|
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.2909C>A (p.Ala970Asp)
|
rs35948326
|
0.03419
|
|
NM_003126.4(SPTA1):c.2870C>T (p.Ala957Val)
|
rs34706737
|
0.02931
|
|
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.3693C>T (p.Asp1231=)
|
rs34773716
|
0.02215
|
|
NM_003126.4(SPTA1):c.2418G>A (p.Glu806=)
|
rs35318623
|
0.02096
|
|
NM_003126.4(SPTA1):c.4453C>T (p.Leu1485Phe)
|
rs34973695
|
0.01772
|
|
NM_003126.4(SPTA1):c.2472C>T (p.Asp824=)
|
rs35856400
|
0.01596
|
|
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
|
0.01197
|
|
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
|
0.00836
|
|
NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys)
|
rs148912436
|
0.00793
|
|
NM_003126.4(SPTA1):c.3037-14T>C
|
rs142102801
|
0.00699
|
|
NM_003126.4(SPTA1):c.3149C>T (p.Pro1050Leu)
|
rs116297260
|
0.00678
|
|
NM_003126.4(SPTA1):c.1533A>G (p.Ala511=)
|
rs34446973
|
0.00666
|
|
NM_003126.4(SPTA1):c.441C>T (p.Thr147=)
|
rs73020287
|
0.00629
|
|
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
|
0.00479
|
|
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.33G>C (p.Glu11Asp)
|
rs41273533
|
0.00424
|
|
NM_003126.4(SPTA1):c.3398G>C (p.Arg1133Pro)
|
rs35733059
|
0.00420
|
|
NM_003126.4(SPTA1):c.1078A>T (p.Thr360Ser)
|
rs34133563
|
0.00401
|
|
NM_003126.4(SPTA1):c.1600-10A>G
|
rs148156245
|
0.00361
|
|
NM_003126.4(SPTA1):c.5911G>A (p.Asp1971Asn)
|
rs116466258
|
0.00337
|
|
NM_003126.4(SPTA1):c.4477C>T (p.Arg1493Trp)
|
rs35237700
|
0.00325
|
|
NM_003126.4(SPTA1):c.793A>G (p.Asn265Asp)
|
rs183647059
|
0.00307
|
|
NM_003126.4(SPTA1):c.1731G>T (p.Leu577Phe)
|
rs34211240
|
0.00283
|
|
NM_003126.4(SPTA1):c.679G>A (p.Glu227Lys)
|
rs199598260
|
0.00270
|
|
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
|
0.00231
|
|
NM_003126.4(SPTA1):c.1181A>G (p.Asn394Ser)
|
rs111834376
|
0.00180
|
|
NM_003126.4(SPTA1):c.748C>T (p.Arg250Cys)
|
rs143459302
|
0.00169
|
|
NM_003126.4(SPTA1):c.7104G>T (p.Lys2368Asn)
|
rs112884419
|
0.00162
|
|
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.1982G>A (p.Arg661His)
|
rs201845149
|
0.00145
|
|
NM_003126.4(SPTA1):c.6533C>T (p.Ala2178Val)
|
rs115466520
|
0.00144
|
|
NM_003126.4(SPTA1):c.2296G>A (p.Ala766Thr)
|
rs11265047
|
0.00137
|
|
NM_003126.4(SPTA1):c.5378G>A (p.Arg1793Gln)
|
rs200938874
|
0.00127
|
|
NM_003126.4(SPTA1):c.6132G>C (p.Leu2044=)
|
rs186987240
|
0.00125
|
|
NM_003126.4(SPTA1):c.192T>A (p.Asp64Glu)
|
rs200860772
|
0.00117
|
|
NM_003126.4(SPTA1):c.775G>A (p.Ala259Thr)
|
rs187932146
|
0.00113
|
|
NM_003126.4(SPTA1):c.174C>T (p.Phe58=)
|
rs190704778
|
0.00110
|
|
NM_003126.4(SPTA1):c.3062A>T (p.Asp1021Val)
|
rs200511900
|
