ENST00000313771.10:n.1090G>T
|
|
|
ENST00000355740.8:c.*104G>T
|
ENSP00000347979.3:n.*104G>T
|
|
ENST00000357339.7:c.718G>T
|
ENSP00000349896.2:p.Glu240Ter
|
|
ENST00000371857.8:n.2326G>T
|
|
|
ENST00000460510.6:c.64G>T
|
ENSP00000512812.1:p.Glu22Ter
|
|
ENST00000466081.6:n.2430G>T
|
|
|
ENST00000477270.6:c.826G>T
|
ENSP00000512813.1:p.Glu276Ter
|
|
ENST00000479522.6:c.*210G>T
|
ENSP00000424113.1:n.*210G>T
|
|
ENST00000484444.6:c.*222G>T
|
ENSP00000420975.1:n.*222G>T
|
|
ENST00000488877.6:c.672G>T
|
ENSP00000425159.1:n.672G>T
|
|
ENST00000492756.7:c.*210G>T
|
ENSP00000422453.1:n.*210G>T
|
|
ENST00000494799.6:c.64G>T
|
ENSP00000512834.1:p.Glu22Ter
|
|
ENST00000562983.3:c.64G>T
|
ENSP00000512845.1:p.Glu22Ter
|
|
ENST00000612663.6:c.*183G>T
|
ENSP00000477997.3:n.*183G>T
|
|
ENST00000640140.2:n.926G>T
|
|
|
ENST00000640250.2:n.280G>T
|
|
|
ENST00000640681.2:n.885G>T
|
|
|
ENST00000696723.1:n.4414G>T
|
|
|
ENST00000696741.1:n.2419G>T
|
|
|
ENST00000696742.1:n.2146G>T
|
|
|
ENST00000696743.1:n.3549G>T
|
|
|
ENST00000696744.1:n.820G>T
|
|
|
ENST00000696767.1:n.1115G>T
|
|
|
ENST00000696768.1:c.*104G>T
|
ENSP00000512859.1:n.*104G>T
|
|
ENST00000696769.1:n.2470G>T
|
|
|
ENST00000696771.1:c.64G>T
|
ENSP00000512860.1:p.Glu22Ter
|
|
ENST00000696772.1:n.2384G>T
|
|
|
ENST00000696773.1:n.2123G>T
|
|
|
ENST00000696774.1:n.5891G>T
|
|
|
ENST00000696776.1:c.874G>T
|
ENSP00000512861.1:p.Glu292Ter
|
|
ENST00000696777.1:n.2189G>T
|
|
|
ENST00000696778.1:n.1217G>T
|
|
|
ENST00000696779.1:c.388G>T
|
ENSP00000512862.1:p.Glu130Ter
|
|
ENST00000696780.1:c.811G>T
|
ENSP00000512863.1:p.Glu271Ter
|
|
ENST00000696781.1:c.526G>T
|
ENSP00000512864.1:p.Glu176Ter
|
|
ENST00000696782.1:c.*183G>T
|
ENSP00000512865.1:n.*183G>T
|
|
ENST00000696783.1:n.2649G>T
|
|
|
ENST00000696992.1:n.1898G>T
|
|
|
ENST00000696995.1:n.4310G>T
|
|
|
ENST00000696996.1:n.2223G>T
|
|
|
ENST00000696997.1:c.*411G>T
|
ENSP00000513028.1:n.*411G>T
|
|
ENST00000696998.1:n.2035G>T
|
|
|
ENST00000696999.1:c.64G>T
|
ENSP00000513029.1:p.Glu22Ter
|
|
ENST00000697035.1:c.*114G>T
|
ENSP00000513059.1:n.*114G>T
|
|
ENST00000697036.1:c.*197G>T
|
ENSP00000513060.1:n.*197G>T
|
|
ENST00000697037.1:n.816G>T
|
|
|
ENST00000697093.1:n.3017G>T
|
|
|
ENST00000697094.1:n.3364G>T
|
|
|
ENST00000697095.1:c.*1982G>T
|
ENSP00000513104.1:n.*1982G>T
|
|
ENST00000697096.1:n.1914G>T
|
|
|
ENST00000697097.1:c.64G>T
|
ENSP00000513105.1:p.Glu22Ter
|
|
ENST00000562983.2:n.967G>T
|
|
|
ENST00000690268.1:c.862G>T
|
ENSP00000509810.1:p.Glu288Ter
|
|
ENST00000355740.7:c.*107G>T
|
ENSP00000347979.3:n.*107G>T
|
|
ENST00000612663.5:c.*183G>T
