|
ENST00000524561.2:n.1702G>T
|
|
|
|
ENST00000529967.6:n.292G>T
|
|
|
|
ENST00000642611.2:n.2099G>T
|
|
|
|
ENST00000682051.1:n.2046G>T
|
|
|
|
ENST00000682110.1:n.2099G>T
|
|
|
|
ENST00000682140.1:c.2030G>T
|
ENSP00000507829.1:p.Cys677Phe
|
|
|
ENST00000682185.1:n.3338G>T
|
|
|
|
ENST00000682204.1:c.*171G>T
|
ENSP00000507094.1:n.*171G>T
|
|
|
ENST00000682215.1:n.2099G>T
|
|
|
|
ENST00000682288.1:c.*461G>T
|
ENSP00000507506.1:n.*461G>T
|
|
|
ENST00000682442.1:n.2220G>T
|
|
|
|
ENST00000682528.1:n.2099G>T
|
|
|
|
ENST00000682673.1:n.2046G>T
|
|
|
|
ENST00000682805.1:n.2099G>T
|
|
|
|
ENST00000682965.1:c.2030G>T
|
ENSP00000508229.1:p.Cys677Phe
|
|
|
ENST00000683093.1:n.2201G>T
|
|
|
|
ENST00000683136.1:c.2030G>T
|
ENSP00000507768.1:p.Cys677Phe
|
|
|
ENST00000683153.1:n.2258G>T
|
|
|
|
ENST00000683253.1:n.3115G>T
|
|
|
|
ENST00000683365.1:n.2201G>T
|
|
|
|
ENST00000683377.1:n.2099G>T
|
|
|
|
ENST00000683456.1:c.2030G>T
|
ENSP00000508318.1:p.Cys677Phe
|
|
|
ENST00000683522.1:n.2099G>T
|
|
|
|
ENST00000683562.1:c.*202G>T
|
ENSP00000508265.1:n.*202G>T
|
|
|
ENST00000683693.1:n.2099G>T
|
|
|
|
ENST00000683725.1:c.2033G>T
|
ENSP00000507496.1:p.Cys678Phe
|
|
|
ENST00000684010.1:n.2099G>T
|
|
|
|
ENST00000684157.1:n.2099G>T
|
|
|
|
ENST00000684253.1:n.2005G>T
|
|
|
|
ENST00000684288.1:c.*202G>T
|
ENSP00000507143.1:n.*202G>T
|
|
|
ENST00000684313.1:n.1724-11334G>T
|
|
|
|
ENST00000684332.1:n.2172G>T
|
|
|
|
ENST00000684371.1:n.2205G>T
|
|
|
|
ENST00000684404.1:n.2099G>T
|
|
|
|
ENST00000684442.1:n.2099G>T
|
|
|
|
ENST00000684555.1:c.*242G>T
|
ENSP00000507705.1:n.*242G>T
|
|
|
ENST00000684571.1:c.1874G>T
|
ENSP00000506935.1:p.Cys625Phe
|
|
|
ENST00000684593.1:c.*1738G>T
|
ENSP00000507005.1:n.*1738G>T
|
|
|
ENST00000684711.1:c.*429G>T
|
ENSP00000506841.1:n.*429G>T
|
|
|
ENST00000302539.9:c.2033G>T
|
ENSP00000303960.4:p.Cys678Phe
|
|
|
ENST00000389817.8:c.2033G>T
MANE Select
|
ENSP00000374467.4:p.Cys678Phe
|
|
|
ENST00000532728.6:c.1614G>T
|
|
|
|
ENST00000642271.1:c.2030G>T
|
ENSP00000493749.1:p.Cys677Phe
|
|
|
ENST00000642579.1:c.114G>T
|
|
|
|
ENST00000642611.1:n.1984G>T
|
|
|
|
ENST00000642902.1:c.1868G>T
|
|
|
|
ENST00000643260.1:c.2030G>T
|
ENSP00000494450.1:p.Cys677Phe
|
|
|
ENST00000643562.1:c.*9G>T
|
ENSP00000496124.1:n.*9G>T
|
|
|
ENST00000644447.1:c.386G>T
|
ENSP00000496282.1:p.Cys129Phe
|
|
|
ENST00000644472.1:c.*394G>T
|
ENSP00000495378.1:n.*394G>T
|
|
|
ENST00000644484.1:c.*242G>T
|
ENSP00000493558.1:n.*242G>T
|
|
|
ENST00000644542.1:c.*1735G>T
|
ENSP00000495532.1:n.*1735G>T
|
|
|
ENST00000644649.1:c.1203G>T
|
|
|
|
ENST00000644675.1:c.*202G>T
|
ENSP00000494567.1:n.*202G>T
|
|
|
ENST00000644757.1:c.*335G>T
