ClinVar Miner

List of variants in gene SACS reported as likely pathogenic for Charlevoix-Saguenay spastic ataxia

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 464
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn) rs372359781 0.00011
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser) rs371019314 0.00006
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) rs202199411 0.00003
NM_014363.6(SACS):c.1A>G (p.Met1Val) rs771943685 0.00002
NM_014363.6(SACS):c.2957T>A (p.Leu986Ter) rs766457071 0.00002
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter) rs750732115 0.00002
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter) rs1057517250 0.00001
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter) rs780247476 0.00001
NM_014363.6(SACS):c.11624G>A (p.Arg3875His) rs863224916 0.00001
NM_014363.6(SACS):c.1189_1190del (p.Ser397fs) rs1057516625 0.00001
NM_014363.6(SACS):c.1201C>T (p.Arg401Ter) rs769212398 0.00001
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter) rs762947018 0.00001
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu) rs1440541889 0.00001
NM_014363.6(SACS):c.1869del (p.Arg624fs) rs1006060877 0.00001
NM_014363.6(SACS):c.3066del (p.Asn1025fs) rs1057516767 0.00001
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe) rs139805032 0.00001
NM_014363.6(SACS):c.3745C>T (p.Gln1249Ter) rs1027429746 0.00001
NM_014363.6(SACS):c.434C>G (p.Ser145Ter) rs994374354 0.00001
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920 0.00001
NM_014363.6(SACS):c.5122del (p.Ala1708fs) rs1485885260 0.00001
NM_014363.6(SACS):c.5582G>A (p.Trp1861Ter) rs946368716 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.623G>T (p.Ser208Ile) rs911764681 0.00001
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter) rs145766983 0.00001
NM_014363.6(SACS):c.8108G>A (p.Arg2703His) rs750181262 0.00001
NM_014363.6(SACS):c.8132C>T (p.Ser2711Leu) rs1213203489 0.00001
NM_014363.6(SACS):c.814C>T (p.Arg272Cys) rs374128662 0.00001
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter) rs886041949 0.00001
NM_014363.5(SACS):c.[11624G>A];[7276C>T]
NM_014363.6(SACS):c.10024_10025del (p.Ser3342fs) rs1555250395
NM_014363.6(SACS):c.10050del (p.His3351fs) rs1555250383
NM_014363.6(SACS):c.10055_10056del (p.Thr3352fs)
NM_014363.6(SACS):c.10069_10070del (p.Ser3357fs)
NM_014363.6(SACS):c.10087A>T (p.Lys3363Ter) rs1555250359
NM_014363.6(SACS):c.10090del (p.Ala3364fs) rs1057517383
NM_014363.6(SACS):c.10103_10104insTATAGATT (p.Met3368fs) rs2137577962
NM_014363.6(SACS):c.10222_10223del (p.Lys3408fs)
NM_014363.6(SACS):c.10379_10383del (p.Lys3460fs) rs1555250255
NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs) rs786204416
