|
ENST00000313771.10:n.1141C>G
|
|
|
|
ENST00000355740.8:c.*155C>G
|
ENSP00000347979.3:n.*155C>G
|
|
|
ENST00000357339.7:c.769C>G
|
ENSP00000349896.2:p.Leu257Val
|
|
|
ENST00000371857.8:n.2377C>G
|
|
|
|
ENST00000460510.6:c.115C>G
|
ENSP00000512812.1:p.Leu39Val
|
|
|
ENST00000466081.6:n.2481C>G
|
|
|
|
ENST00000477270.6:c.877C>G
|
ENSP00000512813.1:p.Leu293Val
|
|
|
ENST00000479522.6:c.*261C>G
|
ENSP00000424113.1:n.*261C>G
|
|
|
ENST00000484444.6:c.*273C>G
|
ENSP00000420975.1:n.*273C>G
|
|
|
ENST00000488877.6:c.723C>G
|
ENSP00000425159.1:n.723C>G
|
|
|
ENST00000492756.7:c.*261C>G
|
ENSP00000422453.1:n.*261C>G
|
|
|
ENST00000494799.6:c.115C>G
|
ENSP00000512834.1:p.Leu39Val
|
|
|
ENST00000562983.3:c.115C>G
|
ENSP00000512845.1:p.Leu39Val
|
|
|
ENST00000612663.6:c.*234C>G
|
ENSP00000477997.3:n.*234C>G
|
|
|
ENST00000640140.2:n.977C>G
|
|
|
|
ENST00000640250.2:n.331C>G
|
|
|
|
ENST00000640681.2:n.936C>G
|
|
|
|
ENST00000696723.1:n.4465C>G
|
|
|
|
ENST00000696741.1:n.2470C>G
|
|
|
|
ENST00000696742.1:n.2197C>G
|
|
|
|
ENST00000696743.1:n.3600C>G
|
|
|
|
ENST00000696744.1:n.871C>G
|
|
|
|
ENST00000696767.1:n.1166C>G
|
|
|
|
ENST00000696768.1:c.*155C>G
|
ENSP00000512859.1:n.*155C>G
|
|
|
ENST00000696769.1:n.2521C>G
|
|
|
|
ENST00000696771.1:c.115C>G
|
ENSP00000512860.1:p.Leu39Val
|
|
|
ENST00000696772.1:n.2435C>G
|
|
|
|
ENST00000696773.1:n.2174C>G
|
|
|
|
ENST00000696774.1:n.5942C>G
|
|
|
|
ENST00000696776.1:c.925C>G
|
ENSP00000512861.1:p.Leu309Val
|
|
|
ENST00000696777.1:n.2240C>G
|
|
|
|
ENST00000696778.1:n.1268C>G
|
|
|
|
ENST00000696779.1:c.439C>G
|
ENSP00000512862.1:p.Leu147Val
|
|
|
ENST00000696780.1:c.862C>G
|
ENSP00000512863.1:p.Leu288Val
|
|
|
ENST00000696781.1:c.577C>G
|
ENSP00000512864.1:p.Leu193Val
|
|
|
ENST00000696782.1:c.*234C>G
|
ENSP00000512865.1:n.*234C>G
|
|
|
ENST00000696783.1:n.2700C>G
|
|
|
|
ENST00000696992.1:n.1949C>G
|
|
|
|
ENST00000696995.1:n.4361C>G
|
|
|
|
ENST00000696996.1:n.2274C>G
|
|
|
|
ENST00000696997.1:c.*462C>G
|
ENSP00000513028.1:n.*462C>G
|
|
|
ENST00000696998.1:n.2086C>G
|
|
|
|
ENST00000696999.1:c.115C>G
|
ENSP00000513029.1:p.Leu39Val
|
|
|
ENST00000697035.1:c.*165C>G
|
ENSP00000513059.1:n.*165C>G
|
|
|
ENST00000697036.1:c.*248C>G
|
ENSP00000513060.1:n.*248C>G
|
|
|
ENST00000697037.1:n.867C>G
|
|
|
|
ENST00000697093.1:n.3068C>G
|
|
|
|
ENST00000697094.1:n.3415C>G
|
|
|
|
ENST00000697095.1:c.*2033C>G
|
ENSP00000513104.1:n.*2033C>G
|
|
|
ENST00000697096.1:n.1965C>G
|
|
|
|
ENST00000697097.1:c.115C>G
|
ENSP00000513105.1:p.Leu39Val
|
|
|
ENST00000562983.2:n.1018C>G
|
|
|
|
ENST00000690268.1:c.913C>G
|
ENSP00000509810.1:p.Leu305Val
|
|
|
ENST00000355740.7:c.*158C>G
|
ENSP00000347979.3:n.*158C>G
|
|
|
ENST00000612663.5:c.*234C>G
|
