NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
NM_201400.4(EEF2KMT):c.957G>C (p.Glu319Asp)
|
rs142385356
|
0.00184
|
NM_024079.5(ALG8):c.1211C>T (p.Ser404Leu)
|
rs146603801
|
0.00103
|
NM_005787.6(ALG3):c.1084G>A (p.Val362Ile)
|
rs186946267
|
0.00068
|
NM_013339.4(ALG6):c.257+5G>A
|
rs199682486
|
0.00065
|
NM_004341.5(CAD):c.5392C>A (p.Gln1798Lys)
|
rs138840581
|
0.00062
|
NM_033087.4(ALG2):c.1132C>T (p.Arg378Cys)
|
rs56393253
|
0.00054
|
NM_024079.5(ALG8):c.478+1G>A
|
rs139832787
|
0.00052
|
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)
|
rs190521996
|
0.00042
|
NM_024105.4(ALG12):c.242C>T (p.Ala81Val)
|
rs142586266
|
0.00041
|
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro)
|
rs36111204
|
0.00032
|
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser)
|
rs80338709
|
0.00027
|
NM_004341.5(CAD):c.461A>G (p.Asn154Ser)
|
rs147694325
|
0.00027
|
NM_024079.5(ALG8):c.1285A>G (p.Ile429Val)
|
rs200068321
|
0.00023
|
NM_002435.3(MPI):c.656G>A (p.Arg219Gln)
|
rs104894489
|
0.00021
|
NM_001004127.3(ALG11):c.406C>T (p.Arg136Cys)
|
rs150101415
|
0.00019
|
NM_002435.3(MPI):c.1178G>C (p.Gly393Ala)
|
rs201815588
|
0.00019
|
NM_024079.5(ALG8):c.980C>G (p.Thr327Arg)
|
rs141068538
|
0.00019
|
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_004341.5(CAD):c.1118G>A (p.Arg373Gln)
|
rs779009526
|
0.00013
|
NM_013339.4(ALG6):c.482A>G (p.Tyr161Cys)
|
rs201354339
|
0.00010
|
NM_000303.3(PMM2):c.255+2T>C
|
rs139716296
|
0.00007
|
NM_003859.3(DPM1):c.685A>G (p.Ile229Val)
|
rs559946698
|
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_005216.5(DDOST):c.573C>A (p.Asn191Lys)
|
rs1038330038
|
0.00006
|
NM_013339.4(ALG6):c.338G>A (p.Arg113His)
|
rs768372697
|
0.00006
|
NM_013339.4(ALG6):c.36A>C (p.Leu12Phe)
|
rs151277583
|
0.00006
|
NM_052859.4(RFT1):c.1117C>T (p.Arg373Cys)
|
rs375524916
|
0.00006
|
NM_138459.5(NUS1):c.246C>G (p.His82Gln)
|
rs1023259853
|
0.00006
|
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu)
|
rs749720760
|
0.00005
|
NM_004341.5(CAD):c.4208G>A (p.Arg1403Gln)
|
rs368332006
|
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_005216.5(DDOST):c.710G>A (p.Arg237His)
|
rs774094300
|
0.00004
|
NM_019109.5(ALG1):c.121G>A (p.Gly41Ser)
|
rs1393282696
|
0.00004
|
NM_052859.4(RFT1):c.821A>G (p.Asp274Gly)
|
rs781066087
|
0.00004
|
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu)
|
rs80338701
|
0.00003
|
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_013339.4(ALG6):c.52C>T (p.Arg18Ter)
|
rs755933716
|
0.00003
|
NM_013339.4(ALG6):c.998C>T (p.Ala333Val)
|
rs121908443
|
0.00003
|
NM_033087.4(ALG2):c.449T>C (p.Phe150Ser)
|
rs377047079
|
0.00003
|
NM_052859.4(RFT1):c.781C>G (p.Arg261Gly)
|
rs766042717
|
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.367C>T (p.Arg123Ter)
|
rs191295403
|
0.00002
|
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)