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.10536_10537del (p.Glu3512fs)
NM_014363.6(SACS):c.10536del (p.Ile3513fs) rs1555250183
NM_014363.6(SACS):c.10546C>T (p.Gln3516Ter) rs1593123432
NM_014363.6(SACS):c.10574delinsAATA (p.Leu3525Ter)
NM_014363.6(SACS):c.10645G>T (p.Glu3549Ter)
NM_014363.6(SACS):c.10651dup (p.Met3551fs)
NM_014363.6(SACS):c.10686_10689del (p.Phe3562fs) rs779338945
NM_014363.6(SACS):c.10804C>T (p.Gln3602Ter) rs1057517002
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.10900C>T (p.Gln3634Ter)
NM_014363.6(SACS):c.10916del (p.Leu3639fs)
NM_014363.6(SACS):c.10939G>T (p.Glu3647Ter) rs1156566314
NM_014363.6(SACS):c.10944_10947dup (p.Leu3650fs)
NM_014363.6(SACS):c.10993_11002dup (p.Pro3668fs) rs1555250022
NM_014363.6(SACS):c.11012_11013del (p.Gln3671fs)
NM_014363.6(SACS):c.11039_11040insTA (p.Phe3682fs) rs1555250016
NM_014363.6(SACS):c.11042dup (p.Phe3682fs) rs756597098
NM_014363.6(SACS):c.1105_1106del (p.Thr369fs)
NM_014363.6(SACS):c.11081dup (p.Cys3694fs) rs1057516856
NM_014363.6(SACS):c.11092C>T (p.Gln3698Ter) rs1883571494
NM_014363.6(SACS):c.11109del (p.Cys3704fs) rs2137569412
NM_014363.6(SACS):c.11136del (p.Pro3713_Leu3714insTer) rs2137569225
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.11191del (p.Glu3731fs)
NM_014363.6(SACS):c.11247_11250del (p.Asn3750fs) rs753205260
NM_014363.6(SACS):c.11261del (p.Asn3754fs)
NM_014363.6(SACS):c.1126_1127del (p.Asn376fs)
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet)
NM_014363.6(SACS):c.11282del (p.Leu3761fs) rs2137567996
NM_014363.6(SACS):c.11286_11287del (p.Asp3762fs)
NM_014363.6(SACS):c.11302del (p.Thr3768fs)
NM_014363.6(SACS):c.11339T>C (p.Leu3780Pro)
NM_014363.6(SACS):c.11361dup (p.Arg3788fs)
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.1139_1143del (p.Glu380fs)
NM_014363.6(SACS):c.11406_11409del (p.Trp3803fs)
NM_014363.6(SACS):c.11428G>T (p.Glu3810Ter)
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.11627_11628del (p.Thr3876fs) rs1555249826
NM_014363.6(SACS):c.1162C>T (p.Gln388Ter)
NM_014363.6(SACS):c.11713del (p.Ala3906fs) rs1555249797
NM_014363.6(SACS):c.11724C>G (p.Tyr3908Ter) rs745740932
NM_014363.6(SACS):c.11731del (p.Ser3911fs) rs1057517232
NM_014363.6(SACS):c.11772dup (p.Asp3925Ter) rs1555249789
NM_014363.6(SACS):c.1178T>A (p.Leu393Ter)
NM_014363.6(SACS):c.11877dup (p.Lys3960Ter) rs1555249766
NM_014363.6(SACS):c.11914C>T (p.Arg3972Ter) rs781491486
NM_014363.6(SACS):c.11935G>T (p.Glu3979Ter) rs1555249745
NM_014363.6(SACS):c.11946del (p.Asp3983fs)
NM_014363.6(SACS):c.12011_12019del (p.Leu4004_Leu4006del) rs2137561854
NM_014363.6(SACS):c.12054del (p.Ile4018_Met4019insTer) rs1555249695
NM_014363.6(SACS):c.12147C>A (p.Cys4049Ter)
