|
ENST00000313771.10:n.1189T>G
|
|
|
|
ENST00000355740.8:c.*203T>G
|
ENSP00000347979.3:n.*203T>G
|
|
|
ENST00000357339.7:c.817T>G
|
ENSP00000349896.2:p.Leu273Val
|
|
|
ENST00000371857.8:n.2425T>G
|
|
|
|
ENST00000460510.6:c.163T>G
|
ENSP00000512812.1:p.Leu55Val
|
|
|
ENST00000466081.6:n.2529T>G
|
|
|
|
ENST00000477270.6:c.925T>G
|
ENSP00000512813.1:p.Leu309Val
|
|
|
ENST00000479522.6:c.*309T>G
|
ENSP00000424113.1:n.*309T>G
|
|
|
ENST00000484444.6:c.*321T>G
|
ENSP00000420975.1:n.*321T>G
|
|
|
ENST00000488877.6:c.771T>G
|
ENSP00000425159.1:n.771T>G
|
|
|
ENST00000492756.7:c.*309T>G
|
ENSP00000422453.1:n.*309T>G
|
|
|
ENST00000494799.6:c.163T>G
|
ENSP00000512834.1:p.Leu55Val
|
|
|
ENST00000562983.3:c.163T>G
|
ENSP00000512845.1:p.Leu55Val
|
|
|
ENST00000612663.6:c.*282T>G
|
ENSP00000477997.3:n.*282T>G
|
|
|
ENST00000640140.2:n.1025T>G
|
|
|
|
ENST00000640250.2:n.379T>G
|
|
|
|
ENST00000640681.2:n.984T>G
|
|
|
|
ENST00000696723.1:n.4513T>G
|
|
|
|
ENST00000696741.1:n.2518T>G
|
|
|
|
ENST00000696742.1:n.2245T>G
|
|
|
|
ENST00000696743.1:n.3648T>G
|
|
|
|
ENST00000696744.1:n.919T>G
|
|
|
|
ENST00000696767.1:n.1214T>G
|
|
|
|
ENST00000696768.1:c.*203T>G
|
ENSP00000512859.1:n.*203T>G
|
|
|
ENST00000696769.1:n.2569T>G
|
|
|
|
ENST00000696771.1:c.163T>G
|
ENSP00000512860.1:p.Leu55Val
|
|
|
ENST00000696772.1:n.2483T>G
|
|
|
|
ENST00000696773.1:n.2222T>G
|
|
|
|
ENST00000696774.1:n.5990T>G
|
|
|
|
ENST00000696776.1:c.973T>G
|
ENSP00000512861.1:p.Leu325Val
|
|
|
ENST00000696777.1:n.2288T>G
|
|
|
|
ENST00000696778.1:n.1316T>G
|
|
|
|
ENST00000696779.1:c.487T>G
|
ENSP00000512862.1:p.Leu163Val
|
|
|
ENST00000696780.1:c.910T>G
|
ENSP00000512863.1:p.Leu304Val
|
|
|
ENST00000696781.1:c.625T>G
|
ENSP00000512864.1:p.Leu209Val
|
|
|
ENST00000696782.1:c.*282T>G
|
ENSP00000512865.1:n.*282T>G
|
|
|
ENST00000696783.1:n.2748T>G
|
|
|
|
ENST00000696992.1:n.1997T>G
|
|
|
|
ENST00000696995.1:n.4409T>G
|
|
|
|
ENST00000696996.1:n.2322T>G
|
|
|
|
ENST00000696997.1:c.*510T>G
|
ENSP00000513028.1:n.*510T>G
|
|
|
ENST00000696998.1:n.2134T>G
|
|
|
|
ENST00000696999.1:c.163T>G
|
ENSP00000513029.1:p.Leu55Val
|
|
|
ENST00000697036.1:c.*296T>G
|
ENSP00000513060.1:n.*296T>G
|
|
|
ENST00000697037.1:n.915T>G
|
|
|
|
ENST00000697093.1:n.3116T>G
|
|
|
|
ENST00000697094.1:n.3463T>G
|
|
|
|
ENST00000697095.1:c.*2081T>G
|
ENSP00000513104.1:n.*2081T>G
|
|
|
ENST00000697096.1:n.2013T>G
|
|
|
|
ENST00000697097.1:c.163T>G
|
ENSP00000513105.1:p.Leu55Val
|
|
|
ENST00000562983.2:n.1066T>G
|
|
|
|
ENST00000690268.1:c.961T>G
|
ENSP00000509810.1:p.Leu321Val
|
|
|
ENST00000355740.7:c.*206T>G
|
ENSP00000347979.3:n.*206T>G
|
|
|
ENST00000612663.5:c.*282T>G
|
ENSP00000477997.3:n.*282T>G
|
|
|
