ClinVar Miner

List of variants in gene SACS studied for Charlevoix-Saguenay spastic ataxia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 717
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HGVS dbSNP
NM_014363.4(SACS):c.7276C>T rs786204750
NM_014363.5(SACS):c.[11624G>A];[7276C>T]
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.*20del rs143617437
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.-13A>G rs17078720
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.10024_10025del (p.Ser3342fs) rs1555250395
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.10050del (p.His3351fs) rs1555250383
NM_014363.6(SACS):c.10064T>G (p.Ile3355Arg) rs372488932
NM_014363.6(SACS):c.10076C>T (p.Thr3359Ile)
NM_014363.6(SACS):c.10087A>T (p.Lys3363Ter) rs1555250359
NM_014363.6(SACS):c.10090del (p.Ala3364fs) rs1057517383
NM_014363.6(SACS):c.10096C>T (p.His3366Tyr)
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala) rs17078605
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter) rs1057517250
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.10338G>A (p.Gln3446=) rs2737701
NM_014363.6(SACS):c.1033C>T (p.Arg345Trp) rs776156836
NM_014363.6(SACS):c.10379_10383del (p.Lys3460fs) rs1555250255
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.10466_10467del (p.Ser3489fs) rs786204416
NM_014363.6(SACS):c.10482A>G (p.Leu3494=) rs149643158
NM_014363.6(SACS):c.10485G>A (p.Glu3495=)
NM_014363.6(SACS):c.10497C>A (p.Tyr3499Ter) rs755186798
NM_014363.6(SACS):c.10501_10505del (p.Leu3500_Lys3501insTer) rs1555250191
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.10536del (p.Ile3513fs) rs1555250183
NM_014363.6(SACS):c.10546C>T (p.Gln3516Ter) rs1593123432
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.10634_10635del (p.Val3545fs)
NM_014363.6(SACS):c.10644del (p.Phe3548fs) rs1555250160
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.10686_10689del (p.Phe3562fs) rs779338945
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.10804C>T (p.Gln3602Ter) rs1057517002
NM_014363.6(SACS):c.10813A>T (p.Lys3605Ter) rs1360298758
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.10822_10823del (p.Ser3608fs) rs1555250082
NM_014363.6(SACS):c.10854del (p.Glu3619fs) rs1057516773
NM_014363.6(SACS):c.1085del (p.Lys362fs) rs1057517242
NM_014363.6(SACS):c.10864C>T (p.Gln3622Ter) rs1057516578
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met) rs35256065
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter) rs780247476
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.10932dup (p.Leu3645fs)
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.10993_11002dup (p.Pro3668fs) rs1555250022
NM_014363.6(SACS):c.11003C>G (p.Pro3668Arg)
NM_014363.6(SACS):c.11027C>T (p.Thr3676Ile)
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala) rs17078601
NM_014363.6(SACS):c.11039_11040insTA (p.Phe3682fs) rs1555250016
NM_014363.6(SACS):c.11042dup (p.Phe3682fs) rs756597098
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln) rs148925505
NM_014363.6(SACS):c.11081dup (p.Cys3694fs) rs1057516856
NM_014363.6(SACS):c.11101T>C (p.Trp3701Arg) rs773588375
NM_014363.6(SACS):c.11149_11150insT (p.Lys3717fs) rs1555249977
NM_014363.6(SACS):c.11179C>T (p.Gln3727Ter) rs1555249966
NM_014363.6(SACS):c.11185C>T (p.Gln3729Ter) rs1057516398
