|
ENST00000418862.2:c.922C>T
|
ENSP00000391981.2:p.Leu308Phe
|
|
|
ENST00000508658.6:c.2794C>T
|
ENSP00000422814.2:p.Leu932Phe
|
|
|
ENST00000509338.6:c.1915C>T
|
ENSP00000424302.2:p.Leu639Phe
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|
|
ENST00000514801.2:n.2011C>T
|
|
|
|
ENST00000515216.6:c.2761C>T
|
ENSP00000425630.2:p.Leu921Phe
|
|
|
ENST00000681965.1:c.3932C>T
|
ENSP00000507317.1:n.3932C>T
|
|
|
ENST00000681981.1:c.2710C>T
|
ENSP00000507672.1:p.Leu904Phe
|
|
|
ENST00000682022.1:c.*2686C>T
|
ENSP00000508118.1:n.*2686C>T
|
|
|
ENST00000682023.1:c.*2417C>T
|
ENSP00000507998.1:n.*2417C>T
|
|
|
ENST00000682034.1:c.*1961C>T
|
ENSP00000506724.1:n.*1961C>T
|
|
|
ENST00000682057.1:c.*2223C>T
|
ENSP00000507883.1:n.*2223C>T
|
|
|
ENST00000682083.1:c.*2704C>T
|
ENSP00000506859.1:n.*2704C>T
|
|
|
ENST00000682106.1:n.5308C>T
|
|
|
|
ENST00000682133.1:c.*357C>T
|
ENSP00000507001.1:n.*357C>T
|
|
|
ENST00000682171.1:c.2635C>T
|
ENSP00000508327.1:p.Leu879Phe
|
|
|
ENST00000682174.1:c.*2417C>T
|
ENSP00000507248.1:n.*2417C>T
|
|
|
ENST00000682374.1:c.*1340C>T
|
ENSP00000507425.1:n.*1340C>T
|
|
|
ENST00000682412.1:c.2634C>T
|
ENSP00000507297.1:n.2634C>T
|
|
|
ENST00000682454.1:c.*2157C>T
|
ENSP00000507851.1:n.*2157C>T
|
|
|
ENST00000682455.1:c.*3772C>T
|
ENSP00000507586.1:n.*3772C>T
|
|
|
ENST00000682464.1:c.*357C>T
|
ENSP00000507625.1:n.*357C>T
|
|
|
ENST00000682491.1:c.2506C>T
|
ENSP00000506970.1:p.Leu836Phe
|
|
|
ENST00000682497.1:c.2791C>T
|
ENSP00000507869.1:p.Leu931Phe
|
|
|
ENST00000682504.1:c.*2700C>T
|
ENSP00000507623.1:n.*2700C>T
|
|
|
ENST00000682514.1:n.8581C>T
|
|
|
|
ENST00000682594.1:n.3410C>T
|
|
|
|
ENST00000682633.1:c.*357C>T
|
ENSP00000507843.1:n.*357C>T
|
|
|
ENST00000682660.1:c.2533C>T
|
ENSP00000507539.1:p.Leu845Phe
|
|
|
ENST00000682682.1:c.2629C>T
|
ENSP00000507777.1:p.Leu877Phe
|
|
|
ENST00000682688.1:c.*1799C>T
|
ENSP00000507097.1:n.*1799C>T
|
|
|
ENST00000682694.1:c.*2157C>T
|
ENSP00000507387.1:n.*2157C>T
|
|
|
ENST00000682709.1:n.8713C>T
|
|
|
|
ENST00000682738.1:c.2602C>T
|
ENSP00000507742.1:p.Leu868Phe
|
|
|
ENST00000682776.1:c.*1545C>T
|
ENSP00000507490.1:n.*1545C>T
|
|
|
ENST00000682854.1:c.*2782C>T
|
ENSP00000507257.1:n.*2782C>T
|
|
|
ENST00000682878.1:c.*2482C>T
|
ENSP00000507360.1:n.*2482C>T
|
|
|
ENST00000682926.1:n.2201C>T
|
|
|
|
ENST00000682939.1:c.2506C>T
|
ENSP00000506902.1:p.Leu836Phe
|
|
|
ENST00000682991.1:c.2575C>T
|
ENSP00000508193.1:p.Leu859Phe
|
|
|
ENST00000682995.1:c.*1518C>T
|
ENSP00000506807.1:n.*1518C>T
