|
NM_018062.4:c.934G>T
(FANCL)
MANE Select
|
NP_060532.2:p.Ala312Ser
|
|
ENST00000233741.9:c.934G>T
(FANCL)
MANE Select
|
ENSP00000233741.5:p.Ala312Ser
|
|
NM_001114636.1:c.949G>T , LRG_501t1:c.949G>T
(FANCL)
|
NP_001108108.1:p.Ala317Ser
|
|
NM_001374615.1:c.979G>T
(FANCL)
|
NP_001361544.1:p.Ala327Ser
|
|
NM_018062.3:c.934G>T , LRG_501t2:c.934G>T
(FANCL)
|
NP_060532.2:p.Ala312Ser
|
|
NR_156742.1:n.723G>T
(FANCL)
|
|
|
NR_164659.1:n.815G>T
(FANCL)
|
|
|
ENST00000233741.8:c.934G>T
(FANCL)
|
ENSP00000233741.4:p.Ala312Ser
|
|
ENST00000402135.7:c.949G>T
(FANCL)
|
ENSP00000385021.3:p.Ala317Ser
|
|
ENST00000402135.8:c.949G>T
(FANCL)
|
ENSP00000385021.3:p.Ala317Ser
|
|
ENST00000403295.7:c.850G>T
(FANCL)
|
ENSP00000386097.3:p.Ala284Ser
|
|
ENST00000403295.8:c.850G>T
(FANCL)
|
ENSP00000386097.3:p.Ala284Ser
|
|
ENST00000403676.5:c.583G>T
(FANCL)
|
ENSP00000384046.1:p.Ala195Ser
|
|
ENST00000403676.6:c.*497G>T
(FANCL)
|
ENSP00000384046.2:n.*497G>T
|
|
ENST00000417361.2:c.*512G>T
(FANCL)
|
ENSP00000389448.2:n.*512G>T
|
|
ENST00000427708.7:c.979G>T
(FANCL)
|
ENSP00000400969.3:p.Ala327Ser
|
|
ENST00000446381.6:c.490G>T
(FANCL)
|
ENSP00000390991.2:p.Ala164Ser
|
|
ENST00000449070.5:c.757G>T
(FANCL)
|
ENSP00000401280.1:p.Ala253Ser
|
|
ENST00000449070.6:c.757G>T
(FANCL)
|
ENSP00000401280.2:p.Ala253Ser
|
|
ENST00000470506.2:n.1448G>T
(FANCL)
|
|
|
ENST00000696305.1:c.877G>T
(FANCL)
|
ENSP00000512543.1:p.Ala293Ser
|
|
ENST00000696306.1:c.*824G>T
(FANCL)
|
ENSP00000512544.1:n.*824G>T
|
|
ENST00000696307.1:c.919G>T
(FANCL)
|
ENSP00000512545.1:p.Ala307Ser
|
|
ENST00000696314.1:c.806G>T
(FANCL)
|
ENSP00000512552.1:p.Cys269Phe
|
|
ENST00000696315.1:c.*497G>T
(FANCL)
|
ENSP00000512553.1:n.*497G>T
|
|
ENST00000696316.1:c.903+1258G>T
(FANCL)
|
ENSP00000512554.1:n.903+1258G>T
|
|
ENST00000696317.1:c.852G>T
(FANCL)
|
ENSP00000512555.1:p.Met284Ile
|
|
ENST00000696318.1:c.362G>T
(FANCL)
|
ENSP00000512556.1:p.Cys121Phe
|
|
ENST00000696319.1:c.892G>T
(FANCL)
|
ENSP00000512557.1:p.Ala298Ser
|
|
ENST00000696320.1:n.2613G>T
(FANCL)
|
|
|
ENST00000696324.1:c.*384G>T
(FANCL)
|
ENSP00000512561.1:n.*384G>T
|
|
ENST00000696325.1:n.4017G>T
(FANCL)
|
|
|
ENST00000696326.1:c.994G>T
(FANCL)
|
ENSP00000512562.1:p.Ala332Ser
|
|
ENST00000696338.1:n.1048G>T
(FANCL)
|
|
|
ENST00000696339.1:n.2506G>T
(FANCL)
|
|
|
ENST00000696340.1:n.3160G>T
(FANCL)
|
|
|
ENST00000696341.1:n.1442G>T
(FANCL)
|
|
|
ENST00000696342.1:c.*2164G>T
(FANCL)
|
ENSP00000512569.1:n.*2164G>T
|
|
ENST00000696343.1:n.2793G>T
(FANCL)
|
|
|
ENST00000696344.1:c.*648G>T
(FANCL)
|
ENSP00000512570.1:n.*648G>T
|
|
