NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
NM_013339.4(ALG6):c.257+5G>A
|
rs199682486
|
0.00065
|
NM_024079.5(ALG8):c.478+1G>A
|
rs139832787
|
0.00052
|
NM_019109.5(ALG1):c.827G>A (p.Arg276Gln)
|
rs201975029
|
0.00045
|
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)
|
rs190521996
|
0.00042
|
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)
|
rs28939378
|
0.00036
|
NM_000303.3(PMM2):c.713G>A (p.Arg238His)
|
rs151319324
|
0.00035
|
NM_004341.5(CAD):c.5429G>A (p.Arg1810Gln)
|
rs139332887
|
0.00028
|
NM_019109.5(ALG1):c.1036C>A (p.Pro346Thr)
|
rs143676440
|
0.00025
|
NM_002435.3(MPI):c.656G>A (p.Arg219Gln)
|
rs104894489
|
0.00021
|
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)
|
rs141498002
|
0.00017
|
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln)
|
rs121907932
|
0.00016
|
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_019109.5(ALG1):c.1187+3A>G
|
rs369160589
|
0.00013
|
NM_138459.5(NUS1):c.844C>T (p.Arg282Cys)
|
rs150953098
|
0.00012
|
NM_024105.4(ALG12):c.295+1G>A
|
rs376314741
|
0.00007
|
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr)
|
rs368582085
|
0.00006
|
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu)
|
rs150719105
|
0.00006
|
NM_013339.4(ALG6):c.338G>A (p.Arg113His)
|
rs768372697
|
0.00006
|
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu)
|
rs749720760
|
0.00005
|
NM_005787.6(ALG3):c.512G>A (p.Arg171Gln)
|
rs119103236
|
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_001382.4(DPAGT1):c.1139C>T (p.Thr380Ile)
|
rs776720609
|
0.00004
|
NM_002633.3(PGM1):c.988G>C (p.Gly330Arg)
|
rs777164338
|
0.00004
|
NM_013339.4(ALG6):c.1A>G (p.Met1Val)
|
rs562934427
|
0.00004
|
NM_033087.4(ALG2):c.176G>A (p.Cys59Tyr)
|
rs757068626
|
0.00004
|
NM_000303.3(PMM2):c.640-9T>G
|
rs370160676
|
0.00003
|
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr)
|
rs369326210
|
0.00003
|
NM_002435.3(MPI):c.305C>T (p.Ser102Leu)
|
rs104894494
|
0.00003
|
NM_002435.3(MPI):c.884G>A (p.Arg295His)
|
rs28928906
|
0.00003
|
NM_005787.6(ALG3):c.444+1G>T
|
rs748878963
|
0.00003
|
NM_013339.4(ALG6):c.1249del (p.Gln417fs)
|
rs771069984
|
0.00003
|
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter)
|
rs755933716
|
0.00003
|
NM_013339.4(ALG6):c.902+1G>A
|
rs1036516188
|
0.00003
|
NM_019109.5(ALG1):c.826C>T (p.Arg276Trp)
|
rs151173406
|
0.00003
|
NM_024079.5(ALG8):c.673+4A>G
|
rs1470636347
|
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.255+1G>A
|
rs1060499598
|
0.00002
|
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)
|
rs104894526
|
0.00002
|
NM_000303.3(PMM2):c.580C>T (p.Arg194Ter)
|
rs199562225
|
0.00002
|
NM_002435.3(MPI):c.487+2del
|
rs1057516550
|
0.00002
|
NM_002633.3(PGM1):c.1543C>T (p.Arg515Trp)
|
rs775651976
|
0.00002
|
NM_003859.3(DPM1):c.455G>T (p.Gly152Val)
|
rs587777116
|
0.00002
|
NM_003859.3(DPM1):c.494+2T>C
|
rs1478040715
|
0.00002
|
NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs)
|
rs774242915
|
0.00002
|
NM_013339.4(ALG6):c.257+2dup
|
rs745426479
|
0.00002
|
