|
ENST00000402135.8:c.1065G>C
(FANCL)
|
ENSP00000385021.3:p.Gln355His
|
|
|
ENST00000403295.8:c.966G>C
(FANCL)
|
ENSP00000386097.3:p.Gln322His
|
|
|
ENST00000403676.6:c.*613G>C
(FANCL)
|
ENSP00000384046.2:n.*613G>C
|
|
|
ENST00000417361.2:c.*628G>C
(FANCL)
|
ENSP00000389448.2:n.*628G>C
|
|
|
ENST00000427708.7:c.1095G>C
(FANCL)
|
ENSP00000400969.3:p.Gln365His
|
|
|
ENST00000446381.6:c.606G>C
(FANCL)
|
ENSP00000390991.2:p.Gln202His
|
|
|
ENST00000449070.6:c.873G>C
(FANCL)
|
ENSP00000401280.2:p.Gln291His
|
|
|
ENST00000470506.2:n.1564G>C
(FANCL)
|
|
|
|
ENST00000696305.1:c.993G>C
(FANCL)
|
ENSP00000512543.1:p.Gln331His
|
|
|
ENST00000696306.1:c.*940G>C
(FANCL)
|
ENSP00000512544.1:n.*940G>C
|
|
|
ENST00000696307.1:c.1035G>C
(FANCL)
|
ENSP00000512545.1:p.Gln345His
|
|
|
ENST00000696314.1:c.*103G>C
(FANCL)
|
ENSP00000512552.1:n.*103G>C
|
|
|
ENST00000696315.1:c.*613G>C
(FANCL)
|
ENSP00000512553.1:n.*613G>C
|
|
|
ENST00000696316.1:c.933G>C
(FANCL)
|
ENSP00000512554.1:p.Gln311His
|
|
|
ENST00000696317.1:c.*23G>C
(FANCL)
|
ENSP00000512555.1:n.*23G>C
|
|
|
ENST00000696318.1:c.*103G>C
(FANCL)
|
ENSP00000512556.1:n.*103G>C
|
|
|
ENST00000696319.1:c.1008G>C
(FANCL)
|
ENSP00000512557.1:p.Gln336His
|
|
|
ENST00000696320.1:n.2729G>C
(FANCL)
|
|
|
|
ENST00000696324.1:c.*500G>C
(FANCL)
|
ENSP00000512561.1:n.*500G>C
|
|
|
ENST00000696325.1:n.4133G>C
(FANCL)
|
|
|
|
ENST00000696326.1:c.1110G>C
(FANCL)
|
ENSP00000512562.1:p.Gln370His
|
|
|
ENST00000696338.1:n.1164G>C
(FANCL)
|
|
|
|
ENST00000696339.1:n.2622G>C
(FANCL)
|
|
|
|
ENST00000696340.1:n.3276G>C
(FANCL)
|
|
|
|
ENST00000696341.1:n.1558G>C
(FANCL)
|
|
|
|
ENST00000696342.1:c.*2280G>C
(FANCL)
|
ENSP00000512569.1:n.*2280G>C
|
|
|
ENST00000696343.1:n.2909G>C
(FANCL)
|
|
|
|
ENST00000696344.1:c.*764G>C
(FANCL)
|
ENSP00000512570.1:n.*764G>C
|
|
|
ENST00000696358.1:n.3723G>C
(FANCL)
|
|
|
|
ENST00000696359.1:n.3400G>C
(FANCL)
|
|
|
|
ENST00000696360.1:n.1835G>C
(FANCL)
|
|
|
|
ENST00000696361.1:c.*1053G>C
(FANCL)
|
ENSP00000512579.1:n.*1053G>C
|
|
|
ENST00000696362.1:c.*500G>C
(FANCL)
|
ENSP00000512580.1:n.*500G>C
|
|
|
ENST00000696363.1:n.2827G>C
(FANCL)
|
|
|
|
ENST00000696364.1:n.1443G>C
