|
ENST00000402135.8:c.655C>T
|
ENSP00000385021.3:p.Leu219Phe
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|
|
ENST00000403295.8:c.640C>T
|
ENSP00000386097.3:p.Leu214Phe
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|
ENST00000403676.6:c.*203C>T
|
ENSP00000384046.2:n.*203C>T
|
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ENST00000417361.2:c.*218C>T
|
ENSP00000389448.2:n.*218C>T
|
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|
ENST00000427708.7:c.685C>T
|
ENSP00000400969.3:p.Leu229Phe
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|
ENST00000446381.6:c.196C>T
|
ENSP00000390991.2:p.Leu66Phe
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|
ENST00000449070.6:c.463C>T
|
ENSP00000401280.2:p.Leu155Phe
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ENST00000470506.2:n.714C>T
|
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ENST00000696305.1:c.583C>T
|
ENSP00000512543.1:p.Leu195Phe
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|
ENST00000696306.1:c.*90C>T
|
ENSP00000512544.1:n.*90C>T
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ENST00000696307.1:c.640C>T
|
ENSP00000512545.1:p.Leu214Phe
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ENST00000696314.1:c.640C>T
|
ENSP00000512552.1:p.Leu214Phe
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ENST00000696315.1:c.*203C>T
|
ENSP00000512553.1:n.*203C>T
|
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ENST00000696316.1:c.640C>T
|
ENSP00000512554.1:p.Leu214Phe
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|
ENST00000696317.1:c.640C>T
|
ENSP00000512555.1:p.Leu214Phe
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ENST00000696318.1:c.196C>T
|
ENSP00000512556.1:p.Leu66Phe
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|
ENST00000696319.1:c.598C>T
|
ENSP00000512557.1:p.Leu200Phe
|
|
|
ENST00000696320.1:n.652C>T
|
|
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|
ENST00000696324.1:c.*218C>T
|
ENSP00000512561.1:n.*218C>T
|
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|
ENST00000696325.1:n.3723C>T
|
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|
ENST00000696326.1:c.700C>T
|
ENSP00000512562.1:p.Leu234Phe
|
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|
ENST00000696338.1:n.673C>T
|
|
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|
ENST00000696339.1:n.134C>T
|
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ENST00000696340.1:n.660C>T
|
|
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|
ENST00000696341.1:n.708C>T
|
|
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|
ENST00000696342.1:c.*203C>T
|
