|
NM_018062.4:c.940C>T
(FANCL)
MANE Select
|
NP_060532.2:p.Gln314Ter
|
|
ENST00000233741.9:c.940C>T
(FANCL)
MANE Select
|
ENSP00000233741.5:p.Gln314Ter
|
|
NM_001114636.1:c.955C>T , LRG_501t1:c.955C>T
(FANCL)
|
NP_001108108.1:p.Gln319Ter
|
|
NM_001374615.1:c.985C>T
(FANCL)
|
NP_001361544.1:p.Gln329Ter
|
|
NM_018062.3:c.940C>T , LRG_501t2:c.940C>T
(FANCL)
|
NP_060532.2:p.Gln314Ter
|
|
NR_156742.1:n.729C>T
(FANCL)
|
|
|
NR_164659.1:n.821C>T
(FANCL)
|
|
|
ENST00000233741.8:c.940C>T
(FANCL)
|
ENSP00000233741.4:p.Gln314Ter
|
|
ENST00000402135.7:c.955C>T
(FANCL)
|
ENSP00000385021.3:p.Gln319Ter
|
|
ENST00000402135.8:c.955C>T
(FANCL)
|
ENSP00000385021.3:p.Gln319Ter
|
|
ENST00000403295.7:c.856C>T
(FANCL)
|
ENSP00000386097.3:p.Gln286Ter
|
|
ENST00000403295.8:c.856C>T
(FANCL)
|
ENSP00000386097.3:p.Gln286Ter
|
|
ENST00000403676.5:c.589C>T
(FANCL)
|
ENSP00000384046.1:p.Gln197Ter
|
|
ENST00000403676.6:c.*503C>T
(FANCL)
|
ENSP00000384046.2:n.*503C>T
|
|
ENST00000417361.2:c.*518C>T
(FANCL)
|
ENSP00000389448.2:n.*518C>T
|
|
ENST00000427708.7:c.985C>T
(FANCL)
|
ENSP00000400969.3:p.Gln329Ter
|
|
ENST00000446381.6:c.496C>T
(FANCL)
|
ENSP00000390991.2:p.Gln166Ter
|
|
ENST00000449070.5:c.763C>T
(FANCL)
|
ENSP00000401280.1:p.Gln255Ter
|
|
ENST00000449070.6:c.763C>T
(FANCL)
|
ENSP00000401280.2:p.Gln255Ter
|
|
ENST00000470506.2:n.1454C>T
(FANCL)
|
|
|
ENST00000696305.1:c.883C>T
(FANCL)
|
ENSP00000512543.1:p.Gln295Ter
|
|
ENST00000696306.1:c.*830C>T
(FANCL)
|
ENSP00000512544.1:n.*830C>T
|
|
ENST00000696307.1:c.925C>T
(FANCL)
|
ENSP00000512545.1:p.Gln309Ter
|
|
ENST00000696314.1:c.812C>T
(FANCL)
|
ENSP00000512552.1:p.Ser271Leu
|
|
ENST00000696315.1:c.*503C>T
(FANCL)
|
ENSP00000512553.1:n.*503C>T
|
|
ENST00000696316.1:c.903+1264C>T
(FANCL)
|
ENSP00000512554.1:n.903+1264C>T
|
|
ENST00000696317.1:c.858C>T
(FANCL)
|
ENSP00000512555.1:p.Ile286=
|
|
ENST00000696318.1:c.368C>T
(FANCL)
|
ENSP00000512556.1:p.Ser123Leu
|
|
ENST00000696319.1:c.898C>T
(FANCL)
|
ENSP00000512557.1:p.Gln300Ter
|
|
ENST00000696320.1:n.2619C>T
(FANCL)
|
|
|
ENST00000696324.1:c.*390C>T
(FANCL)
|
ENSP00000512561.1:n.*390C>T
|
|
ENST00000696325.1:n.4023C>T
(FANCL)
|
|
|
ENST00000696326.1:c.1000C>T
(FANCL)
|
ENSP00000512562.1:p.Gln334Ter
|
|
ENST00000696338.1:n.1054C>T
(FANCL)
|
|
|
ENST00000696339.1:n.2512C>T
(FANCL)
|
|
|
ENST00000696340.1:n.3166C>T
(FANCL)
|
|
|
ENST00000696341.1:n.1448C>T
(FANCL)
|
|
|
ENST00000696342.1:c.*2170C>T
(FANCL)
|
ENSP00000512569.1:n.*2170C>T
|
|
ENST00000696343.1:n.2799C>T
(FANCL)
|
|
|
ENST00000696344.1:c.*654C>T
(FANCL)
|
ENSP00000512570.1:n.*654C>T
|
|
