|
ENST00000504780.6:c.*524T>C
(PGM3)
|
ENSP00000421154.2:n.*524T>C
|
|
|
ENST00000505470.6:c.*2334T>C
(PGM3)
|
ENSP00000423769.1:n.*2334T>C
|
|
|
ENST00000507554.2:c.1573T>C
(PGM3)
|
ENSP00000425558.2:p.Leu525=
|
|
|
ENST00000508748.6:c.1657T>C
(PGM3)
|
ENSP00000424865.2:p.Leu553=
|
|
|
ENST00000651204.2:c.*311T>C
(PGM3)
|
ENSP00000498912.2:n.*311T>C
|
|
|
ENST00000651698.2:c.*524T>C
(PGM3)
|
ENSP00000498398.2:n.*524T>C
|
|
|
ENST00000652222.2:c.1474T>C
(PGM3)
|
ENSP00000499141.2:p.Leu492=
|
|
|
ENST00000698524.1:c.1573T>C
(PGM3)
|
ENSP00000513773.1:p.Leu525=
|
|
|
ENST00000698525.1:c.*970T>C
(PGM3)
|
ENSP00000513774.1:n.*970T>C
|
|
|
ENST00000698526.1:c.*970T>C
(PGM3)
|
ENSP00000513775.1:n.*970T>C
|
|
|
ENST00000698599.1:c.1573T>C
(PGM3)
|
ENSP00000513827.1:p.Leu525=
|
|
|
ENST00000698600.1:c.*524T>C
(PGM3)
|
ENSP00000513828.1:n.*524T>C
|
|
|
ENST00000698601.1:c.*1152T>C
(PGM3)
|
ENSP00000513829.1:n.*1152T>C
|
|
|
ENST00000698602.1:c.1573T>C
(PGM3)
|
ENSP00000513830.1:p.Leu525=
|
|
|
ENST00000698603.1:c.*1349T>C
(PGM3)
|
ENSP00000513831.1:n.*1349T>C
|
|
|
ENST00000698604.1:c.*1111T>C
(PGM3)
|
ENSP00000513832.1:n.*1111T>C
|
|
|
ENST00000698605.1:c.*1353T>C
(PGM3)
|
ENSP00000513833.1:n.*1353T>C
|
|
|
ENST00000698606.1:n.3422T>C
(PGM3)
|
|
|
|
ENST00000698607.1:c.*1998T>C
(PGM3)
|
ENSP00000513834.1:n.*1998T>C
|
|
|
ENST00000698608.1:c.1231T>C
(PGM3)
|
ENSP00000513835.1:p.Leu411=
|
|
|
ENST00000698609.1:c.*2031T>C
(PGM3)
|
ENSP00000513836.1:n.*2031T>C
|
|
|
ENST00000698610.1:c.1330T>C
(PGM3)
|
ENSP00000513837.1:p.Leu444=
|
|
|
ENST00000698611.1:n.5210T>C
(PGM3)
|
|
|
|
ENST00000698612.1:c.1135T>C
(PGM3)
|
ENSP00000513838.1:p.Leu379=
|
|
|
ENST00000698613.1:c.*970T>C
(PGM3)
|
ENSP00000513839.1:n.*970T>C
|
|
|
ENST00000698614.1:c.*1505T>C
(PGM3)
|
ENSP00000513840.1:n.*1505T>C
|
|
|
ENST00000698615.1:c.*1172T>C
(PGM3)
|
ENSP00000513841.1:n.*1172T>C
|
|
|
ENST00000283977.9:c.*8T>C
(PGM3)
|
ENSP00000283977.5:n.*8T>C
|
|
|
ENST00000513973.6:c.1573T>C
(PGM3)
MANE Select
|
ENSP00000424874.1:p.Leu525=
|
|
|
ENST00000616566.5:c.1207T>C
(PGM3)
|
ENSP00000477539.2:p.Leu403=
|
|
|
ENST00000650640.1:c.*557T>C
(PGM3)
|
ENSP00000498423.1:n.*557T>C
|
|
|
ENST00000650642.1:c.1450T>C
(PGM3)
|
ENSP00000498516.1:p.Leu484=
|
|
|
ENST00000651204.1:c.1069T>C
(PGM3)
|
|
|
|
ENST00000651425.1:c.1330T>C
(PGM3)
|
ENSP00000498986.1:p.Leu444=
|
|
|
ENST00000651698.1:c.687T>C
(PGM3)
|
|
|
|
ENST00000652222.1:c.1228T>C
(PGM3)
|
ENSP00000499141.1:p.Leu410=
|
|
|
ENST00000283977.8:c.1330T>C
(PGM3)
|
ENSP00000283977.4:p.Leu444=
|
|
|
ENST00000484282.1:n.4355-188A>G
(DOP1A)
