NM_152594.3(SPRED1):c.*2420T>C
|
rs184024152
|
0.00718
|
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala)
|
rs114636635
|
0.00188
|
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.*4472C>A
|
rs541556786
|
0.00071
|
NM_152594.3(SPRED1):c.*4471C>A
|
rs574232846
|
0.00070
|
NM_152594.3(SPRED1):c.*3192G>A
|
rs566065329
|
0.00064
|
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.*105A>G
|
rs545295358
|
0.00022
|
NM_152594.3(SPRED1):c.*565A>C
|
rs866578422
|
0.00022
|
NM_152594.3(SPRED1):c.*5540A>G
|
rs551994427
|
0.00020
|
NM_152594.3(SPRED1):c.*3395G>A
|
rs140749542
|
0.00018
|
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.*3543C>T
|
rs1007271242
|
0.00015
|
NM_152594.3(SPRED1):c.*4822A>G
|
rs576136057
|
0.00015
|
NM_152594.3(SPRED1):c.938C>T (p.Thr313Met)
|
rs766814966
|
0.00013
|
NM_152594.3(SPRED1):c.*1747A>C
|
rs561525888
|
0.00012
|
NM_152594.3(SPRED1):c.*2359G>C
|
rs886051112
|
0.00011
|
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.*3289C>T
|
rs867439626
|
0.00010
|
NM_152594.3(SPRED1):c.*3657C>T
|
rs761527047
|
0.00010
|
NM_152594.3(SPRED1):c.*1563C>T
|
rs886051110
|
0.00009
|
NM_152594.3(SPRED1):c.1202G>T (p.Cys401Phe)
|
rs779058019
|
0.00008
|
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile)
|
rs147474792
|
0.00008
|
NM_152594.3(SPRED1):c.-24A>G
|
rs755230054
|
0.00007
|
NM_152594.3(SPRED1):c.*5418A>G
|
rs547680341
|
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.*3340G>A
|
rs571542327
|
0.00005
|
NM_152594.3(SPRED1):c.*3584G>A
|
rs886051117
|
0.00005
|
NM_152594.3(SPRED1):c.1006G>A (p.Val336Ile)
|
rs373477920
|
0.00005
|
NM_152594.3(SPRED1):c.1105A>T (p.Met369Leu)
|
rs779660163
|
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.563T>C (p.Met188Thr)
|
rs370735097
|
0.00004
|
NM_152594.3(SPRED1):c.842A>G (p.Gln281Arg)
|
rs1427402192
|
0.00004
|
NM_152594.3(SPRED1):c.886T>C (p.Cys296Arg)
|
rs554327738
|
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.-12G>C
|
rs371200183
|
0.00003
|
NM_152594.3(SPRED1):c.-18G>T
|
rs755489788
|
0.00003
|
NM_152594.3(SPRED1):c.-2A>T
|
rs773950720
|
0.00003
|
NM_152594.3(SPRED1):c.1078A>G (p.Lys360Glu)
|
rs374685699
|
0.00003
|
NM_152594.3(SPRED1):c.1089A>G (p.Ile363Met)
|
rs140225135
|
0.00003
|
NM_152594.3(SPRED1):c.1304G>A (p.Cys435Tyr)
|
rs1442783307
|
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.424-5A>G
|
rs752656697
|
0.00003
|
NM_152594.3(SPRED1):c.42T>C (p.Tyr14=)
|
rs764234046
|
0.00003
|
NM_152594.3(SPRED1):c.665G>A (p.Ser222Asn)
|
rs1401084390
|
0.00003
|
NM_152594.3(SPRED1):c.836G>A (p.Ser279Asn)
|
rs904563789
|
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.887G>A (p.Cys296Tyr)
|
rs200974459
|
0.00003
|
NM_152594.3(SPRED1):c.*1337A>C
|
rs570038934
|
0.00002
|
NM_152594.3(SPRED1):c.*149G>A
|
rs776485386
|
0.00002
|
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.*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.181C>T (p.Arg61Cys)
|
rs765788978
|
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.685G>A (p.Val229Ile)
|
rs201837340
|
0.00002
|
NM_152594.3(SPRED1):c.875A>G (p.Tyr292Cys)
|
rs201933663
|
0.00002
