|
ENST00000413726.6:c.796G>T
|
ENSP00000397528.2:p.Asp266Tyr
|
|
|
ENST00000440732.6:c.796G>T
|
ENSP00000396869.2:p.Asp266Tyr
|
|
|
ENST00000444430.3:c.550+4186G>T
|
ENSP00000394434.3:n.550+4186G>T
|
|
|
ENST00000447616.6:c.*23G>T
|
ENSP00000388306.2:n.*23G>T
|
|
|
ENST00000450491.6:c.442G>T
|
ENSP00000391709.2:p.Asp148Tyr
|
|
|
ENST00000696067.1:c.796G>T
|
ENSP00000512369.1:p.Asp266Tyr
|
|
|
ENST00000696068.1:c.*23G>T
|
ENSP00000512370.1:n.*23G>T
|
|
|
ENST00000696069.1:c.751G>T
|
ENSP00000512371.1:p.Asp251Tyr
|
|
|
ENST00000696085.1:c.928G>T
|
ENSP00000512381.1:p.Asp310Tyr
|
|
|
ENST00000696087.1:c.751G>T
|
ENSP00000512382.1:p.Asp251Tyr
|
|
|
ENST00000673742.1:c.796G>T
MANE Select
|
ENSP00000501268.1:p.Asp266Tyr
|
|
|
ENST00000264274.13:c.550+4186G>T
|
ENSP00000264274.9:n.550+4186G>T
|
|
|
ENST00000264275.9:c.847G>T
|
ENSP00000264275.5:p.Asp283Tyr
|
|
|
ENST00000323492.11:c.751G>T
|
ENSP00000325722.7:p.Asp251Tyr
|
|
|
ENST00000339403.6:n.881G>T
|
|
|
|
ENST00000358485.8:c.973G>T
|
ENSP00000351273.4:p.Asp325Tyr
|
|
|
ENST00000392258.7:c.*23G>T
|
ENSP00000376087.3:n.*23G>T
|
|
|
ENST00000392263.6:c.751G>T
|
ENSP00000376091.2:p.Asp251Tyr
|
|
|
ENST00000392266.7:c.751G>T
|
ENSP00000376094.4:p.Asp251Tyr
|
|
|
ENST00000424461.5:c.275G>T
|
ENSP00000390346.1:n.275G>T
|
|
|
ENST00000432109.6:c.796G>T
|
ENSP00000412523.2:p.Asp266Tyr
|
|
|
ENST00000444430.2:c.139+4186G>T
|
ENSP00000394434.2:n.139+4186G>T
|
|
|
ENST00000450491.5:c.442G>T
|
ENSP00000391709.1:p.Asp148Tyr
|
|
|
NM_001080124.1:c.751G>T
|
NP_001073593.1:p.Asp251Tyr
|
|
|
NM_001080125.1:c.973G>T
|
NP_001073594.1:p.Asp325Tyr
|
|
|
NM_001228.4:c.847G>T , LRG_34t1:c.847G>T
|
NP_001219.2:p.Asp283Tyr
|
|
|
NM_033355.3:c.796G>T , LRG_34t2:c.796G>T
|
NP_203519.1:p.Asp266Tyr
|
|
|
NM_033356.3:c.751G>T
|
NP_203520.1:p.Asp251Tyr
|
|
|
NM_033358.3:c.*23G>T
|
NP_203522.1:n.*23G>T
|
|
|
NR_111983.1:n.1174G>T
|
|
|
|
XM_005246885.1:c.928G>T
|
XP_005246942.1:p.Asp310Tyr
|
|
|
XM_005246886.1:c.796G>T
|
XP_005246943.1:p.Asp266Tyr
|
|
|
XM_005246887.1:c.796G>T
|
XP_005246944.1:p.Asp266Tyr
|
|
|
XM_005246888.1:c.796G>T
|
XP_005246945.1:p.Asp266Tyr
|
|
|
XM_005246889.1:c.796G>T
|
XP_005246946.1:p.Asp266Tyr
|
|
|
XM_005246890.2:c.796G>T
|
XP_005246947.1:p.Asp266Tyr
|
|
|
XM_005246891.3:c.796G>T
|
XP_005246948.1:p.Asp266Tyr
