ClinVar Miner

List of variants in gene SACS

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Gene type:
ClinVar version:
Total variants: 1729
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HGVS dbSNP
NC_000013.11:g.(?_23353775)_(23358491_?)del
NM_014363.4(SACS):c.7276C>T rs786204750
NM_014363.5(SACS):c.[11624G>A];[7276C>T]
NM_014363.5:c.[1640C>T;1634G>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.10029A>G (p.Ala3343=)
NM_014363.6(SACS):c.10034T>C (p.Val3345Ala) rs767926148
NM_014363.6(SACS):c.10042T>C (p.Leu3348=)
NM_014363.6(SACS):c.10047A>G (p.Ser3349=) rs138909482
NM_014363.6(SACS):c.1004C>A (p.Ser335Ter) rs767435985
NM_014363.6(SACS):c.1004C>T (p.Ser335Leu) rs767435985
NM_014363.6(SACS):c.10050del (p.His3351fs) rs1555250383
NM_014363.6(SACS):c.1005G>A (p.Ser335=)
NM_014363.6(SACS):c.1005G>C (p.Ser335=)
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.10098T>C (p.His3366=)
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.10119A>G (p.Thr3373=) rs202084381
NM_014363.6(SACS):c.10122T>C (p.Phe3374=)
NM_014363.6(SACS):c.10125A>G (p.Arg3375=)
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter) rs1057517250
NM_014363.6(SACS):c.1014dup (p.Lys339Ter)
NM_014363.6(SACS):c.10158A>G (p.Ala3386=)
NM_014363.6(SACS):c.10179C>T (p.Cys3393=)
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser) rs375898103
NM_014363.6(SACS):c.10191T>C (p.His3397=)
NM_014363.6(SACS):c.10200C>T (p.Ser3400=) rs1593123933
NM_014363.6(SACS):c.10205A>G (p.Asp3402Gly) rs543563990
NM_014363.6(SACS):c.10221A>G (p.Leu3407=) rs143243372
NM_014363.6(SACS):c.10226C>G (p.Ser3409Ter) rs1566059895
NM_014363.6(SACS):c.10227A>G (p.Ser3409=) rs1593123878
NM_014363.6(SACS):c.10233G>A (p.Pro3411=)
NM_014363.6(SACS):c.10233G>T (p.Pro3411=)
NM_014363.6(SACS):c.10254C>T (p.Gly3418=)
NM_014363.6(SACS):c.1026A>T (p.Lys342Asn) rs190623423
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg) rs147317123
NM_014363.6(SACS):c.10276T>C (p.Phe3426Leu)
NM_014363.6(SACS):c.10284A>G (p.Thr3428=)
NM_014363.6(SACS):c.10290C>T (p.Tyr3430=) rs367735607
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu) rs144179865
NM_014363.6(SACS):c.10298C>G (p.Thr3433Arg) rs200991790
NM_014363.6(SACS):c.10298C>T (p.Thr3433Ile) rs200991790
NM_014363.6(SACS):c.10299A>T (p.Thr3433=)
NM_014363.6(SACS):c.10305T>C (p.Ser3435=) rs35670472
NM_014363.6(SACS):c.10311T>C (p.Pro3437=)
NM_014363.6(SACS):c.10327A>C (p.Lys3443Gln) rs768317695
NM_014363.6(SACS):c.1032G>A (p.Glu344=)
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.1035G>A (p.Arg345=)
NM_014363.6(SACS):c.10379_10383del (p.Lys3460fs) rs1555250255
NM_014363.6(SACS):c.10387T>C (p.Tyr3463His)
NM_014363.6(SACS):c.1038G>A (p.Pro346=)
NM_014363.6(SACS):c.10424_10426del (p.Glu3475del) rs1555250217
NM_014363.6(SACS):c.10438C>T (p.His3480Tyr)
NM_014363.6(SACS):c.10443C>G (p.Leu3481=) rs144087359
NM_014363.6(SACS):c.10443C>T (p.Leu3481=)
NM_014363.6(SACS):c.10461_10462delinsAA (p.Asn3487_Leu3488delinsLysIle) rs886043821
NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs) rs786204416
NM_014363.6(SACS):c.10470T>C (p.Tyr3490=) rs755590920
NM_014363.6(SACS):c.10473T>C (p.Asp3491=)
NM_014363.6(SACS):c.10479A>G (p.Lys3493=)
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.10497C>T (p.Tyr3499=)
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.10510T>C (p.Leu3504=)
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.10542G>A (p.Lys3514=)
NM_014363.6(SACS):c.10546C>T (p.Gln3516Ter) rs1593123432
NM_014363.6(SACS):c.10572A>G (p.Leu3524=) rs878854976
NM_014363.6(SACS):c.10576A>G (p.Ile3526Val) rs199881455
NM_014363.6(SACS):c.105G>A (p.Lys35=)
NM_014363.6(SACS):c.10608A>G (p.Gln3536=)
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939
NM_014363.6(SACS):c.10617T>C (p.His3539=)
NM_014363.6(SACS):c.1061C>G (p.Thr354Ser) rs1425519295
NM_014363.6(SACS):c.10620C>T (p.Phe3540=) rs192339917
NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys) rs747013127
NM_014363.6(SACS):c.10634_10635del (p.Val3545fs)
NM_014363.6(SACS):c.10635G>C (p.Val3545=)
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.10656T>C (p.Leu3552=)
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.1066A>G (p.Ile356Val) rs148286091
NM_014363.6(SACS):c.10671dup (p.Ile3558fs)
NM_014363.6(SACS):c.10675C>G (p.Pro3559Ala) rs767704103
NM_014363.6(SACS):c.10680T>C (p.Asn3560=)
NM_014363.6(SACS):c.10686C>T (p.Phe3562=)
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.10708A>T (p.Ile3570Leu) rs878854977
NM_014363.6(SACS):c.10709T>C (p.Ile3570Thr)
NM_014363.6(SACS):c.10716C>G (p.Pro3572=) rs886050077
NM_014363.6(SACS):c.10724A>T (p.His3575Leu)
NM_014363.6(SACS):c.10725T>C (p.His3575=)
NM_014363.6(SACS):c.10728T>C (p.Val3576=)
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.10755C>T (p.Phe3585=)
NM_014363.6(SACS):c.10755_10757del (p.Phe3585del) rs771277098
NM_014363.6(SACS):c.10780A>G (p.Ile3594Val)
NM_014363.6(SACS):c.10780A>T (p.Ile3594Leu)
NM_014363.6(SACS):c.10787C>T (p.Ser3596Phe)
NM_014363.6(SACS):c.10790A>G (p.Gln3597Arg)
NM_014363.6(SACS):c.10797G>A (p.Gln3599=)
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.10830G>A (p.Arg3610=)
NM_014363.6(SACS):c.1083A>G (p.Lys361=)
NM_014363.6(SACS):c.10847G>A (p.Trp3616Ter) rs1365858851
NM_014363.6(SACS):c.10854del (p.Glu3619fs) rs1057516773
NM_014363.6(SACS):c.10855G>T (p.Glu3619Ter)
NM_014363.6(SACS):c.10859C>T (p.Thr3620Ile)
NM_014363.6(SACS):c.1085del (p.Lys362fs) rs1057517242
NM_014363.6(SACS):c.10862T>C (p.Leu3621Ser) rs1397997962
NM_014363.6(SACS):c.10864C>T (p.Gln3622Ter) rs1057516578
NM_014363.6(SACS):c.10881C>T (p.Ile3627=)
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.10915T>C (p.Leu3639=)
NM_014363.6(SACS):c.10932dup (p.Leu3645fs)
NM_014363.6(SACS):c.10933C>T (p.Leu3645=)
NM_014363.6(SACS):c.10933del (p.Phe3644_Leu3645insTer) rs1566058677
NM_014363.6(SACS):c.10939G>T (p.Glu3647Ter) rs1156566314
NM_014363.6(SACS):c.10948T>C (p.Leu3650=)
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.10968T>C (p.Pro3656=)
NM_014363.6(SACS):c.10972C>T (p.Arg3658Trp) rs115155117
NM_014363.6(SACS):c.10980C>T (p.Pro3660=) rs141353693
NM_014363.6(SACS):c.10981G>A (p.Ala3661Thr)
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.1101C>T (p.Asn367=)
NM_014363.6(SACS):c.11027C>T (p.Thr3676Ile)
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala) rs17078601
NM_014363.6(SACS):c.11037T>C (p.Leu3679=)
NM_014363.6(SACS):c.11039_11040insTA (p.Phe3682fs) rs1555250016
NM_014363.6(SACS):c.11042dup (p.Phe3682fs) rs756597098
NM_014363.6(SACS):c.11048A>G (p.Asn3683Ser)
NM_014363.6(SACS):c.11049T>C (p.Asn3683=) rs773770705
NM_014363.6(SACS):c.11064T>C (p.Asn3688=)
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln) rs148925505
NM_014363.6(SACS):c.11079A>G (p.Gln3693=)
NM_014363.6(SACS):c.1107C>T (p.Thr369=)
NM_014363.6(SACS):c.11081dup (p.Cys3694fs) rs1057516856
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.11100dup (p.Trp3701fs)
NM_014363.6(SACS):c.11101T>C (p.Trp3701Arg) rs773588375
NM_014363.6(SACS):c.11109C>T (p.Ser3703=)
NM_014363.6(SACS):c.11109del (p.Cys3704fs)
NM_014363.6(SACS):c.11116A>G (p.Ile3706Val)
NM_014363.6(SACS):c.11136del (p.Pro3713_Leu3714insTer)
NM_014363.6(SACS):c.11149_11150insT (p.Lys3717fs) rs1555249977
NM_014363.6(SACS):c.11150A>T (p.Lys3717Ile)
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.11166_11167del (p.Ser3722fs)
NM_014363.6(SACS):c.11175T>C (p.Gly3725=)
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.1119T>C (p.Tyr373=) rs752597088
NM_014363.6(SACS):c.11214T>C (p.Asn3738=)
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.1122C>T (p.His374=)
NM_014363.6(SACS):c.11232T>A (p.Pro3744=) rs1593122516
NM_014363.6(SACS):c.11244A>G (p.Val3748=)
NM_014363.6(SACS):c.11247C>T (p.Ile3749=)
NM_014363.6(SACS):c.11247_11250del (p.Asn3750fs) rs753205260
NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser)
NM_014363.6(SACS):c.11257A>G (p.Arg3753Gly)
NM_014363.6(SACS):c.11264T>C (p.Ile3755Thr)
