|
ENST00000341012.13:c.1922G>T
|
ENSP00000343034.7:p.Arg641Leu
|
|
|
ENST00000404875.7:n.2624G>T
|
|
|
|
ENST00000423007.6:c.2141G>T
|
ENSP00000404119.2:p.Arg714Leu
|
|
|
ENST00000677295.2:c.*2428G>T
|
ENSP00000504346.2:n.*2428G>T
|
|
|
ENST00000678264.2:c.*2267G>T
|
ENSP00000503157.2:n.*2267G>T
|
|
|
ENST00000682070.1:n.2394G>T
|
|
|
|
ENST00000682639.1:c.81G>T
|
|
|
|
ENST00000682813.1:n.2481G>T
|
|
|
|
ENST00000683231.1:c.81G>T
|
|
|
|
ENST00000683392.1:n.4676G>T
|
|
|
|
ENST00000683712.1:n.2489G>T
|
|
|
|
ENST00000683900.1:n.3984G>T
|
|
|
|
ENST00000684062.1:n.2750G>T
|
|
|
|
ENST00000684399.1:c.81G>T
|
|
|
|
ENST00000684579.1:n.3930G>T
|
|
|
|
ENST00000341012.12:c.1922G>T
|
ENSP00000343034.7:p.Arg641Leu
|
|
|
ENST00000372220.5:c.953G>T
|
ENSP00000361294.5:p.Arg318Leu
|
|
|
ENST00000372228.9:c.2150G>T
|
ENSP00000361302.3:p.Arg717Leu
|
|
|
ENST00000402686.8:c.2084G>T
MANE Select
|
ENSP00000385797.4:p.Arg695Leu
|
|
|
ENST00000676640.1:c.2084G>T
|
ENSP00000503281.1:p.Arg695Leu
|
|
|
ENST00000676803.1:c.1145G>T
|
ENSP00000503093.1:p.Arg382Leu
|
|
|
ENST00000676835.1:c.*1299G>T
|
ENSP00000502911.1:n.*1299G>T
|
|
|
ENST00000677029.1:c.1628G>T
|
ENSP00000502936.1:p.Arg543Leu
|
|
|
ENST00000677099.1:c.*1794G>T
|
ENSP00000504553.1:n.*1794G>T
|
|
|
ENST00000677216.1:c.1733G>T
|
ENSP00000503772.1:p.Arg578Leu
|
|
|
ENST00000677221.1:n.1109G>T
|
|
|
|
ENST00000677295.1:c.*1306G>T
|
ENSP00000504346.1:n.*1306G>T
|
|
|
ENST00000677444.1:c.2029G>T
|
|
|
|
ENST00000677586.1:n.1451G>T
|
|
|
|
ENST00000677626.1:c.1733G>T
|
ENSP00000503552.1:p.Arg578Leu
|
|
|
ENST00000677853.1:c.*1092G>T
|
ENSP00000503488.1:n.*1092G>T
|
|
|
ENST00000678264.1:c.*1461G>T
|
ENSP00000503157.1:n.*1461G>T
|
|
|
ENST00000678303.1:c.1994G>T
|
ENSP00000503696.1:p.Arg665Leu
|
|
|
ENST00000678366.1:c.*2333G>T
|
ENSP00000504353.1:n.*2333G>T
|
|
|
ENST00000678546.1:c.*2029G>T
|
ENSP00000503062.1:n.*2029G>T
|
|
|
ENST00000678548.1:c.*2223G>T
|
ENSP00000503934.1:n.*2223G>T
|
|
|
ENST00000678626.1:n.1920G>T
|
|
|
|
ENST00000678739.1:c.*2250G>T
|
ENSP00000503806.1:n.*2250G>T
|
|
|
ENST00000678833.1:c.*1836G>T
|
ENSP00000503893.1:n.*1836G>T
|
|
|
ENST00000679023.1:c.1922G>T
|
ENSP00000503718.1:p.Arg641Leu
|
|
|
ENST00000679076.1:c.1703G>T
|
|
|
|
ENST00000679111.1:c.*840G>T
