NM_013339.4(ALG6):c.911C>T (p.Ser304Phe)
|
rs4630153
|
0.75355
|
NM_002435.3(MPI):c.1131A>G (p.Val377=)
|
rs1130741
|
0.45813
|
NM_013339.4(ALG6):c.981T>C (p.Phe327=)
|
rs75451833
|
0.04164
|
NM_013339.4(ALG6):c.391T>C (p.Tyr131His)
|
rs35383149
|
0.02935
|
NM_013339.4(ALG6):c.726C>T (p.Phe242=)
|
rs59848367
|
0.02294
|
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala)
|
rs34258285
|
0.02088
|
NM_002435.3(MPI):c.684C>T (p.Asn228=)
|
rs139190144
|
0.01985
|
NM_013339.4(ALG6):c.678G>T (p.Lys226Asn)
|
rs35604168
|
0.01480
|
NM_013339.4(ALG6):c.1357C>G (p.Leu453Val)
|
rs41285372
|
0.01295
|
NM_000303.3(PMM2):c.324G>A (p.Ala108=)
|
rs62031146
|
0.01239
|
NM_002435.3(MPI):c.762C>T (p.Ile254=)
|
rs12440159
|
0.00855
|
NM_013339.4(ALG6):c.1323T>C (p.Tyr441=)
|
rs116660078
|
0.00791
|
NM_000303.3(PMM2):c.640-46G>A
|
rs113866602
|
0.00632
|
NM_002435.3(MPI):c.982C>T (p.Arg328Trp)
|
rs117089191
|
0.00577
|
NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
NM_002435.3(MPI):c.303C>T (p.Leu101=)
|
rs139228075
|
0.00240
|
NM_002435.3(MPI):c.414G>A (p.Met138Ile)
|
rs150217523
|
0.00227
|
NM_013339.4(ALG6):c.1398A>T (p.Leu466=)
|
rs140158304
|
0.00167
|
NM_002435.3(MPI):c.10C>T (p.Pro4Ser)
|
rs143982014
|
0.00133
|
NM_002435.3(MPI):c.1049C>T (p.Thr350Met)
|
rs116933453
|
0.00095
|
NM_013339.4(ALG6):c.257+5G>A
|
rs199682486
|
0.00065
|
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_002435.3(MPI):c.214A>C (p.Ser72Arg)
|
rs146699267
|
0.00031
|
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_002435.3(MPI):c.1050G>A (p.Thr350=)
|
rs145431554
|
0.00026
|
NM_002435.3(MPI):c.908T>C (p.Ile303Thr)
|
rs139866632
|
0.00024
|
NM_002435.3(MPI):c.573C>T (p.Ala191=)
|
rs200903491
|
0.00022
|
NM_013339.4(ALG6):c.882T>C (p.Arg294=)
|
rs145894044
|
0.00020
|
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu)
|
rs201556985
|
0.00019
|
NM_002435.3(MPI):c.1178G>C (p.Gly393Ala)
|
rs201815588
|
0.00019
|
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)
|
rs141498002
|
0.00017
|
NM_002435.3(MPI):c.1125G>A (p.Gly375=)
|
rs552854858
|
0.00016
|
NM_000303.3(PMM2):c.*10G>A
|
rs200930493
|
0.00015
|
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_002435.3(MPI):c.977C>G (p.Pro326Arg)
|
rs199956743
|
0.00014
|
NM_000303.3(PMM2):c.149A>T (p.Glu50Val)
|
rs182336960
|
0.00012
|
NM_013339.4(ALG6):c.1361C>T (p.Thr454Met)
|
rs138890428
|
0.00012
|
NM_002435.3(MPI):c.378G>A (p.Pro126=)
|
rs752948071
|
0.00011
|
NM_013339.4(ALG6):c.1032T>C (p.His344=)
|
rs146265933
|
0.00011
|
NM_000303.3(PMM2):c.441C>T (p.Leu147=)
|
rs146990448
|
0.00010
|
NM_002435.3(MPI):c.662C>G (p.Ser221Cys)
|
rs760911969
|
0.00010
|
NM_013339.4(ALG6):c.482A>G (p.Tyr161Cys)
|
rs201354339
|
0.00010
|
NM_002435.3(MPI):c.167G>A (p.Arg56Gln)
|
rs200452019
|
0.00009
|
NM_013339.4(ALG6):c.915G>A (p.Thr305=)
|
rs112769742
|
0.00008
|
NM_013339.4(ALG6):c.96G>A (p.Pro32=)
|
