ClinVar Miner

List of variants in gene SACS reported as pathogenic

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 430
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HGVS dbSNP gnomAD frequency
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.7504C>T (p.Arg2502Ter) rs281865118 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.11707C>T (p.Arg3903Ter) rs774906736 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.12160C>T (p.Gln4054Ter) rs281865120 0.00001
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter) rs762947018 0.00001
NM_014363.6(SACS):c.13156C>T (p.Arg4386Ter) rs899469618 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.3701G>A (p.Trp1234Ter) rs1248031379 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.5143A>T (p.Lys1715Ter) rs755824618 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.7205_7206del (p.Leu2402fs) rs773182375 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.814C>T (p.Arg272Cys) rs374128662 0.00001
NM_014363.6(SACS):c.8844del (p.Ile2949fs) rs281865117 0.00001
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter) rs886041949 0.00001
NM_014363.6(SACS):c.9956_9957dup (p.Val3320fs) rs772704931 0.00001
NC_000013.10:g.(?_23903991)_(23905304_?)del
NC_000013.10:g.(?_23927914)_(23985388_?)del
NC_000013.10:g.(?_23985349)_(23985388_?)del
NM_014363.6(SACS):c.1004C>A (p.Ser335Ter) rs767435985
NM_014363.6(SACS):c.10079del (p.Ser3360fs)
NM_014363.6(SACS):c.10100_10121del (p.Tyr3367fs) rs2137577673
NM_014363.6(SACS):c.10115dup (p.Thr3373fs)
NM_014363.6(SACS):c.1014dup (p.Lys339Ter) rs2137725980
NM_014363.6(SACS):c.10379_10383del (p.Lys3460fs) rs1555250255
NM_014363.6(SACS):c.10444_10447del (p.Leu3482fs)
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.10497_10500del (p.Ile3498_Tyr3499insTer) rs2137574344
NM_014363.6(SACS):c.10543G>T (p.Glu3515Ter)
NM_014363.6(SACS):c.10546C>T (p.Gln3516Ter) rs1593123432
NM_014363.6(SACS):c.10634_10635del (p.Val3545fs) rs2137573354
NM_014363.6(SACS):c.10644del (p.Phe3548fs) rs1555250160
NM_014363.6(SACS):c.10671dup (p.Ile3558fs) rs2137573025
NM_014363.6(SACS):c.10686_10689del (p.Phe3562fs) rs779338945
NM_014363.6(SACS):c.10692del (p.Lys3565fs) rs2137572889
NM_014363.6(SACS):c.1076_1077del (p.Tyr359fs)
NM_014363.6(SACS):c.10788_10789del (p.Gln3597fs) rs2137572074
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.10822_10823del (p.Ser3608fs) rs1555250082
NM_014363.6(SACS):c.10847G>A (p.Trp3616Ter) rs1365858851
NM_014363.6(SACS):c.10855G>T (p.Glu3619Ter) rs748151842
NM_014363.6(SACS):c.10900C>T (p.Gln3634Ter)
NM_014363.6(SACS):c.10932dup (p.Leu3645fs) rs2137570842
NM_014363.6(SACS):c.10933del (p.Phe3644_Leu3645insTer) rs1566058677
NM_014363.6(SACS):c.10938_10941del (p.Lys3646fs)
