|
ENST00000509514.6:c.1400A>T
|
ENSP00000426272.2:p.Asp467Val
|
|
|
ENST00000518349.6:c.713A>T
|
ENSP00000507185.1:p.Asp238Val
|
|
|
ENST00000520244.6:n.3207A>T
|
|
|
|
ENST00000682445.1:c.*1350A>T
|
ENSP00000508061.1:n.*1350A>T
|
|
|
ENST00000682531.1:n.3361A>T
|
|
|
|
ENST00000682626.1:c.*975A>T
|
ENSP00000507857.1:n.*975A>T
|
|
|
ENST00000682996.1:c.1397A>T
|
ENSP00000507792.1:p.Asp466Val
|
|
|
ENST00000683265.1:n.3255A>T
|
|
|
|
ENST00000683335.1:n.2871A>T
|
|
|
|
ENST00000683371.1:c.*1599A>T
|
ENSP00000508376.1:n.*1599A>T
|
|
|
ENST00000683372.1:n.3479A>T
|
|
|
|
ENST00000683390.1:n.3159A>T
|
|
|
|
ENST00000683549.1:n.3083A>T
|
|
|
|
ENST00000683936.1:c.*3047A>T
|
ENSP00000507721.1:n.*3047A>T
|
|
|
ENST00000683974.1:n.3213-15A>T
|
|
|
|
ENST00000683996.1:c.*679A>T
|
ENSP00000507060.1:n.*679A>T
|
|
|
ENST00000684131.1:n.3001A>T
|
|
|
|
ENST00000684160.1:c.*1159A>T
|
ENSP00000507821.1:n.*1159A>T
|
|
|
ENST00000684214.1:c.1469A>T
|
ENSP00000508071.1:p.Asp490Val
|
|
|
ENST00000414835.7:c.1544A>T
|
ENSP00000411960.3:p.Asp515Val
|
|
|
ENST00000510025.7:c.1469A>T
MANE Select
|
ENSP00000424940.3:p.Asp490Val
|
|
|
ENST00000643250.1:c.*1341A>T
|
ENSP00000494737.1:n.*1341A>T
|
|
|
ENST00000644146.1:c.*2740A>T
|
ENSP00000494808.1:n.*2740A>T
|
|
|
ENST00000645099.1:c.1028A>T
|
ENSP00000496091.1:p.Asp343Val
|
|
|
ENST00000645702.1:c.*872A>T
|
ENSP00000496432.1:n.*872A>T
|
|
|
ENST00000645832.1:c.*1354A>T
|
ENSP00000494316.1:n.*1354A>T
|
|
|
ENST00000646058.1:c.1469A>T
|
ENSP00000493579.1:p.Asp490Val
|
|
|
ENST00000646355.1:c.*1475A>T
|
ENSP00000493801.1:n.*1475A>T
|
|
|
ENST00000646554.1:c.*1447A>T
|
ENSP00000494542.1:n.*1447A>T
|
|
|
ENST00000647335.1:c.*1436A>T
|
ENSP00000495180.1:n.*1436A>T
|
|
|
ENST00000647342.1:c.*1400A>T
|
ENSP00000494992.1:n.*1400A>T
|
|
|
ENST00000256216.10:c.1469A>T
|
ENSP00000256216.6:p.Asp490Val
|
|
|
ENST00000414835.6:c.1049A>T
|
ENSP00000411960.2:p.Asp350Val
|
|
|
ENST00000442060.7:c.*31A>T
|
ENSP00000390208.3:n.*31A>T
|
|
|
ENST00000504811.5:c.1544A>T
|
ENSP00000420914.1:p.Asp515Val
|
|
|
ENST00000509514.5:c.683A>T
|
ENSP00000426272.1:p.Asp228Val
|
|
|
ENST00000510025.5:c.1397A>T
|
ENSP00000424940.1:p.Asp466Val
|
|
|
ENST00000513628.5:c.1058A>T
|
ENSP00000425993.1:p.Asp353Val
|
|
|
ENST00000515235.6:n.3222A>T
|
|
|
|
ENST00000515320.5:c.1415A>T
|
ENSP00000424613.1:p.Asp472Val
|
|
|
ENST00000518349.5:n.603A>T
|
|
|
|
ENST00000520244.5:n.252A>T
|
|
|
|
ENST00000522415.5:n.136A>T
|
|
|
|
NM_000414.3:c.1469A>T
|
NP_000405.1:p.Asp490Val
|
|
|
NM_001199291.2:c.1544A>T
|
NP_001186220.1:p.Asp515Val
|
|
|
NM_001199292.1:c.1415A>T
|
NP_001186221.1:p.Asp472Val
|
|
|
NM_001292027.1:c.1397A>T
|
NP_001278956.1:p.Asp466Val
|
|
|
NM_001292028.1:c.1049A>T
|
NP_001278957.1:p.Asp350Val
|
|
|
NM_000414.4:c.1469A>T
MANE Select
|
NP_000405.1:p.Asp490Val
|
|
|
NM_001199291.3:c.1544A>T
|
NP_001186220.1:p.Asp515Val
|
|
|
NM_001199292.2:c.1415A>T
|
NP_001186221.1:p.Asp472Val
|
|
|
NM_001292027.2:c.1397A>T
|
NP_001278956.1:p.Asp466Val
|
|
|
NM_001292028.2:c.1049A>T
|
NP_001278957.1:p.Asp350Val
|
|
|
NM_001374497.1:c.1460A>T
|
NP_001361426.1:p.Asp487Val
|
|
|
NM_001374498.1:c.1397A>T
|
NP_001361427.1:p.Asp466Val
|
|
|
NM_001374499.1:c.1142A>T
|
NP_001361428.1:p.Asp381Val
|
|
|
NM_001374500.1:c.1028A>T
|
NP_001361429.1:p.Asp343Val
|
|
|
NM_001374501.1:c.1058A>T
|
NP_001361430.1:p.Asp353Val
|
|
|
NM_001374502.1:c.1058A>T
|
NP_001361431.1:p.Asp353Val
|
|
|
NM_001374503.1:c.1058A>T
|
NP_001361432.1:p.Asp353Val
|
|
|
NR_164653.1:n.1566A>T
|
|
|
|
NR_164654.1:n.1834A>T
|
|
|