NM_013339.4(ALG6):c.337C>T (p.Arg113Cys)
|
rs754672490
|
0.00002
|
NM_019109.5(ALG1):c.1188-2A>G
|
rs794727073
|
0.00002
|
NM_019109.5(ALG1):c.841G>T (p.Val281Phe)
|
rs553396382
|
0.00002
|
NM_024105.4(ALG12):c.184G>A (p.Gly62Arg)
|
rs777719396
|
0.00002
|
NM_052859.4(RFT1):c.1325G>A (p.Arg442Gln)
|
rs749968109
|
0.00002
|
NM_052859.4(RFT1):c.454A>G (p.Lys152Glu)
|
rs763862849
|
0.00002
|
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.255G>A (p.Gln85=)
|
rs115344041
|
0.00001
|
NM_000303.3(PMM2):c.28C>T (p.Leu10Phe)
|
rs1215262242
|
0.00001
|
NM_000303.3(PMM2):c.323C>T (p.Ala108Val)
|
rs200503569
|
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.52A>C (p.Thr18Pro)
|
rs757040733
|
0.00001
|
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser)
|
rs760265100
|
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.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.66+1G>T
|
rs937726878
|
0.00001
|
NM_000303.3(PMM2):c.97C>T (p.Gln33Ter)
|
rs149530060
|
0.00001
|
NM_001382.4(DPAGT1):c.466C>T (p.Arg156Cys)
|
rs762796464
|
0.00001
|
NM_001382.4(DPAGT1):c.643+2T>C
|
rs774754436
|
0.00001
|
NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp)
|
rs772988029
|
0.00001
|
NM_002435.3(MPI):c.1253G>A (p.Arg418His)
|
rs863225087
|
0.00001
|
NM_002435.3(MPI):c.13C>T (p.Arg5Ter)
|
rs1452559752
|
0.00001
|
NM_002435.3(MPI):c.145-1G>C
|
rs1057516573
|
0.00001
|
NM_002435.3(MPI):c.166C>T (p.Arg56Ter)
|
rs757168691
|
0.00001
|
NM_002435.3(MPI):c.251C>G (p.Ser84Ter)
|
rs978284448
|
0.00001
|
NM_002435.3(MPI):c.488-1G>C
|
rs759579169
|
0.00001
|
NM_002435.3(MPI):c.652A>T (p.Lys218Ter)
|
rs1057516424
|
0.00001
|
NM_002435.3(MPI):c.718C>T (p.Gln240Ter)
|
rs776340315
|
0.00001
|
NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter)
|
rs745993071
|
0.00001
|
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu)
|
rs104894586
|
0.00001
|
NM_004870.4(MPDU1):c.514C>T (p.Gln172Ter)
|
rs999384296
|
0.00001
|
NM_005216.5(DDOST):c.645G>C (p.Gln215His)
|
rs867045420
|
0.00001
|
NM_005787.6(ALG3):c.165C>T (p.Gly55=)
|
rs387906273
|
0.00001
|
NM_005787.6(ALG3):c.286G>A (p.Gly96Arg)
|
rs367679074
|
0.00001
|
NM_005787.6(ALG3):c.521A>G (p.Asn174Ser)
|
rs1719068613
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2293+1G>A
|
rs750984566
|
0.00001
|
NM_013339.4(ALG6):c.250G>A (p.Ala84Thr)
|
rs762643273
|
0.00001
|
NM_013339.4(ALG6):c.2T>C (p.Met1Thr)
|
rs1387214955
|
0.00001
|
NM_013339.4(ALG6):c.429+1G>T
|
rs781097055
|
0.00001
|
NM_013339.4(ALG6):c.495-2A>G
|
rs1227131990
|
0.00001
|
NM_013339.4(ALG6):c.680+1G>A
|
rs1253289234
|
0.00001
|
NM_013339.4(ALG6):c.680+2T>G
|
rs868768232
|
0.00001
|
NM_019109.5(ALG1):c.1079C>T (p.Ala360Val)
|
rs398124348
|
0.00001
|
NM_019109.5(ALG1):c.1146G>A (p.Met382Ile)
|
rs778368053
|
0.00001
|
NM_019109.5(ALG1):c.598C>T (p.Arg200Ter)
|
rs1474783444
|
0.00001
|
NM_019109.5(ALG1):c.652C>T (p.Pro218Ser)
|
rs528261173
|
0.00001
|
NM_019109.5(ALG1):c.823G>T (p.Glu275Ter)
|
rs1372794201
|
0.00001
|
NM_019109.5(ALG1):c.863-2A>G
|
rs768733117
|
0.00001
|
