|
ENST00000492931.6:n.1187G>C
(ADA)
|
|
|
|
ENST00000536076.2:c.867G>C
(ADA)
|
ENSP00000512234.1:p.Lys289Asn
|
|
|
ENST00000536532.6:c.*163G>C
(ADA)
|
ENSP00000440946.1:n.*163G>C
|
|
|
ENST00000537820.2:c.948G>C
(ADA)
|
ENSP00000441818.1:p.Lys316Asn
|
|
|
ENST00000539235.6:c.*404G>C
(ADA)
|
ENSP00000446464.1:n.*404G>C
|
|
|
ENST00000695889.1:c.495G>C
(ADA)
|
ENSP00000512240.1:p.Lys165Asn
|
|
|
ENST00000695890.1:n.5131G>C
(ADA)
|
|
|
|
ENST00000695891.1:c.560G>C
(ADA)
|
ENSP00000512241.1:n.560G>C
|
|
|
ENST00000695927.1:c.1098G>C
(ADA)
|
ENSP00000512270.1:p.Lys366Asn
|
|
|
ENST00000695949.1:c.945G>C
(ADA)
|
ENSP00000512281.1:p.Lys315Asn
|
|
|
ENST00000695956.1:c.175G>C
(ADA)
|
|
|
|
ENST00000695957.1:c.*511G>C
(ADA)
|
ENSP00000512286.1:n.*511G>C
|
|
|
ENST00000695991.1:c.558G>C
(ADA)
|
ENSP00000512314.1:p.Lys186Asn
|
|
|
ENST00000695992.1:c.*163G>C
(ADA)
|
ENSP00000512315.1:n.*163G>C
|
|
|
ENST00000695993.1:c.1020G>C
(ADA)
|
ENSP00000512316.1:p.Lys340Asn
|
|
|
ENST00000695994.1:c.*163G>C
(ADA)
|
ENSP00000512317.1:n.*163G>C
|
|
|
ENST00000695995.1:c.630G>C
(ADA)
|
ENSP00000512318.1:p.Lys210Asn
|
|
|
ENST00000695996.1:n.1102G>C
(ADA)
|
|
|
|
ENST00000696003.1:n.2804G>C
(ADA)
|
|
|
|
ENST00000696004.1:n.1804G>C
(ADA)
|
|
|
|
ENST00000696005.1:c.470G>C
(ADA)
|
|
|
|
ENST00000696006.1:c.*163G>C
(ADA)
|
ENSP00000512325.1:n.*163G>C
|
|
|
ENST00000696007.1:c.947G>C
(ADA)
|
ENSP00000512326.1:n.947G>C
|
|
|
ENST00000696008.1:n.3374G>C
(ADA)
|
|
|
|
ENST00000696017.1:c.1017G>C
(ADA)
|
ENSP00000512333.1:p.Lys339Asn
|
|
|
ENST00000696034.1:c.*163G>C
(ADA)
|
ENSP00000512343.1:n.*163G>C
|
|
|
ENST00000696035.1:n.1206G>C
(ADA)
|
|
|
|
ENST00000696036.1:n.1721G>C
(ADA)
|
|
|
|
ENST00000696037.1:n.2697G>C
(ADA)
|
|
|
|
ENST00000696038.1:c.*777G>C
(ADA)
|
ENSP00000512344.1:n.*777G>C
|
|
|
ENST00000696039.1:n.1384G>C
(ADA)
|
|
|
|
ENST00000696058.1:c.1017G>C
(ADA)
|
ENSP00000512361.1:p.Lys339Asn
|
|
|
ENST00000696059.1:c.*965G>C
(ADA)
|
ENSP00000512362.1:n.*965G>C
|
|
|
ENST00000696060.1:c.1089G>C
(ADA)
|
ENSP00000512363.1:p.Lys363Asn
|
|
|
ENST00000696061.1:c.1017G>C
(ADA)
|
ENSP00000512364.1:p.Lys339Asn
|
|
|
ENST00000696062.1:c.1083G>C
(ADA)
|
ENSP00000512365.1:p.Lys361Asn
|
|
|
ENST00000696063.1:c.1095G>C
(ADA)
|
ENSP00000512366.1:p.Lys365Asn
|