|
|
|
ENST00000683073.1:c.*912C>T
|
ENSP00000507270.1:n.*912C>T
|
|
|
ENST00000683074.1:c.*2704C>T
|
ENSP00000507008.1:n.*2704C>T
|
|
|
ENST00000683085.1:c.*869C>T
|
ENSP00000507993.1:n.*869C>T
|
|
|
ENST00000683097.1:c.*1164C>T
|
ENSP00000507556.1:n.*1164C>T
|
|
|
ENST00000683126.1:c.*2314C>T
|
ENSP00000507507.1:n.*2314C>T
|
|
|
ENST00000683195.1:c.*2157C>T
|
ENSP00000508190.1:n.*2157C>T
|
|
|
ENST00000683196.1:c.*2157C>T
|
ENSP00000508297.1:n.*2157C>T
|
|
|
ENST00000683364.1:c.*2664C>T
|
ENSP00000507791.1:n.*2664C>T
|
|
|
ENST00000683436.1:c.*1825C>T
|
ENSP00000506874.1:n.*1825C>T
|
|
|
ENST00000683458.1:c.*1545C>T
|
ENSP00000508204.1:n.*1545C>T
|
|
|
ENST00000683473.1:n.3905C>T
|
|
|
|
ENST00000683479.1:c.2794C>T
|
ENSP00000507368.1:p.Leu932Phe
|
|
|
ENST00000683481.1:c.*1676C>T
|
ENSP00000507015.1:n.*1676C>T
|
|
|
ENST00000683541.1:c.2791C>T
|
ENSP00000507116.1:p.Leu931Phe
|
|
|
ENST00000683542.1:c.*2318C>T
|
ENSP00000506893.1:n.*2318C>T
|
|
|
ENST00000683577.1:c.*357C>T
|
ENSP00000507516.1:n.*357C>T
|
|
|
ENST00000683583.1:c.*5208C>T
|
ENSP00000507244.1:n.*5208C>T
|
|
|
ENST00000683643.1:c.2662C>T
|
ENSP00000507444.1:p.Leu888Phe
|
|
|
ENST00000683698.1:c.*2310C>T
|
ENSP00000507000.1:n.*2310C>T
|
|
|
ENST00000683726.1:c.*2314C>T
|
ENSP00000507744.1:n.*2314C>T
|
|
|
ENST00000683754.1:c.2713C>T
|
ENSP00000507707.1:p.Leu905Phe
|
|
|
ENST00000683763.1:n.1492C>T
|
|
|
|
ENST00000683785.1:c.2659C>T
|
ENSP00000507188.1:p.Leu887Phe
|
|
|
ENST00000683803.1:c.*1545C>T
|
ENSP00000508216.1:n.*1545C>T
|
|
|
ENST00000683857.1:c.*2223C>T
|
ENSP00000508015.1:n.*2223C>T
|
|
|
ENST00000683873.1:c.*2369C>T
|
ENSP00000506829.1:n.*2369C>T
|
|
|
ENST00000683878.1:c.*2075C>T
|
ENSP00000507449.1:n.*2075C>T
|
|
|
ENST00000683880.1:c.*2318C>T
|
ENSP00000508357.1:n.*2318C>T
|
|
|
ENST00000683898.1:c.2629C>T
|
ENSP00000506897.1:p.Leu877Phe
|
|
|
ENST00000683909.1:n.4824C>T
|
|
|
|
ENST00000684017.1:n.8306C>T
|
|
|
|
ENST00000684108.1:n.8713C>T
|
|
|
|
ENST00000684118.1:c.2758C>T
|
ENSP00000507950.1:p.Leu920Phe
|
|
|
ENST00000684150.1:c.2635C>T
|
ENSP00000507401.1:p.Leu879Phe
|
|
|
ENST00000684220.1:c.*2664C>T
|
ENSP00000507382.1:n.*2664C>T
|
|
|
ENST00000684239.1:c.*2419C>T
|
ENSP00000507479.1:n.*2419C>T
|
|
|
ENST00000684273.1:c.*2287C>T
|
ENSP00000508063.1:n.*2287C>T
|
|
|
ENST00000684281.1:c.2443C>T
|
ENSP00000507932.1:p.Leu815Phe
|
|
|
ENST00000684299.1:c.*357C>T
|
ENSP00000507637.1:n.*357C>T
|
|
|
ENST00000684319.1:c.*357C>T
|
ENSP00000508346.1:n.*357C>T
|
|
|
