|
ENST00000509514.6:c.1923G>T
|
ENSP00000426272.2:p.Trp641Cys
|
|
|
ENST00000518349.6:c.1236G>T
|
ENSP00000507185.1:p.Trp412Cys
|
|
|
ENST00000682445.1:c.*1873G>T
|
ENSP00000508061.1:n.*1873G>T
|
|
|
ENST00000682531.1:n.3884G>T
|
|
|
|
ENST00000682626.1:c.*1498G>T
|
ENSP00000507857.1:n.*1498G>T
|
|
|
ENST00000682996.1:c.1920G>T
|
ENSP00000507792.1:p.Trp640Cys
|
|
|
ENST00000683265.1:n.3778G>T
|
|
|
|
ENST00000683335.1:n.3394G>T
|
|
|
|
ENST00000683371.1:c.*2122G>T
|
ENSP00000508376.1:n.*2122G>T
|
|
|
ENST00000683372.1:n.4002G>T
|
|
|
|
ENST00000683390.1:n.3682G>T
|
|
|
|
ENST00000683476.1:n.834G>T
|
|
|
|
ENST00000683549.1:n.3606G>T
|
|
|
|
ENST00000683936.1:c.*3570G>T
|
ENSP00000507721.1:n.*3570G>T
|
|
|
ENST00000683974.1:n.3721G>T
|
|
|
|
ENST00000683996.1:c.*1202G>T
|
ENSP00000507060.1:n.*1202G>T
|
|
|
ENST00000684131.1:n.3524G>T
|
|
|
|
ENST00000684160.1:c.*1682G>T
|
ENSP00000507821.1:n.*1682G>T
|
|
|
ENST00000684214.1:c.1854+1423G>T
|
ENSP00000508071.1:n.1854+1423G>T
|
|
|
ENST00000414835.7:c.2067G>T
|
ENSP00000411960.3:p.Trp689Cys
|
|
|
ENST00000510025.7:c.1992G>T
MANE Select
|
ENSP00000424940.3:p.Trp664Cys
|
|
|
ENST00000643250.1:c.*1864G>T
|
ENSP00000494737.1:n.*1864G>T
|
|
|
ENST00000644146.1:c.*3263G>T
|
ENSP00000494808.1:n.*3263G>T
|
|
|
ENST00000645099.1:c.1551G>T
|
ENSP00000496091.1:p.Trp517Cys
|
|
|
ENST00000645702.1:c.*1395G>T
|
ENSP00000496432.1:n.*1395G>T
|
|
|
ENST00000645832.1:c.*1877G>T
|
ENSP00000494316.1:n.*1877G>T
|
|
|
ENST00000646058.1:c.1992G>T
|
ENSP00000493579.1:p.Trp664Cys
|
|
|
ENST00000646355.1:c.*1998G>T
|
ENSP00000493801.1:n.*1998G>T
|
|
|
ENST00000646554.1:c.*1970G>T
|
ENSP00000494542.1:n.*1970G>T
|
|
|
ENST00000647335.1:c.*1959G>T
|
ENSP00000495180.1:n.*1959G>T
|
|
|
ENST00000647342.1:c.*1923G>T
|
ENSP00000494992.1:n.*1923G>T
|
|
|
ENST00000256216.10:c.1992G>T
|
ENSP00000256216.6:p.Trp664Cys
|
|
|
ENST00000414835.6:c.1572G>T
|
ENSP00000411960.2:p.Trp524Cys
|
|
|
ENST00000442060.7:c.*547G>T
|
ENSP00000390208.3:n.*547G>T
|
|
|
ENST00000504811.5:c.2067G>T
|
ENSP00000420914.1:p.Trp689Cys
|
|
|
ENST00000509514.5:c.1206G>T
|
ENSP00000426272.1:p.Trp402Cys
|
|
|
ENST00000509606.1:n.287G>T
|
|
|
|
ENST00000509951.5:n.309+1423G>T
|
|
|
|
ENST00000510025.5:c.1920G>T
|
ENSP00000424940.1:p.Trp640Cys
|
|
|
ENST00000513628.5:c.1581G>T
|
ENSP00000425993.1:p.Trp527Cys
|
|
|
ENST00000515235.6:n.3745G>T
|
|
|
|
ENST00000515320.5:c.1938G>T
|
ENSP00000424613.1:p.Trp646Cys
|
|
|
ENST00000522415.5:n.659G>T
|
|
|
|
NM_000414.3:c.1992G>T
|
NP_000405.1:p.Trp664Cys
|
|
|
NM_001199291.2:c.2067G>T
|
NP_001186220.1:p.Trp689Cys
|
|
|
NM_001199292.1:c.1938G>T
|
NP_001186221.1:p.Trp646Cys
|
|
|
NM_001292027.1:c.1920G>T
|
NP_001278956.1:p.Trp640Cys
|
|
|
NM_001292028.1:c.1572G>T
|
NP_001278957.1:p.Trp524Cys
|
|
|
NM_000414.4:c.1992G>T
MANE Select
|
NP_000405.1:p.Trp664Cys
|
|
|
NM_001199291.3:c.2067G>T
|
NP_001186220.1:p.Trp689Cys
|
|
|
NM_001199292.2:c.1938G>T
|
NP_001186221.1:p.Trp646Cys
|
|
|
NM_001292027.2:c.1920G>T
|
NP_001278956.1:p.Trp640Cys
|
|
|
NM_001292028.2:c.1572G>T
|
NP_001278957.1:p.Trp524Cys
|
|
|
NM_001374497.1:c.1983G>T
|
NP_001361426.1:p.Trp661Cys
|
|
|
NM_001374498.1:c.1920G>T
|
NP_001361427.1:p.Trp640Cys
|
|
|
NM_001374499.1:c.1665G>T
|
NP_001361428.1:p.Trp555Cys
|
|
|
NM_001374500.1:c.1551G>T
|
NP_001361429.1:p.Trp517Cys
|
|
|
NM_001374501.1:c.1581G>T
|
NP_001361430.1:p.Trp527Cys
|
|
|
NM_001374502.1:c.1581G>T
|
NP_001361431.1:p.Trp527Cys
|
|
|
NM_001374503.1:c.1581G>T
|
NP_001361432.1:p.Trp527Cys
|
|
|
NR_164653.1:n.2089G>T
|
|
|
|
NR_164654.1:n.2357G>T
|
|
|
