|
ENST00000341012.13:c.1567A>T
|
ENSP00000343034.7:p.Ile523Phe
|
|
|
ENST00000404875.7:n.2269A>T
|
|
|
|
ENST00000423007.6:c.1786A>T
|
ENSP00000404119.2:p.Ile596Phe
|
|
|
ENST00000677295.2:c.*2073A>T
|
ENSP00000504346.2:n.*2073A>T
|
|
|
ENST00000678264.2:c.*1912A>T
|
ENSP00000503157.2:n.*1912A>T
|
|
|
ENST00000682070.1:n.2194A>T
|
|
|
|
ENST00000682813.1:n.2133A>T
|
|
|
|
ENST00000683392.1:n.4476A>T
|
|
|
|
ENST00000683712.1:n.2134A>T
|
|
|
|
ENST00000683900.1:n.3629A>T
|
|
|
|
ENST00000684062.1:n.2395A>T
|
|
|
|
ENST00000684579.1:n.3575A>T
|
|
|
|
ENST00000684679.1:n.956A>T
|
|
|
|
ENST00000341012.12:c.1567A>T
|
ENSP00000343034.7:p.Ile523Phe
|
|
|
ENST00000372220.5:c.598A>T
|
ENSP00000361294.5:p.Ile200Phe
|
|
|
ENST00000372228.9:c.1795A>T
|
ENSP00000361302.3:p.Ile599Phe
|
|
|
ENST00000402686.8:c.1729A>T
MANE Select
|
ENSP00000385797.4:p.Ile577Phe
|
|
|
ENST00000676640.1:c.1729A>T
|
ENSP00000503281.1:p.Ile577Phe
|
|
|
ENST00000676803.1:c.790A>T
|
ENSP00000503093.1:p.Ile264Phe
|
|
|
ENST00000676835.1:c.*944A>T
|
ENSP00000502911.1:n.*944A>T
|
|
|
ENST00000677029.1:c.1273A>T
|
ENSP00000502936.1:p.Ile425Phe
|
|
|
ENST00000677099.1:c.*1439A>T
|
ENSP00000504553.1:n.*1439A>T
|
|
|
ENST00000677216.1:c.1378A>T
|
ENSP00000503772.1:p.Ile460Phe
|
|
|
ENST00000677221.1:n.754A>T
|
|
|
|
ENST00000677295.1:c.*1106A>T
|
ENSP00000504346.1:n.*1106A>T
|
|
|
ENST00000677444.1:c.1674A>T
|
|
|
|
ENST00000677586.1:n.1096A>T
|
|
|
|
ENST00000677626.1:c.1378A>T
|
ENSP00000503552.1:p.Ile460Phe
|
|
|
ENST00000677853.1:c.*737A>T
|
ENSP00000503488.1:n.*737A>T
|
|
|
ENST00000678202.1:n.888A>T
|
|
|
|
ENST00000678264.1:c.*1106A>T
|
ENSP00000503157.1:n.*1106A>T
|
|
|
ENST00000678303.1:c.1639A>T
|
ENSP00000503696.1:p.Ile547Phe
|
|
|
ENST00000678366.1:c.*1978A>T
|
ENSP00000504353.1:n.*1978A>T
|
|
|
ENST00000678546.1:c.*1674A>T
|
ENSP00000503062.1:n.*1674A>T
|
|
|
ENST00000678548.1:c.*1801A>T
|
ENSP00000503934.1:n.*1801A>T
|
|
|
ENST00000678626.1:n.1565A>T
|
|
|
|
ENST00000678739.1:c.*2050A>T
|
ENSP00000503806.1:n.*2050A>T
|
|
|
ENST00000678833.1:c.*1481A>T
|
ENSP00000503893.1:n.*1481A>T
|
|
|
ENST00000679023.1:c.1567A>T
|
ENSP00000503718.1:p.Ile523Phe
|
|
|
ENST00000679076.1:c.1348A>T
|
|
|
|
ENST00000679111.1:c.*485A>T
|
ENSP00000504257.1:n.*485A>T
|
|
|