NM_014363.6(SACS):c.12150del (p.Phe4050fs) rs1555249662
NM_014363.6(SACS):c.12177del (p.Gly4061fs)
NM_014363.6(SACS):c.12218_12219del (p.Phe4073fs) rs1555249648
NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter) rs141315518
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs) rs1057516365
NM_014363.6(SACS):c.1229T>A (p.Leu410Ter)
NM_014363.6(SACS):c.12323C>G (p.Ser4108Ter) rs1555249633
NM_014363.6(SACS):c.12373G>T (p.Gly4125Ter)
NM_014363.6(SACS):c.12378C>A (p.Cys4126Ter)
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.12454G>T (p.Glu4152Ter)
NM_014363.6(SACS):c.12471dup (p.Thr4158fs)
NM_014363.6(SACS):c.12523_12541del (p.Val4175fs)
NM_014363.6(SACS):c.12540del (p.Glu4180fs) rs1057516347
NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter) rs1555249555
NM_014363.6(SACS):c.12630_12634del (p.Glu4211fs)
NM_014363.6(SACS):c.12637_12638del (p.Glu4213fs)
NM_014363.6(SACS):c.12707_12708del (p.Ile4236fs)
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.12779del (p.Ser4260fs) rs1555249460
NM_014363.6(SACS):c.12795_12798del (p.Thr4266fs)
NM_014363.6(SACS):c.12835_12836del (p.Leu4279fs) rs1555249425
NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs) rs786204628
NM_014363.6(SACS):c.12860del (p.Lys4287fs)
NM_014363.6(SACS):c.12890del (p.Lys4297fs)
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs) rs1057517294
NM_014363.6(SACS):c.12980del (p.Lys4327fs) rs1555249371
NM_014363.6(SACS):c.13056del (p.Phe4352fs)
NM_014363.6(SACS):c.13112dup (p.Asn4371fs)
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.13252_13253del (p.Glu4418fs) rs1883405453
NM_014363.6(SACS):c.13276C>T (p.Gln4426Ter) rs1555249276
NM_014363.6(SACS):c.13283dup (p.Tyr4428Ter) rs1057517123
NM_014363.6(SACS):c.13284C>A (p.Tyr4428Ter) rs753277514
NM_014363.6(SACS):c.13304del (p.Pro4435fs)
NM_014363.6(SACS):c.13350G>A (p.Trp4450Ter)
NM_014363.6(SACS):c.13352T>C (p.Leu4451Pro)
NM_014363.6(SACS):c.13354dup (p.Arg4452fs)
NM_014363.6(SACS):c.13388dup (p.Asn4463fs)
NM_014363.6(SACS):c.13405G>C (p.Ala4469Pro) rs745961541
NM_014363.6(SACS):c.13433dup (p.Tyr4478Ter)
NM_014363.6(SACS):c.13543C>T (p.Gln4515Ter)
NM_014363.6(SACS):c.13614C>A (p.Tyr4538Ter) rs927804920
NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser) rs1555249106
NM_014363.6(SACS):c.13622dup (p.Leu4541fs)
NM_014363.6(SACS):c.13658C>T (p.Thr4553Ile)
NM_014363.6(SACS):c.1379_1395delinsG (p.Leu460fs)
NM_014363.6(SACS):c.1415_1421del (p.Asp472fs)
NM_014363.6(SACS):c.1437G>A (p.Trp479Ter)
NM_014363.6(SACS):c.1455G>A (p.Trp485Ter)
NM_014363.6(SACS):c.1535C>G (p.Ser512Ter)
NM_014363.6(SACS):c.1569_1570delinsCTGTCTCTTATACACA (p.Phe524fs)
NM_014363.6(SACS):c.1596T>A (p.Tyr532Ter) rs2137720760
NM_014363.6(SACS):c.1636C>T (p.Gln546Ter)
