|
ENST00000492931.6:n.1194C>T
(ADA)
|
|
|
|
ENST00000536076.2:c.874C>T
(ADA)
|
ENSP00000512234.1:p.Leu292Phe
|
|
|
ENST00000536532.6:c.*170C>T
(ADA)
|
ENSP00000440946.1:n.*170C>T
|
|
|
ENST00000537820.2:c.955C>T
(ADA)
|
ENSP00000441818.1:p.Leu319Phe
|
|
|
ENST00000539235.6:c.*411C>T
(ADA)
|
ENSP00000446464.1:n.*411C>T
|
|
|
ENST00000695889.1:c.502C>T
(ADA)
|
ENSP00000512240.1:p.Leu168Phe
|
|
|
ENST00000695890.1:n.5138C>T
(ADA)
|
|
|
|
ENST00000695891.1:c.567C>T
(ADA)
|
ENSP00000512241.1:n.567C>T
|
|
|
ENST00000695927.1:c.1105C>T
(ADA)
|
ENSP00000512270.1:p.Leu369Phe
|
|
|
ENST00000695949.1:c.952C>T
(ADA)
|
ENSP00000512281.1:p.Leu318Phe
|
|
|
ENST00000695956.1:c.182C>T
(ADA)
|
|
|
|
ENST00000695957.1:c.*518C>T
(ADA)
|
ENSP00000512286.1:n.*518C>T
|
|
|
ENST00000695991.1:c.565C>T
(ADA)
|
ENSP00000512314.1:p.Leu189Phe
|
|
|
ENST00000695992.1:c.*170C>T
(ADA)
|
ENSP00000512315.1:n.*170C>T
|
|
|
ENST00000695993.1:c.1027C>T
(ADA)
|
ENSP00000512316.1:p.Leu343Phe
|
|
|
ENST00000695994.1:c.*170C>T
(ADA)
|
ENSP00000512317.1:n.*170C>T
|
|
|
ENST00000695995.1:c.637C>T
(ADA)
|
ENSP00000512318.1:p.Leu213Phe
|
|
|
ENST00000695996.1:n.1109C>T
(ADA)
|
|
|
|
ENST00000696003.1:n.2811C>T
(ADA)
|
|
|
|
ENST00000696004.1:n.1811C>T
(ADA)
|
|
|
|
ENST00000696005.1:c.477C>T
(ADA)
|
|
|
|
ENST00000696006.1:c.*170C>T
(ADA)
|
ENSP00000512325.1:n.*170C>T
|
|
|
ENST00000696007.1:c.954C>T
(ADA)
|
ENSP00000512326.1:n.954C>T
|
|
|
ENST00000696008.1:n.3381C>T
(ADA)
|
|
|
|
ENST00000696017.1:c.1024C>T
(ADA)
|
ENSP00000512333.1:p.Leu342Phe
|
|
|
ENST00000696034.1:c.*170C>T
(ADA)
|
ENSP00000512343.1:n.*170C>T
|
|
|
ENST00000696035.1:n.1213C>T
(ADA)
|
|
|
|
ENST00000696036.1:n.1728C>T
(ADA)
|
|
|
|
ENST00000696037.1:n.2704C>T
(ADA)
|
|
|
|
ENST00000696038.1:c.*784C>T
(ADA)
|
ENSP00000512344.1:n.*784C>T
|
|
|
ENST00000696039.1:n.1391C>T
(ADA)
|
|
|
|
ENST00000696058.1:c.1024C>T
(ADA)
|
ENSP00000512361.1:p.Leu342Phe
|
|
|
ENST00000696059.1:c.*972C>T
(ADA)
|
ENSP00000512362.1:n.*972C>T
|
|
|
ENST00000696060.1:c.1096C>T
(ADA)
|
ENSP00000512363.1:p.Leu366Phe
|
|
|
ENST00000696061.1:c.1024C>T
(ADA)
|
ENSP00000512364.1:p.Leu342Phe
|
|
|
ENST00000696062.1:c.1090C>T
(ADA)
|
ENSP00000512365.1:p.Leu364Phe
|
|
|
ENST00000696063.1:c.1102C>T
(ADA)
|
ENSP00000512366.1:p.Leu368Phe
|
