NM_152594.3(SPRED1):c.291G>A (p.Lys97=)
|
rs7182445
|
0.82029
|
NM_152594.3(SPRED1):c.424-8C>A
|
rs7180446
|
0.82015
|
NM_152594.3(SPRED1):c.1044T>C (p.Val348=)
|
rs3751526
|
0.81965
|
NM_152594.3(SPRED1):c.684+49_684+50insTT
|
rs61670754
|
0.81547
|
NM_152594.3(SPRED1):c.*4662T>A
|
rs10852019
|
0.77666
|
NM_152594.3(SPRED1):c.*5110C>T
|
rs8026118
|
0.76725
|
NM_152594.3(SPRED1):c.424-18G>A
|
rs7179118
|
0.23890
|
NM_152594.3(SPRED1):c.*3830G>A
|
rs8039150
|
0.22628
|
NM_152594.3(SPRED1):c.*4932A>G
|
rs16966843
|
0.20289
|
NM_152594.3(SPRED1):c.*2831G>A
|
rs35490364
|
0.19653
|
NM_152594.3(SPRED1):c.424-98=
|
rs7163339
|
0.17991
|
NM_152594.3(SPRED1):c.424-8=
|
rs7180446
|
0.17985
|
NM_152594.3(SPRED1):c.*3521A>G
|
rs11634702
|
0.11111
|
NM_152594.3(SPRED1):c.*1724A>C
|
rs1554527
|
0.08749
|
NM_152594.3(SPRED1):c.*3996G>A
|
rs72725364
|
0.08710
|
NM_152594.3(SPRED1):c.*248T>C
|
rs16966842
|
0.04503
|
NM_152594.3(SPRED1):c.*256C>T
|
rs145373657
|
0.01162
|
NM_152594.3(SPRED1):c.*2885G>A
|
rs79309779
|
0.01137
|
NM_152594.3(SPRED1):c.*3057A>G
|
rs72725362
|
0.01095
|
NM_152594.3(SPRED1):c.*3698T>G
|
rs76527876
|
0.00908
|
NM_152594.3(SPRED1):c.-93C>T
|
rs192699510
|
0.00724
|
NM_152594.3(SPRED1):c.583-7A>G
|
rs115970207
|
0.00630
|
NM_152594.3(SPRED1):c.*427A>T
|
rs185290497
|
0.00592
|
NM_152594.3(SPRED1):c.*3591C>T
|
rs147489619
|
0.00529
|
NM_152594.3(SPRED1):c.*1040G>A
|
rs115568221
|
0.00445
|
NM_152594.3(SPRED1):c.*2570T>C
|
rs111997668
|
0.00401
|
NM_152594.3(SPRED1):c.*3623G>T
|
rs148525432
|
0.00348
|
NM_152594.3(SPRED1):c.*2742G>T
|
rs149336440
|
0.00260
|
NM_152594.3(SPRED1):c.*5398G>T
|
rs115003524
|
0.00257
|
NM_152594.3(SPRED1):c.*3561G>A
|
rs181980647
|
0.00234
|
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala)
|
rs114636635
|
0.00204
|
NM_152594.3(SPRED1):c.*4372A>G
|
rs187788660
|
0.00113
|
NM_152594.3(SPRED1):c.675C>T (p.Ser225=)
|
rs144764225
|
0.00092
|
NM_152594.3(SPRED1):c.-191C>T
|
rs556907443
|
0.00088
|
NM_152594.3(SPRED1):c.*3745A>G
|
rs142928983
|
0.00080
|
NM_152594.3(SPRED1):c.702C>G (p.Ile234Met)
|
rs138553244
|
0.00074
|
NM_152594.3(SPRED1):c.207+15A>G
|
rs377288061
|
0.00073
|
NM_152594.3(SPRED1):c.*4471C>A
|
rs574232846
|
0.00071
|
NM_152594.3(SPRED1):c.*4472C>A
|
rs541556786
|
0.00071
|
NM_152594.3(SPRED1):c.939G>A (p.Thr313=)
|
rs140644874
|
0.00070
|
NM_152594.3(SPRED1):c.*3192G>A
|
rs566065329
|
0.00064
|
NM_152594.3(SPRED1):c.*2359G>C
|
rs886051112
|
0.00045
|
NM_152594.3(SPRED1):c.-309C>T
|
rs578173447
|
0.00043
|
NM_152594.3(SPRED1):c.30C>A (p.Asn10Lys)
|
rs201692618
|
0.00042
|
NM_152594.3(SPRED1):c.*633A>G
|
rs118146919
|
0.00037
|
NM_152594.3(SPRED1):c.944C>T (p.Pro315Leu)
|
rs115440602
|
0.00029
|
NM_152594.3(SPRED1):c.377-10A>G
|
rs376134678
|
0.00026
|
NM_152594.3(SPRED1):c.*565A>C
|
rs866578422
|
0.00023
|
NM_152594.3(SPRED1):c.*105A>G
|
rs545295358
|
0.00022
|
NM_152594.3(SPRED1):c.886T>C (p.Cys296Arg)
|
rs554327738
|
0.00021
|
NM_152594.3(SPRED1):c.*5540A>G
|
rs551994427
|
0.00020
|
NM_152594.3(SPRED1):c.*4304G>A
|
rs537477031
|
0.00017
|
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile)
|
rs147204964
|
0.00017
|
NM_152594.3(SPRED1):c.*2018T>G
|
rs188392935
|
0.00016
|
NM_152594.3(SPRED1):c.*2247A>G
|
rs118057877
|
0.00016
|
NM_152594.3(SPRED1):c.*4822A>G
|
rs576136057
|
0.00016
|
NM_152594.3(SPRED1):c.*3543C>T
|
rs1007271242
|
0.00015
|
NM_152594.3(SPRED1):c.376+3A>T
|
rs775985211
|
0.00015
|
NM_152594.3(SPRED1):c.*1747A>C
|
rs561525888
|
0.00013
|
NM_152594.3(SPRED1):c.938C>T (p.Thr313Met)
|
rs766814966
|
0.00013
|
NM_152594.3(SPRED1):c.963G>A (p.Lys321=)
|
rs369711772
|
0.00011
|
NM_152594.3(SPRED1):c.*1897C>T
|
rs776375597
|
0.00010
|
NM_152594.3(SPRED1):c.*3657C>T
|
rs761527047
|
0.00010
|
NM_152594.3(SPRED1):c.177T>C (p.Phe59=)
|
rs397517871
|
0.00010
|
NM_152594.3(SPRED1):c.26A>T (p.Asp9Val)
|
rs200157475
|
0.00010
|
NM_152594.3(SPRED1):c.*3289C>T
|
rs867439626
|
0.00009
|
NM_152594.3(SPRED1):c.1192G>A (p.Asp398Asn)
|
rs771480941
|
0.00009
|
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile)
|
rs147474792
|
0.00008
|
NM_152594.3(SPRED1):c.*1563C>T
|
rs886051110
|
0.00006
|
NM_152594.3(SPRED1):c.*3584G>A
|
rs886051117
|
0.00006
|
NM_152594.3(SPRED1):c.*4697G>A
|
rs188784206
|
0.00006
|
NM_152594.3(SPRED1):c.*5418A>G
|
rs547680341
|
0.00006
|
NM_152594.3(SPRED1):c.1105A>T (p.Met369Leu)
|
rs779660163
|
0.00006
|
NM_152594.3(SPRED1):c.1273A>G (p.Met425Val)
|
rs368307475
|
0.00006
|
NM_152594.3(SPRED1):c.1283G>A (p.Arg428His)
|
rs369492789
|
0.00006
|
NM_152594.3(SPRED1):c.1289G>C (p.Gly430Ala)
|
rs749389617
|
0.00006
|
NM_152594.3(SPRED1):c.640C>T (p.Arg214Trp)
|
rs376699107
|
0.00006
|
NM_152594.3(SPRED1):c.-24A>G
|
rs755230054
|
0.00005
|
NM_152594.3(SPRED1):c.1006G>A (p.Val336Ile)
|
