|
ENST00000524561.2:n.3683T>G
|
|
|
|
ENST00000528374.2:c.673T>G
|
|
|
|
ENST00000529967.6:n.2421T>G
|
|
|
|
ENST00000532220.2:n.2330T>G
|
|
|
|
ENST00000642611.2:n.4297T>G
|
|
|
|
ENST00000644057.2:n.525T>G
|
|
|
|
ENST00000645004.2:n.1581T>G
|
|
|
|
ENST00000682051.1:n.4244T>G
|
|
|
|
ENST00000682110.1:n.4297T>G
|
|
|
|
ENST00000682140.1:c.3985+240T>G
|
ENSP00000507829.1:n.3985+240T>G
|
|
|
ENST00000682185.1:n.5387T>G
|
|
|
|
ENST00000682204.1:c.*2220T>G
|
ENSP00000507094.1:n.*2220T>G
|
|
|
ENST00000682215.1:n.4664T>G
|
|
|
|
ENST00000682288.1:c.*2513T>G
|
ENSP00000507506.1:n.*2513T>G
|
|
|
ENST00000682442.1:n.4517T>G
|
|
|
|
ENST00000682528.1:n.4374T>G
|
|
|
|
ENST00000682673.1:n.4241T>G
|
|
|
|
ENST00000682805.1:n.4664T>G
|
|
|
|
ENST00000682965.1:c.*504T>G
|
ENSP00000508229.1:n.*504T>G
|
|
|
ENST00000683093.1:n.4396T>G
|
|
|
|
ENST00000683136.1:c.3965T>G
|
ENSP00000507768.1:p.Leu1322Arg
|
|
|
ENST00000683153.1:n.4339T>G
|
|
|
|
ENST00000683365.1:n.4399T>G
|
|
|
|
ENST00000683377.1:n.4297T>G
|
|
|
|
ENST00000683456.1:c.*1219T>G
|
ENSP00000508318.1:n.*1219T>G
|
|
|
ENST00000683522.1:n.4297T>G
|
|
|
|
ENST00000683562.1:c.*2251T>G
|
ENSP00000508265.1:n.*2251T>G
|
|
|
ENST00000683693.1:n.4744T>G
|
|
|
|
ENST00000683725.1:c.4082T>G
|
ENSP00000507496.1:p.Leu1361Arg
|
|
|
ENST00000684010.1:n.4292T>G
|
|
|
|
ENST00000684157.1:n.4297T>G
|
|
|
|
ENST00000684253.1:n.4200T>G
|
|
|
|
ENST00000684288.1:c.*2254T>G
|
ENSP00000507143.1:n.*2254T>G
|
|
|
ENST00000684313.1:n.3729T>G
|
|
|
|
ENST00000684332.1:n.4370T>G
|
|
|
|
ENST00000684371.1:n.4403T>G
|
|
|
|
ENST00000684404.1:n.4340T>G
|
|
|
|
ENST00000684442.1:n.4521T>G
|
|
|
|
ENST00000684555.1:c.*2294T>G
|
ENSP00000507705.1:n.*2294T>G
|
|
|
ENST00000684571.1:c.3923T>G
|
ENSP00000506935.1:p.Leu1308Arg
|
|
|
ENST00000684593.1:c.*3787T>G
|
ENSP00000507005.1:n.*3787T>G
|
|
|
ENST00000684711.1:c.*2478T>G
|
ENSP00000506841.1:n.*2478T>G
|
|
|
ENST00000302539.9:c.4085T>G
|
ENSP00000303960.4:p.Leu1362Arg
|
|
|
ENST00000389817.8:c.4082T>G
MANE Select
|
ENSP00000374467.4:p.Leu1361Arg
|
|
|
ENST00000642271.1:c.4079T>G
|
ENSP00000493749.1:p.Leu1360Arg
|
|
|
ENST00000642579.1:c.2136T>G
|
|
|
|
ENST00000642611.1:n.4182T>G
|
|
|
|
ENST00000642902.1:c.3864T>G
|
|
|
|
ENST00000643260.1:c.4082T>G
|
ENSP00000494450.1:p.Leu1361Arg
|
|
|
ENST00000643562.1:c.*2204T>G
|
ENSP00000496124.1:n.*2204T>G
|
|
|
ENST00000643925.1:c.2722T>G
|
|
|
|
ENST00000644057.1:n.159T>G
|
|
|
|
ENST00000644484.1:c.*2483T>G
|
ENSP00000493558.1:n.*2483T>G
|
|
|
ENST00000644675.1:c.*2254T>G
|
ENSP00000494567.1:n.*2254T>G
|
|
|
ENST00000644757.1:c.*2513T>G
|
ENSP00000495085.1:n.*2513T>G
|
|
|
ENST00000644772.1:c.4148T>G
|
