|
ENST00000492931.6:n.924C>T
(ADA)
|
|
|
|
ENST00000536076.2:c.604C>T
(ADA)
|
ENSP00000512234.1:p.Arg202Trp
|
|
|
ENST00000536532.6:c.757C>T
(ADA)
|
ENSP00000440946.1:p.Arg253Trp
|
|
|
ENST00000537820.2:c.685C>T
(ADA)
|
ENSP00000441818.1:p.Arg229Trp
|
|
|
ENST00000539235.6:c.*141C>T
(ADA)
|
ENSP00000446464.1:n.*141C>T
|
|
|
ENST00000695889.1:c.297C>T
(ADA)
|
ENSP00000512240.1:p.Cys99=
|
|
|
ENST00000695890.1:n.2636C>T
(ADA)
|
|
|
|
ENST00000695891.1:c.297C>T
(ADA)
|
ENSP00000512241.1:p.Cys99=
|
|
|
ENST00000695927.1:c.835C>T
(ADA)
|
ENSP00000512270.1:p.Arg279Trp
|
|
|
ENST00000695949.1:c.682C>T
(ADA)
|
ENSP00000512281.1:p.Arg228Trp
|
|
|
ENST00000695957.1:c.*248C>T
(ADA)
|
ENSP00000512286.1:n.*248C>T
|
|
|
ENST00000695991.1:c.295C>T
(ADA)
|
ENSP00000512314.1:p.Arg99Trp
|
|
|
ENST00000695992.1:c.757C>T
(ADA)
|
ENSP00000512315.1:p.Arg253Trp
|
|
|
ENST00000695993.1:c.757C>T
(ADA)
|
ENSP00000512316.1:p.Arg253Trp
|
|
|
ENST00000695994.1:c.730C>T
(ADA)
|
ENSP00000512317.1:p.Arg244Trp
|
|
|
ENST00000695995.1:c.367C>T
(ADA)
|
ENSP00000512318.1:p.Arg123Trp
|
|
|
ENST00000695996.1:n.904C>T
(ADA)
|
|
|
|
ENST00000696003.1:n.925C>T
(ADA)
|
|
|
|
ENST00000696004.1:n.925C>T
(ADA)
|
|
|
|
ENST00000696005.1:c.207C>T
(ADA)
|
|
|
|
ENST00000696006.1:c.685C>T
(ADA)
|
ENSP00000512325.1:p.Arg229Trp
|
|
|
ENST00000696007.1:c.684C>T
(ADA)
|
ENSP00000512326.1:n.684C>T
|
|
|
ENST00000696008.1:n.3111C>T
(ADA)
|
|
|
|
ENST00000696017.1:c.754C>T
(ADA)
|
ENSP00000512333.1:p.Arg252Trp
|
|
|
ENST00000696034.1:c.757C>T
(ADA)
|
ENSP00000512343.1:p.Arg253Trp
|
|
|
ENST00000696035.1:n.943C>T
(ADA)
|
|
|
|
ENST00000696036.1:n.1523C>T
(ADA)
|
|
|
|
ENST00000696037.1:n.2434C>T
(ADA)
|
|
|
|
ENST00000696038.1:c.*579C>T
(ADA)
|
ENSP00000512344.1:n.*579C>T
|
|
|
ENST00000696039.1:n.1121C>T
(ADA)
|
|
|
|
ENST00000696058.1:c.754C>T
(ADA)
|
ENSP00000512361.1:p.Arg252Trp
|
|
|
ENST00000696059.1:c.*702C>T
(ADA)
|
ENSP00000512362.1:n.*702C>T
|
|
|
ENST00000696060.1:c.826C>T
(ADA)
|
ENSP00000512363.1:p.Arg276Trp
|
|
|
ENST00000696061.1:c.754C>T
(ADA)
|
ENSP00000512364.1:p.Arg252Trp
|
|
|
ENST00000696062.1:c.820C>T
(ADA)
|
ENSP00000512365.1:p.Arg274Trp
|
|
|
ENST00000696063.1:c.832C>T
(ADA)
|
ENSP00000512366.1:p.Arg278Trp