|
ENSP00000504257.1:n.*840G>T
|
|
|
ENST00000679189.1:c.1733G>T
|
ENSP00000503356.1:p.Arg578Leu
|
|
|
ENST00000341012.11:c.1922G>T
|
ENSP00000343034.7:p.Arg641Leu
|
|
|
ENST00000372220.4:c.947G>T
|
ENSP00000361294.4:p.Arg316Leu
|
|
|
ENST00000372228.7:c.2150G>T
|
ENSP00000361302.3:p.Arg717Leu
|
|
|
ENST00000402686.7:c.2084G>T
|
ENSP00000385797.3:p.Arg695Leu
|
|
|
ENST00000404875.6:c.1733G>T
|
ENSP00000384531.2:p.Arg578Leu
|
|
|
ENST00000423007.5:c.2084G>T
|
ENSP00000404119.1:p.Arg695Leu
|
|
|
ENST00000485278.5:n.2634G>T
|
|
|
|
NM_001077365.1:c.2084G>T
|
NP_001070833.1:p.Arg695Leu
|
|
|
NM_001077366.1:c.1922G>T
|
NP_001070834.1:p.Arg641Leu
|
|
|
NM_001136113.1:c.2084G>T
|
NP_001129585.1:p.Arg695Leu
|
|
|
NM_001136114.1:c.1733G>T
|
NP_001129586.1:p.Arg578Leu
|
|
|
NM_007171.3:c.2150G>T
|
NP_009102.3:p.Arg717Leu
|
|
|
XM_005272156.1:c.2150G>T
|
XP_005272213.1:p.Arg717Leu
|
|
|
XM_005272158.1:c.1988G>T
|
XP_005272215.1:p.Arg663Leu
|
|
|
XM_005272159.1:c.1799G>T
|
XP_005272216.1:p.Arg600Leu
|
|
|
XM_005272162.1:c.953G>T
|
XP_005272219.1:p.Arg318Leu
|
|
|
XM_006716932.1:c.1799G>T
|
XP_006716995.1:p.Arg600Leu
|
|
|
XM_011518140.1:c.2003G>T
|
XP_011516442.1:p.Arg668Leu
|
|
|
XM_011518141.1:c.1937G>T
|
XP_011516443.1:p.Arg646Leu
|
|
|
XM_011518142.1:c.1841G>T
|
XP_011516444.1:p.Arg614Leu
|
|
|
XM_011518143.1:c.1835G>T
|
XP_011516445.1:p.Arg612Leu
|
|
|
XM_011518145.1:c.1694G>T
|
XP_011516447.1:p.Arg565Leu
|
|
|
XM_011518147.1:c.1022G>T
|
XP_011516449.1:p.Arg341Leu
|
|
|
XR_929703.1:n.2326G>T
|
|
|
|
NM_001353193.1:c.2150G>T
|
NP_001340122.1:p.Arg717Leu
|
|
|
NM_001353194.1:c.1922G>T
|
NP_001340123.1:p.Arg641Leu
|
|
|
NM_001353195.1:c.1733G>T
|
NP_001340124.1:p.Arg578Leu
|
|
|
NM_001353196.1:c.1994G>T
|
NP_001340125.1:p.Arg665Leu
|
|
|
NM_001353197.1:c.1988G>T
|
NP_001340126.1:p.Arg663Leu
|
|
|
NM_001353198.1:c.1988G>T
|
NP_001340127.1:p.Arg663Leu
|
|
|
NM_001353199.1:c.1799G>T
|
NP_001340128.1:p.Arg600Leu
|
|
|
NM_001353200.1:c.1628G>T
|
NP_001340129.1:p.Arg543Leu
|
|
|
NR_148391.1:n.2134G>T
|
|
|
|
NR_148392.1:n.2352G>T
|
|
|
|
NR_148393.1:n.2273G>T
|
|
|
|
NR_148394.1:n.2027G>T
|
|
|
|
NR_148395.1:n.2425G>T
|
|
|
|
NR_148396.1:n.2059G>T
|
|
|
|
NR_148397.1:n.2184G>T
|
|
|
|
NR_148398.1:n.2139G>T
|
|
|
|
NR_148399.1:n.2665G>T
|
|
|