ENST00000684422.1:c.*2467C>T
|
ENSP00000507146.1:n.*2467C>T
|
|
|
ENST00000684451.1:c.*2099C>T
|
ENSP00000507384.1:n.*2099C>T
|
|
|
ENST00000684570.1:c.2857C>T
|
ENSP00000508127.1:p.Leu953Phe
|
|
|
ENST00000684581.1:c.*615C>T
|
ENSP00000507294.1:n.*615C>T
|
|
|
ENST00000684647.1:c.2503C>T
|
ENSP00000506873.1:p.Leu835Phe
|
|
|
ENST00000684680.1:c.2419C>T
|
ENSP00000507491.1:p.Leu807Phe
|
|
|
ENST00000684717.1:c.2911C>T
|
ENSP00000507024.1:p.Leu971Phe
|
|
|
ENST00000314673.8:c.2794C>T
MANE Select
|
ENSP00000313121.3:p.Leu932Phe
|
|
|
ENST00000314673.7:c.2794C>T
|
ENSP00000313121.3:p.Leu932Phe
|
|
|
ENST00000346348.7:c.2635C>T
|
ENSP00000257769.3:p.Leu879Phe
|
|
|
ENST00000369627.6:c.2767C>T
|
ENSP00000358641.2:p.Leu923Phe
|
|
|
ENST00000474645.6:n.539C>T
|
|
|
|
ENST00000503491.5:n.3283C>T
|
|
|
|
ENST00000505648.5:c.2638C>T
|
ENSP00000427380.1:p.Leu880Phe
|
|
|
ENST00000508658.5:c.510C>T
|
|
|
|
ENST00000508980.5:n.3400C>T
|
|
|
|
ENST00000513865.5:c.1951C>T
|
ENSP00000420938.1:p.Leu651Phe
|
|
|
NM_001297614.2:c.2767C>T
|
NP_001284543.1:p.Leu923Phe
|
|
|
NM_001304479.1:c.2638C>T
|
NP_001291408.1:p.Leu880Phe
|
|
|
NM_020468.5:c.2635C>T
|
NP_065201.1:p.Leu879Phe
|
|
|
NM_153816.5:c.2794C>T
|
NP_722523.1:p.Leu932Phe
|
|
|
XM_005248738.3:c.2791C>T
|
XP_005248795.1:p.Leu931Phe
|
|
|
XM_005248740.3:c.2662C>T
|
XP_005248797.1:p.Leu888Phe
|
|
|
XM_011535978.1:c.2575C>T
|
XP_011534280.1:p.Leu859Phe
|
|
|
XM_011535979.1:c.2506C>T
|
XP_011534281.1:p.Leu836Phe
|
|
|
XM_011535980.1:c.1639C>T
|
XP_011534282.1:p.Leu547Phe
|
|
|
XR_942523.1:n.2902C>T
|
|
|
|
NM_001350532.1:c.2857C>T
|
NP_001337461.1:p.Leu953Phe
|
|
|
NM_001350533.1:c.2791C>T
|
NP_001337462.1:p.Leu931Phe
|
|
|
NM_001350534.1:c.2764C>T
|
NP_001337463.1:p.Leu922Phe
|
|
|
NM_001350535.1:c.2758C>T
|
NP_001337464.1:p.Leu920Phe
|
|
|
NM_001350536.1:c.2662C>T
|
NP_001337465.1:p.Leu888Phe
|
|
|
NM_001350537.1:c.2659C>T
|
NP_001337466.1:p.Leu887Phe
|
|
|
NM_001350538.1:c.2650C>T
|
NP_001337467.1:p.Leu884Phe
|
|
|
NM_001350539.1:c.2635C>T
|
NP_001337468.1:p.Leu879Phe
|
|
|
NM_001350540.1:c.2629C>T
|
NP_001337469.1:p.Leu877Phe
|
|
|
NM_001350541.1:c.2602C>T
|
NP_001337470.1:p.Leu868Phe
|
|
|
NM_001350542.1:c.2506C>T
|
NP_001337471.1:p.Leu836Phe
|
|
|
NM_001350543.1:c.2503C>T
|
NP_001337472.1:p.Leu835Phe
|
|
|
NM_001350544.1:c.2494C>T
|
NP_001337473.1:p.Leu832Phe
|
|
|
NM_001350545.1:c.2350C>T
|
NP_001337474.1:p.Leu784Phe
|
|
|
NM_001350546.1:c.2350C>T
|
NP_001337475.1:p.Leu784Phe
|
|
|
NM_001350547.1:c.1744C>T
