|
ENST00000402135.8:c.1046G>C
(FANCL)
|
ENSP00000385021.3:p.Gly349Ala
|
|
|
ENST00000403295.8:c.947G>C
(FANCL)
|
ENSP00000386097.3:p.Gly316Ala
|
|
|
ENST00000403676.6:c.*594G>C
(FANCL)
|
ENSP00000384046.2:n.*594G>C
|
|
|
ENST00000417361.2:c.*609G>C
(FANCL)
|
ENSP00000389448.2:n.*609G>C
|
|
|
ENST00000427708.7:c.1076G>C
(FANCL)
|
ENSP00000400969.3:p.Gly359Ala
|
|
|
ENST00000446381.6:c.587G>C
(FANCL)
|
ENSP00000390991.2:p.Gly196Ala
|
|
|
ENST00000449070.6:c.854G>C
(FANCL)
|
ENSP00000401280.2:p.Gly285Ala
|
|
|
ENST00000470506.2:n.1545G>C
(FANCL)
|
|
|
|
ENST00000696305.1:c.974G>C
(FANCL)
|
ENSP00000512543.1:p.Gly325Ala
|
|
|
ENST00000696306.1:c.*921G>C
(FANCL)
|
ENSP00000512544.1:n.*921G>C
|
|
|
ENST00000696307.1:c.1016G>C
(FANCL)
|
ENSP00000512545.1:p.Gly339Ala
|
|
|
ENST00000696314.1:c.*84G>C
(FANCL)
|
ENSP00000512552.1:n.*84G>C
|
|
|
ENST00000696315.1:c.*594G>C
(FANCL)
|
ENSP00000512553.1:n.*594G>C
|
|
|
ENST00000696316.1:c.914G>C
(FANCL)
|
ENSP00000512554.1:p.Gly305Ala
|
|
|
ENST00000696317.1:c.*4G>C
(FANCL)
|
ENSP00000512555.1:n.*4G>C
|
|
|
ENST00000696318.1:c.*84G>C
(FANCL)
|
ENSP00000512556.1:n.*84G>C
|
|
|
ENST00000696319.1:c.989G>C
(FANCL)
|
ENSP00000512557.1:p.Gly330Ala
|
|
|
ENST00000696320.1:n.2710G>C
(FANCL)
|
|
|
|
ENST00000696324.1:c.*481G>C
(FANCL)
|
ENSP00000512561.1:n.*481G>C
|
|
|
ENST00000696325.1:n.4114G>C
(FANCL)
|
|
|
|
ENST00000696326.1:c.1091G>C
(FANCL)
|
ENSP00000512562.1:p.Gly364Ala
|
|
|
ENST00000696338.1:n.1145G>C
(FANCL)
|
|
|
|
ENST00000696339.1:n.2603G>C
(FANCL)
|
|
|
|
ENST00000696340.1:n.3257G>C
(FANCL)
|
|
|
|
ENST00000696341.1:n.1539G>C
(FANCL)
|
|
|
|
ENST00000696342.1:c.*2261G>C
(FANCL)
|
ENSP00000512569.1:n.*2261G>C
|
|
|
ENST00000696343.1:n.2890G>C
(FANCL)
|
|
|
|
ENST00000696344.1:c.*745G>C
(FANCL)
|
ENSP00000512570.1:n.*745G>C
|
|
|
ENST00000696358.1:n.3704G>C
(FANCL)
|
|
|
|
ENST00000696359.1:n.3381G>C
(FANCL)
|
|
|
|
ENST00000696360.1:n.1816G>C
(FANCL)
|
|
|
|
ENST00000696361.1:c.*1034G>C
(FANCL)
|
ENSP00000512579.1:n.*1034G>C
|
|
|
ENST00000696362.1:c.*481G>C
(FANCL)
|
ENSP00000512580.1:n.*481G>C
|
|
|
ENST00000696363.1:n.2808G>C
(FANCL)
|
|
|
|
ENST00000696364.1:n.1424G>C
(FANCL)
|
|
