ClinVar Miner

List of variants in gene SACS studied for not provided

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Gene type:
ClinVar version:
Total variants: 376
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HGVS dbSNP
NM_014363.4(SACS):c.7276C>T rs786204750
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala) rs17078605
NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile) rs200591364
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter) rs1057517250
NM_014363.6(SACS):c.10158A>G (p.Ala3386=)
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser) rs375898103
NM_014363.6(SACS):c.10226C>G (p.Ser3409Ter) rs1566059895
NM_014363.6(SACS):c.10276T>C (p.Phe3426Leu)
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu) rs144179865
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.10443C>G (p.Leu3481=) rs144087359
NM_014363.6(SACS):c.10461_10462delinsAA (p.Asn3487_Leu3488delinsLysIle) rs886043821
NM_014363.6(SACS):c.10470T>C (p.Tyr3490=) rs755590920
NM_014363.6(SACS):c.10572A>G (p.Leu3524=) rs878854976
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939
NM_014363.6(SACS):c.1061C>G (p.Thr354Ser) rs1425519295
NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys) rs747013127
NM_014363.6(SACS):c.10659T>C (p.Pro3553=) rs1161865880
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.10731A>C (p.Thr3577=) rs759287298
NM_014363.6(SACS):c.10731A>G (p.Thr3577=)
NM_014363.6(SACS):c.10737G>A (p.Met3579Ile) rs199970621
NM_014363.6(SACS):c.10787C>T (p.Ser3596Phe)
NM_014363.6(SACS):c.1081A>G (p.Lys361Glu) rs377027736
NM_014363.6(SACS):c.10822_10823del (p.Ser3608fs) rs1555250082
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr) rs201505036
NM_014363.6(SACS):c.10972C>T (p.Arg3658Trp) rs115155117
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856
NM_014363.6(SACS):c.10983G>A (p.Ala3661=)
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala) rs17078601
NM_014363.6(SACS):c.11048A>G (p.Asn3683Ser)
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln) rs148925505
NM_014363.6(SACS):c.11091C>T (p.Leu3697=) rs369430972
NM_014363.6(SACS):c.110G>A (p.Arg37His) rs866539724
NM_014363.6(SACS):c.11109C>T (p.Ser3703=)
NM_014363.6(SACS):c.11152G>A (p.Glu3718Lys) rs750040557
NM_014363.6(SACS):c.11161G>A (p.Gly3721Ser) rs780789569
NM_014363.6(SACS):c.11215G>A (p.Val3739Ile) rs1027336196
NM_014363.6(SACS):c.11221C>T (p.Leu3741=) rs1190212363
NM_014363.6(SACS):c.11232T>A (p.Pro3744=) rs1593122516
NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser)
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs) rs1400601705
NM_014363.6(SACS):c.11277G>T (p.Thr3759=) rs777278208
NM_014363.6(SACS):c.11301A>T (p.Lys3767Asn) rs762041995
NM_014363.6(SACS):c.11302A>G (p.Thr3768Ala) rs774463808
NM_014363.6(SACS):c.11309C>G (p.Ala3770Gly) rs1170997950
NM_014363.6(SACS):c.11343T>C (p.Ser3781=) rs372697823
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter) rs565203731
NM_014363.6(SACS):c.11380G>T (p.Val3794Phe) rs753844954
NM_014363.6(SACS):c.11428G>A (p.Glu3810Lys)
NM_014363.6(SACS):c.11703T>C (p.Asn3901=) rs146154135
NM_014363.6(SACS):c.11712C>T (p.Asp3904=) rs1593121789
NM_014363.6(SACS):c.11715T>C (p.Leu3905=) rs1593121777
NM_014363.6(SACS):c.11718G>A (p.Ala3906=) rs373803461
NM_014363.6(SACS):c.11737G>C (p.Asp3913His) rs746782589
NM_014363.6(SACS):c.11766A>G (p.Leu3922=) rs1593121687
NM_014363.6(SACS):c.11781G>A (p.Ala3927=) rs369998705
NM_014363.6(SACS):c.117C>T (p.Phe39=) rs1274730877
NM_014363.6(SACS):c.11853A>G (p.Leu3951=)
NM_014363.6(SACS):c.11887A>G (p.Met3963Val)
NM_014363.6(SACS):c.11899C>G (p.Gln3967Glu) rs1261408099
