NM_003126.4(SPTA1):c.4453C>T (p.Leu1485Phe)
|
rs34973695
|
0.01729
|
NM_003126.4(SPTA1):c.4490G>A (p.Gly1497Glu)
|
rs41273523
|
0.01332
|
NM_003126.4(SPTA1):c.5665-24T>C
|
rs41273521
|
0.01019
|
NM_003126.4(SPTA1):c.6437A>G (p.Gln2146Arg)
|
rs138055271
|
0.00862
|
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.5911G>A (p.Asp1971Asn)
|
rs116466258
|
0.00367
|
NM_003126.4(SPTA1):c.1817A>G (p.Asp606Gly)
|
rs149441716
|
0.00259
|
NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His)
|
rs199612744
|
0.00249
|
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.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.775G>A (p.Ala259Thr)
|
rs187932146
|
0.00116
|
NM_003126.4(SPTA1):c.192T>A (p.Asp64Glu)
|
rs200860772
|
0.00114
|
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.3357G>C (p.Lys1119Asn)
|
rs200230894
|
0.00098
|
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.3167G>T (p.Arg1056Leu)
|
rs188875641
|
0.00076
|
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.4711T>G (p.Cys1571Gly)
|
rs201601992
|
0.00049
|
NM_003126.4(SPTA1):c.3742C>T (p.Arg1248Trp)
|
rs200714808
|
0.00045
|
NM_003126.4(SPTA1):c.3829C>T (p.Arg1277Cys)
|
rs143642542
|
0.00041
|
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.47A>T (p.Lys16Met)
|
rs201634881
|
0.00039
|
NM_003126.4(SPTA1):c.5410C>T (p.Leu1804Phe)
|
rs116959874
|
0.00038
|
NM_003126.4(SPTA1):c.1351-4A>G
|
rs200868774
|
0.00037
|
NM_003126.4(SPTA1):c.1688G>A (p.Arg563Gln)
|
rs202243588
|
0.00032
|
NM_003126.4(SPTA1):c.6235C>T (p.Arg2079Trp)
|
rs372075053
|
0.00032
|
NM_003126.4(SPTA1):c.3839A>G (p.Asp1280Gly)
|
rs200890386
|
0.00031
|
NM_003126.4(SPTA1):c.4240C>T (p.Arg1414Cys)
|
rs201399968
|
0.00026
|
NM_003126.4(SPTA1):c.3188+8C>G
|
rs199558386
|
0.00024
|
NM_003126.4(SPTA1):c.329A>T (p.Glu110Val)
|
rs368253777
|
0.00024
|
NM_003126.4(SPTA1):c.1490C>A (p.Ala497Asp)
|
rs199604294
|
0.00023
|
NM_003126.4(SPTA1):c.6851A>G (p.Asp2284Gly)
|
rs374589766
|
0.00021
|
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.3841C>T (p.Arg1281Cys)
|
rs199685020
|
0.00016
|
NM_003126.4(SPTA1):c.452G>A (p.Gly151Asp)
|
rs199725919
|
0.00016
|
NM_003126.4(SPTA1):c.812+20T>C
|
rs140701005
|
0.00016
|
NM_003126.4(SPTA1):c.4850G>A (p.Arg1617Gln)
|
rs564887323
|
0.00014
|
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.4418C>T (p.Thr1473Met)
|
rs187916559
|
0.00012
|
NM_003126.4(SPTA1):c.143A>G (p.Lys48Arg)
|
rs121918644
|
0.00011
|
NM_003126.4(SPTA1):c.4159C>T (p.Arg1387Cys)
|
rs372067263
|
0.00011
|
NM_003126.4(SPTA1):c.3670C>T (p.Arg1224Trp)
|
rs567984472
|
0.00009
|
NM_003126.4(SPTA1):c.3697G>A (p.Val1233Ile)
|
rs369125471
|
0.00009
|
NM_003126.4(SPTA1):c.4004G>A (p.Arg1335His)
|
rs750860161
|
0.00009
|
NM_003126.4(SPTA1):c.4347G>T (p.Lys1449Asn)
|
rs375506528
|
0.00009
|
NM_003126.4(SPTA1):c.4981-25C>T
|
rs746819129
|
0.00009
|
NM_003126.4(SPTA1):c.122G>A (p.Arg41Gln)
|
rs778903567
|
0.00006
|
NM_003126.4(SPTA1):c.2267T>C (p.Ile756Thr)
|
rs118088187
|
0.00006
|
NM_003126.4(SPTA1):c.2612C>T (p.Ala871Val)
|
rs375610306
|
0.00006
|
NM_003126.4(SPTA1):c.3397C>T (p.Arg1133Trp)
|
rs768966753
|
0.00006
|
NM_003126.4(SPTA1):c.5311-4T>A
|
rs544472935
|
0.00006
|
NM_003126.4(SPTA1):c.6136G>A (p.Val2046Met)
|
rs202105292
|
0.00006
|
NM_003126.4(SPTA1):c.6991A>G (p.Lys2331Glu)
|
rs747391167
|
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.1175C>T (p.Ala392Val)
|
rs748917509
|
0.00004
|
NM_003126.4(SPTA1):c.1691G>A (p.Arg564Gln)
|
rs762400241
|
0.00004
|
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.2588-3T>C
|
rs375142282
|
0.00004
|
NM_003126.4(SPTA1):c.326C>T (p.Ser109Phe)
|
rs3737521
|
0.00004
|
NM_003126.4(SPTA1):c.3830G>A (p.Arg1277His)
|
rs201407861
