ClinVar Miner

List of variants in gene SPTA1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 710
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HGVS dbSNP gnomAD frequency
NM_003126.4(SPTA1):c.6548+45A>C rs857717 0.99952
NM_003126.4(SPTA1):c.5189+35A>C rs2518492 0.99935
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.264+276T>C rs2779115 0.97178
NM_003126.4(SPTA1):c.25-281T>A rs443386 0.97176
NM_003126.4(SPTA1):c.25-178A>T rs366221 0.97175
NM_003126.4(SPTA1):c.25-301G>A rs431295 0.97175
NM_003126.4(SPTA1):c.24+276T>G rs368029 0.97174
NM_003126.4(SPTA1):c.264+112G>A rs385096 0.97174
NM_003126.4(SPTA1):c.264+239C>T rs439265 0.97169
NM_003126.4(SPTA1):c.264+240A>G rs438812 0.97168
NM_003126.4(SPTA1):c.24+3A>G rs2564858 0.97164
NC_000001.11:g.158686863A>T rs452233 0.97154
NM_003126.4(SPTA1):c.957+168T>C rs325997 0.95774
NM_003126.4(SPTA1):c.1599+294C>A rs966652 0.95772
NM_003126.4(SPTA1):c.813-7A>T rs325995 0.95672
NM_003126.4(SPTA1):c.942T>A (p.Ala314=) rs325996 0.95473
NC_000001.11:g.158686851C>A rs12096997 0.93553
NM_003126.4(SPTA1):c.958-215G>A rs90078 0.92849
NM_003126.4(SPTA1):c.812+183G>T rs325994 0.91816
NM_003126.4(SPTA1):c.2220+254T>C rs857680 0.65093
NM_003126.4(SPTA1):c.4702T>C (p.Cys1568Arg) rs863931 0.60775
NM_003126.4(SPTA1):c.3714+76G>A rs857677 0.56438
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.264+46T>C rs857937 0.50357
NM_003126.4(SPTA1):c.813-45A>G rs703122 0.49749
NM_003126.4(SPTA1):c.915T>C (p.Ser305=) rs703121 0.49738
NM_003126.4(SPTA1):c.391-333G>A rs857933 0.49720
NM_003126.4(SPTA1):c.1489-198A>G rs857932 0.45984
NM_003126.4(SPTA1):c.1600-25T>C rs2298801 0.42214
NM_003126.4(SPTA1):c.2874G>A (p.Leu958=) rs857691 0.40606
NC_000001.11:g.158686968A>G rs443000 0.35355
NM_003126.4(SPTA1):c.532-324G>A rs413190 0.34728
NM_003126.4(SPTA1):c.6530+96G>C rs7553252 0.34638
NM_003126.4(SPTA1):c.5565+190C>T rs11811522 0.34633
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.5566-229A>G rs3737516 0.34018
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.4738-305_4738-304insA rs112116104 0.28018
NM_003126.4(SPTA1):c.5189+214A>G rs11799335 0.28010
NM_003126.4(SPTA1):c.6531-300C>T rs73016289 0.27890
NM_003126.4(SPTA1):c.6531-317G>T rs66516624 0.27003
NM_003126.4(SPTA1):c.5910+112A>G rs56954229 0.26993
NM_003126.4(SPTA1):c.4981-147C>T rs10908687 0.26982
NM_003126.4(SPTA1):c.5910+94G>T rs11265038 0.26981
NM_003126.4(SPTA1):c.3570-37T>A rs11265044 0.26469
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.5833+105T>C rs12088990 0.25254
NM_003126.4(SPTA1):c.6789-314C>T rs72698798 0.24740
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.264+311T>A rs3835726 0.19347
NM_003126.4(SPTA1):c.1834-263G>T rs879236 0.18451
NM_003126.4(SPTA1):c.5664+106T>C rs12044097 0.14395
NM_003126.4(SPTA1):c.2899-241A>G rs2276401 0.10038
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.265-223T>C rs857935 0.06623
NM_003126.4(SPTA1):c.4737+89T>A rs7514536 0.05587
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.3997-42A>G rs16840429 0.05552
NM_003126.4(SPTA1):c.6548+57G>A rs79660690 0.05551