NM_014363.6(SACS):c.11914C>T (p.Arg3972Ter)
NM_014363.6(SACS):c.11942A>G (p.Gln3981Arg) rs747314113
NM_014363.6(SACS):c.11967T>A (p.Val3989=) rs764921350
NM_014363.6(SACS):c.12028C>T (p.Gln4010Ter) rs148297332
NM_014363.6(SACS):c.1202G>A (p.Arg401Gln) rs749599838
NM_014363.6(SACS):c.12077C>A (p.Ala4026Asp)
NM_014363.6(SACS):c.12130G>C (p.Gly4044Arg)
NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu) rs147013767
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) rs281865120
NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr)
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.12304T>C (p.Leu4102=) rs2737699
NM_014363.6(SACS):c.12367A>G (p.Met4123Val) rs772068772
NM_014363.6(SACS):c.1255A>G (p.Ile419Val) rs767818359
NM_014363.6(SACS):c.12618T>C (p.Ile4206=)
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469
NM_014363.6(SACS):c.12831T>G (p.Pro4277=) rs1298221924
NM_014363.6(SACS):c.12913G>T (p.Glu4305Ter) rs376376974
NM_014363.6(SACS):c.12981_12984del (p.Ile4328fs)
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys) rs749383532
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn) rs372359781
NM_014363.6(SACS):c.1310C>T (p.Thr437Met) rs199657817
NM_014363.6(SACS):c.13110A>G (p.Gln4370=) rs1593119713
NM_014363.6(SACS):c.13231G>A (p.Glu4411Lys)
NM_014363.6(SACS):c.13273G>A (p.Gly4425Arg) rs754693143
NM_014363.6(SACS):c.1332A>G (p.Ala444=) rs1039811925
NM_014363.6(SACS):c.13536T>C (p.Tyr4512=) rs1593118995
NM_014363.6(SACS):c.13590T>C (p.Gly4530=)
NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser) rs1555249106
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952
NM_014363.6(SACS):c.13738_13739del (p.Ter4580LysextTer?) rs776682685
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954
NM_014363.6(SACS):c.1378C>T (p.Leu460Phe) rs145213666
NM_014363.6(SACS):c.1387C>A (p.His463Asn)
NM_014363.6(SACS):c.1391T>G (p.Ile464Ser) rs1593144937
NM_014363.6(SACS):c.1434A>G (p.Lys478=) rs1593144899
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu) rs375875022
NM_014363.6(SACS):c.1497T>C (p.Asn499=) rs1285415188
NM_014363.6(SACS):c.1498G>A (p.Val500Ile) rs1244967438
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.1656A>G (p.Leu552=) rs1536365
NM_014363.6(SACS):c.1662C>T (p.Ser554=) rs185812845
NM_014363.6(SACS):c.1672C>T (p.Gln558Ter) rs923921184
NM_014363.6(SACS):c.171+6C>T rs3751368
NM_014363.6(SACS):c.1794G>A (p.Gly598=) rs1184294805
NM_014363.6(SACS):c.1815A>G (p.Pro605=) rs377649927
NM_014363.6(SACS):c.1839G>A (p.Gln613=) rs35840595
NM_014363.6(SACS):c.1846G>C (p.Ala616Pro) rs200437752
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.1907G>A (p.Arg636Gln) rs368944813
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.1917A>G (p.Ala639=) rs138457742
NM_014363.6(SACS):c.2021G>T (p.Gly674Val) rs770199696
NM_014363.6(SACS):c.2024A>G (p.Asn675Ser) rs146395198
NM_014363.6(SACS):c.2031C>T (p.Val677=) rs771431845
NM_014363.6(SACS):c.2034C>A (p.Pro678=) rs772289878
NM_014363.6(SACS):c.2037CTC[1] (p.Ser682del)
NM_014363.6(SACS):c.2040C>T (p.Ser680=) rs142115704
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.2146C>T (p.His716Tyr) rs146852400
NM_014363.6(SACS):c.2148C>T (p.His716=) rs780789330
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.2233C>T (p.Arg745Cys) rs536614181
NM_014363.6(SACS):c.2234G>A (p.Arg745His) rs143677534
NM_014363.6(SACS):c.2289A>G (p.Gln763=) rs765734527
NM_014363.6(SACS):c.2423T>C (p.Leu808Pro)
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.2460C>G (p.Leu820=) rs761330691
NM_014363.6(SACS):c.2471C>T (p.Ser824Leu) rs762821420
