|
ENST00000341012.13:c.1200A>T
|
ENSP00000343034.7:p.Leu400Phe
|
|
|
ENST00000404875.7:n.1902A>T
|
|
|
|
ENST00000423007.6:c.1419A>T
|
ENSP00000404119.2:p.Leu473Phe
|
|
|
ENST00000677295.2:c.*1706A>T
|
ENSP00000504346.2:n.*1706A>T
|
|
|
ENST00000678264.2:c.*1545A>T
|
ENSP00000503157.2:n.*1545A>T
|
|
|
ENST00000682070.1:n.1827A>T
|
|
|
|
ENST00000682535.1:n.134A>T
|
|
|
|
ENST00000682539.1:c.300A>T
|
|
|
|
ENST00000682813.1:n.1627A>T
|
|
|
|
ENST00000683110.1:n.90A>T
|
|
|
|
ENST00000683392.1:n.4109A>T
|
|
|
|
ENST00000683712.1:n.1767A>T
|
|
|
|
ENST00000683900.1:n.3262A>T
|
|
|
|
ENST00000684062.1:n.2028A>T
|
|
|
|
ENST00000684579.1:n.3208A>T
|
|
|
|
ENST00000684679.1:n.589A>T
|
|
|
|
ENST00000341012.12:c.1200A>T
|
ENSP00000343034.7:p.Leu400Phe
|
|
|
ENST00000372220.5:c.231A>T
|
ENSP00000361294.5:p.Leu77Phe
|
|
|
ENST00000372228.9:c.1428A>T
|
ENSP00000361302.3:p.Leu476Phe
|
|
|
ENST00000402686.8:c.1362A>T
MANE Select
|
ENSP00000385797.4:p.Leu454Phe
|
|
|
ENST00000676640.1:c.1362A>T
|
ENSP00000503281.1:p.Leu454Phe
|
|
|
ENST00000676803.1:c.537A>T
|
ENSP00000503093.1:p.Leu179Phe
|
|
|
ENST00000676835.1:c.*577A>T
|
ENSP00000502911.1:n.*577A>T
|
|
|
ENST00000677029.1:c.906A>T
|
ENSP00000502936.1:p.Leu302Phe
|
|
|
ENST00000677099.1:c.*1072A>T
|
ENSP00000504553.1:n.*1072A>T
|
|
|
ENST00000677216.1:c.1011A>T
|
ENSP00000503772.1:p.Leu337Phe
|
|
|
ENST00000677221.1:n.387A>T
|
|
|
|
ENST00000677295.1:c.*739A>T
|
ENSP00000504346.1:n.*739A>T
|
|
|
ENST00000677444.1:c.1168A>T
|
|
|
|
ENST00000677586.1:n.843A>T
|
|
|
|
ENST00000677626.1:c.1011A>T
|
ENSP00000503552.1:p.Leu337Phe
|
|
|
ENST00000677677.1:n.1322A>T
|
|
|
|
ENST00000677853.1:c.*370A>T
|
ENSP00000503488.1:n.*370A>T
|
|
|
ENST00000677983.1:n.451A>T
|
|
|
|
ENST00000678202.1:n.382A>T
|
|
|
|
ENST00000678264.1:c.*739A>T
|
ENSP00000503157.1:n.*739A>T
|
|
|
ENST00000678303.1:c.1272A>T
|
ENSP00000503696.1:p.Leu424Phe
|
|
|
ENST00000678366.1:c.*1611A>T
|
ENSP00000504353.1:n.*1611A>T
|
|
|
ENST00000678546.1:c.*1307A>T
|
ENSP00000503062.1:n.*1307A>T
|
|
|
ENST00000678548.1:c.*1434A>T
|
ENSP00000503934.1:n.*1434A>T
|
|
|
ENST00000678626.1:n.1059A>T
|
|
|
|
ENST00000678733.1:c.443A>T
|
|
|
|
ENST00000678739.1:c.*1688A>T
|
ENSP00000503806.1:n.*1688A>T
|
|
|
ENST00000678795.1:n.449A>T
|
|
|
|
ENST00000678833.1:c.*809A>T
|
ENSP00000503893.1:n.*809A>T
|
|
|
ENST00000678942.1:c.542A>T
|
ENSP00000504690.1:n.542A>T