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.5432+210C>T rs79423995 0.05535
NM_003126.4(SPTA1):c.2465-58G>A rs12039268 0.04112
NC_000001.11:g.158686852C>A rs12096998 0.03721
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.5665-24T>C rs41273521 0.01019
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.775G>A (p.Ala259Thr) rs187932146 0.00116
NM_003126.4(SPTA1):c.192T>A (p.Asp64Glu) rs200860772 0.00114
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.3108C>T (p.His1036=) rs34886778 0.00089
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.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.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.5778C>T (p.Asp1926=) rs146520285 0.00036
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.3477+15C>T rs369904982 0.00031
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.6378G>T (p.Val2126=) rs141823269 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.3940T>C (p.Ser1314Pro) rs200308788 0.00010
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.4875+13G>A rs776588829 0.00009
NM_003126.4(SPTA1):c.4981-25C>T rs746819129 0.00009
NM_003126.4(SPTA1):c.6889C>T (p.Arg2297Trp) rs375016862 0.00008
NM_003126.4(SPTA1):c.243T>C (p.Tyr81=) rs369988146 0.00007
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.4708G>A (p.Ala1570Thr) rs778626016 0.00006
NM_003126.4(SPTA1):c.5049G>T (p.Gln1683His) rs746762359 0.00006
NM_003126.4(SPTA1):c.5311-4T>A rs544472935 0.00006
NM_003126.4(SPTA1):c.54G>A (p.Leu18=) rs199690643 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.779T>C (p.Leu260Pro) rs121918634 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.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.3472C>T (p.Arg1158Trp) rs374770895 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.5358G>A (p.Gly1786=) rs368542665 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.3166C>T (p.Arg1056Cys) rs762361277 0.00003
NM_003126.4(SPTA1):c.4419G>A (p.Thr1473=) rs771135166 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.5566-10A>G rs140863916 0.00002
NM_003126.4(SPTA1):c.5834-13T>C rs370452867 0.00002
NM_003126.4(SPTA1):c.594G>A (p.Lys198=) rs756937438 0.00002
NM_003126.4(SPTA1):c.957+8G>A rs763322885 0.00002
NM_003126.4(SPTA1):c.1086A>G (p.Arg362=) rs1374378636 0.00001
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.178C>T (p.Arg60Ter) rs373695294 0.00001
NM_003126.4(SPTA1):c.2245C>A (p.Leu749Met) rs777149969 0.00001
NM_003126.4(SPTA1):c.2320C>T (p.Arg774Ter) rs751026146 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.2914C>A (p.Pro972Thr) rs148064417 0.00001
NM_003126.4(SPTA1):c.2954T>C (p.Leu985Ser) rs774722673 0.00001
NM_003126.4(SPTA1):c.3057T>C (p.Ala1019=) rs1571459542 0.00001
NM_003126.4(SPTA1):c.32A>G (p.Glu11Gly) rs769982359 0.00001
NM_003126.4(SPTA1):c.3314A>C (p.Asn1105Thr) rs200193956 0.00001
NM_003126.4(SPTA1):c.3570-11T>C rs551180246 0.00001
NM_003126.4(SPTA1):c.4140G>C (p.Leu1380Phe) rs1444515159 0.00001
NM_003126.4(SPTA1):c.4180del (p.Cys1394fs) rs779174182 0.00001
NM_003126.4(SPTA1):c.4339-2A>C rs368931075 0.00001