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.11280G>A (p.Thr3760=) rs193116488
NM_014363.6(SACS):c.11291A>C (p.Glu3764Ala) rs1593122374
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.11304T>C (p.Thr3768=)
NM_014363.6(SACS):c.11309C>G (p.Ala3770Gly) rs1170997950
NM_014363.6(SACS):c.11310A>G (p.Ala3770=)
NM_014363.6(SACS):c.11316C>T (p.Val3772=)
NM_014363.6(SACS):c.11319_11321del (p.Arg3774del)
NM_014363.6(SACS):c.11327T>C (p.Ile3776Thr) rs145188410
NM_014363.6(SACS):c.11343T>C (p.Ser3781=) rs372697823
NM_014363.6(SACS):c.11348A>G (p.Glu3783Gly) rs1048404551
NM_014363.6(SACS):c.11373G>A (p.Leu3791=)
NM_014363.6(SACS):c.11373dup (p.Arg3792fs) rs1555249904
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter) rs565203731
NM_014363.6(SACS):c.11376A>G (p.Arg3792=)
NM_014363.6(SACS):c.1137dup (p.Glu380fs) rs1057516987
NM_014363.6(SACS):c.11380G>T (p.Val3794Phe) rs753844954
NM_014363.6(SACS):c.11385T>G (p.Ala3795=)
NM_014363.6(SACS):c.11409G>T (p.Trp3803Cys) rs886050075
NM_014363.6(SACS):c.11416C>T (p.Leu3806=)
NM_014363.6(SACS):c.11428G>A (p.Glu3810Lys)
NM_014363.6(SACS):c.11428dup (p.Glu3810fs) rs1555249894
NM_014363.6(SACS):c.11473T>C (p.Leu3825=)
NM_014363.6(SACS):c.11475G>A (p.Leu3825=)
NM_014363.6(SACS):c.11484A>G (p.Leu3828=) rs747807250
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.11532T>C (p.Thr3844=) rs756128473
NM_014363.6(SACS):c.11535A>G (p.Glu3845=)
NM_014363.6(SACS):c.11559T>C (p.Tyr3853=)
NM_014363.6(SACS):c.11565A>G (p.Glu3855=)
NM_014363.6(SACS):c.11568G>C (p.Val3856=)
NM_014363.6(SACS):c.11576G>A (p.Arg3859His)
NM_014363.6(SACS):c.11598C>A (p.Gly3866=)
NM_014363.6(SACS):c.11604A>G (p.Gln3868=)
NM_014363.6(SACS):c.11606T>A (p.Leu3869Ter)
NM_014363.6(SACS):c.11619A>G (p.Glu3873=)
NM_014363.6(SACS):c.1161A>T (p.Ala387=)
NM_014363.6(SACS):c.11627_11628del (p.Thr3876fs) rs1555249826
NM_014363.6(SACS):c.11628A>C (p.Thr3876=)
NM_014363.6(SACS):c.11637_11638del (p.Arg3879fs) rs1593121924
NM_014363.6(SACS):c.11655C>T (p.Phe3885=)
NM_014363.6(SACS):c.11664A>G (p.Leu3888=) rs752876736
NM_014363.6(SACS):c.11674dup (p.Ser3892fs)
NM_014363.6(SACS):c.11679C>T (p.Val3893=)
NM_014363.6(SACS):c.1167A>G (p.Lys389=)
NM_014363.6(SACS):c.11684T>G (p.Val3895Gly)
NM_014363.6(SACS):c.11688G>A (p.Arg3896=) rs116791509
NM_014363.6(SACS):c.11697C>T (p.Leu3899=)
NM_014363.6(SACS):c.11703T>C (p.Asn3901=) rs146154135
NM_014363.6(SACS):c.11706A>G (p.Val3902=)
NM_014363.6(SACS):c.11707C>T (p.Arg3903Ter) rs774906736
NM_014363.6(SACS):c.11712C>T (p.Asp3904=) rs1593121789
NM_014363.6(SACS):c.11713del (p.Ala3906fs) rs1555249797
NM_014363.6(SACS):c.11715T>C (p.Leu3905=) rs1593121777
NM_014363.6(SACS):c.11717C>T (p.Ala3906Val) rs375961779
NM_014363.6(SACS):c.11718G>A (p.Ala3906=) rs373803461
NM_014363.6(SACS):c.11731del (p.Ser3911fs) rs1057517232
NM_014363.6(SACS):c.11737G>C (p.Asp3913His) rs746782589
NM_014363.6(SACS):c.11738A>T (p.Asp3913Val) rs1236705431
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.11746T>C (p.Leu3916=)
NM_014363.6(SACS):c.11748G>A (p.Leu3916=)
NM_014363.6(SACS):c.11763C>T (p.Ile3921=) rs749093421
NM_014363.6(SACS):c.11766A>G (p.Leu3922=) rs1593121687
NM_014363.6(SACS):c.11772dup (p.Asp3925Ter) rs1555249789
NM_014363.6(SACS):c.11775C>T (p.Asp3925=)
NM_014363.6(SACS):c.11778T>C (p.Asp3926=)
NM_014363.6(SACS):c.11780C>T (p.Ala3927Val)
NM_014363.6(SACS):c.11781G>A (p.Ala3927=) rs369998705
NM_014363.6(SACS):c.11792A>G (p.Lys3931Arg) rs764554878
NM_014363.6(SACS):c.117C>T (p.Phe39=) rs1274730877
NM_014363.6(SACS):c.11841C>T (p.Ser3947=)
NM_014363.6(SACS):c.11853A>G (p.Leu3951=)
NM_014363.6(SACS):c.11856G>A (p.Gly3952=)
NM_014363.6(SACS):c.11857_11859del (p.Lys3953del) rs1555249772
NM_014363.6(SACS):c.11877T>G (p.Thr3959=)
NM_014363.6(SACS):c.11877dup (p.Lys3960Ter) rs1555249766
NM_014363.6(SACS):c.11884A>T (p.Ile3962Leu) rs746953932
NM_014363.6(SACS):c.11887A>G (p.Met3963Val)
NM_014363.6(SACS):c.11899C>G (p.Gln3967Glu) rs1261408099
NM_014363.6(SACS):c.1189_1190del (p.Ser397fs) rs1057516625
NM_014363.6(SACS):c.11901A>G (p.Gln3967=) rs572068106
NM_014363.6(SACS):c.11907_11930delinsA (p.Arg3970fs) rs1593121507
NM_014363.6(SACS):c.11914C>T (p.Arg3972Ter)
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.11942A>G (p.Gln3981Arg) rs747314113
NM_014363.6(SACS):c.11967T>A (p.Val3989=) rs764921350
NM_014363.6(SACS):c.11982G>A (p.Ala3994=) rs780117352
NM_014363.6(SACS):c.11985G>A (p.Leu3995=)
NM_014363.6(SACS):c.11991T>C (p.Ser3997=)
NM_014363.6(SACS):c.12004T>C (p.Leu4002=)
NM_014363.6(SACS):c.12014T>C (p.Leu4005Pro)
NM_014363.6(SACS):c.12018G>A (p.Leu4006=) rs774074913
NM_014363.6(SACS):c.1201C>T (p.Arg401Ter)
NM_014363.6(SACS):c.12020C>T (p.Ser4007Phe) rs1314135259
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.12035T>C (p.Ile4012Thr)
NM_014363.6(SACS):c.12039A>C (p.Thr4013=)
NM_014363.6(SACS):c.12054del (p.Ile4018_Met4019insTer) rs1555249695
NM_014363.6(SACS):c.12059A>G (p.Lys4020Arg) rs1328721442
NM_014363.6(SACS):c.12063T>C (p.His4021=) rs886050074
NM_014363.6(SACS):c.12069T>C (p.Asn4023=)
NM_014363.6(SACS):c.12073A>G (p.Asn4025Asp)
NM_014363.6(SACS):c.12075T>G (p.Asn4025Lys)
NM_014363.6(SACS):c.12077C>A (p.Ala4026Asp)
NM_014363.6(SACS):c.12078T>A (p.Ala4026=)
NM_014363.6(SACS):c.12084G>A (p.Leu4028=)
NM_014363.6(SACS):c.12099A>G (p.Lys4033=)
NM_014363.6(SACS):c.12102C>G (p.Ala4034=) rs1359075857
NM_014363.6(SACS):c.12106A>T (p.Arg4036Ter)
NM_014363.6(SACS):c.12114C>T (p.Cys4038=)
NM_014363.6(SACS):c.12130G>C (p.Gly4044Arg)
NM_014363.6(SACS):c.12133T>C (p.Leu4045=)
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.12162A>G (p.Gln4054=)
NM_014363.6(SACS):c.12168A>G (p.Thr4056=)
NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr)
NM_014363.6(SACS):c.12195T>C (p.Ile4065=)
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.12219T>C (p.Phe4073=)
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.12242A>G (p.Asn4081Ser) rs1060503432
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.1227T>C (p.Ser409=)
NM_014363.6(SACS):c.12282A>G (p.Lys4094=)
NM_014363.6(SACS):c.12285C>T (p.Asp4095=)
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs) rs1057516365
NM_014363.6(SACS):c.12294C>T (p.Phe4098=)
NM_014363.6(SACS):c.12297G>T (p.Leu4099=)
NM_014363.6(SACS):c.1229T>C (p.Leu410Ser)
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.12333C>T (p.Asp4111=)
NM_014363.6(SACS):c.12348C>T (p.Asp4116=)
NM_014363.6(SACS):c.12354A>G (p.Ser4118=)
NM_014363.6(SACS):c.12367A>G (p.Met4123Val) rs772068772
NM_014363.6(SACS):c.12375A>T (p.Gly4125=)
NM_014363.6(SACS):c.12399T>C (p.Gly4133=)
NM_014363.6(SACS):c.12407_12411del (p.Leu4136fs) rs1555249607
NM_014363.6(SACS):c.1240C>T (p.Leu414=)
NM_014363.6(SACS):c.12429T>C (p.Tyr4143=)
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.12451C>T (p.Leu4151=)
NM_014363.6(SACS):c.12500C>T (p.Thr4167Ile)
NM_014363.6(SACS):c.12507T>C (p.Leu4169=)
NM_014363.6(SACS):c.12525T>G (p.Val4175=) rs758466161
NM_014363.6(SACS):c.12536del (p.Gly4179fs)
NM_014363.6(SACS):c.12538G>T (p.Glu4180Ter)
NM_014363.6(SACS):c.12540del (p.Glu4180fs) rs1057516347
NM_014363.6(SACS):c.1254A>C (p.Pro418=)
NM_014363.6(SACS):c.1254A>G (p.Pro418=)
NM_014363.6(SACS):c.1255A>G (p.Ile419Val) rs767818359
NM_014363.6(SACS):c.12585A>G (p.Gly4195=) rs200305087
NM_014363.6(SACS):c.12597A>G (p.Pro4199=) rs112630127
NM_014363.6(SACS):c.1259T>C (p.Ile420Thr)
NM_014363.6(SACS):c.12603C>T (p.Tyr4201=)
NM_014363.6(SACS):c.12606A>C (p.Thr4202=) rs780674369
NM_014363.6(SACS):c.12609T>C (p.Tyr4203=)
NM_014363.6(SACS):c.12612A>G (p.Ala4204=)
NM_014363.6(SACS):c.12618T>C (p.Ile4206=)
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.12661C>T (p.Leu4221=)
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.12693T>C (p.Tyr4231=)
NM_014363.6(SACS):c.12700T>C (p.Tyr4234His) rs886050073
NM_014363.6(SACS):c.12702T>C (p.Tyr4234=)
NM_014363.6(SACS):c.12744T>C (p.Pro4248=)
NM_014363.6(SACS):c.12747G>A (p.Glu4249=)
NM_014363.6(SACS):c.12753C>T (p.Ser4251=)
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.12820A>G (p.Arg4274Gly) rs1566055596