|
|
|
ENST00000679023.1:c.1200A>T
|
ENSP00000503718.1:p.Leu400Phe
|
|
|
ENST00000679076.1:c.981A>T
|
|
|
|
ENST00000679111.1:c.1362A>T
|
ENSP00000504257.1:p.Leu454Phe
|
|
|
ENST00000679189.1:c.1011A>T
|
ENSP00000503356.1:p.Leu337Phe
|
|
|
ENST00000341012.11:c.1200A>T
|
ENSP00000343034.7:p.Leu400Phe
|
|
|
ENST00000372220.4:c.225A>T
|
ENSP00000361294.4:p.Leu75Phe
|
|
|
ENST00000372228.7:c.1428A>T
|
ENSP00000361302.3:p.Leu476Phe
|
|
|
ENST00000402686.7:c.1362A>T
|
ENSP00000385797.3:p.Leu454Phe
|
|
|
ENST00000404875.6:c.1011A>T
|
ENSP00000384531.2:p.Leu337Phe
|
|
|
ENST00000423007.5:c.1362A>T
|
ENSP00000404119.1:p.Leu454Phe
|
|
|
ENST00000485278.5:n.1917A>T
|
|
|
|
NM_001077365.1:c.1362A>T
|
NP_001070833.1:p.Leu454Phe
|
|
|
NM_001077366.1:c.1200A>T
|
NP_001070834.1:p.Leu400Phe
|
|
|
NM_001136113.1:c.1362A>T
|
NP_001129585.1:p.Leu454Phe
|
|
|
NM_001136114.1:c.1011A>T
|
NP_001129586.1:p.Leu337Phe
|
|
|
NM_007171.3:c.1428A>T
|
NP_009102.3:p.Leu476Phe
|
|
|
XM_005272156.1:c.1428A>T
|
XP_005272213.1:p.Leu476Phe
|
|
|
XM_005272158.1:c.1266A>T
|
XP_005272215.1:p.Leu422Phe
|
|
|
XM_005272159.1:c.1077A>T
|
XP_005272216.1:p.Leu359Phe
|
|
|
XM_005272162.1:c.231A>T
|
XP_005272219.1:p.Leu77Phe
|
|
|
XM_006716932.1:c.1077A>T
|
XP_006716995.1:p.Leu359Phe
|
|
|
XM_011518140.1:c.1281A>T
|
XP_011516442.1:p.Leu427Phe
|
|
|
XM_011518141.1:c.1215A>T
|
XP_011516443.1:p.Leu405Phe
|
|
|
XM_011518142.1:c.1119A>T
|
XP_011516444.1:p.Leu373Phe
|
|
|
XM_011518143.1:c.1113A>T
|
XP_011516445.1:p.Leu371Phe
|
|
|
XM_011518144.1:c.1428A>T
|
XP_011516446.1:p.Leu476Phe
|
|
|
XM_011518145.1:c.972A>T
|
XP_011516447.1:p.Leu324Phe
|
|
|
XM_011518146.1:c.1113A>T
|
XP_011516448.1:p.Leu371Phe
|
|
|
XM_011518147.1:c.300A>T
|
XP_011516449.1:p.Leu100Phe
|
|
|
XR_929703.1:n.1604A>T
|
|
|
|
NM_001353193.1:c.1428A>T
|
NP_001340122.1:p.Leu476Phe
|
|
|
NM_001353194.1:c.1200A>T
|
NP_001340123.1:p.Leu400Phe
|
|
|
NM_001353195.1:c.1011A>T
|
NP_001340124.1:p.Leu337Phe
|
|
|
NM_001353196.1:c.1272A>T
|
NP_001340125.1:p.Leu424Phe
|
|
|
NM_001353197.1:c.1266A>T
|
NP_001340126.1:p.Leu422Phe
|
|
|
NM_001353198.1:c.1266A>T
|
NP_001340127.1:p.Leu422Phe
|
|
|
NM_001353199.1:c.1077A>T
|
NP_001340128.1:p.Leu359Phe
|
|
|
NM_001353200.1:c.906A>T
|
NP_001340129.1:p.Leu302Phe
|
|
|
NR_148391.1:n.1412A>T
|
|
|
|
NR_148392.1:n.1630A>T
|
|
|
|
NR_148393.1:n.1412A>T
|
|
|
|
NR_148394.1:n.1305A>T
|
|
|
|
NR_148395.1:n.1564A>T