rs373477920
|
0.00005
|
NM_152594.3(SPRED1):c.1176G>A (p.Ser392=)
|
rs755223172
|
0.00005
|
NM_152594.3(SPRED1):c.685-8T>C
|
rs760690837
|
0.00005
|
NM_152594.3(SPRED1):c.*2117A>G
|
rs1037098024
|
0.00004
|
NM_152594.3(SPRED1):c.1260C>T (p.Tyr420=)
|
rs202087411
|
0.00004
|
NM_152594.3(SPRED1):c.1295C>T (p.Ala432Val)
|
rs200871227
|
0.00004
|
NM_152594.3(SPRED1):c.32+20C>T
|
rs374284804
|
0.00004
|
NM_152594.3(SPRED1):c.424-5A>G
|
rs752656697
|
0.00004
|
NM_152594.3(SPRED1):c.438T>C (p.Asp146=)
|
rs757357920
|
0.00004
|
NM_152594.3(SPRED1):c.594T>C (p.Gly198=)
|
rs756643495
|
0.00004
|
NM_152594.3(SPRED1):c.634G>A (p.Val212Ile)
|
rs769630742
|
0.00004
|
NM_152594.3(SPRED1):c.645A>C (p.Gln215His)
|
rs144227155
|
0.00004
|
NM_152594.3(SPRED1):c.842A>G (p.Gln281Arg)
|
rs1427402192
|
0.00004
|
NM_152594.3(SPRED1):c.*2853A>G
|
rs187134665
|
0.00003
|
NM_152594.3(SPRED1):c.*4046G>A
|
rs886051118
|
0.00003
|
NM_152594.3(SPRED1):c.1202G>T (p.Cys401Phe)
|
rs779058019
|
0.00003
|
NM_152594.3(SPRED1):c.163T>C (p.Cys55Arg)
|
rs775334473
|
0.00003
|
NM_152594.3(SPRED1):c.181C>T (p.Arg61Cys)
|
rs765788978
|
0.00003
|
NM_152594.3(SPRED1):c.306G>A (p.Thr102=)
|
rs372791883
|
0.00003
|
NM_152594.3(SPRED1):c.371C>T (p.Ser124Phe)
|
rs760132893
|
0.00003
|
NM_152594.3(SPRED1):c.385G>A (p.Glu129Lys)
|
rs764823722
|
0.00003
|
NM_152594.3(SPRED1):c.401C>G (p.Ala134Gly)
|
rs762633609
|
0.00003
|
NM_152594.3(SPRED1):c.42T>C (p.Tyr14=)
|
rs764234046
|
0.00003
|
NM_152594.3(SPRED1):c.583-9G>T
|
rs1421813002
|
0.00003
|
NM_152594.3(SPRED1):c.685-10T>G
|
rs1325841398
|
0.00003
|
NM_152594.3(SPRED1):c.864A>C (p.Lys288Asn)
|
rs777379558
|
0.00003
|
NM_152594.3(SPRED1):c.866A>C (p.Lys289Thr)
|
rs372665535
|
0.00003
|
NM_152594.3(SPRED1):c.*2398T>G
|
rs1276005784
|
0.00002
|
NM_152594.3(SPRED1):c.*3323C>T
|
rs547019744
|
0.00002
|
NM_152594.3(SPRED1):c.*3340G>A
|
rs571542327
|
0.00002
|
NM_152594.3(SPRED1):c.*3544G>A
|
rs886051116
|
0.00002
|
NM_152594.3(SPRED1):c.*3659A>G
|
rs1015221980
|
0.00002
|
NM_152594.3(SPRED1):c.*4725A>G
|
rs530058944
|
0.00002
|
NM_152594.3(SPRED1):c.*810A>G
|
rs886051108
|
0.00002
|
NM_152594.3(SPRED1):c.1000C>T (p.Arg334Cys)
|
rs765603808
|
0.00002
|
NM_152594.3(SPRED1):c.1005C>T (p.Cys335=)
|
rs768937237
|
0.00002
|
NM_152594.3(SPRED1):c.1080A>G (p.Lys360=)
|
rs749654043
|
0.00002
|
NM_152594.3(SPRED1):c.1282C>T (p.Arg428Cys)
|
rs941091989
|
0.00002
|
NM_152594.3(SPRED1):c.182G>A (p.Arg61His)
|
rs750686148
|
0.00002
|
NM_152594.3(SPRED1):c.207+11A>T
|
rs755730953
|
0.00002
|
NM_152594.3(SPRED1):c.426A>G (p.Ala142=)
|
rs753701682
|
0.00002
|
NM_152594.3(SPRED1):c.610A>G (p.Ile204Val)
|
rs758087535
|
0.00002
|
NM_152594.3(SPRED1):c.633C>T (p.Tyr211=)
|
rs149991304
|
0.00002
|
NM_152594.3(SPRED1):c.685-17A>G
|
rs1223645192
|
0.00002
|
NM_152594.3(SPRED1):c.687C>A (p.Val229=)
|
rs376226762
|
0.00002
|
NM_152594.3(SPRED1):c.875A>G (p.Tyr292Cys)
|
rs201933663
|
0.00002
|
NM_152594.3(SPRED1):c.879G>A (p.Leu293=)
|
rs535687467
|
0.00002
|
NM_152594.3(SPRED1):c.887G>A (p.Cys296Tyr)
|
rs200974459
|
0.00002
|
NM_152594.3(SPRED1):c.*1337A>C
|
rs570038934
|
0.00001
|
NM_152594.3(SPRED1):c.*149G>A
|
rs776485386
|
0.00001
|
NM_152594.3(SPRED1):c.*1727G>T
|
rs1296705457
|
0.00001
|
NM_152594.3(SPRED1):c.*2251G>A
|
rs1045444732
|
0.00001
|
NM_152594.3(SPRED1):c.*2444T>A
|
rs1355715078
|
0.00001
|
NM_152594.3(SPRED1):c.*2990T>C
|
rs1888571276
|
0.00001
|
NM_152594.3(SPRED1):c.*4744G>T
|
rs886051120
|
0.00001
|
NM_152594.3(SPRED1):c.*5202C>T
|
rs541213700
|
0.00001
|
NM_152594.3(SPRED1):c.*936C>A
|
rs1888514694
|
0.00001
|
NM_152594.3(SPRED1):c.1001G>A (p.Arg334His)
|
rs146702985
|
0.00001
|
NM_152594.3(SPRED1):c.1031A>G (p.His344Arg)
|
rs376679136
|
0.00001
|
NM_152594.3(SPRED1):c.1033G>C (p.Glu345Gln)
|
rs1306435872
|
0.00001
|
NM_152594.3(SPRED1):c.1085G>A (p.Cys362Tyr)
|
rs1255579349
|
0.00001
|
NM_152594.3(SPRED1):c.1146C>T (p.Asp382=)
|
rs1286583801
|
0.00001
|
NM_152594.3(SPRED1):c.1191C>T (p.Asp397=)
|
rs749745659
|
0.00001
|
NM_152594.3(SPRED1):c.1217C>T (p.Ala406Val)
|
rs748390368
|
0.00001
|
NM_152594.3(SPRED1):c.1238T>C (p.Ile413Thr)
|
rs1156410015
|
0.00001
|
NM_152594.3(SPRED1):c.123C>T (p.Ser41=)
|
rs748759533
|
0.00001
|
NM_152594.3(SPRED1):c.1261G>A (p.Val421Ile)
|
rs752958999
|
0.00001
|
NM_152594.3(SPRED1):c.1278C>T (p.Cys426=)
|
rs1313604330
|
0.00001
|
NM_152594.3(SPRED1):c.1298G>A (p.Cys433Tyr)
|
rs779454951
|
0.00001
|
NM_152594.3(SPRED1):c.1301G>T (p.Gly434Val)
|
rs746414913
|
0.00001
|
NM_152594.3(SPRED1):c.1307G>A (p.Cys436Tyr)
|
rs772421738
|
0.00001
|
NM_152594.3(SPRED1):c.1313G>T (p.Gly438Val)
|
rs573603750
|
0.00001
|
NM_152594.3(SPRED1):c.1324G>A (p.Ala442Thr)
|
rs761401264
|
0.00001
|
NM_152594.3(SPRED1):c.149A>T (p.Gln50Leu)
|
rs1475256958
|
0.00001
|
