|
ENST00000412971.6:c.37-324A>T
|
ENSP00000410263.2:n.37-324A>T
|
|
|
ENST00000435155.2:c.350A>T
|
ENSP00000403655.2:p.Glu117Val
|
|
|
ENST00000467459.6:c.317A>T
|
ENSP00000435889.2:p.Glu106Val
|
|
|
ENST00000483127.2:c.335A>T
|
ENSP00000436469.2:p.Glu112Val
|
|
|
ENST00000485271.6:c.317A>T
|
ENSP00000431264.2:p.Glu106Val
|
|
|
ENST00000529892.6:c.359A>T
|
ENSP00000432528.2:p.Glu120Val
|
|
|
ENST00000533178.6:c.116-471A>T
|
ENSP00000436430.2:n.116-471A>T
|
|
|
ENST00000672314.2:c.317A>T
|
ENSP00000500828.2:p.Glu106Val
|
|
|
ENST00000674679.2:c.*229A>T
|
ENSP00000501623.2:n.*229A>T
|
|
|
ENST00000710952.2:c.401A>T
MANE Plus Clinical
|
ENSP00000518552.2:p.Glu134Val
|
|
|
ENST00000672818.3:c.392A>T
|
ENSP00000500891.1:p.Glu131Val
|
|
|
ENST00000450313.6:c.388+127A>T
|
ENSP00000408176.2:n.388+127A>T
|
|
|
ENST00000456914.7:c.317A>T
MANE Select
|
ENSP00000407590.2:p.Glu106Val
|
|
|
ENST00000461495.6:c.*117+127A>T
|
ENSP00000437166.1:n.*117+127A>T
|
|
|
ENST00000671856.1:n.324+127A>T
|
|
|
|
ENST00000671898.1:c.905A>T
|
ENSP00000499896.1:p.Glu302Val
|
|
|
ENST00000672011.1:c.346+127A>T
|
ENSP00000500418.1:n.346+127A>T
|
|
|
ENST00000672314.1:c.317A>T
|
ENSP00000500828.1:p.Glu106Val
|
|
|
ENST00000672593.1:c.*130A>T
|
ENSP00000500455.1:n.*130A>T
|
|
|
ENST00000672764.1:c.337+127A>T
|
ENSP00000500886.1:n.337+127A>T
|
|
|
ENST00000672818.2:c.392A>T
|
ENSP00000500891.1:p.Glu131Val
|
|
|
ENST00000673134.1:c.*117+127A>T
|
ENSP00000500526.1:n.*117+127A>T
|
|
|
ENST00000674679.1:c.345A>T
|
ENSP00000501623.1:n.345A>T
|
|
|
ENST00000354383.10:c.320A>T
|
ENSP00000346354.6:p.Glu107Val
|
|
|
ENST00000355498.6:c.317A>T
|
ENSP00000347685.2:p.Glu106Val
|
|
|
ENST00000372098.7:c.392A>T
|
ENSP00000361170.3:p.Glu131Val
|
|
|
ENST00000372104.5:c.317A>T
|
ENSP00000361176.1:p.Glu106Val
|
|
|
ENST00000372110.7:c.362A>T
|
ENSP00000361182.3:p.Glu121Val
|
|
|
ENST00000372115.7:c.359A>T
|
ENSP00000361187.3:p.Glu120Val
|
|
|
ENST00000412971.5:c.37-324A>T
|
ENSP00000410263.1:n.37-324A>T
|
|
|
ENST00000435155.1:c.350A>T
|
ENSP00000403655.1:p.Glu117Val
|
|
|
ENST00000448481.5:c.350A>T
|
ENSP00000409718.1:p.Glu117Val
|
|
|
ENST00000450313.5:c.401A>T
|
ENSP00000408176.1:p.Glu134Val
|
|
|
ENST00000456914.6:c.317A>T
|
ENSP00000407590.2:p.Glu106Val
|
|
|
ENST00000461495.5:c.*117+127A>T
|
ENSP00000437166.1:n.*117+127A>T
|
|
|
ENST00000462387.5:n.502A>T
|
|
|
|
ENST00000467940.5:c.*240A>T
|
