|
ENST00000492931.6:n.868A>C
(ADA)
|
|
|
|
ENST00000536076.2:c.548A>C
(ADA)
|
ENSP00000512234.1:p.Glu183Ala
|
|
|
ENST00000536532.6:c.701A>C
(ADA)
|
ENSP00000440946.1:p.Glu234Ala
|
|
|
ENST00000537820.2:c.629A>C
(ADA)
|
ENSP00000441818.1:p.Glu210Ala
|
|
|
ENST00000539235.6:c.*85A>C
(ADA)
|
ENSP00000446464.1:n.*85A>C
|
|
|
ENST00000695889.1:c.241A>C
(ADA)
|
ENSP00000512240.1:p.Ser81Arg
|
|
|
ENST00000695890.1:n.2580A>C
(ADA)
|
|
|
|
ENST00000695891.1:c.241A>C
(ADA)
|
ENSP00000512241.1:p.Ser81Arg
|
|
|
ENST00000695927.1:c.779A>C
(ADA)
|
ENSP00000512270.1:p.Glu260Ala
|
|
|
ENST00000695949.1:c.626A>C
(ADA)
|
ENSP00000512281.1:p.Glu209Ala
|
|
|
ENST00000695957.1:c.*192A>C
(ADA)
|
ENSP00000512286.1:n.*192A>C
|
|
|
ENST00000695991.1:c.239A>C
(ADA)
|
ENSP00000512314.1:p.Glu80Ala
|
|
|
ENST00000695992.1:c.701A>C
(ADA)
|
ENSP00000512315.1:p.Glu234Ala
|
|
|
ENST00000695993.1:c.701A>C
(ADA)
|
ENSP00000512316.1:p.Glu234Ala
|
|
|
ENST00000695994.1:c.674A>C
(ADA)
|
ENSP00000512317.1:p.Glu225Ala
|
|
|
ENST00000695995.1:c.311A>C
(ADA)
|
ENSP00000512318.1:p.Glu104Ala
|
|
|
ENST00000695996.1:n.848A>C
(ADA)
|
|
|
|
ENST00000696003.1:n.869A>C
(ADA)
|
|
|
|
ENST00000696004.1:n.869A>C
(ADA)
|
|
|
|
ENST00000696005.1:c.151A>C
(ADA)
|
|
|
|
ENST00000696006.1:c.629A>C
(ADA)
|
ENSP00000512325.1:p.Glu210Ala
|
|
|
ENST00000696007.1:c.628A>C
(ADA)
|
ENSP00000512326.1:n.628A>C
|
|
|
ENST00000696008.1:n.3055A>C
(ADA)
|
|
|
|
ENST00000696017.1:c.698A>C
(ADA)
|
ENSP00000512333.1:p.Glu233Ala
|
|
|
ENST00000696034.1:c.701A>C
(ADA)
|
ENSP00000512343.1:p.Glu234Ala
|
|
|
ENST00000696035.1:n.887A>C
(ADA)
|
|
|
|
ENST00000696036.1:n.1467A>C
(ADA)
|
|
|
|
ENST00000696037.1:n.2378A>C
(ADA)
|
|
|
|
ENST00000696038.1:c.*523A>C
(ADA)
|
ENSP00000512344.1:n.*523A>C
|
|
|
ENST00000696039.1:n.1065A>C
(ADA)
|
|
|
|
ENST00000696058.1:c.698A>C
(ADA)
|
ENSP00000512361.1:p.Glu233Ala
|
|
|
ENST00000696059.1:c.*646A>C
(ADA)
|
ENSP00000512362.1:n.*646A>C
|
|
|
ENST00000696060.1:c.770A>C
(ADA)
|
ENSP00000512363.1:p.Glu257Ala
|
|
|
ENST00000696061.1:c.698A>C
(ADA)
|
ENSP00000512364.1:p.Glu233Ala
|
|
|
ENST00000696062.1:c.764A>C
(ADA)
|
ENSP00000512365.1:p.Glu255Ala
|
|
|
ENST00000696063.1:c.776A>C
(ADA)
|
ENSP00000512366.1:p.Glu259Ala
