|
ENST00000341012.13:c.1661A>T
|
ENSP00000343034.7:p.Gln554Leu
|
|
|
ENST00000404875.7:n.2363A>T
|
|
|
|
ENST00000423007.6:c.1880A>T
|
ENSP00000404119.2:p.Gln627Leu
|
|
|
ENST00000677295.2:c.*2167A>T
|
ENSP00000504346.2:n.*2167A>T
|
|
|
ENST00000678264.2:c.*2006A>T
|
ENSP00000503157.2:n.*2006A>T
|
|
|
ENST00000682070.1:n.2288A>T
|
|
|
|
ENST00000682813.1:n.2227A>T
|
|
|
|
ENST00000683392.1:n.4570A>T
|
|
|
|
ENST00000683712.1:n.2228A>T
|
|
|
|
ENST00000683900.1:n.3723A>T
|
|
|
|
ENST00000684062.1:n.2489A>T
|
|
|
|
ENST00000684579.1:n.3669A>T
|
|
|
|
ENST00000684679.1:n.1050A>T
|
|
|
|
ENST00000341012.12:c.1661A>T
|
ENSP00000343034.7:p.Gln554Leu
|
|
|
ENST00000372220.5:c.692A>T
|
ENSP00000361294.5:p.Gln231Leu
|
|
|
ENST00000372228.9:c.1889A>T
|
ENSP00000361302.3:p.Gln630Leu
|
|
|
ENST00000402686.8:c.1823A>T
MANE Select
|
ENSP00000385797.4:p.Gln608Leu
|
|
|
ENST00000676640.1:c.1823A>T
|
ENSP00000503281.1:p.Gln608Leu
|
|
|
ENST00000676803.1:c.884A>T
|
ENSP00000503093.1:p.Gln295Leu
|
|
|
ENST00000676835.1:c.*1038A>T
|
ENSP00000502911.1:n.*1038A>T
|
|
|
ENST00000677029.1:c.1367A>T
|
ENSP00000502936.1:p.Gln456Leu
|
|
|
ENST00000677099.1:c.*1533A>T
|
ENSP00000504553.1:n.*1533A>T
|
|
|
ENST00000677216.1:c.1472A>T
|
ENSP00000503772.1:p.Gln491Leu
|
|
|
ENST00000677221.1:n.848A>T
|
|
|
|
ENST00000677295.1:c.*1200A>T
|
ENSP00000504346.1:n.*1200A>T
|
|
|
ENST00000677444.1:c.1768A>T
|
|
|
|
ENST00000677586.1:n.1190A>T
|
|
|
|
ENST00000677626.1:c.1472A>T
|
ENSP00000503552.1:p.Gln491Leu
|
|
|
ENST00000677853.1:c.*831A>T
|
ENSP00000503488.1:n.*831A>T
|
|
|
ENST00000678202.1:n.982A>T
|
|
|
|
ENST00000678264.1:c.*1200A>T
|
ENSP00000503157.1:n.*1200A>T
|
|
|
ENST00000678303.1:c.1733A>T
|
ENSP00000503696.1:p.Gln578Leu
|
|
|
ENST00000678366.1:c.*2072A>T
|
ENSP00000504353.1:n.*2072A>T
|
|
|
ENST00000678546.1:c.*1768A>T
|
ENSP00000503062.1:n.*1768A>T
|
|
|
ENST00000678548.1:c.*1895A>T
|
ENSP00000503934.1:n.*1895A>T
|
|
|
ENST00000678626.1:n.1659A>T
|
|
|
|
ENST00000678739.1:c.*2144A>T
|
ENSP00000503806.1:n.*2144A>T
|
|
|
ENST00000678833.1:c.*1575A>T
|
ENSP00000503893.1:n.*1575A>T
|
|
|
ENST00000679023.1:c.1661A>T
|
ENSP00000503718.1:p.Gln554Leu
|
|
|
ENST00000679076.1:c.1442A>T
|
|
|
|
ENST00000679111.1:c.*579A>T
|
ENSP00000504257.1:n.*579A>T
|
|
|
