NM_000303.3(PMM2):c.67-300A>T
|
rs8046046
|
0.89511
|
NM_000303.3(PMM2):c.348-58_348-56dup
|
rs1799772
|
0.87127
|
NM_000303.3(PMM2):c.447+187A>C
|
rs4985001
|
0.85107
|
NM_000303.3(PMM2):c.447+147A>G
|
rs4985041
|
0.85045
|
NM_000303.3(PMM2):c.178+299G>C
|
rs2304470
|
0.47633
|
NM_000303.3(PMM2):c.178+327G>A
|
rs2304469
|
0.43498
|
NM_000303.3(PMM2):c.524-275C>T
|
rs3743809
|
0.41654
|
NM_000303.3(PMM2):c.*252C>A
|
rs2075828
|
0.41543
|
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.178+142C>A
|
rs2304471
|
0.18660
|
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.179-166A>G
|
rs8053440
|
0.15215
|
NM_000303.3(PMM2):c.*96G>C
|
rs11554040
|
0.14272
|
NM_000303.3(PMM2):c.66+180G>C
|
rs73501483
|
0.09256
|
NM_000303.3(PMM2):c.67-120A>T
|
rs12446822
|
0.08792
|
NM_000303.3(PMM2):c.255+111A>T
|
rs77026919
|
0.06244
|
NM_000303.3(PMM2):c.347+172C>T
|
rs17566708
|
0.04934
|
NM_000303.3(PMM2):c.348-101C>T
|
rs76295751
|
0.02945
|
NM_000303.3(PMM2):c.255+272C>T
|
rs113451497
|
0.02715
|
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala)
|
rs34258285
|
0.02088
|
NM_000303.3(PMM2):c.640-15215C>T
|
rs143727592
|
0.01564
|
NM_000303.3(PMM2):c.640-15672C>T
|
rs114648316
|
0.01560
|
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.255+153A>G
|
rs79544149
|
0.00770
|
NM_000303.3(PMM2):c.639+30T>C
|
rs76786263
|
0.00700
|
NM_000303.3(PMM2):c.67-119T>A
|
rs145725429
|
0.00682
|
NM_000303.3(PMM2):c.639+57A>G
|
rs113688413
|
0.00657
|
NM_000303.3(PMM2):c.640-46G>A
|
rs113866602
|
0.00632
|
NM_000303.3(PMM2):c.523+52T>A
|
rs112454015
|
0.00612
|
NM_000303.3(PMM2):c.*368C>G
|
rs72766379
|
0.00580
|
NM_000303.3(PMM2):c.256-133G>A
|
rs8060683
|
0.00536
|
NM_000303.3(PMM2):c.447+22T>A
|
rs137862339
|
0.00475
|
NM_000303.3(PMM2):c.640-15606C>T
|
rs190685535
|
0.00440
|
NM_000303.3(PMM2):c.524-141A>C
|
rs151251334
|
0.00434
|
NM_000303.3(PMM2):c.639+70C>G
|
rs150243626
|
0.00408
|
NM_000303.3(PMM2):c.347+40G>A
|
rs142123453
|
0.00385
|
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.178+21T>G
|
rs149626737
|
0.00255
|
NM_000303.3(PMM2):c.640-13C>T
|
rs372181885
|
0.00073
|
NM_000303.3(PMM2):c.524-30G>A
|
rs189031794
|
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.713G>A (p.Arg238His)
|
rs151319324
|
0.00035
|
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser)
|
rs80338709
|
0.00027
|
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu)
|
rs201556985
|
0.00019
|
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)
|
rs141498002
|
0.00017
|
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.149A>T (p.Glu50Val)
|
rs182336960
|
0.00012
|
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.255+2T>C
|
rs139716296
|
0.00007
|
NM_000303.3(PMM2):c.339G>A (p.Pro113=)
|
rs149849259
|
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.347+5G>A
|
rs1373876757
|
0.00005
|
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu)
|
rs749720760
|
0.00005
|
NM_000303.3(PMM2):c.24del (p.Cys9fs)
|
rs768021123
|
0.00004
|
NM_000303.3(PMM2):c.421C>T (p.Arg141Cys)
|
rs746610168
|
0.00004
|
NM_000303.3(PMM2):c.691G>A (p.Val231Met)
|
rs80338707
|
0.00004
|
NM_000303.3(PMM2):c.200T>G (p.Val67Gly)
|
rs751986971
|
0.00003
|
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu)
|
rs80338701
|
0.00003
|
NM_000303.3(PMM2):c.445A>G (p.Lys149Glu)
|
rs141808258
|
0.00003
|
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.-1dup (p.Met1fs)
|
rs1348674721
|
0.00001
|
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg)
|
rs755402538
|
0.00001
|