ENSP00000436478.1:n.*240A>T
|
|
|
ENST00000470256.5:c.307+127A>T
|
ENSP00000434985.1:n.307+127A>T
|
|
|
ENST00000474703.1:n.472A>T
|
|
|
|
ENST00000475516.5:c.*130A>T
|
ENSP00000433843.1:n.*130A>T
|
|
|
ENST00000476789.5:n.537A>T
|
|
|
|
ENST00000478796.5:n.167A>T
|
|
|
|
ENST00000479746.6:n.380A>T
|
|
|
|
ENST00000481139.5:n.570A>T
|
|
|
|
ENST00000481571.5:c.*130A>T
|
ENSP00000436597.1:n.*130A>T
|
|
|
ENST00000483642.5:n.612A>T
|
|
|
|
ENST00000485484.5:n.481A>T
|
|
|
|
ENST00000488731.6:c.116-324A>T
|
ENSP00000432330.1:n.116-324A>T
|
|
|
ENST00000492494.5:n.494A>T
|
|
|
|
ENST00000525160.5:c.*29+127A>T
|
ENSP00000431568.1:n.*29+127A>T
|
|
|
ENST00000528013.6:c.359A>T
|
ENSP00000433130.2:p.Glu120Val
|
|
|
ENST00000529984.5:c.116-324A>T
|
ENSP00000437093.1:n.116-324A>T
|
|
|
ENST00000531105.5:c.115+1233A>T
|
ENSP00000431292.1:n.115+1233A>T
|
|
|
ENST00000533178.5:c.122-471A>T
|
ENSP00000436430.1:n.122-471A>T
|
|
|
NM_001048171.1:c.359A>T
|
NP_001041636.1:p.Glu120Val
|
|
|
NM_001048172.1:c.320A>T
|
NP_001041637.1:p.Glu107Val
|
|
|
NM_001048173.1:c.317A>T
|
NP_001041638.1:p.Glu106Val
|
|
|
NM_001048174.1:c.317A>T
|
NP_001041639.1:p.Glu106Val
|
|
|
NM_001128425.1:c.401A>T , LRG_220t1:c.401A>T
|
NP_001121897.1:p.Glu134Val
|
|
|
NM_001293190.1:c.362A>T
|
NP_001280119.1:p.Glu121Val
|
|
|
NM_001293191.1:c.350A>T
|
NP_001280120.1:p.Glu117Val
|
|
|
NM_001293192.1:c.41A>T
|
NP_001280121.1:p.Glu14Val
|
|
|
NM_001293195.1:c.317A>T
|
NP_001280124.1:p.Glu106Val
|
|
|
NM_001293196.1:c.41A>T
|
NP_001280125.1:p.Glu14Val
|
|
|
NM_012222.2:c.392A>T
|
NP_036354.1:p.Glu131Val
|
|
|
XM_011541497.1:c.377A>T
|
XP_011539799.1:p.Glu126Val
|
|
|
XM_011541498.1:c.359A>T
|
XP_011539800.1:p.Glu120Val
|
|
|
XM_011541499.1:c.359A>T
|
XP_011539801.1:p.Glu120Val
|
|
|
XM_011541500.1:c.359A>T
|
XP_011539802.1:p.Glu120Val
|
|
|
XM_011541501.1:c.359A>T
|
XP_011539803.1:p.Glu120Val
|
|
|
XM_011541502.1:c.359A>T
|
XP_011539804.1:p.Glu120Val
|
|
|
XM_011541503.1:c.401A>T
|
XP_011539805.1:p.Glu134Val
|
|
|
XM_011541504.1:c.350A>T
|
XP_011539806.1:p.Glu117Val
|
|
|
XM_011541505.1:c.43-324A>T
|
XP_011539807.1:n.43-324A>T
|
|
|
XM_011541506.1:c.43-324A>T
|
XP_011539808.1:n.43-324A>T
|
|
|
XM_011541507.1:c.33+127A>T
|
XP_011539809.1:n.33+127A>T
|
|
|
XM_011541508.1:c.6+127A>T
|
XP_011539810.1:n.6+127A>T
|
|
|
XR_946658.1:n.448A>T
|
|
|
|
NM_001350650.1:c.33+127A>T
|
NP_001337579.1:n.33+127A>T
|
|
|