rs149990175
|
0.00008
|
NM_000303.3(PMM2):c.255+2T>C
|
rs139716296
|
0.00007
|
NM_013339.4(ALG6):c.527G>T (p.Trp176Leu)
|
rs773699560
|
0.00007
|
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.487A>C (p.Lys163Gln)
|
rs138383066
|
0.00006
|
NM_002435.3(MPI):c.1269G>A (p.Leu423=)
|
rs371664469
|
0.00006
|
NM_002435.3(MPI):c.390C>T (p.Pro130=)
|
rs140961968
|
0.00006
|
NM_002435.3(MPI):c.708G>A (p.Glu236=)
|
rs530537706
|
0.00006
|
NM_013339.4(ALG6):c.1314T>C (p.Ile438=)
|
rs146939069
|
0.00006
|
NM_013339.4(ALG6):c.665G>A (p.Gly222Asp)
|
rs532466353
|
0.00006
|
NM_013339.4(ALG6):c.816+10A>T
|
rs529032571
|
0.00006
|
NM_000303.3(PMM2):c.524-5G>A
|
rs373584132
|
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_002435.3(MPI):c.132G>A (p.Lys44=)
|
rs778577329
|
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.640-15479C>T
|
rs1258107584
|
0.00004
|
NM_000303.3(PMM2):c.691G>A (p.Val231Met)
|
rs80338707
|
0.00004
|
NM_002435.3(MPI):c.1232C>T (p.Pro411Leu)
|
rs147817691
|
0.00004
|
NM_013339.4(ALG6):c.167+7T>C
|
rs374146302
|
0.00004
|
NM_013339.4(ALG6):c.618C>T (p.His206=)
|
rs374336458
|
0.00004
|
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu)
|
rs80338701
|
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_002435.3(MPI):c.1193T>C (p.Ile398Thr)
|
rs369326210
|
0.00003
|
NM_002435.3(MPI):c.69C>T (p.Ser23=)
|
rs140124850
|
0.00003
|
NM_013339.4(ALG6):c.1308C>T (p.Ser436=)
|
rs1271255207
|
0.00003
|
NM_013339.4(ALG6):c.881G>A (p.Arg294His)
|
rs772248256
|
0.00003
|
NM_013339.4(ALG6):c.902+1G>A
|
rs1036516188
|
0.00003
|
NM_013339.4(ALG6):c.998C>T (p.Ala333Val)
|
rs121908443
|
0.00003
|
NM_000303.3(PMM2):c.104T>A (p.Leu35Ter)
|
rs1555448899
|
0.00002
|
NM_000303.3(PMM2):c.178+1G>A
|
rs935962174
|
0.00002
|
NM_000303.3(PMM2):c.367C>T (p.Arg123Ter)
|
rs191295403
|
0.00002
|
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)
|
rs104894526
|
0.00002
|
NM_000303.3(PMM2):c.680T>C (p.Met227Thr)
|
rs772410793
|
0.00002
|
NM_002435.3(MPI):c.1233G>A (p.Pro411=)
|
rs746867428
|
0.00002
|
NM_002435.3(MPI):c.487+2del
|
rs1057516550
|
0.00002
|
NM_002435.3(MPI):c.739G>A (p.Gly247Ser)
|
rs557366025
|
0.00002
|
NM_013339.4(ALG6):c.54A>G (p.Arg18=)
|
rs373800951
|
0.00002
|
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg)
|
rs755402538
|
0.00001
|
NM_000303.3(PMM2):c.14G>A (p.Gly5Asp)
|
rs773813007
|
0.00001
|
NM_000303.3(PMM2):c.256-1G>C
|
rs757394782
|
0.00001
|
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu)
|
rs80338700
|
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.52A>C (p.Thr18Pro)
|
rs757040733
|
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.620T>C (p.Phe207Ser)
|
rs532870929
|
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
|
NM_002435.3(MPI):c.1122G>C (p.Gln374His)
|
rs753458883
|
0.00001
|
NM_002435.3(MPI):c.1156A>T (p.Thr386Ser)
|
rs769768397
|
0.00001
|
NM_002435.3(MPI):c.1242G>A (p.Leu414=)