NM_152594.3(SPRED1):c.157A>G (p.Asn53Asp)
|
rs1261567261
|
0.00001
|
NM_152594.3(SPRED1):c.15G>C (p.Thr5=)
|
rs1278027767
|
0.00001
|
NM_152594.3(SPRED1):c.170A>G (p.Asp57Gly)
|
rs959758606
|
0.00001
|
NM_152594.3(SPRED1):c.196A>C (p.Arg66=)
|
rs751923342
|
0.00001
|
NM_152594.3(SPRED1):c.207+19A>G
|
rs369538663
|
0.00001
|
NM_152594.3(SPRED1):c.208-6T>C
|
rs1241478218
|
0.00001
|
NM_152594.3(SPRED1):c.211G>A (p.Val71Ile)
|
rs369150309
|
0.00001
|
NM_152594.3(SPRED1):c.27C>T (p.Asp9=)
|
rs727504717
|
0.00001
|
NM_152594.3(SPRED1):c.281T>C (p.Ile94Thr)
|
rs761473300
|
0.00001
|
NM_152594.3(SPRED1):c.304dup (p.Thr102fs)
|
rs1555391053
|
0.00001
|
NM_152594.3(SPRED1):c.305C>T (p.Thr102Met)
|
rs754706111
|
0.00001
|
NM_152594.3(SPRED1):c.321T>C (p.Ala107=)
|
rs770197803
|
0.00001
|
NM_152594.3(SPRED1):c.32A>T (p.Asp11Val)
|
rs1452661347
|
0.00001
|
NM_152594.3(SPRED1):c.33-11A>G
|
rs775671940
|
0.00001
|
NM_152594.3(SPRED1):c.33-1G>A
|
rs1895105626
|
0.00001
|
NM_152594.3(SPRED1):c.33-7A>G
|
rs760850290
|
0.00001
|
NM_152594.3(SPRED1):c.348C>T (p.Ile116=)
|
rs773363523
|
0.00001
|
NM_152594.3(SPRED1):c.353G>A (p.Arg118Lys)
|
rs373381933
|
0.00001
|
NM_152594.3(SPRED1):c.377-19del
|
rs1267902445
|
0.00001
|
NM_152594.3(SPRED1):c.384C>T (p.Pro128=)
|
rs761058615
|
0.00001
|
NM_152594.3(SPRED1):c.39T>C (p.Ser13=)
|
rs1303549798
|
0.00001
|
NM_152594.3(SPRED1):c.406G>A (p.Gly136Arg)
|
rs1555391158
|
0.00001
|
NM_152594.3(SPRED1):c.424-15G>A
|
rs1438431114
|
0.00001
|
NM_152594.3(SPRED1):c.446G>A (p.Ser149Asn)
|
rs373384814
|
0.00001
|
NM_152594.3(SPRED1):c.46C>T (p.Arg16Ter)
|
rs1057517941
|
0.00001
|
NM_152594.3(SPRED1):c.477A>T (p.Gln159His)
|
rs781477854
|
0.00001
|
NM_152594.3(SPRED1):c.505A>G (p.Arg169Gly)
|
rs1895994329
|
0.00001
|
NM_152594.3(SPRED1):c.50T>C (p.Val17Ala)
|
rs1421913267
|
0.00001
|
NM_152594.3(SPRED1):c.511T>C (p.Ser171Pro)
|
rs376527959
|
0.00001
|
NM_152594.3(SPRED1):c.561C>T (p.Tyr187=)
|
rs201335683
|
0.00001
|
NM_152594.3(SPRED1):c.564G>A (p.Met188Ile)
|
rs202092705
|
0.00001
|
NM_152594.3(SPRED1):c.578A>G (p.Asn193Ser)
|
rs766431294
|
0.00001
|
NM_152594.3(SPRED1):c.583A>T (p.Ile195Leu)
|
rs1385820657
|
0.00001
|
NM_152594.3(SPRED1):c.58G>C (p.Val20Leu)
|
rs780614363
|
0.00001
|
NM_152594.3(SPRED1):c.60G>C (p.Val20=)
|
rs367745143
|
0.00001
|
NM_152594.3(SPRED1):c.641G>A (p.Arg214Gln)
|
rs371274407
|
0.00001
|
NM_152594.3(SPRED1):c.683G>A (p.Arg228Lys)
|
rs951963194
|
0.00001
|
NM_152594.3(SPRED1):c.6C>A (p.Ser2Arg)
|
rs775693385
|
0.00001
|
NM_152594.3(SPRED1):c.700A>G (p.Ile234Val)
|
rs1199792537
|
0.00001
|
NM_152594.3(SPRED1):c.707A>G (p.His236Arg)
|
rs886051104
|
0.00001
|
NM_152594.3(SPRED1):c.70C>T (p.Arg24Ter)
|
rs121434313
|
0.00001
|
NM_152594.3(SPRED1):c.751C>T (p.Arg251Ter)
|
rs1172820756
|
0.00001
|
NM_152594.3(SPRED1):c.807T>G (p.Asn269Lys)
|
rs886041428
|
0.00001
|
NM_152594.3(SPRED1):c.892G>C (p.Asp298His)
|
rs761001792
|
0.00001
|
NM_152594.3(SPRED1):c.920A>G (p.Asp307Gly)
|
rs764868020
|
0.00001
|
NM_152594.3(SPRED1):c.922T>G (p.Ser308Ala)
|
rs765841849
|
0.00001
|
NM_152594.3(SPRED1):c.930A>G (p.Val310=)
|
rs1164761920
|
0.00001
|
NM_152594.3(SPRED1):c.954A>G (p.Leu318=)
|
rs753357510
|
0.00001
|
NM_152594.3(SPRED1):c.982G>A (p.Glu328Lys)
|
rs1352455265
|
0.00001
|
NM_152594.3(SPRED1):c.990T>G (p.Gly330=)
|
rs1184835258
|
0.00001
|
NM_152594.3(SPRED1):c.995G>A (p.Arg332His)
|
rs779966392
|
0.00001
|
NC_000015.10:g.(?_38253186)_(38253227_?)del
|
|
|
NC_000015.10:g.(?_38299363)_(38324819_?)del
|
|
|
NC_000015.10:g.(?_38299373)_(38357249_?)del
|
|
|
NC_000015.9:g.(?_38545367)_(38545438_?)del
|
|
|
NC_000015.9:g.(?_38545387)_(38545438_?)del
|
|
|
NC_000015.9:g.(?_38545387)_(38591768_?)dup
|
|
|
NC_000015.9:g.(?_38545387)_(38617020_?)dup
|
|
|
NC_000015.9:g.(?_38545387)_(38643865_?)del
|
|
|
NC_000015.9:g.(?_38591554)_(38643865_?)dup
|
|
|
NC_000015.9:g.(?_38591568)_(38643870_?)del
|
|
|
NC_000015.9:g.(?_38614422)_(38617030_?)del
|
|
|
NC_000015.9:g.(?_38631928)_(38643865_?)del
|
|
|
NM_152594.3(SPRED1):c.*1095A>G
|
rs1888519746
|
|
NM_152594.3(SPRED1):c.*1400G>A
|
rs886051109
|
|
NM_152594.3(SPRED1):c.*1659_*1662del
|
rs57589132
|
|
NM_152594.3(SPRED1):c.*1798A>C
|
rs886051111
|
|
NM_152594.3(SPRED1):c.*1833A>C
|
rs1225083790
|
|
NM_152594.3(SPRED1):c.*1967C>T
|
rs977825563
|
|
NM_152594.3(SPRED1):c.*2323T>C
|
rs1397459578
|
|
NM_152594.3(SPRED1):c.*2414del
|
rs532033889
|
|
NM_152594.3(SPRED1):c.*2420T>C
|
rs184024152
|
|
NM_152594.3(SPRED1):c.*2422A>G
|
rs1888552362
|
|
NM_152594.3(SPRED1):c.*2506_*2513del
|
rs770258605
|
|
NM_152594.3(SPRED1):c.*2539A>T
|
rs970641083
|
|
NM_152594.3(SPRED1):c.*2611C>T
|
rs181716461
|
|
NM_152594.3(SPRED1):c.*2843A>C
|
rs886051115
|
|
NM_152594.3(SPRED1):c.*3395G>A
|
rs140749542
|
|
NM_152594.3(SPRED1):c.*3536C>G
