NM_000303.3(PMM2):c.*252C>A
|
rs2075828
|
0.41543
|
NM_000303.3(PMM2):c.*997A>G
|
rs1056898
|
0.28325
|
NM_000303.3(PMM2):c.*175G>A
|
rs2072688
|
0.26303
|
NM_000303.3(PMM2):c.*136A>C
|
rs2075827
|
0.24978
|
NM_000303.3(PMM2):c.66+209C>T
|
rs9939787
|
0.17150
|
NM_000303.3(PMM2):c.639+62C>T
|
rs3743807
|
0.15368
|
NM_000303.3(PMM2):c.*96G>C
|
rs11554040
|
0.14272
|
NM_000303.3(PMM2):c.*1259C>G
|
rs78698557
|
0.04619
|
NM_000303.3(PMM2):c.*560A>G
|
rs2447928
|
0.04419
|
NM_000303.3(PMM2):c.*1360C>T
|
rs72766381
|
0.03294
|
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala)
|
rs34258285
|
0.02088
|
NM_000303.3(PMM2):c.*534G>A
|
rs2447929
|
0.01770
|
NM_000303.3(PMM2):c.*994A>T
|
rs113234190
|
0.01373
|
NM_000303.3(PMM2):c.324G>A (p.Ala108=)
|
rs62031146
|
0.01239
|
NM_000303.3(PMM2):c.*166C>G
|
rs115474235
|
0.00982
|
NM_000303.3(PMM2):c.*17G>A
|
rs9936097
|
0.00905
|
NM_000303.3(PMM2):c.640-46G>A
|
rs113866602
|
0.00632
|
NM_000303.3(PMM2):c.*368C>G
|
rs72766379
|
0.00580
|
NM_000303.3(PMM2):c.*915T>A
|
rs114954775
|
0.00441
|
NM_000303.3(PMM2):c.*492C>G
|
rs548732618
|
0.00352
|
NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
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.639+19G>C
|
rs145473288
|
0.00074
|
NM_000303.3(PMM2):c.640-13C>T
|
rs372181885
|
0.00073
|
NM_000303.3(PMM2):c.*896G>A
|
rs78930414
|
0.00051
|
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)
|
rs190521996
|
0.00042
|
NM_000303.3(PMM2):c.657G>C (p.Glu219Asp)
|
rs144040842
|
0.00039
|
NM_000303.3(PMM2):c.110A>T (p.Gln37Leu)
|
rs2304472
|
0.00035
|
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.366C>T (p.Phe122=)
|
rs145714866
|
0.00027
|
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser)
|
rs80338709
|
0.00027
|
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.368G>A (p.Arg123Gln)
|
rs141498002
|
0.00017
|
NM_000303.3(PMM2):c.*10G>A
|
rs200930493
|
0.00015
|
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter)
|
rs764353860
|
0.00014
|
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn)
|
rs148032587
|
0.00014
|
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.513G>A (p.Thr171=)
|
rs371399381
|
0.00008
|
NM_000303.3(PMM2):c.255+2T>C
|
rs139716296
|
0.00007
|
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.339G>A (p.Pro113=)
|
rs149849259
|
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.430T>C (p.Phe144Leu)
|
rs150719105
|
0.00006
|
NM_000303.3(PMM2):c.435C>T (p.Tyr145=)
|
rs550231531
|
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.120A>G (p.Lys40=)
|
rs975864088
|
0.00004
|
NM_000303.3(PMM2):c.135C>T (p.Gly45=)
|
rs748980961
|
0.00004
|
NM_000303.3(PMM2):c.192C>T (p.Tyr64=)
|
rs372537052
|
0.00004
|
NM_000303.3(PMM2):c.24del (p.Cys9fs)
|
rs768021123
|
0.00004
|
NM_000303.3(PMM2):c.384C>T (p.Asn128=)
|
rs147068457
|
0.00004
|
NM_000303.3(PMM2):c.421C>T (p.Arg141Cys)
|
rs746610168
|
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.640-15479C>T
|
rs1258107584
|
0.00004
|
NM_000303.3(PMM2):c.691G>A (p.Val231Met)
|
rs80338707
|
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.24C>G (p.Leu8=)
|
rs751757467
|
0.00003
|
NM_000303.3(PMM2):c.256-10C>T
|
rs756647792
|
0.00003
|
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu)
|
rs80338701
|
0.00003
|
NM_000303.3(PMM2):c.573C>T (p.Tyr191=)
|
rs201440361
|
0.00003
|
NM_000303.3(PMM2):c.597C>T (p.Asp199=)
|
rs376412367
|
0.00003
|
NM_000303.3(PMM2):c.640-9T>G
|
rs370160676
|
0.00003
|
NM_000303.3(PMM2):c.699G>A (p.Ala233=)
|
rs375881270
|
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.104T>A (p.Leu35Ter)
|
rs1555448899
|
0.00002
|
NM_000303.3(PMM2):c.154G>C (p.Val52Leu)
|
rs148608841
|
0.00002
|
NM_000303.3(PMM2):c.15C>A (p.Gly5=)
|
rs1277297216
|
0.00002
|
NM_000303.3(PMM2):c.178+1G>A
|
rs935962174
|
0.00002
|
NM_000303.3(PMM2):c.255+1G>A
|
rs1060499598
|
0.00002
|
NM_000303.3(PMM2):c.367C>T (p.Arg123Ter)
|
rs191295403
|
0.00002
|
NM_000303.3(PMM2):c.447+5G>A
|
rs367852554