|
NP_001337476.1:p.Leu582Phe
|
|
|
NM_001350548.1:c.1639C>T
|
NP_001337477.1:p.Leu547Phe
|
|
|
NM_001350549.1:c.1639C>T
|
NP_001337478.1:p.Leu547Phe
|
|
|
NM_001350550.1:c.1639C>T
|
NP_001337479.1:p.Leu547Phe
|
|
|
NM_001350551.1:c.1639C>T
|
NP_001337480.1:p.Leu547Phe
|
|
|
NM_001350552.1:c.1639C>T
|
NP_001337481.1:p.Leu547Phe
|
|
|
NM_001350553.1:c.1612C>T
|
NP_001337482.1:p.Leu538Phe
|
|
|
NR_146774.1:n.3228C>T
|
|
|
|
NR_146775.1:n.3231C>T
|
|
|
|
NR_146776.1:n.3354C>T
|
|
|
|
NR_146777.1:n.3482C>T
|
|
|
|
NR_146778.1:n.3486C>T
|
|
|
|
NR_146779.1:n.3483C>T
|
|
|
|
XM_017011090.1:c.2635C>T
|
XP_016866579.1:p.Leu879Phe
|
|
|
XM_024446498.1:c.2503C>T
|
XP_024302266.1:p.Leu835Phe
|
|
|
XM_024446499.1:c.1639C>T
|
XP_024302267.1:p.Leu547Phe
|
|
|
NM_153816.6:c.2794C>T
MANE Select
|
NP_722523.1:p.Leu932Phe
|
|
|
NM_001297614.3:c.2767C>T
|
NP_001284543.1:p.Leu923Phe
|
|
|
NM_001304479.2:c.2638C>T
|
NP_001291408.1:p.Leu880Phe
|
|
|
NM_001350532.2:c.2857C>T
|
NP_001337461.1:p.Leu953Phe
|
|
|
NM_001350533.2:c.2791C>T
|
NP_001337462.1:p.Leu931Phe
|
|
|
NM_001350534.2:c.2764C>T
|
NP_001337463.1:p.Leu922Phe
|
|
|
NM_001350535.2:c.2758C>T
|
NP_001337464.1:p.Leu920Phe
|
|
|
NM_001350536.2:c.2662C>T
|
NP_001337465.1:p.Leu888Phe
|
|
|
NM_001350537.2:c.2659C>T
|
NP_001337466.1:p.Leu887Phe
|
|
|
NM_001350538.2:c.2650C>T
|
NP_001337467.1:p.Leu884Phe
|
|
|
NM_001350539.2:c.2635C>T
|
NP_001337468.1:p.Leu879Phe
|
|
|
NM_001350540.2:c.2629C>T
|
NP_001337469.1:p.Leu877Phe
|
|
|
NM_001350541.2:c.2602C>T
|
NP_001337470.1:p.Leu868Phe
|
|
|
NM_001350542.2:c.2506C>T
|
NP_001337471.1:p.Leu836Phe
|
|
|
NM_001350543.2:c.2503C>T
|
NP_001337472.1:p.Leu835Phe
|
|
|
NM_001350544.2:c.2494C>T
|
NP_001337473.1:p.Leu832Phe
|
|
|
NM_001350545.2:c.2350C>T
|
NP_001337474.1:p.Leu784Phe
|
|
|
NM_001350546.2:c.2350C>T
|
NP_001337475.1:p.Leu784Phe
|
|
|
NM_001350547.2:c.1744C>T
|
NP_001337476.1:p.Leu582Phe
|
|
|
NM_001350548.2:c.1639C>T
|
NP_001337477.1:p.Leu547Phe
|
|
|
NM_001350549.2:c.1639C>T
|
NP_001337478.1:p.Leu547Phe
|
|
|
NM_001350550.2:c.1639C>T
|
NP_001337479.1:p.Leu547Phe
|
|
|
NM_001350551.2:c.1639C>T
|
NP_001337480.1:p.Leu547Phe
|
|
|
NM_001350552.2:c.1639C>T
|
NP_001337481.1:p.Leu547Phe
|
|
|
NM_001350553.2:c.1612C>T
|
NP_001337482.1:p.Leu538Phe
|
|
|
NM_020468.6:c.2635C>T
|
NP_065201.1:p.Leu879Phe
|
|
|
NR_146774.2:n.2930C>T
|
|
|
|
NR_146775.2:n.2933C>T
|
|
|
|
NR_146776.2:n.3056C>T
|
|
|
|
NR_146777.2:n.3184C>T
|
|
|
|
NR_146778.2:n.3188C>T
|
|
|
|
NR_146779.2:n.3185C>T
|
|
|