ENST00000696358.1:n.3613C>T
(FANCL)
|
|
|
ENST00000696359.1:n.3290C>T
(FANCL)
|
|
|
ENST00000696360.1:n.1725C>T
(FANCL)
|
|
|
ENST00000696361.1:c.*943C>T
(FANCL)
|
ENSP00000512579.1:n.*943C>T
|
|
ENST00000696362.1:c.*390C>T
(FANCL)
|
ENSP00000512580.1:n.*390C>T
|
|
ENST00000696363.1:n.2717C>T
(FANCL)
|
|
|
ENST00000696364.1:n.1333C>T
(FANCL)
|
|
|
ENST00000696371.1:c.931C>T
(FANCL)
|
ENSP00000512586.1:p.Gln311Ter
|
|
ENST00000696372.1:n.2029C>T
(FANCL)
|
|
|
ENST00000696373.1:c.*2170C>T
(FANCL)
|
ENSP00000512587.1:n.*2170C>T
|
|
ENST00000696374.1:c.*308C>T
(FANCL)
|
ENSP00000512588.1:n.*308C>T
|
|
ENST00000696375.1:n.7873C>T
(FANCL)
|
|
|
ENST00000696376.1:n.6726C>T
(FANCL)
|
|
|
ENST00000696378.1:c.*958C>T
(FANCL)
|
ENSP00000512589.1:n.*958C>T
|
|
ENST00000696394.1:n.4442C>T
(FANCL)
|
|
|
ENST00000696395.1:n.4381C>T
(FANCL)
|
|
|
ENST00000696396.1:n.2094C>T
(FANCL)
|
|
|
ENST00000696397.1:n.3065C>T
(FANCL)
|
|
|
ENST00000696398.1:c.*87C>T
(FANCL)
|
ENSP00000512604.1:n.*87C>T
|
|
ENST00000696399.1:n.2214C>T
(FANCL)
|
|
|
ENST00000696400.1:c.*704C>T
(FANCL)
|
ENSP00000512605.1:n.*704C>T
|
|
ENST00000696401.1:n.876C>T
(FANCL)
|
|
|
ENST00000696409.1:c.*457C>T
(FANCL)
|
ENSP00000512610.1:n.*457C>T
|
|
ENST00000696410.1:c.*421C>T
(FANCL)
|
ENSP00000512611.1:n.*421C>T
|
|
ENST00000696411.1:n.645C>T
(FANCL)
|
|
|
ENST00000696412.1:n.1439C>T
(FANCL)
|
|
|
ENST00000696413.1:n.942C>T
(FANCL)
|
|
|
ENST00000696414.1:n.1986C>T
(FANCL)
|
|
|
ENST00000696415.1:c.873C>T
(FANCL)
|
ENSP00000512612.1:p.Ile291=
|
|
ENST00000696416.1:n.948C>T
(FANCL)
|
|
|
ENST00000696432.1:n.3399C>T
(FANCL)
|
|
|
ENST00000696433.1:c.368C>T
(FANCL)
|
ENSP00000512627.1:p.Ser123Leu
|
|
ENST00000696434.1:c.778C>T
(FANCL)
|
ENSP00000512628.1:p.Gln260Ter
|
|
ENST00000696435.1:c.*87C>T
(FANCL)
|
ENSP00000512629.1:n.*87C>T
|
|
ENST00000696436.1:n.894C>T
(FANCL)
|
|
|
ENST00000696437.1:n.1357C>T
(FANCL)
|
|
|
ENST00000696438.1:c.*773C>T
(FANCL)
|
ENSP00000512630.1:n.*773C>T
|
|
ENST00000696439.1:n.2989C>T
(FANCL)
|
|
|
ENST00000696440.1:n.1976C>T
(FANCL)
|
|
|
ENST00000696454.1:c.*291C>T
(FANCL)
|
ENSP00000512641.1:n.*291C>T
|
|
ENST00000696455.1:c.650C>T
(FANCL)
|
ENSP00000512642.1:p.Ser217Leu
|
|
ENST00000696456.1:n.450C>T
(FANCL)
|
|
|
ENST00000696457.1:c.*1711C>T
(FANCL)
|
ENSP00000512643.1:n.*1711C>T
|
|
ENST00000696458.1:c.801C>T
(FANCL)
|
ENSP00000512644.1:p.Ile267=
|
|
ENST00000696459.1:c.*375C>T
(FANCL)
|
ENSP00000512645.1:n.*375C>T
|
|
ENST00000696460.1:n.1437C>T
(FANCL)
|
|
|
ENST00000696467.1:c.*436C>T
(FANCL)
|
ENSP00000512648.1:n.*436C>T
|
|