ENST00000696358.1:n.3607G>T
(FANCL)
|
|
|
ENST00000696359.1:n.3284G>T
(FANCL)
|
|
|
ENST00000696360.1:n.1719G>T
(FANCL)
|
|
|
ENST00000696361.1:c.*937G>T
(FANCL)
|
ENSP00000512579.1:n.*937G>T
|
|
ENST00000696362.1:c.*384G>T
(FANCL)
|
ENSP00000512580.1:n.*384G>T
|
|
ENST00000696363.1:n.2711G>T
(FANCL)
|
|
|
ENST00000696364.1:n.1327G>T
(FANCL)
|
|
|
ENST00000696371.1:c.925G>T
(FANCL)
|
ENSP00000512586.1:p.Ala309Ser
|
|
ENST00000696372.1:n.2023G>T
(FANCL)
|
|
|
ENST00000696373.1:c.*2164G>T
(FANCL)
|
ENSP00000512587.1:n.*2164G>T
|
|
ENST00000696374.1:c.*302G>T
(FANCL)
|
ENSP00000512588.1:n.*302G>T
|
|
ENST00000696375.1:n.7867G>T
(FANCL)
|
|
|
ENST00000696376.1:n.6720G>T
(FANCL)
|
|
|
ENST00000696378.1:c.*952G>T
(FANCL)
|
ENSP00000512589.1:n.*952G>T
|
|
ENST00000696394.1:n.4436G>T
(FANCL)
|
|
|
ENST00000696395.1:n.4375G>T
(FANCL)
|
|
|
ENST00000696396.1:n.2088G>T
(FANCL)
|
|
|
ENST00000696397.1:n.3059G>T
(FANCL)
|
|
|
ENST00000696398.1:c.*81G>T
(FANCL)
|
ENSP00000512604.1:n.*81G>T
|
|
ENST00000696399.1:n.2208G>T
(FANCL)
|
|
|
ENST00000696400.1:c.*698G>T
(FANCL)
|
ENSP00000512605.1:n.*698G>T
|
|
ENST00000696401.1:n.870G>T
(FANCL)
|
|
|
ENST00000696409.1:c.*451G>T
(FANCL)
|
ENSP00000512610.1:n.*451G>T
|
|
ENST00000696410.1:c.*415G>T
(FANCL)
|
ENSP00000512611.1:n.*415G>T
|
|
ENST00000696411.1:n.639G>T
(FANCL)
|
|
|
ENST00000696412.1:n.1433G>T
(FANCL)
|
|
|
ENST00000696413.1:n.936G>T
(FANCL)
|
|
|
ENST00000696414.1:n.1980G>T
(FANCL)
|
|
|
ENST00000696415.1:c.867G>T
(FANCL)
|
ENSP00000512612.1:p.Met289Ile
|
|
ENST00000696416.1:n.942G>T
(FANCL)
|
|
|
ENST00000696432.1:n.3393G>T
(FANCL)
|
|
|
ENST00000696433.1:c.362G>T
(FANCL)
|
ENSP00000512627.1:p.Cys121Phe
|
|
ENST00000696434.1:c.772G>T
(FANCL)
|
ENSP00000512628.1:p.Ala258Ser
|
|
ENST00000696435.1:c.*81G>T
(FANCL)
|
ENSP00000512629.1:n.*81G>T
|
|
ENST00000696436.1:n.888G>T
(FANCL)
|
|
|
ENST00000696437.1:n.1351G>T
(FANCL)
|
|
|
ENST00000696438.1:c.*767G>T
(FANCL)
|
ENSP00000512630.1:n.*767G>T
|
|
ENST00000696439.1:n.2983G>T
(FANCL)
|
|
|
ENST00000696440.1:n.1970G>T
(FANCL)
|
|
|
ENST00000696454.1:c.*285G>T
(FANCL)
|
ENSP00000512641.1:n.*285G>T
|
|
ENST00000696455.1:c.644G>T
(FANCL)
|
ENSP00000512642.1:p.Cys215Phe
|
|
ENST00000696456.1:n.444G>T
(FANCL)
|
|
|
ENST00000696457.1:c.*1705G>T
(FANCL)
|
ENSP00000512643.1:n.*1705G>T
|
|
ENST00000696458.1:c.795G>T
(FANCL)
|
ENSP00000512644.1:p.Met265Ile
|
|
ENST00000696459.1:c.*369G>T
(FANCL)
|
ENSP00000512645.1:n.*369G>T
|
|
ENST00000696460.1:n.1431G>T
(FANCL)
|
|
|
ENST00000696467.1:c.*430G>T
(FANCL)
|
ENSP00000512648.1:n.*430G>T
|
|