|
|
ENST00000696371.1:c.1022G>C
(FANCL)
|
ENSP00000512586.1:p.Gly341Ala
|
|
|
ENST00000696372.1:n.2120G>C
(FANCL)
|
|
|
|
ENST00000696373.1:c.*2261G>C
(FANCL)
|
ENSP00000512587.1:n.*2261G>C
|
|
|
ENST00000696374.1:c.*399G>C
(FANCL)
|
ENSP00000512588.1:n.*399G>C
|
|
|
ENST00000696375.1:n.7964G>C
(FANCL)
|
|
|
|
ENST00000696376.1:n.6817G>C
(FANCL)
|
|
|
|
ENST00000696378.1:c.*1049G>C
(FANCL)
|
ENSP00000512589.1:n.*1049G>C
|
|
|
ENST00000696394.1:n.4533G>C
(FANCL)
|
|
|
|
ENST00000696395.1:n.4472G>C
(FANCL)
|
|
|
|
ENST00000696396.1:n.2185G>C
(FANCL)
|
|
|
|
ENST00000696397.1:n.3156G>C
(FANCL)
|
|
|
|
ENST00000696398.1:c.*178G>C
(FANCL)
|
ENSP00000512604.1:n.*178G>C
|
|
|
ENST00000696399.1:n.2305G>C
(FANCL)
|
|
|
|
ENST00000696400.1:c.*795G>C
(FANCL)
|
ENSP00000512605.1:n.*795G>C
|
|
|
ENST00000696409.1:c.*548G>C
(FANCL)
|
ENSP00000512610.1:n.*548G>C
|
|
|
ENST00000696410.1:c.*512G>C
(FANCL)
|
ENSP00000512611.1:n.*512G>C
|
|
|
ENST00000696411.1:n.736G>C
(FANCL)
|
|
|
|
ENST00000696412.1:n.1530G>C
(FANCL)
|
|
|
|
ENST00000696413.1:n.1033G>C
(FANCL)
|
|
|
|
ENST00000696414.1:n.2077G>C
(FANCL)
|
|
|
|
ENST00000696415.1:c.*4G>C
(FANCL)
|
ENSP00000512612.1:n.*4G>C
|
|
|
ENST00000696416.1:n.1039G>C
(FANCL)
|
|
|
|
ENST00000696432.1:n.3490G>C
(FANCL)
|
|
|
|
ENST00000696433.1:c.*84G>C
(FANCL)
|
ENSP00000512627.1:n.*84G>C
|
|
|
ENST00000696434.1:c.869G>C
(FANCL)
|
ENSP00000512628.1:p.Gly290Ala
|
|
|
ENST00000696435.1:c.*178G>C
(FANCL)
|
ENSP00000512629.1:n.*178G>C
|
|
|
ENST00000696436.1:n.985G>C
(FANCL)
|
|
|
|
ENST00000696437.1:n.1448G>C
(FANCL)
|
|
|
|
ENST00000696438.1:c.*864G>C
(FANCL)
|
ENSP00000512630.1:n.*864G>C
|
|
|
ENST00000696439.1:n.3080G>C
(FANCL)
|
|
|
|
ENST00000696440.1:n.2067G>C
(FANCL)
|
|
|
|
ENST00000696454.1:c.*382G>C
(FANCL)
|
ENSP00000512641.1:n.*382G>C
|
|
|
ENST00000696455.1:c.*84G>C
(FANCL)
|
ENSP00000512642.1:n.*84G>C
|
|
|
ENST00000696456.1:n.541G>C
(FANCL)
|
|
|
|
ENST00000696457.1:c.*1802G>C
(FANCL)
|
ENSP00000512643.1:n.*1802G>C
|
|
|
ENST00000696458.1:c.*4G>C
(FANCL)
|
ENSP00000512644.1:n.*4G>C
|
|
|
ENST00000696459.1:c.*466G>C
(FANCL)
|
ENSP00000512645.1:n.*466G>C
|
|
|
ENST00000696460.1:n.1528G>C
(FANCL)