|
rs889076008
|
|
NM_152594.3(SPRED1):c.*3647T>G
|
rs186366365
|
|
NM_152594.3(SPRED1):c.*3701A>G
|
rs574179000
|
|
NM_152594.3(SPRED1):c.*3705A>G
|
rs888994607
|
|
NM_152594.3(SPRED1):c.*383G>A
|
rs1888501738
|
|
NM_152594.3(SPRED1):c.*3946G>A
|
rs8039337
|
|
NM_152594.3(SPRED1):c.*4136ATT[1]
|
rs369376164
|
|
NM_152594.3(SPRED1):c.*4781C>A
|
rs886051121
|
|
NM_152594.3(SPRED1):c.*4948AT[1]
|
rs886051122
|
|
NM_152594.3(SPRED1):c.*4987A>C
|
rs886051123
|
|
NM_152594.3(SPRED1):c.*5090dup
|
rs141174183
|
|
NM_152594.3(SPRED1):c.*5232G>A
|
rs886051124
|
|
NM_152594.3(SPRED1):c.*5263C>A
|
rs78521927
|
|
NM_152594.3(SPRED1):c.*5346A>C
|
rs886051125
|
|
NM_152594.3(SPRED1):c.*5440T>C
|
rs917966244
|
|
NM_152594.3(SPRED1):c.*5449A>G
|
rs1888638409
|
|
NM_152594.3(SPRED1):c.*578AT[11]
|
rs147547509
|
|
NM_152594.3(SPRED1):c.*578AT[12]
|
rs147547509
|
|
NM_152594.3(SPRED1):c.*578AT[13]
|
rs147547509
|
|
NM_152594.3(SPRED1):c.*578AT[8]
|
rs147547509
|
|
NM_152594.3(SPRED1):c.*581T>C
|
rs541503324
|
|
NM_152594.3(SPRED1):c.*632C>T
|
rs1888507927
|
|
NM_152594.3(SPRED1):c.-114G>A
|
rs1489810093
|
|
NM_152594.3(SPRED1):c.-294C>T
|
rs886051100
|
|
NM_152594.3(SPRED1):c.-87C>T
|
rs886051103
|
|
NM_152594.3(SPRED1):c.1008A>G (p.Val336=)
|
rs1555392775
|
|
NM_152594.3(SPRED1):c.1011C>A (p.Tyr337Ter)
|
rs2141016437
|
|
NM_152594.3(SPRED1):c.1011C>T (p.Tyr337=)
|
|
|
NM_152594.3(SPRED1):c.1015C>T (p.Gln339Ter)
|
rs1566876895
|
|
NM_152594.3(SPRED1):c.101T>C (p.Leu34Pro)
|
|
|
NM_152594.3(SPRED1):c.1025T>A (p.Phe342Tyr)
|
rs1888483954
|
|
NM_152594.3(SPRED1):c.1027A>G (p.Asn343Asp)
|
|
|
NM_152594.3(SPRED1):c.102T>C (p.Leu34=)
|
rs2140978435
|
|
NM_152594.3(SPRED1):c.1035_1047del (p.Gly350fs)
|
|
|
NM_152594.3(SPRED1):c.103G>T (p.Gly35Ter)
|
rs1555389690
|
|
NM_152594.3(SPRED1):c.1043_1044insCAGGGGAAAATGT (p.Cys352_Gln353insTer)
|
|
|
NM_152594.3(SPRED1):c.1044_1045delinsCC (p.Val348_Arg349=)
|
|
|
NM_152594.3(SPRED1):c.1044_1045delinsCT (p.Arg349Trp)
|
|
|
NM_152594.3(SPRED1):c.1044_1046delinsC (p.Arg349fs)
|
rs1566876929
|
|
NM_152594.3(SPRED1):c.1044_1056del (p.Gly350fs)
|
rs2141016462
|
|
NM_152594.3(SPRED1):c.1045_1046del (p.Arg349fs)
|
rs1566876941
|
|
NM_152594.3(SPRED1):c.104G>A (p.Gly35Glu)
|
|
|
NM_152594.3(SPRED1):c.1053del (p.Lys351fs)
|
rs1566876954
|
|
NM_152594.3(SPRED1):c.1062del (p.Asp354fs)
|
rs2141016500
|
|
NM_152594.3(SPRED1):c.1065T>C (p.Ala355=)
|
|
|
NM_152594.3(SPRED1):c.1067C>A (p.Pro356Gln)
|
|
|
NM_152594.3(SPRED1):c.1073del (p.Pro358fs)
|
|
|
NM_152594.3(SPRED1):c.1076T>A (p.Ile359Asn)
|
rs763738243
|
|
NM_152594.3(SPRED1):c.1078A>G (p.Lys360Glu)
|
|
|
NM_152594.3(SPRED1):c.1087A>G (p.Ile363Val)
|
|
|
NM_152594.3(SPRED1):c.1089A>G (p.Ile363Met)
|
|
|
NM_152594.3(SPRED1):c.108G>T (p.Gly36=)
|
|
|
NM_152594.3(SPRED1):c.1091_1106del (p.Tyr364fs)
|
|
|
NM_152594.3(SPRED1):c.1096G>A (p.Val366Ile)
|
|
|
NM_152594.3(SPRED1):c.1098T>G (p.Val366=)
|
rs1888486382
|
|
NM_152594.3(SPRED1):c.1099_1102del (p.Ser367fs)
|
rs1555392783
|
|
NM_152594.3(SPRED1):c.1103G>C (p.Cys368Ser)
|
rs2141016537
|
|
NM_152594.3(SPRED1):c.1109T>C (p.Leu370Pro)
|
rs2141016541
|
|
NM_152594.3(SPRED1):c.1110C>G (p.Leu370=)
|
rs876657584
|
|
NM_152594.3(SPRED1):c.1110C>T (p.Leu370=)
|
|
|
NM_152594.3(SPRED1):c.1117G>T (p.Glu373Ter)
|
|
|
NM_152594.3(SPRED1):c.1119G>C (p.Glu373Asp)
|
|
|
NM_152594.3(SPRED1):c.1125G>A (p.Met375Ile)
|
|
|
NM_152594.3(SPRED1):c.1132_1139del (p.His378fs)
|
rs2141016553
|
|
NM_152594.3(SPRED1):c.1142C>G (p.Ser381Ter)
|
|
|
NM_152594.3(SPRED1):c.1142del (p.Met380_Ser381insTer)
|
|
|
NM_152594.3(SPRED1):c.1143A>C (p.Ser381=)
|
|
|
NM_152594.3(SPRED1):c.1147T>C (p.Ser383Pro)
|
|
|
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs)
|
rs1595763925
|
|
NM_152594.3(SPRED1):c.1151_1152del (p.Glu384fs)
|
rs878855228
|
|
NM_152594.3(SPRED1):c.1151del (p.Glu384fs)
|
rs1595763928
|
|
NM_152594.3(SPRED1):c.1158T>C (p.Asp386=)
|
rs2141016567
|
|
NM_152594.3(SPRED1):c.115C>G (p.Leu39Val)
|
rs1555389691
|
|
NM_152594.3(SPRED1):c.1163C>T (p.Ser388Phe)
|
rs1888487548
|
|
NM_152594.3(SPRED1):c.1170C>G (p.Pro390=)
|
|
|
NM_152594.3(SPRED1):c.1170C>T (p.Pro390=)
|
|
|
NM_152594.3(SPRED1):c.1172G>C (p.Cys391Ser)
|
|
|
NM_152594.3(SPRED1):c.1175C>A (p.Ser392Ter)
|
rs1345810751
|
|
NM_152594.3(SPRED1):c.1175C>T (p.Ser392Leu)
|
rs1345810751
|
|
NM_152594.3(SPRED1):c.117A>G (p.Leu39=)
|
|
|
NM_152594.3(SPRED1):c.1185T>C (p.Thr395=)
|
|
|
NM_152594.3(SPRED1):c.1185T>G (p.Thr395=)
|
|
|
NM_152594.3(SPRED1):c.1188C>T (p.Ser396=)
|
|
|
NM_152594.3(SPRED1):c.1189G>A (p.Asp397Asn)
|
rs1888488545
|
|
NM_152594.3(SPRED1):c.118AGC[1] (p.Ser41del)
|
rs1895108139
|
|
NM_152594.3(SPRED1):c.1190A>G (p.Asp397Gly)
|
|
|
NM_152594.3(SPRED1):c.1194C>T (p.Asp398=)
|
rs2141016629
|
|
