|
ENST00000524561.2:n.1708A>T
|
|
|
|
ENST00000529967.6:n.298A>T
|
|
|
|
ENST00000642611.2:n.2105A>T
|
|
|
|
ENST00000682051.1:n.2052A>T
|
|
|
|
ENST00000682110.1:n.2105A>T
|
|
|
|
ENST00000682140.1:c.2036A>T
|
ENSP00000507829.1:p.Gln679Leu
|
|
|
ENST00000682185.1:n.3344A>T
|
|
|
|
ENST00000682204.1:c.*177A>T
|
ENSP00000507094.1:n.*177A>T
|
|
|
ENST00000682215.1:n.2105A>T
|
|
|
|
ENST00000682288.1:c.*467A>T
|
ENSP00000507506.1:n.*467A>T
|
|
|
ENST00000682442.1:n.2226A>T
|
|
|
|
ENST00000682528.1:n.2105A>T
|
|
|
|
ENST00000682673.1:n.2052A>T
|
|
|
|
ENST00000682805.1:n.2105A>T
|
|
|
|
ENST00000682965.1:c.2036A>T
|
ENSP00000508229.1:p.Gln679Leu
|
|
|
ENST00000683093.1:n.2207A>T
|
|
|
|
ENST00000683136.1:c.2036A>T
|
ENSP00000507768.1:p.Gln679Leu
|
|
|
ENST00000683153.1:n.2264A>T
|
|
|
|
ENST00000683253.1:n.3121A>T
|
|
|
|
ENST00000683365.1:n.2207A>T
|
|
|
|
ENST00000683377.1:n.2105A>T
|
|
|
|
ENST00000683456.1:c.2036A>T
|
ENSP00000508318.1:p.Gln679Leu
|
|
|
ENST00000683522.1:n.2105A>T
|
|
|
|
ENST00000683562.1:c.*208A>T
|
ENSP00000508265.1:n.*208A>T
|
|
|
ENST00000683693.1:n.2105A>T
|
|
|
|
ENST00000683725.1:c.2039A>T
|
ENSP00000507496.1:p.Gln680Leu
|
|
|
ENST00000684010.1:n.2105A>T
|
|
|
|
ENST00000684157.1:n.2105A>T
|
|
|
|
ENST00000684253.1:n.2011A>T
|
|
|
|
ENST00000684288.1:c.*208A>T
|
ENSP00000507143.1:n.*208A>T
|
|
|
ENST00000684313.1:n.1724-11328A>T
|
|
|
|
ENST00000684332.1:n.2178A>T
|
|
|
|
ENST00000684371.1:n.2211A>T
|
|
|
|
ENST00000684404.1:n.2105A>T
|
|
|
|
ENST00000684442.1:n.2105A>T
|
|
|
|
ENST00000684555.1:c.*248A>T
|
ENSP00000507705.1:n.*248A>T
|
|
|
ENST00000684571.1:c.1880A>T
|
ENSP00000506935.1:p.Gln627Leu
|
|
|
ENST00000684593.1:c.*1744A>T
|
ENSP00000507005.1:n.*1744A>T
|
|
|
ENST00000684711.1:c.*435A>T
|
ENSP00000506841.1:n.*435A>T
|
|
|
ENST00000302539.9:c.2039A>T
|
ENSP00000303960.4:p.Gln680Leu
|
|
|
ENST00000389817.8:c.2039A>T
MANE Select
|
ENSP00000374467.4:p.Gln680Leu
|
|
|
ENST00000532728.6:c.1620A>T
|
|
|
|
ENST00000642271.1:c.2036A>T
|
ENSP00000493749.1:p.Gln679Leu
|
|
|
ENST00000642579.1:c.120A>T
|
|
|
|
ENST00000642611.1:n.1990A>T
|
|
|
|
ENST00000642902.1:c.1874A>T
|
|
|
|
ENST00000643260.1:c.2036A>T
|
ENSP00000494450.1:p.Gln679Leu
|
|
|
ENST00000643562.1:c.*15A>T
|
ENSP00000496124.1:n.*15A>T
|
|
|
ENST00000644447.1:c.392A>T
|
ENSP00000496282.1:p.Gln131Leu
|
|
|
ENST00000644472.1:c.*400A>T
|
ENSP00000495378.1:n.*400A>T
|
|
|
ENST00000644484.1:c.*248A>T
|
ENSP00000493558.1:n.*248A>T
|
|
|
ENST00000644542.1:c.*1741A>T
|
ENSP00000495532.1:n.*1741A>T
|
|
|
ENST00000644649.1:c.1209A>T
|
|
|
|
ENST00000644675.1:c.*208A>T
|
ENSP00000494567.1:n.*208A>T
|
|
|
ENST00000644757.1:c.*341A>T