|
|
|
|
ENST00000696467.1:c.*527G>C
(FANCL)
|
ENSP00000512648.1:n.*527G>C
|
|
|
ENST00000696468.1:c.*523G>C
(FANCL)
|
ENSP00000512649.1:n.*523G>C
|
|
|
ENST00000696469.1:c.*178G>C
(FANCL)
|
ENSP00000512650.1:n.*178G>C
|
|
|
ENST00000696470.1:n.3199G>C
(FANCL)
|
|
|
|
ENST00000696471.1:n.701G>C
(FANCL)
|
|
|
|
ENST00000696472.1:c.*84G>C
(FANCL)
|
ENSP00000512651.1:n.*84G>C
|
|
|
ENST00000696473.1:c.*714G>C
(FANCL)
|
ENSP00000512652.1:n.*714G>C
|
|
|
ENST00000696474.1:n.907G>C
(FANCL)
|
|
|
|
ENST00000696475.1:n.2539G>C
(FANCL)
|
|
|
|
ENST00000696492.1:c.*696G>C
(FANCL)
|
ENSP00000512662.1:n.*696G>C
|
|
|
ENST00000696493.1:c.*879G>C
(FANCL)
|
ENSP00000512663.1:n.*879G>C
|
|
|
ENST00000696494.1:n.1063G>C
(FANCL)
|
|
|
|
ENST00000696495.1:c.*777G>C
(FANCL)
|
ENSP00000512664.1:n.*777G>C
|
|
|
ENST00000696496.1:n.1570G>C
(FANCL)
|
|
|
|
ENST00000696497.1:n.4328G>C
(FANCL)
|
|
|
|
ENST00000696498.1:n.1790G>C
(FANCL)
|
|
|
|
ENST00000696499.1:c.*468G>C
(FANCL)
|
ENSP00000512665.1:n.*468G>C
|
|
|
ENST00000696508.1:c.*586G>C
(FANCL)
|
ENSP00000512674.1:n.*586G>C
|
|
|
ENST00000696509.1:c.*908G>C
(FANCL)
|
ENSP00000512675.1:n.*908G>C
|
|
|
ENST00000696510.1:c.503G>C
(FANCL)
|
ENSP00000512676.1:p.Gly168Ala
|
|
|
ENST00000696527.1:c.*84G>C
(FANCL)
|
ENSP00000512690.1:n.*84G>C
|
|
|
ENST00000696528.1:c.*84G>C
(FANCL)
|
ENSP00000512691.1:n.*84G>C
|
|
|
ENST00000696529.1:n.894G>C
(FANCL)
|
|
|
|
ENST00000696530.1:c.827G>C
(FANCL)
|
ENSP00000512692.1:p.Gly276Ala
|
|
|
ENST00000696531.1:c.*563G>C
(FANCL)
|
ENSP00000512693.1:n.*563G>C
|
|
|
ENST00000696532.1:n.2178G>C
(FANCL)
|
|
|
|
ENST00000696542.1:n.969G>C
(FANCL)
|
|
|
|
ENST00000696543.1:c.*84G>C
(FANCL)
|
ENSP00000512703.1:n.*84G>C
|
|
|
ENST00000696544.1:c.*84G>C
(FANCL)
|
ENSP00000512704.1:n.*84G>C
|
|
|
ENST00000696545.1:c.*699G>C
(FANCL)
|
ENSP00000512705.1:n.*699G>C
|
|
|
ENST00000696546.1:c.*810G>C
(FANCL)
|
ENSP00000512706.1:n.*810G>C
|
|
|
ENST00000696547.1:c.1019G>C
(FANCL)
|
ENSP00000512707.1:p.Gly340Ala
|
|
|
ENST00000696548.1:c.*1235G>C
(FANCL)
|
ENSP00000512708.1:n.*1235G>C
|
|
|
ENST00000696564.1:c.*84G>C
(FANCL)
|
ENSP00000512722.1:n.*84G>C
|
|
|
ENST00000696565.1:c.*84G>C