NM_014363.6(SACS):c.1681del (p.Ala560_Val561insTer) rs1057516543
NM_014363.6(SACS):c.1716_1717del (p.Glu573fs)
NM_014363.6(SACS):c.172-2A>G
NM_014363.6(SACS):c.1807A>T (p.Lys603Ter)
NM_014363.6(SACS):c.1814C>T (p.Pro605Leu) rs2137718533
NM_014363.6(SACS):c.1839_1840insGCGTCACCTTC (p.Leu614fs)
NM_014363.6(SACS):c.1894C>T (p.Arg632Trp)
NM_014363.6(SACS):c.1929T>A (p.Cys643Ter)
NM_014363.6(SACS):c.192_193delinsA (p.Gly65fs)
NM_014363.6(SACS):c.1965_1966del (p.Leu655_Ser656insTer)
NM_014363.6(SACS):c.1968_1969del (p.Asp657fs)
NM_014363.6(SACS):c.2076del (p.Ser693fs) rs1057516224
NM_014363.6(SACS):c.2167_2170del (p.Glu723fs)
NM_014363.6(SACS):c.2176C>T (p.Gln726Ter)
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014363.6(SACS):c.2185+1G>T
NM_014363.6(SACS):c.2186-2A>G rs1057516554
NM_014363.6(SACS):c.2189_2190delinsT (p.Arg730fs)
NM_014363.6(SACS):c.2224C>T (p.Arg742Ter) rs1057517285
NM_014363.6(SACS):c.2229del (p.Phe743fs)
NM_014363.6(SACS):c.2287C>T (p.Gln763Ter) rs1555252953
NM_014363.6(SACS):c.2291G>A (p.Trp764Ter)
NM_014363.6(SACS):c.2329dup (p.Ser777fs) rs1555252944
NM_014363.6(SACS):c.2330C>A (p.Ser777Ter) rs1057517437
NM_014363.6(SACS):c.2354dup (p.Asn785fs)
NM_014363.6(SACS):c.2396_2399dup (p.Met800fs)
NM_014363.6(SACS):c.239C>G (p.Ser80Ter)
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.2451_2452insT (p.Ile818fs) rs1555252926
NM_014363.6(SACS):c.2503C>T (p.Gln835Ter)
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.257del (p.Gly86fs)
NM_014363.6(SACS):c.2620del (p.Ser874fs)
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.2699_2700del (p.Lys900fs) rs1167474602
NM_014363.6(SACS):c.2755del (p.Arg919fs) rs2137641201
NM_014363.6(SACS):c.2829dup (p.Leu944fs) rs1869162207
NM_014363.6(SACS):c.2850dup (p.His951fs)
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.2886_2887del (p.Ser963fs) rs1326359185
NM_014363.6(SACS):c.2913_2914dup (p.Glu972fs) rs1057517034
NM_014363.6(SACS):c.2987T>G (p.Leu996Ter) rs1450257625
NM_014363.6(SACS):c.2T>C (p.Met1Thr) rs1417057515
NM_014363.6(SACS):c.3094del (p.Glu1032fs)
NM_014363.6(SACS):c.3130C>T (p.Gln1044Ter)
NM_014363.6(SACS):c.3159_3160del (p.Leu1053_Phe1054insTer) rs2137637877
NM_014363.6(SACS):c.3195_3196del (p.Phe1065fs) rs1057516551
NM_014363.6(SACS):c.3218dup (p.Pro1075fs)
NM_014363.6(SACS):c.3328dup (p.Ile1110fs) rs770866403
NM_014363.6(SACS):c.3356del (p.Pro1119fs) rs1057517039
NM_014363.6(SACS):c.3427C>T (p.Gln1143Ter) rs144267558
NM_014363.6(SACS):c.343A>T (p.Lys115Ter)
NM_014363.6(SACS):c.3457A>T (p.Lys1153Ter) rs1555252634
NM_014363.6(SACS):c.3484G>T (p.Glu1162Ter) rs1246013998
NM_014363.6(SACS):c.351_354del (p.Leu117fs)