|
|
|
|
NR_148396.1:n.1198A>T
|
|
|
|
NR_148397.1:n.1462A>T
|
|
|
|
NR_148398.1:n.1417A>T
|
|
|
|
NR_148399.1:n.1804A>T
|
|
|
|
NR_148400.1:n.1403A>T
|
|
|
|
XM_005272162.3:c.231A>T
|
XP_005272219.1:p.Leu77Phe
|
|
|
XM_006716932.2:c.1077A>T
|
XP_006716995.1:p.Leu359Phe
|
|
|
XM_011518140.2:c.1281A>T
|
XP_011516442.1:p.Leu427Phe
|
|
|
XM_011518141.2:c.1215A>T
|
XP_011516443.1:p.Leu405Phe
|
|
|
XM_011518142.2:c.1119A>T
|
XP_011516444.1:p.Leu373Phe
|
|
|
XM_011518143.2:c.1113A>T
|
XP_011516445.1:p.Leu371Phe
|
|
|
XM_011518145.2:c.972A>T
|
XP_011516447.1:p.Leu324Phe
|
|
|
XM_017014205.2:c.231A>T
|
XP_016869694.1:p.Leu77Phe
|
|
|
XM_024447380.1:c.231A>T
|
XP_024303148.1:p.Leu77Phe
|
|
|
XM_024447381.1:c.537A>T
|
XP_024303149.1:p.Leu179Phe
|
|
|
XM_024447382.1:c.231A>T
|
XP_024303150.1:p.Leu77Phe
|
|
|
XR_001746160.2:n.1532A>T
|
|
|
|
XR_001746162.2:n.1598A>T
|
|
|
|
XR_001746164.1:n.1315A>T
|
|
|
|
XR_001746166.2:n.1749A>T
|
|
|
|
NM_001077365.2:c.1362A>T
MANE Select
|
NP_001070833.1:p.Leu454Phe
|
|
|
NM_001077366.2:c.1200A>T
|
NP_001070834.1:p.Leu400Phe
|
|
|
NM_001136113.2:c.1362A>T
|
NP_001129585.1:p.Leu454Phe
|
|
|
NM_001136114.2:c.1011A>T
|
NP_001129586.1:p.Leu337Phe
|
|
|
NM_001353193.2:c.1428A>T
|
NP_001340122.2:p.Leu476Phe
|
|
|
NM_001353194.2:c.1200A>T
|
NP_001340123.1:p.Leu400Phe
|
|
|
NM_001353195.2:c.1011A>T
|
NP_001340124.1:p.Leu337Phe
|
|
|
NM_001353196.2:c.1272A>T
|
NP_001340125.1:p.Leu424Phe
|
|
|
NM_001353197.2:c.1266A>T
|
NP_001340126.2:p.Leu422Phe
|
|
|
NM_001353198.2:c.1266A>T
|
NP_001340127.2:p.Leu422Phe
|
|
|
NM_001353199.2:c.1077A>T
|
NP_001340128.2:p.Leu359Phe
|
|
|
NM_001353200.2:c.906A>T
|
NP_001340129.1:p.Leu302Phe
|
|
|
NM_001374689.1:c.1350A>T
|
NP_001361618.1:p.Leu450Phe
|
|
|
NM_001374690.1:c.1362A>T
|
NP_001361619.1:p.Leu454Phe
|
|
|
NM_001374691.1:c.1011A>T
|
NP_001361620.1:p.Leu337Phe
|
|
|
NM_001374692.1:c.1011A>T
|
NP_001361621.1:p.Leu337Phe
|
|
|
NM_001374693.1:c.1011A>T
|
NP_001361622.1:p.Leu337Phe
|
|
|
NM_001374695.1:c.972A>T
|
NP_001361624.1:p.Leu324Phe
|
|
|
NM_007171.4:c.1428A>T
|
NP_009102.4:p.Leu476Phe
|
|
|
NR_148391.2:n.1396A>T
|
|
|
|
NR_148392.2:n.1614A>T
|
|
|
|
NR_148393.2:n.1396A>T
|
|
|
|
NR_148394.2:n.1289A>T
|
|
|
|
NR_148395.2:n.1548A>T
|
|
|
|
NR_148396.2:n.1182A>T
|
|
|
|
NR_148397.2:n.1446A>T
|
|
|
|
NR_148398.2:n.1401A>T
|
|
|
|
NR_148399.2:n.1788A>T
|
|
|
|
NR_148400.2:n.1387A>T
|
|
|
