NM_018129.4(PNPO):c.*2008A>G
|
rs1986693
|
0.74708
|
NM_018129.4(PNPO):c.*904A>G
|
rs1962201
|
0.64931
|
NM_018129.4(PNPO):c.*512A>C
|
rs7220104
|
0.38852
|
NM_018129.4(PNPO):c.364-36C>T
|
rs2002136
|
0.35597
|
NM_018129.4(PNPO):c.*825C>A
|
rs2325749
|
0.27084
|
NM_018129.4(PNPO):c.165C>T (p.Ser55=)
|
rs11079804
|
0.14534
|
NM_018129.4(PNPO):c.*1883G>C
|
rs1986694
|
0.09285
|
NM_018129.4(PNPO):c.*352G>C
|
rs16949676
|
0.06547
|
NM_018129.4(PNPO):c.552G>A (p.Leu184=)
|
rs4378657
|
0.06317
|
NM_018129.4(PNPO):c.347G>A (p.Arg116Gln)
|
rs17679445
|
0.04944
|
NM_018129.4(PNPO):c.*106A>T
|
rs117508783
|
0.03135
|
NM_018129.4(PNPO):c.*1668G>A
|
rs7208554
|
0.02054
|
NM_018129.4(PNPO):c.486C>G (p.Pro162=)
|
rs35974730
|
0.02044
|
NM_018129.4(PNPO):c.546+15G>A
|
rs71377328
|
0.02044
|
NM_018129.4(PNPO):c.*611C>T
|
rs7219707
|
0.02041
|
NM_018129.4(PNPO):c.*1048C>T
|
rs114087393
|
0.01088
|
NM_018129.4(PNPO):c.*1580G>A
|
rs143175555
|
0.00856
|
NM_018129.4(PNPO):c.*1151C>T
|
rs145323612
|
0.00560
|
NM_018129.4(PNPO):c.*958G>T
|
rs189494213
|
0.00336
|
NM_018129.4(PNPO):c.*756T>C
|
rs566414102
|
0.00228
|
NM_018129.4(PNPO):c.*1393G>A
|
rs149121830
|
0.00226
|
NM_018129.4(PNPO):c.*272T>G
|
rs189065288
|
0.00150
|
NM_018129.4(PNPO):c.*2291G>A
|
rs76311835
|
0.00120
|
NM_018129.4(PNPO):c.*341T>C
|
rs78358763
|
0.00072
|
NM_018129.4(PNPO):c.*818C>T
|
rs769226094
|
0.00064
|
NM_018129.4(PNPO):c.167T>G (p.Leu56Arg)
|
rs145461623
|
0.00051
|
NM_018129.4(PNPO):c.723C>G (p.Ser241=)
|
rs144362146
|
0.00048
|
NM_018129.4(PNPO):c.698G>A (p.Arg233Gln)
|
rs144390543
|
0.00047
|
NM_018129.4(PNPO):c.*643C>T
|
rs200316134
|
0.00035
|
NM_018129.4(PNPO):c.*729T>G
|
rs181016187
|
0.00032
|
NM_018129.4(PNPO):c.542G>A (p.Arg181Gln)
|
rs377328326
|
0.00027
|
NM_018129.4(PNPO):c.*1757G>T
|
rs886053109
|
0.00026
|
NM_018129.4(PNPO):c.*895C>T
|
rs767554923
|
0.00017
|
NM_018129.4(PNPO):c.12G>T (p.Trp4Cys)
|
rs773614378
|
0.00016
|
NM_018129.4(PNPO):c.322C>T (p.Arg108Cys)
|
rs746311862
|
0.00013
|
NM_018129.4(PNPO):c.547-10C>T
|
rs572871752
|
0.00013
|
NM_018129.4(PNPO):c.628G>T (p.Val210Phe)
|
rs146339491
|
0.00013
|
NM_018129.4(PNPO):c.98A>T (p.Asp33Val)
|
rs370243877
|
0.00013
|
NM_018129.4(PNPO):c.*1842A>G
|
rs886053111
|
0.00011
|
NM_018129.4(PNPO):c.147G>A (p.Glu49=)
|
rs151112202
|
0.00009
|
NM_018129.4(PNPO):c.*2490C>T