|
|
|
ENST00000696064.1:c.548A>C
(ADA)
|
ENSP00000512367.1:p.Glu183Ala
|
|
|
ENST00000696065.1:c.88A>C
(ADA)
|
ENSP00000512368.1:p.Ser30Arg
|
|
|
ENST00000696073.1:n.1012A>C
(ADA)
|
|
|
|
ENST00000696074.1:n.317A>C
(ADA)
|
|
|
|
ENST00000696075.1:c.*671A>C
(ADA)
|
ENSP00000512374.1:n.*671A>C
|
|
|
ENST00000696076.1:c.770A>C
(ADA)
|
ENSP00000512375.1:p.Glu257Ala
|
|
|
ENST00000696077.1:c.695A>C
(ADA)
|
ENSP00000512376.1:p.Glu232Ala
|
|
|
ENST00000696078.1:c.698A>C
(ADA)
|
ENSP00000512377.1:p.Glu233Ala
|
|
|
ENST00000696079.1:c.698A>C
(ADA)
|
ENSP00000512378.1:p.Glu233Ala
|
|
|
ENST00000696080.1:c.701A>C
(ADA)
|
ENSP00000512379.1:p.Glu234Ala
|
|
|
ENST00000696081.1:n.820A>C
(ADA)
|
|
|
|
ENST00000696082.1:c.776A>C
(ADA)
|
ENSP00000512380.1:p.Glu259Ala
|
|
|
ENST00000696083.1:n.1658A>C
(ADA)
|
|
|
|
ENST00000696084.1:n.878A>C
(ADA)
|
|
|
|
ENST00000696104.1:c.385A>C
(ADA)
|
ENSP00000512399.1:p.Ser129Arg
|
|
|
ENST00000372874.9:c.701A>C
(ADA)
MANE Select
|
ENSP00000361965.4:p.Glu234Ala
|
|
|
ENST00000372874.8:c.701A>C
(ADA)
|
ENSP00000361965.4:p.Glu234Ala
|
|
|
ENST00000372887.5:c.152-1025T>G
(PKIG)
|
ENSP00000361978.1:n.152-1025T>G
|
|
|
ENST00000464097.5:n.451A>C
(ADA)
|
|
|
|
ENST00000492931.5:n.861A>C
(ADA)
|
|
|
|
ENST00000536532.5:c.701A>C
(ADA)
|
ENSP00000440946.1:p.Glu234Ala
|
|
|
ENST00000537820.1:c.629A>C
(ADA)
|
ENSP00000441818.1:p.Glu210Ala
|
|
|
ENST00000539235.5:c.*85A>C
(ADA)
|
ENSP00000446464.1:n.*85A>C
|
|
|
NM_000022.2:c.701A>C , LRG_16t1:c.701A>C
(ADA)
|
NP_000013.2:p.Glu234Ala
|
|
|
XM_005260236.2:c.629A>C
(ADA)
|
XP_005260293.1:p.Glu210Ala
|
|
|
XM_011528478.1:c.296A>C
(ADA)
|
XP_011526780.1:p.Glu99Ala
|
|
|
XM_011528479.1:c.296A>C
(ADA)
|
XP_011526781.1:p.Glu99Ala
|
|
|
XR_244129.1:n.755A>C
(ADA)
|
|
|
|
NM_000022.3:c.701A>C
(ADA)
|
NP_000013.2:p.Glu234Ala
|
|
|
NM_001322050.1:c.296A>C
(ADA)
|
NP_001308979.1:p.Glu99Ala
|
|
|
NM_001322051.1:c.629A>C
(ADA)
|
NP_001308980.1:p.Glu210Ala
|
|
|
NR_136160.1:n.852A>C
(ADA)
|
|
|
|
NM_000022.4:c.701A>C
(ADA)
MANE Select
|
NP_000013.2:p.Glu234Ala
|
|
|
NM_001322050.2:c.296A>C
(ADA)
|
NP_001308979.1:p.Glu99Ala
|
|
|
NM_001322051.2:c.629A>C
(ADA)
|
NP_001308980.1:p.Glu210Ala
|
|
|
NR_136160.2:n.793A>C
(ADA)
|
|
|