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.12831T>G (p.Pro4277=) rs1298221924
NM_014363.6(SACS):c.12833C>T (p.Pro4278Leu)
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.1284C>T (p.Ser428=)
NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs) rs786204628
NM_014363.6(SACS):c.12858C>T (p.His4286=)
NM_014363.6(SACS):c.12867T>C (p.Ser4289=)
NM_014363.6(SACS):c.12873A>G (p.Lys4291=)
NM_014363.6(SACS):c.12882C>T (p.Ser4294=)
NM_014363.6(SACS):c.12884C>T (p.Pro4295Leu) rs781029021
NM_014363.6(SACS):c.12905C>A (p.Ser4302Tyr) rs778808568
NM_014363.6(SACS):c.12908T>A (p.Leu4303Ter) rs1566055368
NM_014363.6(SACS):c.12909A>G (p.Leu4303=)
NM_014363.6(SACS):c.12913G>T (p.Glu4305Ter) rs376376974
NM_014363.6(SACS):c.12921A>G (p.Leu4307=)
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs) rs1057517294
NM_014363.6(SACS):c.12927A>G (p.Glu4309=)
NM_014363.6(SACS):c.12951A>G (p.Ala4317=)
NM_014363.6(SACS):c.12969G>A (p.Ser4323=) rs745807927
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.12981_12984del (p.Ile4328fs)
NM_014363.6(SACS):c.12991C>T (p.Arg4331Trp) rs1555249369
NM_014363.6(SACS):c.12G>A (p.Lys4=)
NM_014363.6(SACS):c.13009C>G (p.His4337Asp) rs1555249362
NM_014363.6(SACS):c.13014T>C (p.Pro4338=)
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys) rs749383532
NM_014363.6(SACS):c.1302A>G (p.Lys434=)
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.13064del (p.Leu4355fs)
NM_014363.6(SACS):c.13092A>G (p.Lys4364=)
NM_014363.6(SACS):c.13106A>G (p.Asp4369Gly) rs770895110
NM_014363.6(SACS):c.1310C>G (p.Thr437Arg)
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.13119C>T (p.Asp4373=) rs368124828
NM_014363.6(SACS):c.1311G>A (p.Thr437=) rs140671039
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.13149A>G (p.Ser4383=)
NM_014363.6(SACS):c.13152A>G (p.Ala4384=)
NM_014363.6(SACS):c.13156C>T (p.Arg4386Ter)
NM_014363.6(SACS):c.13164G>A (p.Gln4388=)
NM_014363.6(SACS):c.13176C>T (p.Tyr4392=)
NM_014363.6(SACS):c.13178_13185dup (p.Arg4396fs) rs1555249326
NM_014363.6(SACS):c.13191C>T (p.Phe4397=)
NM_014363.6(SACS):c.13208_13209del (p.Gln4403fs)
NM_014363.6(SACS):c.13214C>T (p.Ala4405Val)
NM_014363.6(SACS):c.13218G>A (p.Thr4406=)
NM_014363.6(SACS):c.13225A>G (p.Lys4409Glu)
NM_014363.6(SACS):c.13227A>G (p.Lys4409=)
NM_014363.6(SACS):c.13231G>A (p.Glu4411Lys)
NM_014363.6(SACS):c.13248C>T (p.Asn4416=)
NM_014363.6(SACS):c.13252_13253del (p.Glu4418fs)
NM_014363.6(SACS):c.13269A>T (p.Ser4423=) rs1180908312
NM_014363.6(SACS):c.13271C>T (p.Ala4424Val)
NM_014363.6(SACS):c.13272C>T (p.Ala4424=) rs567495567
NM_014363.6(SACS):c.13273G>A (p.Gly4425Arg) rs754693143
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.13305T>C (p.Pro4435=)
NM_014363.6(SACS):c.1331C>G (p.Ala444Gly)
NM_014363.6(SACS):c.13320G>A (p.Ser4440=)
NM_014363.6(SACS):c.1332A>G (p.Ala444=) rs1039811925
NM_014363.6(SACS):c.13338A>G (p.Glu4446=)
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.13374C>T (p.Phe4458=) rs148914536
NM_014363.6(SACS):c.13378_13379delinsTA (p.Ala4460Tyr) rs1566054479
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.13419G>A (p.Val4473=)
NM_014363.6(SACS):c.13443C>G (p.Thr4481=) rs201439638
NM_014363.6(SACS):c.13454T>C (p.Leu4485Ser) rs1566054340
NM_014363.6(SACS):c.13473T>C (p.Ala4491=)
NM_014363.6(SACS):c.13474G>A (p.Val4492Met) rs774647600
NM_014363.6(SACS):c.13476G>C (p.Val4492=)
NM_014363.6(SACS):c.13482A>C (p.Gly4494=)
NM_014363.6(SACS):c.134C>T (p.Pro45Leu) rs1033188876
NM_014363.6(SACS):c.13500A>G (p.Val4500=)
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.13533A>G (p.Glu4511=)
NM_014363.6(SACS):c.13536T>C (p.Tyr4512=) rs1593118995
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.13569T>C (p.Val4523=)
NM_014363.6(SACS):c.13574C>G (p.Thr4525Arg) rs750412600
NM_014363.6(SACS):c.13588G>T (p.Gly4530Cys)
NM_014363.6(SACS):c.1358del (p.Gly453fs)
NM_014363.6(SACS):c.13590T>C (p.Gly4530=)
NM_014363.6(SACS):c.135G>C (p.Pro45=)
NM_014363.6(SACS):c.13614C>A (p.Tyr4538Ter)
NM_014363.6(SACS):c.13614C>G (p.Tyr4538Ter) rs927804920
NM_014363.6(SACS):c.13614C>T (p.Tyr4538=)
NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser) rs1555249106
NM_014363.6(SACS):c.13645A>G (p.Asn4549Asp) rs1178912631
NM_014363.6(SACS):c.13686A>G (p.Glu4562=)
NM_014363.6(SACS):c.13692T>C (p.Thr4564=)
NM_014363.6(SACS):c.13694C>A (p.Ala4565Asp)
NM_014363.6(SACS):c.13704A>C (p.Ile4568=)
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952
NM_014363.6(SACS):c.13735G>A (p.Val4579Met)
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.137T>G (p.Val46Gly) rs1593160887
NM_014363.6(SACS):c.1387C>A (p.His463Asn)
NM_014363.6(SACS):c.1391T>G (p.Ile464Ser) rs1593144937
NM_014363.6(SACS):c.141G>A (p.Ser47=) rs1593160882
NM_014363.6(SACS):c.1420C>T (p.Arg474Cys) rs746704660
NM_014363.6(SACS):c.1421G>A (p.Arg474His)
NM_014363.6(SACS):c.1428C>T (p.Ser476=)
NM_014363.6(SACS):c.1434A>G (p.Lys478=) rs1593144899
NM_014363.6(SACS):c.1435_1436insTTT (p.Trp479_Arg480insPhe) rs1555254306
NM_014363.6(SACS):c.1441G>T (p.Glu481Ter) rs1593144887
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.1470C>A (p.Ala490=)
NM_014363.6(SACS):c.147G>A (p.Gln49=)
NM_014363.6(SACS):c.1483T>A (p.Phe495Ile) rs748972179
NM_014363.6(SACS):c.1485T>C (p.Phe495=)
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.1519A>G (p.Thr507Ala) rs372022664
NM_014363.6(SACS):c.151C>T (p.Leu51=) rs979224977
NM_014363.6(SACS):c.1521T>G (p.Thr507=)
NM_014363.6(SACS):c.1522C>T (p.Leu508=)
NM_014363.6(SACS):c.1525A>G (p.Ile509Val) rs1566080067
NM_014363.6(SACS):c.1528T>C (p.Leu510=)
NM_014363.6(SACS):c.1533T>C (p.Asp511=)
NM_014363.6(SACS):c.1555del (p.Glu519fs)
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr) rs190617851
NM_014363.6(SACS):c.1566T>A (p.Ser522=) rs1203606581
NM_014363.6(SACS):c.1590T>C (p.Val530=)
NM_014363.6(SACS):c.1593C>T (p.Ile531=) rs113756713
NM_014363.6(SACS):c.1599G>A (p.Lys533=)
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.1613C>T (p.Ala538Val)
NM_014363.6(SACS):c.1614G>A (p.Ala538=)
NM_014363.6(SACS):c.1627G>A (p.Val543Met)
NM_014363.6(SACS):c.1640C>T (p.Pro547Leu) rs140507581
NM_014363.6(SACS):c.1641G>A (p.Pro547=)
NM_014363.6(SACS):c.1647A>G (p.Leu549=)
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.1681del (p.Ala560_Val561insTer) rs1057516543
NM_014363.6(SACS):c.1683G>A (p.Val561=) rs1485932032
NM_014363.6(SACS):c.169G>C (p.Glu57Gln)
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.171+13C>T rs374672041
NM_014363.6(SACS):c.171+6C>T rs3751368
NM_014363.6(SACS):c.1716G>A (p.Leu572=)
NM_014363.6(SACS):c.1728C>T (p.Tyr576=) rs750748828
NM_014363.6(SACS):c.1731C>G (p.Phe577Leu)
NM_014363.6(SACS):c.1752A>G (p.Leu584=) rs368626712
NM_014363.6(SACS):c.1752del (p.Glu585fs)
NM_014363.6(SACS):c.1755A>G (p.Glu585=)
NM_014363.6(SACS):c.175T>A (p.Ser59Thr)
NM_014363.6(SACS):c.1761A>G (p.Thr587=)
NM_014363.6(SACS):c.1762A>G (p.Lys588Glu)
NM_014363.6(SACS):c.1769_1770del (p.Val590fs)
NM_014363.6(SACS):c.1791A>T (p.Ser597=) rs371175405
NM_014363.6(SACS):c.1794G>A (p.Gly598=) rs1184294805
NM_014363.6(SACS):c.1794G>C (p.Gly598=)
NM_014363.6(SACS):c.1797G>A (p.Lys599=)
NM_014363.6(SACS):c.1799A>G (p.Gln600Arg) rs1348513054
NM_014363.6(SACS):c.1815A>G (p.Pro605=) rs377649927
NM_014363.6(SACS):c.1833T>C (p.Ala611=)
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.1869del (p.Arg624fs) rs1006060877
NM_014363.6(SACS):c.187A>T (p.Lys63Ter) rs1593157923
NM_014363.6(SACS):c.1881G>A (p.Thr627=)
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.1886C>T (p.Ala629Val) rs760505057
NM_014363.6(SACS):c.1887G>A (p.Ala629=)
NM_014363.6(SACS):c.1905G>A (p.Leu635=) rs771581634
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.1919_1920del (p.His640fs) rs797045937
NM_014363.6(SACS):c.1920C>T (p.His640=)
NM_014363.6(SACS):c.1940del (p.Lys647fs) rs1593144167
NM_014363.6(SACS):c.1941G>T (p.Lys647Asn)
NM_014363.6(SACS):c.1950T>C (p.Leu650=)
NM_014363.6(SACS):c.1977C>G (p.Ala659=)