ENST00000679189.1:c.1378A>T
|
ENSP00000503356.1:p.Ile460Phe
|
|
|
ENST00000341012.11:c.1567A>T
|
ENSP00000343034.7:p.Ile523Phe
|
|
|
ENST00000372220.4:c.592A>T
|
ENSP00000361294.4:p.Ile198Phe
|
|
|
ENST00000372228.7:c.1795A>T
|
ENSP00000361302.3:p.Ile599Phe
|
|
|
ENST00000402686.7:c.1729A>T
|
ENSP00000385797.3:p.Ile577Phe
|
|
|
ENST00000404875.6:c.1378A>T
|
ENSP00000384531.2:p.Ile460Phe
|
|
|
ENST00000423007.5:c.1729A>T
|
ENSP00000404119.1:p.Ile577Phe
|
|
|
ENST00000467848.1:n.433A>T
|
|
|
|
ENST00000485278.5:n.2279A>T
|
|
|
|
ENST00000494883.1:n.272A>T
|
|
|
|
NM_001077365.1:c.1729A>T
|
NP_001070833.1:p.Ile577Phe
|
|
|
NM_001077366.1:c.1567A>T
|
NP_001070834.1:p.Ile523Phe
|
|
|
NM_001136113.1:c.1729A>T
|
NP_001129585.1:p.Ile577Phe
|
|
|
NM_001136114.1:c.1378A>T
|
NP_001129586.1:p.Ile460Phe
|
|
|
NM_007171.3:c.1795A>T
|
NP_009102.3:p.Ile599Phe
|
|
|
XM_005272156.1:c.1795A>T
|
XP_005272213.1:p.Ile599Phe
|
|
|
XM_005272158.1:c.1633A>T
|
XP_005272215.1:p.Ile545Phe
|
|
|
XM_005272159.1:c.1444A>T
|
XP_005272216.1:p.Ile482Phe
|
|
|
XM_005272162.1:c.598A>T
|
XP_005272219.1:p.Ile200Phe
|
|
|
XM_006716932.1:c.1444A>T
|
XP_006716995.1:p.Ile482Phe
|
|
|
XM_011518140.1:c.1648A>T
|
XP_011516442.1:p.Ile550Phe
|
|
|
XM_011518141.1:c.1582A>T
|
XP_011516443.1:p.Ile528Phe
|
|
|
XM_011518142.1:c.1486A>T
|
XP_011516444.1:p.Ile496Phe
|
|
|
XM_011518143.1:c.1480A>T
|
XP_011516445.1:p.Ile494Phe
|
|
|
XM_011518145.1:c.1339A>T
|
XP_011516447.1:p.Ile447Phe
|
|
|
XM_011518147.1:c.667A>T
|
XP_011516449.1:p.Ile223Phe
|
|
|
XR_929703.1:n.1971A>T
|
|
|
|
NM_001353193.1:c.1795A>T
|
NP_001340122.1:p.Ile599Phe
|
|
|
NM_001353194.1:c.1567A>T
|
NP_001340123.1:p.Ile523Phe
|
|
|
NM_001353195.1:c.1378A>T
|
NP_001340124.1:p.Ile460Phe
|
|
|
NM_001353196.1:c.1639A>T
|
NP_001340125.1:p.Ile547Phe
|
|
|
NM_001353197.1:c.1633A>T
|
NP_001340126.1:p.Ile545Phe
|
|
|
NM_001353198.1:c.1633A>T
|
NP_001340127.1:p.Ile545Phe
|
|
|
NM_001353199.1:c.1444A>T
|
NP_001340128.1:p.Ile482Phe
|
|
|
NM_001353200.1:c.1273A>T
|
NP_001340129.1:p.Ile425Phe
|
|
|
NR_148391.1:n.1779A>T
|
|
|
|
NR_148392.1:n.1997A>T
|
|
|
|
NR_148393.1:n.1918A>T
|
|
|
|
NR_148394.1:n.1672A>T
|
|
|
|
NR_148395.1:n.2070A>T
|
|
|
|
NR_148396.1:n.1704A>T
|
|
|
|
NR_148397.1:n.1829A>T
|
|
|
|
NR_148398.1:n.1784A>T
|
|
|
|
NR_148399.1:n.2310A>T
