|
ENST00000313771.10:n.1190T>G
|
|
|
|
ENST00000355740.8:c.*204T>G
|
ENSP00000347979.3:n.*204T>G
|
|
|
ENST00000357339.7:c.818T>G
|
ENSP00000349896.2:p.Leu273Trp
|
|
|
ENST00000371857.8:n.2426T>G
|
|
|
|
ENST00000460510.6:c.164T>G
|
ENSP00000512812.1:p.Leu55Trp
|
|
|
ENST00000466081.6:n.2530T>G
|
|
|
|
ENST00000477270.6:c.926T>G
|
ENSP00000512813.1:p.Leu309Trp
|
|
|
ENST00000479522.6:c.*310T>G
|
ENSP00000424113.1:n.*310T>G
|
|
|
ENST00000484444.6:c.*322T>G
|
ENSP00000420975.1:n.*322T>G
|
|
|
ENST00000488877.6:c.772T>G
|
ENSP00000425159.1:n.772T>G
|
|
|
ENST00000492756.7:c.*310T>G
|
ENSP00000422453.1:n.*310T>G
|
|
|
ENST00000494799.6:c.164T>G
|
ENSP00000512834.1:p.Leu55Trp
|
|
|
ENST00000562983.3:c.164T>G
|
ENSP00000512845.1:p.Leu55Trp
|
|
|
ENST00000612663.6:c.*283T>G
|
ENSP00000477997.3:n.*283T>G
|
|
|
ENST00000640140.2:n.1026T>G
|
|
|
|
ENST00000640250.2:n.380T>G
|
|
|
|
ENST00000640681.2:n.985T>G
|
|
|
|
ENST00000696723.1:n.4514T>G
|
|
|
|
ENST00000696741.1:n.2519T>G
|
|
|
|
ENST00000696742.1:n.2246T>G
|
|
|
|
ENST00000696743.1:n.3649T>G
|
|
|
|
ENST00000696744.1:n.920T>G
|
|
|
|
ENST00000696767.1:n.1215T>G
|
|
|
|
ENST00000696768.1:c.*204T>G
|
ENSP00000512859.1:n.*204T>G
|
|
|
ENST00000696769.1:n.2570T>G
|
|
|
|
ENST00000696771.1:c.164T>G
|
ENSP00000512860.1:p.Leu55Trp
|
|
|
ENST00000696772.1:n.2484T>G
|
|
|
|
ENST00000696773.1:n.2223T>G
|
|
|
|
ENST00000696774.1:n.5991T>G
|
|
|
|
ENST00000696776.1:c.974T>G
|
ENSP00000512861.1:p.Leu325Trp
|
|
|
ENST00000696777.1:n.2289T>G
|
|
|
|
ENST00000696778.1:n.1317T>G
|
|
|
|
ENST00000696779.1:c.488T>G
|
ENSP00000512862.1:p.Leu163Trp
|
|
|
ENST00000696780.1:c.911T>G
|
ENSP00000512863.1:p.Leu304Trp
|
|
|
ENST00000696781.1:c.626T>G
|
ENSP00000512864.1:p.Leu209Trp
|
|
|
ENST00000696782.1:c.*283T>G
|
ENSP00000512865.1:n.*283T>G
|
|
|
ENST00000696783.1:n.2749T>G
|
|
|
|
ENST00000696992.1:n.1998T>G
|
|
|
|
ENST00000696995.1:n.4410T>G
|
|
|
|
ENST00000696996.1:n.2323T>G
|
|
|
|
ENST00000696997.1:c.*511T>G
|
ENSP00000513028.1:n.*511T>G
|
|
|
ENST00000696998.1:n.2135T>G
|
|
|
|
ENST00000696999.1:c.164T>G
|
ENSP00000513029.1:p.Leu55Trp
|
|
|
ENST00000697036.1:c.*297T>G
|
ENSP00000513060.1:n.*297T>G
|
|
|
ENST00000697037.1:n.916T>G
|
|
|
|
ENST00000697093.1:n.3117T>G
|
|
|
|
ENST00000697094.1:n.3464T>G
|
|
|
|
ENST00000697095.1:c.*2082T>G
|
ENSP00000513104.1:n.*2082T>G
|
|
|
ENST00000697096.1:n.2014T>G
|
|
|
|
ENST00000697097.1:c.164T>G
|
ENSP00000513105.1:p.Leu55Trp
|
|
|
ENST00000562983.2:n.1067T>G
|
|
|
|
ENST00000690268.1:c.962T>G
|
ENSP00000509810.1:p.Leu321Trp
|
|
|
ENST00000355740.7:c.*207T>G
|
ENSP00000347979.3:n.*207T>G
|
|
|
ENST00000612663.5:c.*283T>G
|
ENSP00000477997.3:n.*283T>G
|
|
|
