|
ENST00000574886.2:n.1469A>T
|
|
|
|
ENST00000576677.6:n.1390A>T
|
|
|
|
ENST00000681983.1:n.2397A>T
|
|
|
|
ENST00000682099.1:n.1158A>T
|
|
|
|
ENST00000682213.1:c.*232A>T
|
ENSP00000508166.1:n.*232A>T
|
|
|
ENST00000682315.1:c.575A>T
|
ENSP00000507232.1:p.Glu192Val
|
|
|
ENST00000682479.1:c.2351A>T
|
ENSP00000508214.1:p.Glu784Val
|
|
|
ENST00000682610.1:n.1501A>T
|
|
|
|
ENST00000682654.1:c.*232A>T
|
ENSP00000507412.1:n.*232A>T
|
|
|
ENST00000682722.1:c.2210A>T
|
ENSP00000508364.1:p.Glu737Val
|
|
|
ENST00000683041.1:c.*232A>T
|
ENSP00000506994.1:n.*232A>T
|
|
|
ENST00000683184.1:c.*1914A>T
|
ENSP00000507757.1:n.*1914A>T
|
|
|
ENST00000683282.1:c.2177A>T
|
ENSP00000506913.1:p.Glu726Val
|
|
|
ENST00000683444.1:c.*1838A>T
|
ENSP00000507553.1:n.*1838A>T
|
|
|
ENST00000683584.1:n.1084A>T
|
|
|
|
ENST00000683821.1:c.575A>T
|
ENSP00000507651.1:p.Glu192Val
|
|
|
ENST00000683839.1:n.1715A>T
|
|
|
|
ENST00000684000.1:c.2345A>T
|
ENSP00000506795.1:p.Glu782Val
|
|
|
ENST00000684188.1:c.2072A>T
|
ENSP00000507153.1:p.Glu691Val
|
|
|
ENST00000684349.1:c.2447A>T
|
ENSP00000508067.1:p.Glu816Val
|
|
|
ENST00000684361.1:c.2261A>T
|
ENSP00000507364.1:p.Glu754Val
|
|
|
ENST00000684408.1:c.1904A>T
|
ENSP00000506837.1:p.Glu635Val
|
|
|
ENST00000684429.1:c.2189A>T
|
ENSP00000507224.1:p.Glu730Val
|
|
|
ENST00000684464.1:c.2354A>T
|
ENSP00000508333.1:p.Glu785Val
|
|
|
ENST00000684544.1:c.2180A>T
|
ENSP00000507337.1:p.Glu727Val
|
|
|
ENST00000684559.1:n.1016A>T
|
|
|
|
ENST00000684760.1:c.2528A>T
|
ENSP00000507696.1:p.Glu843Val
|
|
|
ENST00000684776.1:c.*744A>T
|
ENSP00000507861.1:n.*744A>T
|
|
|
ENST00000355528.9:c.2261A>T
MANE Select
|
ENSP00000347719.4:p.Glu754Val
|
|
|
ENST00000355528.8:c.2261A>T
|
ENSP00000347719.4:p.Glu754Val
|
|
|
ENST00000539345.6:c.2261A>T
|
ENSP00000440671.2:p.Glu754Val
|
|
|
ENST00000571618.5:n.439A>T
|
|
|
|
ENST00000571796.5:n.919A>T
|
|
|
|
ENST00000574422.1:c.575A>T
|
ENSP00000458599.1:p.Glu192Val
|
|
|
ENST00000574818.5:n.319A>T
|
|
|
|
ENST00000574886.1:n.645A>T
|
|
|
|
ENST00000574975.5:c.638A>T
|
ENSP00000461680.1:p.Glu213Val
|
|
|
ENST00000576760.5:c.575A>T
|
ENSP00000460949.1:p.Glu192Val
|
|
|
NM_005993.4:c.2261A>T
|
NP_005984.3:p.Glu754Val
|
|
|
XM_005256396.3:c.2210A>T
|
XP_005256453.1:p.Glu737Val
|
|
|
XM_005256399.3:c.977A>T
|
XP_005256456.1:p.Glu326Val
|
|
|
XM_005256400.3:c.575A>T
|
XP_005256457.1:p.Glu192Val
|
|
|
XM_005256401.3:c.575A>T
|
XP_005256458.1:p.Glu192Val
|
|
|
XM_005256402.3:c.575A>T