NM_003126.4(SPTA1):c.4637A>G (p.His1546Arg) rs568501725 0.00001
NM_003126.4(SPTA1):c.4975C>T (p.Arg1659Ter) rs1394141324 0.00001
NM_003126.4(SPTA1):c.5040C>T (p.Asn1680=) rs749363866 0.00001
NM_003126.4(SPTA1):c.5093T>C (p.Val1698Ala) rs182430449 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.5620C>T (p.Arg1874Ter) rs749880846 0.00001
NM_003126.4(SPTA1):c.5786C>G (p.Ala1929Gly) rs199547344 0.00001
NM_003126.4(SPTA1):c.6233T>A (p.Ile2078Asn) rs757836340 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
NM_003126.4(SPTA1):c.82C>T (p.Arg28Cys) rs121918642 0.00001
NC_000001.10:g.(?_158641113)_(158646105_?)del
NM_003126.4(SPTA1):c.-126dup rs34783066
NM_003126.4(SPTA1):c.-58CT[6]
NM_003126.4(SPTA1):c.101G>C (p.Arg34Pro) rs567686069
NM_003126.4(SPTA1):c.1038A>T (p.Glu346Asp)
NM_003126.4(SPTA1):c.1053C>G (p.Ser351Arg) rs766046816
NM_003126.4(SPTA1):c.1055G>A (p.Trp352Ter)
NM_003126.4(SPTA1):c.1069G>T (p.Ala357Ser)
NM_003126.4(SPTA1):c.1085G>A (p.Arg362Lys) rs201026759
NM_003126.4(SPTA1):c.1088A>G (p.Tyr363Cys)
NM_003126.4(SPTA1):c.1112+1G>T
NM_003126.4(SPTA1):c.1113-5C>T
NM_003126.4(SPTA1):c.1113-9T>C
NM_003126.4(SPTA1):c.1115A>G (p.Tyr372Cys)
NM_003126.4(SPTA1):c.1120C>T (p.Arg374Ter)
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+16T>G
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.1273C>T (p.Arg425Ter)
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.134G>C (p.Arg45Thr)
NM_003126.4(SPTA1):c.1350+1G>C
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.1446C>T (p.Tyr482=)
NM_003126.4(SPTA1):c.1460_1463dup (p.Asp489fs) rs2101916656
NM_003126.4(SPTA1):c.1463T>C (p.Val488Ala) rs754575328
NM_003126.4(SPTA1):c.1479T>C (p.Ser493=)
NM_003126.4(SPTA1):c.1488+5C>T
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.1514delinsTA (p.Gly505fs)
NM_003126.4(SPTA1):c.1552C>T (p.His518Tyr)
NM_003126.4(SPTA1):c.1598T>C (p.Ile533Thr)
NM_003126.4(SPTA1):c.1641T>C (p.His547=)
NM_003126.4(SPTA1):c.165dup (p.Gln56fs) rs2101958311
NM_003126.4(SPTA1):c.1670G>A (p.Arg557His)
NM_003126.4(SPTA1):c.1675G>A (p.Gly559Arg)
NM_003126.4(SPTA1):c.1687C>T (p.Arg563Trp)
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.173del (p.Phe58fs)
NM_003126.4(SPTA1):c.1747C>T (p.Leu583Phe)
NM_003126.4(SPTA1):c.1773A>G (p.Ser591=)
NM_003126.4(SPTA1):c.1778del (p.Asp593fs) rs2101908951
NM_003126.4(SPTA1):c.1790G>A (p.Trp597Ter)
NM_003126.4(SPTA1):c.179G>C (p.Arg60Pro)
NM_003126.4(SPTA1):c.1833+1G>A rs1035389616
NM_003126.4(SPTA1):c.1834-14del rs3039789
NM_003126.4(SPTA1):c.1834-15_1834-14del rs3039789
NM_003126.4(SPTA1):c.1834-16_1834-14del rs3039789
NM_003126.4(SPTA1):c.1867C>T (p.Gln623Ter)
NM_003126.4(SPTA1):c.1900A>G (p.Lys634Glu)
NM_003126.4(SPTA1):c.1902G>A (p.Lys634=)
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.1921C>T (p.Gln641Ter)
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.2020G>C (p.Glu674Gln)
NM_003126.4(SPTA1):c.202T>A (p.Trp68Arg) rs2101958016
NM_003126.4(SPTA1):c.2036A>C (p.Lys679Thr)
NM_003126.4(SPTA1):c.2038+1G>A rs199883479
NM_003126.4(SPTA1):c.2038+8G>A
NM_003126.4(SPTA1):c.2038G>A (p.Gly680Arg) rs2101904247
NM_003126.4(SPTA1):c.2053G>T (p.Glu685Ter)