NM_019109.5(ALG1):c.866A>G (p.Asp289Gly)
|
rs1180515976
|
0.00001
|
NM_019109.5(ALG1):c.901+1G>A
|
rs1227251669
|
0.00001
|
NM_024079.5(ALG8):c.368+2T>G
|
rs756894409
|
0.00001
|
NM_024079.5(ALG8):c.95+1G>A
|
rs1323512637
|
0.00001
|
NM_024079.5(ALG8):c.981dup (p.Val328fs)
|
rs777686455
|
0.00001
|
NM_024105.4(ALG12):c.1246_1247del (p.Lys416fs)
|
rs746988876
|
0.00001
|
NM_024105.4(ALG12):c.367G>A (p.Gly123Arg)
|
rs1555930118
|
0.00001
|
NM_024105.4(ALG12):c.768+1G>A
|
rs188399257
|
0.00001
|
NM_024592.5(SRD5A3):c.562+3del
|
rs752307253
|
0.00001
|
NM_024740.2(ALG9):c.566-1G>A
|
rs782379446
|
0.00001
|
NC_000001.10:g.(?_63867915)_(63868024_?)del
|
|
|
NC_000001.11:g.(?_63396503)_(63396607_?)dup
|
|
|
NC_000011.9:g.(118971849_118972204)_(118972786_?)del
|
|
|
NC_000015.9:g.(?_75188483)_(75190081_?)del
|
|
|
NC_000016.10:g.(?_5080946)_(5097739_?)del
|
|
|
NC_000016.10:g.(?_8847701)_(8847845_?)del
|
|
|
NC_000016.9:g.(8900265_8904935)_(8943195_?)del
|
|
|
NC_000016.9:g.(8906964_8941580)_(8943195_?)del
|
|
|
NC_000016.9:g.(?_5125369)_(5134882_?)del
|
|
|
NC_000016.9:g.(?_8895646)_(8895777_?)dup
|
|
|
NC_000016.9:g.(?_8898599)_(8898710_?)dup
|
|
|
NC_000020.11:g.(?_50940845)_(50942146_?)del
|
|
|
NM_000303.3(PMM2):c.127G>A (p.Val43Met)
|
rs376754460
|
|
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.16_22del (p.Pro6fs)
|
rs2141014102
|
|
NM_000303.3(PMM2):c.173del (p.Asn58fs)
|
|
|
NM_000303.3(PMM2):c.178+2T>G
|
rs1555448922
|
|
NM_000303.3(PMM2):c.179-1G>C
|
|
|
NM_000303.3(PMM2):c.179-1G>T
|
rs1166138838
|
|
NM_000303.3(PMM2):c.179-25A>G
|
|
|
NM_000303.3(PMM2):c.179-2A>G
|
rs2141019036
|
|
NM_000303.3(PMM2):c.189del (p.Lys63fs)
|
rs1057516815
|
|
NM_000303.3(PMM2):c.190del (p.Tyr64fs)
|
rs1339004837
|
|
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.1A>G (p.Met1Val)
|
rs786204591
|
|
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.228C>A (p.Tyr76Ter)
|
|
|
NM_000303.3(PMM2):c.250A>T (p.Arg84Ter)
|
|
|
NM_000303.3(PMM2):c.253C>T (p.Gln85Ter)
|
|
|
NM_000303.3(PMM2):c.256-1G>A
|
|
|
NM_000303.3(PMM2):c.256-2A>G
|
rs1057516372
|
|
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr)
|
rs104894532
|
|
NM_000303.3(PMM2):c.26G>T (p.Cys9Phe)
|
|
|
NM_000303.3(PMM2):c.27C>A (p.Cys9Ter)
|
rs1057516943
|
|
NM_000303.3(PMM2):c.28del (p.Leu10fs)
|
|
|
NM_000303.3(PMM2):c.295_296del (p.Leu99fs)
|
|
|
NM_000303.3(PMM2):c.296T>A (p.Leu99Ter)
|
|
|
NM_000303.3(PMM2):c.309T>A (p.Cys103Ter)
|
|
|
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe)
|
rs387906824
|
|
NM_000303.3(PMM2):c.324del (p.Ile110fs)
|
rs1555449314
|
|
NM_000303.3(PMM2):c.325A>T (p.Lys109Ter)
|
|
|
NM_000303.3(PMM2):c.328_329insGGGAA (p.Ile110fs)
|
|
|
NM_000303.3(PMM2):c.337C>A (p.Pro113Thr)
|
rs765433263
|
|
NM_000303.3(PMM2):c.340A>T (p.Lys114Ter)
|
|
|
NM_000303.3(PMM2):c.345dup (p.Arg116fs)
|
rs1057516757
|
|
NM_000303.3(PMM2):c.347+1G>A
|
rs1057517117
|
|
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.348-2del
|
rs2141022949
|
|
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.353C>G (p.Thr118Ser)
