|
ENST00000369635.7:c.973G>C
|
ENSP00000358649.3:p.Val325Leu
|
|
|
ENST00000508658.6:c.1105G>C
|
ENSP00000422814.2:p.Val369Leu
|
|
|
ENST00000509338.6:c.1105G>C
|
ENSP00000424302.2:p.Val369Leu
|
|
|
ENST00000513869.2:c.*467+1G>C
|
ENSP00000426806.2:n.*467+1G>C
|
|
|
ENST00000514419.6:c.*936G>C
|
ENSP00000425387.2:n.*936G>C
|
|
|
ENST00000515216.6:c.1105G>C
|
ENSP00000425630.2:p.Val369Leu
|
|
|
ENST00000681965.1:c.2243G>C
|
ENSP00000507317.1:n.2243G>C
|
|
|
ENST00000681981.1:c.1105G>C
|
ENSP00000507672.1:p.Val369Leu
|
|
|
ENST00000682022.1:c.*997G>C
|
ENSP00000508118.1:n.*997G>C
|
|
|
ENST00000682023.1:c.*728G>C
|
ENSP00000507998.1:n.*728G>C
|
|
|
ENST00000682034.1:c.*275+391G>C
|
ENSP00000506724.1:n.*275+391G>C
|
|
|
ENST00000682057.1:c.*534G>C
|
ENSP00000507883.1:n.*534G>C
|
|
|
ENST00000682083.1:c.*1015G>C
|
ENSP00000506859.1:n.*1015G>C
|
|
|
ENST00000682106.1:n.3631G>C
|
|
|
|
ENST00000682133.1:c.1102G>C
|
ENSP00000507001.1:p.Val368Leu
|
|
|
ENST00000682168.1:n.1284G>C
|
|
|
|
ENST00000682171.1:c.946G>C
|
ENSP00000508327.1:p.Val316Leu
|
|
|
ENST00000682174.1:c.*728G>C
|
ENSP00000507248.1:n.*728G>C
|
|
|
ENST00000682374.1:c.1102G>C
|
ENSP00000507425.1:p.Val368Leu
|
|
|
ENST00000682412.1:c.945G>C
|
ENSP00000507297.1:n.945G>C
|
|
|
ENST00000682454.1:c.*468G>C
|
ENSP00000507851.1:n.*468G>C
|
|
|
ENST00000682455.1:c.1105G>C
|
ENSP00000507586.1:p.Val369Leu
|
|
|
ENST00000682464.1:c.1105G>C
|
ENSP00000507625.1:p.Val369Leu
|
|
|
ENST00000682491.1:c.817G>C
|
ENSP00000506970.1:p.Val273Leu
|
|
|
ENST00000682497.1:c.1102G>C
|
ENSP00000507869.1:p.Val368Leu
|
|
|
ENST00000682504.1:c.*1014+1G>C
|
ENSP00000507623.1:n.*1014+1G>C
|
|
|
ENST00000682514.1:n.1152G>C
|
|
|
|
ENST00000682594.1:n.1169G>C
|
|
|
|
ENST00000682633.1:c.946G>C
|
ENSP00000507843.1:p.Val316Leu
|
|
|
ENST00000682660.1:c.1105G>C
|
ENSP00000507539.1:p.Val369Leu
|
|
|
ENST00000682682.1:c.1105G>C
|
ENSP00000507777.1:p.Val369Leu
|
|
|
ENST00000682688.1:c.1104+1G>C
|
ENSP00000507097.1:n.1104+1G>C
|
|
|
ENST00000682694.1:c.*468G>C
|
ENSP00000507387.1:n.*468G>C
|
|
|
ENST00000682709.1:n.1284G>C
|
|
|
|
ENST00000682738.1:c.1105G>C
|
ENSP00000507742.1:p.Val369Leu
|
|
|
ENST00000682776.1:c.948+1G>C
|
ENSP00000507490.1:n.948+1G>C
|
|
|
ENST00000682854.1:c.*1093G>C
|
ENSP00000507257.1:n.*1093G>C
|
|
|
ENST00000682878.1:c.*793G>C
|
ENSP00000507360.1:n.*793G>C
|
|
|
ENST00000682939.1:c.817G>C
|
ENSP00000506902.1:p.Val273Leu
|
|
|
ENST00000682991.1:c.1105G>C
|
ENSP00000508193.1:p.Val369Leu
|
|
|
ENST00000682995.1:c.948+1G>C
|
ENSP00000506807.1:n.948+1G>C
|
|
|
