|
ENST00000341012.13:c.2002A>T
|
ENSP00000343034.7:p.Ile668Phe
|
|
|
ENST00000404875.7:n.2704A>T
|
|
|
|
ENST00000423007.6:c.2221A>T
|
ENSP00000404119.2:p.Ile741Phe
|
|
|
ENST00000677295.2:c.*2508A>T
|
ENSP00000504346.2:n.*2508A>T
|
|
|
ENST00000678264.2:c.*2347A>T
|
ENSP00000503157.2:n.*2347A>T
|
|
|
ENST00000682070.1:n.2474A>T
|
|
|
|
ENST00000682639.1:c.161A>T
|
|
|
|
ENST00000682813.1:n.2561A>T
|
|
|
|
ENST00000683231.1:c.161A>T
|
|
|
|
ENST00000683392.1:n.4756A>T
|
|
|
|
ENST00000683712.1:n.2569A>T
|
|
|
|
ENST00000683900.1:n.4064A>T
|
|
|
|
ENST00000684062.1:n.2830A>T
|
|
|
|
ENST00000684399.1:c.161A>T
|
|
|
|
ENST00000684579.1:n.4010A>T
|
|
|
|
ENST00000341012.12:c.2002A>T
|
ENSP00000343034.7:p.Ile668Phe
|
|
|
ENST00000372220.5:c.1033A>T
|
ENSP00000361294.5:p.Ile345Phe
|
|
|
ENST00000372228.9:c.2230A>T
|
ENSP00000361302.3:p.Ile744Phe
|
|
|
ENST00000402686.8:c.2164A>T
MANE Select
|
ENSP00000385797.4:p.Ile722Phe
|
|
|
ENST00000676640.1:c.2164A>T
|
ENSP00000503281.1:p.Ile722Phe
|
|
|
ENST00000676803.1:c.1225A>T
|
ENSP00000503093.1:p.Ile409Phe
|
|
|
ENST00000676835.1:c.*1379A>T
|
ENSP00000502911.1:n.*1379A>T
|
|
|
ENST00000677029.1:c.1708A>T
|
ENSP00000502936.1:p.Ile570Phe
|
|
|
ENST00000677099.1:c.*1874A>T
|
ENSP00000504553.1:n.*1874A>T
|
|
|
ENST00000677216.1:c.1813A>T
|
ENSP00000503772.1:p.Ile605Phe
|
|
|
ENST00000677295.1:c.*1386A>T
|
ENSP00000504346.1:n.*1386A>T
|
|
|
ENST00000677444.1:c.2109A>T
|
|
|
|
ENST00000677586.1:n.1531A>T
|
|
|
|
ENST00000677626.1:c.1813A>T
|
ENSP00000503552.1:p.Ile605Phe
|
|
|
ENST00000677853.1:c.*1172A>T
|
ENSP00000503488.1:n.*1172A>T
|
|
|
ENST00000678264.1:c.*1541A>T
|
ENSP00000503157.1:n.*1541A>T
|
|
|
ENST00000678303.1:c.2074A>T
|
ENSP00000503696.1:p.Ile692Phe
|
|
|
ENST00000678366.1:c.*2413A>T
|
ENSP00000504353.1:n.*2413A>T
|
|
|
ENST00000678546.1:c.*2109A>T
|
ENSP00000503062.1:n.*2109A>T
|
|
|
ENST00000678548.1:c.*2303A>T
|
ENSP00000503934.1:n.*2303A>T
|
|
|
ENST00000678626.1:n.2000A>T
|
|
|
|
ENST00000678739.1:c.*2330A>T
|
ENSP00000503806.1:n.*2330A>T
|
|
|
ENST00000678833.1:c.*1916A>T
|
ENSP00000503893.1:n.*1916A>T
|
|
|
ENST00000679023.1:c.2002A>T
|
ENSP00000503718.1:p.Ile668Phe
|
|
|
ENST00000679076.1:c.1783A>T
|
|
|
|
ENST00000679111.1:c.*920A>T
|
ENSP00000504257.1:n.*920A>T