NM_014363.6(SACS):c.3523_3527del (p.Gly1175fs) rs1555252623
NM_014363.6(SACS):c.3556dup (p.Met1186fs) rs1555252611
NM_014363.6(SACS):c.3557del (p.Met1186fs)
NM_014363.6(SACS):c.3589T>C (p.Ser1197Pro) rs727503785
NM_014363.6(SACS):c.3633del (p.Ala1212fs) rs1555252587
NM_014363.6(SACS):c.3674T>G (p.Leu1225Ter) rs959856535
NM_014363.6(SACS):c.3679delinsTA (p.His1227Ter)
NM_014363.6(SACS):c.3684dup (p.Lys1229Ter)
NM_014363.6(SACS):c.382_383del (p.Glu128fs) rs757179309
NM_014363.6(SACS):c.3831_3832dup (p.Val1278fs) rs1555252545
NM_014363.6(SACS):c.3836G>A (p.Trp1279Ter) rs756963289
NM_014363.6(SACS):c.388A>T (p.Lys130Ter)
NM_014363.6(SACS):c.3901C>T (p.Gln1301Ter) rs1555252531
NM_014363.6(SACS):c.3946C>T (p.Gln1316Ter)
NM_014363.6(SACS):c.3978_3982del (p.Glu1326fs) rs1555252518
NM_014363.6(SACS):c.4039del (p.Leu1347fs) rs1057516222
NM_014363.6(SACS):c.4095G>A (p.Trp1365Ter) rs1057516779
NM_014363.6(SACS):c.4145dup (p.His1382fs)
NM_014363.6(SACS):c.4168del (p.Ile1391fs) rs1555252465
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.4298G>A (p.Trp1433Ter) rs1057516930
NM_014363.6(SACS):c.4299G>A (p.Trp1433Ter) rs768209419
NM_014363.6(SACS):c.4385dup (p.Arg1463fs) rs1555252388
NM_014363.6(SACS):c.4424C>A (p.Ser1475Ter)
NM_014363.6(SACS):c.442_443del (p.Met148fs)
NM_014363.6(SACS):c.4438G>T (p.Glu1480Ter)
NM_014363.6(SACS):c.4465_4471del (p.Asn1489fs) rs1057516294
NM_014363.6(SACS):c.4495dup (p.Met1499fs) rs1555252359
NM_014363.6(SACS):c.4521_4522del (p.Asn1508fs)
NM_014363.6(SACS):c.4565_4568del (p.Leu1522fs) rs1555252349
NM_014363.6(SACS):c.4569G>A (p.Trp1523Ter)
NM_014363.6(SACS):c.457+1del
NM_014363.6(SACS):c.4593dup (p.Asp1532fs) rs780197970
NM_014363.6(SACS):c.4605del (p.Phe1535fs)
NM_014363.6(SACS):c.466_469del (p.Leu156fs)
NM_014363.6(SACS):c.4684del (p.Ser1562fs) rs1275667662
NM_014363.6(SACS):c.468_469insG (p.Tyr157fs) rs1057516820
NM_014363.6(SACS):c.470_471del (p.Tyr157fs) rs1444216187
NM_014363.6(SACS):c.4716del (p.Ile1572_Met1573insTer)
NM_014363.6(SACS):c.4723C>T (p.Arg1575Trp)
NM_014363.6(SACS):c.4730dup (p.Met1578fs)
NM_014363.6(SACS):c.4744G>C (p.Asp1582His)
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.4783_4787del (p.Lys1595fs)
NM_014363.6(SACS):c.4811G>A (p.Trp1604Ter)
NM_014363.6(SACS):c.4847del (p.Asn1616fs)
NM_014363.6(SACS):c.4877_4880del (p.Gly1626fs) rs757872635
NM_014363.6(SACS):c.4884del (p.Gln1628fs)
NM_014363.6(SACS):c.4894_4897del (p.Leu1631_Thr1632insTer) rs1057516580
NM_014363.6(SACS):c.4934G>C (p.Arg1645Pro)
NM_014363.6(SACS):c.4954C>T (p.Gln1652Ter)
NM_014363.6(SACS):c.4957G>T (p.Glu1653Ter)
NM_014363.6(SACS):c.497del (p.Pro166fs)
NM_014363.6(SACS):c.499G>T (p.Glu167Ter)
NM_014363.6(SACS):c.5008_5010delinsGTAGATGAATATCTACAATTGTGGATTGTATTTAG (p.Tyr1670fs)
