NM_152594.3(SPRED1):c.926T>C (p.Val309Ala)
|
rs114636635
|
0.00204
|
NM_152594.3(SPRED1):c.*3745A>G
|
rs142928983
|
0.00080
|
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.*3192G>A
|
rs566065329
|
0.00064
|
NM_152594.3(SPRED1):c.-201G>A
|
rs770231868
|
0.00061
|
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.944C>T (p.Pro315Leu)
|
rs115440602
|
0.00029
|
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.*5540A>G
|
rs551994427
|
0.00020
|
NM_152594.3(SPRED1):c.*4304G>A
|
rs537477031
|
0.00017
|
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.*3289C>T
|
rs867439626
|
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.*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.*2117A>G
|
rs1037098024
|
0.00004
|
NM_152594.3(SPRED1):c.1295C>T (p.Ala432Val)
|
rs200871227
|
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.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.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.1282C>T (p.Arg428Cys)
|
rs941091989
|
0.00002
|
NM_152594.3(SPRED1):c.182G>A (p.Arg61His)
|
rs750686148
|
0.00002
|
NM_152594.3(SPRED1):c.610A>G (p.Ile204Val)
|
rs758087535
|
0.00002
|
NM_152594.3(SPRED1):c.875A>G (p.Tyr292Cys)
|
rs201933663
|
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.*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.1217C>T (p.Ala406Val)
|
rs748390368
|
0.00001
|
NM_152594.3(SPRED1):c.1238T>C (p.Ile413Thr)
|
rs1156410015
|
0.00001
|
NM_152594.3(SPRED1):c.1261G>A (p.Val421Ile)
|
rs752958999
|
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.170A>G (p.Asp57Gly)
|
rs959758606
|
0.00001
|
NM_152594.3(SPRED1):c.211G>A (p.Val71Ile)
|
rs369150309
|
0.00001
|
NM_152594.3(SPRED1):c.281T>C (p.Ile94Thr)
|
rs761473300
|
0.00001
|
NM_152594.3(SPRED1):c.305C>T (p.Thr102Met)
|
rs754706111
|
0.00001
|
NM_152594.3(SPRED1):c.32A>T (p.Asp11Val)
|
rs1452661347
|
0.00001
|
NM_152594.3(SPRED1):c.353G>A (p.Arg118Lys)
|
rs373381933
|
0.00001
|
NM_152594.3(SPRED1):c.406G>A (p.Gly136Arg)
|
rs1555391158
|
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.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.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.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.982G>A (p.Glu328Lys)
|
rs1352455265
|
0.00001
|
NM_152594.3(SPRED1):c.995G>A (p.Arg332His)
|
rs779966392
|
0.00001
|
NC_000015.9:g.(?_38545387)_(38591768_?)dup
|
|
|
NC_000015.9:g.(?_38545387)_(38617020_?)dup
|
|
|
NC_000015.9:g.(?_38591554)_(38643865_?)dup
|
|
|
NM_152594.3(SPRED1):c.*1095A>G
|
rs1888519746
|
|
NM_152594.3(SPRED1):c.*1400G>A
|
rs886051109
|
|
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.*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.*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.*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.*632C>T
|
rs1888507927
|
|
NM_152594.3(SPRED1):c.-114G>A
|
rs1489810093
|
|
NM_152594.3(SPRED1):c.-152C>A
|
rs886051102
|
|
NM_152594.3(SPRED1):c.-175G>T
|
rs1312214893
|
|
NM_152594.3(SPRED1):c.-294C>T
|
rs886051100