|
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.*2539A>T
|
rs970641083
|
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.101T>C (p.Leu34Pro)
|
rs1282223944
|
0.00001
|
NM_152594.3(SPRED1):c.1025T>A (p.Phe342Tyr)
|
rs1888483954
|
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.1087A>G (p.Ile363Val)
|
rs764768156
|
0.00001
|
NM_152594.3(SPRED1):c.1119G>C (p.Glu373Asp)
|
rs1085307754
|
0.00001
|
NM_152594.3(SPRED1):c.1186A>G (p.Ser396Gly)
|
rs769959530
|
0.00001
|
NM_152594.3(SPRED1):c.119G>C (p.Ser40Thr)
|
rs781390048
|
0.00001
|
NM_152594.3(SPRED1):c.1208G>A (p.Arg403Gln)
|
rs772476060
|
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.1282C>T (p.Arg428Cys)
|
rs941091989
|
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.156G>C (p.Glu52Asp)
|
rs2542661117
|
0.00001
|
NM_152594.3(SPRED1):c.157A>G (p.Asn53Asp)
|
rs1261567261
|
0.00001
|
NM_152594.3(SPRED1):c.163T>C (p.Cys55Arg)
|
rs775334473
|
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.208-6T>C
|
rs1241478218
|
0.00001
|
NM_152594.3(SPRED1):c.211G>A (p.Val71Ile)
|
rs369150309
|
0.00001
|
NM_152594.3(SPRED1):c.236A>G (p.Asp79Gly)
|
rs2140994779
|
0.00001
|
NM_152594.3(SPRED1):c.281T>C (p.Ile94Thr)
|
rs761473300
|
0.00001
|
NM_152594.3(SPRED1):c.28A>G (p.Asn10Asp)
|
rs779189071
|
0.00001
|
NM_152594.3(SPRED1):c.305C>T (p.Thr102Met)
|
rs754706111
|
0.00001
|
NM_152594.3(SPRED1):c.31G>A (p.Asp11Asn)
|
rs1445226319
|
0.00001
|
NM_152594.3(SPRED1):c.32A>T (p.Asp11Val)
|
rs1452661347
|
0.00001
|
NM_152594.3(SPRED1):c.350G>A (p.Arg117Gln)
|
rs749378713
|
0.00001
|
NM_152594.3(SPRED1):c.353G>A (p.Arg118Lys)
|
rs373381933
|
0.00001
|
NM_152594.3(SPRED1):c.376+4G>A
|
rs1477635181
|
0.00001
|
NM_152594.3(SPRED1):c.386A>T (p.Glu129Val)
|
rs1230768530
|
0.00001
|
NM_152594.3(SPRED1):c.406G>A (p.Gly136Arg)
|
rs1555391158
|
0.00001
|
NM_152594.3(SPRED1):c.424G>T (p.Ala142Ser)
|
rs763971890
|
0.00001
|
NM_152594.3(SPRED1):c.455T>C (p.Val152Ala)
|
rs1895993159
|
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.511T>C (p.Ser171Pro)
|
rs376527959
|
0.00001
|
NM_152594.3(SPRED1):c.515A>C (p.Asn172Thr)
|
rs1462787485
|
0.00001
|
NM_152594.3(SPRED1):c.517A>G (p.Ile173Val)
|
rs1060502504
|
0.00001
|
NM_152594.3(SPRED1):c.519A>G (p.Ile173Met)
|
rs532147114
|
0.00001
|
NM_152594.3(SPRED1):c.527C>T (p.Ser176Phe)
|
rs1895995078
|
0.00001
|
NM_152594.3(SPRED1):c.535G>A (p.Glu179Lys)
|
rs143121426
|
0.00001
|
NM_152594.3(SPRED1):c.553A>G (p.Arg185Gly)
|
rs921335586
|
0.00001
|
NM_152594.3(SPRED1):c.564G>A (p.Met188Ile)
|
rs202092705
|
0.00001
|
NM_152594.3(SPRED1):c.56C>G (p.Ala19Gly)
|
rs968982670
|
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.607G>A (p.Asp203Asn)
|
rs139897054
|
0.00001
|
NM_152594.3(SPRED1):c.620G>C (p.Arg207Thr)
|
rs2141014869
|
0.00001
|
NM_152594.3(SPRED1):c.641G>A (p.Arg214Gln)
|
rs371274407
|
0.00001
|
NM_152594.3(SPRED1):c.668T>A (p.Leu223Gln)
|
rs990641041
|
0.00001
|
NM_152594.3(SPRED1):c.683G>A (p.Arg228Lys)
|
rs951963194
|
0.00001
|
NM_152594.3(SPRED1):c.684+50A>T
|
rs200338097
|
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.734T>C (p.Ile245Thr)