|
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.1409G>A (p.Arg470His)
|
rs370498187
|
0.00003
|
NM_003126.4(SPTA1):c.1910T>C (p.Leu637Pro)
|
rs763611798
|
0.00003
|
NM_003126.4(SPTA1):c.2542C>T (p.Arg848Cys)
|
rs781647129
|
0.00003
|
NM_003126.4(SPTA1):c.5270G>A (p.Arg1757His)
|
rs779823270
|
0.00003
|
NM_003126.4(SPTA1):c.5915C>A (p.Thr1972Asn)
|
rs201463616
|
0.00003
|
NM_003126.4(SPTA1):c.781T>C (p.Ser261Pro)
|
rs121918636
|
0.00003
|
NM_003126.4(SPTA1):c.1124T>C (p.Phe375Ser)
|
rs929328527
|
0.00002
|
NM_003126.4(SPTA1):c.1753C>A (p.Gln585Lys)
|
rs368469337
|
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.391G>A (p.Ala131Thr)
|
rs199500418
|
0.00002
|
NM_003126.4(SPTA1):c.4421G>A (p.Arg1474Gln)
|
rs768582381
|
0.00002
|
NM_003126.4(SPTA1):c.5029G>A (p.Gly1677Arg)
|
rs771033064
|
0.00002
|
NM_003126.4(SPTA1):c.1108T>C (p.Tyr370His)
|
rs1261923403
|
0.00001
|
NM_003126.4(SPTA1):c.1412A>C (p.Gln471Pro)
|
rs121918635
|
0.00001
|
NM_003126.4(SPTA1):c.1471T>C (p.Trp491Arg)
|
rs1461673453
|
0.00001
|
NM_003126.4(SPTA1):c.2245C>A (p.Leu749Met)
|
rs777149969
|
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.2914C>A (p.Pro972Thr)
|
rs148064417
|
0.00001
|
NM_003126.4(SPTA1):c.2954T>C (p.Leu985Ser)
|
rs774722673
|
0.00001
|
NM_003126.4(SPTA1):c.3314A>C (p.Asn1105Thr)
|
rs200193956
|
0.00001
|
NM_003126.4(SPTA1):c.4140G>C (p.Leu1380Phe)
|
rs1444515159
|
0.00001
|
NM_003126.4(SPTA1):c.4637A>G (p.His1546Arg)
|
rs568501725
|
0.00001
|
NM_003126.4(SPTA1):c.5040C>T (p.Asn1680=)
|
rs749363866
|
0.00001
|
NM_003126.4(SPTA1):c.5432G>A (p.Arg1811Gln)
|
rs748672916
|
0.00001
|
NM_003126.4(SPTA1):c.551T>G (p.Val184Gly)
|
rs746827368
|
0.00001
|
NM_003126.4(SPTA1):c.5786C>G (p.Ala1929Gly)
|
rs199547344
|
0.00001
|
NM_003126.4(SPTA1):c.6359C>G (p.Thr2120Ser)
|
rs182897201
|
0.00001
|
NM_003126.4(SPTA1):c.6631C>T (p.Arg2211Cys)
|
rs773800556
|
0.00001
|
NM_003126.4(SPTA1):c.6868C>T (p.Arg2290Cys)
|
rs553043635
|
0.00001
|
NC_000001.10:g.(?_158641113)_(158646105_?)del
|
|
|
NM_003126.4(SPTA1):c.-58CT[6]
|
|
|
NM_003126.4(SPTA1):c.1038A>T (p.Glu346Asp)
|
|
|
NM_003126.4(SPTA1):c.1053C>G (p.Ser351Arg)
|
rs766046816
|
|
NM_003126.4(SPTA1):c.1085G>A (p.Arg362Lys)
|
rs201026759
|
|
NM_003126.4(SPTA1):c.1088A>G (p.Tyr363Cys)
|
|
|
NM_003126.4(SPTA1):c.1115A>G (p.Tyr372Cys)
|
|
|
NM_003126.4(SPTA1):c.1121G>A (p.Arg374Gln)
|
|
|
NM_003126.4(SPTA1):c.113T>C (p.Phe38Ser)
|
|
|
NM_003126.4(SPTA1):c.1145T>C (p.Leu382Pro)
|
|
|
NM_003126.4(SPTA1):c.1151G>C (p.Gly384Ala)
|
|
|
NM_003126.4(SPTA1):c.1168A>C (p.Thr390Pro)
|
|
|
NM_003126.4(SPTA1):c.121C>A (p.Arg41=)
|
rs121918640
|
|
NM_003126.4(SPTA1):c.1243C>T (p.His415Tyr)
|
|
|
NM_003126.4(SPTA1):c.1248+4G>A
|
rs2101924250
|
|
NM_003126.4(SPTA1):c.1250A>G (p.His417Arg)
|
|
|
NM_003126.4(SPTA1):c.1267G>A (p.Asp423Asn)
|
|
|
NM_003126.4(SPTA1):c.1290T>G (p.Asp430Glu)
|
|
|
NM_003126.4(SPTA1):c.131A>G (p.Glu44Gly)
|
|
|
NM_003126.4(SPTA1):c.1342C>T (p.Arg448Trp)
|
|
|
NM_003126.4(SPTA1):c.1350+4A>C
|
|
|
NM_003126.4(SPTA1):c.1366AAC[1] (p.Asn457del)
|
rs2101917221
|
|
NM_003126.4(SPTA1):c.136G>T (p.Gly46Cys)
|
|
|
NM_003126.4(SPTA1):c.1370A>G (p.Asn457Ser)
|
|
|
NM_003126.4(SPTA1):c.1398C>T (p.Asp466=)
|
|
|
NM_003126.4(SPTA1):c.1403G>C (p.Arg468Pro)
|
rs372937123
|
|
NM_003126.4(SPTA1):c.1406_1408del (p.His469del)
|
rs775280006
|
|
NM_003126.4(SPTA1):c.1419G>T (p.Glu473Asp)
|
|
|
NM_003126.4(SPTA1):c.1463T>C (p.Val488Ala)
|
rs754575328
|
|
NM_003126.4(SPTA1):c.1489-12T>A
|
|
|
NM_003126.4(SPTA1):c.1490C>G (p.Ala497Gly)
|
rs199604294
|
|
NM_003126.4(SPTA1):c.1513G>C (p.Gly505Arg)
|
|
|
NM_003126.4(SPTA1):c.1552C>T (p.His518Tyr)
|
|
|
NM_003126.4(SPTA1):c.1598T>C (p.Ile533Thr)
|
|
|