NM_014363.6(SACS):c.11215G>A (p.Val3739Ile) rs1027336196
NM_014363.6(SACS):c.11247_11250del (p.Asn3750fs) rs753205260
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs) rs1400601705
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.11373dup (p.Arg3792fs) rs1555249904
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter) rs565203731
NM_014363.6(SACS):c.1137dup (p.Glu380fs) rs1057516987
NM_014363.6(SACS):c.11409G>T (p.Trp3803Cys) rs886050075
NM_014363.6(SACS):c.11428dup (p.Glu3810fs) rs1555249894
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.1152T>G (p.Thr384=) rs185643322
NM_014363.6(SACS):c.11576G>A (p.Arg3859His)
NM_014363.6(SACS):c.11627_11628del (p.Thr3876fs) rs1555249826
NM_014363.6(SACS):c.11637_11638del (p.Arg3879fs) rs1593121924
NM_014363.6(SACS):c.11688G>A (p.Arg3896=) rs116791509
NM_014363.6(SACS):c.11713del (p.Ala3906fs) rs1555249797
NM_014363.6(SACS):c.11731del (p.Ser3911fs) rs1057517232
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.11772dup (p.Asp3925Ter) rs1555249789
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.11877dup (p.Lys3960Ter) rs1555249766
NM_014363.6(SACS):c.11884A>T (p.Ile3962Leu) rs746953932
NM_014363.6(SACS):c.1189_1190del (p.Ser397fs) rs1057516625
NM_014363.6(SACS):c.11927G>A (p.Ser3976Asn)
NM_014363.6(SACS):c.11928T>C (p.Ser3976=) rs145680118
NM_014363.6(SACS):c.11935G>T (p.Glu3979Ter) rs1555249745
NM_014363.6(SACS):c.11941C>T (p.Gln3981Ter) rs1593121484
NM_014363.6(SACS):c.12014T>C (p.Leu4005Pro)
NM_014363.6(SACS):c.1201C>T (p.Arg401Ter)
NM_014363.6(SACS):c.12020C>T (p.Ser4007Phe) rs1314135259
NM_014363.6(SACS):c.12035T>C (p.Ile4012Thr)
NM_014363.6(SACS):c.12054del (p.Ile4018_Met4019insTer) rs1555249695
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.12150del (p.Phe4050fs) rs1555249662
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) rs281865120
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.12218_12219del (p.Phe4073fs) rs1555249648
NM_014363.6(SACS):c.12220G>C (p.Ala4074Pro) rs137853016
NM_014363.6(SACS):c.12232C>A (p.Arg4078=) rs141315518
NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter) 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.12268C>A (p.His4090Asn)
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs) rs1057516365
NM_014363.6(SACS):c.12304T>C (p.Leu4102=) rs2737699
NM_014363.6(SACS):c.12323C>G (p.Ser4108Ter) rs1555249633
NM_014363.6(SACS):c.12407_12411del (p.Leu4136fs) rs1555249607
NM_014363.6(SACS):c.12434_12435del (p.Ser4145fs) rs1555249599
NM_014363.6(SACS):c.12438G>A (p.Ser4146=) rs150959878
NM_014363.6(SACS):c.12538G>T (p.Glu4180Ter)
NM_014363.6(SACS):c.12540del (p.Glu4180fs) rs1057516347
NM_014363.6(SACS):c.12597A>G (p.Pro4199=) rs112630127
NM_014363.6(SACS):c.1259T>C (p.Ile420Thr)
NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter) rs1555249555
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.12766del (p.Asp4256fs) rs1555249479
NM_014363.6(SACS):c.1276_1277dup (p.Leu426fs) rs1057516406
NM_014363.6(SACS):c.12775_12777del (p.Pro4259del) rs1555249469
NM_014363.6(SACS):c.12779del (p.Ser4260fs) rs1555249460
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_12836del (p.Leu4279fs) rs1555249425
NM_014363.6(SACS):c.12835_12837del (p.Leu4279del) rs1555249424
NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs) rs786204628
NM_014363.6(SACS):c.12905C>A (p.Ser4302Tyr) rs778808568
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs) rs1057517294
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter) rs762947018
NM_014363.6(SACS):c.1297G>C (p.Ala433Pro)
NM_014363.6(SACS):c.12980del (p.Lys4327fs) rs1555249371
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.13120_13121del (p.Arg4374fs) rs1555249338
NM_014363.6(SACS):c.13132C>T (p.Arg4378Ter) rs747868017
NM_014363.6(SACS):c.13178_13185dup (p.Arg4396fs) rs1555249326
NM_014363.6(SACS):c.13272C>T (p.Ala4424=) rs567495567
NM_014363.6(SACS):c.13276C>T (p.Gln4426Ter) rs1555249276
NM_014363.6(SACS):c.13281T>A (p.Thr4427=)
NM_014363.6(SACS):c.13282T>G (p.Tyr4428Asp) rs886050071
NM_014363.6(SACS):c.13283dup (p.Tyr4428Ter) rs1057517123
NM_014363.6(SACS):c.13284C>A (p.Tyr4428Ter) rs753277514
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.13405G>C (p.Ala4469Pro) rs745961541
NM_014363.6(SACS):c.13409A>G (p.Asn4470Ser)
NM_014363.6(SACS):c.13454T>C (p.Leu4485Ser) rs1566054340
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.13527dup (p.Glu4510fs) rs797045936
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.1358del (p.Gly453fs)
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.1374A>G (p.Thr458=) rs149129638
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.1464G>A (p.Pro488=) rs375352514
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.159C>G (p.Arg53=) rs968138431
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.1656A>G (p.Leu552=) rs1536365
NM_014363.6(SACS):c.1681del (p.Ala560_Val561insTer) rs1057516543
NM_014363.6(SACS):c.169G>C (p.Glu57Gln)
NM_014363.6(SACS):c.171+13C>T rs374672041
NM_014363.6(SACS):c.171+6C>T rs3751368
NM_014363.6(SACS):c.1728C>T (p.Tyr576=) rs750748828
NM_014363.6(SACS):c.1752A>G (p.Leu584=) rs368626712
NM_014363.6(SACS):c.1762A>G (p.Lys588Glu)
NM_014363.6(SACS):c.1791A>T (p.Ser597=) rs371175405
NM_014363.6(SACS):c.1839G>A (p.Gln613=) rs35840595
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.1913G>A (p.Cys638Tyr) rs778572943
NM_014363.6(SACS):c.1919_1920del (p.His640fs) rs797045937
NM_014363.6(SACS):c.1A>G (p.Met1Val) rs771943685
NM_014363.6(SACS):c.2076del (p.Ser693fs) rs1057516224
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr) rs17325713
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.2146C>T (p.His716Tyr) rs146852400
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.2186-2A>G rs1057516554
NM_014363.6(SACS):c.2186-4A>G rs371866995
NM_014363.6(SACS):c.2224C>T (p.Arg742Ter) rs1057517285
NM_014363.6(SACS):c.2234G>A (p.Arg745His) rs143677534
NM_014363.6(SACS):c.2287C>T (p.Gln763Ter) rs1555252953
NM_014363.6(SACS):c.2322A>G (p.Pro774=)
NM_014363.6(SACS):c.2329dup (p.Ser777fs) rs1555252944
NM_014363.6(SACS):c.2330C>A (p.Ser777Ter) rs1057517437
NM_014363.6(SACS):c.2403A>G (p.Pro801=) rs758503842
NM_014363.6(SACS):c.2434C>T (p.Gln812Ter) rs1555252929
NM_014363.6(SACS):c.2438_2439del (p.Thr813fs) rs1555252928
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063
NM_014363.6(SACS):c.2451C>T (p.Leu817=) rs756595744
NM_014363.6(SACS):c.2451_2452insT (p.Ile818fs) rs1555252926
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.2533C>T (p.Gln845Ter) rs1555252876