ENST00000696468.1:c.*432C>T
(FANCL)
|
ENSP00000512649.1:n.*432C>T
|
|
ENST00000696469.1:c.*87C>T
(FANCL)
|
ENSP00000512650.1:n.*87C>T
|
|
ENST00000696470.1:n.3108C>T
(FANCL)
|
|
|
ENST00000696471.1:n.610C>T
(FANCL)
|
|
|
ENST00000696472.1:c.827C>T
(FANCL)
|
ENSP00000512651.1:p.Ser276Leu
|
|
ENST00000696473.1:c.*623C>T
(FANCL)
|
ENSP00000512652.1:n.*623C>T
|
|
ENST00000696474.1:n.816C>T
(FANCL)
|
|
|
ENST00000696475.1:n.2448C>T
(FANCL)
|
|
|
ENST00000696492.1:c.*605C>T
(FANCL)
|
ENSP00000512662.1:n.*605C>T
|
|
ENST00000696493.1:c.*788C>T
(FANCL)
|
ENSP00000512663.1:n.*788C>T
|
|
ENST00000696494.1:n.972C>T
(FANCL)
|
|
|
ENST00000696495.1:c.*686C>T
(FANCL)
|
ENSP00000512664.1:n.*686C>T
|
|
ENST00000696496.1:n.1479C>T
(FANCL)
|
|
|
ENST00000696497.1:n.4237C>T
(FANCL)
|
|
|
ENST00000696498.1:n.1699C>T
(FANCL)
|
|
|
ENST00000696499.1:c.*377C>T
(FANCL)
|
ENSP00000512665.1:n.*377C>T
|
|
ENST00000696508.1:c.*495C>T
(FANCL)
|
ENSP00000512674.1:n.*495C>T
|
|
ENST00000696509.1:c.*817C>T
(FANCL)
|
ENSP00000512675.1:n.*817C>T
|
|
ENST00000696510.1:c.412C>T
(FANCL)
|
ENSP00000512676.1:p.Gln138Ter
|
|
ENST00000696527.1:c.812C>T
(FANCL)
|
ENSP00000512690.1:p.Ser271Leu
|
|
ENST00000696528.1:c.755C>T
(FANCL)
|
ENSP00000512691.1:p.Ser252Leu
|
|
ENST00000696529.1:n.803C>T
(FANCL)
|
|
|
ENST00000696530.1:c.736C>T
(FANCL)
|
ENSP00000512692.1:p.Gln246Ter
|
|
ENST00000696531.1:c.*472C>T
(FANCL)
|
ENSP00000512693.1:n.*472C>T
|
|
ENST00000696532.1:n.2087C>T
(FANCL)
|
|
|
ENST00000696542.1:n.878C>T
(FANCL)
|
|
|
ENST00000696543.1:c.635C>T
(FANCL)
|
ENSP00000512703.1:p.Ser212Leu
|
|
ENST00000696544.1:c.692C>T
(FANCL)
|
ENSP00000512704.1:p.Ser231Leu
|
|
ENST00000696545.1:c.*608C>T
(FANCL)
|
ENSP00000512705.1:n.*608C>T
|
|
ENST00000696546.1:c.*719C>T
(FANCL)
|
ENSP00000512706.1:n.*719C>T
|
|
ENST00000696547.1:c.928C>T
(FANCL)
|
ENSP00000512707.1:p.Gln310Ter
|
|
ENST00000696548.1:c.*1144C>T
(FANCL)
|
ENSP00000512708.1:n.*1144C>T
|
|
ENST00000696564.1:c.857C>T
(FANCL)
|
ENSP00000512722.1:p.Ser286Leu
|
|
ENST00000696565.1:c.872C>T
(FANCL)
|
ENSP00000512723.1:p.Ser291Leu
|
|
ENST00000696566.1:n.3528C>T
(FANCL)
|
|
|
ENST00000696567.1:c.835C>T
(FANCL)
|
ENSP00000512724.1:p.Gln279Ter
|
|
ENST00000696569.1:n.1049C>T
(FANCL)
|
|
|
ENST00000696570.1:c.*262C>T
(FANCL)
|
ENSP00000512725.1:n.*262C>T
|
|
ENST00000696619.1:n.2496C>T
(FANCL)
|
|
|
ENST00000696620.1:c.532C>T
(FANCL)
|
ENSP00000512759.1:p.Gln178Ter
|
|
ENST00000696621.1:c.*87C>T
(FANCL)
|
ENSP00000512760.1:n.*87C>T
|
|
ENST00000696622.1:n.2671C>T
(FANCL)
|
|
|
ENST00000696623.1:n.906C>T
(FANCL)
|
|
|
ENST00000696624.1:c.871C>T