|
rs104894526
|
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_001099922.3(ALG13):c.2839C>T (p.Leu947Phe)
|
rs758632567
|
0.00002
|
NM_002435.3(MPI):c.487+2del
|
rs1057516550
|
0.00002
|
NM_004341.5(CAD):c.5488A>G (p.Met1830Val)
|
rs747817554
|
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_138459.5(NUS1):c.75G>C (p.Trp25Cys)
|
rs774553541
|
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.193G>T (p.Asp65Tyr)
|
rs104894527
|
0.00001
|
NM_000303.3(PMM2):c.256-1G>C
|
rs757394782
|
0.00001
|
NM_000303.3(PMM2):c.284del (p.Leu95fs)
|
rs757865122
|
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.395T>C (p.Ile132Thr)
|
rs80338702
|
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.53C>G (p.Thr18Ser)
|
rs760265100
|
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.95T>G (p.Leu32Arg)
|
rs104894533
|
0.00001
|
NM_000303.3(PMM2):c.97C>T (p.Gln33Ter)
|
rs149530060
|
0.00001
|
NM_001382.4(DPAGT1):c.1204G>A (p.Val402Ile)
|
rs779911586
|
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.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.718C>T (p.Gln240Ter)
|
rs776340315
|
0.00001
|
NM_002435.3(MPI):c.992A>C (p.Glu331Ala)
|
rs1223295146
|
0.00001
|
NM_003863.4(DPM2):c.127T>C (p.Tyr43His)
|
rs1275174624
|
0.00001
|
NM_004341.5(CAD):c.1352A>G (p.Tyr451Cys)
|
rs770953907
|
0.00001
|
NM_004341.5(CAD):c.4315-3C>T
|
rs867496821
|
0.00001
|
NM_004341.5(CAD):c.4564-9C>G
|
rs575379595
|
0.00001
|
NM_004341.5(CAD):c.4655C>T (p.Ala1552Val)
|
rs1041556030
|
0.00001
|
NM_004341.5(CAD):c.625C>G (p.Leu209Val)
|
rs374182358
|
0.00001
|
NM_004341.5(CAD):c.859C>T (p.Arg287Cys)
|
rs753478495
|
0.00001
|
NM_004870.4(MPDU1):c.613A>G (p.Ile205Val)
|
rs1473747780
|
0.00001
|
NM_013339.4(ALG6):c.250G>A (p.Ala84Thr)
|
rs762643273
|
0.00001
|
NM_013339.4(ALG6):c.429+1G>T
|
rs781097055
|
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_013339.4(ALG6):c.680G>A (p.Gly227Glu)
|
rs372079206
|
0.00001
|
NM_024079.5(ALG8):c.346C>T (p.Leu116Phe)
|
rs1401833410
|
0.00001
|
NM_024592.5(SRD5A3):c.263G>T (p.Gly88Val)
|
rs893706862
|
0.00001
|
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter)
|
rs398124401
|
0.00001
|
NM_000303.3(PMM2):c.-167G>T
|
rs1596481676
|
|
NM_000303.3(PMM2):c.131T>C (p.Val44Ala)
|
rs104894534
|
|
NM_000303.3(PMM2):c.160dup (p.Glu54fs)
|
rs753122961
|
|
NM_000303.3(PMM2):c.16_22del (p.Pro6fs)
|
rs2141014102
|
|
NM_000303.3(PMM2):c.173del (p.Asn58fs)
|
|
|
NM_000303.3(PMM2):c.179-1G>C
|
|
|
NM_000303.3(PMM2):c.179-25A>G
|
|
|
NM_000303.3(PMM2):c.190del (p.Tyr64fs)
|
rs1339004837
|
|
NM_000303.3(PMM2):c.192C>G (p.Tyr64Ter)
|
|
|
NM_000303.3(PMM2):c.196dup (p.Tyr66fs)
|
|
|
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser)
|
rs769648248
|
|
NM_000303.3(PMM2):c.228C>A (p.Tyr76Ter)
|
|
|
NM_000303.3(PMM2):c.243_244del (p.Leu82fs)
