|
ENST00000418862.2:c.901A>C
|
ENSP00000391981.2:p.Ile301Leu
|
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|
ENST00000508658.6:c.2773A>C
|
ENSP00000422814.2:p.Ile925Leu
|
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|
ENST00000509338.6:c.1894A>C
|
ENSP00000424302.2:p.Ile632Leu
|
|
|
ENST00000514801.2:n.1990A>C
|
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|
|
ENST00000515216.6:c.2746-6A>C
|
ENSP00000425630.2:n.2746-6A>C
|
|
|
ENST00000681965.1:c.3911A>C
|
ENSP00000507317.1:n.3911A>C
|
|
|
ENST00000681981.1:c.2689A>C
|
ENSP00000507672.1:p.Ile897Leu
|
|
|
ENST00000682022.1:c.*2665A>C
|
ENSP00000508118.1:n.*2665A>C
|
|
|
ENST00000682023.1:c.*2396A>C
|
ENSP00000507998.1:n.*2396A>C
|
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|
ENST00000682034.1:c.*1940A>C
|
ENSP00000506724.1:n.*1940A>C
|
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|
ENST00000682057.1:c.*2202A>C
|
ENSP00000507883.1:n.*2202A>C
|
|
|
ENST00000682083.1:c.*2683A>C
|
ENSP00000506859.1:n.*2683A>C
|
|
|
ENST00000682106.1:n.5287A>C
|
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|
ENST00000682133.1:c.*336A>C
|
ENSP00000507001.1:n.*336A>C
|
|
|
ENST00000682171.1:c.2614A>C
|
ENSP00000508327.1:p.Ile872Leu
|
|
|
ENST00000682174.1:c.*2396A>C
|
ENSP00000507248.1:n.*2396A>C
|
|
|
ENST00000682374.1:c.*1319A>C
|
ENSP00000507425.1:n.*1319A>C
|
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|
ENST00000682412.1:c.2613A>C
|
ENSP00000507297.1:n.2613A>C
|
|
|
ENST00000682454.1:c.*2136A>C
|
ENSP00000507851.1:n.*2136A>C
|
|
|
ENST00000682455.1:c.*3751A>C
|
ENSP00000507586.1:n.*3751A>C
|
|
|
ENST00000682464.1:c.*336A>C
|
ENSP00000507625.1:n.*336A>C
|
|
|
ENST00000682491.1:c.2485A>C
|
ENSP00000506970.1:p.Ile829Leu
|
|
|
ENST00000682497.1:c.2770A>C
|
ENSP00000507869.1:p.Ile924Leu
|
|
|
ENST00000682504.1:c.*2679A>C
|
ENSP00000507623.1:n.*2679A>C
|
|
|
ENST00000682514.1:n.8560A>C
|
|
|
|
ENST00000682594.1:n.3389A>C
|
|
|
|
ENST00000682633.1:c.*336A>C
|
ENSP00000507843.1:n.*336A>C
|
|
|
ENST00000682660.1:c.2512A>C
|
ENSP00000507539.1:p.Ile838Leu
|
|
|
ENST00000682682.1:c.2608A>C
|
ENSP00000507777.1:p.Ile870Leu
|
|
|
ENST00000682688.1:c.*1778A>C
|
ENSP00000507097.1:n.*1778A>C
|
|
|
ENST00000682694.1:c.*2136A>C
|
ENSP00000507387.1:n.*2136A>C
|
|
|
ENST00000682709.1:n.8692A>C
|
|
|
|
ENST00000682738.1:c.2581A>C
|
ENSP00000507742.1:p.Ile861Leu
|
|
|
ENST00000682776.1:c.*1524A>C
|
ENSP00000507490.1:n.*1524A>C
|
|
|
ENST00000682854.1:c.*2761A>C
|
ENSP00000507257.1:n.*2761A>C
|
|
|
ENST00000682878.1:c.*2461A>C
|
ENSP00000507360.1:n.*2461A>C
|