ENST00000640140.1:n.1053T>G
|
|
|
|
ENST00000640250.1:n.380T>G
|
|
|
|
ENST00000640681.1:n.1002T>G
|
|
|
|
ENST00000652046.1:c.881T>G
MANE Select
|
ENSP00000498466.1:p.Leu294Trp
|
|
|
ENST00000352159.8:c.*198T>G
|
ENSP00000345601.4:n.*198T>G
|
|
|
ENST00000355279.2:c.856T>G
|
ENSP00000347426.2:n.856T>G
|
|
|
ENST00000355740.6:c.881T>G
|
ENSP00000347979.2:p.Leu294Trp
|
|
|
ENST00000357339.6:c.818T>G
|
ENSP00000349896.2:p.Leu273Trp
|
|
|
ENST00000479522.5:c.*310T>G
|
ENSP00000424113.1:n.*310T>G
|
|
|
ENST00000484444.5:c.*322T>G
|
ENSP00000420975.1:n.*322T>G
|
|
|
ENST00000488877.5:c.*322T>G
|
ENSP00000425159.1:n.*322T>G
|
|
|
ENST00000492756.5:c.709T>G
|
ENSP00000422453.1:n.709T>G
|
|
|
ENST00000494410.5:c.*239T>G
|
ENSP00000423755.1:n.*239T>G
|
|
|
ENST00000612663.4:c.*228T>G
|
ENSP00000477997.2:n.*228T>G
|
|
|
NM_000043.4:c.881T>G , LRG_134t1:c.881T>G
|
NP_000034.1:p.Leu294Trp
|
|
|
NM_152871.2:c.818T>G
|
NP_690610.1:p.Leu273Trp
|
|
|
NM_152872.2:c.*193T>G
|
NP_690611.1:n.*193T>G
|
|
|
NR_028033.2:n.1055T>G
|
|
|
|
NR_028034.2:n.917T>G
|
|
|
|
NR_028035.2:n.980T>G
|
|
|
|
NR_028036.2:n.1118T>G
|
|
|
|
XM_006717819.2:c.962T>G
|
XP_006717882.1:p.Leu321Trp
|
|
|
XM_011539764.1:c.1043T>G
|
XP_011538066.1:p.Leu348Trp
|
|
|
XM_011539765.1:c.980T>G
|
XP_011538067.1:p.Leu327Trp
|
|
|
XM_011539766.1:c.962T>G
|
XP_011538068.1:p.Leu321Trp
|
|
|
XM_011539767.1:c.926T>G
|
XP_011538069.1:p.Leu309Trp
|
|
|
XR_945732.1:n.949T>G
|
|
|
|
XR_945733.1:n.886T>G
|
|
|
|
NM_000043.5:c.881T>G
|
NP_000034.1:p.Leu294Trp
|
|
|
NM_001320619.1:c.*204T>G
|
NP_001307548.1:n.*204T>G
|
|
|
NM_152871.3:c.818T>G
|
NP_690610.1:p.Leu273Trp
|
|
|
NM_152872.3:c.*193T>G
|
NP_690611.1:n.*193T>G
|
|
|
NR_028033.3:n.1027T>G
|
|
|
|
NR_028034.3:n.889T>G
|
|
|
|
NR_028035.3:n.952T>G
|
|
|
|
NR_028036.3:n.1090T>G
|
|
|
|
NR_135313.1:n.1007T>G
|
|
|
|
NR_135314.1:n.1190T>G
|
|
|
|
NR_135315.1:n.943T>G
|
|
|
|
XM_006717819.3:c.962T>G
|
XP_006717882.1:p.Leu321Trp
|
|
|
XM_011539764.2:c.1043T>G
|
XP_011538066.1:p.Leu348Trp
|
|
|
XM_011539765.2:c.980T>G
|
XP_011538067.1:p.Leu327Trp
|
|
|
XM_011539766.2:c.962T>G
|
XP_011538068.1:p.Leu321Trp
|
|
|
XM_011539767.3:c.926T>G
|
XP_011538069.1:p.Leu309Trp
|
|
|
XR_945732.3:n.949T>G
|
|
|
|
XR_945733.2:n.886T>G
|
|
|
|
NM_000043.6:c.881T>G
MANE Select
|
NP_000034.1:p.Leu294Trp
|
|
|
NM_001320619.2:c.*204T>G
|
NP_001307548.1:n.*204T>G
|
|
|
NM_152871.4:c.818T>G
|
NP_690610.1:p.Leu273Trp
|
|
|
NM_152872.4:c.*193T>G
|
NP_690611.1:n.*193T>G
|
|
|
NR_028033.4:n.788T>G
|
|
|
|
NR_028034.4:n.650T>G
|
|
|
|
NR_028035.4:n.713T>G
|
|
|
|
NR_028036.4:n.851T>G
|
|
|
|
NR_135313.2:n.768T>G
|
|
|
|
NR_135314.2:n.1047T>G
|
|
|
|
NR_135315.2:n.800T>G
|
|
|