|
NR_148400.1:n.2264G>T
|
|
|
|
XM_005272162.3:c.953G>T
|
XP_005272219.1:p.Arg318Leu
|
|
|
XM_006716932.2:c.1799G>T
|
XP_006716995.1:p.Arg600Leu
|
|
|
XM_011518140.2:c.2003G>T
|
XP_011516442.1:p.Arg668Leu
|
|
|
XM_011518141.2:c.1937G>T
|
XP_011516443.1:p.Arg646Leu
|
|
|
XM_011518142.2:c.1841G>T
|
XP_011516444.1:p.Arg614Leu
|
|
|
XM_011518143.2:c.1835G>T
|
XP_011516445.1:p.Arg612Leu
|
|
|
XM_011518145.2:c.1694G>T
|
XP_011516447.1:p.Arg565Leu
|
|
|
XM_017014205.2:c.953G>T
|
XP_016869694.1:p.Arg318Leu
|
|
|
XM_024447380.1:c.953G>T
|
XP_024303148.1:p.Arg318Leu
|
|
|
XM_024447381.1:c.1259G>T
|
XP_024303149.1:p.Arg420Leu
|
|
|
XM_024447382.1:c.953G>T
|
XP_024303150.1:p.Arg318Leu
|
|
|
XR_001746160.2:n.2254G>T
|
|
|
|
XR_001746162.2:n.2459G>T
|
|
|
|
XR_001746164.1:n.2176G>T
|
|
|
|
XR_001746166.2:n.2471G>T
|
|
|
|
NM_001077365.2:c.2084G>T
MANE Select
|
NP_001070833.1:p.Arg695Leu
|
|
|
NM_001077366.2:c.1922G>T
|
NP_001070834.1:p.Arg641Leu
|
|
|
NM_001136113.2:c.2084G>T
|
NP_001129585.1:p.Arg695Leu
|
|
|
NM_001136114.2:c.1733G>T
|
NP_001129586.1:p.Arg578Leu
|
|
|
NM_001353193.2:c.2150G>T
|
NP_001340122.2:p.Arg717Leu
|
|
|
NM_001353194.2:c.1922G>T
|
NP_001340123.1:p.Arg641Leu
|
|
|
NM_001353195.2:c.1733G>T
|
NP_001340124.1:p.Arg578Leu
|
|
|
NM_001353196.2:c.1994G>T
|
NP_001340125.1:p.Arg665Leu
|
|
|
NM_001353197.2:c.1988G>T
|
NP_001340126.2:p.Arg663Leu
|
|
|
NM_001353198.2:c.1988G>T
|
NP_001340127.2:p.Arg663Leu
|
|
|
NM_001353199.2:c.1799G>T
|
NP_001340128.2:p.Arg600Leu
|
|
|
NM_001353200.2:c.1628G>T
|
NP_001340129.1:p.Arg543Leu
|
|
|
NM_001374689.1:c.2072G>T
|
NP_001361618.1:p.Arg691Leu
|
|
|
NM_001374690.1:c.1865G>T
|
NP_001361619.1:p.Arg622Leu
|
|
|
NM_001374691.1:c.1733G>T
|
NP_001361620.1:p.Arg578Leu
|
|
|
NM_001374692.1:c.1733G>T
|
NP_001361621.1:p.Arg578Leu
|
|
|
NM_001374693.1:c.1733G>T
|
NP_001361622.1:p.Arg578Leu
|
|
|
NM_001374695.1:c.1694G>T
|
NP_001361624.1:p.Arg565Leu
|
|
|
NM_007171.4:c.2150G>T
|
NP_009102.4:p.Arg717Leu
|
|
|
NR_148391.2:n.2118G>T
|
|
|
|
NR_148392.2:n.2336G>T
|
|
|
|
NR_148393.2:n.2257G>T
|
|
|
|
NR_148394.2:n.2011G>T
|
|
|
|
NR_148395.2:n.2409G>T
|
|
|
|
NR_148396.2:n.2043G>T
|
|
|
|
NR_148397.2:n.2168G>T
|
|
|
|
NR_148398.2:n.2123G>T
|
|
|
|
NR_148399.2:n.2649G>T
|
|
|
|
NR_148400.2:n.2248G>T
|
|
|
