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.*17G>A
|
rs9936097
|
0.00905
|
NM_000303.3(PMM2):c.*915T>A
|
rs114954775
|
0.00441
|
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.366C>T (p.Phe122=)
|
rs145714866
|
0.00027
|
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu)
|
rs201556985
|
0.00019
|
NM_000303.3(PMM2):c.634A>G (p.Met212Val)
|
rs3743808
|
0.00014
|
NM_000303.3(PMM2):c.513G>A (p.Thr171=)
|
rs371399381
|
0.00008
|
NM_000303.3(PMM2):c.339G>A (p.Pro113=)
|
rs149849259
|
0.00006
|
NM_000303.3(PMM2):c.435C>T (p.Tyr145=)
|
rs550231531
|
0.00006
|
NM_000303.3(PMM2):c.640-12G>A
|
rs375325546
|
0.00006
|
NM_000303.3(PMM2):c.*26C>T
|
rs138528126
|
0.00005
|
NM_000303.3(PMM2):c.738C>G (p.Ser246=)
|
rs373888957
|
0.00005
|
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.384C>T (p.Asn128=)
|
rs147068457
|
0.00004
|
NM_000303.3(PMM2):c.639+10G>A
|
rs200593954
|
0.00004
|
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.573C>T (p.Tyr191=)
|
rs201440361
|
0.00003
|
NM_000303.3(PMM2):c.597C>T (p.Asp199=)
|
rs376412367
|
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.15C>A (p.Gly5=)
|
rs1277297216
|
0.00002
|
NM_000303.3(PMM2):c.524-16C>T
|
rs748427371
|
0.00002
|
NM_000303.3(PMM2):c.711G>A (p.Thr237=)
|
rs753794337
|
0.00002
|
NM_000303.3(PMM2):c.111G>A (p.Gln37=)
|
rs762773046
|
0.00001
|
NM_000303.3(PMM2):c.126A>G (p.Gly42=)
|
rs766984518
|
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.159G>A (p.Gln53=)
|
rs1481859853
|
0.00001
|
NM_000303.3(PMM2):c.179-4G>T
|
rs776262869
|
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.27C>T (p.Cys9=)
|
rs1057516943
|
0.00001
|
NM_000303.3(PMM2):c.306C>T (p.Tyr102=)
|
rs184769421
|
0.00001
|
NM_000303.3(PMM2):c.312G>A (p.Leu104=)
|
rs773943361
|
0.00001
|
NM_000303.3(PMM2):c.390C>T (p.Ser130=)
|
rs763944822
|
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.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.549T>C (p.Phe183=)
|
rs1426754260
|
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.648T>C (p.Asn216=)
|
rs139236770
|
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.*1224C>A
|
rs74008087
|
|
NM_000303.3(PMM2):c.105G>A (p.Leu35=)
|
|
|
NM_000303.3(PMM2):c.123C>T (p.Ile41=)
|
rs751463681
|
|
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.135C>A (p.Gly45=)
|
rs748980961
|
|
NM_000303.3(PMM2):c.156G>A (p.Val52=)
|
|
|
NM_000303.3(PMM2):c.156G>T (p.Val52=)
|
rs2141017027
|
|
NM_000303.3(PMM2):c.15C>G (p.Gly5=)
|
|
|
NM_000303.3(PMM2):c.15C>T (p.Gly5=)
|
|
|
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.178+11G>C
|
|
|
NM_000303.3(PMM2):c.178+20T>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.179-20T>G
|
|
|
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.18A>G (p.Pro6=)
|
|
|
NM_000303.3(PMM2):c.195T>C (p.Asp65=)
|
|
|
NM_000303.3(PMM2):c.207A>G (p.Pro69=)
|
rs1053902842
|
|
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.225A>G (p.Ala75=)
|
|
|
NM_000303.3(PMM2):c.234T>C (p.Asp78=)
|
rs1186149338
|
|
NM_000303.3(PMM2):c.243C>T (p.Leu81=)
|
rs1169352353
|
|
NM_000303.3(PMM2):c.244T>C (p.Leu82=)
|
rs1399590258
|
|
NM_000303.3(PMM2):c.255+17C>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.256-5T>C
|
rs1430962288
|
|
NM_000303.3(PMM2):c.256-6A>C
|
|
|
NM_000303.3(PMM2):c.256-7C>T
|
rs561075568
|
|
NM_000303.3(PMM2):c.264A>G (p.Gln88=)
|
rs376597290
|
|
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.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.294T>C (p.Asp98=)
|
|
|
NM_000303.3(PMM2):c.295T>C (p.Leu99=)
|
|
|
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.318C>T (p.Tyr106=)
|
rs930344709
|
|
NM_000303.3(PMM2):c.324G>C (p.Ala108=)
|
|
|
NM_000303.3(PMM2):c.336C>G (p.Leu112=)
