ClinVar Miner

List of variants in gene PMM2 studied for PMM2-congenital disorder of glycosylation

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 667
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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)
NM_000303.3(PMM2):c.693G>T (p.Val231=)
NM_000303.3(PMM2):c.696A>G (p.Thr232=) rs2141051514
NM_000303.3(PMM2):c.696del (p.Ala233fs) rs2141051516
NM_000303.3(PMM2):c.697G>A (p.Ala233Thr)
NM_000303.3(PMM2):c.701C>T (p.Pro234Leu)
NM_000303.3(PMM2):c.703G>C (p.Glu235Gln)
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter) rs763091085
NM_000303.3(PMM2):c.705G>A (p.Glu235=)
NM_000303.3(PMM2):c.706G>A (p.Asp236Asn)
NM_000303.3(PMM2):c.708C>G (p.Asp236Glu)
NM_000303.3(PMM2):c.708C>T (p.Asp236=) rs752495420
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000303.3(PMM2):c.711G>C (p.Thr237=)
NM_000303.3(PMM2):c.713G>C (p.Arg238Pro) rs151319324
NM_000303.3(PMM2):c.714C>G (p.Arg238=) rs141562154
NM_000303.3(PMM2):c.715A>T (p.Arg239Trp)
NM_000303.3(PMM2):c.716G>C (p.Arg239Thr)
NM_000303.3(PMM2):c.717G>C (p.Arg239Ser)
NM_000303.3(PMM2):c.717G>T (p.Arg239Ser)
NM_000303.3(PMM2):c.720C>T (p.Ile240=)
NM_000303.3(PMM2):c.721T>C (p.Cys241Arg)
NM_000303.3(PMM2):c.723T>G (p.Cys241Trp)
NM_000303.3(PMM2):c.728T>C (p.Leu243Pro) rs2060937980
NM_000303.3(PMM2):c.72del (p.Thr25fs) rs2060617981
NM_000303.3(PMM2):c.730C>T (p.Leu244=) rs1205209003
NM_000303.3(PMM2):c.732G>C (p.Leu244=) rs1164763496
NM_000303.3(PMM2):c.735C>G (p.Phe245Leu)
NM_000303.3(PMM2):c.737C>A (p.Ser246Tyr) rs769177253
NM_000303.3(PMM2):c.737_739del (p.Ser246del) rs764817746
NM_000303.3(PMM2):c.739T>C (p.Ter247Gln) rs1555453271
NM_000303.3(PMM2):c.73dup (p.Thr25fs) rs2141016934
NM_000303.3(PMM2):c.75C>G (p.Thr25=) rs1172729028
NM_000303.3(PMM2):c.76A>G (p.Lys26Glu)
NM_000303.3(PMM2):c.76A>T (p.Lys26Ter)
NM_000303.3(PMM2):c.78A>G (p.Lys26=)
NM_000303.3(PMM2):c.79G>T (p.Glu27Ter)
NM_000303.3(PMM2):c.93C>T (p.Phe31=) rs61730638
NM_000303.3(PMM2):c.94C>G (p.Leu32Val)
NM_000303.3(PMM2):c.94C>T (p.Leu32=)
NM_000303.3(PMM2):c.95_96delinsGC (p.Leu32Arg) rs398123312
NM_000303.3(PMM2):c.96A>G (p.Leu32=)
NM_000303.3(PMM2):c.96A>T (p.Leu32=)
NM_000303.3(PMM2):c.9G>C (p.Ala3=) rs2060588329

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