|
|
|
ENST00000696064.1:c.604C>T
(ADA)
|
ENSP00000512367.1:p.Arg202Trp
|
|
|
ENST00000696065.1:c.144C>T
(ADA)
|
ENSP00000512368.1:p.Cys48=
|
|
|
ENST00000696073.1:n.1068C>T
(ADA)
|
|
|
|
ENST00000696074.1:n.373C>T
(ADA)
|
|
|
|
ENST00000696075.1:c.*727C>T
(ADA)
|
ENSP00000512374.1:n.*727C>T
|
|
|
ENST00000696076.1:c.826C>T
(ADA)
|
ENSP00000512375.1:p.Arg276Trp
|
|
|
ENST00000696077.1:c.751C>T
(ADA)
|
ENSP00000512376.1:p.Arg251Trp
|
|
|
ENST00000696078.1:c.754C>T
(ADA)
|
ENSP00000512377.1:p.Arg252Trp
|
|
|
ENST00000696079.1:c.754C>T
(ADA)
|
ENSP00000512378.1:p.Arg252Trp
|
|
|
ENST00000696080.1:c.757C>T
(ADA)
|
ENSP00000512379.1:p.Arg253Trp
|
|
|
ENST00000696081.1:n.876C>T
(ADA)
|
|
|
|
ENST00000696082.1:c.832C>T
(ADA)
|
ENSP00000512380.1:p.Arg278Trp
|
|
|
ENST00000696083.1:n.1714C>T
(ADA)
|
|
|
|
ENST00000696084.1:n.934C>T
(ADA)
|
|
|
|
ENST00000696104.1:c.441C>T
(ADA)
|
ENSP00000512399.1:p.Cys147=
|
|
|
ENST00000372874.9:c.757C>T
(ADA)
MANE Select
|
ENSP00000361965.4:p.Arg253Trp
|
|
|
ENST00000372874.8:c.757C>T
(ADA)
|
ENSP00000361965.4:p.Arg253Trp
|
|
|
ENST00000372887.5:c.152-1081G>A
(PKIG)
|
ENSP00000361978.1:n.152-1081G>A
|
|
|
ENST00000464097.5:n.507C>T
(ADA)
|
|
|
|
ENST00000492931.5:n.917C>T
(ADA)
|
|
|
|
ENST00000536532.5:c.757C>T
(ADA)
|
ENSP00000440946.1:p.Arg253Trp
|
|
|
ENST00000537820.1:c.685C>T
(ADA)
|
ENSP00000441818.1:p.Arg229Trp
|
|
|
ENST00000539235.5:c.*141C>T
(ADA)
|
ENSP00000446464.1:n.*141C>T
|
|
|
NM_000022.2:c.757C>T , LRG_16t1:c.757C>T
(ADA)
|
NP_000013.2:p.Arg253Trp
|
|
|
XM_005260236.2:c.685C>T
(ADA)
|
XP_005260293.1:p.Arg229Trp
|
|
|
XM_011528478.1:c.352C>T
(ADA)
|
XP_011526780.1:p.Arg118Trp
|
|
|
XM_011528479.1:c.352C>T
(ADA)
|
XP_011526781.1:p.Arg118Trp
|
|
|
XR_244129.1:n.811C>T
(ADA)
|
|
|
|
NM_000022.3:c.757C>T
(ADA)
|
NP_000013.2:p.Arg253Trp
|
|
|
NM_001322050.1:c.352C>T
(ADA)
|
NP_001308979.1:p.Arg118Trp
|
|
|
NM_001322051.1:c.685C>T
(ADA)
|
NP_001308980.1:p.Arg229Trp
|
|
|
NR_136160.1:n.908C>T
(ADA)
|
|
|
|
NM_000022.4:c.757C>T
(ADA)
MANE Select
|
NP_000013.2:p.Arg253Trp
|
|
|
NM_001322050.2:c.352C>T
(ADA)
|
NP_001308979.1:p.Arg118Trp
|
|
|
NM_001322051.2:c.685C>T
(ADA)
|
NP_001308980.1:p.Arg229Trp
|
|
|
NR_136160.2:n.849C>T
(ADA)
|
|
|