|
0.00002
|
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)
|
rs104894526
|
0.00002
|
NM_000303.3(PMM2):c.524-16C>T
|
rs748427371
|
0.00002
|
NM_000303.3(PMM2):c.548T>C (p.Phe183Ser)
|
rs780581250
|
0.00002
|
NM_000303.3(PMM2):c.580C>T (p.Arg194Ter)
|
rs199562225
|
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.711G>A (p.Thr237=)
|
rs753794337
|
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.111G>A (p.Gln37=)
|
rs762773046
|
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.129G>C (p.Val43=)
|
rs777608895
|
0.00001
|
NM_000303.3(PMM2):c.141G>A (p.Ser47=)
|
rs533650526
|
0.00001
|
NM_000303.3(PMM2):c.14G>A (p.Gly5Asp)
|
rs773813007
|
0.00001
|
NM_000303.3(PMM2):c.159G>A (p.Gln53=)
|
rs1481859853
|
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.179-4G>T
|
rs776262869
|
0.00001
|
NM_000303.3(PMM2):c.193G>T (p.Asp65Tyr)
|
rs104894527
|
0.00001
|
NM_000303.3(PMM2):c.213T>C (p.Asn71=)
|
rs1209724849
|
0.00001
|
NM_000303.3(PMM2):c.240A>G (p.Lys80=)
|
rs748552663
|
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.256-1G>C
|
rs757394782
|
0.00001
|
NM_000303.3(PMM2):c.27C>T (p.Cys9=)
|
rs1057516943
|
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.306C>T (p.Tyr102=)
|
rs184769421
|
0.00001
|
NM_000303.3(PMM2):c.310C>G (p.Leu104Val)
|
rs770458492
|
0.00001
|
NM_000303.3(PMM2):c.312G>A (p.Leu104=)
|
rs773943361
|
0.00001
|
NM_000303.3(PMM2):c.323C>T (p.Ala108Val)
|
rs200503569
|
0.00001
|
NM_000303.3(PMM2):c.334C>G (p.Leu112Val)
|
rs757323701
|
0.00001
|
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu)
|
rs80338700
|
0.00001
|
NM_000303.3(PMM2):c.390C>T (p.Ser130=)
|
rs763944822
|
0.00001
|
NM_000303.3(PMM2):c.395T>C (p.Ile132Thr)
|
rs80338702
|
0.00001
|
NM_000303.3(PMM2):c.401G>A (p.Arg134Lys)
|
rs1159211374
|
0.00001
|
NM_000303.3(PMM2):c.408C>T (p.Cys136=)
|
rs371694616
|
0.00001
|
NM_000303.3(PMM2):c.414A>G (p.Gln138=)
|
rs1465175487
|
0.00001
|
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg)
|
rs767831048
|
0.00001
|
NM_000303.3(PMM2):c.458T>C (p.Ile153Thr)
|
rs150577656
|
0.00001
|
NM_000303.3(PMM2):c.523+3A>G
|
rs774107741
|
0.00001
|
NM_000303.3(PMM2):c.523+8A>G
|
rs374840518
|
0.00001
|
NM_000303.3(PMM2):c.524-15G>A
|
rs770574770
|
0.00001
|
NM_000303.3(PMM2):c.524-6C>T
|
rs772184641
|
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.53C>G (p.Thr18Ser)
|
rs760265100
|
0.00001
|
NM_000303.3(PMM2):c.545T>A (p.Val182Asp)
|
rs774532663
|
0.00001
|
NM_000303.3(PMM2):c.549T>C (p.Phe183=)
|
rs1426754260
|
0.00001
|
NM_000303.3(PMM2):c.559T>C (p.Trp187Arg)
|
rs781346472
|
0.00001
|
NM_000303.3(PMM2):c.560G>A (p.Trp187Ter)
|
rs1057516886
|
0.00001
|
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly)
|
rs80338704
|
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.620T>C (p.Phe207Ser)
|
rs532870929
|
0.00001
|
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala)
|
rs398123309
|
0.00001
|
NM_000303.3(PMM2):c.639+7A>G
|
rs2060687125
|
0.00001
|
NM_000303.3(PMM2):c.640-7T>C
|
rs1255464127
|
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.648T>C (p.Asn216=)
|
rs139236770
|
0.00001
|
NM_000303.3(PMM2):c.652C>A (p.His218Asn)
|
rs398123310
|
0.00001
|
NM_000303.3(PMM2):c.66+1G>T
|
rs937726878
|
0.00001
|
NM_000303.3(PMM2):c.66+7G>A
|
rs1272368081
|
0.00001
|
NM_000303.3(PMM2):c.690C>T (p.Ser230=)
|
rs769332588
|
0.00001
|
NM_000303.3(PMM2):c.720C>A (p.Ile240=)
|
rs923499720
|
0.00001
|
NM_000303.3(PMM2):c.95T>G (p.Leu32Arg)
|
rs104894533
|
0.00001
|
NM_000303.3(PMM2):c.97C>T (p.Gln33Ter)
|
rs149530060
|
0.00001
|
NC_000016.10:g.(?_8797873)_(8797958_?)del
|
|
|
NC_000016.10:g.(?_8804742)_(8804853_?)del
|
|
|
NC_000016.10:g.(?_8804742)_(8813116_?)del
|
|
|
NC_000016.10:g.(?_8847701)_(8847845_?)del
|
|
|
NC_000016.10:g.8852245_8823657delinsAluYb8
|
|
|
NC_000016.9:g.(8900265_8904935)_(8943195_?)del
|
|
|
NC_000016.9:g.(8906964_8941580)_(8943195_?)del
|
|
|
NC_000016.9:g.(?_8891573)_(8941682_?)dup
|
|
|