NM_014363.6(SACS):c.1980C>T (p.Tyr660=) rs991078992
NM_014363.6(SACS):c.1989G>T (p.Leu663=) rs942220473
NM_014363.6(SACS):c.199C>T (p.Leu67=)
NM_014363.6(SACS):c.1A>G (p.Met1Val) rs771943685
NM_014363.6(SACS):c.20+9G>A
NM_014363.6(SACS):c.2021G>T (p.Gly674Val) rs770199696
NM_014363.6(SACS):c.2023A>T (p.Asn675Tyr) rs374667929
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.2034C>T (p.Pro678=)
NM_014363.6(SACS):c.2037CTC[1] (p.Ser682del)
NM_014363.6(SACS):c.2040C>T (p.Ser680=) rs142115704
NM_014363.6(SACS):c.2064C>T (p.Val688=)
NM_014363.6(SACS):c.2076del (p.Ser693fs) rs1057516224
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr) rs17325713
NM_014363.6(SACS):c.2085A>G (p.Glu695=)
NM_014363.6(SACS):c.2093+10C>T
NM_014363.6(SACS):c.2094-14C>T rs886038601
NM_014363.6(SACS):c.2094-8C>T
NM_014363.6(SACS):c.2094-9C>T
NM_014363.6(SACS):c.2096C>T (p.Ser699Phe) rs374680967
NM_014363.6(SACS):c.21-10C>G
NM_014363.6(SACS):c.21-5C>T rs565378672
NM_014363.6(SACS):c.210A>G (p.Lys70=)
NM_014363.6(SACS):c.2110C>A (p.Leu704Ile) rs767844042
NM_014363.6(SACS):c.2112T>C (p.Leu704=)
NM_014363.6(SACS):c.2139G>A (p.Leu713=)
NM_014363.6(SACS):c.2145T>G (p.Pro715=)
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.2163A>G (p.Leu721=)
NM_014363.6(SACS):c.2175C>G (p.Ala725=) rs756363296
NM_014363.6(SACS):c.2175C>T (p.Ala725=)
NM_014363.6(SACS):c.2181C>G (p.Thr727=)
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.2185+9G>A
NM_014363.6(SACS):c.2186-2A>G rs1057516554
NM_014363.6(SACS):c.2186-4A>G rs371866995
NM_014363.6(SACS):c.2186-8A>G
NM_014363.6(SACS):c.2193A>G (p.Pro731=)
NM_014363.6(SACS):c.2212C>T (p.Leu738=)
NM_014363.6(SACS):c.2223A>G (p.Glu741=)
NM_014363.6(SACS):c.2224C>T (p.Arg742Ter) rs1057517285
NM_014363.6(SACS):c.2233C>T (p.Arg745Cys) rs536614181
NM_014363.6(SACS):c.2233_2235delinsTTC (p.Arg745Phe)
NM_014363.6(SACS):c.2234G>A (p.Arg745His) rs143677534
NM_014363.6(SACS):c.2278T>C (p.Leu760=)
NM_014363.6(SACS):c.2287C>T (p.Gln763Ter) rs1555252953
NM_014363.6(SACS):c.2289A>G (p.Gln763=) rs765734527
NM_014363.6(SACS):c.2294A>G (p.Tyr765Cys) rs141553858
NM_014363.6(SACS):c.2304T>C (p.Asp768=)
NM_014363.6(SACS):c.2316T>C (p.Asn772=)
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.2352A>G (p.Lys784=)
NM_014363.6(SACS):c.2361T>C (p.Tyr787=)
NM_014363.6(SACS):c.2379T>C (p.Asp793=)
NM_014363.6(SACS):c.23G>A (p.Trp8Ter)
NM_014363.6(SACS):c.2403A>G (p.Pro801=) rs758503842
NM_014363.6(SACS):c.2404C>T (p.Leu802Phe)
NM_014363.6(SACS):c.2409C>T (p.Ile803=)
NM_014363.6(SACS):c.2423T>C (p.Leu808Pro)
NM_014363.6(SACS):c.2427G>A (p.Glu809=) rs878854978
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.2460C>G (p.Leu820=) rs761330691
NM_014363.6(SACS):c.2460C>T (p.Leu820=) rs761330691
NM_014363.6(SACS):c.2471C>T (p.Ser824Leu) rs762821420
NM_014363.6(SACS):c.2472G>A (p.Ser824=) rs554395185
NM_014363.6(SACS):c.2475dup (p.Val826fs) rs1555252909
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.2488G>A (p.Asp830Asn)
NM_014363.6(SACS):c.2490T>C (p.Asp830=)
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.2509C>T (p.Pro837Ser) rs769153924
NM_014363.6(SACS):c.2532A>T (p.Val844=)
NM_014363.6(SACS):c.2533C>T (p.Gln845Ter) rs1555252876
NM_014363.6(SACS):c.2551G>T (p.Val851Phe) rs756890722
NM_014363.6(SACS):c.2564T>G (p.Leu855Ter) rs142037771
NM_014363.6(SACS):c.2578C>T (p.Gln860Ter)
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958
NM_014363.6(SACS):c.2581C>T (p.His861Tyr) rs759265754
NM_014363.6(SACS):c.2585C>T (p.Pro862Leu)
NM_014363.6(SACS):c.2586G>A (p.Pro862=)
NM_014363.6(SACS):c.2597A>G (p.Lys866Arg)
NM_014363.6(SACS):c.2599T>C (p.Tyr867His) rs774682589
NM_014363.6(SACS):c.25G>A (p.Val9Ile)
NM_014363.6(SACS):c.260-10C>T
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.2614_2619del (p.Leu872_Pro873del) rs771746381
NM_014363.6(SACS):c.261T>A (p.Gly87=)
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.2652A>T (p.Pro884=)
NM_014363.6(SACS):c.2653T>C (p.Leu885=) rs202075357
NM_014363.6(SACS):c.2661A>G (p.Lys887=)
NM_014363.6(SACS):c.2662T>C (p.Leu888=)
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.2682G>A (p.Ser894=) rs369958174
NM_014363.6(SACS):c.2682G>T (p.Ser894=)
NM_014363.6(SACS):c.2686C>T (p.Leu896Phe) rs760556327
NM_014363.6(SACS):c.2691A>G (p.Pro897=)
NM_014363.6(SACS):c.2699_2700del (p.Lys900fs) rs1167474602
NM_014363.6(SACS):c.2702A>T (p.Asp901Val) rs769056718
NM_014363.6(SACS):c.2713A>T (p.Lys905Ter) rs1593133714
NM_014363.6(SACS):c.2721G>A (p.Leu907=) rs140118958
NM_014363.6(SACS):c.2733C>T (p.Thr911=) rs199702597
NM_014363.6(SACS):c.2770T>C (p.Leu924=)
NM_014363.6(SACS):c.2775_2776del (p.Phe927fs) rs1593133607
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.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.2814T>C (p.Ile938=)
NM_014363.6(SACS):c.2823T>C (p.Tyr941=)
NM_014363.6(SACS):c.2829dup (p.Leu944fs)
NM_014363.6(SACS):c.2830T>C (p.Leu944=)
NM_014363.6(SACS):c.2853C>A (p.His951Gln) rs200644511
NM_014363.6(SACS):c.2862C>T (p.Ala954=) rs776780963
NM_014363.6(SACS):c.2863A>T (p.Lys955Ter) rs1555252786
NM_014363.6(SACS):c.2870del (p.Pro957fs) rs1057516624
NM_014363.6(SACS):c.2877T>C (p.Asp959=) rs761263379
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.288T>C (p.Leu96=) rs1593155706
NM_014363.6(SACS):c.2903_2906del (p.Asp968fs) rs1259615333
NM_014363.6(SACS):c.2904C>T (p.Asp968=)
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.2926C>T (p.Arg976Cys)
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.2964C>G (p.Thr988=)
NM_014363.6(SACS):c.2974T>C (p.Leu992=)
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.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.3030A>G (p.Thr1010=)
NM_014363.6(SACS):c.3042A>G (p.Leu1014=) rs141982796
NM_014363.6(SACS):c.3052G>A (p.Glu1018Lys)
NM_014363.6(SACS):c.3055A>G (p.Asn1019Asp) rs1566071225
NM_014363.6(SACS):c.3059dup (p.Ser1021fs)
NM_014363.6(SACS):c.3060A>C (p.Leu1020=) rs746764976
NM_014363.6(SACS):c.3060A>G (p.Leu1020=)
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.3094G>T (p.Glu1032Ter)
NM_014363.6(SACS):c.3096G>A (p.Glu1032=) rs529746813
NM_014363.6(SACS):c.3111A>G (p.Leu1037=) rs1299826374
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.3144A>T (p.Val1048=)
NM_014363.6(SACS):c.3147A>T (p.Ser1049=) rs1172279475
NM_014363.6(SACS):c.3161T>C (p.Phe1054Ser) rs137853019
NM_014363.6(SACS):c.3186G>A (p.Lys1062=)
NM_014363.6(SACS):c.3195_3196del (p.Phe1065fs) rs1057516551
NM_014363.6(SACS):c.321T>C (p.Tyr107=)
NM_014363.6(SACS):c.3242C>T (p.Pro1081Leu) rs377493083
NM_014363.6(SACS):c.3255C>T (p.His1085=)
NM_014363.6(SACS):c.3258C>T (p.Ser1086=) rs1593132899
NM_014363.6(SACS):c.326A>G (p.Glu109Gly)
NM_014363.6(SACS):c.327A>G (p.Glu109=) rs1285304667
NM_014363.6(SACS):c.3281dup (p.Asn1094fs)
NM_014363.6(SACS):c.3282C>T (p.Asn1094=) rs145499245
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.3294C>T (p.Leu1098=)
NM_014363.6(SACS):c.3298_3301del (p.Glu1100fs)
NM_014363.6(SACS):c.3306T>C (p.Asp1102=) rs759288724
NM_014363.6(SACS):c.3328dup (p.Ile1110fs) rs770866403
NM_014363.6(SACS):c.3329T>C (p.Ile1110Thr)
NM_014363.6(SACS):c.3339A>G (p.Leu1113=)
NM_014363.6(SACS):c.3343G>A (p.Val1115Ile)
NM_014363.6(SACS):c.3345C>T (p.Val1115=) rs143287019
NM_014363.6(SACS):c.3346G>A (p.Gly1116Ser)
NM_014363.6(SACS):c.3346G>T (p.Gly1116Cys) rs774044532
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.3393C>T (p.Leu1131=)
NM_014363.6(SACS):c.3402T>C (p.Val1134=) rs1464284835
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.3414T>C (p.Asn1138=) rs146431793
NM_014363.6(SACS):c.3417C>T (p.His1139=) rs758862765
NM_014363.6(SACS):c.3423G>A (p.Leu1141=)
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.3429A>G (p.Gln1143=)
NM_014363.6(SACS):c.3443A>C (p.Lys1148Thr)
NM_014363.6(SACS):c.345+10A>G
NM_014363.6(SACS):c.345+14C>T rs538944334
NM_014363.6(SACS):c.345+35T>C rs886038602
NM_014363.6(SACS):c.3451T>C (p.Leu1151=)
NM_014363.6(SACS):c.3457A>T (p.Lys1153Ter) rs1555252634
NM_014363.6(SACS):c.346-3T>A rs186506382
