|
ENST00000341012.13:c.1726C>T
|
ENSP00000343034.7:p.Leu576Phe
|
|
|
ENST00000404875.7:n.2428C>T
|
|
|
|
ENST00000423007.6:c.1945C>T
|
ENSP00000404119.2:p.Leu649Phe
|
|
|
ENST00000677295.2:c.*2232C>T
|
ENSP00000504346.2:n.*2232C>T
|
|
|
ENST00000678264.2:c.*2071C>T
|
ENSP00000503157.2:n.*2071C>T
|
|
|
ENST00000682070.1:n.2291-93C>T
|
|
|
|
ENST00000682813.1:n.2292C>T
|
|
|
|
ENST00000683392.1:n.4573-93C>T
|
|
|
|
ENST00000683712.1:n.2293C>T
|
|
|
|
ENST00000683900.1:n.3788C>T
|
|
|
|
ENST00000684062.1:n.2554C>T
|
|
|
|
ENST00000684579.1:n.3734C>T
|
|
|
|
ENST00000684679.1:n.1115C>T
|
|
|
|
ENST00000341012.12:c.1726C>T
|
ENSP00000343034.7:p.Leu576Phe
|
|
|
ENST00000372220.5:c.757C>T
|
ENSP00000361294.5:p.Leu253Phe
|
|
|
ENST00000372228.9:c.1954C>T
|
ENSP00000361302.3:p.Leu652Phe
|
|
|
ENST00000402686.8:c.1888C>T
MANE Select
|
ENSP00000385797.4:p.Leu630Phe
|
|
|
ENST00000676640.1:c.1888C>T
|
ENSP00000503281.1:p.Leu630Phe
|
|
|
ENST00000676803.1:c.949C>T
|
ENSP00000503093.1:p.Leu317Phe
|
|
|
ENST00000676835.1:c.*1103C>T
|
ENSP00000502911.1:n.*1103C>T
|
|
|
ENST00000677029.1:c.1432C>T
|
ENSP00000502936.1:p.Leu478Phe
|
|
|
ENST00000677099.1:c.*1598C>T
|
ENSP00000504553.1:n.*1598C>T
|
|
|
ENST00000677216.1:c.1537C>T
|
ENSP00000503772.1:p.Leu513Phe
|
|
|
ENST00000677221.1:n.913C>T
|
|
|
|
ENST00000677295.1:c.*1203-93C>T
|
ENSP00000504346.1:n.*1203-93C>T
|
|
|
ENST00000677444.1:c.1833C>T
|
|
|
|
ENST00000677586.1:n.1255C>T
|
|
|
|
ENST00000677626.1:c.1537C>T
|
ENSP00000503552.1:p.Leu513Phe
|
|
|
ENST00000677853.1:c.*896C>T
|
ENSP00000503488.1:n.*896C>T
|
|
|
ENST00000678202.1:n.1047C>T
|
|
|
|
ENST00000678264.1:c.*1265C>T
|
ENSP00000503157.1:n.*1265C>T
|
|
|
ENST00000678303.1:c.1798C>T
|
ENSP00000503696.1:p.Leu600Phe
|
|
|
ENST00000678366.1:c.*2137C>T
|
ENSP00000504353.1:n.*2137C>T
|
|
|
ENST00000678546.1:c.*1833C>T
|
ENSP00000503062.1:n.*1833C>T
|
|
|
ENST00000678548.1:c.*2027C>T
|
ENSP00000503934.1:n.*2027C>T
|
|
|
ENST00000678626.1:n.1724C>T
|
|
|
|
ENST00000678739.1:c.*2147-93C>T
|
ENSP00000503806.1:n.*2147-93C>T
|
|
|
ENST00000678833.1:c.*1640C>T
|
ENSP00000503893.1:n.*1640C>T
|
|
|
ENST00000679023.1:c.1726C>T
|
ENSP00000503718.1:p.Leu576Phe
|
|
|
ENST00000679076.1:c.1507C>T
|
|
|
|
ENST00000679111.1:c.*644C>T
|
ENSP00000504257.1:n.*644C>T
