|
ENST00000370841.9:c.888G>C
MANE Select
|
ENSP00000359878.5:p.Leu296Phe
|
|
|
ENST00000473018.3:n.3012G>C
|
|
|
|
ENST00000532207.6:n.1777G>C
|
|
|
|
ENST00000541113.6:c.849+930G>C
|
ENSP00000442324.2:n.849+930G>C
|
|
|
ENST00000679509.1:n.1850G>C
|
|
|
|
ENST00000679530.1:c.*656G>C
|
ENSP00000506454.1:n.*656G>C
|
|
|
ENST00000679615.1:n.2903G>C
|
|
|
|
ENST00000679687.1:c.450G>C
|
ENSP00000506598.1:p.Leu150Phe
|
|
|
ENST00000679704.1:c.*654G>C
|
ENSP00000505117.1:n.*654G>C
|
|
|
ENST00000679709.1:c.*851G>C
|
ENSP00000506623.1:n.*851G>C
|
|
|
ENST00000679976.1:c.*472G>C
|
ENSP00000505565.1:n.*472G>C
|
|
|
ENST00000680166.1:n.4177G>C
|
|
|
|
ENST00000680315.1:n.771G>C
|
|
|
|
ENST00000680517.1:c.*276G>C
|
ENSP00000505803.1:n.*276G>C
|
|
|
ENST00000680582.1:n.1850G>C
|
|
|
|
ENST00000680613.1:c.*259G>C
|
ENSP00000506114.1:n.*259G>C
|
|
|
ENST00000680662.1:c.*802G>C
|
ENSP00000505080.1:n.*802G>C
|
|
|
ENST00000680691.1:c.*551G>C
|
ENSP00000506487.1:n.*551G>C
|
|
|
ENST00000680694.1:c.*476G>C
|
ENSP00000505658.1:n.*476G>C
|
|
|
ENST00000680743.1:c.*555G>C
|
ENSP00000505073.1:n.*555G>C
|
|
|
ENST00000680749.1:c.*173G>C
|
ENSP00000505122.1:n.*173G>C
|
|
|
ENST00000680798.1:c.*363G>C
|
ENSP00000505670.1:n.*363G>C
|
|
|
ENST00000680805.1:c.747G>C
|
ENSP00000505447.1:p.Leu249Phe
|
|
|
ENST00000680844.1:c.*672G>C
|
ENSP00000506541.1:n.*672G>C
|
|
|
ENST00000680948.1:c.*755G>C
|
ENSP00000505441.1:n.*755G>C
|
|
|
ENST00000680964.1:c.888G>C
|
ENSP00000505961.1:p.Leu296Phe
|
|
|
ENST00000681037.1:c.*2372G>C
|
ENSP00000506025.1:n.*2372G>C
|
|
|
ENST00000681063.1:c.*35G>C
|
ENSP00000506616.1:n.*35G>C
|
|
|
ENST00000681209.1:c.*543G>C
|
ENSP00000505877.1:n.*543G>C
|
|
|
ENST00000681278.1:n.1245G>C
|
|
|
|
ENST00000681289.1:n.4883G>C
|
|
|
|
ENST00000681361.1:c.*555G>C
|
ENSP00000506679.1:n.*555G>C
|
|
|
ENST00000681430.1:c.888G>C
|
ENSP00000506301.1:p.Leu296Phe
|
|
|
ENST00000681446.1:c.*470G>C
|
ENSP00000506244.1:n.*470G>C
|
|
|
ENST00000681450.1:c.*559G>C
|
ENSP00000505660.1:n.*559G>C
|
|
|
ENST00000681548.1:c.*474G>C
|
ENSP00000505275.1:n.*474G>C
|
|
|
ENST00000681616.1:c.*547G>C
|
ENSP00000505111.1:n.*547G>C
|
|
|
ENST00000681621.1:c.*472G>C
|
ENSP00000505770.1:n.*472G>C
|
|
|
ENST00000681680.1:n.2983G>C
|
|
|
|
ENST00000681720.1:c.*343G>C
|
ENSP00000505438.1:n.*343G>C
|
|
|
ENST00000681730.1:n.1110G>C
|
|
|
|
ENST00000681790.1:c.630G>C
|
ENSP00000505130.1:p.Leu210Phe
|
|
|
ENST00000681837.1:n.1504G>C
|
|
|
|
ENST00000681913.1:n.3012G>C
|
|
|
|
ENST00000681916.1:c.*656G>C
|
ENSP00000506477.1:n.*656G>C
|
|
|
ENST00000681930.1:n.3012G>C
|
|
|
|
ENST00000370834.9:c.987G>C
|
ENSP00000359871.5:p.Leu329Phe
|
|
|
ENST00000370841.8:c.888G>C
|
ENSP00000359878.4:p.Leu296Phe
|
|
|
ENST00000420607.6:c.900G>C
|
ENSP00000409612.2:p.Leu300Phe
|
|
|
ENST00000481374.1:n.39G>C
|
|
|
|
ENST00000525808.5:c.*474G>C
|
ENSP00000434823.1:n.*474G>C
|
|
|
ENST00000526129.5:c.*672G>C
|
ENSP00000434092.1:n.*672G>C
|
|
|
ENST00000526196.5:c.*656G>C
|
ENSP00000431953.1:n.*656G>C
|
|
|
ENST00000528016.1:c.102G>C
|
ENSP00000434284.1:p.Leu34Phe
|
|
|
ENST00000529059.5:n.797G>C
|
|
|
|
ENST00000532207.5:n.618G>C
|
|
|
|
ENST00000534334.5:c.*472G>C
|
ENSP00000435584.1:n.*472G>C
|
|
|
ENST00000541113.5:c.780G>C
|
ENSP00000442324.1:p.Leu260Phe
|
|
|
NM_000016.5:c.888G>C
|
NP_000007.1:p.Leu296Phe
|
|
|
NM_001127328.2:c.900G>C
|
NP_001120800.1:p.Leu300Phe
|
|
|
NM_001286042.1:c.780G>C
|
NP_001272971.1:p.Leu260Phe
|
|
|
NM_001286043.1:c.987G>C
|
NP_001272972.1:p.Leu329Phe
|
|
|
NM_001286044.1:c.321G>C
|
NP_001272973.1:p.Leu107Phe
|
|
|
NM_000016.6:c.888G>C
MANE Select
|
NP_000007.1:p.Leu296Phe
|
|
|
NM_001127328.3:c.900G>C
|
NP_001120800.1:p.Leu300Phe
|
|
|
NM_001286042.2:c.780G>C
|
NP_001272971.1:p.Leu260Phe
|
|
|
NM_001286043.2:c.987G>C
|
NP_001272972.1:p.Leu329Phe
|
|
|
NM_001286044.2:c.321G>C
|
NP_001272973.1:p.Leu107Phe
|
|