|
|
|
XM_005246892.1:c.751G>T
|
XP_005246949.1:p.Asp251Tyr
|
|
|
XM_005246893.2:c.*23G>T
|
XP_005246950.1:n.*23G>T
|
|
|
XM_005246894.2:c.199G>T
|
XP_005246951.1:p.Asp67Tyr
|
|
|
XM_005246895.2:c.*23G>T
|
XP_005246952.1:n.*23G>T
|
|
|
XM_006712789.1:c.796G>T
|
XP_006712852.1:p.Asp266Tyr
|
|
|
XM_006712790.2:c.796G>T
|
XP_006712853.1:p.Asp266Tyr
|
|
|
XM_006712791.1:c.727+4186G>T
|
XP_006712854.1:n.727+4186G>T
|
|
|
XM_006712793.2:c.*23G>T
|
XP_006712856.1:n.*23G>T
|
|
|
XM_011511968.1:c.973G>T
|
XP_011510270.1:p.Asp325Tyr
|
|
|
XM_011511969.1:c.361G>T
|
XP_011510271.1:p.Asp121Tyr
|
|
|
XM_011511970.1:c.*23G>T
|
XP_011510272.1:n.*23G>T
|
|
|
XR_923035.1:n.929G>T
|
|
|
|
XM_005246885.2:c.928G>T
|
XP_005246942.1:p.Asp310Tyr
|
|
|
XM_005246886.2:c.796G>T
|
XP_005246943.1:p.Asp266Tyr
|
|
|
XM_005246887.2:c.796G>T
|
XP_005246944.1:p.Asp266Tyr
|
|
|
XM_005246888.2:c.796G>T
|
XP_005246945.1:p.Asp266Tyr
|
|
|
XM_005246889.2:c.796G>T
|
XP_005246946.1:p.Asp266Tyr
|
|
|
XM_005246890.4:c.796G>T
|
XP_005246947.1:p.Asp266Tyr
|
|
|
XM_005246891.5:c.796G>T
|
XP_005246948.1:p.Asp266Tyr
|
|
|
XM_005246892.2:c.751G>T
|
XP_005246949.1:p.Asp251Tyr
|
|
|
XM_005246893.3:c.*23G>T
|
XP_005246950.1:n.*23G>T
|
|
|
XM_005246894.4:c.199G>T
|
XP_005246951.1:p.Asp67Tyr
|
|
|
XM_005246895.3:c.*23G>T
|
XP_005246952.1:n.*23G>T
|
|
|
XM_006712789.2:c.796G>T
|
XP_006712852.1:p.Asp266Tyr
|
|
|
XM_006712790.4:c.796G>T
|
XP_006712853.1:p.Asp266Tyr
|
|
|
XM_006712793.3:c.*23G>T
|
XP_006712856.1:n.*23G>T
|
|
|
XM_011511969.2:c.361G>T
|
XP_011510271.1:p.Asp121Tyr
|
|
|
XR_001738971.1:n.1007G>T
|
|
|
|
NM_001080124.2:c.751G>T
|
NP_001073593.1:p.Asp251Tyr
|
|
|
NM_001080125.2:c.973G>T
|
NP_001073594.1:p.Asp325Tyr
|
|
|
NM_001372051.1:c.796G>T
MANE Select
|
NP_001358980.1:p.Asp266Tyr
|
|
|
NM_033356.4:c.751G>T
|
NP_203520.1:p.Asp251Tyr
|
|
|
NM_033358.4:c.*23G>T
|
NP_203522.1:n.*23G>T
|
|
|
NR_111983.2:n.1170G>T
|
|
|
|
NM_001400642.1:c.928G>T
|
NP_001387571.1:p.Asp310Tyr
|
|
|
NM_001400645.1:c.829G>T
|
NP_001387574.1:p.Asp277Tyr
|
|
|
NM_001400648.1:c.796G>T
|
NP_001387577.1:p.Asp266Tyr
|
|
|
NM_001400651.1:c.796G>T
|
NP_001387580.1:p.Asp266Tyr
|
|
|
NM_001400653.1:c.796G>T
|
NP_001387582.1:p.Asp266Tyr
|
|
|
NM_001400654.1:c.796G>T
|
NP_001387583.1:p.Asp266Tyr
|
|
|