|
rs1888472357
|
0.00001
|
NM_152594.3(SPRED1):c.758T>C (p.Ile253Thr)
|
rs1187107780
|
0.00001
|
NM_152594.3(SPRED1):c.807T>G (p.Asn269Lys)
|
rs886041428
|
0.00001
|
NM_152594.3(SPRED1):c.808G>T (p.Asp270Tyr)
|
rs1287650497
|
0.00001
|
NM_152594.3(SPRED1):c.829G>A (p.Asp277Asn)
|
rs1043239392
|
0.00001
|
NM_152594.3(SPRED1):c.860G>A (p.Ser287Asn)
|
rs2542742811
|
0.00001
|
NM_152594.3(SPRED1):c.867A>T (p.Lys289Asn)
|
rs1317926847
|
0.00001
|
NM_152594.3(SPRED1):c.881A>T (p.Tyr294Phe)
|
rs886051105
|
0.00001
|
NM_152594.3(SPRED1):c.892G>C (p.Asp298His)
|
rs761001792
|
0.00001
|
NM_152594.3(SPRED1):c.913C>A (p.Pro305Thr)
|
rs1448326986
|
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.951A>T (p.Ser317=)
|
rs899712805
|
0.00001
|
NM_152594.3(SPRED1):c.974G>A (p.Arg325Gln)
|
rs1238094530
|
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
|
NM_152594.3(SPRED1):c.997T>G (p.Ser333Ala)
|
rs1222580149
|
0.00001
|
GRCh37/hg19 15q14(chr15:38533577-38587586)x3
|
|
|
GRCh37/hg19 15q14(chr15:38643945-38689620)x1
|
|
|
NC_000015.9:g.(?_38545387)_(38591768_?)dup
|
|
|
NC_000015.9:g.(?_38545387)_(38617020_?)dup
|
|
|
NC_000015.9:g.(?_38545387)_(38643865_?)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.*2422A>G
|
rs1888552362
|
|
NM_152594.3(SPRED1):c.*2506_*2513del
|
rs770258605
|
|
NM_152594.3(SPRED1):c.*2843A>C
|
rs886051115
|
|
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.-12G>T
|
rs371200183
|
|
NM_152594.3(SPRED1):c.-134C>T
|
rs2542593868
|
|
NM_152594.3(SPRED1):c.-22A>C
|
rs1057518143
|
|
NM_152594.3(SPRED1):c.-294C>T
|
rs886051100
|
|
NM_152594.3(SPRED1):c.-87C>T
|
rs886051103
|
|
NM_152594.3(SPRED1):c.1001G>C (p.Arg334Pro)
|
|
|
NM_152594.3(SPRED1):c.1006G>T (p.Val336Leu)
|
|
|
NM_152594.3(SPRED1):c.1015C>G (p.Gln339Glu)
|
|
|
NM_152594.3(SPRED1):c.1017G>T (p.Gln339His)
|
|
|
NM_152594.3(SPRED1):c.1021A>G (p.Arg341Gly)
|
|
|
NM_152594.3(SPRED1):c.1023G>C (p.Arg341Ser)
|
rs1405547941
|
|
NM_152594.3(SPRED1):c.1027A>G (p.Asn343Asp)
|
rs2542743557
|
|
NM_152594.3(SPRED1):c.1037A>G (p.Glu346Gly)
|
|
|
NM_152594.3(SPRED1):c.1044_1045delinsCC (p.Val348_Arg349=)
|
rs2542743687
|
|
NM_152594.3(SPRED1):c.1044_1045delinsCT (p.Arg349Trp)
|
rs2542743687
|
|
NM_152594.3(SPRED1):c.1045A>T (p.Arg349Trp)
|
rs774835982
|
|
NM_152594.3(SPRED1):c.1049G>C (p.Gly350Ala)
|
|
|
NM_152594.3(SPRED1):c.104G>A (p.Gly35Glu)
|
rs2542660935
|
|
NM_152594.3(SPRED1):c.1060G>C (p.Asp354His)
|
|
|
NM_152594.3(SPRED1):c.1067C>A (p.Pro356Gln)
|
rs2542743784
|
|
NM_152594.3(SPRED1):c.1076T>A (p.Ile359Asn)
|
rs763738243
|
|
NM_152594.3(SPRED1):c.1091A>G (p.Tyr364Cys)
|
|
|
NM_152594.3(SPRED1):c.1096G>A (p.Val366Ile)
|
rs372623722
|
|
NM_152594.3(SPRED1):c.1098T>G (p.Val366=)
|
rs1888486382
|
|
NM_152594.3(SPRED1):c.109A>G (p.Ser37Gly)
|
|
|
NM_152594.3(SPRED1):c.1103G>C (p.Cys368Ser)
|
rs2141016537
|
|
NM_152594.3(SPRED1):c.1104C>G (p.Cys368Trp)
|
|
|
NM_152594.3(SPRED1):c.1108C>T (p.Leu370Phe)
|
rs397517870
|
|
NM_152594.3(SPRED1):c.1109T>C (p.Leu370Pro)
|
rs2141016541
|
|
NM_152594.3(SPRED1):c.1112G>A (p.Cys371Tyr)
|
rs1178736205
|
|
