|
ENST00000699927.1:n.339_340dup
(MASP2)
|
|
|
|
ENST00000699958.1:c.1295_1296dup
(MASP2)
|
ENSP00000514717.1:p.Ala433GlnfsTer13
|
|
|
ENST00000700088.1:c.1298-698_1298-697dup
(MASP2)
|
ENSP00000514787.1:n.1298-698_1298-697dup
|
|
|
ENST00000700089.1:c.1397_1398dup
(MASP2)
|
ENSP00000514788.1:n.1397_1398dup
|
|
|
ENST00000700090.1:c.1279_1280dup
(MASP2)
|
ENSP00000514789.1:n.1279_1280dup
|
|
|
ENST00000700091.1:c.1202_1203dup
(MASP2)
|
ENSP00000514790.1:p.Ala402GlnfsTer13
|
|
|
ENST00000700092.1:c.1379_1380dup
(MASP2)
|
ENSP00000514791.1:p.Ala461GlnfsTer13
|
|
|
ENST00000700093.1:c.1376_1377dup
(MASP2)
|
ENSP00000514792.1:p.Ala460GlnfsTer13
|
|
|
ENST00000700094.1:c.1408_1409dup
(MASP2)
|
ENSP00000514793.1:n.1408_1409dup
|
|
|
ENST00000700095.1:c.1298-698_1298-697dup
(MASP2)
|
ENSP00000514794.1:n.1298-698_1298-697dup
|
|
|
ENST00000700096.1:c.1101-698_1101-697dup
(MASP2)
|
ENSP00000514795.1:n.1101-698_1101-697dup
|
|
|
ENST00000700097.1:c.1428_1429dup
(MASP2)
|
ENSP00000514796.1:n.1428_1429dup
|
|
|
ENST00000400897.8:c.1400_1401dup
(MASP2)
MANE Select
|
ENSP00000383690.3:p.Ala468GlnfsTer13
|
|
|
ENST00000400897.7:c.1400_1401dup
(MASP2)
|
ENSP00000383690.3:p.Ala468GlnfsTer13
|
|
|
ENST00000611136.4:c.448+2339_448+2340dup
|
|
|
|
ENST00000612542.1:c.206+2339_206+2340dup
|
|
|
|
ENST00000614757.4:c.*452+2339_*452+2340dup
|
ENSP00000481867.1:n.*452+2339_*452+2340dup
|
|
|
ENST00000620028.1:n.416+2339_416+2340dup
|
|
|
|
ENST00000622108.1:c.232-2140_232-2139dup
|
ENSP00000480398.1:n.232-2140_232-2139dup
|
|
|
NM_006610.3:c.1400_1401dup
(MASP2)
|
NP_006601.2:p.Ala468GlnfsTer13
|
|
|
XM_017000863.2:c.*3011+1882_*3011+1883dup
(TARDBP)
|
XP_016856352.1:n.*3011+1882_*3011+1883dup
|
|
|
XM_017000864.2:c.*1895+1882_*1895+1883dup
(TARDBP)
|
XP_016856353.1:n.*1895+1882_*1895+1883dup
|
|
|
XM_017000865.2:c.*1781-2140_*1781-2139dup
(TARDBP)
|
XP_016856354.1:n.*1781-2140_*1781-2139dup
|
|
|
NM_006610.4:c.1400_1401dup
(MASP2)
MANE Select
|
NP_006601.2:p.Ala468GlnfsTer13
|
|
