|
NM_005859.5(PURA):c.321C>T (p.Ala107=)
|
rs149139260
|
0.00187
|
|
NM_005859.5(PURA):c.40G>C (p.Ala14Pro)
|
rs1046152089
|
0.00024
|
|
NM_005859.5(PURA):c.618C>T (p.Ile206=)
|
rs372391881
|
0.00015
|
|
NM_005859.5(PURA):c.621C>T (p.Asp207=)
|
rs142688247
|
0.00014
|
|
NM_005859.5(PURA):c.123C>T (p.Gly41=)
|
rs1395188527
|
0.00012
|
|
NM_005859.5(PURA):c.240C>T (p.Asn80=)
|
rs367658456
|
0.00011
|
|
NM_005859.5(PURA):c.543C>T (p.Gly181=)
|
rs555886273
|
0.00010
|
|
NM_005859.5(PURA):c.146G>T (p.Gly49Val)
|
rs773489265
|
0.00006
|
|
NM_005859.5(PURA):c.141C>T (p.Gly47=)
|
rs769972776
|
0.00004
|
|
NM_005859.5(PURA):c.600C>T (p.Asp200=)
|
rs770487634
|
0.00004
|
|
NM_005859.5(PURA):c.696C>T (p.Phe232=)
|
rs773542859
|
0.00004
|
|
NM_005859.5(PURA):c.27G>A (p.Glu9=)
|
rs1481319515
|
0.00003
|
|
NM_005859.5(PURA):c.387G>A (p.Pro129=)
|
rs777864550
|
0.00003
|
|
NM_005859.5(PURA):c.390G>A (p.Pro130=)
|
rs771038985
|
0.00003
|
|
NM_005859.5(PURA):c.127A>G (p.Ser43Gly)
|
rs1335796595
|
0.00002
|
|
NM_005859.5(PURA):c.138C>T (p.Gly46=)
|
rs1453834303
|
0.00002
|
|
NM_005859.5(PURA):c.287A>G (p.Asn96Ser)
|
rs1260956851
|
0.00002
|
|
NM_005859.5(PURA):c.502C>T (p.Leu168=)
|
rs1305961737
|
0.00002
|
|
NM_005859.5(PURA):c.723C>T (p.Gly241=)
|
rs747372214
|
0.00002
|
|
NM_005859.5(PURA):c.110G>C (p.Gly37Ala)
|
rs1430796646
|
0.00001
|
|
NM_005859.5(PURA):c.155G>A (p.Gly52Glu)
|
rs763614822
|
0.00001
|
|
NM_005859.5(PURA):c.165G>A (p.Gln55=)
|
rs764979877
|
0.00001
|
|
NM_005859.5(PURA):c.186C>T (p.Ala62=)
|
rs963675770
|
0.00001
|
|
NM_005859.5(PURA):c.210C>T (p.Asn70=)
|
rs373688524
|
0.00001
|
|
NM_005859.5(PURA):c.270G>A (p.Glu90=)
|
rs774603280
|
0.00001
|
|
NM_005859.5(PURA):c.279G>A (p.Ala93=)
|
rs376139846
|
0.00001
|
|
NM_005859.5(PURA):c.315A>G (p.Ser105=)
|
rs766101072
|
0.00001
|
|
NM_005859.5(PURA):c.360C>T (p.His120=)
|
rs1346256251
|
0.00001
|
|
NM_005859.5(PURA):c.394C>G (p.Leu132Val)
|
rs746218892
|
0.00001
|
|
NM_005859.5(PURA):c.421C>A (p.Arg141=)
|
rs1413692088
|
0.00001
|
|
NM_005859.5(PURA):c.462G>A (p.Lys154=)
|
rs762590553
|
0.00001
|
|
NM_005859.5(PURA):c.477C>G (p.Leu159=)
|
rs1453429129
|
0.00001
|
|
NM_005859.5(PURA):c.480G>A (p.Lys160=)
|
rs759194196
|
0.00001
|
|
NM_005859.5(PURA):c.492C>T (p.Arg164=)
|
rs375962530
|
0.00001
|
|
NM_005859.5(PURA):c.525C>T (p.Asn175=)
|
rs757427646
|
0.00001
|
|
NM_005859.5(PURA):c.537C>T (p.Gly179=)
|
rs370545019
|
0.00001
|
|
NM_005859.5(PURA):c.549G>A (p.Thr183=)
|
rs769252578
|
0.00001
|
|
NM_005859.5(PURA):c.576G>T (p.Ala192=)
|
rs748792707
|
0.00001
|
|
NM_005859.5(PURA):c.582G>T (p.Gly194=)
|
rs886603107
|
0.00001
|
|
NM_005859.5(PURA):c.597T>C (p.Arg199=)
|
rs762183564
|
0.00001
|
|
NM_005859.5(PURA):c.627C>T (p.Tyr209=)
|
rs760506481
|
0.00001
|
|
NM_005859.5(PURA):c.63G>T (p.Leu21=)
|
rs935069923
|
0.00001
|
|
NM_005859.5(PURA):c.657C>T (p.Pro219=)
|
rs1182298839
|
0.00001
|
|
NM_005859.5(PURA):c.68A>G (p.His23Arg)
|
rs1319701255
|