|
|
ENST00000682926.1:n.2180A>C
|
|
|
|
ENST00000682939.1:c.2485A>C
|
ENSP00000506902.1:p.Ile829Leu
|
|
|
ENST00000682991.1:c.2554A>C
|
ENSP00000508193.1:p.Ile852Leu
|
|
|
ENST00000682995.1:c.*1497A>C
|
ENSP00000506807.1:n.*1497A>C
|
|
|
ENST00000683073.1:c.*891A>C
|
ENSP00000507270.1:n.*891A>C
|
|
|
ENST00000683074.1:c.*2683A>C
|
ENSP00000507008.1:n.*2683A>C
|
|
|
ENST00000683085.1:c.*848A>C
|
ENSP00000507993.1:n.*848A>C
|
|
|
ENST00000683097.1:c.*1143A>C
|
ENSP00000507556.1:n.*1143A>C
|
|
|
ENST00000683126.1:c.*2293A>C
|
ENSP00000507507.1:n.*2293A>C
|
|
|
ENST00000683195.1:c.*2136A>C
|
ENSP00000508190.1:n.*2136A>C
|
|
|
ENST00000683196.1:c.*2136A>C
|
ENSP00000508297.1:n.*2136A>C
|
|
|
ENST00000683364.1:c.*2643A>C
|
ENSP00000507791.1:n.*2643A>C
|
|
|
ENST00000683436.1:c.*1804A>C
|
ENSP00000506874.1:n.*1804A>C
|
|
|
ENST00000683458.1:c.*1524A>C
|
ENSP00000508204.1:n.*1524A>C
|
|
|
ENST00000683473.1:n.3884A>C
|
|
|
|
ENST00000683479.1:c.2773A>C
|
ENSP00000507368.1:p.Ile925Leu
|
|
|
ENST00000683481.1:c.*1655A>C
|
ENSP00000507015.1:n.*1655A>C
|
|
|
ENST00000683541.1:c.2770A>C
|
ENSP00000507116.1:p.Ile924Leu
|
|
|
ENST00000683542.1:c.*2297A>C
|
ENSP00000506893.1:n.*2297A>C
|
|
|
ENST00000683577.1:c.*336A>C
|
ENSP00000507516.1:n.*336A>C
|
|
|
ENST00000683583.1:c.*5187A>C
|
ENSP00000507244.1:n.*5187A>C
|
|
|
ENST00000683643.1:c.2641A>C
|
ENSP00000507444.1:p.Ile881Leu
|
|
|
ENST00000683698.1:c.*2289A>C
|
ENSP00000507000.1:n.*2289A>C
|
|
|
ENST00000683726.1:c.*2293A>C
|
ENSP00000507744.1:n.*2293A>C
|
|
|
ENST00000683754.1:c.2692A>C
|
ENSP00000507707.1:p.Ile898Leu
|
|
|
ENST00000683763.1:n.1471A>C
|
|
|
|
ENST00000683785.1:c.2638A>C
|
ENSP00000507188.1:p.Ile880Leu
|
|
|
ENST00000683803.1:c.*1524A>C
|
ENSP00000508216.1:n.*1524A>C
|
|
|
ENST00000683857.1:c.*2202A>C
|
ENSP00000508015.1:n.*2202A>C
|
|
|
ENST00000683873.1:c.*2348A>C
|
ENSP00000506829.1:n.*2348A>C
|
|
|
ENST00000683878.1:c.*2054A>C
|
ENSP00000507449.1:n.*2054A>C
|
|
|
ENST00000683880.1:c.*2297A>C
|
ENSP00000508357.1:n.*2297A>C
|
|
|
ENST00000683898.1:c.2608A>C
|
ENSP00000506897.1:p.Ile870Leu
|
|
|
ENST00000683909.1:n.4803A>C
|
|
|
|
ENST00000684017.1:n.8285A>C
|
|
|
|
ENST00000684108.1:n.8692A>C
|
|
|
|
ENST00000684118.1:c.2743-6A>C
|
ENSP00000507950.1:n.2743-6A>C
|
|
|
ENST00000684150.1:c.2614A>C
|
ENSP00000507401.1:p.Ile872Leu
|
|
|
ENST00000684220.1:c.*2643A>C
|
ENSP00000507382.1:n.*2643A>C
|
|
|
ENST00000684239.1:c.*2398A>C
|
ENSP00000507479.1:n.*2398A>C
|
|
|
ENST00000684273.1:c.*2266A>C
|
ENSP00000508063.1:n.*2266A>C
|
|
|
ENST00000684281.1:c.2422A>C
|