NC_000016.9:g.(?_8891720)_(8900284_?)dup
|
|
|
NC_000016.9:g.(?_8895646)_(8895777_?)del
|
|
|
NC_000016.9:g.(?_8895646)_(8895777_?)dup
|
|
|
NC_000016.9:g.(?_8898599)_(8898710_?)dup
|
|
|
NC_000016.9:g.(?_8900163)_(8941692_?)del
|
|
|
NC_000016.9:g.(?_8905475)_(8905590_?)del
|
|
|
NC_000016.9:g.(?_8906828)_(8906983_?)del
|
|
|
NC_000016.9:g.(?_8926102)_(8941682_?)dup
|
|
|
NM_000303.3(PMM2):c.*1032C>A
|
rs79686490
|
|
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.*1224C>A
|
rs74008087
|
|
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.*791G>C
|
rs2437722
|
|
NM_000303.3(PMM2):c.*91C>T
|
|
|
NM_000303.3(PMM2):c.-167G>T
|
rs1596481676
|
|
NM_000303.3(PMM2):c.105G>A (p.Leu35=)
|
|
|
NM_000303.3(PMM2):c.117C>G (p.Ile39Met)
|
|
|
NM_000303.3(PMM2):c.123C>T (p.Ile41=)
|
rs751463681
|
|
NM_000303.3(PMM2):c.124G>T (p.Gly42Ter)
|
|
|
NM_000303.3(PMM2):c.127G>A (p.Val43Met)
|
rs376754460
|
|
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.129G>T (p.Val43=)
|
rs777608895
|
|
NM_000303.3(PMM2):c.130G>A (p.Val44Ile)
|
rs2060618497
|
|
NM_000303.3(PMM2):c.130G>C (p.Val44Leu)
|
|
|
NM_000303.3(PMM2):c.131T>C (p.Val44Ala)
|
rs104894534
|
|
NM_000303.3(PMM2):c.135C>A (p.Gly45=)
|
rs748980961
|
|
NM_000303.3(PMM2):c.137G>A (p.Gly46Glu)
|
rs2141017011
|
|
NM_000303.3(PMM2):c.140C>T (p.Ser47Leu)
|
|
|
NM_000303.3(PMM2):c.156G>A (p.Val52=)
|
|
|
NM_000303.3(PMM2):c.156G>T (p.Val52=)
|
rs2141017027
|
|
NM_000303.3(PMM2):c.157C>T (p.Gln53Ter)
|
rs1057520708
|
|
NM_000303.3(PMM2):c.15C>G (p.Gly5=)
|
|
|
NM_000303.3(PMM2):c.15C>T (p.Gly5=)
|
|
|
NM_000303.3(PMM2):c.160dup (p.Glu54fs)
|
rs753122961
|
|
NM_000303.3(PMM2):c.162G>A (p.Glu54=)
|
rs1596484153
|
|
NM_000303.3(PMM2):c.165A>G (p.Gln55=)
|
|
|
NM_000303.3(PMM2):c.168G>T (p.Leu56=)
|
rs1013771553
|
|
NM_000303.3(PMM2):c.169G>C (p.Gly57Arg)
|
|
|
NM_000303.3(PMM2):c.16_22del (p.Pro6fs)
|
rs2141014102
|
|
NM_000303.3(PMM2):c.173del (p.Asn58fs)
|
|
|
NM_000303.3(PMM2):c.178+11G>C
|
|
|
NM_000303.3(PMM2):c.178+20T>G
|
|
|
NM_000303.3(PMM2):c.178+2T>G
|
rs1555448922
|
|
NM_000303.3(PMM2):c.178+3A>G
|
|
|
NM_000303.3(PMM2):c.178+7G>A
|
rs376829859
|
|
NM_000303.3(PMM2):c.179-12T>C
|
|
|
NM_000303.3(PMM2):c.179-13G>A
|
|
|
NM_000303.3(PMM2):c.179-15del
|
rs145496357
|
|
NM_000303.3(PMM2):c.179-15dup
|
rs145496357
|
|
NM_000303.3(PMM2):c.179-1G>C
|
|
|
NM_000303.3(PMM2):c.179-1G>T
|
rs1166138838
|
|
NM_000303.3(PMM2):c.179-20T>G
|
|
|
NM_000303.3(PMM2):c.179-25A>G
|
|
|
NM_000303.3(PMM2):c.179-2A>G
|
rs2141019036
|
|
NM_000303.3(PMM2):c.179-4G>A
|
|
|
NM_000303.3(PMM2):c.179-6T>C
|
rs2060637002
|
|
NM_000303.3(PMM2):c.179-7A>T
|
rs2060636990
|
|
NM_000303.3(PMM2):c.179-8G>C
|
|
|
NM_000303.3(PMM2):c.17_28del (p.Pro6_Cys9del)
|
|
|
NM_000303.3(PMM2):c.188A>T (p.Lys63Ile)
|
|
|
NM_000303.3(PMM2):c.189del (p.Lys63fs)
|
rs1057516815
|
|
NM_000303.3(PMM2):c.18A>G (p.Pro6=)
|
|
|
NM_000303.3(PMM2):c.190del (p.Tyr64fs)
|
rs1339004837
|
|
NM_000303.3(PMM2):c.191A>C (p.Tyr64Ser)
|
|
|
NM_000303.3(PMM2):c.192C>G (p.Tyr64Ter)
|
|
|
NM_000303.3(PMM2):c.193G>A (p.Asp65Asn)
|
|
|
NM_000303.3(PMM2):c.194A>G (p.Asp65Gly)
|
|
|
NM_000303.3(PMM2):c.195T>C (p.Asp65=)
|
|
|
NM_000303.3(PMM2):c.196dup (p.Tyr66fs)
|
|
|
NM_000303.3(PMM2):c.197_198del (p.Tyr66fs)
|
|
|
NM_000303.3(PMM2):c.1A>G (p.Met1Val)
|
rs786204591
|
|
NM_000303.3(PMM2):c.201_202del (p.Phe68fs)
|
rs1343161886
|
|
NM_000303.3(PMM2):c.203T>G (p.Phe68Cys)
|
rs373788015
|
|
NM_000303.3(PMM2):c.205C>A (p.Pro69Thr)
|
|
|
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser)
|
rs769648248
|
|
NM_000303.3(PMM2):c.206C>T (p.Pro69Leu)
|
|
|
NM_000303.3(PMM2):c.207A>G (p.Pro69=)
|
rs1053902842
|
|
NM_000303.3(PMM2):c.208G>T (p.Glu70Ter)
|
|
|
NM_000303.3(PMM2):c.217T>C (p.Leu73=)
|
rs1446327044
|
|
NM_000303.3(PMM2):c.21G>C (p.Ala7=)
|
rs1333237246
|
|
NM_000303.3(PMM2):c.223G>C (p.Ala75Pro)
|
|
|
NM_000303.3(PMM2):c.225A>G (p.Ala75=)
|
|
|
NM_000303.3(PMM2):c.228C>A (p.Tyr76Ter)
|
|
|
NM_000303.3(PMM2):c.231del (p.Asp78fs)