(FANCL)
|
|
|
|
ENST00000696371.1:c.1041G>C
(FANCL)
|
ENSP00000512586.1:p.Gln347His
|
|
|
ENST00000696372.1:n.2139G>C
(FANCL)
|
|
|
|
ENST00000696373.1:c.*2280G>C
(FANCL)
|
ENSP00000512587.1:n.*2280G>C
|
|
|
ENST00000696374.1:c.*418G>C
(FANCL)
|
ENSP00000512588.1:n.*418G>C
|
|
|
ENST00000696375.1:n.7983G>C
(FANCL)
|
|
|
|
ENST00000696376.1:n.6836G>C
(FANCL)
|
|
|
|
ENST00000696378.1:c.*1068G>C
(FANCL)
|
ENSP00000512589.1:n.*1068G>C
|
|
|
ENST00000696394.1:n.4552G>C
(FANCL)
|
|
|
|
ENST00000696395.1:n.4491G>C
(FANCL)
|
|
|
|
ENST00000696396.1:n.2204G>C
(FANCL)
|
|
|
|
ENST00000696397.1:n.3175G>C
(FANCL)
|
|
|
|
ENST00000696398.1:c.*197G>C
(FANCL)
|
ENSP00000512604.1:n.*197G>C
|
|
|
ENST00000696399.1:n.2324G>C
(FANCL)
|
|
|
|
ENST00000696400.1:c.*814G>C
(FANCL)
|
ENSP00000512605.1:n.*814G>C
|
|
|
ENST00000696409.1:c.*567G>C
(FANCL)
|
ENSP00000512610.1:n.*567G>C
|
|
|
ENST00000696410.1:c.*531G>C
(FANCL)
|
ENSP00000512611.1:n.*531G>C
|
|
|
ENST00000696411.1:n.755G>C
(FANCL)
|
|
|
|
ENST00000696412.1:n.1549G>C
(FANCL)
|
|
|
|
ENST00000696413.1:n.1052G>C
(FANCL)
|
|
|
|
ENST00000696414.1:n.2096G>C
(FANCL)
|
|
|
|
ENST00000696415.1:c.*23G>C
(FANCL)
|
ENSP00000512612.1:n.*23G>C
|
|
|
ENST00000696416.1:n.1058G>C
(FANCL)
|
|
|
|
ENST00000696432.1:n.3509G>C
(FANCL)
|
|
|
|
ENST00000696433.1:c.*103G>C
(FANCL)
|
ENSP00000512627.1:n.*103G>C
|
|
|
ENST00000696434.1:c.888G>C
(FANCL)
|
ENSP00000512628.1:p.Gln296His
|
|
|
ENST00000696435.1:c.*197G>C
(FANCL)
|
ENSP00000512629.1:n.*197G>C
|
|
|
ENST00000696436.1:n.1004G>C
(FANCL)
|
|
|
|
ENST00000696437.1:n.1467G>C
(FANCL)
|
|
|
|
ENST00000696438.1:c.*883G>C
(FANCL)
|
ENSP00000512630.1:n.*883G>C
|
|
|
ENST00000696439.1:n.3099G>C
(FANCL)
|
|
|
|
ENST00000696440.1:n.2086G>C
(FANCL)
|
|
|
|
ENST00000696454.1:c.*401G>C
(FANCL)
|
ENSP00000512641.1:n.*401G>C
|
|
|
ENST00000696455.1:c.*103G>C
(FANCL)
|
ENSP00000512642.1:n.*103G>C
|
|
|
ENST00000696456.1:n.560G>C
(FANCL)
|
|
|
|
ENST00000696457.1:c.*1821G>C
(FANCL)
|
ENSP00000512643.1:n.*1821G>C
|
|
|
ENST00000696458.1:c.*23G>C
(FANCL)
|
ENSP00000512644.1:n.*23G>C
|
|
|
ENST00000696459.1:c.*485G>C
(FANCL)
|
ENSP00000512645.1:n.*485G>C