|
|
|
ENST00000679189.1:c.1537C>T
|
ENSP00000503356.1:p.Leu513Phe
|
|
|
ENST00000341012.11:c.1726C>T
|
ENSP00000343034.7:p.Leu576Phe
|
|
|
ENST00000372220.4:c.751C>T
|
ENSP00000361294.4:p.Leu251Phe
|
|
|
ENST00000372228.7:c.1954C>T
|
ENSP00000361302.3:p.Leu652Phe
|
|
|
ENST00000402686.7:c.1888C>T
|
ENSP00000385797.3:p.Leu630Phe
|
|
|
ENST00000404875.6:c.1537C>T
|
ENSP00000384531.2:p.Leu513Phe
|
|
|
ENST00000423007.5:c.1888C>T
|
ENSP00000404119.1:p.Leu630Phe
|
|
|
ENST00000485278.5:n.2438C>T
|
|
|
|
ENST00000494883.1:n.431C>T
|
|
|
|
NM_001077365.1:c.1888C>T
|
NP_001070833.1:p.Leu630Phe
|
|
|
NM_001077366.1:c.1726C>T
|
NP_001070834.1:p.Leu576Phe
|
|
|
NM_001136113.1:c.1888C>T
|
NP_001129585.1:p.Leu630Phe
|
|
|
NM_001136114.1:c.1537C>T
|
NP_001129586.1:p.Leu513Phe
|
|
|
NM_007171.3:c.1954C>T
|
NP_009102.3:p.Leu652Phe
|
|
|
XM_005272156.1:c.1954C>T
|
XP_005272213.1:p.Leu652Phe
|
|
|
XM_005272158.1:c.1792C>T
|
XP_005272215.1:p.Leu598Phe
|
|
|
XM_005272159.1:c.1603C>T
|
XP_005272216.1:p.Leu535Phe
|
|
|
XM_005272162.1:c.757C>T
|
XP_005272219.1:p.Leu253Phe
|
|
|
XM_006716932.1:c.1603C>T
|
XP_006716995.1:p.Leu535Phe
|
|
|
XM_011518140.1:c.1807C>T
|
XP_011516442.1:p.Leu603Phe
|
|
|
XM_011518141.1:c.1741C>T
|
XP_011516443.1:p.Leu581Phe
|
|
|
XM_011518142.1:c.1645C>T
|
XP_011516444.1:p.Leu549Phe
|
|
|
XM_011518143.1:c.1639C>T
|
XP_011516445.1:p.Leu547Phe
|
|
|
XM_011518145.1:c.1498C>T
|
XP_011516447.1:p.Leu500Phe
|
|
|
XM_011518147.1:c.826C>T
|
XP_011516449.1:p.Leu276Phe
|
|
|
XR_929703.1:n.2130C>T
|
|
|
|
NM_001353193.1:c.1954C>T
|
NP_001340122.1:p.Leu652Phe
|
|
|
NM_001353194.1:c.1726C>T
|
NP_001340123.1:p.Leu576Phe
|
|
|
NM_001353195.1:c.1537C>T
|
NP_001340124.1:p.Leu513Phe
|
|
|
NM_001353196.1:c.1798C>T
|
NP_001340125.1:p.Leu600Phe
|
|
|
NM_001353197.1:c.1792C>T
|
NP_001340126.1:p.Leu598Phe
|
|
|
NM_001353198.1:c.1792C>T
|
NP_001340127.1:p.Leu598Phe
|
|
|
NM_001353199.1:c.1603C>T
|
NP_001340128.1:p.Leu535Phe
|
|
|
NM_001353200.1:c.1432C>T
|
NP_001340129.1:p.Leu478Phe
|
|
|
NR_148391.1:n.1938C>T
|
|
|
|
NR_148392.1:n.2156C>T
|
|
|
|
NR_148393.1:n.2077C>T
|
|
|
|
NR_148394.1:n.1831C>T
|
|
|
|
NR_148395.1:n.2229C>T
|
|
|
|
NR_148396.1:n.1863C>T
|
|
|
|
NR_148397.1:n.1988C>T
|
|
|
|
NR_148398.1:n.1943C>T
|
|
|
|
NR_148399.1:n.2469C>T