NM_000303.3(PMM2):c.178G>T (p.Val60Leu)
|
rs759513930
|
0.00001
|
NM_000303.3(PMM2):c.193G>T (p.Asp65Tyr)
|
rs104894527
|
0.00001
|
NM_000303.3(PMM2):c.255G>A (p.Gln85=)
|
rs115344041
|
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.323C>T (p.Ala108Val)
|
rs200503569
|
0.00001
|
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu)
|
rs80338700
|
0.00001
|
NM_000303.3(PMM2):c.389C>G (p.Ser130Cys)
|
rs886044305
|
0.00001
|
NM_000303.3(PMM2):c.408C>T (p.Cys136=)
|
rs371694616
|
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.53C>G (p.Thr18Ser)
|
rs760265100
|
0.00001
|
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly)
|
rs80338704
|
0.00001
|
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala)
|
rs398123309
|
0.00001
|
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser)
|
rs78290141
|
0.00001
|
NM_000303.3(PMM2):c.97C>T (p.Gln33Ter)
|
rs149530060
|
0.00001
|
GRCh37/hg19 16p13.2(chr16:8903059-8933005)x1
|
|
|
NM_000303.3(PMM2):c.-167G>T
|
rs1596481676
|
|
NM_000303.3(PMM2):c.140C>T (p.Ser47Leu)
|
|
|
NM_000303.3(PMM2):c.157C>T (p.Gln53Ter)
|
rs1057520708
|
|
NM_000303.3(PMM2):c.160dup (p.Glu54fs)
|
rs753122961
|
|
NM_000303.3(PMM2):c.179-15dup
|
rs145496357
|
|
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser)
|
rs769648248
|
|
NM_000303.3(PMM2):c.235G>C (p.Gly79Arg)
|
|
|
NM_000303.3(PMM2):c.255+278G>A
|
rs140181592
|
|
NM_000303.3(PMM2):c.324del (p.Ile110fs)
|
rs1555449314
|
|
NM_000303.3(PMM2):c.337C>A (p.Pro113Thr)
|
rs765433263
|
|
NM_000303.3(PMM2):c.337C>T (p.Pro113Ser)
|
rs765433263
|
|
NM_000303.3(PMM2):c.352A>G (p.Thr118Ala)
|
rs886043289
|
|
NM_000303.3(PMM2):c.385G>A (p.Val129Met)
|
rs104894525
|
|
NM_000303.3(PMM2):c.392del (p.Pro131fs)
|
rs1555449607
|
|
NM_000303.3(PMM2):c.399A>G (p.Gly133=)
|
rs886043741
|
|
NM_000303.3(PMM2):c.40G>A (p.Asp14Asn)
|
rs1473030550
|
|
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys)
|
rs80338703
|
|
NM_000303.3(PMM2):c.441C>G (p.Leu147=)
|
rs146990448
|
|
NM_000303.3(PMM2):c.447+19T>C
|
rs11074924
|
|
NM_000303.3(PMM2):c.448-1_448del
|
rs1414007551
|
|
NM_000303.3(PMM2):c.523+139A>G
|
rs7194925
|
|
NM_000303.3(PMM2):c.524-309C>A
|
rs3826198
|
|
NM_000303.3(PMM2):c.526G>A (p.Gly176Ser)
|
rs1156500366
|
|
NM_000303.3(PMM2):c.527G>A (p.Gly176Asp)
|
rs940938678
|
|
NM_000303.3(PMM2):c.566_571delinsGTGGATTTCC (p.Lys189fs)
|
rs2060686245
|
|
NM_000303.3(PMM2):c.584A>G (p.His195Arg)
|
rs1596489887
|
|
NM_000303.3(PMM2):c.603T>C (p.Tyr201=)
|
|
|
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.639+182G>T
|
rs9924186
|
|
NM_000303.3(PMM2):c.639+44C>T
|
rs147688858
|
|
NM_000303.3(PMM2):c.640-15556A>C
|
rs113832517
|
|
NM_000303.3(PMM2):c.640-15802C>A
|
rs75594386
|
|
NM_000303.3(PMM2):c.640-280dup
|
rs3833068
|
|
NM_000303.3(PMM2):c.640-28C>G
|
rs181837170
|
|
NM_000303.3(PMM2):c.640-330C>A
|
rs200366327
|
|
NM_000303.3(PMM2):c.640-331dup
|
rs34609525
|
|
NM_000303.3(PMM2):c.640-332_640-331dup
|
rs34609525
|
|
NM_000303.3(PMM2):c.640-333_640-331dup
|
rs34609525
|
|
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile)
|
rs78290141
|
|
NM_000303.3(PMM2):c.652C>G (p.His218Asp)
|
rs398123310
|
|
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys)
|
rs558826439
|
|
NM_000303.3(PMM2):c.686A>C (p.Tyr229Ser)
|
rs398123311
|
|
NM_000303.3(PMM2):c.693G>A (p.Val231=)
|
rs761946981
|
|
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.8C>T (p.Ala3Val)
|
|
|
NM_000303.3(PMM2):c.93C>T (p.Phe31=)
|
rs61730638
|
|
NM_000303.3(PMM2):c.95_96delinsGC (p.Leu32Arg)
|
rs398123312
|
|