(FANCL)
|
ENSP00000512723.1:n.*84G>C
|
|
|
ENST00000696566.1:n.3619G>C
(FANCL)
|
|
|
|
ENST00000696567.1:c.926G>C
(FANCL)
|
ENSP00000512724.1:p.Gly309Ala
|
|
|
ENST00000696568.1:n.457G>C
(FANCL)
|
|
|
|
ENST00000696569.1:n.1140G>C
(FANCL)
|
|
|
|
ENST00000696570.1:c.*353G>C
(FANCL)
|
ENSP00000512725.1:n.*353G>C
|
|
|
ENST00000696619.1:n.2587G>C
(FANCL)
|
|
|
|
ENST00000696620.1:c.623G>C
(FANCL)
|
ENSP00000512759.1:p.Gly208Ala
|
|
|
ENST00000696621.1:c.*178G>C
(FANCL)
|
ENSP00000512760.1:n.*178G>C
|
|
|
ENST00000696622.1:n.2762G>C
(FANCL)
|
|
|
|
ENST00000696623.1:n.997G>C
(FANCL)
|
|
|
|
ENST00000696624.1:c.962G>C
(FANCL)
|
ENSP00000512761.1:p.Gly321Ala
|
|
|
ENST00000696625.1:c.*481G>C
(FANCL)
|
ENSP00000512762.1:n.*481G>C
|
|
|
ENST00000696634.1:c.744G>C
(FANCL)
|
ENSP00000512770.1:n.744G>C
|
|
|
ENST00000696635.1:c.1007G>C
(FANCL)
|
ENSP00000512771.1:p.Gly336Ala
|
|
|
ENST00000696636.1:n.3483G>C
(FANCL)
|
|
|
|
ENST00000696637.1:n.8104G>C
(FANCL)
|
|
|
|
ENST00000696638.1:n.1046G>C
(FANCL)
|
|
|
|
ENST00000696639.1:n.3109G>C
(FANCL)
|
|
|
|
ENST00000233741.9:c.1031G>C
(FANCL)
MANE Select
|
ENSP00000233741.5:p.Gly344Ala
|
|
|
ENST00000233741.8:c.1031G>C
(FANCL)
|
ENSP00000233741.4:p.Gly344Ala
|
|
|
ENST00000402135.7:c.1046G>C
(FANCL)
|
ENSP00000385021.3:p.Gly349Ala
|
|
|
ENST00000403295.7:c.947G>C
(FANCL)
|
ENSP00000386097.3:p.Gly316Ala
|
|
|
ENST00000403676.5:c.680G>C
(FANCL)
|
ENSP00000384046.1:p.Gly227Ala
|
|
|
ENST00000449070.5:c.854G>C
(FANCL)
|
ENSP00000401280.1:p.Gly285Ala
|
|
|
NM_001114636.1:c.1046G>C , LRG_501t1:c.1046G>C
(FANCL)
|
NP_001108108.1:p.Gly349Ala
|
|
|
NM_018062.3:c.1031G>C , LRG_501t2:c.1031G>C
(FANCL)
|
NP_060532.2:p.Gly344Ala
|
|
|
XM_005264395.2:c.1031G>C
(FANCL)
|
XP_005264452.1:p.Gly344Ala
|
|
|
XM_005264397.3:c.680G>C
(FANCL)
|
XP_005264454.1:p.Gly227Ala
|
|
|
XM_011532939.1:c.1091G>C
(FANCL)
|
XP_011531241.1:p.Gly364Ala
|
|
|
XM_011532940.1:c.1076G>C
(FANCL)
|
XP_011531242.1:p.Gly359Ala
|
|
|
XM_011532941.1:c.1091G>C
(FANCL)
|
XP_011531243.1:p.Gly364Ala
|
|
|
XM_011532942.1:c.1046G>C
(FANCL)
|
XP_011531244.1:p.Gly349Ala
|
|
|
XM_011532943.1:c.1292G>C
(FANCL)
|
XP_011531245.1:p.Gly431Ala
|