|
|
|
NM_000303.3(PMM2):c.339G>C (p.Pro113=)
|
|
|
NM_000303.3(PMM2):c.339G>T (p.Pro113=)
|
rs149849259
|
|
NM_000303.3(PMM2):c.345G>A (p.Lys115=)
|
rs2141020046
|
|
NM_000303.3(PMM2):c.347+15A>C
|
rs751222355
|
|
NM_000303.3(PMM2):c.347+17C>T
|
|
|
NM_000303.3(PMM2):c.347+20A>G
|
|
|
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.348-3del
|
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.354T>C (p.Thr118=)
|
rs2141022957
|
|
NM_000303.3(PMM2):c.357C>T (p.Phe119=)
|
rs80338701
|
|
NM_000303.3(PMM2):c.375G>A (p.Gly125=)
|
|
|
NM_000303.3(PMM2):c.375G>T (p.Gly125=)
|
|
|
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.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>T (p.Ser135=)
|
|
|
NM_000303.3(PMM2):c.441C>G (p.Leu147=)
|
rs146990448
|
|
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+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.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.448-23_448-18del
|
rs747968957
|
|
NM_000303.3(PMM2):c.45G>C (p.Gly15=)
|
rs2141014144
|
|
NM_000303.3(PMM2):c.477A>G (p.Ala159=)
|
|
|
NM_000303.3(PMM2):c.483A>G (p.Leu161=)
|
|
|
NM_000303.3(PMM2):c.483A>T (p.Leu161=)
|
rs1433032795
|
|
NM_000303.3(PMM2):c.486G>T (p.Arg162=)
|
|
|
NM_000303.3(PMM2):c.48C>A (p.Thr16=)
|
|
|
NM_000303.3(PMM2):c.507C>T (p.Gly169=)
|
rs2141023382
|
|
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.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.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.524-4G>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.528C>T (p.Gly176=)
|
|
|
NM_000303.3(PMM2):c.531G>A (p.Gln177=)
|
|
|
NM_000303.3(PMM2):c.534C>T (p.Ile178=)
|
|
|
NM_000303.3(PMM2):c.537C>T (p.Ser179=)
|
|
|
NM_000303.3(PMM2):c.54C>T (p.Thr18=)
|
|
|
NM_000303.3(PMM2):c.552T>C (p.Pro184=)
|
rs560182098
|
|
NM_000303.3(PMM2):c.558A>G (p.Gly186=)
|
|
|
NM_000303.3(PMM2):c.564C>T (p.Asp188=)
|
rs2060686207
|
|
NM_000303.3(PMM2):c.567G>A (p.Lys189=)
|
|
|
NM_000303.3(PMM2):c.568A>C (p.Arg190=)
|
|
|
NM_000303.3(PMM2):c.585T>C (p.His195=)
|
rs2141024274
|
|
NM_000303.3(PMM2):c.600T>A (p.Gly200=)
|
|
|
NM_000303.3(PMM2):c.603T>C (p.Tyr201=)
|
|
|
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.618C>T (p.Phe206=)
|
rs1460691341
|
|
NM_000303.3(PMM2):c.61C>A (p.Arg21=)
|
rs758340382
|
|
NM_000303.3(PMM2):c.621T>C (p.Phe207=)
|
|
|
NM_000303.3(PMM2):c.633T>C (p.Thr211=)
|
rs749542076
|
|
NM_000303.3(PMM2):c.639+19G>A
|
|
|
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.640-17A>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.640-4C>G
|
|
|
NM_000303.3(PMM2):c.651C>T (p.Asp217=)
|
rs752614554
|
|
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+20C>G
|
|
|
NM_000303.3(PMM2):c.66+9C>A
|
|
|
NM_000303.3(PMM2):c.66+9C>T
|
|
|
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.669C>T (p.Asp223=)
|
rs104894531
|
|
NM_000303.3(PMM2):c.67-15T>C
|
|
|
NM_000303.3(PMM2):c.67-20T>C
|
|
|
NM_000303.3(PMM2):c.67-8A>G
|
|
|
NM_000303.3(PMM2):c.672C>T (p.Pro224=)
|
rs2141051463
|
|
NM_000303.3(PMM2):c.678C>T (p.Thr226=)
|
rs1480238805
|
|
NM_000303.3(PMM2):c.687C>T (p.Tyr229=)
|
|
|
NM_000303.3(PMM2):c.693G>T (p.Val231=)
|
|
|
NM_000303.3(PMM2):c.696A>G (p.Thr232=)
|
rs2141051514
|
|
NM_000303.3(PMM2):c.705G>A (p.Glu235=)
|
|
|
NM_000303.3(PMM2):c.708C>T (p.Asp236=)
|
rs752495420
|
|
NM_000303.3(PMM2):c.711G>C (p.Thr237=)
|
|
|
NM_000303.3(PMM2):c.714C>G (p.Arg238=)
|
rs141562154
|
|
NM_000303.3(PMM2):c.720C>T (p.Ile240=)
|
|
|
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.75C>G (p.Thr25=)
|
rs1172729028
|
|
NM_000303.3(PMM2):c.78A>G (p.Lys26=)
|
|
|
NM_000303.3(PMM2):c.94C>T (p.Leu32=)
|
|
|
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
|
|