|
ENST00000341012.13:c.1780C>G
|
ENSP00000343034.7:p.Leu594Val
|
|
|
ENST00000404875.7:n.2482C>G
|
|
|
|
ENST00000423007.6:c.1999C>G
|
ENSP00000404119.2:p.Leu667Val
|
|
|
ENST00000677295.2:c.*2286C>G
|
ENSP00000504346.2:n.*2286C>G
|
|
|
ENST00000678264.2:c.*2125C>G
|
ENSP00000503157.2:n.*2125C>G
|
|
|
ENST00000682070.1:n.2291-39C>G
|
|
|
|
ENST00000682813.1:n.2346C>G
|
|
|
|
ENST00000683392.1:n.4573-39C>G
|
|
|
|
ENST00000683712.1:n.2347C>G
|
|
|
|
ENST00000683900.1:n.3842C>G
|
|
|
|
ENST00000684062.1:n.2608C>G
|
|
|
|
ENST00000684579.1:n.3788C>G
|
|
|
|
ENST00000684679.1:n.1169C>G
|
|
|
|
ENST00000341012.12:c.1780C>G
|
ENSP00000343034.7:p.Leu594Val
|
|
|
ENST00000372220.5:c.811C>G
|
ENSP00000361294.5:p.Leu271Val
|
|
|
ENST00000372228.9:c.2008C>G
|
ENSP00000361302.3:p.Leu670Val
|
|
|
ENST00000402686.8:c.1942C>G
MANE Select
|
ENSP00000385797.4:p.Leu648Val
|
|
|
ENST00000676640.1:c.1942C>G
|
ENSP00000503281.1:p.Leu648Val
|
|
|
ENST00000676803.1:c.1003C>G
|
ENSP00000503093.1:p.Leu335Val
|
|
|
ENST00000676835.1:c.*1157C>G
|
ENSP00000502911.1:n.*1157C>G
|
|
|
ENST00000677029.1:c.1486C>G
|
ENSP00000502936.1:p.Leu496Val
|
|
|
ENST00000677099.1:c.*1652C>G
|
ENSP00000504553.1:n.*1652C>G
|
|
|
ENST00000677216.1:c.1591C>G
|
ENSP00000503772.1:p.Leu531Val
|
|
|
ENST00000677221.1:n.967C>G
|
|
|
|
ENST00000677295.1:c.*1203-39C>G
|
ENSP00000504346.1:n.*1203-39C>G
|
|
|
ENST00000677444.1:c.1887C>G
|
|
|
|
ENST00000677586.1:n.1309C>G
|
|
|
|
ENST00000677626.1:c.1591C>G
|
ENSP00000503552.1:p.Leu531Val
|
|
|
ENST00000677853.1:c.*950C>G
|
ENSP00000503488.1:n.*950C>G
|
|
|
ENST00000678202.1:n.1101C>G
|
|
|
|
ENST00000678264.1:c.*1319C>G
|
ENSP00000503157.1:n.*1319C>G
|
|
|
ENST00000678303.1:c.1852C>G
|
ENSP00000503696.1:p.Leu618Val
|
|
|
ENST00000678366.1:c.*2191C>G
|
ENSP00000504353.1:n.*2191C>G
|
|
|
ENST00000678546.1:c.*1887C>G
|
ENSP00000503062.1:n.*1887C>G
|
|
|
ENST00000678548.1:c.*2081C>G
|
ENSP00000503934.1:n.*2081C>G
|
|
|
ENST00000678626.1:n.1778C>G
|
|
|
|
ENST00000678739.1:c.*2147-39C>G
|
ENSP00000503806.1:n.*2147-39C>G
|
|
|
ENST00000678833.1:c.*1694C>G
|
ENSP00000503893.1:n.*1694C>G
|
|
|
ENST00000679023.1:c.1780C>G
|
ENSP00000503718.1:p.Leu594Val
|
|
|
ENST00000679076.1:c.1561C>G
|
|
|
|
ENST00000679111.1:c.*698C>G
|
ENSP00000504257.1:n.*698C>G