|
|
|
NM_000303.3(PMM2):c.234T>C (p.Asp78=)
|
rs1186149338
|
|
NM_000303.3(PMM2):c.235G>C (p.Gly79Arg)
|
|
|
NM_000303.3(PMM2):c.243C>T (p.Leu81=)
|
rs1169352353
|
|
NM_000303.3(PMM2):c.243_244del (p.Leu82fs)
|
rs2060637616
|
|
NM_000303.3(PMM2):c.244T>C (p.Leu82=)
|
rs1399590258
|
|
NM_000303.3(PMM2):c.248G>A (p.Cys83Tyr)
|
|
|
NM_000303.3(PMM2):c.250A>T (p.Arg84Ter)
|
|
|
NM_000303.3(PMM2):c.253C>T (p.Gln85Ter)
|
|
|
NM_000303.3(PMM2):c.255+17C>G
|
|
|
NM_000303.3(PMM2):c.255+1G>C
|
|
|
NM_000303.3(PMM2):c.255+2T>G
|
|
|
NM_000303.3(PMM2):c.255+8C>T
|
|
|
NM_000303.3(PMM2):c.256-15A>T
|
|
|
NM_000303.3(PMM2):c.256-17G>T
|
|
|
NM_000303.3(PMM2):c.256-18_256-15del
|
|
|
NM_000303.3(PMM2):c.256-1G>A
|
|
|
NM_000303.3(PMM2):c.256-2A>G
|
rs1057516372
|
|
NM_000303.3(PMM2):c.256-5T>C
|
rs1430962288
|
|
NM_000303.3(PMM2):c.256-6A>C
|
|
|
NM_000303.3(PMM2):c.256-7C>T
|
rs561075568
|
|
NM_000303.3(PMM2):c.261T>G (p.Ile87Met)
|
|
|
NM_000303.3(PMM2):c.264A>C (p.Gln88His)
|
|
|
NM_000303.3(PMM2):c.264A>G (p.Gln88=)
|
rs376597290
|
|
NM_000303.3(PMM2):c.264_265del (p.His90fs)
|
rs2141019983
|
|
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr)
|
rs104894532
|
|
NM_000303.3(PMM2):c.26G>T (p.Cys9Phe)
|
|
|
NM_000303.3(PMM2):c.270T>C (p.His90=)
|
|
|
NM_000303.3(PMM2):c.273G>A (p.Leu91=)
|
rs2141019988
|
|
NM_000303.3(PMM2):c.279G>A (p.Glu93=)
|
|
|
NM_000303.3(PMM2):c.279G>T (p.Glu93Asp)
|
|
|
NM_000303.3(PMM2):c.27C>A (p.Cys9Ter)
|
rs1057516943
|
|
NM_000303.3(PMM2):c.283C>T (p.Leu95=)
|
rs2060647522
|
|
NM_000303.3(PMM2):c.285A>C (p.Leu95=)
|
rs2141019992
|
|
NM_000303.3(PMM2):c.285A>T (p.Leu95=)
|
|
|
NM_000303.3(PMM2):c.288C>T (p.Ile96=)
|
|
|
NM_000303.3(PMM2):c.28C>G (p.Leu10Val)
|
|
|
NM_000303.3(PMM2):c.28del (p.Leu10fs)
|
|
|
NM_000303.3(PMM2):c.294T>C (p.Asp98=)
|
|
|
NM_000303.3(PMM2):c.295T>C (p.Leu99=)
|
|
|
NM_000303.3(PMM2):c.295_296del (p.Leu99fs)
|
|
|
NM_000303.3(PMM2):c.296T>A (p.Leu99Ter)
|
|
|
NM_000303.3(PMM2):c.297A>G (p.Leu99=)
|
|
|
NM_000303.3(PMM2):c.300C>A (p.Ile100=)
|
|
|
NM_000303.3(PMM2):c.300C>T (p.Ile100=)
|
rs747970886
|
|
NM_000303.3(PMM2):c.303C>G (p.Asn101Lys)
|
|
|
NM_000303.3(PMM2):c.309T>A (p.Cys103Ter)
|
|
|
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe)
|
rs387906824
|
|
NM_000303.3(PMM2):c.318C>T (p.Tyr106=)
|
rs930344709
|
|
NM_000303.3(PMM2):c.324G>C (p.Ala108=)
|
|
|
NM_000303.3(PMM2):c.324del (p.Ile110fs)
|
rs1555449314
|
|
NM_000303.3(PMM2):c.325A>T (p.Lys109Ter)
|
|
|
NM_000303.3(PMM2):c.328A>G (p.Ile110Val)
|
|
|
NM_000303.3(PMM2):c.328_329insGGGAA (p.Ile110fs)
|
|
|
NM_000303.3(PMM2):c.329T>G (p.Ile110Ser)
|
rs2141020030
|
|
NM_000303.3(PMM2):c.336C>G (p.Leu112=)
|
|
|
NM_000303.3(PMM2):c.337C>A (p.Pro113Thr)
|
rs765433263
|
|
NM_000303.3(PMM2):c.339G>C (p.Pro113=)
|
|
|
NM_000303.3(PMM2):c.339G>T (p.Pro113=)
|
rs149849259
|
|
NM_000303.3(PMM2):c.340A>T (p.Lys114Ter)
|
|
|
NM_000303.3(PMM2):c.341AGA[1] (p.Lys115del)
|
rs1555449316
|
|
NM_000303.3(PMM2):c.345G>A (p.Lys115=)
|
rs2141020046
|
|
NM_000303.3(PMM2):c.345dup (p.Arg116fs)
|
rs1057516757
|
|
NM_000303.3(PMM2):c.347+15A>C
|
rs751222355
|
|
NM_000303.3(PMM2):c.347+17C>T
|
|
|
NM_000303.3(PMM2):c.347+1G>A
|
rs1057517117
|
|
NM_000303.3(PMM2):c.347+20A>G
|
|
|
NM_000303.3(PMM2):c.347+3G>A
|
|
|
NM_000303.3(PMM2):c.347+8T>C
|
|
|
NM_000303.3(PMM2):c.348-14C>T
|
|
|
NM_000303.3(PMM2):c.348-17C>T
|
|
|
NM_000303.3(PMM2):c.348-19G>A
|
rs1057523353
|
|
NM_000303.3(PMM2):c.348-19_348-18del
|
|
|
NM_000303.3(PMM2):c.348-1G>C
|
rs1555449604
|
|
NM_000303.3(PMM2):c.348-2A>C
|
rs1555449603
|
|
NM_000303.3(PMM2):c.348-2A>G
|
|
|
NM_000303.3(PMM2):c.348-2_348-1insAA
|
|
|
NM_000303.3(PMM2):c.348-2del
|
rs2141022949
|
|
NM_000303.3(PMM2):c.348-3del
|
rs2141022947
|
|
NM_000303.3(PMM2):c.348-4C>T
|
|
|
NM_000303.3(PMM2):c.348-5C>A
|
rs746660218
|
|
NM_000303.3(PMM2):c.348-5C>T
|
rs746660218
|
|
NM_000303.3(PMM2):c.348-8A>C
|
|
|
NM_000303.3(PMM2):c.348-8A>T
|
rs186061775