NM_014363.6(SACS):c.10939G>T (p.Glu3647Ter) rs1156566314
NM_014363.6(SACS):c.10949del (p.Ser3649_Leu3650insTer)
NM_014363.6(SACS):c.10955del (p.Pro3652fs)
NM_014363.6(SACS):c.11012_11013del (p.Gln3671fs)
NM_014363.6(SACS):c.11045del (p.Phe3682fs)
NM_014363.6(SACS):c.11109del (p.Cys3704fs) rs2137569412
NM_014363.6(SACS):c.11136del (p.Pro3713_Leu3714insTer) rs2137569225
NM_014363.6(SACS):c.11157del (p.Glu3720fs)
NM_014363.6(SACS):c.11194C>T (p.Gln3732Ter)
NM_014363.6(SACS):c.1121_1122del (p.His374fs)
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.11274_11276del (p.Ile3758_Thr3759delinsMet)
NM_014363.6(SACS):c.11356del (p.Glu3786fs)
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.11451T>A (p.Tyr3817Ter)
NM_014363.6(SACS):c.11452G>T (p.Glu3818Ter)
NM_014363.6(SACS):c.11506_11521del (p.His3836fs) rs1555249878
NM_014363.6(SACS):c.11509del (p.Gln3837fs) rs2137566018
NM_014363.6(SACS):c.11601_11604del (p.Lys3867fs)
NM_014363.6(SACS):c.11606T>A (p.Leu3869Ter) rs2137565163
NM_014363.6(SACS):c.11634dup (p.Arg3879fs)
NM_014363.6(SACS):c.11637_11638del (p.Arg3879fs) rs1593121924
NM_014363.6(SACS):c.11665C>T (p.Gln3889Ter)
NM_014363.6(SACS):c.11674dup (p.Ser3892fs) rs2137564626
NM_014363.6(SACS):c.11724C>G (p.Tyr3908Ter) rs745740932
NM_014363.6(SACS):c.11848del (p.Tyr3950fs) rs2137563478
NM_014363.6(SACS):c.1185_1194del (p.Cys395fs) rs2137724246
NM_014363.6(SACS):c.1189dup (p.Ser397fs)
NM_014363.6(SACS):c.11914C>T (p.Arg3972Ter) rs781491486
NM_014363.6(SACS):c.11941C>T (p.Gln3981Ter) rs1593121484
NM_014363.6(SACS):c.12007C>T (p.Gln4003Ter)
NM_014363.6(SACS):c.12014T>C (p.Leu4005Pro) rs2137561906
NM_014363.6(SACS):c.12028C>T (p.Gln4010Ter) rs148297332
NM_014363.6(SACS):c.12058A>T (p.Lys4020Ter)
NM_014363.6(SACS):c.12089del (p.Asn4030fs)
NM_014363.6(SACS):c.12106A>T (p.Arg4036Ter) rs2137561134
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>T (p.Arg4078Ter) rs141315518
NM_014363.6(SACS):c.12268C>A (p.His4090Asn) rs2137559913
NM_014363.6(SACS):c.1226_1227del (p.Ser409fs)
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs) rs1057516365
NM_014363.6(SACS):c.1229T>A (p.Leu410Ter)
NM_014363.6(SACS):c.12416dup (p.Leu4139fs)
NM_014363.6(SACS):c.12446C>G (p.Ser4149Ter)
NM_014363.6(SACS):c.12529dup (p.Tyr4177fs)
NM_014363.6(SACS):c.12536del (p.Gly4179fs) rs2137557859
NM_014363.6(SACS):c.12538G>T (p.Glu4180Ter) rs2137557832
NM_014363.6(SACS):c.1256del (p.Ile419fs)
NM_014363.6(SACS):c.12603C>A (p.Tyr4201Ter)
NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter) rs1555249555
NM_014363.6(SACS):c.12673_12677del (p.Tyr4225fs)
NM_014363.6(SACS):c.12710_12713del (p.Val4237fs)
NM_014363.6(SACS):c.12736del (p.Ser4246fs)
NM_014363.6(SACS):c.12757C>T (p.Gln4253Ter)