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.2160C>T (p.Ala720=) rs199815523
NM_003126.4(SPTA1):c.2161G>A (p.Glu721Lys)
NM_003126.4(SPTA1):c.216A>G (p.Lys72=) rs1655075582
NM_003126.4(SPTA1):c.2173C>T (p.Arg725Ter) rs2101900643
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.2296G>A (p.Ala766Thr)
NM_003126.4(SPTA1):c.2335_2351delinsGCTCTCA (p.Lys779fs)
NM_003126.4(SPTA1):c.2351C>G (p.Thr784Ser)
NM_003126.4(SPTA1):c.2353C>T (p.Arg785Ter) rs2022057
NM_003126.4(SPTA1):c.2386C>T (p.Gln796Ter) rs2101892539
NM_003126.4(SPTA1):c.24+132_24+137del rs66555443
NM_003126.4(SPTA1):c.24+1G>A rs772644757
NM_003126.4(SPTA1):c.2443T>A (p.Ser815Thr)
NM_003126.4(SPTA1):c.2464+1G>A rs774632615
NM_003126.4(SPTA1):c.2464G>T (p.Gly822Ter)
NM_003126.4(SPTA1):c.25-25G>T rs2564859
NM_003126.4(SPTA1):c.25-321T>G rs857938
NM_003126.4(SPTA1):c.25-3C>G
NM_003126.4(SPTA1):c.2501G>A (p.Arg834Lys)
NM_003126.4(SPTA1):c.2506A>T (p.Arg836Ter)
NM_003126.4(SPTA1):c.2525T>A (p.Ile842Asn)
NM_003126.4(SPTA1):c.2584G>T (p.Glu862Ter)
NM_003126.4(SPTA1):c.2587+16A>G
NM_003126.4(SPTA1):c.2588-15A>G
NM_003126.4(SPTA1):c.2588-7T>A
NM_003126.4(SPTA1):c.25G>C (p.Val9Leu) rs111321033
NM_003126.4(SPTA1):c.25G>T (p.Val9Phe) rs111321033
NM_003126.4(SPTA1):c.262C>T (p.Gln88Ter) rs2101957676
NM_003126.4(SPTA1):c.264+12C>A
NM_003126.4(SPTA1):c.2659C>T (p.Arg887Ter)
NM_003126.4(SPTA1):c.2660G>A (p.Arg887Gln)
NM_003126.4(SPTA1):c.2665G>T (p.Ala889Ser)
NM_003126.4(SPTA1):c.2699A>G (p.Gln900Arg)
NM_003126.4(SPTA1):c.2768A>G (p.Asp923Gly)
NM_003126.4(SPTA1):c.2805+4A>T
NM_003126.4(SPTA1):c.2806-3_2806-1del rs1652849551
NM_003126.4(SPTA1):c.2812C>G (p.Leu938Val)
NM_003126.4(SPTA1):c.2818A>T (p.Lys940Ter) rs1652848700
NM_003126.4(SPTA1):c.2831T>C (p.Phe944Ser)
NM_003126.4(SPTA1):c.2842C>T (p.Leu948Phe)
NM_003126.4(SPTA1):c.2874_2875delinsAT (p.Arg959Trp)
NM_003126.4(SPTA1):c.2898+12T>A
NM_003126.4(SPTA1):c.2898+2T>C
NM_003126.4(SPTA1):c.2899-14C>T
NM_003126.4(SPTA1):c.2905C>G (p.Gln969Glu)
NM_003126.4(SPTA1):c.2920del (p.Glu974fs)
NM_003126.4(SPTA1):c.2927T>C (p.Val976Ala)
NM_003126.4(SPTA1):c.2938C>T (p.Gln980Ter) rs539524312
NM_003126.4(SPTA1):c.2954del (p.Leu985fs)
NM_003126.4(SPTA1):c.2965_2966del (p.Gln989fs)
NM_003126.4(SPTA1):c.2980C>T (p.Arg994Ter)
NM_003126.4(SPTA1):c.3026_3027delinsGA (p.Ser1009Ter) rs2101868872
NM_003126.4(SPTA1):c.3037-10C>T
NM_003126.4(SPTA1):c.3037-2A>G
NM_003126.4(SPTA1):c.3123G>A (p.Met1041Ile) rs1308011828
NM_003126.4(SPTA1):c.3134G>A (p.Arg1045Gln)
NM_003126.4(SPTA1):c.3139C>T (p.Arg1047Ter) rs762088983
NM_003126.4(SPTA1):c.3190T>C (p.Tyr1064His)
NM_003126.4(SPTA1):c.3193C>T (p.Arg1065Cys)
NM_003126.4(SPTA1):c.3204G>A (p.Leu1068=)
NM_003126.4(SPTA1):c.3257del (p.Leu1086fs) rs1652531375
NM_003126.4(SPTA1):c.3317C>G (p.Thr1106Ser)
NM_003126.4(SPTA1):c.3352A>G (p.Lys1118Glu)
NM_003126.4(SPTA1):c.3369C>G (p.Phe1123Leu)
NM_003126.4(SPTA1):c.3374del (p.Lys1125fs)
NM_003126.4(SPTA1):c.3375+16C>T
NM_003126.4(SPTA1):c.3376-1G>A
NM_003126.4(SPTA1):c.3377A>G (p.Asp1126Gly)
NM_003126.4(SPTA1):c.3437T>C (p.Phe1146Ser)
NM_003126.4(SPTA1):c.3473G>A (p.Arg1158Gln)