0.00001
|
|
NM_005859.5(PURA):c.693C>T (p.Phe231=)
|
rs750557574
|
0.00001
|
|
NM_005859.5(PURA):c.741C>T (p.Ser247=)
|
rs748693062
|
0.00001
|
|
NM_005859.5(PURA):c.79G>C (p.Gly27Arg)
|
rs1470806491
|
0.00001
|
|
NM_005859.5(PURA):c.847G>C (p.Glu283Gln)
|
rs750482815
|
0.00001
|
|
NM_005859.5(PURA):c.919G>A (p.Ala307Thr)
|
rs751843411
|
0.00001
|
|
NM_005859.5(PURA):c.925G>C (p.Ala309Pro)
|
rs1273916819
|
0.00001
|
|
GRCh37/hg19 5q31.2-31.3(chr5:139493717-140517454)x1
|
|
|
|
NC_000005.10:g.(?_140114162)_(140115170_?)del
|
|
|
|
NC_000005.10:g.140113537_140114444delinsGAGGTGGG
|
|
|
|
NC_000005.9:g.(?_136633338)_(140998481_?)dup
|
|
|
|
NC_000005.9:g.(?_136957787)_(140078137_?)dup
|
|
|
|
NM_005859.5(PURA):c.-12_25del (p.Met1fs)
|
rs1763033823
|
|
|
NM_005859.5(PURA):c.100G>A (p.Gly34Ser)
|
rs1763036938
|
|
|
NM_005859.5(PURA):c.102T>C (p.Gly34=)
|
rs1446546980
|
|
|
NM_005859.5(PURA):c.102TGG[3] (p.Gly42_Ser43insGly)
|
|
|
|
NM_005859.5(PURA):c.102_113del (p.Gly39_Gly42del)
|
rs1053480508
|
|
|
NM_005859.5(PURA):c.102_119del (p.Gly37_Gly42del)
|
rs1184201512
|
|
|
NM_005859.5(PURA):c.102_119dup (p.Gly37_Gly42dup)
|
rs1184201512
|
|
|
NM_005859.5(PURA):c.102_125del (p.Gly35_Gly42del)
|
|
|
|
NM_005859.5(PURA):c.102_137dup (p.Gly49_Ala50insGlyGlyGlyGlyGlySerGlyGlyGlyGlyGlyGly)
|
|
|
|
NM_005859.5(PURA):c.105T>C (p.Gly35=)
|
rs1282359377
|
|
|
NM_005859.5(PURA):c.105_122dup (p.Gly42_Ser43insGlyGlyGlyGlyGlyGly)
|
|
|
|
NM_005859.5(PURA):c.105_131del (p.Gly41_Gly49del)
|
rs1433370088
|
|
|
NM_005859.5(PURA):c.108C>G (p.Gly36=)
|
rs1763037598
|
|
|
NM_005859.5(PURA):c.108_113del (p.Gly41_Gly42del)
|
|
|
|
NM_005859.5(PURA):c.109G>T (p.Gly37Cys)
|
rs1763037641
|
|
|
NM_005859.5(PURA):c.109_126dup (p.Gly42_Ser43insGlyGlyGlyGlyGlyGly)
|
|
|
|
NM_005859.5(PURA):c.10C>T (p.Arg4Ter)
|
rs1561792945
|
|
|
NM_005859.5(PURA):c.112G>A (p.Gly38Arg)
|
|
|
|
NM_005859.5(PURA):c.112_126dup (p.Gly38_Gly42dup)
|
rs1561793030
|
|
|
NM_005859.5(PURA):c.114_119del (p.Gly41_Gly42del)
|
rs2126748653
|
|
|
NM_005859.5(PURA):c.114_122del (p.Gly40_Gly42del)
|
rs761730239
|
|
|
NM_005859.5(PURA):c.114_122dup (p.Gly40_Gly42dup)
|
rs761730239
|
|
|
NM_005859.5(PURA):c.114_125del (p.Gly39_Gly42del)
|
|
|
|
NM_005859.5(PURA):c.114_134del (p.Ser43_Gly49del)
|
|
|
|
NM_005859.5(PURA):c.114_137del (p.Gly42_Gly49del)
|
rs751351711
|
|
|
NM_005859.5(PURA):c.114_140del (p.Gly41_Gly49del)
|
rs1271325628
|
|
|
NM_005859.5(PURA):c.114_140dup (p.Gly49_Ala50insGlyGlySerGlyGlyGlyGlyGlyGly)
|
|
|
|
NM_005859.5(PURA):c.115GGC[1] (p.Gly40_Gly42del)
|
|
|
|
NM_005859.5(PURA):c.115GGC[5] (p.Gly42_Ser43insGly)
|
|
|
|
NM_005859.5(PURA):c.116_148del (p.Gly39_Gly49del)
|
rs1763037560
|
|
|
NM_005859.5(PURA):c.116del (p.Gly39fs)
|
|
|
|
NM_005859.5(PURA):c.117C>T (p.Gly39=)
|
|
|
|
NM_005859.5(PURA):c.119del (p.Gly40fs)
|
rs1581036115
|
|
|
NM_005859.5(PURA):c.123_128dup (p.Ser43_Gly44dup)
|
rs1039658835
|
|
|
NM_005859.5(PURA):c.123_146del (p.Gly42_Gly49del)