|
|
|
ENST00000679189.1:c.1813A>T
|
ENSP00000503356.1:p.Ile605Phe
|
|
|
ENST00000341012.11:c.2002A>T
|
ENSP00000343034.7:p.Ile668Phe
|
|
|
ENST00000372220.4:c.1027A>T
|
ENSP00000361294.4:p.Ile343Phe
|
|
|
ENST00000372228.7:c.2230A>T
|
ENSP00000361302.3:p.Ile744Phe
|
|
|
ENST00000402686.7:c.2164A>T
|
ENSP00000385797.3:p.Ile722Phe
|
|
|
ENST00000404875.6:c.1813A>T
|
ENSP00000384531.2:p.Ile605Phe
|
|
|
ENST00000423007.5:c.2164A>T
|
ENSP00000404119.1:p.Ile722Phe
|
|
|
ENST00000485278.5:n.2714A>T
|
|
|
|
NM_001077365.1:c.2164A>T
|
NP_001070833.1:p.Ile722Phe
|
|
|
NM_001077366.1:c.2002A>T
|
NP_001070834.1:p.Ile668Phe
|
|
|
NM_001136113.1:c.2164A>T
|
NP_001129585.1:p.Ile722Phe
|
|
|
NM_001136114.1:c.1813A>T
|
NP_001129586.1:p.Ile605Phe
|
|
|
NM_007171.3:c.2230A>T
|
NP_009102.3:p.Ile744Phe
|
|
|
XM_005272156.1:c.2230A>T
|
XP_005272213.1:p.Ile744Phe
|
|
|
XM_005272158.1:c.2068A>T
|
XP_005272215.1:p.Ile690Phe
|
|
|
XM_005272159.1:c.1879A>T
|
XP_005272216.1:p.Ile627Phe
|
|
|
XM_005272162.1:c.1033A>T
|
XP_005272219.1:p.Ile345Phe
|
|
|
XM_006716932.1:c.1879A>T
|
XP_006716995.1:p.Ile627Phe
|
|
|
XM_011518140.1:c.2083A>T
|
XP_011516442.1:p.Ile695Phe
|
|
|
XM_011518141.1:c.2017A>T
|
XP_011516443.1:p.Ile673Phe
|
|
|
XM_011518142.1:c.1921A>T
|
XP_011516444.1:p.Ile641Phe
|
|
|
XM_011518143.1:c.1915A>T
|
XP_011516445.1:p.Ile639Phe
|
|
|
XM_011518145.1:c.1774A>T
|
XP_011516447.1:p.Ile592Phe
|
|
|
XM_011518147.1:c.1102A>T
|
XP_011516449.1:p.Ile368Phe
|
|
|
XR_929703.1:n.2406A>T
|
|
|
|
NM_001353193.1:c.2230A>T
|
NP_001340122.1:p.Ile744Phe
|
|
|
NM_001353194.1:c.2002A>T
|
NP_001340123.1:p.Ile668Phe
|
|
|
NM_001353195.1:c.1813A>T
|
NP_001340124.1:p.Ile605Phe
|
|
|
NM_001353196.1:c.2074A>T
|
NP_001340125.1:p.Ile692Phe
|
|
|
NM_001353197.1:c.2068A>T
|
NP_001340126.1:p.Ile690Phe
|
|
|
NM_001353198.1:c.2068A>T
|
NP_001340127.1:p.Ile690Phe
|
|
|
NM_001353199.1:c.1879A>T
|
NP_001340128.1:p.Ile627Phe
|
|
|
NM_001353200.1:c.1708A>T
|
NP_001340129.1:p.Ile570Phe
|
|
|
NR_148391.1:n.2214A>T
|
|
|
|
NR_148392.1:n.2432A>T
|
|
|
|
NR_148393.1:n.2353A>T
|
|
|
|
NR_148394.1:n.2107A>T
|
|
|
|
NR_148395.1:n.2505A>T
|
|
|
|
NR_148396.1:n.2139A>T
|
|
|
|
NR_148397.1:n.2264A>T
|
|
|
|
NR_148398.1:n.2219A>T
|
|
|
|
NR_148399.1:n.2745A>T
|
|
|
|