ENST00000679189.1:c.1472A>T
|
ENSP00000503356.1:p.Gln491Leu
|
|
|
ENST00000341012.11:c.1661A>T
|
ENSP00000343034.7:p.Gln554Leu
|
|
|
ENST00000372220.4:c.686A>T
|
ENSP00000361294.4:p.Gln229Leu
|
|
|
ENST00000372228.7:c.1889A>T
|
ENSP00000361302.3:p.Gln630Leu
|
|
|
ENST00000402686.7:c.1823A>T
|
ENSP00000385797.3:p.Gln608Leu
|
|
|
ENST00000404875.6:c.1472A>T
|
ENSP00000384531.2:p.Gln491Leu
|
|
|
ENST00000423007.5:c.1823A>T
|
ENSP00000404119.1:p.Gln608Leu
|
|
|
ENST00000485278.5:n.2373A>T
|
|
|
|
ENST00000494883.1:n.366A>T
|
|
|
|
NM_001077365.1:c.1823A>T
|
NP_001070833.1:p.Gln608Leu
|
|
|
NM_001077366.1:c.1661A>T
|
NP_001070834.1:p.Gln554Leu
|
|
|
NM_001136113.1:c.1823A>T
|
NP_001129585.1:p.Gln608Leu
|
|
|
NM_001136114.1:c.1472A>T
|
NP_001129586.1:p.Gln491Leu
|
|
|
NM_007171.3:c.1889A>T
|
NP_009102.3:p.Gln630Leu
|
|
|
XM_005272156.1:c.1889A>T
|
XP_005272213.1:p.Gln630Leu
|
|
|
XM_005272158.1:c.1727A>T
|
XP_005272215.1:p.Gln576Leu
|
|
|
XM_005272159.1:c.1538A>T
|
XP_005272216.1:p.Gln513Leu
|
|
|
XM_005272162.1:c.692A>T
|
XP_005272219.1:p.Gln231Leu
|
|
|
XM_006716932.1:c.1538A>T
|
XP_006716995.1:p.Gln513Leu
|
|
|
XM_011518140.1:c.1742A>T
|
XP_011516442.1:p.Gln581Leu
|
|
|
XM_011518141.1:c.1676A>T
|
XP_011516443.1:p.Gln559Leu
|
|
|
XM_011518142.1:c.1580A>T
|
XP_011516444.1:p.Gln527Leu
|
|
|
XM_011518143.1:c.1574A>T
|
XP_011516445.1:p.Gln525Leu
|
|
|
XM_011518145.1:c.1433A>T
|
XP_011516447.1:p.Gln478Leu
|
|
|
XM_011518147.1:c.761A>T
|
XP_011516449.1:p.Gln254Leu
|
|
|
XR_929703.1:n.2065A>T
|
|
|
|
NM_001353193.1:c.1889A>T
|
NP_001340122.1:p.Gln630Leu
|
|
|
NM_001353194.1:c.1661A>T
|
NP_001340123.1:p.Gln554Leu
|
|
|
NM_001353195.1:c.1472A>T
|
NP_001340124.1:p.Gln491Leu
|
|
|
NM_001353196.1:c.1733A>T
|
NP_001340125.1:p.Gln578Leu
|
|
|
NM_001353197.1:c.1727A>T
|
NP_001340126.1:p.Gln576Leu
|
|
|
NM_001353198.1:c.1727A>T
|
NP_001340127.1:p.Gln576Leu
|
|
|
NM_001353199.1:c.1538A>T
|
NP_001340128.1:p.Gln513Leu
|
|
|
NM_001353200.1:c.1367A>T
|
NP_001340129.1:p.Gln456Leu
|
|
|
NR_148391.1:n.1873A>T
|
|
|
|
NR_148392.1:n.2091A>T
|
|
|
|
NR_148393.1:n.2012A>T
|
|
|
|
NR_148394.1:n.1766A>T
|
|
|
|
NR_148395.1:n.2164A>T
|
|
|
|
NR_148396.1:n.1798A>T
|
|
|
|
NR_148397.1:n.1923A>T
|
|
|
|
NR_148398.1:n.1878A>T
|
|
|
|
NR_148399.1:n.2404A>T
|
|
|