ENSP00000512569.1:n.*203C>T
|
|
|
ENST00000696343.1:n.2499C>T
|
|
|
|
ENST00000696344.1:c.*354C>T
|
ENSP00000512570.1:n.*354C>T
|
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|
ENST00000696345.1:n.667C>T
|
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ENST00000696346.1:n.309C>T
|
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ENST00000696358.1:n.667C>T
|
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ENST00000696360.1:n.1344C>T
|
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|
ENST00000696361.1:c.*203C>T
|
ENSP00000512579.1:n.*203C>T
|
|
|
ENST00000696362.1:c.*90C>T
|
ENSP00000512580.1:n.*90C>T
|
|
|
ENST00000696363.1:n.2417C>T
|
|
|
|
ENST00000696364.1:n.593C>T
|
|
|
|
ENST00000696371.1:c.631C>T
|
ENSP00000512586.1:p.Leu211Phe
|
|
|
ENST00000696373.1:c.*203C>T
|
ENSP00000512587.1:n.*203C>T
|
|
|
ENST00000696374.1:c.*90C>T
|
ENSP00000512588.1:n.*90C>T
|
|
|
ENST00000696375.1:n.7133C>T
|
|
|
|
ENST00000696376.1:n.4759C>T
|
|
|
|
ENST00000696377.1:n.527C>T
|
|
|
|
ENST00000696378.1:c.*218C>T
|
ENSP00000512589.1:n.*218C>T
|
|
|
ENST00000696379.1:c.*203C>T
|
ENSP00000512590.1:n.*203C>T
|
|
|
ENST00000696380.1:n.420C>T
|
|
|
|
ENST00000696394.1:n.3702C>T
|
|
|
|
ENST00000696395.1:n.208C>T
|
|
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|
ENST00000696396.1:n.1354C>T
|
|
|
|
ENST00000696397.1:n.2325C>T
|
|
|
|
ENST00000696398.1:c.640C>T
|
ENSP00000512604.1:p.Leu214Phe
|
|
|
ENST00000696399.1:n.247C>T
|
|
|
|
ENST00000696400.1:c.*404C>T
|
ENSP00000512605.1:n.*404C>T
|
|
|
ENST00000696401.1:n.622C>T
|
|
|
|
ENST00000696402.1:n.12C>T
|
|
|
|
ENST00000696409.1:c.*203C>T
|
ENSP00000512610.1:n.*203C>T
|
|
|
ENST00000696410.1:c.*203C>T
|
ENSP00000512611.1:n.*203C>T
|
|
|
ENST00000696411.1:n.264C>T
|
|
|
|
ENST00000696412.1:n.1139C>T
|
|
|
|
ENST00000696413.1:n.770C>T
|
|
|
|
ENST00000696414.1:n.1246C>T
|
|
|
|
ENST00000696415.1:c.655C>T
|
ENSP00000512612.1:p.Leu219Phe
|
|
|
ENST00000696416.1:n.208C>T
|
|
|
|
ENST00000696417.1:c.*370C>T
|
ENSP00000512613.1:n.*370C>T
|
|
|
ENST00000696432.1:n.3099C>T
|
|
|
|
ENST00000696433.1:c.196C>T
|
ENSP00000512627.1:p.Leu66Phe
|
|
|
ENST00000696434.1:c.478C>T
|
ENSP00000512628.1:p.Leu160Phe
|
|
|
ENST00000696435.1:c.196C>T
|
ENSP00000512629.1:p.Leu66Phe
|
|
|
ENST00000696436.1:n.676C>T
|
|
|
|
ENST00000696437.1:n.1057C>T
|
|
|
|
ENST00000696438.1:c.*473C>T
|
ENSP00000512630.1:n.*473C>T
|
|
|
ENST00000696439.1:n.2689C>T
|
|
|
|
ENST00000696440.1:n.1804C>T
|
|
|
|
ENST00000696454.1:c.*203C>T
|
ENSP00000512641.1:n.*203C>T
|
|
|
ENST00000696455.1:c.478C>T
|
ENSP00000512642.1:p.Leu160Phe
|
|
|
ENST00000696457.1:c.196C>T
