|
ENST00000402135.8:c.1037G>T
(FANCL)
|
ENSP00000385021.3:p.Trp346Leu
|
|
|
ENST00000403295.8:c.938G>T
(FANCL)
|
ENSP00000386097.3:p.Trp313Leu
|
|
|
ENST00000403676.6:c.*585G>T
(FANCL)
|
ENSP00000384046.2:n.*585G>T
|
|
|
ENST00000417361.2:c.*600G>T
(FANCL)
|
ENSP00000389448.2:n.*600G>T
|
|
|
ENST00000427708.7:c.1067G>T
(FANCL)
|
ENSP00000400969.3:p.Trp356Leu
|
|
|
ENST00000446381.6:c.578G>T
(FANCL)
|
ENSP00000390991.2:p.Trp193Leu
|
|
|
ENST00000449070.6:c.845G>T
(FANCL)
|
ENSP00000401280.2:p.Trp282Leu
|
|
|
ENST00000470506.2:n.1536G>T
(FANCL)
|
|
|
|
ENST00000696305.1:c.965G>T
(FANCL)
|
ENSP00000512543.1:p.Trp322Leu
|
|
|
ENST00000696306.1:c.*912G>T
(FANCL)
|
ENSP00000512544.1:n.*912G>T
|
|
|
ENST00000696307.1:c.1007G>T
(FANCL)
|
ENSP00000512545.1:p.Trp336Leu
|
|
|
ENST00000696314.1:c.*75G>T
(FANCL)
|
ENSP00000512552.1:n.*75G>T
|
|
|
ENST00000696315.1:c.*585G>T
(FANCL)
|
ENSP00000512553.1:n.*585G>T
|
|
|
ENST00000696316.1:c.905G>T
(FANCL)
|
ENSP00000512554.1:p.Trp302Leu
|
|
|
ENST00000696317.1:c.940G>T
(FANCL)
|
ENSP00000512555.1:p.Gly314Cys
|
|
|
ENST00000696318.1:c.*75G>T
(FANCL)
|
ENSP00000512556.1:n.*75G>T
|
|
|
ENST00000696319.1:c.980G>T
(FANCL)
|
ENSP00000512557.1:p.Trp327Leu
|
|
|
ENST00000696320.1:n.2701G>T
(FANCL)
|
|
|
|
ENST00000696324.1:c.*472G>T
(FANCL)
|
ENSP00000512561.1:n.*472G>T
|
|
|
ENST00000696325.1:n.4105G>T
(FANCL)
|
|
|
|
ENST00000696326.1:c.1082G>T
(FANCL)
|
ENSP00000512562.1:p.Trp361Leu
|
|
|
ENST00000696338.1:n.1136G>T
(FANCL)
|
|
|
|
ENST00000696339.1:n.2594G>T
(FANCL)
|
|
|
|
ENST00000696340.1:n.3248G>T
(FANCL)
|
|
|
|
ENST00000696341.1:n.1530G>T
(FANCL)
|
|
|
|
ENST00000696342.1:c.*2252G>T
(FANCL)
|
ENSP00000512569.1:n.*2252G>T
|
|
|
ENST00000696343.1:n.2881G>T
(FANCL)
|
|
|
|
ENST00000696344.1:c.*736G>T
(FANCL)
|
ENSP00000512570.1:n.*736G>T
|
|
|
ENST00000696358.1:n.3695G>T
(FANCL)
|
|
|
|
ENST00000696359.1:n.3372G>T
(FANCL)
|
|
|
|
ENST00000696360.1:n.1807G>T
(FANCL)
|
|
|
|
ENST00000696361.1:c.*1025G>T
(FANCL)
|
ENSP00000512579.1:n.*1025G>T
|
|
|
ENST00000696362.1:c.*472G>T
(FANCL)
|
ENSP00000512580.1:n.*472G>T
|
|
|
ENST00000696363.1:n.2799G>T
(FANCL)
|
|
|
|
ENST00000696364.1:n.1415G>T