NM_014363.6(SACS):c.12766del (p.Asp4256fs) rs1555249479
NM_014363.6(SACS):c.12835_12836del (p.Leu4279fs) rs1555249425
NM_014363.6(SACS):c.12839_12843del (p.Phe4280fs)
NM_014363.6(SACS):c.12839del (p.Phe4280fs) rs1197238841
NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs) rs786204628
NM_014363.6(SACS):c.12885dup (p.Lys4296fs) rs2137553918
NM_014363.6(SACS):c.12908T>A (p.Leu4303Ter) rs1566055368
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs) rs1057517294
NM_014363.6(SACS):c.12953G>A (p.Trp4318Ter)
NM_014363.6(SACS):c.12954G>A (p.Trp4318Ter) rs2137553245
NM_014363.6(SACS):c.12980del (p.Lys4327fs) rs1555249371
NM_014363.6(SACS):c.12981_12984del (p.Ile4328fs) rs1883423972
NM_014363.6(SACS):c.13017C>A (p.Asp4339Glu)
NM_014363.6(SACS):c.13042dup (p.Ala4348fs) rs2137552236
NM_014363.6(SACS):c.13064del (p.Leu4355fs) rs2137552117
NM_014363.6(SACS):c.13085T>A (p.Leu4362Ter) rs774995570
NM_014363.6(SACS):c.13132C>T (p.Arg4378Ter) rs747868017
NM_014363.6(SACS):c.13176C>G (p.Tyr4392Ter) rs1285760809
NM_014363.6(SACS):c.13208_13209del (p.Gln4403fs) rs2137550994
NM_014363.6(SACS):c.13236_13239del (p.Arg4412fs)
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.13319C>A (p.Ser4440Ter)
NM_014363.6(SACS):c.13342del (p.Arg4448fs) rs2137549635
NM_014363.6(SACS):c.13414dup (p.Trp4472fs)
NM_014363.6(SACS):c.13415G>A (p.Trp4472Ter)
NM_014363.6(SACS):c.13454T>C (p.Leu4485Ser) rs1566054340
NM_014363.6(SACS):c.1346del (p.Pro449fs)
NM_014363.6(SACS):c.13487_13488del (p.Lys4495_Ser4496insTer)
NM_014363.6(SACS):c.13527dup (p.Glu4510fs) rs797045936
NM_014363.6(SACS):c.1358del (p.Gly453fs) rs2137722808
NM_014363.6(SACS):c.13614C>A (p.Tyr4538Ter) rs927804920
NM_014363.6(SACS):c.1370_1371dup (p.Thr458fs) rs765667160
NM_014363.6(SACS):c.1441G>T (p.Glu481Ter) rs1593144887
NM_014363.6(SACS):c.1531_1532insT (p.Asp511fs)
NM_014363.6(SACS):c.1542dup (p.Arg515fs) rs2137721367
NM_014363.6(SACS):c.1555del (p.Glu519fs) rs2137721150
NM_014363.6(SACS):c.1620del (p.Val541fs)
NM_014363.6(SACS):c.1627del (p.Val543fs) rs1870251884
NM_014363.6(SACS):c.1647dup (p.Glu550fs)
NM_014363.6(SACS):c.1672C>T (p.Gln558Ter) rs923921184
NM_014363.6(SACS):c.1693del (p.Ile565fs)
NM_014363.6(SACS):c.1705_1706del (p.Trp569fs) rs2137719772
NM_014363.6(SACS):c.1706G>A (p.Trp569Ter) rs1555254256
NM_014363.6(SACS):c.1707G>A (p.Trp569Ter) rs1593144544
NM_014363.6(SACS):c.1720C>T (p.Gln574Ter)
NM_014363.6(SACS):c.1752del (p.Glu585fs) rs2137719240
NM_014363.6(SACS):c.1769_1770del (p.Val590fs) rs1383333220
NM_014363.6(SACS):c.1783C>T (p.Gln595Ter) rs2137718900
NM_014363.6(SACS):c.1844_1845del (p.Thr615fs) rs2137718161
NM_014363.6(SACS):c.187A>T (p.Lys63Ter) rs1593157923
NM_014363.6(SACS):c.1919_1920del (p.His640fs) rs797045937