NM_014363.6(SACS):c.2564T>G (p.Leu855Ter) rs142037771
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.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.2643G>C (p.Glu881Asp) rs200517685
NM_014363.6(SACS):c.2681C>T (p.Ser894Leu) rs201857647
NM_014363.6(SACS):c.2699_2700del (p.Lys900fs) rs1167474602
NM_014363.6(SACS):c.2733C>T (p.Thr911=) rs199702597
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.2829dup (p.Leu944fs)
NM_014363.6(SACS):c.2863A>T (p.Lys955Ter) rs1555252786
NM_014363.6(SACS):c.2870del (p.Pro957fs) rs1057516624
NM_014363.6(SACS):c.2903_2906del (p.Asp968fs) rs1259615333
NM_014363.6(SACS):c.2913_2914dup (p.Glu972fs) rs1057517034
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser) rs139993038
NM_014363.6(SACS):c.2929C>T (p.Leu977=) rs146296924
NM_014363.6(SACS):c.2938_2939del (p.Met980fs) rs1593133306
NM_014363.6(SACS):c.2957T>A (p.Leu986Ter) rs766457071
NM_014363.6(SACS):c.2983G>T (p.Val995Phe) rs142967124
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.29del (p.Pro10fs) rs1057516837
NM_014363.6(SACS):c.2T>C (p.Met1Thr) rs1417057515
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.3055A>G (p.Asn1019Asp) rs1566071225
NM_014363.6(SACS):c.3066del (p.Asn1025fs) rs1057516767
NM_014363.6(SACS):c.3070A>G (p.Lys1024Glu)
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile) rs150981983
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.3161T>C (p.Phe1054Ser) rs137853019
NM_014363.6(SACS):c.3195_3196del (p.Phe1065fs) rs1057516551
NM_014363.6(SACS):c.3281dup (p.Asn1094fs)
NM_014363.6(SACS):c.3282C>T (p.Asn1094=) rs145499245
NM_014363.6(SACS):c.3328dup (p.Ile1110fs) rs770866403
NM_014363.6(SACS):c.3345C>T (p.Val1115=) rs143287019
NM_014363.6(SACS):c.3346G>A (p.Gly1116Ser)
NM_014363.6(SACS):c.3356del (p.Pro1119fs) rs1057517039
NM_014363.6(SACS):c.3369TCT[1] (p.Leu1125del) rs1555252672
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe) rs139805032
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.3427C>T (p.Gln1143Ter) rs144267558
NM_014363.6(SACS):c.345+14C>T rs538944334
NM_014363.6(SACS):c.3457A>T (p.Lys1153Ter) rs1555252634
NM_014363.6(SACS):c.3523_3527del (p.Gly1175fs) rs1555252623
NM_014363.6(SACS):c.3545C>T (p.Ala1182Val) rs373859681
NM_014363.6(SACS):c.3556dup (p.Met1186fs) rs1555252611
NM_014363.6(SACS):c.3557T>C (p.Met1186Thr) rs886050087
NM_014363.6(SACS):c.3589T>C (p.Ser1197Pro) rs727503785
NM_014363.6(SACS):c.3615C>T (p.Ile1205=) rs886050086
NM_014363.6(SACS):c.3633del (p.Ala1212fs) rs1555252587
NM_014363.6(SACS):c.3674T>G (p.Leu1225Ter) rs959856535
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.3831_3832dup (p.Val1278fs) rs1555252545
NM_014363.6(SACS):c.3868G>T (p.Ala1290Ser) rs757939935
NM_014363.6(SACS):c.3901C>T (p.Gln1301Ter) rs1555252531
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.3978_3982del (p.Glu1326fs) rs1555252518
NM_014363.6(SACS):c.3992A>G (p.His1331Arg)
NM_014363.6(SACS):c.4015A>C (p.Ile1339Leu)
NM_014363.6(SACS):c.4033dup (p.Gln1345fs) rs606231163
NM_014363.6(SACS):c.4039del (p.Leu1347fs) rs1057516222
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611
NM_014363.6(SACS):c.4095G>A (p.Trp1365Ter) rs1057516779
NM_014363.6(SACS):c.4103G>T (p.Ser1368Ile) rs1566069517