|
rs750397204
|
|
|
NM_005859.5(PURA):c.124G>A (p.Gly42Ser)
|
|
|
|
NM_005859.5(PURA):c.126_146del (p.Ser43_Gly49del)
|
rs750397204
|
|
|
NM_005859.5(PURA):c.126_146dup (p.Ser43_Gly49dup)
|
rs750397204
|
|
|
NM_005859.5(PURA):c.127_138del (p.Ser43_Gly46del)
|
rs756194966
|
|
|
NM_005859.5(PURA):c.127_138dup (p.Ser43_Gly46dup)
|
rs756194966
|
|
|
NM_005859.5(PURA):c.127_141del (p.Ser43_Gly47del)
|
rs1412581529
|
|
|
NM_005859.5(PURA):c.127_141dup (p.Ser43_Gly47dup)
|
rs1412581529
|
|
|
NM_005859.5(PURA):c.127_144del (p.Ser43_Gly48del)
|
rs891979402
|
|
|
NM_005859.5(PURA):c.129T>C (p.Ser43=)
|
|
|
|
NM_005859.5(PURA):c.132CGG[2] (p.Gly47_Gly49del)
|
rs754074166
|
|
|
NM_005859.5(PURA):c.132CGG[3] (p.Gly48_Gly49del)
|
rs754074166
|
|
|
NM_005859.5(PURA):c.132CGG[4] (p.Gly49del)
|
rs754074166
|
|
|
NM_005859.5(PURA):c.132CGG[6] (p.Gly49dup)
|
rs754074166
|
|
|
NM_005859.5(PURA):c.132CGG[7] (p.Gly48_Gly49dup)
|
rs754074166
|
|
|
NM_005859.5(PURA):c.132CGG[8] (p.Gly49_Ala50insGlyGlyGly)
|
|
|
|
NM_005859.5(PURA):c.144del (p.Ala50fs)
|
rs1763039753
|
|
|
NM_005859.5(PURA):c.147G>C (p.Gly49=)
|
|
|
|
NM_005859.5(PURA):c.148del (p.Ala50fs)
|
rs1554129035
|
|
|
NM_005859.5(PURA):c.149_156dup (p.Gly53fs)
|
rs1581036164
|
|
|
NM_005859.5(PURA):c.155G>T (p.Gly52Val)
|
rs763614822
|
|
|
NM_005859.5(PURA):c.159del (p.Leu54fs)
|
|
|
|
NM_005859.5(PURA):c.159dup (p.Leu54fs)
|
rs1554129040
|
|
|
NM_005859.5(PURA):c.15del (p.Asp5fs)
|
rs2126748515
|
|
|
NM_005859.5(PURA):c.160C>T (p.Leu54=)
|
|
|
|
NM_005859.5(PURA):c.163C>T (p.Gln55Ter)
|
rs1085307472
|
|
|
NM_005859.5(PURA):c.168C>T (p.His56=)
|
|
|
|
NM_005859.5(PURA):c.169G>T (p.Glu57Ter)
|
rs2126748783
|
|
|
NM_005859.5(PURA):c.175C>T (p.Gln59Ter)
|
rs1561793115
|
|
|
NM_005859.5(PURA):c.178G>T (p.Glu60Ter)
|
rs1763041722
|
|
|
NM_005859.5(PURA):c.180G>A (p.Glu60=)
|
|
|
|
NM_005859.5(PURA):c.185C>T (p.Ala62Val)
|
rs2126748800
|
|
|
NM_005859.5(PURA):c.190A>T (p.Lys64Ter)
|
|
|
|
NM_005859.5(PURA):c.192G>A (p.Lys64=)
|
|
|
|
NM_005859.5(PURA):c.194G>T (p.Arg65Leu)
|
|
|
|
NM_005859.5(PURA):c.197T>A (p.Val66Glu)
|
|
|
|
NM_005859.5(PURA):c.1A>G (p.Met1Val)
|
rs793888530
|
|
|
NM_005859.5(PURA):c.1A>T (p.Met1Leu)
|
rs793888530
|
|
|
NM_005859.5(PURA):c.201C>T (p.Asp67=)
|
|
|
|
NM_005859.5(PURA):c.203_211del (p.Ile68_Asn70del)
|
|
|
|
NM_005859.5(PURA):c.205C>T (p.Gln69Ter)
|
rs1554129045
|
|
|
NM_005859.5(PURA):c.207G>A (p.Gln69=)
|
|
|
|
NM_005859.5(PURA):c.20del (p.Gly7fs)
|
|
|
|
NM_005859.5(PURA):c.215G>A (p.Arg72His)
|
rs2126748830
|
|
|
NM_005859.5(PURA):c.215G>C (p.Arg72Pro)
|
|
|
|
NM_005859.5(PURA):c.217T>G (p.Phe73Val)
|
|
|
|
NM_005859.5(PURA):c.224T>G (p.Leu75Arg)
|
rs1554129049
|
|
|
NM_005859.5(PURA):c.227A>C (p.Asp76Ala)
|
|
|
|
NM_005859.5(PURA):c.227A>T (p.Asp76Val)
|
|
|
|
NM_005859.5(PURA):c.228C>T (p.Asp76=)
|
rs1436569103
|
|
|
NM_005859.5(PURA):c.228del (p.Asp76fs)
|
|
|
|
NM_005859.5(PURA):c.231G>T (p.Val77=)
|
rs2126748841
|