ENST00000683073.1:c.1105G>C
|
ENSP00000507270.1:p.Val369Leu
|
|
|
ENST00000683074.1:c.*1015G>C
|
ENSP00000507008.1:n.*1015G>C
|
|
|
ENST00000683085.1:c.1105G>C
|
ENSP00000507993.1:p.Val369Leu
|
|
|
ENST00000683097.1:c.1105G>C
|
ENSP00000507556.1:p.Val369Leu
|
|
|
ENST00000683126.1:c.*625G>C
|
ENSP00000507507.1:n.*625G>C
|
|
|
ENST00000683195.1:c.*468G>C
|
ENSP00000508190.1:n.*468G>C
|
|
|
ENST00000683196.1:c.*468G>C
|
ENSP00000508297.1:n.*468G>C
|
|
|
ENST00000683364.1:c.*987G>C
|
ENSP00000507791.1:n.*987G>C
|
|
|
ENST00000683436.1:c.*1015G>C
|
ENSP00000506874.1:n.*1015G>C
|
|
|
ENST00000683458.1:c.972+1G>C
|
ENSP00000508204.1:n.972+1G>C
|
|
|
ENST00000683473.1:n.1284G>C
|
|
|
|
ENST00000683479.1:c.1105G>C
|
ENSP00000507368.1:p.Val369Leu
|
|
|
ENST00000683481.1:c.1105G>C
|
ENSP00000507015.1:p.Val369Leu
|
|
|
ENST00000683541.1:c.1102G>C
|
ENSP00000507116.1:p.Val368Leu
|
|
|
ENST00000683542.1:c.*629G>C
|
ENSP00000506893.1:n.*629G>C
|
|
|
ENST00000683577.1:c.973G>C
|
ENSP00000507516.1:p.Val325Leu
|
|
|
ENST00000683583.1:c.1105G>C
|
ENSP00000507244.1:p.Val369Leu
|
|
|
ENST00000683643.1:c.973G>C
|
ENSP00000507444.1:p.Val325Leu
|
|
|
ENST00000683698.1:c.*624+1G>C
|
ENSP00000507000.1:n.*624+1G>C
|
|
|
ENST00000683726.1:c.*628+1G>C
|
ENSP00000507744.1:n.*628+1G>C
|
|
|
ENST00000683754.1:c.1024G>C
|
ENSP00000507707.1:p.Val342Leu
|
|
|
ENST00000683759.1:n.1284G>C
|
|
|
|
ENST00000683785.1:c.970G>C
|
ENSP00000507188.1:p.Val324Leu
|
|
|
ENST00000683803.1:c.1104+1G>C
|
ENSP00000508216.1:n.1104+1G>C
|
|
|
ENST00000683857.1:c.*534G>C
|
ENSP00000508015.1:n.*534G>C
|
|
|
ENST00000683873.1:c.*680G>C
|
ENSP00000506829.1:n.*680G>C
|
|
|
ENST00000683878.1:c.*386G>C
|
ENSP00000507449.1:n.*386G>C
|
|
|
ENST00000683880.1:c.*629G>C
|
ENSP00000508357.1:n.*629G>C
|
|
|
ENST00000683898.1:c.940G>C
|
ENSP00000506897.1:p.Val314Leu
|
|
|
ENST00000683909.1:n.3147G>C
|
|
|
|
ENST00000683999.1:n.1162G>C
|
|
|
|
ENST00000684017.1:n.877G>C
|
|
|
|
ENST00000684108.1:n.1284G>C
|
|
|
|
ENST00000684118.1:c.1102G>C
|
ENSP00000507950.1:p.Val368Leu
|
|
|
ENST00000684150.1:c.946G>C
|
ENSP00000507401.1:p.Val316Leu
|
|
|
ENST00000684220.1:c.*987G>C
|
ENSP00000507382.1:n.*987G>C
|
|
|
ENST00000684239.1:c.*730G>C
|
ENSP00000507479.1:n.*730G>C
|
|
|
ENST00000684273.1:c.*601+1G>C
|
ENSP00000508063.1:n.*601+1G>C
|
|
|
ENST00000684281.1:c.973G>C
|
ENSP00000507932.1:p.Val325Leu
|
|
|
ENST00000684299.1:c.949G>C
|
ENSP00000507637.1:p.Val317Leu
|
|
|
ENST00000684319.1:c.1105G>C
|
ENSP00000508346.1:p.Val369Leu
|
|
|
ENST00000684422.1:c.*778G>C
|
ENSP00000507146.1:n.*778G>C
|
|
|