|
|
|
ENST00000696460.1:n.1547G>C
(FANCL)
|
|
|
|
ENST00000696467.1:c.*546G>C
(FANCL)
|
ENSP00000512648.1:n.*546G>C
|
|
|
ENST00000696468.1:c.*542G>C
(FANCL)
|
ENSP00000512649.1:n.*542G>C
|
|
|
ENST00000696469.1:c.*197G>C
(FANCL)
|
ENSP00000512650.1:n.*197G>C
|
|
|
ENST00000696470.1:n.3218G>C
(FANCL)
|
|
|
|
ENST00000696471.1:n.720G>C
(FANCL)
|
|
|
|
ENST00000696472.1:c.*103G>C
(FANCL)
|
ENSP00000512651.1:n.*103G>C
|
|
|
ENST00000696473.1:c.*733G>C
(FANCL)
|
ENSP00000512652.1:n.*733G>C
|
|
|
ENST00000696474.1:n.926G>C
(FANCL)
|
|
|
|
ENST00000696475.1:n.2558G>C
(FANCL)
|
|
|
|
ENST00000696492.1:c.*715G>C
(FANCL)
|
ENSP00000512662.1:n.*715G>C
|
|
|
ENST00000696493.1:c.*898G>C
(FANCL)
|
ENSP00000512663.1:n.*898G>C
|
|
|
ENST00000696494.1:n.1082G>C
(FANCL)
|
|
|
|
ENST00000696495.1:c.*796G>C
(FANCL)
|
ENSP00000512664.1:n.*796G>C
|
|
|
ENST00000696496.1:n.1589G>C
(FANCL)
|
|
|
|
ENST00000696497.1:n.4347G>C
(FANCL)
|
|
|
|
ENST00000696498.1:n.1809G>C
(FANCL)
|
|
|
|
ENST00000696499.1:c.*487G>C
(FANCL)
|
ENSP00000512665.1:n.*487G>C
|
|
|
ENST00000696508.1:c.*605G>C
(FANCL)
|
ENSP00000512674.1:n.*605G>C
|
|
|
ENST00000696509.1:c.*927G>C
(FANCL)
|
ENSP00000512675.1:n.*927G>C
|
|
|
ENST00000696510.1:c.522G>C
(FANCL)
|
ENSP00000512676.1:p.Gln174His
|
|
|
ENST00000696527.1:c.*103G>C
(FANCL)
|
ENSP00000512690.1:n.*103G>C
|
|
|
ENST00000696528.1:c.*103G>C
(FANCL)
|
ENSP00000512691.1:n.*103G>C
|
|
|
ENST00000696529.1:n.913G>C
(FANCL)
|
|
|
|
ENST00000696530.1:c.846G>C
(FANCL)
|
ENSP00000512692.1:p.Gln282His
|
|
|
ENST00000696531.1:c.*582G>C
(FANCL)
|
ENSP00000512693.1:n.*582G>C
|
|
|
ENST00000696532.1:n.2197G>C
(FANCL)
|
|
|
|
ENST00000696542.1:n.988G>C
(FANCL)
|
|
|
|
ENST00000696543.1:c.*103G>C
(FANCL)
|
ENSP00000512703.1:n.*103G>C
|
|
|
ENST00000696544.1:c.*103G>C
(FANCL)
|
ENSP00000512704.1:n.*103G>C
|
|
|
ENST00000696545.1:c.*718G>C
(FANCL)
|
ENSP00000512705.1:n.*718G>C
|
|
|
ENST00000696546.1:c.*829G>C
(FANCL)
|
ENSP00000512706.1:n.*829G>C
|
|
|
ENST00000696547.1:c.1038G>C
(FANCL)
|
ENSP00000512707.1:p.Gln346His
|
|
|
ENST00000696548.1:c.*1254G>C
(FANCL)
|
ENSP00000512708.1:n.*1254G>C
|
|
|
ENST00000696564.1:c.*103G>C
