|
ENST00000341012.13:c.1631G>T
|
ENSP00000343034.7:p.Arg544Leu
|
|
|
ENST00000404875.7:n.2333G>T
|
|
|
|
ENST00000423007.6:c.1850G>T
|
ENSP00000404119.2:p.Arg617Leu
|
|
|
ENST00000677295.2:c.*2137G>T
|
ENSP00000504346.2:n.*2137G>T
|
|
|
ENST00000678264.2:c.*1976G>T
|
ENSP00000503157.2:n.*1976G>T
|
|
|
ENST00000682070.1:n.2258G>T
|
|
|
|
ENST00000682813.1:n.2197G>T
|
|
|
|
ENST00000683392.1:n.4540G>T
|
|
|
|
ENST00000683712.1:n.2198G>T
|
|
|
|
ENST00000683900.1:n.3693G>T
|
|
|
|
ENST00000684062.1:n.2459G>T
|
|
|
|
ENST00000684579.1:n.3639G>T
|
|
|
|
ENST00000684679.1:n.1020G>T
|
|
|
|
ENST00000341012.12:c.1631G>T
|
ENSP00000343034.7:p.Arg544Leu
|
|
|
ENST00000372220.5:c.662G>T
|
ENSP00000361294.5:p.Arg221Leu
|
|
|
ENST00000372228.9:c.1859G>T
|
ENSP00000361302.3:p.Arg620Leu
|
|
|
ENST00000402686.8:c.1793G>T
MANE Select
|
ENSP00000385797.4:p.Arg598Leu
|
|
|
ENST00000676640.1:c.1793G>T
|
ENSP00000503281.1:p.Arg598Leu
|
|
|
ENST00000676803.1:c.854G>T
|
ENSP00000503093.1:p.Arg285Leu
|
|
|
ENST00000676835.1:c.*1008G>T
|
ENSP00000502911.1:n.*1008G>T
|
|
|
ENST00000677029.1:c.1337G>T
|
ENSP00000502936.1:p.Arg446Leu
|
|
|
ENST00000677099.1:c.*1503G>T
|
ENSP00000504553.1:n.*1503G>T
|
|
|
ENST00000677216.1:c.1442G>T
|
ENSP00000503772.1:p.Arg481Leu
|
|
|
ENST00000677221.1:n.818G>T
|
|
|
|
ENST00000677295.1:c.*1170G>T
|
ENSP00000504346.1:n.*1170G>T
|
|
|
ENST00000677444.1:c.1738G>T
|
|
|
|
ENST00000677586.1:n.1160G>T
|
|
|
|
ENST00000677626.1:c.1442G>T
|
ENSP00000503552.1:p.Arg481Leu
|
|
|
ENST00000677853.1:c.*801G>T
|
ENSP00000503488.1:n.*801G>T
|
|
|
ENST00000678202.1:n.952G>T
|
|
|
|
ENST00000678264.1:c.*1170G>T
|
ENSP00000503157.1:n.*1170G>T
|
|
|
ENST00000678303.1:c.1703G>T
|
ENSP00000503696.1:p.Arg568Leu
|
|
|
ENST00000678366.1:c.*2042G>T
|
ENSP00000504353.1:n.*2042G>T
|
|
|
ENST00000678546.1:c.*1738G>T
|
ENSP00000503062.1:n.*1738G>T
|
|
|
ENST00000678548.1:c.*1865G>T
|
ENSP00000503934.1:n.*1865G>T
|
|
|
ENST00000678626.1:n.1629G>T
|
|
|
|
ENST00000678739.1:c.*2114G>T
|
ENSP00000503806.1:n.*2114G>T
|
|
|
ENST00000678833.1:c.*1545G>T
|
ENSP00000503893.1:n.*1545G>T
|
|
|
ENST00000679023.1:c.1631G>T
|
ENSP00000503718.1:p.Arg544Leu
|
|
|
ENST00000679076.1:c.1412G>T
|
|
|
|
ENST00000679111.1:c.*549G>T
|
ENSP00000504257.1:n.*549G>T
|
|
|