|
ENSP00000495085.1:n.*341A>T
|
|
|
ENST00000644772.1:c.2105A>T
|
ENSP00000494321.1:p.Gln702Leu
|
|
|
ENST00000645076.1:c.1291A>T
|
|
|
|
ENST00000645744.1:c.*400A>T
|
ENSP00000494564.1:n.*400A>T
|
|
|
ENST00000645760.1:c.2314A>T
|
|
|
|
ENST00000645884.1:c.2036A>T
|
ENSP00000495516.1:p.Gln679Leu
|
|
|
ENST00000646003.1:c.*177A>T
|
ENSP00000495259.1:n.*177A>T
|
|
|
ENST00000646207.1:c.*400A>T
|
ENSP00000495025.1:n.*400A>T
|
|
|
ENST00000646276.1:c.*309A>T
|
ENSP00000496070.1:n.*309A>T
|
|
|
ENST00000646592.1:c.1262A>T
|
|
|
|
ENST00000646902.1:c.2036A>T
|
ENSP00000494101.1:p.Gln679Leu
|
|
|
ENST00000646993.1:c.*435A>T
|
ENSP00000493720.1:n.*435A>T
|
|
|
ENST00000647013.1:c.2042A>T
|
ENSP00000496741.1:n.2042A>T
|
|
|
ENST00000647015.1:c.1787A>T
|
ENSP00000495389.1:p.Gln596Leu
|
|
|
ENST00000647086.1:c.*1766A>T
|
ENSP00000493677.1:n.*1766A>T
|
|
|
ENST00000647158.1:c.*177A>T
|
ENSP00000495744.1:n.*177A>T
|
|
|
ENST00000302539.8:c.2039A>T
|
ENSP00000303960.4:p.Gln680Leu
|
|
|
ENST00000389817.7:c.2039A>T
|
ENSP00000374467.3:p.Gln680Leu
|
|
|
ENST00000527905.5:c.2009A>T
|
ENSP00000431653.1:p.Gln670Leu
|
|
|
NM_000352.4:c.2039A>T
|
NP_000343.2:p.Gln680Leu
|
|
|
NM_001287174.1:c.2039A>T
|
NP_001274103.1:p.Gln680Leu
|
|
|
XM_011520331.1:c.2036A>T
|
XP_011518633.1:p.Gln679Leu
|
|
|
XM_011520332.1:c.2039A>T
|
XP_011518634.1:p.Gln680Leu
|
|
|
XM_011520333.1:c.536A>T
|
XP_011518635.1:p.Gln179Leu
|
|
|
XM_011520334.1:c.2039A>T
|
XP_011518636.1:p.Gln680Leu
|
|
|
XR_930890.1:n.2102A>T
|
|
|
|
XR_930891.1:n.2102A>T
|
|
|
|
XR_930892.1:n.2102A>T
|
|
|
|
XR_930893.1:n.2102A>T
|
|
|
|
NM_001351295.1:c.2105A>T
|
NP_001338224.1:p.Gln702Leu
|
|
|
NM_001351296.1:c.2036A>T
|
NP_001338225.1:p.Gln679Leu
|
|
|
NM_001351297.1:c.2036A>T
|
NP_001338226.1:p.Gln679Leu
|
|
|
NR_147094.1:n.2105A>T
|
|
|
|
XM_017018197.2:c.2105A>T
|
XP_016873686.1:p.Gln702Leu
|
|
|
XM_017018199.1:c.2102A>T
|
XP_016873688.1:p.Gln701Leu
|
|
|
XM_017018201.2:c.2105A>T
|
XP_016873690.1:p.Gln702Leu
|
|
|
XM_017018202.1:c.602A>T
|
XP_016873691.1:p.Gln201Leu
|
|
|
XM_017018204.1:c.-5A>T
|
XP_016873693.1:n.-5A>T
|
|
|
XM_024448668.1:c.404A>T
|
XP_024304436.1:p.Gln135Leu
|
|
|
XR_001747945.2:n.2177A>T
|
|
|
|
XR_001747946.2:n.2111A>T
|
|
|
|
XR_002957189.1:n.2177A>T
|
|
|
|
NM_000352.6:c.2039A>T
MANE Select
|
NP_000343.2:p.Gln680Leu
|
|
|
NM_001287174.2:c.2039A>T
|
NP_001274103.1:p.Gln680Leu
|
|
|
NM_001351295.2:c.2105A>T
|
NP_001338224.1:p.Gln702Leu
|
|
|
NM_001351296.2:c.2036A>T
|
NP_001338225.1:p.Gln679Leu
|
|
|
NM_001351297.2:c.2036A>T
|
NP_001338226.1:p.Gln679Leu
|
|
|
NR_147094.2:n.2105A>T
|
|
|
|
NM_001287174.3:c.2039A>T
|
NP_001274103.1:p.Gln680Leu
|
|
