NM_003126.4(SPTA1):c.3487T>G (p.Ser1163Ala)
|
rs2482965
|
0.99361
|
NM_003126.4(SPTA1):c.126C>T (p.Val42=)
|
rs435080
|
0.97180
|
NM_003126.4(SPTA1):c.24+3A>G
|
rs2564858
|
0.97164
|
NM_003126.4(SPTA1):c.813-7A>T
|
rs325995
|
0.95672
|
NM_003126.4(SPTA1):c.942T>A (p.Ala314=)
|
rs325996
|
0.95473
|
NM_003126.4(SPTA1):c.4702T>C (p.Cys1568Arg)
|
rs863931
|
0.60775
|
NM_003126.4(SPTA1):c.7095A>G (p.Ala2365=)
|
rs2251969
|
0.52153
|
NM_003126.4(SPTA1):c.6794T>C (p.Ile2265Thr)
|
rs952094
|
0.52034
|
NM_003126.4(SPTA1):c.915T>C (p.Ser305=)
|
rs703121
|
0.49738
|
NM_003126.4(SPTA1):c.2874G>A (p.Leu958=)
|
rs857691
|
0.40606
|
NM_003126.4(SPTA1):c.5292C>A (p.Ala1764=)
|
rs3738791
|
0.34201
|
NM_003126.4(SPTA1):c.4195-12G>A
|
rs6702040
|
0.34186
|
NM_003126.4(SPTA1):c.5958C>T (p.Pro1986=)
|
rs3753068
|
0.33588
|
NM_003126.4(SPTA1):c.1350+14A>T
|
rs703116
|
0.31859
|
NM_003126.4(SPTA1):c.6531-12C>T
|
rs28525570
|
0.25447
|
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val)
|
rs3737515
|
0.25425
|
NM_003126.4(SPTA1):c.2493T>G (p.Leu831=)
|
rs2518493
|
0.24070
|
NM_003126.4(SPTA1):c.5077A>C (p.Lys1693Gln)
|
rs857725
|
0.23548
|
NM_003126.4(SPTA1):c.3570-12C>T
|
rs2246434
|
0.22246
|
NM_003126.4(SPTA1):c.2757A>G (p.Glu919=)
|
rs16840450
|
0.09495
|
NM_003126.4(SPTA1):c.2558C>G (p.Thr853Arg)
|
rs35121052
|
0.09487
|
NM_003126.4(SPTA1):c.2425A>G (p.Ile809Val)
|
rs7547313
|
0.09176
|
NM_003126.4(SPTA1):c.2102G>A (p.Arg701His)
|
rs12090314
|
0.08273
|
NM_003126.4(SPTA1):c.6549-22A>C
|
rs41273515
|
0.07257
|
NM_003126.4(SPTA1):c.6046C>T (p.Arg2016Cys)
|
rs78394850
|
0.05585
|
NM_003126.4(SPTA1):c.5992G>C (p.Ala1998Pro)
|
rs77877855
|
0.05556
|
NM_003126.4(SPTA1):c.6112C>T (p.Leu2038=)
|
rs75931146
|
0.05545
|
NM_003126.4(SPTA1):c.5507A>G (p.Asn1836Ser)
|
rs16830483
|
0.05541
|
NM_003126.4(SPTA1):c.454G>A (p.Asp152Asn)
|
rs16840544
|
0.03495
|
NM_003126.4(SPTA1):c.867T>C (p.Ser289=)
|
rs12083637
|
0.03494
|
NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp)
|
rs35948326
|
0.03419
|
NM_003126.4(SPTA1):c.2870C>T (p.Ala957Val)
|
rs34706737
|
0.03142
|
NM_003126.4(SPTA1):c.390+17T>C
|
rs116107257
|
0.03100
|
NM_003126.4(SPTA1):c.5388G>A (p.Gln1796=)
|
rs61140046
|
0.02445
|
NM_003126.4(SPTA1):c.958-10C>A
|
rs12085628
|
0.02300
|
NM_003126.4(SPTA1):c.2418G>A (p.Glu806=)
|
rs35318623
|
0.02245
|
NM_003126.4(SPTA1):c.3693C>T (p.Asp1231=)
|
rs34773716
|
0.02215
|
NM_003126.4(SPTA1):c.4453C>T (p.Leu1485Phe)
|
rs34973695
|
0.01729
|
NM_003126.4(SPTA1):c.2472C>T (p.Asp824=)
|
rs35856400
|
0.01721
|
NM_003126.4(SPTA1):c.2353C>A (p.Arg785=)
|
rs2022057
|
0.01562
|
NM_003126.4(SPTA1):c.3896+19C>T
|
rs76879596
|
0.01556
|
NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu)
|
rs7418956
|
0.01431
|
NM_003126.4(SPTA1):c.4490G>A (p.Gly1497Glu)
|
rs41273523
|
0.01332
|