NM_014363.6(SACS):c.2475dup (p.Val826fs) rs1555252909
NM_014363.6(SACS):c.247T>C (p.Leu83=) rs1470292816
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys) rs143433500
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958
NM_014363.6(SACS):c.2585C>T (p.Pro862Leu)
NM_014363.6(SACS):c.2599T>C (p.Tyr867His) rs774682589
NM_014363.6(SACS):c.260-9G>A rs376676263
NM_014363.6(SACS):c.2602A>G (p.Ile868Val) rs142284018
NM_014363.6(SACS):c.2611C>T (p.Pro871Ser) rs370103461
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.2686C>T (p.Leu896Phe) rs760556327
NM_014363.6(SACS):c.2776A>G (p.Ile926Val) rs144362131
NM_014363.6(SACS):c.279G>A (p.Thr93=) rs373415912
NM_014363.6(SACS):c.27C>G (p.Val9=) rs912218064
NM_014363.6(SACS):c.2806C>A (p.Gln936Lys)
NM_014363.6(SACS):c.2886_2887del (p.Ser963fs) rs1326359185
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.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.2997T>A (p.Ile999=)
NM_014363.6(SACS):c.3017A>G (p.His1006Arg) rs368149368
NM_014363.6(SACS):c.3042A>G (p.Leu1014=) rs141982796
NM_014363.6(SACS):c.3052G>A (p.Glu1018Lys)
NM_014363.6(SACS):c.3060A>C (p.Leu1020=) rs746764976
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.3147A>T (p.Ser1049=) rs1172279475
NM_014363.6(SACS):c.3258C>T (p.Ser1086=) rs1593132899
NM_014363.6(SACS):c.3288C>T (p.Ala1096=) rs966965221
NM_014363.6(SACS):c.3292C>T (p.Leu1098Phe) rs1593132851
NM_014363.6(SACS):c.3298_3301del (p.Glu1100fs)
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.3506G>C (p.Gly1169Ala) rs1443000762
NM_014363.6(SACS):c.3693T>C (p.Val1231=) rs1593132311
NM_014363.6(SACS):c.3700T>A (p.Trp1234Arg) rs1192682879
NM_014363.6(SACS):c.3741A>G (p.Gln1247=) rs763977282
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr) rs76872266
NM_014363.6(SACS):c.382_383del (p.Glu128fs)
NM_014363.6(SACS):c.3881C>T (p.Pro1294Leu) rs1593132075
NM_014363.6(SACS):c.3915T>C (p.His1305=) rs767598017
NM_014363.6(SACS):c.3918T>C (p.Asn1306=) rs774765353
NM_014363.6(SACS):c.399T>C (p.Tyr133=) rs755837406
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611
NM_014363.6(SACS):c.4117_4118delinsCT (p.Ala1373Leu) rs797045938
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val) rs61548169
NM_014363.6(SACS):c.414C>G (p.Tyr138Ter) rs199474695
NM_014363.6(SACS):c.4188C>T (p.His1396=) rs61754477
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter) rs867249938
NM_014363.6(SACS):c.4255A>G (p.Ile1419Val)
NM_014363.6(SACS):c.4265_4274dup (p.Ile1426_Pro1427insAlaTer) rs1555252433
NM_014363.6(SACS):c.4279C>A (p.Pro1427Thr) rs527513599
NM_014363.6(SACS):c.4299G>A (p.Trp1433Ter)
NM_014363.6(SACS):c.4302A>G (p.Leu1434=) rs34559250
NM_014363.6(SACS):c.4318A>G (p.Ser1440Gly) rs1172044277
NM_014363.6(SACS):c.432G>T (p.Trp144Cys) rs368570790
NM_014363.6(SACS):c.434C>G (p.Ser145Ter) rs994374354
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.4522A>C (p.Asn1508His) rs144653411
NM_014363.6(SACS):c.4598C>G (p.Ser1533Ter) rs886041813
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.4628A>G (p.Glu1543Gly) rs370324250
NM_014363.6(SACS):c.4639A>T (p.Arg1547Trp) rs772907934
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.477C>T (p.Tyr159=)
NM_014363.6(SACS):c.47G>T (p.Gly16Val) rs886050090
NM_014363.6(SACS):c.482A>G (p.Asn161Ser)
NM_014363.6(SACS):c.4840T>C (p.Phe1614Leu)
NM_014363.6(SACS):c.4877_4880del (p.Gly1626fs) rs757872635
NM_014363.6(SACS):c.4899A>T (p.Val1633=)
NM_014363.6(SACS):c.4911C>A (p.Tyr1637Ter)
NM_014363.6(SACS):c.4913G>A (p.Ser1638Asn)
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.4971T>C (p.Ser1657=) rs1593130707
NM_014363.6(SACS):c.4985C>T (p.Thr1662Met) rs139387396
