|
ENST00000509514.6:c.1886G>T
|
ENSP00000426272.2:p.Trp629Leu
|
|
|
ENST00000518349.6:c.1199G>T
|
ENSP00000507185.1:p.Trp400Leu
|
|
|
ENST00000682445.1:c.*1836G>T
|
ENSP00000508061.1:n.*1836G>T
|
|
|
ENST00000682531.1:n.3847G>T
|
|
|
|
ENST00000682626.1:c.*1461G>T
|
ENSP00000507857.1:n.*1461G>T
|
|
|
ENST00000682996.1:c.1883G>T
|
ENSP00000507792.1:p.Trp628Leu
|
|
|
ENST00000683265.1:n.3741G>T
|
|
|
|
ENST00000683335.1:n.3357G>T
|
|
|
|
ENST00000683371.1:c.*2085G>T
|
ENSP00000508376.1:n.*2085G>T
|
|
|
ENST00000683372.1:n.3965G>T
|
|
|
|
ENST00000683390.1:n.3645G>T
|
|
|
|
ENST00000683476.1:n.797G>T
|
|
|
|
ENST00000683549.1:n.3569G>T
|
|
|
|
ENST00000683936.1:c.*3533G>T
|
ENSP00000507721.1:n.*3533G>T
|
|
|
ENST00000683974.1:n.3684G>T
|
|
|
|
ENST00000683996.1:c.*1165G>T
|
ENSP00000507060.1:n.*1165G>T
|
|
|
ENST00000684131.1:n.3487G>T
|
|
|
|
ENST00000684160.1:c.*1645G>T
|
ENSP00000507821.1:n.*1645G>T
|
|
|
ENST00000684214.1:c.1854+1386G>T
|
ENSP00000508071.1:n.1854+1386G>T
|
|
|
ENST00000414835.7:c.2030G>T
|
ENSP00000411960.3:p.Trp677Leu
|
|
|
ENST00000510025.7:c.1955G>T
MANE Select
|
ENSP00000424940.3:p.Trp652Leu
|
|
|
ENST00000643250.1:c.*1827G>T
|
ENSP00000494737.1:n.*1827G>T
|
|
|
ENST00000644146.1:c.*3226G>T
|
ENSP00000494808.1:n.*3226G>T
|
|
|
ENST00000645099.1:c.1514G>T
|
ENSP00000496091.1:p.Trp505Leu
|
|
|
ENST00000645702.1:c.*1358G>T
|
ENSP00000496432.1:n.*1358G>T
|
|
|
ENST00000645832.1:c.*1840G>T
|
ENSP00000494316.1:n.*1840G>T
|
|
|
ENST00000646058.1:c.1955G>T
|
ENSP00000493579.1:p.Trp652Leu
|
|
|
ENST00000646355.1:c.*1961G>T
|
ENSP00000493801.1:n.*1961G>T
|
|
|
ENST00000646554.1:c.*1933G>T
|
ENSP00000494542.1:n.*1933G>T
|
|
|
ENST00000647335.1:c.*1922G>T
|
ENSP00000495180.1:n.*1922G>T
|
|
|
ENST00000647342.1:c.*1886G>T
|
ENSP00000494992.1:n.*1886G>T
|
|
|
ENST00000256216.10:c.1955G>T
|
ENSP00000256216.6:p.Trp652Leu
|
|
|
ENST00000414835.6:c.1535G>T
|
ENSP00000411960.2:p.Trp512Leu
|
|
|
ENST00000442060.7:c.*510G>T
|
ENSP00000390208.3:n.*510G>T
|
|
|
ENST00000504811.5:c.2030G>T
|
ENSP00000420914.1:p.Trp677Leu
|
|
|
ENST00000509514.5:c.1169G>T
|
ENSP00000426272.1:p.Trp390Leu
|
|
|
ENST00000509606.1:n.250G>T
|
|
|
|
ENST00000509951.5:n.309+1386G>T
|
|
|
|
ENST00000510025.5:c.1883G>T
|
ENSP00000424940.1:p.Trp628Leu
|
|
|
ENST00000513628.5:c.1544G>T
|
ENSP00000425993.1:p.Trp515Leu
|
|
|
ENST00000515235.6:n.3708G>T
|
|
|
|
ENST00000515320.5:c.1901G>T
|
ENSP00000424613.1:p.Trp634Leu
|
|
|
ENST00000522415.5:n.622G>T
|
|
|
|
NM_000414.3:c.1955G>T
|
NP_000405.1:p.Trp652Leu
|
|
|
NM_001199291.2:c.2030G>T
|
NP_001186220.1:p.Trp677Leu
|
|
|
NM_001199292.1:c.1901G>T
|
NP_001186221.1:p.Trp634Leu
|
|
|
NM_001292027.1:c.1883G>T
|
NP_001278956.1:p.Trp628Leu
|
|
|
NM_001292028.1:c.1535G>T
|
NP_001278957.1:p.Trp512Leu
|
|
|
NM_000414.4:c.1955G>T
MANE Select
|
NP_000405.1:p.Trp652Leu
|
|
|
NM_001199291.3:c.2030G>T
|
NP_001186220.1:p.Trp677Leu
|
|
|
NM_001199292.2:c.1901G>T
|
NP_001186221.1:p.Trp634Leu
|
|
|
NM_001292027.2:c.1883G>T
|
NP_001278956.1:p.Trp628Leu
|
|
|
NM_001292028.2:c.1535G>T
|
NP_001278957.1:p.Trp512Leu
|
|
|
NM_001374497.1:c.1946G>T
|
NP_001361426.1:p.Trp649Leu
|
|
|
NM_001374498.1:c.1883G>T
|
NP_001361427.1:p.Trp628Leu
|
|
|
NM_001374499.1:c.1628G>T
|
NP_001361428.1:p.Trp543Leu
|
|
|
NM_001374500.1:c.1514G>T
|
NP_001361429.1:p.Trp505Leu
|
|
|
NM_001374501.1:c.1544G>T
|
NP_001361430.1:p.Trp515Leu
|
|
|
NM_001374502.1:c.1544G>T
|
NP_001361431.1:p.Trp515Leu
|
|
|
NM_001374503.1:c.1544G>T
|
NP_001361432.1:p.Trp515Leu
|
|
|
NR_164653.1:n.2052G>T
|
|
|
|
NR_164654.1:n.2320G>T
|
|
|
