NM_000303.3(PMM2):c.*368C>G
|
rs72766379
|
0.00580
|
NM_000303.3(PMM2):c.*492C>G
|
rs548732618
|
0.00352
|
NM_000303.3(PMM2):c.*1074T>C
|
rs147284732
|
0.00129
|
NM_000303.3(PMM2):c.*410A>G
|
rs77027373
|
0.00102
|
NM_000303.3(PMM2):c.*833G>A
|
rs144056509
|
0.00086
|
NM_000303.3(PMM2):c.*896G>A
|
rs78930414
|
0.00051
|
NM_000303.3(PMM2):c.657G>C (p.Glu219Asp)
|
rs144040842
|
0.00039
|
NM_000303.3(PMM2):c.713G>A (p.Arg238His)
|
rs151319324
|
0.00035
|
NM_000303.3(PMM2):c.*1434C>A
|
rs546341789
|
0.00029
|
NM_000303.3(PMM2):c.*477G>A
|
rs529074146
|
0.00029
|
NM_000303.3(PMM2):c.*242C>T
|
rs866278750
|
0.00020
|
NM_000303.3(PMM2):c.*52C>T
|
rs565165106
|
0.00019
|
NM_000303.3(PMM2):c.*733C>T
|
rs886052466
|
0.00019
|
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu)
|
rs201556985
|
0.00019
|
NM_000303.3(PMM2):c.*1195G>T
|
rs186712555
|
0.00017
|
NM_000303.3(PMM2):c.*10G>A
|
rs200930493
|
0.00015
|
NM_000303.3(PMM2):c.634A>G (p.Met212Val)
|
rs3743808
|
0.00014
|
NM_000303.3(PMM2):c.149A>T (p.Glu50Val)
|
rs182336960
|
0.00012
|
NM_000303.3(PMM2):c.*1136T>C
|
rs574947575
|
0.00010
|
NM_000303.3(PMM2):c.*1348A>G
|
rs188346349
|
0.00010
|
NM_000303.3(PMM2):c.441C>T (p.Leu147=)
|
rs146990448
|
0.00010
|
NM_000303.3(PMM2):c.66+5G>A
|
rs375808631
|
0.00010
|
NM_000303.3(PMM2):c.*1063C>T
|
rs539046271
|
0.00006
|
NM_000303.3(PMM2):c.*1086G>A
|
rs567957339
|
0.00006
|
NM_000303.3(PMM2):c.*246C>T
|
rs756637944
|
0.00006
|
NM_000303.3(PMM2):c.*476C>T
|
rs886052463
|
0.00006
|
NM_000303.3(PMM2):c.256-13T>G
|
rs62031145
|
0.00006
|
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr)
|
rs368582085
|
0.00006
|
NM_000303.3(PMM2):c.426T>G (p.Ile142Met)
|
rs781610241
|
0.00006
|
NM_000303.3(PMM2):c.436G>A (p.Glu146Lys)
|
rs142420230
|
0.00006
|
NM_000303.3(PMM2):c.487A>C (p.Lys163Gln)
|
rs138383066
|
0.00006
|
NM_000303.3(PMM2):c.640-12G>A
|
rs375325546
|
0.00006
|
NM_000303.3(PMM2):c.*205C>T
|
rs556232441
|
0.00005
|
NM_000303.3(PMM2):c.*26C>T
|
rs138528126
|
0.00005
|
NM_000303.3(PMM2):c.524-5G>A
|
rs373584132
|
0.00005
|
NM_000303.3(PMM2):c.586G>A (p.Val196Met)
|
rs547216044
|
0.00005
|
NM_000303.3(PMM2):c.738C>G (p.Ser246=)
|
rs373888957
|
0.00005
|
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu)
|
rs749720760
|
0.00005
|
NM_000303.3(PMM2):c.*365G>T
|
rs886052460
|
0.00004
|
NM_000303.3(PMM2):c.*588G>A
|
rs886052464
|
0.00004
|
NM_000303.3(PMM2):c.-34C>T
|
rs751782324
|
0.00004
|
NM_000303.3(PMM2):c.447+4C>T
|
rs537238935
|
0.00004
|
NM_000303.3(PMM2):c.581G>A (p.Arg194Gln)
|
rs371629121
|
0.00004
|
NM_000303.3(PMM2):c.639+10G>A
|