|
|
|
|
NR_148400.1:n.1909A>T
|
|
|
|
XM_005272162.3:c.598A>T
|
XP_005272219.1:p.Ile200Phe
|
|
|
XM_006716932.2:c.1444A>T
|
XP_006716995.1:p.Ile482Phe
|
|
|
XM_011518140.2:c.1648A>T
|
XP_011516442.1:p.Ile550Phe
|
|
|
XM_011518141.2:c.1582A>T
|
XP_011516443.1:p.Ile528Phe
|
|
|
XM_011518142.2:c.1486A>T
|
XP_011516444.1:p.Ile496Phe
|
|
|
XM_011518143.2:c.1480A>T
|
XP_011516445.1:p.Ile494Phe
|
|
|
XM_011518145.2:c.1339A>T
|
XP_011516447.1:p.Ile447Phe
|
|
|
XM_017014205.2:c.598A>T
|
XP_016869694.1:p.Ile200Phe
|
|
|
XM_024447380.1:c.598A>T
|
XP_024303148.1:p.Ile200Phe
|
|
|
XM_024447381.1:c.904A>T
|
XP_024303149.1:p.Ile302Phe
|
|
|
XM_024447382.1:c.598A>T
|
XP_024303150.1:p.Ile200Phe
|
|
|
XR_001746160.2:n.1899A>T
|
|
|
|
XR_001746162.2:n.2104A>T
|
|
|
|
XR_001746164.1:n.1821A>T
|
|
|
|
XR_001746166.2:n.2116A>T
|
|
|
|
NM_001077365.2:c.1729A>T
MANE Select
|
NP_001070833.1:p.Ile577Phe
|
|
|
NM_001077366.2:c.1567A>T
|
NP_001070834.1:p.Ile523Phe
|
|
|
NM_001136113.2:c.1729A>T
|
NP_001129585.1:p.Ile577Phe
|
|
|
NM_001136114.2:c.1378A>T
|
NP_001129586.1:p.Ile460Phe
|
|
|
NM_001353193.2:c.1795A>T
|
NP_001340122.2:p.Ile599Phe
|
|
|
NM_001353194.2:c.1567A>T
|
NP_001340123.1:p.Ile523Phe
|
|
|
NM_001353195.2:c.1378A>T
|
NP_001340124.1:p.Ile460Phe
|
|
|
NM_001353196.2:c.1639A>T
|
NP_001340125.1:p.Ile547Phe
|
|
|
NM_001353197.2:c.1633A>T
|
NP_001340126.2:p.Ile545Phe
|
|
|
NM_001353198.2:c.1633A>T
|
NP_001340127.2:p.Ile545Phe
|
|
|
NM_001353199.2:c.1444A>T
|
NP_001340128.2:p.Ile482Phe
|
|
|
NM_001353200.2:c.1273A>T
|
NP_001340129.1:p.Ile425Phe
|
|
|
NM_001374689.1:c.1717A>T
|
NP_001361618.1:p.Ile573Phe
|
|
|
NM_001374690.1:c.1510A>T
|
NP_001361619.1:p.Ile504Phe
|
|
|
NM_001374691.1:c.1378A>T
|
NP_001361620.1:p.Ile460Phe
|
|
|
NM_001374692.1:c.1378A>T
|
NP_001361621.1:p.Ile460Phe
|
|
|
NM_001374693.1:c.1378A>T
|
NP_001361622.1:p.Ile460Phe
|
|
|
NM_001374695.1:c.1339A>T
|
NP_001361624.1:p.Ile447Phe
|
|
|
NM_007171.4:c.1795A>T
|
NP_009102.4:p.Ile599Phe
|
|
|
NR_148391.2:n.1763A>T
|
|
|
|
NR_148392.2:n.1981A>T
|
|
|
|
NR_148393.2:n.1902A>T
|
|
|
|
NR_148394.2:n.1656A>T
|
|
|
|
NR_148395.2:n.2054A>T
|
|
|
|
NR_148396.2:n.1688A>T
|
|
|
|
NR_148397.2:n.1813A>T
|
|
|
|
NR_148398.2:n.1768A>T
|
|
|
|
NR_148399.2:n.2294A>T
|
|
|
|
NR_148400.2:n.1893A>T
|
|
|