NM_014363.6(SACS):c.5010T>G (p.Tyr1670Ter) rs1459899547
NM_014363.6(SACS):c.5037_5038del (p.Cys1679fs) rs1868917066
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.5195del (p.Val1731_Leu1732insTer)
NM_014363.6(SACS):c.520G>T (p.Glu174Ter) rs2137742889
NM_014363.6(SACS):c.5238dup (p.Lys1747Ter) rs1555252148
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.5346dup (p.Arg1783Ter)
NM_014363.6(SACS):c.5379del (p.Phe1793fs) rs1057517297
NM_014363.6(SACS):c.5402C>G (p.Ser1801Ter)
NM_014363.6(SACS):c.5405_5408del (p.Lys1802fs)
NM_014363.6(SACS):c.5414C>G (p.Ser1805Ter) rs1555252113
NM_014363.6(SACS):c.542del (p.Lys181fs)
NM_014363.6(SACS):c.5440_5449del (p.Glu1814fs) rs1566067485
NM_014363.6(SACS):c.5468dup (p.Cys1823fs)
NM_014363.6(SACS):c.5469C>A (p.Cys1823Ter) rs1057517172
NM_014363.6(SACS):c.5492del (p.Lys1831fs) rs1868862742
NM_014363.6(SACS):c.5515A>T (p.Arg1839Ter)
NM_014363.6(SACS):c.554_555del (p.Leu185fs)
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.5627T>A (p.Leu1876Ter)
NM_014363.6(SACS):c.563G>A (p.Gly188Glu)
NM_014363.6(SACS):c.563_564del (p.Gly188fs)
NM_014363.6(SACS):c.5692G>T (p.Glu1898Ter) rs2137616679
NM_014363.6(SACS):c.5707_5708del (p.Asp1903fs) rs1593129673
NM_014363.6(SACS):c.5719del (p.Arg1907fs) rs1555252055
NM_014363.6(SACS):c.5744_5745del (p.His1915fs) rs1057517138
NM_014363.6(SACS):c.5764_5767del (p.Leu1922fs) rs759166250
NM_014363.6(SACS):c.5784dup (p.Arg1929fs) rs1057517099
NM_014363.6(SACS):c.579del (p.Phe194fs)
NM_014363.6(SACS):c.5809dup (p.Leu1937fs)
NM_014363.6(SACS):c.5919del (p.Glu1974fs) rs1555251990
NM_014363.6(SACS):c.5972dup (p.Arg1992fs) rs2137613912
NM_014363.6(SACS):c.5990_5991del (p.Ser1997fs) rs1555251963
NM_014363.6(SACS):c.6001dup (p.Arg2001fs) rs1555251960
NM_014363.6(SACS):c.604+1G>A rs1555254734
NM_014363.6(SACS):c.604+1_604+4del
NM_014363.6(SACS):c.6045_6049del (p.Tyr2015_Lys2017delinsTer)
NM_014363.6(SACS):c.605-1G>A rs1555254489
NM_014363.6(SACS):c.6052A>T (p.Lys2018Ter) rs1555251944
NM_014363.6(SACS):c.6068del (p.Asn2023fs) rs1555251935
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.6186dup (p.Pro2063fs) rs2137611917
NM_014363.6(SACS):c.6221del (p.Asp2074fs) rs1057517366
NM_014363.6(SACS):c.622_640del (p.Ser208fs)
NM_014363.6(SACS):c.6282del (p.Thr2095fs) rs1555251853
NM_014363.6(SACS):c.6290del (p.Cys2097fs) rs1868755540
NM_014363.6(SACS):c.6300_6301delinsC (p.Ser2101fs) rs1555251840
NM_014363.6(SACS):c.6320del (p.Leu2107fs) rs1057516295
NM_014363.6(SACS):c.6353_6356del (p.Gly2118fs) rs1555251818
NM_014363.6(SACS):c.6366del (p.Lys2122fs)
NM_014363.6(SACS):c.6409C>T (p.Gln2137Ter) rs201690040
NM_014363.6(SACS):c.6448_6452del (p.Gln2150fs) rs1057516635