NM_152594.3(SPRED1):c.1196dup (p.Phe400fs)
|
rs1555392791
|
|
NM_152594.3(SPRED1):c.1199T>A (p.Phe400Tyr)
|
|
|
NM_152594.3(SPRED1):c.119G>C (p.Ser40Thr)
|
|
|
NM_152594.3(SPRED1):c.1200C>T (p.Phe400=)
|
rs2141016638
|
|
NM_152594.3(SPRED1):c.1203C>T (p.Cys401=)
|
|
|
NM_152594.3(SPRED1):c.1206G>A (p.Leu402=)
|
|
|
NM_152594.3(SPRED1):c.1207C>T (p.Arg403Ter)
|
|
|
NM_152594.3(SPRED1):c.1208G>A (p.Arg403Gln)
|
rs772476060
|
|
NM_152594.3(SPRED1):c.1211G>A (p.Trp404Ter)
|
|
|
NM_152594.3(SPRED1):c.1215A>G (p.Leu405=)
|
rs1595764001
|
|
NM_152594.3(SPRED1):c.1224A>G (p.Val408=)
|
rs1888489718
|
|
NM_152594.3(SPRED1):c.1224del (p.Ala409fs)
|
|
|
NM_152594.3(SPRED1):c.1225G>A (p.Ala409Thr)
|
|
|
NM_152594.3(SPRED1):c.1225_1226delinsTT (p.Ala409Phe)
|
|
|
NM_152594.3(SPRED1):c.1232C>T (p.Ser411Phe)
|
|
|
NM_152594.3(SPRED1):c.1232_1241del (p.Ser411fs)
|
rs2141016685
|
|
NM_152594.3(SPRED1):c.1235dup (p.Ile413fs)
|
|
|
NM_152594.3(SPRED1):c.1237_1238del (p.Ile413fs)
|
rs2141016692
|
|
NM_152594.3(SPRED1):c.1245A>G (p.Pro415=)
|
|
|
NM_152594.3(SPRED1):c.1246T>C (p.Cys416Arg)
|
rs1888490204
|
|
NM_152594.3(SPRED1):c.1246T>G (p.Cys416Gly)
|
|
|
NM_152594.3(SPRED1):c.1254C>T (p.Cys418=)
|
rs2141016717
|
|
NM_152594.3(SPRED1):c.1271_1272del (p.Arg424fs)
|
|
|
NM_152594.3(SPRED1):c.1273del (p.Met425fs)
|
rs2141016737
|
|
NM_152594.3(SPRED1):c.1275G>A (p.Met425Ile)
|
|
|
NM_152594.3(SPRED1):c.1280A>G (p.His427Arg)
|
rs1888490898
|
|
NM_152594.3(SPRED1):c.1296A>G (p.Ala432=)
|
rs2141016767
|
|
NM_152594.3(SPRED1):c.1300G>T (p.Gly434Cys)
|
|
|
NM_152594.3(SPRED1):c.1307G>C (p.Cys436Ser)
|
|
|
NM_152594.3(SPRED1):c.1317A>G (p.Lys439=)
|
|
|
NM_152594.3(SPRED1):c.131T>A (p.Val44Asp)
|
rs121434318
|
|
NM_152594.3(SPRED1):c.1320_1321del (p.His440fs)
|
rs759838497
|
|
NM_152594.3(SPRED1):c.1327G>C (p.Ala443Pro)
|
|
|
NM_152594.3(SPRED1):c.1329T>A (p.Ala443=)
|
|
|
NM_152594.3(SPRED1):c.135C>G (p.Phe45Leu)
|
rs1595733562
|
|
NM_152594.3(SPRED1):c.137A>G (p.Lys46Arg)
|
|
|
NM_152594.3(SPRED1):c.148C>T (p.Gln50Ter)
|
rs148646547
|
|
NM_152594.3(SPRED1):c.154G>A (p.Glu52Lys)
|
rs2140978504
|
|
NM_152594.3(SPRED1):c.156G>C (p.Glu52Asp)
|
|
|
NM_152594.3(SPRED1):c.159T>C (p.Asn53=)
|
|
|
NM_152594.3(SPRED1):c.160G>T (p.Gly54Cys)
|
|
|
NM_152594.3(SPRED1):c.161G>C (p.Gly54Ala)
|
|
|
NM_152594.3(SPRED1):c.161G>T (p.Gly54Val)
|
rs1895110134
|
|
NM_152594.3(SPRED1):c.164G>A (p.Cys55Tyr)
|
|
|
NM_152594.3(SPRED1):c.174T>C (p.Phe58=)
|
rs1595733589
|
|
NM_152594.3(SPRED1):c.177del (p.Phe59fs)
|
|
|
NM_152594.3(SPRED1):c.177dup (p.Ile60fs)
|
rs1895110802
|
|
NM_152594.3(SPRED1):c.178A>G (p.Ile60Val)
|
rs761830220
|
|
NM_152594.3(SPRED1):c.17C>G (p.Ala6Gly)
|
rs1490356893
|
|
NM_152594.3(SPRED1):c.182G>T (p.Arg61Leu)
|
rs750686148
|
|
NM_152594.3(SPRED1):c.189G>T (p.Glu63Asp)
|
rs2140978555
|
|
NM_152594.3(SPRED1):c.190C>T (p.Arg64Ter)
|
rs121434315
|
|
NM_152594.3(SPRED1):c.197G>C (p.Arg66Thr)
|
rs1895112263
|
|
NM_152594.3(SPRED1):c.1A>G (p.Met1Val)
|
rs1894017295
|
|
NM_152594.3(SPRED1):c.1_2del (p.Met1fs)
|
rs1555386649
|
|
NM_152594.3(SPRED1):c.207+10A>G
|
rs918390069
|
|
NM_152594.3(SPRED1):c.207+12T>C
|
|
|
NM_152594.3(SPRED1):c.207+16T>G
|
rs1322998447
|
|
NM_152594.3(SPRED1):c.207+1G>A
|
rs1595733611
|
|
NM_152594.3(SPRED1):c.207+1G>T
|
rs1595733611
|
|
NM_152594.3(SPRED1):c.207+37A>G
|
rs2272105
|
|
NM_152594.3(SPRED1):c.207G>A (p.Met69Ile)
|
|
|
NM_152594.3(SPRED1):c.208-10C>G
|
rs1353650192
|
|
NM_152594.3(SPRED1):c.208-11G>A
|
|
|
NM_152594.3(SPRED1):c.208-12G>A
|
|
|
NM_152594.3(SPRED1):c.208-12G>C
|
|
|
NM_152594.3(SPRED1):c.20C>T (p.Thr7Ile)
|
|
|
NM_152594.3(SPRED1):c.21T>A (p.Thr7=)
|
|
|
NM_152594.3(SPRED1):c.221G>T (p.Cys74Phe)
|
rs1412213561
|
|
NM_152594.3(SPRED1):c.228T>A (p.Leu76=)
|
rs763749955
|
|
NM_152594.3(SPRED1):c.229A>T (p.Lys77Ter)
|
rs727504170
|
|
NM_152594.3(SPRED1):c.232A>G (p.Lys78Glu)
|
rs2140994773
|
|
NM_152594.3(SPRED1):c.234dup (p.Asp79fs)
|
rs1566867209
|
|
NM_152594.3(SPRED1):c.235G>T (p.Asp79Tyr)
|
|
|
NM_152594.3(SPRED1):c.241A>G (p.Ile81Val)
|
|
|
NM_152594.3(SPRED1):c.24_25dup (p.Asp9fs)
|
rs2140943428
|
|
NM_152594.3(SPRED1):c.24del (p.Asp9fs)
|
rs1555386654
|
|
NM_152594.3(SPRED1):c.25G>A (p.Asp9Asn)
|
|
|
NM_152594.3(SPRED1):c.270C>G (p.His90Gln)
|
rs773943895
|
|
NM_152594.3(SPRED1):c.272del (p.His91fs)
|
|
|
NM_152594.3(SPRED1):c.274T>C (p.Trp92Arg)
|
rs1566867214
|
|
NM_152594.3(SPRED1):c.279G>A (p.Lys93=)
|
rs778384985
|
|
NM_152594.3(SPRED1):c.287A>C (p.Asp96Ala)
|
|
|
NM_152594.3(SPRED1):c.287A>G (p.Asp96Gly)
|
rs1555391039
|
|
NM_152594.3(SPRED1):c.288C>T (p.Asp96=)
|
|
|
NM_152594.3(SPRED1):c.28A>G (p.Asn10Asp)
|
|
|
NM_152594.3(SPRED1):c.290_291delinsGA (p.Lys97Arg)
|
rs1555391042
|
|
NM_152594.3(SPRED1):c.291del (p.Lys98fs)
|
|
|