NM_014363.6(SACS):c.1925del (p.Gly642fs) rs2137717323
NM_014363.6(SACS):c.1940del (p.Lys647fs) rs1593144167
NM_014363.6(SACS):c.1972C>T (p.Gln658Ter) rs1238606214
NM_014363.6(SACS):c.2034dup (p.Phe679fs)
NM_014363.6(SACS):c.2060del (p.Asp687fs) rs2137716138
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014363.6(SACS):c.2224C>T (p.Arg742Ter) rs1057517285
NM_014363.6(SACS):c.2281_2284del (p.Ile761fs) rs2137645390
NM_014363.6(SACS):c.237dup (p.Ser80fs) rs770311689
NM_014363.6(SACS):c.2387del (p.Leu796fs)
NM_014363.6(SACS):c.2428del (p.Glu810fs)
NM_014363.6(SACS):c.2451del (p.Ile818fs) rs2137643958
NM_014363.6(SACS):c.2578C>T (p.Gln860Ter) rs76194641
NM_014363.6(SACS):c.2593A>T (p.Lys865Ter) rs1566072001
NM_014363.6(SACS):c.262C>T (p.Arg88Ter) rs1555255676
NM_014363.6(SACS):c.2656C>T (p.Gln886Ter)
NM_014363.6(SACS):c.2699_2700del (p.Lys900fs) rs1167474602
NM_014363.6(SACS):c.2713A>T (p.Lys905Ter) rs1593133714
NM_014363.6(SACS):c.2755del (p.Arg919fs) rs2137641201
NM_014363.6(SACS):c.2775_2776del (p.Phe927fs) rs1593133607
NM_014363.6(SACS):c.2881C>T (p.Arg961Ter) rs1593133395
NM_014363.6(SACS):c.2903_2906del (p.Asp968fs) rs1259615333
NM_014363.6(SACS):c.2938_2939del (p.Met980fs) rs1593133306
NM_014363.6(SACS):c.2950G>T (p.Glu984Ter) rs1869146335
NM_014363.6(SACS):c.297dup (p.Leu100fs)
NM_014363.6(SACS):c.2987T>G (p.Leu996Ter) rs1450257625
NM_014363.6(SACS):c.3005_3006insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGATATTGAAAATGC (p.Ala1002_Phe1003insAlaGlyArgGlyGlySerArgLeuTer) rs2137639039
NM_014363.6(SACS):c.3029_3030insTTAC (p.Gln1011fs)
NM_014363.6(SACS):c.3055A>G (p.Asn1019Asp) rs1566071225
NM_014363.6(SACS):c.3059dup (p.Ser1021fs) rs1869136727
NM_014363.6(SACS):c.3094G>T (p.Glu1032Ter) rs1272702356
NM_014363.6(SACS):c.3130C>T (p.Gln1044Ter)
NM_014363.6(SACS):c.3161T>C (p.Phe1054Ser) rs137853019
NM_014363.6(SACS):c.3168del (p.Asp1057fs) rs2137637783
NM_014363.6(SACS):c.321T>A (p.Tyr107Ter)
NM_014363.6(SACS):c.3235dup (p.Thr1079fs)
NM_014363.6(SACS):c.3281dup (p.Asn1094fs) rs2137636957
NM_014363.6(SACS):c.3298_3301del (p.Glu1100fs) rs1869112857
NM_014363.6(SACS):c.3309dup (p.Val1104fs) rs2137636629
NM_014363.6(SACS):c.3328del (p.Ile1110fs)
NM_014363.6(SACS):c.3328dup (p.Ile1110fs) rs770866403
NM_014363.6(SACS):c.3343dup (p.Val1115fs) rs2137636328
NM_014363.6(SACS):c.3356del (p.Pro1119fs) rs1057517039
NM_014363.6(SACS):c.3396dup (p.Leu1133fs)
NM_014363.6(SACS):c.3427C>T (p.Gln1143Ter) rs144267558
NM_014363.6(SACS):c.3484G>T (p.Glu1162Ter) rs1246013998
NM_014363.6(SACS):c.350del (p.Glu116_Leu117insTer)
NM_014363.6(SACS):c.3585del (p.Ile1195fs) rs2137634136
NM_014363.6(SACS):c.3702G>A (p.Trp1234Ter)