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.3357G>C (p.Lys1119Asn)
|
rs200230894
|
0.00098
|
|
NM_003126.4(SPTA1):c.2655T>C (p.Arg885=)
|
rs368544526
|
0.00096
|
|
NM_003126.4(SPTA1):c.3715-11T>C
|
rs147184530
|
0.00094
|
|
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.2889C>T (p.Asn963=)
|
rs371639635
|
0.00086
|
|
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.4311C>T (p.Asp1437=)
|
rs189877287
|
0.00062
|
|
NM_003126.4(SPTA1):c.3389A>G (p.Asn1130Ser)
|
rs202016242
|
0.00059
|
|
NM_003126.4(SPTA1):c.7068A>C (p.Glu2356Asp)
|
rs78598639
|
0.00056
|
|
NM_003126.4(SPTA1):c.1688G>A (p.Arg563Gln)
|
rs202243588
|
0.00051
|
|
NM_003126.4(SPTA1):c.4711T>G (p.Cys1571Gly)
|
rs201601992
|
0.00049
|
|
NM_003126.4(SPTA1):c.3742C>T (p.Arg1248Trp)
|
rs200714808
|
0.00043
|
|
NM_003126.4(SPTA1):c.3829C>T (p.Arg1277Cys)
|
rs143642542
|
0.00042
|
|
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.2182A>G (p.Lys728Glu)
|
rs200438116
|
0.00038
|
|
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.1687C>T (p.Arg563Trp)
|
rs369087649
|
0.00035
|
|
NM_003126.4(SPTA1):c.4733T>A (p.Met1578Lys)
|
rs200648256
|
0.00033
|
|
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.2020G>C (p.Glu674Gln)
|
rs201806839
|
0.00029
|
|
NM_003126.4(SPTA1):c.401A>G (p.Glu134Gly)
|
rs191151467
|
0.00029
|
|
NM_003126.4(SPTA1):c.4240C>T (p.Arg1414Cys)
|
rs201399968
|
0.00026
|
|
NM_003126.4(SPTA1):c.6549-4C>G
|
rs199640503
|
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.3622G>A (p.Ala1208Thr)
|
rs180925766
|
0.00024
|
|
NM_003126.4(SPTA1):c.2216G>A (p.Arg739His)
|
rs145972324
|
0.00021
|
|
NM_003126.4(SPTA1):c.6851A>G (p.Asp2284Gly)
|
rs374589766
|
0.00021
|
|
NM_003126.4(SPTA1):c.3472C>T (p.Arg1158Trp)
|
rs374770895
|
0.00019
|
|
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.466C>T (p.Arg156Trp)
|
rs377051298
|
0.00017
|
|
NM_003126.4(SPTA1):c.2506A>G (p.Arg836Gly)
|
rs201844450
|
0.00016
|
|
NM_003126.4(SPTA1):c.2654G>A (p.Arg885His)
|
rs370989483
|
0.00016
|
|
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.1702C>T (p.Arg568Cys)
|
rs201395636
|
0.00015
|
|
NM_003126.4(SPTA1):c.4408G>A (p.Glu1470Lys)
|
rs376552785
|
0.00014
|
|
NM_003126.4(SPTA1):c.4850G>A (p.Arg1617Gln)
|
rs564887323
|
0.00014
|
|
NM_003126.4(SPTA1):c.5786C>G (p.Ala1929Gly)
|
rs199547344
|
0.00014
|
|
NM_003126.4(SPTA1):c.6026G>A (p.Arg2009His)
|
rs188580757
|
0.00014
|
|
NM_003126.4(SPTA1):c.4907C>G (p.Ala1636Gly)
|
rs750663070
|
0.00013
|
|
NM_003126.4(SPTA1):c.6258G>A (p.Glu2086=)
|
rs368317545
|
0.00013
|
|
NM_003126.4(SPTA1):c.427C>A (p.Leu143Met)
|
rs746078222
|
0.00012
|
|