|
rs556101569
|
0.00007
|
NM_018129.4(PNPO):c.433C>T (p.Pro145Ser)
|
rs551097300
|
0.00007
|
NM_018129.4(PNPO):c.540T>C (p.Asp180=)
|
rs200428415
|
0.00007
|
NM_018129.4(PNPO):c.701G>A (p.Arg234Gln)
|
rs1446089309
|
0.00007
|
NM_018129.4(PNPO):c.777T>C (p.Leu259=)
|
rs142461702
|
0.00007
|
NM_018129.4(PNPO):c.*200C>T
|
rs761169544
|
0.00006
|
NM_018129.4(PNPO):c.500T>C (p.Ile167Thr)
|
rs546737191
|
0.00006
|
NM_018129.4(PNPO):c.782C>T (p.Pro261Leu)
|
rs769125577
|
0.00006
|
NM_018129.4(PNPO):c.37G>T (p.Gly13Trp)
|
rs1025645549
|
0.00005
|
NM_018129.4(PNPO):c.413G>A (p.Arg138His)
|
rs764940495
|
0.00005
|
NM_018129.4(PNPO):c.546+14C>T
|
rs749039836
|
0.00005
|
NM_018129.4(PNPO):c.482G>A (p.Arg161His)
|
rs770981773
|
0.00004
|
NM_018129.4(PNPO):c.488A>G (p.Lys163Arg)
|
rs745757220
|
0.00004
|
NM_018129.4(PNPO):c.727T>C (p.Leu243=)
|
rs773871270
|
0.00004
|
NM_018129.4(PNPO):c.139-10C>T
|
rs1040105432
|
0.00003
|
NM_018129.4(PNPO):c.306C>T (p.Phe102=)
|
rs796052866
|
0.00003
|
NM_018129.4(PNPO):c.438G>A (p.Val146=)
|
rs766799976
|
0.00003
|
NM_018129.4(PNPO):c.541C>T (p.Arg181Trp)
|
rs878944960
|
0.00003
|
NM_018129.4(PNPO):c.657G>A (p.Trp219Ter)
|
rs776248931
|
0.00003
|
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln)
|
rs773450573
|
0.00003
|
NM_018129.4(PNPO):c.697C>T (p.Arg233Trp)
|
rs139643093
|
0.00003
|
NM_018129.4(PNPO):c.745C>T (p.Arg249Cys)
|
rs777671908
|
0.00003
|
NM_018129.4(PNPO):c.767A>G (p.Tyr256Cys)
|
rs148784343
|
0.00003
|
NM_018129.4(PNPO):c.*72C>T
|
rs535512907
|
0.00002
|
NM_018129.4(PNPO):c.139-4C>G
|
rs766668907
|
0.00002
|
NM_018129.4(PNPO):c.16C>A (p.Arg6=)
|
rs765997859
|
0.00002
|
NM_018129.4(PNPO):c.333T>C (p.Thr111=)
|
rs775797008
|
0.00002
|
NM_018129.4(PNPO):c.363+6T>C
|
rs753555879
|
0.00002
|
NM_018129.4(PNPO):c.364-1G>A
|
rs774710082
|
0.00002
|
NM_018129.4(PNPO):c.400G>C (p.Glu134Gln)
|
rs776343192
|
0.00002
|
NM_018129.4(PNPO):c.510G>A (p.Val170=)
|
rs766998961
|
0.00002
|
NM_018129.4(PNPO):c.527C>G (p.Ser176Cys)
|
rs142969923
|
0.00002
|
NM_018129.4(PNPO):c.547-17C>G
|
rs750566159
|
0.00002
|
NM_018129.4(PNPO):c.673C>T (p.Arg225Cys)
|
rs769266169
|
0.00002
|
NM_018129.4(PNPO):c.748G>A (p.Gly250Arg)
|
rs751372839
|
0.00002
|
NM_018129.4(PNPO):c.*1965C>T
|
rs1226237338
|
0.00001
|
NM_018129.4(PNPO):c.*2191A>G
|
rs1285020542
|
0.00001
|