rs200593954
|
0.00004
|
NM_000303.3(PMM2):c.*1297C>T
|
rs183853029
|
0.00003
|
NM_000303.3(PMM2):c.*383C>T
|
rs886052461
|
0.00003
|
NM_000303.3(PMM2):c.*674G>A
|
rs886052465
|
0.00003
|
NM_000303.3(PMM2):c.*695C>T
|
rs767981809
|
0.00003
|
NM_000303.3(PMM2):c.*81C>T
|
rs886052458
|
0.00003
|
NM_000303.3(PMM2):c.*888A>G
|
rs886052467
|
0.00003
|
NM_000303.3(PMM2):c.*959C>G
|
rs886052469
|
0.00003
|
NM_000303.3(PMM2):c.200T>G (p.Val67Gly)
|
rs751986971
|
0.00003
|
NM_000303.3(PMM2):c.597C>T (p.Asp199=)
|
rs376412367
|
0.00003
|
NM_000303.3(PMM2):c.712C>T (p.Arg238Cys)
|
rs142459706
|
0.00003
|
NM_000303.3(PMM2):c.*1103C>T
|
rs886052470
|
0.00002
|
NM_000303.3(PMM2):c.*1138T>G
|
rs999681403
|
0.00002
|
NM_000303.3(PMM2):c.*972C>T
|
rs746081212
|
0.00002
|
NM_000303.3(PMM2):c.154G>C (p.Val52Leu)
|
rs148608841
|
0.00002
|
NM_000303.3(PMM2):c.447+5G>A
|
rs367852554
|
0.00002
|
NM_000303.3(PMM2):c.680T>C (p.Met227Thr)
|
rs772410793
|
0.00002
|
NM_000303.3(PMM2):c.69A>G (p.Lys23=)
|
rs1189907173
|
0.00002
|
NM_000303.3(PMM2):c.*1260C>T
|
rs886052471
|
0.00001
|
NM_000303.3(PMM2):c.*1345T>C
|
rs144652247
|
0.00001
|
NM_000303.3(PMM2):c.*658C>T
|
rs549756162
|
0.00001
|
NM_000303.3(PMM2):c.*891C>T
|
rs886052468
|
0.00001
|
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg)
|
rs755402538
|
0.00001
|
NM_000303.3(PMM2):c.126A>G (p.Gly42=)
|
rs766984518
|
0.00001
|
NM_000303.3(PMM2):c.127G>C (p.Val43Leu)
|
rs376754460
|
0.00001
|
NM_000303.3(PMM2):c.14G>A (p.Gly5Asp)
|
rs773813007
|
0.00001
|
NM_000303.3(PMM2):c.178+12G>A
|
rs2060618999
|
0.00001
|
NM_000303.3(PMM2):c.178G>T (p.Val60Leu)
|
rs759513930
|
0.00001
|
NM_000303.3(PMM2):c.252A>T (p.Arg84Ser)
|
rs375826588
|
0.00001
|
NM_000303.3(PMM2):c.255+5G>T
|
rs370480677
|
0.00001
|
NM_000303.3(PMM2):c.255G>A (p.Gln85=)
|
rs115344041
|
0.00001
|
NM_000303.3(PMM2):c.284del (p.Leu95fs)
|
rs757865122
|
0.00001
|
NM_000303.3(PMM2):c.28C>T (p.Leu10Phe)
|
rs1215262242
|
0.00001
|
NM_000303.3(PMM2):c.305A>G (p.Tyr102Cys)
|
rs1187245939
|
0.00001
|
NM_000303.3(PMM2):c.334C>G (p.Leu112Val)
|
rs757323701
|
0.00001
|
NM_000303.3(PMM2):c.401G>A (p.Arg134Lys)
|
rs1159211374
|
0.00001
|
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg)
|
rs767831048
|
0.00001
|
NM_000303.3(PMM2):c.523+3A>G
|
rs774107741
|
0.00001
|
NM_000303.3(PMM2):c.52A>C (p.Thr18Pro)
|
rs757040733
|
0.00001
|
NM_000303.3(PMM2):c.531G>C (p.Gln177His)
|
rs771162235
|
0.00001
|
NM_000303.3(PMM2):c.545T>A (p.Val182Asp)
|
rs774532663
|
0.00001
|
NM_000303.3(PMM2):c.559T>C (p.Trp187Arg)
|
rs781346472
|
0.00001
|
NM_000303.3(PMM2):c.58C>T (p.Pro20Ser)
