rs886050079
NM_014363.6(SACS):c.8768T>C (p.Val2923Ala)
NM_014363.6(SACS):c.8799T>C (p.Tyr2933=) rs779302353
NM_014363.6(SACS):c.8802C>T (p.Phe2934=)
NM_014363.6(SACS):c.8853T>G (p.Val2951=)
NM_014363.6(SACS):c.8858A>C (p.Lys2953Thr)
NM_014363.6(SACS):c.8948A>G (p.Asn2983Ser) rs200106708
NM_014363.6(SACS):c.8956C>G (p.His2986Asp) rs751888795
NM_014363.6(SACS):c.8958C>T (p.His2986=) rs758029668
NM_014363.6(SACS):c.8972G>A (p.Arg2991His) rs192610957
NM_014363.6(SACS):c.8990G>A (p.Arg2997Gln) rs139670073
NM_014363.6(SACS):c.9031A>G (p.Ile3011Val) rs377657177
NM_014363.6(SACS):c.9232A>G (p.Asn3078Asp)
NM_014363.6(SACS):c.9283C>G (p.Pro3095Ala)
NM_014363.6(SACS):c.9356GTC[1] (p.Arg3120del) rs1388341388
NM_014363.6(SACS):c.9359G>T (p.Arg3120Leu) rs569955570
NM_014363.6(SACS):c.944A>G (p.Asp315Gly) rs771115225
NM_014363.6(SACS):c.9523ACA[1] (p.Thr3176del) rs1161557781
NM_014363.6(SACS):c.954A>G (p.Leu318=) rs147412202
NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys) rs143557803
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu) rs137905181
NM_014363.6(SACS):c.9572C>T (p.Thr3191Ile)
NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys) rs776143384
NM_014363.6(SACS):c.9723G>C (p.Glu3241Asp) rs772595501
NM_014363.6(SACS):c.972C>A (p.Asp324Glu) rs546652936
NM_014363.6(SACS):c.973G>A (p.Gly325Arg) rs144303334
NM_014363.6(SACS):c.9774AGA[1] (p.Glu3259del) rs768958169
NM_014363.6(SACS):c.9779A>G (p.Asp3260Gly)
NM_014363.6(SACS):c.9852A>G (p.Thr3284=) rs147506904
NM_014363.6(SACS):c.9887C>T (p.Pro3296Leu) rs779195622
NM_014363.6(SACS):c.9893_9895del (p.Gly3298del) rs1293576848
NM_014363.6(SACS):c.9898_9900del (p.Val3300del) rs762506287
NM_014363.6(SACS):c.9903G>T (p.Leu3301=)
NM_014363.6(SACS):c.99T>C (p.Asp33=) rs775206528

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