|
ENST00000492931.6:n.1204T>C
(ADA)
|
|
|
|
ENST00000536076.2:c.884T>C
(ADA)
|
ENSP00000512234.1:p.Leu295Pro
|
|
|
ENST00000536532.6:c.*180T>C
(ADA)
|
ENSP00000440946.1:n.*180T>C
|
|
|
ENST00000537820.2:c.965T>C
(ADA)
|
ENSP00000441818.1:p.Leu322Pro
|
|
|
ENST00000539235.6:c.*421T>C
(ADA)
|
ENSP00000446464.1:n.*421T>C
|
|
|
ENST00000695889.1:c.512T>C
(ADA)
|
ENSP00000512240.1:p.Leu171Pro
|
|
|
ENST00000695890.1:n.5148T>C
(ADA)
|
|
|
|
ENST00000695891.1:c.577T>C
(ADA)
|
ENSP00000512241.1:n.577T>C
|
|
|
ENST00000695927.1:c.1115T>C
(ADA)
|
ENSP00000512270.1:p.Leu372Pro
|
|
|
ENST00000695949.1:c.962T>C
(ADA)
|
ENSP00000512281.1:p.Leu321Pro
|
|
|
ENST00000695956.1:c.192T>C
(ADA)
|
|
|
|
ENST00000695957.1:c.*528T>C
(ADA)
|
ENSP00000512286.1:n.*528T>C
|
|
|
ENST00000695991.1:c.575T>C
(ADA)
|
ENSP00000512314.1:p.Leu192Pro
|
|
|
ENST00000695992.1:c.*180T>C
(ADA)
|
ENSP00000512315.1:n.*180T>C
|
|
|
ENST00000695993.1:c.1037T>C
(ADA)
|
ENSP00000512316.1:p.Leu346Pro
|
|
|
ENST00000695994.1:c.*180T>C
(ADA)
|
ENSP00000512317.1:n.*180T>C
|
|
|
ENST00000695995.1:c.647T>C
(ADA)
|
ENSP00000512318.1:p.Leu216Pro
|
|
|
ENST00000695996.1:n.1119T>C
(ADA)
|
|
|
|
ENST00000696003.1:n.2821T>C
(ADA)
|
|
|
|
ENST00000696004.1:n.1821T>C
(ADA)
|
|
|
|
ENST00000696005.1:c.487T>C
(ADA)
|
|
|
|
ENST00000696006.1:c.*180T>C
(ADA)
|
ENSP00000512325.1:n.*180T>C
|
|
|
ENST00000696007.1:c.964T>C
(ADA)
|
ENSP00000512326.1:n.964T>C
|
|
|
ENST00000696008.1:n.3391T>C
(ADA)
|
|
|
|
ENST00000696017.1:c.1034T>C
(ADA)
|
ENSP00000512333.1:p.Leu345Pro
|
|
|
ENST00000696034.1:c.*180T>C
(ADA)
|
ENSP00000512343.1:n.*180T>C
|
|
|
ENST00000696035.1:n.1223T>C
(ADA)
|
|
|
|
ENST00000696036.1:n.1738T>C
(ADA)
|
|
|
|
ENST00000696037.1:n.2714T>C
(ADA)
|
|
|
|
ENST00000696038.1:c.*794T>C
(ADA)
|
ENSP00000512344.1:n.*794T>C
|
|
|
ENST00000696039.1:n.1401T>C
(ADA)
|
|
|
|
ENST00000696058.1:c.1034T>C
(ADA)
|
ENSP00000512361.1:p.Leu345Pro
|
|
|
ENST00000696059.1:c.*982T>C
(ADA)
|
ENSP00000512362.1:n.*982T>C
|
|
|
ENST00000696060.1:c.1106T>C
(ADA)
|
ENSP00000512363.1:p.Leu369Pro
|
|
|
ENST00000696061.1:c.1034T>C
(ADA)
|
ENSP00000512364.1:p.Leu345Pro
|
|
|
ENST00000696062.1:c.1100T>C
(ADA)
|
ENSP00000512365.1:p.Leu367Pro
|
|
|
ENST00000696063.1:c.1112T>C
(ADA)
|
ENSP00000512366.1:p.Leu371Pro
|
|