|
|
NM_005859.5(PURA):c.232A>G (p.Lys78Glu)
|
|
|
|
NM_005859.5(PURA):c.234G>A (p.Lys78=)
|
|
|
|
NM_005859.5(PURA):c.235C>T (p.Gln79Ter)
|
rs2126748843
|
|
|
NM_005859.5(PURA):c.236A>C (p.Gln79Pro)
|
|
|
|
NM_005859.5(PURA):c.255C>T (p.Phe85=)
|
rs1763042675
|
|
|
NM_005859.5(PURA):c.259A>G (p.Lys87Glu)
|
|
|
|
NM_005859.5(PURA):c.25G>T (p.Glu9Ter)
|
|
|
|
NM_005859.5(PURA):c.265G>C (p.Ala89Pro)
|
rs587782999
|
|
|
NM_005859.5(PURA):c.267C>G (p.Ala89=)
|
rs149010278
|
|
|
NM_005859.5(PURA):c.267C>T (p.Ala89=)
|
rs149010278
|
|
|
NM_005859.5(PURA):c.267del (p.Glu90fs)
|
rs1064793665
|
|
|
NM_005859.5(PURA):c.268G>C (p.Glu90Gln)
|
rs1763043164
|
|
|
NM_005859.5(PURA):c.275G>C (p.Gly92Ala)
|
rs2126748878
|
|
|
NM_005859.5(PURA):c.276C>T (p.Gly92=)
|
|
|
|
NM_005859.5(PURA):c.278C>T (p.Ala93Val)
|
rs1203312453
|
|
|
NM_005859.5(PURA):c.282C>G (p.Gly94=)
|
|
|
|
NM_005859.5(PURA):c.289A>G (p.Lys97Glu)
|
rs587782994
|
|
|
NM_005859.5(PURA):c.297C>T (p.Arg99=)
|
|
|
|
NM_005859.5(PURA):c.298_315del (p.Leu100_Ser105del)
|
rs1763043820
|
|
|
NM_005859.5(PURA):c.299T>C (p.Leu100Pro)
|
rs587782995
|
|
|
NM_005859.5(PURA):c.29A>T (p.Gln10Leu)
|
|
|
|
NM_005859.5(PURA):c.2T>C (p.Met1Thr)
|
|
|
|
NM_005859.5(PURA):c.300T>G (p.Leu100=)
|
rs1581036279
|
|
|
NM_005859.5(PURA):c.302_310del (p.Thr101_Ser103del)
|
rs793888533
|
|
|
NM_005859.5(PURA):c.303T>G (p.Thr101=)
|
rs1581036288
|
|
|
NM_005859.5(PURA):c.305T>C (p.Leu102Pro)
|
rs793888531
|
|
|
NM_005859.5(PURA):c.306C>T (p.Leu102=)
|
rs762714935
|
|
|
NM_005859.5(PURA):c.307_308del (p.Ser103fs)
|
rs587782992
|
|
|
NM_005859.5(PURA):c.310dup (p.Met104fs)
|
rs2126748922
|
|
|
NM_005859.5(PURA):c.312del (p.Met104fs)
|
rs1581036297
|
|
|
NM_005859.5(PURA):c.321C>G (p.Ala107=)
|
rs149139260
|
|
|
NM_005859.5(PURA):c.331del (p.Arg111fs)
|
|
|
|
NM_005859.5(PURA):c.334G>C (p.Asp112His)
|
rs1763044679
|
|
|
NM_005859.5(PURA):c.339C>G (p.Tyr113Ter)
|
rs1581036318
|
|
|
NM_005859.5(PURA):c.348C>T (p.Asp116=)
|
|
|
|
NM_005859.5(PURA):c.34G>T (p.Gly12Cys)
|
rs2126748529
|
|
|
NM_005859.5(PURA):c.351C>T (p.Phe117=)
|
|
|
|
NM_005859.5(PURA):c.354C>A (p.Ile118=)
|
|
|
|
NM_005859.5(PURA):c.363C>T (p.Tyr121=)
|
|
|
|
NM_005859.5(PURA):c.366_367dup (p.Gln123fs)
|
rs1554129069
|
|
|
NM_005859.5(PURA):c.369G>A (p.Gln123=)
|
rs1331583399
|
|
|
NM_005859.5(PURA):c.375C>G (p.Gly125=)
|
rs1213597146
|
|
|
NM_005859.5(PURA):c.380dup (p.Ser127fs)
|
|
|
|
NM_005859.5(PURA):c.382dup (p.Gln128fs)
|
rs1561793211
|
|
|
NM_005859.5(PURA):c.383_386dup (p.Pro130fs)
|
rs2126748986
|
|
|
NM_005859.5(PURA):c.385C>T (p.Pro129Ser)
|
rs1763045680
|
|
|
NM_005859.5(PURA):c.387G>C (p.Pro129=)
|
rs777864550
|
|
|
NM_005859.5(PURA):c.387dup (p.Pro130fs)
|
rs2126749006
|
|
|
NM_005859.5(PURA):c.389del (p.Pro130fs)
|
rs2126749009
|
|
|
NM_005859.5(PURA):c.38C>T (p.Ala13Val)
|
|
|
|
NM_005859.5(PURA):c.390G>C (p.Pro130=)
|
rs771038985
|
|
|
NM_005859.5(PURA):c.399C>G (p.Ala133=)
|
rs1581036351
|
|
