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_000303.3(PMM2):c.722G>C (p.Cys241Ser)
|
rs80338709
|
0.00027
|
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.442G>A (p.Asp148Asn)
|
rs148032587
|
0.00014
|
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.24del (p.Cys9fs)
|
rs768021123
|
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_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.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_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.458T>C (p.Ile153Thr)
|
rs150577656
|
0.00001
|
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser)
|
rs532870929
|
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_002435.3(MPI):c.488-1G>C
|
rs759579169
|
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_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.179-1G>C
|
|
|
NM_000303.3(PMM2):c.196dup (p.Tyr66fs)
|
|
|
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser)
|
rs769648248
|
|
NM_000303.3(PMM2):c.243_244del (p.Leu82fs)
|
rs2060637616
|
|
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr)
|
rs104894532
|
|
NM_000303.3(PMM2):c.385G>A (p.Val129Met)
|
rs104894525
|
|
NM_000303.3(PMM2):c.451_454del
|
rs1274794195
|
|
NM_000303.3(PMM2):c.458_462del (p.Ile153fs)
|
rs774738702
|
|
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile)
|
rs78290141
|
|
NM_000303.3(PMM2):c.64C>T (p.Gln22Ter)
|
|
|
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.713G>C (p.Arg238Pro)
|
rs151319324
|
|
NM_002435.3(MPI):c.166dup (p.Arg56fs)
|
rs786204593
|
|
NM_002435.3(MPI):c.631del (p.Glu211fs)
|
rs1374119101
|
|
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.894AAT[1] (p.Ile299del)
|
rs387906338
|
|
NM_024079.5(ALG8):c.121C>T (p.Arg41Ter)
|
rs200888240
|
|
NM_024105.4(ALG12):c.930_931del (p.Arg311fs)
|
rs1569174722
|
|