ENST00000679189.1:c.1442G>T
|
ENSP00000503356.1:p.Arg481Leu
|
|
|
ENST00000341012.11:c.1631G>T
|
ENSP00000343034.7:p.Arg544Leu
|
|
|
ENST00000372220.4:c.656G>T
|
ENSP00000361294.4:p.Arg219Leu
|
|
|
ENST00000372228.7:c.1859G>T
|
ENSP00000361302.3:p.Arg620Leu
|
|
|
ENST00000402686.7:c.1793G>T
|
ENSP00000385797.3:p.Arg598Leu
|
|
|
ENST00000404875.6:c.1442G>T
|
ENSP00000384531.2:p.Arg481Leu
|
|
|
ENST00000423007.5:c.1793G>T
|
ENSP00000404119.1:p.Arg598Leu
|
|
|
ENST00000485278.5:n.2343G>T
|
|
|
|
ENST00000494883.1:n.336G>T
|
|
|
|
NM_001077365.1:c.1793G>T
|
NP_001070833.1:p.Arg598Leu
|
|
|
NM_001077366.1:c.1631G>T
|
NP_001070834.1:p.Arg544Leu
|
|
|
NM_001136113.1:c.1793G>T
|
NP_001129585.1:p.Arg598Leu
|
|
|
NM_001136114.1:c.1442G>T
|
NP_001129586.1:p.Arg481Leu
|
|
|
NM_007171.3:c.1859G>T
|
NP_009102.3:p.Arg620Leu
|
|
|
XM_005272156.1:c.1859G>T
|
XP_005272213.1:p.Arg620Leu
|
|
|
XM_005272158.1:c.1697G>T
|
XP_005272215.1:p.Arg566Leu
|
|
|
XM_005272159.1:c.1508G>T
|
XP_005272216.1:p.Arg503Leu
|
|
|
XM_005272162.1:c.662G>T
|
XP_005272219.1:p.Arg221Leu
|
|
|
XM_006716932.1:c.1508G>T
|
XP_006716995.1:p.Arg503Leu
|
|
|
XM_011518140.1:c.1712G>T
|
XP_011516442.1:p.Arg571Leu
|
|
|
XM_011518141.1:c.1646G>T
|
XP_011516443.1:p.Arg549Leu
|
|
|
XM_011518142.1:c.1550G>T
|
XP_011516444.1:p.Arg517Leu
|
|
|
XM_011518143.1:c.1544G>T
|
XP_011516445.1:p.Arg515Leu
|
|
|
XM_011518145.1:c.1403G>T
|
XP_011516447.1:p.Arg468Leu
|
|
|
XM_011518147.1:c.731G>T
|
XP_011516449.1:p.Arg244Leu
|
|
|
XR_929703.1:n.2035G>T
|
|
|
|
NM_001353193.1:c.1859G>T
|
NP_001340122.1:p.Arg620Leu
|
|
|
NM_001353194.1:c.1631G>T
|
NP_001340123.1:p.Arg544Leu
|
|
|
NM_001353195.1:c.1442G>T
|
NP_001340124.1:p.Arg481Leu
|
|
|
NM_001353196.1:c.1703G>T
|
NP_001340125.1:p.Arg568Leu
|
|
|
NM_001353197.1:c.1697G>T
|
NP_001340126.1:p.Arg566Leu
|
|
|
NM_001353198.1:c.1697G>T
|
NP_001340127.1:p.Arg566Leu
|
|
|
NM_001353199.1:c.1508G>T
|
NP_001340128.1:p.Arg503Leu
|
|
|
NM_001353200.1:c.1337G>T
|
NP_001340129.1:p.Arg446Leu
|
|
|
NR_148391.1:n.1843G>T
|
|
|
|
NR_148392.1:n.2061G>T
|
|
|
|
NR_148393.1:n.1982G>T
|
|
|
|
NR_148394.1:n.1736G>T
|
|
|
|
NR_148395.1:n.2134G>T
|
|
|
|
NR_148396.1:n.1768G>T
|
|
|
|
NR_148397.1:n.1893G>T
|
|
|
|
NR_148398.1:n.1848G>T
|
|
|
|
NR_148399.1:n.2374G>T
|
|
|