|
NM_005859.5(PURA):c.399C>T (p.Ala133=)
|
|
|
|
NM_005859.5(PURA):c.39G>A (p.Ala13=)
|
|
|
|
NM_005859.5(PURA):c.39G>C (p.Ala13=)
|
|
|
|
NM_005859.5(PURA):c.3G>A (p.Met1Ile)
|
|
|
|
NM_005859.5(PURA):c.406C>T (p.Gln136Ter)
|
rs2126749031
|
|
|
NM_005859.5(PURA):c.407_420dup (p.Ala142fs)
|
rs1561793219
|
|
|
NM_005859.5(PURA):c.419G>C (p.Arg140Pro)
|
rs793888536
|
|
|
NM_005859.5(PURA):c.420C>G (p.Arg140=)
|
|
|
|
NM_005859.5(PURA):c.423G>A (p.Arg141=)
|
rs1160252551
|
|
|
NM_005859.5(PURA):c.425C>A (p.Ala142Glu)
|
|
|
|
NM_005859.5(PURA):c.426G>A (p.Ala142=)
|
rs1581036389
|
|
|
NM_005859.5(PURA):c.426G>C (p.Ala142=)
|
|
|
|
NM_005859.5(PURA):c.426_427dup (p.Leu143fs)
|
rs2126749067
|
|
|
NM_005859.5(PURA):c.42G>A (p.Ala14=)
|
rs1350220385
|
|
|
NM_005859.5(PURA):c.430A>G (p.Lys144Glu)
|
rs1581036396
|
|
|
NM_005859.5(PURA):c.432A>G (p.Lys144=)
|
rs1554129086
|
|
|
NM_005859.5(PURA):c.433dup (p.Ser145fs)
|
|
|
|
NM_005859.5(PURA):c.435C>T (p.Ser145=)
|
|
|
|
NM_005859.5(PURA):c.436G>A (p.Glu146Lys)
|
rs1763047012
|
|
|
NM_005859.5(PURA):c.43C>A (p.Leu15Met)
|
rs923665124
|
|
|
NM_005859.5(PURA):c.43C>G (p.Leu15Val)
|
|
|
|
NM_005859.5(PURA):c.441C>T (p.Phe147=)
|
|
|
|
NM_005859.5(PURA):c.444G>A (p.Leu148=)
|
rs2126749091
|
|
|
NM_005859.5(PURA):c.449_456del (p.Arg150fs)
|
rs1581036405
|
|
|
NM_005859.5(PURA):c.450C>G (p.Arg150=)
|
rs201822080
|
|
|
NM_005859.5(PURA):c.450C>T (p.Arg150=)
|
rs201822080
|
|
|
NM_005859.5(PURA):c.456C>T (p.Asn152=)
|
|
|
|
NM_005859.5(PURA):c.458G>C (p.Arg153Pro)
|
rs886039610
|
|
|
NM_005859.5(PURA):c.459dup (p.Lys154fs)
|
rs1763047286
|
|
|
NM_005859.5(PURA):c.45_60dup (p.Leu21fs)
|
rs1581036015
|
|
|
NM_005859.5(PURA):c.461A>G (p.Lys154Arg)
|
|
|
|
NM_005859.5(PURA):c.465C>T (p.Tyr155=)
|
rs374074637
|
|
|
NM_005859.5(PURA):c.469A>G (p.Met157Val)
|
rs2126749113
|
|
|
NM_005859.5(PURA):c.478A>T (p.Lys160Ter)
|
|
|
|
NM_005859.5(PURA):c.478_480del (p.Lys160del)
|
rs1763048440
|
|
|
NM_005859.5(PURA):c.487C>T (p.Gln163Ter)
|
rs1554129091
|
|
|
NM_005859.5(PURA):c.493G>A (p.Gly165Ser)
|
rs1561793272
|
|
|
NM_005859.5(PURA):c.493G>T (p.Gly165Cys)
|
|
|
|
NM_005859.5(PURA):c.494_497dup (p.Phe167fs)
|
rs1561793268
|
|
|
NM_005859.5(PURA):c.495C>G (p.Gly165=)
|
rs1455936459
|
|
|
NM_005859.5(PURA):c.495C>T (p.Gly165=)
|
rs1455936459
|
|
|
NM_005859.5(PURA):c.496C>T (p.Arg166Cys)
|
rs1554129096
|
|
|
NM_005859.5(PURA):c.498C>G (p.Arg166=)
|
rs752590766
|
|
|
NM_005859.5(PURA):c.4_7dup (p.Asp3fs)
|
|
|
|
NM_005859.5(PURA):c.502dup (p.Leu168fs)
|
rs2126749156
|
|
|
NM_005859.5(PURA):c.503T>C (p.Leu168Pro)
|
rs1581036449
|
|
|
NM_005859.5(PURA):c.508A>T (p.Ile170Phe)
|
|
|
|
NM_005859.5(PURA):c.50C>A (p.Ser17Ter)
|
rs1346561117
|
|
|
NM_005859.5(PURA):c.50C>T (p.Ser17Leu)
|
|
|
|
NM_005859.5(PURA):c.50del (p.Ser17fs)
|
rs1554129008
|
|
|
NM_005859.5(PURA):c.511C>G (p.Arg171Gly)
|
rs1554129100
|
|
|
NM_005859.5(PURA):c.512G>C (p.Arg171Pro)
|
rs2126749179
|
|
|