|
|
NM_000303.3(PMM2):c.348-9C>A
|
rs1247908378
|
|
NM_000303.3(PMM2):c.349G>C (p.Gly117Arg)
|
rs104894530
|
|
NM_000303.3(PMM2):c.349G>T (p.Gly117Cys)
|
rs104894530
|
|
NM_000303.3(PMM2):c.34G>C (p.Asp12His)
|
|
|
NM_000303.3(PMM2):c.352A>G (p.Thr118Ala)
|
rs886043289
|
|
NM_000303.3(PMM2):c.353C>G (p.Thr118Ser)
|
|
|
NM_000303.3(PMM2):c.354T>C (p.Thr118=)
|
rs2141022957
|
|
NM_000303.3(PMM2):c.355T>C (p.Phe119Leu)
|
rs1057517110
|
|
NM_000303.3(PMM2):c.356T>C (p.Phe119Ser)
|
|
|
NM_000303.3(PMM2):c.357C>T (p.Phe119=)
|
rs80338701
|
|
NM_000303.3(PMM2):c.359T>A (p.Ile120Asn)
|
|
|
NM_000303.3(PMM2):c.360T>G (p.Ile120Met)
|
|
|
NM_000303.3(PMM2):c.363A>T (p.Glu121Asp)
|
rs2141022972
|
|
NM_000303.3(PMM2):c.365del (p.Phe122fs)
|
|
|
NM_000303.3(PMM2):c.366C>G (p.Phe122Leu)
|
|
|
NM_000303.3(PMM2):c.375G>A (p.Gly125=)
|
|
|
NM_000303.3(PMM2):c.375G>T (p.Gly125=)
|
|
|
NM_000303.3(PMM2):c.377_381del (p.Met126fs)
|
rs2141022986
|
|
NM_000303.3(PMM2):c.385G>A (p.Val129Met)
|
rs104894525
|
|
NM_000303.3(PMM2):c.385G>T (p.Val129Leu)
|
rs104894525
|
|
NM_000303.3(PMM2):c.386T>C (p.Val129Ala)
|
|
|
NM_000303.3(PMM2):c.387G>A (p.Val129=)
|
rs1310455453
|
|
NM_000303.3(PMM2):c.387G>C (p.Val129=)
|
|
|
NM_000303.3(PMM2):c.390C>G (p.Ser130=)
|
rs763944822
|
|
NM_000303.3(PMM2):c.391C>G (p.Pro131Ala)
|
|
|
NM_000303.3(PMM2):c.392del (p.Pro131fs)
|
rs1555449607
|
|
NM_000303.3(PMM2):c.394A>T (p.Ile132Phe)
|
rs753632453
|
|
NM_000303.3(PMM2):c.395T>A (p.Ile132Asn)
|
|
|
NM_000303.3(PMM2):c.396T>A (p.Ile132=)
|
|
|
NM_000303.3(PMM2):c.396T>C (p.Ile132=)
|
rs750388534
|
|
NM_000303.3(PMM2):c.399A>G (p.Gly133=)
|
rs886043741
|
|
NM_000303.3(PMM2):c.405C>A (p.Ser135Arg)
|
|
|
NM_000303.3(PMM2):c.405C>T (p.Ser135=)
|
|
|
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.414del (p.Glu139fs)
|
rs755008774
|
|
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys)
|
rs80338703
|
|
NM_000303.3(PMM2):c.430T>G (p.Phe144Val)
|
|
|
NM_000303.3(PMM2):c.431T>G (p.Phe144Cys)
|
rs2141023054
|
|
NM_000303.3(PMM2):c.432C>A (p.Phe144Leu)
|
rs1555449617
|
|
NM_000303.3(PMM2):c.434A>G (p.Tyr145Cys)
|
|
|
NM_000303.3(PMM2):c.441C>G (p.Leu147=)
|
rs146990448
|
|
NM_000303.3(PMM2):c.442G>T (p.Asp148Tyr)
|
|
|
NM_000303.3(PMM2):c.444T>C (p.Asp148=)
|
rs2141023076
|
|
NM_000303.3(PMM2):c.447+11C>A
|
|
|
NM_000303.3(PMM2):c.447+19T>A
|
|
|
NM_000303.3(PMM2):c.447+19T>C
|
rs11074924
|
|
NM_000303.3(PMM2):c.447+2T>A
|
rs1567160054
|
|
NM_000303.3(PMM2):c.447+7C>A
|
rs1365835297
|
|
NM_000303.3(PMM2):c.447+7C>G
|
rs1365835297
|
|
NM_000303.3(PMM2):c.447+7C>T
|
|
|
NM_000303.3(PMM2):c.447+8T>C
|
|
|
NM_000303.3(PMM2):c.447A>T (p.Lys149Asn)
|
|
|
NM_000303.3(PMM2):c.448-11G>A
|
|
|
NM_000303.3(PMM2):c.448-13_448-12del
|
rs1000876069
|
|
NM_000303.3(PMM2):c.448-15T>C
|
|
|
NM_000303.3(PMM2):c.448-16T>C
|
|
|
NM_000303.3(PMM2):c.448-18T>A
|
|
|
NM_000303.3(PMM2):c.448-18T>C
|
|
|
NM_000303.3(PMM2):c.448-1G>A
|
rs762937296
|
|
NM_000303.3(PMM2):c.448-1_448del
|
rs1414007551
|
|
NM_000303.3(PMM2):c.448-23_448-18del
|
rs747968957
|
|
NM_000303.3(PMM2):c.448-2A>G
|
rs2141023331
|
|
NM_000303.3(PMM2):c.448-2A>T
|
rs2141023331
|
|
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala)
|
rs958073558
|
|
NM_000303.3(PMM2):c.451G>T (p.Glu151Ter)
|
rs2141023340
|
|
NM_000303.3(PMM2):c.451_454del
|
rs1274794195
|
|
NM_000303.3(PMM2):c.454_455del (p.Asn152fs)
|
rs771240150
|
|
NM_000303.3(PMM2):c.457A>G (p.Ile153Val)
|
rs1596489094
|
|
NM_000303.3(PMM2):c.457dup (p.Ile153fs)
|
rs2141023345
|
|
NM_000303.3(PMM2):c.458T>A (p.Ile153Lys)
|
|
|
NM_000303.3(PMM2):c.458T>G (p.Ile153Arg)
|
rs150577656
|
|
NM_000303.3(PMM2):c.458_462del (p.Ile153fs)
|
rs774738702
|
|
NM_000303.3(PMM2):c.459A>G (p.Ile153Met)
|
|
|
NM_000303.3(PMM2):c.45G>C (p.Gly15=)
|
rs2141014144
|
|
NM_000303.3(PMM2):c.460A>T (p.Arg154Ter)
|
|
|
NM_000303.3(PMM2):c.463C>G (p.Gln155Glu)
|
|
|
NM_000303.3(PMM2):c.463C>T (p.Gln155Ter)
|
rs754407762
|
|
