|
ENST00000492931.6:n.1172C>T
(ADA)
|
|
|
|
ENST00000536076.2:c.852C>T
(ADA)
|
ENSP00000512234.1:p.Leu284=
|
|
|
ENST00000536532.6:c.*148C>T
(ADA)
|
ENSP00000440946.1:n.*148C>T
|
|
|
ENST00000537820.2:c.933C>T
(ADA)
|
ENSP00000441818.1:p.Leu311=
|
|
|
ENST00000539235.6:c.*389C>T
(ADA)
|
ENSP00000446464.1:n.*389C>T
|
|
|
ENST00000695889.1:c.480C>T
(ADA)
|
ENSP00000512240.1:p.Leu160=
|
|
|
ENST00000695890.1:n.5116C>T
(ADA)
|
|
|
|
ENST00000695891.1:c.545C>T
(ADA)
|
ENSP00000512241.1:n.545C>T
|
|
|
ENST00000695927.1:c.1083C>T
(ADA)
|
ENSP00000512270.1:p.Leu361=
|
|
|
ENST00000695949.1:c.930C>T
(ADA)
|
ENSP00000512281.1:p.Leu310=
|
|
|
ENST00000695956.1:c.160C>T
(ADA)
|
|
|
|
ENST00000695957.1:c.*496C>T
(ADA)
|
ENSP00000512286.1:n.*496C>T
|
|
|
ENST00000695991.1:c.543C>T
(ADA)
|
ENSP00000512314.1:p.Leu181=
|
|
|
ENST00000695992.1:c.*148C>T
(ADA)
|
ENSP00000512315.1:n.*148C>T
|
|
|
ENST00000695993.1:c.1005C>T
(ADA)
|
ENSP00000512316.1:p.Leu335=
|
|
|
ENST00000695994.1:c.*148C>T
(ADA)
|
ENSP00000512317.1:n.*148C>T
|
|
|
ENST00000695995.1:c.615C>T
(ADA)
|
ENSP00000512318.1:p.Leu205=
|
|
|
ENST00000695996.1:n.1087C>T
(ADA)
|
|
|
|
ENST00000696003.1:n.2789C>T
(ADA)
|
|
|
|
ENST00000696004.1:n.1789C>T
(ADA)
|
|
|
|
ENST00000696005.1:c.455C>T
(ADA)
|
|
|
|
ENST00000696006.1:c.*148C>T
(ADA)
|
ENSP00000512325.1:n.*148C>T
|
|
|
ENST00000696007.1:c.932C>T
(ADA)
|
ENSP00000512326.1:n.932C>T
|
|
|
ENST00000696008.1:n.3359C>T
(ADA)
|
|
|
|
ENST00000696017.1:c.1002C>T
(ADA)
|
ENSP00000512333.1:p.Leu334=
|
|
|
ENST00000696034.1:c.*148C>T
(ADA)
|
ENSP00000512343.1:n.*148C>T
|
|
|
ENST00000696035.1:n.1191C>T
(ADA)
|
|
|
|
ENST00000696036.1:n.1706C>T
(ADA)
|
|
|
|
ENST00000696037.1:n.2682C>T
(ADA)
|
|
|
|
ENST00000696038.1:c.*762C>T
(ADA)
|
ENSP00000512344.1:n.*762C>T
|
|
|
ENST00000696039.1:n.1369C>T
(ADA)
|
|
|
|
ENST00000696058.1:c.1002C>T
(ADA)
|
ENSP00000512361.1:p.Leu334=
|
|
|
ENST00000696059.1:c.*950C>T
(ADA)
|
ENSP00000512362.1:n.*950C>T
|
|
|
ENST00000696060.1:c.1074C>T
(ADA)
|
ENSP00000512363.1:p.Leu358=
|
|
|
ENST00000696061.1:c.1002C>T
(ADA)
|
ENSP00000512364.1:p.Leu334=
|
|
|
ENST00000696062.1:c.1068C>T
(ADA)
|
ENSP00000512365.1:p.Leu356=
|
|
|
ENST00000696063.1:c.1080C>T
(ADA)
|
ENSP00000512366.1:p.Leu360=