NM_005859.5(PURA):c.513C>T (p.Arg171=)
|
|
|
|
NM_005859.5(PURA):c.516G>A (p.Gln172=)
|
|
|
|
NM_005859.5(PURA):c.517A>G (p.Thr173Ala)
|
rs1763049405
|
|
|
NM_005859.5(PURA):c.518C>A (p.Thr173Lys)
|
rs745982412
|
|
|
NM_005859.5(PURA):c.519G>C (p.Thr173=)
|
rs764069152
|
|
|
NM_005859.5(PURA):c.51G>A (p.Ser17=)
|
rs1345518698
|
|
|
NM_005859.5(PURA):c.51G>C (p.Ser17=)
|
rs1345518698
|
|
|
NM_005859.5(PURA):c.51G>T (p.Ser17=)
|
rs1345518698
|
|
|
NM_005859.5(PURA):c.524A>G (p.Asn175Ser)
|
|
|
|
NM_005859.5(PURA):c.528G>C (p.Arg176=)
|
rs778994348
|
|
|
NM_005859.5(PURA):c.530_531dup (p.Pro178fs)
|
rs2126749210
|
|
|
NM_005859.5(PURA):c.531G>C (p.Gly177=)
|
rs746119626
|
|
|
NM_005859.5(PURA):c.531del (p.Pro178fs)
|
rs2126749210
|
|
|
NM_005859.5(PURA):c.534T>G (p.Pro178=)
|
rs1176291675
|
|
|
NM_005859.5(PURA):c.534_556dup (p.Gln186fs)
|
rs1763049807
|
|
|
NM_005859.5(PURA):c.537C>G (p.Gly179=)
|
rs370545019
|
|
|
NM_005859.5(PURA):c.540_544dup (p.Ser182fs)
|
|
|
|
NM_005859.5(PURA):c.543C>A (p.Gly181=)
|
rs555886273
|
|
|
NM_005859.5(PURA):c.547A>G (p.Thr183Ala)
|
|
|
|
NM_005859.5(PURA):c.54C>T (p.Gly18=)
|
|
|
|
NM_005859.5(PURA):c.556C>T (p.Gln186Ter)
|
rs587782993
|
|
|
NM_005859.5(PURA):c.55G>A (p.Gly19Ser)
|
rs2126748559
|
|
|
NM_005859.5(PURA):c.563T>C (p.Ile188Thr)
|
rs793888527
|
|
|
NM_005859.5(PURA):c.563_578del (p.Ile188fs)
|
rs2126749241
|
|
|
NM_005859.5(PURA):c.564T>C (p.Ile188=)
|
rs1581036495
|
|
|
NM_005859.5(PURA):c.565G>C (p.Ala189Pro)
|
rs1581036496
|
|
|
NM_005859.5(PURA):c.573C>G (p.Pro191=)
|
rs925159576
|
|
|
NM_005859.5(PURA):c.577C>T (p.Gln193Ter)
|
|
|
|
NM_005859.5(PURA):c.582G>C (p.Gly194=)
|
rs886603107
|
|
|
NM_005859.5(PURA):c.585C>G (p.Leu195=)
|
rs1581036515
|
|
|
NM_005859.5(PURA):c.585C>T (p.Leu195=)
|
|
|
|
NM_005859.5(PURA):c.586_588del (p.Ile196del)
|
|
|
|
NM_005859.5(PURA):c.588C>T (p.Ile196=)
|
|
|
|
NM_005859.5(PURA):c.58T>C (p.Ser20Pro)
|
rs1763035593
|
|
|
NM_005859.5(PURA):c.595C>T (p.Arg199Cys)
|
rs1763051347
|
|
|
NM_005859.5(PURA):c.596G>C (p.Arg199Pro)
|
rs587783001
|
|
|
NM_005859.5(PURA):c.603T>C (p.Ala201=)
|
rs1276094504
|
|
|
NM_005859.5(PURA):c.603T>G (p.Ala201=)
|
rs1276094504
|
|
|
NM_005859.5(PURA):c.605T>C (p.Leu202Pro)
|
rs1561793336
|
|
|
NM_005859.5(PURA):c.614T>C (p.Leu205Pro)
|
rs1581036537
|
|
|
NM_005859.5(PURA):c.615C>T (p.Leu205=)
|
rs1581036542
|
|
|
NM_005859.5(PURA):c.616A>T (p.Ile206Phe)
|
rs786204834
|
|
|
NM_005859.5(PURA):c.619_625del (p.Asp207fs)
|
rs1561793344
|
|
|
NM_005859.5(PURA):c.61C>T (p.Leu21=)
|
|
|
|
NM_005859.5(PURA):c.626A>T (p.Tyr209Phe)
|
|
|
|
NM_005859.5(PURA):c.629del (p.Gly210fs)
|
rs2126749287
|
|
|
NM_005859.5(PURA):c.630A>C (p.Gly210=)
|
rs910622748
|
|
|
NM_005859.5(PURA):c.634G>C (p.Glu212Gln)
|
rs1561793355
|
|
|
NM_005859.5(PURA):c.638A>T (p.Glu213Val)
|
rs1763052435
|
|
|
NM_005859.5(PURA):c.640G>T (p.Glu214Ter)
|
rs1581036558
|
|
|
NM_005859.5(PURA):c.647_660del (p.Ala216fs)
|
rs2126749301
|
|
|