(FANCL)
|
ENSP00000512722.1:n.*103G>C
|
|
|
ENST00000696565.1:c.*103G>C
(FANCL)
|
ENSP00000512723.1:n.*103G>C
|
|
|
ENST00000696566.1:n.3638G>C
(FANCL)
|
|
|
|
ENST00000696567.1:c.945G>C
(FANCL)
|
ENSP00000512724.1:p.Gln315His
|
|
|
ENST00000696568.1:n.476G>C
(FANCL)
|
|
|
|
ENST00000696569.1:n.1159G>C
(FANCL)
|
|
|
|
ENST00000696570.1:c.*372G>C
(FANCL)
|
ENSP00000512725.1:n.*372G>C
|
|
|
ENST00000696619.1:n.2606G>C
(FANCL)
|
|
|
|
ENST00000696620.1:c.642G>C
(FANCL)
|
ENSP00000512759.1:p.Gln214His
|
|
|
ENST00000696621.1:c.*197G>C
(FANCL)
|
ENSP00000512760.1:n.*197G>C
|
|
|
ENST00000696622.1:n.2781G>C
(FANCL)
|
|
|
|
ENST00000696623.1:n.1016G>C
(FANCL)
|
|
|
|
ENST00000696624.1:c.981G>C
(FANCL)
|
ENSP00000512761.1:p.Gln327His
|
|
|
ENST00000696625.1:c.*500G>C
(FANCL)
|
ENSP00000512762.1:n.*500G>C
|
|
|
ENST00000696634.1:c.763G>C
(FANCL)
|
ENSP00000512770.1:n.763G>C
|
|
|
ENST00000696635.1:c.1026G>C
(FANCL)
|
ENSP00000512771.1:p.Gln342His
|
|
|
ENST00000696636.1:n.3502G>C
(FANCL)
|
|
|
|
ENST00000696637.1:n.8123G>C
(FANCL)
|
|
|
|
ENST00000696638.1:n.1065G>C
(FANCL)
|
|
|
|
ENST00000696639.1:n.3128G>C
(FANCL)
|
|
|
|
ENST00000233741.9:c.1050G>C
(FANCL)
MANE Select
|
ENSP00000233741.5:p.Gln350His
|
|
|
ENST00000233741.8:c.1050G>C
(FANCL)
|
ENSP00000233741.4:p.Gln350His
|
|
|
ENST00000402135.7:c.1065G>C
(FANCL)
|
ENSP00000385021.3:p.Gln355His
|
|
|
ENST00000403295.7:c.966G>C
(FANCL)
|
ENSP00000386097.3:p.Gln322His
|
|
|
ENST00000403676.5:c.699G>C
(FANCL)
|
ENSP00000384046.1:p.Gln233His
|
|
|
ENST00000449070.5:c.873G>C
(FANCL)
|
ENSP00000401280.1:p.Gln291His
|
|
|
NM_001114636.1:c.1065G>C , LRG_501t1:c.1065G>C
(FANCL)
|
NP_001108108.1:p.Gln355His
|
|
|
NM_018062.3:c.1050G>C , LRG_501t2:c.1050G>C
(FANCL)
|
NP_060532.2:p.Gln350His
|
|
|
XM_005264395.2:c.1050G>C
(FANCL)
|
XP_005264452.1:p.Gln350His
|
|
|
XM_005264397.3:c.699G>C
(FANCL)
|
XP_005264454.1:p.Gln233His
|
|
|
XM_011532939.1:c.1110G>C
(FANCL)
|
XP_011531241.1:p.Gln370His
|
|
|
XM_011532940.1:c.1095G>C
(FANCL)
|
XP_011531242.1:p.Gln365His
|
|
|
XM_011532941.1:c.1110G>C
(FANCL)
|
XP_011531243.1:p.Gln370His
|
|
|
XM_011532942.1:c.1065G>C
(FANCL)
|
XP_011531244.1:p.Gln355His