|
|
|
NM_000303.3(PMM2):c.356T>C (p.Phe119Ser)
|
|
|
NM_000303.3(PMM2):c.360T>G (p.Ile120Met)
|
|
|
NM_000303.3(PMM2):c.365del (p.Phe122fs)
|
|
|
NM_000303.3(PMM2):c.385G>A (p.Val129Met)
|
rs104894525
|
|
NM_000303.3(PMM2):c.386T>C (p.Val129Ala)
|
|
|
NM_000303.3(PMM2):c.392del (p.Pro131fs)
|
rs1555449607
|
|
NM_000303.3(PMM2):c.395T>A (p.Ile132Asn)
|
|
|
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.442G>T (p.Asp148Tyr)
|
|
|
NM_000303.3(PMM2):c.447+2T>A
|
rs1567160054
|
|
NM_000303.3(PMM2):c.448-1G>A
|
rs762937296
|
|
NM_000303.3(PMM2):c.448-1_448del
|
rs1414007551
|
|
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.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.458T>G (p.Ile153Arg)
|
rs150577656
|
|
NM_000303.3(PMM2):c.459A>G (p.Ile153Met)
|
|
|
NM_000303.3(PMM2):c.470T>G (p.Phe157Cys)
|
|
|
NM_000303.3(PMM2):c.485G>C (p.Arg162Pro)
|
|
|
NM_000303.3(PMM2):c.488_491del (p.Lys163fs)
|
rs2060678732
|
|
NM_000303.3(PMM2):c.511dup (p.Thr171fs)
|
rs1057516323
|
|
NM_000303.3(PMM2):c.523G>C (p.Gly175Arg)
|
|
|
NM_000303.3(PMM2):c.523G>T (p.Gly175Ter)
|
|
|
NM_000303.3(PMM2):c.524-2A>G
|
rs1555449780
|
|
NM_000303.3(PMM2):c.527G>T (p.Gly176Val)
|
rs940938678
|
|
NM_000303.3(PMM2):c.52A>G (p.Thr18Ala)
|
|
|
NM_000303.3(PMM2):c.550C>A (p.Pro184Thr)
|
rs1555449795
|
|
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.564C>A (p.Asp188Glu)
|
|
|
NM_000303.3(PMM2):c.566_571delinsGTGGATTTCC (p.Lys189fs)
|
rs2060686245
|
|
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.603T>G (p.Tyr201Ter)
|
rs1202400777
|
|
NM_000303.3(PMM2):c.617del (p.Phe206fs)
|
rs1555449810
|
|
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.639+1G>A
|
rs1057517183
|
|
NM_000303.3(PMM2):c.640-23A>G
|
rs981372486
|
|
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.66+1del
|
rs1555495965
|
|
NM_000303.3(PMM2):c.669C>A (p.Asp223Glu)
|
|
|
NM_000303.3(PMM2):c.66_66+1delinsTA
|
|
|
NM_000303.3(PMM2):c.67-1G>C
|
|
|
NM_000303.3(PMM2):c.67-2A>T
|
rs1555448897
|
|
NM_000303.3(PMM2):c.677C>G (p.Thr226Ser)
|
rs80338706
|
|
NM_000303.3(PMM2):c.677C>T (p.Thr226Ile)
|
|
|
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.691G>C (p.Val231Leu)
|
|
|
NM_000303.3(PMM2):c.691G>T (p.Val231Leu)
|
|
|
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter)
|
rs763091085
|
|
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.713G>C (p.Arg238Pro)
|
rs151319324
|
|
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.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.76A>T (p.Lys26Ter)
|
|
|
NM_000303.3(PMM2):c.79G>T (p.Glu27Ter)
|
|
|
NM_000303.3(PMM2):c.94C>G (p.Leu32Val)
|
|
|
NM_001004127.3(ALG11):c.1184T>C (p.Met395Thr)
|
rs2140840645
|
|
NM_001004127.3(ALG11):c.1241T>A (p.Ile414Asn)
|
rs398123525
|
|
NM_001004127.3(ALG11):c.1A>G (p.Met1Val)
|
rs921941078
|
|
NM_001004127.3(ALG11):c.2T>C (p.Met1Thr)
|
rs2140807775
|
|
NM_001004127.3(ALG11):c.983AGA[1] (p.Lys329del)
|
rs1064794465
|
|
NM_001099922.3(ALG13):c.131G>A (p.Gly44Glu)
|
|
|
NM_001099922.3(ALG13):c.320A>T (p.Asn107Ile)