(FANCL)
|
|
|
|
ENST00000696371.1:c.1013G>T
(FANCL)
|
ENSP00000512586.1:p.Trp338Leu
|
|
|
ENST00000696372.1:n.2111G>T
(FANCL)
|
|
|
|
ENST00000696373.1:c.*2252G>T
(FANCL)
|
ENSP00000512587.1:n.*2252G>T
|
|
|
ENST00000696374.1:c.*390G>T
(FANCL)
|
ENSP00000512588.1:n.*390G>T
|
|
|
ENST00000696375.1:n.7955G>T
(FANCL)
|
|
|
|
ENST00000696376.1:n.6808G>T
(FANCL)
|
|
|
|
ENST00000696378.1:c.*1040G>T
(FANCL)
|
ENSP00000512589.1:n.*1040G>T
|
|
|
ENST00000696394.1:n.4524G>T
(FANCL)
|
|
|
|
ENST00000696395.1:n.4463G>T
(FANCL)
|
|
|
|
ENST00000696396.1:n.2176G>T
(FANCL)
|
|
|
|
ENST00000696397.1:n.3147G>T
(FANCL)
|
|
|
|
ENST00000696398.1:c.*169G>T
(FANCL)
|
ENSP00000512604.1:n.*169G>T
|
|
|
ENST00000696399.1:n.2296G>T
(FANCL)
|
|
|
|
ENST00000696400.1:c.*786G>T
(FANCL)
|
ENSP00000512605.1:n.*786G>T
|
|
|
ENST00000696409.1:c.*539G>T
(FANCL)
|
ENSP00000512610.1:n.*539G>T
|
|
|
ENST00000696410.1:c.*503G>T
(FANCL)
|
ENSP00000512611.1:n.*503G>T
|
|
|
ENST00000696411.1:n.727G>T
(FANCL)
|
|
|
|
ENST00000696412.1:n.1521G>T
(FANCL)
|
|
|
|
ENST00000696413.1:n.1024G>T
(FANCL)
|
|
|
|
ENST00000696414.1:n.2068G>T
(FANCL)
|
|
|
|
ENST00000696415.1:c.955G>T
(FANCL)
|
ENSP00000512612.1:p.Gly319Cys
|
|
|
ENST00000696416.1:n.1030G>T
(FANCL)
|
|
|
|
ENST00000696432.1:n.3481G>T
(FANCL)
|
|
|
|
ENST00000696433.1:c.*75G>T
(FANCL)
|
ENSP00000512627.1:n.*75G>T
|
|
|
ENST00000696434.1:c.860G>T
(FANCL)
|
ENSP00000512628.1:p.Trp287Leu
|
|
|
ENST00000696435.1:c.*169G>T
(FANCL)
|
ENSP00000512629.1:n.*169G>T
|
|
|
ENST00000696436.1:n.976G>T
(FANCL)
|
|
|
|
ENST00000696437.1:n.1439G>T
(FANCL)
|
|
|
|
ENST00000696438.1:c.*855G>T
(FANCL)
|
ENSP00000512630.1:n.*855G>T
|
|
|
ENST00000696439.1:n.3071G>T
(FANCL)
|
|
|
|
ENST00000696440.1:n.2058G>T
(FANCL)
|
|
|
|
ENST00000696454.1:c.*373G>T
(FANCL)
|
ENSP00000512641.1:n.*373G>T
|
|
|
ENST00000696455.1:c.*75G>T
(FANCL)
|
ENSP00000512642.1:n.*75G>T
|
|
|
ENST00000696456.1:n.532G>T
(FANCL)
|
|
|
|
ENST00000696457.1:c.*1793G>T
(FANCL)
|
ENSP00000512643.1:n.*1793G>T
|
|
|
ENST00000696458.1:c.883G>T
(FANCL)
|
ENSP00000512644.1:p.Gly295Cys
|
|
|
ENST00000696459.1:c.*457G>T
(FANCL)
|
ENSP00000512645.1:n.*457G>T