ENSP00000494321.1:p.Leu1383Arg
|
|
|
ENST00000645004.1:n.1737T>G
|
|
|
|
ENST00000645076.1:c.3281T>G
|
|
|
|
ENST00000645417.1:c.1270T>G
|
|
|
|
ENST00000645744.1:c.*2862T>G
|
ENSP00000494564.1:n.*2862T>G
|
|
|
ENST00000645760.1:c.4503T>G
|
|
|
|
ENST00000645884.1:c.*1365T>G
|
ENSP00000495516.1:n.*1365T>G
|
|
|
ENST00000646003.1:c.*2184T>G
|
ENSP00000495259.1:n.*2184T>G
|
|
|
ENST00000646207.1:c.*2919T>G
|
ENSP00000495025.1:n.*2919T>G
|
|
|
ENST00000646276.1:c.*2501T>G
|
ENSP00000496070.1:n.*2501T>G
|
|
|
ENST00000646592.1:c.3388T>G
|
|
|
|
ENST00000646902.1:c.4049T>G
|
ENSP00000494101.1:p.Leu1350Arg
|
|
|
ENST00000646993.1:c.*2624T>G
|
ENSP00000493720.1:n.*2624T>G
|
|
|
ENST00000647013.1:c.4088T>G
|
ENSP00000496741.1:n.4088T>G
|
|
|
ENST00000647015.1:c.3833T>G
|
ENSP00000495389.1:p.Leu1278Arg
|
|
|
ENST00000647086.1:c.*3668T>G
|
ENSP00000493677.1:n.*3668T>G
|
|
|
ENST00000647158.1:c.*2369T>G
|
ENSP00000495744.1:n.*2369T>G
|
|
|
ENST00000302539.8:c.4085T>G
|
ENSP00000303960.4:p.Leu1362Arg
|
|
|
ENST00000389817.7:c.4082T>G
|
ENSP00000374467.3:p.Leu1361Arg
|
|
|
ENST00000527905.5:c.*1104T>G
|
ENSP00000431653.1:n.*1104T>G
|
|
|
ENST00000528374.1:c.564T>G
|
|
|
|
ENST00000531137.1:n.647T>G
|
|
|
|
ENST00000531891.1:c.420T>G
|
|
|
|
ENST00000532220.1:n.556T>G
|
|
|
|
NM_000352.4:c.4082T>G
|
NP_000343.2:p.Leu1361Arg
|
|
|
NM_001287174.1:c.4085T>G
|
NP_001274103.1:p.Leu1362Arg
|
|
|
XM_011520331.1:c.4082T>G
|
XP_011518633.1:p.Leu1361Arg
|
|
|
XM_011520332.1:c.4085T>G
|
XP_011518634.1:p.Leu1362Arg
|
|
|
XM_011520333.1:c.2582T>G
|
XP_011518635.1:p.Leu861Arg
|
|
|
XR_930890.1:n.4148T>G
|
|
|
|
NM_001351295.1:c.4148T>G
|
NP_001338224.1:p.Leu1383Arg
|
|
|
NM_001351296.1:c.4082T>G
|
NP_001338225.1:p.Leu1361Arg
|
|
|
NM_001351297.1:c.4079T>G
|
NP_001338226.1:p.Leu1360Arg
|
|
|
NR_147094.1:n.4377T>G
|
|
|
|
XM_017018197.2:c.4151T>G
|
XP_016873686.1:p.Leu1384Arg
|
|
|
XM_017018199.1:c.4148T>G
|
XP_016873688.1:p.Leu1383Arg
|
|
|
XM_017018201.2:c.4151T>G
|
XP_016873690.1:p.Leu1384Arg
|
|
|
XM_017018202.1:c.2648T>G
|
XP_016873691.1:p.Leu883Arg
|
|
|
XM_017018204.1:c.2039T>G
|
XP_016873693.1:p.Leu680Arg
|
|
|
XM_024448668.1:c.2450T>G
|
XP_024304436.1:p.Leu817Arg
|
|
|
XR_001747945.2:n.4223T>G
|
|
|
|
XR_001747946.2:n.4154T>G
|
|
|
|
XR_002957189.1:n.4819T>G
|
|
|
|
NM_000352.6:c.4082T>G
MANE Select
|
NP_000343.2:p.Leu1361Arg
|
|
|
NM_001287174.2:c.4085T>G
|
NP_001274103.1:p.Leu1362Arg
|
|
|
NM_001351295.2:c.4148T>G
|
NP_001338224.1:p.Leu1383Arg
|
|
|
NM_001351296.2:c.4082T>G
|
NP_001338225.1:p.Leu1361Arg
|
|
|
NM_001351297.2:c.4079T>G
|
NP_001338226.1:p.Leu1360Arg
|
|
|
NR_147094.2:n.4377T>G
|
|
|
|
NM_001287174.3:c.4085T>G
|
NP_001274103.1:p.Leu1362Arg
|
|