NM_000303.3(PMM2):c.467_468delinsT (p.Lys156fs)
|
|
|
NM_000303.3(PMM2):c.470T>G (p.Phe157Cys)
|
|
|
NM_000303.3(PMM2):c.472G>A (p.Val158Ile)
|
rs969802549
|
|
NM_000303.3(PMM2):c.477A>G (p.Ala159=)
|
|
|
NM_000303.3(PMM2):c.47C>T (p.Thr16Ile)
|
rs1162452555
|
|
NM_000303.3(PMM2):c.483A>G (p.Leu161=)
|
|
|
NM_000303.3(PMM2):c.483A>T (p.Leu161=)
|
rs1433032795
|
|
NM_000303.3(PMM2):c.485G>A (p.Arg162Gln)
|
|
|
NM_000303.3(PMM2):c.485G>C (p.Arg162Pro)
|
|
|
NM_000303.3(PMM2):c.486G>T (p.Arg162=)
|
|
|
NM_000303.3(PMM2):c.488A>C (p.Lys163Thr)
|
|
|
NM_000303.3(PMM2):c.488_491del (p.Lys163fs)
|
rs2060678732
|
|
NM_000303.3(PMM2):c.48C>A (p.Thr16=)
|
|
|
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.507C>T (p.Gly169=)
|
rs2141023382
|
|
NM_000303.3(PMM2):c.508C>T (p.Leu170Phe)
|
rs183384745
|
|
NM_000303.3(PMM2):c.511dup (p.Thr171fs)
|
rs1057516323
|
|
NM_000303.3(PMM2):c.512C>T (p.Thr171Met)
|
|
|
NM_000303.3(PMM2):c.513G>C (p.Thr171=)
|
|
|
NM_000303.3(PMM2):c.51C>A (p.Leu17=)
|
rs753546439
|
|
NM_000303.3(PMM2):c.51C>G (p.Leu17=)
|
|
|
NM_000303.3(PMM2):c.521T>C (p.Ile174Thr)
|
|
|
NM_000303.3(PMM2):c.522A>G (p.Ile174Met)
|
|
|
NM_000303.3(PMM2):c.523+10A>G
|
rs2141023411
|
|
NM_000303.3(PMM2):c.523+11T>C
|
|
|
NM_000303.3(PMM2):c.523+13T>C
|
|
|
NM_000303.3(PMM2):c.523+14T>C
|
|
|
NM_000303.3(PMM2):c.523+15G>A
|
|
|
NM_000303.3(PMM2):c.523+16C>G
|
|
|
NM_000303.3(PMM2):c.523+18T>A
|
|
|
NM_000303.3(PMM2):c.523+19G>C
|
|
|
NM_000303.3(PMM2):c.523+1del
|
rs2141023403
|
|
NM_000303.3(PMM2):c.523+5T>C
|
|
|
NM_000303.3(PMM2):c.523G>C (p.Gly175Arg)
|
|
|
NM_000303.3(PMM2):c.523G>T (p.Gly175Ter)
|
|
|
NM_000303.3(PMM2):c.524-10C>T
|
|
|
NM_000303.3(PMM2):c.524-13C>G
|
|
|
NM_000303.3(PMM2):c.524-15G>C
|
|
|
NM_000303.3(PMM2):c.524-17C>A
|
|
|
NM_000303.3(PMM2):c.524-17C>T
|
|
|
NM_000303.3(PMM2):c.524-2A>G
|
rs1555449780
|
|
NM_000303.3(PMM2):c.524-4G>T
|
|
|
NM_000303.3(PMM2):c.524-4del
|
rs1315129289
|
|
NM_000303.3(PMM2):c.524-6del
|
rs746143153
|
|
NM_000303.3(PMM2):c.524-7C>T
|
rs2141024194
|
|
NM_000303.3(PMM2):c.524-9A>C
|
rs2141024190
|
|
NM_000303.3(PMM2):c.527G>A (p.Gly176Asp)
|
rs940938678
|
|
NM_000303.3(PMM2):c.527G>T (p.Gly176Val)
|
rs940938678
|
|
NM_000303.3(PMM2):c.528C>T (p.Gly176=)
|
|
|
NM_000303.3(PMM2):c.52A>G (p.Thr18Ala)
|
|
|
NM_000303.3(PMM2):c.531G>A (p.Gln177=)
|
|
|
NM_000303.3(PMM2):c.534C>G (p.Ile178Met)
|
|
|
NM_000303.3(PMM2):c.534C>T (p.Ile178=)
|
|
|
NM_000303.3(PMM2):c.537C>T (p.Ser179=)
|
|
|
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.54C>T (p.Thr18=)
|
|
|
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.556G>A (p.Gly186Arg)
|
rs1384610957
|
|
NM_000303.3(PMM2):c.558A>G (p.Gly186=)
|
|
|
NM_000303.3(PMM2):c.55del (p.Ala19fs)
|
rs1596481889
|
|
NM_000303.3(PMM2):c.561G>A (p.Trp187Ter)
|
rs201855351
|
|
NM_000303.3(PMM2):c.562G>T (p.Asp188Tyr)
|
rs2141024241
|
|
NM_000303.3(PMM2):c.562del (p.Asp188fs)
|
|
|
NM_000303.3(PMM2):c.564C>A (p.Asp188Glu)
|
|
|
NM_000303.3(PMM2):c.564C>T (p.Asp188=)
|
rs2060686207
|
|
NM_000303.3(PMM2):c.566_571delinsGTGGATTTCC (p.Lys189fs)
|
rs2060686245
|
|
NM_000303.3(PMM2):c.567G>A (p.Lys189=)
|
|
|
NM_000303.3(PMM2):c.568A>C (p.Arg190=)
|
|
|
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.573C>A (p.Tyr191Ter)
|
rs201440361
|
|
NM_000303.3(PMM2):c.574T>A (p.Cys192Ser)
|
|
|
NM_000303.3(PMM2):c.574T>C (p.Cys192Arg)
|
|
|
NM_000303.3(PMM2):c.577C>G (p.Leu193Val)
|
|
|
NM_000303.3(PMM2):c.584_585del (p.His195fs)
|
|
|
NM_000303.3(PMM2):c.585T>C (p.His195=)
|
rs2141024274
|
|
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.59del (p.Pro20fs)
|
rs2141014161
|
|
NM_000303.3(PMM2):c.600T>A (p.Gly200=)
|
|
|
NM_000303.3(PMM2):c.602A>G (p.Tyr201Cys)
|
|
|
NM_000303.3(PMM2):c.603T>C (p.Tyr201=)
|
|
|
NM_000303.3(PMM2):c.603T>G (p.Tyr201Ter)
|
rs1202400777
|
|
NM_000303.3(PMM2):c.609C>T (p.Thr203=)
|
|
|
NM_000303.3(PMM2):c.60G>A (p.Pro20=)
|
rs2141014167
|
|
NM_000303.3(PMM2):c.615T>C (p.Tyr205=)
|
|
|