NM_003126.4(SPTA1):c.1342C>T (p.Arg448Trp)
|
rs199930162
|
0.00011
|
|
NM_003126.4(SPTA1):c.749G>A (p.Arg250His)
|
rs759192785
|
0.00011
|
|
NM_003126.4(SPTA1):c.2672G>A (p.Arg891Gln)
|
rs36057043
|
0.00010
|
|
NM_003126.4(SPTA1):c.3940T>C (p.Ser1314Pro)
|
rs200308788
|
0.00010
|
|
NM_003126.4(SPTA1):c.122G>A (p.Arg41Gln)
|
rs778903567
|
0.00009
|
|
NM_003126.4(SPTA1):c.3066T>C (p.His1022=)
|
rs200825021
|
0.00009
|
|
NM_003126.4(SPTA1):c.3697G>A (p.Val1233Ile)
|
rs369125471
|
0.00009
|
|
NM_003126.4(SPTA1):c.4347G>T (p.Lys1449Asn)
|
rs375506528
|
0.00009
|
|
NM_003126.4(SPTA1):c.5311-4T>A
|
rs544472935
|
0.00009
|
|
NM_003126.4(SPTA1):c.6632G>A (p.Arg2211His)
|
rs751062593
|
0.00009
|
|
NM_003126.4(SPTA1):c.1588G>A (p.Glu530Lys)
|
rs767641820
|
0.00008
|
|
NM_003126.4(SPTA1):c.2665G>T (p.Ala889Ser)
|
rs200293444
|
0.00008
|
|
NM_003126.4(SPTA1):c.4004G>A (p.Arg1335His)
|
rs750860161
|
0.00008
|
|
NM_003126.4(SPTA1):c.6889C>T (p.Arg2297Trp)
|
rs375016862
|
0.00008
|
|
NM_003126.4(SPTA1):c.2161G>A (p.Glu721Lys)
|
rs561521001
|
0.00007
|
|
NM_003126.4(SPTA1):c.3442G>A (p.Gly1148Arg)
|
rs369038187
|
0.00007
|
|
NM_003126.4(SPTA1):c.2267T>C (p.Ile756Thr)
|
rs118088187
|
0.00006
|
|
NM_003126.4(SPTA1):c.3671G>A (p.Arg1224Gln)
|
rs370505272
|
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.5310+8T>A
|
rs187225341
|
0.00006
|
|
NM_003126.4(SPTA1):c.6136G>A (p.Val2046Met)
|
rs202105292
|
0.00006
|
|
NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro)
|
rs121918634
|
0.00006
|
|
NM_003126.4(SPTA1):c.1598T>C (p.Ile533Thr)
|
rs201913251
|
0.00005
|
|
NM_003126.4(SPTA1):c.1669C>T (p.Arg557Cys)
|
rs143816549
|
0.00005
|
|
NM_003126.4(SPTA1):c.2204C>T (p.Ala735Val)
|
rs377362395
|
0.00005
|
|
NM_003126.4(SPTA1):c.5020C>T (p.Leu1674Phe)
|
rs376908088
|
0.00005
|
|
NM_003126.4(SPTA1):c.6250G>C (p.Asp2084His)
|
rs764529922
|
0.00005
|
|
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.2812C>G (p.Leu938Val)
|
rs36109350
|
0.00004
|
|
NM_003126.4(SPTA1):c.326C>T (p.Ser109Phe)
|
rs3737521
|
0.00004
|
|
NM_003126.4(SPTA1):c.791C>A (p.Ala264Glu)
|
rs746343051
|
0.00004
|
|
NM_003126.4(SPTA1):c.1175C>T (p.Ala392Val)
|
rs748917509
|
0.00003
|
|
NM_003126.4(SPTA1):c.3997-5C>T
|
rs374510886
|
0.00003
|
|
NM_003126.4(SPTA1):c.4306C>T (p.Arg1436Trp)
|
rs570224404
|
0.00003
|
|
NM_003126.4(SPTA1):c.580G>A (p.Glu194Lys)
|
rs367689703
|
0.00003
|
|
NM_003126.4(SPTA1):c.5915C>A (p.Thr1972Asn)
|
rs201463616
|
0.00003
|
|
NM_003126.4(SPTA1):c.6390C>T (p.Thr2130=)
|
rs756418963
|
0.00003
|
|
NM_003126.4(SPTA1):c.6869G>A (p.Arg2290His)
|
rs759075251
|
0.00003
|
|
NM_003126.4(SPTA1):c.781T>C (p.Ser261Pro)
|
rs121918636
|