NM_014363.6(SACS):c.6538dup (p.Ala2180fs)
NM_014363.6(SACS):c.654del (p.Gln219fs)
NM_014363.6(SACS):c.6623del (p.Ala2208fs) rs1181477970
NM_014363.6(SACS):c.6634_6638del (p.Thr2212fs)
NM_014363.6(SACS):c.6663del (p.Lys2221fs) rs1555251699
NM_014363.6(SACS):c.6757dup (p.Ile2253fs) rs1057516932
NM_014363.6(SACS):c.6767_6794del (p.Leu2256fs) rs2137606577
NM_014363.6(SACS):c.6804del (p.Phe2268fs) rs1057517301
NM_014363.6(SACS):c.6866_6867del (p.Thr2289fs)
NM_014363.6(SACS):c.6919G>T (p.Gly2307Ter) rs1555251615
NM_014363.6(SACS):c.6999dup (p.Lys2334Ter)
NM_014363.6(SACS):c.699del (p.Asp235fs) rs1415870785
NM_014363.6(SACS):c.701_702del (p.Lys234fs)
NM_014363.6(SACS):c.7080_7084del (p.His2362fs) rs1294102415
NM_014363.6(SACS):c.708del (p.Asp236fs)
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.7162_7163del (p.Thr2388fs) rs1555251539
NM_014363.6(SACS):c.7221_7224dup (p.Gln2409Ter) rs1555251514
NM_014363.6(SACS):c.7252G>T (p.Glu2418Ter) rs2137602382
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter) rs786204750
NM_014363.6(SACS):c.7317_7321del (p.Lys2440fs)
NM_014363.6(SACS):c.7366del (p.Thr2456fs)
NM_014363.6(SACS):c.7394C>A (p.Ser2465Ter) rs747676277
NM_014363.6(SACS):c.7418_7419delinsTTT (p.Trp2473fs) rs1555251428
NM_014363.6(SACS):c.742_743del (p.Ala248fs)
NM_014363.6(SACS):c.7436_7443dup (p.Lys2482delinsProLeuTer) rs1555251421
NM_014363.6(SACS):c.7494_7504del (p.Val2499fs) rs1057517451
NM_014363.6(SACS):c.7499dup (p.Arg2502fs)
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.7576_7579del (p.Glu2526fs) rs2137599071
NM_014363.6(SACS):c.7634del (p.Met2545fs)
NM_014363.6(SACS):c.7788del (p.Phe2596fs) rs1057516959
NM_014363.6(SACS):c.7820_7821del (p.Leu2607fs)
NM_014363.6(SACS):c.7844del (p.Asn2615fs) rs758572409
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.7962T>A (p.Tyr2654Ter)
NM_014363.6(SACS):c.7968del (p.Ala2658fs)
NM_014363.6(SACS):c.7991G>T (p.Gly2664Val) rs1060499656
NM_014363.6(SACS):c.8009del (p.Leu2670fs) rs1555251254
NM_014363.6(SACS):c.8009dup (p.Leu2670fs)
NM_014363.6(SACS):c.8029C>T (p.Gln2677Ter) rs1555251241
NM_014363.6(SACS):c.8070del (p.Phe2690fs)
NM_014363.6(SACS):c.8071A>T (p.Lys2691Ter)
NM_014363.6(SACS):c.8107C>T (p.Arg2703Cys) rs780332615
NM_014363.6(SACS):c.8148del (p.Pro2717fs)
NM_014363.6(SACS):c.815G>A (p.Arg272His) rs745907077
NM_014363.6(SACS):c.8221del (p.Asn2742fs) rs1555251151
NM_014363.6(SACS):c.8305dup (p.Ile2769fs) rs1279988199
NM_014363.6(SACS):c.832C>T (p.Gln278Ter) rs1555254439
NM_014363.6(SACS):c.8340del (p.His2781fs) rs753958013
NM_014363.6(SACS):c.8374_8375del (p.Arg2792fs)
NM_014363.6(SACS):c.8377C>T (p.Gln2793Ter) rs1240368715
NM_014363.6(SACS):c.8404_8407del (p.Ile2802fs)