|
|
|
ENST00000696460.1:n.1519G>T
(FANCL)
|
|
|
|
ENST00000696467.1:c.*518G>T
(FANCL)
|
ENSP00000512648.1:n.*518G>T
|
|
|
ENST00000696468.1:c.*514G>T
(FANCL)
|
ENSP00000512649.1:n.*514G>T
|
|
|
ENST00000696469.1:c.*169G>T
(FANCL)
|
ENSP00000512650.1:n.*169G>T
|
|
|
ENST00000696470.1:n.3190G>T
(FANCL)
|
|
|
|
ENST00000696471.1:n.692G>T
(FANCL)
|
|
|
|
ENST00000696472.1:c.*75G>T
(FANCL)
|
ENSP00000512651.1:n.*75G>T
|
|
|
ENST00000696473.1:c.*705G>T
(FANCL)
|
ENSP00000512652.1:n.*705G>T
|
|
|
ENST00000696474.1:n.898G>T
(FANCL)
|
|
|
|
ENST00000696475.1:n.2530G>T
(FANCL)
|
|
|
|
ENST00000696492.1:c.*687G>T
(FANCL)
|
ENSP00000512662.1:n.*687G>T
|
|
|
ENST00000696493.1:c.*870G>T
(FANCL)
|
ENSP00000512663.1:n.*870G>T
|
|
|
ENST00000696494.1:n.1054G>T
(FANCL)
|
|
|
|
ENST00000696495.1:c.*768G>T
(FANCL)
|
ENSP00000512664.1:n.*768G>T
|
|
|
ENST00000696496.1:n.1561G>T
(FANCL)
|
|
|
|
ENST00000696497.1:n.4319G>T
(FANCL)
|
|
|
|
ENST00000696498.1:n.1781G>T
(FANCL)
|
|
|
|
ENST00000696499.1:c.*459G>T
(FANCL)
|
ENSP00000512665.1:n.*459G>T
|
|
|
ENST00000696508.1:c.*577G>T
(FANCL)
|
ENSP00000512674.1:n.*577G>T
|
|
|
ENST00000696509.1:c.*899G>T
(FANCL)
|
ENSP00000512675.1:n.*899G>T
|
|
|
ENST00000696510.1:c.494G>T
(FANCL)
|
ENSP00000512676.1:p.Trp165Leu
|
|
|
ENST00000696527.1:c.*75G>T
(FANCL)
|
ENSP00000512690.1:n.*75G>T
|
|
|
ENST00000696528.1:c.*75G>T
(FANCL)
|
ENSP00000512691.1:n.*75G>T
|
|
|
ENST00000696529.1:n.885G>T
(FANCL)
|
|
|
|
ENST00000696530.1:c.818G>T
(FANCL)
|
ENSP00000512692.1:p.Trp273Leu
|
|
|
ENST00000696531.1:c.*554G>T
(FANCL)
|
ENSP00000512693.1:n.*554G>T
|
|
|
ENST00000696532.1:n.2169G>T
(FANCL)
|
|
|
|
ENST00000696542.1:n.960G>T
(FANCL)
|
|
|
|
ENST00000696543.1:c.*75G>T
(FANCL)
|
ENSP00000512703.1:n.*75G>T
|
|
|
ENST00000696544.1:c.*75G>T
(FANCL)
|
ENSP00000512704.1:n.*75G>T
|
|
|
ENST00000696545.1:c.*690G>T
(FANCL)
|
ENSP00000512705.1:n.*690G>T
|
|
|
ENST00000696546.1:c.*801G>T
(FANCL)
|
ENSP00000512706.1:n.*801G>T
|
|
|
ENST00000696547.1:c.1010G>T
(FANCL)
|
ENSP00000512707.1:p.Trp337Leu
|
|
|
ENST00000696548.1:c.*1226G>T
(FANCL)
|
ENSP00000512708.1:n.*1226G>T
|
|
|
ENST00000696564.1:c.*75G>T