NM_000303.3(PMM2):c.617del (p.Phe206fs)
|
rs1555449810
|
|
NM_000303.3(PMM2):c.618C>A (p.Phe206Leu)
|
rs1460691341
|
|
NM_000303.3(PMM2):c.618C>T (p.Phe206=)
|
rs1460691341
|
|
NM_000303.3(PMM2):c.61C>A (p.Arg21=)
|
rs758340382
|
|
NM_000303.3(PMM2):c.61C>G (p.Arg21Gly)
|
rs758340382
|
|
NM_000303.3(PMM2):c.61C>T (p.Arg21Trp)
|
rs758340382
|
|
NM_000303.3(PMM2):c.61dup (p.Arg21fs)
|
|
|
NM_000303.3(PMM2):c.621T>C (p.Phe207=)
|
|
|
NM_000303.3(PMM2):c.627C>G (p.Asp209Glu)
|
|
|
NM_000303.3(PMM2):c.631A>G (p.Thr211Ala)
|
|
|
NM_000303.3(PMM2):c.633T>C (p.Thr211=)
|
rs749542076
|
|
NM_000303.3(PMM2):c.639+19G>A
|
|
|
NM_000303.3(PMM2):c.639+1G>A
|
rs1057517183
|
|
NM_000303.3(PMM2):c.639+2T>C
|
|
|
NM_000303.3(PMM2):c.639+8G>C
|
|
|
NM_000303.3(PMM2):c.639+9A>G
|
|
|
NM_000303.3(PMM2):c.63G>A (p.Arg21=)
|
|
|
NM_000303.3(PMM2):c.640-12G>C
|
rs375325546
|
|
NM_000303.3(PMM2):c.640-13C>A
|
rs372181885
|
|
NM_000303.3(PMM2):c.640-16C>G
|
rs2141051377
|
|
NM_000303.3(PMM2):c.640-17A>C
|
|
|
NM_000303.3(PMM2):c.640-23A>G
|
rs981372486
|
|
NM_000303.3(PMM2):c.640-25_640-22dup
|
rs1555453228
|
|
NM_000303.3(PMM2):c.640-28C>G
|
rs181837170
|
|
NM_000303.3(PMM2):c.640-4C>G
|
|
|
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser)
|
rs1555453238
|
|
NM_000303.3(PMM2):c.640G>C (p.Gly214Arg)
|
|
|
NM_000303.3(PMM2):c.646A>G (p.Asn216Asp)
|
|
|
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile)
|
rs78290141
|
|
NM_000303.3(PMM2):c.64C>T (p.Gln22Ter)
|
|
|
NM_000303.3(PMM2):c.651C>A (p.Asp217Glu)
|
rs752614554
|
|
NM_000303.3(PMM2):c.651C>T (p.Asp217=)
|
rs752614554
|
|
NM_000303.3(PMM2):c.653A>T (p.His218Leu)
|
rs80338705
|
|
NM_000303.3(PMM2):c.653dup (p.His218fs)
|
rs1555453241
|
|
NM_000303.3(PMM2):c.66+10G>A
|
rs747786171
|
|
NM_000303.3(PMM2):c.66+10_66+12del
|
rs1213382634
|
|
NM_000303.3(PMM2):c.66+12C>T
|
|
|
NM_000303.3(PMM2):c.66+13C>T
|
|
|
NM_000303.3(PMM2):c.66+13_66+20del
|
rs1596481910
|
|
NM_000303.3(PMM2):c.66+17G>A
|
|
|
NM_000303.3(PMM2):c.66+1G>A
|
rs937726878
|
|
NM_000303.3(PMM2):c.66+1del
|
rs1555495965
|
|
NM_000303.3(PMM2):c.66+20C>G
|
|
|
NM_000303.3(PMM2):c.66+9C>A
|
|
|
NM_000303.3(PMM2):c.66+9C>T
|
|
|
NM_000303.3(PMM2):c.660C>G (p.Ile220Met)
|
|
|
NM_000303.3(PMM2):c.663C>T (p.Phe221=)
|
rs199927358
|
|
NM_000303.3(PMM2):c.666A>G (p.Thr222=)
|
rs770457654
|
|
NM_000303.3(PMM2):c.667G>A (p.Asp223Asn)
|
|
|
NM_000303.3(PMM2):c.669C>A (p.Asp223Glu)
|
|
|
NM_000303.3(PMM2):c.669C>G (p.Asp223Glu)
|
rs104894531
|
|
NM_000303.3(PMM2):c.669C>T (p.Asp223=)
|
rs104894531
|
|
NM_000303.3(PMM2):c.66_66+1delinsTA
|
|
|
NM_000303.3(PMM2):c.67-15T>C
|
|
|
NM_000303.3(PMM2):c.67-1G>C
|
|
|
NM_000303.3(PMM2):c.67-20T>C
|
|
|
NM_000303.3(PMM2):c.67-2A>G
|
|
|
NM_000303.3(PMM2):c.67-2A>T
|
rs1555448897
|
|
NM_000303.3(PMM2):c.67-6A>G
|
|
|
NM_000303.3(PMM2):c.67-8A>G
|
|
|
NM_000303.3(PMM2):c.671C>G (p.Pro224Arg)
|
rs778488908
|
|
NM_000303.3(PMM2):c.671C>T (p.Pro224Leu)
|
|
|
NM_000303.3(PMM2):c.672C>T (p.Pro224=)
|
rs2141051463
|
|
NM_000303.3(PMM2):c.677C>G (p.Thr226Ser)
|
rs80338706
|
|
NM_000303.3(PMM2):c.677C>T (p.Thr226Ile)
|
|
|
NM_000303.3(PMM2):c.678C>T (p.Thr226=)
|
rs1480238805
|
|
NM_000303.3(PMM2):c.682G>A (p.Gly228Ser)
|
|
|
NM_000303.3(PMM2):c.682G>C (p.Gly228Arg)
|
|
|
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys)
|
rs558826439
|
|
NM_000303.3(PMM2):c.687C>A (p.Tyr229Ter)
|
|
|
NM_000303.3(PMM2):c.687C>G (p.Tyr229Ter)
|
rs148759949
|
|
NM_000303.3(PMM2):c.687C>T (p.Tyr229=)
|
|
|
NM_000303.3(PMM2):c.691G>C (p.Val231Leu)
|
|
|
NM_000303.3(PMM2):c.691G>T (p.Val231Leu)
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NM_000303.3(PMM2):c.693G>T (p.Val231=)
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NM_000303.3(PMM2):c.696A>G (p.Thr232=)
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rs2141051514
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NM_000303.3(PMM2):c.696del (p.Ala233fs)
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rs2141051516