NM_152594.3(SPRED1):c.1112G>C (p.Cys371Ser)
|
rs1178736205
|
|
NM_152594.3(SPRED1):c.1117G>C (p.Glu373Gln)
|
rs2542743989
|
|
NM_152594.3(SPRED1):c.1119G>T (p.Glu373Asp)
|
rs1085307754
|
|
NM_152594.3(SPRED1):c.1125G>A (p.Met375Ile)
|
rs1595763915
|
|
NM_152594.3(SPRED1):c.1144G>C (p.Asp382His)
|
|
|
NM_152594.3(SPRED1):c.1145A>T (p.Asp382Val)
|
rs2542744060
|
|
NM_152594.3(SPRED1):c.1147T>C (p.Ser383Pro)
|
rs755208632
|
|
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)
|
rs2542744118
|
|
NM_152594.3(SPRED1):c.1175C>T (p.Ser392Leu)
|
rs1345810751
|
|
NM_152594.3(SPRED1):c.1181A>G (p.Asp394Gly)
|
|
|
NM_152594.3(SPRED1):c.1183A>G (p.Thr395Ala)
|
|
|
NM_152594.3(SPRED1):c.1184C>T (p.Thr395Ile)
|
|
|
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)
|
rs2542744197
|
|
NM_152594.3(SPRED1):c.1192G>T (p.Asp398Tyr)
|
rs771480941
|
|
NM_152594.3(SPRED1):c.1199T>A (p.Phe400Tyr)
|
rs2542744247
|
|
NM_152594.3(SPRED1):c.1211G>A (p.Trp404Ter)
|
rs1888489281
|
|
NM_152594.3(SPRED1):c.1216G>A (p.Ala406Thr)
|
rs761520561
|
|
NM_152594.3(SPRED1):c.1225G>A (p.Ala409Thr)
|
rs762735151
|
|
NM_152594.3(SPRED1):c.1225_1226delinsTT (p.Ala409Phe)
|
rs1566877075
|
|
NM_152594.3(SPRED1):c.1229T>C (p.Leu410Ser)
|
|
|
NM_152594.3(SPRED1):c.122G>T (p.Ser41Ile)
|
|
|
NM_152594.3(SPRED1):c.1231T>C (p.Ser411Pro)
|
rs2542744373
|
|
NM_152594.3(SPRED1):c.1232C>G (p.Ser411Cys)
|
rs2542744378
|
|
NM_152594.3(SPRED1):c.1232C>T (p.Ser411Phe)
|
rs2542744378
|
|
NM_152594.3(SPRED1):c.1246T>C (p.Cys416Arg)
|
rs1888490204
|
|
NM_152594.3(SPRED1):c.1246T>G (p.Cys416Gly)
|
rs1888490204
|
|
NM_152594.3(SPRED1):c.1259A>G (p.Tyr420Cys)
|
|
|
NM_152594.3(SPRED1):c.125T>A (p.Val42Asp)
|
|
|
NM_152594.3(SPRED1):c.1271_1272del (p.Arg424fs)
|
rs2542744526
|
|
NM_152594.3(SPRED1):c.1274T>C (p.Met425Thr)
|
|
|
NM_152594.3(SPRED1):c.1275G>A (p.Met425Ile)
|
rs2542744547
|
|
NM_152594.3(SPRED1):c.1277G>C (p.Cys426Ser)
|
|
|
NM_152594.3(SPRED1):c.1279C>G (p.His427Asp)
|
|
|
NM_152594.3(SPRED1):c.1280A>G (p.His427Arg)
|
rs1888490898
|
|
NM_152594.3(SPRED1):c.1281_*4dup (p.His427_Ter445=)
|
rs1888490960
|
|
NM_152594.3(SPRED1):c.1292_1293dup (p.Ala432fs)
|
|
|
NM_152594.3(SPRED1):c.1300G>T (p.Gly434Cys)
|
rs2542744664
|
|
NM_152594.3(SPRED1):c.1304G>T (p.Cys435Phe)
|
|
|
NM_152594.3(SPRED1):c.1307G>C (p.Cys436Ser)
|
rs772421738
|
|
NM_152594.3(SPRED1):c.1313G>A (p.Gly438Glu)
|
|
|
NM_152594.3(SPRED1):c.1320_1321del (p.His440fs)
|
rs759838497
|
|
NM_152594.3(SPRED1):c.1327G>C (p.Ala443Pro)
|
rs2542744717
|
|
NM_152594.3(SPRED1):c.1330G>A (p.Gly444Arg)
|
rs2542744729
|
|
NM_152594.3(SPRED1):c.135C>G (p.Phe45Leu)
|
rs1595733562
|
|
NM_152594.3(SPRED1):c.137A>G (p.Lys46Arg)
|
rs2542661037
|
|
NM_152594.3(SPRED1):c.14C>G (p.Thr5Arg)
|
rs2140943407
|
|
NM_152594.3(SPRED1):c.151G>C (p.Glu51Gln)
|
|
|
NM_152594.3(SPRED1):c.154G>A (p.Glu52Lys)
|
rs2140978504
|
|
NM_152594.3(SPRED1):c.160G>A (p.Gly54Ser)
|
|
|
NM_152594.3(SPRED1):c.160G>T (p.Gly54Cys)
|
rs2542661130
|
|
NM_152594.3(SPRED1):c.161G>C (p.Gly54Ala)
|
rs1895110134
|
|
NM_152594.3(SPRED1):c.161G>T (p.Gly54Val)
|
rs1895110134
|
|
NM_152594.3(SPRED1):c.164G>A (p.Cys55Tyr)