NM_018129.4(PNPO):c.*945C>T
|
rs886053107
|
0.00001
|
NM_018129.4(PNPO):c.-18C>T
|
rs886053100
|
0.00001
|
NM_018129.4(PNPO):c.-23G>A
|
rs1445649991
|
0.00001
|
NM_018129.4(PNPO):c.138+9G>A
|
rs746859243
|
0.00001
|
NM_018129.4(PNPO):c.148G>A (p.Glu50Lys)
|
rs549477447
|
0.00001
|
NM_018129.4(PNPO):c.155A>C (p.His52Pro)
|
rs141119385
|
0.00001
|
NM_018129.4(PNPO):c.156T>C (p.His52=)
|
rs764734750
|
0.00001
|
NM_018129.4(PNPO):c.168T>G (p.Leu56=)
|
rs1060504669
|
0.00001
|
NM_018129.4(PNPO):c.178A>T (p.Lys60Ter)
|
rs751477334
|
0.00001
|
NM_018129.4(PNPO):c.205G>A (p.Ala69Thr)
|
rs1294398642
|
0.00001
|
NM_018129.4(PNPO):c.20G>A (p.Gly7Asp)
|
rs1426940419
|
0.00001
|
NM_018129.4(PNPO):c.217C>T (p.Pro73Ser)
|
rs781092815
|
0.00001
|
NM_018129.4(PNPO):c.263+1G>C
|
rs895303255
|
0.00001
|
NM_018129.4(PNPO):c.267T>C (p.Asp89=)
|
rs1266169742
|
0.00001
|
NM_018129.4(PNPO):c.282T>C (p.Ala94=)
|
rs1164370048
|
0.00001
|
NM_018129.4(PNPO):c.284G>A (p.Arg95His)
|
rs552833222
|
0.00001
|
NM_018129.4(PNPO):c.2T>C (p.Met1Thr)
|
rs796052870
|
0.00001
|
NM_018129.4(PNPO):c.307G>A (p.Gly103Arg)
|
rs781657980
|
0.00001
|
NM_018129.4(PNPO):c.336C>T (p.Asn112=)
|
rs558456822
|
0.00001
|
NM_018129.4(PNPO):c.340G>A (p.Glu114Lys)
|
rs796052868
|
0.00001
|
NM_018129.4(PNPO):c.342G>A (p.Glu114=)
|
rs1242820576
|
0.00001
|
NM_018129.4(PNPO):c.359A>C (p.Glu120Ala)
|
rs1245491170
|
0.00001
|
NM_018129.4(PNPO):c.393C>T (p.Phe131=)
|
rs1389481167
|
0.00001
|
NM_018129.4(PNPO):c.402G>A (p.Glu134=)
|
rs1220154531
|
0.00001
|
NM_018129.4(PNPO):c.417+17A>T
|
rs757917539
|
0.00001
|
NM_018129.4(PNPO):c.417+18G>T
|
rs763464383
|
0.00001
|
NM_018129.4(PNPO):c.417+6T>C
|
rs1022514263
|
0.00001
|
NM_018129.4(PNPO):c.418-9C>T
|
rs773201990
|
0.00001
|
NM_018129.4(PNPO):c.422G>A (p.Arg141His)
|
rs759335202
|
0.00001
|
NM_018129.4(PNPO):c.484C>T (p.Pro162Ser)
|
rs2036001365
|
0.00001
|
NM_018129.4(PNPO):c.504G>A (p.Gly168=)
|
rs141387622
|
0.00001
|
NM_018129.4(PNPO):c.507T>C (p.Ala169=)
|
rs998099969
|
0.00001
|
NM_018129.4(PNPO):c.534C>T (p.Ile178=)
|
rs1473185475
|
0.00001
|
NM_018129.4(PNPO):c.544G>A (p.Glu182Lys)
|
rs138727329
|
0.00001
|
NM_018129.4(PNPO):c.546+8G>A
|
rs745918502
|
0.00001
|
NM_018129.4(PNPO):c.573G>A (p.Leu191=)
|
rs1220880028
|
0.00001
|
NM_018129.4(PNPO):c.583T>C (p.Tyr195His)
|
rs747870171
|
0.00001
|