|
|
ENST00000696064.1:c.867G>C
(ADA)
|
ENSP00000512367.1:p.Lys289Asn
|
|
|
ENST00000696065.1:c.342G>C
(ADA)
|
ENSP00000512368.1:p.Lys114Asn
|
|
|
ENST00000696072.1:n.375G>C
(ADA)
|
|
|
|
ENST00000696073.1:n.1331G>C
(ADA)
|
|
|
|
ENST00000696074.1:n.571G>C
(ADA)
|
|
|
|
ENST00000696075.1:c.*990G>C
(ADA)
|
ENSP00000512374.1:n.*990G>C
|
|
|
ENST00000696076.1:c.1089G>C
(ADA)
|
ENSP00000512375.1:p.Lys363Asn
|
|
|
ENST00000696077.1:c.1014G>C
(ADA)
|
ENSP00000512376.1:p.Lys338Asn
|
|
|
ENST00000696078.1:c.1017G>C
(ADA)
|
ENSP00000512377.1:p.Lys339Asn
|
|
|
ENST00000696079.1:c.1017G>C
(ADA)
|
ENSP00000512378.1:p.Lys339Asn
|
|
|
ENST00000696080.1:c.1020G>C
(ADA)
|
ENSP00000512379.1:p.Lys340Asn
|
|
|
ENST00000696081.1:n.1139G>C
(ADA)
|
|
|
|
ENST00000696082.1:c.1095G>C
(ADA)
|
ENSP00000512380.1:p.Lys365Asn
|
|
|
ENST00000696083.1:n.1977G>C
(ADA)
|
|
|
|
ENST00000696084.1:n.1197G>C
(ADA)
|
|
|
|
ENST00000696104.1:c.*89G>C
(ADA)
|
ENSP00000512399.1:n.*89G>C
|
|
|
ENST00000372874.9:c.1020G>C
(ADA)
MANE Select
|
ENSP00000361965.4:p.Lys340Asn
|
|
|
ENST00000372874.8:c.1020G>C
(ADA)
|
ENSP00000361965.4:p.Lys340Asn
|
|
|
ENST00000372887.5:c.152-3576C>G
(PKIG)
|
ENSP00000361978.1:n.152-3576C>G
|
|
|
ENST00000464097.5:n.1386G>C
(ADA)
|
|
|
|
ENST00000492931.5:n.1180G>C
(ADA)
|
|
|
|
ENST00000536532.5:c.*163G>C
(ADA)
|
ENSP00000440946.1:n.*163G>C
|
|
|
ENST00000537820.1:c.948G>C
(ADA)
|
ENSP00000441818.1:p.Lys316Asn
|
|
|
ENST00000539235.5:c.*404G>C
(ADA)
|
ENSP00000446464.1:n.*404G>C
|
|
|
NM_000022.2:c.1020G>C , LRG_16t1:c.1020G>C
(ADA)
|
NP_000013.2:p.Lys340Asn
|
|
|
XM_005260236.2:c.948G>C
(ADA)
|
XP_005260293.1:p.Lys316Asn
|
|
|
XM_011528478.1:c.615G>C
(ADA)
|
XP_011526780.1:p.Lys205Asn
|
|
|
XM_011528479.1:c.615G>C
(ADA)
|
XP_011526781.1:p.Lys205Asn
|
|
|
XR_244129.1:n.1009G>C
(ADA)
|
|
|
|
NM_000022.3:c.1020G>C
(ADA)
|
NP_000013.2:p.Lys340Asn
|
|
|
NM_001322050.1:c.615G>C
(ADA)
|
NP_001308979.1:p.Lys205Asn
|
|
|
NM_001322051.1:c.948G>C
(ADA)
|
NP_001308980.1:p.Lys316Asn
|
|
|
NR_136160.1:n.1106G>C
(ADA)
|
|
|
|
NM_000022.4:c.1020G>C
(ADA)
MANE Select
|
NP_000013.2:p.Lys340Asn
|
|
|
NM_001322050.2:c.615G>C
(ADA)
|
NP_001308979.1:p.Lys205Asn
|
|
|
NM_001322051.2:c.948G>C
(ADA)
|
NP_001308980.1:p.Lys316Asn
|
|
|
NR_136160.2:n.1047G>C
(ADA)
|
|
|