ENST00000684451.1:c.*629G>C
|
ENSP00000507384.1:n.*629G>C
|
|
|
ENST00000684462.1:c.*1015G>C
|
ENSP00000507581.1:n.*1015G>C
|
|
|
ENST00000684570.1:c.1168G>C
|
ENSP00000508127.1:p.Val390Leu
|
|
|
ENST00000684581.1:c.1102G>C
|
ENSP00000507294.1:p.Val368Leu
|
|
|
ENST00000684647.1:c.814G>C
|
ENSP00000506873.1:p.Val272Leu
|
|
|
ENST00000684680.1:c.949G>C
|
ENSP00000507491.1:p.Val317Leu
|
|
|
ENST00000684717.1:c.1105G>C
|
ENSP00000507024.1:p.Val369Leu
|
|
|
ENST00000314673.8:c.1105G>C
MANE Select
|
ENSP00000313121.3:p.Val369Leu
|
|
|
ENST00000314673.7:c.1105G>C
|
ENSP00000313121.3:p.Val369Leu
|
|
|
ENST00000346348.7:c.973G>C
|
ENSP00000257769.3:p.Val325Leu
|
|
|
ENST00000369627.6:c.1105G>C
|
ENSP00000358641.2:p.Val369Leu
|
|
|
ENST00000369635.6:c.*468G>C
|
ENSP00000358649.2:n.*468G>C
|
|
|
ENST00000503491.5:n.1594G>C
|
|
|
|
ENST00000505648.5:c.949G>C
|
ENSP00000427380.1:p.Val317Leu
|
|
|
ENST00000508980.5:n.1741+1G>C
|
|
|
|
ENST00000513865.5:c.1105G>C
|
ENSP00000420938.1:p.Val369Leu
|
|
|
ENST00000515216.5:c.886G>C
|
ENSP00000425630.1:p.Val296Leu
|
|
|
NM_001297614.2:c.1105G>C
|
NP_001284543.1:p.Val369Leu
|
|
|
NM_001304479.1:c.949G>C
|
NP_001291408.1:p.Val317Leu
|
|
|
NM_020468.5:c.973G>C
|
NP_065201.1:p.Val325Leu
|
|
|
NM_153816.5:c.1105G>C
|
NP_722523.1:p.Val369Leu
|
|
|
XM_005248738.3:c.1102G>C
|
XP_005248795.1:p.Val368Leu
|
|
|
XM_005248740.3:c.973G>C
|
XP_005248797.1:p.Val325Leu
|
|
|
XM_011535977.1:c.949G>C
|
XP_011534279.1:p.Val317Leu
|
|
|
XM_011535978.1:c.886G>C
|
XP_011534280.1:p.Val296Leu
|
|
|
XM_011535979.1:c.817G>C
|
XP_011534281.1:p.Val273Leu
|
|
|
XM_011535980.1:c.-48+1G>C
|
XP_011534282.1:n.-48+1G>C
|
|
|
XR_942523.1:n.959G>C
|
|
|
|
NM_001350532.1:c.1168G>C
|
NP_001337461.1:p.Val390Leu
|
|
|
NM_001350533.1:c.1102G>C
|
NP_001337462.1:p.Val368Leu
|
|
|
NM_001350534.1:c.1102G>C
|
NP_001337463.1:p.Val368Leu
|
|
|
NM_001350535.1:c.1102G>C
|
NP_001337464.1:p.Val368Leu
|
|
|
NM_001350536.1:c.973G>C
|
NP_001337465.1:p.Val325Leu
|
|
|
NM_001350537.1:c.970G>C
|
NP_001337466.1:p.Val324Leu
|
|
|
NM_001350538.1:c.961G>C
|
NP_001337467.1:p.Val321Leu
|
|
|
NM_001350539.1:c.946G>C
|
NP_001337468.1:p.Val316Leu
|
|
|
NM_001350540.1:c.1105G>C
|
NP_001337469.1:p.Val369Leu
|
|
|
NM_001350541.1:c.1105G>C
|
NP_001337470.1:p.Val369Leu
|
|
|
NM_001350542.1:c.817G>C
|
NP_001337471.1:p.Val273Leu
|
|
|
NM_001350543.1:c.814G>C
|
NP_001337472.1:p.Val272Leu
|
|
|
NM_001350544.1:c.805G>C
|
NP_001337473.1:p.Val269Leu
|
|
|
NM_001350545.1:c.661G>C
|
NP_001337474.1:p.Val221Leu
|
|
|
NM_001350546.1:c.661G>C
|
NP_001337475.1:p.Val221Leu