NM_003126.4(SPTA1):c.3485A>C (p.Asn1162Thr)
NM_003126.4(SPTA1):c.3494G>A (p.Trp1165Ter)
NM_003126.4(SPTA1):c.3514G>T (p.Ala1172Ser)
NM_003126.4(SPTA1):c.3529C>A (p.Gln1177Lys)
NM_003126.4(SPTA1):c.3584C>T (p.Thr1195Met)
NM_003126.4(SPTA1):c.3622G>A (p.Ala1208Thr)
NM_003126.4(SPTA1):c.3662T>C (p.Leu1221Pro)
NM_003126.4(SPTA1):c.3663T>G (p.Leu1221=)
NM_003126.4(SPTA1):c.3664C>T (p.Gln1222Ter)
NM_003126.4(SPTA1):c.3667C>T (p.Arg1223Ter)
NM_003126.4(SPTA1):c.3674A>G (p.His1225Arg)
NM_003126.4(SPTA1):c.3699A>G (p.Val1233=)
NM_003126.4(SPTA1):c.3700C>T (p.Pro1234Ser)
NM_003126.4(SPTA1):c.370T>A (p.Ser124Thr)
NM_003126.4(SPTA1):c.3710A>C (p.Asp1237Ala)
NM_003126.4(SPTA1):c.3720C>T (p.Thr1240=)
NM_003126.4(SPTA1):c.3730G>A (p.Glu1244Lys)
NM_003126.4(SPTA1):c.3751G>A (p.Glu1251Lys)
NM_003126.4(SPTA1):c.376C>T (p.His126Tyr)
NM_003126.4(SPTA1):c.3787C>G (p.Gln1263Glu) rs1553229990
NM_003126.4(SPTA1):c.379G>A (p.Glu127Lys)
NM_003126.4(SPTA1):c.3800T>G (p.Leu1267Arg) rs1469105508
NM_003126.4(SPTA1):c.3803A>G (p.Asn1268Ser)
NM_003126.4(SPTA1):c.3823C>T (p.Gln1275Ter) rs1652094925
NM_003126.4(SPTA1):c.3828G>A (p.Gly1276=)
NM_003126.4(SPTA1):c.3841C>G (p.Arg1281Gly)
NM_003126.4(SPTA1):c.3842G>A (p.Arg1281His)
NM_003126.4(SPTA1):c.3880T>C (p.Phe1294Leu)
NM_003126.4(SPTA1):c.3896G>A (p.Arg1299Lys)
NM_003126.4(SPTA1):c.3897-14del
NM_003126.4(SPTA1):c.390+1G>A rs2101951549
NM_003126.4(SPTA1):c.390+4T>C
NM_003126.4(SPTA1):c.390+9A>G
NM_003126.4(SPTA1):c.3909C>A (p.Asn1303Lys) rs1651939630
NM_003126.4(SPTA1):c.3929G>T (p.Gly1310Val)
NM_003126.4(SPTA1):c.3936A>G (p.Val1312=)
NM_003126.4(SPTA1):c.3952G>C (p.Ala1318Pro) rs2101838875
NM_003126.4(SPTA1):c.3997-5C>T
NM_003126.4(SPTA1):c.401A>G (p.Glu134Gly)
NM_003126.4(SPTA1):c.4025C>T (p.Ala1342Val)
NM_003126.4(SPTA1):c.4058C>T (p.Ala1353Val)
NM_003126.4(SPTA1):c.4076_4077del (p.Gly1359fs)
NM_003126.4(SPTA1):c.409C>A (p.Arg137Ser)
NM_003126.4(SPTA1):c.409C>T (p.Arg137Cys)
NM_003126.4(SPTA1):c.4106dup (p.Leu1370fs)
NM_003126.4(SPTA1):c.410G>A (p.Arg137His) rs200716254
NM_003126.4(SPTA1):c.4174G>C (p.Asp1392His)
NM_003126.4(SPTA1):c.4182C>T (p.Cys1394=) rs2101837185
NM_003126.4(SPTA1):c.4194+1del rs2101837157
NM_003126.4(SPTA1):c.4201C>T (p.Gln1401Ter) rs866240607
NM_003126.4(SPTA1):c.4206G>T (p.Gly1402=)
NM_003126.4(SPTA1):c.4232T>G (p.Met1411Arg)
NM_003126.4(SPTA1):c.4240C>G (p.Arg1414Gly) rs201399968
NM_003126.4(SPTA1):c.4295del (p.Ala1431_Leu1432insTer)
NM_003126.4(SPTA1):c.4298T>C (p.Met1433Thr)
NM_003126.4(SPTA1):c.4306C>T (p.Arg1436Trp)
NM_003126.4(SPTA1):c.4309G>T (p.Asp1437Tyr)
NM_003126.4(SPTA1):c.4311C>T (p.Asp1437=)
NM_003126.4(SPTA1):c.4338+19G>C
NM_003126.4(SPTA1):c.4339-188C>G rs979512757
NM_003126.4(SPTA1):c.4339-1G>T
NM_003126.4(SPTA1):c.4339-99C>T rs200830867
NM_003126.4(SPTA1):c.4377C>T (p.Ser1459=)
NM_003126.4(SPTA1):c.438G>C (p.Leu146=) rs1280197961
NM_003126.4(SPTA1):c.4398T>G (p.Tyr1466Ter)
NM_003126.4(SPTA1):c.4408G>A (p.Glu1470Lys)
NM_003126.4(SPTA1):c.4408G>T (p.Glu1470Ter)
NM_003126.4(SPTA1):c.4419_4420delinsTT (p.Arg1474Trp)
NM_003126.4(SPTA1):c.4442_4443insTCG (p.Asp1480_Arg1481insSer)