|
ENSP00000512643.1:p.Leu66Phe
|
|
|
ENST00000696458.1:c.583C>T
|
ENSP00000512644.1:p.Leu195Phe
|
|
|
ENST00000696459.1:c.*203C>T
|
ENSP00000512645.1:n.*203C>T
|
|
|
ENST00000696460.1:n.697C>T
|
|
|
|
ENST00000696467.1:c.*218C>T
|
ENSP00000512648.1:n.*218C>T
|
|
|
ENST00000696468.1:c.*132C>T
|
ENSP00000512649.1:n.*132C>T
|
|
|
ENST00000696469.1:c.655C>T
|
ENSP00000512650.1:p.Leu219Phe
|
|
|
ENST00000696470.1:n.162C>T
|
|
|
|
ENST00000696471.1:n.310C>T
|
|
|
|
ENST00000696472.1:c.655C>T
|
ENSP00000512651.1:p.Leu219Phe
|
|
|
ENST00000696473.1:c.*323C>T
|
ENSP00000512652.1:n.*323C>T
|
|
|
ENST00000696474.1:n.562C>T
|
|
|
|
ENST00000696475.1:n.2276C>T
|
|
|
|
ENST00000696492.1:c.*305C>T
|
ENSP00000512662.1:n.*305C>T
|
|
|
ENST00000696493.1:c.*488C>T
|
ENSP00000512663.1:n.*488C>T
|
|
|
ENST00000696494.1:n.800C>T
|
|
|
|
ENST00000696495.1:c.*386C>T
|
ENSP00000512664.1:n.*386C>T
|
|
|
ENST00000696496.1:n.739C>T
|
|
|
|
ENST00000696497.1:n.3937C>T
|
|
|
|
ENST00000696498.1:n.1527C>T
|
|
|
|
ENST00000696499.1:c.*77C>T
|
ENSP00000512665.1:n.*77C>T
|
|
|
ENST00000696508.1:c.*203C>T
|
ENSP00000512674.1:n.*203C>T
|
|
|
ENST00000696509.1:c.*77C>T
|
ENSP00000512675.1:n.*77C>T
|
|
|
ENST00000696510.1:c.196C>T
|
ENSP00000512676.1:p.Leu66Phe
|
|
|
ENST00000696527.1:c.640C>T
|
ENSP00000512690.1:p.Leu214Phe
|
|
|
ENST00000696528.1:c.583C>T
|
ENSP00000512691.1:p.Leu195Phe
|
|
|
ENST00000696529.1:n.503C>T
|
|
|
|
ENST00000696530.1:c.436C>T
|
ENSP00000512692.1:p.Leu146Phe
|
|
|
ENST00000696531.1:c.*218C>T
|
ENSP00000512693.1:n.*218C>T
|
|
|
ENST00000696532.1:n.1787C>T
|
|
|
|
ENST00000696542.1:n.138C>T
|
|
|
|
ENST00000696543.1:c.463C>T
|
ENSP00000512703.1:p.Leu155Phe
|
|
|
ENST00000696544.1:c.520C>T
|
ENSP00000512704.1:p.Leu174Phe
|
|
|
ENST00000696545.1:c.*354C>T
|
ENSP00000512705.1:n.*354C>T
|
|
|
ENST00000696546.1:c.*419C>T
|
ENSP00000512706.1:n.*419C>T
|
|
|
ENST00000696547.1:c.628C>T
|
ENSP00000512707.1:p.Leu210Phe
|
|
|
ENST00000696548.1:c.*404C>T
|
ENSP00000512708.1:n.*404C>T
|
|
|
ENST00000696564.1:c.685C>T
|
ENSP00000512722.1:p.Leu229Phe
|
|
|
ENST00000696565.1:c.700C>T
|
ENSP00000512723.1:p.Leu234Phe
|
|
|
ENST00000696566.1:n.582C>T
|
|
|
|
ENST00000696567.1:c.640C>T
|
ENSP00000512724.1:p.Leu214Phe
|
|
|
ENST00000696569.1:n.668C>T
|
|
|
|
ENST00000696570.1:c.*90C>T
|
ENSP00000512725.1:n.*90C>T
|
|
|
ENST00000696594.1:c.640C>T
|
ENSP00000512739.1:p.Leu214Phe
|
|
|
ENST00000696595.1:c.583C>T
|
ENSP00000512740.1:p.Leu195Phe
|
|
|
ENST00000696619.1:n.1756C>T
|
|
|
|
ENST00000696620.1:c.316C>T
|
ENSP00000512759.1:p.Leu106Phe
|
|
|
ENST00000696621.1:c.640C>T
|
ENSP00000512760.1:p.Leu214Phe
