|
ENST00000509514.6:c.709_712del
|
ENSP00000426272.2:p.Phe237ArgfsTer20
|
|
|
ENST00000518349.6:c.113-7265_113-7262del
|
ENSP00000507185.1:n.113-7265_113-7262del
|
|
|
ENST00000682445.1:c.*590_*593del
|
ENSP00000508061.1:n.*590_*593del
|
|
|
ENST00000682531.1:n.810_813del
|
|
|
|
ENST00000682626.1:c.*215_*218del
|
ENSP00000507857.1:n.*215_*218del
|
|
|
ENST00000682996.1:c.709_712del
|
ENSP00000507792.1:p.Phe237ArgfsTer20
|
|
|
ENST00000683265.1:n.802_805del
|
|
|
|
ENST00000683371.1:c.*839_*842del
|
ENSP00000508376.1:n.*839_*842del
|
|
|
ENST00000683390.1:n.2399_2402del
|
|
|
|
ENST00000683549.1:n.630_633del
|
|
|
|
ENST00000683936.1:c.*594_*597del
|
ENSP00000507721.1:n.*594_*597del
|
|
|
ENST00000683974.1:n.791_794del
|
|
|
|
ENST00000683996.1:c.298_301del
|
ENSP00000507060.1:p.Phe100ArgfsTer20
|
|
|
ENST00000684131.1:n.548_551del
|
|
|
|
ENST00000684160.1:c.*399_*402del
|
ENSP00000507821.1:n.*399_*402del
|
|
|
ENST00000684214.1:c.709_712del
|
ENSP00000508071.1:p.Phe237ArgfsTer20
|
|
|
ENST00000414835.7:c.784_787del
|
ENSP00000411960.3:p.Phe262ArgfsTer20
|
|
|
ENST00000510025.7:c.709_712del
MANE Select
|
ENSP00000424940.3:p.Phe237ArgfsTer20
|
|
|
ENST00000643250.1:c.*581_*584del
|
ENSP00000494737.1:n.*581_*584del
|
|
|
ENST00000644146.1:c.*287_*290del
|
ENSP00000494808.1:n.*287_*290del
|
|
|
ENST00000645099.1:c.268_271del
|
ENSP00000496091.1:p.Phe90ArgfsTer20
|
|
|
ENST00000645702.1:c.*112_*115del
|
ENSP00000496432.1:n.*112_*115del
|
|
|
ENST00000645832.1:c.*594_*597del
|
ENSP00000494316.1:n.*594_*597del
|
|
|
ENST00000646058.1:c.709_712del
|
ENSP00000493579.1:p.Phe237ArgfsTer20
|
|
|
ENST00000646355.1:c.*715_*718del
|
ENSP00000493801.1:n.*715_*718del
|
|
|
ENST00000646554.1:c.*687_*690del
|
ENSP00000494542.1:n.*687_*690del
|
|
|
ENST00000647335.1:c.*676_*679del
|
ENSP00000495180.1:n.*676_*679del
|
|
|
ENST00000647342.1:c.*640_*643del
|
ENSP00000494992.1:n.*640_*643del
|
|
|
ENST00000256216.10:c.709_712del
|
ENSP00000256216.6:p.Phe237ArgfsTer20
|
|
|
ENST00000414835.6:c.289_292del
|
ENSP00000411960.2:p.Phe97ArgfsTer20
|
|
|
ENST00000442060.7:c.709_712del
|
ENSP00000390208.3:p.Phe237ArgfsTer20
|
|
|
ENST00000504811.5:c.784_787del
|
ENSP00000420914.1:p.Phe262ArgfsTer20
|
|
|
ENST00000505181.5:n.412_415del
|
|
|
|
ENST00000509514.5:c.-176_-173del
|
ENSP00000426272.1:n.-176_-173del
|
|
|
ENST00000510025.5:c.637_640del
|
ENSP00000424940.1:p.Phe213ArgfsTer20
|
|
|
ENST00000512644.1:n.277_280del
|
|
|
|
ENST00000513628.5:c.298_301del
|
ENSP00000425993.1:p.Phe100ArgfsTer20
|
|
|
ENST00000515235.6:n.769_772del
|
|
|
|
ENST00000515320.5:c.655_658del
|
ENSP00000424613.1:p.Phe219ArgfsTer20
|
|
|
NM_000414.3:c.709_712del
|
NP_000405.1:p.Phe237ArgfsTer20
|
|
|
NM_001199291.2:c.784_787del
|
NP_001186220.1:p.Phe262ArgfsTer20
|
|
|
NM_001199292.1:c.655_658del
|
NP_001186221.1:p.Phe219ArgfsTer20
|
|
|
NM_001292027.1:c.637_640del
|
NP_001278956.1:p.Phe213ArgfsTer20
|
|
|
NM_001292028.1:c.289_292del
|
NP_001278957.1:p.Phe97ArgfsTer20
|
|
|
NM_000414.4:c.709_712del
MANE Select
|
NP_000405.1:p.Phe237ArgfsTer20
|
|
|
NM_001199291.3:c.784_787del
|
NP_001186220.1:p.Phe262ArgfsTer20
|
|
|
NM_001199292.2:c.655_658del
|
NP_001186221.1:p.Phe219ArgfsTer20
|
|
|
NM_001292027.2:c.637_640del
|
NP_001278956.1:p.Phe213ArgfsTer20
|
|
|
NM_001292028.2:c.289_292del
|
NP_001278957.1:p.Phe97ArgfsTer20
|
|
|
NM_001374497.1:c.700_703del
|
NP_001361426.1:p.Phe234ArgfsTer20
|
|
|
NM_001374498.1:c.709_712del
|
NP_001361427.1:p.Phe237ArgfsTer20
|
|
|
NM_001374499.1:c.382_385del
|
NP_001361428.1:p.Phe128ArgfsTer20
|
|
|
NM_001374500.1:c.268_271del
|
NP_001361429.1:p.Phe90ArgfsTer20
|
|
|
NM_001374501.1:c.298_301del
|
NP_001361430.1:p.Phe100ArgfsTer20
|
|
|
NM_001374502.1:c.298_301del
|
NP_001361431.1:p.Phe100ArgfsTer20
|
|
|
NM_001374503.1:c.298_301del
|
NP_001361432.1:p.Phe100ArgfsTer20
|
|
|
NR_164653.1:n.788_791del
|
|
|
|
NR_164654.1:n.976_979del
|
|
|