|
rs949271895
|
0.00001
|
NM_000303.3(PMM2):c.593A>C (p.Asn198Thr)
|
rs773420873
|
0.00001
|
NM_000303.3(PMM2):c.595G>C (p.Asp199His)
|
rs1281138749
|
0.00001
|
NM_000303.3(PMM2):c.645C>T (p.Gly215=)
|
rs765599626
|
0.00001
|
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser)
|
rs78290141
|
0.00001
|
NM_000303.3(PMM2):c.652C>A (p.His218Asn)
|
rs398123310
|
0.00001
|
NC_000016.10:g.(?_8750402)_(8801930_?)dup
|
|
|
NC_000016.10:g.(?_8764049)_(8811733_?)dup
|
|
|
NC_000016.10:g.(?_8768173)_(8832245_?)dup
|
|
|
NC_000016.10:g.(?_8772760)_(8847845_?)dup
|
|
|
NC_000016.10:g.(?_8781289)_(8847845_?)dup
|
|
|
NC_000016.9:g.(?_8839838)_(8900284_?)dup
|
|
|
NC_000016.9:g.(?_8839838)_(8905055_?)dup
|
|
|
NC_000016.9:g.(?_8839838)_(8941682_?)dup
|
|
|
NC_000016.9:g.(?_8891573)_(8941682_?)dup
|
|
|
NC_000016.9:g.(?_8891720)_(8900284_?)dup
|
|
|
NC_000016.9:g.(?_8926102)_(8941682_?)dup
|
|
|
NM_000303.3(PMM2):c.*1032C>G
|
rs79686490
|
|
NM_000303.3(PMM2):c.*1072A>G
|
rs2060947173
|
|
NM_000303.3(PMM2):c.*1142A>T
|
rs760967158
|
|
NM_000303.3(PMM2):c.*1218A>G
|
rs557668852
|
|
NM_000303.3(PMM2):c.*1297C>A
|
rs183853029
|
|
NM_000303.3(PMM2):c.*1312T>C
|
rs905795044
|
|
NM_000303.3(PMM2):c.*1352G>C
|
rs750545597
|
|
NM_000303.3(PMM2):c.*1375G>T
|
rs886052472
|
|
NM_000303.3(PMM2):c.*137G>A
|
rs886052459
|
|
NM_000303.3(PMM2):c.*1380A>G
|
rs2060949906
|
|
NM_000303.3(PMM2):c.*1424C>T
|
rs552732593
|
|
NM_000303.3(PMM2):c.*1440C>G
|
rs147950728
|
|
NM_000303.3(PMM2):c.*255A>G
|
rs2060940260
|
|
NM_000303.3(PMM2):c.*275A>T
|
rs553522916
|
|
NM_000303.3(PMM2):c.*276C>G
|
rs573179742
|
|
NM_000303.3(PMM2):c.*421G>T
|
rs1178910267
|
|
NM_000303.3(PMM2):c.*458C>T
|
rs1380890616
|
|
NM_000303.3(PMM2):c.*53G>C
|
rs762640350
|
|
NM_000303.3(PMM2):c.*91C>T
|
|
|
NM_000303.3(PMM2):c.117C>G (p.Ile39Met)
|
|
|
NM_000303.3(PMM2):c.127G>T (p.Val43Leu)
|
rs376754460
|
|
NM_000303.3(PMM2):c.129G>A (p.Val43=)
|
rs777608895
|
|
NM_000303.3(PMM2):c.137G>A (p.Gly46Glu)
|
rs2141017011
|
|
NM_000303.3(PMM2):c.140C>T (p.Ser47Leu)
|
|
|
NM_000303.3(PMM2):c.169G>C (p.Gly57Arg)
|
|
|
NM_000303.3(PMM2):c.178+3A>G
|
|
|
NM_000303.3(PMM2):c.179-15del
|
rs145496357
|
|
NM_000303.3(PMM2):c.188A>T (p.Lys63Ile)
|
|
|
NM_000303.3(PMM2):c.191A>C (p.Tyr64Ser)
|
|
|
NM_000303.3(PMM2):c.203T>G (p.Phe68Cys)
|
rs373788015
|
|
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser)
|
rs769648248
|
|
NM_000303.3(PMM2):c.223G>C (p.Ala75Pro)
|
|
|
NM_000303.3(PMM2):c.235G>C (p.Gly79Arg)
|
|
|
NM_000303.3(PMM2):c.248G>A (p.Cys83Tyr)
|
|
|
NM_000303.3(PMM2):c.261T>G (p.Ile87Met)
|
|