|
ENSP00000477997.3:n.*183G>T
|
|
ENST00000640140.1:n.953G>T
|
|
|
ENST00000640250.1:n.280G>T
|
|
|
ENST00000640681.1:n.902G>T
|
|
|
ENST00000652046.1:c.781G>T
MANE Select
|
ENSP00000498466.1:p.Glu261Ter
|
|
ENST00000352159.8:c.*98G>T
|
ENSP00000345601.4:n.*98G>T
|
|
ENST00000355279.2:c.756G>T
|
ENSP00000347426.2:n.756G>T
|
|
ENST00000355740.6:c.781G>T
|
ENSP00000347979.2:p.Glu261Ter
|
|
ENST00000357339.6:c.718G>T
|
ENSP00000349896.2:p.Glu240Ter
|
|
ENST00000479522.5:c.*210G>T
|
ENSP00000424113.1:n.*210G>T
|
|
ENST00000484444.5:c.*222G>T
|
ENSP00000420975.1:n.*222G>T
|
|
ENST00000488877.5:c.*222G>T
|
ENSP00000425159.1:n.*222G>T
|
|
ENST00000492756.5:c.609G>T
|
ENSP00000422453.1:n.609G>T
|
|
ENST00000494410.5:c.*139G>T
|
ENSP00000423755.1:n.*139G>T
|
|
ENST00000612663.4:c.*128G>T
|
ENSP00000477997.2:n.*128G>T
|
|
NM_000043.4:c.781G>T , LRG_134t1:c.781G>T
|
NP_000034.1:p.Glu261Ter
|
|
NM_152871.2:c.718G>T
|
NP_690610.1:p.Glu240Ter
|
|
NM_152872.2:c.*93G>T
|
NP_690611.1:n.*93G>T
|
|
NR_028033.2:n.955G>T
|
|
|
NR_028034.2:n.817G>T
|
|
|
NR_028035.2:n.880G>T
|
|
|
NR_028036.2:n.1018G>T
|
|
|
XM_006717819.2:c.862G>T
|
XP_006717882.1:p.Glu288Ter
|
|
XM_011539764.1:c.943G>T
|
XP_011538066.1:p.Glu315Ter
|
|
XM_011539765.1:c.880G>T
|
XP_011538067.1:p.Glu294Ter
|
|
XM_011539766.1:c.862G>T
|
XP_011538068.1:p.Glu288Ter
|
|
XM_011539767.1:c.826G>T
|
XP_011538069.1:p.Glu276Ter
|
|
XR_945732.1:n.849G>T
|
|
|
XR_945733.1:n.786G>T
|
|
|
NM_000043.5:c.781G>T
|
NP_000034.1:p.Glu261Ter
|
|
NM_001320619.1:c.*104G>T
|
NP_001307548.1:n.*104G>T
|
|
NM_152871.3:c.718G>T
|
NP_690610.1:p.Glu240Ter
|
|
NM_152872.3:c.*93G>T
|
NP_690611.1:n.*93G>T
|
|
NR_028033.3:n.927G>T
|
|
|
NR_028034.3:n.789G>T
|
|
|
NR_028035.3:n.852G>T
|
|
|
NR_028036.3:n.990G>T
|
|
|
NR_135313.1:n.907G>T
|
|
|
NR_135314.1:n.1090G>T
|
|
|
NR_135315.1:n.843G>T
|
|
|
XM_006717819.3:c.862G>T
|
XP_006717882.1:p.Glu288Ter
|
|
XM_011539764.2:c.943G>T
|
XP_011538066.1:p.Glu315Ter
|
|
XM_011539765.2:c.880G>T
|
XP_011538067.1:p.Glu294Ter
|
|
XM_011539766.2:c.862G>T
|
XP_011538068.1:p.Glu288Ter
|
|
XM_011539767.3:c.826G>T
|
XP_011538069.1:p.Glu276Ter
|
|
XR_945732.3:n.849G>T
|
|
|
XR_945733.2:n.786G>T
|
|
|
NM_000043.6:c.781G>T
MANE Select
|
NP_000034.1:p.Glu261Ter
|
|
NM_001320619.2:c.*104G>T
|
NP_001307548.1:n.*104G>T
|
|
NM_152871.4:c.718G>T
|
NP_690610.1:p.Glu240Ter
|
|
NM_152872.4:c.*93G>T
|
NP_690611.1:n.*93G>T
|
|
NR_028033.4:n.688G>T
|
|
|
NR_028034.4:n.550G>T
|
|
|
NR_028035.4:n.613G>T
|
|
|
NR_028036.4:n.751G>T
|
|
|
NR_135313.2:n.668G>T
|
|
|
NR_135314.2:n.947G>T
|
|
|
NR_135315.2:n.700G>T
|
|
|