|
rs780975089
|
0.00001
|
NM_002435.3(MPI):c.285C>T (p.Pro95=)
|
rs1001297444
|
0.00001
|
NM_002435.3(MPI):c.628G>A (p.Val210Met)
|
rs781158335
|
0.00001
|
NM_002435.3(MPI):c.746T>C (p.Ile249Thr)
|
rs201676072
|
0.00001
|
NM_002435.3(MPI):c.7G>A (p.Ala3Thr)
|
rs770421382
|
0.00001
|
NM_002435.3(MPI):c.855G>A (p.Glu285=)
|
rs769504650
|
0.00001
|
NM_002435.3(MPI):c.992A>C (p.Glu331Ala)
|
rs1223295146
|
0.00001
|
NM_013339.4(ALG6):c.1341C>T (p.Val447=)
|
rs777326636
|
0.00001
|
NM_013339.4(ALG6):c.1365G>A (p.Leu455=)
|
rs772957444
|
0.00001
|
NM_013339.4(ALG6):c.155C>T (p.Pro52Leu)
|
rs201074540
|
0.00001
|
NM_013339.4(ALG6):c.302G>A (p.Arg101His)
|
rs760245924
|
0.00001
|
NM_013339.4(ALG6):c.37A>C (p.Ile13Leu)
|
rs1407217511
|
0.00001
|
NM_013339.4(ALG6):c.574G>A (p.Ala192Thr)
|
rs878890161
|
0.00001
|
NM_013339.4(ALG6):c.671A>G (p.Lys224Arg)
|
rs140879997
|
0.00001
|
NM_000303.3(PMM2):c.-167G>T
|
rs1596481676
|
|
NM_000303.3(PMM2):c.129G>A (p.Val43=)
|
rs777608895
|
|
NM_000303.3(PMM2):c.131T>C (p.Val44Ala)
|
rs104894534
|
|
NM_000303.3(PMM2):c.179-15dup
|
rs145496357
|
|
NM_000303.3(PMM2):c.1A>G (p.Met1Val)
|
rs786204591
|
|
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser)
|
rs769648248
|
|
NM_000303.3(PMM2):c.385G>A (p.Val129Met)
|
rs104894525
|
|
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys)
|
rs80338703
|
|
NM_000303.3(PMM2):c.457A>G (p.Ile153Val)
|
rs1596489094
|
|
NM_000303.3(PMM2):c.458_462del (p.Ile153fs)
|
rs774738702
|
|
NM_000303.3(PMM2):c.59C>G (p.Pro20Arg)
|
rs2060588870
|
|
NM_000303.3(PMM2):c.603T>G (p.Tyr201Ter)
|
rs1202400777
|
|
NM_000303.3(PMM2):c.640-28C>G
|
rs181837170
|
|
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile)
|
rs78290141
|
|
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys)
|
rs558826439
|
|
NM_000303.3(PMM2):c.687C>G (p.Tyr229Ter)
|
rs148759949
|
|
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.93C>T (p.Phe31=)
|
rs61730638
|
|
NM_002435.3(MPI):c.1086G>A (p.Leu362=)
|
rs905233208
|
|
NM_002435.3(MPI):c.1087del (p.Ala363fs)
|
rs2141209567
|
|
NM_002435.3(MPI):c.166dup (p.Arg56fs)
|
rs786204593
|
|
NM_002435.3(MPI):c.455G>C (p.Arg152Pro)
|
rs766458792
|
|
NM_002435.3(MPI):c.527C>T (p.Ala176Val)
|
rs1256364766
|
|
NM_002435.3(MPI):c.670+9A>G
|
rs7495739
|
|
NM_002435.3(MPI):c.670+9A>T
|
rs7495739
|
|
NM_002435.3(MPI):c.672G>C (p.Ala224=)
|
rs768186349
|
|
NM_002435.3(MPI):c.678C>A (p.Ala226=)
|
rs199972529
|
|
NM_002435.3(MPI):c.781A>G (p.Thr261Ala)
|
rs2064816825
|
|
NM_002435.3(MPI):c.845-10G>C
|
rs748693066
|
|
NM_013339.4(ALG6):c.1346C>G (p.Thr449Ser)
|
rs552078516
|
|
NM_013339.4(ALG6):c.346+7G>C
|
rs1159085775
|
|
NM_013339.4(ALG6):c.448A>G (p.Ile150Val)
|
rs571644669
|
|
NM_013339.4(ALG6):c.634T>G (p.Cys212Gly)
|
rs1644514646
|
|
NM_013339.4(ALG6):c.634dup (p.Cys212fs)
|
rs879133727
|
|
NM_013339.4(ALG6):c.82_82+8del
|
rs1424742651
|
|