|
rs2060637616
|
|
NM_000303.3(PMM2):c.253C>T (p.Gln85Ter)
|
|
|
NM_000303.3(PMM2):c.256-1G>A
|
|
|
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr)
|
rs104894532
|
|
NM_000303.3(PMM2):c.28del (p.Leu10fs)
|
|
|
NM_000303.3(PMM2):c.328_329insGGGAA (p.Ile110fs)
|
|
|
NM_000303.3(PMM2):c.348-2A>G
|
|
|
NM_000303.3(PMM2):c.365del (p.Phe122fs)
|
|
|
NM_000303.3(PMM2):c.366C>G (p.Phe122Leu)
|
|
|
NM_000303.3(PMM2):c.385G>A (p.Val129Met)
|
rs104894525
|
|
NM_000303.3(PMM2):c.414del (p.Glu139fs)
|
rs755008774
|
|
NM_000303.3(PMM2):c.448-1_448del
|
rs1414007551
|
|
NM_000303.3(PMM2):c.448-2A>G
|
rs2141023331
|
|
NM_000303.3(PMM2):c.451_454del
|
rs1274794195
|
|
NM_000303.3(PMM2):c.458_462del (p.Ile153fs)
|
rs774738702
|
|
NM_000303.3(PMM2):c.488_491del (p.Lys163fs)
|
rs2060678732
|
|
NM_000303.3(PMM2):c.523G>C (p.Gly175Arg)
|
|
|
NM_000303.3(PMM2):c.523G>T (p.Gly175Ter)
|
|
|
NM_000303.3(PMM2):c.55del (p.Ala19fs)
|
rs1596481889
|
|
NM_000303.3(PMM2):c.561G>A (p.Trp187Ter)
|
rs201855351
|
|
NM_000303.3(PMM2):c.573C>A (p.Tyr191Ter)
|
rs201440361
|
|
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.647A>T (p.Asn216Ile)
|
rs78290141
|
|
NM_000303.3(PMM2):c.64C>T (p.Gln22Ter)
|
|
|
NM_000303.3(PMM2):c.66+1del
|
rs1555495965
|
|
NM_000303.3(PMM2):c.667G>A (p.Asp223Asn)
|
|
|
NM_000303.3(PMM2):c.669C>A (p.Asp223Glu)
|
|
|
NM_000303.3(PMM2):c.67-1G>C
|
|
|
NM_000303.3(PMM2):c.677C>G (p.Thr226Ser)
|
rs80338706
|
|
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys)
|
rs558826439
|
|
NM_000303.3(PMM2):c.687C>A (p.Tyr229Ter)
|
|
|
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.72del (p.Thr25fs)
|
rs2060617981
|
|
NM_000303.3(PMM2):c.79G>T (p.Glu27Ter)
|
|
|
NM_001004127.3(ALG11):c.1A>G (p.Met1Val)
|
rs921941078
|
|
NM_001004127.3(ALG11):c.991G>T (p.Val331Phe)
|
rs750430228
|
|
NM_001006941.2(ALG3):c.46G>T (p.Gly16Trp)
|
rs373046727
|
|
NM_001099922.3(ALG13):c.1888T>C (p.Ser630Pro)
|
rs1942124594
|
|
NM_001099922.3(ALG13):c.1931C>T (p.Pro644Leu)
|
|
|
NM_001099922.3(ALG13):c.2047A>G (p.Lys683Glu)
|
rs1942189447
|
|
NM_001099922.3(ALG13):c.88G>C (p.Glu30Gln)
|
rs1933583293
|
|
NM_001367916.1(MAGT1):c.297C>G (p.Ile99Met)
|
|
|
NM_001382.4(DPAGT1):c.352C>G (p.Leu118Val)
|
rs398123609
|
|
NM_002435.3(MPI):c.1017_1024delinsACCCCTT (p.Asp339fs)
|
|
|
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.1061G>A (p.Gly354Asp)
|
|
|
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.16+1G>T
|
|
|
NM_002435.3(MPI):c.166dup (p.Arg56fs)
|
rs786204593
|
|
NM_002435.3(MPI):c.17-2A>G
|
|
|
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.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.530dup (p.His178fs)
|
|
|
NM_002435.3(MPI):c.56_65del (p.Gly19fs)
|
|
|
NM_002435.3(MPI):c.631del (p.Glu211fs)
|
rs1374119101
|
|
NM_002435.3(MPI):c.679G>T (p.Gly227Ter)
|
|
|