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.4168del (p.Ile1391fs) rs1555252465
NM_014363.6(SACS):c.4173_4175del (p.Ile1391del) rs1555252463
NM_014363.6(SACS):c.4188C>T (p.His1396=) rs61754477
NM_014363.6(SACS):c.4199_4200insAACATTAATGTTTAATG (p.Tyr1400Ter) rs1555252458
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter) rs867249938
NM_014363.6(SACS):c.4233dup (p.Leu1412fs) rs1555252448
NM_014363.6(SACS):c.4234C>T (p.Leu1412Phe)
NM_014363.6(SACS):c.4255A>G (p.Ile1419Val)
NM_014363.6(SACS):c.4298G>A (p.Trp1433Ter) rs1057516930
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.4385dup (p.Arg1463fs) rs1555252388
NM_014363.6(SACS):c.4465_4471del (p.Asn1489fs) rs1057516294
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630
NM_014363.6(SACS):c.447G>A (p.Ala149=)
NM_014363.6(SACS):c.4495dup (p.Met1499fs) rs1555252359
NM_014363.6(SACS):c.4522A>C (p.Asn1508His) rs144653411
NM_014363.6(SACS):c.4565_4568del (p.Leu1522fs) rs1555252349
NM_014363.6(SACS):c.4585C>T (p.Gln1529Ter) rs1555252345
NM_014363.6(SACS):c.4593dup (p.Asp1532fs) rs780197970
NM_014363.6(SACS):c.4612A>G (p.Ile1538Val) rs544249449
NM_014363.6(SACS):c.468_469insG (p.Tyr157fs) rs1057516820
NM_014363.6(SACS):c.4718T>G (p.Met1573Arg)
NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln)
NM_014363.6(SACS):c.4724G>C (p.Arg1575Pro)
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920
NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser) rs201558584
NM_014363.6(SACS):c.4760del (p.His1587fs) rs1057516285
NM_014363.6(SACS):c.4782C>G (p.Asp1594Glu)
NM_014363.6(SACS):c.47G>T (p.Gly16Val) rs886050090
NM_014363.6(SACS):c.4835dup (p.Phe1614fs)
NM_014363.6(SACS):c.4877_4880del (p.Gly1626fs) rs757872635
NM_014363.6(SACS):c.4878C>T (p.Gly1626=) rs778664565
NM_014363.6(SACS):c.4894_4897del (p.Leu1631_Thr1632insTer) rs1057516580
NM_014363.6(SACS):c.4900G>C (p.Glu1634Gln) rs143961484
NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter)
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.4998A>G (p.Thr1666=) rs184994682
NM_014363.6(SACS):c.5010T>G (p.Tyr1670Ter) rs1459899547
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.5065_5066del (p.Ser1689fs) rs1372213267
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.5111_5113dup (p.Pro1705_Ser1706insHis) rs1555252172
NM_014363.6(SACS):c.5122del (p.Ala1708fs) rs1485885260
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter) rs1057517311
NM_014363.6(SACS):c.5143A>T (p.Lys1715Ter)
NM_014363.6(SACS):c.5149_5151del (p.Lys1717del) rs754439135
NM_014363.6(SACS):c.5151dup (p.Ser1718fs) 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.5238dup (p.Lys1747Ter) rs1555252148
NM_014363.6(SACS):c.5274C>T (p.Cys1758=) rs201982449
NM_014363.6(SACS):c.5281C>T (p.Gln1761Ter) rs1555252142
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.5379del (p.Phe1793fs) rs1057517297
NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn) rs144715822
NM_014363.6(SACS):c.5414C>G (p.Ser1805Ter) rs1555252113
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.5469C>A (p.Cys1823Ter) rs1057517172
NM_014363.6(SACS):c.5492del (p.Lys1831fs)
NM_014363.6(SACS):c.5502G>C (p.Leu1834=) rs34389000
NM_014363.6(SACS):c.5529G>C (p.Leu1843=) rs148091738
NM_014363.6(SACS):c.5583G>C (p.Trp1861Cys) rs140678034