|
rs2140978515
|
|
NM_152594.3(SPRED1):c.167C>T (p.Ala56Val)
|
|
|
NM_152594.3(SPRED1):c.175T>C (p.Phe59Leu)
|
|
|
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>C (p.Glu63Asp)
|
rs2140978555
|
|
NM_152594.3(SPRED1):c.189G>T (p.Glu63Asp)
|
rs2140978555
|
|
NM_152594.3(SPRED1):c.191G>A (p.Arg64Gln)
|
|
|
NM_152594.3(SPRED1):c.197G>A (p.Arg66Lys)
|
|
|
NM_152594.3(SPRED1):c.197G>C (p.Arg66Thr)
|
rs1895112263
|
|
NM_152594.3(SPRED1):c.205dup (p.Met69fs)
|
rs2542661271
|
|
NM_152594.3(SPRED1):c.207+2804T>G
|
|
|
NM_152594.3(SPRED1):c.207+3A>C
|
|
|
NM_152594.3(SPRED1):c.207+5T>C
|
|
|
NM_152594.3(SPRED1):c.207G>A (p.Met69Ile)
|
rs2542661278
|
|
NM_152594.3(SPRED1):c.208-12G>A
|
rs2542695352
|
|
NM_152594.3(SPRED1):c.20C>T (p.Thr7Ile)
|
rs1319028012
|
|
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.233A>G (p.Lys78Arg)
|
rs2542695495
|
|
NM_152594.3(SPRED1):c.235G>T (p.Asp79Tyr)
|
rs2542695503
|
|
NM_152594.3(SPRED1):c.238C>G (p.Leu80Val)
|
|
|
NM_152594.3(SPRED1):c.241A>G (p.Ile81Val)
|
rs2542695537
|
|
NM_152594.3(SPRED1):c.242T>C (p.Ile81Thr)
|
rs2542695547
|
|
NM_152594.3(SPRED1):c.247A>G (p.Asn83Asp)
|
|
|
NM_152594.3(SPRED1):c.250A>G (p.Lys84Glu)
|
rs2140994791
|
|
NM_152594.3(SPRED1):c.251A>G (p.Lys84Arg)
|
|
|
NM_152594.3(SPRED1):c.25G>A (p.Asp9Asn)
|
rs2542594496
|
|
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.282T>G (p.Ile94Met)
|
rs1160225934
|
|
NM_152594.3(SPRED1):c.287A>C (p.Asp96Ala)
|
rs1555391039
|
|
NM_152594.3(SPRED1):c.287A>G (p.Asp96Gly)
|
rs1555391039
|
|
NM_152594.3(SPRED1):c.28A>T (p.Asn10Tyr)
|
|
|
NM_152594.3(SPRED1):c.28_30del (p.Asn10del)
|
|
|
NM_152594.3(SPRED1):c.290_291delinsGA (p.Lys97Arg)
|
rs1555391042
|
|
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.311A>G (p.Gln104Arg)
|
rs748376033
|
|
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.317C>T (p.Pro106Leu)
|
rs2140994900
|
|
NM_152594.3(SPRED1):c.319G>A (p.Ala107Thr)
|
rs1166410178
|
|
NM_152594.3(SPRED1):c.32+20491C>T
|
|
|
NM_152594.3(SPRED1):c.32+3A>T
|
rs1894018882
|
|
NM_152594.3(SPRED1):c.32+6C>G
|
|
|
NM_152594.3(SPRED1):c.32+6C>T
|
|
|
NM_152594.3(SPRED1):c.339T>G (p.Asp113Glu)
|
|
|
NM_152594.3(SPRED1):c.353G>C (p.Arg118Thr)
|
rs373381933
|
|
NM_152594.3(SPRED1):c.354A>T (p.Arg118Ser)
|
rs2140994930
|
|
NM_152594.3(SPRED1):c.355G>C (p.Ala119Pro)
|
rs2140994936
|
|
NM_152594.3(SPRED1):c.359T>C (p.Ile120Thr)
|
rs1895621976
|
|
NM_152594.3(SPRED1):c.365A>T (p.Asp122Val)
|
rs2542695991
|
|
NM_152594.3(SPRED1):c.374A>G (p.Gln125Arg)
|
rs2542696023
|
|
NM_152594.3(SPRED1):c.376+15C>A
|
rs2542696071
|
|
NM_152594.3(SPRED1):c.376+3A>G
|
rs775985211
|
|
NM_152594.3(SPRED1):c.376+4G>C
|
rs1477635181
|
|
NM_152594.3(SPRED1):c.376G>C (p.Gly126Arg)
|
rs2140994953
|
|
NM_152594.3(SPRED1):c.379T>C (p.Cys127Arg)
|
|
|
NM_152594.3(SPRED1):c.382C>G (p.Pro128Ala)
|
rs1895677013
|
|
NM_152594.3(SPRED1):c.388T>C (p.Ser130Pro)
|
rs149883080
|
|
NM_152594.3(SPRED1):c.38G>A (p.Ser13Asn)
|
rs1057517922
|
|
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.409G>A (p.Ala137Thr)
|
|
|
NM_152594.3(SPRED1):c.410C>T (p.Ala137Val)