|
|
NM_152594.3(SPRED1):c.-87C>T
|
rs886051103
|
|
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.1044_1045delinsCC (p.Val348_Arg349=)
|
|
|
NM_152594.3(SPRED1):c.1044_1045delinsCT (p.Arg349Trp)
|
|
|
NM_152594.3(SPRED1):c.104G>A (p.Gly35Glu)
|
|
|
NM_152594.3(SPRED1):c.1067C>A (p.Pro356Gln)
|
|
|
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.1096G>A (p.Val366Ile)
|
|
|
NM_152594.3(SPRED1):c.1098T>G (p.Val366=)
|
rs1888486382
|
|
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.1119G>C (p.Glu373Asp)
|
|
|
NM_152594.3(SPRED1):c.1125G>A (p.Met375Ile)
|
|
|
NM_152594.3(SPRED1):c.1147T>C (p.Ser383Pro)
|
|
|
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.1172G>C (p.Cys391Ser)
|
|
|
NM_152594.3(SPRED1):c.1175C>T (p.Ser392Leu)
|
rs1345810751
|
|
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.1199T>A (p.Phe400Tyr)
|
|
|
NM_152594.3(SPRED1):c.119G>C (p.Ser40Thr)
|
|
|
NM_152594.3(SPRED1):c.1208G>A (p.Arg403Gln)
|
rs772476060
|
|
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.1246T>C (p.Cys416Arg)
|
rs1888490204
|
|
NM_152594.3(SPRED1):c.1246T>G (p.Cys416Gly)
|
|
|
NM_152594.3(SPRED1):c.1271_1272del (p.Arg424fs)
|
|
|
NM_152594.3(SPRED1):c.1275G>A (p.Met425Ile)
|
|
|
NM_152594.3(SPRED1):c.1280A>G (p.His427Arg)
|
rs1888490898
|
|
NM_152594.3(SPRED1):c.1300G>T (p.Gly434Cys)
|
|
|
NM_152594.3(SPRED1):c.1307G>C (p.Cys436Ser)
|
|
|
NM_152594.3(SPRED1):c.1320_1321del (p.His440fs)
|
rs759838497
|
|
NM_152594.3(SPRED1):c.1327G>C (p.Ala443Pro)
|
|
|
NM_152594.3(SPRED1):c.135C>G (p.Phe45Leu)
|
rs1595733562
|
|
NM_152594.3(SPRED1):c.137A>G (p.Lys46Arg)
|
|
|
NM_152594.3(SPRED1):c.154G>A (p.Glu52Lys)
|
rs2140978504
|
|
NM_152594.3(SPRED1):c.156G>C (p.Glu52Asp)
|
|
|
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.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.197G>C (p.Arg66Thr)
|
rs1895112263
|
|
NM_152594.3(SPRED1):c.207G>A (p.Met69Ile)
|
|
|
NM_152594.3(SPRED1):c.208-12G>A
|
|
|
NM_152594.3(SPRED1):c.20C>T (p.Thr7Ile)
|
|
|
NM_152594.3(SPRED1):c.221G>T (p.Cys74Phe)
|
rs1412213561
|
|
NM_152594.3(SPRED1):c.232A>G (p.Lys78Glu)
|
rs2140994773
|
|
NM_152594.3(SPRED1):c.235G>T (p.Asp79Tyr)
|
|
|
NM_152594.3(SPRED1):c.241A>G (p.Ile81Val)
|
|
|
NM_152594.3(SPRED1):c.25G>A (p.Asp9Asn)
|
|
|
NM_152594.3(SPRED1):c.270C>G (p.His90Gln)
|
rs773943895
|
|
NM_152594.3(SPRED1):c.274T>C (p.Trp92Arg)
|
rs1566867214
|
|
NM_152594.3(SPRED1):c.287A>C (p.Asp96Ala)
|
|
|
NM_152594.3(SPRED1):c.287A>G (p.Asp96Gly)
|
rs1555391039
|
|
NM_152594.3(SPRED1):c.28A>G (p.Asn10Asp)
|
|
|
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.302T>C (p.Leu101Pro)
|
rs1595746820
|
|
NM_152594.3(SPRED1):c.302T>G (p.Leu101Arg)
|
rs1595746820
|
|
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+3A>T
|
rs1894018882
|
|
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.376+3A>G
|
|
|
NM_152594.3(SPRED1):c.376+4G>A
|
|
|
NM_152594.3(SPRED1):c.376+4G>C
|
|
|
NM_152594.3(SPRED1):c.376G>C (p.Gly126Arg)
|
rs2140994953
|
|
NM_152594.3(SPRED1):c.382C>G (p.Pro128Ala)