NM_003126.4(SPTA1):c.1670G>A (p.Arg557His)
|
|
|
NM_003126.4(SPTA1):c.1675G>A (p.Gly559Arg)
|
|
|
NM_003126.4(SPTA1):c.1702C>T (p.Arg568Cys)
|
|
|
NM_003126.4(SPTA1):c.1703G>A (p.Arg568His)
|
rs200829664
|
|
NM_003126.4(SPTA1):c.1703G>C (p.Arg568Pro)
|
rs200829664
|
|
NM_003126.4(SPTA1):c.1723C>T (p.Arg575Cys)
|
|
|
NM_003126.4(SPTA1):c.1747C>T (p.Leu583Phe)
|
|
|
NM_003126.4(SPTA1):c.1773A>G (p.Ser591=)
|
|
|
NM_003126.4(SPTA1):c.179G>C (p.Arg60Pro)
|
|
|
NM_003126.4(SPTA1):c.1900A>G (p.Lys634Glu)
|
|
|
NM_003126.4(SPTA1):c.1902G>T (p.Lys634Asn)
|
rs374442926
|
|
NM_003126.4(SPTA1):c.1913A>C (p.Glu638Ala)
|
|
|
NM_003126.4(SPTA1):c.1920A>G (p.Ile640Met)
|
|
|
NM_003126.4(SPTA1):c.1957T>C (p.Tyr653His)
|
|
|
NM_003126.4(SPTA1):c.1985T>C (p.Leu662Pro)
|
|
|
NM_003126.4(SPTA1):c.199A>G (p.Lys67Glu)
|
|
|
NM_003126.4(SPTA1):c.1A>T (p.Met1Leu)
|
|
|
NM_003126.4(SPTA1):c.2001C>A (p.Ser667Arg)
|
|
|
NM_003126.4(SPTA1):c.202T>A (p.Trp68Arg)
|
rs2101958016
|
|
NM_003126.4(SPTA1):c.2036A>C (p.Lys679Thr)
|
|
|
NM_003126.4(SPTA1):c.2063A>G (p.Gln688Arg)
|
|
|
NM_003126.4(SPTA1):c.2101C>A (p.Arg701Ser)
|
rs201048261
|
|
NM_003126.4(SPTA1):c.2119G>A (p.Glu707Lys)
|
|
|
NM_003126.4(SPTA1):c.2134T>G (p.Ser712Ala)
|
|
|
NM_003126.4(SPTA1):c.2146G>A (p.Gly716Arg)
|
|
|
NM_003126.4(SPTA1):c.216A>G (p.Lys72=)
|
rs1655075582
|
|
NM_003126.4(SPTA1):c.2182A>G (p.Lys728Glu)
|
|
|
NM_003126.4(SPTA1):c.2204C>T (p.Ala735Val)
|
|
|
NM_003126.4(SPTA1):c.2216G>A (p.Arg739His)
|
|
|
NM_003126.4(SPTA1):c.2221-24G>T
|
rs138471111
|
|
NM_003126.4(SPTA1):c.2351C>G (p.Thr784Ser)
|
|
|
NM_003126.4(SPTA1):c.2443T>A (p.Ser815Thr)
|
|
|
NM_003126.4(SPTA1):c.25-3C>G
|
|
|
NM_003126.4(SPTA1):c.2501G>A (p.Arg834Lys)
|
|
|
NM_003126.4(SPTA1):c.2525T>A (p.Ile842Asn)
|
|
|
NM_003126.4(SPTA1):c.2588-7T>A
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NM_003126.4(SPTA1):c.25G>C (p.Val9Leu)
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rs111321033
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NM_003126.4(SPTA1):c.25G>T (p.Val9Phe)
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rs111321033
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NM_003126.4(SPTA1):c.2660G>A (p.Arg887Gln)
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NM_003126.4(SPTA1):c.2665G>T (p.Ala889Ser)
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NM_003126.4(SPTA1):c.2699A>G (p.Gln900Arg)
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NM_003126.4(SPTA1):c.2768A>G (p.Asp923Gly)
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NM_003126.4(SPTA1):c.2805+4A>T
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NM_003126.4(SPTA1):c.2831T>C (p.Phe944Ser)
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NM_003126.4(SPTA1):c.2842C>T (p.Leu948Phe)
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NM_003126.4(SPTA1):c.2874_2875delinsAT (p.Arg959Trp)
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NM_003126.4(SPTA1):c.2905C>G (p.Gln969Glu)
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NM_003126.4(SPTA1):c.2927T>C (p.Val976Ala)
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NM_003126.4(SPTA1):c.3123G>A (p.Met1041Ile)
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rs1308011828
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NM_003126.4(SPTA1):c.3134G>A (p.Arg1045Gln)
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NM_003126.4(SPTA1):c.3190T>C (p.Tyr1064His)
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NM_003126.4(SPTA1):c.3193C>T (p.Arg1065Cys)
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NM_003126.4(SPTA1):c.3317C>G (p.Thr1106Ser)
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NM_003126.4(SPTA1):c.3352A>G (p.Lys1118Glu)