|
rs398122394
|
|
NM_001382.4(DPAGT1):c.1005+1G>A
|
|
|
NM_001382.4(DPAGT1):c.1036C>G (p.His346Asp)
|
rs1592225374
|
|
NM_001382.4(DPAGT1):c.160A>T (p.Ile54Phe)
|
|
|
NM_001382.4(DPAGT1):c.349G>A (p.Val117Ile)
|
rs387907243
|
|
NM_001382.4(DPAGT1):c.574G>A (p.Gly192Ser)
|
rs768464558
|
|
NM_001382.4(DPAGT1):c.574G>C (p.Gly192Arg)
|
rs768464558
|
|
NM_001382.4(DPAGT1):c.643+1G>A
|
rs2134910617
|
|
NM_001382.4(DPAGT1):c.644-1G>T
|
rs2134903748
|
|
NM_001382.4(DPAGT1):c.698T>C (p.Phe233Ser)
|
rs1450090350
|
|
NM_001382.4(DPAGT1):c.85A>T (p.Ile29Phe)
|
rs397515328
|
|
NM_002435.3(MPI):c.-1_3del (p.Met1fs)
|
rs1555478015
|
|
NM_002435.3(MPI):c.1001_1004del (p.Tyr334fs)
|
rs2141208628
|
|
NM_002435.3(MPI):c.1017_1024delinsACCCCTT (p.Asp339fs)
|
|
|
NM_002435.3(MPI):c.1022del (p.Pro341fs)
|
|
|
NM_002435.3(MPI):c.1022dup (p.Val342fs)
|
rs765310894
|
|
NM_002435.3(MPI):c.1023del (p.Val342fs)
|
rs1555479441
|
|
NM_002435.3(MPI):c.1054del
|
rs752976348
|
|
NM_002435.3(MPI):c.1087del (p.Ala363fs)
|
rs2141209567
|
|
NM_002435.3(MPI):c.1124G>A (p.Gly375Glu)
|
rs2064840907
|
|
NM_002435.3(MPI):c.1127_1128del (p.Thr376fs)
|
|
|
NM_002435.3(MPI):c.1134del (p.Ile378fs)
|
|
|
NM_002435.3(MPI):c.120del (p.Ile40fs)
|
rs1057516466
|
|
NM_002435.3(MPI):c.138del (p.Pro45_Tyr46insTer)
|
|
|
NM_002435.3(MPI):c.144+1G>A
|
|
|
NM_002435.3(MPI):c.144+2T>C
|
|
|
NM_002435.3(MPI):c.145-1G>A
|
rs1057516573
|
|
NM_002435.3(MPI):c.15_16+5del
|
rs2141194911
|
|
NM_002435.3(MPI):c.16+1G>A
|
|
|
NM_002435.3(MPI):c.16+1G>T
|
|
|
NM_002435.3(MPI):c.166dup (p.Arg56fs)
|
rs786204593
|
|
NM_002435.3(MPI):c.169G>A (p.Gly57Arg)
|
rs1225376562
|
|
NM_002435.3(MPI):c.17-2A>G
|
|
|
NM_002435.3(MPI):c.199dup (p.Ser67fs)
|
|
|
NM_002435.3(MPI):c.251C>A (p.Ser84Ter)
|
|
|
NM_002435.3(MPI):c.319del (p.Leu107fs)
|
|
|
NM_002435.3(MPI):c.339_342dup (p.Lys115Ter)
|
rs1661886822
|
|
NM_002435.3(MPI):c.345+1G>A
|
rs1555478333
|
|
NM_002435.3(MPI):c.391G>A (p.Asp131Asn)
|
|
|
NM_002435.3(MPI):c.413T>C (p.Met138Thr)
|
rs104894495
|
|
NM_002435.3(MPI):c.419T>C (p.Ile140Thr)
|
|
|
NM_002435.3(MPI):c.432del (p.Phe145fs)
|
|
|
NM_002435.3(MPI):c.455G>A (p.Arg152Gln)
|
|
|
NM_002435.3(MPI):c.487+1G>A
|
|
|
NM_002435.3(MPI):c.488-1G>A
|
rs759579169
|
|
NM_002435.3(MPI):c.497_498del (p.Glu166fs)
|
rs2141200280
|
|
NM_002435.3(MPI):c.530dup (p.His178fs)
|
|
|
NM_002435.3(MPI):c.535del (p.His178_Leu179insTer)
|
rs1555478582
|
|
NM_002435.3(MPI):c.56_65del (p.Gly19fs)
|
|
|
NM_002435.3(MPI):c.629del (p.Val210fs)
|
rs1555478606
|
|
NM_002435.3(MPI):c.679G>T (p.Gly227Ter)
|
|
|
NM_002435.3(MPI):c.713del (p.Leu238fs)
|
rs745432667
|
|
NM_002435.3(MPI):c.727C>T (p.Gln243Ter)
|
rs749911553
|
|
NM_002435.3(MPI):c.740del (p.Gly247fs)
|
rs1057517115
|
|
NM_002435.3(MPI):c.764A>G (p.Tyr255Cys)
|
|
|
NM_002435.3(MPI):c.796G>A (p.Glu266Lys)
|
rs1595822583
|
|
NM_002435.3(MPI):c.802_803del (p.Met268fs)
|
rs1555479227
|
|
NM_002435.3(MPI):c.818delinsTC (p.Asn273fs)
|
|
|
NM_002435.3(MPI):c.844+1G>A
|
rs1394866894
|
|
NM_002435.3(MPI):c.844+2T>C