NR_148400.1:n.2344A>T
|
|
|
|
XM_005272162.3:c.1033A>T
|
XP_005272219.1:p.Ile345Phe
|
|
|
XM_006716932.2:c.1879A>T
|
XP_006716995.1:p.Ile627Phe
|
|
|
XM_011518140.2:c.2083A>T
|
XP_011516442.1:p.Ile695Phe
|
|
|
XM_011518141.2:c.2017A>T
|
XP_011516443.1:p.Ile673Phe
|
|
|
XM_011518142.2:c.1921A>T
|
XP_011516444.1:p.Ile641Phe
|
|
|
XM_011518143.2:c.1915A>T
|
XP_011516445.1:p.Ile639Phe
|
|
|
XM_011518145.2:c.1774A>T
|
XP_011516447.1:p.Ile592Phe
|
|
|
XM_017014205.2:c.1033A>T
|
XP_016869694.1:p.Ile345Phe
|
|
|
XM_024447380.1:c.1033A>T
|
XP_024303148.1:p.Ile345Phe
|
|
|
XM_024447381.1:c.1339A>T
|
XP_024303149.1:p.Ile447Phe
|
|
|
XM_024447382.1:c.1033A>T
|
XP_024303150.1:p.Ile345Phe
|
|
|
XR_001746160.2:n.2334A>T
|
|
|
|
XR_001746162.2:n.2539A>T
|
|
|
|
XR_001746164.1:n.2256A>T
|
|
|
|
XR_001746166.2:n.2551A>T
|
|
|
|
NM_001077365.2:c.2164A>T
MANE Select
|
NP_001070833.1:p.Ile722Phe
|
|
|
NM_001077366.2:c.2002A>T
|
NP_001070834.1:p.Ile668Phe
|
|
|
NM_001136113.2:c.2164A>T
|
NP_001129585.1:p.Ile722Phe
|
|
|
NM_001136114.2:c.1813A>T
|
NP_001129586.1:p.Ile605Phe
|
|
|
NM_001353193.2:c.2230A>T
|
NP_001340122.2:p.Ile744Phe
|
|
|
NM_001353194.2:c.2002A>T
|
NP_001340123.1:p.Ile668Phe
|
|
|
NM_001353195.2:c.1813A>T
|
NP_001340124.1:p.Ile605Phe
|
|
|
NM_001353196.2:c.2074A>T
|
NP_001340125.1:p.Ile692Phe
|
|
|
NM_001353197.2:c.2068A>T
|
NP_001340126.2:p.Ile690Phe
|
|
|
NM_001353198.2:c.2068A>T
|
NP_001340127.2:p.Ile690Phe
|
|
|
NM_001353199.2:c.1879A>T
|
NP_001340128.2:p.Ile627Phe
|
|
|
NM_001353200.2:c.1708A>T
|
NP_001340129.1:p.Ile570Phe
|
|
|
NM_001374689.1:c.2152A>T
|
NP_001361618.1:p.Ile718Phe
|
|
|
NM_001374690.1:c.1945A>T
|
NP_001361619.1:p.Ile649Phe
|
|
|
NM_001374691.1:c.1813A>T
|
NP_001361620.1:p.Ile605Phe
|
|
|
NM_001374692.1:c.1813A>T
|
NP_001361621.1:p.Ile605Phe
|
|
|
NM_001374693.1:c.1813A>T
|
NP_001361622.1:p.Ile605Phe
|
|
|
NM_001374695.1:c.1774A>T
|
NP_001361624.1:p.Ile592Phe
|
|
|
NM_007171.4:c.2230A>T
|
NP_009102.4:p.Ile744Phe
|
|
|
NR_148391.2:n.2198A>T
|
|
|
|
NR_148392.2:n.2416A>T
|
|
|
|
NR_148393.2:n.2337A>T
|
|
|
|
NR_148394.2:n.2091A>T
|
|
|
|
NR_148395.2:n.2489A>T
|
|
|
|
NR_148396.2:n.2123A>T
|
|
|
|
NR_148397.2:n.2248A>T
|
|
|
|
NR_148398.2:n.2203A>T
|
|
|
|
NR_148399.2:n.2729A>T
|
|
|
|
NR_148400.2:n.2328A>T
|
|
|
