|
ENST00000313771.10:n.1201C>G
|
|
|
|
ENST00000355740.8:c.*215C>G
|
ENSP00000347979.3:n.*215C>G
|
|
|
ENST00000357339.7:c.829C>G
|
ENSP00000349896.2:p.Leu277Val
|
|
|
ENST00000371857.8:n.2437C>G
|
|
|
|
ENST00000460510.6:c.175C>G
|
ENSP00000512812.1:p.Leu59Val
|
|
|
ENST00000466081.6:n.2541C>G
|
|
|
|
ENST00000477270.6:c.937C>G
|
ENSP00000512813.1:p.Leu313Val
|
|
|
ENST00000479522.6:c.*321C>G
|
ENSP00000424113.1:n.*321C>G
|
|
|
ENST00000484444.6:c.*333C>G
|
ENSP00000420975.1:n.*333C>G
|
|
|
ENST00000488877.6:c.783C>G
|
ENSP00000425159.1:n.783C>G
|
|
|
ENST00000492756.7:c.*321C>G
|
ENSP00000422453.1:n.*321C>G
|
|
|
ENST00000494799.6:c.175C>G
|
ENSP00000512834.1:p.Leu59Val
|
|
|
ENST00000562983.3:c.175C>G
|
ENSP00000512845.1:p.Leu59Val
|
|
|
ENST00000612663.6:c.*294C>G
|
ENSP00000477997.3:n.*294C>G
|
|
|
ENST00000640140.2:n.1037C>G
|
|
|
|
ENST00000640250.2:n.391C>G
|
|
|
|
ENST00000640681.2:n.996C>G
|
|
|
|
ENST00000696723.1:n.4525C>G
|
|
|
|
ENST00000696741.1:n.2530C>G
|
|
|
|
ENST00000696742.1:n.2257C>G
|
|
|
|
ENST00000696743.1:n.3660C>G
|
|
|
|
ENST00000696744.1:n.931C>G
|
|
|
|
ENST00000696767.1:n.1226C>G
|
|
|
|
ENST00000696768.1:c.*215C>G
|
ENSP00000512859.1:n.*215C>G
|
|
|
ENST00000696769.1:n.2581C>G
|
|
|
|
ENST00000696771.1:c.175C>G
|
ENSP00000512860.1:p.Leu59Val
|
|
|
ENST00000696772.1:n.2495C>G
|
|
|
|
ENST00000696773.1:n.2234C>G
|
|
|
|
ENST00000696774.1:n.6002C>G
|
|
|
|
ENST00000696776.1:c.985C>G
|
ENSP00000512861.1:p.Leu329Val
|
|
|
ENST00000696777.1:n.2300C>G
|
|
|
|
ENST00000696778.1:n.1328C>G
|
|
|
|
ENST00000696779.1:c.499C>G
|
ENSP00000512862.1:p.Leu167Val
|
|
|
ENST00000696780.1:c.922C>G
|
ENSP00000512863.1:p.Leu308Val
|
|
|
ENST00000696781.1:c.637C>G
|
ENSP00000512864.1:p.Leu213Val
|
|
|
ENST00000696782.1:c.*294C>G
|
ENSP00000512865.1:n.*294C>G
|
|
|
ENST00000696783.1:n.2760C>G
|
|
|
|
ENST00000696992.1:n.2009C>G
|
|
|
|
ENST00000696995.1:n.4421C>G
|
|
|
|
ENST00000696996.1:n.2334C>G
|
|
|
|
ENST00000696997.1:c.*522C>G
|
ENSP00000513028.1:n.*522C>G
|
|
|
ENST00000696998.1:n.2146C>G
|
|
|
|
ENST00000696999.1:c.175C>G
|
ENSP00000513029.1:p.Leu59Val
|
|
|
ENST00000697036.1:c.*308C>G
|
ENSP00000513060.1:n.*308C>G
|
|
|
ENST00000697037.1:n.927C>G
|
|
|
|
ENST00000697093.1:n.3128C>G
|
|
|
|
ENST00000697094.1:n.3475C>G
|
|
|
|
ENST00000697095.1:c.*2093C>G
|
ENSP00000513104.1:n.*2093C>G
|
|
|
ENST00000697096.1:n.2025C>G
|
|
|
|
ENST00000697097.1:c.175C>G
|
ENSP00000513105.1:p.Leu59Val
|
|
|
ENST00000562983.2:n.1078C>G
|
|
|
|
ENST00000690268.1:c.973C>G
|
ENSP00000509810.1:p.Leu325Val
|
|
|
ENST00000355740.7:c.*218C>G
|
ENSP00000347979.3:n.*218C>G
|
|
|
ENST00000612663.5:c.*294C>G
|
ENSP00000477997.3:n.*294C>G
|
|
|