NM_014363.6(SACS):c.8480C>A (p.Ser2827Ter) rs1555251015
NM_014363.6(SACS):c.8497_8500del (p.Ser2833fs) rs1555251007
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.8589dup (p.Pro2864fs) rs1555250987
NM_014363.6(SACS):c.8612dup (p.Leu2871fs) rs1057517212
NM_014363.6(SACS):c.8621_8624del (p.Ser2874fs) rs753012964
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.8765_8766del (p.Tyr2922fs)
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.8807del (p.Gly2936fs)
NM_014363.6(SACS):c.8848_8849dup (p.Val2951fs) rs797044608
NM_014363.6(SACS):c.884T>A (p.Leu295Ter)
NM_014363.6(SACS):c.8867T>A (p.Leu2956Ter) rs1057516853
NM_014363.6(SACS):c.8873del (p.Lys2958fs) rs765992922
NM_014363.6(SACS):c.8888del (p.Phe2963fs) rs1555250872
NM_014363.6(SACS):c.8917_8918del (p.Asp2973fs)
NM_014363.6(SACS):c.8921_8922insTTTA (p.Leu2974fs)
NM_014363.6(SACS):c.892_895delinsAC (p.Ser298fs)
NM_014363.6(SACS):c.896_898delinsCT (p.Phe299fs)
NM_014363.6(SACS):c.9075del (p.Phe3027fs)
NM_014363.6(SACS):c.9086del (p.Asn3029fs)
NM_014363.6(SACS):c.9088_9089dup (p.Leu3030fs) rs1057517060
NM_014363.6(SACS):c.9106C>T (p.Gln3036Ter)
NM_014363.6(SACS):c.9119del (p.Asn3040fs)
NM_014363.6(SACS):c.9148del (p.Thr3050fs)
NM_014363.6(SACS):c.9197del (p.Gly3066fs)
NM_014363.6(SACS):c.9219_9220del (p.Cys3073_Asp3074delinsTer)
NM_014363.6(SACS):c.9266del (p.Pro3089fs)
NM_014363.6(SACS):c.9305dup (p.Leu3102fs)
NM_014363.6(SACS):c.9346_9354dup (p.Lys3116_Pro3118dup) rs2137584629
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.9390_9391del (p.His3130fs) rs1057517349
NM_014363.6(SACS):c.9447del (p.Val3150fs) rs1555250653
NM_014363.6(SACS):c.9498del (p.Phe3166fs) rs1555250642
NM_014363.6(SACS):c.9561_9564del (p.Leu3187_Phe3188insTer) rs1060503431
NM_014363.6(SACS):c.9580_9587delinsC (p.Lys3195fs)
NM_014363.6(SACS):c.9590del (p.Ser3197fs)
NM_014363.6(SACS):c.9611_9615del (p.Lys3204fs)
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.9653T>G (p.Leu3218Ter) rs2137582138
NM_014363.6(SACS):c.9659_9660del (p.Ser3220fs) rs2137582027
NM_014363.6(SACS):c.9660dup (p.Val3221fs)
NM_014363.6(SACS):c.9663_9664del (p.Leu3222fs)
NM_014363.6(SACS):c.9670C>T (p.Arg3224Ter) rs751568153
NM_014363.6(SACS):c.9762del (p.Ser3254_Val3255insTer)
NM_014363.6(SACS):c.9763_9764del (p.Val3255fs) rs1555250508
NM_014363.6(SACS):c.9818_9831del (p.Asp3273fs) rs1057516464
NM_014363.6(SACS):c.9833G>A (p.Trp3278Ter)
NM_014363.6(SACS):c.9851del (p.Thr3284fs)
NM_014363.6(SACS):c.9879del (p.Val3294fs) rs2137580025
NM_014363.6(SACS):c.9956_9957del (p.Lys3319fs) rs772704931
NM_014363.6(SACS):c.998_999del (p.Val333fs)
NM_014363.6(SACS):c.[7504C>T;8132C>T]

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