NM_003126.4(SPTA1):c.4443-9G>A
NM_003126.4(SPTA1):c.4448A>G (p.Lys1483Arg)
NM_003126.4(SPTA1):c.4452T>C (p.Ala1484=)
NM_003126.4(SPTA1):c.4480A>G (p.Thr1494Ala)
NM_003126.4(SPTA1):c.4484A>C (p.Lys1495Thr) rs2101830005
NM_003126.4(SPTA1):c.4517A>G (p.Tyr1506Cys)
NM_003126.4(SPTA1):c.4519C>T (p.Arg1507Ter) rs1651716612
NM_003126.4(SPTA1):c.4520G>A (p.Arg1507Gln)
NM_003126.4(SPTA1):c.4579_4586del (p.Ser1527fs) rs2101829513
NM_003126.4(SPTA1):c.459_460insATGCTGCGGGCCCTGCTGTTAGAGCTGACCCTGGAGAAGGGTGACCAG (p.Gln153_Leu154insMetLeuArgAlaLeuLeuLeuGluLeuThrLeuGluLysGlyAspGln) rs2101946108
NM_003126.4(SPTA1):c.4603C>T (p.Gln1535Ter)
NM_003126.4(SPTA1):c.4605+4del rs756036039
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup) rs757679761
NM_003126.4(SPTA1):c.4614C>G (p.Tyr1538Ter)
NM_003126.4(SPTA1):c.461TGC[3] (p.Leu155dup) rs749754226
NM_003126.4(SPTA1):c.4632dup (p.Ala1545fs) rs754501564
NM_003126.4(SPTA1):c.463C>T (p.Leu155=)
NM_003126.4(SPTA1):c.4651C>T (p.Arg1551Ter)
NM_003126.4(SPTA1):c.466C>T (p.Arg156Trp)
NM_003126.4(SPTA1):c.4676T>C (p.Ile1559Thr)
NM_003126.4(SPTA1):c.468G>A (p.Arg156=)
NM_003126.4(SPTA1):c.4697T>C (p.Ile1566Thr)
NM_003126.4(SPTA1):c.4702_4703inv (p.Cys1568His)
NM_003126.4(SPTA1):c.4707C>T (p.Ser1569=)
NM_003126.4(SPTA1):c.4730C>G (p.Ala1577Gly)
NM_003126.4(SPTA1):c.4733T>A (p.Met1578Lys)
NM_003126.4(SPTA1):c.4757A>C (p.Lys1586Thr)
NM_003126.4(SPTA1):c.4760A>G (p.Glu1587Gly)
NM_003126.4(SPTA1):c.4767G>A (p.Trp1589Ter) rs2101819646
NM_003126.4(SPTA1):c.4768G>C (p.Asp1590His)
NM_003126.4(SPTA1):c.4789A>G (p.Asn1597Asp)
NM_003126.4(SPTA1):c.481C>T (p.Gln161Ter) rs1654812809
NM_003126.4(SPTA1):c.4833G>A (p.Arg1611=) rs145288947
NM_003126.4(SPTA1):c.4833G>T (p.Arg1611Ser)
NM_003126.4(SPTA1):c.4871C>G (p.Ser1624Ter)
NM_003126.4(SPTA1):c.4875+12C>T rs139797540
NM_003126.4(SPTA1):c.4876-19C>T
NM_003126.4(SPTA1):c.4877C>A (p.Ala1626Glu)
NM_003126.4(SPTA1):c.491_505del (p.Val164_Ala168del)
NM_003126.4(SPTA1):c.4924G>A (p.Ala1642Thr)
NM_003126.4(SPTA1):c.4980+301G>A rs16840423
NM_003126.4(SPTA1):c.4980+72G>C rs17635857
NM_003126.4(SPTA1):c.4981-12G>A
NM_003126.4(SPTA1):c.4984G>T (p.Ala1662Ser)
NM_003126.4(SPTA1):c.4995C>A (p.Asp1665Glu)
NM_003126.4(SPTA1):c.4del (p.Glu2fs)
NM_003126.4(SPTA1):c.5020C>T (p.Leu1674Phe)
NM_003126.4(SPTA1):c.5030G>A (p.Gly1677Glu) rs1651232252
NM_003126.4(SPTA1):c.5040C>A (p.Asn1680Lys)
NM_003126.4(SPTA1):c.5041G>A (p.Val1681Ile)
NM_003126.4(SPTA1):c.5102T>A (p.Leu1701Ter)
NM_003126.4(SPTA1):c.5171A>G (p.Asp1724Gly)
NM_003126.4(SPTA1):c.5180C>T (p.Ser1727Phe)
NM_003126.4(SPTA1):c.5189+18A>G
NM_003126.4(SPTA1):c.5190-20G>T
NM_003126.4(SPTA1):c.5190-26C>G rs777919453
NM_003126.4(SPTA1):c.5212_5213dup (p.Gln1739fs)
NM_003126.4(SPTA1):c.5221T>A (p.Tyr1741Asn)
NM_003126.4(SPTA1):c.5226G>A (p.Gly1742=)
NM_003126.4(SPTA1):c.5238G>C (p.Gln1746His)
NM_003126.4(SPTA1):c.5238G>T (p.Gln1746His)
NM_003126.4(SPTA1):c.5245C>T (p.Gln1749Ter)
NM_003126.4(SPTA1):c.5249del (p.Asn1750fs)
NM_003126.4(SPTA1):c.5270G>T (p.Arg1757Leu)
NM_003126.4(SPTA1):c.5281G>T (p.Glu1761Ter)
NM_003126.4(SPTA1):c.5285T>G (p.Leu1762Arg)