NM_005859.5(PURA):c.648C>T (p.Ala216=)
|
rs764016282
|
|
|
NM_005859.5(PURA):c.651G>T (p.Glu217Asp)
|
|
|
|
NM_005859.5(PURA):c.654G>T (p.Leu218=)
|
|
|
|
NM_005859.5(PURA):c.657del (p.Glu220fs)
|
|
|
|
NM_005859.5(PURA):c.65G>A (p.Gly22Glu)
|
rs2126748571
|
|
|
NM_005859.5(PURA):c.666C>T (p.Thr222=)
|
|
|
|
NM_005859.5(PURA):c.669C>T (p.Ser223=)
|
rs539704026
|
|
|
NM_005859.5(PURA):c.66G>C (p.Gly22=)
|
|
|
|
NM_005859.5(PURA):c.66del (p.His23fs)
|
rs1581036051
|
|
|
NM_005859.5(PURA):c.671del (p.Ser223_Leu224insTer)
|
|
|
|
NM_005859.5(PURA):c.672G>C (p.Leu224Phe)
|
rs1187486679
|
|
|
NM_005859.5(PURA):c.674C>T (p.Thr225Ile)
|
rs1763053031
|
|
|
NM_005859.5(PURA):c.677_678del (p.Val226fs)
|
rs1064796830
|
|
|
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del)
|
rs786204835
|
|
|
NM_005859.5(PURA):c.692T>G (p.Phe231Cys)
|
rs1554129113
|
|
|
NM_005859.5(PURA):c.6G>C (p.Ala2=)
|
|
|
|
NM_005859.5(PURA):c.702T>C (p.Asp234=)
|
rs1581036605
|
|
|
NM_005859.5(PURA):c.703del (p.Val235fs)
|
rs1763053563
|
|
|
NM_005859.5(PURA):c.70C>T (p.Pro24Ser)
|
rs1064795164
|
|
|
NM_005859.5(PURA):c.710C>T (p.Ser237Phe)
|
rs886039899
|
|
|
NM_005859.5(PURA):c.715A>T (p.Lys239Ter)
|
rs2126749353
|
|
|
NM_005859.5(PURA):c.720C>G (p.Tyr240Ter)
|
rs1763053854
|
|
|
NM_005859.5(PURA):c.720C>T (p.Tyr240=)
|
|
|
|
NM_005859.5(PURA):c.725dup (p.Phe243fs)
|
rs1554129114
|
|
|
NM_005859.5(PURA):c.726G>C (p.Val242=)
|
rs1581036621
|
|
|
NM_005859.5(PURA):c.726_727del (p.Phe243fs)
|
rs786204833
|
|
|
NM_005859.5(PURA):c.729T>C (p.Phe243=)
|
rs1292888333
|
|
|
NM_005859.5(PURA):c.72C>T (p.Pro24=)
|
|
|
|
NM_005859.5(PURA):c.734G>C (p.Arg245Pro)
|
rs1554129118
|
|
|
NM_005859.5(PURA):c.735A>G (p.Arg245=)
|
rs1581036630
|
|
|
NM_005859.5(PURA):c.73G>A (p.Gly25Ser)
|
rs1561792992
|
|
|
NM_005859.5(PURA):c.74del (p.Gly25fs)
|
rs2126748581
|
|
|
NM_005859.5(PURA):c.757T>G (p.Tyr253Asp)
|
|
|
|
NM_005859.5(PURA):c.759T>C (p.Tyr253=)
|
rs1581036642
|
|
|
NM_005859.5(PURA):c.762C>A (p.Arg254=)
|
|
|
|
NM_005859.5(PURA):c.763A>G (p.Asn255Asp)
|
|
|
|
NM_005859.5(PURA):c.769A>G (p.Ile257Val)
|
rs770307150
|
|
|
NM_005859.5(PURA):c.774C>A (p.Thr258=)
|
|
|
|
NM_005859.5(PURA):c.777G>A (p.Val259=)
|
rs146964273
|
|
|
NM_005859.5(PURA):c.777G>C (p.Val259=)
|
rs146964273
|
|
|
NM_005859.5(PURA):c.779C>G (p.Pro260Arg)
|
rs1064795567
|
|
|
NM_005859.5(PURA):c.779C>T (p.Pro260Leu)
|
rs1064795567
|
|
|
NM_005859.5(PURA):c.77C>A (p.Ser26Ter)
|
rs1763036339
|
|
|
NM_005859.5(PURA):c.77C>T (p.Ser26Leu)
|
rs1763036339
|
|
|
NM_005859.5(PURA):c.787_789del (p.Val263del)
|
rs1581036663
|
|
|
NM_005859.5(PURA):c.789G>A (p.Val263=)
|
|
|
|
NM_005859.5(PURA):c.789G>C (p.Val263=)
|
rs1581036664
|
|
|
NM_005859.5(PURA):c.78G>A (p.Ser26=)
|
|
|
|
NM_005859.5(PURA):c.78_83dup (p.26_27SG[4])
|
rs763926656
|
|
|
NM_005859.5(PURA):c.804A>C (p.Gly268=)
|
rs1581036671
|
|
|
NM_005859.5(PURA):c.804A>G (p.Gly268=)
|
rs1581036671
|
|
|
NM_005859.5(PURA):c.807C>T (p.His269=)
