ENST00000699927.1:n.445G>C
(MASP2)
|
|
|
ENST00000699958.1:c.1401G>C
(MASP2)
|
ENSP00000514717.1:p.Leu467=
|
|
ENST00000700088.1:c.1298-592G>C
(MASP2)
|
ENSP00000514787.1:n.1298-592G>C
|
|
ENST00000700089.1:c.1503G>C
(MASP2)
|
ENSP00000514788.1:n.1503G>C
|
|
ENST00000700090.1:c.1385G>C
(MASP2)
|
ENSP00000514789.1:n.1385G>C
|
|
ENST00000700091.1:c.1308G>C
(MASP2)
|
ENSP00000514790.1:p.Leu436=
|
|
ENST00000700092.1:c.1485G>C
(MASP2)
|
ENSP00000514791.1:p.Leu495=
|
|
ENST00000700093.1:c.1482G>C
(MASP2)
|
ENSP00000514792.1:p.Leu494=
|
|
ENST00000700094.1:c.1514G>C
(MASP2)
|
ENSP00000514793.1:n.1514G>C
|
|
ENST00000700095.1:c.1298-592G>C
(MASP2)
|
ENSP00000514794.1:n.1298-592G>C
|
|
ENST00000700096.1:c.1101-592G>C
(MASP2)
|
ENSP00000514795.1:n.1101-592G>C
|
|
ENST00000700097.1:c.1534G>C
(MASP2)
|
ENSP00000514796.1:n.1534G>C
|
|
ENST00000400897.8:c.1506G>C
(MASP2)
MANE Select
|
ENSP00000383690.3:p.Leu502=
|
|
ENST00000400897.7:c.1506G>C
(MASP2)
|
ENSP00000383690.3:p.Leu502=
|
|
ENST00000611136.4:c.448+2232C>G
|
|
|
ENST00000612542.1:c.206+2232C>G
|
|
|
ENST00000614757.4:c.*452+2232C>G
|
ENSP00000481867.1:n.*452+2232C>G
|
|
ENST00000620028.1:n.416+2232C>G
|
|
|
ENST00000622108.1:c.231+2232C>G
|
ENSP00000480398.1:n.231+2232C>G
|
|
NM_006610.3:c.1506G>C
(MASP2)
|
NP_006601.2:p.Leu502=
|
|
XM_017000863.2:c.*3011+1775C>G
(TARDBP)
|
XP_016856352.1:n.*3011+1775C>G
|
|
XM_017000864.2:c.*1895+1775C>G
(TARDBP)
|
XP_016856353.1:n.*1895+1775C>G
|
|
XM_017000865.2:c.*1780+2232C>G
(TARDBP)
|
XP_016856354.1:n.*1780+2232C>G
|
|
NM_006610.4:c.1506G>C
(MASP2)
MANE Select
|
NP_006601.2:p.Leu502=
|
|