|
|
|
NM_002435.3(MPI):c.844+2T>G
|
rs2141206921
|
|
NM_002435.3(MPI):c.845-2A>G
|
rs2064828055
|
|
NM_002435.3(MPI):c.845-2del
|
rs1555479341
|
|
NM_002435.3(MPI):c.84_88del (p.Arg29fs)
|
rs753839890
|
|
NM_002435.3(MPI):c.875_879dup (p.Val294fs)
|
|
|
NM_002435.3(MPI):c.880dup (p.Val294fs)
|
rs1555479351
|
|
NM_002435.3(MPI):c.89_113del (p.Leu30fs)
|
rs1555478118
|
|
NM_002435.3(MPI):c.973del (p.Leu325fs)
|
|
|
NM_002633.3(PGM1):c.1281-2A>G
|
rs1649810314
|
|
NM_002633.3(PGM1):c.1378_1379del (p.Ala461fs)
|
rs763428801
|
|
NM_002633.3(PGM1):c.689G>A (p.Gly230Glu)
|
|
|
NM_002633.3(PGM1):c.871G>A (p.Gly291Arg)
|
|
|
NM_003859.3(DPM1):c.371A>G (p.His124Arg)
|
rs2123115725
|
|
NM_003859.3(DPM1):c.439C>T (p.Arg147Cys)
|
rs1225648834
|
|
NM_003859.3(DPM1):c.495-1G>T
|
|
|
NM_003859.3(DPM1):c.742T>C (p.Ser248Pro)
|
rs587777114
|
|
NM_003863.4(DPM2):c.139C>T (p.Arg47Ter)
|
rs549450795
|
|
NM_003863.4(DPM2):c.197G>A (p.Gly66Glu)
|
|
|
NM_004341.5(CAD):c.1843-3C>T
|
rs1057519262
|
|
NM_004341.5(CAD):c.3721del (p.Val1241fs)
|
rs2148080342
|
|
NM_004870.4(MPDU1):c.310G>A (p.Gly104Ser)
|
rs1555570093
|
|
NM_004870.4(MPDU1):c.377A>C (p.Gln126Pro)
|
rs1555570110
|
|
NM_004870.4(MPDU1):c.69del (p.Cys22_Tyr23insTer)
|
rs2150933483
|
|
NM_005787.6(ALG3):c.1060C>T (p.Arg354Cys)
|
|
|
NM_005787.6(ALG3):c.221A>G (p.Tyr74Cys)
|
rs1028791709
|
|
NM_005787.6(ALG3):c.296+4A>G
|
rs1560164682
|
|
NM_005787.6(ALG3):c.2T>C (p.Met1Thr)
|
rs773271124
|
|
NM_005787.6(ALG3):c.410_411insTGTCTTCTTGCT (p.Leu137_Leu138insValPheLeuLeu)
|
rs2108442073
|
|
NM_005787.6(ALG3):c.444+2T>G
|
rs1719083745
|
|
NM_005787.6(ALG3):c.487C>T (p.Arg163Cys)
|
|
|
NM_006280.3(SSR4):c.235C>T (p.Arg79Ter)
|
|
|
NM_006280.3(SSR4):c.358_359del (p.Arg120fs)
|
rs794729223
|
|
NM_006280.3(SSR4):c.418-2A>G
|
rs880003306
|
|
NM_012463.4(ATP6V0A2):c.1039-1G>A
|
|
|
NM_012463.4(ATP6V0A2):c.117+1del
|
|
|
NM_012463.4(ATP6V0A2):c.118-1G>T
|
rs2135879573
|
|
NM_012463.4(ATP6V0A2):c.1189G>C (p.Ala397Pro)
|
|
|
NM_012463.4(ATP6V0A2):c.2056-2A>G
|
|
|
NM_013339.4(ALG6):c.1006_1007del (p.Phe336fs)
|
rs1644562014
|
|
NM_013339.4(ALG6):c.1013T>A (p.Leu338Ter)
|
|
|
NM_013339.4(ALG6):c.1018del (p.Ser340fs)
|
rs1269984067
|
|
NM_013339.4(ALG6):c.1058+1G>A
|
|
|
NM_013339.4(ALG6):c.1061C>T (p.Pro354Leu)
|
|
|
NM_013339.4(ALG6):c.1076T>A (p.Leu359Ter)
|
|
|
NM_013339.4(ALG6):c.1113del (p.Val372fs)
|
|
|
NM_013339.4(ALG6):c.1127+1G>A
|
rs1557597486
|
|
NM_013339.4(ALG6):c.1128-1G>A
|
rs1644631015
|
|
NM_013339.4(ALG6):c.1128-2A>C
|
rs1553156882
|
|
NM_013339.4(ALG6):c.1136del (p.Pro379fs)
|
rs1553156884
|
|
NM_013339.4(ALG6):c.114T>G (p.Tyr38Ter)
|
|
|
NM_013339.4(ALG6):c.1167del (p.Ser390fs)
|
rs769698652
|
|
NM_013339.4(ALG6):c.1194_1195delinsG (p.Phe398fs)
|
rs1553156894
|
|
NM_013339.4(ALG6):c.1194dup (p.Ile399fs)
|
rs1207096732
|
|
NM_013339.4(ALG6):c.1246_1250del (p.Leu416fs)
|
|
|
NM_013339.4(ALG6):c.1326+1G>A
|
|
|
NM_013339.4(ALG6):c.1390C>T (p.Gln464Ter)
|
rs1553157428
|
|
NM_013339.4(ALG6):c.146_147del (p.Thr48_Phe49insTer)
|
rs756566938