0.00003
|
|
NM_003126.4(SPTA1):c.790G>C (p.Ala264Pro)
|
rs758807774
|
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.4025C>T (p.Ala1342Val)
|
rs573444416
|
0.00002
|
|
NM_003126.4(SPTA1):c.4398T>G (p.Tyr1466Ter)
|
rs761105413
|
0.00002
|
|
NM_003126.4(SPTA1):c.4580C>G (p.Ser1527Cys)
|
rs746382885
|
0.00002
|
|
NM_003126.4(SPTA1):c.1069G>T (p.Ala357Ser)
|
rs200281735
|
0.00001
|
|
NM_003126.4(SPTA1):c.137G>T (p.Gly46Val)
|
rs121918638
|
0.00001
|
|
NM_003126.4(SPTA1):c.178C>T (p.Arg60Ter)
|
rs373695294
|
0.00001
|
|
NM_003126.4(SPTA1):c.1833+1G>A
|
rs1035389616
|
0.00001
|
|
NM_003126.4(SPTA1):c.1900A>G (p.Lys634Glu)
|
rs377757393
|
0.00001
|
|
NM_003126.4(SPTA1):c.2806-13T>G
|
rs757147440
|
0.00001
|
|
NM_003126.4(SPTA1):c.2905C>G (p.Gln969Glu)
|
rs967975662
|
0.00001
|
|
NM_003126.4(SPTA1):c.2954T>C (p.Leu985Ser)
|
rs774722673
|
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.353G>A (p.Arg118Gln)
|
rs761738511
|
0.00001
|
|
NM_003126.4(SPTA1):c.3584C>T (p.Thr1195Met)
|
rs781270002
|
0.00001
|
|
NM_003126.4(SPTA1):c.3667C>T (p.Arg1223Ter)
|
rs773675787
|
0.00001
|
|
NM_003126.4(SPTA1):c.3674A>G (p.His1225Arg)
|
rs758565569
|
0.00001
|
|
NM_003126.4(SPTA1):c.4339-2A>C
|
rs368931075
|
0.00001
|
|
NM_003126.4(SPTA1):c.4919C>G (p.Ala1640Gly)
|
rs369714529
|
0.00001
|
|
NM_003126.4(SPTA1):c.5040C>T (p.Asn1680=)
|
rs749363866
|
0.00001
|
|
NM_003126.4(SPTA1):c.5336T>C (p.Leu1779Pro)
|
rs577123327
|
0.00001
|
|
NM_003126.4(SPTA1):c.6006G>T (p.Gln2002His)
|
rs773715691
|
0.00001
|
|
NM_003126.4(SPTA1):c.6452G>T (p.Arg2151Ile)
|
rs202169454
|
0.00001
|
|
NM_003126.4(SPTA1):c.6631C>T (p.Arg2211Cys)
|
rs773800556
|
0.00001
|
|
NM_003126.4(SPTA1):c.7134+2T>G
|
rs1170758603
|
0.00001
|
|
NM_003126.4(SPTA1):c.802C>T (p.Arg268Ter)
|
rs764157190
|
0.00001
|
|
NM_003126.4(SPTA1):c.82C>T (p.Arg28Cys)
|
rs121918642
|
0.00001
|
|
NM_003126.4(SPTA1):c.-58CT[12]
|
rs111674514
|
|
|
NM_003126.4(SPTA1):c.101G>C (p.Arg34Pro)
|
rs567686069
|
|
|
NM_003126.4(SPTA1):c.121C>A (p.Arg41=)
|
rs121918640
|
|
|
NM_003126.4(SPTA1):c.1273C>T (p.Arg425Ter)
|
rs1273653963
|
|
|
NM_003126.4(SPTA1):c.1300C>G (p.Gln434Glu)
|
rs924692638
|
|
|
NM_003126.4(SPTA1):c.134G>C (p.Arg45Thr)
|
rs374697328
|
|
|
NM_003126.4(SPTA1):c.1350+1G>C
|
rs2525292291
|
|
|
NM_003126.4(SPTA1):c.1403G>A (p.Arg468His)
|
|
|
|
NM_003126.4(SPTA1):c.1406_1408del (p.His469del)
|
rs775280006
|
|
|
NM_003126.4(SPTA1):c.1468A>C (p.Ser490Arg)
|
|
|
|
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.1902G>A (p.Lys634=)
|
rs374442926
|
|
|
NM_003126.4(SPTA1):c.2209G>A (p.Ala737Thr)
|
|
|
|
NM_003126.4(SPTA1):c.230C>A (p.Thr77Asn)
|
|
|
|
