|
ENST00000418862.2:c.891G>T
|
ENSP00000391981.2:p.Leu297Phe
|
|
|
ENST00000508658.6:c.2763G>T
|
ENSP00000422814.2:p.Leu921Phe
|
|
|
ENST00000509338.6:c.1884G>T
|
ENSP00000424302.2:p.Leu628Phe
|
|
|
ENST00000514801.2:n.1980G>T
|
|
|
|
ENST00000515216.6:c.2746-16G>T
|
ENSP00000425630.2:n.2746-16G>T
|
|
|
ENST00000681965.1:c.3901G>T
|
ENSP00000507317.1:n.3901G>T
|
|
|
ENST00000681981.1:c.2679G>T
|
ENSP00000507672.1:p.Leu893Phe
|
|
|
ENST00000682022.1:c.*2655G>T
|
ENSP00000508118.1:n.*2655G>T
|
|
|
ENST00000682023.1:c.*2386G>T
|
ENSP00000507998.1:n.*2386G>T
|
|
|
ENST00000682034.1:c.*1930G>T
|
ENSP00000506724.1:n.*1930G>T
|
|
|
ENST00000682057.1:c.*2192G>T
|
ENSP00000507883.1:n.*2192G>T
|
|
|
ENST00000682083.1:c.*2673G>T
|
ENSP00000506859.1:n.*2673G>T
|
|
|
ENST00000682106.1:n.5277G>T
|
|
|
|
ENST00000682133.1:c.*326G>T
|
ENSP00000507001.1:n.*326G>T
|
|
|
ENST00000682171.1:c.2604G>T
|
ENSP00000508327.1:p.Leu868Phe
|
|
|
ENST00000682174.1:c.*2386G>T
|
ENSP00000507248.1:n.*2386G>T
|
|
|
ENST00000682374.1:c.*1309G>T
|
ENSP00000507425.1:n.*1309G>T
|
|
|
ENST00000682412.1:c.2603G>T
|
ENSP00000507297.1:n.2603G>T
|
|
|
ENST00000682454.1:c.*2126G>T
|
ENSP00000507851.1:n.*2126G>T
|
|
|
ENST00000682455.1:c.*3741G>T
|
ENSP00000507586.1:n.*3741G>T
|
|
|
ENST00000682464.1:c.*326G>T
|
ENSP00000507625.1:n.*326G>T
|
|
|
ENST00000682491.1:c.2475G>T
|
ENSP00000506970.1:p.Leu825Phe
|
|
|
ENST00000682497.1:c.2760G>T
|
ENSP00000507869.1:p.Leu920Phe
|
|
|
ENST00000682504.1:c.*2669G>T
|
ENSP00000507623.1:n.*2669G>T
|
|
|
ENST00000682514.1:n.8550G>T
|
|
|
|
ENST00000682594.1:n.3379G>T
|
|
|
|
ENST00000682633.1:c.*326G>T
|
ENSP00000507843.1:n.*326G>T
|
|
|
ENST00000682660.1:c.2502G>T
|
ENSP00000507539.1:p.Leu834Phe
|
|
|
ENST00000682682.1:c.2598G>T
|
ENSP00000507777.1:p.Leu866Phe
|
|
|
ENST00000682688.1:c.*1768G>T
|
ENSP00000507097.1:n.*1768G>T
|
|
|
ENST00000682694.1:c.*2126G>T
|
ENSP00000507387.1:n.*2126G>T
|
|
|
ENST00000682709.1:n.8682G>T
|
|
|
|
ENST00000682738.1:c.2571G>T
|
ENSP00000507742.1:p.Leu857Phe
|
|
|
ENST00000682776.1:c.*1514G>T
|
ENSP00000507490.1:n.*1514G>T
|
|
|
ENST00000682854.1:c.*2751G>T
|
ENSP00000507257.1:n.*2751G>T
|
|
|
ENST00000682878.1:c.*2451G>T
|
ENSP00000507360.1:n.*2451G>T
|
|
|
ENST00000682926.1:n.2170G>T
|
|
|
|
ENST00000682939.1:c.2475G>T
|
ENSP00000506902.1:p.Leu825Phe
|
|
|
ENST00000682991.1:c.2544G>T
|
ENSP00000508193.1:p.Leu848Phe
|
|
|
ENST00000682995.1:c.*1487G>T
|
ENSP00000506807.1:n.*1487G>T
|
|
|
ENST00000683073.1:c.*881G>T