NM_003126.4(SPTA1):c.2520G>C (p.Glu840Asp)
|
rs34577746
|
0.01305
|
NM_003126.4(SPTA1):c.3171G>A (p.Gln1057=)
|
rs35078963
|
0.01270
|
NM_003126.4(SPTA1):c.3989G>T (p.Arg1330Ile)
|
rs34214405
|
0.00972
|
NM_003126.4(SPTA1):c.6559A>G (p.Lys2187Glu)
|
rs111980420
|
0.00939
|
NM_003126.4(SPTA1):c.6530+15A>T
|
rs78561085
|
0.00935
|
NM_003126.4(SPTA1):c.6437A>G (p.Gln2146Arg)
|
rs138055271
|
0.00862
|
NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys)
|
rs148912436
|
0.00813
|
NM_003126.4(SPTA1):c.3037-14T>C
|
rs142102801
|
0.00723
|
NM_003126.4(SPTA1):c.1533A>G (p.Ala511=)
|
rs34446973
|
0.00709
|
NM_003126.4(SPTA1):c.441C>T (p.Thr147=)
|
rs73020287
|
0.00683
|
NM_003126.4(SPTA1):c.3149C>T (p.Pro1050Leu)
|
rs116297260
|
0.00678
|
NM_003126.4(SPTA1):c.1680G>C (p.Leu560=)
|
rs73020251
|
0.00621
|
NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp)
|
rs142775522
|
0.00499
|
NM_003126.4(SPTA1):c.5834-15G>A
|
rs192889943
|
0.00480
|
NM_003126.4(SPTA1):c.3160A>T (p.Thr1054Ser)
|
rs145054175
|
0.00453
|
NM_003126.4(SPTA1):c.6850G>A (p.Asp2284Asn)
|
rs138732899
|
0.00433
|
NM_003126.4(SPTA1):c.1078A>T (p.Thr360Ser)
|
rs34133563
|
0.00424
|
NM_003126.4(SPTA1):c.33G>C (p.Glu11Asp)
|
rs41273533
|
0.00424
|
NM_003126.4(SPTA1):c.3398G>C (p.Arg1133Pro)
|
rs35733059
|
0.00420
|
NM_003126.4(SPTA1):c.1600-10A>G
|
rs148156245
|
0.00410
|
NM_003126.4(SPTA1):c.5911G>A (p.Asp1971Asn)
|
rs116466258
|
0.00367
|
NM_003126.4(SPTA1):c.4477C>T (p.Arg1493Trp)
|
rs35237700
|
0.00325
|
NM_003126.4(SPTA1):c.679G>A (p.Glu227Lys)
|
rs199598260
|
0.00310
|
NM_003126.4(SPTA1):c.793A>G (p.Asn265Asp)
|
rs183647059
|
0.00307
|
NM_003126.4(SPTA1):c.1731G>T (p.Leu577Phe)
|
rs34211240
|
0.00291
|
NM_003126.4(SPTA1):c.5838T>C (p.Asp1946=)
|
rs200330662
|
0.00264
|
NM_003126.4(SPTA1):c.1817A>G (p.Asp606Gly)
|
rs149441716
|
0.00259
|
NM_003126.4(SPTA1):c.798A>G (p.Leu266=)
|
rs36058424
|
0.00250
|
NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His)
|
rs199612744
|
0.00249
|
NM_003126.4(SPTA1):c.4302G>A (p.Lys1434=)
|
rs77182042
|
0.00243
|
NM_003126.4(SPTA1):c.1181A>G (p.Asn394Ser)
|
rs111834376
|
0.00181
|
NM_003126.4(SPTA1):c.748C>T (p.Arg250Cys)
|
rs143459302
|
0.00169
|
NM_003126.4(SPTA1):c.7104G>T (p.Lys2368Asn)
|
rs112884419
|
0.00161
|
NM_003126.4(SPTA1):c.5118C>T (p.His1706=)
|
rs200945419
|
0.00159
|
NM_003126.4(SPTA1):c.5256G>A (p.Leu1752=)
|
rs141683960
|
0.00146
|
NM_003126.4(SPTA1):c.5378G>A (p.Arg1793Gln)
|
rs200938874
|
0.00136
|
NM_003126.4(SPTA1):c.1982G>A (p.Arg661His)
|
rs201845149
|
0.00134
|
NM_003126.4(SPTA1):c.6132G>C (p.Leu2044=)
|
rs186987240
|
0.00125
|
NM_003126.4(SPTA1):c.3062A>T (p.Asp1021Val)
|
rs200511900
|
0.00117
|
NM_003126.4(SPTA1):c.174C>T (p.Phe58=)
|
rs190704778
|
0.00110
|
NM_003126.4(SPTA1):c.2600C>A (p.Ala867Glu)
|
rs115877891
|
0.00108
|
