|
ENST00000492931.6:n.538G>C
|
|
|
|
ENST00000536076.2:c.294G>C
|
ENSP00000512234.1:p.Arg98=
|
|
|
ENST00000536532.6:c.447G>C
|
ENSP00000440946.1:p.Arg149=
|
|
|
ENST00000537820.2:c.447G>C
|
ENSP00000441818.1:p.Arg149=
|
|
|
ENST00000539235.6:c.219-2522G>C
|
ENSP00000446464.1:n.219-2522G>C
|
|
|
ENST00000695889.1:c.219-2670G>C
|
ENSP00000512240.1:n.219-2670G>C
|
|
|
ENST00000695890.1:n.2250G>C
|
|
|
|
ENST00000695891.1:c.219-2670G>C
|
ENSP00000512241.1:n.219-2670G>C
|
|
|
ENST00000695927.1:c.525G>C
|
ENSP00000512270.1:p.Arg175=
|
|
|
ENST00000695949.1:c.444G>C
|
ENSP00000512281.1:p.Arg148=
|
|
|
ENST00000695957.1:c.362+856G>C
|
ENSP00000512286.1:n.362+856G>C
|
|
|
ENST00000695991.1:c.217-2670G>C
|
ENSP00000512314.1:n.217-2670G>C
|
|
|
ENST00000695992.1:c.447G>C
|
ENSP00000512315.1:p.Arg149=
|
|
|
ENST00000695993.1:c.447G>C
|
ENSP00000512316.1:p.Arg149=
|
|
|
ENST00000695994.1:c.447G>C
|
ENSP00000512317.1:p.Arg149=
|
|
|
ENST00000695995.1:c.217-2522G>C
|
ENSP00000512318.1:n.217-2522G>C
|
|
|
ENST00000695996.1:n.518G>C
|
|
|
|
ENST00000695997.1:n.433+856G>C
|
|
|
|
ENST00000696003.1:n.539G>C
|
|
|
|
ENST00000696004.1:n.539G>C
|
|
|
|
ENST00000696006.1:c.447G>C
|
ENSP00000512325.1:p.Arg149=
|
|
|
ENST00000696007.1:c.329+856G>C
|
ENSP00000512326.1:n.329+856G>C
|
|
|
ENST00000696008.1:n.363G>C
|
|
|
|
ENST00000696009.1:n.558G>C
|
|
|
|
ENST00000696017.1:c.444G>C
|
ENSP00000512333.1:p.Arg148=
|
|
|
ENST00000696034.1:c.447G>C
|
ENSP00000512343.1:p.Arg149=
|
|
|
ENST00000696035.1:n.557G>C
|
|
|
|
ENST00000696036.1:n.1137G>C
|
|
|
|
ENST00000696037.1:n.2124G>C
|
|
|
|
ENST00000696038.1:c.*193G>C
|
ENSP00000512344.1:n.*193G>C
|
|
|
ENST00000696039.1:n.735G>C
|
|
|
|
ENST00000696058.1:c.447G>C
|
ENSP00000512361.1:p.Arg149=
|
|
|
ENST00000696059.1:c.*392G>C
|
ENSP00000512362.1:n.*392G>C
|
|
|
ENST00000696060.1:c.447G>C
|
ENSP00000512363.1:p.Arg149=
|
|
|
ENST00000696061.1:c.444G>C
|
ENSP00000512364.1:p.Arg148=
|
|
|
ENST00000696062.1:c.510G>C
|
ENSP00000512365.1:p.Arg170=
|
|
|
ENST00000696063.1:c.522G>C
|
ENSP00000512366.1:p.Arg174=
|
|
|
ENST00000696064.1:c.294G>C
|
ENSP00000512367.1:p.Arg98=
|
|
|
ENST00000696065.1:c.66-2670G>C
|
ENSP00000512368.1:n.66-2670G>C
|
|
|
ENST00000696075.1:c.*417G>C
|
ENSP00000512374.1:n.*417G>C
|
|
|
ENST00000696076.1:c.447G>C
|
ENSP00000512375.1:p.Arg149=
|
|
|
ENST00000696077.1:c.444G>C
|
ENSP00000512376.1:p.Arg148=
|
|
|
ENST00000696078.1:c.447G>C
|
ENSP00000512377.1:p.Arg149=
|
|
|
ENST00000696079.1:c.447G>C
|
ENSP00000512378.1:p.Arg149=
|
|
|
ENST00000696080.1:c.447G>C
|
ENSP00000512379.1:p.Arg149=
|
|
|
ENST00000696082.1:c.525G>C
|
ENSP00000512380.1:p.Arg175=
|
|
|
ENST00000696083.1:n.89G>C
|
|
|
|
ENST00000696084.1:n.548G>C
|
|
|
|
ENST00000696104.1:c.362+856G>C
|
ENSP00000512399.1:n.362+856G>C
|
|
|
ENST00000696105.1:c.447G>C
|
ENSP00000512400.1:p.Arg149=
|
|
|
ENST00000372874.9:c.447G>C
MANE Select
|
ENSP00000361965.4:p.Arg149=
|
|
|
ENST00000372874.8:c.447G>C
|
ENSP00000361965.4:p.Arg149=
|
|
|
ENST00000464097.5:n.121G>C
|
|
|
|
ENST00000492931.5:n.531G>C
|
|
|
|
ENST00000536532.5:c.447G>C
|
ENSP00000440946.1:p.Arg149=
|
|
|
ENST00000537820.1:c.447G>C
|
ENSP00000441818.1:p.Arg149=
|
|
|
ENST00000539235.5:c.219-2522G>C
|
ENSP00000446464.1:n.219-2522G>C
|
|
|
NM_000022.2:c.447G>C , LRG_16t1:c.447G>C
|
NP_000013.2:p.Arg149=
|
|
|
XM_005260236.2:c.447G>C
|
XP_005260293.1:p.Arg149=
|
|
|
XM_011528478.1:c.73+856G>C
|
XP_011526780.1:n.73+856G>C
|
|
|
XM_011528479.1:c.73+856G>C
|
XP_011526781.1:n.73+856G>C
|
|
|
XR_244129.1:n.501G>C
|
|
|
|
NM_000022.3:c.447G>C
|
NP_000013.2:p.Arg149=
|
|
|
NM_001322050.1:c.73+856G>C
|
NP_001308979.1:n.73+856G>C
|
|
|
NM_001322051.1:c.447G>C
|
NP_001308980.1:p.Arg149=
|
|
|
NR_136160.1:n.598G>C
|
|
|
|
NM_000022.4:c.447G>C
MANE Select
|
NP_000013.2:p.Arg149=
|
|
|
NM_001322050.2:c.73+856G>C
|
NP_001308979.1:n.73+856G>C
|
|
|
NM_001322051.2:c.447G>C
|
NP_001308980.1:p.Arg149=
|
|
|
NR_136160.2:n.539G>C
|
|
|