ENST00000696468.1:c.*426G>T
(FANCL)
|
ENSP00000512649.1:n.*426G>T
|
|
ENST00000696469.1:c.*81G>T
(FANCL)
|
ENSP00000512650.1:n.*81G>T
|
|
ENST00000696470.1:n.3102G>T
(FANCL)
|
|
|
ENST00000696471.1:n.604G>T
(FANCL)
|
|
|
ENST00000696472.1:c.821G>T
(FANCL)
|
ENSP00000512651.1:p.Cys274Phe
|
|
ENST00000696473.1:c.*617G>T
(FANCL)
|
ENSP00000512652.1:n.*617G>T
|
|
ENST00000696474.1:n.810G>T
(FANCL)
|
|
|
ENST00000696475.1:n.2442G>T
(FANCL)
|
|
|
ENST00000696492.1:c.*599G>T
(FANCL)
|
ENSP00000512662.1:n.*599G>T
|
|
ENST00000696493.1:c.*782G>T
(FANCL)
|
ENSP00000512663.1:n.*782G>T
|
|
ENST00000696494.1:n.966G>T
(FANCL)
|
|
|
ENST00000696495.1:c.*680G>T
(FANCL)
|
ENSP00000512664.1:n.*680G>T
|
|
ENST00000696496.1:n.1473G>T
(FANCL)
|
|
|
ENST00000696497.1:n.4231G>T
(FANCL)
|
|
|
ENST00000696498.1:n.1693G>T
(FANCL)
|
|
|
ENST00000696499.1:c.*371G>T
(FANCL)
|
ENSP00000512665.1:n.*371G>T
|
|
ENST00000696508.1:c.*489G>T
(FANCL)
|
ENSP00000512674.1:n.*489G>T
|
|
ENST00000696509.1:c.*811G>T
(FANCL)
|
ENSP00000512675.1:n.*811G>T
|
|
ENST00000696510.1:c.406G>T
(FANCL)
|
ENSP00000512676.1:p.Ala136Ser
|
|
ENST00000696527.1:c.806G>T
(FANCL)
|
ENSP00000512690.1:p.Cys269Phe
|
|
ENST00000696528.1:c.749G>T
(FANCL)
|
ENSP00000512691.1:p.Cys250Phe
|
|
ENST00000696529.1:n.797G>T
(FANCL)
|
|
|
ENST00000696530.1:c.730G>T
(FANCL)
|
ENSP00000512692.1:p.Ala244Ser
|
|
ENST00000696531.1:c.*466G>T
(FANCL)
|
ENSP00000512693.1:n.*466G>T
|
|
ENST00000696532.1:n.2081G>T
(FANCL)
|
|
|
ENST00000696542.1:n.872G>T
(FANCL)
|
|
|
ENST00000696543.1:c.629G>T
(FANCL)
|
ENSP00000512703.1:p.Cys210Phe
|
|
ENST00000696544.1:c.686G>T
(FANCL)
|
ENSP00000512704.1:p.Cys229Phe
|
|
ENST00000696545.1:c.*602G>T
(FANCL)
|
ENSP00000512705.1:n.*602G>T
|
|
ENST00000696546.1:c.*713G>T
(FANCL)
|
ENSP00000512706.1:n.*713G>T
|
|
ENST00000696547.1:c.922G>T
(FANCL)
|
ENSP00000512707.1:p.Ala308Ser
|
|
ENST00000696548.1:c.*1138G>T
(FANCL)
|
ENSP00000512708.1:n.*1138G>T
|
|
ENST00000696564.1:c.851G>T
(FANCL)
|
ENSP00000512722.1:p.Cys284Phe
|
|
ENST00000696565.1:c.866G>T
(FANCL)
|
ENSP00000512723.1:p.Cys289Phe
|
|
ENST00000696566.1:n.3522G>T
(FANCL)
|
|
|
ENST00000696567.1:c.829G>T
(FANCL)
|
ENSP00000512724.1:p.Ala277Ser
|
|
ENST00000696569.1:n.1043G>T
(FANCL)
|
|
|
ENST00000696570.1:c.*256G>T
(FANCL)
|
ENSP00000512725.1:n.*256G>T
|
|
ENST00000696619.1:n.2490G>T
(FANCL)
|
|
|
ENST00000696620.1:c.526G>T
(FANCL)
|
ENSP00000512759.1:p.Ala176Ser
|
|
ENST00000696621.1:c.*81G>T
(FANCL)
|
ENSP00000512760.1:n.*81G>T
|
|
ENST00000696622.1:n.2665G>T
(FANCL)
|
|
|
ENST00000696623.1:n.900G>T
(FANCL)
|
|
|