ENST00000640140.1:n.1052T>G
|
|
|
|
ENST00000640250.1:n.379T>G
|
|
|
|
ENST00000640681.1:n.1001T>G
|
|
|
|
ENST00000652046.1:c.880T>G
MANE Select
|
ENSP00000498466.1:p.Leu294Val
|
|
|
ENST00000352159.8:c.*197T>G
|
ENSP00000345601.4:n.*197T>G
|
|
|
ENST00000355279.2:c.855T>G
|
ENSP00000347426.2:n.855T>G
|
|
|
ENST00000355740.6:c.880T>G
|
ENSP00000347979.2:p.Leu294Val
|
|
|
ENST00000357339.6:c.817T>G
|
ENSP00000349896.2:p.Leu273Val
|
|
|
ENST00000479522.5:c.*309T>G
|
ENSP00000424113.1:n.*309T>G
|
|
|
ENST00000484444.5:c.*321T>G
|
ENSP00000420975.1:n.*321T>G
|
|
|
ENST00000488877.5:c.*321T>G
|
ENSP00000425159.1:n.*321T>G
|
|
|
ENST00000492756.5:c.708T>G
|
ENSP00000422453.1:n.708T>G
|
|
|
ENST00000494410.5:c.*238T>G
|
ENSP00000423755.1:n.*238T>G
|
|
|
ENST00000612663.4:c.*227T>G
|
ENSP00000477997.2:n.*227T>G
|
|
|
NM_000043.4:c.880T>G , LRG_134t1:c.880T>G
|
NP_000034.1:p.Leu294Val
|
|
|
NM_152871.2:c.817T>G
|
NP_690610.1:p.Leu273Val
|
|
|
NM_152872.2:c.*192T>G
|
NP_690611.1:n.*192T>G
|
|
|
NR_028033.2:n.1054T>G
|
|
|
|
NR_028034.2:n.916T>G
|
|
|
|
NR_028035.2:n.979T>G
|
|
|
|
NR_028036.2:n.1117T>G
|
|
|
|
XM_006717819.2:c.961T>G
|
XP_006717882.1:p.Leu321Val
|
|
|
XM_011539764.1:c.1042T>G
|
XP_011538066.1:p.Leu348Val
|
|
|
XM_011539765.1:c.979T>G
|
XP_011538067.1:p.Leu327Val
|
|
|
XM_011539766.1:c.961T>G
|
XP_011538068.1:p.Leu321Val
|
|
|
XM_011539767.1:c.925T>G
|
XP_011538069.1:p.Leu309Val
|
|
|
XR_945732.1:n.948T>G
|
|
|
|
XR_945733.1:n.885T>G
|
|
|
|
NM_000043.5:c.880T>G
|
NP_000034.1:p.Leu294Val
|
|
|
NM_001320619.1:c.*203T>G
|
NP_001307548.1:n.*203T>G
|
|
|
NM_152871.3:c.817T>G
|
NP_690610.1:p.Leu273Val
|
|
|
NM_152872.3:c.*192T>G
|
NP_690611.1:n.*192T>G
|
|
|
NR_028033.3:n.1026T>G
|
|
|
|
NR_028034.3:n.888T>G
|
|
|
|
NR_028035.3:n.951T>G
|
|
|
|
NR_028036.3:n.1089T>G
|
|
|
|
NR_135313.1:n.1006T>G
|
|
|
|
NR_135314.1:n.1189T>G
|
|
|
|
NR_135315.1:n.942T>G
|
|
|
|
XM_006717819.3:c.961T>G
|
XP_006717882.1:p.Leu321Val
|
|
|
XM_011539764.2:c.1042T>G
|
XP_011538066.1:p.Leu348Val
|
|
|
XM_011539765.2:c.979T>G
|
XP_011538067.1:p.Leu327Val
|
|
|
XM_011539766.2:c.961T>G
|
XP_011538068.1:p.Leu321Val
|
|
|
XM_011539767.3:c.925T>G
|
XP_011538069.1:p.Leu309Val
|
|
|
XR_945732.3:n.948T>G
|
|
|
|
XR_945733.2:n.885T>G
|
|
|
|
NM_000043.6:c.880T>G
MANE Select
|
NP_000034.1:p.Leu294Val
|
|
|
NM_001320619.2:c.*203T>G
|
NP_001307548.1:n.*203T>G
|
|
|
NM_152871.4:c.817T>G
|
NP_690610.1:p.Leu273Val
|
|
|
NM_152872.4:c.*192T>G
|
NP_690611.1:n.*192T>G
|
|
|
NR_028033.4:n.787T>G
|
|
|
|
NR_028034.4:n.649T>G
|
|
|
|
NR_028035.4:n.712T>G
|
|
|
|
NR_028036.4:n.850T>G
|
|
|
|
NR_135313.2:n.767T>G
|
|
|
|
NR_135314.2:n.1046T>G
|
|
|
|
NR_135315.2:n.799T>G
|
|
|