NM_003126.4(SPTA1):c.373G>A (p.Ala125Thr)
|
rs201771255
|
0.00105
|
NM_003126.4(SPTA1):c.2655T>C (p.Arg885=)
|
rs368544526
|
0.00101
|
NM_003126.4(SPTA1):c.3357G>C (p.Lys1119Asn)
|
rs200230894
|
0.00098
|
NM_003126.4(SPTA1):c.2889C>T (p.Asn963=)
|
rs371639635
|
0.00094
|
NM_003126.4(SPTA1):c.4339-126A>G
|
rs376856911
|
0.00092
|
NM_003126.4(SPTA1):c.4591G>C (p.Ala1531Pro)
|
rs143779235
|
0.00092
|
NM_003126.4(SPTA1):c.4694T>A (p.Leu1565Gln)
|
rs202217097
|
0.00091
|
NM_003126.4(SPTA1):c.5310+17A>G
|
rs371671685
|
0.00091
|
NM_003126.4(SPTA1):c.5457A>G (p.Leu1819=)
|
rs186994154
|
0.00091
|
NM_003126.4(SPTA1):c.4564A>G (p.Thr1522Ala)
|
rs201910178
|
0.00073
|
NM_003126.4(SPTA1):c.4862T>A (p.Phe1621Tyr)
|
rs374298000
|
0.00068
|
NM_003126.4(SPTA1):c.3389A>G (p.Asn1130Ser)
|
rs202016242
|
0.00066
|
NM_003126.4(SPTA1):c.7068A>C (p.Glu2356Asp)
|
rs78598639
|
0.00054
|
NM_003126.4(SPTA1):c.3960C>T (p.Asp1320=)
|
rs186415745
|
0.00049
|
NM_003126.4(SPTA1):c.4711T>G (p.Cys1571Gly)
|
rs201601992
|
0.00049
|
NM_003126.4(SPTA1):c.3742C>T (p.Arg1248Trp)
|
rs200714808
|
0.00045
|
NM_003126.4(SPTA1):c.6896G>T (p.Cys2299Phe)
|
rs201514157
|
0.00041
|
NM_003126.4(SPTA1):c.2608G>A (p.Val870Met)
|
rs140291959
|
0.00039
|
NM_003126.4(SPTA1):c.1351-4A>G
|
rs200868774
|
0.00037
|
NM_003126.4(SPTA1):c.5778C>T (p.Asp1926=)
|
rs146520285
|
0.00036
|
NM_003126.4(SPTA1):c.1688G>A (p.Arg563Gln)
|
rs202243588
|
0.00032
|
NM_003126.4(SPTA1):c.4240C>T (p.Arg1414Cys)
|
rs201399968
|
0.00026
|
NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro)
|
rs121918643
|
0.00019
|
NM_003126.4(SPTA1):c.5081G>A (p.Arg1694His)
|
rs201822255
|
0.00018
|
NM_003126.4(SPTA1):c.2506A>G (p.Arg836Gly)
|
rs201844450
|
0.00017
|
NM_003126.4(SPTA1):c.452G>A (p.Gly151Asp)
|
rs199725919
|
0.00016
|
NM_003126.4(SPTA1):c.6026G>A (p.Arg2009His)
|
rs188580757
|
0.00014
|
NM_003126.4(SPTA1):c.749G>A (p.Arg250His)
|
rs759192785
|
0.00014
|
NM_003126.4(SPTA1):c.143A>G (p.Lys48Arg)
|
rs121918644
|
0.00011
|
NM_003126.4(SPTA1):c.1672G>A (p.Asp558Asn)
|
rs200529208
|
0.00010
|
NM_003126.4(SPTA1):c.4875+13G>A
|
rs776588829
|
0.00009
|
NM_003126.4(SPTA1):c.3397C>T (p.Arg1133Trp)
|
rs768966753
|
0.00006
|
NM_003126.4(SPTA1):c.54G>A (p.Leu18=)
|
rs199690643
|
0.00006
|
NM_003126.4(SPTA1):c.858A>G (p.Val286=)
|
rs370463832
|
0.00006
|
NM_003126.4(SPTA1):c.1669C>T (p.Arg557Cys)
|
rs143816549
|
0.00005
|
NM_003126.4(SPTA1):c.1814C>A (p.Ala605Glu)
|
rs929351807
|
0.00005
|
NM_003126.4(SPTA1):c.1904C>A (p.Thr635Asn)
|
rs751943864
|
0.00004
|
NM_003126.4(SPTA1):c.2029A>G (p.Lys677Glu)
|
rs761960429
|
0.00004
|
NM_003126.4(SPTA1):c.326C>T (p.Ser109Phe)
|
rs3737521
|
0.00004
|
NM_003126.4(SPTA1):c.5303C>T (p.Ala1768Val)
|
rs762636926
|
0.00004
|
NM_003126.4(SPTA1):c.803G>A (p.Arg268Gln)
|
rs374770233
|
0.00004
|
NM_003126.4(SPTA1):c.1309G>A (p.Val437Met)