NM_014363.6(SACS):c.5598_5599del (p.Ile1867fs) rs1555252086
NM_014363.6(SACS):c.5618_5619del (p.Tyr1873fs) rs1188844823
NM_014363.6(SACS):c.5621T>C (p.Leu1874Ser)
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter) rs761089024
NM_014363.6(SACS):c.562G>A (p.Gly188Arg) rs780184251
NM_014363.6(SACS):c.5639C>T (p.Thr1880Ile) rs1555252070
NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter) rs1485209013
NM_014363.6(SACS):c.5719del (p.Arg1907fs) rs1555252055
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.5744_5745del (p.His1915fs) rs1057517138
NM_014363.6(SACS):c.5761T>G (p.Tyr1921Asp)
NM_014363.6(SACS):c.5764_5767del (p.Leu1922fs) rs759166250
NM_014363.6(SACS):c.5770G>T (p.Val1924Leu)
NM_014363.6(SACS):c.5784dup (p.Arg1929fs) rs1057517099
NM_014363.6(SACS):c.5785C>T (p.Arg1929Trp)
NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg) rs137853017
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.5919del (p.Glu1974fs) rs1555251990
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.5990_5991del (p.Ser1997fs) rs1555251963
NM_014363.6(SACS):c.5999_6001del (p.Lys2000del) rs1555251960
NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs)
NM_014363.6(SACS):c.6001dup (p.Arg2001fs) rs1555251960
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val) rs537408260
NM_014363.6(SACS):c.604+1G>A rs1555254734
NM_014363.6(SACS):c.605-1G>A rs1555254489
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn) rs35865691
NM_014363.6(SACS):c.6052A>T (p.Lys2018Ter) rs1555251944
NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu) rs747566710
NM_014363.6(SACS):c.6068del (p.Asn2023fs) rs1555251935
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.6126C>A (p.Cys2042Ter)
NM_014363.6(SACS):c.6130C>T (p.Gln2044Ter) rs1408290451
NM_014363.6(SACS):c.6163del (p.Gln2055fs) rs1555251905
NM_014363.6(SACS):c.6172del (p.Ser2058fs) rs1214399996
NM_014363.6(SACS):c.6195T>C (p.Ile2065=) rs4143768
NM_014363.6(SACS):c.6221del (p.Asp2074fs) rs1057517366
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.6267G>A (p.Ser2089=) rs9550956
NM_014363.6(SACS):c.6282del (p.Thr2095fs) rs1555251853
NM_014363.6(SACS):c.6300_6301delinsC (p.Ser2101fs) rs1555251840
NM_014363.6(SACS):c.6320del (p.Leu2107fs) rs1057516295
NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser) rs80132141
NM_014363.6(SACS):c.6338_6341del (p.Leu2113fs) rs1555251822
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys) rs754033201
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.6409C>T (p.Gln2137Ter) rs201690040
NM_014363.6(SACS):c.6434T>A (p.Leu2145Ter) rs770490672
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.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.6650C>A (p.Pro2217Gln)
NM_014363.6(SACS):c.6663del (p.Lys2221fs) rs1555251699
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.6757dup (p.Ile2253fs) rs1057516932
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.6804del (p.Phe2268fs) rs1057517301
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.6919G>T (p.Gly2307Ter) rs1555251615
NM_014363.6(SACS):c.6941A>C (p.Asn2314Thr)
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr) rs147949881
NM_014363.6(SACS):c.696T>A (p.Asn232Lys) rs2031640
NM_014363.6(SACS):c.699del (p.Asp235fs)
