ENST00000699927.1:n.328A>T
(MASP2)
|
|
|
ENST00000699958.1:c.1284A>T
(MASP2)
|
ENSP00000514717.1:p.Leu428Phe
|
|
ENST00000700088.1:c.1298-709A>T
(MASP2)
|
ENSP00000514787.1:n.1298-709A>T
|
|
ENST00000700089.1:c.1386A>T
(MASP2)
|
ENSP00000514788.1:n.1386A>T
|
|
ENST00000700090.1:c.1268A>T
(MASP2)
|
ENSP00000514789.1:n.1268A>T
|
|
ENST00000700091.1:c.1191A>T
(MASP2)
|
ENSP00000514790.1:p.Leu397Phe
|
|
ENST00000700092.1:c.1368A>T
(MASP2)
|
ENSP00000514791.1:p.Leu456Phe
|
|
ENST00000700093.1:c.1365A>T
(MASP2)
|
ENSP00000514792.1:p.Leu455Phe
|
|
ENST00000700094.1:c.1397A>T
(MASP2)
|
ENSP00000514793.1:n.1397A>T
|
|
ENST00000700095.1:c.1298-709A>T
(MASP2)
|
ENSP00000514794.1:n.1298-709A>T
|
|
ENST00000700096.1:c.1101-709A>T
(MASP2)
|
ENSP00000514795.1:n.1101-709A>T
|
|
ENST00000700097.1:c.1417A>T
(MASP2)
|
ENSP00000514796.1:n.1417A>T
|
|
ENST00000400897.8:c.1389A>T
(MASP2)
MANE Select
|
ENSP00000383690.3:p.Leu463Phe
|
|
ENST00000400897.7:c.1389A>T
(MASP2)
|
ENSP00000383690.3:p.Leu463Phe
|
|
ENST00000611136.4:c.448+2349T>A
|
|
|
ENST00000612542.1:c.206+2349T>A
|
|
|
ENST00000614757.4:c.*452+2349T>A
|
ENSP00000481867.1:n.*452+2349T>A
|
|
ENST00000620028.1:n.416+2349T>A
|
|
|
ENST00000622108.1:c.232-2130T>A
|
ENSP00000480398.1:n.232-2130T>A
|
|
NM_006610.3:c.1389A>T
(MASP2)
|
NP_006601.2:p.Leu463Phe
|
|
XM_017000863.2:c.*3011+1892T>A
(TARDBP)
|
XP_016856352.1:n.*3011+1892T>A
|
|
XM_017000864.2:c.*1895+1892T>A
(TARDBP)
|
XP_016856353.1:n.*1895+1892T>A
|
|
XM_017000865.2:c.*1781-2130T>A
(TARDBP)
|
XP_016856354.1:n.*1781-2130T>A
|
|
NM_006610.4:c.1389A>T
(MASP2)
MANE Select
|
NP_006601.2:p.Leu463Phe
|
|