ENST00000640140.1:n.1064C>G
|
|
|
|
ENST00000640250.1:n.391C>G
|
|
|
|
ENST00000640681.1:n.1013C>G
|
|
|
|
ENST00000652046.1:c.892C>G
MANE Select
|
ENSP00000498466.1:p.Leu298Val
|
|
|
ENST00000352159.8:c.*209C>G
|
ENSP00000345601.4:n.*209C>G
|
|
|
ENST00000355279.2:c.867C>G
|
ENSP00000347426.2:n.867C>G
|
|
|
ENST00000355740.6:c.892C>G
|
ENSP00000347979.2:p.Leu298Val
|
|
|
ENST00000357339.6:c.829C>G
|
ENSP00000349896.2:p.Leu277Val
|
|
|
ENST00000479522.5:c.*321C>G
|
ENSP00000424113.1:n.*321C>G
|
|
|
ENST00000484444.5:c.*333C>G
|
ENSP00000420975.1:n.*333C>G
|
|
|
ENST00000488877.5:c.*333C>G
|
ENSP00000425159.1:n.*333C>G
|
|
|
ENST00000492756.5:c.720C>G
|
ENSP00000422453.1:n.720C>G
|
|
|
ENST00000494410.5:c.*250C>G
|
ENSP00000423755.1:n.*250C>G
|
|
|
ENST00000612663.4:c.*239C>G
|
ENSP00000477997.2:n.*239C>G
|
|
|
NM_000043.4:c.892C>G , LRG_134t1:c.892C>G
|
NP_000034.1:p.Leu298Val
|
|
|
NM_152871.2:c.829C>G
|
NP_690610.1:p.Leu277Val
|
|
|
NM_152872.2:c.*204C>G
|
NP_690611.1:n.*204C>G
|
|
|
NR_028033.2:n.1066C>G
|
|
|
|
NR_028034.2:n.928C>G
|
|
|
|
NR_028035.2:n.991C>G
|
|
|
|
NR_028036.2:n.1129C>G
|
|
|
|
XM_006717819.2:c.973C>G
|
XP_006717882.1:p.Leu325Val
|
|
|
XM_011539764.1:c.1054C>G
|
XP_011538066.1:p.Leu352Val
|
|
|
XM_011539765.1:c.991C>G
|
XP_011538067.1:p.Leu331Val
|
|
|
XM_011539766.1:c.973C>G
|
XP_011538068.1:p.Leu325Val
|
|
|
XM_011539767.1:c.937C>G
|
XP_011538069.1:p.Leu313Val
|
|
|
XR_945732.1:n.960C>G
|
|
|
|
XR_945733.1:n.897C>G
|
|
|
|
NM_000043.5:c.892C>G
|
NP_000034.1:p.Leu298Val
|
|
|
NM_001320619.1:c.*215C>G
|
NP_001307548.1:n.*215C>G
|
|
|
NM_152871.3:c.829C>G
|
NP_690610.1:p.Leu277Val
|
|
|
NM_152872.3:c.*204C>G
|
NP_690611.1:n.*204C>G
|
|
|
NR_028033.3:n.1038C>G
|
|
|
|
NR_028034.3:n.900C>G
|
|
|
|
NR_028035.3:n.963C>G
|
|
|
|
NR_028036.3:n.1101C>G
|
|
|
|
NR_135313.1:n.1018C>G
|
|
|
|
NR_135314.1:n.1201C>G
|
|
|
|
NR_135315.1:n.954C>G
|
|
|
|
XM_006717819.3:c.973C>G
|
XP_006717882.1:p.Leu325Val
|
|
|
XM_011539764.2:c.1054C>G
|
XP_011538066.1:p.Leu352Val
|
|
|
XM_011539765.2:c.991C>G
|
XP_011538067.1:p.Leu331Val
|
|
|
XM_011539766.2:c.973C>G
|
XP_011538068.1:p.Leu325Val
|
|
|
XM_011539767.3:c.937C>G
|
XP_011538069.1:p.Leu313Val
|
|
|
XR_945732.3:n.960C>G
|
|
|
|
XR_945733.2:n.897C>G
|
|
|
|
NM_000043.6:c.892C>G
MANE Select
|
NP_000034.1:p.Leu298Val
|
|
|
NM_001320619.2:c.*215C>G
|
NP_001307548.1:n.*215C>G
|
|
|
NM_152871.4:c.829C>G
|
NP_690610.1:p.Leu277Val
|
|
|
NM_152872.4:c.*204C>G
|
NP_690611.1:n.*204C>G
|
|
|
NR_028033.4:n.799C>G
|
|
|
|
NR_028034.4:n.661C>G
|
|
|
|
NR_028035.4:n.724C>G
|
|
|
|
NR_028036.4:n.862C>G
|
|
|
|
NR_135313.2:n.779C>G
|
|
|
|
NR_135314.2:n.1058C>G
|
|
|
|
NR_135315.2:n.811C>G
|
|
|