|
NM_000303.3(PMM2):c.264A>C (p.Gln88His)
|
|
|
NM_000303.3(PMM2):c.279G>T (p.Glu93Asp)
|
|
|
NM_000303.3(PMM2):c.28C>G (p.Leu10Val)
|
|
|
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe)
|
rs387906824
|
|
NM_000303.3(PMM2):c.328A>G (p.Ile110Val)
|
|
|
NM_000303.3(PMM2):c.329T>G (p.Ile110Ser)
|
rs2141020030
|
|
NM_000303.3(PMM2):c.337C>A (p.Pro113Thr)
|
rs765433263
|
|
NM_000303.3(PMM2):c.341AGA[1] (p.Lys115del)
|
rs1555449316
|
|
NM_000303.3(PMM2):c.347+15A>C
|
rs751222355
|
|
NM_000303.3(PMM2):c.347+3G>A
|
|
|
NM_000303.3(PMM2):c.348-2_348-1insAA
|
|
|
NM_000303.3(PMM2):c.349G>T (p.Gly117Cys)
|
rs104894530
|
|
NM_000303.3(PMM2):c.352A>G (p.Thr118Ala)
|
rs886043289
|
|
NM_000303.3(PMM2):c.353C>G (p.Thr118Ser)
|
|
|
NM_000303.3(PMM2):c.359T>A (p.Ile120Asn)
|
|
|
NM_000303.3(PMM2):c.363A>T (p.Glu121Asp)
|
rs2141022972
|
|
NM_000303.3(PMM2):c.366C>G (p.Phe122Leu)
|
|
|
NM_000303.3(PMM2):c.405C>A (p.Ser135Arg)
|
|
|
NM_000303.3(PMM2):c.40G>A (p.Asp14Asn)
|
rs1473030550
|
|
NM_000303.3(PMM2):c.410G>C (p.Ser137Thr)
|
rs2060675203
|
|
NM_000303.3(PMM2):c.434A>G (p.Tyr145Cys)
|
|
|
NM_000303.3(PMM2):c.447A>T (p.Lys149Asn)
|
|
|
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala)
|
rs958073558
|
|
NM_000303.3(PMM2):c.457A>G (p.Ile153Val)
|
rs1596489094
|
|
NM_000303.3(PMM2):c.458T>G (p.Ile153Arg)
|
rs150577656
|
|
NM_000303.3(PMM2):c.463C>G (p.Gln155Glu)
|
|
|
NM_000303.3(PMM2):c.472G>A (p.Val158Ile)
|
rs969802549
|
|
NM_000303.3(PMM2):c.47C>T (p.Thr16Ile)
|
rs1162452555
|
|
NM_000303.3(PMM2):c.485G>A (p.Arg162Gln)
|
|
|
NM_000303.3(PMM2):c.488A>C (p.Lys163Thr)
|
|
|
NM_000303.3(PMM2):c.490G>C (p.Glu164Gln)
|
rs2060678778
|
|
NM_000303.3(PMM2):c.4G>A (p.Ala2Thr)
|
rs2141014078
|
|
NM_000303.3(PMM2):c.508C>T (p.Leu170Phe)
|
rs183384745
|
|
NM_000303.3(PMM2):c.512C>T (p.Thr171Met)
|
|
|
NM_000303.3(PMM2):c.521T>C (p.Ile174Thr)
|
|
|
NM_000303.3(PMM2):c.522A>G (p.Ile174Met)
|
|
|
NM_000303.3(PMM2):c.523+5T>C
|
|
|
NM_000303.3(PMM2):c.527G>A (p.Gly176Asp)
|
rs940938678
|
|
NM_000303.3(PMM2):c.534C>G (p.Ile178Met)
|
|
|
NM_000303.3(PMM2):c.539T>C (p.Phe180Ser)
|
rs1293479073
|
|
NM_000303.3(PMM2):c.544G>C (p.Val182Leu)
|
rs750862179
|
|
NM_000303.3(PMM2):c.550C>A (p.Pro184Thr)
|
rs1555449795
|
|
NM_000303.3(PMM2):c.552T>C (p.Pro184=)
|
rs560182098
|
|
NM_000303.3(PMM2):c.554A>G (p.Asp185Gly)
|
rs1386173214
|
|
NM_000303.3(PMM2):c.56C>T (p.Ala19Val)
|
rs750307011
|
|
NM_000303.3(PMM2):c.571T>C (p.Tyr191His)
|
rs1267170921
|
|
NM_000303.3(PMM2):c.593A>G (p.Asn198Ser)
|
rs773420873
|
|
NM_000303.3(PMM2):c.598G>A (p.Gly200Ser)
|
|
|