NM_003126.4(SPTA1):c.5287G>A (p.Val1763Met)
NM_003126.4(SPTA1):c.5297_5302dup (p.Pro1767_Ala1768insGluPro)
NM_003126.4(SPTA1):c.531+1G>A
NM_003126.4(SPTA1):c.5310G>C (p.Gln1770His)
NM_003126.4(SPTA1):c.5336T>C (p.Leu1779Pro)
NM_003126.4(SPTA1):c.534G>A (p.Glu178=)
NM_003126.4(SPTA1):c.5351C>T (p.Ala1784Val)
NM_003126.4(SPTA1):c.5386C>T (p.Gln1796Ter) rs763899069
NM_003126.4(SPTA1):c.5389T>C (p.Phe1797Leu)
NM_003126.4(SPTA1):c.5431C>T (p.Arg1811Ter)
NM_003126.4(SPTA1):c.5433-19G>C
NM_003126.4(SPTA1):c.5433-8del
NM_003126.4(SPTA1):c.5530C>T (p.Arg1844Ter)
NM_003126.4(SPTA1):c.5531G>C (p.Arg1844Pro)
NM_003126.4(SPTA1):c.5550A>G (p.Thr1850=)
NM_003126.4(SPTA1):c.5566-2A>T
NM_003126.4(SPTA1):c.5639C>T (p.Ala1880Val)
NM_003126.4(SPTA1):c.5664+119C>G rs41523545
NM_003126.4(SPTA1):c.5665-17C>A
NM_003126.4(SPTA1):c.5665-2A>G
NM_003126.4(SPTA1):c.5801A>T (p.Asn1934Ile)
NM_003126.4(SPTA1):c.5803T>G (p.Trp1935Gly)
NM_003126.4(SPTA1):c.5833+1G>A
NM_003126.4(SPTA1):c.5834-18A>G
NM_003126.4(SPTA1):c.5834C>T (p.Ala1945Val)
NM_003126.4(SPTA1):c.5911-17_5911-8del rs554241455
NM_003126.4(SPTA1):c.5931G>T (p.Leu1977=)
NM_003126.4(SPTA1):c.5944C>T (p.Gln1982Ter)
NM_003126.4(SPTA1):c.5950A>T (p.Arg1984Ter) rs886041244
NM_003126.4(SPTA1):c.5965A>G (p.Thr1989Ala)
NM_003126.4(SPTA1):c.5989T>C (p.Ser1997Pro)
NM_003126.4(SPTA1):c.5997A>G (p.Gln1999=)
NM_003126.4(SPTA1):c.6004C>A (p.Gln2002Lys)
NM_003126.4(SPTA1):c.6006G>T (p.Gln2002His)
NM_003126.4(SPTA1):c.6025C>T (p.Arg2009Cys)
NM_003126.4(SPTA1):c.6047G>A (p.Arg2016His) rs199993378
NM_003126.4(SPTA1):c.6047G>T (p.Arg2016Leu) rs199993378
NM_003126.4(SPTA1):c.6061C>T (p.Leu2021=)
NM_003126.4(SPTA1):c.60del (p.Ala21fs) rs1655094479
NM_003126.4(SPTA1):c.6107T>G (p.Leu2036Arg)
NM_003126.4(SPTA1):c.6120+10A>C
NM_003126.4(SPTA1):c.6120+11del rs750152009
NM_003126.4(SPTA1):c.6120+257A>G rs1619
NM_003126.4(SPTA1):c.6120G>A (p.Lys2040=) rs1650012277
NM_003126.4(SPTA1):c.6121-11del rs548425429
NM_003126.4(SPTA1):c.6154del (p.Ala2052fs)
NM_003126.4(SPTA1):c.6228T>A (p.Asn2076Lys)
NM_003126.4(SPTA1):c.6236G>A (p.Arg2079Gln)
NM_003126.4(SPTA1):c.6236G>T (p.Arg2079Leu) rs754206036
NM_003126.4(SPTA1):c.6236_6264del (p.Arg2079fs) rs2101760572
NM_003126.4(SPTA1):c.6250G>C (p.Asp2084His)
NM_003126.4(SPTA1):c.6258G>A (p.Glu2086=)
NM_003126.4(SPTA1):c.6272C>T (p.Ser2091Phe)
NM_003126.4(SPTA1):c.6274C>T (p.Leu2092=)
NM_003126.4(SPTA1):c.6319C>T (p.Gln2107Ter)
NM_003126.4(SPTA1):c.6335T>G (p.Leu2112Ter)
NM_003126.4(SPTA1):c.6341T>A (p.Val2114Glu)
NM_003126.4(SPTA1):c.634G>A (p.Gly212Arg)
NM_003126.4(SPTA1):c.6353C>T (p.Pro2118Leu)
NM_003126.4(SPTA1):c.6407A>C (p.Asp2136Ala)
NM_003126.4(SPTA1):c.6414del (p.Ile2138fs) rs767854151
NM_003126.4(SPTA1):c.6417+14C>T
NM_003126.4(SPTA1):c.6417+5C>T
NM_003126.4(SPTA1):c.6418-23T>C rs2101758142
NM_003126.4(SPTA1):c.6418-312G>A rs10908686
NM_003126.4(SPTA1):c.6421C>A (p.Arg2141=) rs41273519
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp) rs41273519
NM_003126.4(SPTA1):c.6422G>A (p.Arg2141Gln)
NM_003126.4(SPTA1):c.6452G>T (p.Arg2151Ile)
NM_003126.4(SPTA1):c.6533C>T (p.Ala2178Val)
