|
ENST00000453170.6:c.331G>T
|
ENSP00000406377.2:p.Val111Leu
|
|
|
ENST00000458496.2:c.331G>T
|
ENSP00000403233.2:p.Val111Leu
|
|
|
ENST00000524672.3:n.896G>T
|
|
|
|
ENST00000700520.1:c.*168G>T
|
ENSP00000515027.1:n.*168G>T
|
|
|
ENST00000700521.1:c.*211G>T
|
ENSP00000515028.1:n.*211G>T
|
|
|
ENST00000700522.1:c.*211G>T
|
ENSP00000515029.1:n.*211G>T
|
|
|
ENST00000700523.1:c.28G>T
|
ENSP00000515030.1:p.Val10Leu
|
|
|
ENST00000700524.1:c.28G>T
|
ENSP00000515031.1:p.Val10Leu
|
|
|
ENST00000700525.1:n.1436G>T
|
|
|
|
ENST00000304363.9:c.544G>T
MANE Select
|
ENSP00000305899.4:p.Val182Leu
|
|
|
ENST00000304363.8:c.544G>T
|
ENSP00000305899.4:p.Val182Leu
|
|
|
ENST00000323599.10:c.324G>T
|
|
|
|
ENST00000401547.6:c.544G>T
|
ENSP00000385965.2:p.Val182Leu
|
|
|
ENST00000402185.6:c.475G>T
|
ENSP00000384724.2:p.Val159Leu
|
|
|
ENST00000402789.5:c.544G>T
|
ENSP00000385005.1:p.Val182Leu
|
|
|
ENST00000405515.5:c.544G>T
|
ENSP00000385640.1:p.Val182Leu
|
|
|
ENST00000427752.6:c.*132G>T
|
ENSP00000387685.2:n.*132G>T
|
|
|
ENST00000441488.6:c.544G>T
|
ENSP00000411146.2:p.Val182Leu
|
|
|
ENST00000453170.5:c.331G>T
|
ENSP00000406377.1:p.Val111Leu
|
|
|
ENST00000524672.2:n.520G>T
|
|
|
|
ENST00000533271.5:n.356G>T
|
|
|
|
ENST00000615954.4:c.544G>T
|
ENSP00000484858.1:p.Val182Leu
|
|
|
NM_001300907.1:c.28G>T
|
NP_001287836.1:p.Val10Leu
|
|
|
NM_001300908.1:c.-124G>T
|
NP_001287837.1:n.-124G>T
|
|
|
NM_001300909.1:c.475G>T
|
NP_001287838.1:p.Val159Leu
|
|
|
NM_016028.4:c.544G>T
|
NP_057112.3:p.Val182Leu
|
|
|
NM_017635.4:c.544G>T
|
NP_060105.3:p.Val182Leu
|
|
|
XM_005274035.2:c.544G>T
|
XP_005274092.2:p.Val182Leu
|
|
|
XM_005274036.2:c.475G>T
|
XP_005274093.2:p.Val159Leu
|
|
|
XM_005274037.1:c.28G>T
|
XP_005274094.1:p.Val10Leu
|
|
|
XM_006718581.1:c.475G>T
|
XP_006718644.1:p.Val159Leu
|
|
|
XM_011545091.1:c.544G>T
|
XP_011543393.1:p.Val182Leu
|
|
|
XM_011545092.1:c.331G>T
|
XP_011543394.1:p.Val111Leu
|
|
|
XM_011545093.1:c.-744G>T
|
XP_011543395.1:n.-744G>T
|
|
|
XM_011545094.1:c.544G>T
|
XP_011543396.1:p.Val182Leu
|
|
|
NM_001363566.1:c.544G>T
|
NP_001350495.1:p.Val182Leu
|
|
|
XM_005274035.4:c.544G>T
|
XP_005274092.2:p.Val182Leu
|
|
|
XM_005274036.4:c.475G>T
|
XP_005274093.2:p.Val159Leu
|
|
|
XM_006718581.2:c.475G>T
|
XP_006718644.1:p.Val159Leu
|
|
|
XM_011545092.3:c.331G>T
|
XP_011543394.1:p.Val111Leu
|
|
|
XM_017017876.2:c.28G>T
|
XP_016873365.1:p.Val10Leu
|
|
|
XM_017017877.2:c.28G>T
|
XP_016873366.1:p.Val10Leu
|
|
|
XM_017017878.2:c.28G>T
|
XP_016873367.1:p.Val10Leu
|
|
|
XM_017017879.2:c.28G>T
|
XP_016873368.1:p.Val10Leu
|
|
|
XM_024448570.1:c.-744G>T
|
XP_024304338.1:n.-744G>T
|
|
|
NM_017635.5:c.544G>T
MANE Select
|
NP_060105.3:p.Val182Leu
|
|
|
NM_001300908.2:c.-124G>T
|
NP_001287837.1:n.-124G>T
|
|
|
NM_001300909.2:c.475G>T
|
NP_001287838.1:p.Val159Leu
|
|
|
NM_001363566.2:c.544G>T
|
NP_001350495.1:p.Val182Leu
|
|
|
NM_001369424.1:c.28G>T
|
NP_001356353.1:p.Val10Leu
|
|
|
NM_001369425.1:c.331G>T
|
NP_001356354.1:p.Val111Leu
|
|
|
NM_001369426.1:c.544G>T
|
NP_001356355.1:p.Val182Leu
|
|
|
NM_001369427.1:c.544G>T
|
NP_001356356.1:p.Val182Leu
|
|
|
NM_001369428.1:c.28G>T
|
NP_001356357.1:p.Val10Leu
|
|
|
NM_001369429.1:c.28G>T
|
NP_001356358.1:p.Val10Leu
|
|
|
NM_001369430.1:c.28G>T
|
NP_001356359.1:p.Val10Leu
|
|
|
NM_001369431.1:c.28G>T
|
NP_001356360.1:p.Val10Leu
|
|
|
NM_001369432.1:c.28G>T
|
NP_001356361.1:p.Val10Leu
|
|
|
NM_001369433.1:c.28G>T
|
NP_001356362.1:p.Val10Leu
|
|
|
NR_161378.1:n.792G>T
|
|
|
|
NR_161379.1:n.792G>T
|
|
|
|
NR_161380.1:n.1153G>T
|
|
|