|
rs147677656
|
0.00003
|
NM_003126.4(SPTA1):c.2542C>T (p.Arg848Cys)
|
rs781647129
|
0.00003
|
NM_003126.4(SPTA1):c.5915C>A (p.Thr1972Asn)
|
rs201463616
|
0.00003
|
NM_003126.4(SPTA1):c.1124T>C (p.Phe375Ser)
|
rs929328527
|
0.00002
|
NM_003126.4(SPTA1):c.209T>G (p.Met70Arg)
|
rs1469938477
|
0.00002
|
NM_003126.4(SPTA1):c.2894G>T (p.Cys965Phe)
|
rs765999382
|
0.00002
|
NM_003126.4(SPTA1):c.3019C>T (p.Leu1007Phe)
|
rs201324641
|
0.00002
|
NM_003126.4(SPTA1):c.5834-13T>C
|
rs370452867
|
0.00002
|
NM_003126.4(SPTA1):c.1086A>G (p.Arg362=)
|
rs1374378636
|
0.00001
|
NM_003126.4(SPTA1):c.1471T>C (p.Trp491Arg)
|
rs1461673453
|
0.00001
|
NM_003126.4(SPTA1):c.2671C>T (p.Arg891Ter)
|
rs755630903
|
0.00001
|
NM_003126.4(SPTA1):c.2823T>A (p.His941Gln)
|
rs1478000749
|
0.00001
|
NM_003126.4(SPTA1):c.2876G>A (p.Arg959Gln)
|
rs754523316
|
0.00001
|
NM_003126.4(SPTA1):c.2954T>C (p.Leu985Ser)
|
rs774722673
|
0.00001
|
NM_003126.4(SPTA1):c.3570-11T>C
|
rs551180246
|
0.00001
|
NM_003126.4(SPTA1):c.4339-2A>C
|
rs368931075
|
0.00001
|
NM_003126.4(SPTA1):c.4975C>T (p.Arg1659Ter)
|
rs1394141324
|
0.00001
|
NM_003126.4(SPTA1):c.551T>G (p.Val184Gly)
|
rs746827368
|
0.00001
|
NM_003126.4(SPTA1):c.5620C>T (p.Arg1874Ter)
|
rs749880846
|
0.00001
|
NM_003126.4(SPTA1):c.6631C>T (p.Arg2211Cys)
|
rs773800556
|
0.00001
|
NM_003126.4(SPTA1):c.6634C>T (p.Gln2212Ter)
|
rs1571371125
|
0.00001
|
NM_003126.4(SPTA1):c.82C>T (p.Arg28Cys)
|
rs121918642
|
0.00001
|
NM_003126.4(SPTA1):c.101G>C (p.Arg34Pro)
|
rs567686069
|
|
NM_003126.4(SPTA1):c.1053C>G (p.Ser351Arg)
|
rs766046816
|
|
NM_003126.4(SPTA1):c.1088A>G (p.Tyr363Cys)
|
|
|
NM_003126.4(SPTA1):c.121C>A (p.Arg41=)
|
rs121918640
|
|
NM_003126.4(SPTA1):c.131A>G (p.Glu44Gly)
|
|
|
NM_003126.4(SPTA1):c.1350+1G>C
|
|
|
NM_003126.4(SPTA1):c.1350+4A>C
|
|
|
NM_003126.4(SPTA1):c.1552C>T (p.His518Tyr)
|
|
|
NM_003126.4(SPTA1):c.1598T>C (p.Ile533Thr)
|
|
|
NM_003126.4(SPTA1):c.1703G>A (p.Arg568His)
|
rs200829664
|
|
NM_003126.4(SPTA1):c.1778del (p.Asp593fs)
|
rs2101908951
|
|
NM_003126.4(SPTA1):c.1833+1G>A
|
rs1035389616
|
|
NM_003126.4(SPTA1):c.1957T>C (p.Tyr653His)
|
|
|
NM_003126.4(SPTA1):c.2134T>G (p.Ser712Ala)
|
|
|
NM_003126.4(SPTA1):c.2160C>T (p.Ala720=)
|
rs199815523
|
|
NM_003126.4(SPTA1):c.216A>G (p.Lys72=)
|
rs1655075582
|
|
NM_003126.4(SPTA1):c.24+1G>A
|
rs772644757
|
|
NM_003126.4(SPTA1):c.2506A>T (p.Arg836Ter)
|
|
|
NM_003126.4(SPTA1):c.25G>C (p.Val9Leu)
|
rs111321033
|
|
NM_003126.4(SPTA1):c.2806-3_2806-1del
|
rs1652849551
|
|
NM_003126.4(SPTA1):c.2818A>T (p.Lys940Ter)
|
rs1652848700
|
|
NM_003126.4(SPTA1):c.2899-14C>T
|
|
|
NM_003126.4(SPTA1):c.2954del (p.Leu985fs)
|
|
|
NM_003126.4(SPTA1):c.3134G>A (p.Arg1045Gln)
|
|
|
NM_003126.4(SPTA1):c.3257del (p.Leu1086fs)
|
rs1652531375
|
|
NM_003126.4(SPTA1):c.3720C>T (p.Thr1240=)
|
|
|