|
|
|
|
ENST00000504780.5:c.285T>C
(PGM3)
|
|
|
|
ENST00000506587.5:c.1657T>C
(PGM3)
|
ENSP00000425809.1:p.Leu553=
|
|
|
ENST00000512866.5:c.1573T>C
(PGM3)
|
ENSP00000421565.1:p.Leu525=
|
|
|
ENST00000513973.5:c.1573T>C
(PGM3)
|
ENSP00000424874.1:p.Leu525=
|
|
|
ENST00000616566.4:c.*8T>C
(PGM3)
|
ENSP00000477539.1:n.*8T>C
|
|
|
NM_001199917.1:c.1657T>C
(PGM3)
|
NP_001186846.1:p.Leu553=
|
|
|
NM_001199918.1:c.*8T>C
(PGM3)
|
NP_001186847.1:n.*8T>C
|
|
|
NM_001199919.1:c.1573T>C
(PGM3)
|
NP_001186848.1:p.Leu525=
|
|
|
NM_015599.2:c.1573T>C
(PGM3)
|
NP_056414.1:p.Leu525=
|
|
|
XM_011535901.1:c.1657T>C
(PGM3)
|
XP_011534203.1:p.Leu553=
|
|
|
XM_011535902.1:c.1657T>C
(PGM3)
|
XP_011534204.1:p.Leu553=
|
|
|
XM_011535903.1:c.1657T>C
(PGM3)
|
XP_011534205.1:p.Leu553=
|
|
|
XR_942476.1:n.1814T>C
(PGM3)
|
|
|
|
XR_942477.1:n.1799T>C
(PGM3)
|
|
|
|
XR_942478.1:n.1663T>C
(PGM3)
|
|
|
|
XR_942479.1:n.1689T>C
(PGM3)
|
|
|
|
XR_942480.1:n.1457T>C
(PGM3)
|
|
|
|
XM_011535619.2:c.*590-188A>G
(DOP1A)
|
XP_011533921.1:n.*590-188A>G
|
|
|
XM_017010559.1:c.*590-188A>G
(DOP1A)
|
XP_016866048.1:n.*590-188A>G
|
|
|
XM_017010560.2:c.*590-188A>G
(DOP1A)
|
XP_016866049.1:n.*590-188A>G
|
|
|
XM_017010561.1:c.*590-188A>G
(DOP1A)
|
XP_016866050.1:n.*590-188A>G
|
|
|
XM_017010562.2:c.*590-188A>G
(DOP1A)
|
XP_016866051.1:n.*590-188A>G
|
|
|
XM_017010564.1:c.*590-188A>G
(DOP1A)
|
XP_016866053.1:n.*590-188A>G
|
|
|
XM_017010566.1:c.*590-188A>G
(DOP1A)
|
XP_016866055.1:n.*590-188A>G
|
|
|
XM_017010570.1:c.*590-188A>G
(DOP1A)
|
XP_016866059.1:n.*590-188A>G
|
|
|
XM_017010571.1:c.*590-188A>G
(DOP1A)
|
XP_016866060.1:n.*590-188A>G
|
|
|
XM_017010572.1:c.*590-188A>G
(DOP1A)
|
XP_016866061.1:n.*590-188A>G
|
|
|
XM_017010935.1:c.1330T>C
(PGM3)
|
XP_016866424.1:p.Leu444=
|
|
|
XM_017010937.1:c.1207T>C
(PGM3)
|
XP_016866426.1:p.Leu403=
|
|
|
XM_024446459.1:c.1450T>C
(PGM3)
|
XP_024302227.1:p.Leu484=
|
|
|
XM_024446460.1:c.1657T>C
(PGM3)
|
XP_024302228.1:p.Leu553=
|
|
|
XR_001743468.2:n.1457T>C
(PGM3)
|
|
|
|
XR_942478.3:n.1663T>C
(PGM3)
|
|
|
|
XR_942480.2:n.1457T>C
(PGM3)
|
|
|
|
NM_001199917.2:c.1657T>C
(PGM3)
|
NP_001186846.1:p.Leu553=
|
|
|
NM_001367286.1:c.1450T>C
(PGM3)
|
NP_001354215.1:p.Leu484=
|
|
|
NM_001367287.1:c.1657T>C
(PGM3)
|
NP_001354216.1:p.Leu553=
|
|
|
NM_015599.3:c.1573T>C
(PGM3)
MANE Select
|
NP_056414.1:p.Leu525=
|
|
|
NR_159812.1:n.1662T>C
(PGM3)
|
|
|
|
NM_001199918.2:c.*8T>C
(PGM3)
|
NP_001186847.1:n.*8T>C
|
|
|
NM_001199919.2:c.1573T>C
(PGM3)
|
NP_001186848.1:p.Leu525=
|
|
|
NR_159812.2:n.1662T>C
(PGM3)
|
|
|
|
NR_169791.1:n.8216-188A>G
(DOP1A)
|
|
|
