ClinVar Miner

List of variants in gene PNPO studied for brain disorder

Included ClinVar conditions (1840):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 332
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HGVS dbSNP gnomAD frequency
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
NM_018129.4(PNPO):c.264-19C>T
NM_018129.4(PNPO):c.264-2A>G rs780977054
NM_018129.4(PNPO):c.264-3T>C
NM_018129.4(PNPO):c.264-7C>T
NM_018129.4(PNPO):c.269G>A (p.Gly90Glu) rs1489587035
NM_018129.4(PNPO):c.276C>T (p.Pro92=)
NM_018129.4(PNPO):c.27G>A (p.Thr9=)
NM_018129.4(PNPO):c.281C>T (p.Ala94Val) rs1555563203
NM_018129.4(PNPO):c.283C>A (p.Arg95Ser) rs1483600034
NM_018129.4(PNPO):c.283C>T (p.Arg95Cys) rs1483600034
NM_018129.4(PNPO):c.28G>C (p.Ala10Pro) rs895290391
NM_018129.4(PNPO):c.295C>T (p.Leu99=)
NM_018129.4(PNPO):c.297G>A (p.Leu99=) rs2144162979
NM_018129.4(PNPO):c.301G>A (p.Gly101Ser)
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=)
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
NM_018129.4(PNPO):c.363+13A>T
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
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=)

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