|
|
|
ENST00000679189.1:c.1591C>G
|
ENSP00000503356.1:p.Leu531Val
|
|
|
ENST00000341012.11:c.1780C>G
|
ENSP00000343034.7:p.Leu594Val
|
|
|
ENST00000372220.4:c.805C>G
|
ENSP00000361294.4:p.Leu269Val
|
|
|
ENST00000372228.7:c.2008C>G
|
ENSP00000361302.3:p.Leu670Val
|
|
|
ENST00000402686.7:c.1942C>G
|
ENSP00000385797.3:p.Leu648Val
|
|
|
ENST00000404875.6:c.1591C>G
|
ENSP00000384531.2:p.Leu531Val
|
|
|
ENST00000423007.5:c.1942C>G
|
ENSP00000404119.1:p.Leu648Val
|
|
|
ENST00000485278.5:n.2492C>G
|
|
|
|
ENST00000494883.1:n.485C>G
|
|
|
|
NM_001077365.1:c.1942C>G
|
NP_001070833.1:p.Leu648Val
|
|
|
NM_001077366.1:c.1780C>G
|
NP_001070834.1:p.Leu594Val
|
|
|
NM_001136113.1:c.1942C>G
|
NP_001129585.1:p.Leu648Val
|
|
|
NM_001136114.1:c.1591C>G
|
NP_001129586.1:p.Leu531Val
|
|
|
NM_007171.3:c.2008C>G
|
NP_009102.3:p.Leu670Val
|
|
|
XM_005272156.1:c.2008C>G
|
XP_005272213.1:p.Leu670Val
|
|
|
XM_005272158.1:c.1846C>G
|
XP_005272215.1:p.Leu616Val
|
|
|
XM_005272159.1:c.1657C>G
|
XP_005272216.1:p.Leu553Val
|
|
|
XM_005272162.1:c.811C>G
|
XP_005272219.1:p.Leu271Val
|
|
|
XM_006716932.1:c.1657C>G
|
XP_006716995.1:p.Leu553Val
|
|
|
XM_011518140.1:c.1861C>G
|
XP_011516442.1:p.Leu621Val
|
|
|
XM_011518141.1:c.1795C>G
|
XP_011516443.1:p.Leu599Val
|
|
|
XM_011518142.1:c.1699C>G
|
XP_011516444.1:p.Leu567Val
|
|
|
XM_011518143.1:c.1693C>G
|
XP_011516445.1:p.Leu565Val
|
|
|
XM_011518145.1:c.1552C>G
|
XP_011516447.1:p.Leu518Val
|
|
|
XM_011518147.1:c.880C>G
|
XP_011516449.1:p.Leu294Val
|
|
|
XR_929703.1:n.2184C>G
|
|
|
|
NM_001353193.1:c.2008C>G
|
NP_001340122.1:p.Leu670Val
|
|
|
NM_001353194.1:c.1780C>G
|
NP_001340123.1:p.Leu594Val
|
|
|
NM_001353195.1:c.1591C>G
|
NP_001340124.1:p.Leu531Val
|
|
|
NM_001353196.1:c.1852C>G
|
NP_001340125.1:p.Leu618Val
|
|
|
NM_001353197.1:c.1846C>G
|
NP_001340126.1:p.Leu616Val
|
|
|
NM_001353198.1:c.1846C>G
|
NP_001340127.1:p.Leu616Val
|
|
|
NM_001353199.1:c.1657C>G
|
NP_001340128.1:p.Leu553Val
|
|
|
NM_001353200.1:c.1486C>G
|
NP_001340129.1:p.Leu496Val
|
|
|
NR_148391.1:n.1992C>G
|
|
|
|
NR_148392.1:n.2210C>G
|
|
|
|
NR_148393.1:n.2131C>G
|
|
|
|
NR_148394.1:n.1885C>G
|
|
|
|
NR_148395.1:n.2283C>G
|
|
|
|
NR_148396.1:n.1917C>G
|
|
|
|
NR_148397.1:n.2042C>G
|
|
|
|
NR_148398.1:n.1997C>G
|
|
|
|
NR_148399.1:n.2523C>G