NM_003126.4(SPTA1):c.376C>T (p.His126Tyr)
|
|
|
NM_003126.4(SPTA1):c.3800T>G (p.Leu1267Arg)
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rs1469105508
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NM_003126.4(SPTA1):c.3896G>A (p.Arg1299Lys)
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NM_003126.4(SPTA1):c.390+4T>C
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NM_003126.4(SPTA1):c.390+9A>G
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NM_003126.4(SPTA1):c.3909C>A (p.Asn1303Lys)
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rs1651939630
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NM_003126.4(SPTA1):c.3997-5C>T
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NM_003126.4(SPTA1):c.401A>G (p.Glu134Gly)
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NM_003126.4(SPTA1):c.4174G>C (p.Asp1392His)
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NM_003126.4(SPTA1):c.438G>C (p.Leu146=)
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rs1280197961
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NM_003126.4(SPTA1):c.459_460insATGCTGCGGGCCCTGCTGTTAGAGCTGACCCTGGAGAAGGGTGACCAG (p.Gln153_Leu154insMetLeuArgAlaLeuLeuLeuGluLeuThrLeuGluLysGlyAspGln)
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rs2101946108
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NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup)
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rs757679761
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NM_003126.4(SPTA1):c.481C>T (p.Gln161Ter)
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rs1654812809
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NM_003126.4(SPTA1):c.4833G>A (p.Arg1611=)
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rs145288947
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NM_003126.4(SPTA1):c.4875+12C>T
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rs139797540
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NM_003126.4(SPTA1):c.5020C>T (p.Leu1674Phe)
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NM_003126.4(SPTA1):c.5212_5213dup (p.Gln1739fs)
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NM_003126.4(SPTA1):c.5386C>T (p.Gln1796Ter)
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rs763899069
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NM_003126.4(SPTA1):c.5431C>T (p.Arg1811Ter)
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NM_003126.4(SPTA1):c.5433-19G>C
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NM_003126.4(SPTA1):c.5834-18A>G
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NM_003126.4(SPTA1):c.5834C>T (p.Ala1945Val)
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NM_003126.4(SPTA1):c.6120G>A (p.Lys2040=)
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rs1650012277