NM_003126.4(SPTA1):c.6548+19C>A
NM_003126.4(SPTA1):c.6549-12G>A rs857716
NM_003126.4(SPTA1):c.6549-13G>A
NM_003126.4(SPTA1):c.6549-14C>T
NM_003126.4(SPTA1):c.6557T>C (p.Leu2186Pro)
NM_003126.4(SPTA1):c.6594A>G (p.Ala2198=) rs1649630994
NM_003126.4(SPTA1):c.6600+4del
NM_003126.4(SPTA1):c.6600+5G>A rs1462060431
NM_003126.4(SPTA1):c.6600+5G>C
NM_003126.4(SPTA1):c.660T>A (p.Tyr220Ter) rs2101942740
NM_003126.4(SPTA1):c.6632G>A (p.Arg2211His)
NM_003126.4(SPTA1):c.6689A>G (p.Asp2230Gly) rs369323191
NM_003126.4(SPTA1):c.6710G>A (p.Gly2237Glu)
NM_003126.4(SPTA1):c.6714G>T (p.Leu2238Phe) rs1649486162
NM_003126.4(SPTA1):c.6749T>A (p.Leu2250Ter)
NM_003126.4(SPTA1):c.6752G>A (p.Arg2251Gln)
NM_003126.4(SPTA1):c.676G>A (p.Glu226Lys)
NM_003126.4(SPTA1):c.678+7T>C
NM_003126.4(SPTA1):c.6788+1G>A
NM_003126.4(SPTA1):c.6789-19_6789-17dup rs5778083
NM_003126.4(SPTA1):c.6789-19_6789-18dup rs5778083
NM_003126.4(SPTA1):c.6789-19dup rs5778083
NM_003126.4(SPTA1):c.6789-20G>T
NM_003126.4(SPTA1):c.6789-8del rs5778083
NM_003126.4(SPTA1):c.679-166A>G rs325993
NM_003126.4(SPTA1):c.6813_6814del (p.Glu2271fs) rs1649424538
NM_003126.4(SPTA1):c.6842+5del
NM_003126.4(SPTA1):c.6860T>C (p.Leu2287Ser)
NM_003126.4(SPTA1):c.6869G>A (p.Arg2290His)
NM_003126.4(SPTA1):c.6871del (p.Arg2290_Leu2291insTer) rs1396249069
NM_003126.4(SPTA1):c.6940G>A (p.Glu2314Lys)
NM_003126.4(SPTA1):c.6974C>T (p.Ala2325Val)
NM_003126.4(SPTA1):c.7008G>A (p.Leu2336=)
NM_003126.4(SPTA1):c.7016A>G (p.Tyr2339Cys)
NM_003126.4(SPTA1):c.7071A>G (p.Ile2357Met)
NM_003126.4(SPTA1):c.7072G>A (p.Glu2358Lys) rs1557917325
NM_003126.4(SPTA1):c.7089C>T (p.Ala2363=)
NM_003126.4(SPTA1):c.7091T>C (p.Leu2364Pro)
NM_003126.4(SPTA1):c.7094_7095delinsAG (p.Ala2365Glu) rs2101744936
NM_003126.4(SPTA1):c.7094_7095inv (p.Ala2365Val)
NM_003126.4(SPTA1):c.7119AGA[1] (p.Glu2374del)
NM_003126.4(SPTA1):c.7132C>T (p.Gln2378Ter) rs1064795113
NM_003126.4(SPTA1):c.7134+250_7134+252dup rs34729637
NM_003126.4(SPTA1):c.7134+2T>G
NM_003126.4(SPTA1):c.725T>C (p.Val242Ala)
NM_003126.4(SPTA1):c.757G>C (p.Ala253Pro)
NM_003126.4(SPTA1):c.764A>G (p.Gln255Arg)
NM_003126.4(SPTA1):c.790G>C (p.Ala264Pro)
NM_003126.4(SPTA1):c.791C>A (p.Ala264Glu)
NM_003126.4(SPTA1):c.798dup (p.Gln267fs)
NM_003126.4(SPTA1):c.802C>T (p.Arg268Ter)
NM_003126.4(SPTA1):c.812+1G>A
NM_003126.4(SPTA1):c.82C>A (p.Arg28Ser) rs121918642
NM_003126.4(SPTA1):c.836G>A (p.Trp279Ter) rs1131691810
NM_003126.4(SPTA1):c.83G>A (p.Arg28His) rs121918641
NM_003126.4(SPTA1):c.83G>T (p.Arg28Leu) rs121918641
NM_003126.4(SPTA1):c.853C>A (p.Pro285Thr) rs150007668
NM_003126.4(SPTA1):c.853C>G (p.Pro285Ala) rs150007668
NM_003126.4(SPTA1):c.876T>C (p.Tyr292=)
NM_003126.4(SPTA1):c.880A>G (p.Lys294Glu)
NM_003126.4(SPTA1):c.883G>A (p.Asp295Asn) rs1654495744
NM_003126.4(SPTA1):c.92T>C (p.Val31Ala)
NM_003126.4(SPTA1):c.954C>A (p.Asp318Glu)
NM_003126.4(SPTA1):c.955A>T (p.Lys319Ter)
NM_003126.4(SPTA1):c.957+1G>A rs373407146
NM_003126.4(SPTA1):c.957G>A (p.Lys319=) rs752690778
NM_003126.4(SPTA1):c.958-1G>T
NM_003126.4(SPTA1):c.988C>T (p.Leu330=)

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