NM_152594.3(SPRED1):c.299G>A (p.Gly100Asp)
|
rs1555391048
|
|
NM_152594.3(SPRED1):c.299G>T (p.Gly100Val)
|
rs1555391048
|
|
NM_152594.3(SPRED1):c.29A>G (p.Asn10Ser)
|
rs1894018444
|
|
NM_152594.3(SPRED1):c.300T>C (p.Gly100=)
|
|
|
NM_152594.3(SPRED1):c.301_307del (p.Leu101fs)
|
rs1566867246
|
|
NM_152594.3(SPRED1):c.302T>C (p.Leu101Pro)
|
rs1595746820
|
|
NM_152594.3(SPRED1):c.302T>G (p.Leu101Arg)
|
rs1595746820
|
|
NM_152594.3(SPRED1):c.305C>A (p.Thr102Lys)
|
rs754706111
|
|
NM_152594.3(SPRED1):c.305C>G (p.Thr102Arg)
|
rs754706111
|
|
NM_152594.3(SPRED1):c.305del (p.Thr102fs)
|
rs2140994872
|
|
NM_152594.3(SPRED1):c.306_307dup (p.Phe103fs)
|
rs1595746834
|
|
NM_152594.3(SPRED1):c.314G>T (p.Ser105Ile)
|
rs1895620929
|
|
NM_152594.3(SPRED1):c.315T>G (p.Ser105Arg)
|
rs1566867263
|
|
NM_152594.3(SPRED1):c.319G>A (p.Ala107Thr)
|
|
|
NM_152594.3(SPRED1):c.31G>A (p.Asp11Asn)
|
rs1445226319
|
|
NM_152594.3(SPRED1):c.32+12A>G
|
|
|
NM_152594.3(SPRED1):c.32+14T>C
|
rs2140943483
|
|
NM_152594.3(SPRED1):c.32+18C>G
|
|
|
NM_152594.3(SPRED1):c.32+18C>T
|
|
|
NM_152594.3(SPRED1):c.32+2T>G
|
rs2140943462
|
|
NM_152594.3(SPRED1):c.32+3A>T
|
rs1894018882
|
|
NM_152594.3(SPRED1):c.32+3_32+6dup
|
|
|
NM_152594.3(SPRED1):c.32+9C>T
|
|
|
NM_152594.3(SPRED1):c.326_329dup (p.Arg110delinsSerTer)
|
rs1595746858
|
|
NM_152594.3(SPRED1):c.328del (p.Arg110fs)
|
|
|
NM_152594.3(SPRED1):c.33-14T>C
|
|
|
NM_152594.3(SPRED1):c.342_343del (p.Gly115fs)
|
rs1555391061
|
|
NM_152594.3(SPRED1):c.342_349dup (p.Arg117fs)
|
|
|
NM_152594.3(SPRED1):c.349C>T (p.Arg117Ter)
|
rs121434312
|
|
NM_152594.3(SPRED1):c.350G>A (p.Arg117Gln)
|
|
|
NM_152594.3(SPRED1):c.353G>C (p.Arg118Thr)
|
rs373381933
|
|
NM_152594.3(SPRED1):c.355G>C (p.Ala119Pro)
|
rs2140994936
|
|
NM_152594.3(SPRED1):c.355dup (p.Ala119fs)
|
rs1895621783
|
|
NM_152594.3(SPRED1):c.363G>A (p.Glu121=)
|
|
|
NM_152594.3(SPRED1):c.376+10C>A
|
rs2140994968
|
|
NM_152594.3(SPRED1):c.376+17A>G
|
|
|
NM_152594.3(SPRED1):c.376+19T>G
|
|
|
NM_152594.3(SPRED1):c.376+1G>A
|
rs1184012360
|
|
NM_152594.3(SPRED1):c.376+1G>T
|
|
|
NM_152594.3(SPRED1):c.376+3A>G
|
|
|
NM_152594.3(SPRED1):c.376+4G>A
|
|
|
NM_152594.3(SPRED1):c.376+4G>C
|
|
|
NM_152594.3(SPRED1):c.376+9T>G
|
rs1555391063
|
|
NM_152594.3(SPRED1):c.376G>C (p.Gly126Arg)
|
rs2140994953
|
|
NM_152594.3(SPRED1):c.377-12C>T
|
|
|
NM_152594.3(SPRED1):c.377-16T>G
|
|
|
NM_152594.3(SPRED1):c.382C>G (p.Pro128Ala)
|
rs1895677013
|
|
NM_152594.3(SPRED1):c.384dup (p.Glu129fs)
|
rs1566868022
|
|
NM_152594.3(SPRED1):c.385G>T (p.Glu129Ter)
|
rs764823722
|
|
NM_152594.3(SPRED1):c.386A>T (p.Glu129Val)
|
|
|
NM_152594.3(SPRED1):c.395A>G (p.Asn132Ser)
|
rs1595748117
|
|
NM_152594.3(SPRED1):c.395dup (p.Asn132fs)
|
rs1895677481
|
|
NM_152594.3(SPRED1):c.3G>A (p.Met1Ile)
|
rs1324903101
|
|
NM_152594.3(SPRED1):c.402T>C (p.Ala134=)
|
rs1341388240
|
|
NM_152594.3(SPRED1):c.403G>C (p.Glu135Gln)
|
rs1595748136
|
|
NM_152594.3(SPRED1):c.408G>T (p.Gly136=)
|
|
|
NM_152594.3(SPRED1):c.408_409dup (p.Ala137fs)
|
|
|
NM_152594.3(SPRED1):c.40del (p.Tyr14fs)
|
rs2140978331
|
|
NM_152594.3(SPRED1):c.410C>T (p.Ala137Val)
|
rs1355725873
|
|
NM_152594.3(SPRED1):c.421C>A (p.Gln141Lys)
|
rs1060502505
|
|
NM_152594.3(SPRED1):c.421C>T (p.Gln141Ter)
|
rs1060502505
|
|
NM_152594.3(SPRED1):c.423+10G>T
|
|
|
NM_152594.3(SPRED1):c.423+11G>A
|
|
|
NM_152594.3(SPRED1):c.423+17A>G
|
rs1263567092
|
|
NM_152594.3(SPRED1):c.423+19G>A
|
|
|
NM_152594.3(SPRED1):c.423+1G>A
|
rs1566868058
|
|
NM_152594.3(SPRED1):c.423+1del
|
|
|
NM_152594.3(SPRED1):c.423+20G>A
|
|
|
NM_152594.3(SPRED1):c.423+2T>C
|
rs1555391161
|
|
NM_152594.3(SPRED1):c.423+5G>A
|
rs1895679388
|
|
NM_152594.3(SPRED1):c.423+5_423+8del
|
rs1895679212
|
|
NM_152594.3(SPRED1):c.423+8A>G
|
rs2140996685
|
|
NM_152594.3(SPRED1):c.424-19T>C
|
|
|
NM_152594.3(SPRED1):c.424-19T>G
|
|
|
NM_152594.3(SPRED1):c.424-2A>T
|
|
|
NM_152594.3(SPRED1):c.424-4A>G
|
rs1057518328
|
|
NM_152594.3(SPRED1):c.424G>T (p.Ala142Ser)
|
|
|
NM_152594.3(SPRED1):c.427A>G (p.Asn143Asp)
|
|
|
NM_152594.3(SPRED1):c.42T>G (p.Tyr14Ter)
|
|
|
NM_152594.3(SPRED1):c.431A>G (p.Glu144Gly)
|
rs1895992409
|
|
NM_152594.3(SPRED1):c.435G>A (p.Glu145=)
|
|
|
NM_152594.3(SPRED1):c.440C>T (p.Ser147Phe)
|
|
|
NM_152594.3(SPRED1):c.444C>G (p.Ser148=)
|
|
|
NM_152594.3(SPRED1):c.445A>G (p.Ser149Gly)
|
rs2141007736
|
|
NM_152594.3(SPRED1):c.449C>A (p.Ser150Tyr)
|
|
|
NM_152594.3(SPRED1):c.449C>T (p.Ser150Phe)
|
rs1555392025
|
|
NM_152594.3(SPRED1):c.451C>G (p.Leu151Val)
|
rs750421037
|
|
NM_152594.3(SPRED1):c.455T>C (p.Val152Ala)
|
rs1895993159
|
|
NM_152594.3(SPRED1):c.459G>A (p.Lys153=)
|
rs1318587614
|
|
NM_152594.3(SPRED1):c.460G>T (p.Asp154Tyr)
|
rs1414327113
|
|
NM_152594.3(SPRED1):c.461del (p.Asp154fs)
|
|
|
NM_152594.3(SPRED1):c.462_464dup (p.His155dup)