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NM_003126.4(SPTA1):c.3369C>G (p.Phe1123Leu)
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NM_003126.4(SPTA1):c.3377A>G (p.Asp1126Gly)
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NM_003126.4(SPTA1):c.3437T>C (p.Phe1146Ser)
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NM_003126.4(SPTA1):c.3473G>A (p.Arg1158Gln)
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NM_003126.4(SPTA1):c.3485A>C (p.Asn1162Thr)
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NM_003126.4(SPTA1):c.3514G>T (p.Ala1172Ser)
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NM_003126.4(SPTA1):c.3529C>A (p.Gln1177Lys)
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NM_003126.4(SPTA1):c.3622G>A (p.Ala1208Thr)
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NM_003126.4(SPTA1):c.3662T>C (p.Leu1221Pro)
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NM_003126.4(SPTA1):c.3674A>G (p.His1225Arg)
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NM_003126.4(SPTA1):c.3699A>G (p.Val1233=)
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NM_003126.4(SPTA1):c.3700C>T (p.Pro1234Ser)
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NM_003126.4(SPTA1):c.370T>A (p.Ser124Thr)
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NM_003126.4(SPTA1):c.3710A>C (p.Asp1237Ala)
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NM_003126.4(SPTA1):c.3730G>A (p.Glu1244Lys)
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NM_003126.4(SPTA1):c.3751G>A (p.Glu1251Lys)
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NM_003126.4(SPTA1):c.376C>T (p.His126Tyr)
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NM_003126.4(SPTA1):c.3787C>G (p.Gln1263Glu)
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rs1553229990
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NM_003126.4(SPTA1):c.379G>A (p.Glu127Lys)
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NM_003126.4(SPTA1):c.3800T>G (p.Leu1267Arg)
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rs1469105508
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NM_003126.4(SPTA1):c.3841C>G (p.Arg1281Gly)
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NM_003126.4(SPTA1):c.3842G>A (p.Arg1281His)
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NM_003126.4(SPTA1):c.3880T>C (p.Phe1294Leu)
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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.3909C>A (p.Asn1303Lys)
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rs1651939630
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NM_003126.4(SPTA1):c.3929G>T (p.Gly1310Val)
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NM_003126.4(SPTA1):c.3952G>C (p.Ala1318Pro)
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rs2101838875
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NM_003126.4(SPTA1):c.401A>G (p.Glu134Gly)
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NM_003126.4(SPTA1):c.4058C>T (p.Ala1353Val)
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NM_003126.4(SPTA1):c.409C>A (p.Arg137Ser)
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NM_003126.4(SPTA1):c.409C>T (p.Arg137Cys)
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NM_003126.4(SPTA1):c.410G>A (p.Arg137His)
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rs200716254
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NM_003126.4(SPTA1):c.4174G>C (p.Asp1392His)
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NM_003126.4(SPTA1):c.4182C>T (p.Cys1394=)
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rs2101837185