|
ENSP00000495085.1:n.*335G>T
|
|
|
ENST00000644772.1:c.2099G>T
|
ENSP00000494321.1:p.Cys700Phe
|
|
|
ENST00000645076.1:c.1285G>T
|
|
|
|
ENST00000645744.1:c.*394G>T
|
ENSP00000494564.1:n.*394G>T
|
|
|
ENST00000645760.1:c.2308G>T
|
|
|
|
ENST00000645884.1:c.2030G>T
|
ENSP00000495516.1:p.Cys677Phe
|
|
|
ENST00000646003.1:c.*171G>T
|
ENSP00000495259.1:n.*171G>T
|
|
|
ENST00000646207.1:c.*394G>T
|
ENSP00000495025.1:n.*394G>T
|
|
|
ENST00000646276.1:c.*303G>T
|
ENSP00000496070.1:n.*303G>T
|
|
|
ENST00000646592.1:c.1256G>T
|
|
|
|
ENST00000646902.1:c.2030G>T
|
ENSP00000494101.1:p.Cys677Phe
|
|
|
ENST00000646993.1:c.*429G>T
|
ENSP00000493720.1:n.*429G>T
|
|
|
ENST00000647013.1:c.2036G>T
|
ENSP00000496741.1:n.2036G>T
|
|
|
ENST00000647015.1:c.1781G>T
|
ENSP00000495389.1:p.Cys594Phe
|
|
|
ENST00000647086.1:c.*1760G>T
|
ENSP00000493677.1:n.*1760G>T
|
|
|
ENST00000647158.1:c.*171G>T
|
ENSP00000495744.1:n.*171G>T
|
|
|
ENST00000302539.8:c.2033G>T
|
ENSP00000303960.4:p.Cys678Phe
|
|
|
ENST00000389817.7:c.2033G>T
|
ENSP00000374467.3:p.Cys678Phe
|
|
|
ENST00000527905.5:c.2003G>T
|
ENSP00000431653.1:p.Cys668Phe
|
|
|
NM_000352.4:c.2033G>T
|
NP_000343.2:p.Cys678Phe
|
|
|
NM_001287174.1:c.2033G>T
|
NP_001274103.1:p.Cys678Phe
|
|
|
XM_011520331.1:c.2030G>T
|
XP_011518633.1:p.Cys677Phe
|
|
|
XM_011520332.1:c.2033G>T
|
XP_011518634.1:p.Cys678Phe
|
|
|
XM_011520333.1:c.530G>T
|
XP_011518635.1:p.Cys177Phe
|
|
|
XM_011520334.1:c.2033G>T
|
XP_011518636.1:p.Cys678Phe
|
|
|
XR_930890.1:n.2096G>T
|
|
|
|
XR_930891.1:n.2096G>T
|
|
|
|
XR_930892.1:n.2096G>T
|
|
|
|
XR_930893.1:n.2096G>T
|
|
|
|
NM_001351295.1:c.2099G>T
|
NP_001338224.1:p.Cys700Phe
|
|
|
NM_001351296.1:c.2030G>T
|
NP_001338225.1:p.Cys677Phe
|
|
|
NM_001351297.1:c.2030G>T
|
NP_001338226.1:p.Cys677Phe
|
|
|
NR_147094.1:n.2099G>T
|
|
|
|
XM_017018197.2:c.2099G>T
|
XP_016873686.1:p.Cys700Phe
|
|
|
XM_017018199.1:c.2096G>T
|
XP_016873688.1:p.Cys699Phe
|
|
|
XM_017018201.2:c.2099G>T
|
XP_016873690.1:p.Cys700Phe
|
|
|
XM_017018202.1:c.596G>T
|
XP_016873691.1:p.Cys199Phe
|
|
|
XM_017018204.1:c.-11G>T
|
XP_016873693.1:n.-11G>T
|
|
|
XM_024448668.1:c.398G>T
|
XP_024304436.1:p.Cys133Phe
|
|
|
XR_001747945.2:n.2171G>T
|
|
|
|
XR_001747946.2:n.2105G>T
|
|
|
|
XR_002957189.1:n.2171G>T
|
|
|
|
NM_000352.6:c.2033G>T
MANE Select
|
NP_000343.2:p.Cys678Phe
|
|
|
NM_001287174.2:c.2033G>T
|
NP_001274103.1:p.Cys678Phe
|
|
|
NM_001351295.2:c.2099G>T
|
NP_001338224.1:p.Cys700Phe
|
|
|
NM_001351296.2:c.2030G>T
|
NP_001338225.1:p.Cys677Phe
|
|
|
NM_001351297.2:c.2030G>T
|
NP_001338226.1:p.Cys677Phe
|
|
|
NR_147094.2:n.2099G>T
|
|
|
|
NM_001287174.3:c.2033G>T
|
NP_001274103.1:p.Cys678Phe
|
|
