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.368G>A (p.Arg123Gln)
|
rs141498002
|
0.00017
|
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.91T>C (p.Phe31Leu)
|
rs749720760
|
0.00005
|
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_000303.3(PMM2):c.255+1G>A
|
rs1060499598
|
0.00002
|
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_013339.4(ALG6):c.680+2T>G
|
rs868768232
|
0.00001
|
NM_013339.4(ALG6):c.680G>A (p.Gly227Glu)
|
rs372079206
|
0.00001
|
NM_000303.3(PMM2):c.228C>A (p.Tyr76Ter)
|
|
|
NM_000303.3(PMM2):c.250A>T (p.Arg84Ter)
|
|
|
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.325A>T (p.Lys109Ter)
|
|
|
NM_000303.3(PMM2):c.340A>T (p.Lys114Ter)
|
|
|
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)
|
rs80338708
|
|
NM_000303.3(PMM2):c.76A>T (p.Lys26Ter)
|
|
|
NM_013339.4(ALG6):c.1013T>A (p.Leu338Ter)
|
|
|
NM_013339.4(ALG6):c.1076T>A (p.Leu359Ter)
|
|
|
NM_013339.4(ALG6):c.232del (p.Tyr78fs)
|
|
|
NM_013339.4(ALG6):c.285_286insTATAAACTTT (p.Ala96fs)
|
|
|
NM_013339.4(ALG6):c.350T>A (p.Leu117Ter)
|
|
|
NM_013339.4(ALG6):c.654T>A (p.Cys218Ter)
|
|
|
NM_013339.4(ALG6):c.657del (p.Phe219fs)
|
|
|
NM_013339.4(ALG6):c.670A>T (p.Lys224Ter)
|
|
|
NM_013339.4(ALG6):c.820A>T (p.Lys274Ter)
|
|
|
NM_013339.4(ALG6):c.893T>A (p.Leu298Ter)
|
|
|
NM_013339.4(ALG6):c.947T>G (p.Leu316Ter)
|
|
|
NM_013339.4(ALG6):c.947_950del (p.Leu316fs)
|
|
|