|
|
|
ENST00000696064.1:c.852C>T
(ADA)
|
ENSP00000512367.1:p.Leu284=
|
|
|
ENST00000696065.1:c.327C>T
(ADA)
|
ENSP00000512368.1:p.Leu109=
|
|
|
ENST00000696072.1:n.360C>T
(ADA)
|
|
|
|
ENST00000696073.1:n.1316C>T
(ADA)
|
|
|
|
ENST00000696074.1:n.556C>T
(ADA)
|
|
|
|
ENST00000696075.1:c.*975C>T
(ADA)
|
ENSP00000512374.1:n.*975C>T
|
|
|
ENST00000696076.1:c.1074C>T
(ADA)
|
ENSP00000512375.1:p.Leu358=
|
|
|
ENST00000696077.1:c.999C>T
(ADA)
|
ENSP00000512376.1:p.Leu333=
|
|
|
ENST00000696078.1:c.1002C>T
(ADA)
|
ENSP00000512377.1:p.Leu334=
|
|
|
ENST00000696079.1:c.1002C>T
(ADA)
|
ENSP00000512378.1:p.Leu334=
|
|
|
ENST00000696080.1:c.1005C>T
(ADA)
|
ENSP00000512379.1:p.Leu335=
|
|
|
ENST00000696081.1:n.1124C>T
(ADA)
|
|
|
|
ENST00000696082.1:c.1080C>T
(ADA)
|
ENSP00000512380.1:p.Leu360=
|
|
|
ENST00000696083.1:n.1962C>T
(ADA)
|
|
|
|
ENST00000696084.1:n.1182C>T
(ADA)
|
|
|
|
ENST00000696104.1:c.*74C>T
(ADA)
|
ENSP00000512399.1:n.*74C>T
|
|
|
ENST00000372874.9:c.1005C>T
(ADA)
MANE Select
|
ENSP00000361965.4:p.Leu335=
|
|
|
ENST00000372874.8:c.1005C>T
(ADA)
|
ENSP00000361965.4:p.Leu335=
|
|
|
ENST00000372887.5:c.152-3561G>A
(PKIG)
|
ENSP00000361978.1:n.152-3561G>A
|
|
|
ENST00000464097.5:n.1371C>T
(ADA)
|
|
|
|
ENST00000492931.5:n.1165C>T
(ADA)
|
|
|
|
ENST00000536532.5:c.*148C>T
(ADA)
|
ENSP00000440946.1:n.*148C>T
|
|
|
ENST00000537820.1:c.933C>T
(ADA)
|
ENSP00000441818.1:p.Leu311=
|
|
|
ENST00000539235.5:c.*389C>T
(ADA)
|
ENSP00000446464.1:n.*389C>T
|
|
|
NM_000022.2:c.1005C>T , LRG_16t1:c.1005C>T
(ADA)
|
NP_000013.2:p.Leu335=
|
|
|
XM_005260236.2:c.933C>T
(ADA)
|
XP_005260293.1:p.Leu311=
|
|
|
XM_011528478.1:c.600C>T
(ADA)
|
XP_011526780.1:p.Leu200=
|
|
|
XM_011528479.1:c.600C>T
(ADA)
|
XP_011526781.1:p.Leu200=
|
|
|
XR_244129.1:n.994C>T
(ADA)
|
|
|
|
NM_000022.3:c.1005C>T
(ADA)
|
NP_000013.2:p.Leu335=
|
|
|
NM_001322050.1:c.600C>T
(ADA)
|
NP_001308979.1:p.Leu200=
|
|
|
NM_001322051.1:c.933C>T
(ADA)
|
NP_001308980.1:p.Leu311=
|
|
|
NR_136160.1:n.1091C>T
(ADA)
|
|
|
|
NM_000022.4:c.1005C>T
(ADA)
MANE Select
|
NP_000013.2:p.Leu335=
|
|
|
NM_001322050.2:c.600C>T
(ADA)
|
NP_001308979.1:p.Leu200=
|
|
|
NM_001322051.2:c.933C>T
(ADA)
|
NP_001308980.1:p.Leu311=
|
|
|
NR_136160.2:n.1032C>T
(ADA)
|
|
|