|
|
|
|
NR_148400.1:n.2122C>G
|
|
|
|
XM_005272162.3:c.811C>G
|
XP_005272219.1:p.Leu271Val
|
|
|
XM_006716932.2:c.1657C>G
|
XP_006716995.1:p.Leu553Val
|
|
|
XM_011518140.2:c.1861C>G
|
XP_011516442.1:p.Leu621Val
|
|
|
XM_011518141.2:c.1795C>G
|
XP_011516443.1:p.Leu599Val
|
|
|
XM_011518142.2:c.1699C>G
|
XP_011516444.1:p.Leu567Val
|
|
|
XM_011518143.2:c.1693C>G
|
XP_011516445.1:p.Leu565Val
|
|
|
XM_011518145.2:c.1552C>G
|
XP_011516447.1:p.Leu518Val
|
|
|
XM_017014205.2:c.811C>G
|
XP_016869694.1:p.Leu271Val
|
|
|
XM_024447380.1:c.811C>G
|
XP_024303148.1:p.Leu271Val
|
|
|
XM_024447381.1:c.1117C>G
|
XP_024303149.1:p.Leu373Val
|
|
|
XM_024447382.1:c.811C>G
|
XP_024303150.1:p.Leu271Val
|
|
|
XR_001746160.2:n.2112C>G
|
|
|
|
XR_001746162.2:n.2317C>G
|
|
|
|
XR_001746164.1:n.2034C>G
|
|
|
|
XR_001746166.2:n.2329C>G
|
|
|
|
NM_001077365.2:c.1942C>G
MANE Select
|
NP_001070833.1:p.Leu648Val
|
|
|
NM_001077366.2:c.1780C>G
|
NP_001070834.1:p.Leu594Val
|
|
|
NM_001136113.2:c.1942C>G
|
NP_001129585.1:p.Leu648Val
|
|
|
NM_001136114.2:c.1591C>G
|
NP_001129586.1:p.Leu531Val
|
|
|
NM_001353193.2:c.2008C>G
|
NP_001340122.2:p.Leu670Val
|
|
|
NM_001353194.2:c.1780C>G
|
NP_001340123.1:p.Leu594Val
|
|
|
NM_001353195.2:c.1591C>G
|
NP_001340124.1:p.Leu531Val
|
|
|
NM_001353196.2:c.1852C>G
|
NP_001340125.1:p.Leu618Val
|
|
|
NM_001353197.2:c.1846C>G
|
NP_001340126.2:p.Leu616Val
|
|
|
NM_001353198.2:c.1846C>G
|
NP_001340127.2:p.Leu616Val
|
|
|
NM_001353199.2:c.1657C>G
|
NP_001340128.2:p.Leu553Val
|
|
|
NM_001353200.2:c.1486C>G
|
NP_001340129.1:p.Leu496Val
|
|
|
NM_001374689.1:c.1930C>G
|
NP_001361618.1:p.Leu644Val
|
|
|
NM_001374690.1:c.1723C>G
|
NP_001361619.1:p.Leu575Val
|
|
|
NM_001374691.1:c.1591C>G
|
NP_001361620.1:p.Leu531Val
|
|
|
NM_001374692.1:c.1591C>G
|
NP_001361621.1:p.Leu531Val
|
|
|
NM_001374693.1:c.1591C>G
|
NP_001361622.1:p.Leu531Val
|
|
|
NM_001374695.1:c.1552C>G
|
NP_001361624.1:p.Leu518Val
|
|
|
NM_007171.4:c.2008C>G
|
NP_009102.4:p.Leu670Val
|
|
|
NR_148391.2:n.1976C>G
|
|
|
|
NR_148392.2:n.2194C>G
|
|
|
|
NR_148393.2:n.2115C>G
|
|
|
|
NR_148394.2:n.1869C>G
|
|
|
|
NR_148395.2:n.2267C>G
|
|
|
|
NR_148396.2:n.1901C>G
|
|
|
|
NR_148397.2:n.2026C>G
|
|
|
|
NR_148398.2:n.1981C>G
|
|
|
|
NR_148399.2:n.2507C>G
|
|
|
|
NR_148400.2:n.2106C>G
|
|
|