ENSP00000507932.1:p.Ile808Leu
|
|
|
ENST00000684299.1:c.*336A>C
|
ENSP00000507637.1:n.*336A>C
|
|
|
ENST00000684319.1:c.*336A>C
|
ENSP00000508346.1:n.*336A>C
|
|
|
ENST00000684422.1:c.*2446A>C
|
ENSP00000507146.1:n.*2446A>C
|
|
|
ENST00000684451.1:c.*2078A>C
|
ENSP00000507384.1:n.*2078A>C
|
|
|
ENST00000684570.1:c.2836A>C
|
ENSP00000508127.1:p.Ile946Leu
|
|
|
ENST00000684581.1:c.*594A>C
|
ENSP00000507294.1:n.*594A>C
|
|
|
ENST00000684647.1:c.2482A>C
|
ENSP00000506873.1:p.Ile828Leu
|
|
|
ENST00000684680.1:c.2398A>C
|
ENSP00000507491.1:p.Ile800Leu
|
|
|
ENST00000684717.1:c.2890A>C
|
ENSP00000507024.1:p.Ile964Leu
|
|
|
ENST00000314673.8:c.2773A>C
MANE Select
|
ENSP00000313121.3:p.Ile925Leu
|
|
|
ENST00000314673.7:c.2773A>C
|
ENSP00000313121.3:p.Ile925Leu
|
|
|
ENST00000346348.7:c.2614A>C
|
ENSP00000257769.3:p.Ile872Leu
|
|
|
ENST00000369627.6:c.2746A>C
|
ENSP00000358641.2:p.Ile916Leu
|
|
|
ENST00000474645.6:n.518A>C
|
|
|
|
ENST00000503491.5:n.3262A>C
|
|
|
|
ENST00000505648.5:c.2617A>C
|
ENSP00000427380.1:p.Ile873Leu
|
|
|
ENST00000508658.5:c.489A>C
|
|
|
|
ENST00000508980.5:n.3379A>C
|
|
|
|
ENST00000513865.5:c.1930A>C
|
ENSP00000420938.1:p.Ile644Leu
|
|
|
NM_001297614.2:c.2746A>C
|
NP_001284543.1:p.Ile916Leu
|
|
|
NM_001304479.1:c.2617A>C
|
NP_001291408.1:p.Ile873Leu
|
|
|
NM_020468.5:c.2614A>C
|
NP_065201.1:p.Ile872Leu
|
|
|
NM_153816.5:c.2773A>C
|
NP_722523.1:p.Ile925Leu
|
|
|
XM_005248738.3:c.2770A>C
|
XP_005248795.1:p.Ile924Leu
|
|
|
XM_005248740.3:c.2641A>C
|
XP_005248797.1:p.Ile881Leu
|
|
|
XM_011535978.1:c.2554A>C
|
XP_011534280.1:p.Ile852Leu
|
|
|
XM_011535979.1:c.2485A>C
|
XP_011534281.1:p.Ile829Leu
|
|
|
XM_011535980.1:c.1618A>C
|
XP_011534282.1:p.Ile540Leu
|
|
|
XR_942523.1:n.2881A>C
|
|
|
|
NM_001350532.1:c.2836A>C
|
NP_001337461.1:p.Ile946Leu
|
|
|
NM_001350533.1:c.2770A>C
|
NP_001337462.1:p.Ile924Leu
|
|
|
NM_001350534.1:c.2743A>C
|
NP_001337463.1:p.Ile915Leu
|
|
|
NM_001350535.1:c.2743-6A>C
|
NP_001337464.1:n.2743-6A>C
|
|
|
NM_001350536.1:c.2641A>C
|
NP_001337465.1:p.Ile881Leu
|
|
|
NM_001350537.1:c.2638A>C
|
NP_001337466.1:p.Ile880Leu
|
|
|
NM_001350538.1:c.2629A>C
|
NP_001337467.1:p.Ile877Leu
|
|
|
NM_001350539.1:c.2614A>C
|
NP_001337468.1:p.Ile872Leu
|
|
|
NM_001350540.1:c.2608A>C
|
NP_001337469.1:p.Ile870Leu
|
|
|
NM_001350541.1:c.2581A>C
|
NP_001337470.1:p.Ile861Leu
|
|
|
NM_001350542.1:c.2485A>C
|
NP_001337471.1:p.Ile829Leu
|
|
|
NM_001350543.1:c.2482A>C
|
NP_001337472.1:p.Ile828Leu
|
|
|
NM_001350544.1:c.2473A>C
|
NP_001337473.1:p.Ile825Leu
|
|
|
NM_001350545.1:c.2329A>C
|
NP_001337474.1:p.Ile777Leu
|
|
|