|
|
ENST00000696064.1:c.874C>T
(ADA)
|
ENSP00000512367.1:p.Leu292Phe
|
|
|
ENST00000696065.1:c.349C>T
(ADA)
|
ENSP00000512368.1:p.Leu117Phe
|
|
|
ENST00000696072.1:n.382C>T
(ADA)
|
|
|
|
ENST00000696073.1:n.1338C>T
(ADA)
|
|
|
|
ENST00000696074.1:n.578C>T
(ADA)
|
|
|
|
ENST00000696075.1:c.*997C>T
(ADA)
|
ENSP00000512374.1:n.*997C>T
|
|
|
ENST00000696076.1:c.1096C>T
(ADA)
|
ENSP00000512375.1:p.Leu366Phe
|
|
|
ENST00000696077.1:c.1021C>T
(ADA)
|
ENSP00000512376.1:p.Leu341Phe
|
|
|
ENST00000696078.1:c.1024C>T
(ADA)
|
ENSP00000512377.1:p.Leu342Phe
|
|
|
ENST00000696079.1:c.1024C>T
(ADA)
|
ENSP00000512378.1:p.Leu342Phe
|
|
|
ENST00000696080.1:c.1027C>T
(ADA)
|
ENSP00000512379.1:p.Leu343Phe
|
|
|
ENST00000696081.1:n.1146C>T
(ADA)
|
|
|
|
ENST00000696082.1:c.1102C>T
(ADA)
|
ENSP00000512380.1:p.Leu368Phe
|
|
|
ENST00000696083.1:n.1984C>T
(ADA)
|
|
|
|
ENST00000696084.1:n.1204C>T
(ADA)
|
|
|
|
ENST00000696104.1:c.*96C>T
(ADA)
|
ENSP00000512399.1:n.*96C>T
|
|
|
ENST00000372874.9:c.1027C>T
(ADA)
MANE Select
|
ENSP00000361965.4:p.Leu343Phe
|
|
|
ENST00000372874.8:c.1027C>T
(ADA)
|
ENSP00000361965.4:p.Leu343Phe
|
|
|
ENST00000372887.5:c.152-3583G>A
(PKIG)
|
ENSP00000361978.1:n.152-3583G>A
|
|
|
ENST00000464097.5:n.1393C>T
(ADA)
|
|
|
|
ENST00000492931.5:n.1187C>T
(ADA)
|
|
|
|
ENST00000536532.5:c.*170C>T
(ADA)
|
ENSP00000440946.1:n.*170C>T
|
|
|
ENST00000537820.1:c.955C>T
(ADA)
|
ENSP00000441818.1:p.Leu319Phe
|
|
|
ENST00000539235.5:c.*411C>T
(ADA)
|
ENSP00000446464.1:n.*411C>T
|
|
|
NM_000022.2:c.1027C>T , LRG_16t1:c.1027C>T
(ADA)
|
NP_000013.2:p.Leu343Phe
|
|
|
XM_005260236.2:c.955C>T
(ADA)
|
XP_005260293.1:p.Leu319Phe
|
|
|
XM_011528478.1:c.622C>T
(ADA)
|
XP_011526780.1:p.Leu208Phe
|
|
|
XM_011528479.1:c.622C>T
(ADA)
|
XP_011526781.1:p.Leu208Phe
|
|
|
XR_244129.1:n.1016C>T
(ADA)
|
|
|
|
NM_000022.3:c.1027C>T
(ADA)
|
NP_000013.2:p.Leu343Phe
|
|
|
NM_001322050.1:c.622C>T
(ADA)
|
NP_001308979.1:p.Leu208Phe
|
|
|
NM_001322051.1:c.955C>T
(ADA)
|
NP_001308980.1:p.Leu319Phe
|
|
|
NR_136160.1:n.1113C>T
(ADA)
|
|
|
|
NM_000022.4:c.1027C>T
(ADA)
MANE Select
|
NP_000013.2:p.Leu343Phe
|
|
|
NM_001322050.2:c.622C>T
(ADA)
|
NP_001308979.1:p.Leu208Phe
|
|
|
NM_001322051.2:c.955C>T
(ADA)
|
NP_001308980.1:p.Leu319Phe
|
|
|
NR_136160.2:n.1054C>T
(ADA)
|
|
|