|
rs1895993278
|
|
NM_152594.3(SPRED1):c.46C>G (p.Arg16Gly)
|
|
|
NM_152594.3(SPRED1):c.472C>T (p.Gln158Ter)
|
|
|
NM_152594.3(SPRED1):c.475del (p.Gln159fs)
|
rs2141007796
|
|
NM_152594.3(SPRED1):c.47G>A (p.Arg16Gln)
|
|
|
NM_152594.3(SPRED1):c.47G>T (p.Arg16Leu)
|
|
|
NM_152594.3(SPRED1):c.480G>C (p.Glu160Asp)
|
|
|
NM_152594.3(SPRED1):c.486T>G (p.Val162=)
|
rs2141007825
|
|
NM_152594.3(SPRED1):c.487G>T (p.Val163Phe)
|
rs1895993694
|
|
NM_152594.3(SPRED1):c.490_491dup (p.Ser165fs)
|
|
|
NM_152594.3(SPRED1):c.493A>G (p.Ser165Gly)
|
rs1456920197
|
|
NM_152594.3(SPRED1):c.498G>C (p.Glu166Asp)
|
|
|
NM_152594.3(SPRED1):c.49G>A (p.Val17Met)
|
rs1895106351
|
|
NM_152594.3(SPRED1):c.508A>G (p.Ser170Gly)
|
|
|
NM_152594.3(SPRED1):c.510C>T (p.Ser170=)
|
rs771673657
|
|
NM_152594.3(SPRED1):c.517A>G (p.Ile173Val)
|
rs1060502504
|
|
NM_152594.3(SPRED1):c.519A>G (p.Ile173Met)
|
|
|
NM_152594.3(SPRED1):c.51G>A (p.Val17=)
|
rs864622421
|
|
NM_152594.3(SPRED1):c.521G>T (p.Arg174Ile)
|
rs2141007899
|
|
NM_152594.3(SPRED1):c.521_522dup (p.Pro175fs)
|
|
|
NM_152594.3(SPRED1):c.526_528del (p.Ser176del)
|
rs763365429
|
|
NM_152594.3(SPRED1):c.527C>T (p.Ser176Phe)
|
rs1895995078
|
|
NM_152594.3(SPRED1):c.52C>A (p.Arg18=)
|
|
|
NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter)
|
rs750777752
|
|
NM_152594.3(SPRED1):c.531C>G (p.Pro177=)
|
|
|
NM_152594.3(SPRED1):c.531C>T (p.Pro177=)
|
rs1595756882
|
|
NM_152594.3(SPRED1):c.535G>A (p.Glu179Lys)
|
|
|
NM_152594.3(SPRED1):c.538G>T (p.Asp180Tyr)
|
rs1375474473
|
|
NM_152594.3(SPRED1):c.53G>T (p.Arg18Leu)
|
|
|
NM_152594.3(SPRED1):c.546T>A (p.Asn182Lys)
|
|
|
NM_152594.3(SPRED1):c.546T>C (p.Asn182=)
|
|
|
NM_152594.3(SPRED1):c.547G>A (p.Ala183Thr)
|
|
|
NM_152594.3(SPRED1):c.548C>A (p.Ala183Asp)
|
|
|
NM_152594.3(SPRED1):c.548C>T (p.Ala183Val)
|
|
|
NM_152594.3(SPRED1):c.549C>T (p.Ala183=)
|
|
|
NM_152594.3(SPRED1):c.552A>G (p.Arg184=)
|
rs2141007956
|
|
NM_152594.3(SPRED1):c.553A>G (p.Arg185Gly)
|
|
|
NM_152594.3(SPRED1):c.556G>A (p.Val186Ile)
|
|
|
NM_152594.3(SPRED1):c.563T>C (p.Met188Thr)
|
|
|
NM_152594.3(SPRED1):c.564_565delinsAA (p.Met188_Gln189delinsIleLys)
|
|
|
NM_152594.3(SPRED1):c.565C>A (p.Gln189Lys)
|
rs200142785
|
|
NM_152594.3(SPRED1):c.565C>T (p.Gln189Ter)
|
|
|
NM_152594.3(SPRED1):c.567A>T (p.Gln189His)
|
|
|
NM_152594.3(SPRED1):c.56C>G (p.Ala19Gly)
|
rs968982670
|
|
NM_152594.3(SPRED1):c.570C>T (p.Ser190=)
|
|
|
NM_152594.3(SPRED1):c.574_582+14dup
|
|
|
NM_152594.3(SPRED1):c.576C>T (p.Ala192=)
|
|
|
NM_152594.3(SPRED1):c.582+17T>A
|
|
|
NM_152594.3(SPRED1):c.582+18T>C
|
|
|
NM_152594.3(SPRED1):c.582+1G>T
|
|
|
NM_152594.3(SPRED1):c.582+22del
|
|
|
NM_152594.3(SPRED1):c.582+4A>C
|
|
|
NM_152594.3(SPRED1):c.583-15T>C
|
|
|
NM_152594.3(SPRED1):c.583-18A>C
|
rs2141014785
|
|
NM_152594.3(SPRED1):c.583-8T>C
|
|
|
NM_152594.3(SPRED1):c.584T>A (p.Ile195Lys)
|
|
|
NM_152594.3(SPRED1):c.588A>T (p.Thr196=)
|
|
|
NM_152594.3(SPRED1):c.602G>T (p.Gly201Val)
|
|
|
NM_152594.3(SPRED1):c.605T>C (p.Leu202Ser)
|
rs1555392598
|
|
NM_152594.3(SPRED1):c.607G>A (p.Asp203Asn)
|
|
|
NM_152594.3(SPRED1):c.60G>A (p.Val20=)
|
|
|
NM_152594.3(SPRED1):c.611T>C (p.Ile204Thr)
|
|
|
NM_152594.3(SPRED1):c.613C>T (p.Gln205Ter)
|
rs2141014847
|
|
NM_152594.3(SPRED1):c.614A>G (p.Gln205Arg)
|
rs779879921
|
|
NM_152594.3(SPRED1):c.619A>C (p.Arg207=)
|
|
|
NM_152594.3(SPRED1):c.619A>T (p.Arg207Ter)
|
rs368660900
|
|
NM_152594.3(SPRED1):c.620G>C (p.Arg207Thr)
|
rs2141014869
|
|
NM_152594.3(SPRED1):c.630A>T (p.Glu210Asp)
|
rs2141014874
|
|
NM_152594.3(SPRED1):c.637C>T (p.Gln213Ter)
|
rs121434316
|
|
NM_152594.3(SPRED1):c.643C>T (p.Gln215Ter)
|
rs121434314
|
|
NM_152594.3(SPRED1):c.649T>G (p.Ser217Ala)
|
|
|
NM_152594.3(SPRED1):c.652A>G (p.Lys218Glu)
|
|
|
NM_152594.3(SPRED1):c.659G>A (p.Cys220Tyr)
|
rs1896209096
|
|
NM_152594.3(SPRED1):c.665G>A (p.Ser222Asn)
|
|
|
NM_152594.3(SPRED1):c.666C>A (p.Ser222Arg)
|
rs1896209442
|
|
NM_152594.3(SPRED1):c.668T>A (p.Leu223Gln)
|
|
|
NM_152594.3(SPRED1):c.669A>G (p.Leu223=)
|
rs774530752
|
|
NM_152594.3(SPRED1):c.676C>T (p.Gln226Ter)
|
rs1555392609
|
|
NM_152594.3(SPRED1):c.677A>C (p.Gln226Pro)
|
|
|
NM_152594.3(SPRED1):c.684+10G>A
|
rs1555392611
|
|
NM_152594.3(SPRED1):c.684+13A>G
|
|
|
NM_152594.3(SPRED1):c.684+1G>T
|
|
|
NM_152594.3(SPRED1):c.684+5G>A
|
rs985085386
|
|
NM_152594.3(SPRED1):c.685-13G>A
|
|
|
NM_152594.3(SPRED1):c.685-15_685-14del
|
rs566051898
|
|
NM_152594.3(SPRED1):c.685-17A>T
|
|
|
NM_152594.3(SPRED1):c.685-3_685-2insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTATCTGTTTCTTTTTT
|
|
|
NM_152594.3(SPRED1):c.685G>A (p.Val229Ile)
|
|
|
NM_152594.3(SPRED1):c.685G>T (p.Val229Phe)
|
rs201837340
|
|
NM_152594.3(SPRED1):c.687C>T (p.Val229=)
|
rs376226762
|
|
NM_152594.3(SPRED1):c.689C>G (p.Pro230Arg)