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NM_003126.4(SPTA1):c.6121-11del
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rs548425429
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NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp)
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rs41273519
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NM_003126.4(SPTA1):c.6533C>T (p.Ala2178Val)
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NM_003126.4(SPTA1):c.6549-12G>A
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rs857716
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NM_003126.4(SPTA1):c.6714G>T (p.Leu2238Phe)
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rs1649486162
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NM_003126.4(SPTA1):c.6773A>G (p.Gln2258Arg)
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rs1571370675
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NM_003126.4(SPTA1):c.6789-8del
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rs5778083
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NM_003126.4(SPTA1):c.6871del (p.Arg2290_Leu2291insTer)
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rs1396249069
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NM_003126.4(SPTA1):c.7072G>A (p.Glu2358Lys)
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rs1557917325
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NM_003126.4(SPTA1):c.7094_7095delinsAG (p.Ala2365Glu)
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rs2101744936
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NM_003126.4(SPTA1):c.790G>C (p.Ala264Pro)
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NM_003126.4(SPTA1):c.813-6C>G
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rs1571523078
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NM_003126.4(SPTA1):c.82C>A (p.Arg28Ser)
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rs121918642
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NM_003126.4(SPTA1):c.83G>A (p.Arg28His)
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rs121918641
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NM_003126.4(SPTA1):c.83G>T (p.Arg28Leu)
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rs121918641
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NM_003126.4(SPTA1):c.853C>A (p.Pro285Thr)
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rs150007668
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NM_003126.4(SPTA1):c.883G>A (p.Asp295Asn)
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rs1654495744
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NM_003126.4(SPTA1):c.957G>A (p.Lys319=)
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rs752690778
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