ClinVar Miner

List of variants in gene SACS reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 375
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HGVS dbSNP
NM_014363.4:c.6592_6593ins9 rs1555251719
NM_014363.6(SACS):c.*1200A>G rs558041482
NM_014363.6(SACS):c.*1292A>T rs147476665
NM_014363.6(SACS):c.*307A>G rs576860445
NM_014363.6(SACS):c.*882A>C rs886050069
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.-531G>A rs73154650
NM_014363.6(SACS):c.-59C>A rs150561537
NM_014363.6(SACS):c.-70G>A rs575970347
NM_014363.6(SACS):c.10034T>C (p.Val3345Ala) rs767926148
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.10118C>T (p.Thr3373Ile) rs200591364
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser)
NM_014363.6(SACS):c.10205A>G (p.Asp3402Gly)
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg) rs147317123
NM_014363.6(SACS):c.10298C>G (p.Thr3433Arg) rs200991790
NM_014363.6(SACS):c.10327A>C (p.Lys3443Gln)
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.10461_10462delinsAA (p.Asn3487_Leu3488delinsLysIle) rs886043821
NM_014363.6(SACS):c.10508_10510del (p.Arg3503_Leu3504delinsIle) rs1555250190
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.1061C>G (p.Thr354Ser)
NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys) rs747013127
NM_014363.6(SACS):c.10651_10656del (p.Met3551_Leu3552del) rs1555250156
NM_014363.6(SACS):c.10668G>A (p.Leu3556=) rs139517699
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu) rs148286091
NM_014363.6(SACS):c.1066A>G (p.Ile356Val) rs148286091
NM_014363.6(SACS):c.10675C>G (p.Pro3559Ala) rs767704103
NM_014363.6(SACS):c.10699G>A (p.Glu3567Lys) rs886050078
NM_014363.6(SACS):c.10708A>T (p.Ile3570Leu) rs878854977
NM_014363.6(SACS):c.10716C>G (p.Pro3572=) rs886050077
NM_014363.6(SACS):c.10755_10757del (p.Phe3585del) rs771277098
NM_014363.6(SACS):c.1081A>G (p.Lys361Glu) rs377027736
NM_014363.6(SACS):c.10862T>C (p.Leu3621Ser) rs1397997962
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.10954C>A (p.Pro3652Thr) rs201505036
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.11066C>A (p.Pro3689Gln) rs148925505
NM_014363.6(SACS):c.110G>A (p.Arg37His) rs866539724
NM_014363.6(SACS):c.11152G>A (p.Glu3718Lys) rs750040557
NM_014363.6(SACS):c.11161G>A (p.Gly3721Ser)
NM_014363.6(SACS):c.11291A>C (p.Glu3764Ala)
NM_014363.6(SACS):c.11327T>C (p.Ile3776Thr)
NM_014363.6(SACS):c.11348A>G (p.Glu3783Gly) rs1048404551
NM_014363.6(SACS):c.11380G>T (p.Val3794Phe)
NM_014363.6(SACS):c.11409G>T (p.Trp3803Cys) rs886050075
NM_014363.6(SACS):c.11688G>A (p.Arg3896=) rs116791509
NM_014363.6(SACS):c.11703T>C (p.Asn3901=) rs146154135
NM_014363.6(SACS):c.11717C>T (p.Ala3906Val) rs375961779
NM_014363.6(SACS):c.11737G>C (p.Asp3913His) rs746782589
NM_014363.6(SACS):c.11738A>T (p.Asp3913Val)
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.11899C>G (p.Gln3967Glu) rs1261408099
NM_014363.6(SACS):c.11901A>G (p.Gln3967=) rs572068106
NM_014363.6(SACS):c.11928T>C (p.Ser3976=) rs145680118
NM_014363.6(SACS):c.11942A>G (p.Gln3981Arg) rs747314113
NM_014363.6(SACS):c.12020C>T (p.Ser4007Phe) rs1314135259
NM_014363.6(SACS):c.1202G>A (p.Arg401Gln) rs749599838
NM_014363.6(SACS):c.12059A>G (p.Lys4020Arg)
NM_014363.6(SACS):c.12063T>C (p.His4021=) rs886050074
NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu)
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.12242A>G (p.Asn4081Ser) rs1060503432
NM_014363.6(SACS):c.1224C>T (p.Asp408=) rs2274386
NM_014363.6(SACS):c.12260A>G (p.Tyr4087Cys)
NM_014363.6(SACS):c.12438G>A (p.Ser4146=) rs150959878
NM_014363.6(SACS):c.1255A>G (p.Ile419Val) rs767818359
NM_014363.6(SACS):c.12597A>G (p.Pro4199=) rs112630127
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.12682G>C (p.Asp4228His) rs1447327391
NM_014363.6(SACS):c.12688G>A (p.Gly4230Ser) rs746194271
NM_014363.6(SACS):c.12700T>C (p.Tyr4234His) rs886050073
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.12820A>G (p.Arg4274Gly) rs1566055596
NM_014363.6(SACS):c.12830_12832CTC[1] (p.Pro4278del) rs764766520
NM_014363.6(SACS):c.12835_12837del (p.Leu4279del) rs1555249424
NM_014363.6(SACS):c.12884C>T (p.Pro4295Leu)
NM_014363.6(SACS):c.12905C>A (p.Ser4302Tyr)
NM_014363.6(SACS):c.12991C>T (p.Arg4331Trp) rs1555249369
NM_014363.6(SACS):c.13009C>G (p.His4337Asp) rs1555249362
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.13039A>G (p.Ile4347Val) rs200939906
NM_014363.6(SACS):c.13106A>G (p.Asp4369Gly)
NM_014363.6(SACS):c.13269A>T (p.Ser4423=) rs1180908312
NM_014363.6(SACS):c.13282T>G (p.Tyr4428Asp) rs886050071
NM_014363.6(SACS):c.13349G>A (p.Trp4450Ter) rs1555249236
NM_014363.6(SACS):c.13360del (p.Ala4454fs) rs1555249223
NM_014363.6(SACS):c.13378_13379delinsTA (p.Ala4460Tyr) rs1566054479
NM_014363.6(SACS):c.13393del (p.Leu4465fs) rs1555249211
NM_014363.6(SACS):c.13474G>A (p.Val4492Met) rs774647600
NM_014363.6(SACS):c.134C>T (p.Pro45Leu) rs1033188876
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.13574C>G (p.Thr4525Arg) rs750412600
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.13736_13737TG[1] (p.Ter4580LysextTer?) rs776682685
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954
NM_014363.6(SACS):c.137T>G (p.Val46Gly)
NM_014363.6(SACS):c.141G>A (p.Ser47=)
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.1463C>T (p.Pro488Leu) rs375875022
NM_014363.6(SACS):c.1483T>A (p.Phe495Ile) rs748972179
NM_014363.6(SACS):c.1519A>G (p.Thr507Ala) rs372022664
NM_014363.6(SACS):c.1525A>G (p.Ile509Val) rs1566080067
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr)
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.1640C>T (p.Pro547Leu) rs140507581
NM_014363.6(SACS):c.171+13C>T rs374672041
NM_014363.6(SACS):c.1728C>T (p.Tyr576=) rs750748828
NM_014363.6(SACS):c.1799A>G (p.Gln600Arg) rs1348513054
NM_014363.6(SACS):c.1846G>C (p.Ala616Pro)
NM_014363.6(SACS):c.1886C>T (p.Ala629Val) rs760505057
NM_014363.6(SACS):c.1906C>T (p.Arg636Trp) rs201752905
NM_014363.6(SACS):c.1907G>A (p.Arg636Gln)
NM_014363.6(SACS):c.1912T>G (p.Cys638Gly) rs200333323
NM_014363.6(SACS):c.1917A>G (p.Ala639=) rs138457742
NM_014363.6(SACS):c.2023A>T (p.Asn675Tyr) rs374667929
NM_014363.6(SACS):c.2024A>G (p.Asn675Ser)
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.2186-4A>G rs371866995
NM_014363.6(SACS):c.2233C>T (p.Arg745Cys)
NM_014363.6(SACS):c.2234G>A (p.Arg745His) rs143677534
NM_014363.6(SACS):c.2294A>G (p.Tyr765Cys)
NM_014363.6(SACS):c.2471C>T (p.Ser824Leu)
NM_014363.6(SACS):c.247T>C (p.Leu83=) rs1470292816