NM_014363.6(SACS):c.382_383del (p.Glu128fs) rs757179309
NM_014363.6(SACS):c.3830G>A (p.Trp1277Ter)
NM_014363.6(SACS):c.3832del (p.Val1278fs)
NM_014363.6(SACS):c.3836G>A (p.Trp1279Ter) rs756963289
NM_014363.6(SACS):c.4033dup (p.Gln1345fs) rs606231163
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.410_411del (p.Gln137fs)
NM_014363.6(SACS):c.4117_4118delinsTA (p.Ala1373Ter) rs797045938
NM_014363.6(SACS):c.414C>G (p.Tyr138Ter) rs199474695
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter) rs867249938
NM_014363.6(SACS):c.4233_4236del (p.Leu1412fs)
NM_014363.6(SACS):c.4259_4263del (p.Ile1420fs) rs1869006331
NM_014363.6(SACS):c.4265_4274dup (p.Asp1425_Ile1426insAlaTer) rs1555252433
NM_014363.6(SACS):c.427_428del (p.Trp144fs)
NM_014363.6(SACS):c.429_430del (p.Trp144fs)
NM_014363.6(SACS):c.4328_4329del (p.Leu1443fs)
NM_014363.6(SACS):c.4361C>G (p.Ser1454Ter)
NM_014363.6(SACS):c.4371_4374del (p.Arg1457fs) rs2137628257
NM_014363.6(SACS):c.4393A>T (p.Lys1465Ter)
NM_014363.6(SACS):c.4494_4498del (p.Asp1498fs)
NM_014363.6(SACS):c.4519_4522del (p.Glu1507fs) rs1307665214
NM_014363.6(SACS):c.4539del (p.Met1514fs)
NM_014363.6(SACS):c.453T>A (p.Tyr151Ter) rs2137781223
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.4598C>G (p.Ser1533Ter) rs886041813
NM_014363.6(SACS):c.4639dup (p.Arg1547fs)
NM_014363.6(SACS):c.466_469del (p.Leu156fs)
NM_014363.6(SACS):c.4701del (p.Asp1568fs)
NM_014363.6(SACS):c.470_471del (p.Tyr157fs) rs1444216187
NM_014363.6(SACS):c.4718T>G (p.Met1573Arg) rs2137625077
NM_014363.6(SACS):c.4724G>C (p.Arg1575Pro) rs764992284
NM_014363.6(SACS):c.4756_4760del (p.Asn1586fs) rs765361868
NM_014363.6(SACS):c.4775_4776del (p.Ile1592fs) rs2137624455
NM_014363.6(SACS):c.477C>A (p.Tyr159Ter)
NM_014363.6(SACS):c.4835dup (p.Phe1614fs) rs2137624079
NM_014363.6(SACS):c.4877_4880del (p.Gly1626fs) rs757872635
NM_014363.6(SACS):c.4910dup (p.Tyr1637Ter)
NM_014363.6(SACS):c.4911C>A (p.Tyr1637Ter) rs1868929983
NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter) rs770901638
NM_014363.6(SACS):c.4937del (p.Leu1646fs)
NM_014363.6(SACS):c.4951C>T (p.Gln1651Ter) rs2137623007
NM_014363.6(SACS):c.4954C>T (p.Gln1652Ter)
NM_014363.6(SACS):c.5008_5011del (p.Tyr1670fs) rs2137622518
NM_014363.6(SACS):c.5063dup (p.Ser1689fs)
NM_014363.6(SACS):c.5065_5066del (p.Ser1689fs) rs1372213267
NM_014363.6(SACS):c.5075C>A (p.Ser1692Ter) rs1555252184
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter) rs1057517311
NM_014363.6(SACS):c.5141_5144del (p.Ile1714fs)
NM_014363.6(SACS):c.5151del (p.Lys1717fs) rs754439135
NM_014363.6(SACS):c.5151dup (p.Ser1718fs) rs754439135
NM_014363.6(SACS):c.5163del (p.Ala1723fs)
NM_014363.6(SACS):c.5172_5173delinsTGGAACACAAAG (p.Leu1724fs) rs1868900449