NM_000303.3(PMM2):c.599G>T (p.Gly200Val)
|
|
|
NM_000303.3(PMM2):c.59C>G (p.Pro20Arg)
|
rs2060588870
|
|
NM_000303.3(PMM2):c.59C>T (p.Pro20Leu)
|
|
|
NM_000303.3(PMM2):c.602A>G (p.Tyr201Cys)
|
|
|
NM_000303.3(PMM2):c.617del (p.Phe206fs)
|
rs1555449810
|
|
NM_000303.3(PMM2):c.618C>A (p.Phe206Leu)
|
rs1460691341
|
|
NM_000303.3(PMM2):c.61C>T (p.Arg21Trp)
|
rs758340382
|
|
NM_000303.3(PMM2):c.627C>G (p.Asp209Glu)
|
|
|
NM_000303.3(PMM2):c.631A>G (p.Thr211Ala)
|
|
|
NM_000303.3(PMM2):c.640-13C>A
|
rs372181885
|
|
NM_000303.3(PMM2):c.640-16C>G
|
rs2141051377
|
|
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser)
|
rs1555453238
|
|
NM_000303.3(PMM2):c.651C>A (p.Asp217Glu)
|
rs752614554
|
|
NM_000303.3(PMM2):c.653dup (p.His218fs)
|
rs1555453241
|
|
NM_000303.3(PMM2):c.660C>G (p.Ile220Met)
|
|
|
NM_000303.3(PMM2):c.67-6A>G
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NM_000303.3(PMM2):c.671C>G (p.Pro224Arg)
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rs778488908
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NM_000303.3(PMM2):c.671C>T (p.Pro224Leu)
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NM_000303.3(PMM2):c.697G>A (p.Ala233Thr)
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NM_000303.3(PMM2):c.701C>T (p.Pro234Leu)
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NM_000303.3(PMM2):c.703G>C (p.Glu235Gln)
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NM_000303.3(PMM2):c.703G>T (p.Glu235Ter)
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rs763091085
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NM_000303.3(PMM2):c.706G>A (p.Asp236Asn)
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NM_000303.3(PMM2):c.708C>G (p.Asp236Glu)
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NM_000303.3(PMM2):c.735C>G (p.Phe245Leu)
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NM_000303.3(PMM2):c.737C>A (p.Ser246Tyr)
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rs769177253
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NM_000303.3(PMM2):c.737_739del (p.Ser246del)
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rs764817746
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NM_000303.3(PMM2):c.739T>C (p.Ter247Gln)
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rs1555453271
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NM_000303.3(PMM2):c.76A>G (p.Lys26Glu)
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NM_000303.3(PMM2):c.93C>T (p.Phe31=)
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rs61730638
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