NM_002435.3(MPI):c.713del (p.Leu238fs)
|
rs745432667
|
|
NM_002435.3(MPI):c.764A>G (p.Tyr255Cys)
|
|
|
NM_002435.3(MPI):c.818delinsTC (p.Asn273fs)
|
|
|
NM_002435.3(MPI):c.844+2T>C
|
|
|
NM_002435.3(MPI):c.845-2A>G
|
rs2064828055
|
|
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.95C>T (p.Ala32Val)
|
rs1596440893
|
|
NM_002435.3(MPI):c.973del (p.Leu325fs)
|
|
|
NM_003859.3(DPM1):c.515C>G (p.Thr172Ser)
|
rs1985671191
|
|
NM_004341.5(CAD):c.1100G>A (p.Gly367Asp)
|
rs766915720
|
|
NM_004341.5(CAD):c.208T>C (p.Phe70Leu)
|
rs1674954573
|
|
NM_004341.5(CAD):c.223-2A>G
|
rs1675149924
|
|
NM_004341.5(CAD):c.2401-5A>G
|
rs759687469
|
|
NM_004341.5(CAD):c.4669C>G (p.Leu1557Val)
|
rs199990394
|
|
NM_004341.5(CAD):c.6329G>T (p.Arg2110Leu)
|
rs759380014
|
|
NM_004870.4(MPDU1):c.66C>G (p.Cys22Trp)
|
rs1388629959
|
|
NM_005787.6(ALG3):c.296+5G>A
|
rs1719108178
|
|
NM_005787.6(ALG3):c.626T>C (p.Met209Thr)
|
rs1553828467
|
|
NM_005787.6(ALG3):c.985C>G (p.Pro329Ala)
|
rs751758378
|
|
NM_006280.3(SSR4):c.270G>A (p.Trp90Ter)
|
|
|
NM_006280.3(SSR4):c.417+1G>A
|
rs1057518735
|
|
NM_007347.5(AP4E1):c.3313C>T (p.Arg1105Ter)
|
rs1313275799
|
|
NM_013339.4(ALG6):c.1006_1007del (p.Phe336fs)
|
rs1644562014
|
|
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.1113del (p.Val372fs)
|
|
|
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.347-2A>G
|
|
|
NM_013339.4(ALG6):c.428del (p.Lys143fs)
|
rs1471326272
|
|
NM_013339.4(ALG6):c.493del (p.Gln165fs)
|
|
|
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.658A>T (p.Lys220Ter)
|
|
|
NM_013339.4(ALG6):c.663del (p.Gly222fs)
|
|
|
NM_013339.4(ALG6):c.665_669dup (p.Lys224fs)
|
|
|
NM_013339.4(ALG6):c.680+1del
|
|
|
NM_013339.4(ALG6):c.684del (p.Phe228fs)
|
rs2100421533
|
|
NM_013339.4(ALG6):c.738G>A (p.Trp246Ter)
|
|
|
NM_013339.4(ALG6):c.772C>T (p.Gln258Ter)
|
|
|
NM_013339.4(ALG6):c.796_799dup (p.Asp267delinsGlyTer)
|
rs2100421727
|
|
NM_013339.4(ALG6):c.82+1G>A
|
|
|
NM_013339.4(ALG6):c.82_82+8del
|
rs1424742651
|
|
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.987+1G>T
|
|
|
NM_013339.4(ALG6):c.988G>T (p.Val330Phe)
|
rs1057518724
|
|
NM_014908.4(DOLK):c.-15C>T
|
rs1272594617
|
|
NM_019109.5(ALG1):c.950G>T (p.Cys317Phe)
|
|
|
NM_019109.5(ALG1):c.988A>G (p.Ser330Gly)
|
rs764029645
|
|
NM_024079.5(ALG8):c.121C>T (p.Arg41Ter)
|
rs200888240
|
|
NM_024079.5(ALG8):c.97C>T (p.His33Tyr)
|
|
|
NM_024105.4(ALG12):c.930_931del (p.Arg311fs)
|
rs1569174722
|
|
NM_024592.5(SRD5A3):c.416A>G (p.His139Arg)
|
rs1719786702
|
|
NM_024740.2(ALG9):c.1091A>G (p.Gln364Arg)
|
rs1956094478
|
|
NM_024740.2(ALG9):c.125G>C (p.Arg42Pro)
|
rs781880611
|
|
NM_024740.2(ALG9):c.917A>G (p.Tyr306Cys)
|
|
|
NM_033087.4(ALG2):c.1064A>G (p.His355Arg)
|
rs1246812091
|
|
NM_052859.4(RFT1):c.1154A>G (p.Asn385Ser)
|
|
|
NM_152713.5(STT3A):c.415A>C (p.Lys139Gln)
|
rs1939729667
|
|