|
rs1355725873
|
|
NM_152594.3(SPRED1):c.412G>T (p.Asp138Tyr)
|
|
|
NM_152594.3(SPRED1):c.413A>G (p.Asp138Gly)
|
rs751138842
|
|
NM_152594.3(SPRED1):c.41A>G (p.Tyr14Cys)
|
|
|
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.424-6312C>G
|
|
|
NM_152594.3(SPRED1):c.427A>G (p.Asn143Asp)
|
rs2542723530
|
|
NM_152594.3(SPRED1):c.428A>G (p.Asn143Ser)
|
|
|
NM_152594.3(SPRED1):c.431A>G (p.Glu144Gly)
|
rs1895992409
|
|
NM_152594.3(SPRED1):c.43G>A (p.Ala15Thr)
|
rs753924528
|
|
NM_152594.3(SPRED1):c.440C>T (p.Ser147Phe)
|
rs2542723569
|
|
NM_152594.3(SPRED1):c.443C>A (p.Ser148Tyr)
|
|
|
NM_152594.3(SPRED1):c.445A>G (p.Ser149Gly)
|
rs2141007736
|
|
NM_152594.3(SPRED1):c.449C>A (p.Ser150Tyr)
|
rs1555392025
|
|
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.460G>T (p.Asp154Tyr)
|
rs1414327113
|
|
NM_152594.3(SPRED1):c.462_464dup (p.His155dup)
|
rs1895993278
|
|
NM_152594.3(SPRED1):c.46C>G (p.Arg16Gly)
|
rs1057517941
|
|
NM_152594.3(SPRED1):c.478G>A (p.Glu160Lys)
|
|
|
NM_152594.3(SPRED1):c.47G>A (p.Arg16Gln)
|
rs757726772
|
|
NM_152594.3(SPRED1):c.47G>T (p.Arg16Leu)
|
rs757726772
|
|
NM_152594.3(SPRED1):c.480G>C (p.Glu160Asp)
|
rs2542723705
|
|
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.495T>G (p.Ser165Arg)
|
|
|
NM_152594.3(SPRED1):c.498G>C (p.Glu166Asp)
|
rs770446191
|
|
NM_152594.3(SPRED1):c.49G>A (p.Val17Met)
|
rs1895106351
|
|
NM_152594.3(SPRED1):c.49G>C (p.Val17Leu)
|
rs1895106351
|
|
NM_152594.3(SPRED1):c.502T>G (p.Tyr168Asp)
|
rs1566872960
|
|
NM_152594.3(SPRED1):c.508A>G (p.Ser170Gly)
|
rs1895994444
|
|
NM_152594.3(SPRED1):c.50T>C (p.Val17Ala)
|
rs1421913267
|
|
NM_152594.3(SPRED1):c.521G>T (p.Arg174Ile)
|
rs2141007899
|
|
NM_152594.3(SPRED1):c.523C>A (p.Pro175Thr)
|
rs2542723860
|
|
NM_152594.3(SPRED1):c.526_528del (p.Ser176del)
|
rs763365429
|
|
NM_152594.3(SPRED1):c.530C>T (p.Pro177Leu)
|
|
|
NM_152594.3(SPRED1):c.538G>T (p.Asp180Tyr)
|
rs1375474473
|
|
NM_152594.3(SPRED1):c.539A>T (p.Asp180Val)
|
|
|
NM_152594.3(SPRED1):c.53G>A (p.Arg18Gln)
|
|
|
NM_152594.3(SPRED1):c.53G>T (p.Arg18Leu)
|
rs758855467
|
|
NM_152594.3(SPRED1):c.546T>A (p.Asn182Lys)
|
rs1419303814
|
|
NM_152594.3(SPRED1):c.547G>A (p.Ala183Thr)
|
rs1895995583
|
|
NM_152594.3(SPRED1):c.548C>A (p.Ala183Asp)
|
rs1345908231
|
|
NM_152594.3(SPRED1):c.548C>T (p.Ala183Val)
|
rs1345908231
|
|
NM_152594.3(SPRED1):c.556G>A (p.Val186Ile)
|
rs2542723979
|
|
NM_152594.3(SPRED1):c.557T>C (p.Val186Ala)
|
|
|
NM_152594.3(SPRED1):c.55G>A (p.Ala19Thr)
|
|
|
NM_152594.3(SPRED1):c.560A>G (p.Tyr187Cys)
|
|
|
NM_152594.3(SPRED1):c.563T>A (p.Met188Lys)
|
|
|
NM_152594.3(SPRED1):c.564_565delinsAA (p.Met188_Gln189delinsIleLys)
|
rs2542724014
|
|
NM_152594.3(SPRED1):c.565C>A (p.Gln189Lys)
|
rs200142785
|
|
NM_152594.3(SPRED1):c.567A>T (p.Gln189His)
|
rs764990934
|
|
NM_152594.3(SPRED1):c.573A>C (p.Gln191His)
|
|
|
NM_152594.3(SPRED1):c.574_582+14dup
|
rs2542724051
|
|
NM_152594.3(SPRED1):c.582+4A>C
|
rs2542724100
|
|
NM_152594.3(SPRED1):c.582G>T (p.Gln194His)
|
|
|
NM_152594.3(SPRED1):c.583-11_583-8del
|
rs2542739108
|
|
NM_152594.3(SPRED1):c.584T>A (p.Ile195Lys)
|
rs1166488554
|
|