NM_001350546.1:c.2329A>C
|
NP_001337475.1:p.Ile777Leu
|
|
|
NM_001350547.1:c.1723A>C
|
NP_001337476.1:p.Ile575Leu
|
|
|
NM_001350548.1:c.1618A>C
|
NP_001337477.1:p.Ile540Leu
|
|
|
NM_001350549.1:c.1618A>C
|
NP_001337478.1:p.Ile540Leu
|
|
|
NM_001350550.1:c.1618A>C
|
NP_001337479.1:p.Ile540Leu
|
|
|
NM_001350551.1:c.1618A>C
|
NP_001337480.1:p.Ile540Leu
|
|
|
NM_001350552.1:c.1618A>C
|
NP_001337481.1:p.Ile540Leu
|
|
|
NM_001350553.1:c.1591A>C
|
NP_001337482.1:p.Ile531Leu
|
|
|
NR_146774.1:n.3207A>C
|
|
|
|
NR_146775.1:n.3210A>C
|
|
|
|
NR_146776.1:n.3333A>C
|
|
|
|
NR_146777.1:n.3461A>C
|
|
|
|
NR_146778.1:n.3465A>C
|
|
|
|
NR_146779.1:n.3462A>C
|
|
|
|
XM_017011090.1:c.2614A>C
|
XP_016866579.1:p.Ile872Leu
|
|
|
XM_024446498.1:c.2482A>C
|
XP_024302266.1:p.Ile828Leu
|
|
|
XM_024446499.1:c.1618A>C
|
XP_024302267.1:p.Ile540Leu
|
|
|
NM_153816.6:c.2773A>C
MANE Select
|
NP_722523.1:p.Ile925Leu
|
|
|
NM_001297614.3:c.2746A>C
|
NP_001284543.1:p.Ile916Leu
|
|
|
NM_001304479.2:c.2617A>C
|
NP_001291408.1:p.Ile873Leu
|
|
|
NM_001350532.2:c.2836A>C
|
NP_001337461.1:p.Ile946Leu
|
|
|
NM_001350533.2:c.2770A>C
|
NP_001337462.1:p.Ile924Leu
|
|
|
NM_001350534.2:c.2743A>C
|
NP_001337463.1:p.Ile915Leu
|
|
|
NM_001350535.2:c.2743-6A>C
|
NP_001337464.1:n.2743-6A>C
|
|
|
NM_001350536.2:c.2641A>C
|
NP_001337465.1:p.Ile881Leu
|
|
|
NM_001350537.2:c.2638A>C
|
NP_001337466.1:p.Ile880Leu
|
|
|
NM_001350538.2:c.2629A>C
|
NP_001337467.1:p.Ile877Leu
|
|
|
NM_001350539.2:c.2614A>C
|
NP_001337468.1:p.Ile872Leu
|
|
|
NM_001350540.2:c.2608A>C
|
NP_001337469.1:p.Ile870Leu
|
|
|
NM_001350541.2:c.2581A>C
|
NP_001337470.1:p.Ile861Leu
|
|
|
NM_001350542.2:c.2485A>C
|
NP_001337471.1:p.Ile829Leu
|
|
|
NM_001350543.2:c.2482A>C
|
NP_001337472.1:p.Ile828Leu
|
|
|
NM_001350544.2:c.2473A>C
|
NP_001337473.1:p.Ile825Leu
|
|
|
NM_001350545.2:c.2329A>C
|
NP_001337474.1:p.Ile777Leu
|
|
|
NM_001350546.2:c.2329A>C
|
NP_001337475.1:p.Ile777Leu
|
|
|
NM_001350547.2:c.1723A>C
|
NP_001337476.1:p.Ile575Leu
|
|
|
NM_001350548.2:c.1618A>C
|
NP_001337477.1:p.Ile540Leu
|
|
|
NM_001350549.2:c.1618A>C
|
NP_001337478.1:p.Ile540Leu
|
|
|
NM_001350550.2:c.1618A>C
|
NP_001337479.1:p.Ile540Leu
|
|
|
NM_001350551.2:c.1618A>C
|
NP_001337480.1:p.Ile540Leu
|
|
|
NM_001350552.2:c.1618A>C
|
NP_001337481.1:p.Ile540Leu
|
|
|
NM_001350553.2:c.1591A>C
|
NP_001337482.1:p.Ile531Leu
|
|
|
NM_020468.6:c.2614A>C
|
NP_065201.1:p.Ile872Leu
|
|
|
NR_146774.2:n.2909A>C
|
|
|
|
NR_146775.2:n.2912A>C
|
|
|
|
NR_146776.2:n.3035A>C
|
|
|
|
NR_146777.2:n.3163A>C
|
|
|
|
NR_146778.2:n.3167A>C
|
|
|
|
NR_146779.2:n.3164A>C
|
|
|