(FANCL)
|
ENSP00000512761.1:p.Gln291Ter
|
|
ENST00000696625.1:c.*390C>T
(FANCL)
|
ENSP00000512762.1:n.*390C>T
|
|
ENST00000696634.1:c.653C>T
(FANCL)
|
ENSP00000512770.1:n.653C>T
|
|
ENST00000696635.1:c.916C>T
(FANCL)
|
ENSP00000512771.1:p.Gln306Ter
|
|
ENST00000696636.1:n.3392C>T
(FANCL)
|
|
|
ENST00000696637.1:n.8013C>T
(FANCL)
|
|
|
ENST00000696638.1:n.955C>T
(FANCL)
|
|
|
ENST00000696639.1:n.3018C>T
(FANCL)
|
|
|
XM_005264395.2:c.940C>T
(FANCL)
|
XP_005264452.1:p.Gln314Ter
|
|
XM_005264395.4:c.940C>T
(FANCL)
|
XP_005264452.1:p.Gln314Ter
|
|
XM_005264397.3:c.589C>T
(FANCL)
|
XP_005264454.1:p.Gln197Ter
|
|
XM_005264540.4:c.*1909G>A
(VRK2)
|
XP_005264597.1:n.*1909G>A
|
|
XM_006712092.4:c.*1909G>A
(VRK2)
|
XP_006712155.1:n.*1909G>A
|
|
XM_006712093.4:c.*1909G>A
(VRK2)
|
XP_006712156.1:n.*1909G>A
|
|
XM_011532939.1:c.1000C>T
(FANCL)
|
XP_011531241.1:p.Gln334Ter
|
|
XM_011532939.3:c.1000C>T
(FANCL)
|
XP_011531241.1:p.Gln334Ter
|
|
XM_011532940.1:c.985C>T
(FANCL)
|
XP_011531242.1:p.Gln329Ter
|
|
XM_011532940.3:c.985C>T
(FANCL)
|
XP_011531242.1:p.Gln329Ter
|
|
XM_011532941.1:c.1000C>T
(FANCL)
|
XP_011531243.1:p.Gln334Ter
|
|
XM_011532941.2:c.1000C>T
(FANCL)
|
XP_011531243.1:p.Gln334Ter
|
|
XM_011532942.1:c.955C>T
(FANCL)
|
XP_011531244.1:p.Gln319Ter
|
|
XM_011532942.3:c.955C>T
(FANCL)
|
XP_011531244.1:p.Gln319Ter
|
|
XM_011532943.1:c.1201C>T
(FANCL)
|
XP_011531245.1:p.Gln401Ter
|
|
XM_011532944.1:c.649C>T
(FANCL)
|
XP_011531246.1:p.Gln217Ter
|
|
XM_011532944.2:c.649C>T
(FANCL)
|
XP_011531246.1:p.Gln217Ter
|
|
XM_011532945.1:c.604C>T
(FANCL)
|
XP_011531247.1:p.Gln202Ter
|
|
XM_011532945.2:c.604C>T
(FANCL)
|
XP_011531247.1:p.Gln202Ter
|
|
XM_011533092.3:c.*1909G>A
(VRK2)
|
XP_011531394.1:n.*1909G>A
|
|
XM_017004414.2:c.985C>T
(FANCL)
|
XP_016859903.1:p.Gln329Ter
|
|
XM_017004416.1:c.589C>T
(FANCL)
|
XP_016859905.1:p.Gln197Ter
|
|
XM_017004859.2:c.*1909G>A
(VRK2)
|
XP_016860348.1:n.*1909G>A
|
|
XM_017004860.2:c.*1909G>A
(VRK2)
|
XP_016860349.1:n.*1909G>A
|
|
XM_017004861.2:c.*1909G>A
(VRK2)
|
XP_016860350.1:n.*1909G>A
|
|
XM_017004862.2:c.*1909G>A
(VRK2)
|
XP_016860351.1:n.*1909G>A
|
|
XM_017004863.2:c.*1909G>A
(VRK2)
|
XP_016860352.1:n.*1909G>A
|
|
XM_017004864.2:c.*2286G>A
(VRK2)
|
XP_016860353.1:n.*2286G>A
|
|
XM_017004865.1:c.*2294G>A
(VRK2)
|
XP_016860354.1:n.*2294G>A
|
|
XM_017004866.1:c.*2294G>A
(VRK2)
|
XP_016860355.1:n.*2294G>A
|
|
XR_001738802.2:n.886C>T
(FANCL)
|
|
|
XR_001738803.2:n.871C>T
(FANCL)
|
|
|
XR_002959309.1:n.1582C>T
(FANCL)
|
|
|
XR_939692.1:n.939C>T
(FANCL)
|
|
|
XR_939692.2:n.931C>T
(FANCL)
|
|
