|
ENST00000699927.1:n.279del
(MASP2)
|
|
|
|
ENST00000699958.1:c.1235del
(MASP2)
|
ENSP00000514717.1:p.Gly412GlufsTer15
|
|
|
ENST00000700088.1:c.1298-758del
(MASP2)
|
ENSP00000514787.1:n.1298-758del
|
|
|
ENST00000700089.1:c.1337del
(MASP2)
|
ENSP00000514788.1:n.1337del
|
|
|
ENST00000700090.1:c.1219del
(MASP2)
|
ENSP00000514789.1:n.1219del
|
|
|
ENST00000700091.1:c.1142del
(MASP2)
|
ENSP00000514790.1:p.Gly381GlufsTer15
|
|
|
ENST00000700092.1:c.1319del
(MASP2)
|
ENSP00000514791.1:p.Gly440GlufsTer15
|
|
|
ENST00000700093.1:c.1316del
(MASP2)
|
ENSP00000514792.1:p.Gly439GlufsTer15
|
|
|
ENST00000700094.1:c.1348del
(MASP2)
|
ENSP00000514793.1:n.1348del
|
|
|
ENST00000700095.1:c.1298-758del
(MASP2)
|
ENSP00000514794.1:n.1298-758del
|
|
|
ENST00000700096.1:c.1101-758del
(MASP2)
|
ENSP00000514795.1:n.1101-758del
|
|
|
ENST00000700097.1:c.1368del
(MASP2)
|
ENSP00000514796.1:p.Trp456Ter
|
|
|
ENST00000400897.8:c.1340del
(MASP2)
MANE Select
|
ENSP00000383690.3:p.Gly447GlufsTer15
|
|
|
ENST00000400897.7:c.1340del
(MASP2)
|
ENSP00000383690.3:p.Gly447GlufsTer15
|
|
|
ENST00000611136.4:c.448+2399del
|
|
|
|
ENST00000612542.1:c.206+2399del
|
|
|
|
ENST00000614757.4:c.*452+2399del
|
ENSP00000481867.1:n.*452+2399del
|
|
|
ENST00000620028.1:n.416+2399del
|
|
|
|
ENST00000622108.1:c.232-2080del
|
ENSP00000480398.1:n.232-2080del
|
|
|
NM_006610.3:c.1340del
(MASP2)
|
NP_006601.2:p.Gly447GlufsTer15
|
|
|
XM_017000863.2:c.*3011+1942del
(TARDBP)
|
XP_016856352.1:n.*3011+1942del
|
|
|
XM_017000864.2:c.*1895+1942del
(TARDBP)
|
XP_016856353.1:n.*1895+1942del
|
|
|
XM_017000865.2:c.*1781-2080del
(TARDBP)
|
XP_016856354.1:n.*1781-2080del
|
|
|
NM_006610.4:c.1340del
(MASP2)
MANE Select
|
NP_006601.2:p.Gly447GlufsTer15
|
|