NM_018129.4(PNPO):c.605A>G (p.Lys202Arg)
|
rs746525939
|
0.00001
|
NM_018129.4(PNPO):c.617+3G>A
|
rs368997507
|
0.00001
|
NM_018129.4(PNPO):c.62A>T (p.Tyr21Phe)
|
rs766650337
|
0.00001
|
NM_018129.4(PNPO):c.636C>T (p.Tyr212=)
|
rs770600469
|
0.00001
|
NM_018129.4(PNPO):c.643G>T (p.Val215Leu)
|
rs1307726861
|
0.00001
|
NM_018129.4(PNPO):c.651G>A (p.Glu217=)
|
rs1355932139
|
0.00001
|
NM_018129.4(PNPO):c.667A>G (p.Thr223Ala)
|
rs1598200536
|
0.00001
|
NM_018129.4(PNPO):c.679C>T (p.His227Tyr)
|
rs762176765
|
0.00001
|
NM_018129.4(PNPO):c.685C>T (p.Arg229Trp)
|
rs104894629
|
0.00001
|
NM_018129.4(PNPO):c.712A>G (p.Thr238Ala)
|
rs2036015392
|
0.00001
|
NM_018129.4(PNPO):c.736A>G (p.Met246Val)
|
rs1233788410
|
0.00001
|
NM_018129.4(PNPO):c.747C>T (p.Arg249=)
|
rs1567714229
|
0.00001
|
NM_018129.4(PNPO):c.83G>A (p.Arg28His)
|
rs866973135
|
0.00001
|
NM_018129.4(PNPO):c.89C>T (p.Ala30Val)
|
rs796052871
|
0.00001
|
NM_018129.4(PNPO):c.91G>C (p.Ala31Pro)
|
rs765314515
|
0.00001
|
NC_000017.10:g.(?_46019042)_(46024148_?)del
|
|
|
NC_000017.10:g.(?_46019042)_(46024148_?)dup
|
|
|
NM_018129.3(PNPO):c.*2535_*2539delCAACC
|
rs144540976
|
|
NM_018129.3(PNPO):c.620delG
|
|
|
NM_018129.4(PNPO):c.*1123G>A
|
rs886053108
|
|
NM_018129.4(PNPO):c.*1190A>G
|
rs2036031977
|
|
NM_018129.4(PNPO):c.*141C>T
|
rs967569458
|
|
NM_018129.4(PNPO):c.*1513G>T
|
rs776945316
|
|
NM_018129.4(PNPO):c.*1777C>G
|
rs886053110
|
|
NM_018129.4(PNPO):c.*1803C>A
|
rs2036038077
|
|
NM_018129.4(PNPO):c.*282_*283insAG
|
rs886053102
|
|
NM_018129.4(PNPO):c.*301C>A
|
rs540606185
|
|
NM_018129.4(PNPO):c.*656_*657dup
|
rs35312568
|
|
NM_018129.4(PNPO):c.*731del
|
rs796725211
|
|
NM_018129.4(PNPO):c.*738TTCTTTT[3]
|
rs886053104
|
|
NM_018129.4(PNPO):c.*764dup
|
rs199634607
|
|
NM_018129.4(PNPO):c.*791G>A
|
rs886053106
|
|
NM_018129.4(PNPO):c.*84A>T
|
rs1205048579
|
|
NM_018129.4(PNPO):c.*877G>T
|
rs1403002079
|
|
NM_018129.4(PNPO):c.-19A>G
|
rs886053099
|
|
NM_018129.4(PNPO):c.100C>T (p.Leu34=)
|
rs2144156169
|
|
NM_018129.4(PNPO):c.102G>A (p.Leu34=)
|
|
|
NM_018129.4(PNPO):c.106C>T (p.Pro36Ser)
|
rs2035939125
|
|
NM_018129.4(PNPO):c.110T>C (p.Met37Thr)
|
rs2035939209
|
|
NM_018129.4(PNPO):c.112C>A (p.Arg38Ser)
|
rs866454740
|
|
NM_018129.4(PNPO):c.114C>T (p.Arg38=)
|
|
|
NM_018129.4(PNPO):c.119G>A (p.Ser40Asn)
|
rs797045893
|
|
NM_018129.4(PNPO):c.11G>C (p.Trp4Ser)