|
|
NM_013339.4(ALG6):c.168-1G>A
|
|
|
NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter)
|
rs780528545
|
|
NM_013339.4(ALG6):c.230_238delinsTCTCCTAT (p.Ala77fs)
|
|
|
NM_013339.4(ALG6):c.232del (p.Tyr78fs)
|
|
|
NM_013339.4(ALG6):c.257+2T>C
|
rs1644468935
|
|
NM_013339.4(ALG6):c.258-2A>C
|
rs2100415367
|
|
NM_013339.4(ALG6):c.258-9_267del
|
rs2100415350
|
|
NM_013339.4(ALG6):c.285_286insTATAAACTTT (p.Ala96fs)
|
|
|
NM_013339.4(ALG6):c.347-2A>G
|
|
|
NM_013339.4(ALG6):c.350T>A (p.Leu117Ter)
|
|
|
NM_013339.4(ALG6):c.428del (p.Lys143fs)
|
rs1471326272
|
|
NM_013339.4(ALG6):c.429+1G>A
|
|
|
NM_013339.4(ALG6):c.429+2T>C
|
|
|
NM_013339.4(ALG6):c.429+2T>G
|
rs1270337982
|
|
NM_013339.4(ALG6):c.430-2A>G
|
rs1553155565
|
|
NM_013339.4(ALG6):c.493del (p.Gln165fs)
|
|
|
NM_013339.4(ALG6):c.495-2A>T
|
rs1227131990
|
|
NM_013339.4(ALG6):c.506_507del (p.Val169fs)
|
rs1274913587
|
|
NM_013339.4(ALG6):c.57G>A (p.Trp19Ter)
|
|
|
NM_013339.4(ALG6):c.634dup (p.Cys212fs)
|
rs879133727
|
|
NM_013339.4(ALG6):c.654T>A (p.Cys218Ter)
|
|
|
NM_013339.4(ALG6):c.657del (p.Phe219fs)
|
|
|
NM_013339.4(ALG6):c.658A>T (p.Lys220Ter)
|
|
|
NM_013339.4(ALG6):c.65_66insAAGA (p.Leu23fs)
|
rs1553153399
|
|
NM_013339.4(ALG6):c.663del (p.Gly222fs)
|
|
|
NM_013339.4(ALG6):c.665_669dup (p.Lys224fs)
|
|
|
NM_013339.4(ALG6):c.670A>T (p.Lys224Ter)
|
|
|
NM_013339.4(ALG6):c.680+1del
|
|
|
NM_013339.4(ALG6):c.681-1G>T
|
|
|
NM_013339.4(ALG6):c.684del (p.Phe228fs)
|
rs2100421533
|
|
NM_013339.4(ALG6):c.732_748dup (p.Phe250fs)
|
rs1553155823
|
|
NM_013339.4(ALG6):c.738G>A (p.Trp246Ter)
|
|
|
NM_013339.4(ALG6):c.772C>T (p.Gln258Ter)
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|
|
NM_013339.4(ALG6):c.796_799dup (p.Asp267delinsGlyTer)
|
rs2100421727
|
|
NM_013339.4(ALG6):c.82+1G>A
|
|
|
NM_013339.4(ALG6):c.820A>T (p.Lys274Ter)
|
|
|
NM_013339.4(ALG6):c.82_82+8del
|
rs1424742651
|
|
NM_013339.4(ALG6):c.893T>A (p.Leu298Ter)
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|
|
NM_013339.4(ALG6):c.894AAT[1] (p.Ile299del)
|
rs387906338
|
|
NM_013339.4(ALG6):c.902+2dup
|
|
|
NM_013339.4(ALG6):c.920T>A (p.Leu307Ter)
|
rs1644543791
|
|
NM_013339.4(ALG6):c.924C>A (p.Ser308Arg)
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|
|
NM_013339.4(ALG6):c.947T>G (p.Leu316Ter)
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|
NM_013339.4(ALG6):c.947_950del (p.Leu316fs)
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|
|
NM_013339.4(ALG6):c.987+1G>T
|
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|
NM_013339.4(ALG6):c.988-1G>A
|
rs781473515
|
|
NM_019109.5(ALG1):c.1025A>C (p.Gln342Pro)
|
rs267606651
|
|
NM_019109.5(ALG1):c.1072+1G>T
|
|
|
NM_019109.5(ALG1):c.1073-1G>A
|
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|
NM_019109.5(ALG1):c.1144A>G (p.Met382Val)
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NM_019109.5(ALG1):c.1145T>C (p.Met382Thr)
|
rs1596261268
|
|
NM_019109.5(ALG1):c.1150G>A (p.Gly384Arg)
|
rs1057520122
|
|
NM_019109.5(ALG1):c.115del (p.Val39fs)
|
rs886042130
|
|