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NM_003126.4(SPTA1):c.4240C>G (p.Arg1414Gly)
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rs201399968
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NM_003126.4(SPTA1):c.4298T>C (p.Met1433Thr)
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NM_003126.4(SPTA1):c.4306C>T (p.Arg1436Trp)
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NM_003126.4(SPTA1):c.4339-188C>G
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rs979512757
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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.4408G>A (p.Glu1470Lys)
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NM_003126.4(SPTA1):c.4419_4420delinsTT (p.Arg1474Trp)
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NM_003126.4(SPTA1):c.4442_4443insTCG (p.Asp1480_Arg1481insSer)
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NM_003126.4(SPTA1):c.4448A>G (p.Lys1483Arg)
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NM_003126.4(SPTA1):c.4480A>G (p.Thr1494Ala)
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NM_003126.4(SPTA1):c.4484A>C (p.Lys1495Thr)
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rs2101830005
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NM_003126.4(SPTA1):c.4517A>G (p.Tyr1506Cys)
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NM_003126.4(SPTA1):c.4520G>A (p.Arg1507Gln)
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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.4605+4del
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rs756036039
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NM_003126.4(SPTA1):c.466C>T (p.Arg156Trp)
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NM_003126.4(SPTA1):c.4676T>C (p.Ile1559Thr)
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NM_003126.4(SPTA1):c.4702_4703inv (p.Cys1568His)
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NM_003126.4(SPTA1):c.4733T>A (p.Met1578Lys)
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NM_003126.4(SPTA1):c.4757A>C (p.Lys1586Thr)
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NM_003126.4(SPTA1):c.4760A>G (p.Glu1587Gly)
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NM_003126.4(SPTA1):c.4768G>C (p.Asp1590His)
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NM_003126.4(SPTA1):c.4789A>G (p.Asn1597Asp)
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NM_003126.4(SPTA1):c.4833G>T (p.Arg1611Ser)
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NM_003126.4(SPTA1):c.4877C>A (p.Ala1626Glu)
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NM_003126.4(SPTA1):c.491_505del (p.Val164_Ala168del)
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NM_003126.4(SPTA1):c.4924G>A (p.Ala1642Thr)
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NM_003126.4(SPTA1):c.4981-12G>A
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NM_003126.4(SPTA1):c.4984G>T (p.Ala1662Ser)
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NM_003126.4(SPTA1):c.4995C>A (p.Asp1665Glu)
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NM_003126.4(SPTA1):c.5020C>T (p.Leu1674Phe)
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NM_003126.4(SPTA1):c.5030G>A (p.Gly1677Glu)
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rs1651232252
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NM_003126.4(SPTA1):c.5040C>A (p.Asn1680Lys)
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NM_003126.4(SPTA1):c.5171A>G (p.Asp1724Gly)
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NM_003126.4(SPTA1):c.5180C>T (p.Ser1727Phe)
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NM_003126.4(SPTA1):c.5190-26C>G
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rs777919453