NM_014363.6(SACS):c.346-47G>A rs9510706
NM_014363.6(SACS):c.346-5G>A
NM_014363.6(SACS):c.3462A>C (p.Ile1154=)
NM_014363.6(SACS):c.348A>G (p.Glu116=)
NM_014363.6(SACS):c.3504A>G (p.Pro1168=)
NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala) rs1443000762
NM_014363.6(SACS):c.3513G>A (p.Leu1171=)
NM_014363.6(SACS):c.3523_3527del (p.Gly1175fs) rs1555252623
NM_014363.6(SACS):c.3531C>T (p.Leu1177=)
NM_014363.6(SACS):c.3545C>T (p.Ala1182Val) rs373859681
NM_014363.6(SACS):c.3546A>G (p.Ala1182=)
NM_014363.6(SACS):c.3550C>T (p.Pro1184Ser)
NM_014363.6(SACS):c.3551C>G (p.Pro1184Arg)
NM_014363.6(SACS):c.3552A>C (p.Pro1184=)
NM_014363.6(SACS):c.3556dup (p.Met1186fs) rs1555252611
NM_014363.6(SACS):c.3557T>C (p.Met1186Thr) rs886050087
NM_014363.6(SACS):c.357G>A (p.Gln119=)
NM_014363.6(SACS):c.3589T>C (p.Ser1197Pro) rs727503785
NM_014363.6(SACS):c.3591C>T (p.Ser1197=)
NM_014363.6(SACS):c.3615C>T (p.Ile1205=) rs886050086
NM_014363.6(SACS):c.3633del (p.Ala1212fs) rs1555252587
NM_014363.6(SACS):c.3637T>C (p.Leu1213=)
NM_014363.6(SACS):c.3674T>G (p.Leu1225Ter) rs959856535
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.3706_3707insACT (p.Tyr1235dup) rs1555252563
NM_014363.6(SACS):c.3726T>C (p.Asp1242=)
NM_014363.6(SACS):c.3729A>G (p.Glu1243=) rs756663705
NM_014363.6(SACS):c.372T>G (p.Ala124=)
NM_014363.6(SACS):c.3739C>A (p.Gln1247Lys)
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.3768C>T (p.Tyr1256=) rs200350631
NM_014363.6(SACS):c.3771A>T (p.Gly1257=)
NM_014363.6(SACS):c.378G>A (p.Ala126=)
NM_014363.6(SACS):c.378G>T (p.Ala126=)
NM_014363.6(SACS):c.3816C>G (p.Ala1272=)
NM_014363.6(SACS):c.3825T>C (p.Phe1275=)
NM_014363.6(SACS):c.3828A>G (p.Pro1276=) rs369988818
NM_014363.6(SACS):c.382_383del (p.Glu128fs)
NM_014363.6(SACS):c.3831_3832dup (p.Val1278fs) rs1555252545
NM_014363.6(SACS):c.3840T>A (p.Thr1280=) rs1319754110
NM_014363.6(SACS):c.3868G>T (p.Ala1290Ser) rs757939935
NM_014363.6(SACS):c.3881C>T (p.Pro1294Leu) rs1593132075
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.3918T>C (p.Asn1306=) rs774765353
NM_014363.6(SACS):c.3930C>A (p.Thr1310=) rs1593132012
NM_014363.6(SACS):c.394T>C (p.Leu132=)
NM_014363.6(SACS):c.3951A>G (p.Leu1317=)
NM_014363.6(SACS):c.396A>G (p.Leu132=) rs1256540997
NM_014363.6(SACS):c.3975G>A (p.Glu1325=)
NM_014363.6(SACS):c.3978_3982del (p.Glu1326fs) rs1555252518
NM_014363.6(SACS):c.3992A>G (p.His1331Arg)
NM_014363.6(SACS):c.399T>C (p.Tyr133=) rs755837406
NM_014363.6(SACS):c.4015A>C (p.Ile1339Leu)
NM_014363.6(SACS):c.402T>C (p.Asp134=)
NM_014363.6(SACS):c.4033dup (p.Gln1345fs) rs606231163
NM_014363.6(SACS):c.4039del (p.Leu1347fs) rs1057516222
NM_014363.6(SACS):c.4050A>G (p.Gln1350=)
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.4098G>C (p.Leu1366=) rs200381539
NM_014363.6(SACS):c.4103G>T (p.Ser1368Ile) rs1566069517
NM_014363.6(SACS):c.4107T>C (p.Asn1369=)
NM_014363.6(SACS):c.4113T>A (p.Ile1371=)
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.4118C>T (p.Ala1373Val) rs61548169
NM_014363.6(SACS):c.4145A>G (p.His1382Arg) rs550057119
NM_014363.6(SACS):c.4149T>C (p.His1383=) rs749219225
NM_014363.6(SACS):c.414C>G (p.Tyr138Ter) rs199474695
NM_014363.6(SACS):c.414C>T (p.Tyr138=)
NM_014363.6(SACS):c.4161T>G (p.Pro1387=)
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.4259_4263del (p.Ile1420fs)
NM_014363.6(SACS):c.4265_4274dup (p.Ile1426_Pro1427insAlaTer) rs1555252433
NM_014363.6(SACS):c.426T>G (p.Thr142=)
NM_014363.6(SACS):c.4279C>A (p.Pro1427Thr) rs527513599
NM_014363.6(SACS):c.4293A>G (p.Ala1431=)
NM_014363.6(SACS):c.4296A>G (p.Glu1432=)
NM_014363.6(SACS):c.4298G>A (p.Trp1433Ter) rs1057516930
NM_014363.6(SACS):c.4299G>A (p.Trp1433Ter)
NM_014363.6(SACS):c.4302A>G (p.Leu1434=) rs34559250
NM_014363.6(SACS):c.4314C>T (p.Cys1438=)
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.4356G>A (p.Glu1452=)
NM_014363.6(SACS):c.435A>G (p.Ser145=)
NM_014363.6(SACS):c.4362A>G (p.Ser1454=)
NM_014363.6(SACS):c.4385dup (p.Arg1463fs) rs1555252388
NM_014363.6(SACS):c.439G>C (p.Asp147His)
NM_014363.6(SACS):c.4401T>C (p.Ile1467=)
NM_014363.6(SACS):c.4413C>T (p.Tyr1471=)
NM_014363.6(SACS):c.4419A>C (p.Ser1473=)
NM_014363.6(SACS):c.4434T>C (p.Phe1478=)
NM_014363.6(SACS):c.4440A>G (p.Glu1480=)
NM_014363.6(SACS):c.4452C>T (p.Asn1484=)
NM_014363.6(SACS):c.4457A>T (p.Asp1486Val)
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.4469C>G (p.Ala1490Gly) rs886043557
NM_014363.6(SACS):c.447G>A (p.Ala149=)
NM_014363.6(SACS):c.4488G>A (p.Leu1496=)
NM_014363.6(SACS):c.4495dup (p.Met1499fs) rs1555252359
NM_014363.6(SACS):c.4522A>C (p.Asn1508His) rs144653411
NM_014363.6(SACS):c.4527C>T (p.Leu1509=)
NM_014363.6(SACS):c.4539G>A (p.Gly1513=)
NM_014363.6(SACS):c.4565_4568del (p.Leu1522fs) rs1555252349
NM_014363.6(SACS):c.4578C>T (p.Asn1526=)
NM_014363.6(SACS):c.4585C>T (p.Gln1529Ter) rs1555252345
NM_014363.6(SACS):c.4593dup (p.Asp1532fs) rs780197970
NM_014363.6(SACS):c.4598C>G (p.Ser1533Ter) rs886041813
NM_014363.6(SACS):c.4599A>C (p.Ser1533=) rs1329953828
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.4611C>T (p.Asn1537=)
NM_014363.6(SACS):c.4612A>G (p.Ile1538Val) rs544249449
NM_014363.6(SACS):c.4614A>T (p.Ile1538=)
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.4665A>C (p.Lys1555Asn) rs769852897
NM_014363.6(SACS):c.4668T>C (p.Phe1556=)
NM_014363.6(SACS):c.4674T>G (p.Leu1558=)
NM_014363.6(SACS):c.4689G>A (p.Val1563=)
NM_014363.6(SACS):c.468_469insG (p.Tyr157fs) rs1057516820
NM_014363.6(SACS):c.4692C>T (p.Tyr1564=)
NM_014363.6(SACS):c.4701T>C (p.Thr1567=)
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.4743C>T (p.Phe1581=) rs143310473
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920
NM_014363.6(SACS):c.4747C>A (p.Pro1583Thr) rs1566068552
NM_014363.6(SACS):c.4749A>G (p.Pro1583=)
NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser) rs201558584
NM_014363.6(SACS):c.475T>C (p.Tyr159His)
NM_014363.6(SACS):c.4760del (p.His1587fs) rs1057516285
NM_014363.6(SACS):c.477C>T (p.Tyr159=)
NM_014363.6(SACS):c.4782C>G (p.Asp1594Glu)
NM_014363.6(SACS):c.47G>T (p.Gly16Val) rs886050090
NM_014363.6(SACS):c.4803A>G (p.Lys1601=)
NM_014363.6(SACS):c.4814G>C (p.Ser1605Thr)
NM_014363.6(SACS):c.4821A>G (p.Gln1607=)
NM_014363.6(SACS):c.4828A>C (p.Arg1610=)
NM_014363.6(SACS):c.482A>G (p.Asn161Ser)
NM_014363.6(SACS):c.4835dup (p.Phe1614fs)
NM_014363.6(SACS):c.483C>T (p.Asn161=)
NM_014363.6(SACS):c.4840T>C (p.Phe1614Leu)
NM_014363.6(SACS):c.4857A>G (p.Lys1619=)
NM_014363.6(SACS):c.486G>T (p.Ala162=)
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.4899A>T (p.Val1633=)
NM_014363.6(SACS):c.4900G>C (p.Glu1634Gln) rs143961484
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.4920T>C (p.Asn1640=)
NM_014363.6(SACS):c.4926C>G (p.Thr1642=)
NM_014363.6(SACS):c.4929T>C (p.Leu1643=)
NM_014363.6(SACS):c.492C>T (p.Phe164=)
NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter)
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met) rs200810800
NM_014363.6(SACS):c.4944T>C (p.Phe1648=)
NM_014363.6(SACS):c.494C>T (p.Thr165Ile) rs1419027987
NM_014363.6(SACS):c.4955A>G (p.Gln1652Arg)
NM_014363.6(SACS):c.495C>T (p.Thr165=)
NM_014363.6(SACS):c.4963A>G (p.Lys1655Glu)
NM_014363.6(SACS):c.4971T>C (p.Ser1657=) rs1593130707
NM_014363.6(SACS):c.4976T>G (p.Val1659Gly) rs886050085
NM_014363.6(SACS):c.4985C>T (p.Thr1662Met) rs139387396
NM_014363.6(SACS):c.4986G>A (p.Thr1662=)
NM_014363.6(SACS):c.498A>G (p.Pro166=)
NM_014363.6(SACS):c.4998A>G (p.Thr1666=) rs184994682
NM_014363.6(SACS):c.5008_5011del (p.Tyr1670fs)
NM_014363.6(SACS):c.5010T>G (p.Tyr1670Ter) rs1459899547
NM_014363.6(SACS):c.5043C>T (p.His1681=)
NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys)
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.5070A>G (p.Val1690=)
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.5079G>A (p.Met1693Ile) rs775069857
NM_014363.6(SACS):c.5091C>T (p.Tyr1697=)
NM_014363.6(SACS):c.510C>T (p.His170=)
NM_014363.6(SACS):c.5111_5113dup (p.Pro1705_Ser1706insHis) rs1555252172