NM_152594.3(SPRED1):c.584T>C (p.Ile195Thr)
|
|
|
NM_152594.3(SPRED1):c.591T>G (p.Phe197Leu)
|
|
|
NM_152594.3(SPRED1):c.592G>T (p.Gly198Cys)
|
rs1296168587
|
|
NM_152594.3(SPRED1):c.593G>C (p.Gly198Ala)
|
rs1186657394
|
|
NM_152594.3(SPRED1):c.599C>T (p.Pro200Leu)
|
rs778144652
|
|
NM_152594.3(SPRED1):c.602G>T (p.Gly201Val)
|
rs1896206860
|
|
NM_152594.3(SPRED1):c.605T>C (p.Leu202Ser)
|
rs1555392598
|
|
NM_152594.3(SPRED1):c.611T>C (p.Ile204Thr)
|
rs1227245527
|
|
NM_152594.3(SPRED1):c.614A>G (p.Gln205Arg)
|
rs779879921
|
|
NM_152594.3(SPRED1):c.618C>G (p.Ser206Arg)
|
|
|
NM_152594.3(SPRED1):c.626T>C (p.Met209Thr)
|
|
|
NM_152594.3(SPRED1):c.630A>T (p.Glu210Asp)
|
rs2141014874
|
|
NM_152594.3(SPRED1):c.631T>C (p.Tyr211His)
|
rs1896207918
|
|
NM_152594.3(SPRED1):c.649T>G (p.Ser217Ala)
|
rs2542739374
|
|
NM_152594.3(SPRED1):c.652A>G (p.Lys218Glu)
|
rs1446412856
|
|
NM_152594.3(SPRED1):c.658T>C (p.Cys220Arg)
|
|
|
NM_152594.3(SPRED1):c.659G>A (p.Cys220Tyr)
|
rs1896209096
|
|
NM_152594.3(SPRED1):c.659G>T (p.Cys220Phe)
|
|
|
NM_152594.3(SPRED1):c.660T>G (p.Cys220Trp)
|
|
|
NM_152594.3(SPRED1):c.666C>A (p.Ser222Arg)
|
rs1896209442
|
|
NM_152594.3(SPRED1):c.667C>G (p.Leu223Val)
|
|
|
NM_152594.3(SPRED1):c.66G>A (p.Met22Ile)
|
|
|
NM_152594.3(SPRED1):c.66G>T (p.Met22Ile)
|
rs1555389685
|
|
NM_152594.3(SPRED1):c.677A>C (p.Gln226Pro)
|
rs2542739466
|
|
NM_152594.3(SPRED1):c.684+3A>C
|
|
|
NM_152594.3(SPRED1):c.684+5G>A
|
rs985085386
|
|
NM_152594.3(SPRED1):c.684G>T (p.Arg228Ser)
|
rs1446813077
|
|
NM_152594.3(SPRED1):c.685-3_685-2insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTATCTGTTTCTTTTTT
|
rs2542742264
|
|
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.691T>G (p.Leu231Val)
|
|
|
NM_152594.3(SPRED1):c.6C>G (p.Ser2Arg)
|
|
|
NM_152594.3(SPRED1):c.706C>T (p.His236Tyr)
|
rs2542742399
|
|
NM_152594.3(SPRED1):c.713G>T (p.Ser238Ile)
|
|
|
NM_152594.3(SPRED1):c.714C>G (p.Ser238Arg)
|
|
|
NM_152594.3(SPRED1):c.71_72delinsTT (p.Arg24Leu)
|
rs2140978413
|
|
NM_152594.3(SPRED1):c.721G>C (p.Asp241His)
|
rs1888472164
|
|
NM_152594.3(SPRED1):c.722A>G (p.Asp241Gly)
|
rs2141016047
|
|
NM_152594.3(SPRED1):c.724G>A (p.Glu242Lys)
|
|
|
NM_152594.3(SPRED1):c.727G>A (p.Asp243Asn)
|
|
|
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>G (p.Ile253Ser)
|
rs1187107780
|
|
NM_152594.3(SPRED1):c.765A>G (p.Ile255Met)
|
|
|
NM_152594.3(SPRED1):c.766C>A (p.Arg256Ser)
|
rs1331443136
|
|
NM_152594.3(SPRED1):c.766C>T (p.Arg256Cys)
|
rs1331443136
|
|
NM_152594.3(SPRED1):c.769C>T (p.Arg257Cys)
|
|
|
NM_152594.3(SPRED1):c.770G>A (p.Arg257His)
|
rs750832911
|
|
NM_152594.3(SPRED1):c.770G>T (p.Arg257Leu)
|
rs750832911
|
|
NM_152594.3(SPRED1):c.773A>G (p.Tyr258Cys)
|
rs2141016090
|
|
NM_152594.3(SPRED1):c.782A>G (p.Tyr261Cys)
|
rs2542742581
|
|
NM_152594.3(SPRED1):c.788A>G (p.His263Arg)
|
rs2542742604
|
|
NM_152594.3(SPRED1):c.796A>T (p.Met266Leu)
|
rs1340143366
|
|
NM_152594.3(SPRED1):c.798G>A (p.Met266Ile)
|
rs2542742655
|
|
NM_152594.3(SPRED1):c.798G>C (p.Met266Ile)
|
|
|
NM_152594.3(SPRED1):c.814G>C (p.Glu272Gln)
|
|
|
NM_152594.3(SPRED1):c.820G>A (p.Asp274Asn)
|
|