NM_014363.6(SACS):c.5065_5066del (p.Ser1689fs) rs1372213267
NM_014363.6(SACS):c.5079G>A (p.Met1693Ile) rs775069857
NM_014363.6(SACS):c.5151dup (p.Ser1718fs) rs754439135
NM_014363.6(SACS):c.5263_5264del (p.Lys1755fs) rs199474696
NM_014363.6(SACS):c.5337G>A (p.Ser1779=)
NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn) rs144715822
NM_014363.6(SACS):c.540A>G (p.Lys180=) rs999767217
NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter)
NM_014363.6(SACS):c.5431A>T (p.Lys1811Ter) rs1085307587
NM_014363.6(SACS):c.5433A>G (p.Lys1811=) rs1162334138
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg) rs376680832
NM_014363.6(SACS):c.5557C>T (p.Leu1853=)
NM_014363.6(SACS):c.5595A>C (p.Pro1865=) rs777869317
NM_014363.6(SACS):c.5671G>C (p.Ala1891Pro)
NM_014363.6(SACS):c.5711C>G (p.Thr1904Arg) rs758570844
NM_014363.6(SACS):c.5711C>T (p.Thr1904Ile) rs758570844
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.5832A>G (p.Ala1944=) rs374169472
NM_014363.6(SACS):c.5835A>G (p.Val1945=) rs1593129510
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.5932G>A (p.Val1978Ile) rs373812430
NM_014363.6(SACS):c.593A>G (p.Tyr198Cys) rs1461096954
NM_014363.6(SACS):c.5971G>A (p.Val1991Ile)
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val) rs537408260
NM_014363.6(SACS):c.6044A>C (p.Tyr2015Ser) rs1131691664
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn) rs35865691
NM_014363.6(SACS):c.6178G>C (p.Val2060Leu) rs373226693
NM_014363.6(SACS):c.6195T>C (p.Ile2065=) rs4143768
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.6290del (p.Cys2097fs)
NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser) rs80132141
NM_014363.6(SACS):c.6343C>T (p.His2115Tyr) rs757161092
NM_014363.6(SACS):c.6348C>T (p.Pro2116=) rs375619621
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys) rs754033201
NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu) rs755723511
NM_014363.6(SACS):c.6406A>T (p.Thr2136Ser) rs1566066009
NM_014363.6(SACS):c.6435G>C (p.Leu2145Phe) rs1593128652
NM_014363.6(SACS):c.6456T>C (p.Gly2152=) rs747925179
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.6518T>C (p.Ile2173Thr) rs368624188
NM_014363.6(SACS):c.6632A>G (p.Gln2211Arg)
NM_014363.6(SACS):c.6702T>A (p.Phe2234Leu)
NM_014363.6(SACS):c.6730G>A (p.Asp2244Asn)
NM_014363.6(SACS):c.6776C>T (p.Pro2259Leu) rs150098233
NM_014363.6(SACS):c.6778A>G (p.Ile2260Val)
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795
NM_014363.6(SACS):c.6859A>C (p.Lys2287Gln) rs1397588851
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.696T>A (p.Asn232Lys) rs2031640
NM_014363.6(SACS):c.6993A>T (p.Glu2331Asp) rs759201960
NM_014363.6(SACS):c.699del (p.Asp235fs)
NM_014363.6(SACS):c.712A>T (p.Lys238Ter) rs764585158
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys) rs61754478
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.7162_7163del (p.Thr2388fs) rs1555251539
NM_014363.6(SACS):c.7171G>A (p.Val2391Met) rs760087813
NM_014363.6(SACS):c.7203T>C (p.Ala2401=) rs1400244997
NM_014363.6(SACS):c.7210T>G (p.Leu2404Val) rs1593127760
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.7282A>G (p.Ile2428Val) rs1007936574
NM_014363.6(SACS):c.7288G>A (p.Glu2430Lys) rs201798841
NM_014363.6(SACS):c.7374del (p.Met2459fs)
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser) rs78239814
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu)
NM_014363.6(SACS):c.7406A>G (p.Asn2469Ser)
NM_014363.6(SACS):c.7466C>A (p.Pro2489His) rs766553685
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter) rs281865118
NM_014363.6(SACS):c.751G>A (p.Val251Ile)