NM_001400655.1:c.796G>T
|
NP_001387584.1:p.Asp266Tyr
|
|
|
NM_001400656.1:c.796G>T
|
NP_001387585.1:p.Asp266Tyr
|
|
|
NM_001400657.1:c.796G>T
|
NP_001387586.1:p.Asp266Tyr
|
|
|
NM_001400658.1:c.751G>T
|
NP_001387587.1:p.Asp251Tyr
|
|
|
NM_001400659.1:c.751G>T
|
NP_001387588.1:p.Asp251Tyr
|
|
|
NM_001400660.1:c.751G>T
|
NP_001387589.1:p.Asp251Tyr
|
|
|
NM_001400661.1:c.751G>T
|
NP_001387590.1:p.Asp251Tyr
|
|
|
NM_001400662.1:c.751G>T
|
NP_001387591.1:p.Asp251Tyr
|
|
|
NM_001400663.1:c.751G>T
|
NP_001387592.1:p.Asp251Tyr
|
|
|
NM_001400664.1:c.727G>T
|
NP_001387593.1:p.Asp243Tyr
|
|
|
NM_001400665.1:c.727+4186G>T
|
NP_001387594.1:n.727+4186G>T
|
|
|
NM_001400666.1:c.595+4020G>T
|
NP_001387595.1:n.595+4020G>T
|
|
|
NM_001400667.1:c.550+4186G>T
|
NP_001387596.1:n.550+4186G>T
|
|
|
NM_001400668.1:c.550+4186G>T
|
NP_001387597.1:n.550+4186G>T
|
|
|
NM_001400669.1:c.487G>T
|
NP_001387598.1:p.Asp163Tyr
|
|
|
NM_001400670.1:c.796G>T
|
NP_001387599.1:p.Asp266Tyr
|
|
|
NM_001400671.1:c.199G>T
|
NP_001387600.1:p.Asp67Tyr
|
|
|
NM_001400672.1:c.199G>T
|
NP_001387601.1:p.Asp67Tyr
|
|
|
NM_001400673.1:c.199G>T
|
NP_001387602.1:p.Asp67Tyr
|
|
|
NM_001400674.1:c.181G>T
|
NP_001387603.1:p.Asp61Tyr
|
|
|
NM_001400675.1:c.154G>T
|
NP_001387604.1:p.Asp52Tyr
|
|
|
NM_001400676.1:c.154G>T
|
NP_001387605.1:p.Asp52Tyr
|
|
|
NM_001400677.1:c.154G>T
|
NP_001387606.1:p.Asp52Tyr
|
|
|
NM_001400678.1:c.154G>T
|
NP_001387607.1:p.Asp52Tyr
|
|
|
NM_001400679.1:c.*23G>T
|
NP_001387608.1:n.*23G>T
|
|
|
NM_001400680.1:c.181G>T
|
NP_001387609.1:p.Asp61Tyr
|
|
|
NM_001400750.1:c.199G>T
|
NP_001387679.1:p.Asp67Tyr
|
|
|
NM_001400751.1:c.154G>T
|
NP_001387680.1:p.Asp52Tyr
|
|
|
NR_174564.1:n.749G>T
|
|
|
|
NR_174565.1:n.879G>T
|
|
|
|
NR_174581.1:n.905G>T
|
|
|
|
NR_174583.1:n.1011G>T
|
|
|
|
NR_174584.1:n.1060G>T
|
|
|
|
NR_174585.1:n.942G>T
|
|
|
|
NR_174586.1:n.916G>T
|
|
|
|
NR_174588.1:n.1079G>T
|
|
|
|
NR_174589.1:n.874G>T
|
|
|
|
NR_174590.1:n.966G>T
|
|
|
|
NR_174591.1:n.897G>T
|
|
|
|
NR_174592.1:n.1242G>T
|
|
|
|
NR_174593.1:n.1040G>T
|
|
|
|
NR_174594.1:n.1083G>T
|
|
|
|
NR_174595.1:n.998G>T
|
|
|
|
NR_174596.1:n.835G>T
|
|
|
|
NR_174598.1:n.1193G>T
|
|
|
|
NR_174599.1:n.719+2009G>T
|
|
|
|
NR_174600.1:n.1105G>T
|
|
|
|
NR_174601.1:n.1030G>T
|
|
|
|
NR_174602.1:n.900G>T
|
|
|