|
|
|
ENST00000696622.1:n.704C>T
|
|
|
|
ENST00000696623.1:n.525C>T
|
|
|
|
ENST00000696624.1:c.655C>T
|
ENSP00000512761.1:p.Leu219Phe
|
|
|
ENST00000696625.1:c.*90C>T
|
ENSP00000512762.1:n.*90C>T
|
|
|
ENST00000696634.1:c.377C>T
|
ENSP00000512770.1:n.377C>T
|
|
|
ENST00000696635.1:c.640C>T
|
ENSP00000512771.1:p.Leu214Phe
|
|
|
ENST00000696636.1:n.1425C>T
|
|
|
|
ENST00000696637.1:n.5067C>T
|
|
|
|
ENST00000696638.1:n.655C>T
|
|
|
|
ENST00000696639.1:n.72C>T
|
|
|
|
ENST00000233741.9:c.640C>T
MANE Select
|
ENSP00000233741.5:p.Leu214Phe
|
|
|
ENST00000233741.8:c.640C>T
|
ENSP00000233741.4:p.Leu214Phe
|
|
|
ENST00000402135.7:c.655C>T
|
ENSP00000385021.3:p.Leu219Phe
|
|
|
ENST00000403295.7:c.640C>T
|
ENSP00000386097.3:p.Leu214Phe
|
|
|
ENST00000403676.5:c.289C>T
|
ENSP00000384046.1:p.Leu97Phe
|
|
|
ENST00000417361.1:c.304C>T
|
ENSP00000389448.1:p.Leu102Phe
|
|
|
ENST00000427708.6:c.683C>T
|
|
|
|
ENST00000446381.5:c.196C>T
|
ENSP00000390991.1:p.Leu66Phe
|
|
|
ENST00000449070.5:c.463C>T
|
ENSP00000401280.1:p.Leu155Phe
|
|
|
ENST00000470506.1:n.29C>T
|
|
|
|
NM_001114636.1:c.655C>T , LRG_501t1:c.655C>T
|
NP_001108108.1:p.Leu219Phe
|
|
|
NM_018062.3:c.640C>T , LRG_501t2:c.640C>T
|
NP_060532.2:p.Leu214Phe
|
|
|
XM_005264395.2:c.640C>T
|
XP_005264452.1:p.Leu214Phe
|
|
|
XM_005264397.3:c.289C>T
|
XP_005264454.1:p.Leu97Phe
|
|
|
XM_011532939.1:c.700C>T
|
XP_011531241.1:p.Leu234Phe
|
|
|
XM_011532940.1:c.685C>T
|
XP_011531242.1:p.Leu229Phe
|
|
|
XM_011532941.1:c.700C>T
|
XP_011531243.1:p.Leu234Phe
|
|
|
XM_011532942.1:c.655C>T
|
XP_011531244.1:p.Leu219Phe
|
|
|
XM_011532943.1:c.901C>T
|
XP_011531245.1:p.Leu301Phe
|
|
|
XM_011532944.1:c.349C>T
|
XP_011531246.1:p.Leu117Phe
|
|
|
XM_011532945.1:c.304C>T
|
XP_011531247.1:p.Leu102Phe
|
|
|
XR_939692.1:n.767C>T
|
|
|
|
NR_156742.1:n.429C>T
|
|
|
|
XM_005264395.4:c.640C>T
|
XP_005264452.1:p.Leu214Phe
|
|
|
XM_011532939.3:c.700C>T
|
XP_011531241.1:p.Leu234Phe
|
|
|
XM_011532940.3:c.685C>T
|
XP_011531242.1:p.Leu229Phe
|
|
|
XM_011532941.2:c.700C>T
|
XP_011531243.1:p.Leu234Phe
|
|
|
XM_011532942.3:c.655C>T
|
XP_011531244.1:p.Leu219Phe
|
|
|
XM_011532944.2:c.349C>T
|
XP_011531246.1:p.Leu117Phe
|
|
|
XM_011532945.2:c.304C>T
|
XP_011531247.1:p.Leu102Phe
|
|
|
XM_017004414.2:c.685C>T
|
XP_016859903.1:p.Leu229Phe
|
|
|
XM_017004416.1:c.289C>T
|
XP_016859905.1:p.Leu97Phe
|
|
|
XR_001738802.2:n.714C>T
|
|
|
|
XR_001738803.2:n.699C>T
|
|
|
|
XR_002959309.1:n.842C>T
|
|
|
|
XR_939692.2:n.759C>T
|
|
|
|
NM_001374615.1:c.685C>T
|
NP_001361544.1:p.Leu229Phe
|
|
|
NM_018062.4:c.640C>T
MANE Select
|
NP_060532.2:p.Leu214Phe
|
|
|
NR_164659.1:n.649C>T
|
|
|