|
|
XM_011532944.1:c.740G>C
(FANCL)
|
XP_011531246.1:p.Gly247Ala
|
|
|
XM_011532945.1:c.695G>C
(FANCL)
|
XP_011531247.1:p.Gly232Ala
|
|
|
XR_939692.1:n.1030G>C
(FANCL)
|
|
|
|
NR_156742.1:n.820G>C
(FANCL)
|
|
|
|
XM_005264395.4:c.1031G>C
(FANCL)
|
XP_005264452.1:p.Gly344Ala
|
|
|
XM_005264540.4:c.*476C>G
(VRK2)
|
XP_005264597.1:n.*476C>G
|
|
|
XM_006712090.4:c.*853C>G
(VRK2)
|
XP_006712153.1:n.*853C>G
|
|
|
XM_006712092.4:c.*476C>G
(VRK2)
|
XP_006712155.1:n.*476C>G
|
|
|
XM_006712093.4:c.*476C>G
(VRK2)
|
XP_006712156.1:n.*476C>G
|
|
|
XM_011532939.3:c.1091G>C
(FANCL)
|
XP_011531241.1:p.Gly364Ala
|
|
|
XM_011532940.3:c.1076G>C
(FANCL)
|
XP_011531242.1:p.Gly359Ala
|
|
|
XM_011532941.2:c.1091G>C
(FANCL)
|
XP_011531243.1:p.Gly364Ala
|
|
|
XM_011532942.3:c.1046G>C
(FANCL)
|
XP_011531244.1:p.Gly349Ala
|
|
|
XM_011532944.2:c.740G>C
(FANCL)
|
XP_011531246.1:p.Gly247Ala
|
|
|
XM_011532945.2:c.695G>C
(FANCL)
|
XP_011531247.1:p.Gly232Ala
|
|
|
XM_011533092.3:c.*476C>G
(VRK2)
|
XP_011531394.1:n.*476C>G
|
|
|
XM_017004414.2:c.1076G>C
(FANCL)
|
XP_016859903.1:p.Gly359Ala
|
|
|
XM_017004416.1:c.680G>C
(FANCL)
|
XP_016859905.1:p.Gly227Ala
|
|
|
XM_017004858.2:c.*853C>G
(VRK2)
|
XP_016860347.1:n.*853C>G
|
|
|
XM_017004859.2:c.*476C>G
(VRK2)
|
XP_016860348.1:n.*476C>G
|
|
|
XM_017004860.2:c.*476C>G
(VRK2)
|
XP_016860349.1:n.*476C>G
|
|
|
XM_017004861.2:c.*476C>G
(VRK2)
|
XP_016860350.1:n.*476C>G
|
|
|
XM_017004862.2:c.*476C>G
(VRK2)
|
XP_016860351.1:n.*476C>G
|
|
|
XM_017004863.2:c.*476C>G
(VRK2)
|
XP_016860352.1:n.*476C>G
|
|
|
XM_017004864.2:c.*853C>G
(VRK2)
|
XP_016860353.1:n.*853C>G
|
|
|
XM_017004865.1:c.*861C>G
(VRK2)
|
XP_016860354.1:n.*861C>G
|
|
|
XM_017004866.1:c.*861C>G
(VRK2)
|
XP_016860355.1:n.*861C>G
|
|
|
XR_001738802.2:n.977G>C
(FANCL)
|
|
|
|
XR_001738803.2:n.962G>C
(FANCL)
|
|
|
|
XR_002959309.1:n.1673G>C
(FANCL)
|
|
|
|
XR_939692.2:n.1022G>C
(FANCL)
|
|
|
|
NM_001374615.1:c.1076G>C
(FANCL)
|
NP_001361544.1:p.Gly359Ala
|
|
|
NM_018062.4:c.1031G>C
(FANCL)
MANE Select
|
NP_060532.2:p.Gly344Ala
|
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NR_164659.1:n.912G>C
(FANCL)
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