|
ENST00000696064.1:c.884T>C
(ADA)
|
ENSP00000512367.1:p.Leu295Pro
|
|
|
ENST00000696065.1:c.359T>C
(ADA)
|
ENSP00000512368.1:p.Leu120Pro
|
|
|
ENST00000696072.1:n.392T>C
(ADA)
|
|
|
|
ENST00000696073.1:n.1348T>C
(ADA)
|
|
|
|
ENST00000696074.1:n.588T>C
(ADA)
|
|
|
|
ENST00000696075.1:c.*1007T>C
(ADA)
|
ENSP00000512374.1:n.*1007T>C
|
|
|
ENST00000696076.1:c.1106T>C
(ADA)
|
ENSP00000512375.1:p.Leu369Pro
|
|
|
ENST00000696077.1:c.1031T>C
(ADA)
|
ENSP00000512376.1:p.Leu344Pro
|
|
|
ENST00000696078.1:c.1034T>C
(ADA)
|
ENSP00000512377.1:p.Leu345Pro
|
|
|
ENST00000696079.1:c.1034T>C
(ADA)
|
ENSP00000512378.1:p.Leu345Pro
|
|
|
ENST00000696080.1:c.1037T>C
(ADA)
|
ENSP00000512379.1:p.Leu346Pro
|
|
|
ENST00000696081.1:n.1156T>C
(ADA)
|
|
|
|
ENST00000696082.1:c.1112T>C
(ADA)
|
ENSP00000512380.1:p.Leu371Pro
|
|
|
ENST00000696083.1:n.1994T>C
(ADA)
|
|
|
|
ENST00000696084.1:n.1214T>C
(ADA)
|
|
|
|
ENST00000696104.1:c.*106T>C
(ADA)
|
ENSP00000512399.1:n.*106T>C
|
|
|
ENST00000372874.9:c.1037T>C
(ADA)
MANE Select
|
ENSP00000361965.4:p.Leu346Pro
|
|
|
ENST00000372874.8:c.1037T>C
(ADA)
|
ENSP00000361965.4:p.Leu346Pro
|
|
|
ENST00000372887.5:c.152-3593A>G
(PKIG)
|
ENSP00000361978.1:n.152-3593A>G
|
|
|
ENST00000464097.5:n.1403T>C
(ADA)
|
|
|
|
ENST00000492931.5:n.1197T>C
(ADA)
|
|
|
|
ENST00000536532.5:c.*180T>C
(ADA)
|
ENSP00000440946.1:n.*180T>C
|
|
|
ENST00000537820.1:c.965T>C
(ADA)
|
ENSP00000441818.1:p.Leu322Pro
|
|
|
ENST00000539235.5:c.*421T>C
(ADA)
|
ENSP00000446464.1:n.*421T>C
|
|
|
NM_000022.2:c.1037T>C , LRG_16t1:c.1037T>C
(ADA)
|
NP_000013.2:p.Leu346Pro
|
|
|
XM_005260236.2:c.965T>C
(ADA)
|
XP_005260293.1:p.Leu322Pro
|
|
|
XM_011528478.1:c.632T>C
(ADA)
|
XP_011526780.1:p.Leu211Pro
|
|
|
XM_011528479.1:c.632T>C
(ADA)
|
XP_011526781.1:p.Leu211Pro
|
|
|
XR_244129.1:n.1026T>C
(ADA)
|
|
|
|
NM_000022.3:c.1037T>C
(ADA)
|
NP_000013.2:p.Leu346Pro
|
|
|
NM_001322050.1:c.632T>C
(ADA)
|
NP_001308979.1:p.Leu211Pro
|
|
|
NM_001322051.1:c.965T>C
(ADA)
|
NP_001308980.1:p.Leu322Pro
|
|
|
NR_136160.1:n.1123T>C
(ADA)
|
|
|
|
NM_000022.4:c.1037T>C
(ADA)
MANE Select
|
NP_000013.2:p.Leu346Pro
|
|
|
NM_001322050.2:c.632T>C
(ADA)
|
NP_001308979.1:p.Leu211Pro
|
|
|
NM_001322051.2:c.965T>C
(ADA)
|
NP_001308980.1:p.Leu322Pro
|
|
|
NR_136160.2:n.1064T>C
(ADA)
|
|
|