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.7110C>A (p.Tyr2370Ter) rs1555251553
NM_014363.6(SACS):c.7114dup (p.Tyr2372fs) rs1057517222
NM_014363.6(SACS):c.7139del (p.Asn2380fs) rs1057516689
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys) rs61754478
NM_014363.6(SACS):c.7147C>T (p.Arg2383Cys)
NM_014363.6(SACS):c.7149C>T (p.Arg2383=) rs17078608
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.7221_7224dup (p.Gln2409Ter) rs1555251514
NM_014363.6(SACS):c.7262T>A (p.Phe2421Tyr) rs1213144547
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter) rs145766983
NM_014363.6(SACS):c.7274G>C (p.Arg2425Pro)
NM_014363.6(SACS):c.7354T>C (p.Leu2452=) rs761258047
NM_014363.6(SACS):c.736C>G (p.Gln246Glu) rs886050089
NM_014363.6(SACS):c.7376T>C (p.Met2459Thr)
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser) rs78239814
NM_014363.6(SACS):c.7394C>A (p.Ser2465Ter) rs747676277
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu)
NM_014363.6(SACS):c.7418_7419delinsTTT (p.Trp2473fs) rs1555251428
NM_014363.6(SACS):c.7436_7443dup (p.Lys2482delinsProLeuTer) rs1555251421
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.7494_7504del (p.Val2499fs) rs1057517451
NM_014363.6(SACS):c.7497C>T (p.Val2499=) rs774558627
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter) rs281865118
NM_014363.6(SACS):c.7521_7524del (p.Glu2507fs) rs1057516438
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=) rs140034972
NM_014363.6(SACS):c.7527T>G (p.Tyr2509Ter) 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.7788del (p.Phe2596fs) rs1057516959
NM_014363.6(SACS):c.7796ATG[1] (p.Asp2600del) rs1555251315
NM_014363.6(SACS):c.7812T>C (p.Ile2604=) rs1593127031
NM_014363.6(SACS):c.7817A>G (p.Asn2606Ser)
NM_014363.6(SACS):c.7833G>A (p.Thr2611=) rs1237743096
NM_014363.6(SACS):c.7844del (p.Asn2615fs) rs758572409
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.7903del (p.Cys2635fs) rs1028098148
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.7991G>T (p.Gly2664Val) rs1060499656
NM_014363.6(SACS):c.8009del (p.Leu2670fs) rs1555251254
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.8029C>T (p.Gln2677Ter) rs1555251241
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.8132C>A (p.Ser2711Ter)
NM_014363.6(SACS):c.8133G>A (p.Ser2711=) rs143386746
NM_014363.6(SACS):c.814C>T (p.Arg272Cys) rs374128662
NM_014363.6(SACS):c.815G>A (p.Arg272His) rs745907077
NM_014363.6(SACS):c.8191C>T (p.Arg2731Cys)
NM_014363.6(SACS):c.8192G>A (p.Arg2731His)
NM_014363.6(SACS):c.8221del (p.Asn2742fs) rs1555251151
NM_014363.6(SACS):c.8227del (p.His2743fs)
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val) rs186436335
NM_014363.6(SACS):c.8305dup (p.Ile2769fs) rs1279988199
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala) rs763504656
NM_014363.6(SACS):c.832C>T (p.Gln278Ter) rs1555254439
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.8344G>A (p.Ala2782Thr) rs61742502
NM_014363.6(SACS):c.8345C>T (p.Ala2782Val) rs61742500
NM_014363.6(SACS):c.8377C>T (p.Gln2793Ter) rs1240368715
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.8480C>A (p.Ser2827Ter) rs1555251015
NM_014363.6(SACS):c.8482A>G (p.Ser2828Gly) rs9552930
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.8497_8500del (p.Ser2833fs) rs1555251007