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr) rs111920492
NM_014363.6(SACS):c.7644G>C (p.Glu2548Asp)
NM_014363.6(SACS):c.7742C>T (p.Ala2581Val) rs866333277
NM_014363.6(SACS):c.7819C>A (p.Leu2607Ile)
NM_014363.6(SACS):c.7940T>A (p.Ile2647Asn) rs934642310
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_014363.6(SACS):c.8080A>T (p.Asn2694Tyr) rs1390533003
NM_014363.6(SACS):c.810T>G (p.Phe270Leu) rs116907814
NM_014363.6(SACS):c.8127A>C (p.Lys2709Asn) rs78827970
NM_014363.6(SACS):c.8133G>A (p.Ser2711=) rs143386746
NM_014363.6(SACS):c.8142G>A (p.Ser2714=) rs530250252
NM_014363.6(SACS):c.8166G>T (p.Met2722Ile)
NM_014363.6(SACS):c.8192G>A (p.Arg2731His)
NM_014363.6(SACS):c.8233G>A (p.Glu2745Lys)
NM_014363.6(SACS):c.8238_8239dup (p.Ile2747fs)
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.8330G>A (p.Arg2777Lys)
NM_014363.6(SACS):c.8336A>T (p.Gln2779Leu)
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787
NM_014363.6(SACS):c.8340del (p.His2781fs) rs753958013
NM_014363.6(SACS):c.8344G>A (p.Ala2782Thr) rs61742502
NM_014363.6(SACS):c.8344_8345delinsAT (p.Ala2782Ile) rs386768924
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.8424T>C (p.Thr2808=) rs149961028
NM_014363.6(SACS):c.8451G>A (p.Thr2817=) rs749291377
NM_014363.6(SACS):c.8495T>C (p.Val2832Ala) rs1593126225
NM_014363.6(SACS):c.8538T>A (p.Thr2846=) rs1593126169
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val) rs760976439
NM_014363.6(SACS):c.8577C>T (p.His2859=) rs140016265
NM_014363.6(SACS):c.861C>T (p.Tyr287=) rs200877272
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014363.6(SACS):c.8793dup (p.Arg2932fs)
NM_014363.6(SACS):c.8799T>C (p.Tyr2933=) rs779302353
NM_014363.6(SACS):c.8836A>G (p.Asn2946Asp) rs184407783
NM_014363.6(SACS):c.8844del (p.Ile2949fs) rs281865117
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg) rs11839380
NM_014363.6(SACS):c.8880A>G (p.Leu2960=) rs1373611853
NM_014363.6(SACS):c.8889C>A (p.Phe2963Leu) rs776647599
NM_014363.6(SACS):c.8899C>A (p.Arg2967Ser) rs746834684
NM_014363.6(SACS):c.8902C>T (p.Leu2968Phe)
NM_014363.6(SACS):c.8972G>A (p.Arg2991His) rs192610957
NM_014363.6(SACS):c.909A>G (p.Ala303=) rs41315020
NM_014363.6(SACS):c.9251T>C (p.Ile3084Thr)
NM_014363.6(SACS):c.9275A>T (p.Tyr3092Phe)
NM_014363.6(SACS):c.9286G>A (p.Ala3096Thr) rs1085307569
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter) rs886041949
NM_014363.6(SACS):c.9332del (p.Asn3111fs)
NM_014363.6(SACS):c.9333T>C (p.Asn3111=) rs150532740
NM_014363.6(SACS):c.9359G>T (p.Arg3120Leu) rs569955570
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser) rs371019314
NM_014363.6(SACS):c.9465T>C (p.Leu3155=) rs1593125038
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) rs202199411
NM_014363.6(SACS):c.9519T>G (p.Phe3173Leu)
NM_014363.6(SACS):c.9537_9541del (p.Glu3179fs) rs1064796097
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu) rs137905181
NM_014363.6(SACS):c.961C>T (p.Arg321Ter) rs1175545518
NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys) rs776143384
NM_014363.6(SACS):c.9680A>C (p.Lys3227Thr) rs765635417
NM_014363.6(SACS):c.9699G>A (p.Lys3233=) rs1593124697
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.9754A>G (p.Ser3252Gly) rs1593124621
NM_014363.6(SACS):c.9822T>C (p.Thr3274=) rs771522497
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.9912C>T (p.Leu3304=) rs1593124372
NM_014363.6(SACS):c.9939A>G (p.Pro3313=) rs1593124327
NM_014363.6(SACS):c.9956_9957del (p.Lys3319fs) rs772704931
NM_014363.6(SACS):c.9981T>C (p.Ala3327=) rs2737700
NM_014363.6(SACS):c.99T>C (p.Asp33=) rs775206528

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