|
NR_148400.1:n.1973G>T
|
|
|
|
XM_005272162.3:c.662G>T
|
XP_005272219.1:p.Arg221Leu
|
|
|
XM_006716932.2:c.1508G>T
|
XP_006716995.1:p.Arg503Leu
|
|
|
XM_011518140.2:c.1712G>T
|
XP_011516442.1:p.Arg571Leu
|
|
|
XM_011518141.2:c.1646G>T
|
XP_011516443.1:p.Arg549Leu
|
|
|
XM_011518142.2:c.1550G>T
|
XP_011516444.1:p.Arg517Leu
|
|
|
XM_011518143.2:c.1544G>T
|
XP_011516445.1:p.Arg515Leu
|
|
|
XM_011518145.2:c.1403G>T
|
XP_011516447.1:p.Arg468Leu
|
|
|
XM_017014205.2:c.662G>T
|
XP_016869694.1:p.Arg221Leu
|
|
|
XM_024447380.1:c.662G>T
|
XP_024303148.1:p.Arg221Leu
|
|
|
XM_024447381.1:c.968G>T
|
XP_024303149.1:p.Arg323Leu
|
|
|
XM_024447382.1:c.662G>T
|
XP_024303150.1:p.Arg221Leu
|
|
|
XR_001746160.2:n.1963G>T
|
|
|
|
XR_001746162.2:n.2168G>T
|
|
|
|
XR_001746164.1:n.1885G>T
|
|
|
|
XR_001746166.2:n.2180G>T
|
|
|
|
NM_001077365.2:c.1793G>T
MANE Select
|
NP_001070833.1:p.Arg598Leu
|
|
|
NM_001077366.2:c.1631G>T
|
NP_001070834.1:p.Arg544Leu
|
|
|
NM_001136113.2:c.1793G>T
|
NP_001129585.1:p.Arg598Leu
|
|
|
NM_001136114.2:c.1442G>T
|
NP_001129586.1:p.Arg481Leu
|
|
|
NM_001353193.2:c.1859G>T
|
NP_001340122.2:p.Arg620Leu
|
|
|
NM_001353194.2:c.1631G>T
|
NP_001340123.1:p.Arg544Leu
|
|
|
NM_001353195.2:c.1442G>T
|
NP_001340124.1:p.Arg481Leu
|
|
|
NM_001353196.2:c.1703G>T
|
NP_001340125.1:p.Arg568Leu
|
|
|
NM_001353197.2:c.1697G>T
|
NP_001340126.2:p.Arg566Leu
|
|
|
NM_001353198.2:c.1697G>T
|
NP_001340127.2:p.Arg566Leu
|
|
|
NM_001353199.2:c.1508G>T
|
NP_001340128.2:p.Arg503Leu
|
|
|
NM_001353200.2:c.1337G>T
|
NP_001340129.1:p.Arg446Leu
|
|
|
NM_001374689.1:c.1781G>T
|
NP_001361618.1:p.Arg594Leu
|
|
|
NM_001374690.1:c.1574G>T
|
NP_001361619.1:p.Arg525Leu
|
|
|
NM_001374691.1:c.1442G>T
|
NP_001361620.1:p.Arg481Leu
|
|
|
NM_001374692.1:c.1442G>T
|
NP_001361621.1:p.Arg481Leu
|
|
|
NM_001374693.1:c.1442G>T
|
NP_001361622.1:p.Arg481Leu
|
|
|
NM_001374695.1:c.1403G>T
|
NP_001361624.1:p.Arg468Leu
|
|
|
NM_007171.4:c.1859G>T
|
NP_009102.4:p.Arg620Leu
|
|
|
NR_148391.2:n.1827G>T
|
|
|
|
NR_148392.2:n.2045G>T
|
|
|
|
NR_148393.2:n.1966G>T
|
|
|
|
NR_148394.2:n.1720G>T
|
|
|
|
NR_148395.2:n.2118G>T
|
|
|
|
NR_148396.2:n.1752G>T
|
|
|
|
NR_148397.2:n.1877G>T
|
|
|
|
NR_148398.2:n.1832G>T
|
|
|
|
NR_148399.2:n.2358G>T
|
|
|
|
NR_148400.2:n.1957G>T
|
|
|