NM_014363.6(SACS):c.2487C>T (p.Asp829=) rs151198216
NM_014363.6(SACS):c.2492A>G (p.Glu831Gly)
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys) rs143433500
NM_014363.6(SACS):c.2509C>T (p.Pro837Ser)
NM_014363.6(SACS):c.2551G>T (p.Val851Phe) rs756890722
NM_014363.6(SACS):c.2580A>G (p.Gln860=)
NM_014363.6(SACS):c.2581C>T (p.His861Tyr)
NM_014363.6(SACS):c.2599T>C (p.Tyr867His) rs774682589
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.2669A>G (p.Asn890Ser) rs376902764
NM_014363.6(SACS):c.2681C>T (p.Ser894Leu) rs201857647
NM_014363.6(SACS):c.2702A>T (p.Asp901Val)
NM_014363.6(SACS):c.2776A>G (p.Ile926Val)
NM_014363.6(SACS):c.2788A>G (p.Ile930Val) rs886050088
NM_014363.6(SACS):c.2853C>A (p.His951Gln) rs200644511
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser) rs139993038
NM_014363.6(SACS):c.2983G>T (p.Val995Phe) rs142967124
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr) rs371869943
NM_014363.6(SACS):c.3017A>G (p.His1006Arg)
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.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.3242C>T (p.Pro1081Leu) rs377493083
NM_014363.6(SACS):c.3345C>T (p.Val1115=) rs143287019
NM_014363.6(SACS):c.3346G>T (p.Gly1116Cys) rs774044532
NM_014363.6(SACS):c.3369_3371TCT[1] (p.Leu1125del) rs1555252672
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe) rs139805032
NM_014363.6(SACS):c.3408T>G (p.Asn1136Lys) rs756303420
NM_014363.6(SACS):c.3413A>G (p.Asn1138Ser) rs1202128043
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys) rs144267558
NM_014363.6(SACS):c.345+14C>T rs538944334
NM_014363.6(SACS):c.346-3T>A rs186506382
NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala) rs1443000762
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.3700T>A (p.Trp1234Arg) rs1192682879
NM_014363.6(SACS):c.3706_3707insACT (p.Tyr1235dup) rs1555252563
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr) rs76872266
NM_014363.6(SACS):c.3840T>A (p.Thr1280=)
NM_014363.6(SACS):c.3868G>T (p.Ala1290Ser) rs757939935
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.4117_4118delinsCT (p.Ala1373Leu) rs797045938
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.4279C>A (p.Pro1427Thr) rs527513599
NM_014363.6(SACS):c.4302A>G (p.Leu1434=) rs34559250
NM_014363.6(SACS):c.432G>T (p.Trp144Cys)
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630
NM_014363.6(SACS):c.4469C>G (p.Ala1490Gly) rs886043557
NM_014363.6(SACS):c.4604T>G (p.Phe1535Cys) rs1566068804
NM_014363.6(SACS):c.4606G>T (p.Val1536Leu) rs764832688
NM_014363.6(SACS):c.4612A>G (p.Ile1538Val) rs544249449
NM_014363.6(SACS):c.4628A>G (p.Glu1543Gly) rs370324250
NM_014363.6(SACS):c.4665A>C (p.Lys1555Asn)
NM_014363.6(SACS):c.4747C>A (p.Pro1583Thr) rs1566068552
NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser) rs201558584
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.4916A>G (p.Tyr1639Cys) rs1566068293
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met) rs200810800
NM_014363.6(SACS):c.494C>T (p.Thr165Ile) rs1419027987
NM_014363.6(SACS):c.4976T>G (p.Val1659Gly) rs886050085
NM_014363.6(SACS):c.4985C>T (p.Thr1662Met)
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.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)