ENSP00000477997.3:n.*234C>G
|
|
|
ENST00000640140.1:n.1004C>G
|
|
|
|
ENST00000640250.1:n.331C>G
|
|
|
|
ENST00000640681.1:n.953C>G
|
|
|
|
ENST00000652046.1:c.832C>G
MANE Select
|
ENSP00000498466.1:p.Leu278Val
|
|
|
ENST00000352159.8:c.*149C>G
|
ENSP00000345601.4:n.*149C>G
|
|
|
ENST00000355279.2:c.807C>G
|
ENSP00000347426.2:n.807C>G
|
|
|
ENST00000355740.6:c.832C>G
|
ENSP00000347979.2:p.Leu278Val
|
|
|
ENST00000357339.6:c.769C>G
|
ENSP00000349896.2:p.Leu257Val
|
|
|
ENST00000479522.5:c.*261C>G
|
ENSP00000424113.1:n.*261C>G
|
|
|
ENST00000484444.5:c.*273C>G
|
ENSP00000420975.1:n.*273C>G
|
|
|
ENST00000488877.5:c.*273C>G
|
ENSP00000425159.1:n.*273C>G
|
|
|
ENST00000492756.5:c.660C>G
|
ENSP00000422453.1:n.660C>G
|
|
|
ENST00000494410.5:c.*190C>G
|
ENSP00000423755.1:n.*190C>G
|
|
|
ENST00000612663.4:c.*179C>G
|
ENSP00000477997.2:n.*179C>G
|
|
|
NM_000043.4:c.832C>G , LRG_134t1:c.832C>G
|
NP_000034.1:p.Leu278Val
|
|
|
NM_152871.2:c.769C>G
|
NP_690610.1:p.Leu257Val
|
|
|
NM_152872.2:c.*144C>G
|
NP_690611.1:n.*144C>G
|
|
|
NR_028033.2:n.1006C>G
|
|
|
|
NR_028034.2:n.868C>G
|
|
|
|
NR_028035.2:n.931C>G
|
|
|
|
NR_028036.2:n.1069C>G
|
|
|
|
XM_006717819.2:c.913C>G
|
XP_006717882.1:p.Leu305Val
|
|
|
XM_011539764.1:c.994C>G
|
XP_011538066.1:p.Leu332Val
|
|
|
XM_011539765.1:c.931C>G
|
XP_011538067.1:p.Leu311Val
|
|
|
XM_011539766.1:c.913C>G
|
XP_011538068.1:p.Leu305Val
|
|
|
XM_011539767.1:c.877C>G
|
XP_011538069.1:p.Leu293Val
|
|
|
XR_945732.1:n.900C>G
|
|
|
|
XR_945733.1:n.837C>G
|
|
|
|
NM_000043.5:c.832C>G
|
NP_000034.1:p.Leu278Val
|
|
|
NM_001320619.1:c.*155C>G
|
NP_001307548.1:n.*155C>G
|
|
|
NM_152871.3:c.769C>G
|
NP_690610.1:p.Leu257Val
|
|
|
NM_152872.3:c.*144C>G
|
NP_690611.1:n.*144C>G
|
|
|
NR_028033.3:n.978C>G
|
|
|
|
NR_028034.3:n.840C>G
|
|
|
|
NR_028035.3:n.903C>G
|
|
|
|
NR_028036.3:n.1041C>G
|
|
|
|
NR_135313.1:n.958C>G
|
|
|
|
NR_135314.1:n.1141C>G
|
|
|
|
NR_135315.1:n.894C>G
|
|
|
|
XM_006717819.3:c.913C>G
|
XP_006717882.1:p.Leu305Val
|
|
|
XM_011539764.2:c.994C>G
|
XP_011538066.1:p.Leu332Val
|
|
|
XM_011539765.2:c.931C>G
|
XP_011538067.1:p.Leu311Val
|
|
|
XM_011539766.2:c.913C>G
|
XP_011538068.1:p.Leu305Val
|
|
|
XM_011539767.3:c.877C>G
|
XP_011538069.1:p.Leu293Val
|
|
|
XR_945732.3:n.900C>G
|
|
|
|
XR_945733.2:n.837C>G
|
|
|
|
NM_000043.6:c.832C>G
MANE Select
|
NP_000034.1:p.Leu278Val
|
|
|
NM_001320619.2:c.*155C>G
|
NP_001307548.1:n.*155C>G
|
|
|
NM_152871.4:c.769C>G
|
NP_690610.1:p.Leu257Val
|
|
|
NM_152872.4:c.*144C>G
|
NP_690611.1:n.*144C>G
|
|
|
NR_028033.4:n.739C>G
|
|
|
|
NR_028034.4:n.601C>G
|
|
|
|
NR_028035.4:n.664C>G
|
|
|
|
NR_028036.4:n.802C>G
|
|
|
|
NR_135313.2:n.719C>G
|
|
|
|
NR_135314.2:n.998C>G
|
|
|
|
NR_135315.2:n.751C>G
|
|
|