|
rs1895677013
|
|
NM_152594.3(SPRED1):c.386A>T (p.Glu129Val)
|
|
|
NM_152594.3(SPRED1):c.395A>G (p.Asn132Ser)
|
rs1595748117
|
|
NM_152594.3(SPRED1):c.403G>C (p.Glu135Gln)
|
rs1595748136
|
|
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.423+5G>A
|
rs1895679388
|
|
NM_152594.3(SPRED1):c.423+5_423+8del
|
rs1895679212
|
|
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.431A>G (p.Glu144Gly)
|
rs1895992409
|
|
NM_152594.3(SPRED1):c.440C>T (p.Ser147Phe)
|
|
|
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.460G>T (p.Asp154Tyr)
|
rs1414327113
|
|
NM_152594.3(SPRED1):c.462_464dup (p.His155dup)
|
rs1895993278
|
|
NM_152594.3(SPRED1):c.46C>G (p.Arg16Gly)
|
|
|
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.487G>T (p.Val163Phe)
|
rs1895993694
|
|
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.517A>G (p.Ile173Val)
|
rs1060502504
|
|
NM_152594.3(SPRED1):c.519A>G (p.Ile173Met)
|
|
|
NM_152594.3(SPRED1):c.521G>T (p.Arg174Ile)
|
rs2141007899
|
|
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.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.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.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.567A>T (p.Gln189His)
|
|
|
NM_152594.3(SPRED1):c.56C>G (p.Ala19Gly)
|
rs968982670
|
|
NM_152594.3(SPRED1):c.574_582+14dup
|
|
|
NM_152594.3(SPRED1):c.582+4A>C
|
|
|
NM_152594.3(SPRED1):c.584T>A (p.Ile195Lys)
|
|
|
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.611T>C (p.Ile204Thr)
|
|
|
NM_152594.3(SPRED1):c.614A>G (p.Gln205Arg)
|
rs779879921
|
|
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.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.677A>C (p.Gln226Pro)
|
|
|
NM_152594.3(SPRED1):c.684+5G>A
|
rs985085386
|
|
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.689C>G (p.Pro230Arg)
|
rs2141016004
|
|
NM_152594.3(SPRED1):c.706C>T (p.His236Tyr)
|
|
|
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.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.782A>G (p.Tyr261Cys)
|
|
|
NM_152594.3(SPRED1):c.796A>T (p.Met266Leu)
|
rs1340143366
|
|
NM_152594.3(SPRED1):c.798G>A (p.Met266Ile)
|
|
|
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.856G>A (p.Asp286Asn)
|
rs2141016195
|
|
NM_152594.3(SPRED1):c.867A>T (p.Lys289Asn)
|
|
|
NM_152594.3(SPRED1):c.872A>T (p.Asp291Val)
|
|
|
NM_152594.3(SPRED1):c.877C>G (p.Leu293Val)
|
|
|
NM_152594.3(SPRED1):c.881A>T (p.Tyr294Phe)
|
rs886051105
|
|
NM_152594.3(SPRED1):c.883T>C (p.Ser295Pro)
|
|
|
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.902A>C (p.Lys301Thr)
|
|
|
NM_152594.3(SPRED1):c.907A>C (p.Ser303Arg)
|
rs2141016279
|
|
NM_152594.3(SPRED1):c.908G>A (p.Ser303Asn)
|
|
|
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.931T>C (p.Phe311Leu)
|
rs375700452
|
|
NM_152594.3(SPRED1):c.943C>T (p.Pro315Ser)
|
|
|
NM_152594.3(SPRED1):c.958A>G (p.Ile320Val)
|
|
|
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.973C>G (p.Arg325Gly)
|
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)
|
|
|