(FANCL)
|
ENSP00000512722.1:n.*75G>T
|
|
|
ENST00000696565.1:c.*75G>T
(FANCL)
|
ENSP00000512723.1:n.*75G>T
|
|
|
ENST00000696566.1:n.3610G>T
(FANCL)
|
|
|
|
ENST00000696567.1:c.917G>T
(FANCL)
|
ENSP00000512724.1:p.Trp306Leu
|
|
|
ENST00000696568.1:n.448G>T
(FANCL)
|
|
|
|
ENST00000696569.1:n.1131G>T
(FANCL)
|
|
|
|
ENST00000696570.1:c.*344G>T
(FANCL)
|
ENSP00000512725.1:n.*344G>T
|
|
|
ENST00000696619.1:n.2578G>T
(FANCL)
|
|
|
|
ENST00000696620.1:c.614G>T
(FANCL)
|
ENSP00000512759.1:p.Trp205Leu
|
|
|
ENST00000696621.1:c.*169G>T
(FANCL)
|
ENSP00000512760.1:n.*169G>T
|
|
|
ENST00000696622.1:n.2753G>T
(FANCL)
|
|
|
|
ENST00000696623.1:n.988G>T
(FANCL)
|
|
|
|
ENST00000696624.1:c.953G>T
(FANCL)
|
ENSP00000512761.1:p.Trp318Leu
|
|
|
ENST00000696625.1:c.*472G>T
(FANCL)
|
ENSP00000512762.1:n.*472G>T
|
|
|
ENST00000696634.1:c.735G>T
(FANCL)
|
ENSP00000512770.1:n.735G>T
|
|
|
ENST00000696635.1:c.998G>T
(FANCL)
|
ENSP00000512771.1:p.Trp333Leu
|
|
|
ENST00000696636.1:n.3474G>T
(FANCL)
|
|
|
|
ENST00000696637.1:n.8095G>T
(FANCL)
|
|
|
|
ENST00000696638.1:n.1037G>T
(FANCL)
|
|
|
|
ENST00000696639.1:n.3100G>T
(FANCL)
|
|
|
|
ENST00000233741.9:c.1022G>T
(FANCL)
MANE Select
|
ENSP00000233741.5:p.Trp341Leu
|
|
|
ENST00000233741.8:c.1022G>T
(FANCL)
|
ENSP00000233741.4:p.Trp341Leu
|
|
|
ENST00000402135.7:c.1037G>T
(FANCL)
|
ENSP00000385021.3:p.Trp346Leu
|
|
|
ENST00000403295.7:c.938G>T
(FANCL)
|
ENSP00000386097.3:p.Trp313Leu
|
|
|
ENST00000403676.5:c.671G>T
(FANCL)
|
ENSP00000384046.1:p.Trp224Leu
|
|
|
ENST00000449070.5:c.845G>T
(FANCL)
|
ENSP00000401280.1:p.Trp282Leu
|
|
|
NM_001114636.1:c.1037G>T , LRG_501t1:c.1037G>T
(FANCL)
|
NP_001108108.1:p.Trp346Leu
|
|
|
NM_018062.3:c.1022G>T , LRG_501t2:c.1022G>T
(FANCL)
|
NP_060532.2:p.Trp341Leu
|
|
|
XM_005264395.2:c.1022G>T
(FANCL)
|
XP_005264452.1:p.Trp341Leu
|
|
|
XM_005264397.3:c.671G>T
(FANCL)
|
XP_005264454.1:p.Trp224Leu
|
|
|
XM_011532939.1:c.1082G>T
(FANCL)
|
XP_011531241.1:p.Trp361Leu
|
|
|
XM_011532940.1:c.1067G>T
(FANCL)
|
XP_011531242.1:p.Trp356Leu
|
|
|
XM_011532941.1:c.1082G>T
(FANCL)
|
XP_011531243.1:p.Trp361Leu
|
|
|
XM_011532942.1:c.1037G>T
(FANCL)
|
XP_011531244.1:p.Trp346Leu