ENST00000696624.1:c.865G>T
(FANCL)
|
ENSP00000512761.1:p.Ala289Ser
|
|
ENST00000696625.1:c.*384G>T
(FANCL)
|
ENSP00000512762.1:n.*384G>T
|
|
ENST00000696634.1:c.647G>T
(FANCL)
|
ENSP00000512770.1:n.647G>T
|
|
ENST00000696635.1:c.910G>T
(FANCL)
|
ENSP00000512771.1:p.Ala304Ser
|
|
ENST00000696636.1:n.3386G>T
(FANCL)
|
|
|
ENST00000696637.1:n.8007G>T
(FANCL)
|
|
|
ENST00000696638.1:n.949G>T
(FANCL)
|
|
|
ENST00000696639.1:n.3012G>T
(FANCL)
|
|
|
XM_005264395.2:c.934G>T
(FANCL)
|
XP_005264452.1:p.Ala312Ser
|
|
XM_005264395.4:c.934G>T
(FANCL)
|
XP_005264452.1:p.Ala312Ser
|
|
XM_005264397.3:c.583G>T
(FANCL)
|
XP_005264454.1:p.Ala195Ser
|
|
XM_005264540.4:c.*1915C>A
(VRK2)
|
XP_005264597.1:n.*1915C>A
|
|
XM_006712092.4:c.*1915C>A
(VRK2)
|
XP_006712155.1:n.*1915C>A
|
|
XM_006712093.4:c.*1915C>A
(VRK2)
|
XP_006712156.1:n.*1915C>A
|
|
XM_011532939.1:c.994G>T
(FANCL)
|
XP_011531241.1:p.Ala332Ser
|
|
XM_011532939.3:c.994G>T
(FANCL)
|
XP_011531241.1:p.Ala332Ser
|
|
XM_011532940.1:c.979G>T
(FANCL)
|
XP_011531242.1:p.Ala327Ser
|
|
XM_011532940.3:c.979G>T
(FANCL)
|
XP_011531242.1:p.Ala327Ser
|
|
XM_011532941.1:c.994G>T
(FANCL)
|
XP_011531243.1:p.Ala332Ser
|
|
XM_011532941.2:c.994G>T
(FANCL)
|
XP_011531243.1:p.Ala332Ser
|
|
XM_011532942.1:c.949G>T
(FANCL)
|
XP_011531244.1:p.Ala317Ser
|
|
XM_011532942.3:c.949G>T
(FANCL)
|
XP_011531244.1:p.Ala317Ser
|
|
XM_011532943.1:c.1195G>T
(FANCL)
|
XP_011531245.1:p.Ala399Ser
|
|
XM_011532944.1:c.643G>T
(FANCL)
|
XP_011531246.1:p.Ala215Ser
|
|
XM_011532944.2:c.643G>T
(FANCL)
|
XP_011531246.1:p.Ala215Ser
|
|
XM_011532945.1:c.598G>T
(FANCL)
|
XP_011531247.1:p.Ala200Ser
|
|
XM_011532945.2:c.598G>T
(FANCL)
|
XP_011531247.1:p.Ala200Ser
|
|
XM_011533092.3:c.*1915C>A
(VRK2)
|
XP_011531394.1:n.*1915C>A
|
|
XM_017004414.2:c.979G>T
(FANCL)
|
XP_016859903.1:p.Ala327Ser
|
|
XM_017004416.1:c.583G>T
(FANCL)
|
XP_016859905.1:p.Ala195Ser
|
|
XM_017004859.2:c.*1915C>A
(VRK2)
|
XP_016860348.1:n.*1915C>A
|
|
XM_017004860.2:c.*1915C>A
(VRK2)
|
XP_016860349.1:n.*1915C>A
|
|
XM_017004861.2:c.*1915C>A
(VRK2)
|
XP_016860350.1:n.*1915C>A
|
|
XM_017004862.2:c.*1915C>A
(VRK2)
|
XP_016860351.1:n.*1915C>A
|
|
XM_017004863.2:c.*1915C>A
(VRK2)
|
XP_016860352.1:n.*1915C>A
|
|
XM_017004864.2:c.*2292C>A
(VRK2)
|
XP_016860353.1:n.*2292C>A
|
|
XM_017004865.1:c.*2300C>A
(VRK2)
|
XP_016860354.1:n.*2300C>A
|
|
XM_017004866.1:c.*2300C>A
(VRK2)
|
XP_016860355.1:n.*2300C>A
|
|
XR_001738802.2:n.880G>T
(FANCL)
|
|
|
XR_001738803.2:n.865G>T
(FANCL)
|
|
|
XR_002959309.1:n.1576G>T
(FANCL)
|
|
|
XR_939692.1:n.933G>T
(FANCL)
|
|
|
XR_939692.2:n.925G>T
(FANCL)
|
|