|
rs1466672254
|
|
NM_018129.4(PNPO):c.124C>T (p.Arg42Cys)
|
rs1291472865
|
|
NM_018129.4(PNPO):c.127G>C (p.Gly43Arg)
|
rs867426939
|
|
NM_018129.4(PNPO):c.130G>C (p.Asp44His)
|
|
|
NM_018129.4(PNPO):c.132C>T (p.Asp44=)
|
rs1355321284
|
|
NM_018129.4(PNPO):c.134G>A (p.Arg45Gln)
|
rs975643797
|
|
NM_018129.4(PNPO):c.138+13G>A
|
rs757114373
|
|
NM_018129.4(PNPO):c.138+14G>A
|
|
|
NM_018129.4(PNPO):c.138+1G>A
|
|
|
NM_018129.4(PNPO):c.138+8C>A
|
rs1165063198
|
|
NM_018129.4(PNPO):c.138+8C>T
|
|
|
NM_018129.4(PNPO):c.138+9G>T
|
|
|
NM_018129.4(PNPO):c.139-16A>C
|
|
|
NM_018129.4(PNPO):c.139-17T>C
|
|
|
NM_018129.4(PNPO):c.139-7T>C
|
rs2144160524
|
|
NM_018129.4(PNPO):c.139-8T>C
|
|
|
NM_018129.4(PNPO):c.139G>A (p.Ala47Thr)
|
rs2035966950
|
|
NM_018129.4(PNPO):c.140C>T (p.Ala47Val)
|
rs2144160555
|
|
NM_018129.4(PNPO):c.144T>C (p.Phe48=)
|
|
|
NM_018129.4(PNPO):c.154C>T (p.His52Tyr)
|
|
|
NM_018129.4(PNPO):c.160A>T (p.Thr54Ser)
|
rs2144160632
|
|
NM_018129.4(PNPO):c.162C>G (p.Thr54=)
|
|
|
NM_018129.4(PNPO):c.16C>T (p.Arg6Trp)
|
rs765997859
|
|
NM_018129.4(PNPO):c.184T>C (p.Phe62Leu)
|
rs1598197051
|
|
NM_018129.4(PNPO):c.18G>A (p.Arg6=)
|
rs2144155784
|
|
NM_018129.4(PNPO):c.205delinsTTTCCCCT (p.Ala69fs)
|
rs2035968630
|
|
NM_018129.4(PNPO):c.222C>T (p.Asp74=)
|
|
|
NM_018129.4(PNPO):c.226G>A (p.Gly76Arg)
|
rs370329917
|
|
NM_018129.4(PNPO):c.228G>A (p.Gly76=)
|
|
|
NM_018129.4(PNPO):c.22G>A (p.Val8Ile)
|
rs2144155842
|
|
NM_018129.4(PNPO):c.236A>G (p.Asn79Ser)
|
rs755839067
|
|
NM_018129.4(PNPO):c.242T>A (p.Met81Lys)
|
|
|
NM_018129.4(PNPO):c.244T>C (p.Cys82Arg)
|
|
|
NM_018129.4(PNPO):c.246del (p.Leu83fs)
|
|
|
NM_018129.4(PNPO):c.255C>G (p.Thr85=)
|
|
|
NM_018129.4(PNPO):c.255C>T (p.Thr85=)
|
|
|
NM_018129.4(PNPO):c.257G>A (p.Cys86Tyr)
|
rs2035969639
|
|
NM_018129.4(PNPO):c.263+10G>A
|
|
|
NM_018129.4(PNPO):c.263+12T>C
|
|
|
NM_018129.4(PNPO):c.263+17G>A
|
|
|
NM_018129.4(PNPO):c.263+17_263+19del
|
|
|
NM_018129.4(PNPO):c.263+3G>A
|
rs1598197140
|
|
NM_018129.4(PNPO):c.263+6C>T
|
rs2144160857
|
|
NM_018129.4(PNPO):c.263G>T (p.Arg88Ile)
|
rs2144160841
|
|
NM_018129.4(PNPO):c.264-19C>G
|
rs1290170015
|
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NM_018129.4(PNPO):c.264-19C>T
|
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|
NM_018129.4(PNPO):c.264-2A>G
|
rs780977054