|
NM_152594.3(SPRED1):c.823G>T (p.Asp275Tyr)
|
rs780737673
|
|
NM_152594.3(SPRED1):c.826G>A (p.Ala276Thr)
|
rs1270752951
|
|
NM_152594.3(SPRED1):c.827C>G (p.Ala276Gly)
|
|
|
NM_152594.3(SPRED1):c.82A>G (p.Ser28Gly)
|
rs2140978422
|
|
NM_152594.3(SPRED1):c.833C>G (p.Ser278Cys)
|
|
|
NM_152594.3(SPRED1):c.836_837delinsTA (p.Ser279Ile)
|
|
|
NM_152594.3(SPRED1):c.838A>G (p.Ile280Val)
|
|
|
NM_152594.3(SPRED1):c.853C>G (p.Pro285Ala)
|
|
|
NM_152594.3(SPRED1):c.854C>T (p.Pro285Leu)
|
rs759197561
|
|
NM_152594.3(SPRED1):c.856G>A (p.Asp286Asn)
|
rs2141016195
|
|
NM_152594.3(SPRED1):c.858C>G (p.Asp286Glu)
|
|
|
NM_152594.3(SPRED1):c.862A>G (p.Lys288Glu)
|
|
|
NM_152594.3(SPRED1):c.866A>T (p.Lys289Ile)
|
|
|
NM_152594.3(SPRED1):c.872A>T (p.Asp291Val)
|
rs2542742860
|
|
NM_152594.3(SPRED1):c.874T>C (p.Tyr292His)
|
|
|
NM_152594.3(SPRED1):c.877C>G (p.Leu293Val)
|
rs1888476201
|
|
NM_152594.3(SPRED1):c.883T>C (p.Ser295Pro)
|
rs2542742899
|
|
NM_152594.3(SPRED1):c.886T>A (p.Cys296Ser)
|
rs554327738
|
|
NM_152594.3(SPRED1):c.88G>A (p.Gly30Arg)
|
rs2542660889
|
|
NM_152594.3(SPRED1):c.893A>G (p.Asp298Gly)
|
rs2542742959
|
|
NM_152594.3(SPRED1):c.893A>T (p.Asp298Val)
|
|
|
NM_152594.3(SPRED1):c.895G>A (p.Glu299Lys)
|
|
|
NM_152594.3(SPRED1):c.896A>C (p.Glu299Ala)
|
rs2542742966
|
|
NM_152594.3(SPRED1):c.897G>T (p.Glu299Asp)
|
|
|
NM_152594.3(SPRED1):c.898A>G (p.Thr300Ala)
|
rs1888477050
|
|
NM_152594.3(SPRED1):c.89G>T (p.Gly30Val)
|
rs1317038482
|
|
NM_152594.3(SPRED1):c.8A>T (p.Glu3Val)
|
|
|
NM_152594.3(SPRED1):c.902A>C (p.Lys301Thr)
|
rs2542742994
|
|
NM_152594.3(SPRED1):c.906A>C (p.Leu302Phe)
|
|
|
NM_152594.3(SPRED1):c.907A>C (p.Ser303Arg)
|
rs2141016279
|
|
NM_152594.3(SPRED1):c.908G>A (p.Ser303Asn)
|
rs1261994638
|
|
NM_152594.3(SPRED1):c.914C>A (p.Pro305His)
|
|
|
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.91T>A (p.Trp31Arg)
|
|
|
NM_152594.3(SPRED1):c.922T>A (p.Ser308Thr)
|
rs765841849
|
|
NM_152594.3(SPRED1):c.92G>C (p.Trp31Ser)
|
|
|
NM_152594.3(SPRED1):c.931T>C (p.Phe311Leu)
|
rs375700452
|
|
NM_152594.3(SPRED1):c.941A>C (p.Gln314Pro)
|
|
|
NM_152594.3(SPRED1):c.943C>T (p.Pro315Ser)
|
rs2542743162
|
|
NM_152594.3(SPRED1):c.958A>G (p.Ile320Val)
|
rs2542743220
|
|
NM_152594.3(SPRED1):c.958A>T (p.Ile320Phe)
|
|
|
NM_152594.3(SPRED1):c.962A>C (p.Lys321Thr)
|
rs2542743236
|
|
NM_152594.3(SPRED1):c.962A>G (p.Lys321Arg)
|
rs2542743236
|
|
NM_152594.3(SPRED1):c.963G>C (p.Lys321Asn)
|
rs369711772
|
|
NM_152594.3(SPRED1):c.965A>C (p.Lys322Thr)
|
|
|
NM_152594.3(SPRED1):c.966G>T (p.Lys322Asn)
|
|
|
NM_152594.3(SPRED1):c.967T>G (p.Ser323Ala)
|
rs2542743286
|
|
NM_152594.3(SPRED1):c.973C>G (p.Arg325Gly)
|
rs1057518683
|
|
NM_152594.3(SPRED1):c.977G>C (p.Arg326Thr)
|
rs750890621
|
|
NM_152594.3(SPRED1):c.985G>A (p.Asp329Asn)
|
|
|
NM_152594.3(SPRED1):c.985G>T (p.Asp329Tyr)
|
rs756634323
|
|
NM_152594.3(SPRED1):c.986A>T (p.Asp329Val)
|
|
|
NM_152594.3(SPRED1):c.989G>A (p.Gly330Asp)
|
rs1461391044
|
|
NM_152594.3(SPRED1):c.98C>T (p.Pro33Leu)
|
|
|
NM_152594.3(SPRED1):c.993A>G (p.Glu331=)
|
rs2542743409
|
|
NM_152594.3(SPRED1):c.994C>T (p.Arg332Cys)
|
|
|