|
NR_148400.1:n.2003A>T
|
|
|
|
XM_005272162.3:c.692A>T
|
XP_005272219.1:p.Gln231Leu
|
|
|
XM_006716932.2:c.1538A>T
|
XP_006716995.1:p.Gln513Leu
|
|
|
XM_011518140.2:c.1742A>T
|
XP_011516442.1:p.Gln581Leu
|
|
|
XM_011518141.2:c.1676A>T
|
XP_011516443.1:p.Gln559Leu
|
|
|
XM_011518142.2:c.1580A>T
|
XP_011516444.1:p.Gln527Leu
|
|
|
XM_011518143.2:c.1574A>T
|
XP_011516445.1:p.Gln525Leu
|
|
|
XM_011518145.2:c.1433A>T
|
XP_011516447.1:p.Gln478Leu
|
|
|
XM_017014205.2:c.692A>T
|
XP_016869694.1:p.Gln231Leu
|
|
|
XM_024447380.1:c.692A>T
|
XP_024303148.1:p.Gln231Leu
|
|
|
XM_024447381.1:c.998A>T
|
XP_024303149.1:p.Gln333Leu
|
|
|
XM_024447382.1:c.692A>T
|
XP_024303150.1:p.Gln231Leu
|
|
|
XR_001746160.2:n.1993A>T
|
|
|
|
XR_001746162.2:n.2198A>T
|
|
|
|
XR_001746164.1:n.1915A>T
|
|
|
|
XR_001746166.2:n.2210A>T
|
|
|
|
NM_001077365.2:c.1823A>T
MANE Select
|
NP_001070833.1:p.Gln608Leu
|
|
|
NM_001077366.2:c.1661A>T
|
NP_001070834.1:p.Gln554Leu
|
|
|
NM_001136113.2:c.1823A>T
|
NP_001129585.1:p.Gln608Leu
|
|
|
NM_001136114.2:c.1472A>T
|
NP_001129586.1:p.Gln491Leu
|
|
|
NM_001353193.2:c.1889A>T
|
NP_001340122.2:p.Gln630Leu
|
|
|
NM_001353194.2:c.1661A>T
|
NP_001340123.1:p.Gln554Leu
|
|
|
NM_001353195.2:c.1472A>T
|
NP_001340124.1:p.Gln491Leu
|
|
|
NM_001353196.2:c.1733A>T
|
NP_001340125.1:p.Gln578Leu
|
|
|
NM_001353197.2:c.1727A>T
|
NP_001340126.2:p.Gln576Leu
|
|
|
NM_001353198.2:c.1727A>T
|
NP_001340127.2:p.Gln576Leu
|
|
|
NM_001353199.2:c.1538A>T
|
NP_001340128.2:p.Gln513Leu
|
|
|
NM_001353200.2:c.1367A>T
|
NP_001340129.1:p.Gln456Leu
|
|
|
NM_001374689.1:c.1811A>T
|
NP_001361618.1:p.Gln604Leu
|
|
|
NM_001374690.1:c.1604A>T
|
NP_001361619.1:p.Gln535Leu
|
|
|
NM_001374691.1:c.1472A>T
|
NP_001361620.1:p.Gln491Leu
|
|
|
NM_001374692.1:c.1472A>T
|
NP_001361621.1:p.Gln491Leu
|
|
|
NM_001374693.1:c.1472A>T
|
NP_001361622.1:p.Gln491Leu
|
|
|
NM_001374695.1:c.1433A>T
|
NP_001361624.1:p.Gln478Leu
|
|
|
NM_007171.4:c.1889A>T
|
NP_009102.4:p.Gln630Leu
|
|
|
NR_148391.2:n.1857A>T
|
|
|
|
NR_148392.2:n.2075A>T
|
|
|
|
NR_148393.2:n.1996A>T
|
|
|
|
NR_148394.2:n.1750A>T
|
|
|
|
NR_148395.2:n.2148A>T
|
|
|
|
NR_148396.2:n.1782A>T
|
|
|
|
NR_148397.2:n.1907A>T
|
|
|
|
NR_148398.2:n.1862A>T
|
|
|
|
NR_148399.2:n.2388A>T
|
|
|
|
NR_148400.2:n.1987A>T
|
|
|
