ClinVar Miner

List of variants in gene SPTA1 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 346
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HGVS dbSNP gnomAD frequency
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
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.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.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.2905C>G (p.Gln969Glu)
NM_003126.4(SPTA1):c.2927T>C (p.Val976Ala)
NM_003126.4(SPTA1):c.3123G>A (p.Met1041Ile) rs1308011828
NM_003126.4(SPTA1):c.3134G>A (p.Arg1045Gln)
NM_003126.4(SPTA1):c.3190T>C (p.Tyr1064His)
NM_003126.4(SPTA1):c.3193C>T (p.Arg1065Cys)
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.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.3514G>T (p.Ala1172Ser)
NM_003126.4(SPTA1):c.3529C>A (p.Gln1177Lys)
NM_003126.4(SPTA1):c.3622G>A (p.Ala1208Thr)
NM_003126.4(SPTA1):c.3662T>C (p.Leu1221Pro)
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.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.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.390+4T>C
NM_003126.4(SPTA1):c.3909C>A (p.Asn1303Lys) rs1651939630
NM_003126.4(SPTA1):c.3929G>T (p.Gly1310Val)
NM_003126.4(SPTA1):c.3952G>C (p.Ala1318Pro) rs2101838875
NM_003126.4(SPTA1):c.401A>G (p.Glu134Gly)
NM_003126.4(SPTA1):c.4058C>T (p.Ala1353Val)
NM_003126.4(SPTA1):c.409C>A (p.Arg137Ser)
NM_003126.4(SPTA1):c.409C>T (p.Arg137Cys)
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.4240C>G (p.Arg1414Gly) rs201399968
NM_003126.4(SPTA1):c.4298T>C (p.Met1433Thr)
NM_003126.4(SPTA1):c.4306C>T (p.Arg1436Trp)
NM_003126.4(SPTA1):c.4339-188C>G rs979512757
NM_003126.4(SPTA1):c.438G>C (p.Leu146=) rs1280197961
NM_003126.4(SPTA1):c.4408G>A (p.Glu1470Lys)
NM_003126.4(SPTA1):c.4419_4420delinsTT (p.Arg1474Trp)
NM_003126.4(SPTA1):c.4442_4443insTCG (p.Asp1480_Arg1481insSer)
NM_003126.4(SPTA1):c.4448A>G (p.Lys1483Arg)
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.4520G>A (p.Arg1507Gln)
NM_003126.4(SPTA1):c.459_460insATGCTGCGGGCCCTGCTGTTAGAGCTGACCCTGGAGAAGGGTGACCAG (p.Gln153_Leu154insMetLeuArgAlaLeuLeuLeuGluLeuThrLeuGluLysGlyAspGln) rs2101946108
NM_003126.4(SPTA1):c.4605+4del rs756036039
NM_003126.4(SPTA1):c.466C>T (p.Arg156Trp)
NM_003126.4(SPTA1):c.4676T>C (p.Ile1559Thr)
NM_003126.4(SPTA1):c.4702_4703inv (p.Cys1568His)
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.4768G>C (p.Asp1590His)
NM_003126.4(SPTA1):c.4789A>G (p.Asn1597Asp)
NM_003126.4(SPTA1):c.4833G>T (p.Arg1611Ser)
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.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.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.5171A>G (p.Asp1724Gly)
NM_003126.4(SPTA1):c.5180C>T (p.Ser1727Phe)
NM_003126.4(SPTA1):c.5190-26C>G rs777919453
NM_003126.4(SPTA1):c.5221T>A (p.Tyr1741Asn)
NM_003126.4(SPTA1):c.5238G>C (p.Gln1746His)
NM_003126.4(SPTA1):c.5238G>T (p.Gln1746His)
NM_003126.4(SPTA1):c.5270G>T (p.Arg1757Leu)
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.5310G>C (p.Gln1770His)
NM_003126.4(SPTA1):c.534G>A (p.Glu178=)
NM_003126.4(SPTA1):c.5351C>T (p.Ala1784Val)
NM_003126.4(SPTA1):c.5389T>C (p.Phe1797Leu)
NM_003126.4(SPTA1):c.5531G>C (p.Arg1844Pro)
NM_003126.4(SPTA1):c.5639C>T (p.Ala1880Val)
NM_003126.4(SPTA1):c.5801A>T (p.Asn1934Ile)
NM_003126.4(SPTA1):c.5803T>G (p.Trp1935Gly)
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.5965A>G (p.Thr1989Ala)
NM_003126.4(SPTA1):c.5989T>C (p.Ser1997Pro)
NM_003126.4(SPTA1):c.6004C>A (p.Gln2002Lys)
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.6107T>G (p.Leu2036Arg)
NM_003126.4(SPTA1):c.6120G>A (p.Lys2040=) rs1650012277
NM_003126.4(SPTA1):c.6228T>A (p.Asn2076Lys)
NM_003126.4(SPTA1):c.6236G>A (p.Arg2079Gln)
NM_003126.4(SPTA1):c.6250G>C (p.Asp2084His)
NM_003126.4(SPTA1):c.6272C>T (p.Ser2091Phe)
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.6417+5C>T
NM_003126.4(SPTA1):c.6418-23T>C rs2101758142
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.6549-13G>A
NM_003126.4(SPTA1):c.6557T>C (p.Leu2186Pro)
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.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.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.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.6974C>T (p.Ala2325Val)
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.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.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.853C>A (p.Pro285Thr) rs150007668
NM_003126.4(SPTA1):c.853C>G (p.Pro285Ala) rs150007668
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.957G>A (p.Lys319=) rs752690778

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