|
|
|
XM_011532943.1:c.1311G>C
(FANCL)
|
XP_011531245.1:p.Gln437His
|
|
|
XM_011532944.1:c.759G>C
(FANCL)
|
XP_011531246.1:p.Gln253His
|
|
|
XM_011532945.1:c.714G>C
(FANCL)
|
XP_011531247.1:p.Gln238His
|
|
|
XR_939692.1:n.1049G>C
(FANCL)
|
|
|
|
NR_156742.1:n.839G>C
(FANCL)
|
|
|
|
XM_005264395.4:c.1050G>C
(FANCL)
|
XP_005264452.1:p.Gln350His
|
|
|
XM_005264540.4:c.*457C>G
(VRK2)
|
XP_005264597.1:n.*457C>G
|
|
|
XM_006712090.4:c.*834C>G
(VRK2)
|
XP_006712153.1:n.*834C>G
|
|
|
XM_006712092.4:c.*457C>G
(VRK2)
|
XP_006712155.1:n.*457C>G
|
|
|
XM_006712093.4:c.*457C>G
(VRK2)
|
XP_006712156.1:n.*457C>G
|
|
|
XM_011532939.3:c.1110G>C
(FANCL)
|
XP_011531241.1:p.Gln370His
|
|
|
XM_011532940.3:c.1095G>C
(FANCL)
|
XP_011531242.1:p.Gln365His
|
|
|
XM_011532941.2:c.1110G>C
(FANCL)
|
XP_011531243.1:p.Gln370His
|
|
|
XM_011532942.3:c.1065G>C
(FANCL)
|
XP_011531244.1:p.Gln355His
|
|
|
XM_011532944.2:c.759G>C
(FANCL)
|
XP_011531246.1:p.Gln253His
|
|
|
XM_011532945.2:c.714G>C
(FANCL)
|
XP_011531247.1:p.Gln238His
|
|
|
XM_011533092.3:c.*457C>G
(VRK2)
|
XP_011531394.1:n.*457C>G
|
|
|
XM_017004414.2:c.1095G>C
(FANCL)
|
XP_016859903.1:p.Gln365His
|
|
|
XM_017004416.1:c.699G>C
(FANCL)
|
XP_016859905.1:p.Gln233His
|
|
|
XM_017004858.2:c.*834C>G
(VRK2)
|
XP_016860347.1:n.*834C>G
|
|
|
XM_017004859.2:c.*457C>G
(VRK2)
|
XP_016860348.1:n.*457C>G
|
|
|
XM_017004860.2:c.*457C>G
(VRK2)
|
XP_016860349.1:n.*457C>G
|
|
|
XM_017004861.2:c.*457C>G
(VRK2)
|
XP_016860350.1:n.*457C>G
|
|
|
XM_017004862.2:c.*457C>G
(VRK2)
|
XP_016860351.1:n.*457C>G
|
|
|
XM_017004863.2:c.*457C>G
(VRK2)
|
XP_016860352.1:n.*457C>G
|
|
|
XM_017004864.2:c.*834C>G
(VRK2)
|
XP_016860353.1:n.*834C>G
|
|
|
XM_017004865.1:c.*842C>G
(VRK2)
|
XP_016860354.1:n.*842C>G
|
|
|
XM_017004866.1:c.*842C>G
(VRK2)
|
XP_016860355.1:n.*842C>G
|
|
|
XR_001738802.2:n.996G>C
(FANCL)
|
|
|
|
XR_001738803.2:n.981G>C
(FANCL)
|
|
|
|
XR_002959309.1:n.1692G>C
(FANCL)
|
|
|
|
XR_939692.2:n.1041G>C
(FANCL)
|
|
|
|
NM_001374615.1:c.1095G>C
(FANCL)
|
NP_001361544.1:p.Gln365His
|
|
|
NM_018062.4:c.1050G>C
(FANCL)
MANE Select
|
NP_060532.2:p.Gln350His
|
|
|
NR_164659.1:n.931G>C
(FANCL)
|
|
|