NM_014363.6(SACS):c.5112C>T (p.Asn1704=)
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.5147A>G (p.Lys1716Arg)
NM_014363.6(SACS):c.5149_5151del (p.Lys1717del) rs754439135
NM_014363.6(SACS):c.5151del (p.Lys1717fs)
NM_014363.6(SACS):c.5151dup (p.Ser1718fs) rs754439135
NM_014363.6(SACS):c.5169A>G (p.Ala1723=) rs200699984
NM_014363.6(SACS):c.5172_5173delinsTGGAACACAAAG (p.Leu1724fs)
NM_014363.6(SACS):c.517C>T (p.Gln173Ter) rs1593147785
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.5226C>T (p.Cys1742=)
NM_014363.6(SACS):c.5238dup (p.Lys1747Ter) rs1555252148
NM_014363.6(SACS):c.5241A>G (p.Lys1747=)
NM_014363.6(SACS):c.5263_5264del (p.Lys1755fs) rs199474696
NM_014363.6(SACS):c.5274C>T (p.Cys1758=) rs201982449
NM_014363.6(SACS):c.5277T>C (p.Ile1759=)
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.5304C>T (p.His1768=)
NM_014363.6(SACS):c.5304_5306del (p.His1769del) rs1555252136
NM_014363.6(SACS):c.5307T>C (p.His1769=) rs145747008
NM_014363.6(SACS):c.5322T>C (p.Ile1774=)
NM_014363.6(SACS):c.5337G>A (p.Ser1779=)
NM_014363.6(SACS):c.5340A>T (p.Pro1780=) rs1195719474
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.5364C>T (p.Asp1788=)
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.540A>G (p.Lys180=) rs999767217
NM_014363.6(SACS):c.5414C>G (p.Ser1805Ter) rs1555252113
NM_014363.6(SACS):c.5415A>G (p.Ser1805=)
NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys) rs375805688
NM_014363.6(SACS):c.5421G>A (p.Glu1807=)
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.5458C>T (p.Leu1820=)
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.5488C>T (p.Leu1830=)
NM_014363.6(SACS):c.5492del (p.Lys1831fs)
NM_014363.6(SACS):c.5502G>C (p.Leu1834=) rs34389000
NM_014363.6(SACS):c.5505T>C (p.Ser1835=)
NM_014363.6(SACS):c.5526A>G (p.Gly1842=)
NM_014363.6(SACS):c.5529G>C (p.Leu1843=) rs148091738
NM_014363.6(SACS):c.552T>G (p.Pro184=)
NM_014363.6(SACS):c.5557C>T (p.Leu1853=)
NM_014363.6(SACS):c.5582G>A (p.Trp1861Ter)
NM_014363.6(SACS):c.5583G>C (p.Trp1861Cys) rs140678034
NM_014363.6(SACS):c.5595A>C (p.Pro1865=) rs777869317
NM_014363.6(SACS):c.5598C>T (p.His1866=)
NM_014363.6(SACS):c.5598_5599del (p.Ile1867fs) rs1555252086
NM_014363.6(SACS):c.559G>T (p.Val187Phe) rs1344578174
NM_014363.6(SACS):c.55G>A (p.Gly19Ser)
NM_014363.6(SACS):c.5610G>A (p.Val1870=)
NM_014363.6(SACS):c.5613T>C (p.Phe1871=) rs755450922
NM_014363.6(SACS):c.5618_5619del (p.Tyr1873fs) rs1188844823
NM_014363.6(SACS):c.561C>T (p.Val187=)
NM_014363.6(SACS):c.5621T>C (p.Leu1874Ser)
NM_014363.6(SACS):c.5625T>C (p.Pro1875=)
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.5646G>A (p.Leu1882=)
NM_014363.6(SACS):c.5671G>C (p.Ala1891Pro)
NM_014363.6(SACS):c.5679A>G (p.Thr1893=)
NM_014363.6(SACS):c.56del (p.Gly19fs)
NM_014363.6(SACS):c.5707_5708del (p.Asp1903fs) rs1593129673
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.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.5733G>A (p.Thr1911=)
NM_014363.6(SACS):c.573A>G (p.Gly191=)
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.5745T>C (p.His1915=)
NM_014363.6(SACS):c.5761T>G (p.Tyr1921Asp)
NM_014363.6(SACS):c.5764_5767del (p.Leu1922fs) rs759166250
NM_014363.6(SACS):c.5766A>G (p.Leu1922=)
NM_014363.6(SACS):c.5768A>C (p.Gln1923Pro)
NM_014363.6(SACS):c.576T>C (p.Ile192=)
NM_014363.6(SACS):c.5770G>T (p.Val1924Leu)
NM_014363.6(SACS):c.5784dup (p.Arg1929fs) rs1057517099
NM_014363.6(SACS):c.5785C>A (p.Arg1929=)
NM_014363.6(SACS):c.5785C>T (p.Arg1929Trp)
NM_014363.6(SACS):c.5790C>T (p.Asp1930=)
NM_014363.6(SACS):c.5796_5809del (p.Thr1933fs)
NM_014363.6(SACS):c.57C>T (p.Gly19=)
NM_014363.6(SACS):c.5826C>T (p.Tyr1942=) rs759326217
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.5836T>C (p.Trp1946Arg) rs137853017
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.5886A>G (p.Gly1962=) rs1593129426
NM_014363.6(SACS):c.5898T>C (p.Asp1966=)
NM_014363.6(SACS):c.5903C>T (p.Ala1968Val)
NM_014363.6(SACS):c.5906A>G (p.His1969Arg) rs776693219
NM_014363.6(SACS):c.5910A>G (p.Gly1970=)
NM_014363.6(SACS):c.5919del (p.Glu1974fs) rs1555251990
NM_014363.6(SACS):c.591C>T (p.Val197=) rs750923640
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.5946A>G (p.Gly1982=) rs746358078
NM_014363.6(SACS):c.5970C>T (p.Asn1990=)
NM_014363.6(SACS):c.5971G>A (p.Val1991Ile)
NM_014363.6(SACS):c.5975G>A (p.Arg1992Lys) rs758101602
NM_014363.6(SACS):c.5985T>C (p.Asp1995=)
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.6006A>G (p.Arg2002=) rs920395434
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.604+1G>A rs1555254734
NM_014363.6(SACS):c.6044A>C (p.Tyr2015Ser) rs1131691664
NM_014363.6(SACS):c.605-1G>A rs1555254489
NM_014363.6(SACS):c.605-7T>C
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.6057T>C (p.Thr2019=)
NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu) rs747566710
NM_014363.6(SACS):c.605A>G (p.Asp202Gly) rs777554091
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.6095C>T (p.Ser2032Leu)
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.6135A>T (p.Ile2045=)
NM_014363.6(SACS):c.6150A>G (p.Thr2050=)
NM_014363.6(SACS):c.6163del (p.Gln2055fs) rs1555251905
NM_014363.6(SACS):c.6165G>A (p.Gln2055=)
NM_014363.6(SACS):c.6172del (p.Ser2058fs) rs1214399996
NM_014363.6(SACS):c.6178G>C (p.Val2060Leu) rs373226693
NM_014363.6(SACS):c.6186T>C (p.Phe2062=)
NM_014363.6(SACS):c.6195T>C (p.Ile2065=) rs4143768
NM_014363.6(SACS):c.6201A>G (p.Glu2067=)
NM_014363.6(SACS):c.6221del (p.Asp2074fs) rs1057517366
NM_014363.6(SACS):c.6222T>C (p.Asp2074=)
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.6288A>T (p.Pro2096=)
NM_014363.6(SACS):c.6290del (p.Cys2097fs)
NM_014363.6(SACS):c.6300T>A (p.Cys2100Ter)
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.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.6353_6356del (p.Gly2118fs) rs1555251818
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter) rs766711286
NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu) rs755723511
NM_014363.6(SACS):c.636C>T (p.Ile212=)
NM_014363.6(SACS):c.6387G>C (p.Gly2129=) rs141341126
NM_014363.6(SACS):c.6399T>C (p.Tyr2133=)
NM_014363.6(SACS):c.6402T>A (p.Gly2134=)
NM_014363.6(SACS):c.6406A>T (p.Thr2136Ser) rs1566066009
NM_014363.6(SACS):c.6409C>G (p.Gln2137Glu) rs201690040
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.6435G>C (p.Leu2145Phe) rs1593128652
NM_014363.6(SACS):c.6436A>G (p.Ile2146Val) rs1415663565
NM_014363.6(SACS):c.6447T>C (p.Val2149=) rs373110459
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.6453A>G (p.Leu2151=)
NM_014363.6(SACS):c.6456T>C (p.Gly2152=) rs747925179
NM_014363.6(SACS):c.6460G>T (p.Ala2154Ser)
NM_014363.6(SACS):c.6466GAT[1] (p.Asp2157del) rs1204242892
NM_014363.6(SACS):c.6485A>G (p.Asp2162Gly) rs369388933
NM_014363.6(SACS):c.6492A>G (p.Leu2164=) rs752050563
NM_014363.6(SACS):c.6495A>G (p.Glu2165=)
NM_014363.6(SACS):c.6496C>T (p.Arg2166Cys)
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.6561C>T (p.Ile2187=) rs143477126
NM_014363.6(SACS):c.6565T>G (p.Leu2189Val) rs771923767
NM_014363.6(SACS):c.6576C>T (p.Ile2192=) rs145327845
NM_014363.6(SACS):c.6577G>A (p.Asp2193Asn) rs149278134
NM_014363.6(SACS):c.6579T>C (p.Asp2193=)
NM_014363.6(SACS):c.6585A>G (p.Lys2195=)
NM_014363.6(SACS):c.6592_6593insAAAAAAAAA (p.Ile2198_Arg2199insLysLysLys) rs1555251719
NM_014363.6(SACS):c.6593T>C (p.Ile2198Thr) rs754906806
NM_014363.6(SACS):c.6623del (p.Ala2208fs) rs1181477970
NM_014363.6(SACS):c.6632A>G (p.Gln2211Arg)
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala) rs556248979
NM_014363.6(SACS):c.6636A>C (p.Thr2212=) rs899076462
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.6679T>A (p.Leu2227Met)
NM_014363.6(SACS):c.6696C>T (p.Asn2232=)
NM_014363.6(SACS):c.66C>T (p.Thr22=)
NM_014363.6(SACS):c.6702T>A (p.Phe2234Leu)
NM_014363.6(SACS):c.6714C>T (p.Thr2238=)
NM_014363.6(SACS):c.6728C>T (p.Thr2243Ile)
NM_014363.6(SACS):c.6730G>A (p.Asp2244Asn)
NM_014363.6(SACS):c.6750T>C (p.His2250=)
NM_014363.6(SACS):c.6754G>T (p.Asp2252Tyr) rs886050082
NM_014363.6(SACS):c.6757dup (p.Ile2253fs) rs1057516932