NM_014363.6(SACS):c.5358_5360TGA[1] (p.Asp1788del) rs775922113
NM_014363.6(SACS):c.5368G>A (p.Ala1790Thr)
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.5583G>C (p.Trp1861Cys) rs140678034
NM_014363.6(SACS):c.559G>T (p.Val187Phe)
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter) rs761089024
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)
NM_014363.6(SACS):c.5832A>G (p.Ala1944=)
NM_014363.6(SACS):c.5841C>T (p.Pro1947=) rs145371235
NM_014363.6(SACS):c.5842G>A (p.Asp1948Asn) rs772515267
NM_014363.6(SACS):c.5848G>A (p.Asp1950Asn) rs370902090
NM_014363.6(SACS):c.5858A>T (p.His1953Leu) rs1428265468
NM_014363.6(SACS):c.5906A>G (p.His1969Arg)
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.593A>G (p.Tyr198Cys) rs1461096954
NM_014363.6(SACS):c.5975G>A (p.Arg1992Lys)
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.6030G>T (p.Lys2010Asn) rs769751841
NM_014363.6(SACS):c.6044A>C (p.Tyr2015Ser) rs1131691664
NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu) rs747566710
NM_014363.6(SACS):c.605A>G (p.Asp202Gly)
NM_014363.6(SACS):c.6069C>T (p.Asn2023=) rs35369023
NM_014363.6(SACS):c.6084A>T (p.Glu2028Asp) rs149018756
NM_014363.6(SACS):c.6178G>C (p.Val2060Leu)
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.6343C>T (p.His2115Tyr) rs757161092
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys)
NM_014363.6(SACS):c.6406A>T (p.Thr2136Ser) rs1566066009
NM_014363.6(SACS):c.6409C>G (p.Gln2137Glu)
NM_014363.6(SACS):c.6436A>G (p.Ile2146Val) rs1415663565
NM_014363.6(SACS):c.6451T>G (p.Leu2151Val) rs886050084
NM_014363.6(SACS):c.6466_6468GAT[1] (p.Asp2157del) rs1204242892
NM_014363.6(SACS):c.6485A>G (p.Asp2162Gly) rs369388933
NM_014363.6(SACS):c.6512C>G (p.Ala2171Gly) rs765626875
NM_014363.6(SACS):c.6515A>C (p.Glu2172Ala) rs1566065814
NM_014363.6(SACS):c.6561C>T (p.Ile2187=) rs143477126
NM_014363.6(SACS):c.6565T>G (p.Leu2189Val) rs771923767
NM_014363.6(SACS):c.6577G>A (p.Asp2193Asn) rs149278134
NM_014363.6(SACS):c.6593T>C (p.Ile2198Thr) rs754906806
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.6665_6667CAG[1] (p.Ala2223del) rs1555251695
NM_014363.6(SACS):c.6754G>T (p.Asp2252Tyr) rs886050082
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.6856_6858AAG[1] (p.Lys2287del) rs1555251633
NM_014363.6(SACS):c.6857A>G (p.Lys2286Arg)
NM_014363.6(SACS):c.6859A>C (p.Lys2287Gln) rs1397588851
NM_014363.6(SACS):c.6871G>C (p.Asp2291His)
NM_014363.6(SACS):c.6932A>G (p.Tyr2311Cys) rs1566065185
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr) rs147949881
NM_014363.6(SACS):c.6993A>T (p.Glu2331Asp)
NM_014363.6(SACS):c.7079_7081del (p.Ser2360del) rs1555251573
NM_014363.6(SACS):c.7100C>T (p.Ala2367Val)
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys) rs61754478
NM_014363.6(SACS):c.7165G>A (p.Val2389Met) rs142869943
NM_014363.6(SACS):c.7171G>A (p.Val2391Met)
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val)
NM_014363.6(SACS):c.7288G>A (p.Glu2430Lys) rs201798841
NM_014363.6(SACS):c.736C>G (p.Gln246Glu) rs886050089
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser) rs78239814
NM_014363.6(SACS):c.7448_7456del (p.Tyr2483_Ala2486delinsSer) rs1555251416
NM_014363.6(SACS):c.7464A>G (p.Ile2488Met)
NM_014363.6(SACS):c.7466C>A (p.Pro2489His) rs766553685