NM_019109.5(ALG1):c.1163C>T (p.Pro388Leu)
|
|
|
NM_019109.5(ALG1):c.1188-1G>A
|
rs2142728485
|
|
NM_019109.5(ALG1):c.1280T>G (p.Phe427Cys)
|
rs1957090242
|
|
NM_019109.5(ALG1):c.131G>T (p.Gly44Val)
|
|
|
NM_019109.5(ALG1):c.208+1G>A
|
|
|
NM_019109.5(ALG1):c.208+1G>C
|
rs1313166263
|
|
NM_019109.5(ALG1):c.209-2A>G
|
rs774618681
|
|
NM_019109.5(ALG1):c.212C>G (p.Ser71Cys)
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|
|
NM_019109.5(ALG1):c.287-12_289del
|
rs2142701800
|
|
NM_019109.5(ALG1):c.292C>T (p.Pro98Ser)
|
|
|
NM_019109.5(ALG1):c.339C>G (p.Tyr113Ter)
|
rs776990436
|
|
NM_019109.5(ALG1):c.34_51dup (p.Cys12_Leu17dup)
|
rs1436106795
|
|
NM_019109.5(ALG1):c.391-2A>G
|
|
|
NM_019109.5(ALG1):c.434G>A (p.Gly145Asp)
|
rs387906926
|
|
NM_019109.5(ALG1):c.539+1G>A
|
|
|
NM_019109.5(ALG1):c.539_539+1delinsTC
|
|
|
NM_019109.5(ALG1):c.540-2A>T
|
|
|
NM_019109.5(ALG1):c.630-2A>G
|
|
|
NM_019109.5(ALG1):c.740+1G>A
|
|
|
NM_019109.5(ALG1):c.876C>G (p.Phe292Leu)
|
rs1009298200
|
|
NM_019109.5(ALG1):c.877T>C (p.Ser293Pro)
|
rs1555452127
|
|
NM_019109.5(ALG1):c.961+1G>A
|
|
|
NM_019109.5(ALG1):c.961+1G>C
|
rs373355236
|
|
NM_024079.5(ALG8):c.121C>T (p.Arg41Ter)
|
rs200888240
|
|
NM_024079.5(ALG8):c.1533T>A (p.Tyr511Ter)
|
rs1859771094
|
|
NM_024079.5(ALG8):c.174+2del
|
|
|
NM_024079.5(ALG8):c.206C>T (p.Pro69Leu)
|
rs748962880
|
|
NM_024079.5(ALG8):c.368+1G>A
|
|
|
NM_024079.5(ALG8):c.761dup (p.Pro255fs)
|
rs968741434
|
|
NM_024079.5(ALG8):c.802del (p.Arg268fs)
|
rs2136899636
|
|
NM_024079.5(ALG8):c.824G>A (p.Gly275Asp)
|
rs121908294
|
|
NM_024105.4(ALG12):c.1001del (p.Asn334fs)
|
rs759244819
|
|
NM_024105.4(ALG12):c.1156dup (p.Gln386fs)
|
rs770711819
|
|
NM_024105.4(ALG12):c.1439T>C (p.Leu480Pro)
|
rs775856400
|
|
NM_024105.4(ALG12):c.439_469+19del
|
|
|
NM_024105.4(ALG12):c.664+1G>A
|
|
|
NM_024105.4(ALG12):c.768+1dup
|
|
|
NM_024592.4:c.(221+1_222-1)_(697+1_698-1)dup
|
|
|
NM_024592.5(SRD5A3):c.484C>T (p.Gln162Ter)
|
rs1578209906
|
|
NM_024740.2(ALG9):c.131+1G>C
|
|
|
NM_024740.2(ALG9):c.701+1G>A
|
rs2137107185
|
|
NM_024740.2(ALG9):c.896-2A>G
|
|
|
NM_033087.4(ALG2):c.1040del (p.Gly347fs)
|
rs387906281
|
|
NM_033087.4(ALG2):c.1193T>C (p.Phe398Ser)
|
|
|
NM_033087.4(ALG2):c.216delinsTCCCC (p.Asp73fs)
|
|
|
NM_033087.4(ALG2):c.218_225del (p.Asp73fs)
|
rs1828806280
|
|
NM_033087.4(ALG2):c.89_114del (p.Glu30fs)
|
rs775204090
|
|
NM_052859.4(RFT1):c.1154A>G (p.Asn385Ser)
|
|
|
NM_052859.4(RFT1):c.208T>C (p.Cys70Arg)
|
|
|
NM_052859.4(RFT1):c.229C>T (p.Arg77Ter)
|
|
|
NM_052859.4(RFT1):c.740dup (p.Lys248fs)
|
rs1701662808
|
|
NM_052859.4(RFT1):c.902A>G (p.Tyr301Cys)
|
rs913477149
|
|
NM_138459.5(NUS1):c.-118_159del (p.Met1fs)
|
|
|
NM_138459.5(NUS1):c.308T>G (p.Leu103Arg)
|
|
|
NM_138459.5(NUS1):c.542-1G>T
|
|
|
NM_138459.5(NUS1):c.692-1G>A
|
rs1582477100
|
|
NM_138459.5(NUS1):c.692-2A>G
|
rs2114693876
|
|
NM_138459.5(NUS1):c.868C>T (p.Arg290Cys)
|
rs2114696019
|
|
NM_138459.5(NUS1):c.869G>A (p.Arg290His)
|
rs886037858
|
|
NM_153741.2(DPM3):c.124C>G (p.Pro42Ala)
|
rs745692004
|
|