|
ENST00000699927.1:n.347_352del
(MASP2)
|
|
|
|
ENST00000699958.1:c.1303_1308del
(MASP2)
|
ENSP00000514717.1:p.Gly435_Ala436del
|
|
|
ENST00000700088.1:c.1298-690_1298-685del
(MASP2)
|
ENSP00000514787.1:n.1298-690_1298-685del
|
|
|
ENST00000700089.1:c.1405_1410del
(MASP2)
|
ENSP00000514788.1:n.1405_1410del
|
|
|
ENST00000700090.1:c.1287_1292del
(MASP2)
|
ENSP00000514789.1:n.1287_1292del
|
|
|
ENST00000700091.1:c.1210_1215del
(MASP2)
|
ENSP00000514790.1:p.Gly404_Ala405del
|
|
|
ENST00000700092.1:c.1387_1392del
(MASP2)
|
ENSP00000514791.1:p.Gly463_Ala464del
|
|
|
ENST00000700093.1:c.1384_1389del
(MASP2)
|
ENSP00000514792.1:p.Gly462_Ala463del
|
|
|
ENST00000700094.1:c.1416_1421del
(MASP2)
|
ENSP00000514793.1:n.1416_1421del
|
|
|
ENST00000700095.1:c.1298-690_1298-685del
(MASP2)
|
ENSP00000514794.1:n.1298-690_1298-685del
|
|
|
ENST00000700096.1:c.1101-690_1101-685del
(MASP2)
|
ENSP00000514795.1:n.1101-690_1101-685del
|
|
|
ENST00000700097.1:c.1436_1441del
(MASP2)
|
ENSP00000514796.1:n.1436_1441del
|
|
|
ENST00000400897.8:c.1408_1413del
(MASP2)
MANE Select
|
ENSP00000383690.3:p.Gly470_Ala471del
|
|
|
ENST00000400897.7:c.1408_1413del
(MASP2)
|
ENSP00000383690.3:p.Gly470_Ala471del
|
|
|
ENST00000611136.4:c.448+2328_448+2333del
|
|
|
|
ENST00000612542.1:c.206+2328_206+2333del
|
|
|
|
ENST00000614757.4:c.*452+2328_*452+2333del
|
ENSP00000481867.1:n.*452+2328_*452+2333del
|
|
|
ENST00000620028.1:n.416+2328_416+2333del
|
|
|
|
ENST00000622108.1:c.232-2151_232-2146del
|
ENSP00000480398.1:n.232-2151_232-2146del
|
|
|
NM_006610.3:c.1408_1413del
(MASP2)
|
NP_006601.2:p.Gly470_Ala471del
|
|
|
XM_017000863.2:c.*3011+1871_*3011+1876del
(TARDBP)
|
XP_016856352.1:n.*3011+1871_*3011+1876del
|
|
|
XM_017000864.2:c.*1895+1871_*1895+1876del
(TARDBP)
|
XP_016856353.1:n.*1895+1871_*1895+1876del
|
|
|
XM_017000865.2:c.*1781-2151_*1781-2146del
(TARDBP)
|
XP_016856354.1:n.*1781-2151_*1781-2146del
|
|
|
NM_006610.4:c.1408_1413del
(MASP2)
MANE Select
|
NP_006601.2:p.Gly470_Ala471del
|
|