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.8542_8543del (p.Phe2848fs) rs876657721
NM_014363.6(SACS):c.8574_8577del (p.His2859fs) rs1555250991
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.8589dup (p.Pro2864fs) rs1555250987
NM_014363.6(SACS):c.8596A>G (p.Arg2866Gly)
NM_014363.6(SACS):c.8612dup (p.Leu2871fs) rs1057517212
NM_014363.6(SACS):c.861C>T (p.Tyr287=) rs200877272
NM_014363.6(SACS):c.8621_8624del (p.Ser2874fs) rs753012964
NM_014363.6(SACS):c.8693G>A (p.Arg2898His) rs201977288
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter) rs750732115
NM_014363.6(SACS):c.8727G>A (p.Trp2909Ter) rs1555250949
NM_014363.6(SACS):c.8733_8734del (p.Asn2911fs) rs1057517020
NM_014363.6(SACS):c.8755G>T (p.Ala2919Ser) rs886050079
NM_014363.6(SACS):c.8768T>C (p.Val2923Ala)
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014363.6(SACS):c.8799T>C (p.Tyr2933=) rs779302353
NM_014363.6(SACS):c.8802C>T (p.Phe2934=)
NM_014363.6(SACS):c.8844del (p.Ile2949fs) rs281865117
NM_014363.6(SACS):c.8848_8849dup (p.Val2951fs) rs797044608
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929
NM_014363.6(SACS):c.8853T>G (p.Val2951=)
NM_014363.6(SACS):c.8858A>C (p.Lys2953Thr)
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.8922A>G (p.Leu2974=) rs563864403
NM_014363.6(SACS):c.8931A>G (p.Leu2977=) rs376228714
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.9088_9089dup (p.Leu3030fs) rs1057517060
NM_014363.6(SACS):c.909A>G (p.Ala303=) rs41315020
NM_014363.6(SACS):c.914_915del (p.Thr305fs)
NM_014363.6(SACS):c.9232A>G (p.Asn3078Asp)
NM_014363.6(SACS):c.9283C>G (p.Pro3095Ala)
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter) rs886041949
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.9375_9379del (p.Asn3125fs) rs1555250684
NM_014363.6(SACS):c.9377dup (p.Leu3128fs) rs1057516875
NM_014363.6(SACS):c.9390_9391del (p.His3130fs) rs1057517349
NM_014363.6(SACS):c.9399A>G (p.Lys3133=) rs762665640
NM_014363.6(SACS):c.9447del (p.Val3150fs) rs1555250653
NM_014363.6(SACS):c.944A>G (p.Asp315Gly) rs771115225
NM_014363.6(SACS):c.9498del (p.Phe3166fs) rs1555250642
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) rs202199411
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.9561_9564del (p.Leu3187_Phe3188insTer) rs1060503431
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu) rs137905181
NM_014363.6(SACS):c.9572C>T (p.Thr3191Ile)
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.964G>T (p.Glu322Ter) rs1593145590
NM_014363.6(SACS):c.9670C>T (p.Arg3224Ter) rs751568153
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.9742T>C (p.Trp3248Arg) rs137853018
NM_014363.6(SACS):c.9763_9764del (p.Val3255fs) rs1555250508
NM_014363.6(SACS):c.9774AGA[1] (p.Glu3259del) rs768958169
NM_014363.6(SACS):c.9779A>G (p.Asp3260Gly)
NM_014363.6(SACS):c.9818_9831del (p.Asp3273fs) rs1057516464
NM_014363.6(SACS):c.9846A>G (p.Pro3282=) rs61753111
NM_014363.6(SACS):c.9852A>G (p.Thr3284=) rs147506904
NM_014363.6(SACS):c.9866C>G (p.Ser3289Ter)
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.9981T>C (p.Ala3327=) rs2737700
NM_014363.6(SACS):c.99T>C (p.Asp33=) rs775206528
NM_014363.6(SACS):c.[7504C>T;8132C>T]
SACS, 1-BP DEL, 1411T
SACS, 1-BP DEL, 31760T
SACS, 1-BP INS, 1155A
SACS, 10-BP DEL, NT32627

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