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NM_003126.4(SPTA1):c.5221T>A (p.Tyr1741Asn)
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NM_003126.4(SPTA1):c.5238G>C (p.Gln1746His)
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NM_003126.4(SPTA1):c.5238G>T (p.Gln1746His)
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NM_003126.4(SPTA1):c.5270G>T (p.Arg1757Leu)
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NM_003126.4(SPTA1):c.5285T>G (p.Leu1762Arg)
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NM_003126.4(SPTA1):c.5287G>A (p.Val1763Met)
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NM_003126.4(SPTA1):c.5297_5302dup (p.Pro1767_Ala1768insGluPro)
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NM_003126.4(SPTA1):c.5310G>C (p.Gln1770His)
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NM_003126.4(SPTA1):c.534G>A (p.Glu178=)
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NM_003126.4(SPTA1):c.5351C>T (p.Ala1784Val)
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NM_003126.4(SPTA1):c.5389T>C (p.Phe1797Leu)
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NM_003126.4(SPTA1):c.5531G>C (p.Arg1844Pro)
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NM_003126.4(SPTA1):c.5639C>T (p.Ala1880Val)
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NM_003126.4(SPTA1):c.5801A>T (p.Asn1934Ile)
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NM_003126.4(SPTA1):c.5803T>G (p.Trp1935Gly)
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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.5911-17_5911-8del
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rs554241455
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NM_003126.4(SPTA1):c.5965A>G (p.Thr1989Ala)
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NM_003126.4(SPTA1):c.5989T>C (p.Ser1997Pro)
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NM_003126.4(SPTA1):c.6004C>A (p.Gln2002Lys)
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NM_003126.4(SPTA1):c.6025C>T (p.Arg2009Cys)
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NM_003126.4(SPTA1):c.6047G>A (p.Arg2016His)
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rs199993378
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NM_003126.4(SPTA1):c.6047G>T (p.Arg2016Leu)
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rs199993378
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NM_003126.4(SPTA1):c.6107T>G (p.Leu2036Arg)
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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.6228T>A (p.Asn2076Lys)
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NM_003126.4(SPTA1):c.6236G>A (p.Arg2079Gln)
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NM_003126.4(SPTA1):c.6250G>C (p.Asp2084His)
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NM_003126.4(SPTA1):c.6272C>T (p.Ser2091Phe)
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NM_003126.4(SPTA1):c.6341T>A (p.Val2114Glu)
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NM_003126.4(SPTA1):c.634G>A (p.Gly212Arg)
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NM_003126.4(SPTA1):c.6353C>T (p.Pro2118Leu)
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NM_003126.4(SPTA1):c.6407A>C (p.Asp2136Ala)
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NM_003126.4(SPTA1):c.6417+5C>T
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NM_003126.4(SPTA1):c.6418-23T>C
|
rs2101758142
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NM_003126.4(SPTA1):c.6421C>A (p.Arg2141=)
|
rs41273519
|
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NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp)