NM_003126.4(SPTA1):c.230C>T (p.Thr77Ile)
|
|
|
|
NM_003126.4(SPTA1):c.2353C>T (p.Arg785Ter)
|
rs2022057
|
|
|
NM_003126.4(SPTA1):c.24+1G>A
|
rs772644757
|
|
|
NM_003126.4(SPTA1):c.2659C>T (p.Arg887Ter)
|
rs757845058
|
|
|
NM_003126.4(SPTA1):c.2938C>T (p.Gln980Ter)
|
rs539524312
|
|
|
NM_003126.4(SPTA1):c.2947A>G (p.Met983Val)
|
|
|
|
NM_003126.4(SPTA1):c.2980C>T (p.Arg994Ter)
|
rs1265895182
|
|
|
NM_003126.4(SPTA1):c.3374del (p.Lys1125fs)
|
rs2525111885
|
|
|
NM_003126.4(SPTA1):c.3724C>T (p.Leu1242=)
|
|
|
|
NM_003126.4(SPTA1):c.3808G>T (p.Ala1270Ser)
|
|
|
|
NM_003126.4(SPTA1):c.3932T>C (p.Met1311Thr)
|
|
|
|
NM_003126.4(SPTA1):c.398T>A (p.Ile133Lys)
|
|
|
|
NM_003126.4(SPTA1):c.4076_4077del (p.Gly1359fs)
|
rs2525049766
|
|
|
NM_003126.4(SPTA1):c.409C>A (p.Arg137Ser)
|
rs772799574
|
|
|
NM_003126.4(SPTA1):c.4106dup (p.Leu1370fs)
|
rs1161647781
|
|
|
NM_003126.4(SPTA1):c.410G>A (p.Arg137His)
|
rs200716254
|
|
|
NM_003126.4(SPTA1):c.4339-99C>T
|
rs200830867
|
|
|
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup)
|
rs757679761
|
|
|
NM_003126.4(SPTA1):c.461TGC[3] (p.Leu155dup)
|
rs749754226
|
|
|
NM_003126.4(SPTA1):c.4651C>T (p.Arg1551Ter)
|
rs777656764
|
|
|
NM_003126.4(SPTA1):c.4833G>A (p.Arg1611=)
|
rs145288947
|
|
|
NM_003126.4(SPTA1):c.4875+12C>T
|
rs139797540
|
|
|
NM_003126.4(SPTA1):c.5102T>A (p.Leu1701Ter)
|
rs200748323
|
|
|
NM_003126.4(SPTA1):c.5281G>T (p.Glu1761Ter)
|
rs753849540
|
|
|
NM_003126.4(SPTA1):c.531+1G>A
|
rs1402383909
|
|
|
NM_003126.4(SPTA1):c.5386C>T (p.Gln1796Ter)
|
rs763899069
|
|
|
NM_003126.4(SPTA1):c.5433-8del
|
rs771091438
|
|
|
NM_003126.4(SPTA1):c.5779G>A (p.Asp1927Asn)
|
|
|
|
NM_003126.4(SPTA1):c.5834-18A>G
|
rs1397822810
|
|
|
NM_003126.4(SPTA1):c.6047G>A (p.Arg2016His)
|
rs199993378
|
|
|
NM_003126.4(SPTA1):c.6097G>A (p.Glu2033Lys)
|
|
|
|
NM_003126.4(SPTA1):c.6121-11del
|
rs548425429
|
|
|
NM_003126.4(SPTA1):c.6129C>A (p.Asp2043Glu)
|
|
|
|
NM_003126.4(SPTA1):c.6135C>T (p.Phe2045=)
|
|
|
|
NM_003126.4(SPTA1):c.6154del (p.Ala2052fs)
|
rs1485424248
|
|
|
NM_003126.4(SPTA1):c.6223C>T (p.Leu2075=)
|
|
|
|
NM_003126.4(SPTA1):c.6319C>T (p.Gln2107Ter)
|
rs974172420
|
|
|
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp)
|
rs41273519
|
|
|
NM_003126.4(SPTA1):c.6549-12G>A
|
rs857716
|
|
|
NM_003126.4(SPTA1):c.678+7T>C
|
rs1654731473
|
|
|
NM_003126.4(SPTA1):c.6788+1G>A
|
rs2526183021
|
|
|
NM_003126.4(SPTA1):c.6789-19_6789-17dup
|
rs5778083
|
|
|
NM_003126.4(SPTA1):c.6813_6814del (p.Glu2271fs)
|
rs1649424538
|
|
|
NM_003126.4(SPTA1):c.6871del (p.Arg2290_Leu2291insTer)
|
rs1396249069
|
|
|
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
|
|