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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.705G>A (p.Glu235=)
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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.708C>T (p.Asp236=)
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rs752495420
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NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)
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rs80338708
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NM_000303.3(PMM2):c.710C>T (p.Thr237Met)
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rs80338708
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NM_000303.3(PMM2):c.711G>C (p.Thr237=)
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NM_000303.3(PMM2):c.713G>C (p.Arg238Pro)
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rs151319324
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NM_000303.3(PMM2):c.714C>G (p.Arg238=)
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rs141562154
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NM_000303.3(PMM2):c.715A>T (p.Arg239Trp)
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NM_000303.3(PMM2):c.716G>C (p.Arg239Thr)
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NM_000303.3(PMM2):c.717G>C (p.Arg239Ser)
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NM_000303.3(PMM2):c.717G>T (p.Arg239Ser)
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NM_000303.3(PMM2):c.720C>T (p.Ile240=)
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NM_000303.3(PMM2):c.721T>C (p.Cys241Arg)
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NM_000303.3(PMM2):c.723T>G (p.Cys241Trp)
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NM_000303.3(PMM2):c.728T>C (p.Leu243Pro)
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rs2060937980
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NM_000303.3(PMM2):c.72del (p.Thr25fs)
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rs2060617981
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NM_000303.3(PMM2):c.730C>T (p.Leu244=)
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rs1205209003
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NM_000303.3(PMM2):c.732G>C (p.Leu244=)
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rs1164763496
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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.73dup (p.Thr25fs)
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rs2141016934
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NM_000303.3(PMM2):c.75C>G (p.Thr25=)
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rs1172729028
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NM_000303.3(PMM2):c.76A>G (p.Lys26Glu)
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NM_000303.3(PMM2):c.76A>T (p.Lys26Ter)
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NM_000303.3(PMM2):c.78A>G (p.Lys26=)
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NM_000303.3(PMM2):c.79G>T (p.Glu27Ter)
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NM_000303.3(PMM2):c.93C>T (p.Phe31=)
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rs61730638
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NM_000303.3(PMM2):c.94C>G (p.Leu32Val)
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NM_000303.3(PMM2):c.94C>T (p.Leu32=)
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NM_000303.3(PMM2):c.95_96delinsGC (p.Leu32Arg)
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rs398123312
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NM_000303.3(PMM2):c.96A>G (p.Leu32=)
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NM_000303.3(PMM2):c.96A>T (p.Leu32=)
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NM_000303.3(PMM2):c.9G>C (p.Ala3=)
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rs2060588329
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