NM_001350651.1:c.33+127A>T
|
NP_001337580.1:n.33+127A>T
|
|
|
NR_146882.1:n.575A>T
|
|
|
|
NR_146883.1:n.450+127A>T
|
|
|
|
XM_011541497.3:c.377A>T
|
XP_011539799.1:p.Glu126Val
|
|
|
XM_011541500.3:c.359A>T
|
XP_011539802.1:p.Glu120Val
|
|
|
XM_011541501.2:c.359A>T
|
XP_011539803.1:p.Glu120Val
|
|
|
XM_011541502.2:c.359A>T
|
XP_011539804.1:p.Glu120Val
|
|
|
XM_011541503.2:c.401A>T
|
XP_011539805.1:p.Glu134Val
|
|
|
XM_011541504.2:c.350A>T
|
XP_011539806.1:p.Glu117Val
|
|
|
XM_011541505.2:c.43-324A>T
|
XP_011539807.1:n.43-324A>T
|
|
|
XM_011541506.2:c.43-324A>T
|
XP_011539808.1:n.43-324A>T
|
|
|
XM_017001331.1:c.359A>T
|
XP_016856820.1:p.Glu120Val
|
|
|
XM_017001332.1:c.359A>T
|
XP_016856821.1:p.Glu120Val
|
|
|
XM_017001333.1:c.359A>T
|
XP_016856822.1:p.Glu120Val
|
|
|
XM_017001334.1:c.320A>T
|
XP_016856823.1:p.Glu107Val
|
|
|
XM_017001335.1:c.41A>T
|
XP_016856824.1:p.Glu14Val
|
|
|
XM_017001336.1:c.33+127A>T
|
XP_016856825.1:n.33+127A>T
|
|
|
XM_017001337.1:c.33+127A>T
|
XP_016856826.1:n.33+127A>T
|
|
|
XM_024447244.1:c.33+127A>T
|
XP_024303012.1:n.33+127A>T
|
|
|
XM_024447245.1:c.33+127A>T
|
XP_024303013.1:n.33+127A>T
|
|
|
XM_024447248.1:c.33+127A>T
|
XP_024303016.1:n.33+127A>T
|
|
|
XM_024447249.1:c.-337A>T
|
XP_024303017.1:n.-337A>T
|
|
|
XM_024447250.1:c.-337A>T
|
XP_024303018.1:n.-337A>T
|
|
|
XM_024447251.1:c.-222+127A>T
|
XP_024303019.1:n.-222+127A>T
|
|
|
XR_001737190.1:n.362A>T
|
|
|
|
XR_001737192.1:n.277+127A>T
|
|
|
|
XR_002956643.1:n.457+127A>T
|
|
|
|
XR_002956644.1:n.669A>T
|
|
|
|
XR_946658.2:n.462A>T
|
|
|
|
NM_001048171.2:c.317A>T
|
NP_001041636.2:p.Glu106Val
|
|
|
NM_001128425.2:c.401A>T
MANE Plus Clinical
|
NP_001121897.1:p.Glu134Val
|
|
|
NM_001048172.2:c.320A>T
|
NP_001041637.1:p.Glu107Val
|
|
|
NM_001048173.2:c.317A>T
|
NP_001041638.1:p.Glu106Val
|
|
|
NM_001048174.2:c.317A>T
MANE Select
|
NP_001041639.1:p.Glu106Val
|
|
|
NM_001293190.2:c.362A>T
|
NP_001280119.1:p.Glu121Val
|
|
|
NM_001293191.2:c.350A>T
|
NP_001280120.1:p.Glu117Val
|
|
|
NM_001293192.2:c.41A>T
|
NP_001280121.1:p.Glu14Val
|
|
|
NM_001293195.2:c.317A>T
|
NP_001280124.1:p.Glu106Val
|
|
|
NM_001293196.2:c.41A>T
|
NP_001280125.1:p.Glu14Val
|
|
|
NM_001350650.2:c.33+127A>T
|
NP_001337579.1:n.33+127A>T
|
|
|
NM_001350651.2:c.33+127A>T
|
NP_001337580.1:n.33+127A>T
|
|
|
NM_012222.3:c.392A>T
|
NP_036354.1:p.Glu131Val
|
|
|
NR_146882.2:n.545A>T
|
|
|
|
NR_146883.2:n.455+127A>T
|
|
|