|
rs41273519
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NM_003126.4(SPTA1):c.6422G>A (p.Arg2141Gln)
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NM_003126.4(SPTA1):c.6452G>T (p.Arg2151Ile)
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NM_003126.4(SPTA1):c.6533C>T (p.Ala2178Val)
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NM_003126.4(SPTA1):c.6549-13G>A
|
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NM_003126.4(SPTA1):c.6557T>C (p.Leu2186Pro)
|
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NM_003126.4(SPTA1):c.6600+4del
|
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NM_003126.4(SPTA1):c.6600+5G>A
|
rs1462060431
|
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NM_003126.4(SPTA1):c.6600+5G>C
|
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NM_003126.4(SPTA1):c.6689A>G (p.Asp2230Gly)
|
rs369323191
|
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NM_003126.4(SPTA1):c.6710G>A (p.Gly2237Glu)
|
|
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NM_003126.4(SPTA1):c.6714G>T (p.Leu2238Phe)
|
rs1649486162
|
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NM_003126.4(SPTA1):c.6752G>A (p.Arg2251Gln)
|
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NM_003126.4(SPTA1):c.676G>A (p.Glu226Lys)
|
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NM_003126.4(SPTA1):c.678+7T>C
|
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NM_003126.4(SPTA1):c.6842+5del
|
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NM_003126.4(SPTA1):c.6860T>C (p.Leu2287Ser)
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NM_003126.4(SPTA1):c.6869G>A (p.Arg2290His)
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NM_003126.4(SPTA1):c.6974C>T (p.Ala2325Val)
|
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NM_003126.4(SPTA1):c.7016A>G (p.Tyr2339Cys)
|
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NM_003126.4(SPTA1):c.7071A>G (p.Ile2357Met)
|
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NM_003126.4(SPTA1):c.7072G>A (p.Glu2358Lys)
|
rs1557917325
|
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NM_003126.4(SPTA1):c.7091T>C (p.Leu2364Pro)
|
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NM_003126.4(SPTA1):c.7094_7095delinsAG (p.Ala2365Glu)
|
rs2101744936
|
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NM_003126.4(SPTA1):c.7094_7095inv (p.Ala2365Val)
|
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NM_003126.4(SPTA1):c.7119AGA[1] (p.Glu2374del)
|
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NM_003126.4(SPTA1):c.725T>C (p.Val242Ala)
|
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NM_003126.4(SPTA1):c.757G>C (p.Ala253Pro)
|
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NM_003126.4(SPTA1):c.764A>G (p.Gln255Arg)
|
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NM_003126.4(SPTA1):c.790G>C (p.Ala264Pro)
|
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NM_003126.4(SPTA1):c.853C>A (p.Pro285Thr)
|
rs150007668
|
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NM_003126.4(SPTA1):c.853C>G (p.Pro285Ala)
|
rs150007668
|
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NM_003126.4(SPTA1):c.880A>G (p.Lys294Glu)
|
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|
NM_003126.4(SPTA1):c.883G>A (p.Asp295Asn)
|
rs1654495744
|
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NM_003126.4(SPTA1):c.92T>C (p.Val31Ala)
|
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NM_003126.4(SPTA1):c.954C>A (p.Asp318Glu)
|
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NM_003126.4(SPTA1):c.957G>A (p.Lys319=)
|
rs752690778
|
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