|
XP_005256459.1:p.Glu192Val
|
|
|
XM_005256403.3:c.575A>T
|
XP_005256460.1:p.Glu192Val
|
|
|
XM_005256404.3:c.575A>T
|
XP_005256461.1:p.Glu192Val
|
|
|
XM_006722290.2:c.2180A>T
|
XP_006722353.1:p.Glu727Val
|
|
|
XM_006722291.2:c.965A>T
|
XP_006722354.1:p.Glu322Val
|
|
|
XM_006722292.2:c.575A>T
|
XP_006722355.1:p.Glu192Val
|
|
|
XM_011523589.1:c.1916A>T
|
XP_011521891.1:p.Glu639Val
|
|
|
XM_011523590.1:c.1904A>T
|
XP_011521892.1:p.Glu635Val
|
|
|
XM_011523591.1:c.1901A>T
|
XP_011521893.1:p.Glu634Val
|
|
|
XM_011523592.1:c.1814A>T
|
XP_011521894.1:p.Glu605Val
|
|
|
XM_011523593.1:c.1508A>T
|
XP_011521895.1:p.Glu503Val
|
|
|
XM_011523594.1:c.989A>T
|
XP_011521896.1:p.Glu330Val
|
|
|
XM_011523595.1:c.956A>T
|
XP_011521897.1:p.Glu319Val
|
|
|
XM_011523596.1:c.2179A>T
|
XP_011521898.1:p.Arg727Trp
|
|
|
XM_011523597.1:c.722A>T
|
XP_011521899.1:p.Glu241Val
|
|
|
XM_011523598.1:c.719A>T
|
XP_011521900.1:p.Glu240Val
|
|
|
XM_011523599.1:c.713A>T
|
XP_011521901.1:p.Glu238Val
|
|
|
XM_011523600.1:c.575A>T
|
XP_011521902.1:p.Glu192Val
|
|
|
XR_430033.2:n.2369A>T
|
|
|
|
XM_005256396.4:c.2210A>T
|
XP_005256453.1:p.Glu737Val
|
|
|
XM_005256399.5:c.977A>T
|
XP_005256456.1:p.Glu326Val
|
|
|
XM_005256404.4:c.575A>T
|
XP_005256461.1:p.Glu192Val
|
|
|
XM_006722291.4:c.965A>T
|
XP_006722354.1:p.Glu322Val
|
|
|
XM_006722292.3:c.575A>T
|
XP_006722355.1:p.Glu192Val
|
|
|
XM_011523589.2:c.1916A>T
|
XP_011521891.1:p.Glu639Val
|
|
|
XM_011523591.2:c.1901A>T
|
XP_011521893.1:p.Glu634Val
|
|
|
XM_011523593.2:c.1508A>T
|
XP_011521895.1:p.Glu503Val
|
|
|
XM_011523594.2:c.989A>T
|
XP_011521896.1:p.Glu330Val
|
|
|
XM_011523595.3:c.956A>T
|
XP_011521897.1:p.Glu319Val
|
|
|
XM_011523597.2:c.722A>T
|
XP_011521899.1:p.Glu241Val
|
|
|
XM_011523599.2:c.713A>T
|
XP_011521901.1:p.Glu238Val
|
|
|
XM_011523600.3:c.575A>T
|
XP_011521902.1:p.Glu192Val
|
|
|
XM_017024987.1:c.2072A>T
|
XP_016880476.1:p.Glu691Val
|
|
|
XM_017024989.1:c.623A>T
|
XP_016880478.1:p.Glu208Val
|
|
|
XM_017024990.2:c.575A>T
|
XP_016880479.1:p.Glu192Val
|
|
|
XM_024450899.1:c.575A>T
|
XP_024306667.1:p.Glu192Val
|
|
|
XM_024450900.1:c.575A>T
|
XP_024306668.1:p.Glu192Val
|
|
|
XM_024450901.1:c.575A>T
|
XP_024306669.1:p.Glu192Val
|
|
|
XM_024450902.1:c.575A>T
|
XP_024306670.1:p.Glu192Val
|
|
|
XR_001752597.1:n.2369A>T
|
|
|
|
XR_001752598.1:n.2369A>T
|
|
|
|
XR_001752599.1:n.2369A>T
|
|
|
|
XR_001752600.1:n.2287A>T
|
|
|
|
NM_005993.5:c.2261A>T
MANE Select
|
NP_005984.3:p.Glu754Val
|
|