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.7586C>A (p.Thr2529Asn)
NM_014363.6(SACS):c.7647T>G (p.Leu2549=) rs186301471
NM_014363.6(SACS):c.7713A>T (p.Pro2571=) rs557113294
NM_014363.6(SACS):c.7763T>A (p.Leu2588His) rs1555251328
NM_014363.6(SACS):c.7796_7798ATG[1] (p.Asp2600del) rs1555251315
NM_014363.6(SACS):c.7857T>C (p.Thr2619=) rs886050081
NM_014363.6(SACS):c.7898C>T (p.Thr2633Ile) rs1555251295
NM_014363.6(SACS):c.7915_7920del (p.Ile2639_Ser2640del) rs1555251289
NM_014363.6(SACS):c.7981A>G (p.Ile2661Val) rs1269342975
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.8080A>T (p.Asn2694Tyr) rs1390533003
NM_014363.6(SACS):c.8108G>A (p.Arg2703His) rs750181262
NM_014363.6(SACS):c.8133G>A (p.Ser2711=) rs143386746
NM_014363.6(SACS):c.8141C>T (p.Ser2714Leu) rs762610527
NM_014363.6(SACS):c.8142G>A (p.Ser2714=) rs530250252
NM_014363.6(SACS):c.818T>A (p.Phe273Tyr) rs182864646
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val) rs186436335
NM_014363.6(SACS):c.8269G>A (p.Gly2757Arg) rs1085307756
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.8356G>C (p.Asp2786His) rs753607639
NM_014363.6(SACS):c.8357A>G (p.Asp2786Gly) rs1566063039
NM_014363.6(SACS):c.8379G>A (p.Gln2793=) rs776028181
NM_014363.6(SACS):c.8388_8402del (p.Asp2796_Gln2801delinsGlu)
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762
NM_014363.6(SACS):c.83C>T (p.Ser28Phe) rs1365453773
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile) rs772742353
NM_014363.6(SACS):c.848_850GTA[1] (p.Ser284del) rs1555254436
NM_014363.6(SACS):c.8504G>A (p.Ser2835Asn)
NM_014363.6(SACS):c.8512_8514del (p.Ser2838del) rs1555251001
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val)
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.862_863delinsTC (p.Asn288Ser) rs1555254433
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.8836A>G (p.Asn2946Asp) rs184407783
NM_014363.6(SACS):c.8899C>A (p.Arg2967Ser) rs746834684
NM_014363.6(SACS):c.8948A>G (p.Asn2983Ser)
NM_014363.6(SACS):c.8956C>G (p.His2986Asp) rs751888795
NM_014363.6(SACS):c.8971C>T (p.Arg2991Cys) rs759112797
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.9008G>C (p.Gly3003Ala) rs1170753806
NM_014363.6(SACS):c.9031A>G (p.Ile3011Val) rs377657177
NM_014363.6(SACS):c.9173T>G (p.Leu3058Arg) rs758654165
NM_014363.6(SACS):c.9286G>A (p.Ala3096Thr) rs1085307569
NM_014363.6(SACS):c.9292A>G (p.Ile3098Val) rs745664974
NM_014363.6(SACS):c.9356_9358GTC[1] (p.Arg3120del) rs1388341388
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser) rs371019314
NM_014363.6(SACS):c.944A>G (p.Asp315Gly) rs771115225
NM_014363.6(SACS):c.9523_9525ACA[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.9551G>A (p.Arg3184His)
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu)
NM_014363.6(SACS):c.9680A>C (p.Lys3227Thr)
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.9731T>A (p.Leu3244His) rs886042769
NM_014363.6(SACS):c.973G>A (p.Gly325Arg) rs144303334
NM_014363.6(SACS):c.9774_9776AGA[1] (p.Glu3259del) rs768958169
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.9955A>G (p.Lys3319Glu) rs1566060408
NM_014363.6(SACS):c.99T>C (p.Asp33=) rs775206528

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