NM_014363.6(SACS):c.517C>T (p.Gln173Ter) rs1593147785
NM_014363.6(SACS):c.5301del (p.His1768fs)
NM_014363.6(SACS):c.5379del (p.Phe1793fs) rs1057517297
NM_014363.6(SACS):c.5380del (p.Glu1794fs)
NM_014363.6(SACS):c.5393_5394del (p.Ser1798fs) rs2137619202
NM_014363.6(SACS):c.5405_5408del (p.Lys1802fs)
NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter) rs1868872666
NM_014363.6(SACS):c.5440_5449del (p.Glu1814fs) rs1566067485
NM_014363.6(SACS):c.5482G>T (p.Glu1828Ter)
NM_014363.6(SACS):c.5554C>T (p.Gln1852Ter)
NM_014363.6(SACS):c.5598_5599del (p.Ile1867fs) rs1555252086
NM_014363.6(SACS):c.5700G>A (p.Trp1900Ter)
NM_014363.6(SACS):c.5707_5708del (p.Asp1903fs) rs1593129673
NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter) rs1485209013
NM_014363.6(SACS):c.5743_5744del (p.His1915fs) rs2137616213
NM_014363.6(SACS):c.5744_5745del (p.His1915fs) rs1057517138
NM_014363.6(SACS):c.5761T>G (p.Tyr1921Asp) rs2137616027
NM_014363.6(SACS):c.5764_5767del (p.Leu1922fs) rs759166250
NM_014363.6(SACS):c.5796_5809del (p.Thr1933fs) rs2137615608
NM_014363.6(SACS):c.5824_5827del (p.Tyr1942fs) rs2137615500
NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg) rs137853017
NM_014363.6(SACS):c.5901dup (p.Ala1968fs)
NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs) rs773754134
NM_014363.6(SACS):c.6002_6003dup (p.Arg2002fs)
NM_014363.6(SACS):c.6045_6049del (p.Tyr2015_Lys2017delinsTer)
NM_014363.6(SACS):c.611del (p.Pro204fs)
NM_014363.6(SACS):c.6126C>A (p.Cys2042Ter) rs761655321
NM_014363.6(SACS):c.6172del (p.Ser2058fs) rs1214399996
NM_014363.6(SACS):c.6172dup (p.Ser2058fs)
NM_014363.6(SACS):c.6218del (p.Arg2073fs)
NM_014363.6(SACS):c.621dup (p.Ser208Ter) rs2137729385
NM_014363.6(SACS):c.6221del (p.Asp2074fs) rs1057517366
NM_014363.6(SACS):c.6290del (p.Cys2097fs) rs1868755540
NM_014363.6(SACS):c.6300T>A (p.Cys2100Ter) rs2137610914
NM_014363.6(SACS):c.6303del (p.Leu2102fs) rs2137610861
NM_014363.6(SACS):c.6338_6341del (p.Leu2113fs) rs1555251822
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter) rs766711286
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.6538dup (p.Ala2180fs)
NM_014363.6(SACS):c.6623del (p.Ala2208fs) rs1181477970
NM_014363.6(SACS):c.6650C>A (p.Pro2217Gln) rs1868700605
NM_014363.6(SACS):c.6663del (p.Lys2221fs) rs1555251699
NM_014363.6(SACS):c.6757dup (p.Ile2253fs) rs1057516932
NM_014363.6(SACS):c.6770del (p.Leu2257fs)
NM_014363.6(SACS):c.6799del (p.Ser2267fs)
NM_014363.6(SACS):c.6837dup (p.Glu2280fs) rs748765057
NM_014363.6(SACS):c.6845T>A (p.Leu2282Ter) rs2137606000
NM_014363.6(SACS):c.6866_6867del (p.Thr2289fs)
NM_014363.6(SACS):c.6894_6897del (p.Lys2298_Glu2299insTer)
NM_014363.6(SACS):c.699del (p.Asp235fs) rs1415870785
NM_014363.6(SACS):c.7020_7024del (p.Leu2341fs)