NM_014363.6(SACS):c.6759A>C (p.Ile2253=)
NM_014363.6(SACS):c.6769T>C (p.Leu2257=)
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.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.6849A>T (p.Gly2283=)
NM_014363.6(SACS):c.6855C>G (p.Leu2285=)
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.6859A>C (p.Lys2287Gln) rs1397588851
NM_014363.6(SACS):c.6871G>C (p.Asp2291His) rs1170939021
NM_014363.6(SACS):c.6889T>C (p.Leu2297=)
NM_014363.6(SACS):c.6919G>T (p.Gly2307Ter) rs1555251615
NM_014363.6(SACS):c.6921A>G (p.Gly2307=)
NM_014363.6(SACS):c.6928C>T (p.Leu2310=)
NM_014363.6(SACS):c.6932A>G (p.Tyr2311Cys) rs1566065185
NM_014363.6(SACS):c.6939G>A (p.Glu2313=)
NM_014363.6(SACS):c.6941A>C (p.Asn2314Thr)
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr) rs147949881
NM_014363.6(SACS):c.6954T>C (p.Ala2318=)
NM_014363.6(SACS):c.696T>A (p.Asn232Lys) rs2031640
NM_014363.6(SACS):c.696T>C (p.Asn232=)
NM_014363.6(SACS):c.6978C>G (p.Ala2326=)
NM_014363.6(SACS):c.6993A>T (p.Glu2331Asp) rs759201960
NM_014363.6(SACS):c.699del (p.Asp235fs)
NM_014363.6(SACS):c.7023A>G (p.Leu2341=)
NM_014363.6(SACS):c.7042C>T (p.Leu2348=) rs919827837
NM_014363.6(SACS):c.7049A>G (p.Glu2350Gly)
NM_014363.6(SACS):c.7056A>C (p.Ala2352=)
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.712A>T (p.Lys238Ter) rs764585158
NM_014363.6(SACS):c.7131G>A (p.Lys2377=)
NM_014363.6(SACS):c.7134T>C (p.Tyr2378=)
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.7147del (p.Arg2383fs)
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.7164C>T (p.Thr2388=) rs918107481
NM_014363.6(SACS):c.7165G>A (p.Val2389Met) rs142869943
NM_014363.6(SACS):c.7171G>A (p.Val2391Met) rs760087813
NM_014363.6(SACS):c.7182A>G (p.Ser2394=) rs768013904
NM_014363.6(SACS):c.7200T>C (p.Phe2400=) rs148544893
NM_014363.6(SACS):c.7203T>C (p.Ala2401=) rs1400244997
NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs) rs773182375
NM_014363.6(SACS):c.7207G>C (p.Val2403Leu)
NM_014363.6(SACS):c.7210T>G (p.Leu2404Val) rs1593127760
NM_014363.6(SACS):c.7216T>C (p.Ser2406Pro)
NM_014363.6(SACS):c.7221_7224dup (p.Gln2409Ter) rs1555251514
NM_014363.6(SACS):c.7242G>A (p.Lys2414=)
NM_014363.6(SACS):c.7250_7254del (p.Thr2417fs)
NM_014363.6(SACS):c.7262T>A (p.Phe2421Tyr) rs1213144547
NM_014363.6(SACS):c.726A>G (p.Glu242=)
NM_014363.6(SACS):c.7272C>A (p.Cys2424Ter)
NM_014363.6(SACS):c.7272C>T (p.Cys2424=)
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter) rs145766983
NM_014363.6(SACS):c.7274G>C (p.Arg2425Pro)
NM_014363.6(SACS):c.7275A>G (p.Arg2425=)
NM_014363.6(SACS):c.7281A>C (p.Ile2427=)
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.72G>A (p.Ala24=)
NM_014363.6(SACS):c.7306A>C (p.Ile2436Leu) rs567650774
NM_014363.6(SACS):c.7314A>G (p.Glu2438=)
NM_014363.6(SACS):c.7326A>G (p.Glu2442=)
NM_014363.6(SACS):c.7347C>A (p.Gly2449=)
NM_014363.6(SACS):c.7354T>C (p.Leu2452=) rs761258047
NM_014363.6(SACS):c.7365T>C (p.Asp2455=)
NM_014363.6(SACS):c.736C>G (p.Gln246Glu) rs886050089
NM_014363.6(SACS):c.7374del (p.Met2459fs)
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.7395G>A (p.Ser2465=)
NM_014363.6(SACS):c.7406A>G (p.Asn2469Ser)
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.7449T>C (p.Tyr2483=)
NM_014363.6(SACS):c.744A>C (p.Ala248=)
NM_014363.6(SACS):c.7454A>T (p.His2485Leu)
NM_014363.6(SACS):c.7464A>G (p.Ile2488Met) rs1593127405
NM_014363.6(SACS):c.7466C>A (p.Pro2489His) rs766553685
NM_014363.6(SACS):c.7476A>G (p.Val2492=) rs1593127376
NM_014363.6(SACS):c.747A>G (p.Pro249=)
NM_014363.6(SACS):c.7485A>G (p.Lys2495=)
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.751G>A (p.Val251Ile)
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.7569G>A (p.Gly2523=) rs749462494
NM_014363.6(SACS):c.7586C>A (p.Thr2529Asn) rs1320224325
NM_014363.6(SACS):c.7595T>C (p.Ile2532Thr)
NM_014363.6(SACS):c.7601G>A (p.Ser2534Asn)
NM_014363.6(SACS):c.7613C>T (p.Ala2538Val)
NM_014363.6(SACS):c.7614A>C (p.Ala2538=)
NM_014363.6(SACS):c.7614A>G (p.Ala2538=)
NM_014363.6(SACS):c.7632A>G (p.Glu2544=) rs752179231
NM_014363.6(SACS):c.7641A>G (p.Lys2547=) rs780021681
NM_014363.6(SACS):c.7641dup (p.Glu2548fs) rs876657720
NM_014363.6(SACS):c.7644G>C (p.Glu2548Asp)
NM_014363.6(SACS):c.7647T>G (p.Leu2549=) rs186301471
NM_014363.6(SACS):c.7650T>G (p.Leu2550=)
NM_014363.6(SACS):c.7655dup (p.Asn2552fs)
NM_014363.6(SACS):c.7674G>A (p.Ala2558=)
NM_014363.6(SACS):c.7692G>A (p.Val2564=)
NM_014363.6(SACS):c.7697A>G (p.Asp2566Gly)
NM_014363.6(SACS):c.76C>T (p.Leu26=)
NM_014363.6(SACS):c.7713A>G (p.Pro2571=)
NM_014363.6(SACS):c.7713A>T (p.Pro2571=) rs557113294
NM_014363.6(SACS):c.771C>T (p.Thr257=)
NM_014363.6(SACS):c.7725A>T (p.Ile2575=) rs200735789
NM_014363.6(SACS):c.7737G>A (p.Lys2579=) rs139279302
NM_014363.6(SACS):c.7742C>T (p.Ala2581Val) rs866333277
NM_014363.6(SACS):c.7747T>C (p.Leu2583=) rs1017350676
NM_014363.6(SACS):c.774G>A (p.Lys258=)
NM_014363.6(SACS):c.7761A>G (p.Ala2587=)
NM_014363.6(SACS):c.7763T>A (p.Leu2588His) rs1555251328
NM_014363.6(SACS):c.7764_7767dup (p.Val2590fs)
NM_014363.6(SACS):c.7788del (p.Phe2596fs) rs1057516959
NM_014363.6(SACS):c.7794A>T (p.Glu2598Asp)
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.7819C>A (p.Leu2607Ile)
NM_014363.6(SACS):c.7824A>G (p.Gly2608=) rs765747016
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.7898C>T (p.Thr2633Ile) rs1555251295
NM_014363.6(SACS):c.789C>T (p.Asn263=) rs771920263
NM_014363.6(SACS):c.7902C>T (p.Asp2634=)
NM_014363.6(SACS):c.7903del (p.Cys2635fs) rs1028098148
NM_014363.6(SACS):c.7911T>G (p.Ser2637=)
NM_014363.6(SACS):c.7915_7920del (p.Ile2639_Ser2640del) rs1555251289
NM_014363.6(SACS):c.7918T>C (p.Ser2640Pro)
NM_014363.6(SACS):c.7940T>A (p.Ile2647Asn) rs934642310
NM_014363.6(SACS):c.7950T>C (p.Pro2650=)
NM_014363.6(SACS):c.7962T>C (p.Tyr2654=)
NM_014363.6(SACS):c.7968A>C (p.Pro2656=)
NM_014363.6(SACS):c.7974C>G (p.Ala2658=)
NM_014363.6(SACS):c.7977A>C (p.Thr2659=)
NM_014363.6(SACS):c.7981A>G (p.Ile2661Val) rs1269342975
NM_014363.6(SACS):c.7988C>T (p.Pro2663Leu)
NM_014363.6(SACS):c.7989C>G (p.Pro2663=)
NM_014363.6(SACS):c.7989C>T (p.Pro2663=)
NM_014363.6(SACS):c.7991G>T (p.Gly2664Val) rs1060499656
NM_014363.6(SACS):c.8004A>G (p.Arg2668=)
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.8058G>C (p.Leu2686=) rs779477513
NM_014363.6(SACS):c.8080A>T (p.Asn2694Tyr) rs1390533003
NM_014363.6(SACS):c.8088A>T (p.Thr2696=)
NM_014363.6(SACS):c.8104C>T (p.Leu2702Phe) rs1593126754
NM_014363.6(SACS):c.8108G>A (p.Arg2703His) rs750181262
NM_014363.6(SACS):c.8109T>C (p.Arg2703=)
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.8132C>A (p.Ser2711Ter)
NM_014363.6(SACS):c.8133G>A (p.Ser2711=) rs143386746
NM_014363.6(SACS):c.813C>T (p.Phe271=)
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.8142G>T (p.Ser2714=)
NM_014363.6(SACS):c.814C>T (p.Arg272Cys) rs374128662
NM_014363.6(SACS):c.8154A>G (p.Ala2718=) rs773434326
NM_014363.6(SACS):c.815G>A (p.Arg272His) rs745907077
NM_014363.6(SACS):c.8161A>G (p.Arg2721Gly)
NM_014363.6(SACS):c.8166G>T (p.Met2722Ile)
NM_014363.6(SACS):c.8169C>T (p.Val2723=)
NM_014363.6(SACS):c.8187A>G (p.Lys2729=)
NM_014363.6(SACS):c.818T>A (p.Phe273Tyr) rs182864646
NM_014363.6(SACS):c.8190G>A (p.Leu2730=)
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.8233G>A (p.Glu2745Lys)
NM_014363.6(SACS):c.8238A>C (p.Lys2746Asn)
NM_014363.6(SACS):c.8238_8239dup (p.Ile2747fs)
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val) rs186436335
NM_014363.6(SACS):c.825T>A (p.Leu275=)
NM_014363.6(SACS):c.8269G>A (p.Gly2757Arg) rs1085307756
NM_014363.6(SACS):c.8281G>A (p.Val2761Met)
NM_014363.6(SACS):c.8305dup (p.Ile2769fs) rs1279988199
NM_014363.6(SACS):c.8307C>A (p.Ile2769=)
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala) rs763504656
NM_014363.6(SACS):c.831A>G (p.Leu277=)
NM_014363.6(SACS):c.832C>T (p.Gln278Ter) rs1555254439
NM_014363.6(SACS):c.8330G>A (p.Arg2777Lys)
NM_014363.6(SACS):c.8336A>T (p.Gln2779Leu)
NM_014363.6(SACS):c.8337A>G (p.Gln2779=) rs777320906
