NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
NM_013339.4(ALG6):c.257+5G>A
|
rs199682486
|
0.00065
|
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.722G>C (p.Cys241Ser)
|
rs80338709
|
0.00027
|
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_000303.3(PMM2):c.255+2T>C
|
rs139716296
|
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_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_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_013339.4(ALG6):c.1249del (p.Gln417fs)
|
rs771069984
|
0.00003
|
NM_019109.5(ALG1):c.826C>T (p.Arg276Trp)
|
rs151173406
|
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_003859.3(DPM1):c.455G>T (p.Gly152Val)
|
rs587777116
|
0.00002
|
NM_013339.4(ALG6):c.257+2dup
|
rs745426479
|
0.00002
|
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.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.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.620T>C (p.Phe207Ser)
|
rs532870929
|
0.00001
|
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala)
|
rs398123309
|
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.739C>T (p.Arg247Trp)
|
rs772988029
|
0.00001
|
NM_013339.4(ALG6):c.680G>A (p.Gly227Glu)
|
rs372079206
|
0.00001
|
NM_019109.5(ALG1):c.1312C>T (p.Arg438Trp)
|
rs16835020
|
0.00001
|
NM_019109.5(ALG1):c.598C>T (p.Arg200Ter)
|
rs1474783444
|
0.00001
|
NM_019109.5(ALG1):c.901+1G>A
|
rs1227251669
|
0.00001
|
NC_000011.9:g.(118971849_118972204)_(118972786_?)del
|
|
|
NC_000016.9:g.(8900265_8904935)_(8943195_?)del
|
|
|
NC_000016.9:g.(8906964_8941580)_(8943195_?)del
|
|
|
NM_000303.3(PMM2):c.131T>C (p.Val44Ala)
|
rs104894534
|
|
NM_000303.3(PMM2):c.160dup (p.Glu54fs)
|
rs753122961
|
|
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr)
|
rs104894532
|
|
NM_000303.3(PMM2):c.324del (p.Ile110fs)
|
rs1555449314
|
|
NM_000303.3(PMM2):c.385G>A (p.Val129Met)
|
rs104894525
|
|
NM_000303.3(PMM2):c.392del (p.Pro131fs)
|
rs1555449607
|
|
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys)
|
rs80338703
|
|
NM_000303.3(PMM2):c.448-1_448del
|
rs1414007551
|
|
NM_000303.3(PMM2):c.451_454del
|
rs1274794195
|
|
NM_000303.3(PMM2):c.527G>T (p.Gly176Val)
|
rs940938678
|
|
NM_000303.3(PMM2):c.566_571delinsGTGGATTTCC (p.Lys189fs)
|
rs2060686245
|
|
NM_000303.3(PMM2):c.640G>C (p.Gly214Arg)
|
|
|
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile)
|
rs78290141
|
|
NM_000303.3(PMM2):c.667G>A (p.Asp223Asn)
|
|
|
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.710C>G (p.Thr237Arg)
|
rs80338708
|
|
NM_000303.3(PMM2):c.710C>T (p.Thr237Met)
|
rs80338708
|
|
NM_000303.3(PMM2):c.95_96delinsGC (p.Leu32Arg)
|
rs398123312
|
|
NM_002435.3(MPI):c.199dup (p.Ser67fs)
|
|
|
NM_002435.3(MPI):c.497_498del (p.Glu166fs)
|
rs2141200280
|
|
NM_002633.3(PGM1):c.87_88del (p.Phe29fs)
|
rs1570463842
|
|
NM_002633.3(PGM1):c.87_94del (p.Phe29fs)
|
|
|
NM_019109.5(ALG1):c.1150G>A (p.Gly384Arg)
|
rs1057520122
|
|
NM_019109.5(ALG1):c.115del (p.Val39fs)
|
rs886042130
|
|
NM_019109.5(ALG1):c.1188-1G>A
|
rs2142728485
|
|
NM_024105.4(ALG12):c.1156dup (p.Gln386fs)
|
rs770711819
|
|