NM_014363.6(SACS):c.7080_7084del (p.His2362fs) rs1294102415
NM_014363.6(SACS):c.7106C>T (p.Pro2369Leu)
NM_014363.6(SACS):c.7110C>G (p.Tyr2370Ter) rs1555251553
NM_014363.6(SACS):c.7117C>T (p.Gln2373Ter)
NM_014363.6(SACS):c.7127dup (p.Asn2376fs) rs2137603643
NM_014363.6(SACS):c.7134T>G (p.Tyr2378Ter) rs762475019
NM_014363.6(SACS):c.7139del (p.Asn2380fs) rs1057516689
NM_014363.6(SACS):c.7147del (p.Arg2383fs) rs1868641702
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs) rs1555251539
NM_014363.6(SACS):c.7219_7220del (p.Ser2406_Ile2407insTer)
NM_014363.6(SACS):c.7250_7254del (p.Thr2417fs) rs1868628768
NM_014363.6(SACS):c.7252G>T (p.Glu2418Ter) rs2137602382
NM_014363.6(SACS):c.7255G>T (p.Glu2419Ter) rs2137602329
NM_014363.6(SACS):c.7255_7259del (p.Glu2419fs)
NM_014363.6(SACS):c.7272C>A (p.Cys2424Ter) rs1868626730
NM_014363.6(SACS):c.7274G>C (p.Arg2425Pro) rs771583552
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter) rs786204750
NM_014363.6(SACS):c.7316_7320del (p.Lys2439fs) rs2137601578
NM_014363.6(SACS):c.7321C>T (p.Gln2441Ter)
NM_014363.6(SACS):c.7322_7323del (p.Gln2441fs)
NM_014363.6(SACS):c.7374del (p.Met2459fs) rs1868615639
NM_014363.6(SACS):c.7379_7380del (p.Leu2460fs)
NM_014363.6(SACS):c.7398dup (p.Cys2467fs)
NM_014363.6(SACS):c.7415del (p.Pro2472fs) rs2137600629
NM_014363.6(SACS):c.7516_7522dup (p.Arg2508fs)
NM_014363.6(SACS):c.7521_7524del (p.Glu2507fs) rs1057516438
NM_014363.6(SACS):c.7539_7540del (p.Cys2514fs) rs1467848128
NM_014363.6(SACS):c.7641dup (p.Glu2548fs) rs876657720
NM_014363.6(SACS):c.7648del (p.Leu2550fs)
NM_014363.6(SACS):c.7655dup (p.Asn2552fs) rs1868578034
NM_014363.6(SACS):c.7764_7767dup (p.Val2590fs) rs1868567420
NM_014363.6(SACS):c.7788del (p.Phe2596fs) rs1057516959
NM_014363.6(SACS):c.7844del (p.Asn2615fs) rs758572409
NM_014363.6(SACS):c.7903del (p.Cys2635fs) rs1028098148
NM_014363.6(SACS):c.7928_7937del (p.Asp2643fs)
NM_014363.6(SACS):c.7962T>G (p.Tyr2654Ter)
NM_014363.6(SACS):c.8034del (p.Ser2679fs) rs1220821559
NM_014363.6(SACS):c.8107C>T (p.Arg2703Cys) rs780332615
NM_014363.6(SACS):c.8132C>A (p.Ser2711Ter) rs1213203489
NM_014363.6(SACS):c.8148del (p.Pro2717fs)
NM_014363.6(SACS):c.815G>A (p.Arg272His) rs745907077
NM_014363.6(SACS):c.8189_8190del (p.Leu2730fs)
NM_014363.6(SACS):c.8196_8199del (p.Asp2733fs) rs2137594187
NM_014363.6(SACS):c.8227del (p.His2743fs) rs2137593965
NM_014363.6(SACS):c.8238_8239dup (p.Ile2747fs) rs779248938
NM_014363.6(SACS):c.8239dup (p.Ile2747fs)
NM_014363.6(SACS):c.8251del (p.Glu2751fs)
NM_014363.6(SACS):c.8261dup (p.Ser2755fs) rs2137593625
NM_014363.6(SACS):c.8264del (p.Ser2755fs)
NM_014363.6(SACS):c.826C>T (p.Arg276Cys)
NM_014363.6(SACS):c.832C>T (p.Gln278Ter) rs1555254439