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787
NM_014363.6(SACS):c.8340del (p.His2781fs) rs753958013
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.8344_8345delinsAT (p.Ala2782Ile) rs386768924
NM_014363.6(SACS):c.8345C>T (p.Ala2782Val) rs61742500
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.8377C>T (p.Gln2793Ter) rs1240368715
NM_014363.6(SACS):c.8379G>A (p.Gln2793=) rs776028181
NM_014363.6(SACS):c.8388_8402del (p.Asp2796_Gln2801delinsGlu) rs1593126382
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.8409C>G (p.Thr2803=)
NM_014363.6(SACS):c.8409C>T (p.Thr2803=)
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.8451G>C (p.Thr2817=)
NM_014363.6(SACS):c.8454G>A (p.Trp2818Ter)
NM_014363.6(SACS):c.8471C>G (p.Ser2824Ter)
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.8495T>C (p.Val2832Ala) rs1593126225
NM_014363.6(SACS):c.8497_8500del (p.Ser2833fs) rs1555251007
NM_014363.6(SACS):c.8504G>A (p.Ser2835Asn) rs1382975968
NM_014363.6(SACS):c.8505T>C (p.Ser2835=)
NM_014363.6(SACS):c.8512_8514del (p.Ser2838del) rs1555251001
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.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.8604C>T (p.Phe2868=)
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.862_863delinsTC (p.Asn288Ser) rs1555254433
NM_014363.6(SACS):c.8634G>C (p.Gly2878=)
NM_014363.6(SACS):c.8646T>C (p.His2882=) rs374508473
NM_014363.6(SACS):c.8693G>A (p.Arg2898His) rs201977288
NM_014363.6(SACS):c.8697T>C (p.Asp2899=)
NM_014363.6(SACS):c.8700T>C (p.Asp2900=)
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.8773T>C (p.Leu2925=)
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014363.6(SACS):c.8793dup (p.Arg2932fs)
NM_014363.6(SACS):c.8794C>T (p.Arg2932Trp)
NM_014363.6(SACS):c.8799T>C (p.Tyr2933=) rs779302353
NM_014363.6(SACS):c.8802C>T (p.Phe2934=)
NM_014363.6(SACS):c.8836A>G (p.Asn2946Asp) rs184407783
NM_014363.6(SACS):c.8838C>T (p.Asn2946=)
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.8880A>G (p.Leu2960=) rs1373611853
NM_014363.6(SACS):c.8883G>A (p.Ser2961=)
NM_014363.6(SACS):c.8888del (p.Phe2963fs) rs1555250872
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.8900G>A (p.Arg2967His)
NM_014363.6(SACS):c.8902C>T (p.Leu2968Phe)
NM_014363.6(SACS):c.8922A>G (p.Leu2974=) rs563864403
NM_014363.6(SACS):c.8925T>C (p.Tyr2975=)
NM_014363.6(SACS):c.8928T>C (p.Cys2976=)
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.8949T>C (p.Asn2983=)
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.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.9015C>T (p.Asp3005=)
NM_014363.6(SACS):c.9021C>T (p.His3007=)
NM_014363.6(SACS):c.9024T>G (p.Ser3008=)
NM_014363.6(SACS):c.9031A>G (p.Ile3011Val) rs377657177
NM_014363.6(SACS):c.9057T>C (p.Thr3019=)
NM_014363.6(SACS):c.9088_9089dup (p.Leu3030fs) rs1057517060
NM_014363.6(SACS):c.9090A>G (p.Leu3030=)
NM_014363.6(SACS):c.9093A>G (p.Leu3031=)
NM_014363.6(SACS):c.909A>G (p.Ala303=) rs41315020
NM_014363.6(SACS):c.9108A>G (p.Gln3036=)
NM_014363.6(SACS):c.9114T>A (p.Leu3038=)
NM_014363.6(SACS):c.9128A>G (p.Tyr3043Cys)
NM_014363.6(SACS):c.914_915del (p.Thr305fs)
NM_014363.6(SACS):c.9168T>C (p.Tyr3056=)
NM_014363.6(SACS):c.9173T>G (p.Leu3058Arg) rs758654165
NM_014363.6(SACS):c.921G>A (p.Leu307=)
NM_014363.6(SACS):c.9232A>G (p.Asn3078Asp)
NM_014363.6(SACS):c.9233del (p.Asn3078fs) rs1593125341
NM_014363.6(SACS):c.9246T>C (p.Cys3082=)
NM_014363.6(SACS):c.9249del (p.Leu3083_Ile3084insTer)
NM_014363.6(SACS):c.924C>G (p.Leu308=) rs368573394
NM_014363.6(SACS):c.9251T>C (p.Ile3084Thr)
NM_014363.6(SACS):c.9258A>G (p.Ala3086=)
NM_014363.6(SACS):c.9266C>T (p.Pro3089Leu) rs1593125290
NM_014363.6(SACS):c.9275A>T (p.Tyr3092Phe)
NM_014363.6(SACS):c.9276T>C (p.Tyr3092=)
NM_014363.6(SACS):c.927T>C (p.Phe309=)
NM_014363.6(SACS):c.9283C>G (p.Pro3095Ala)
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.9299C>A (p.Ser3100Tyr) rs150615169
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter) rs886041949
NM_014363.6(SACS):c.930G>T (p.Leu310=)
NM_014363.6(SACS):c.9324T>C (p.Pro3108=)
NM_014363.6(SACS):c.9332del (p.Asn3111fs)
NM_014363.6(SACS):c.9333T>C (p.Asn3111=) rs150532740
NM_014363.6(SACS):c.9339T>C (p.His3113=)
NM_014363.6(SACS):c.9345G>C (p.Gly3115=)
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.9372T>A (p.Thr3124=)
NM_014363.6(SACS):c.9375_9379del (p.Asn3125fs) rs1555250684
NM_014363.6(SACS):c.9377dup (p.Leu3128fs) rs1057516875
NM_014363.6(SACS):c.9378A>G (p.Leu3126=)
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.939G>A (p.Val313=)
NM_014363.6(SACS):c.93G>T (p.Val31=)
NM_014363.6(SACS):c.9403T>C (p.Leu3135=)
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser) rs371019314
NM_014363.6(SACS):c.9405A>G (p.Leu3135=)
NM_014363.6(SACS):c.9417T>C (p.Cys3139=)
NM_014363.6(SACS):c.9447del (p.Val3150fs) rs1555250653
NM_014363.6(SACS):c.944A>G (p.Asp315Gly) rs771115225
NM_014363.6(SACS):c.9465T>C (p.Leu3155=) rs1593125038
NM_014363.6(SACS):c.9492A>C (p.Gln3164His)
NM_014363.6(SACS):c.9498del (p.Phe3166fs) rs1555250642
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) rs202199411
NM_014363.6(SACS):c.9519T>G (p.Phe3173Leu)
NM_014363.6(SACS):c.951C>T (p.Ser317=)
NM_014363.6(SACS):c.9523ACA[1] (p.Thr3176del) rs1161557781
NM_014363.6(SACS):c.9525A>G (p.Thr3175=)
NM_014363.6(SACS):c.9531T>C (p.Tyr3177=)
NM_014363.6(SACS):c.9534T>C (p.His3178=)
NM_014363.6(SACS):c.9537_9541del (p.Glu3179fs) rs1064796097
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) rs200453385
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.9573A>G (p.Thr3191=)
NM_014363.6(SACS):c.9576_9580del (p.Leu3192fs)
NM_014363.6(SACS):c.9610A>G (p.Lys3204Glu)
NM_014363.6(SACS):c.9618A>G (p.Ala3206=)
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.9636C>T (p.Ser3212=)
NM_014363.6(SACS):c.964G>T (p.Glu322Ter) rs1593145590
NM_014363.6(SACS):c.9654A>G (p.Leu3218=)
NM_014363.6(SACS):c.9661G>A (p.Val3221Met)
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.9680A>C (p.Lys3227Thr) rs765635417
NM_014363.6(SACS):c.9696A>G (p.Thr3232=)
NM_014363.6(SACS):c.9699G>A (p.Lys3233=) rs1593124697
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.972C>T (p.Asp324=)
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.9742T>C (p.Trp3248Arg) rs137853018
NM_014363.6(SACS):c.9744G>A (p.Trp3248Ter)
NM_014363.6(SACS):c.9754A>G (p.Ser3252Gly) rs1593124621
NM_014363.6(SACS):c.9762T>A (p.Ser3254=)
NM_014363.6(SACS):c.9763_9764del (p.Val3255fs) rs1555250508
NM_014363.6(SACS):c.9765A>G (p.Val3255=)
NM_014363.6(SACS):c.9771G>A (p.Val3257=)
NM_014363.6(SACS):c.9774AGA[1] (p.Glu3259del) rs768958169
NM_014363.6(SACS):c.9778G>C (p.Asp3260His)
NM_014363.6(SACS):c.9779A>G (p.Asp3260Gly)
NM_014363.6(SACS):c.9788A>G (p.Glu3263Gly)
NM_014363.6(SACS):c.9801A>G (p.Thr3267=)
NM_014363.6(SACS):c.9818_9831del (p.Asp3273fs) rs1057516464
NM_014363.6(SACS):c.9822T>C (p.Thr3274=) rs771522497
NM_014363.6(SACS):c.9837A>G (p.Ala3279=)
NM_014363.6(SACS):c.9846A>C (p.Pro3282=)
NM_014363.6(SACS):c.9846A>G (p.Pro3282=) rs61753111
NM_014363.6(SACS):c.984A>G (p.Lys328=)
NM_014363.6(SACS):c.9852A>G (p.Thr3284=) rs147506904
NM_014363.6(SACS):c.9861T>C (p.Thr3287=)
NM_014363.6(SACS):c.9866C>G (p.Ser3289Ter)
NM_014363.6(SACS):c.9885T>A (p.Val3295=)
NM_014363.6(SACS):c.9887C>T (p.Pro3296Leu) rs779195622
NM_014363.6(SACS):c.9888T>G (p.Pro3296=)
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.9912C>T (p.Leu3304=) rs1593124372
NM_014363.6(SACS):c.9915C>T (p.Ser3305=)
NM_014363.6(SACS):c.9927T>C (p.Ile3309=)
NM_014363.6(SACS):c.9939A>G (p.Pro3313=) rs1593124327
NM_014363.6(SACS):c.993T>C (p.Phe331=)
NM_014363.6(SACS):c.9947A>C (p.Gln3316Pro)
NM_014363.6(SACS):c.9955A>G (p.Lys3319Glu) rs1566060408
NM_014363.6(SACS):c.9956_9957del (p.Lys3319fs) rs772704931
NM_014363.6(SACS):c.9956_9957dup (p.Val3320fs)
NM_014363.6(SACS):c.9972A>G (p.Leu3324=) rs772412510
NM_014363.6(SACS):c.9972A>T (p.Leu3324=)
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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