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|
NM_018129.4(PNPO):c.264-3T>C
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|
NM_018129.4(PNPO):c.264-7C>T
|
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|
NM_018129.4(PNPO):c.269G>A (p.Gly90Glu)
|
rs1489587035
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NM_018129.4(PNPO):c.276C>T (p.Pro92=)
|
|
|
NM_018129.4(PNPO):c.27G>A (p.Thr9=)
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|
NM_018129.4(PNPO):c.281C>T (p.Ala94Val)
|
rs1555563203
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|
NM_018129.4(PNPO):c.283C>A (p.Arg95Ser)
|
rs1483600034
|
|
NM_018129.4(PNPO):c.283C>T (p.Arg95Cys)
|
rs1483600034
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|
NM_018129.4(PNPO):c.28G>C (p.Ala10Pro)
|
rs895290391
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NM_018129.4(PNPO):c.295C>T (p.Leu99=)
|
|
|
NM_018129.4(PNPO):c.297G>A (p.Leu99=)
|
rs2144162979
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NM_018129.4(PNPO):c.301G>A (p.Gly101Ser)
|
|
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NM_018129.4(PNPO):c.304T>G (p.Phe102Val)
|
|
|
NM_018129.4(PNPO):c.30G>A (p.Ala10=)
|
|
|
NM_018129.4(PNPO):c.310A>G (p.Lys104Glu)
|
rs2144162999
|
|
NM_018129.4(PNPO):c.318C>T (p.Gly106=)
|
|
|
NM_018129.4(PNPO):c.319T>G (p.Phe107Val)
|
rs2035985793
|
|
NM_018129.4(PNPO):c.323G>A (p.Arg108His)
|
rs769985808
|
|
NM_018129.4(PNPO):c.323G>T (p.Arg108Leu)
|
rs769985808
|
|
NM_018129.4(PNPO):c.330C>T (p.Phe110=)
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|
|
NM_018129.4(PNPO):c.339C>T (p.Phe113=)
|
rs768966816
|
|
NM_018129.4(PNPO):c.346C>T (p.Arg116Ter)
|
rs148839273
|
|
NM_018129.4(PNPO):c.352G>A (p.Gly118Arg)
|
|
|
NM_018129.4(PNPO):c.354A>G (p.Gly118=)
|
|
|
NM_018129.4(PNPO):c.356A>G (p.Lys119Arg)
|
rs2144163109
|
|
NM_018129.4(PNPO):c.363+11A>G
|
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|
NM_018129.4(PNPO):c.363+13A>T
|
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|
NM_018129.4(PNPO):c.363+16T>C
|
|
|
NM_018129.4(PNPO):c.363+19_363+32del
|
rs745695670
|
|
NM_018129.4(PNPO):c.363+20A>G
|
rs913036820
|
|
NM_018129.4(PNPO):c.363+7G>A
|
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|
NM_018129.4(PNPO):c.364-14T>G
|
|
|
NM_018129.4(PNPO):c.364-4C>A
|
rs1598199158
|
|