|
|
|
NM_001350547.1:c.55G>C
|
NP_001337476.1:p.Val19Leu
|
|
|
NM_001350548.1:c.-48+1G>C
|
NP_001337477.1:n.-48+1G>C
|
|
|
NM_001350549.1:c.-48+1G>C
|
NP_001337478.1:n.-48+1G>C
|
|
|
NM_001350550.1:c.-48+1G>C
|
NP_001337479.1:n.-48+1G>C
|
|
|
NM_001350551.1:c.-48+1G>C
|
NP_001337480.1:n.-48+1G>C
|
|
|
NM_001350552.1:c.-79G>C
|
NP_001337481.1:n.-79G>C
|
|
|
NM_001350553.1:c.-48+1G>C
|
NP_001337482.1:n.-48+1G>C
|
|
|
NR_146774.1:n.1285G>C
|
|
|
|
NR_146775.1:n.1288G>C
|
|
|
|
NR_146776.1:n.1411G>C
|
|
|
|
NR_146777.1:n.1542+1G>C
|
|
|
|
NR_146778.1:n.1543G>C
|
|
|
|
NR_146779.1:n.1540G>C
|
|
|
|
XM_011535977.2:c.949G>C
|
XP_011534279.1:p.Val317Leu
|
|
|
XM_017011090.1:c.946G>C
|
XP_016866579.1:p.Val316Leu
|
|
|
XM_024446498.1:c.814G>C
|
XP_024302266.1:p.Val272Leu
|
|
|
XM_024446499.1:c.-79G>C
|
XP_024302267.1:n.-79G>C
|
|
|
NM_153816.6:c.1105G>C
MANE Select
|
NP_722523.1:p.Val369Leu
|
|
|
NM_001297614.3:c.1105G>C
|
NP_001284543.1:p.Val369Leu
|
|
|
NM_001304479.2:c.949G>C
|
NP_001291408.1:p.Val317Leu
|
|
|
NM_001350532.2:c.1168G>C
|
NP_001337461.1:p.Val390Leu
|
|
|
NM_001350533.2:c.1102G>C
|
NP_001337462.1:p.Val368Leu
|
|
|
NM_001350534.2:c.1102G>C
|
NP_001337463.1:p.Val368Leu
|
|
|
NM_001350535.2:c.1102G>C
|
NP_001337464.1:p.Val368Leu
|
|
|
NM_001350536.2:c.973G>C
|
NP_001337465.1:p.Val325Leu
|
|
|
NM_001350537.2:c.970G>C
|
NP_001337466.1:p.Val324Leu
|
|
|
NM_001350538.2:c.961G>C
|
NP_001337467.1:p.Val321Leu
|
|
|
NM_001350539.2:c.946G>C
|
NP_001337468.1:p.Val316Leu
|
|
|
NM_001350540.2:c.1105G>C
|
NP_001337469.1:p.Val369Leu
|
|
|
NM_001350541.2:c.1105G>C
|
NP_001337470.1:p.Val369Leu
|
|
|
NM_001350542.2:c.817G>C
|
NP_001337471.1:p.Val273Leu
|
|
|
NM_001350543.2:c.814G>C
|
NP_001337472.1:p.Val272Leu
|
|
|
NM_001350544.2:c.805G>C
|
NP_001337473.1:p.Val269Leu
|
|
|
NM_001350545.2:c.661G>C
|
NP_001337474.1:p.Val221Leu
|
|
|
NM_001350546.2:c.661G>C
|
NP_001337475.1:p.Val221Leu
|
|
|
NM_001350547.2:c.55G>C
|
NP_001337476.1:p.Val19Leu
|
|
|
NM_001350548.2:c.-48+1G>C
|
NP_001337477.1:n.-48+1G>C
|
|
|
NM_001350549.2:c.-48+1G>C
|
NP_001337478.1:n.-48+1G>C
|
|
|
NM_001350550.2:c.-48+1G>C
|
NP_001337479.1:n.-48+1G>C
|
|
|
NM_001350551.2:c.-48+1G>C
|
NP_001337480.1:n.-48+1G>C
|
|
|
NM_001350552.2:c.-79G>C
|
NP_001337481.1:n.-79G>C
|
|
|
NM_001350553.2:c.-48+1G>C
|
NP_001337482.1:n.-48+1G>C
|
|
|
NM_020468.6:c.973G>C
|
NP_065201.1:p.Val325Leu
|
|
|
NR_146774.2:n.987G>C
|
|
|
|
NR_146775.2:n.990G>C
|
|
|
|
NR_146776.2:n.1113G>C
|
|
|
|
NR_146777.2:n.1244+1G>C
|
|
|
|
NR_146778.2:n.1245G>C
|
|
|
|
NR_146779.2:n.1242G>C
|
|
|