|
|
|
|
NM_005859.5(PURA):c.812_814del (p.Phe271del)
|
rs587782991
|
|
|
NM_005859.5(PURA):c.819G>A (p.Lys273=)
|
|
|
|
NM_005859.5(PURA):c.824C>A (p.Ser275Ter)
|
rs2126749442
|
|
|
NM_005859.5(PURA):c.82T>C (p.Ser28Pro)
|
rs1554129019
|
|
|
NM_005859.5(PURA):c.849G>C (p.Glu283Asp)
|
|
|
|
NM_005859.5(PURA):c.851A>C (p.Lys284Thr)
|
|
|
|
NM_005859.5(PURA):c.867G>C (p.Arg289=)
|
rs2126749465
|
|
|
NM_005859.5(PURA):c.869C>T (p.Ala290Val)
|
|
|
|
NM_005859.5(PURA):c.872C>T (p.Ala291Val)
|
|
|
|
NM_005859.5(PURA):c.875G>C (p.Cys292Ser)
|
|
|
|
NM_005859.5(PURA):c.884_892del (p.Leu295_Gln297del)
|
rs1763056656
|
|
|
NM_005859.5(PURA):c.888C>T (p.His296=)
|
|
|
|
NM_005859.5(PURA):c.88_93del (p.26SG[2])
|
rs1763036497
|
|
|
NM_005859.5(PURA):c.895dup (p.Gln299fs)
|
rs2126749469
|
|
|
NM_005859.5(PURA):c.897A>G (p.Gln299=)
|
rs1763056754
|
|
|
NM_005859.5(PURA):c.898CAG[5] (p.Gln303dup)
|
rs748424666
|
|
|
NM_005859.5(PURA):c.900G>A (p.Gln300=)
|
|
|
|
NM_005859.5(PURA):c.910GAG[1] (p.Glu305del)
|
|
|
|
NM_005859.5(PURA):c.918C>G (p.Thr306=)
|
rs887978824
|
|
|
NM_005859.5(PURA):c.918C>T (p.Thr306=)
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rs887978824
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NM_005859.5(PURA):c.91G>A (p.Gly31Ser)
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NM_005859.5(PURA):c.920C>T (p.Ala307Val)
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rs1554129135
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NM_005859.5(PURA):c.921C>T (p.Ala307=)
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NM_005859.5(PURA):c.922G>A (p.Ala308Thr)
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rs1286829864
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NM_005859.5(PURA):c.923C>T (p.Ala308Val)
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NM_005859.5(PURA):c.928dup (p.Thr310fs)
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NM_005859.5(PURA):c.941A>C (p.Gln314Pro)
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rs1763059029
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NM_005859.5(PURA):c.948G>A (p.Glu316=)
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NM_005859.5(PURA):c.950A>T (p.Glu317Val)
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rs1581036746
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NM_005859.5(PURA):c.951A>C (p.Glu317Asp)
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NM_005859.5(PURA):c.956_964del (p.Gly319_Glu321del)
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rs2126749514
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NM_005859.5(PURA):c.957G>A (p.Gly319=)
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NM_005859.5(PURA):c.98dup (p.Gly34fs)
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NM_005859.5(PURA):c.99C>T (p.Gly33=)
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rs2126748624
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