NM_018129.4(PNPO):c.364-9T>G
|
|
|
NM_018129.4(PNPO):c.36C>T (p.Phe12=)
|
|
|
NM_018129.4(PNPO):c.384C>A (p.Ser128=)
|
|
|
NM_018129.4(PNPO):c.384C>T (p.Ser128=)
|
|
|
NM_018129.4(PNPO):c.385C>T (p.Leu129Phe)
|
rs891457932
|
|
NM_018129.4(PNPO):c.394T>C (p.Tyr132His)
|
|
|
NM_018129.4(PNPO):c.395A>G (p.Tyr132Cys)
|
rs1567713601
|
|
NM_018129.4(PNPO):c.39G>T (p.Gly13=)
|
|
|
NM_018129.4(PNPO):c.411C>T (p.Asn137=)
|
rs1598199254
|
|
NM_018129.4(PNPO):c.412C>T (p.Arg138Cys)
|
|
|
NM_018129.4(PNPO):c.417+7del
|
|
|
NM_018129.4(PNPO):c.418-15G>A
|
|
|
NM_018129.4(PNPO):c.418-1G>C
|
rs2144165139
|
|
NM_018129.4(PNPO):c.418-20C>T
|
|
|
NM_018129.4(PNPO):c.420G>A (p.Val140=)
|
|
|
NM_018129.4(PNPO):c.420G>T (p.Val140=)
|
rs770834414
|
|
NM_018129.4(PNPO):c.421C>T (p.Arg141Cys)
|
|
|
NM_018129.4(PNPO):c.422_433del (p.Arg141_Gly144del)
|
|
|
NM_018129.4(PNPO):c.423T>G (p.Arg141=)
|
|
|
NM_018129.4(PNPO):c.431G>A (p.Gly144Asp)
|
rs762554901
|
|
NM_018129.4(PNPO):c.431G>C (p.Gly144Ala)
|
rs762554901
|
|
NM_018129.4(PNPO):c.434C>T (p.Pro145Leu)
|
rs373528454
|
|
NM_018129.4(PNPO):c.439A>G (p.Lys147Glu)
|
|
|
NM_018129.4(PNPO):c.442A>C (p.Lys148Gln)
|
rs2036000732
|
|
NM_018129.4(PNPO):c.448_451del (p.Pro150fs)
|
rs796052872
|
|
NM_018129.4(PNPO):c.450T>C (p.Pro150=)
|
rs138082739
|
|
NM_018129.4(PNPO):c.453G>A (p.Glu151=)
|
rs779377757
|
|
NM_018129.4(PNPO):c.456G>A (p.Glu152=)
|
rs267604926
|
|
NM_018129.4(PNPO):c.459G>A (p.Glu153=)
|
|
|
NM_018129.4(PNPO):c.471C>T (p.Tyr157=)
|
|
|
NM_018129.4(PNPO):c.481C>T (p.Arg161Cys)
|
rs146027425
|
|
NM_018129.4(PNPO):c.485C>T (p.Pro162Leu)
|
rs2144165302
|
|
NM_018129.4(PNPO):c.498G>A (p.Gln166=)
|
|
|
NM_018129.4(PNPO):c.4A>G (p.Thr2Ala)
|
rs2035936049
|
|
NM_018129.4(PNPO):c.506C>T (p.Ala169Val)
|
rs1370405581
|
|
NM_018129.4(PNPO):c.509T>C (p.Val170Ala)
|
|
|
NM_018129.4(PNPO):c.51G>A (p.Glu17=)
|
|
|
NM_018129.4(PNPO):c.520C>T (p.Gln174Ter)
|
rs267606958
|
|
NM_018129.4(PNPO):c.537T>C (p.Pro179=)
|
|
|
NM_018129.4(PNPO):c.539_541dup (p.Asp180_Arg181insHis)
|
rs1131691848
|
|
NM_018129.4(PNPO):c.546+10G>A
|
|
|
NM_018129.4(PNPO):c.546+11C>G
|
|
|
NM_018129.4(PNPO):c.546+12T>C
|
|
|
NM_018129.4(PNPO):c.546+16C>A
|
|
|
NM_018129.4(PNPO):c.546+1G>A
|
|
|
NM_018129.4(PNPO):c.546+7G>A
|
|
|
NM_018129.4(PNPO):c.547-12C>T
|
|
|
NM_018129.4(PNPO):c.547-13T>G
|
|
|