|
rs2141016004
|
|
NM_152594.3(SPRED1):c.692del (p.Pro230_Leu231insTer)
|
rs2141016007
|
|
NM_152594.3(SPRED1):c.696del (p.Lys232fs)
|
|
|
NM_152594.3(SPRED1):c.69C>T (p.Thr23=)
|
|
|
NM_152594.3(SPRED1):c.706C>T (p.His236Tyr)
|
|
|
NM_152594.3(SPRED1):c.719_725del (p.Gln240fs)
|
|
|
NM_152594.3(SPRED1):c.724G>T (p.Glu242Ter)
|
|
|
NM_152594.3(SPRED1):c.734T>C (p.Ile245Thr)
|
|
|
NM_152594.3(SPRED1):c.747C>G (p.Asn249Lys)
|
rs1888472576
|
|
NM_152594.3(SPRED1):c.74A>G (p.Asp25Gly)
|
rs1057524159
|
|
NM_152594.3(SPRED1):c.751C>A (p.Arg251=)
|
rs1172820756
|
|
NM_152594.3(SPRED1):c.753A>T (p.Arg251=)
|
|
|
NM_152594.3(SPRED1):c.758T>C (p.Ile253Thr)
|
|
|
NM_152594.3(SPRED1):c.758T>G (p.Ile253Ser)
|
|
|
NM_152594.3(SPRED1):c.766C>A (p.Arg256Ser)
|
rs1331443136
|
|
NM_152594.3(SPRED1):c.766C>T (p.Arg256Cys)
|
|
|
NM_152594.3(SPRED1):c.770G>A (p.Arg257His)
|
rs750832911
|
|
NM_152594.3(SPRED1):c.773A>G (p.Tyr258Cys)
|
rs2141016090
|
|
NM_152594.3(SPRED1):c.774T>G (p.Tyr258Ter)
|
rs1566876690
|
|
NM_152594.3(SPRED1):c.777A>T (p.Ala259=)
|
|
|
NM_152594.3(SPRED1):c.782A>G (p.Tyr261Cys)
|
|
|
NM_152594.3(SPRED1):c.783C>A (p.Tyr261Ter)
|
rs1888473716
|
|
NM_152594.3(SPRED1):c.784A>T (p.Arg262Ter)
|
rs121434317
|
|
NM_152594.3(SPRED1):c.794dup (p.Asp265fs)
|
rs2141016108
|
|
NM_152594.3(SPRED1):c.796A>T (p.Met266Leu)
|
rs1340143366
|
|
NM_152594.3(SPRED1):c.796_797del (p.Met266fs)
|
rs864622410
|
|
NM_152594.3(SPRED1):c.798G>A (p.Met266Ile)
|
|
|
NM_152594.3(SPRED1):c.7_20del (p.Glu3fs)
|
rs1555386651
|
|
NM_152594.3(SPRED1):c.800G>A (p.Trp267Ter)
|
rs1595763557
|
|
NM_152594.3(SPRED1):c.808G>T (p.Asp270Tyr)
|
|
|
NM_152594.3(SPRED1):c.82A>G (p.Ser28Gly)
|
rs2140978422
|
|
NM_152594.3(SPRED1):c.836G>A (p.Ser279Asn)
|
|
|
NM_152594.3(SPRED1):c.841C>T (p.Gln281Ter)
|
rs755557783
|
|
NM_152594.3(SPRED1):c.843G>A (p.Gln281=)
|
rs1373204659
|
|
NM_152594.3(SPRED1):c.852A>G (p.Lys284=)
|
|
|
NM_152594.3(SPRED1):c.856G>A (p.Asp286Asn)
|
rs2141016195
|
|
NM_152594.3(SPRED1):c.861T>C (p.Ser287=)
|
|
|
NM_152594.3(SPRED1):c.867A>T (p.Lys289Asn)
|
|
|
NM_152594.3(SPRED1):c.867dup (p.Ser290fs)
|
|
|
NM_152594.3(SPRED1):c.872A>T (p.Asp291Val)
|
|
|
NM_152594.3(SPRED1):c.877C>G (p.Leu293Val)
|
|
|
NM_152594.3(SPRED1):c.879G>C (p.Leu293=)
|
|
|
NM_152594.3(SPRED1):c.880_881dup (p.Ser295fs)
|
rs1555392750
|
|
NM_152594.3(SPRED1):c.881A>T (p.Tyr294Phe)
|
rs886051105
|
|
NM_152594.3(SPRED1):c.883T>C (p.Ser295Pro)
|
|
|
NM_152594.3(SPRED1):c.885T>C (p.Ser295=)
|
|
|
NM_152594.3(SPRED1):c.888T>C (p.Cys296=)
|
|
|
NM_152594.3(SPRED1):c.88G>A (p.Gly30Arg)
|
|
|
NM_152594.3(SPRED1):c.896A>C (p.Glu299Ala)
|
|
|
NM_152594.3(SPRED1):c.898A>G (p.Thr300Ala)
|
rs1888477050
|
|
NM_152594.3(SPRED1):c.89G>T (p.Gly30Val)
|
|
|
NM_152594.3(SPRED1):c.900dup (p.Lys301Ter)
|
rs1595763656
|
|
NM_152594.3(SPRED1):c.902A>C (p.Lys301Thr)
|
|
|
NM_152594.3(SPRED1):c.903_906del (p.Leu302fs)
|
rs1595763662
|
|
NM_152594.3(SPRED1):c.906_910del (p.Leu302fs)
|
rs1595763659
|
|
NM_152594.3(SPRED1):c.907A>C (p.Ser303Arg)
|
rs2141016279
|
|
NM_152594.3(SPRED1):c.908G>A (p.Ser303Asn)
|
|
|
NM_152594.3(SPRED1):c.90A>C (p.Gly30=)
|
|
|
NM_152594.3(SPRED1):c.912A>G (p.Ser304=)
|
rs2141016283
|
|
NM_152594.3(SPRED1):c.915C>G (p.Pro305=)
|
rs2141016292
|
|
NM_152594.3(SPRED1):c.916A>G (p.Lys306Glu)
|
rs1300035418
|
|
NM_152594.3(SPRED1):c.917A>G (p.Lys306Arg)
|
rs1888477642
|
|
NM_152594.3(SPRED1):c.922T>A (p.Ser308Thr)
|
rs765841849
|
|
NM_152594.3(SPRED1):c.923_924del (p.Ser308fs)
|
rs1555392759
|
|
NM_152594.3(SPRED1):c.931T>C (p.Phe311Leu)
|
rs375700452
|
|
NM_152594.3(SPRED1):c.932_933del (p.Val310_Phe311insTer)
|
|
|
NM_152594.3(SPRED1):c.939G>T (p.Thr313=)
|
rs140644874
|
|
NM_152594.3(SPRED1):c.943C>T (p.Pro315Ser)
|
|
|
NM_152594.3(SPRED1):c.948C>G (p.Ser316=)
|
rs1595763720
|
|
NM_152594.3(SPRED1):c.950C>G (p.Ser317Ter)
|
|
|
NM_152594.3(SPRED1):c.958A>G (p.Ile320Val)
|
|
|
NM_152594.3(SPRED1):c.958dup (p.Ile320fs)
|
|
|
NM_152594.3(SPRED1):c.962A>C (p.Lys321Thr)
|
|
|
NM_152594.3(SPRED1):c.962A>G (p.Lys321Arg)
|
|
|
NM_152594.3(SPRED1):c.963G>C (p.Lys321Asn)
|
|
|
NM_152594.3(SPRED1):c.967T>G (p.Ser323Ala)
|
|
|
NM_152594.3(SPRED1):c.96_97insT (p.Pro33fs)
|
|
|
NM_152594.3(SPRED1):c.973C>G (p.Arg325Gly)
|
rs1057518683
|
|
NM_152594.3(SPRED1):c.973C>T (p.Arg325Ter)
|
rs1057518683
|
|
NM_152594.3(SPRED1):c.974G>A (p.Arg325Gln)
|
rs1238094530
|
|
NM_152594.3(SPRED1):c.977G>C (p.Arg326Thr)
|
|
|
NM_152594.3(SPRED1):c.985G>T (p.Asp329Tyr)
|
rs756634323
|
|
NM_152594.3(SPRED1):c.989G>A (p.Gly330Asp)
|
rs1461391044
|
|
NM_152594.3(SPRED1):c.993A>G (p.Glu331=)
|
|
|
NM_152594.3(SPRED1):c.997T>G (p.Ser333Ala)
|
|
|
NM_152594.3(SPRED1):c.999T>C (p.Ser333=)
|
|
|
NM_152594.3(SPRED1):c.9G>A (p.Glu3=)
|
rs1429162267
|
|