NM_014363.6(SACS):c.8340del (p.His2781fs) rs753958013
NM_014363.6(SACS):c.8377C>T (p.Gln2793Ter) rs1240368715
NM_014363.6(SACS):c.8385dup (p.Asp2796fs)
NM_014363.6(SACS):c.8390dup (p.Pro2798fs)
NM_014363.6(SACS):c.8454G>A (p.Trp2818Ter) rs1868481514
NM_014363.6(SACS):c.8471C>G (p.Ser2824Ter) rs1868480299
NM_014363.6(SACS):c.8542_8543del (p.Phe2848fs) rs876657721
NM_014363.6(SACS):c.8584A>T (p.Lys2862Ter) rs2137590717
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.8765dup (p.Tyr2922Ter) rs2137589721
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014363.6(SACS):c.8793dup (p.Arg2932fs) rs767871841
NM_014363.6(SACS):c.8799T>A (p.Tyr2933Ter)
NM_014363.6(SACS):c.8807del (p.Gly2936fs)
NM_014363.6(SACS):c.8822T>G (p.Leu2941Ter) rs530269705
NM_014363.6(SACS):c.8911C>T (p.Gln2971Ter)
NM_014363.6(SACS):c.8955del (p.His2986fs) rs1228783766
NM_014363.6(SACS):c.9069_9070del (p.Arg3024fs) rs1868424934
NM_014363.6(SACS):c.9088_9089dup (p.Leu3030fs) rs1057517060
NM_014363.6(SACS):c.9106C>T (p.Gln3036Ter)
NM_014363.6(SACS):c.9119dup (p.Asn3040fs) rs1435126137
NM_014363.6(SACS):c.914_915del (p.Thr305fs) rs2137726985
NM_014363.6(SACS):c.9156dup (p.Glu3053fs)
NM_014363.6(SACS):c.9219_9220del (p.Cys3073_Asp3074delinsTer)
NM_014363.6(SACS):c.922C>T (p.Leu308Phe)
NM_014363.6(SACS):c.9233del (p.Asn3078fs) rs1593125341
NM_014363.6(SACS):c.9249del (p.Leu3083_Ile3084insTer) rs1868403104
NM_014363.6(SACS):c.9266del (p.Pro3089fs)
NM_014363.6(SACS):c.9272_9275del (p.Ser3091fs)
NM_014363.6(SACS):c.9284del (p.Pro3095fs)
NM_014363.6(SACS):c.9292dup (p.Ile3098fs)
NM_014363.6(SACS):c.9311del (p.Thr3104fs)
NM_014363.6(SACS):c.9332del (p.Asn3111fs) rs1883705830
NM_014363.6(SACS):c.9367C>T (p.Gln3123Ter) rs2137584477
NM_014363.6(SACS):c.9417_9433del (p.Cys3139_Glu3145delinsTer) rs2137583946
NM_014363.6(SACS):c.9484_9496del (p.Val3162fs)
NM_014363.6(SACS):c.9508_9518del (p.Arg3170fs)
NM_014363.6(SACS):c.9561_9564del (p.Leu3187_Phe3188insTer) rs1060503431
NM_014363.6(SACS):c.9576_9580del (p.Leu3192fs) rs1883687132
NM_014363.6(SACS):c.961C>T (p.Arg321Ter) rs1175545518
NM_014363.6(SACS):c.9659_9660del (p.Ser3220fs) rs2137582027
NM_014363.6(SACS):c.9670C>T (p.Arg3224Ter) rs751568153
NM_014363.6(SACS):c.9678T>G (p.Tyr3226Ter)
NM_014363.6(SACS):c.9702G>A (p.Trp3234Ter) rs2137581531
NM_014363.6(SACS):c.9742T>C (p.Trp3248Arg) rs137853018
NM_014363.6(SACS):c.9744G>A (p.Trp3248Ter) rs1883673959
NM_014363.6(SACS):c.9764dup (p.Ser3256fs)
NM_014363.6(SACS):c.9834G>A (p.Trp3278Ter) rs1174846895
NM_014363.6(SACS):c.9866C>G (p.Ser3289Ter) rs2137580127
NM_014363.6(SACS):c.9956_9957del (p.Lys3319fs) rs772704931
NM_014363.6(SACS):c.9987T>A (p.Cys3329Ter) rs2137578916

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