NM_018129.4(PNPO):c.547-1G>A
|
|
|
NM_018129.4(PNPO):c.547-2A>T
|
rs796052869
|
|
NM_018129.4(PNPO):c.547-4A>G
|
|
|
NM_018129.4(PNPO):c.547-9C>T
|
|
|
NM_018129.4(PNPO):c.547T>G (p.Tyr183Asp)
|
rs1315253583
|
|
NM_018129.4(PNPO):c.549T>C (p.Tyr183=)
|
rs2036008214
|
|
NM_018129.4(PNPO):c.563dup (p.Asn188fs)
|
|
|
NM_018129.4(PNPO):c.564T>C (p.Asn188=)
|
|
|
NM_018129.4(PNPO):c.570A>G (p.Glu190=)
|
|
|
NM_018129.4(PNPO):c.576A>G (p.Glu192=)
|
|
|
NM_018129.4(PNPO):c.582C>G (p.Leu194=)
|
|
|
NM_018129.4(PNPO):c.59G>C (p.Gly20Ala)
|
rs906198568
|
|
NM_018129.4(PNPO):c.59G>T (p.Gly20Val)
|
rs906198568
|
|
NM_018129.4(PNPO):c.600G>A (p.Val200=)
|
|
|
NM_018129.4(PNPO):c.606G>A (p.Lys202=)
|
rs1426539031
|
|
NM_018129.4(PNPO):c.609A>G (p.Pro203=)
|
|
|
NM_018129.4(PNPO):c.617+18G>A
|
rs745712972
|
|
NM_018129.4(PNPO):c.617+19T>C
|
|
|
NM_018129.4(PNPO):c.617+20C>A
|
|
|
NM_018129.4(PNPO):c.618-10C>G
|
rs748045101
|
|
NM_018129.4(PNPO):c.618-13C>T
|
|
|
NM_018129.4(PNPO):c.618-19C>T
|
|
|
NM_018129.4(PNPO):c.628G>C (p.Val210Leu)
|
|
|
NM_018129.4(PNPO):c.630C>G (p.Val210=)
|
|
|
NM_018129.4(PNPO):c.652T>C (p.Phe218Leu)
|
|
|
NM_018129.4(PNPO):c.659A>G (p.Gln220Arg)
|
|
|
NM_018129.4(PNPO):c.668C>T (p.Thr223Ile)
|
rs886053101
|
|
NM_018129.4(PNPO):c.66C>T (p.Leu22=)
|
rs2144156076
|
|
NM_018129.4(PNPO):c.674G>A (p.Arg225His)
|
|
|
NM_018129.4(PNPO):c.674G>T (p.Arg225Leu)
|
rs550423482
|
|
NM_018129.4(PNPO):c.692T>A (p.Val231Asp)
|
|
|
NM_018129.4(PNPO):c.693C>A (p.Val231=)
|
rs2144166702
|
|
NM_018129.4(PNPO):c.69dup (p.His24fs)
|
|
|
NM_018129.4(PNPO):c.6G>A (p.Thr2=)
|
|
|
NM_018129.4(PNPO):c.700C>T (p.Arg234Trp)
|
rs368943864
|
|
NM_018129.4(PNPO):c.718G>T (p.Asp240Tyr)
|
rs1178667430
|
|
NM_018129.4(PNPO):c.720T>G (p.Asp240Glu)
|
rs886937123
|
|
NM_018129.4(PNPO):c.722C>A (p.Ser241Tyr)
|
rs2036015748
|
|
NM_018129.4(PNPO):c.734C>T (p.Pro245Leu)
|
rs2036016316
|
|
NM_018129.4(PNPO):c.746G>A (p.Arg249His)
|
|
|
NM_018129.4(PNPO):c.751del (p.Glu251fs)
|
rs1567714242
|
|
NM_018129.4(PNPO):c.759C>G (p.Asp253Glu)
|
rs757023013
|
|
NM_018129.4(PNPO):c.765C>T (p.Leu255=)
|
|
|
NM_018129.4(PNPO):c.784T>C (p.Ter262Gln)
|
rs104894631
|
|
NM_018129.4(PNPO):c.81T>C (p.Gly27=)
|
|
|
NM_018129.4(PNPO):c.83G>T (p.Arg28Leu)
|
|
|
NM_018129.4(PNPO):c.99C>T (p.Asp33=)
|
|
|
NM_018129.4(PNPO):c.9C>T (p.Cys3=)
|
|
|