|
ENSP00000507270.1:n.*881G>T
|
|
|
ENST00000683074.1:c.*2673G>T
|
ENSP00000507008.1:n.*2673G>T
|
|
|
ENST00000683085.1:c.*838G>T
|
ENSP00000507993.1:n.*838G>T
|
|
|
ENST00000683097.1:c.*1133G>T
|
ENSP00000507556.1:n.*1133G>T
|
|
|
ENST00000683126.1:c.*2283G>T
|
ENSP00000507507.1:n.*2283G>T
|
|
|
ENST00000683195.1:c.*2126G>T
|
ENSP00000508190.1:n.*2126G>T
|
|
|
ENST00000683196.1:c.*2126G>T
|
ENSP00000508297.1:n.*2126G>T
|
|
|
ENST00000683364.1:c.*2633G>T
|
ENSP00000507791.1:n.*2633G>T
|
|
|
ENST00000683436.1:c.*1794G>T
|
ENSP00000506874.1:n.*1794G>T
|
|
|
ENST00000683458.1:c.*1514G>T
|
ENSP00000508204.1:n.*1514G>T
|
|
|
ENST00000683473.1:n.3874G>T
|
|
|
|
ENST00000683479.1:c.2763G>T
|
ENSP00000507368.1:p.Leu921Phe
|
|
|
ENST00000683481.1:c.*1645G>T
|
ENSP00000507015.1:n.*1645G>T
|
|
|
ENST00000683541.1:c.2760G>T
|
ENSP00000507116.1:p.Leu920Phe
|
|
|
ENST00000683542.1:c.*2287G>T
|
ENSP00000506893.1:n.*2287G>T
|
|
|
ENST00000683577.1:c.*326G>T
|
ENSP00000507516.1:n.*326G>T
|
|
|
ENST00000683583.1:c.*5177G>T
|
ENSP00000507244.1:n.*5177G>T
|
|
|
ENST00000683643.1:c.2631G>T
|
ENSP00000507444.1:p.Leu877Phe
|
|
|
ENST00000683698.1:c.*2279G>T
|
ENSP00000507000.1:n.*2279G>T
|
|
|
ENST00000683726.1:c.*2283G>T
|
ENSP00000507744.1:n.*2283G>T
|
|
|
ENST00000683754.1:c.2682G>T
|
ENSP00000507707.1:p.Leu894Phe
|
|
|
ENST00000683763.1:n.1461G>T
|
|
|
|
ENST00000683785.1:c.2628G>T
|
ENSP00000507188.1:p.Leu876Phe
|
|
|
ENST00000683803.1:c.*1514G>T
|
ENSP00000508216.1:n.*1514G>T
|
|
|
ENST00000683857.1:c.*2192G>T
|
ENSP00000508015.1:n.*2192G>T
|
|
|
ENST00000683873.1:c.*2338G>T
|
ENSP00000506829.1:n.*2338G>T
|
|
|
ENST00000683878.1:c.*2044G>T
|
ENSP00000507449.1:n.*2044G>T
|
|
|
ENST00000683880.1:c.*2287G>T
|
ENSP00000508357.1:n.*2287G>T
|
|
|
ENST00000683898.1:c.2598G>T
|
ENSP00000506897.1:p.Leu866Phe
|
|
|
ENST00000683909.1:n.4793G>T
|
|
|
|
ENST00000684017.1:n.8275G>T
|
|
|
|
ENST00000684108.1:n.8682G>T
|
|
|
|
ENST00000684118.1:c.2743-16G>T
|
ENSP00000507950.1:n.2743-16G>T
|
|
|
ENST00000684150.1:c.2604G>T
|
ENSP00000507401.1:p.Leu868Phe
|
|
|
ENST00000684220.1:c.*2633G>T
|
ENSP00000507382.1:n.*2633G>T
|
|
|
ENST00000684239.1:c.*2388G>T
|
ENSP00000507479.1:n.*2388G>T
|
|
|
ENST00000684273.1:c.*2256G>T
|
ENSP00000508063.1:n.*2256G>T
|
|
|
ENST00000684281.1:c.2412G>T
|
ENSP00000507932.1:p.Leu804Phe
|
|
|
ENST00000684299.1:c.*326G>T
|
ENSP00000507637.1:n.*326G>T
|
|
|
ENST00000684319.1:c.*326G>T
|
ENSP00000508346.1:n.*326G>T
|
|
|
ENST00000684422.1:c.*2436G>T