|
|
|
XM_011532943.1:c.1283G>T
(FANCL)
|
XP_011531245.1:p.Trp428Leu
|
|
|
XM_011532944.1:c.731G>T
(FANCL)
|
XP_011531246.1:p.Trp244Leu
|
|
|
XM_011532945.1:c.686G>T
(FANCL)
|
XP_011531247.1:p.Trp229Leu
|
|
|
XR_939692.1:n.1021G>T
(FANCL)
|
|
|
|
NR_156742.1:n.811G>T
(FANCL)
|
|
|
|
XM_005264395.4:c.1022G>T
(FANCL)
|
XP_005264452.1:p.Trp341Leu
|
|
|
XM_005264540.4:c.*485C>A
(VRK2)
|
XP_005264597.1:n.*485C>A
|
|
|
XM_006712090.4:c.*862C>A
(VRK2)
|
XP_006712153.1:n.*862C>A
|
|
|
XM_006712092.4:c.*485C>A
(VRK2)
|
XP_006712155.1:n.*485C>A
|
|
|
XM_006712093.4:c.*485C>A
(VRK2)
|
XP_006712156.1:n.*485C>A
|
|
|
XM_011532939.3:c.1082G>T
(FANCL)
|
XP_011531241.1:p.Trp361Leu
|
|
|
XM_011532940.3:c.1067G>T
(FANCL)
|
XP_011531242.1:p.Trp356Leu
|
|
|
XM_011532941.2:c.1082G>T
(FANCL)
|
XP_011531243.1:p.Trp361Leu
|
|
|
XM_011532942.3:c.1037G>T
(FANCL)
|
XP_011531244.1:p.Trp346Leu
|
|
|
XM_011532944.2:c.731G>T
(FANCL)
|
XP_011531246.1:p.Trp244Leu
|
|
|
XM_011532945.2:c.686G>T
(FANCL)
|
XP_011531247.1:p.Trp229Leu
|
|
|
XM_011533092.3:c.*485C>A
(VRK2)
|
XP_011531394.1:n.*485C>A
|
|
|
XM_017004414.2:c.1067G>T
(FANCL)
|
XP_016859903.1:p.Trp356Leu
|
|
|
XM_017004416.1:c.671G>T
(FANCL)
|
XP_016859905.1:p.Trp224Leu
|
|
|
XM_017004858.2:c.*862C>A
(VRK2)
|
XP_016860347.1:n.*862C>A
|
|
|
XM_017004859.2:c.*485C>A
(VRK2)
|
XP_016860348.1:n.*485C>A
|
|
|
XM_017004860.2:c.*485C>A
(VRK2)
|
XP_016860349.1:n.*485C>A
|
|
|
XM_017004861.2:c.*485C>A
(VRK2)
|
XP_016860350.1:n.*485C>A
|
|
|
XM_017004862.2:c.*485C>A
(VRK2)
|
XP_016860351.1:n.*485C>A
|
|
|
XM_017004863.2:c.*485C>A
(VRK2)
|
XP_016860352.1:n.*485C>A
|
|
|
XM_017004864.2:c.*862C>A
(VRK2)
|
XP_016860353.1:n.*862C>A
|
|
|
XM_017004865.1:c.*870C>A
(VRK2)
|
XP_016860354.1:n.*870C>A
|
|
|
XM_017004866.1:c.*870C>A
(VRK2)
|
XP_016860355.1:n.*870C>A
|
|
|
XR_001738802.2:n.968G>T
(FANCL)
|
|
|
|
XR_001738803.2:n.953G>T
(FANCL)
|
|
|
|
XR_002959309.1:n.1664G>T
(FANCL)
|
|
|
|
XR_939692.2:n.1013G>T
(FANCL)
|
|
|
|
NM_001374615.1:c.1067G>T
(FANCL)
|
NP_001361544.1:p.Trp356Leu
|
|
|
NM_018062.4:c.1022G>T
(FANCL)
MANE Select
|
NP_060532.2:p.Trp341Leu
|
|
|
NR_164659.1:n.903G>T
(FANCL)
|
|
|