|
|
|
|
NR_148400.1:n.2068C>T
|
|
|
|
XM_005272162.3:c.757C>T
|
XP_005272219.1:p.Leu253Phe
|
|
|
XM_006716932.2:c.1603C>T
|
XP_006716995.1:p.Leu535Phe
|
|
|
XM_011518140.2:c.1807C>T
|
XP_011516442.1:p.Leu603Phe
|
|
|
XM_011518141.2:c.1741C>T
|
XP_011516443.1:p.Leu581Phe
|
|
|
XM_011518142.2:c.1645C>T
|
XP_011516444.1:p.Leu549Phe
|
|
|
XM_011518143.2:c.1639C>T
|
XP_011516445.1:p.Leu547Phe
|
|
|
XM_011518145.2:c.1498C>T
|
XP_011516447.1:p.Leu500Phe
|
|
|
XM_017014205.2:c.757C>T
|
XP_016869694.1:p.Leu253Phe
|
|
|
XM_024447380.1:c.757C>T
|
XP_024303148.1:p.Leu253Phe
|
|
|
XM_024447381.1:c.1063C>T
|
XP_024303149.1:p.Leu355Phe
|
|
|
XM_024447382.1:c.757C>T
|
XP_024303150.1:p.Leu253Phe
|
|
|
XR_001746160.2:n.2058C>T
|
|
|
|
XR_001746162.2:n.2263C>T
|
|
|
|
XR_001746164.1:n.1980C>T
|
|
|
|
XR_001746166.2:n.2275C>T
|
|
|
|
NM_001077365.2:c.1888C>T
MANE Select
|
NP_001070833.1:p.Leu630Phe
|
|
|
NM_001077366.2:c.1726C>T
|
NP_001070834.1:p.Leu576Phe
|
|
|
NM_001136113.2:c.1888C>T
|
NP_001129585.1:p.Leu630Phe
|
|
|
NM_001136114.2:c.1537C>T
|
NP_001129586.1:p.Leu513Phe
|
|
|
NM_001353193.2:c.1954C>T
|
NP_001340122.2:p.Leu652Phe
|
|
|
NM_001353194.2:c.1726C>T
|
NP_001340123.1:p.Leu576Phe
|
|
|
NM_001353195.2:c.1537C>T
|
NP_001340124.1:p.Leu513Phe
|
|
|
NM_001353196.2:c.1798C>T
|
NP_001340125.1:p.Leu600Phe
|
|
|
NM_001353197.2:c.1792C>T
|
NP_001340126.2:p.Leu598Phe
|
|
|
NM_001353198.2:c.1792C>T
|
NP_001340127.2:p.Leu598Phe
|
|
|
NM_001353199.2:c.1603C>T
|
NP_001340128.2:p.Leu535Phe
|
|
|
NM_001353200.2:c.1432C>T
|
NP_001340129.1:p.Leu478Phe
|
|
|
NM_001374689.1:c.1876C>T
|
NP_001361618.1:p.Leu626Phe
|
|
|
NM_001374690.1:c.1669C>T
|
NP_001361619.1:p.Leu557Phe
|
|
|
NM_001374691.1:c.1537C>T
|
NP_001361620.1:p.Leu513Phe
|
|
|
NM_001374692.1:c.1537C>T
|
NP_001361621.1:p.Leu513Phe
|
|
|
NM_001374693.1:c.1537C>T
|
NP_001361622.1:p.Leu513Phe
|
|
|
NM_001374695.1:c.1498C>T
|
NP_001361624.1:p.Leu500Phe
|
|
|
NM_007171.4:c.1954C>T
|
NP_009102.4:p.Leu652Phe
|
|
|
NR_148391.2:n.1922C>T
|
|
|
|
NR_148392.2:n.2140C>T
|
|
|
|
NR_148393.2:n.2061C>T
|
|
|
|
NR_148394.2:n.1815C>T
|
|
|
|
NR_148395.2:n.2213C>T
|
|
|
|
NR_148396.2:n.1847C>T
|
|
|
|
NR_148397.2:n.1972C>T
|
|
|
|
NR_148398.2:n.1927C>T
|
|
|
|
NR_148399.2:n.2453C>T
|
|
|
|
NR_148400.2:n.2052C>T
|
|
|