|
ENSP00000507146.1:n.*2436G>T
|
|
|
ENST00000684451.1:c.*2068G>T
|
ENSP00000507384.1:n.*2068G>T
|
|
|
ENST00000684570.1:c.2826G>T
|
ENSP00000508127.1:p.Leu942Phe
|
|
|
ENST00000684581.1:c.*584G>T
|
ENSP00000507294.1:n.*584G>T
|
|
|
ENST00000684647.1:c.2472G>T
|
ENSP00000506873.1:p.Leu824Phe
|
|
|
ENST00000684680.1:c.2388G>T
|
ENSP00000507491.1:p.Leu796Phe
|
|
|
ENST00000684717.1:c.2880G>T
|
ENSP00000507024.1:p.Leu960Phe
|
|
|
ENST00000314673.8:c.2763G>T
MANE Select
|
ENSP00000313121.3:p.Leu921Phe
|
|
|
ENST00000314673.7:c.2763G>T
|
ENSP00000313121.3:p.Leu921Phe
|
|
|
ENST00000346348.7:c.2604G>T
|
ENSP00000257769.3:p.Leu868Phe
|
|
|
ENST00000369627.6:c.2736G>T
|
ENSP00000358641.2:p.Leu912Phe
|
|
|
ENST00000474645.6:n.508G>T
|
|
|
|
ENST00000503491.5:n.3252G>T
|
|
|
|
ENST00000505648.5:c.2607G>T
|
ENSP00000427380.1:p.Leu869Phe
|
|
|
ENST00000508658.5:c.479G>T
|
|
|
|
ENST00000508980.5:n.3369G>T
|
|
|
|
ENST00000513865.5:c.1920G>T
|
ENSP00000420938.1:p.Leu640Phe
|
|
|
NM_001297614.2:c.2736G>T
|
NP_001284543.1:p.Leu912Phe
|
|
|
NM_001304479.1:c.2607G>T
|
NP_001291408.1:p.Leu869Phe
|
|
|
NM_020468.5:c.2604G>T
|
NP_065201.1:p.Leu868Phe
|
|
|
NM_153816.5:c.2763G>T
|
NP_722523.1:p.Leu921Phe
|
|
|
XM_005248738.3:c.2760G>T
|
XP_005248795.1:p.Leu920Phe
|
|
|
XM_005248740.3:c.2631G>T
|
XP_005248797.1:p.Leu877Phe
|
|
|
XM_011535978.1:c.2544G>T
|
XP_011534280.1:p.Leu848Phe
|
|
|
XM_011535979.1:c.2475G>T
|
XP_011534281.1:p.Leu825Phe
|
|
|
XM_011535980.1:c.1608G>T
|
XP_011534282.1:p.Leu536Phe
|
|
|
XR_942523.1:n.2871G>T
|
|
|
|
NM_001350532.1:c.2826G>T
|
NP_001337461.1:p.Leu942Phe
|
|
|
NM_001350533.1:c.2760G>T
|
NP_001337462.1:p.Leu920Phe
|
|
|
NM_001350534.1:c.2733G>T
|
NP_001337463.1:p.Leu911Phe
|
|
|
NM_001350535.1:c.2743-16G>T
|
NP_001337464.1:n.2743-16G>T
|
|
|
NM_001350536.1:c.2631G>T
|
NP_001337465.1:p.Leu877Phe
|
|
|
NM_001350537.1:c.2628G>T
|
NP_001337466.1:p.Leu876Phe
|
|
|
NM_001350538.1:c.2619G>T
|
NP_001337467.1:p.Leu873Phe
|
|
|
NM_001350539.1:c.2604G>T
|
NP_001337468.1:p.Leu868Phe
|
|
|
NM_001350540.1:c.2598G>T
|
NP_001337469.1:p.Leu866Phe
|
|
|
NM_001350541.1:c.2571G>T
|
NP_001337470.1:p.Leu857Phe
|
|
|
NM_001350542.1:c.2475G>T
|
NP_001337471.1:p.Leu825Phe
|
|
|
NM_001350543.1:c.2472G>T
|
NP_001337472.1:p.Leu824Phe
|
|
|
NM_001350544.1:c.2463G>T
|
NP_001337473.1:p.Leu821Phe
|
|
|
NM_001350545.1:c.2319G>T
|
NP_001337474.1:p.Leu773Phe
|
|
|
NM_001350546.1:c.2319G>T
|
NP_001337475.1:p.Leu773Phe
|
|
|
NM_001350547.1:c.1713G>T
|
