|
ENST00000509514.6:c.1867G>C
|
ENSP00000426272.2:p.Val623Leu
|
|
|
ENST00000518349.6:c.1180G>C
|
ENSP00000507185.1:p.Val394Leu
|
|
|
ENST00000682445.1:c.*1817G>C
|
ENSP00000508061.1:n.*1817G>C
|
|
|
ENST00000682531.1:n.3828G>C
|
|
|
|
ENST00000682626.1:c.*1442G>C
|
ENSP00000507857.1:n.*1442G>C
|
|
|
ENST00000682996.1:c.1864G>C
|
ENSP00000507792.1:p.Val622Leu
|
|
|
ENST00000683265.1:n.3722G>C
|
|
|
|
ENST00000683335.1:n.3338G>C
|
|
|
|
ENST00000683371.1:c.*2066G>C
|
ENSP00000508376.1:n.*2066G>C
|
|
|
ENST00000683372.1:n.3946G>C
|
|
|
|
ENST00000683390.1:n.3626G>C
|
|
|
|
ENST00000683476.1:n.778G>C
|
|
|
|
ENST00000683549.1:n.3550G>C
|
|
|
|
ENST00000683936.1:c.*3514G>C
|
ENSP00000507721.1:n.*3514G>C
|
|
|
ENST00000683974.1:n.3665G>C
|
|
|
|
ENST00000683996.1:c.*1146G>C
|
ENSP00000507060.1:n.*1146G>C
|
|
|
ENST00000684131.1:n.3468G>C
|
|
|
|
ENST00000684160.1:c.*1626G>C
|
ENSP00000507821.1:n.*1626G>C
|
|
|
ENST00000684214.1:c.1854+1367G>C
|
ENSP00000508071.1:n.1854+1367G>C
|
|
|
ENST00000414835.7:c.2011G>C
|
ENSP00000411960.3:p.Val671Leu
|
|
|
ENST00000510025.7:c.1936G>C
MANE Select
|
ENSP00000424940.3:p.Val646Leu
|
|
|
ENST00000643250.1:c.*1808G>C
|
ENSP00000494737.1:n.*1808G>C
|
|
|
ENST00000644146.1:c.*3207G>C
|
ENSP00000494808.1:n.*3207G>C
|
|
|
ENST00000645099.1:c.1495G>C
|
ENSP00000496091.1:p.Val499Leu
|
|
|
ENST00000645702.1:c.*1339G>C
|
ENSP00000496432.1:n.*1339G>C
|
|
|
ENST00000645832.1:c.*1821G>C
|
ENSP00000494316.1:n.*1821G>C
|
|
|
ENST00000646058.1:c.1936G>C
|
ENSP00000493579.1:p.Val646Leu
|
|
|
ENST00000646355.1:c.*1942G>C
|
ENSP00000493801.1:n.*1942G>C
|
|
|
ENST00000646554.1:c.*1914G>C
|
ENSP00000494542.1:n.*1914G>C
|
|
|
ENST00000647335.1:c.*1903G>C
|
ENSP00000495180.1:n.*1903G>C
|
|
|
ENST00000647342.1:c.*1867G>C
|
ENSP00000494992.1:n.*1867G>C
|
|
|
ENST00000256216.10:c.1936G>C
|
ENSP00000256216.6:p.Val646Leu
|
|
|
ENST00000414835.6:c.1516G>C
|
ENSP00000411960.2:p.Val506Leu
|
|
|
ENST00000442060.7:c.*491G>C
|
ENSP00000390208.3:n.*491G>C
|
|
|
ENST00000504811.5:c.2011G>C
|
ENSP00000420914.1:p.Val671Leu
|
|
|
ENST00000509514.5:c.1150G>C
|
ENSP00000426272.1:p.Val384Leu
|
|
|
ENST00000509606.1:n.231G>C
|
|
|
|
ENST00000509951.5:n.309+1367G>C
|
|
|
|
ENST00000510025.5:c.1864G>C
|
ENSP00000424940.1:p.Val622Leu
|
|
|
ENST00000513628.5:c.1525G>C
|
ENSP00000425993.1:p.Val509Leu
|
|
|
ENST00000515235.6:n.3689G>C
|
|
|
|
ENST00000515320.5:c.1882G>C
|
ENSP00000424613.1:p.Val628Leu
|
|
|
ENST00000522415.5:n.603G>C
|
|
|
|
NM_000414.3:c.1936G>C
|
NP_000405.1:p.Val646Leu
|
|
|
NM_001199291.2:c.2011G>C
|
NP_001186220.1:p.Val671Leu
|
|
|
NM_001199292.1:c.1882G>C
|
NP_001186221.1:p.Val628Leu
|
|
|
NM_001292027.1:c.1864G>C
|
NP_001278956.1:p.Val622Leu
|
|
|
NM_001292028.1:c.1516G>C
|
NP_001278957.1:p.Val506Leu
|
|
|
NM_000414.4:c.1936G>C
MANE Select
|
NP_000405.1:p.Val646Leu
|
|
|
NM_001199291.3:c.2011G>C
|
NP_001186220.1:p.Val671Leu
|
|
|
NM_001199292.2:c.1882G>C
|
NP_001186221.1:p.Val628Leu
|
|
|
NM_001292027.2:c.1864G>C
|
NP_001278956.1:p.Val622Leu
|
|
|
NM_001292028.2:c.1516G>C
|
NP_001278957.1:p.Val506Leu
|
|
|
NM_001374497.1:c.1927G>C
|
NP_001361426.1:p.Val643Leu
|
|
|
NM_001374498.1:c.1864G>C
|
NP_001361427.1:p.Val622Leu
|
|
|
NM_001374499.1:c.1609G>C
|
NP_001361428.1:p.Val537Leu
|
|
|
NM_001374500.1:c.1495G>C
|
NP_001361429.1:p.Val499Leu
|
|
|
NM_001374501.1:c.1525G>C
|
NP_001361430.1:p.Val509Leu
|
|
|
NM_001374502.1:c.1525G>C
|
NP_001361431.1:p.Val509Leu
|
|
|
NM_001374503.1:c.1525G>C
|
NP_001361432.1:p.Val509Leu
|
|
|
NR_164653.1:n.2033G>C
|
|
|
|
NR_164654.1:n.2301G>C
|
|
|