NP_001337476.1:p.Leu571Phe
|
|
|
NM_001350548.1:c.1608G>T
|
NP_001337477.1:p.Leu536Phe
|
|
|
NM_001350549.1:c.1608G>T
|
NP_001337478.1:p.Leu536Phe
|
|
|
NM_001350550.1:c.1608G>T
|
NP_001337479.1:p.Leu536Phe
|
|
|
NM_001350551.1:c.1608G>T
|
NP_001337480.1:p.Leu536Phe
|
|
|
NM_001350552.1:c.1608G>T
|
NP_001337481.1:p.Leu536Phe
|
|
|
NM_001350553.1:c.1581G>T
|
NP_001337482.1:p.Leu527Phe
|
|
|
NR_146774.1:n.3197G>T
|
|
|
|
NR_146775.1:n.3200G>T
|
|
|
|
NR_146776.1:n.3323G>T
|
|
|
|
NR_146777.1:n.3451G>T
|
|
|
|
NR_146778.1:n.3455G>T
|
|
|
|
NR_146779.1:n.3452G>T
|
|
|
|
XM_017011090.1:c.2604G>T
|
XP_016866579.1:p.Leu868Phe
|
|
|
XM_024446498.1:c.2472G>T
|
XP_024302266.1:p.Leu824Phe
|
|
|
XM_024446499.1:c.1608G>T
|
XP_024302267.1:p.Leu536Phe
|
|
|
NM_153816.6:c.2763G>T
MANE Select
|
NP_722523.1:p.Leu921Phe
|
|
|
NM_001297614.3:c.2736G>T
|
NP_001284543.1:p.Leu912Phe
|
|
|
NM_001304479.2:c.2607G>T
|
NP_001291408.1:p.Leu869Phe
|
|
|
NM_001350532.2:c.2826G>T
|
NP_001337461.1:p.Leu942Phe
|
|
|
NM_001350533.2:c.2760G>T
|
NP_001337462.1:p.Leu920Phe
|
|
|
NM_001350534.2:c.2733G>T
|
NP_001337463.1:p.Leu911Phe
|
|
|
NM_001350535.2:c.2743-16G>T
|
NP_001337464.1:n.2743-16G>T
|
|
|
NM_001350536.2:c.2631G>T
|
NP_001337465.1:p.Leu877Phe
|
|
|
NM_001350537.2:c.2628G>T
|
NP_001337466.1:p.Leu876Phe
|
|
|
NM_001350538.2:c.2619G>T
|
NP_001337467.1:p.Leu873Phe
|
|
|
NM_001350539.2:c.2604G>T
|
NP_001337468.1:p.Leu868Phe
|
|
|
NM_001350540.2:c.2598G>T
|
NP_001337469.1:p.Leu866Phe
|
|
|
NM_001350541.2:c.2571G>T
|
NP_001337470.1:p.Leu857Phe
|
|
|
NM_001350542.2:c.2475G>T
|
NP_001337471.1:p.Leu825Phe
|
|
|
NM_001350543.2:c.2472G>T
|
NP_001337472.1:p.Leu824Phe
|
|
|
NM_001350544.2:c.2463G>T
|
NP_001337473.1:p.Leu821Phe
|
|
|
NM_001350545.2:c.2319G>T
|
NP_001337474.1:p.Leu773Phe
|
|
|
NM_001350546.2:c.2319G>T
|
NP_001337475.1:p.Leu773Phe
|
|
|
NM_001350547.2:c.1713G>T
|
NP_001337476.1:p.Leu571Phe
|
|
|
NM_001350548.2:c.1608G>T
|
NP_001337477.1:p.Leu536Phe
|
|
|
NM_001350549.2:c.1608G>T
|
NP_001337478.1:p.Leu536Phe
|
|
|
NM_001350550.2:c.1608G>T
|
NP_001337479.1:p.Leu536Phe
|
|
|
NM_001350551.2:c.1608G>T
|
NP_001337480.1:p.Leu536Phe
|
|
|
NM_001350552.2:c.1608G>T
|
NP_001337481.1:p.Leu536Phe
|
|
|
NM_001350553.2:c.1581G>T
|
NP_001337482.1:p.Leu527Phe
|
|
|
NM_020468.6:c.2604G>T
|
NP_065201.1:p.Leu868Phe
|
|
|
NR_146774.2:n.2899G>T
|
|
|
|
NR_146775.2:n.2902G>T
|
|
|
|
NR_146776.2:n.3025G>T
|
|
|
|
NR_146777.2:n.3153G>T
|
|
|
|
NR_146778.2:n.3157G>T
|
|
|
|
NR_146779.2:n.3154G>T
|
|
|
